#CHROM	POS	REF	ALT	NEAR_SNV	GENE	VARIATION	CODING	EFFECT
1	939398	G	GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	T939485C	SAMD11	NM_001385641.1(SAMD11):c.1195+25_1195+72dup	coding	Benign
1	939436	CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	C	G939460A	SAMD11	NM_001385641.1(SAMD11):c.1195+48_1195+96del	coding	Benign
1	943381	A	AG	C943389G	SAMD11	NM_001385641.1(SAMD11):c.2178+11dup	noncoding	Benign
1	943381	AG	A	G943388C	SAMD11	NM_001385641.1(SAMD11):c.2178+11del	noncoding	Benign
1	943686	T	TC	T943692C	SAMD11	NM_001385641.1(SAMD11):c.2179-7dup	noncoding	Benign
1	964530	GGTCCGCAGTGGGGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGC	G	C964544A	KLHL17	NM_198317.3(KLHL17):c.1700+14_1700+78del	coding	Benign
1	1013466	T	TA	T1013468A	ISG15	NM_005101.4(ISG15):c.-108_-107insA	noncoding	Benign
1	1020060	GCC	G	C1020068G	AGRN	Single_allele	noncoding	Benign
1	1020060	GC	G	C1020069G	AGRN	Single_allele	noncoding	Benign
1	1040694	G	GC	G1040697C	AGRN	NM_198576.4(AGRN):c.543dup:p.Val182fs	coding	Pathogenic
1	1041119	GGGC	G	C1041122G	AGRN	NM_198576.4(AGRN):c.728-51_728-49del	noncoding	Benign
1	1041598	GGGACGAC	G	C1041602G	AGRN	NM_198576.4(AGRN):c.1077_1083del:p.Asp359fs	coding	Pathogenic
1	1041626	CTG	C	G1041630C	AGRN	NM_198576.4(AGRN):c.1105_1106del:p.Val369fs	coding	Pathogenic
1	1045575	AC	A	C1045580A	AGRN	NM_198576.4(AGRN):c.2536+57del	noncoding	Benign
1	1046478	CG	C	G1046480C	AGRN	NM_198576.4(AGRN):c.2995del:p.Ala999fs	coding	Pathogenic
1	1048232	G	GGCCCCCC	A1048240G	AGRN	NM_198576.4(AGRN):c.3973_3979dup:p.Gln1327fs	coding	Pathogenic
1	1048767	CAAAAAAAAAAA	C	A1048779G	AGRN	NM_198576.4(AGRN):c.4106-88_4106-78del	noncoding	Benign
1	1048767	CAAAA	C	A1048786G	AGRN	NM_198576.4(AGRN):c.4106-81_4106-78del	noncoding	Benign
1	1048767	C	CA	G1048790A	AGRN	NM_198576.4(AGRN):c.4106-78dup	noncoding	Benign
1	1048977	CAG	C	A1048978G	AGRN	NM_198576.4(AGRN):c.4217_4218del:p.Gln1406fs	coding	Pathogenic
1	1049111	C	CG	C1049115G	AGRN	NM_198576.4(AGRN):c.4298+55dup	noncoding	Benign
1	1049113	GGC	G	C1049115G	AGRN	NM_198576.4(AGRN):c.4298+56_4298+57del	noncoding	Benign
1	1049114	GC	G	C1049115G	AGRN	NM_198576.4(AGRN):c.4298+56del	noncoding	Benign
1	1050063	AG	A	G1050078T	AGRN	NM_198576.4(AGRN):c.4879+41del	noncoding	Benign
1	1050335	T	TG	C1050340G	AGRN	NM_198576.4(AGRN):c.4976+10dup	noncoding	Benign
1	1050346	CA	C	A1050347G	AGRN	NM_198576.4(AGRN):c.4976+18del	noncoding	Benign
1	1051635	C	CTG	C1051638T	AGRN	NM_198576.4(AGRN):c.5554_5555dup:p.Glu1853fs	coding	Pathogenic
1	1053802	GC	G	C1053804A	AGRN	NM_198576.4(AGRN):c.5703del:p.Thr1902fs	coding	Pathogenic
1	1053852	CTA	C	A1053854G	AGRN	NM_198576.4(AGRN):c.5753_5754del:p.Tyr1918fs	coding	Pathogenic
1	1213110	T	TG	T1213118G	TNFRSF4	NM_003327.4(TNFRSF4):c.269-18dup	noncoding	Benign
1	1232504	AT	A	T1232505C	B3GALT6	NM_080605.4(B3GALT6):c.227del:p.Ile76fs	coding	Pathogenic
1	1338023	CG	C	G1338026T	DVL1	NM_001330311.2(DVL1):c.1667del:p.Pro556fs	coding	Pathogenic
1	1340328	AG	A	G1340333C	DVL1	NM_001330311.2(DVL1):c.700-13del	noncoding	Benign
1	1340746	G	GCA	T1340753C	DVL1	NM_001330311.2(DVL1):c.606-249TG[4]	noncoding	Benign
1	1435798	TGGCGCGGAGC	T	G1435810C	VWA1	NM_022834.5(VWA1):c.62_71del:p.Gly21fs	coding	Pathogenic/Likely_pathogenic
1	1435798	T	TGGCGCGGAGC	C1435820G	VWA1	NM_022834.5(VWA1):c.62_71dup:p.Gly25fs	coding	Pathogenic/Likely_pathogenic
1	1435945	C	CCGGGCGGGGGCG	A1435965G	VWA1	NM_022834.5(VWA1):c.73+132_73+143dup	noncoding	Benign
1	1437103	AC	A	C1437105G	VWA1	NM_022834.5(VWA1):c.252del:p.Glu85fs	coding	Pathogenic/Likely_pathogenic
1	1439326	AG	A	G1439328C	VWA1	NM_022834.5(VWA1):c.879del:p.Arg293fs	coding	Pathogenic/Likely_pathogenic
1	1540508	C	CG	C1540520G	TMEM240	NM_001114748.2(TMEM240):c.-163dup	noncoding	Benign
1	1540508	C	CGG	C1540520G	TMEM240	NM_001114748.2(TMEM240):c.-164_-163dup	noncoding	Benign
1	1789052	CCT	C	C1789053G	GNB1	NM_002074.5(GNB1):c.915_916del:p.Gly306fs	noncoding	Pathogenic
1	1793064	C	CA	G1793078A	GNB1	NM_002074.5(GNB1):c.497+168dup	noncoding	Benign
1	1804573	GGCGT	G	C1804575G	GNB1	NM_002074.5(GNB1):c.272_275del:p.His91fs	coding	Pathogenic
1	2229717	C	CA	G2229720A	SKI	NM_003036.4(SKI):c.953dup:p.Arg319fs	coding	Pathogenic
1	2405825	GA	G	A2405826C	PEX10	NM_002617.4(PEX10):c.921del:p.Leu309fs	coding	Pathogenic
1	2406599	GCT	G	T2406605C	PEX10	NM_002617.4(PEX10):c.795_796del:p.Arg265fs	coding	Pathogenic/Likely_pathogenic
1	2406896	CTG	C	G2406898A	PEX10	NM_002617.4(PEX10):c.601-3_601-2del	coding	Pathogenic
1	2406898	G	GT	A2406900T	PEX10	NM_002617.4(PEX10):c.601-4dup	coding	Pathogenic
1	2406908	TG	T	G2406910C	PEX10	NM_002617.4(PEX10):c.601-14del	coding	Pathogenic
1	2408544	CCT	C	C2408545G	PEX10	NM_002617.4(PEX10):c.506_507del:p.Gln169fs	coding	Pathogenic
1	2408544	CCTGT	C	T2408548A	PEX10	NM_002617.4(PEX10):c.504_507del:p.Gln169fs	coding	Pathogenic
1	2408555	AC	A	C2408556G	PEX10	NM_002617.4(PEX10):c.496del:p.Val166fs	coding	Pathogenic
1	2408555	ACGAAGACCGCC	A	A2408558C	PEX10	NM_002617.4(PEX10):c.486_496del:p.Ala163fs	coding	Pathogenic
1	2408576	GC	G	C2408579T	PEX10	NM_002617.4(PEX10):c.475del:p.Ala159fs	coding	Pathogenic
1	2408612	TGACGCATCCA	T	A2408614C	PEX10	NM_002617.4(PEX10):c.430_439del:p.Trp144fs	coding	Pathogenic
1	2408635	T	TGAGCAGCCACGCCCAC	C2408652G	PEX10	NM_002617.4(PEX10):c.401_416dup:p.Gly140fs	coding	Pathogenic
1	2408664	TC	T	C2408668T	PEX10	NM_002617.4(PEX10):c.387del:p.Ser130fs	coding	Pathogenic
1	2409100	CT	C	T2409101G	PEX10	NM_002617.4(PEX10):c.194-243del	noncoding	Benign
1	2410405	TGA	T	A2410409C	PEX10	NM_002617.4(PEX10):c.157_158del:p.Ser53fs	coding	Pathogenic
1	2412476	C	CG	C2412483G	PEX10	NM_002617.4(PEX10):c.26dup:p.Glu10fs	coding	Pathogenic
1	3069056	AGGC	A	G3069079C	PRDM16	Single_allele	noncoding	Benign
1	3402771	C	CCTCGTT	T3402781G	PRDM16	NM_022114.4(PRDM16):c.677-16_677-11dup	noncoding	Benign/Likely_benign
1	3403037	A	ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG	C3403093T	PRDM16	NM_022114.4(PRDM16):c.884+64_884+94dup	noncoding	Benign
1	3403037	ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG	A	T3403062C	PRDM16	NM_022114.4(PRDM16):c.884+64_884+94del	noncoding	Benign
1	3433539	CCCGCCCTGCCCACGCGCTCACCTGCCTGTCTGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCT	C	C3433540G	PRDM16	NM_022114.4(PRDM16):c.3697-137_3697-68del	noncoding	Benign
1	3731039	CT	C	T3731040A	TP73	NM_005427.4(TP73):c.1459del:p.Tyr487fs	coding	Pathogenic
1	3815090	C	CT	G3815091T	CEP104	NM_014704.4(CEP104):c.*311_*312insA	noncoding	Benign
1	3825765	C	CAA	G3825767A	CEP104	NM_014704.4(CEP104):c.2356_2357insTT:p.Cys786fs	coding	Pathogenic
1	3829332	CTTTT	C	T3829333G	CEP104	NM_014704.4(CEP104):c.2081_2084del:p.Gln694fs	coding	Pathogenic
1	3829932	C	CA	T3829937A	CEP104	NM_014704.4(CEP104):c.1901dup:p.Leu634fs	coding	Pathogenic
1	3830776	CAA	C	A3830794G	CEP104	NM_014704.4(CEP104):c.1836+268_1836+269del	noncoding	Benign
1	3830776	CA	C	A3830795G	CEP104	NM_014704.4(CEP104):c.1836+269del	noncoding	Benign
1	3833651	AC	A	C3833652A	CEP104	NM_014704.4(CEP104):c.1659+210del	noncoding	Benign
1	3835164	G	GT	A3835175T	CEP104	NM_014704.4(CEP104):c.1318-82dup	noncoding	Benign
1	3836468	G	GT	A3836493T	CEP104	NM_014704.4(CEP104):c.1317+3dup	noncoding	Benign
1	3836468	G	GTT	A3836493T	CEP104	NM_014704.4(CEP104):c.1317+3_1317+4dup	noncoding	Benign
1	3836468	G	GTTT	A3836493T	CEP104	NM_014704.4(CEP104):c.1317+3_1317+5dup	noncoding	Benign
1	3836479	T	TTTG	T3836482G	CEP104	NM_014704.4(CEP104):c.1317+15_1317+16insAAC	noncoding	Benign
1	3844709	G	GA	T3844717A	CEP104	NM_014704.4(CEP104):c.566+191dup	noncoding	Benign
1	3847387	GA	G	A3847391T	CEP104	NM_014704.4(CEP104):c.426+87del	noncoding	Benign
1	3848531	C	CAAAAA	G3848548A	CEP104	NM_014704.4(CEP104):c.287+61_287+65dup	noncoding	Benign
1	3848531	C	CA	G3848548A	CEP104	NM_014704.4(CEP104):c.287+61dup	noncoding	Benign
1	5863878	G	GC	A5863883C	NPHP4	NM_015102.5(NPHP4):c.4140+11dup	noncoding	Benign
1	5864044	AG	A	G5864048A	NPHP4	NM_015102.5(NPHP4):c.3997-12del	noncoding	Benign
1	5864394	GGTGGCAATCC	G	G5864395A	NPHP4	NM_015102.5(NPHP4):c.3930_3939del:p.Asp1311fs	coding	Pathogenic
1	5865118	TGA	T	A5865122G	NPHP4	NM_015102.5(NPHP4):c.3798_3799del:p.His1267fs	coding	Pathogenic
1	5865141	CCTCA	C	C5865144G	NPHP4	NM_015102.5(NPHP4):c.3773_3776del:p.Val1258fs	coding	Pathogenic
1	5866476	AG	A	G5866477C	NPHP4	NM_015102.5(NPHP4):c.3559-19del	noncoding	Benign/Likely_benign
1	5866521	TA	T	A5866524T	NPHP4	NM_015102.5(NPHP4):c.3559-64del	noncoding	Benign
1	5867081	TG	T	G5867087T	NPHP4	NM_015102.5(NPHP4):c.3506del:p.Pro1169fs	coding	Pathogenic
1	5867842	CCA	C	C5867845G	NPHP4	NM_015102.5(NPHP4):c.3368_3369del:p.Val1123fs	coding	Pathogenic
1	5874618	AC	A	C5874621T	NPHP4	NM_015102.5(NPHP4):c.3083del:p.Gly1028fs	coding	Pathogenic
1	5874907	G	GT	G5874909T	NPHP4	NM_015102.5(NPHP4):c.3010dup:p.Thr1004fs	coding	Pathogenic
1	5875009	A	AG	C5875012G	NPHP4	NM_015102.5(NPHP4):c.2908dup:p.Leu970fs	coding	Pathogenic
1	5875334	G	GT	C5875336T	NPHP4	NM_015102.5(NPHP4):c.2818-235dup	noncoding	Benign
1	5887425	GTGGGA	G	T5887426G	NPHP4	NM_015102.5(NPHP4):c.2341_2345del:p.Ser781fs	coding	Pathogenic
1	5904752	AG	A	G5904754T	NPHP4	NM_015102.5(NPHP4):c.2007del:p.Phe670fs	coding	Pathogenic
1	5904760	TAC	T	C5904764G	NPHP4	NM_015102.5(NPHP4):c.1998_1999del:p.Tyr667fs	coding	Pathogenic
1	5909134	T	TG	C5909141G	NPHP4	NM_015102.5(NPHP4):c.1503+17dup	noncoding	Benign
1	5933177	CT	C	T5933179G	NPHP4	NM_015102.5(NPHP4):c.1271del:p.Lys424fs	coding	Pathogenic
1	5947139	A	ACT	C5947143T	NPHP4	NM_015102.5(NPHP4):c.1082_1083dup:p.Tyr362fs	coding	Pathogenic
1	5947874	GA	G	A5947883G	NPHP4	NM_015102.5(NPHP4):c.992+195del	noncoding	Benign
1	5961797	AT	A	T5961799C	NPHP4	NM_015102.5(NPHP4):c.669del:p.Glu223fs	coding	Pathogenic
1	5986228	GCT	G	C5986233G	NPHP4	NM_015102.5(NPHP4):c.60_61del:p.Arg20fs	coding	Pathogenic
1	6424707	T	TGCGGG	T6424729C	ESPN	Single_allele	noncoding	Benign
1	6439999	ACTT	A	T6440005C	ESPN	NM_031475.3(ESPN):c.489-249_489-247del	noncoding	Benign
1	6440008	C	CA	G6440019A	ESPN	NM_031475.3(ESPN):c.489-236dup	noncoding	Benign
1	6440530	C	CG	C6440538G	ESPN	NM_031475.3(ESPN):c.676-89dup	noncoding	Benign
1	6440566	C	CG	C6440570G	ESPN	NM_031475.3(ESPN):c.676-57dup	noncoding	Benign
1	6445949	AC	A	C6445954T	ESPN	NM_031475.3(ESPN):c.1464+19del	noncoding	Benign/Likely_benign
1	6451850	TTC	T	C6451852G	ESPN	NM_031475.3(ESPN):c.2081_2082del:p.Ser694fs	coding	Pathogenic
1	6469126	TC	T	C6469128T	PLEKHG5	NM_020631.6(PLEKHG5):c.2164del:p.Glu722fs	coding	Benign
1	6469215	CTG	C	T6469218C	PLEKHG5	NM_020631.6(PLEKHG5):c.2074_2075del:p.Gln692fs	coding	Pathogenic
1	6469690	AG	A	G6469697T	PLEKHG5	NM_020631.6(PLEKHG5):c.1801-15del	noncoding	Benign
1	6470794	GCAGCAGCGGGTACTTGGTGAGCCGCT	G	C6470795G	PLEKHG5	NM_020631.6(PLEKHG5):c.1457_1482del:p.Gln486fs	coding	Pathogenic
1	6474503	CA	C	A6474504G	PLEKHG5	NM_020631.6(PLEKHG5):c.386del:p.Leu129fs	coding	Pathogenic
1	6485977	A	AC	A6485987C	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+5651dup	noncoding	Benign
1	6485977	A	ACC	A6485987C	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+5651_-88+5652dup	noncoding	Benign
1	6485977	AC	A	C6485986A	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+5659del	noncoding	Benign
1	6490476	GTCTAAGGC	G	T6490487G	PLEKHG5	NM_020631.6(PLEKHG5):c.-88+1153_-88+1160del	coding	Benign
1	6825153	ATGTC	A	T6825156C	CAMTA1	NM_015215.4(CAMTA1):c.180_183del:p.Leu61fs	coding	Pathogenic
1	7663384	CA	C	A7663385G	CAMTA1	NM_015215.4(CAMTA1):c.838del:p.Ser280fs	coding	Pathogenic/Likely_pathogenic
1	7663701	CG	C	G7663703T	CAMTA1	NM_015215.4(CAMTA1):c.1156del:p.Val386fs	coding	Pathogenic
1	7664344	C	CA	G7664346A	CAMTA1	NM_015215.4(CAMTA1):c.1798dup:p.Ser600fs	coding	Pathogenic
1	7751268	CA	C	A7751276T	CAMTA1	NM_015215.4(CAMTA1):c.4767del:p.Lys1589fs	coding	Pathogenic
1	7920925	TA	T	A7920935T	TNFRSF9	NM_001561.6(TNFRSF9):c.680-3del	noncoding	Benign
1	7920925	T	TA	T7920936A	TNFRSF9	NM_001561.6(TNFRSF9):c.680-12dup	noncoding	Benign
1	7933267	GA	G	A7933270G	TNFRSF9	NM_001561.6(TNFRSF9):c.573del:p.Ala193fs	coding	Pathogenic/Likely_pathogenic
1	7938830	TAAGA	T	A7938834G	TNFRSF9	NM_001561.6(TNFRSF9):c.101-6_101-3del	noncoding	Benign
1	7961850	G	GGTGCTGGACGGTGTCCCT	G7961886T	PARK7	NM_007262.5(PARK7):c.-24+75_-24+92dup	noncoding	Benign
1	7961850	GGTGCTGGACGGTGTCCCT	G	T7961868G	PARK7	NM_007262.5(PARK7):c.-24+75_-24+92del	noncoding	Benign
1	7962712	CAG	C	A7962713G	PARK7	NM_007262.5(PARK7):c.-23-50_-23-49del	noncoding	Benign
1	7962740	C	CT	A7962760T	PARK7	NM_007262.5(PARK7):c.-23-4dup	noncoding	Benign
1	7962740	CT	C	T7962759A	PARK7	NM_007262.5(PARK7):c.-23-4del	noncoding	Benign
1	7962740	CTT	C	T7962758A	PARK7	NM_007262.5(PARK7):c.-23-5_-23-4del	noncoding	Benign
1	7969328	G	GT	A7969333T	PARK7	NM_007262.5(PARK7):c.193-13dup	noncoding	Benign
1	7969440	TG	T	G7969450A	PARK7	NM_007262.5(PARK7):c.252+46del	noncoding	Benign
1	7969449	G	GA	G7969450A	PARK7	NM_007262.5(PARK7):c.252+45_252+46insA	noncoding	Benign
1	7969584	CT	C	T7969598G	PARK7	NM_007262.5(PARK7):c.252+194del	noncoding	Benign
1	7969584	CTT	C	T7969597G	PARK7	NM_007262.5(PARK7):c.252+193_252+194del	noncoding	Benign
1	7984636	TAA	T	A7984638G	PARK7	NM_007262.5(PARK7):c.410-256_410-255del	noncoding	Benign
1	8358580	GCTCCCGCTCTCGGAT	G	T8358605C	RERE	NM_001042681.2(RERE):c.3925ATCCGAGAGCGGGAG[1]:p.1309IRERE[1]	coding	Benign
1	8614630	T	TG	T8614637G	RERE	NM_001042681.2(RERE):c.452dup:p.Ala152fs	coding	Pathogenic/Likely_pathogenic
1	8656262	CTCTTTG	C	T8656283C	RERE	NM_001042681.2(RERE):c.12CAAAGA[3]:p.4DK[3]	coding	Benign
1	9038388	CA	C	A9038389G	SLC2A5	NM_003039.3(SLC2A5):c.1174+42del	noncoding	Benign
1	9057292	TA	T	A9057315G	SLC2A5	NM_003039.3(SLC2A5):c.293+155del	noncoding	Benign
1	9716947	AC	A	C9716951G	PIK3CD	NM_005026.5(PIK3CD):c.781-8del	noncoding	Benign
1	9717639	G	GGATA	G9717645A	PIK3CD	NM_005026.5(PIK3CD):c.1020+15_1020+18dup	noncoding	Benign
1	9720872	TG	T	G9720874T	PIK3CD	NM_005026.5(PIK3CD):c.1654del:p.Val552fs	coding	Pathogenic
1	9723255	GAT	G	A9723256G	PIK3CD	NM_005026.5(PIK3CD):c.2558_2559del:p.Asp853fs	coding	Pathogenic
1	9976248	C	CTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGTTTGCTTGCTTGCTACTATGTGATACCACTGTTAGAAAATAGAGGAAGCCTGCCTGGGCTTTCTGTGCCCCAAATGAGAAAGGGAAAATTGCAAGAAGATGTTATTATCATCAGTCTTCCTAAGTATAAAAGAGACAGGCAGATAATTTAAGGAAGAGAAGCATCCAGTGCTGCTTGATCATGGACAGGCCTGATTCGTGTGCTGCTTCCATGACAGCATCTGGGCAGGGAGTCACAGATCTCTGTGCCCATACCTTTGAAGCAGTTCTAGTTAAGGGTTCAAAAACCAGAGTAAGTGACATCTAATTATTTCTCTTTTTTTTTTTTCTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCATTCTCGGCTCACTGCGACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGACTGCCACCACGCCCCGCTAATGTTTTTGTATTTTTAGTAGAGATGGGGTTCTACCTTGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAACACCTAATTATTTCTTTTCTTTTCTTTTTTTTTTTGAGATAGAGGTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCGTTCCCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGCTGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCATCTCGGGCCTCCCAAAGTGCGGGGATTACAGAGGTGAGCCACCGCACCTGGCTGACACCTAATTATCTCTTAATGTTATTTTGATTTTTTTAAACTTTATTTTCTTTTTTTTGTTGGAGATGGGGCCTCGCTATGTTGCCTATGCTGACTGATCTCAAACTCCTGGCCTCAAGCAATCCTCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAAATGTGAGCTACCATGCCTGGCCTGTTGTTATCTTGAGTTTAAAATGAAAGGGCTTTCTGAAAAGCCTTTCTGTTTAGTATCTGTTCTTAGAGTTCTGAACTTTCCAGTGACTGACTGTATCATTTAGGGTTCAGACTAGGAAATAGAAACCCACTCTGGATATTTTAAGTGGAAAGAGATTTAAGTACTTAGGCAAAAAGTACTTAAAAGAGCTGAGGCCGGGCGTGGTAGCTCATGACTATAATCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGTCCAGTAGTTCAAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCCCATACCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCCTGAGCCTGGGAGGCAGAGGTTACGGTGAACTGAAATTGTGCCACTGCACTCCAGCCTGGGCAGCAGAATGAGACTGTCTCAAAAAACAACAACAAAAAAAAGTAAAAGGGCTGGAGAAGTGGAAGTCAGGGTCACTCCTCCGATGTTGCCGTCAGAGTTCAACAAACCAATTCCGCTTCTGCTGCTATTGAACTGTCTCAGTCTCCTGAAGTTGGTGACGGACAGTGGACTCCAGCGTCTAGCCACCACACCCACACTAGAAAGGATTACTGGCTATAAATAGCGCAATAATAGGATCAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGCAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCCCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGATTACTTGTCAGGCTCCACAGTCCCAGGATGATGGCCTCTGTCCTCCTTCTGCCTTCCAAATCTCTCAGGAGAGAATCTCATTAGCAGAAATCGCAGTCAAGTCCACAGCCTGCTGCAAGGACCTCTGGGAAGTGTGTTGGGCAGGATTGGGCACTGAGTCAGTAGGAAGTATCTCACACAGTGATCTCTCAAGAGGACTTCCTTTTCAGACTTGGCAGGGAGAAGAGTCTCCACTGCTTGATGGCAAAAAATTCTCCCATGAGGGAGCAAGTTCCTGGGCCACAGCCCTACCCGACCCTCTGGCTTTATAGTAACCTTATTGCCCATTAAATAGTCAACTCAGCTGCTCAGAAGGGTTGGGATGTAGGGGAATAAAGGCCCACAGTTGGATCCCACAAGTGTAGTTGATGTTATTTGGGTAACATTGCACAGTTTGAAAACAGTGGGCACCCTGCTGCCAGCCCAGAATAGAGCTATACACAAATCCTGCTTAGGGCCCCTTCCTTTAAGGCCTCAGGCCCTTGCCGCTCTAGGACCTTCTCCTTGGCGTTCTGGTTCTTTGTCACAAGATTAAGCCACACTCTTCCATGGTCAAGAGTGTGGGCTCTGGACCAGACTGCTGGGGTTCAAGTCCTGGCTCTGCTATTAATACTTTTAAGTTAAATGACCTTAGGCAAATTAGTCAGTGTCCTCTGTCAATGGGGTAATAAACAATTCTGATATGAGAGATGAGCAGCACATTAAAACCAGAAGTATTTTCAGTGAAACTAGCTGCAAGGTGGCAGTAATATAGTCGCTTTGTAATAACCAAAATGTTCAGGCTGATCATGGTGGCTCACATCTATAGTCCCAGCACTTTGGGAGTCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGTGTGGGCAACATAGTGAGACCTCATCTCTCCAAAAAACTAAAGTTAGCTGAACATGGTGGCACGTGCCTGTAGTCGCAGCTATCTGGGAGGCTGAGGCGGTAGGATCACTTGAGCCCAGGAGTTTTGGTTGCAGCGAGCTATGATTGTGCCACTGTGCTCCATCCTGGGCAATAGAGTGAGCCTGTGTCTCTGAAAAACAAACCAAAAAAACCCCAAAACATTCACTCAATCAAATTGTTATTGAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAATTGTTATTGAATGCCTCCTCATAGACTCTGCTAGGAGCTGGAGTAGCAACTGTAAGCCTCCTTTCTCCTTCCCTTACGGAGATAATAATATTTATGATATAGGATGTTGAGAAGATTTTTTTTTTCTTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGCGCAATCATGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGTGCCACCACACCCGGCTAATTTTCTATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGTCGAGAAGATTTTTAATTTTTTTTAGTCTTCCACAACAGTCATCTTATGTTGAGAAGACTTAATCAGATAATCCATGTAAAGGATTCAGTGTAATGTGTGGCATATGATAAATAATGTTGGCCAGGCACCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCTATAAATAATGTTAATGATATATTCTAATGGAGCATGTGAGAAAGAGAAATATTCTATTGTTTTGTTGTTTTATAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGGTTTGTATGTTTTAGCAGGACCCACGGACTAGAGTTGATAAGATTCTGTAGCTGAGCAAACCCCTGTGTATTTTTTTTTTTTTAGATGGAGTCTCGCTCTATCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCCTGCCACCACGCCTGTCTAATTTGTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCTGGGCCTTATTTTTTTTGTTTTATAGAGATGGGGTCTCACTATTTTGGCCAGGTTGGTCTTGAACTCCTGGCCCCAAGCAGTCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTCAGCCACTATGCCTGGCCTTTATTTTCATTTTATATTGCATACTTGTGGGTGTCTGGAAAATGCCCCTTGTTAGTTGCATGAAGTGAAGGAGAATAAAAGGCACTTGGAGCTTATTTCTCCTGCAGTGGTCTCTAATCTTTGAGGTGTCCTGGGTCTCTTTTGGGAATCTGATTCTCATAAAATAAAAGCTCATAAAAACTGTGAACTGTCATTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGGCACAATCTCGGCTTACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTATCTGGGGTTACAGGCGTGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGTATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTACCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCTAGAGCCACCGCACTCGGCCTAAGCCCTCATCCTTGAAAAGCACATACGTATCTTCATTTTGATACAGTGGGTTATTAGAAAAGTAAACCCCTTTCCACTTGGAGGAGGTAGAGGGGAAGAAAAAGCATACCCCAAAGCTCTGTTTTATTCTTCCCAGCTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAACTATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGACATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTTCCCATTTGGGGATCTGAAACAATCTGGGAGTTAATAACTGGGGAAAGAAGTTGTGATCTGTTGCCTAAACTAAAGCTTAAAAGTTTAGTAAAAATCGTCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGGGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGACCCCAGGTGGTGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTTAGTAAAAATCAATGGTAAGCTAAAATAAGTTTTTGTTTGTTTATTTGTTTTTGAGATGGAGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGCCGCATAACTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCACAGGTTCCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGCAAAAAAGCAAAACTCCATCTCAAAGAGAAAAAAAAAAAAGACCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAAGTGGGTGGATCACGTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAGAATACAAAAAATTAGCTGAGCATGGTGGTGGGCTCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGTGCCAT	G9983670A	NMNAT1	NM_022787.4(NMNAT1):c.299+526_*968dup	noncoding	Pathogenic
1	9981122	GAA	G	A9981124C	NMNAT1	NM_022787.4(NMNAT1):c.393_394del:p.Glu131fs	coding	Pathogenic
1	9982326	TG	T	G9982330C	NMNAT1	NM_022787.4(NMNAT1):c.469del:p.Ala157fs	coding	Pathogenic
1	9982532	CA	C	A9982537T	NMNAT1	NM_022787.4(NMNAT1):c.676del:p.Ile226fs	coding	Pathogenic
1	10210657	GCC	G	C10210659T	KIF1B	NM_001365951.3(KIF1B):c.-299_-298del	noncoding	Benign
1	10232301	CAT	C	T10232313A	KIF1B	NM_001365951.3(KIF1B):c.-26TA[5]	noncoding	Benign
1	10255967	T	TG	T10255968G	KIF1B	NM_001365951.3(KIF1B):c.107-280_107-279insG	noncoding	Benign
1	10267338	AT	A	T10267341C	KIF1B	NM_001365951.3(KIF1B):c.430-39del	noncoding	Benign
1	10277967	A	AT	C10277972T	KIF1B	NM_001365951.3(KIF1B):c.1038-15dup	noncoding	Benign
1	10295044	A	ATGG	C10295050G	KIF1B	NM_001365951.3(KIF1B):c.1591-39_1591-37dup	noncoding	Benign
1	10295970	T	TG	T10295971G	KIF1B	NM_001365951.3(KIF1B):c.1777+204_1777+205insG	noncoding	Benign
1	10302992	C	CCA	T10302997C	KIF1B	NM_001365951.3(KIF1B):c.2115+5747CA[3]	noncoding	Benign
1	10324118	C	CTTGAAA	C10324120T	KIF1B	NM_001365951.3(KIF1B):c.2537+57_2537+58insTGAAAT	noncoding	Benign
1	10324653	C	CT	G10324667T	KIF1B	NM_001365951.3(KIF1B):c.2538-92dup	noncoding	Benign
1	10336638	AT	A	T10336647C	KIF1B	NM_001365951.3(KIF1B):c.3044-10del	noncoding	Benign
1	10341951	CA	C	A10341968C	KIF1B	NM_001365951.3(KIF1B):c.3514-82del	noncoding	Benign
1	10365005	C	CAA	G10365022A	KIF1B	NM_001365951.3(KIF1B):c.4367-80_4367-79dup	noncoding	Benign
1	10365005	C	CA	G10365022A	KIF1B	NM_001365951.3(KIF1B):c.4367-79dup	noncoding	Benign
1	10365059	AT	A	T10365067C	KIF1B	NM_001365951.3(KIF1B):c.4367-33del	noncoding	Benign
1	10368221	C	CA	G10368223A	KIF1B	NM_001365951.3(KIF1B):c.4753-245dup	noncoding	Benign
1	10375383	TTTG	T	G10375401T	KIF1B	NM_001365951.3(KIF1B):c.5408+11TTG[5]	noncoding	Benign
1	10376525	TC	T	C10376529G	KIF1B	NM_001365951.3(KIF1B):c.5409-16del	noncoding	Benign
1	10638911	A	AGGCCGC	C10638918G	CASZ1	NM_001079843.3(CASZ1):c.*25_*30dup	noncoding	Benign
1	10639083	CTCGTCG	C	G10639092C	CASZ1	NM_001079843.3(CASZ1):c.5127CGA[2]:p.Asp1711_Asp1712del	coding	Benign
1	10643144	TG	T	G10643152C	CASZ1	NM_001079843.3(CASZ1):c.4020+15del	noncoding	Benign
1	10643146	G	GC	G10643147C	CASZ1	NM_001079843.3(CASZ1):c.4020+13_4020+14insG	noncoding	Benign
1	10650792	G	GC	G10650795C	CASZ1	NM_001079843.3(CASZ1):c.2817-39dup	noncoding	Benign
1	10653597	GAGGCTGGGGGTGCCCAC	G	T10653602A	CASZ1	NM_001079843.3(CASZ1):c.2443_2459del:p.Val815fs	coding	Pathogenic
1	10654273	A	AC	A10654275C	CASZ1	NM_001079843.3(CASZ1):c.1839-56dup	noncoding	Benign
1	10658674	CCTCTG	C	T10658686A	CASZ1	NM_001079843.3(CASZ1):c.1341-113CAGAG[2]	noncoding	Benign
1	11013450	TCA	T	C11013453G	TARDBP	NM_007375.4(TARDBP):c.-12-263_-12-262del	noncoding	Benign
1	11017202	CT	C	T11017220G	TARDBP	NM_007375.4(TARDBP):c.402+213del	noncoding	Benign
1	11021997	AG	A	G11021998T	TARDBP	NM_007375.4(TARDBP):c.715-126del	noncoding	Benign
1	11109993	C	CA	T11110011A	MTOR	NM_004958.4(MTOR):c.7367-281dup	noncoding	Benign
1	11130622	G	GGTGGTGGCAGTGGCGGCC	G11130649A	MTOR	NM_004958.4(MTOR):c.5502_5519dup:p.Ala1835_Thr1840dup	coding	Benign
1	11133503	A	AGTT	A11133508T	MTOR	NM_004958.4(MTOR):c.5247-309_5247-307dup	noncoding	Benign
1	11134060	TAA	T	A11134071G	MTOR	NM_004958.4(MTOR):c.5246+289_5246+290del	noncoding	Benign
1	11134060	TA	T	A11134072G	MTOR	NM_004958.4(MTOR):c.5246+290del	noncoding	Benign
1	11134333	GG	CC	G11134333C	MTOR	NM_004958.4(MTOR):c.5246+17_5246+18inv	noncoding	Benign
1	11139069	CAT	C	T11139073A	MTOR	NM_004958.4(MTOR):c.5130+233_5130+234del	noncoding	Benign
1	11146805	CAT	C	T11146807G	MTOR	NM_004958.4(MTOR):c.4571-16_4571-15del	noncoding	Benign
1	11167421	CA	C	A11167426G	MTOR	NM_004958.4(MTOR):c.4329+20del	noncoding	Benign
1	11210797	AAAG	A	A11210801T	MTOR	NM_004958.4(MTOR):c.3654+14_3654+16del	noncoding	Benign
1	11216069	A	AT	G11216070T	MTOR	NM_004958.4(MTOR):c.3117+78_3117+79insA	noncoding	Benign
1	11230912	AC	A	C11230917A	MTOR	NM_004958.4(MTOR):c.2779+12del	noncoding	Benign
1	11238766	C	CT	G11238781T	MTOR	NM_004958.4(MTOR):c.1787-163dup	noncoding	Benign
1	11241320	CA	C	A11241341T	MTOR	NM_004958.4(MTOR):c.1541+232del	noncoding	Benign
1	11241320	C	CAA	T11241342A	MTOR	NM_004958.4(MTOR):c.1541+212_1541+213dup	noncoding	Benign
1	11241320	C	CA	T11241342A	MTOR	NM_004958.4(MTOR):c.1541+212dup	noncoding	Benign
1	11243310	GA	G	A11243314G	MTOR	NM_004958.4(MTOR):c.1226-11del	noncoding	Benign
1	11248104	TGAG	T	G11248110A	MTOR	NM_004958.4(MTOR):c.841-13_841-11del	noncoding	Benign
1	11248111	G	GA	T11248119A	MTOR	NM_004958.4(MTOR):c.841-18dup	noncoding	Benign
1	11255846	CA	C	A11255865T	MTOR	NM_004958.4(MTOR):c.705+145del	noncoding	Benign
1	11255846	C	CAA	T11255866A	MTOR	NM_004958.4(MTOR):c.705+127_705+128dup	noncoding	Benign
1	11255846	C	CA	T11255866A	MTOR	NM_004958.4(MTOR):c.705+127dup	noncoding	Benign
1	11258498	GC	G	C11258500A	MTOR	NM_004958.4(MTOR):c.257del:p.Gly86fs	coding	Pathogenic
1	11790798	AG	A	G11790800A	MTHFR	NM_005957.5(MTHFR):c.1852del:p.Leu618fs	coding	Pathogenic
1	11790882	AG	A	G11790885C	MTHFR	NM_005957.5(MTHFR):c.1768del:p.Leu590fs	coding	Pathogenic
1	11791246	CT	C	T11791247G	MTHFR	NM_005957.5(MTHFR):c.1712del:p.Gln571fs	coding	Pathogenic
1	11791343	T	TG	T11791349G	MTHFR	NM_005957.5(MTHFR):c.1633-18dup	noncoding	Benign
1	11792357	GA	G	A11792359G	MTHFR	NM_005957.5(MTHFR):c.1552del:p.Ser518fs	coding	Pathogenic
1	11794399	CGA	C	G11794400A	MTHFR	NM_005957.5(MTHFR):c.1304_1305del:p.Phe435fs	coding	Pathogenic
1	11794750	TC	T	C11794753A	MTHFR	NM_005957.5(MTHFR):c.1144del:p.Asp382fs	coding	Pathogenic
1	11794773	G	GT	A11794775T	MTHFR	NM_005957.5(MTHFR):c.1121dup:p.Tyr374Ter	coding	Pathogenic
1	11794779	CTT	C	T11794781G	MTHFR	NM_005957.5(MTHFR):c.1114_1115del:p.Lys372fs	coding	Pathogenic
1	11794819	TCTCGGCGCTTGGG	T	C11794820G	MTHFR	NM_005957.5(MTHFR):c.1063_1075del:p.Pro355fs	coding	Pathogenic
1	11795265	TTTGA	T	A11795269G	MTHFR	NM_005957.5(MTHFR):c.860_863del:p.Ile287fs	coding	Pathogenic
1	11800245	CA	C	A11800246C	MTHFR	NM_005957.5(MTHFR):c.552del:p.Ser184fs	coding	Pathogenic
1	11801362	C	CT	A11801364T	MTHFR	NM_005957.5(MTHFR):c.273dup:p.Asp92fs	coding	Pathogenic
1	11802707	C	CT	A11802712T	MTHFR	NM_005957.5(MTHFR):c.236+170dup	noncoding	Benign
1	11802925	GA	G	A11802927T	MTHFR	NM_005957.5(MTHFR):c.191del:p.Phe64fs	coding	Pathogenic
1	11819573	CT	C	T11819574G	CLCN6	NM_001286.5(CLCN6):c.346+20del	noncoding	Benign
1	11824565	TGA	T	A11824569G	CLCN6	NM_001286.5(CLCN6):c.648+16_648+17del	noncoding	Benign
1	11828642	TC	T	C11828649G	CLCN6	NM_001286.5(CLCN6):c.1121+25del	noncoding	Benign
1	11828642	T	TC	G11828650C	CLCN6	NM_001286.5(CLCN6):c.1121+25dup	noncoding	Benign
1	11836986	TC	T	C11836990A	CLCN6	NM_001286.5(CLCN6):c.1981-9del	noncoding	Benign
1	11845740	TCACTTTCAAAC	T	A11845749G	NPPA	NM_006172.4(NPPA):c.*258_*268del	noncoding	Benign
1	11846911	GCC	G	C11846920T	NPPA	NM_006172.4(NPPA):c.450+200_450+201del	noncoding	Benign
1	11846911	GC	G	C11846921T	NPPA	NM_006172.4(NPPA):c.450+201del	noncoding	Benign
1	11846921	C	CT	A11846932T	NPPA	NM_006172.4(NPPA):c.450+182dup	noncoding	Benign
1	11949874	CA	C	A11949876G	PLOD1	NM_000302.4(PLOD1):c.272del:p.Lys91fs	coding	Pathogenic
1	11952620	CA	C	A11952621G	PLOD1	NM_000302.4(PLOD1):c.467-2del	noncoding	Pathogenic
1	11961091	TAA	T	A11961100G	PLOD1	NM_000302.4(PLOD1):c.1097+333_1097+334del	noncoding	Benign
1	11963601	GCCCAACAGCCTGCGGCTGCTGAT	G	C11963604A	PLOD1	NM_000302.4(PLOD1):c.1170_1192del:p.Asn391fs	coding	Pathogenic
1	11963771	C	CTCCTCCTCGTCT	T11963791C	PLOD1	NM_000302.4(PLOD1):c.1202+143_1202+154dup	noncoding	Benign
1	11964676	TC	T	C11964677T	PLOD1	NM_000302.4(PLOD1):c.1362del:p.Tyr455fs	coding	Pathogenic
1	11966311	GA	G	A11966312G	PLOD1	NM_000302.4(PLOD1):c.1646del:p.Glu549fs	coding	Pathogenic
1	11972853	T	TC	T11972859C	PLOD1	NM_000302.4(PLOD1):c.1903-14dup	noncoding	Benign/Likely_benign
1	11981920	G	GTTTTTT	G11981933T	MFN2	NM_014874.4(MFN2):c.-149-43_-149-38dup	noncoding	Benign
1	11981920	G	GTTTTTTT	G11981933T	MFN2	NM_014874.4(MFN2):c.-149-44_-149-38dup	noncoding	Benign
1	11981920	G	GTTTTTTTT	G11981933T	MFN2	NM_014874.4(MFN2):c.-149-45_-149-38dup	noncoding	Benign
1	11992623	CT	C	T11992624A	MFN2	NM_014874.4(MFN2):c.245del:p.Leu82fs	coding	Pathogenic
1	11992967	C	CT	A11992980T	MFN2	NM_014874.4(MFN2):c.311+289dup	noncoding	Benign
1	11992967	C	CTTT	A11992980T	MFN2	NM_014874.4(MFN2):c.311+287_311+289dup	noncoding	Benign
1	11992967	C	CTTTT	A11992980T	MFN2	NM_014874.4(MFN2):c.311+286_311+289dup	noncoding	Benign
1	11992967	C	CTTTTT	A11992980T	MFN2	NM_014874.4(MFN2):c.311+285_311+289dup	noncoding	Benign
1	11997038	CAA	C	A11997056G	MFN2	NM_014874.4(MFN2):c.475-241_475-240del	noncoding	Benign
1	11997038	CA	C	A11997057G	MFN2	NM_014874.4(MFN2):c.475-240del	noncoding	Benign
1	11997286	TCTGCCATCAGA	T	C11997290T	MFN2	NM_014874.4(MFN2):c.475-7_478del	noncoding	Pathogenic
1	11997379	C	CT	A11997381T	MFN2	NM_014874.4(MFN2):c.558dup:p.Lys187Ter	coding	Pathogenic
1	11998549	AAAAAC	A	A11998571C	MFN2	NM_014874.4(MFN2):c.600-220AAAAC[4]	noncoding	Benign
1	12003664	CA	C	A12003680T	MFN2	NM_014874.4(MFN2):c.1161-312del	noncoding	Benign
1	12003664	C	CA	T12003681A	MFN2	NM_014874.4(MFN2):c.1161-312dup	noncoding	Benign
1	12004934	GC	G	C12004937A	MFN2	NM_014874.4(MFN2):c.1495+10del	noncoding	Benign/Likely_benign
1	12005749	CAGAT	C	T12005753C	MFN2	NM_014874.4(MFN2):c.1538_1541del:p.Ile513fs	coding	Pathogenic
1	12005802	CTG	C	T12005805A	MFN2	NM_014874.4(MFN2):c.1590_1591del:p.Cys530_Asp531delinsTer	coding	Pathogenic
1	12005820	TG	T	G12005821A	MFN2	NM_014874.4(MFN2):c.1606del:p.Asp536fs	coding	Pathogenic
1	12006021	C	CCT	A12006024C	MFN2	NM_014874.4(MFN2):c.1716+91_1716+92dup	noncoding	Benign
1	12006161	T	TA	G12006165A	MFN2	NM_014874.4(MFN2):c.1716+233dup	noncoding	Benign
1	12007233	AGCCACCAAGTCCAGCAGTGAGTGGCCCTGTCGGACCCCAGCAGGGGACTTCCTTTAGGCAGGGTCAGCCCCATCTCCCTTCCCCATCTCTCTTCCCACGTGGCCTGGAAGCCACTGGGTCCTAAGCATCGTAGACCCTGGGCCTTCAGGTGTGCAGGGCCAGCTTTGAGGCCAGTCATGGGGAGAGGGGTCTCCCAGGGACACTTTGCGTCTTGGGCTGGGACGGGGTAGGCCTCTGGGCCCCTTGGTGAGGAAGAAATGGGAAGGCAAGAGATATTCCTAGTAGGAGTTTTAGAGGTTGCCTTGAAGAGCTTGGGCTGTGGATGTAGTTTTGAAGTTTTTGAACCCAGCCTGATCTTCGTGCACATCTTAGGTCAGGTGGGAATCTATTGCCTAATCTGGGGTGGTGGGGATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACACCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACCAGGTTGGGGGTAAGGTCATAGATCAACAGCATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGCAACAATCTGATTTCTCTATCTTTTCCCCACATTTCCCCCTTTTCTATTCGACAAAACCGCCATCGTCACCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGAAGGGGTGGTTGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCGGAGGCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGC	A	G12007234T	MFN2	NM_014874.4(MFN2):c.2054_2069+1171del	coding	Pathogenic
1	12244298	C	CCCTT	G12244303C	VPS13D	NM_015378.4(VPS13D):c.229_232dup:p.Trp78fs	coding	Pathogenic
1	12256690	G	GT	A12256711T	VPS13D	NM_015378.4(VPS13D):c.840+207dup	noncoding	Benign
1	12277143	TAGAG	T	G12277147A	VPS13D	NM_015378.4(VPS13D):c.3559_3562del:p.Glu1187fs	coding	Pathogenic
1	12279554	A	AG	A12279556G	VPS13D	NM_015378.4(VPS13D):c.4507dup:p.Glu1503fs	coding	Pathogenic
1	12403868	GC	G	C12403869A	VPS13D	NM_015378.4(VPS13D):c.11926del:p.Gln3976fs	coding	Pathogenic
1	15440315	T	TG	C15440317G	CTRC	NM_007272.3(CTRC):c.57dup:p.Pro20fs	coding	Pathogenic
1	15440388	GC	G	C15440389A	CTRC	NM_007272.3(CTRC):c.130del:p.Gln44fs	coding	Pathogenic
1	15440546	TTTGA	T	A15440550C	CTRC	NM_007272.3(CTRC):c.190_193del:p.Ile64fs	coding	Pathogenic
1	15443551	CTG	C	T15443552G	CTRC	NM_007272.3(CTRC):c.490_491del:p.Trp164fs	coding	Pathogenic
1	15444683	TGGTGGGGCTTCAG	T	G15444688A	CTRC	NM_007272.3(CTRC):c.576_588del:p.Trp191_Trp192insTer	coding	Pathogenic
1	15684510	G	GGGC	T15684525C	PLEKHM2	NM_015164.4(PLEKHM2):c.-46CGG[5]	noncoding	Benign
1	15684697	G	GGCGACCCTGCTGCCGCAGGGACTC	G15684699C	PLEKHM2	NM_015164.4(PLEKHM2):c.60+80_60+81insCGACCCTGCTGCCGCAGGGACTCG	noncoding	Benign
1	15716220	GT	G	T15716229C	PLEKHM2	NM_015164.4(PLEKHM2):c.61-8del	noncoding	Benign
1	15716229	TC	T	C15716230T	PLEKHM2	NM_015164.4(PLEKHM2):c.61-7del	noncoding	Benign
1	15720128	T	TTATA	A15720151T	PLEKHM2	NM_015164.4(PLEKHM2):c.652+209TA[13]	noncoding	Benign
1	15720146	AT	A	T15720147A	PLEKHM2	NM_015164.4(PLEKHM2):c.652+227del	noncoding	Benign
1	15720148	AT	A	T15720149A	PLEKHM2	NM_015164.4(PLEKHM2):c.652+229del	noncoding	Benign
1	15730046	TGGGCGGGGCGGGGCG	T	G15730066T	PLEKHM2	NM_015164.4(PLEKHM2):c.2208+118GGGCG[3]	noncoding	Benign
1	15730447	G	GA	G15730457A	PLEKHM2	NM_015164.4(PLEKHM2):c.2209-76dup	noncoding	Benign
1	15732203	CA	C	A15732204C	PLEKHM2	NM_015164.4(PLEKHM2):c.2626-146del	noncoding	Benign
1	15732542	T	TG	C15732548G	PLEKHM2	NM_015164.4(PLEKHM2):c.2805+18dup	noncoding	Benign
1	15928507	A	ACAGC	G15928513A	SPEN	NM_015001.3(SPEN):c.2269_2272dup:p.Arg758fs	coding	Pathogenic
1	15929195	A	AAGGC	G15929200A	SPEN	NM_015001.3(SPEN):c.2956_2959dup:p.Arg987fs	coding	Pathogenic
1	15929268	G	GA	G15929270A	SPEN	NM_015001.3(SPEN):c.3029dup:p.Asp1011fs	coding	Pathogenic
1	15931182	G	GAT	A15931184T	SPEN	NM_015001.3(SPEN):c.4943_4944insTA:p.Glu1648fs	coding	Pathogenic
1	15931246	CAGAAG	C	G15931253C	SPEN	NM_015001.3(SPEN):c.5013_5017del:p.Glu1671fs	coding	Pathogenic
1	15932245	A	AT	G15932247T	SPEN	NM_015001.3(SPEN):c.6006dup:p.Glu2003Ter	coding	Pathogenic
1	15932326	AAC	A	A15932327C	SPEN	NM_015001.3(SPEN):c.6087_6088del:p.Glu2029fs	coding	Pathogenic/Likely_pathogenic
1	15932458	CCAAAT	C	T15932463G	SPEN	NM_015001.3(SPEN):c.6223_6227del:p.Ser2075fs	coding	Pathogenic
1	15932464	CAA	C	A15932466G	SPEN	NM_015001.3(SPEN):c.6226_6227del:p.Lys2076fs	coding	Pathogenic
1	15932809	A	AT	A15932811T	SPEN	NM_015001.3(SPEN):c.6570dup:p.Lys2191Ter	coding	Pathogenic
1	15932878	CAG	C	A15932881C	SPEN	NM_015001.3(SPEN):c.6641_6642del:p.Glu2214fs	coding	Pathogenic/Likely_pathogenic
1	15933213	CTT	C	T15933214G	SPEN	NM_015001.3(SPEN):c.6974_6975del:p.Leu2325fs	coding	Pathogenic/Likely_pathogenic
1	15933567	GA	G	A15933568G	SPEN	NM_015001.3(SPEN):c.7328del:p.Glu2443fs	coding	Pathogenic
1	15933577	C	CCA	G15933580C	SPEN	NM_015001.3(SPEN):c.7338_7339dup:p.Arg2447fs	coding	Pathogenic
1	15933606	AGTGACCCG	A	G15933614C	SPEN	NM_015001.3(SPEN):c.7374_7381del:p.Val2459fs	coding	Pathogenic
1	15933610	AC	A	C15933613G	SPEN	NM_015001.3(SPEN):c.7373del:p.Pro2458fs	coding	Pathogenic
1	15933698	T	TG	A15933705G	SPEN	NM_015001.3(SPEN):c.7464dup:p.Ile2489fs	coding	Pathogenic
1	15933730	AG	A	G15933732T	SPEN	NM_015001.3(SPEN):c.7492del:p.Lys2497_Val2498insTer	coding	Pathogenic
1	15936184	A	AC	G15936191C	SPEN	NM_015001.3(SPEN):c.9950dup:p.Ala3318fs	coding	Pathogenic
1	15939337	TGA	T	A15939341T	SPEN	NM_015001.3(SPEN):c.10909_10910del:p.His3638fs	coding	Pathogenic
1	15939383	T	TC	A15939386C	SPEN	NM_015001.3(SPEN):c.10953dup:p.Asn3652fs	coding	Pathogenic
1	15941940	TTAAA	T	T15941945C	ZBTB17	NM_003443.3(ZBTB17):c.*21TTTA[1]	noncoding	Benign
1	15942982	T	TG	T15942989G	ZBTB17	NM_003443.3(ZBTB17):c.1828+76dup	noncoding	Benign
1	15944172	CTGGGTGAACAAGCTGA	C	G15944175A	ZBTB17	NM_003443.3(ZBTB17):c.1371+112_1371+127del	noncoding	Benign
1	16028147	A	AT	C16028149T	CLCNKA	NM_004070.4(CLCNKA):c.968+29dup	noncoding	Benign
1	16033558	CT	C	T16033559C	CLCNKA	NM_004070.4(CLCNKA):c.2017-52del	noncoding	Benign
1	16044238	CAG	C	A16044239G	CLCNKB	NM_000085.5(CLCNKB):c.-7-247_-7-246del	noncoding	Benign
1	16044378	C	CACACACACACACAT	G16044379A	CLCNKB	NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACACAT	noncoding	Benign
1	16044378	C	CACACACACAT	G16044379A	CLCNKB	NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACAT	noncoding	Benign
1	16045785	G	GC	G16045786C	CLCNKB	NM_000085.5(CLCNKB):c.229+99_229+100insC	noncoding	Benign
1	16045787	GT	G	T16045788G	CLCNKB	NM_000085.5(CLCNKB):c.229+102del	noncoding	Benign
1	16046614	C	CAG	G16046615A	CLCNKB	NM_000085.5(CLCNKB):c.309_310insAG:p.Val104fs	coding	Pathogenic
1	16046704	CCTT	C	T16046707C	CLCNKB	NM_000085.5(CLCNKB):c.358+44_358+46del	noncoding	Benign
1	16049735	A	AT	A16049736T	CLCNKB	NM_000085.5(CLCNKB):c.866+33_866+34insT	noncoding	Benign
1	16049743	TC	T	C16049749A	CLCNKB	NM_000085.5(CLCNKB):c.866+47del	noncoding	Benign
1	16051504	CA	TG	C16051504T	CLCNKB	NM_000085.5(CLCNKB):c.1254_1255inv:p.Ile419Val	coding	Benign
1	16052004	C	CTCCTG	C16052013T	CLCNKB	NM_000085.5(CLCNKB):c.1408+188_1409-186dup	noncoding	Benign
1	16052441	AG	A	G16052446T	CLCNKB	NM_000085.5(CLCNKB):c.1622+35del	noncoding	Benign
1	16052520	G	GGGGGCTGGGA	A16052528G	CLCNKB	NM_000085.5(CLCNKB):c.1622+116_1622+117insGGAGGGGCTG	noncoding	Benign
1	16056332	CTCT	C	T16056335C	CLCNKB	NM_000085.5(CLCNKB):c.1930-87_1930-85del	noncoding	Benign
1	16056521	CG	C	G16056526C	CLCNKB	NM_000085.5(CLCNKB):c.2016+18del	noncoding	Benign
1	16056834	T	TC	G16056841C	CLCNKB	NM_000085.5(CLCNKB):c.2017-29dup	noncoding	Benign
1	16129424	CCTGACTTACTCGTTGGTCAT	C	A16129428C	EPHA2	NM_004431.5(EPHA2):c.2815_2825+9del	noncoding	Pathogenic
1	16129431	TA	T	A16129432C	EPHA2	NM_004431.5(EPHA2):c.2825+2del	noncoding	Pathogenic
1	16131581	C	CA	T16131594A	EPHA2	NM_004431.5(EPHA2):c.2475+128dup	noncoding	Benign
1	16134248	TAAC	T	C16134254G	EPHA2	NM_004431.5(EPHA2):c.1682+217_1682+219del	noncoding	Benign
1	16148344	AC	A	C16148349T	EPHA2	NM_004431.5(EPHA2):c.823+33del	noncoding	Benign
1	16986749	CCCCAGGGCTCCT	C	A16986753T	ATP13A2	NM_022089.4(ATP13A2):c.3235+44_3235+55del	noncoding	Benign
1	16991838	AG	A	G16991840T	ATP13A2	NM_022089.4(ATP13A2):c.2146del:p.Asp715_Leu716insTer	coding	Pathogenic
1	16993723	A	AGCAGGGGCCCCACAGGCAGGCG	G16993748A	ATP13A2	NM_022089.4(ATP13A2):c.1633_1654dup:p.Leu552fs	coding	Pathogenic
1	16996343	TG	T	G16996351C	ATP13A2	NM_022089.4(ATP13A2):c.1306+42del	noncoding	Benign
1	16996871	T	TG	C16996878G	ATP13A2	NM_022089.4(ATP13A2):c.1195+143dup	noncoding	Benign
1	16997101	GC	G	C16997103G	ATP13A2	NM_022089.4(ATP13A2):c.1113del:p.His372fs	coding	Pathogenic
1	17002326	TG	T	G17002328C	ATP13A2	NM_022089.4(ATP13A2):c.604del:p.His202fs	coding	Pathogenic
1	17018721	CT	C	T17018731G	SDHB	NM_003000.3(SDHB):c.*159del	noncoding	Benign
1	17019129	C	CT	A17019136T	SDHB	NM_003000.3(SDHB):c.766-177dup	noncoding	Benign
1	17022571	CTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGT	C	T17022574A	SDHB	NM_003000.3(SDHB):c.743_765+36del	noncoding	Pathogenic
1	17022685	G	GCT	C17022689T	SDHB	NM_003000.3(SDHB):c.686_687dup:p.Arg230fs	coding	Pathogenic
1	17022691	CTG	C	T17022694A	SDHB	NM_003000.3(SDHB):c.680_681del:p.Thr227fs	coding	Pathogenic
1	17022711	TC	T	C17022712A	SDHB	NM_003000.3(SDHB):c.661del:p.Asp221fs	coding	Pathogenic
1	17024016	CA	C	A17024017G	SDHB	NM_003000.3(SDHB):c.598del:p.Trp200fs	coding	Pathogenic
1	17024016	C	CA	G17024018A	SDHB	NM_003000.3(SDHB):c.598dup:p.Trp200fs	coding	Pathogenic
1	17027777	AG	A	G17027778A	SDHB	NM_003000.3(SDHB):c.511del:p.Leu171fs	coding	Pathogenic
1	17027818	CA	C	A17027821T	SDHB	NM_003000.3(SDHB):c.470del:p.Tyr156_Leu157insTer	coding	Pathogenic
1	17027822	TA	T	A17027824G	SDHB	NM_003000.3(SDHB):c.466del:p.Tyr156fs	coding	Pathogenic
1	17027842	C	CTG	C17027847T	SDHB	NM_003000.3(SDHB):c.445_446dup:p.Gln149fs	coding	Pathogenic
1	17027878	G	GGAAGAAGAA	A17027903G	SDHB	NM_003000.3(SDHB):c.424-37TTC[11]	noncoding	Benign/Likely_benign
1	17028610	TC	T	C17028612T	SDHB	NM_003000.3(SDHB):c.412del:p.Asp138fs	coding	Pathogenic
1	17028687	AGCTAGAGTGTT	A	T17028690C	SDHB	NM_003000.3(SDHB):c.325_335del:p.Asn109fs	coding	Pathogenic
1	17028707	TGATGTTCATTG	T	G17028708C	SDHB	NM_003000.3(SDHB):c.305_315del:p.Ala102fs	coding	Pathogenic
1	17029669	TGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGACGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACGTTGGTCAGGCTGGTCTCGAACTCTGACCTTGTGATCTGCCCGCCTCGGCCTCTGAATGCCTGGCCTCACCTTTTTTTTTTTTTTTTTTAATGGAAAGGGAGTCTATGTTTCCCAGGCTGGTCTTAAACTCCTAGCCTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATACAATTCTGCTTTATTTTTTTTAGTCCAGATGGGTCACACCTTATGTTCTTGGTTCTGAAAGAGTCCTACAGGGAAAGGTTACTGAAAAGCATCTACCTTTCCTGTGTTGCCAGGACTTAATGGGGAAGGCTGCTGTTTAACTGCCGCAGAATGTTCCCTGAACAGCAGGACTCAGCCGAACTATCATAATATCCATCAGCATTTGCAACGCTAAATAAGATTAGCTGAATCAAAACAGATGTCTTAAAAGACTTGAAATGCTTGAAATGTACAGCTGAACAGATAAAAAGCCATGGGCCGGTATCAATACTGGCTTTTCCTTTTTTTTTAAGGTTTTCTTAGAAAAAAGCTCAGTGTCCTCACAGAATCAAGCTACTCTCTGCTTTTGTTTTATCCCAGGTGTTCCAAGCCAAGTCAGTGCCTGAGAGAGCAGATCTGGAGTCTGGAGTCTGACAGCTTTGGCTGACTCCCGGCTCTCAAGTCACTCTCTATGTGTCCTTGTGGAAGTCCATTACCCTCTCTGGGCCTCACCTTTAAATTGAAGGTAGATAATAAGCACAGTCATCTACCTCATGTCCAGTGCACAGAACAGAGCCGGGCACACAGTCTGGCTCCACGGACATCAGGCCAGTCGGTCTTCACTGCACCCTGTGCAATTTTTGCTATACCTGAGAACCACCTGAATCAACTTTCTTTAAAGTATCTCTTGGGTTTTCTTTAACTTGTTTTGCTTAAATTCACATTAAAAAACCACTTATATCCCTATTATACCATCATTAGTAATTATATTTTTCTTTTTTTTTTTTTTGAGACTGTCTCGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCACCTCCCGGGTTCCTGCCTCAGCCTCCCGAGTAGCCAGGATTACAGGCGTCCGCTATCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGTTGATCTCGAACTCCTGACGCCAGCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCAGTAATTATATTTTTCTAATACAGAAAATGAATACATTGCTATTCATGTAGAAAATGTTAGTCTGCACACTGCCTCAAATGGGCTCATGTGGCACCAGCAGCACAAGTAACCACATGCTGAGGGAGACACTGTACCAGCCAATCCAGAACACAGCTACCAAGGACATGTCATGCTGGGAGCTGAGGGAGACTCACACATCTCCCCTGCTGGACAAGCATAAGTGCCAGACAGAAACTCTCCACTGCTCCCTTAATAAAAGAGCTCAGCAGCATGGAAGGTGCCAGCCAGCAGGTCCTAGCTAGGCCTTGAAGCGTGGAGCAGCTCACAGGGACCGCCAGATGCAGTAACCACAGGATAGAATGCTCCTGAAGGAAAGTAAACTCAGAAACCAGAACTTGCACCATGGTTAGAATTTTGGATGCATTTACCCAAGAAAAGGAATTAGGTTGCACAGCAAGTTCACCCAGCAGAGAGCTGCAGCTGTTTTCCAGATGTCTCTATCAGCTTTGGCCAGCCCAAGCCTCTTTGGAAGACCACAAGTATCTGGAGCCCAACAGGAATGAAATGCTCACCTTCTCTGCATGATCTTCGGAAGGTCAAAGTAGAGTCAACTTCATTCTTAATCTTGATTAAAGCATCCAATACCATGGGGCCACATCTAACAAAGAAAAATATCCAGTGGTATTTATGTAACGTTCAACCTCCCTACACTTTATCATAATATAATCGGAGACACCTGGATGTATTAGCTTATCCATTTGGTCTTCTCAGGTCACCTTCGGAATTTGTTCTGTAGTTTTGTTTTTGCAGATTCTTACATTTTAAGTACTGCACAGTTCTATTTTGATGATCACAGTGCAAACACATTTCTAGGAAATGGAAAGCTAAAGTAGTAGTAGACAAGTATGACACAACTTCCATACAGTGGCCGAGTTTTTGTTTTTTACTTCTGAAGCTCCCTGCAAAGTTTTTCCAAATAATTTATTTCAAATTTTAGTTTGATTTTTAGGATGTAGACAATAGTTTTAAATAGTAATTAATAATACATAACCATAAGAGAAGACATAGTACAGAGAATAAAAGACACCCAATCACTCACAGTCCCCCAGTCAAATCACTGTGAGCCTCCTAGAACATACAAGGGCAGTGACATGGTACTAAGCGGAGCATCCCTGGGCGTGGGACCTGGAGTGCCGGCCTGGCAGCCAAGAGACTGGTCTGCACCATGGCTGAGCCACTTACCAGCTTGCAGGCAAATGATTTAATTTCTGCCTAGGCATTTAATCCACTGAGTGCAGAGAGCAGCACCTGCATCCCACAGGATTGCTGGAGGTGAGTTAATACACACGAGATCTTTACAGCAGCATCTGACATATAAATCATAGTTTAACTATAATAATCATCATGCAGAAACTGTGATTCTACGGAAATTACTCTCTGAACCTCAGTTTATCTGTAGAGTTAATATTTACACCACAGGGTTACTGTGAAAATTACATAAAAATATGTAATTTTTCATAGTACCTGGCATACAGTAAGTGCTCCACAAATCTATTTTCTGGTTGCCACCCTGCCCCCATTCCACTCACTAATTTTCTATGCATGAGATTAAAAATATACTTAAAAATACGTCATTTCCTTTAGTACTATCTGTATTTCATTTTTTTTCTTTTTTTTCTTGAGACGGGGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGATCTGTAACCTCCGCATCCCAGCCTCAAGAGATCCTCCTGCCTCAGCCCCCCAGTAGCTGGGACTACAGGTATGTGCCACCACATCCAGCTTAATTTTTGTATTTTTTTGTAGAGGTGGGATTTCGCCATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGATTCTCAAAGTGTTGGGATTATGGGTGTGAGGCAATGGTGCGATCTCGGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCGGCAAATTTTTGTATTTTTAGTAGAGATAGGTTTTCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTTCCCAAATGCTGGGATTACAGGTGTGAGCGACTGCGTCTGGCCCATTATCTGTATTTGTATCAGCACTATGTAGACGTCCTTTCTGCTGGACCTCTGCTAACACTGGGAATTGGAAGCTTTAAAAACCTTTGCTATTCTGATACTGGAGAAGTGTTATTGTTTTCAGTGTTTTAAATCGAGACTTTTGAATACTACATAGGTTGAATGTTTGTCATAAATTTACTAATTTTTCTTTATTTCCCAATTATTTATTGAACATTTACTCTGCCAGGTTCTGTTCTAGATGCTGGGGATGTAGCAGAGAATAAAAGAGACGAATACCACCTGCCCGCACAAAGCTCTGTTCCAGAGGACTCATTCTAGAGACTCAGTCTGTCCACATTCTTTGCCTCTGTTTACCAGGGTCTTGGAAATTCTTTTTCATGATCTGAGGCTCTTATATATTATATCTGTTGCCATTTCTGCTTCCTCCCTCACTGCCAATAGTAATGTGCTATTTGACTTCTAATTTTGGTAACAGAATTTTAAACATACATGAGTTAAATGTTTACATTAATAAAGGTGGCTATTCTTTCTTTTATAACATTATCTATCACTTTTAAGCCTAAACAGACCACTGCCCTTCCTGAGGTCTGATAAATACTTTACATTTTTTTCTACTTAAAAAAAATTTTAAGTTACTCCCCTAAAACTGCAAAAACTGTATCAGTTGTCCCAAATCACTGACTAAATCCTCTTTTGCTTCTTATTTGTAATACCTTTCTCCCATATTTAATACTGGGAACTTAGATAAAATTGAGTCTGTTTTGTTGCTACATTTTTATTCTAATGATCTGCCTGTTCTTGTCCTAGCATATTTTAAATGACAACAACATCTTTGTTTTTTTTACATTACAAAGGCTAATATTTGCAGCCTATAAAAATTTCAAATTGGCCAGGTGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCACTTTGGGAGGCCTTGGCGGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACGTGGTGAAACCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTTGCACGTGCCTGTAGTCCCAATTACTTGGGAGGCTGAGGCAGGAAAATTGCTTGAACCCCAGAGGCGGAGGTTGCAGTGAGCCGAGACCGCACCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTGTCTCAAAAAAATAAATAAATAAATAGATAAATAAATAAATAAATTCAAATCAAAGGTAAAAAGTAATCCTGCAGATCATACTGGGACAGAGAAAAATATTAAAAAGTCAAAGTCCTCTCTTTAAGCTGTTTCATGCTAAATTTCCTAATAGGTAGGGCTCATTAAAGAGTACAACATAAATTTTCTCAGATTTTACATAGATACCAAAATTGTTTGATATTCTGGGTCCCTTGCATTTCTATAAGATTTTTAGAATCAACTTGTCAACTTCTGCAGAAAAGGCAGGTGGGATTTTGATGGGGATTGCAATGAATCTGGAAATCAATTTGGAGACCACTGCCTCCTTAACAACATTAAGTCTTCCAACCCACAAACAGGGCATGTCTTTCCATTTATTTATGTCTTCTTAAATTTCTTTCAACAATGTTTTACAGTTTTTCAGCATATAAGTCTTTTACTTATTTGATTTTTGAGACAGGATCTCACTCTGTCGCCCAGGCTGGATGGAGTGCAGTGTTGTGATCACAGCTCACTGCAGGTTTGACCTCCCAGGCTCAAGTGATTCTCCCACCTCAGCCTCCAAGTAGCTGGGACTATAGGCACAGGAAGGTCATCAAGCCCAGCTAACTTTTTTTGTAGAGATGGGGTTTTGTCTTATTGCCCATATAATTTGTTCCTAAGAATTTCTTTTTTGATGCTGTTATATGGAAAATAGTTTTTAAATTTCATTTTAGGATTGTTCATTGCTAGTGTATAGAAATCCAATTTTTGTTTTTTTAACAGTACTTACAGGCTTTTTTCTAGGTAAGCAGGGTTTTACATATATAAATATAAATATTTATATAAATATGAATATATAAATATAAATATTTATATAAATATGAATATATAAATATAAATATTTATATAAATATGAATATATAAATATAAATACATATATAAATATATATGTATACACACACACACACACATTTTTTCTGTAGAGACTAAGTCTTGCTATTGTTGCCCAGGCTGGTCTCAAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCACAAAGAAAGTGCTAGTATTACAAGTGTGAGCCACCATGCCTAGCCTAGAAAAATACATTTATCTGCTAATATCTGCTACACGCCAGTATTTTCAGAAAAAGAATTATGCTGTTGTGAAAATGAAAGAATATAGCTATTTTTTGTGTGTGTATACATAGCTACAAAGTAGGGTTTCAGAGTCGGATTAGAAGGAAATAGAACTATAATTAAAACATGGTACAATATAAAATGAAGACTGACAGACATAGGTTGAAATAAACATGGACAAATTATGCATAATAAAAAACTAAACTACATTTGATTTCTGTATACCAGTTTTGTGTCCTCCAACCTTGCTGAATTTGTTCATTAGTTCTAATAGTTCCTAGGGGGCAATGTCTTATATTTTCTTTTCTTTTTTTTTTTTGAGACAGCGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGGGCATGGAATCATGGCTCACTGCAGCCTCGACCTCCTGGGTTCAAGTGATCCTCCCACCCCACCCTCCCAAGTAGCTCGGACTACAGGAGTGTGCCACCACACCTGGCAAATTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCACCTAGGTTCAAGCAATTCTTGTGCCTTA	T	T17029671C	SDHB	NM_003000.3(SDHB):c.201-4429_287-934del	noncoding	Pathogenic
1	17033096	CA	C	A17033098C	SDHB	NM_003000.3(SDHB):c.249del:p.Asp84fs	coding	Pathogenic
1	17033099	C	CTTCA	T17033107A	SDHB	NM_003000.3(SDHB):c.243_246dup:p.Val83Ter	coding	Pathogenic
1	17044885	AG	A	G17044887C	SDHB	NM_003000.3(SDHB):c.75del:p.Ser26fs	coding	Pathogenic
1	17044894	AT	A	T17044900A	SDHB	NM_003000.3(SDHB):c.73-7del	noncoding	Benign
1	17053977	C	CCGGCAACCGGCGCCTCAAGGAGAGTG	G17054002T	SDHB	NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG:p.Ala15delinsHisSerProTer	coding	Pathogenic
1	17053978	C	CGGCAACCGGCGCCTCAAGGAGAG	G17054005A	SDHB	NM_003000.3(SDHB):c.19_41dup:p.Pro14_Ala15insSerProTer	coding	Pathogenic
1	17053997	G	GA	G17053999A	SDHB	NM_003000.3(SDHB):c.22dup:p.Ser8fs	coding	Pathogenic
1	17053999	GAGG	AGT	G17053999A	SDHB	NM_003000.3(SDHB):c.18_21delinsACT:p.Ser8fs	coding	Pathogenic
1	17054002	G	GGCAACCGGCGCCTCAAGGAGAGT	G17054005A	SDHB	NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC:p.Ala15fs	coding	Pathogenic
1	17372249	G	GT	C17372251T	PADI6	NM_207421.4(PADI6):c.5dup:p.Ser3fs	coding	Pathogenic
1	17381970	T	TA	C17381973A	PADI6	NM_207421.4(PADI6):c.559dup:p.Thr187fs	coding	Pathogenic
1	17388407	G	GT	G17388409T	PADI6	NM_207421.4(PADI6):c.707dup:p.Leu237fs	coding	Pathogenic
1	17392192	T	TGA	G17392196A	PADI6	NM_207421.4(PADI6):c.1043_1044dup:p.Asp349fs	coding	Pathogenic
1	17401348	C	CT	G17401350T	PADI6	NM_207421.4(PADI6):c.1996dup:p.Cys666fs	coding	Pathogenic
1	18874717	T	TG	C18874719G	ALDH4A1	NM_003748.4(ALDH4A1):c.1461-137dup	noncoding	Benign
1	18890095	TC	T	C18890097A	ALDH4A1	NM_003748.4(ALDH4A1):c.72del:p.Arg23_Trp24insTer	coding	Pathogenic
1	19219694	CCT	C	C19219699G	EMC1	NC_000001.10:g.19546189_19546190del	coding	Pathogenic
1	19222646	G	GC	G19222651C	EMC1	NM_015047.3(EMC1):c.2564dup:p.Ile856fs	coding	Pathogenic
1	19223531	GCTCT	G	C19223534G	EMC1	NM_015047.3(EMC1):c.2237_2240del:p.Glu746fs	coding	Pathogenic
1	19223531	GCT	G	C19223536G	EMC1	NM_015047.3(EMC1):c.2239_2240del:p.Ser747fs	coding	Pathogenic
1	19223555	GT	G	T19223557G	EMC1	NM_015047.3(EMC1):c.2216del:p.Asn739fs	coding	Pathogenic
1	19227463	CA	C	A19227469G	EMC1	NM_015047.3(EMC1):c.2065-14del	noncoding	Benign
1	19232729	CT	C	T19232730G	EMC1	NM_015047.3(EMC1):c.1676del:p.Gln559fs	coding	Pathogenic
1	19232925	AC	A	C19232929A	EMC1	NM_015047.3(EMC1):c.1632+10del	noncoding	Benign
1	19235132	GC	G	C19235134T	EMC1	NM_015047.3(EMC1):c.1429del:p.Ala477fs	coding	Pathogenic
1	19238064	TG	T	G19238065T	EMC1	NM_015047.3(EMC1):c.1164del:p.Asp388fs	coding	Pathogenic
1	19238131	CAG	C	A19238136T	EMC1	NM_015047.3(EMC1):c.1096_1097del:p.Leu366fs	coding	Pathogenic
1	19239243	AC	A	C19239244A	EMC1	NM_015047.3(EMC1):c.1013del:p.Cys338fs	coding	Pathogenic
1	19239894	AG	A	G19239896A	EMC1	NM_015047.3(EMC1):c.877del:p.Leu293fs	coding	Pathogenic
1	19239959	T	TCCACTTCCAAATTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A19239975T	EMC1	NM_015047.3(EMC1):c.812_813insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATTTGGAAGTGG:p.Gly271_Phe272insAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
1	19239963	C	CT	C19239966T	EMC1	NM_015047.3(EMC1):c.808dup:p.Ser270fs	coding	Pathogenic
1	19242434	T	TACAGACTC	C19242443A	EMC1	NM_015047.3(EMC1):c.412_419dup:p.Arg141fs	coding	Pathogenic
1	20190663	G	GCACATGATAAGGCCCAAGTCC	G20190685C	UBXN10	NM_152376.5(UBXN10):c.103_123dup:p.His35_Ser41dup	coding	Benign
1	20633622	CCGGCCGGGCCTACGGCTTGGGG	C	T20633633C	PINK1	NM_032409.3(PINK1):c.85_106del:p.Tyr29fs	coding	Pathogenic
1	20637776	CCT	C	C20637777G	PINK1	NM_032409.3(PINK1):c.388-65_388-64del	noncoding	Benign
1	20645487	CA	C	A20645504C	PINK1	NM_032409.3(PINK1):c.960-56del	noncoding	Benign
1	20645487	C	CAAA	C20645505A	PINK1	NM_032409.3(PINK1):c.960-58_960-56dup	noncoding	Benign
1	20645487	C	CAA	C20645505A	PINK1	NM_032409.3(PINK1):c.960-57_960-56dup	noncoding	Benign
1	20645487	C	CA	C20645505A	PINK1	NM_032409.3(PINK1):c.960-56dup	noncoding	Benign
1	20645811	GGTTTTGTGTTCTAA	G	T20645814C	PINK1	NM_032409.3(PINK1):c.1123+91_1123+104del	noncoding	Benign
1	20645880	CG	C	G20645884T	PINK1	NM_032409.3(PINK1):c.1123+161del	noncoding	Benign
1	20648343	GC	G	C20648346T	PINK1	NM_032409.3(PINK1):c.1124-159del	coding	Benign
1	20649070	GC	G	C20649072T	PINK1	NM_032409.3(PINK1):c.1329del:p.Tyr444fs	coding	Pathogenic
1	20652604	C	CT	G20652606T	DDOST	NM_005216.5(DDOST):c.1170+16dup	noncoding	Benign/Likely_benign
1	20652814	G	GT	C20652818T	DDOST	NM_005216.5(DDOST):c.1063+34dup	noncoding	Benign
1	20653592	AC	A	C20653595T	DDOST	NM_005216.5(DDOST):c.942+34del	noncoding	Benign
1	20655165	TTTTTTG	T	G20655171T	DDOST	NM_005216.5(DDOST):c.551+269_551+274del	noncoding	Benign
1	20655167	TTTTG	T	G20655171T	DDOST	NM_005216.5(DDOST):c.551+269_551+272del	noncoding	Benign
1	20655168	TTTG	T	G20655171T	DDOST	NM_005216.5(DDOST):c.551+269_551+271del	noncoding	Benign
1	20655171	G	GTT	A20655196T	DDOST	NM_005216.5(DDOST):c.551+245_551+246dup	noncoding	Benign
1	20655171	GTTTT	G	T20655192A	DDOST	NM_005216.5(DDOST):c.551+265_551+268del	noncoding	Benign
1	21560631	GAGAA	G	A21560635C	ALPL	NM_000478.6(ALPL):c.71_74del:p.Lys24fs	coding	Pathogenic
1	21560691	CT	C	T21560693C	ALPL	NM_000478.6(ALPL):c.129del:p.Gln44fs	coding	Pathogenic/Likely_pathogenic
1	21561095	A	AG	A21561099G	ALPL	NM_001177520.3(ALPL):c.66+353dup	noncoding	Pathogenic/Likely_pathogenic
1	21563195	T	TG	T21563201G	ALPL	NM_000478.6(ALPL):c.388dup:p.Val130fs	coding	Pathogenic
1	21563203	AG	A	G21563204C	ALPL	NM_000478.6(ALPL):c.392del:p.Ser131fs	coding	Pathogenic/Likely_pathogenic
1	21563221	TC	T	C21563224G	ALPL	NM_000478.6(ALPL):c.412del:p.Arg138fs	coding	Pathogenic
1	21563771	TTGA	T	T21563775A	ALPL	NM_000478.6(ALPL):c.473-266_473-264del	noncoding	Benign
1	21564047	CT	C	T21564048G	ALPL	NM_000478.6(ALPL):c.480del:p.Val161fs	coding	Pathogenic
1	21564067	ACGAGAGTGAACCATGCCACCCCCAGCGCC	A	C21564068G	ALPL	NM_000478.6(ALPL):c.500_528del:p.Thr167fs	coding	Pathogenic
1	21564068	CGA	C	A21564072T	ALPL	NM_000478.6(ALPL):c.504_505del:p.Arg168fs	coding	Pathogenic
1	21568111	TG	T	G21568117T	ALPL	NM_000478.6(ALPL):c.662del:p.Gly221fs	coding	Pathogenic/Likely_pathogenic
1	21573459	GAAAAAGAA	G	A21573464G	ALPL	NM_000478.6(ALPL):c.863-201_863-194del	noncoding	Benign
1	21573459	GA	G	A21573464G	ALPL	NM_000478.6(ALPL):c.863-201del	noncoding	Benign
1	21573677	CAGGGGA	C	A21573678C	ALPL	NM_000478.6(ALPL):c.876_881del:p.Gly293_Asp294del	coding	Pathogenic
1	21573726	ACT	A	T21573730C	ALPL	NM_000478.6(ALPL):c.928_929del:p.Ser310fs	coding	Pathogenic/Likely_pathogenic
1	21575846	ACT	A	C21575849G	ALPL	NM_000478.6(ALPL):c.1114_1115del:p.Leu372fs	coding	Pathogenic/Likely_pathogenic
1	21575900	A	AC	G21575907C	ALPL	NM_000478.6(ALPL):c.1171dup:p.Arg391fs	coding	Pathogenic/Likely_pathogenic
1	21576218	T	TGATGGATGGATG	A21576255G	ALPL	NM_000478.6(ALPL):c.1189+295GATG[12]	noncoding	Benign
1	21576250	GGAT	G	A21576255G	ALPL	NM_000478.6(ALPL):c.1190-267_1190-265del	noncoding	Benign
1	21576255	ATGGATGGATGGATGGG	A	G21576287A	ALPL	NM_000478.6(ALPL):c.1190-235_1190-220del	noncoding	Benign
1	21576260	TG	T	G21576262A	ALPL	NM_000478.6(ALPL):c.1190-260del	noncoding	Benign
1	21576263	ATGGATGGG	A	G21576271A	ALPL	NM_000478.6(ALPL):c.1190-251_1190-244del	noncoding	Benign
1	21576264	TG	T	G21576266A	ALPL	NM_000478.6(ALPL):c.1190-256del	noncoding	Benign
1	21576267	ATGGG	A	G21576271A	ALPL	NM_000478.6(ALPL):c.1190-251_1190-248del	noncoding	Benign
1	21576287	GTGGA	G	A21576303G	ALPL	NM_000478.6(ALPL):c.1190-234TGGA[3]	noncoding	Benign
1	21576616	A	AGAGAATGTCTCCAT	G21576632A	ALPL	NM_000478.6(ALPL):c.1286_1299dup:p.Val434fs	coding	Pathogenic
1	21577543	CG	C	G21577547C	ALPL	NM_000478.6(ALPL):c.1474del:p.Ala492fs	coding	Pathogenic
1	21577623	TCTACCCCCTGAGCGTC	T	A21577626G	ALPL	NM_000478.6(ALPL):c.1553_1568del:p.Tyr518fs	coding	Pathogenic/Likely_pathogenic
1	21577769	AC	A	C21577772A	ALPL	NM_000478.6(ALPL):c.*124del	noncoding	Benign/Likely_benign
1	21578333	A	AT	C21578343T	ALPL	NM_000478.6(ALPL):c.*694dup	noncoding	Benign/Likely_benign
1	21816591	TGGAAGGGACCAGAACAAATCACCCAGGAATAACCTTCCTGGGGATCTAAAGATGTCCCACCTGCCCACCACACCCAATTAGGAGTGGGATGGAGGTAGGGCTGCCATGTACAGTTGAACAGGGGTGAAATGCAGTTTCCCAGAACCCCACACACTTACCTTCCCCATCCCCCGCTCAGCCTTTTTTGCAGGTTCCTGGTCATTTCCCTGATGCTGTATGCTTTGTGCCATGAGACCCAGGTCCTATGTCCCCTTGTCCTCCATCCAGGCTCATTCCCTTGTGGGTCTCATTTATATCGTATCACCTGTGGGACTTGTCTTTGAACTTCAGCCACATAACCTCCTCCCTGCTCAGCATCTCTGCGTGGATGTATAGGCGAAATCTCAAACTTAACTTGCCCCATACTGGACTCCTTGTCCACAGCCCTCCCTGCATCCTGCTTCCCTCTCGCTGAGCAGCGACTTCACATTCCAGCTGCCCAGGCCTCACTGAGTCATCTTTTACTCCCCGCTTAACCCATAGCCTATAACCCATAACCAAGCCAGTGACAAGTCCTTTGAAAGCTCTCCAGACTCTGACCCTTCTCACACCTGCTCTGCCATCACCTGGTCTGAGCCACCACCAGCTCTCGTCTGGGTTGTTCTAATAACTTCTGAACTGGTCTCCCTCCTTCTGTCCTTTGCCTCTGACAACACAGGAAGAAGGAAGCCTGGGGGAGCCTTCTTTTTCTTTTTCTTTTTTTCAAATGAACTTACTTATTTATTGTTTTGAGATAGGTTCTCATTCTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCTTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGGACCACACATGCACCACCATGCCCAGCTAATTTTTGTGTTTTCTGTAGAGATGAGGTCTCACTGTATTGCAAGGGCTAGTCTCGAACTCCTGGACTCAAGATCTTCCCACCTTGGCCTCCCAAAGTGCTGGGATTGCATGAACTTCATTTTTTAGGGCAGTTTTAGATTTACAAAAAAATTGAGAAGATAGTACAGAAAATTCTCATATACCCAGCACTCAGTTTGGGTGCTATTACTGACATTTTACATTAGTATGAGACATTTGTTTTAATTAATGAAGTAATATTATTAACTAAAGTCCACAGTTTGTTCAGTTTTCCCTAGTTTTTACCTCATGTCCTTTTTCTGTCCCGGGATCCCACTCAGCATCTCATGTTACATTTATTTATTTATTTATTTTATTACTTTTTTTCAGATAGAGTCTTGCTCTGTCGCCTAGGCTAGACAGACTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGTGTAGCTGGGATTACAGGTGCACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGACAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGCACACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGACAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCTCCGCACCCGGCCTCATGTTACATTCATTAATAGTCATCATGCCTCTTTAGGCTCCCCTTGGCTGTGGCAGTTTCTCAGGATTTCCTTGTTTTTAATGATCTTGACAGTTGTGAGTACTGCTCAGGGATTTTGTAGGATGCCCCACTATTGGGATTTATTTGATACTTTTCTCATGAAAAGACTAGAGTTACAGTTCACAGAGGTGAAATGCCATCTTCATCACATCACATCACACCAAACATGACTTTGGTGTTGGGTGTTTGGTGTTGGACGGTGGTTGACGCTGACCTTGACCGCCTGGCTGATGTCTGCCTCATTTCTCCACCGTTACTTTTGGTCCCATCTTTCCCCACTGTATTCTTGGGAAGTCACTATGTATAGCCCACTTGAGTGGGGAGTTATGCTTCCCCGCCAGAGGTACCTTTTAAAACAGTAAATCAGGTTATGTCACTATCCTGCTCAAAACCCTCATCACATTCAGCAAAGGCAAAGCCTCGCCCGGGCTCAAAGGCCCTGCACGATCTGGCCCTGCCCCTTCTTTCCTGGCCTCGCCTCTTCCTTCCTGGCCCCGCCCCCCGCCCCACCCCTCCCTGGCCCCGCCTCCTCCCTGCCCCACCCCCTCCCTGGCCCCGCCTCCCCTCCACACTCCAGCTTTGTTCTGGCCTTTGCAGTAGCTGTGTCCTCTACCAGAAGACTTTTCTTCTGAGATCTGCATTGCAAGCTCGTTCCTTTGCTTCCTGGTGGGTCTCTTTAAGTTCTTCCCTGACTCCTTTATATAAAAATAGCAACCCTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGTAGTCGGGAGTTCGAGACCAACCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCATAGGTTGCGGTGAGCCGAGATCGCACGGTTGCACTCCAGCTTGAGCAACAAGAGCGAAACTGTCTCAAAAAAAAAGTTATTATTAGTAACTTATTATTATATTCTAATATGTATATTAGATATGCTTCCTGTACAGCCTGCAGAACTGAGACAATTAAACCTCTTTTCTTTATAAATTACCTTTATAAATTTATAAATTTATAAATTACCTTTCTTTATAAATTTATAAGAAAATTATAAATTTTCTTTATAAGCATATACATATGTATATTAGAATAGTCAAAATCACAGAGACAGGAAGTAGAGCCATGGTCACTAGGGGCTGGGGGGGTGGGGACAAGGAGGATATGGAGTTAATGGAATTGACGGAGTTGATGGAGTTTCCGTTTGGGCAGATACAAAGTTCTGGAGATGGATGGCGGTGATGGCTGCACAATGTGAGTGCGTATTAGTCCATTCTCGCATTGCTATAAAAAAACACCTGAGACTGGGTACTTTATAAAGAAAAGAGGTTTAATTATCTCACAGTTCTGCAGGCTATACAGGAAGCATGATGCTGGCATCTGCTCAGCTTCAGGGGATGCCTCAAGAAACTTACAATCTTGGCAGAAGGCGAGGGGAGCAGGCACAGCCAGAGTAGGAGCAAGAGAGAGTGAGTGGGGAGGCACTGCACACTTTTAAACAACCAGATCTTGAGAGAACTCACTATCTTGAGAACAGCACCAAACGGATGGTGCTAAACTATTCATGAGAAATCCACCCCCATGATCTAATCACTTCCTACCAGGCCCCACCTCCAACACTGGGAATTACAATTTGACCTGAGATTTGGGTGGGAACACAGATCCAAACTCTATCAGAATATATTTAATGCCACTGAACTGTACCCCTAACCATGGTTAAATGGTAAACGTTATGTGCTTTGCCACAGTAAGAAAAGCGGCAGCCCGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCAGTGGCGGGCACCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGCGGCAGCCCTGCCCCCACCAACATGCGTAATTTTTCTCACTAGCATCTATCTCCTTTAGACATAAATTCTATTCATGTGTTTTGTTTCTCCCCACACTAAACTCCCAGTGCCATGAAGACATATTTGTCATGTGCTCATGGTTGTATCCCCCAGTTGCTAGAGCCATGCCTGGGGGCATAGGAGATGCTCAAGAAATACTAGTCAAATGAATGGAAGAAGGAACCTCTATGCCTCAGTTTCCTTATCTGTGAAATGGGGATAAACCTCACCCTTCAGAGTTGTTGTAAACTGTGAGTGGCATACATAGGTAACGGGCCCAGCACAGAGTGTGGTGCTTGATGCACAGAAAATGCTCATGGCCGGGCATGGTGGCTCACGCCTGGAATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATTGCTTGAGCTCAGGAGTCGAGACCAGCTTGGGCAACATAGTGAGATCCCGTCTCTACAAAAAATAGAAAAATTAGCCAGGCATGGTGGCACGTGCTGGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGATCACTTGAGCCTGGGAGGCAGAAGTTGCAGTGAGTGGTGATTGCGCCACTGGACTCCAGCCTGGGCGACAGAGTGAGACCCTGCCTCAATGCTCAGTACATGTACACCCTCTTCCTTGGGAAGTAGCTCCACTCATAGACCTTAGGCCCTGGAGCCAGACCATGTGAGTTCAAGTCCTCCTATCACTTCCAGCTAATTGAACTCGGCAAGTGACAACCTCTCTGTAAAATGGAAACACAGAGTGACAAACTCAGGGAAGTCTTGTGAGGATTGAATGAAACACACAAGTGTCCCAGAAAGGGCAGTTCTCAGTGTGCTAGTTCTGTTCTTTCCCATGCAGGTCCCTCTCCGGTGCCCAGCCAGACAGGAAGTACAGATGCCCATACCTCCAGATCCCTGACTCCCTCCCCAGCTCTCGGGTCTGCAGGATCCCTCTGGATTGCAGCTGAGAGGAGTTCCCCAGCAGGCAGGGACCCCACGAGACAAGACGCAGCTTTGGAAGGTTACACCTTGCTCCTACTCTTCCCACCAAAATCATACCTGTCCCTCTCTAGGTGATGGGGACGGGGCAGAGGACCCAGGCCGAGGCCTGAGTGGACTTTCTCTTCCCACAGGCCCCCAGCTCTGAGGGGTGGCGCTGGCCTCCTCGATGCTCCTGGCCTCTGCTGGCCTCCTCCTGGGCCTCCTCTGGTGCTGTTGCTCTCCCAGCTGGCTGGCCTGGCAACCTGGTGCCCGTGGCCTCTGCCTCCACTGCAGCACAGCCTGTACCACGTGCTACCCATGTCCCAGCCAGGTCTCCCCAGGGGGCTGCAGTTGAGTGGCCCAGCCTTATAGGATCAGGGAGGCCATCCCTAGAGGGGCTTCGGGCACATGGGAATGATACTAGGCTCTGGGGTCAGACTCTTTGGGTTCTAACCCCCTGGCTCTCTGTCTGATGTTGGACAGGCCCCCTAACCCTCTGAGACTCAGCTGCCCCTCTAGAAAATAGGACAATTCCTGCCTCACAGGGTTGGGGGCCTGGGGGCCTCGCTGATCCCAAGCCAGCTTGCTTCACCCCCAGATCTCACCTGCCCTGCTCTGCCCCATCCACAGGCTCCACTGAGTGAAGCCCTCATCAAAGACTCAGGAGGCCCCTGGCGGGGATAGCACCGTTTATTAAGAAAAATCAAGACAAAGACCACAGGAGGGTCCCTTCTAGGACACAGAGGCCAGGCGTCCCAACCCCACAGTCTGGGGGCCACTGGCAGGATGGCACTTGAGCTGGATCTTCAGGCTCCTGCAGATGGGGCAGGGTGGTCATATCCCCCTCCTCTCTCTCTCAGTCGTGAGTCCTGCCTTCCCCCACCTAAGGCACTAGCTCTTCCTGAGCACCAGCGGCATCCGTCCGTCCGTTGTCTGTTGGAGGAGTCCCTGGGCCTTCACTTCCAGATGGGTGGGGATGTGGCCTGGGGTGGGCGGGGCCCGGTGGGCGGGGCCCTATCAGTGCTGGGCTCTGCCTGTAGCAGCTCCTGGTAAGAGTTGGGGTGGGCCTTCCCTTACAGCCCCTGAGGGAGGGACCCCAGGCTGTGTGCTGGCAGGAGGGGGTGGGAATGCAGGCCAGGAGGACGTGGTAGGAGGGGGAGTCTGCCAGAGGAGGTGCCAGGGGCTGGGTGGAGGTGGGTGGGGGTGCTGAAAAACGAGCTGGTGGGGATGGGGACCGCCTGCCCAGGGGTGAGCTGCCTTTTGCTCCACAGCCGGCACTAAAGACAATTCCCAATCCTGAGTGGGTGGCAGAGACTCCTGCGATGCCCGTCTCAGGTAGCTGTGGGGCACCAGCCCACAAGCCGAGGTTGGCTCTCCTAGGAGTGAGAACTGCCCAAGGGCTGCAGAAACAGGCCACCCAGCTCTATCTGGGGGCTCCATCGGTGGGTAGGGGGACAGTGGGGGCAGTTCTGGGCCCACCCAGCCACTGTTCCTGACCCCAAGTCCTGGTGACTTTCTGAGGTGCCCACTCCCATCCAACCTGCCTTGCTGGCCAGCCTTGTGGCTTTGCCCAGCTGTGTGTGTGAGGGTGGCATGCCCACCTCCAGTCCAGCCCAGGGCGGTAGCAGCAAAGCGTGGCATCGCCTCGGTTTCTTACAAAAATTCATAATAATATTAATAATAATATACTCGACATTGTCGGGCTGGGGCGTGGCCCGGGAGTCCGTGTGGGGCAGGCAGGTGCCTACGAGGGGCAGGGGCGTGTGTTGGCCCCGGCCTGGGCGCGGTGCTGCAGGTCCAGGGGCTGTGGGGGCGGGGCGCCGGGTCGGGCCGAGTGCAGCACCAGGTTCTTGACACAGCCTGTGATGCCTGAGGAGAATCTGCCCCCGGTCAGCGTGGCCACGTCAGGGGCTCCGCCTGCCGGGAGGTGAGAGGACAGGGCCTGTGGGCTCCAGCAGCCCAGGAGGCGAGGAAGGCTGGGCGAGCTCTAGCCCTAAGGGAGTGCCGTTCCTGCCCCTGCCCTGAGAAGGAGCCCCAGACTTACCGATGTAGACGCTGCCCTTGGCGTTGACTGCCACGTTGGGACCTGGGGACCGGCCGCTGACCAGCTCCTCACCGTCGACTTGGA	T	G21816592T	HSPG2	NM_001013693.3(LDLRAD2):c.643+518_*1484del	noncoding	Pathogenic
1	21830690	CA	C	A21830712G	HSPG2	NM_005529.7(HSPG2):c.11671+291del	noncoding	Benign
1	21830690	C	CA	G21830713A	HSPG2	NM_005529.7(HSPG2):c.11671+270dup	noncoding	Benign
1	21831675	C	CCAGGTCA	C21831684A	HSPG2	NM_005529.7(HSPG2):c.11322_11328dup:p.Ala3777Ter	coding	Pathogenic
1	21832242	GATGC	G	C21832254A	HSPG2	NM_005529.7(HSPG2):c.11207+241GCAT[2]	noncoding	Benign
1	21832250	C	CATGA	C21832254A	HSPG2	NM_005529.7(HSPG2):c.11207+244_11207+245insCATT	noncoding	Benign
1	21835121	TACTC	T	T21835128G	HSPG2	NM_005529.7(HSPG2):c.10454-180_10454-177del	noncoding	Benign
1	21842256	CTG	C	T21842257G	HSPG2	NM_005529.7(HSPG2):c.9033_9034del:p.Pro3011_Ser3012insTer	coding	Pathogenic
1	21842915	CCTGGAGCTG	C	C21842916T	HSPG2	NM_005529.7(HSPG2):c.8759-3_8764del	coding	Pathogenic
1	21843581	TG	T	G21843583A	HSPG2	NM_005529.7(HSPG2):c.8617-144del	noncoding	Benign
1	21855290	GC	G	C21855293A	HSPG2	NM_005529.7(HSPG2):c.5997+13del	noncoding	Benign/Likely_benign
1	21864099	C	CCGAG	A21864105G	HSPG2	NM_005529.7(HSPG2):c.4736_4739dup:p.Gln1581fs	noncoding	Pathogenic
1	21864333	G	GC	T21864338C	HSPG2	NM_005529.7(HSPG2):c.4627-124dup	noncoding	Benign
1	21874625	AC	A	C21874627T	HSPG2	NM_005529.7(HSPG2):c.3518del:p.Gly1173fs	coding	Pathogenic
1	21875838	AC	A	C21875843A	HSPG2	NM_005529.7(HSPG2):c.3183+24del	noncoding	Benign
1	21875925	G	GCT	A21875930C	HSPG2	NM_005529.7(HSPG2):c.3119_3120dup:p.His1041fs	coding	Pathogenic
1	21878212	TC	T	C21878216A	HSPG2	NM_005529.7(HSPG2):c.2658del:p.Thr887fs	coding	Pathogenic
1	21881311	ACCCAGGGTGGCAG	A	G21881318C	HSPG2	NM_005529.7(HSPG2):c.1818+15_1818+27del	noncoding	Benign
1	21887131	G	GGGCGGGGCAGGAGTGGAA	C21887163T	HSPG2	NM_005529.7(HSPG2):c.1078+66_1078+83dup	noncoding	Benign
1	21937495	CT	C	T21937496C	HSPG2	Single_allele	noncoding	Benign
1	22081706	A	AT	G22081714T	CDC42	NM_001791.4(CDC42):c.106-9dup	noncoding	Benign
1	22121152	C	CTG	G22121155T	WNT4	NM_030761.5(WNT4):c.588+57_588+58dup	noncoding	Benign
1	22648040	CTT	C	T22648055C	C1QC	NM_172369.5(C1QC):c.*272_*273del	noncoding	Benign
1	22659292	A	AGATG	C22659329G	C1QB	NM_001378156.1(C1QB):c.-23-147GATG[10]	noncoding	Benign
1	22659292	A	AGATGGATG	C22659329G	C1QB	NM_001378156.1(C1QB):c.-23-147GATG[11]	noncoding	Benign
1	22659292	AGATG	A	G22659325C	C1QB	NM_001378156.1(C1QB):c.-23-147GATG[8]	noncoding	Benign
1	23055302	A	AT	A23055303T	KDM1A	NM_001009999.3(KDM1A):c.883+141_883+142insT	noncoding	Benign
1	23058937	CT	C	T23058947G	KDM1A	NM_001009999.3(KDM1A):c.1073-126del	noncoding	Benign
1	23059333	CTT	C	T23059334G	KDM1A	NM_001009999.3(KDM1A):c.1167+167_1167+168del	noncoding	Benign
1	23310712	A	AC	T23310718C	HNRNPR	NM_005826.5(HNRNPR):c.1643dup:p.Pro549fs	coding	Pathogenic
1	23310755	G	GC	T23310762C	HNRNPR	NM_005826.5(HNRNPR):c.1600dup:p.Ala534fs	coding	Pathogenic
1	23692631	AC	A	C23692635A	RPL11	NM_000975.5(RPL11):c.33del:p.Met12fs	coding	Pathogenic
1	23692691	GAGAC	G	A23692696T	RPL11	NM_000975.5(RPL11):c.94_97del:p.Asp31_Arg32insTer	coding	Pathogenic
1	23692703	C	CG	C23692705G	RPL11	NM_000975.5(RPL11):c.102dup:p.Arg35fs	coding	Pathogenic
1	23692708	GC	G	C23692709A	RPL11	NM_000975.5(RPL11):c.107del:p.Ala36fs	coding	Pathogenic
1	23692749	G	GT	C23692754T	RPL11	NM_000975.5(RPL11):c.151dup:p.Ser51fs	coding	Pathogenic
1	23694690	TTC	T	T23694693A	RPL11	NM_000975.5(RPL11):c.298_299del:p.Ser100fs	coding	Pathogenic
1	23694913	TCTC	T	T23694918C	RPL11	NM_000975.5(RPL11):c.396+127_396+129del	noncoding	Benign
1	23808263	CA	C	A23808264C	HMGCL	NM_000191.3(HMGCL):c.621del:p.Val208fs	coding	Pathogenic
1	23808274	TC	T	C23808279A	HMGCL	NM_000191.3(HMGCL):c.610del:p.Asp204fs	coding	Pathogenic
1	23810751	TG	T	G23810755A	HMGCL	NM_000191.3(HMGCL):c.545del:p.Pro182fs	coding	Pathogenic
1	23814294	TG	T	G23814295A	HMGCL	NM_000191.3(HMGCL):c.392del:p.Ala130_Ser131insTer	coding	Pathogenic
1	23816705	C	CAGGACTGGGT	T23816718G	HMGCL	NM_000191.3(HMGCL):c.308_317dup:p.Thr107fs	coding	Pathogenic
1	23817497	CA	C	A23817498C	HMGCL	NM_000191.3(HMGCL):c.230del:p.Val77fs	coding	Pathogenic
1	23817518	AAC	A	C23817520G	HMGCL	NM_000191.3(HMGCL):c.208_209del:p.Val70fs	coding	Pathogenic
1	23820516	A	AT	G23820521T	HMGCL	NM_000191.3(HMGCL):c.137dup:p.Asn46fs	coding	Pathogenic
1	23854316	TA	T	A23854329C	FUCA1	NM_000147.5(FUCA1):c.969+43del	noncoding	Benign
1	23859647	TTTAACATCCATTAAGTGTCCCAGTCCCTACTGCCCCCATGTTGATATTCCTGTTTATTATTGCTGCTGCTGTGGTTGTCTACTCCAGAGTTTGGCTCCTTGCACTTTCTTTCTTCATAGGAGATAAATAAGAAGTCATATAATCACATACCTTGACAGGGCTGTCATTGTAGAGCCATGAAAGAAAATTTGTGGAGTTCCAGTAAGTATCAGGACATTCCCACTCCCCATCAGACCAGATCAGATCAGGTTTATAGCTGGAAGACATGTGATCAGGACAGAGCTTATTATCTGAACATGTTCACAGTAAAATCTTATGGACCATTTTTTTTTTTAGAGATGGGGTTTCGCTATGTTGCCTAAGCTTGAGTCCAGCAGCTATCAACATGTATGATCACAATGCACTATAGTCTCGAATTCCTGGGCTCAAGCGATCCTCTTGCCTAAGCCTCCTGAGTAGTTGGGACTACAGGTGCACATCACTGCATTTGACTTGTGGACTGATTTTTGCAACAAATATTTTAAAATTAATTTTCCTTCATTTTGAAAGTATGTGGCATAAAAATTATCACAGTGCAGAGGATGTGGAAAACTGAAAACATTTGCTAATAAAACCAGTTTGCTAATAAAACCACCATTTAAAACAAACACAGCAGGCTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAACACACAGCATTTTGGTATATTTCCTCCTGATCTTTTCCTTTCTTCCTTTTTTTTTTTGAGACTGTTTTGCTTTGTCTCCCAGGCTGGAGTGCAGTGCTGTGATCTCGGCTCACTGCAACCTTCACCTGCTGGATTCAAGTGATTCTTGCACTTCAGCCACCCAAGTAGCTGGGATTACAGGTGTGCACCACCATGCCTGACTAATTTTCATATTTTCAGTACAGACAGTGTTTTGCCATCTTGGCCAGGCTGGTCTTGAACTCTTGGCAGCAAGTGATCCACCTGCCTCGGCTTCGCAAAGTGCTGGGATTTCAGGCATGAGCCACTGTGCCTGCCCTAATCTTTTTTCTTTATGCCTTTTAGGAAATGGAGGTGTAATCAGCATACAAACAATTTGGTTTCCTTTCAGCAACTAATTCCAATTAAGAATGGGTGCAGCTGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAATTAACCTGCACATTGTACACATGTATCCTAAAACTTAAAGTATAATAAAAAAAAAAAGAATGGTGTTTCAAGGAAGCAAAGGAAACAAAATGGTGCTTCAGGACTATAAGACTAAGATTTGCTTTGAAGATGTTTTAAGAGTTGGAACTATTCATAAAATGCATTTTTGTGGATAATTACCAAAGTCTGTACTGTAAAGGACTTATGGAATCCACTGGAGCCCCATTTGTACTCTAGCATATTATTACTCTGAGCCCTATAAGGCATGTATGTTGTGTGTATATACATAAATACATATGTATATACCTATATGGTAAGCATTATTATTCTCATTTGAGCAGCAAGACTTTGATGCTCAGTAGGGCAATTTGTTTCAGGTGACAAGGCTTGTAAGTAACAGGAGGTGGAACTCAAATACAAATCTGCCCATTTGTCCACTGTACTCCATAATTAGGCAGGTAAACTCTAGGAAGATCACTAAGTGGCAAGATATAACAGATGGTCTGTGATTTACTGTGTATAAGAAATTGTACTAGGCAATTTAAACTCATTACCTCATTAGTTCTCATGATTCTAGGATATACTATTATCCCATTTCACAGATAGAGAAACCAAGATCTCGAAAGATAAGTAGTTTGTTCAAGGCAACATAGCCAAGTACGATAAAAGAGTGGGGATCTAAGATTCAGTAATTCTAAATCTGTCCATGTCTCTGATGGTCTCTTACAATTGTTACTATTTTCTTAAGAGAAGTCATCTGGATAGAATCTGAATACAAGGTAATTTTTCTTTTCTTGAGACAAAGTTTTCCTCTGTAGCCCAGGCTGAAGTACAGTAGCAGGATCTCGGCTCACTGCAACTGCCTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTATGCACCAGCATGCCTGGCCAATTTTTGTATTTTTTAGTAGAGACGAGATTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGCGCCTGGCTAAAGGTGATTTTCCTTTGCTCTAAAGTGAGGGTCCAGGCAGCTGCCTCTGAAGCTTTAAGGGTCTACCGTCCTCTATGAGTCCCCAGGCTCGAGAAAGGCAAATGGGGATAAAACATTGTGAAGAACTAGTGACAAATCCCTAAGTGAAAGTGATCATTTAAAGAATAATGGTAATAACAACAGCCTTACTTTGTACCAGGCACCGTGACAGATACATTTCACATACTATTCTGAGCCCTACAAAGAAGGCATTATTATCCCCACTTTACAGAGTGAGAATCAAGCTCAGGAGAGTGTTCTGTTTAAGGCATGTAAGTAACAGGAGCCAGAATTCAAACACAAATCTGCCCGATGCCAAACCACCCCCTCTCCAGGGTCCTGACATAGGGAAAACGGCATGTAAGAAGGGAACTAAAATTTTGACTTTCTGCCATCCTGGGTTTTGTGTGATTGTTTCAATGTAGAAGGCAATATGGCCACATGACAGAAGTTCTGAAAGGCAGGAGGAAAGAACATATTTTGTCTTAATACAACCACCACTTTTTATTATTTTGATGTCTTTTAGGTTTTTTTCATACCTATCCCTCCTCCACTTTAATGGTACCCTATAGGAAGCTCTGATTTCATTGATAAAAGTCATAGGGCCAAAATATTTCAGTGTCTTACCTGTTAACAAGGTCGTACAGCTCTGGCATTGTTTTTGCACTGACAAAATGCTGTGTTTTGAAGCCATTTTTCTTATCAAGTAGATAGAGTGGATGGAACCACTCTAAGAGTGAGTGGTATAGTCCATAGCGGATGTTCCTTAAACAGAAAAACAGAACAGCAACTGTCATTAAGCATAGAACAAATAATTTATTTTAAGGAAAATCAGTTCTAGCATTTTTTCATTTCAGTGGCACTCACTCATAAGAGCATATAGAGAGGAATGGGATCCAAAACCATTTCCTTAAATTATTCACTATTCACTTAAGCAAAATGAGGTTTACTGTGTTTTTGATTAAACACATAACTACCTTTTATACATAAATATCTTAACACCAAAATATTATTTAAACCATCTTTTATCTTTTAAGTCAATTATCCCAACAGAGTATAGTCCTGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGTCCATGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCCACAAAAACTGTAAAAATTAGCTGAGTGTGGTGGTGCGAGCCTGTAGTCCCAGCTACTTGGGAGGCTAAAGTGGGAGGATGGCTTGAGCCCAGGAGGTAGAGATTGCAGTGAGCTAAGATTGTGCCACTGGAGTCTAGCAAAGGCGACAGAGTGAGACCCTGTCTCAAAACAAAAACAAAACAAAACAAAACAAAAAACCATATAGCCTTATTTTTAAAAAATGTCTTCCCTGTCAATCATAAAATTTCATATTTAAAGAAACTGGAAAATAGAAAATCAAATATGCAAAGTACTCTTACTCAGAAATAATCATTAGTAACATTTTCCACACAGTTGAAATGAATATAGGTTTATCGTTTTATTTATCTAAGATTTACTAATAGTTCTTTCTCTTTTTTTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCACCACCACACCCAGCTAATTTATTTTTTATTTTTACTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGTCACCACGCCTGGCCAAACTAATAGTTCTTAACGTACACAAAATGAAATGTGGTTGATGACCTATTTTCATATTTAATAAAGCTTGCTTTGGGTTAAGAATGGTGAGTGTTACAAAAACCTTATAATGCAAGAAGCAATTACACAGATAAAAAACAACTGAAGTATTTCATCATATGACCCAGGGACTAAATAAAGATGGTAAAAATCATGACTCCTGAAGTCCATATCTAATCAATATCTCAGAGTTTTACAGCAGGACTTTAAGCAAAGCACAGTGCTGAGAAACAAACTGAGCAGGTGACAGGAGTCAGCAAACTCTTTTTGTCTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCCACCCACGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCAAACGCCACCACGCCCGGCTAATTTTGGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGTTGGTCTTGAACTCCTGACCTCATGATCTGCTTGCCTCTGCCTCCCAAAGTCCTGGGATTACAAGTGTGAGTCAACGCACCCGACCAGTGAACTCTTAAAGATCCAGACAGTGTTTTAGGTTTTGCAGGCCATTTGGTCTCTATCTCAGCTCTCAAATTGTAGCTTGAAAGCAGTCACAGACAGTGCATAAATGAATAGGCATGGCTGTGTTCCAATCAAACTTTATGATTTATACAGACACTCAGCCTACTCCTCAAACAGGACATCAAGTAGCATCGTAGTCTATGTTGGGTATCCTTCATCTAACCAGACATGGCCATGAACTTCTGTAACGGTGTCCCCTTTGGTCACGTGAAAACTGTGAAGCATCAAACACTGCCAATTCAAAGGCCAGAAGCCCTTCCGGCTACTTGCTATATGCAAACCTAGAAAACACACAGGAGTAGAAGGCCAAAAGCCCTTCAGGCTACTTGCTATATGCAAACCTAGAAAACACACGCAAGTAGAGGAGGTACAGAACTCTTGACAGCCAGATCCAAAGAGATAACAGAGTAACCATCCCTGGACACTCACCTCTTCCGGAGAGCTGTTCCCAATTCACCAACCAAATCCCGATGAGGCCCCACGTCTTTGGAGTTCCAGTTCCAAGACACAGGACTCGGCCAGTTTGTGAAGCCTTCGTGATGCTTTGTCGTCAAAACTACATACCTGTGGACAGCAAAACCACATGAGCAAAGGAAGTGGGCAGTGAACTTGCATGAACTTGCCCAGCATGCCTGAGGCTTTTTAAATAGCTGAAAGAA	T	T23859648C	FUCA1	NM_000147.5(FUCA1):c.390-95_768+150del	noncoding	Pathogenic
1	23859894	AG	A	G23859896T	FUCA1	NM_000147.5(FUCA1):c.671del:p.Pro224fs	coding	Pathogenic
1	23863134	CT	C	T23863135G	FUCA1	NM_000147.5(FUCA1):c.661del:p.Ser221fs	coding	Pathogenic
1	23863218	T	TA	G23863220A	FUCA1	NM_000147.5(FUCA1):c.577dup:p.Tyr193fs	coding	Pathogenic
1	23865577	CG	C	G23865579C	FUCA1	NM_000147.5(FUCA1):c.437del:p.Pro146fs	coding	Pathogenic
1	23868204	AC	A	C23868206G	FUCA1	NM_000147.5(FUCA1):c.82del:p.Val28fs	coding	Pathogenic
1	24336215	G	GT	A24336230T	GRHL3	NM_198173.3(GRHL3):c.267-253dup	noncoding	Benign
1	24344974	ACCCTCCACACCTGTGCC	A	C24344992T	GRHL3	NM_198173.3(GRHL3):c.1454+61_1454+77del	noncoding	Benign
1	24344995	TCCACACCTGTGCCTCCG	T	T24345009C	GRHL3	NM_198173.3(GRHL3):c.1454+78_1454+94del	noncoding	Benign
1	25385816	TGA	G	T25385816G	RHCE	NM_020485.8(RHCE):c.966_968delinsC:p.His323fs	coding	Pathogenic
1	25385820	TC	T	C25385824A	RHCE	NM_020485.8(RHCE):c.963del:p.Ile322fs	coding	Pathogenic
1	25543717	GC	G	C25543718G	LDLRAP1	NM_015627.3(LDLRAP1):c.20del:p.Ala7fs	coding	Pathogenic
1	25543718	C	CG	C25543723G	LDLRAP1	NM_015627.3(LDLRAP1):c.24dup:p.Arg9fs	coding	Pathogenic
1	25553942	GAC	G	A25553945G	LDLRAP1	NM_015627.3(LDLRAP1):c.112_113del:p.Thr38fs	coding	Pathogenic/Likely_pathogenic
1	25553945	AC	A	C25553946G	LDLRAP1	NM_015627.3(LDLRAP1):c.113del:p.Thr38fs	coding	Pathogenic
1	25553974	GT	G	T25553976C	LDLRAP1	NM_015627.3(LDLRAP1):c.143del:p.Phe48fs	coding	Pathogenic
1	25557209	AG	A	G25557210A	LDLRAP1	NM_015627.3(LDLRAP1):c.402del:p.Ser135fs	coding	Pathogenic
1	25557245	TC	T	C25557247T	LDLRAP1	NM_015627.3(LDLRAP1):c.439del:p.Leu147fs	coding	Pathogenic
1	25563081	AG	A	G25563084A	LDLRAP1	NM_015627.3(LDLRAP1):c.547del:p.Asp183fs	coding	Pathogenic
1	25563140	CT	C	T25563141C	LDLRAP1	NM_015627.3(LDLRAP1):c.604del:p.Ser202fs	coding	Pathogenic
1	25563141	T	CC	T25563141C	LDLRAP1	NM_015627.3(LDLRAP1):c.604delinsCC:p.Ser202fs	coding	Pathogenic
1	25563680	GCTGGACTT	G	C25563681A	LDLRAP1	NM_015627.3(LDLRAP1):c.637_644del:p.Leu213fs	coding	Pathogenic
1	25565165	T	TC	A25565170C	LDLRAP1	NM_015627.3(LDLRAP1):c.748-4dup	noncoding	Benign
1	25800232	T	TGGGCCGTGCC	G25800239T	SELENON	NM_020451.3(SELENON):c.8_9insTGCCGGGCCG:p.Arg5fs	coding	Pathogenic
1	25800240	GCCCGGCCGGGCCAACGCGGGCCGCCCAGC	G	G25800248C	SELENON	NM_020451.3(SELENON):c.18_46del:p.Gly7fs	coding	Pathogenic
1	25805183	CCT	C	C25805184G	SELENON	NM_020451.3(SELENON):c.446_447del:p.Pro149fs	coding	Pathogenic
1	25808297	CGCCTGGGTGGGCTGT	C	T25808357C	SELENON	NM_020451.3(SELENON):c.538-282GCCTGGGTGGGCTGT[3]	noncoding	Benign
1	25808297	CGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGGCTGT	C	T25808327C	SELENON	NM_020451.3(SELENON):c.538-253_538-209del	noncoding	Benign
1	25808742	T	TC	A25808743C	SELENON	NM_020451.3(SELENON):c.700_701insC:p.Tyr234fs	coding	Pathogenic
1	25809021	CCCAGGTCATCATCCA	C	A25809024G	SELENON	NM_020451.3(SELENON):c.748-2_760del	noncoding	Pathogenic
1	25809050	AT	A	T25809051G	SELENON	NM_020451.3(SELENON):c.773del:p.Met258fs	coding	Pathogenic
1	25811528	T	TA	C25811530A	SELENON	NM_020451.3(SELENON):c.1086dup:p.Pro363fs	coding	Pathogenic
1	25812462	TAC	T	C25812472T	SELENON	NM_020451.3(SELENON):c.1282-224AC[4]	noncoding	Benign
1	25812480	C	CACAT	T25812482C	SELENON	NM_020451.3(SELENON):c.1282-206_1282-205insCATA	noncoding	Benign
1	25812556	TACACACAAACACACACACACAC	T	A25812564C	SELENON	NM_020451.3(SELENON):c.1282-123_1282-102del	noncoding	Benign
1	25812556	TACACACAAACACACAC	T	A25812564C	SELENON	NM_020451.3(SELENON):c.1282-123_1282-108del	noncoding	Benign
1	25812556	TACACACAAAC	T	A25812564C	SELENON	NM_020451.3(SELENON):c.1282-123_1282-114del	noncoding	Benign
1	25812564	A	AACACACAC	T25812607A	SELENON	NM_020451.3(SELENON):c.1282-122AC[25]	noncoding	Benign
1	25812564	A	AACACAC	T25812607A	SELENON	NM_020451.3(SELENON):c.1282-122AC[24]	noncoding	Benign
1	25812564	A	AACAC	T25812607A	SELENON	NM_020451.3(SELENON):c.1282-122AC[23]	noncoding	Benign
1	25812564	A	AAC	T25812607A	SELENON	NM_020451.3(SELENON):c.1282-122AC[22]	noncoding	Benign
1	25812564	AACACACAC	A	A25812599T	SELENON	NM_020451.3(SELENON):c.1282-122AC[17]	noncoding	Benign
1	25812693	T	TA	C25812695A	SELENON	NM_020451.3(SELENON):c.1289dup:p.Tyr430Ter	coding	Pathogenic
1	25812715	TCGAC	T	C25812719G	SELENON	NM_020451.3(SELENON):c.1314_1317del:p.Asp438fs	coding	Pathogenic
1	25812734	GAAC	G	C25812737G	SELENON	NM_020451.3(SELENON):c.1332_1334del:p.Asn444del	coding	Pathogenic/Likely_pathogenic
1	25813938	TC	T	C25813939A	SELENON	NM_020451.3(SELENON):c.1446del:p.Asn483fs	coding	Pathogenic
1	26054237	C	CT	G26054238T	TRIM63	NM_032588.4(TRIM63):c.980-274_980-273insA	noncoding	Benign
1	26057154	CCAGGGGT	C	G26057159C	TRIM63	NM_032588.4(TRIM63):c.979+42_979+48del	noncoding	Benign
1	26282328	A	AGGGACTGGGGCCGGGACCGGGACC	A26282406T	UBXN11	NM_001389556.1(UBXN11):c.1462GGTCCCGGTCCCGGCCCCAGTCCC[4]:p.Pro511_Cys512insGlyProGlyProGlyProSerPro	coding	Pathogenic
1	26282328	A	AGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACC	A26282406T	UBXN11	NM_001389556.1(UBXN11):c.1462GGTCCCGGTCCCGGCCCCAGTCCC[5]:p.Pro511_Cys512insGlyProGlyProGlyProSerProGlyProGlyProGlyProSerPro	coding	Pathogenic
1	26282328	AGGGACTGGGGCCGGGACCGGGACC	A	T26282382A	UBXN11	NM_001389556.1(UBXN11):c.1462GGTCCCGGTCCCGGCCCCAGTCCC[2]:p.488GPGPGPSP[2]	coding	Pathogenic
1	26282334	TGGGGCCG	T	G26282337A	UBXN11	NM_001389556.1(UBXN11):c.1521_1527del:p.Gly508fs	coding	Pathogenic
1	26282344	ACCGGGACCGGGACTGGG	A	C26282345G	UBXN11	NM_001389556.1(UBXN11):c.1501_1517del:p.Pro501fs	coding	Pathogenic
1	26282374	ACC	A	C26282375G	UBXN11	NM_001389556.1(UBXN11):c.1486_1487del:p.Gly496fs	coding	Pathogenic
1	26282386	GCCGGGA	G	C26282400A	UBXN11	NM_001389556.1(UBXN11):c.1458TCCCGG[2]:p.488GP[2]	coding	Pathogenic
1	26443052	C	CTTTTTT	A26443058T	DHDDS	NM_205861.3(DHDDS):c.323+184_323+185insTTTTTT	noncoding	Benign
1	26446365	C	CACTT	G26446370A	DHDDS	NM_205861.3(DHDDS):c.374_377dup:p.Pro128fs	coding	Pathogenic
1	26446687	A	AGTGT	G26446709T	DHDDS	NM_205861.3(DHDDS):c.440+256GT[12]	noncoding	Benign
1	26447626	G	GC	T26447629C	DHDDS	NM_205861.3(DHDDS):c.510dup:p.Trp171fs	coding	Pathogenic
1	26447629	T	TG	T26447636G	DHDDS	NM_205861.3(DHDDS):c.517dup:p.Val173fs	coding	Pathogenic
1	26457565	TAA	T	A26457582G	DHDDS	NM_205861.3(DHDDS):c.543-209_543-208del	noncoding	Benign
1	26457565	TA	T	A26457583G	DHDDS	NM_205861.3(DHDDS):c.543-208del	noncoding	Benign
1	26696495	AGCGGGAGGAG	A	A26696501G	ARID1A	NM_006015.6(ARID1A):c.98_107del:p.Glu33fs	coding	Pathogenic
1	26696551	AT	TA	A26696551T	ARID1A	NM_006015.6(ARID1A):c.148_149delinsTA:p.Met50Ter	coding	Pathogenic
1	26696835	GC	G	C26696840A	ARID1A	NM_006015.6(ARID1A):c.437del:p.Pro146fs	coding	Pathogenic
1	26696977	CTGGAG	C	T26696978C	ARID1A	NM_006015.6(ARID1A):c.575_579del:p.Leu192fs	coding	Pathogenic
1	26697554	T	TG	A26697559G	ARID1A	NM_006015.6(ARID1A):c.1137+18dup	noncoding	Benign
1	26731502	GCCAGCACCCTCGACGCTCTCCCAGCAGGCTGCGTATCCTCAGCCCCAGTCTCAGCAGTC	G	C26731509A	ARID1A	NM_006015.6(ARID1A):c.1708_1766del:p.Pro570fs	coding	Pathogenic
1	26762242	TA	T	A26762243C	ARID1A	NM_006015.6(ARID1A):c.2343del:p.His782fs	coding	Pathogenic
1	26766488	TG	T	G26766492A	ARID1A	NM_006015.6(ARID1A):c.2914del:p.Asp972fs	coding	Pathogenic
1	26772611	TC	T	C26772617A	ARID1A	NM_006015.6(ARID1A):c.3524del:p.Pro1175fs	coding	Pathogenic
1	26774910	GC	G	C26774916A	ARID1A	NM_006015.6(ARID1A):c.4689del:p.Pro1563_Met1564insTer	coding	Pathogenic
1	26779184	GGAA	G	G26779197C	ARID1A	NM_006015.6(ARID1A):c.5287GAA[4]:p.Glu1767del	coding	Benign/Likely_benign
1	26779608	GA	G	A26779613C	ARID1A	NM_006015.6(ARID1A):c.5715del:p.Lys1905fs	coding	Pathogenic
1	26779792	CCCCACTGT	C	C26779793G	ARID1A	NM_006015.6(ARID1A):c.5895_5902del:p.Pro1966fs	coding	Pathogenic
1	26779836	CGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACTTTGA	C	C26779838A	ARID1A	NM_006015.6(ARID1A):c.5940_6000del:p.Val1982fs	coding	Pathogenic
1	26780772	T	TC	G26780782C	ARID1A	NM_006015.6(ARID1A):c.*25dup	noncoding	Benign
1	26913713	GA	G	A26913715G	NR0B2	NM_021969.3(NR0B2):c.227del:p.Phe76fs	coding	Pathogenic
1	26913774	CAGGTGCGATG	C	G26913781A	NR0B2	NM_021969.3(NR0B2):c.157_166del:p.His53fs	coding	Benign
1	27330728	T	TC	A27330733C	TMEM222	NM_032125.3(TMEM222):c.207dup:p.Ile70fs	coding	Pathogenic
1	27334275	ACGT	A	G27334277A	TMEM222	NM_032125.3(TMEM222):c.535_537del:p.Val179del	coding	Pathogenic
1	27547673	GC	G	C27547675T	AHDC1	NM_001371928.1(AHDC1):c.4442del:p.Gly1481fs	coding	Pathogenic
1	27547677	TC	T	C27547678A	AHDC1	NM_001371928.1(AHDC1):c.4438del:p.Glu1480fs	coding	Pathogenic
1	27548359	CG	C	G27548361A	AHDC1	NM_001371928.1(AHDC1):c.3756del:p.Ala1253fs	coding	Pathogenic
1	27548841	A	AAGG	C27548863A	AHDC1	NM_001371928.1(AHDC1):c.3254CCT[8]:p.Ser1091dup	coding	Benign
1	27549006	AAGG	A	A27549010C	AHDC1	NM_001371928.1(AHDC1):c.3104CCT[1]:p.Ser1036del	coding	Benign
1	27549266	CG	C	G27549271C	AHDC1	NM_001371928.1(AHDC1):c.2849del:p.Pro950fs	coding	Pathogenic
1	27549396	GC	G	C27549400A	AHDC1	NM_001371928.1(AHDC1):c.2719del:p.Ala907fs	coding	Pathogenic
1	27549595	GA	G	A27549598G	AHDC1	NM_001371928.1(AHDC1):c.2520del:p.Arg841fs	coding	Pathogenic
1	27549690	C	CCA	T27549694A	AHDC1	NM_001371928.1(AHDC1):c.2424_2425dup:p.Gly809fs	coding	Pathogenic
1	27549700	GC	G	C27549703A	AHDC1	NM_001371928.1(AHDC1):c.2415del:p.Leu806fs	coding	Pathogenic
1	27550003	C	CCA	C27550007A	AHDC1	NM_001371928.1(AHDC1):c.2111_2112dup:p.Val705fs	coding	Pathogenic
1	27550079	AC	A	C27550083G	AHDC1	NM_001371928.1(AHDC1):c.2036del:p.Gly679fs	coding	Pathogenic
1	27550085	GC	G	C27550087A	AHDC1	NM_001371928.1(AHDC1):c.2030del:p.Gly677fs	coding	Pathogenic
1	27550297	CGTTGG	A	C27550297A	AHDC1	NM_001371928.1(AHDC1):c.1814_1819delinsT:p.Ala605fs	coding	Pathogenic
1	27550633	CTT	C	T27550635G	AHDC1	NM_001371928.1(AHDC1):c.1481_1482del:p.Lys494fs	coding	Pathogenic
1	27550669	CG	C	G27550673A	AHDC1	NM_001371928.1(AHDC1):c.1446del:p.Val483fs	coding	Pathogenic
1	27550768	CTG	C	T27550769G	AHDC1	NM_001371928.1(AHDC1):c.1346_1347del:p.Pro449fs	coding	Pathogenic
1	27550933	GAC	G	C27550937G	AHDC1	NM_001371928.1(AHDC1):c.1181_1182del:p.Cys394fs	coding	Pathogenic
1	27550990	G	GC	G27550994C	AHDC1	NM_001371928.1(AHDC1):c.1125dup:p.Pro376fs	coding	Pathogenic
1	27551472	C	CT	A27551474T	AHDC1	NM_001371928.1(AHDC1):c.643dup:p.Ser215fs	coding	Pathogenic
1	27551821	TGGGGCAGCGGGCCTGTGAGACAGGACGGGCTGCCCGTG	T	C27551833T	AHDC1	NM_001371928.1(AHDC1):c.257_294del:p.Pro86fs	coding	Pathogenic
1	29018497	C	CTT	A29018498T	EPB41	NM_001376013.1(EPB41):c.1124+55_1124+56insTT	noncoding	Benign
1	29035579	G	GA	G29035594A	EPB41	NM_001376013.1(EPB41):c.1366-233dup	noncoding	Benign
1	30936879	CCT	C	C30936880G	PUM1	NM_001020658.2(PUM1):c.3243-46_3243-45del	noncoding	Benign
1	30942191	TTATATATA	T	A30942229G	PUM1	NM_001020658.2(PUM1):c.2995-112TA[18]	noncoding	Benign
1	30942191	TTATATATATATA	T	A30942225G	PUM1	NM_001020658.2(PUM1):c.2995-112TA[16]	noncoding	Benign
1	30942192	TA	T	A30942193T	PUM1	NM_001020658.2(PUM1):c.2995-70del	noncoding	Benign
1	30942194	TATATATATATATA	T	A30942195T	PUM1	NM_001020658.2(PUM1):c.2995-84_2995-72del	noncoding	Benign
1	30942194	TATATATATATATATA	T	A30942195T	PUM1	NM_001020658.2(PUM1):c.2995-86_2995-72del	noncoding	Benign
1	30945691	CAAT	C	T30945694A	PUM1	NM_001020658.2(PUM1):c.2857-211_2857-209del	noncoding	Benign
1	31005791	AAGAGAG	A	G31005819T	PUM1	NM_001020658.2(PUM1):c.720+30CT[13]	noncoding	Benign
1	31005791	AAGAGAGAGAG	A	G31005815T	PUM1	NM_001020658.2(PUM1):c.720+30CT[11]	noncoding	Benign
1	31007318	GACACTGATCAA	G	A31007321C	PUM1	NM_001020658.2(PUM1):c.433-227_433-217del	noncoding	Benign
1	31059353	C	CA	C31059356A	PUM1	NM_001020658.2(PUM1):c.213dup:p.Ala72fs	coding	Pathogenic
1	31735567	G	GC	T31735576C	ADGRB2	NM_001364857.2(ADGRB2):c.3353+12dup	noncoding	Benign
1	32275666	AC	A	C32275668G	LCK	NM_005356.5(LCK):c.477del:p.Ala160fs	coding	Pathogenic
1	32786498	TCACATGCATGACTATTCCTAGCC	T	C32786515T	YARS1	NM_003680.4(YARS1):c.821-74_821-52del	noncoding	Benign
1	32786922	GA	G	A32786926C	YARS1	NM_003680.4(YARS1):c.820+17del	noncoding	Benign/Likely_benign
1	32806706	T	TA	G32806708A	YARS1	NM_003680.4(YARS1):c.381-96dup	noncoding	Benign
1	33008227	AGCACCTTTGAGGGGTAGGGATCATTCCTATTCTACTGATGAGGTGAGATAACTTGTCCAAGGTCGCATGGTGAAGTCGCTGTTGAAATCTGTCTTCTGACTCGTTGCTCTGTCTTCATCTGAGGAAAGACTTGTGAGGCTTCTGAGGAGGCTGCTCTCCATCCTGCTGTGTTCTGTCAGTGACACTTTGTGCACACAGGAGATCCTAAGACACATACCCTAGGCCCTCAGAGCCGGCAGTGACTTCTTCAAAATCAGTTCCGGCAGCGCTGAGTGTCCATGGAAAAGAGCTCTTATTCAGAGCAGCCCTTCCTGTGTGCAGAGCTACGCAAGTAATTAAATCACTTCAGCAACAAGATCAAGGGGACGGATAAGTGTTAGAGACTGTGTTTCAGTCCTGACTGCCTCTTATGCATGACCTCAGGAATGCCACTTCACCTCTCTGAGTCTGGTTTCCTCACCTATAAAAGTGAAGGACAGTTCTGACTCCACAGGGTGCTGTGTGAGGGTTACGTGAAGTCGAGGGTTACATGAAGCCTTTGCATAATACCTGGCACAACGTCAGTCTTCCGGGAGTGGTAGGACTAGTCTGCATTCTTGGTTTGCAGATTAGATGAGGAAACCCAGGCCCAAAGAAGCAAACAAACAATAGCTCACCCAGTCTTCTCTGTTTATTCTTCTCAACTACACCATGCTGCTTTGCAGGTTGGTTTGACAAACATTTCCCCACAATTAGATGCATGATGACCAAGGGAGGAAAGAAAATTTTCACAGGGTATTTAAAAAGCTCAGGGAACAAACAGATCAGTGCAAATCAGTAAGGCTAACACCTGAAAATGACTCTGCACAGGTGAGGAAGTGGAGCAGAAGAGGGAGGGGCTGGTTCAGGGAACAGGATTTAATATGTCAGTGAAGACCCTGCCTCTCTCTGTAACAAGATGCCTAAAGAAGAATAGTGGTGCTTCCAGCCCAGCTCCCTCTTGTTTTGGGAACAACAGTCATTTCTCAGAAACCTCACTTGCAAAGGCAGCCCTTCCAAAAACATGAGAGCTTTAGTTTGGAGAAATTATTTAAGCTCACTTTTGCTGGAGAGGAAATGAATTTAAACTAGGACACACAGAGAAGCAACAAAGAGTGTTAAAGAAGCAACTGAAAAGGTAGTCAAAGATCTGGCTTAAGGATTAGAAGCACTGGCTTTCTAGACTATGGACAAGTGTCCATTCAACAGTTATCCAGCCTGGCAGGAAGCAGATATCTTTCTGTGTATATCTGGATCCAACTAACATTTATCCAATGTCTGTTGCATGCCAGGTACTGAGCAAAAACCTTCTTCCTATAAATTTCATTTAATGCCATTAAGGCCAAGAAGGTGGCATAACCAACTTCCTTTTTCAGCTGAGGAAACAGGAGCACAGTGAATAACTAACTGGCTGGGATTTGTCCTAGGTCCCCTGAACTCCAAGCACAGTGCTATCTCCACTAGACCAAGCTGCCTTGTCTCTGGGCTCAAGAGAAGCCTGCATAGGAGCTGAAGGTCAAGAGGTTGCAGGCTTATCTCATATGCACATACTTGGACCTCCCTACCACACAGCTGCCAGCGACAAGAAAGGGCTTCTTTTCCTTCCAGCCAGGTCCAGAATTCAATGTCATTTTTCTAGCTTAGATTATCTAAAAAAAATGCCACAACAGGGGATACAAATTTTAACATATTTTATTGATTTAGGGGCCAAACAAGGCAGCATTTGGTCAGTTAAGAAAGGCACCTCATTGAAAATAATACATCACAGTGCTGTTGAGTGATCCCAGTCACAGGATTTGAGAATGGAAAGGACAATCTTTGGATGACATAGCTTAGGACACTTGCTCATTTATTTAAAAGAGTCCCTTCACACAGTGCAGATAAAAGAAGGCAAGAGCATAGGATTGTGGCATGTGCTGGGTAGCTGTGAGAGGTTACTCATGAAAGTAGGTAGCCTAGTAAATTAGTGGTAAGTCAGGGGAAGGGAATCAGCCTCCCTTTCCATTTCATTCCCTTCCCCCTCCCCTTGATTCCAGTTTGCTTGATTTGTTGAGCCACCATCCCTATGAATACACCTTACATCTCTTTCAAATGTGGAGATGGTTTTTTGATCTTACAGTGTGTGGAACCGGAGTCAGTAATCAAAGCTCCCTGTTCCAAGCTATAGACAGACAGGACAACAATTTGATTTCCTGTACTCTTGGTCTGGAACCCATGGGGTTCTGAGATAAAAGCTGAGGTCTTAGAGCACTGGCTTTAAAAAATATTTTCACCAGTCCAGAGTAAATGAAAACCCGATTCCTTAGAAATAATATTGTGTCTATTTCTACCCCCACCCTCCAAGCATGGTGTTTTTTAAAAAATTAATTTTTCCCTTACACTTTAAAAACTCTCACCTATGTATAAAAGAAACTGCCACACTACAATAACACTGCTGTTGTTCCAAGTATTCCTCTGAGCCCCTCACCAGCCCTCCCTCACCATCCTCACCCTGACCACCCTTCCCCTCTGCCCAGCACCTAAGAGCAGGGATCACGCCGCGGGGTGATGAGCAGTGTTGCAGTCTCGCCTGGCCTTCTGATACTAGGCTGAAATAGAGAGGAAACAAGAGAGAACAAAATGGGTTTTTAAAAACCAAGTACATATCAGAGGAGGCTGGCATGTAAGCCCCAGCAACCAAATGCATTAAACACTGGACATTTCTGTGACAGGTAAAAGCAGAACCTGCTGAGGCTGAGGAACTCTGGAATTAAATGAAGCAAAAACAGAATCCTAACCATACTGAGAAGGGTATATGCATTCCCTATGAATCTTCCAGTTCTTATGGGCAGCCCAAATATTACTTGTACATGTTGTATGCACACGTGAATCTATGTGGACGGATGACAAATATTTGGGCAAGGATCATGCACATAAAATTAGCAAACATTCAAGAACCTCAACTTTGAGGCCAAGTGCTTACAATTGTCCCTAGTTAAAGGGGAGCTGATTCTAAGATTCATGATGCCACTGTCACCCAGAGAAGGATCCCAGACCAGGCACACATAGCTGACAGTTTTTGTTTCACTCCTCTTCCTTGCCCATTCCCAGAAGTCATGTGCTTCCCAGAAACACACAAAGCCAGACTGAGTTTCCATTAAGAGTGGGTGGAGTTGGTTTAGAGCCAGGAAAACAAGGCAGGACAGAGGCAGCAGACACTCACTTGGACCAGGCAAAGAGGGAAGCAAGGTGGCCAGGTACTCATGCCCAGTTGCCATGTGGACAGCAGATAAGACCTCTGGTAGTCTCACAGATGGCAGGAGAGCTCAGGTCAGGAGGCTGGGCACTTTAGAGTCCACTGAATCGAGTCAGCAGCAGATTATGCTGAGGCTGGCGATATTATTTACTGGATCTGCCACTGACTTTCTAATGGTTTTTCCAGAGGCTGCCGTTTTTGTGGTCCTTCATAGCAGTCTGTTACTTCATCTGTTTGCCACAAATCAAACCAGAGACCAAAAGACAGCAGGGACCTTAGAAAATGCTCAATAGTTGGGAAGCTAAGGTTATGAATAAAAGCTGGTAACTGTCACAGGTGGTCTTATTTCTGGGTGATCTTTTCTTGGGGAAGTCCATGGCTATAGCCATCATAAAATTAGGGGTGAAGGGTTGGATCTAGAAAGGAGAGGGTTTGGGCTTAAAAAGAACATATCTGATTTCAGTTTTATGTCCTGGAGAGAGACTGGGTTTGAATAAATACTGATCAAAATGAATCCAAGAATAGATCACACACTGTTTTGTTCACACTTGGAAACACAGGCAAACATTAAAAATAAAAGCAAATAAACCTACCCTGGTCTCTTTTTGGGGAAGTAGATTTGACTGCTCTCAGATGATCAGCCTGGATGTTCAGAAGACAATCTGAATTCAAAAGGACCTTTCACCTGGTTTAATTCTCTGGCAACAATTCAGTTTTCAAACCCAATTCCCAAATAATTGCTATTTTCAGCATCATGATGCAGATCACAAAAATATTCCAATTTGGCCTGGCTCTTTTTATGACGATATCCTCTCCCAGTAATTTCTGTAACCTGCAAAGTAAGTGCCTTTTTCCTTCCACCTAGGGGGAAAAAATTAATGATCCCTGTTCACACACTGACTCACGTGGGTTTTCATCATGGGTTAGAAAACAAAATGGAATTCTCTGTCCATAATGTGCCATCAGGAACTGTGACCCTGCCTGACTTCACATGATCCTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGAAGGCTGCTAGGATGCTTGCGAACACGACATCGGGGGTCTGGGAT	A	C33008231T	AK2	NM_001625.4(AK2):c.636_*4953del:p.Ser213fs	noncoding	Pathogenic
1	33012984	GCA	G	C33013001A	AK2	NM_001625.4(AK2):c.*179TG[8]	coding	Benign
1	33013301	G	GTAC	C33013306A	AK2	NM_001625.4(AK2):c.597_599dup:p.Tyr200Ter	coding	Pathogenic
1	33014612	AAT	A	A33014615G	AK2	NM_001625.4(AK2):c.426-20_426-19del	noncoding	Benign
1	33036744	C	CT	A33036748T	AK2	NM_001625.4(AK2):c.84dup:p.Gly29fs	coding	Pathogenic
1	34761406	TTGTC	T	T34761409C	GJB4	NM_153212.3(GJB4):c.155_158del:p.Val52fs	coding	Benign
1	36099490	GAGAA	G	A36099498G	COL8A2	NM_005202.4(COL8A2):c.194-7_194-4del	noncoding	Benign
1	36473458	AGTTGTGGG	CAACATCCATGGGATCAAGACACCAACATCCATGGGATCAA	A36473458C	CSF3R	NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG:p.Pro215_Leu217delinsTer	coding	Pathogenic
1	36475519	G	GC	G36475525C	CSF3R	NM_000760.4(CSF3R):c.218dup:p.Arg74fs	coding	Pathogenic
1	36475938	G	GT	A36475940T	CSF3R	NM_000760.4(CSF3R):c.65-266dup	noncoding	Benign
1	36479706	AG	A	G36479709C	CSF3R	NM_000760.4(CSF3R):c.-20-191del	noncoding	Benign
1	37538019	GA	G	A37538026G	SNIP1	NM_024700.4(SNIP1):c.927-8del	noncoding	Benign
1	37612499	G	GGT	A37612522G	RSPO1	NM_001242908.2(RSPO1):c.*234AC[12]	noncoding	Benign
1	37612499	G	GGTGT	A37612522G	RSPO1	NM_001242908.2(RSPO1):c.*234AC[13]	noncoding	Benign
1	37612794	T	TTGC	T37612809C	RSPO1	NM_001242908.2(RSPO1):c.741GCA[5]:p.Gln251dup	coding	Benign
1	37616661	T	TC	T37616666C	RSPO1	NM_001242908.2(RSPO1):c.108dup:p.Ser37Glufs*9	coding	Pathogenic
1	37803968	TGGA	T	G37803972T	YRDC	NM_024640.4(YRDC):c.791TCC[1]:p.Leu265del	coding	Pathogenic
1	37804344	TCAAC	T	A37804347C	YRDC	NM_024640.4(YRDC):c.721_724del:p.Val241fs	coding	Pathogenic
1	37862263	CAG	C	A37862264G	INPP5B	NM_005540.3(INPP5B):c.*50_*51del	noncoding	Benign
1	37866385	T	TTC	A37866408T	INPP5B	NM_005540.3(INPP5B):c.2386+52GA[12]	noncoding	Benign
1	37866385	T	TTCTC	A37866408T	INPP5B	NM_005540.3(INPP5B):c.2386+52GA[13]	noncoding	Benign
1	37866385	T	TTCTCTCTC	A37866408T	INPP5B	NM_005540.3(INPP5B):c.2386+52GA[15]	noncoding	Benign
1	37866402	TCTCTCACACA	T	T37866404A	INPP5B	NM_005540.3(INPP5B):c.2386+47_2386+56del	noncoding	Benign
1	37866402	TCTCTCACA	T	T37866404A	INPP5B	NM_005540.3(INPP5B):c.2386+49_2386+56del	noncoding	Benign
1	37866664	A	AC	T37866667C	INPP5B	NM_005540.3(INPP5B):c.2302-123dup	noncoding	Benign
1	37873340	T	TA	T37873341A	INPP5B	NM_005540.3(INPP5B):c.1952-176_1952-175insT	noncoding	Benign
1	37932153	GCAC	G	C37932154A	INPP5B	NM_005540.3(INPP5B):c.392-103_392-101del	noncoding	Benign
1	37932160	AGGGTT	A	G37932161C	INPP5B	NM_005540.3(INPP5B):c.392-112_392-108del	noncoding	Benign
1	39300507	T	TA	C39300519A	MACF1	NM_001394062.1(MACF1):c.2634+156dup	noncoding	Benign
1	39352777	C	CT	A39352791T	MACF1	NM_001394062.1(MACF1):c.11200-217dup	noncoding	Benign
1	39360719	A	ATTAT	A39360723T	MACF1	NM_001394062.1(MACF1):c.12245-71_12245-70insTTTA	noncoding	Benign
1	39388842	ATTTTTC	A	T39388857C	MACF1	NM_001394062.1(MACF1):c.15816+185TTTTTC[2]	noncoding	Benign
1	39434386	C	CT	G39434404T	MACF1	NM_001394062.1(MACF1):c.17566-11dup	noncoding	Benign
1	39434386	CT	C	T39434403G	MACF1	NM_001394062.1(MACF1):c.17566-11del	noncoding	Benign
1	39461791	CAA	C	A39461817T	MACF1	NM_001394062.1(MACF1):c.21524-66_21524-65del	noncoding	Benign
1	39461791	CA	C	A39461818T	MACF1	NM_001394062.1(MACF1):c.21524-65del	noncoding	Benign
1	39480077	T	TAGCCTCTGAAAGACTCCAGTGAGGAGAAGAAATAAAAATG	A39480119G	MACF1	NM_001394062.1(MACF1):c.22170+70_22170+109dup	noncoding	Benign
1	39847030	A	AT	G39847045T	TRIT1	NM_017646.6(TRIT1):c.1006+176dup	noncoding	Benign
1	39847030	AT	A	T39847044G	TRIT1	NM_017646.6(TRIT1):c.1006+189del	noncoding	Benign
1	39854049	CG	C	G39854052C	TRIT1	NM_017646.6(TRIT1):c.334del:p.Arg112fs	coding	Pathogenic/Likely_pathogenic
1	39966632	TTGTC	T	C39966636A	MFSD2A	NM_032793.5(MFSD2A):c.750_753del:p.Cys251fs	coding	Pathogenic
1	39968599	GCAGCCGGAACGTGTCAAGTTTACACTGAACATGCTCGTGACCATGGCTCC	G	G39968602T	MFSD2A	NM_032793.5(MFSD2A):c.1386_1435del:p.Gln462fs	coding	Pathogenic
1	40076863	C	CT	G40076865T	PPT1	NM_000310.4(PPT1):c.776dup:p.Glu260fs	coding	Pathogenic/Likely_pathogenic
1	40078564	GA	G	A40078566T	PPT1	NM_000310.4(PPT1):c.721del:p.Ser241fs	coding	Pathogenic/Likely_pathogenic
1	40078572	AGG	A	G40078574T	PPT1	NM_000310.4(PPT1):c.712_713del:p.Pro238fs	coding	Pathogenic
1	40080403	CTGATTTA	C	G40080405A	PPT1	NM_000310.4(PPT1):c.614_620del:p.Ile205fs	coding	Pathogenic
1	40080494	GA	G	A40080503G	PPT1	NM_000310.4(PPT1):c.537-8del	noncoding	Benign
1	40091363	CA	C	A40091364T	PPT1	NM_000310.4(PPT1):c.398del:p.Met133fs	coding	Pathogenic/Likely_pathogenic
1	40092062	G	GGA	A40092067G	PPT1	NM_000310.4(PPT1):c.343_344dup:p.Gln116fs	coding	Pathogenic
1	40092143	GA	G	A40092144C	PPT1	NM_000310.4(PPT1):c.263del:p.Val88fs	coding	Pathogenic
1	40092582	AACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAAGGAGGCACTCATTCTCAGGTTTATGTAAGTGTTGACCCTGAATTTGAGAGTGAGTGCCTCCTTAAATTTGCACTTCAGGAGCCTCTTCATCTTGTCCTAGCCCCAGACTTGTTTCTTCTATTTCAGGGAACTAGAACTAGGAACAGGAAGCAAACTGGCTACTGAGTAGAAGTGGACTGAGATCATTTCCCATTTTGAACTTACTTATTCCATTTTCAACCTGCGAGAAAGCTTAAGCACCAATTTTAGAACAAGAAAAGGCTACTGCCTAGAGAATTGTCTATTCCTTTTATTTCTCTGAAAACAACGTTCTCCACACTGAGCTGTAATTGTAGGTTACTTAACTGCCTCTGCCTCCCCTGTAACTGACTGTGAGCTCTGGGAAAACACAAAGCTCCTACCCTGTGTCCTCTTTTGACCCCACTGTAGTAGCCCCAGGGCCTGTTGGAGAACCTTGCAAGTGTTTGTATTTGCTGACTCTAATTACTCTGAATATTTTTCTGTAACCCATCCCAATAAAGATCTCACTATCACGACTCTCCCAAAACTGCTTTTGTCAAGATTAATCATCTTTATATTGCTAAATCCAATAATCAGTTGTCAGCCTTTATCTTCCTTGACCCATTAACATTTGATACAGTTGATCATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGACACTCTAGCCAAAGTCCCTGCATTAGTCTTACTAGGCCCAATAACTTCTGTACCTGCCCCTCCCTTCCAAACTAAACTCCTAACTTCTTCCCCTTGCTTACTCATTTCCAGCCACGCTGATCTGAATGCTGTCCCTTGAACACACCAGACATACTTCCACATCAGGGCTTTCCCATTTACTGTTCCTTCTACCAGACAGCCAAATGGCAACTGTCCTCATCTACCTCAGTTTTGTACTCAGATGTCACTTTTTCAATGAATTCTTTCCCAACTTTGCTTTATTAAAAGTGCAAGCCCCCACCTCCAGTTTTTATCCTACACCCTACTATATTTTTCTCTGTTGCACATATCACCATTTGATATGTTATGTTTTACTTGTTAATTTCTTTATAATCTGCTTCTCCTACTGGAGAGTAGGTTCCAAAAGAACAAAGAATTTAGTCTGTTTAGTTCCCTACTGTATCCTCAGCACCTAGTAGGTGCTCAATAACTGTGTTAAATGAATATAGGTTGAGCATCCTAATCTGAAAATGGGAAACCCAAAATCTGAAAGTTTTTCAGCGCAGACATGATGCCACAAGTGGAAAATTCCACACCTGACCTCATGTGATGGGTTGCACAAAATTATTTAAAATATTGCATAAAATTACCTTCCAGCTATGTGTATAAGGTGTATATGAAAAATAAATAAATTTCCTGTTTACACTTGGGTCCCACCCCCCAGATCTCTTGTATATATGCAAATATTAAAAAAAAAAAAATCCGAAATGCTTCCCAGTCCCAAGCATTTCAGATAAGGGTTACTCAATTTGTAAATGAACTGTAGGTGCCTAACAAATCTCTGTTCAATGTGTGAAGGAATAAATAAAAGGGTAGATGCGCCAGTCATATAGCCAGCCGCAGCTCACCTAGCCTGACCAAGTGAGAGATGCTGCATCCTGACGCCACTACTGTAAGGATTAATCAAGGACAGCATGTAAAACTTCAACGCCGTGCGCGGCTCTCTCTTTCCTTCCCCTTCTCTCTTTCCAGTGAAGGGGACGGCTCCTTCCCCTTCTCTCTTTCCAATGCAGATCCTTCAAATCCTAAAATGTCGAGGCAGCCGCGTGCTGTGGGACCACGTCCTCGCCCTCTACACCCGCATTTTGCAGATGCGAACCCAGGCTAGGAAGAGAGAGAATCGCCAAACCCTTTTAAATTTCTCACTCACTCACCCATCCCATGCCAGATCACCAACGGCAGCGGCGCCGGCGGGTCCAGATGCTGCAGC	A	A40092583G	PPT1	NM_000310.4(PPT1):c.69_125-76del	noncoding	Pathogenic
1	40092691	CACTT	C	T40092694A	PPT1	NM_000310.4(PPT1):c.125-188_125-185del	noncoding	Benign
1	40096829	A	ATGC	A40096836T	PPT1	NM_000310.4(PPT1):c.124+280GCA[3]	noncoding	Benign
1	40097197	GAGAGCCACAGCCA	G	C40097208G	PPT1	NM_000310.4(PPT1):c.29_41del:p.Leu10fs	coding	Pathogenic
1	40260571	TA	T	A40260573C	ZMPSTE24	NM_005857.5(ZMPSTE24):c.124-266del	noncoding	Benign
1	40285728	TTCTA	T	A40285736T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.955-189_955-186del	noncoding	Benign
1	40290870	GT	G	T40290879A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1085del:p.Leu362fs	coding	Pathogenic
1	40302126	CTG	C	G40302130C	COL9A2	NM_001852.4(COL9A2):c.1793-239_1793-238del	noncoding	Benign
1	40302811	T	TGGAG	A40302836G	COL9A2	NM_001852.4(COL9A2):c.1604-26CTCC[7]	noncoding	Benign
1	40303762	T	TGGGGCCGGGAGAAGGGAGG	C40303765G	COL9A2	NM_001852.4(COL9A2):c.1401+44_1401+45insCCCCTCCCTTCTCCCGGCC	noncoding	Benign
1	40310278	GC	G	C40310281T	COL9A2	NM_001852.4(COL9A2):c.723del:p.Lys243fs	coding	Pathogenic
1	40312212	C	CT	G40312228T	COL9A2	NM_001852.4(COL9A2):c.364-115dup	noncoding	Benign
1	40315503	CG	C	G40315504A	COL9A2	NM_001852.4(COL9A2):c.150+86del	noncoding	Benign
1	40515335	CTG	C	T40515338A	EXO5	NM_001346953.2(EXO5):c.794_795del:p.Val265fs	coding	Benign
1	40515573	C	CG	C40515574G	EXO5	NM_001346953.2(EXO5):c.1029_1030insG:p.Arg344fs	coding	Benign
1	40832874	G	GC	A40832879C	KCNQ4	NM_004700.4(KCNQ4):c.1514-136dup	noncoding	Benign
1	41001009	CCT	C	C41001010G	CTPS1	NM_001905.4(CTPS1):c.1006-19_1006-18del	noncoding	Benign
1	42738274	AG	A	G42738277T	CLDN19	NM_148960.3(CLDN19):c.427del:p.Leu143fs	coding	Pathogenic
1	42746753	C	CG	C42746761G	P3H1	NM_022356.4(P3H1):c.2154dup:p.Glu719fs	coding	Pathogenic
1	42746806	T	TA	C42746807A	P3H1	NM_022356.4(P3H1):c.2101_2102insT:p.Glu701fs	coding	Pathogenic
1	42747272	CCGCT	C	C42747277G	P3H1	NM_022356.4(P3H1):c.2051_2054del:p.Glu684fs	coding	Pathogenic
1	42747784	AG	A	G42747786T	P3H1	NM_022356.4(P3H1):c.1852del:p.Tyr617_Leu618insTer	coding	Pathogenic
1	42752620	T	TGGAGTTC	A42752628G	P3H1	NM_022356.4(P3H1):c.1383_1389dup:p.Lys464fs	coding	Pathogenic
1	42755763	GCT	G	C42755768G	P3H1	NM_022356.4(P3H1):c.1081-132AG[2]	noncoding	Benign
1	42762312	G	GTT	C42762320T	P3H1	NM_022356.4(P3H1):c.618+9_618+10dup	noncoding	Benign
1	42766594	CG	C	G42766596C	P3H1	NM_022356.4(P3H1):c.377del:p.Pro126fs	coding	Pathogenic
1	42927107	T	TC	T42927114C	SLC2A1	NM_006516.4(SLC2A1):c.1412dup:p.Ala472fs	coding	Pathogenic
1	42927168	TTG	T	T42927169A	SLC2A1	NM_006516.4(SLC2A1):c.1350_1351del:p.Phe450fs	coding	Pathogenic
1	42927231	CCA	C	C42927236G	SLC2A1	NM_006516.4(SLC2A1):c.1287_1288del:p.Cys429fs	coding	Pathogenic
1	42927573	C	CGAAATGGTGA	G42927575A	SLC2A1	NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT	noncoding	Benign
1	42927574	G	GGGTGAGAAAT	T42927581A	SLC2A1	NM_006516.4(SLC2A1):c.1278+30_1278+31insCTCACCATTT	noncoding	Benign
1	42927657	AAG	A	A42927658C	SLC2A1	NM_006516.4(SLC2A1):c.1224_1225del:p.Phe409fs	coding	Pathogenic
1	42927667	C	CG	C42927670G	SLC2A1	NM_006516.4(SLC2A1):c.1215dup:p.Val406fs	coding	Pathogenic
1	42927667	C	CGGCAATGGCA	C42927679G	SLC2A1	NM_006516.4(SLC2A1):c.1206_1215dup:p.Val406fs	coding	Pathogenic
1	42927718	AC	A	C42927720A	SLC2A1	NM_006516.4(SLC2A1):c.1164del:p.Trp388fs	coding	Pathogenic
1	42927735	GGACCCACTTCAAA	G	C42927738A	SLC2A1	NM_006516.4(SLC2A1):c.1135_1147del:p.Phe379fs	coding	Pathogenic
1	42928962	G	GA	G42928963A	SLC2A1	NM_006516.4(SLC2A1):c.1043_1044insT:p.Ile349fs	coding	Pathogenic
1	42928988	C	CT	A42928990T	SLC2A1	NM_006516.4(SLC2A1):c.1017dup:p.Gly340fs	coding	Pathogenic
1	42929254	TG	T	G42929256C	SLC2A1	NM_006516.4(SLC2A1):c.927del:p.Thr310fs	coding	Pathogenic
1	42929303	G	GTAA	G42929309A	SLC2A1	NM_006516.4(SLC2A1):c.876_878dup:p.Tyr293_Ser294insTyr	coding	Pathogenic
1	42929615	TG	T	G42929618A	SLC2A1	NM_006516.4(SLC2A1):c.844del:p.Gln282fs	coding	Pathogenic
1	42929702	C	CGCATCAT	C42929710G	SLC2A1	NM_006516.4(SLC2A1):c.751_757dup:p.Arg253fs	coding	Pathogenic
1	42929781	CT	C	T42929782G	SLC2A1	NM_006516.4(SLC2A1):c.680-2del	coding	Pathogenic
1	42929895	G	GT	G42929898T	SLC2A1	NM_006516.4(SLC2A1):c.656dup:p.Asn219fs	coding	Pathogenic
1	42929916	GC	G	C42929917G	SLC2A1	NM_006516.4(SLC2A1):c.635del:p.Arg212fs	coding	Pathogenic
1	42929917	CG	C	G42929921A	SLC2A1	NM_006516.4(SLC2A1):c.634del:p.Arg212fs	coding	Pathogenic
1	42930642	CCGA	C	C42930649T	SLC2A1	NM_006516.4(SLC2A1):c.491TCG[2]:p.Val166del	coding	Pathogenic
1	42930690	G	GC	T42930692C	SLC2A1	NM_006516.4(SLC2A1):c.451dup:p.Ala151fs	coding	Pathogenic
1	42930710	C	CA	C42930712A	SLC2A1	NM_006516.4(SLC2A1):c.431dup:p.Gly145_Glu146insTer	coding	Pathogenic
1	42930756	A	AT	G42930758T	SLC2A1	NM_006516.4(SLC2A1):c.385dup:p.Ile129fs	coding	Pathogenic
1	42930776	CA	C	A42930777G	SLC2A1	NM_006516.4(SLC2A1):c.365del:p.Leu122fs	coding	Pathogenic
1	42930831	AAGGCCAGCAGGTTCATC	A	G42930833T	SLC2A1	NM_006516.4(SLC2A1):c.294_310del:p.Met98fs	coding	Pathogenic
1	42930847	T	TC	A42930849C	SLC2A1	NM_006516.4(SLC2A1):c.294dup:p.Met99fs	coding	Pathogenic
1	42931044	AC	A	C42931046G	SLC2A1	NM_006516.4(SLC2A1):c.275+1del	noncoding	Pathogenic
1	42931123	GG	TT	G42931123T	SLC2A1	NM_006516.4(SLC2A1):c.197_198delinsAA:p.Ser66Ter	coding	Pathogenic
1	42931180	TGTCTG	T	C42931183T	SLC2A1	NM_006516.4(SLC2A1):c.136_140del:p.Gln46fs	coding	Pathogenic
1	42943224	ACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCT	A	T42943228C	SLC2A1	NM_006516.4(SLC2A1):c.54_114+1del	noncoding	Pathogenic
1	42943291	C	CATGGAGCCAAG	C42943292A	SLC2A1	NM_006516.4(SLC2A1):c.48_49insCTTGGCTCCAT:p.Gly17fs	coding	Pathogenic
1	42943302	A	AT	G42943304T	SLC2A1	NM_006516.4(SLC2A1):c.37dup:p.Met13fs	coding	Pathogenic
1	42943310	AC	A	C42943313G	SLC2A1	NM_006516.4(SLC2A1):c.29del:p.Gly10fs	coding	Pathogenic
1	43338111	TG	T	G43338113C	MPL	NM_005373.3(MPL):c.94del:p.Ala32fs	coding	Pathogenic
1	43338558	TG	T	G43338559C	MPL	NM_005373.3(MPL):c.230del:p.Cys77fs	coding	Pathogenic
1	43338580	TG	T	G43338581C	MPL	NM_005373.3(MPL):c.252del:p.Met84fs	coding	Pathogenic
1	43338636	CT	C	T43338637C	MPL	NM_005373.3(MPL):c.308del:p.Leu103fs	coding	Pathogenic
1	43338638	CT	C	T43338640C	MPL	NM_005373.3(MPL):c.311del:p.Phe104fs	coding	Pathogenic
1	43338638	CTTCT	C	T43338642C	MPL	NM_005373.3(MPL):c.313_316del:p.Phe105fs	coding	Pathogenic
1	43339477	CCTCA	C	C43339482G	MPL	NM_005373.3(MPL):c.603_606del:p.His201fs	coding	Pathogenic
1	43339483	T	TC	A43339485C	MPL	NM_005373.3(MPL):c.605dup:p.Ala203fs	coding	Pathogenic
1	43339533	G	GC	A43339535C	MPL	NM_005373.3(MPL):c.655dup:p.Gln219fs	coding	Pathogenic
1	43340113	GC	G	C43340115T	MPL	NM_005373.3(MPL):c.842del:p.Pro281fs	coding	Pathogenic
1	43340504	CCA	C	C43340505G	MPL	NM_005373.3(MPL):c.972_973del:p.Asp326fs	coding	Pathogenic
1	43346487	TC	T	C43346489A	MPL	NM_005373.3(MPL):c.1025del:p.Pro342fs	coding	Pathogenic
1	43346851	G	GT	A43346852T	MPL	NM_005373.3(MPL):c.1225_1226insT:p.Glu409fs	coding	Pathogenic
1	43346888	CCT	C	C43346889G	MPL	NM_005373.3(MPL):c.1263_1264del:p.Cys422fs	coding	Pathogenic
1	43346929	TG	T	G43346931A	MPL	NM_005373.3(MPL):c.1305del:p.Asp434_Trp435insTer	coding	Pathogenic
1	43348848	GGAGCC	G	A43348850C	MPL	NM_005373.3(MPL):c.1316_1320del:p.Glu439fs	coding	Pathogenic
1	43348879	C	CT	G43348881T	MPL	NM_005373.3(MPL):c.1346dup:p.Glu450fs	coding	Pathogenic
1	43348996	G	GAGAC	C43349001A	MPL	NM_005373.3(MPL):c.1463_1466dup:p.Ala490fs	coding	Pathogenic
1	43349281	CCG	C	G43349283T	MPL	NM_005373.3(MPL):c.1489_1490del:p.Ala497fs	coding	Pathogenic
1	43349325	CTGCT	C	T43349326G	MPL	NM_005373.3(MPL):c.1532_1535del:p.Leu511fs	coding	Pathogenic
1	43352208	TC	T	C43352213A	MPL	NM_005373.3(MPL):c.1566-3del	noncoding	Benign
1	43352222	GA	G	A43352223G	MPL	NM_005373.3(MPL):c.1573del:p.Arg525fs	coding	Pathogenic
1	43352302	CG	C	G43352304T	MPL	NM_005373.3(MPL):c.1653+1del	coding	Pathogenic/Likely_pathogenic
1	43352673	CCTGT	C	C43352678G	MPL	NM_005373.3(MPL):c.1814_1817del:p.Ser605fs	coding	Pathogenic
1	43419724	CT	C	T43419729C	SZT2	NM_001365999.1(SZT2):c.880-5del	noncoding	Benign
1	43422502	A	AC	G43422507C	SZT2	NM_001365999.1(SZT2):c.1796dup:p.Ser601fs	coding	Pathogenic
1	43422821	GC	G	C43422825A	SZT2	NM_001365999.1(SZT2):c.1979del:p.Pro660fs	coding	Pathogenic
1	43425177	T	TC	A43425184C	SZT2	NM_001365999.1(SZT2):c.2621dup:p.His875fs	coding	Pathogenic
1	43427598	C	CA	G43427600A	SZT2	NM_001365999.1(SZT2):c.3668dup:p.Ala1224fs	coding	Pathogenic
1	43428066	AGCTAACCACTGTGCCCT	A	A43428070G	SZT2	NM_001365999.1(SZT2):c.3871_3887del:p.Asn1291fs	coding	Pathogenic
1	43428263	GCA	G	C43428266G	SZT2	NM_001365999.1(SZT2):c.3946_3947del:p.Gln1316fs	coding	Pathogenic
1	43429779	ATC	A	C43429785G	SZT2	NM_001365999.1(SZT2):c.4249_4250del:p.Leu1417fs	coding	Pathogenic
1	43431739	GA	G	A43431740T	SZT2	NM_001365999.1(SZT2):c.5113del:p.Met1705fs	coding	Pathogenic
1	43431813	G	GT	C43431816T	SZT2	NM_001365999.1(SZT2):c.5188dup:p.Ser1730fs	coding	Pathogenic
1	43432416	A	AGG	C43432420G	SZT2	NM_001365999.1(SZT2):c.5421_5422dup:p.Ala1808fs	coding	Pathogenic
1	43432433	AG	A	G43432437A	SZT2	NM_001365999.1(SZT2):c.5440del:p.Glu1814fs	coding	Pathogenic
1	43433012	TCAGA	T	A43433016T	SZT2	NM_001365999.1(SZT2):c.5630_5633del:p.Asp1877fs	coding	Pathogenic
1	43433036	AC	A	C43433039T	SZT2	NM_001365999.1(SZT2):c.5653del:p.Gly1886fs	coding	Pathogenic
1	43437915	G	GA	G43437917A	SZT2	NM_001365999.1(SZT2):c.6508+14dup	noncoding	Benign
1	43437916	AG	A	G43437921T	SZT2	NM_001365999.1(SZT2):c.6508+19del	noncoding	Benign
1	43440516	CT	C	T43440517G	SZT2	NM_001365999.1(SZT2):c.7275del:p.Ala2426fs	coding	Pathogenic
1	43440521	CCT	C	C43440522G	SZT2	NM_001365999.1(SZT2):c.7280_7281del:p.Pro2427fs	coding	Pathogenic
1	43442145	C	CG	C43442153G	SZT2	NM_001365999.1(SZT2):c.7873+22dup	noncoding	Benign
1	43442145	CG	C	G43442152C	SZT2	NM_001365999.1(SZT2):c.7873+22del	noncoding	Benign
1	43442427	A	AC	G43442433C	SZT2	NM_001365999.1(SZT2):c.7975-10dup	noncoding	Benign
1	43442559	C	CAG	A43442563G	SZT2	NM_001365999.1(SZT2):c.8094_8095dup:p.Lys2699fs	coding	Pathogenic
1	43442950	AT	A	T43442952C	SZT2	NM_001365999.1(SZT2):c.8285del:p.Phe2762fs	coding	Pathogenic
1	43443776	G	GC	T43443783C	SZT2	NM_001365999.1(SZT2):c.8811dup:p.Ser2938fs	coding	Pathogenic
1	43447709	GA	G	A43447710G	SZT2	NM_001365999.1(SZT2):c.9440+12del	noncoding	Benign
1	43792353	A	AGT	C43792357T	ST3GAL3	NM_006279.5(ST3GAL3):c.166+206_166+207dup	noncoding	Benign
1	43838310	CG	C	G43838312T	ST3GAL3	NM_006279.5(ST3GAL3):c.302+1del	coding	Pathogenic
1	43899699	T	TGAAATACATCGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T43899713C	ST3GAL3	NM_006279.5(ST3GAL3):c.729_730insCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATCGTC:p.Tyr244delinsLeuTer	coding	Pathogenic
1	43920545	CG	C	G43920551T	ST3GAL3	NM_006279.5(ST3GAL3):c.891+1del	coding	Pathogenic
1	44000736	GGGGAAGGGAGGGGCCGGCCA	G	G44000742C	SLC6A9	NM_001024845.3(SLC6A9):c.1536+11_1536+30del	noncoding	Benign
1	44017368	AAC	A	C44017408G	SLC6A9	NM_001024845.3(SLC6A9):c.31-6526GT[19]	noncoding	Benign
1	44017368	AACAC	A	C44017406G	SLC6A9	NM_001024845.3(SLC6A9):c.31-6526GT[18]	noncoding	Benign
1	44017368	AACACAC	A	C44017404G	SLC6A9	NM_001024845.3(SLC6A9):c.31-6526GT[17]	noncoding	Benign
1	44017368	AACACACAC	A	C44017402G	SLC6A9	NM_001024845.3(SLC6A9):c.31-6526GT[16]	noncoding	Benign
1	44017368	AACACACACAC	A	C44017400G	SLC6A9	NM_001024845.3(SLC6A9):c.31-6526GT[15]	noncoding	Benign
1	44655170	C	CCATG	T44655175C	TMEM53	NM_024587.4(TMEM53):c.219_222dup:p.Val75fs	coding	Pathogenic
1	44660297	TGAA	T	G44660298A	TMEM53	NM_024587.4(TMEM53):c.62-5_62-3del	noncoding	Pathogenic
1	44829316	T	TG	A44829323G	PTCH2	NM_003738.5(PTCH2):c.1216-5dup	noncoding	Benign
1	44830239	G	GTA	G44830240T	PTCH2	NM_003738.5(PTCH2):c.814-210_814-209insTA	noncoding	Benign
1	44832355	CAG	C	G44832359A	PTCH2	NM_003738.5(PTCH2):c.266-16_266-15del	noncoding	Benign
1	44842274	CTT	C	T44842296G	PTCH2	NM_003738.5(PTCH2):c.73-237_73-236del	noncoding	Benign
1	44842274	CTTTTTTTTTTTT	C	T44842286G	PTCH2	NM_003738.5(PTCH2):c.73-247_73-236del	noncoding	Benign
1	44874685	CCA	C	C44874688G	EIF2B3	NM_020365.5(EIF2B3):c.1193_1194del:p.Val398fs	coding	Pathogenic
1	44926755	GA	G	A44926765T	EIF2B3	NM_020365.5(EIF2B3):c.455-17del	noncoding	Benign
1	44926755	G	GA	T44926766A	EIF2B3	NM_020365.5(EIF2B3):c.455-17dup	noncoding	Benign
1	44978621	CTTTTTTTTTTTTTTTT	C	T44978638A	EIF2B3	NM_020365.5(EIF2B3):c.149-177_149-162del	noncoding	Benign
1	45013701	C	CTAG	C45013703A	UROD	NM_000374.5(UROD):c.385_386insAGT:p.Ser129Ter	coding	Pathogenic
1	45327402	TG	T	G45327404C	HPDL	NM_032756.4(HPDL):c.256del:p.Ala86fs	coding	Pathogenic/Likely_pathogenic
1	45327500	T	TA	C45327502A	HPDL	NM_032756.4(HPDL):c.353dup:p.Tyr118Ter	coding	Pathogenic
1	45327744	TG	T	G45327747C	HPDL	NM_032756.4(HPDL):c.599del:p.Gly200fs	coding	Pathogenic
1	45328099	T	TA	G45328103A	HPDL	NM_032756.4(HPDL):c.954dup:p.Gly319fs	coding	Pathogenic
1	45329303	GTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATA	G	T45329304A	MUTYH	NM_001048174.2(MUTYH):c.1393-51_*2del	noncoding	Pathogenic
1	45329309	CT	C	T45329310G	MUTYH	NM_001048174.2(MUTYH):c.1562del:p.Gln521fs	coding	Pathogenic
1	45330524	TC	T	C45330527T	MUTYH	NM_001048174.2(MUTYH):c.1425del:p.Thr476fs	coding	Pathogenic
1	45331473	GT	G	T45331475C	MUTYH	NM_001048174.2(MUTYH):c.1185del:p.Glu395fs	coding	Pathogenic
1	45331491	T	TGCGCTGAA	T45331502G	MUTYH	NM_001048174.2(MUTYH):c.1160_1167dup:p.Lys390fs	coding	Pathogenic
1	45331708	GGCTGTTCCAGAA	AGGGC	G45331708A	MUTYH	NM_001048174.2(MUTYH):c.1043_1055delinsGCCCT:p.Val348fs	coding	Pathogenic
1	45331804	GGC	G	G45331805T	MUTYH	NM_001048174.2(MUTYH):c.957_958del:p.Glu319fs	coding	Pathogenic
1	45331837	CCA	C	C45331838G	MUTYH	NM_001048174.2(MUTYH):c.924_925del:p.Gly309fs	coding	Pathogenic
1	45332234	CTG	C	T45332237G	MUTYH	NM_001048174.2(MUTYH):c.779_780del:p.Thr260fs	coding	Pathogenic
1	45332239	G	GC	T45332244C	MUTYH	NM_001048174.2(MUTYH):c.775dup:p.Ala259fs	coding	Pathogenic
1	45332392	A	AGAGCTGCTGGGAAACAAGG	T45332413A	MUTYH	NM_001048174.2(MUTYH):c.684_702dup:p.Trp235fs	coding	Pathogenic
1	45332409	AG	A	G45332412T	MUTYH	NM_001048174.2(MUTYH):c.685del:p.Val230fs	coding	Pathogenic
1	45332467	TG	T	G45332468C	MUTYH	NM_001048174.2(MUTYH):c.627del:p.Asn210fs	coding	Pathogenic
1	45332625	AG	A	G45332627C	MUTYH	NM_001048174.2(MUTYH):c.554del:p.Pro185fs	coding	Pathogenic
1	45332672	CT	C	T45332673A	MUTYH	NM_001048174.2(MUTYH):c.507del:p.Gly171fs	coding	Pathogenic
1	45332799	A	AG	T45332800G	MUTYH	NM_001048174.2(MUTYH):c.455_456insC:p.Ser153fs	coding	Pathogenic
1	45332928	GC	G	C45332929A	MUTYH	NM_001048174.2(MUTYH):c.409del:p.Ala137fs	coding	Pathogenic
1	45333097	CTG	C	T45333098C	MUTYH	NM_001048174.2(MUTYH):c.376_377del:p.Gln126fs	coding	Pathogenic
1	45333156	CCT	C	C45333159G	MUTYH	NM_001048174.2(MUTYH):c.317_318del:p.Glu106fs	coding	Pathogenic
1	45333164	A	AC	A45333168C	MUTYH	NM_001048174.2(MUTYH):c.310dup:p.Val104fs	coding	Pathogenic
1	45333540	TC	T	C45333541T	MUTYH	NM_001048174.2(MUTYH):c.136del:p.Glu46fs	coding	Pathogenic
1	45333550	GC	G	C45333552T	MUTYH	NM_001048174.2(MUTYH):c.126del:p.Arg42fs	coding	Pathogenic
1	45333554	G	GGCCA	G45333560C	MUTYH	NM_001048174.2(MUTYH):c.119_122dup:p.Arg42fs	coding	Pathogenic
1	45333583	C	CTG	A45333584T	MUTYH	NM_001048174.2(MUTYH):c.116-23_116-22insCA	coding	Pathogenic
1	45334428	AG	A	G45334429C	MUTYH	NM_001048174.2(MUTYH):c.77del:p.Ala26fs	coding	Pathogenic
1	45334439	GC	G	C45334441T	MUTYH	NM_001048174.2(MUTYH):c.66del:p.Arg22fs	coding	Pathogenic
1	45334458	TG	T	G45334459C	MUTYH	NM_001048174.2(MUTYH):c.47del:p.Ala16fs	coding	Pathogenic
1	45334518	C	CA	G45334524A	MUTYH	NM_001048174.2(MUTYH):c.-6-12dup	noncoding	Benign
1	45341956	AT	A	T45341958C	TOE1	NM_025077.4(TOE1):c.343del:p.Ser115fs	coding	Pathogenic
1	45500378	CTA	C	A45500380G	MMACHC	NM_015506.3(MMACHC):c.48_49del:p.Cys17fs	coding	Pathogenic
1	45507360	CATGGTACA	C	G45507364A	MMACHC	NM_015506.3(MMACHC):c.90_97del:p.Trp30_Glu33delinsTer	coding	Pathogenic
1	45507395	CT	C	T45507396A	MMACHC	NM_015506.3(MMACHC):c.122del:p.Leu41fs	coding	Pathogenic
1	45507396	T	TA	C45507398A	MMACHC	NM_015506.3(MMACHC):c.123dup:p.Pro42fs	coding	Pathogenic
1	45507458	GC	G	C45507461T	MMACHC	NM_015506.3(MMACHC):c.187del:p.Leu63fs	coding	Pathogenic
1	45508242	GCTGA	G	G45508245A	MMACHC	NM_015506.3(MMACHC):c.310_313del:p.Asp104fs	coding	Pathogenic/Likely_pathogenic
1	45508318	AC	A	C45508319T	MMACHC	NM_015506.3(MMACHC):c.384del:p.Tyr129fs	coding	Pathogenic/Likely_pathogenic
1	45508798	CAT	C	A45508801C	MMACHC	NM_015506.3(MMACHC):c.435_436del:p.Ser146fs	coding	Pathogenic
1	45508799	A	AT	A45508801T	MMACHC	NM_015506.3(MMACHC):c.434dup:p.Ser146fs	coding	Pathogenic
1	45508841	GCCAT	G	A45508844G	MMACHC	NM_015506.3(MMACHC):c.478_481del:p.Ile160fs	coding	Pathogenic
1	45508870	GAT	G	T45508872G	MMACHC	NM_015506.3(MMACHC):c.506_507del:p.Ile169fs	coding	Pathogenic
1	45508896	GA	G	A45508900C	MMACHC	NM_015506.3(MMACHC):c.534del:p.Lys178fs	coding	Pathogenic
1	45508913	G	GTACC	A45508921C	MMACHC	NM_015506.3(MMACHC):c.551_554dup:p.Arg186fs	coding	Pathogenic
1	45508982	CG	C	G45508985A	MMACHC	NM_015506.3(MMACHC):c.619del:p.Asp207fs	coding	Pathogenic
1	45508989	CTG	C	T45508992A	MMACHC	NM_015506.3(MMACHC):c.626_627del:p.Val209fs	coding	Pathogenic/Likely_pathogenic
1	45509012	TCAG	T	C45509013A	MMACHC	NM_015506.3(MMACHC):c.647_649del:p.Ser216_Glu217delinsTer	coding	Pathogenic
1	45509013	CAG	C	G45509015A	MMACHC	NM_015506.3(MMACHC):c.649_650del:p.Glu217fs	coding	Pathogenic
1	45509415	A	ATTTTTT	G45509416T	MMACHC	NM_015506.3(MMACHC):c.*200_*201insTTTTTT	noncoding	Benign
1	45509416	G	GTTTTT	A45509433T	MMACHC	NM_015506.3(MMACHC):c.*213_*217dup	noncoding	Benign
1	45509416	G	GTTTTTT	A45509433T	MMACHC	NM_015506.3(MMACHC):c.*212_*217dup	noncoding	Benign
1	45509416	G	GTTTTTTTTTTTT	A45509433T	MMACHC	NM_015506.3(MMACHC):c.*206_*217dup	noncoding	Benign
1	45511583	CAT	C	T45511587A	PRDX1	NM_181697.3(PRDX1):c.515-171_515-170del	noncoding	Benign
1	45515841	GAC	G	C45515845G	PRDX1	NM_181697.3(PRDX1):c.107-36_107-35del	noncoding	Benign
1	45519180	ATGT	A	G45519185T	PRDX1	NM_181697.3(PRDX1):c.-11-129_-11-127del	noncoding	Benign
1	46189875	GGTGAA	G	G46189878C	POMGNT1	NM_017739.4(POMGNT1):c.1759_1763del:p.Phe587fs	coding	Pathogenic
1	46189943	AAG	A	A46189946T	POMGNT1	NM_017739.4(POMGNT1):c.1694_1695del:p.Ser565fs	coding	Pathogenic/Likely_pathogenic
1	46189952	C	CA	C46189954A	POMGNT1	NM_017739.4(POMGNT1):c.1686dup:p.Glu563Ter	coding	Pathogenic
1	46190778	AG	A	G46190780C	POMGNT1	NM_017739.4(POMGNT1):c.1545del:p.Tyr516fs	coding	Pathogenic
1	46192206	CAT	C	A46192207G	POMGNT1	NM_017739.4(POMGNT1):c.1429_1430del:p.Met477fs	coding	Pathogenic/Likely_pathogenic
1	46192355	AC	A	C46192357T	POMGNT1	NM_017739.4(POMGNT1):c.1365del:p.Arg455fs	coding	Pathogenic
1	46193334	TG	T	G46193337A	POMGNT1	NM_017739.4(POMGNT1):c.1080del:p.Ile361fs	coding	Pathogenic
1	46193371	C	CA	C46193373A	POMGNT1	NM_017739.4(POMGNT1):c.1043dup:p.Ala349fs	coding	Pathogenic
1	46193544	AC	A	C46193550A	POMGNT1	NM_017739.4(POMGNT1):c.1026+19del	noncoding	Benign
1	46193578	C	CA	T46193581A	POMGNT1	NM_017739.4(POMGNT1):c.1011dup:p.Asp338Ter	coding	Pathogenic/Likely_pathogenic
1	46194274	TG	T	G46194277T	POMGNT1	NM_017739.4(POMGNT1):c.878del:p.Pro293fs	coding	Pathogenic
1	46194902	GC	G	C46194903T	POMGNT1	NM_017739.4(POMGNT1):c.593del:p.Ser198fs	coding	Pathogenic
1	46194919	GCAGAGCCTTGGCT	G	C46194920G	POMGNT1	NM_017739.4(POMGNT1):c.564_576del:p.Thr188_Ala189insTer	coding	Pathogenic
1	46194931	CTG	C	G46194935C	POMGNT1	NM_017739.4(POMGNT1):c.563_564del:p.Thr188fs	coding	Pathogenic
1	46195866	AT	A	T46195867G	POMGNT1	NM_017739.4(POMGNT1):c.478del:p.Met160fs	coding	Pathogenic/Likely_pathogenic
1	46196733	TG	T	G46196735T	POMGNT1	NM_017739.4(POMGNT1):c.351del:p.Thr118fs	coding	Pathogenic
1	46196821	TG	T	G46196826C	POMGNT1	NM_017739.4(POMGNT1):c.263del:p.Pro88fs	coding	Pathogenic
1	46197019	C	CT	C46197020T	POMGNT1	NM_017739.4(POMGNT1):c.185_186insA:p.Arg63fs	coding	Pathogenic/Likely_pathogenic
1	46197746	TC	T	C46197748A	POMGNT1	NM_017739.4(POMGNT1):c.75del:p.Thr24_Trp25insTer	coding	Pathogenic
1	46198518	G	GGGC	T46198542C	POMGNT1	NM_001243766.2(POMGNT1):c.-50-668GCC[8]	noncoding	Benign
1	46198533	C	CGGCGGCGGT	A46198549G	POMGNT1	NM_001243766.2(POMGNT1):c.-50-671_-50-663dup	noncoding	Benign
1	46198536	CGGCGGT	C	T46198542C	POMGNT1	NM_001243766.2(POMGNT1):c.-50-671_-50-666del	noncoding	Benign
1	47225896	GCAGA	G	G47225907A	TAL1	NM_001290403.2(TAL1):c.-1-19TCTG[2]	noncoding	Benign
1	47260558	A	AT	G47260566T	STIL	NM_001048166.1(STIL):c.2830-20dup	noncoding	Benign
1	47289318	TAAAC	T	C47289322G	STIL	NM_001048166.1(STIL):c.1023+113_1023+116del	noncoding	Benign
1	47300473	T	TTC	T47300475C	STIL	NM_001048166.1(STIL):c.454-322_454-321insAG	noncoding	Benign
1	47416235	T	TG	C47416245G	FOXE3	Single_allele	noncoding	Benign
1	47416333	CATGG	C	G47416336C	FOXE3	NM_012186.3(FOXE3):c.21_24del:p.Met7fs	coding	Pathogenic
1	47416462	A	AGAGGCGGCCCCCACGCCCGCGCC	C47416486G	FOXE3	NM_012186.3(FOXE3):c.148_170dup:p.Gly58fs	coding	Pathogenic
1	47416657	GTGGCA	G	T47416658G	FOXE3	NM_012186.3(FOXE3):c.343_347del:p.Trp115fs	coding	Pathogenic
1	47416839	ACGCGGCCGCGGCGC	A	G47416841A	FOXE3	NM_012186.3(FOXE3):c.526_539del:p.Ala176fs	coding	Pathogenic
1	47416855	AG	A	G47416858C	FOXE3	NM_012186.3(FOXE3):c.543del:p.Pro182fs	coding	Pathogenic
1	47416866	T	TC	T47416871C	FOXE3	NM_012186.3(FOXE3):c.555dup:p.Phe186fs	coding	Pathogenic
1	50419101	CCGGCGG	C	G50419125T	DMRTA2	NM_032110.3(DMRTA2):c.1166CCG[7]:p.Ala396_Ala397del	coding	Benign
1	51840391	ATCT	A	T51840403C	NRDC	NM_001101662.2(NRDC):c.453AGA[3]:p.Glu154del	coding	Benign
1	52375501	GC	G	C52375503A	ORC1	NM_004153.4(ORC1):c.2231del:p.Gly744fs	coding	Pathogenic
1	52375813	G	GGACA	A52375818G	ORC1	NM_004153.4(ORC1):c.2134-218_2134-215dup	noncoding	Benign
1	52397811	GA	G	A52397813T	ORC1	NM_004153.4(ORC1):c.275del:p.Phe92fs	coding	Pathogenic
1	52941734	C	CAAAA	T52941750A	SCP2	NM_002979.5(SCP2):c.70-50_70-47dup	noncoding	Benign
1	52941827	A	ACTACCCTGACTTGGCAGAAGAAG	A52941852T	SCP2	NM_002979.5(SCP2):c.103_125dup:p.Gly43fs	coding	Pathogenic
1	52977966	CA	C	A52977980G	SCP2	NM_002979.5(SCP2):c.675-237del	noncoding	Benign
1	52980407	T	TA	T52980409A	SCP2	NM_002979.5(SCP2):c.838dup:p.Met280fs	coding	Pathogenic
1	52980526	T	TTATG	G52980527T	SCP2	NM_002979.5(SCP2):c.956_957insTATG:p.Gly320fs	coding	Pathogenic
1	53027958	CT	C	T53027962C	SCP2	NM_002979.5(SCP2):c.1236-7del	noncoding	Benign
1	53196971	T	TAGCAAG	G53196972A	CPT2	NM_000098.3(CPT2):c.28_29insAGCAAG:p.Trp10Ter	coding	Pathogenic
1	53196979	G	GGGCCCCGC	T53196990C	CPT2	NM_000098.3(CPT2):c.39_46dup:p.Val16fs	coding	Pathogenic
1	53197017	TC	T	C53197018A	CPT2	NM_000098.3(CPT2):c.75del:p.Ser26fs	coding	Pathogenic/Likely_pathogenic
1	53200728	TCC	T	C53200730A	CPT2	NM_000098.3(CPT2):c.164_165del:p.Pro55fs	coding	Pathogenic
1	53200774	CCT	C	C53200779T	CPT2	NM_000098.3(CPT2):c.213_214del:p.Leu72fs	coding	Pathogenic
1	53202323	GA	G	A53202327C	CPT2	NM_000098.3(CPT2):c.238del:p.Thr80fs	coding	Pathogenic
1	53202407	TAA	T	A53202409C	CPT2	NM_000098.3(CPT2):c.320_321del:p.Lys107fs	coding	Pathogenic
1	53210022	GTTTGA	G	T53210024A	CPT2	NM_000098.3(CPT2):c.350_354del:p.Phe117fs	coding	Pathogenic
1	53210194	GA	G	A53210196G	CPT2	NM_000098.3(CPT2):c.522del:p.Val175fs	coding	Pathogenic
1	53210206	TTGAACCCTGCAAAAAGTGACACTA	T	G53210208C	CPT2	NM_000098.3(CPT2):c.534_557del:p.Leu178_Ile186delinsPhe	coding	Pathogenic
1	53210207	TGAACCC	T	G53210208T	CPT2	NM_000098.3(CPT2):c.534_539del:p.Leu178_Pro180delinsPhe	coding	Pathogenic
1	53210342	CA	C	A53210344C	CPT2	NM_000098.3(CPT2):c.670del:p.Thr224fs	coding	Pathogenic/Likely_pathogenic
1	53210421	A	ATT	A53210422T	CPT2	NM_000098.3(CPT2):c.747_748insTT:p.Asn250fs	coding	Pathogenic
1	53210468	G	GC	T53210473C	CPT2	NM_000098.3(CPT2):c.798dup:p.Ser267fs	coding	Pathogenic
1	53210507	C	CA	G53210509A	CPT2	NM_000098.3(CPT2):c.834dup:p.Asp279fs	coding	Pathogenic
1	53210569	T	TGGGCAGAGCTC	A53210581G	CPT2	NM_000098.3(CPT2):c.896_906dup:p.Arg303fs	coding	Pathogenic
1	53210661	CT	C	T53210663C	CPT2	NM_000098.3(CPT2):c.989del:p.Phe330fs	coding	Pathogenic
1	53210759	A	AG	A53210762G	CPT2	NM_000098.3(CPT2):c.1087dup:p.Asp363fs	coding	Pathogenic
1	53210964	TAAGG	T	G53210967A	CPT2	NM_000098.3(CPT2):c.1293_1296del:p.Glu432fs	coding	Pathogenic
1	53211067	GCAGTTGCCCA	G	C53211068G	CPT2	NM_000098.3(CPT2):c.1394_1403del:p.Ala465fs	coding	Pathogenic
1	53211225	CAG	C	A53211226G	CPT2	NM_000098.3(CPT2):c.1552_1553del:p.Arg518fs	coding	Pathogenic
1	53211600	CTTTTTTTT	C	T53211611G	CPT2	NM_000098.3(CPT2):c.1645+292_1645+299del	noncoding	Benign
1	53213384	CG	C	G53213385A	CPT2	NM_000098.3(CPT2):c.1767del:p.Ser590fs	coding	Pathogenic/Likely_pathogenic
1	53213433	GGT	G	G53213434C	CPT2	NM_000098.3(CPT2):c.1816_1817del:p.Val606fs	coding	Pathogenic
1	53213501	AC	A	C53213504A	CPT2	NM_000098.3(CPT2):c.1886del:p.Pro629fs	coding	Pathogenic
1	53213543	AG	A	G53213545C	CPT2	NM_000098.3(CPT2):c.1927del:p.Ala643fs	coding	Pathogenic
1	53923844	G	GT	A53923847T	HSPB11	NM_016126.4(HSPB11):c.318+58dup	noncoding	Benign
1	53924101	TAG	T	A53924104G	HSPB11	NM_016126.4(HSPB11):c.275-156_275-155del	noncoding	Benign
1	54853183	T	TG	T54853191G	DHCR24	NM_014762.4(DHCR24):c.1397+244dup	noncoding	Benign
1	54854262	GA	G	A54854269C	DHCR24	NM_014762.4(DHCR24):c.1021-29del	noncoding	Benign
1	54999324	CG	C	G54999329C	BSND	NM_057176.3(BSND):c.143del:p.Gly48fs	coding	Pathogenic
1	54999342	CATGTGCCAGTGCTACCCCAAGGTAGGTGGTAGTGGGGCTGG	C	A54999343G	BSND	NM_057176.3(BSND):c.157_177+20del	coding	Pathogenic
1	54999518	CCCAT	C	A54999557C	BSND	NM_057176.3(BSND):c.177+156CCAT[9]	noncoding	Benign
1	54999518	CCCATCCAT	C	A54999553C	BSND	NM_057176.3(BSND):c.177+156CCAT[8]	noncoding	Benign
1	54999518	C	CCCAT	C54999561A	BSND	NM_057176.3(BSND):c.177+156CCAT[11]	noncoding	Benign
1	54999526	TCC	T	C54999527A	BSND	NM_057176.3(BSND):c.177+164_177+165del	noncoding	Benign
1	55005063	CT	C	T55005064C	BSND	NM_057176.3(BSND):c.220del:p.Ser74fs	coding	Pathogenic
1	55006105	TCTCTGCTTTGCTTGGGGAAGGGGTTCATAATGGCGTTTTCTGCCCCTGGCACCCAAGGTGAACAACTGCCTCAGTGGGAAGGAAGGGGATAGACCCTGTGGGTATGGAGGCCAGCCAGAGCTCCGTCTCAGGGCCGGTTACTTGGGGTGGGCTCCTGTGATACAGTGGGGGCTCCGGCCACCCTGGGTTCTGAGCTCTTCCCAGTCACTTCCCGGCTGTGTGACCCTAGGCAAGGGGCCTAGTCTCTGAACCTTACTTTCCAGAGGGACTGTAGCACAGTCATAGAGAACATGATATCTGGAGCTCCAGTACTATCACCTAGGGTCCATGTCACCCGGGTACAAGTCTGTTAGAGACTCTGTGCCTCAGTTTCTTCATAGTATCTCTTGTAATTATGGTGAGGGTTAGATGAGCCAACTAACAGAGCCTGGCAGGAAGGAGTTCCCCATTGCTGTAGACTGTCATTGCTGGGTATGTCCTCATCTGTAAACTGGGAATGAGAATTTCTGCCTCAAGGCATTTTTTAGAATAATGTTTAGAATAATGGGTTGATAAGCATTCAGCCTTTACCCACCATCTGGGACCCGGCAAACTCAATGTTAACGGGTCTTCATTTTGCAATTGCATCCTTGTGGTTAACTTTGGAGGCATCAGGTGAAAAAAACACTGGATAGAGAGTCAGACTTGGGGTCAGGCCTGAGCTTTGTCACTTAATTAACTCACCTTGCTGGGCCTCAGCCTCCTCATCCCTGAAACGGGCGCAGTAACATCCCCCAAAGGCTTCTTGTGAGGTGAGGGGAGACCACATACCCAAAGCAAACAGGGCCGGGGAGAACACTGGTGTTTGCTGAGTGACTCTTTGCCGCCTGCCTGTTCTCTCTCCCACTCCAGCCCCAGTCCCCAGCCGCCCTATGTAAGGCTGTGGGAGGAAGCCGCCTATGACCAGAGCCTGCCTGACTTCAGCCACATCCAGATGAAAGTCATGAGCTACAGTGAGGACCACCGCTCCTTGCTGGCCCCTGAGATGGGGCAGCCGAAGCTGGGAACCAGTGATGGAGGAGAAGGTGGCCCTGGCGACGTTCAGGCCTGGATGGAGGCTGCCGTGGTCATCCACAAGGGCTCAGACGAGAGTGAAGGGGAAAGACGCCTAACTCAGAGCTGGCCCGGGTGAGTGCTTAGAGGGCAGGAGTGGGGCTTCTGCCCAGTTCAAGGGTTAAAAAGGAGAGGAGTGGGGGACCGCCGAGGGGTGGGTGGGGACACTGGGGGTAAGGAGAGGGCAGTGGAGGGTGTGGGACACCCTGAGATGTGGCAGATGTGGCAGACAAATGAGTATGGGCTTGGGAGTCAGGCCTCAGTTCAAACCCCAGCTCCTGTGCTGTGTAGCTGTGGTAGGTTCCTTACTTTCCCTAGCCTCAGTTTCCCCACACAGGGATGATCATTCCTACTACCCAGGAATGTTGAGGGTTGGGACAGTGCATTTAAGTACCTGGCATACAGTAGGCCCTTGATGTCTCTGAATGCTTGTCGTGAGTAGCAGGGGGCCAGGAGCCAGAGGACCCGAGTTCAAATTTGGGTCTGCTGCTGACCTGCTCTGTGACCTTGGGCAAGGCCCTCCCCACTCCACTCCCATCCCTGTCTGTTTGTGAACTGAGCTCCTTATTCATCCATGTACTTATTCATTCCATCCACATTACTGAGCACCAACTTCCTGCCCAGCCTTCACTGGAATCTACCCCTGAGGAGCTCTGAGTCCAATGAGGGAGGCAAAGACACCCGGGGACACCTCAGTGTAACTGGGCCTATGAGCAACAGAGGAGAACCCTGAATAATTGGAGAAGTAGATGAGTGACCTGGTTCAGATAATAGCATAGTAATAGCCCTATTTCATGAGCACCTTCTATGTGCCAGGCACTGTGCAAAGTGCCTTGCACATATTATCTGCTGTAAACCTAAGAAAGAACTGCAGGAGTGAATTCTGTTATTGGGAAGAAACTGAGGCCCGGGAAGGTGGATTATCCTACCCTAGGTCTTGCAGCTAGCGGCTGGAATGTGGACCCAGGCATTCTGACTCAGAGATACCCTTGCCCTTGTGGTCTTTGTCCCTGCAGCCCCCTGGCCTGTCCCCAGGGCCCTGCCCCCTTGGCTTCCTTCCAAGATGACCTGGACATGGACTCCAGTGAAGGCAGCAGCCCCAATGCATCTCCACATGACAGGGAGGAAGCTTGTTCCCCACAACAGGAACCTCAGGGCTGCAGGTGCCCGCTGGACCGCTTCCAAGACTTTGCCCTGATTGATGCCCCAACGTTGGAGGATGAGCCCCAAGAGGGGCAGCAGTGGGAAATAGCCCTGCCCAACAACTGGCAGCGGTACCCAAGGACAAAGGTGGAGGAGAAGGAGGCTTCGGACACAGGTGGGGAGGAACCTGAGAAGGAAGAGGAAGACCTGTACTATGGGCTGCCAGATGGAGCCGGGGACCTCCTCCCGGACAAGGAGCTGGGTTTTGAGCCTGACACCCAAGGCTGAGATGTTTGTGCTCCGTAGCTTCTAGTCTGGAACTGCTGCTGACCCCTGTGTGACATCACAGGGCCTCAGTTTCCCTATCTGCAAAATGGGATGATATGGAGGTTCAATGAGATGGTGGCATTTTGAGAATGGTAAAGAAATACACAGGGAGGGGATGATGACTATTAGTGGACTCTTGTTTTTCCAATAGTTAGTGGTCTTTGGCCAACCTTTGAAGGCAAAATATGATTTGTTGAGGTTTGCAGCAGCTGAAGCCCTCAAAAGCATTTTCCACCTTCCCCCAAAGCTGACCTCTGAGAGGAACCTTCCTTGGTGCTCCCTCTGGGCCCCTGATCCTTTGTGAAGGCCAGTCAGGTTTCCCATTCCTATTGTGTCTTATAGTCCACTTGGTAGATGGCGTGATCCGTCTTTACACAGAGGGAGCCTCATCTCCTCCTGGGCCACATTCCTCCTGCAGCTCCCATCGCTCCTTGGCCAGGACCCAAAACCTTCTGTGACTGACCCCTGCTGACCTCATTCTCTCTGCTCCTCCAGTTCCAAGCCTAGCCCCCCTGCCCATCTTGCGGCTCACA	T	G55006110T	BSND	NM_057176.3(BSND):c.273-887_*576del	noncoding	Pathogenic
1	55007012	G	GCC	T55007016C	BSND	NM_057176.3(BSND):c.290_291dup:p.Tyr98fs	coding	Pathogenic
1	55039925	G	GCGCA	G55039930C	PCSK9	NM_174936.4(PCSK9):c.89_92dup:p.Gln31fs	coding	Pathogenic
1	55052318	C	CAT	C55052322T	PCSK9	NM_174936.4(PCSK9):c.566_567dup:p.Gln190fs	coding	Benign/Likely_benign
1	55056224	AGGGGGCG	A	G55056226A	PCSK9	NM_174936.4(PCSK9):c.996+37_996+43del	noncoding	Benign
1	55058564	GTC	ATT	G55058564A	PCSK9	NM_174936.4(PCSK9):c.1420_1422delinsATT:p.Val474Ile	coding	Benign
1	55058666	CGTGTGTGTGT	C	G55058709C	PCSK9	NM_174936.4(PCSK9):c.1503+20GT[21]	noncoding	Benign
1	55061368	G	GC	A55061373C	PCSK9	NM_174936.4(PCSK9):c.1682-3dup	noncoding	Benign/Likely_benign
1	56883467	C	CT	C56883478T	C8A	NM_000562.3(C8A):c.655-4dup	noncoding	Benign
1	56883467	CT	C	T56883477C	C8A	NM_000562.3(C8A):c.655-4del	noncoding	Benign
1	56912476	GC	TT	G56912476T	C8A	NM_000562.3(C8A):c.1454_1455delinsTT:p.Arg485Leu	coding	Benign
1	56945991	A	AT	G56945993T	C8B	NM_000066.4(C8B):c.934dup:p.Met312fs	coding	Pathogenic
1	56952160	CTGTT	C	T56952164G	C8B	NM_000066.4(C8B):c.550_553del:p.Asn184fs	coding	Pathogenic
1	56965895	GA	G	A56965896G	C8B	NM_000066.4(C8B):c.53del:p.Leu18fs	coding	Pathogenic
1	57072064	TAA	T	A57072080C	DAB1	NM_001365792.1(DAB1):c.438+217_438+218del	noncoding	Benign
1	57072064	TA	T	A57072081C	DAB1	NM_001365792.1(DAB1):c.438+218del	noncoding	Benign
1	57072064	T	TA	C57072082A	DAB1	NM_001365792.1(DAB1):c.438+202dup	noncoding	Benign
1	58576374	CAGGTAATAGAT	A	C58576374A	TACSTD2	NM_002353.3(TACSTD2):c.772_783delinsT:p.Leu257_Ile258insTer	coding	Pathogenic
1	58576503	AT	A	T58576504C	TACSTD2	NM_002353.3(TACSTD2):c.653del:p.Asp218fs	coding	Pathogenic
1	58576907	T	TG	C58576913G	TACSTD2	NM_002353.3(TACSTD2):c.249dup:p.Lys84fs	coding	Pathogenic
1	58668691	T	TA	C58668698A	MYSM1	NM_001085487.3(MYSM1):c.1717-10dup	noncoding	Benign
1	58685266	TG	T	G58685269A	MYSM1	NM_001085487.3(MYSM1):c.400-16del	noncoding	Benign
1	58690202	TAAATATA	T	A58690211G	MYSM1	NM_001085487.3(MYSM1):c.320+17_320+23del	noncoding	Benign
1	58782411	CG	C	G58782414T	JUN	NM_002228.4(JUN):c.659del:p.Pro220fs	coding	Pathogenic
1	61077098	G	GAGGGGAGA	G61077112A	NFIA	Single_allele	noncoding	Benign
1	61077852	C	CT	C61077867T	NFIA	NM_001145511.2(NFIA):c.3+238dup	noncoding	Benign
1	61082594	CGCTG	C	G61082607C	NFIA	NM_001134673.4(NFIA):c.-197GCTG[3]	coding	Benign
1	61082672	TTC	T	C61082696T	NFIA	NM_001134673.4(NFIA):c.-118CT[11]	coding	Benign
1	61082847	T	TG	C61082853G	NFIA	NM_001134673.4(NFIA):c.27+34dup	noncoding	Benign
1	61082989	TG	T	G61082999A	NFIA	NM_001134673.4(NFIA):c.27+181del	noncoding	Benign
1	61088361	G	GA	G61088365A	NFIA	NM_001134673.4(NFIA):c.243dup:p.Asp82fs	coding	Pathogenic/Likely_pathogenic
1	61088368	AT	A	T61088369C	NFIA	NM_001134673.4(NFIA):c.248del:p.Ile83fs	coding	Pathogenic
1	61088464	CGAA	C	G61088468T	NFIA	NM_001134673.4(NFIA):c.344GAA[1]:p.Arg116del	coding	Pathogenic
1	61352756	TACACACAC	T	A61352777G	NFIA	NM_001134673.4(NFIA):c.818+190AC[10]	noncoding	Benign
1	61352756	TACAC	T	A61352781G	NFIA	NM_001134673.4(NFIA):c.818+190AC[12]	noncoding	Benign
1	61352756	TAC	T	A61352783G	NFIA	NM_001134673.4(NFIA):c.818+190AC[13]	noncoding	Benign
1	61352756	T	TACACACAC	G61352785A	NFIA	NM_001134673.4(NFIA):c.818+190AC[18]	noncoding	Benign
1	61352756	T	TACAC	G61352785A	NFIA	NM_001134673.4(NFIA):c.818+190AC[16]	noncoding	Benign
1	61352756	T	TAC	G61352785A	NFIA	NM_001134673.4(NFIA):c.818+190AC[15]	noncoding	Benign
1	61358842	TC	T	C61358844A	NFIA	NM_001134673.4(NFIA):c.819-303del	noncoding	Benign
1	61406543	GCC	G	C61406556A	NFIA	NM_001134673.4(NFIA):c.1255-6_1255-5del	noncoding	Benign/Likely_benign
1	61406543	GC	G	C61406557A	NFIA	NM_001134673.4(NFIA):c.1255-5del	noncoding	Benign
1	61406552	C	CG	C61406553G	NFIA	NM_001134673.4(NFIA):c.1255-10_1255-9insG	noncoding	Benign
1	61426629	T	TG	C61426631G	NFIA	NM_001134673.4(NFIA):c.1512+74dup	noncoding	Benign
1	61455513	A	AT	A61455527T	NFIA	NM_001134673.4(NFIA):c.*206dup	noncoding	Benign
1	62238632	C	CT	G62238648T	KANK4	NM_181712.5(KANK4):c.2884-266dup	noncoding	Benign
1	62238632	C	CTT	G62238648T	KANK4	NM_181712.5(KANK4):c.2884-266_2884-265dup	noncoding	Benign
1	62247681	A	AGAG	C62247685G	KANK4	NM_181712.5(KANK4):c.2683-12_2683-10dup	noncoding	Benign/Likely_benign
1	62475357	TA	T	A62475361G	DOCK7	NM_001367561.1(DOCK7):c.5962-7del	noncoding	Benign
1	62475497	GA	G	A62475509T	DOCK7	NM_001367561.1(DOCK7):c.5962-147del	noncoding	Benign
1	62475833	T	TGTACA	T62475844G	DOCK7	NM_001367561.1(DOCK7):c.5830_5834dup:p.Pro1946fs	coding	Pathogenic
1	62487685	G	GTAAGT	A62487690T	DOCK7	NM_001367561.1(DOCK7):c.5494-274_5494-273insCTTAA	noncoding	Benign
1	62488701	G	GA	G62488712A	DOCK7	NM_001367561.1(DOCK7):c.5493+223dup	noncoding	Benign
1	62489044	T	TAA	C62489047A	DOCK7	NM_001367561.1(DOCK7):c.5381_5382dup:p.Asn1795fs	coding	Pathogenic
1	62494664	T	TG	C62494673G	DOCK7	NM_001367561.1(DOCK7):c.5025-205dup	noncoding	Benign
1	62504710	TAC	T	C62504712G	DOCK7	NM_001367561.1(DOCK7):c.4682_4683del:p.His1560_Cys1561insTer	coding	Pathogenic
1	62504756	C	CT	C62504758T	DOCK7	NM_001367561.1(DOCK7):c.4637dup:p.Thr1547fs	coding	Pathogenic
1	62505695	GCTCTCTGTGTAGCAAAACAGTGTTGTAGATAAACTGCACTTTGGTTACAGGCCATGCTGTGTAGTAGCACTTTTAGCACTCCACCAAGAATGCTCTCTTTGGATTCCGTTACAGAAACGGTCTGCAATTTAAAAATAAACAAATAAAATAGAGATGTACTTGCAATTTAGTTATGGATGTTACAGGCCTCCCTATGTATAAATAAAGGCCTCCCTGTATGTATAAGTAAAGTTTTAAAAGATAAAAAAATGATAACATAAGATCTAGGATGGCTTCAAGAAGGAGCTAAGCAGGATTTGAATAAGAAAAGGGGGAAAAAGAATAAATATAATTTAAATGAGAAAAAACAGGAGTAAGATACAATGGCAAGAAATCATAAGGTGTGTTTTAGGAAAATTAGTAAGTAAATTTGAATTGACTTGAGGTTCATGTAGAAAATAACTAGAGATAAGGCTGAAAAATTGAGTGGTGCCTAGAGCAAAAAATGTTGGTGGTACACAAATAACCATTCTTTTCTTCTTTAATAATTGAAATCCTGAATTTTAGCTGAAGACTTTGAATCCGGCTACAGAGAGAGGTGAACAAAAGAGAAGTTACATCTTCTGAGTCATGCCCTTAAAAAAAGAAATGTACTCTGTCCCTGCTGTTTCTTTTCACTGAATGAAATACAGACATGATGGCCGCAGCTCAAGCAACCATCTTGGGATCAGTTATCTTGGACTTATTAAATTTTTTCTATTTTTAAAACTTTAGTCAGGATAATGACTGATAAAATCTTTTTTTTTTTGTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCTTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGCTTCAAGCAATTCTTGTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTTTTTATTTTTAGTAGAGTCAGGGTTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCCACACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAACCAACGTGGAGAAACCCTGTCTCTACTAAAAATACACAATCAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAATAAATAAATAAATAAATAAATAAATAAATAAAATAGAGTAGAGTCAGGGTTTTGCCATGTTGACTAGGCTGGTCTTGAACTCCTGACTTGAAGTGATCCACCCACCTCAGCTTCCCAAATTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCATAAAATACTTTTAAAGGAAAATTCTCACAACAATGTACAGAATGGATGGTGGGAAGAATACAGAGTGAGTTATGAAGTAGGTGGCCATTGTAATAGCGTGGAAATATGAACCTGGCAGAGTAGTGGTAGTAGAAAAGGAATGGAAGGAATAGGTGAGAGATATATTTACTAAAACATCTGAAAGATCTTGCTAACTGATTTGAATCCTGGCTCTTCTACATACTAGCTGCGTCATTATGGGCAGTTATTTAACATCTTTGTGCCTAAGTGTTCTCATCTACAAGATGAGGATACTGACAGTTTCAATGTCATGAGTTTCTTAGAAGGATCAAATGAGTTAATATTTGTAAAGTGCTTAGGACAATGTTTAACACAGAAAAAACTAAATAAATGTCAGCTATCACATTGTTACTACAGAATACTGCCCAGAGGGCAACTGTTAGGACCCAACACAATGATTATAGATAAAAAGCCTGAAACATTGCTGTGGTATACAGAGGATACTGCATAAACCCAGTTTATCTATATGTAGCTATAGCTATACATGCATGTTGAATCTCACCTGATGGCAGAACTTCCACCTATAAATACTCAGAGGATATTTGGAAATGCAAGACTAGGCCATCAAGGGGAAAGACAAGGAGATAAAGATTTCATAATCATCCTCCATGAAGAAACAGTTGAAGCTATGGGAATTTATAATTACAGAGAATCTCAGAATGCTTGGAACGAAACTTTTAGGAACTACCAATATTTAATAAAATGTAATTTTATGGCTCACAGTAAACACTTTTCCCTCCAACCTCAATTTACCAAATCCGTATTTTAAATTTCTCTTCTTTGCATTCTTACCTGAACAACAATCTCTAATGTATCTAAAATGATTAGGTTTGCTTCTGTAGCCAGGTTTCCATCAATCAGTGCTTCGTGTTCAATCTCTGCTCTTGATCTAATACAAAATATTGTAAGAAATTATATTTATCTTTTTGAAAACTACAATTCTGAAAAGACTTAAGGATGCATAGAAATAAAAAATTTCAAACCATTTTCAATATTTGCCTGATAAAAAATTACAAGAGAATAAGAAAAAAGGCAGTAGTTTACACATTTATGCAGCTTTTTTGTTAACCACAACAATACACACTTTCTCACCCCATTACAGAAGTGTAATGCCACTAAAAGCATAAATGTTTATGTTTTAGCTTTCAAACATGCAGCAGACAGTTTTATTCTAAGTGACACTGACACTAGGTGGTGCTATGTGGGCTTGTATTTAGGACTGCTTCATGGAAAACAACATTCAAATATTTAGTATTCATCTTACTATTTCAAATATTTCCAATGTCTGTATTCAGGATAAATGTACTTAATTTGTCTAAGGTTTCATCTAATTTTCCCCCAATTTTTTTTATATAAATATGCTCAGATGATAATTTAACTCTTCAGTGAGACTAGATGGAATTACTCATTGGAAACACAACAAATTTGGGGAAAAAAGGATGTGAGGTGACGAATATGCTAGTTAGCTTGCCTGTGGTAATCATTTCACAATTGTACACATATATTAAAAGATCATGTTATATTCTGTAAATATATACAATTTTGTCAATTATAACTCAATAAAGCTAGAAAAATAATAAAGAAAAAAGAACAAAACAGTTTGATGCAATAAAGTGGTTTACTTAAATACTAATATTTGTAAAAGTATCATTTAATGCAAATAAAAATGTAAGAATAATTACACATGATTTATGAATATAGTTGAGATTTTTGTTTTAGCAATAATAGATATACAGATACTATATATTACACCAAAGTAGACAAAATAACACATAAAGTACAAGGCCATATTAAACACTAACTTTTCTAAGTTTTTAGATCTGTAAGTCTGTGAGTCTTTATTATTACCACTAAAGAGAATACTTCATTAATTTACAGTTTACAAATTCAATTTAAGAATAAAAGCACTTTGAAAGGCTGAGGTAGGGGATCCTTGAGACCAGGAGTTAAGAGACCAGCCTGCACAACATGGCAAAACCCTGTCTCTACAAAAATTATTTGGGCGTGGTGGTGCACAGCTATAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGCTCACCTAAGCCCAGGAGGTCAAGGCTGCAGTGAGTCATGATTGTGCCACTGCACTTTGGCCTGAGTGACAGAGTGAGATCTTGTCTCAAAAAAAAAAAAAAAAAAGAATACAATTATCAAAATTAAACTGGAAAATAAAATATTTAATGTTCAAACTTAAAATTTCCAGTGACATTTTATAAAGAAACATAAGATGGTTTAAACAAAAAGAATCAGGAGAACACCAAAAAAGTCTCCCTCAAAACACAGCAAGATAAGCCAAGAGAACACATTCTACAAATGCAGAAATAAAGCACTACTATACTGATAGTACAGTACCTGGCTACTCTGTGATTTCTAAAAAATAACACATGTAGAAAAACCATCAGAGAAATAGATTTGGACAGACGGAGAAAAAGAAAGGAAAGCACACATTCCAAGGTTAAGAATTTTAATATATTTATATTACATTCAATATCTGATTATTTCAAGCTCTCATACATATGGTACTGAAACTTGTTTCTCTGCTGGCTCTCACTTGTTTCCTCTGTTTTATGATTTTACTGTCTGTGAGAAAATATTGTGAAAGTTTATTTGTGAGAATCTTCTGAGGCTTGGGCTGATGATGGTTCTCAGATAGGGTAATCAATCATCTTGGTTTGCCTTAGGACAGGACTAAAGGGCTCCCTGGGATGTGGGACAATCAGTGCTATAACTGGGAGAGTGCTAGGCAAACCTGAAATGAGTTGGTCACTCCATTCTCAAAGTTTTATGGGCCAGTGAAGCTACTTGCGGGCTAACTTATAATTAGAAATTCTCAAGAAAAAAATTTTAGCCCCTTGACTCAGTGCCAAATCTCAAGCCAGAAAAGTTTACCTGCAGCCACTTGGGCAGTAAGAAGATTCATGTAAGTGTATTGTAGGTGTTTATGGCAGTAGGATCAGTCAATGTATCAAGTCTGCCTTTATGCTAGAAACAGAAGACCTGTATTGTTTTGTCTTTCTTGAATTATATTATAAGCTCCATAACGACAAATGTCAGGTTTCTGATTCTTTGTAATATTTGAAATATTAGTTCAATGTGACACCTAAAATATGTTCAAAAAATAGTTGCTGAATGCATTTTCCAAGAGGATGTTTTAAAGAAAATGGAGTTTAAAATATAATATTTTGCCTTACTATACCACGAGAAGTTCTTCCTCCAAATCTTTTTAAATCTAAAATTTTTAAATTAAATATTTTGTTCTCTAAGACTTAATATATTTATTAAGTGTAAATACTAAATGTAAATATAAAGTAAAAGTTATCATTTTCCTCTTACATTTTAAAATTCAACACACCCATCAGTAACATAAAATAGAAAGCTGTATTACTTGTCAAGCTTCTCTGTGTTTTGACGCCAGTGAGTCATATCTTTCCTCCACCTCAAATTTTCTTGACTTCCAAAGGCACTTCCAGATGGGCTTCTCTCTGTCAAATAAATTTCAAAACCAATTTTCAAATGTTATTTCAGTTGGACCACATATATGTATACTTGCAATCATGTAAGAAATATACAACAATAATTTGTACAAGCCATTTTATCCTCAGTACAAGTTGAAAAACCTGACAATGGTGCTTTTTATTAAAAATTTTCACAATAATTTCAGAAGAAATGTACTTGCTATATGCAGTATCTTTTCTTTAAAACAATACCCACTTAAATAAGCAAATGTTCTAACATTGGTTTGCTTAAAATCTTAACCATGGCTTATAAGGCCTTACATGATATGACTTTATTTCCTACCATTCTTCCTCTTGCTTACCGCTTTCTGTTATCCTTGCGAATCTATCAGTATATACTCTGACTACGCTTCTGACTTACAACCTGTGCAATGGTTGTTGTTCCTTTTTCCTAATTGTTCTTCTCACAAATTTTCCTTTATCGCCTCCTTAGAAAGGCCTCCCACTCTCCAATACCTCCTTTTCCTTTTCTTTTGCTTTGTTCCTTTCCATAACACTTAGGACCACAAGTATATAAGCTCCTTAAGAACAGAAATGATATGTACTTTGTCCAAGCATGTTATGTCTAGGCTGATAAAGTGGTTTCTAGGTTTGAAGGCAGACTGCATGTATGGGTTCCTTTAAGGGGTGGCAGCAATAGAAATGATTCATACAAATCCATTAGGAGTGGAGACAGCATTGAGAATGTGGAGAATACACAAATATACATTTAAACAATGGACTCAGTCATAATTTCAAACTTTCAACTATAAAACTGCTTGTTTTTGGAAAAGGTAAGACTTTAAATTGGTTAAGAGGATGAAGAATAATGAAAGTAAATGTTCAGAGTTCAAATATAAATTTTTAAAAATACTGAAAAACAAATACAAAAGAATACAACTATACATATGTCAATTAAAGAAATACAAAAAATACTGAGAAATAAGAATCATTTCCTGTACAATAAAGGACATGGCTCTATTTCTTCTAATTTCTTTCCCTTTTCTTTCCTTTCTTTCCTTATCTCTTTCTCTTTTTTAAATTCTGAAATCCATGTCTTTAGGAAATTTATGGAAAAAAACAAAAAGATATGCCTATATTAAGATAGTTAGCAAAATTAACTATAATATTCTATCATTTACATTTTTTCCCACGAAACTCTCAATAGTTAATAATGTCTTAGAACTGAAAGTTAAGAAAAAGAAAACAATGTCTATTAGTAGACCTAATAAGCCAATGTCTATTATTGACCTAGCTTAAATGTAGAAATGTAAATAAGAATTACAAGACAAGTAAGAATTACAAGAATTATAAGACAAGAAGACTTCAATTGTTATATTCAAACAAACCCAAAAGTACACTGTAAATTGTATATAACTAAAGTGAAAAAATGGTGCTCTATTAATTTTTTTAAAGGCAAAGACTGTGCCTTTTCATTATTACAAAACATAGTATATAAATGATACTTAGATTATTATTATGCTAATGAACTGTCAGAAAACAATTAAAAATCCATTCACACTTACATTCATATTTTAAGTCAACAAATAAATATTGTGCTGTTGGCATGTATCATCTACACAGATGACCAACCCATGGCCCTGGCCTTAAGAAACTCTTAGCAACAGTATTGTCTGTATGTCACTTTAGAATTTACAAAACGTTTCTGCATGCATGGTTACTATAAAGATGATAAGATCAGTTAGTTACACTATCTTCTAAATTCTGAAAACAATCACAAATTTATAAGGAAAAGGAAGATGGGGAGATTAAGTGACTTGGCCAAGGTTATTTGGCTAATGGGTAGCAGACCTGGGATTAGAAAACCAGTCTCAAATGCTACTAAACTGTTTTGTCTCACTGATATTTGAGTTTGATGGGCAATATTTTTGCCTTATATACAGGGCATATTAATTCATTTTGCAAATAAAGAGTAAAAACAGGCCAGACGTGGTGGCTCACAGAACTGTGAGAGGCCAAGGTGGGAGGATCACTTGAGCTCAGGAATTTCAAGACTAGCCTGGGCAATACAGTGAGACCATGTTTAAAAAAAAAAAAAAATTACTTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACCAGGGTAGGTGTGTATTGGGGGATGAAGGTGTAAAAATTGCTTGGGCGAGGGAGGTCAATGCTGCAGTAAGCCACAATCACACGACTGCACTCCAGCTTGGGTGACAGAGCGAGAATCTGTCTCAACTAAAAAAAAAAAGTAAAAATAGATGTTATATGGAATGATCCCTAATGTAAACTGCGGACTCTGGGTGATGATGTGTTAATGTAGGTTCACCAGTTACAACAAATGCACTACTCTGATGGGGGATGTTAATAATGGGGGAGGCTACGCATACTAAGGGGTATATGGGAAATCTCTGTACCTTTGCTCACTTTTGCTGTGAACTTAAAACTGCTCTACAAAAATAAAGTCTATTTAAAAAGGGAGGATGGATGCTATTAATCACATAAGGACTTTCTAGAGAAAGTTTTCTAGAGAGGACTTTCTAGAGAACGTTTTCTAGAGAAGACTTTCTAGAGAAAACGGGGGGGGGGGGGCGGTATGCTGACTCACCTAAATCAGAATTCTAACTTTTATTACTGCAGAGAAATGATTATTCAAGTTAATTCACAGTTACACTTAAAACACTTTTTAAAAAGCATAGGATTGACATTGAAGACTAGCAACAATGATCATTACAATATACAACTCAAGGAAATTGAAGAAATTCTCACCAGGAGGAGAAGCTATTGTGTACGTACCGAGCTGTCCTCGGCTTCGCCGTACCATTTCTTGCCTGGCACCTATGCTCCCAAGAATAGCTTCTTCAAGCTTTGCTCTCATGTCTTTTGATTTCTTAAAGGTCAAGCTATTCATTCGTTCAAACACTTTTTTCCCCTAAAATGTAAACATTAGAAGAGAAGAGGTATTGAGGAAATTTTCTTCTATTTTTTCCACATTATGTTTCTCCTTTCTTGTTCTTTGCAATGGTACAATGACCACTTACTTTATACTCAAAGCAAGACACACAGAGATAAAGCAGATCTAATAGCCGGTTTAGCTGCAAGACTGAGAGATCTGTAAACCACTTCTGTAGAACTGTTTCATCTGCATTTTTGAGAACCCAAAGTAGACAGATCAAAAGGCTTCGACTTGATTCTGCTGAAAAGGTAGTGTGTTGCCTGCCACTCTGAAAATAAAGAGCAGTAGAATGAGACAGATTGATCAAAGACCATTTCTTGTTTTTTGGCTATCAACTGTTTTCTTCTAAAAACAATAAAACAAAAGTTGCTTAAAAATAATATAATTAAAAACCATTTGATTCAGACAACACTTGTACAAAAGGATCATATATAACCTTAAGGTTAAGAGCCTGAAGTTTAATGAACCTTTCCTGATAACAGAAGTTTGTTTTAATCTACTGCATGACTGCCAGCAGGGGATAAATAAATGTTAATAAAAAACATAAAGATAAAAACTAAAAGATTCTACCATTAAAAACTAAAAGATATATATCACAGAATATCAGATATAATGAAAATAAAGGAAAAAAGCAACTGACTCACAGTAAATAAGAGTGGGCTAAGAGTAGAAAGTAATGACAAAATCATGTATGTCAGACTTAGAAGACTATTGTTTTTAATCAAGCACCACTGATACAAAAAGGAAAAGTCTTAGGCTATATAGAAGTAAAAAGCTATTTCTACTTATAGCATATAAGGTTGAAATGCTATTTTCAATCATCAATCTATATTAGTATATAGTATGTAAAACAGAAATGAAAAAATAAAAACACATTTACAGTACCACTTATTGGACATACACTCTGTTTCAGTCATCATACTAAACATTTTACATACATTATTTGATTTAGTC	G	T62505699C	DOCK7	NM_001367561.1(DOCK7):c.3937-686_4597del	coding	Pathogenic
1	62513253	CGG	C	G62513265C	DOCK7	NM_001367561.1(DOCK7):c.4282+189_4282+190del	noncoding	Benign
1	62513597	CT	C	T62513603C	DOCK7	NM_001367561.1(DOCK7):c.4128del:p.Val1377fs	coding	Pathogenic
1	62527874	T	TA	G62527891A	DOCK7	NM_001367561.1(DOCK7):c.3936+261dup	noncoding	Benign
1	62529220	TAACACTTTTAAACATTGAGCTTTGCCTTTAATATTTGCCTTA	T	A62529222T	DOCK7	NM_001367561.1(DOCK7):c.3781+15_3781+56del	noncoding	Benign
1	62537585	CA	C	A62537604G	DOCK7	NM_001367561.1(DOCK7):c.3471+305del	noncoding	Benign
1	62539804	ATG	A	G62539806C	DOCK7	NM_001367561.1(DOCK7):c.3132_3133del:p.Ile1045fs	coding	Pathogenic
1	62539895	G	GA	G62539903A	DOCK7	NM_001367561.1(DOCK7):c.3046-4dup	noncoding	Benign
1	62544929	C	CT	C62544931T	DOCK7	NM_001367561.1(DOCK7):c.2859+17dup	noncoding	Benign
1	62559445	A	AT	A62559458T	DOCK7	NM_001367561.1(DOCK7):c.2200-237dup	noncoding	Benign
1	62561740	AG	A	G62561741T	DOCK7	NM_001367561.1(DOCK7):c.2113-38del	noncoding	Benign
1	62577266	G	GGA	C62577271G	DOCK7	NM_001367561.1(DOCK7):c.2106_2107dup:p.Pro703fs	coding	Pathogenic
1	62578717	C	CAA	C62578740A	DOCK7	NM_001367561.1(DOCK7):c.2010+89_2010+90dup	noncoding	Benign
1	62578717	C	CA	C62578740A	DOCK7	NM_001367561.1(DOCK7):c.2010+89dup	noncoding	Benign
1	62586581	GA	G	A62586582T	DOCK7	NM_001367561.1(DOCK7):c.1725del:p.Arg576fs	coding	Pathogenic
1	62586673	CTA	C	A62586675G	DOCK7	NM_001367561.1(DOCK7):c.1683-51_1683-50del	noncoding	Benign
1	62598676	AACCT	A	C62598679T	ANGPTL3	NM_014495.4(ANGPTL3):c.496-17_496-14del	noncoding	Benign/Likely_benign
1	62604866	AGTTAATGTG	A	T62604869C	ANGPTL3	NM_014495.4(ANGPTL3):c.*52_*60del	coding	Benign
1	62619812	T	TA	G62619823A	DOCK7	NM_001367561.1(DOCK7):c.1519+78dup	noncoding	Benign
1	62625414	TA	T	A62625424T	DOCK7	NM_001367561.1(DOCK7):c.1283-14del	noncoding	Benign/Likely_benign
1	62625414	T	TA	T62625425A	DOCK7	NM_001367561.1(DOCK7):c.1283-14dup	noncoding	Benign
1	62648281	G	GT	A62648283T	DOCK7	NM_001367561.1(DOCK7):c.556dup:p.Thr186fs	coding	Pathogenic
1	62648487	CCTTT	C	T62648494G	DOCK7	NM_001367561.1(DOCK7):c.443_446del:p.Glu148fs	coding	Pathogenic
1	63371042	C	CAAGA	T63371043A	ALG6	NM_013339.4(ALG6):c.65_66insAAGA:p.Leu23fs	coding	Pathogenic/Likely_pathogenic
1	63402337	CAT	C	A63402340G	ALG6	NM_013339.4(ALG6):c.254_255del:p.Tyr85fs	coding	Pathogenic
1	63402344	G	GT	A63402346T	ALG6	NM_013339.4(ALG6):c.257+2dup	coding	Pathogenic/Likely_pathogenic
1	63406393	GA	G	A63406398G	ALG6	NM_013339.4(ALG6):c.428del:p.Lys143fs	coding	Pathogenic
1	63407116	G	GA	G63407117A	ALG6	NM_013339.4(ALG6):c.484_485insA:p.Gly162fs	coding	Pathogenic
1	63411154	CTG	C	T63411157A	ALG6	NM_013339.4(ALG6):c.506_507del:p.Val169fs	coding	Pathogenic
1	63411160	GT	G	T63411161C	ALG6	NM_013339.4(ALG6):c.510del:p.Gly172fs	coding	Pathogenic
1	63411223	TG	T	G63411225C	ALG6	NM_013339.4(ALG6):c.574del:p.Ala192fs	coding	Pathogenic
1	63411278	A	AT	G63411286T	ALG6	NM_013339.4(ALG6):c.634dup:p.Cys212fs	coding	Pathogenic/Likely_pathogenic
1	63411278	AT	A	T63411285G	ALG6	NM_013339.4(ALG6):c.634del:p.Cys212fs	coding	Pathogenic
1	63411919	GT	G	T63411923A	ALG6	NM_013339.4(ALG6):c.681-3del	noncoding	Benign
1	63411926	GT	G	T63411929G	ALG6	NM_013339.4(ALG6):c.684del:p.Phe228fs	coding	Pathogenic
1	63411966	TC	T	C63411968T	ALG6	NM_013339.4(ALG6):c.723del:p.Phe242fs	coding	Pathogenic
1	63412031	ACT	A	C63412034T	ALG6	NM_013339.4(ALG6):c.789_790del:p.Phe264fs	coding	Pathogenic
1	63412034	CT	C	T63412036C	ALG6	NM_013339.4(ALG6):c.791del:p.Phe264fs	coding	Pathogenic
1	63414076	AT	A	T63414079G	ALG6	NM_013339.4(ALG6):c.835del:p.Trp279fs	coding	Pathogenic
1	63415678	GTA	G	A63415690C	ALG6	NM_013339.4(ALG6):c.903-194TA[5]	noncoding	Benign
1	63428969	CTG	C	G63428971T	ALG6	NM_013339.4(ALG6):c.1171_1172del:p.Val391fs	coding	Pathogenic
1	63428988	A	AT	A63428995T	ALG6	NM_013339.4(ALG6):c.1194dup:p.Ile399fs	coding	Pathogenic/Likely_pathogenic
1	63428988	AT	A	T63428994A	ALG6	NM_013339.4(ALG6):c.1194del:p.Phe398fs	coding	Pathogenic
1	63429048	GC	G	C63429049A	ALG6	NM_013339.4(ALG6):c.1249del:p.Gln417fs	coding	Pathogenic/Likely_pathogenic
1	63436807	C	CT	C63436815T	ALG6	NM_013339.4(ALG6):c.1327-9dup	noncoding	Benign
1	63593512	GACCCAGGCGT	G	C63593516A	PGM1	NM_002633.3(PGM1):c.28_37del:p.Gln10fs	coding	Pathogenic
1	63594280	CT	C	T63594281G	PGM1	NM_002633.3(PGM1):c.246+547del	noncoding	Benign
1	63629953	GA	G	A63629955G	PGM1	NM_002633.3(PGM1):c.423del:p.Ala142fs	coding	Pathogenic
1	63636286	CTG	C	T63636289G	PGM1	NM_002633.3(PGM1):c.929_930del:p.Val310fs	coding	Pathogenic
1	63638495	GAATCCACATATAAT	G	A63638497G	PGM1	NM_002633.3(PGM1):c.1029-188_1029-175del	noncoding	Benign
1	63648505	TC	T	C63648511T	PGM1	NM_002633.3(PGM1):c.1145-6del	noncoding	Benign
1	63654339	GC	G	C63654341T	PGM1	NM_002633.3(PGM1):c.1474del:p.Leu492fs	coding	Pathogenic
1	63659449	CAT	C	A63659450G	PGM1	NM_002633.3(PGM1):c.1600-136_1600-135del	noncoding	Benign
1	64050507	A	AT	C64050522T	ROR1	NM_005012.4(ROR1):c.452-165dup	noncoding	Benign
1	64179024	GA	G	A64179046C	ROR1	NM_005012.4(ROR1):c.*191del	noncoding	Benign
1	65364614	GT	G	T65364629G	DNAJC6	NM_001256864.2(DNAJC6):c.194-6del	noncoding	Benign
1	65364615	T	TG	T65364616G	DNAJC6	NM_001256864.2(DNAJC6):c.194-20_194-19insG	noncoding	Benign/Likely_benign
1	65384201	G	GGC	G65384205C	DNAJC6	NM_001256864.2(DNAJC6):c.677_678dup:p.Ala227fs	coding	Pathogenic
1	65406093	T	TG	C65406099G	DNAJC6	NM_001256864.2(DNAJC6):c.2456dup:p.Gln820fs	coding	Pathogenic
1	65406338	CTT	C	T65406341A	DNAJC6	NM_001256864.2(DNAJC6):c.2491+208_2491+209del	noncoding	Benign
1	65565843	T	TCACA	T65565845A	LEPR	NM_002303.6(LEPR):c.40+239_40+240insACAC	noncoding	Benign
1	65592521	G	GT	C65592533T	LEPR	NM_002303.6(LEPR):c.495-125dup	noncoding	Benign
1	65592521	GT	G	T65592532C	LEPR	NM_002303.6(LEPR):c.495-125del	noncoding	Benign
1	65618312	C	CCTCTT	T65618333C	LEPR	NM_002303.6(LEPR):c.2395+167CTCTT[5]	noncoding	Benign
1	65618332	T	TC	T65618333C	LEPR	NM_002303.6(LEPR):c.2395+186_2395+187insC	noncoding	Benign
1	65618333	T	TCTTC	T65618334C	LEPR	NM_002303.6(LEPR):c.2395+187_2395+188insCTTC	noncoding	Benign
1	65625973	ACACT	A	A65625975T	LEPR	NM_002303.6(LEPR):c.2673+2994_2673+2997del	noncoding	Benign
1	65637072	A	ATTACT	T65637076C	LEPR	NM_002303.6(LEPR):c.*60_*61insCTTTA	noncoding	Benign/Likely_benign
1	67021691	TCCAACA	T	C67021693A	SLC35D1	NM_015139.3(SLC35D1):c.730-95_730-90del	noncoding	Benign
1	67042397	CCACT	C	C67042400A	SLC35D1	NM_015139.3(SLC35D1):c.637-73_637-70del	noncoding	Benign
1	67047682	T	TGAAGCAGGCA	G67047705A	SLC35D1	NM_015139.3(SLC35D1):c.534-335TGCCTGCTTC[3]	noncoding	Benign
1	67049880	CAT	C	A67049881G	SLC35D1	NM_015139.3(SLC35D1):c.465-32_465-31del	noncoding	Benign
1	67050508	GA	G	A67050518G	SLC35D1	NM_015139.3(SLC35D1):c.393-5del	noncoding	Benign
1	67050508	G	GA	G67050519A	SLC35D1	NM_015139.3(SLC35D1):c.393-5dup	noncoding	Benign
1	67051789	T	TA	C67051797A	SLC35D1	NM_015139.3(SLC35D1):c.392+216dup	noncoding	Benign
1	67051803	CA	C	A67051809C	SLC35D1	NM_015139.3(SLC35D1):c.392+208del	noncoding	Benign
1	67053293	TA	T	A67053304C	SLC35D1	NM_015139.3(SLC35D1):c.204-305del	noncoding	Benign
1	67053293	T	TA	C67053305A	SLC35D1	NM_015139.3(SLC35D1):c.204-315dup	noncoding	Benign
1	67053888	CT	C	T67053890C	SLC35D1	NM_015139.3(SLC35D1):c.125del:p.Lys42fs	coding	Pathogenic
1	67054376	CCA	C	C67054379G	SLC35D1	Single_allele	noncoding	Benign
1	67200718	C	CT	G67200729T	IL23R	NM_144701.3(IL23R):c.492-9dup	noncoding	Benign
1	67200718	CT	C	T67200728G	IL23R	NM_144701.3(IL23R):c.492-9del	noncoding	Benign
1	67236692	ACT	A	C67236695T	IL23R	NM_144701.3(IL23R):c.956-18_956-17del	noncoding	Benign
1	67255828	GT	G	T67255834A	IL23R	NM_144701.3(IL23R):c.1149-3del	noncoding	Benign
1	67379965	CTTCCT	C	C67379968A	IL12RB2	NM_001374259.2(IL12RB2):c.1718-18_1718-14del	noncoding	Benign
1	68429872	GAGATA	G	A68429875C	RPE65	NM_000329.3(RPE65):c.1501_1505del:p.Tyr501fs	coding	Pathogenic
1	68429928	CT	C	T68429929G	RPE65	NM_000329.3(RPE65):c.1451-2del	coding	Pathogenic
1	68431071	CT	C	T68431073C	RPE65	NM_000329.3(RPE65):c.1443del:p.Asp482fs	coding	Pathogenic
1	68431154	GT	G	T68431158G	RPE65	NM_000329.3(RPE65):c.1360del:p.Thr454fs	coding	Pathogenic
1	68438199	C	CA	G68438203A	RPE65	NM_000329.3(RPE65):c.1115dup:p.Leu372fs	coding	Pathogenic
1	68438255	T	TC	A68438257C	RPE65	NM_000329.3(RPE65):c.1059dup:p.Lys354fs	coding	Pathogenic
1	68438989	GGTGTTGAT	G	T68438993A	RPE65	NM_000329.3(RPE65):c.943_950del:p.Ile315fs	coding	Pathogenic
1	68439053	C	CT	G68439061T	RPE65	NM_000329.3(RPE65):c.886dup:p.Arg296fs	coding	Pathogenic
1	68439053	CT	C	T68439060G	RPE65	NM_000329.3(RPE65):c.886del:p.Arg296fs	coding	Pathogenic
1	68439080	AC	A	C68439082T	RPE65	NM_000329.3(RPE65):c.859del	coding	Pathogenic
1	68439261	TTGA	T	T68439262A	RPE65	NM_000329.3(RPE65):c.785_787del:p.Phe262_Lys263delinsTer	coding	Pathogenic
1	68439271	T	TA	T68439274A	RPE65	NM_000329.3(RPE65):c.777dup:p.Asn260Ter	coding	Pathogenic
1	68439273	A	AT	G68439278T	RPE65	NM_000329.3(RPE65):c.775dup:p.Ile259fs	coding	Pathogenic
1	68440915	TTACCAATATTGTAAACGGTTCCATCATTTTCAATGTGGGGGTGAGCAGTGGCCCCATTGACAGAGACATAGTTGCAA	T	T68440916A	RPE65	NM_000329.3(RPE65):c.504_580del:p.Cys169fs	coding	Pathogenic
1	68440966	GCC	G	C68440969A	RPE65	NM_000329.3(RPE65):c.528_529del:p.Ala177fs	coding	Pathogenic
1	68444529	A	AC	T68444532C	RPE65	NM_000329.3(RPE65):c.495+1dup	noncoding	Pathogenic
1	68444664	GA	G	A68444671C	RPE65	NM_000329.3(RPE65):c.361del:p.Ser121fs	coding	Pathogenic
1	68448656	TC	T	C68448658T	RPE65	NM_000329.3(RPE65):c.61del:p.Glu21fs	coding	Pathogenic
1	68448668	TCAAA	T	A68448671G	RPE65	NM_000329.3(RPE65):c.46_49del:p.Phe16fs	coding	Pathogenic
1	70432139	ACT	A	C70432142A	CTH	NM_001902.6(CTH):c.784_785del:p.Leu262fs	coding	Pathogenic
1	70438698	AC	A	C70438699T	CTH	NM_001902.6(CTH):c.1064del:p.Thr355fs	coding	Pathogenic
1	74250831	C	CT	C74250848T	TNNI3K	NM_015978.3(TNNI3K):c.333+78dup	noncoding	Benign
1	74250831	CT	C	T74250847C	TNNI3K	NM_015978.3(TNNI3K):c.333+78del	noncoding	Benign
1	74353252	G	GT	C74353263T	TNNI3K	NM_015978.3(TNNI3K):c.933-4dup	noncoding	Benign
1	74353252	GT	G	T74353262C	TNNI3K	NM_015978.3(TNNI3K):c.933-4del	noncoding	Benign
1	74353644	CAA	C	A74353660C	TNNI3K	NM_015978.3(TNNI3K):c.1027+300_1027+301del	noncoding	Benign
1	74369279	G	GA	T74369286A	TNNI3K	NM_015978.3(TNNI3K):c.1472+21dup	noncoding	Benign
1	74436055	CT	C	T74436075A	TNNI3K	NM_015978.3(TNNI3K):c.1773-5del	noncoding	Benign
1	74436055	CTT	C	T74436074A	TNNI3K	NM_015978.3(TNNI3K):c.1773-6_1773-5del	noncoding	Benign
1	74436055	CTTT	C	T74436073A	TNNI3K	NM_015978.3(TNNI3K):c.1773-7_1773-5del	noncoding	Benign
1	74436060	T	TC	T74436061C	TNNI3K	NM_015978.3(TNNI3K):c.1773-20_1773-19insC	noncoding	Benign
1	74489172	C	CT	C74489179T	TNNI3K	NM_015978.3(TNNI3K):c.2122-11dup	noncoding	Benign
1	74540606	TA	T	A74540621C	TNNI3K	NM_015978.3(TNNI3K):c.2431+308del	noncoding	Benign
1	75732691	GC	G	C75732693A	ACADM	NM_000016.6(ACADM):c.168del:p.Arg57fs	coding	Pathogenic
1	75732727	GA	G	A75732728T	ACADM	NM_000016.6(ACADM):c.203del:p.Asp68fs	coding	Pathogenic
1	75732866	T	TA	T75732869A	ACADM	NM_000016.6(ACADM):c.232dup:p.Ile78fs	coding	Pathogenic
1	75732877	GCCTGGGAA	G	C75732879T	ACADM	NM_000016.6(ACADM):c.243_250del:p.Glu83fs	coding	Pathogenic
1	75733582	A	ATG	G75733585T	ACADM	NM_000016.6(ACADM):c.342_343dup:p.Gly115fs	coding	Pathogenic
1	75733615	GA	G	A75733618T	ACADM	NM_000016.6(ACADM):c.377del:p.Asn126fs	coding	Pathogenic
1	75733621	C	CT	G75733625T	ACADM	NM_000016.6(ACADM):c.383dup:p.Leu128fs	coding	Pathogenic
1	75733710	G	GA	G75733720A	ACADM	NM_000016.6(ACADM):c.387+91dup	noncoding	Benign
1	75740026	TA	T	A75740029G	ACADM	NM_000016.6(ACADM):c.518del:p.Lys173fs	coding	Pathogenic
1	75745857	AG	A	G75745858C	ACADM	NM_000016.6(ACADM):c.652del:p.Ala218fs	coding	Pathogenic
1	75749450	C	CTA	G75749453T	ACADM	NM_000016.6(ACADM):c.741_742dup:p.Arg248fs	coding	Pathogenic
1	75749484	TAAAGA	T	G75749488T	ACADM	NM_000016.6(ACADM):c.778_782del:p.Glu260fs	coding	Pathogenic
1	75749507	ACGGAG	A	G75749509T	ACADM	NM_000016.6(ACADM):c.799_803del:p.Gly267fs	coding	Pathogenic
1	75749510	GA	G	A75749511G	ACADM	NM_000016.6(ACADM):c.801del:p.Ala268fs	coding	Pathogenic
1	75749704	TTTTC	T	C75749712T	ACADM	NM_000016.6(ACADM):c.849+153_849+156del	noncoding	Benign
1	75761130	AAT	A	A75761133C	ACADM	NM_000016.6(ACADM):c.957_958del:p.Ser320fs	coding	Pathogenic/Likely_pathogenic
1	75761185	T	TA	C75761187A	ACADM	NM_000016.6(ACADM):c.1010dup:p.Tyr337Ter	coding	Pathogenic
1	75761195	CAGCTTGGG	C	C75761198G	ACADM	NM_000016.6(ACADM):c.1022_1029del:p.Ala341fs	coding	Pathogenic
1	75761217	TC	T	C75761218G	ACADM	NM_000016.6(ACADM):c.1042del:p.Arg348fs	coding	Pathogenic
1	75815125	GGTTCAGTC	G	G75815126C	MSH4	NM_002440.4(MSH4):c.805_812del:p.Val269fs	coding	Pathogenic
1	75889321	TG	T	G75889322A	MSH4	NM_002440.4(MSH4):c.2179del:p.Asp727fs	coding	Pathogenic
1	75889362	TGAAA	T	A75889365G	MSH4	NM_002440.4(MSH4):c.2222_2225del:p.Lys741fs	coding	Pathogenic
1	77219315	T	TA	T77219317A	PIGK	NM_005482.3(PIGK):c.87dup:p.Ile30fs	coding	Pathogenic
1	77917475	AT	A	T77917481A	NEXN	NM_144573.4(NEXN):c.28-85del	noncoding	Benign
1	77918103	CT	C	T77918111C	NEXN	NM_144573.4(NEXN):c.299-14del	noncoding	Benign/Likely_benign
1	77941824	C	CT	A77941826T	NEXN	NM_144573.4(NEXN):c.1474-198dup	noncoding	Benign
1	77942370	TA	T	A77942381T	NEXN	NM_144573.4(NEXN):c.1660-80del	noncoding	Benign
1	85270908	T	TA	G85270913A	BCL10	NM_003921.5(BCL10):c.58-3dup	noncoding	Benign
1	85465439	T	TGCAC	A85465444G	DDAH1	NM_001134445.2(DDAH1):c.-7+30723_-7+30726dup	noncoding	Benign
1	85580495	ACC	A	C85580500G	CCN1	Single_allele	noncoding	Benign
1	85580495	ACCCC	A	C85580498G	CCN1	Single_allele	noncoding	Benign
1	85580496	C	CA	C85580497A	CCN1	Single_allele	noncoding	Benign
1	85580497	C	CACA	C85580498A	CCN1	Single_allele	noncoding	Benign
1	85580497	C	CACACA	C85580498A	CCN1	Single_allele	noncoding	Benign
1	85580528	GACAGACACACACACAGACACACAC	G	G85580532C	CCN1	Single_allele	noncoding	Benign
1	85580528	GACAGACACACACACAGACACAC	G	G85580532C	CCN1	Single_allele	noncoding	Benign
1	85580528	GACAGACACACACACAGACAC	G	G85580532C	CCN1	Single_allele	noncoding	Benign
1	85580532	GACACACAC	G	C85580536G	CCN1	Single_allele	noncoding	Benign
1	86915095	TCGC	GAA	T86915095G	HS2ST1	NM_012262.4(HS2ST1):c.59_62delinsGAA:p.Phe20_Ala21delinsTer	coding	Pathogenic
1	87073150	CA	C	A87073151G	HS2ST1	NM_012262.4(HS2ST1):c.342del:p.Pro114_Val115insTer	coding	Pathogenic
1	91980965	GA	G	A91980966T	BRDT	NM_207189.4(BRDT):c.1538del:p.Asp513fs	coding	Pathogenic
1	92247041	GAA	G	A92247044G	GLMN	NM_053274.3(GLMN):c.1668+19_1668+20del	noncoding	Benign
1	92247304	CAG	C	G92247306A	GLMN	NM_053274.3(GLMN):c.1586-162_1586-161del	noncoding	Benign
1	92263655	AC	A	C92263658T	GLMN	NM_053274.3(GLMN):c.1376del:p.Gly459fs	coding	Pathogenic
1	92264417	GA	G	A92264423T	GLMN	NM_053274.3(GLMN):c.1299+136del	noncoding	Benign
1	92266165	ATTTAGAGTATTCCAATTGATTGAACTGCAATATATACTATTAGTCATACAAAATATAGACATATATATAGTATGTCTGAAATATTTGATTAACCCTTTCTCTAGCCATCACTGAGAATTTATAATATGGGTTCCAACCAGAGTTGAATTACATGTAAAACATACCGACATACTATGCCCTAAAACAATTACATGGCATTAACATGACTTTTAATCAACCACACACTTAGCAATTAGCCATGCTTGATACATACCTAAATAATGTATATTTGCCTTGTGAATCCAACTTGTTAATATACAGCTGAAGCATAGCTAAACTCTTTTTCCTCTAAAATGGAACAAACAATATTATTATATAAAATGAATAAAGCTTACCCAGACTTCATCACTATCCATTTTATGCATGTAATACATCCACACTTGTACCTCCTAAATAAAAATTTCACAAATTAAAATTTTTAAAAAGAAAATTAAATTATTTGTCAAATTTTCTCACTGTAACTCATTATTCTTTAGTCACCAAATATTTACATACCAGTGTCTCAATGGGGCAAAGTGTCATTACTTTCACTAAGCCCTGGAAATAAAAAAATGTAAAATTCAGATGTAAACAGATTATACTGACTGCAAACAAACAACTATAATACATCAATAGGATACTAAAAATTCAGAGAAGTGAGGGTAGGAGATTTAAAAGTGAAGTAAATTAATTTTTCCCTAAGCCTTCCATTCCAGAAAGCTAACTACAATTGATTTTTTAAGTGATATTGAGTAGAGTGTCACACAGTGTACTTTTAAAAGCAAACGATAATTTTCAATTATGTCTACAGTGGCAAGAAAATGAAATCAAATCTACAGAAATATAATTTATTAATTAAAAACAATCAAACAATATGTTAACAAAAACCATGTTTTTCTATTTAAATATTAGGAAAACCAGTTCCCACACTGAAATCTAAGGATTTCCTTGGATATCATAACTAACAAAGAGGATTGGGCAAAATAAACCATAGGAGGGAAAAACACAATGTGTATTAGTCTTTCTGGTAATGAGTCAGTGGATGCCTTAGATGGAGTCCTGAGAACTTGAGTTATGAGAAACATAAAGAAGCTTCATTTTCCAAGATCCCTACAGAAATAAAGTGTTAAAAGAAGAAAGTTATGCTTTTCTACTGGATGCTGTGCTATCAATAATGGTGGCCTCTAATAGCTATTCGTGTTTAAATAAATTAAAATTTAAATTTGAAACTTAGTTCCGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCTGAGGCAGGCTGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTATAAATACAAAAATATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAATGAACCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATAGCACCACTGCACTCCAACCTGGGCGACACAGCAAGACTACACCTCAAAAAAAAAAAAAATAGTTCCTTAGTCACATTTCAAGTGTTCAGTTTGGCTAGTGGCTTTCATATTGTCAAAGTTCTACTGGACAGCATTACACCAGAGTTTTCAAAGGTTGCAGAGAAAAGAGTGGGAAAGGAATCAGAAAAGACCTTACTTTAAGTTCAGAACAGGCAAAGGGCTATTTTCAATATTAGAATACATATTTTATTTACCTGAGGTACAGTAAGAAAACTCTTGATTTCTAAGTACTGGTAAAGTAGACTATTGTCTTCTATTCTCAATAAACTATTCTCCAGCAGCTCCTACAGATTAAAATATATGCAGATACATATATAGTGAAGTCAACAGCTGTTATTTGTTGACATAACTATGTATTTAAGTTATAATGGGAACAAACATCTTACCAATCCTTTGGAGATAACAGACTCTTCTGTTCTGAAAAATAATATTAAAATTTATCATGAATTTGTAAACTATTTTAGAATGATACTTCATCTTATGAAAAATACAGCAAAAACTGAAATTTTAACACTTTTAAAATGCATATCATTAAGGAGAAATTCTGTTGAAGAACTTGATCAAAAGTTTTAATCCATCTTTGATCTGTCTTTCGGTTTGGCTAAGGCCACTAAATCTGACCAAAATAAATCTACTCAGGGATTATTTCCTAACTTCAAAACAATAGATCTTCAACAGCAAGTGCTAAGAAACTAACTAAACCTGATATAACCAATGCTATATATTCCAGTTGATTATTCTGTAAAATCTTTCCAATTCTTTTTATTCAAAAAAAGACTCAATGACTCTGCAGTTTGGAAATCTCAAGAATTTAGGACTTAGATTCAAAACAATACATATTATCACTGTATGAATAACAGAAACTAAATGTAATGAATATAAAATCATTAAAACATACATAATACAGCAAATTTACAGAATTAGTAACTACTTGTGCCAGGAGACCCTTGGAAATTCCTGCCTTGTATGCTGAAGCTTTGGACATTGCCATGTTACAAATCTTCCTTCACCTGGTAAGAGATGGGACTGATAAACTGTCACTAGTGTTCATAGAGGATAATTGCAAAGCCCTAACTGATCTCAGGGGATAATTTAAACATGTTACATGTTATAGTGAAAGAAAACAAAGCATATAGTTCTGTGAAATTCTTTAATTTCTGTCTAGAAATTATGTATACCTGTTACTCTGTAATTTCCTTTTTTTTTTTTTTTTCTTTTGCGACAGGGTCTTACTCTGTTGCCCAGGCTGGACTGCAGTGGCATGATCTCTGCTCACTGCAGCCCAGACCTCCCAGGCACAGGTGATTCTTTCACCTCAACCTCCCAAGTAGCTGGGACAACGGGCAGGCGCCACCACTCCTGGCTAATTTTTTCTATTTTTTGTAGAGAGAGAGACTGGTTTCGAACTCCTGGGGTCAAGCAATCCTCTCGCCTTGGTCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCTGGCTTTTTTTTTTTTTTTTTAAATAGAAAGTCCTGCTGCTTAGCACCTCAAATGAGAAAAGTTGTAATTGAATGACATCACTGTCAATAATCTAAATTATAAAAGGTGGAAGTCAAGACACCTCCTTCCTTTTGATGCAATTCACAGACTGTGTCCATGAAGGAAAAATACGGAAGAACTTCTTTTATTGACTGCCCTTCCTTAAGATGGAGGAGGATGCAGTGGGGTAGAGGTGTTTTAATTTACCAACTTTTGGAGTAAGAGAAGAAACCTTAGAAACAGATGACTGTAAAAGCCCTTAAGACAAAATCTTAATACTGTCTTAAGTTTAAAATAAAACAGACTTTGGTGTAAAACCTCCTTGACTCATTTCTGTCTCTCTCGTGAATTATTTGCCTCGCTGTTTTATAAAATAACCAATTAATTAATTAGAGCTTAGCAAAGAAAAGGCAGTCTCCGCTGATCTTAACAAGGACTATTTTAACACTACTATTTCATTTTGAGATACCATCTAAACGATCTTACCTTTGCAAAAAGACTTCAATGTGCCCCATATTAAACTGCAAAAGGTACAATGGGCTAAAATAGAAACAAAACAAATATATATATTATACACACACACAGAGATATGTACACACATACATATTGTTATGGGTTGAATTGTATCTCCCCCAAAAAAGATATGTTGGAGTCCTAACCTCTAGTACCTCAGAATTTGACCTTATTTGGAGATAGGGTTATGGAGGTAATCAATTTAAAATGAGATTATTAGGGTGGGCCCTAATCCAATATGACTGTTGTCCTTATGTAAAAGGAAAGTTTGGAGACAGACACAAGCACACAGGGAGAACAGCATACGAACATGAAGGCAGAGAACAGGATAATGCATCTACAAGCCAAAGACCATCAAAGATTGTGAGCAAATCACCAGAAGCCAGGAGAGAGGCATGGAGAAGATTCTCCTTCACAACCCTCAGAAGGAGCATCCAGAACTATGAGACAAACTATTTCTGTTATTTCAACCATCCAGTTGGTAGCACTTTTTTACAGGAGCCCTAGCAAGTTAATATACATATGCTGTATAAGTTATTTTGGTGATAGAATGTGATGCTTAAGAGTATAGGCTCTGGGGTCAGACAGAGCTATCTGCATCCCACCTATGCCACAAAGTAGTTAGATCTTCAGTGGTATATTAACTTGTCTAAGCCTGTTATTTTCATCTGTAAAATGAGAGAATGCTCTATTTCACAGGCTTATTATAAGGATGAGATAATGCATATAAAGTTATTAGCATAATGTTTCATACATGGTGAACATGCAAATGATAGCCAGTATTTCAACATTTACATACGAATGTACTCCTAGCTATATTCATATATAAATGCACAAACTCACACAAATACCCAATGCCTATAAGACAAATACACAATCCTTATTATCATAGAACTCAAAGTCCAGAAGATATTACATTATAAAATTATATATTTTAAAAATAATTTTAATAAACATTGTGGGAAAAGAAGACAAGGTCAAGGTAATTATAATAGAAGGATTCAACCTAAATTGGGTGGTGAGTGAAGGCTTTCTTCAGAAAGTGACATTTAAGGATAAAGAGAATTTTAAGCATATACAAAGGCCAAATAGGAAAATTCATAACATTTAAACTAGAAACAAAAGAAGGTCTGTGTCACTGGAGCATAGTAAACAAGAGGAAAGGTGGTAGGAGATGAATCAGGTCAATTAAGCAGGGACCAGACCAGGCACAAGTTTGTCTCAGAAGTTATGCAAAGGCATTAAGACTTTATTCTTAAAGCAATAAAAAGCCACTGGAGGGTTTTCAGTAAGGGACTTCTTTTAAGGCTTCGCTTTCTGGTATGTTGAGAATGTGTTAAATTAAAAGGAAGTAAAAGTAGATATATAAATCCACTCAGGATTACAGCAGTAATCCAGTGAAAAGATGATGATACCCCTGGGTACCTGGCTAGTTCCAGGGTGGTCTCAAAAGCTTCAAAACCAAGCCCTGTTTATCATCTTCTGATTCTTGTCCCCACCATTCCCTTACACCTATTTCAACACTCCCCACTTTCATTACTTGTCTACTGCTATCTTTAACAGATTATAGCTGGGATCATTCTTATTAAAAATAGCCTTTACTATTTATTTAAAATGTATTAGTGTGTTAATATGCATATATTGGACATTAGATAAATGAGAATTTTATGAAATTCCTTTTAGAATACATGAATAAACCAAACACTAACTCTTACCTTAAGACCATTGGAAGCTGATCAATATGGATGCCCTGTACAAATACTAGATATGCCAGAGAAGCCATTGAGTCTGCTAACTGTTTATTTTCTTCTTCTTCAAATTCAAGGTAATTCCAAGTTCTCTTTTTCCTTCCATGATTAAAAATCATTTTGGGGAAAGGGTGTCCAATTGCTGATAAAAAACCCTATGAAATGGATAAAAAAGGAAACCATAGCACACAGACTCTAAAATGCCCCCCACCCCGTGTATTCAAACTCCACATTCTCACCAAGGGGAGGTGTAATCACTCCCTTTGAGCGTGAGTGGGACCTATGAGACTTGCTTTCAACCAACAGAATGCGCCAAGATGTCACTCCCATGATTAGATTATATGACAAAAGTGAAGGGGTTTTTGCAGATGTAATTAAGGTCCCAAATCAGTAGATTTTGAGTTGGGTGGCCCTAACTTAATCAGGTATATTTTTAAAGGGGGTCCAGGCCTTCCCTGAGAGTCAGAAACTTTGCTCTCTGACTCTCTCCCTTGCTGGCTTTAAAGAACTAAGCTGCCATGTTATGAGAAGGCTCATGGACAGAACTACATGGCAAGGGACCAACTACAGGCAGCTCCTAGAAGCTAAATGTGGTCCCTGGCTGACAGCCAGCAAGAAAATGGGGACCTCAGTCCTACAGCTTAGAGGAAATGAATTCTGCCAGCGGAGGAAACCTGAAAGTGGATCTTTCCCCAGTTAAGCTTCTGATAAGACTACAGACCCAGTCAACAACTGGCCTGTAGCCCAATGAGACCCTGAGCAGAGGACCCAATTAAGCTGTGGCTGGACTCCTGATCCATAGAAACTGTGAGATAACAAAGGTATGCTGTTTTAAACTGCTAAGTTTGCAGGAATTTGTTATACAGCAATGAAAAACTAATACAGAAGCCAACAGCAAAATCGTATTTTACATAGCATTTTATACATCAGAAGTATTCTAAATTAATTCAGAATCATAGTTTAAAAAGTTTAAAATGATGAATTTTATGTATATTTCACCACAATTTTTTTTAAAAAAGTGCTTCAGGGATATTTGAGAGCAATCTGAAACGTGAGACATACAAATATATGAAGCAAGGGTAAAGCAACTAAGATGAAGAATACTCTAGGAACAATGCTCCACTAACATTGTGCCTGTAGAGAGTGGGATGCAGGAACGCTGGGCAGGGCAGCTGGGCCTGAGGAAACACTGTTGATCTCTCAGTCATCAGGGTTCTCATGTGAGACGAGAAAGAGAAGCATCCTTGCATGAGTGGGTAGGACCACAGGGCTAAATAAAGCTTTCCGCTCAGGAAACAAGATCACTCCTATGCCTCTTATACTGGTACTAATTCTAGCGTACCAGAAAGCACCTACCTTCAGAATCCACTGACATTGATTTTGAGTTTTGGCTCTACCATTTACTACTTGTGTGACACTGGATGAGCCATAAAATGACATAATACCTATGTCAAATATTTATCGAGCAGCTCCACAAAAAAAGCGTAAGAAAGTTAAAGTCACAACAAACTACAAGAGTTAAAAGGGAATGAATGACAAAAACAGCTAAAGCAGAATGAATAACTTCCACACAAGTCACTCTTTTATTCAATAAACACTTAAGTGCAAGGTGCTGGGCCTGACTTTGTGGGGAATTATAAAGCCAAGTATAAGTCTTTTCCAGCCTTCAGGGACTTAAAATCTGCTGATCCCAGATGGTTCCATTAGTCATTTCAGAATACAAAAAGGAACCATGGAAAATCATCCTCAGTCACAAGAGACTGCTATTCAGCGACCAGATGCTAAATATATACTGCTGCAGTGATTTTCAAAGCCATGCATTCTGGTTATAGCTACAAGACAAAAAGTTTATTGCACTCTGATTCCAAATGTCCTTAATCATGAAGCTCCATTTCTTTATTCAGCCAATGCTACATGTGTTTTTTCCAGAGTAAGGTAGCCCTGTTTTTTTTTTTTTTTTTTTTGGCGACAAGGTCTCACTCTGTCACTCAGGCTGGAGTGTAGTGGCATGATCATGGCTTACTGCAGCCTTGACTTCCCCAGGCTCAAGCAATCCACCCTCCTCAGTCTCCTGAGTAGCTAGGACTACTGGTACATGCCACCATGCCCGCTATTTTTTTTTTATTTTTTTTATTTTTTATAGAGATGGGGTTTCGCCATGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTTAAGTGATCTGCCCACCTTGGCCTCCCAAAGGCCTGGGCCTACAAGCGGGAGCTACCGTGCCCAGCCTAAGATACCCTTTTTAAAACATTATTATATGCAACTAGATTCTACAGTGCTGCTCTGGATATCTGAGATCCAATCTGTTCCCAAATCTGGGCCTTCACTATCTATCCACACACCATCCAGCAGTCTTGCTCAGATCCAGGCTGTACCTGGCACCATACAATTTCTCAATATTCATGGCAGCTTTTGTCCTTTCAGAAATGTTCCTGTACTACAGCCTTTGGGACATTCTAGTAGTTCTGTACCAAAATAACTTGTACCAAAGTGAGGATGGCTGAGGCCTGTGAATCCCAACCACACCACACTTACCAGTACTTCTCCAGCACAGAACAGAAGACATCTCCTCATTTCATCTCCAAGCTGGTCTCACCTCTACTTCTAGACTGCTACGTGCATCCTTACTGCTGGCTCTTTCTACTTGCAATGTTCCTTCTACTGAGATTTTAGAACCACTCACCTACATCCTCAGTCTCTTCATAGGATGCTTGTTCTGCCTCACTGCTTTAACTAAACCTGTCTGATTTCTGGTGGGAGATGCTCATTCTCACACCTTTTATACCACAGGGCCTGGAATGCAGCTGTTGGGTAGAGGAGTACAGGTAGGGGCTTAGCACAGTATTGTAGTATTGGCTTTTTCTGTACTTTTCAACAAAAGCACATTTTCCTTTGATGCAGATAACATACTGTCCTTTTCTCTGTCATATGCTGACTTCCTGGTAATTTCCTGACATTCACTGAAGACTCTGGCACCTTCTCATAATCTTTTTCTCTACCCAATTCCTGCTA	CC	A92266165C	GLMN	NM_053274.3(GLMN):c.736-2886_1214+254delinsGG	noncoding	Pathogenic
1	92266478	T	TA	C92266482A	GLMN	NM_053274.3(GLMN):c.1154dup:p.Leu385fs	coding	Pathogenic
1	92266481	ACT	A	C92266484T	GLMN	NM_053274.3(GLMN):c.1150_1151del:p.Ser384fs	coding	Pathogenic
1	92267703	CA	C	A92267717T	GLMN	NM_053274.3(GLMN):c.1098+209del	noncoding	Benign
1	92267931	ACT	A	C92267934T	GLMN	NM_053274.3(GLMN):c.1078_1079del:p.Ser360fs	coding	Pathogenic
1	92267937	GA	G	A92267938T	GLMN	NM_053274.3(GLMN):c.1073del:p.Ile358fs	coding	Pathogenic
1	92268128	CTTCTG	C	T92268134A	GLMN	NM_053274.3(GLMN):c.980_984del	coding	Pathogenic
1	92288956	TTTTC	T	C92288960G	GLMN	NM_053274.3(GLMN):c.586_589del:p.Glu196fs	coding	Pathogenic
1	92288988	AGGCT	C	A92288988C	GLMN	NM_053274.3(GLMN):c.554_558delinsG:p.Lys185fs	coding	Pathogenic/Likely_pathogenic
1	92290255	GC	G	C92290256T	GLMN	NM_053274.3(GLMN):c.336del:p.Glu112fs	coding	Pathogenic
1	92297115	C	CT	C92297134T	GLMN	NM_053274.3(GLMN):c.165+271dup	noncoding	Benign
1	92478757	C	CAGAGAG	T92478795G	GFI1	NM_005263.5(GFI1):c.925-40CT[21]	noncoding	Benign
1	92833409	GA	G	A92833411T	RPL5	NM_000969.5(RPL5):c.26del:p.Asn9fs	coding	Pathogenic
1	92833442	AT	A	T92833445A	RPL5	NM_000969.5(RPL5):c.60del:p.Phe20fs	coding	Pathogenic
1	92833553	AC	A	C92833554T	RPL5	NM_000969.5(RPL5):c.83del:p.Thr28fs	coding	Pathogenic
1	92833562	T	TA	T92833564A	RPL5	NM_000969.5(RPL5):c.92dup:p.Tyr31Ter	coding	Pathogenic
1	92833623	TG	T	G92833624A	RPL5	NM_000969.5(RPL5):c.153del:p.Met51fs	coding	Pathogenic
1	92833646	GAT	G	A92833649C	RPL5	NM_000969.5(RPL5):c.178_179del:p.Ile60fs	coding	Pathogenic
1	92834810	T	TA	G92834812A	RPL5	NM_000969.5(RPL5):c.222dup:p.Val75fs	coding	Pathogenic
1	92836324	T	TTGAA	A92836325T	RPL5	NM_000969.5(RPL5):c.459_460insTGAA:p.Thr154Ter	coding	Pathogenic
1	92836364	G	GT	G92836366T	RPL5	NM_000969.5(RPL5):c.500dup:p.Asp168fs	coding	Pathogenic
1	92837507	A	AGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATTT	A92837548T	RPL5	NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT:p.Tyr207fs	coding	Pathogenic
1	92837534	G	GA	T92837537A	RPL5	NM_000969.5(RPL5):c.608dup:p.Asn203fs	coding	Pathogenic
1	92837669	AT	A	T92837672A	RPL5	NM_000969.5(RPL5):c.705+39del	noncoding	Benign
1	92840649	C	CT	G92840659T	RPL5	NM_000969.5(RPL5):c.794+19dup	noncoding	Benign
1	92840649	CTTT	C	T92840656G	RPL5	NM_000969.5(RPL5):c.794+17_794+19del	noncoding	Benign
1	92840649	CTTTT	C	T92840655G	RPL5	NM_000969.5(RPL5):c.794+16_794+19del	noncoding	Benign
1	94010647	CT	C	T94010648A	ABCA4	NM_000350.3(ABCA4):c.5714+152del	noncoding	Benign
1	94010807	AG	A	G94010808A	ABCA4	NM_000350.3(ABCA4):c.5706del:p.Ser1903fs	coding	Pathogenic
1	94011428	A	AC	T94011436C	ABCA4	NM_000350.3(ABCA4):c.5461-50dup	noncoding	Benign
1	94011435	CT	C	T94011436C	ABCA4	NM_000350.3(ABCA4):c.5461-51del	noncoding	Benign
1	94014363	AAGGAAGGATGGG	A	T94014372A	ABCA4	NM_000350.3(ABCA4):c.5460+168_5460+179del	noncoding	Benign
1	94014549	AT	A	T94014551C	ABCA4	NM_000350.3(ABCA4):c.5453del:p.Asn1818fs	coding	Pathogenic/Likely_pathogenic
1	94014638	TG	T	G94014642A	ABCA4	NM_000350.3(ABCA4):c.5364del:p.Ser1789fs	coding	Pathogenic
1	94015448	G	GA	C94015449A	ABCA4	NM_000350.3(ABCA4):c.5312+290_5312+291insT	noncoding	Benign
1	94015840	CA	C	A94015841C	ABCA4	NM_000350.3(ABCA4):c.5210del:p.Val1737fs	coding	Pathogenic
1	94018208	T	TAC	G94018220C	ABCA4	NM_000350.3(ABCA4):c.5196+1364GT[6]	noncoding	Benign
1	94018503	AT	A	T94018505G	ABCA4	NM_000350.3(ABCA4):c.5196+1078del	noncoding	Benign
1	94019575	CACTT	C	T94019578G	ABCA4	NM_000350.3(ABCA4):c.5196+3_5196+6del	noncoding	Pathogenic/Likely_pathogenic
1	94019640	TG	CT	T94019640C	ABCA4	NM_000350.3(ABCA4):c.5137_5138delinsAG:p.Gln1713Arg	coding	Pathogenic/Likely_pathogenic
1	94019680	AAAGGACAAAGCTGGCTGGGACG	A	A94019688T	ABCA4	NM_000350.3(ABCA4):c.5076_5097del:p.Val1693fs	coding	Pathogenic
1	94021276	AG	A	G94021280T	ABCA4	NM_000350.3(ABCA4):c.4981del:p.Pro1660_Leu1661insTer	coding	Pathogenic
1	94021319	TG	T	G94021320T	ABCA4	NM_000350.3(ABCA4):c.4938del:p.Asp1646fs	coding	Pathogenic
1	94021362	AT	A	T94021364G	ABCA4	NM_000350.3(ABCA4):c.4895del:p.Asn1632fs	coding	Pathogenic
1	94021731	CA	AC	C94021731A	ABCA4	NM_000350.3(ABCA4):c.4774-18_4774-17delinsGT	noncoding	Benign
1	94021731	CA	C	A94021734C	ABCA4	NM_000350.3(ABCA4):c.4774-18del	noncoding	Benign
1	94021879	TAAAA	T	A94021881C	ABCA4	NM_000350.3(ABCA4):c.4736_4739del:p.Gly1578_Phe1579insTer	coding	Pathogenic
1	94021880	AAAAAC	GG	A94021880G	ABCA4	NM_000350.3(ABCA4):c.4734_4739delinsCC:p.Phe1579fs	coding	Pathogenic
1	94023386	CT	C	T94023387C	ABCA4	NM_000350.3(ABCA4):c.4666del:p.Arg1556fs	coding	Pathogenic
1	94025016	GT	G	T94025017C	ABCA4	NM_000350.3(ABCA4):c.4571del:p.Asp1524fs	coding	Pathogenic
1	94025045	TTC	T	C94025049G	ABCA4	NC_000001.10:g.94490602_94490603del	coding	Pathogenic
1	94029462	C	CCCCGGCA	T94029473G	ABCA4	NM_000350.3(ABCA4):c.4515_4521dup:p.Gly1508fs	coding	Pathogenic
1	94029514	G	GCA	C94029518A	ABCA4	NM_000350.3(ABCA4):c.4468_4469dup:p.Ser1491fs	coding	Pathogenic
1	94029620	CA	C	A94029621G	ABCA4	NM_000350.3(ABCA4):c.4363del:p.Cys1455fs	coding	Pathogenic
1	94030299	TCAGAGACATGGAAGTGACCAGCAGAGCAGGATTGAGTGGGGCCTCCCCAACGCCTGCCATCTTGAACCCACCGTTGGGTCCTCCCAGGGGAGCTAGTCTTCTTAGGACAGGGGCGCGTAGGCACTTACGGAAGCCACCCTTCCTTCAGGCAGCGGTTGCCAAAGCCTGGCTTATTCAGG	T	C94030300A	ABCA4	NM_000350.3(ABCA4):c.4302_4352+128del	noncoding	Pathogenic
1	94031043	A	AG	C94031045G	ABCA4	NM_000350.3(ABCA4):c.4205dup:p.Leu1403fs	coding	Pathogenic
1	94031954	TG	T	G94031956A	ABCA4	NM_000350.3(ABCA4):c.3951del:p.Asn1318fs	coding	Pathogenic
1	94031973	T	TCCAGC	T94031980C	ABCA4	NM_000350.3(ABCA4):c.3928_3932dup:p.Gln1312fs	coding	Pathogenic
1	94036747	CAG	C	A94036750G	ABCA4	NM_000350.3(ABCA4):c.3853_3854del:p.Leu1285fs	coding	Pathogenic
1	94037265	GA	G	A94037267G	ABCA4	NM_000350.3(ABCA4):c.3692del:p.Phe1231fs	coding	Pathogenic
1	94040117	CT	C	T94040118G	ABCA4	NM_000350.3(ABCA4):c.3532del:p.Ser1178fs	coding	Pathogenic
1	94041513	TA	T	A94041524C	ABCA4	NM_000350.3(ABCA4):c.3329-112del	noncoding	Benign
1	94043408	G	GC	T94043410C	ABCA4	NM_000350.3(ABCA4):c.3117dup:p.Leu1040fs	coding	Pathogenic
1	94043463	AG	A	G94043464C	ABCA4	NM_000350.3(ABCA4):c.3062del:p.Ala1021fs	coding	Pathogenic
1	94043771	C	CT	G94043780T	ABCA4	NM_000350.3(ABCA4):c.3051-304dup	noncoding	Benign
1	94044071	TTCTC	T	T94044072C	ABCA4	NM_000350.3(ABCA4):c.3050+538_3050+541del	noncoding	Benign
1	94044656	GC	G	C94044658G	ABCA4	NM_000350.3(ABCA4):c.3006del:p.Gln1003fs	coding	Pathogenic
1	94044695	CA	C	A94044697C	ABCA4	NM_000350.3(ABCA4):c.2967del:p.Gly991fs	coding	Pathogenic
1	94044713	AGGTT	A	T94044717G	ABCA4	NM_000350.3(ABCA4):c.2946_2949del:p.Thr983fs	coding	Pathogenic
1	94044713	AGGTTGGTGGCAACAGACCCGTCAGGATG	A	G94044715A	ABCA4	NM_000350.3(ABCA4):c.2922_2949del:p.Ile975fs	coding	Pathogenic
1	94046928	GT	G	T94046932C	ABCA4	NM_000350.3(ABCA4):c.2908del:p.Thr970fs	coding	Pathogenic
1	94046957	TG	T	G94046958C	ABCA4	NM_000350.3(ABCA4):c.2879del:p.Ala960fs	coding	Pathogenic
1	94047029	CT	C	T94047032A	ABCA4	NM_000350.3(ABCA4):c.2807del:p.Lys936fs	coding	Pathogenic
1	94047101	G	GA	T94047110A	ABCA4	NM_000350.3(ABCA4):c.2744-9dup	noncoding	Benign
1	94048868	CGT	C	G94048871A	ABCA4	NM_000350.3(ABCA4):c.2741_2742del:p.His914fs	coding	Pathogenic
1	94048897	TC	T	C94048899G	ABCA4	NM_000350.3(ABCA4):c.2713del:p.Glu905fs	coding	Pathogenic/Likely_pathogenic
1	94048919	CG	C	G94048921T	ABCA4	NM_000350.3(ABCA4):c.2691del:p.Glu898fs	coding	Pathogenic
1	94055118	C	CACCT	G94055123A	ABCA4	NM_000350.3(ABCA4):c.2576_2579dup:p.Phe861fs	coding	Pathogenic
1	94055149	TAGAC	T	A94055152C	ABCA4	NM_000350.3(ABCA4):c.2545_2548del:p.Val849fs	coding	Pathogenic
1	94056688	ACTA	CCT	A94056688C	ABCA4	NM_000350.3(ABCA4):c.2292_2295delinsAGG:p.Cys764_Ser765delinsTer	coding	Pathogenic
1	94056743	AG	A	G94056744C	ABCA4	NM_000350.3(ABCA4):c.2239del:p.Leu747fs	coding	Pathogenic
1	94060627	AC	A	C94060630T	ABCA4	NM_000350.3(ABCA4):c.2069del:p.Gly690fs	coding	Pathogenic
1	94060656	GC	G	C94060657A	ABCA4	NM_000350.3(ABCA4):c.2040del:p.Leu680fs	coding	Pathogenic
1	94062700	CA	C	A94062701G	ABCA4	NM_000350.3(ABCA4):c.1813del:p.Trp605fs	coding	Pathogenic
1	94063114	GT	G	T94063115C	ABCA4	NM_000350.3(ABCA4):c.1757del:p.Asp586fs	coding	Pathogenic
1	94063121	ATC	A	C94063123T	ABCA4	NM_000350.3(ABCA4):c.1749_1750del:p.Lys583fs	coding	Pathogenic
1	94063141	CA	C	A94063142C	ABCA4	NM_000350.3(ABCA4):c.1730del:p.Val577fs	coding	Pathogenic
1	94063175	TG	T	G94063179T	ABCA4	NM_000350.3(ABCA4):c.1696del:p.His566fs	coding	Pathogenic
1	94063284	CAT	C	A94063285T	ABCA4	NM_000350.3(ABCA4):c.1586_1587del:p.Asn529fs	coding	Pathogenic
1	94063302	TA	T	A94063303T	ABCA4	NM_000350.3(ABCA4):c.1569del:p.Asp523fs	coding	Pathogenic
1	94063310	AC	A	C94063312A	ABCA4	NM_000350.3(ABCA4):c.1561del:p.Val521fs	coding	Pathogenic
1	94077801	GA	G	A94077803G	ABCA4	NM_000350.3(ABCA4):c.1442del:p.Phe481fs	coding	Pathogenic
1	94077875	T	TC	A94077880C	ABCA4	NM_000350.3(ABCA4):c.1368dup:p.Asn457fs	coding	Pathogenic
1	94077880	AG	A	G94077883T	ABCA4	NM_000350.3(ABCA4):c.1363del:p.Leu455fs	coding	Pathogenic
1	94078578	A	AC	A94078579C	ABCA4	NM_000350.3(ABCA4):c.1356+11_1356+12insG	noncoding	Benign
1	94078586	T	TC	T94078587C	ABCA4	NM_000350.3(ABCA4):c.1356+3_1356+4insG	noncoding	Benign
1	94078601	TC	T	C94078602A	ABCA4	NM_000350.3(ABCA4):c.1344del:p.Met448fs	coding	Pathogenic
1	94078770	GT	G	T94078772G	ABCA4	NM_000350.3(ABCA4):c.1240-65del	noncoding	Benign
1	94079249	T	TCA	T94079275A	ABCA4	NM_000350.3(ABCA4):c.1239+49TG[13]	noncoding	Benign
1	94079442	CA	C	A94079444T	ABCA4	NM_000350.3(ABCA4):c.1118del:p.Ala372_Leu373insTer	coding	Pathogenic
1	94080481	T	TTCTTCTGTCATAAGAATAGATAGGATCCTTCCTTGTGGAGTCAATCCCCAGAAAGGCCTTATAGATATTG	T94080546A	ABCA4	NM_000350.3(ABCA4):c.1095_1096insCAATATCTATAAGGCCTTTCTGGGGATTGACTCCACAAGGAAGGATCCTATCTATTCTTATGACAGAAGA:p.Thr366delinsGlnTyrLeuTer	coding	Pathogenic
1	94080501	ATAGGATC	A	T94080502C	ABCA4	NM_000350.3(ABCA4):c.1069_1075del:p.Asp357fs	coding	Pathogenic
1	94098452	TGATCACCTGGCTAGGAAATAGCAGGTCAGGGAGTCAAACCAGGCCTCCTCCTTCCTTTACCACTCTGTTAGAGGAGGTAAAGGGGATTATCCCCACATTTAGAGTGGACACAAACATGCCACAGCCACATACCTAATGGTGAACCTCATAGTGACTTCTGGGTCCCTGGGCCACTGTTCTAGAAATACTATCAGTTGTGATTTTTTGAGCCCTGGGAGCCTGGAGCTTTTGCAAGGATTGTCCAGAACACCAGGCTCACGCCCTCCCCAAGGTCAATTCGTGAGGCTCTGCTACCCCAGGAATCACCTTGCAATTGGCGAGCAGCCAAACCCCTCCCTTACCACACGGAAGAGCTTGAAGAAGTCCACGTTGGCATACAGAGTGTCTTCTATCCACTGTAGGGTGCCCTGG	T	T94098455G	ABCA4	NM_000350.3(ABCA4):c.699_768+341del	noncoding	Pathogenic
1	94098809	GA	G	A94098811G	ABCA4	NM_000350.3(ABCA4):c.752del:p.Phe251fs	coding	Pathogenic
1	94098830	CAG	C	A94098833T	ABCA4	NM_000350.3(ABCA4):c.730_731del:p.Leu244fs	coding	Pathogenic
1	94098932	CA	C	A94098933G	ABCA4	NM_000350.3(ABCA4):c.629del:p.Leu210fs	coding	Pathogenic
1	94101317	GT	G	T94101318G	ABCA4	NM_000350.3(ABCA4):c.570+1697del	noncoding	Benign
1	94103382	TG	T	G94103387T	ABCA4	NM_000350.3(ABCA4):c.443-241del	noncoding	Benign
1	94108582	AT	A	T94108584C	ABCA4	NM_000350.3(ABCA4):c.436del:p.Ile146fs	coding	Pathogenic
1	94108590	CG	C	G94108593T	ABCA4	NM_000350.3(ABCA4):c.428del:p.Pro143fs	coding	Pathogenic/Likely_pathogenic
1	94108686	TTC	T	C94108688T	ABCA4	NM_000350.3(ABCA4):c.331_332del:p.Glu111fs	coding	Pathogenic
1	94108687	TC	T	C94108688T	ABCA4	NM_000350.3(ABCA4):c.331del:p.Glu111fs	coding	Pathogenic
1	94108691	G	TTTTTTTTTTTNNNNNNNNNNN	G94108691T	ABCA4	NM_000350.3(ABCA4):c.328delinsNNNNNNNNNNNAAAAAAAAAAA:p.Gln110delinsXaaXaaXaaXaaLysLysLysLys	coding	Pathogenic
1	94108786	AT	A	T94108798A	ABCA4	NM_000350.3(ABCA4):c.303-71del	noncoding	Benign
1	94111479	TG	T	G94111483T	ABCA4	NM_000350.3(ABCA4):c.260del:p.Pro87fs	coding	Pathogenic
1	94113026	AATAAAG	A	A94113033G	ABCA4	NM_000350.3(ABCA4):c.95CTTTAT[1]:p.Ser34_Leu35del	coding	Pathogenic
1	94113050	TC	T	C94113052A	ABCA4	NM_000350.3(ABCA4):c.82del:p.Glu28fs	coding	Pathogenic
1	94120998	GGTCCAG	CT	G94120998C	ABCA4	NM_000350.3(ABCA4):c.42_48delinsAG:p.Asn14fs	coding	Pathogenic
1	94201874	G	GA	T94201884A	ARHGAP29	NM_004815.4(ARHGAP29):c.1144-26dup	noncoding	Benign
1	94489820	AAT	A	A94489823G	ABCD3	NM_002858.4(ABCD3):c.1249+7_1249+8del	noncoding	Benign
1	94498859	GC	G	C94498860T	ABCD3	NM_002858.4(ABCD3):c.1530+12del	noncoding	Benign
1	97515585	A	AT	A97515586T	DPYD	NM_000110.4(DPYD):c.1740+140_1740+141insA	noncoding	Benign
1	97515643	T	TA	T97515652A	DPYD	NM_000110.4(DPYD):c.1740+75dup	noncoding	Benign
1	97516066	G	GA	C97516074A	DPYD	NM_000110.4(DPYD):c.1525-132dup	noncoding	Benign
1	97549704	A	AC	A97549709C	DPYD	NM_000110.4(DPYD):c.1379dup:p.Leu461fs	coding	Pathogenic/Likely_pathogenic
1	97740410	GATGA	G	A97740415T	DPYD	NM_000110.4(DPYD):c.299_302del:p.Phe100fs	coding	Pathogenic
1	97828171	A	AAATTATTC	T97828180A	DPYD	NM_000110.4(DPYD):c.168_175dup:p.Phe59Ter	coding	Pathogenic
1	99851077	T	TGC	A99851079C	AGL	NM_000642.3(AGL):c.36_37insCG:p.Asn13fs	coding	Pathogenic
1	99851095	TG	T	G99851097A	AGL	NM_000642.3(AGL):c.55del:p.Glu19fs	coding	Pathogenic
1	99851103	AC	A	C99851106T	AGL	NM_000642.3(AGL):c.64del:p.Leu22fs	coding	Pathogenic/Likely_pathogenic
1	99851115	CTT	C	T99851116G	AGL	NM_000642.3(AGL):c.74_75del:p.Leu25fs	coding	Pathogenic
1	99852351	CT	C	T99852372C	AGL	NM_000642.3(AGL):c.82+1248del	noncoding	Benign
1	99852351	CTT	C	T99852371C	AGL	NM_000642.3(AGL):c.82+1247_82+1248del	noncoding	Benign
1	99861594	TA	T	A99861595G	AGL	NM_000642.3(AGL):c.175del:p.Arg59fs	coding	Pathogenic
1	99861641	AAG	A	G99861643T	AGL	NM_000642.3(AGL):c.223_224del:p.Glu74_Asp75insTer	coding	Pathogenic/Likely_pathogenic
1	99862289	TG	T	G99862291A	AGL	NM_000642.3(AGL):c.328del:p.Asp110fs	coding	Pathogenic
1	99862372	TTGGG	T	T99862373A	AGL	NM_000642.3(AGL):c.410_413del:p.Leu137fs	coding	Pathogenic
1	99862379	CT	C	T99862383G	AGL	NM_000642.3(AGL):c.420del:p.Phe140fs	coding	Pathogenic
1	99864502	AC	A	C99864504T	AGL	NM_000642.3(AGL):c.579del:p.Trp194fs	coding	Pathogenic
1	99864505	TG	T	G99864507A	AGL	NM_000642.3(AGL):c.582del:p.Thr193_Trp194insTer	coding	Pathogenic
1	99870404	TA	T	A99870406T	AGL	NM_000642.3(AGL):c.671del:p.Asn224fs	coding	Pathogenic
1	99870450	G	GT	G99870452T	AGL	NM_000642.3(AGL):c.716dup:p.Asn240fs	coding	Pathogenic
1	99870558	AT	A	T99870560G	AGL	NM_000642.3(AGL):c.825del:p.Ile275fs	coding	Pathogenic
1	99870799	T	TA	C99870803A	AGL	NM_000642.3(AGL):c.891dup:p.Leu298fs	coding	Pathogenic
1	99870857	CTT	C	T99870858C	AGL	NM_000642.3(AGL):c.947_948del:p.Leu316fs	coding	Pathogenic
1	99874692	A	AG	C99874695G	AGL	NM_000642.3(AGL):c.966dup:p.Arg323fs	coding	Pathogenic
1	99874746	GA	G	A99874748T	AGL	NM_000642.3(AGL):c.1020del:p.Glu340fs	coding	Pathogenic
1	99874768	C	CT	G99874770T	AGL	NM_000642.3(AGL):c.1041dup:p.Val348fs	coding	Pathogenic
1	99875237	TTAAC	T	A99875240T	AGL	NM_000642.3(AGL):c.1169_1172del:p.Asn390fs	coding	Pathogenic/Likely_pathogenic
1	99875245	CA	C	A99875246T	AGL	NM_000642.3(AGL):c.1175del:p.His392fs	coding	Pathogenic
1	99875463	AT	A	T99875468G	AGL	NM_000642.3(AGL):c.1283+13del	noncoding	Benign
1	99875469	G	GT	C99875478T	AGL	NM_000642.3(AGL):c.1283+22dup	noncoding	Benign
1	99877719	ACTGTCCTTAT	A	G99877722C	AGL	NM_000642.3(AGL):c.1505_1514del:p.Cys502fs	coding	Pathogenic
1	99877751	TAC	T	A99877754T	AGL	NM_000642.3(AGL):c.1537_1538del:p.Tyr512_Thr513insTer	coding	Pathogenic
1	99877803	AC	A	C99877804T	AGL	NM_000642.3(AGL):c.1587del:p.Ser530fs	coding	Pathogenic
1	99877834	GA	G	A99877839C	AGL	NM_000642.3(AGL):c.1611+11del	noncoding	Benign
1	99879584	C	CAATA	G99879610A	AGL	NM_000642.3(AGL):c.1612-338AATA[7]	noncoding	Benign
1	99880724	AG	A	G99880726C	AGL	NM_000642.3(AGL):c.1830del:p.Arg610fs	coding	Pathogenic
1	99880759	T	TATGG	A99880766G	AGL	NM_000642.3(AGL):c.1866_1869dup:p.Ile624fs	coding	Pathogenic
1	99881115	G	GT	C99881119T	AGL	NM_000642.3(AGL):c.1942dup:p.Ser648fs	coding	Pathogenic
1	99881324	TA	T	A99881326G	AGL	NM_000642.3(AGL):c.2036del:p.Lys679fs	coding	Pathogenic
1	99881380	GCATTATTGCAGCCAGGTGTGCTATCAGTAAACTT	G	T99881384C	AGL	NM_000642.3(AGL):c.2094_2127del:p.Ile699fs	coding	Pathogenic
1	99884155	AT	A	T99884157G	AGL	NM_000642.3(AGL):c.2346del:p.Ile782fs	coding	Pathogenic
1	99884378	AC	A	C99884379A	AGL	NM_000642.3(AGL):c.2474del:p.Thr825fs	coding	Pathogenic
1	99884398	T	TA	T99884400A	AGL	NM_000642.3(AGL):c.2494dup:p.Ile832fs	coding	Pathogenic
1	99884424	T	TGTCTC	C99884430G	AGL	NM_000642.3(AGL):c.2520_2524dup:p.Pro842fs	coding	Pathogenic
1	99888087	CT	C	T99888089A	AGL	NM_000642.3(AGL):c.2793del:p.Lys932fs	coding	Pathogenic
1	99891218	AG	A	G99891220T	AGL	NC_000001.10:g.100356775del	noncoding	Pathogenic
1	99891593	AT	A	T99891597A	AGL	NM_000642.3(AGL):c.2950-9del	noncoding	Benign
1	99891617	GT	G	T99891619G	AGL	NM_000642.3(AGL):c.2963del:p.Leu988fs	coding	Pathogenic
1	99891649	TC	T	C99891652A	AGL	NM_000642.3(AGL):c.2996del:p.Pro999fs	coding	Pathogenic
1	99891704	C	CA	C99891706A	AGL	NM_000642.3(AGL):c.3049dup:p.Thr1017fs	coding	Pathogenic
1	99892574	GAA	G	A99892577G	AGL	NM_000642.3(AGL):c.3229_3230del:p.Lys1077fs	coding	Pathogenic
1	99892830	A	ATTCTT	C99892836T	AGL	NM_000642.3(AGL):c.3259+224_3259+228dup	noncoding	Benign
1	99896272	G	GT	G99896281T	AGL	NM_000642.3(AGL):c.3260-6dup	noncoding	Benign
1	99896272	GT	G	T99896280G	AGL	NM_000642.3(AGL):c.3260-6del	noncoding	Benign
1	99900730	GC	G	C99900731T	AGL	NM_000642.3(AGL):c.3458del:p.Ala1153fs	coding	Pathogenic
1	99900816	A	AATGTATCC	T99900825A	AGL	NM_000642.3(AGL):c.3544_3551dup:p.Thr1185fs	coding	Pathogenic
1	99900890	G	GT	C99900906T	AGL	NM_000642.3(AGL):c.3588+44dup	noncoding	Benign
1	99900890	GTT	G	T99900904C	AGL	NM_000642.3(AGL):c.3588+43_3588+44del	noncoding	Benign
1	99902719	CA	C	A99902724C	AGL	NM_000642.3(AGL):c.3630del:p.Lys1210fs	coding	Pathogenic
1	99910717	A	AATATAACT	G99910726A	AGL	NM_000642.3(AGL):c.3707_3714dup:p.Ala1239delinsIleTer	coding	Pathogenic
1	99910766	A	AT	C99910768T	AGL	NM_000642.3(AGL):c.3756dup:p.Arg1253fs	coding	Pathogenic
1	99910782	CACATG	C	A99910783G	AGL	NM_000642.3(AGL):c.3772_3776del:p.Thr1258fs	coding	Pathogenic
1	99910788	GA	AC	G99910788A	AGL	NM_000642.3(AGL):c.3777_3778delinsAC:p.Trp1259_Met1260delinsTer	coding	Pathogenic
1	99910817	C	CT	A99910819T	AGL	NM_000642.3(AGL):c.3807dup:p.Arg1270Ter	coding	Pathogenic/Likely_pathogenic
1	99913552	TG	T	G99913553A	AGL	NM_000642.3(AGL):c.3976del:p.Glu1326fs	coding	Pathogenic
1	99913675	TG	T	G99913677A	AGL	NM_000642.3(AGL):c.4100del:p.Gly1367fs	coding	Pathogenic
1	99915389	GCC	G	C99915392T	AGL	NM_000642.3(AGL):c.4165_4166del:p.Ala1388_Pro1389insTer	coding	Pathogenic/Likely_pathogenic
1	99915440	GAA	G	A99915447T	AGL	NM_000642.3(AGL):c.4220_4221del:p.Lys1407fs	coding	Pathogenic
1	99915468	T	TGAAAACTTTAGATCCAGGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAA	A99915486G	AGL	NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG:p.Asp1420fs	coding	Pathogenic
1	99915553	A	AT	G99915567T	AGL	NM_000642.3(AGL):c.4259+80dup	noncoding	Benign
1	99916668	C	CT	A99916670T	AGL	NM_000642.3(AGL):c.4419dup:p.Thr1474fs	coding	Pathogenic
1	99916693	TA	T	A99916698T	AGL	NM_000642.3(AGL):c.4448del:p.Asn1483fs	coding	Pathogenic
1	99993588	AT	A	T99993592G	SLC35A3	NM_012243.3(SLC35A3):c.38del:p.Leu13fs	coding	Pathogenic
1	99993907	C	CATTTT	A99993914T	SLC35A3	NM_012243.3(SLC35A3):c.187+168_187+172dup	noncoding	Benign
1	99999292	A	ACATGATGAAATTCTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A99999308T	SLC35A3	NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT:p.Asn79fs	coding	Pathogenic
1	100011418	TG	T	G100011419T	SLC35A3	NM_012243.3(SLC35A3):c.520del:p.Phe173_Val174insTer	coding	Pathogenic
1	100011489	TAAAAG	T	A100011493C	SLC35A3	NM_012243.3(SLC35A3):c.594_598del:p.Lys198fs	coding	Pathogenic/Likely_pathogenic
1	100015157	CAA	C	A100015176G	SLC35A3	NM_012243.3(SLC35A3):c.635-126_635-125del	noncoding	Benign
1	100015157	CA	C	A100015177G	SLC35A3	NM_012243.3(SLC35A3):c.635-125del	noncoding	Benign
1	100015157	C	CAA	G100015178A	SLC35A3	NM_012243.3(SLC35A3):c.635-126_635-125dup	noncoding	Benign
1	100015157	C	CA	G100015178A	SLC35A3	NM_012243.3(SLC35A3):c.635-125dup	noncoding	Benign
1	100015372	A	AT	C100015379T	SLC35A3	NM_012243.3(SLC35A3):c.711dup:p.Gln238fs	coding	Pathogenic
1	100022146	CAT	C	A100022147G	SLC35A3	NM_012243.3(SLC35A3):c.888-239_888-238del	noncoding	Benign
1	100022397	TT	A	T100022397A	SLC35A3	NM_012243.3(SLC35A3):c.899_900delinsA:p.Leu300fs	coding	Pathogenic
1	100102675	CA	C	A100102694G	SASS6	NM_194292.3(SASS6):c.1674+279del	noncoding	Benign
1	100102675	C	CAA	G100102695A	SASS6	NM_194292.3(SASS6):c.1674+261_1674+262dup	noncoding	Benign
1	100102675	C	CA	G100102695A	SASS6	NM_194292.3(SASS6):c.1674+261dup	noncoding	Benign
1	100118758	CAG	C	A100118761T	SASS6	NM_194292.3(SASS6):c.669+258_669+259del	noncoding	Benign
1	100122549	C	CT	G100122571T	SASS6	NM_194292.3(SASS6):c.207-86dup	noncoding	Benign
1	100122549	C	CTT	G100122571T	SASS6	NM_194292.3(SASS6):c.207-86_207-85dup	noncoding	Benign
1	100122970	G	GA	T100122979A	SASS6	NM_194292.3(SASS6):c.206+232dup	noncoding	Benign
1	100186848	C	CACACAT	G100186849A	DBT	Single_allele	noncoding	Benign
1	100186848	C	CACAT	G100186849A	DBT	Single_allele	noncoding	Benign
1	100186848	C	CAT	G100186849A	DBT	Single_allele	noncoding	Benign
1	100188573	C	CCTT	G100188579T	DBT	NM_001918.5(DBT):c.*7679_*7681dup	noncoding	Benign
1	100193598	C	CATTT	G100193624T	DBT	NM_001918.5(DBT):c.*2633AAAT[7]	noncoding	Benign/Likely_benign
1	100196367	ACATT	A	C100196372A	DBT	NM_001918.5(DBT):c.1333_1336del:p.Met444_Asn445insTer	coding	Pathogenic
1	100196431	GAAAAAAAAAA	G	A100196450G	DBT	NM_001918.5(DBT):c.1282-19_1282-10del	noncoding	Benign
1	100196431	GAAAAAAAAA	G	A100196451G	DBT	NM_001918.5(DBT):c.1282-18_1282-10del	noncoding	Benign
1	100206072	TA	T	A100206090G	DBT	NM_001918.5(DBT):c.1281+157del	noncoding	Benign
1	100206458	GA	G	A100206461G	DBT	NM_001918.5(DBT):c.1195del:p.Ser399fs	coding	Pathogenic
1	100206638	TA	T	A100206644T	DBT	NM_001918.5(DBT):c.1018-3del	noncoding	Benign
1	100206645	T	TA	T100206652A	DBT	NM_001918.5(DBT):c.1018-10dup	noncoding	Benign
1	100210748	CTG	C	G100210750A	DBT	NM_001918.5(DBT):c.961_962del:p.Gln321fs	coding	Pathogenic
1	100214836	AAGGAGAGTTT	A	G100214838A	DBT	NM_001918.5(DBT):c.910_919del:p.Lys304fs	coding	Pathogenic
1	100215037	C	CT	A100215052T	DBT	NM_001918.5(DBT):c.773-68dup	noncoding	Benign
1	100215992	GT	G	T100215994C	DBT	NM_001918.5(DBT):c.762del:p.Glu254fs	coding	Pathogenic
1	100218643	GACGGCGA	G	G100218646T	DBT	NM_001918.5(DBT):c.531_537del:p.Arg178fs	coding	Pathogenic
1	100218658	GAGTTGCC	G	T100218662G	DBT	NM_001918.5(DBT):c.516_522del:p.Ala173fs	coding	Pathogenic
1	100218932	TGG	T	G100218942T	DBT	NM_001918.5(DBT):c.434-187_434-186del	noncoding	Benign
1	100218932	TG	T	G100218943T	DBT	NM_001918.5(DBT):c.434-186del	noncoding	Benign
1	100218932	T	TG	T100218944G	DBT	NM_001918.5(DBT):c.434-196dup	noncoding	Benign
1	100230629	G	GA	C100230642A	DBT	NM_001918.5(DBT):c.433+92dup	noncoding	Benign
1	100230799	AAT	A	T100230801G	DBT	NM_001918.5(DBT):c.365_366del:p.Tyr122fs	coding	Pathogenic
1	100230801	TAG	T	A100230804T	DBT	NM_001918.5(DBT):c.363_364del:p.Tyr122fs	coding	Pathogenic
1	100235444	AAC	A	C100235446G	DBT	NM_001918.5(DBT):c.241_242del:p.Thr80_Val81insTer	coding	Pathogenic
1	100240789	A	ATGAC	A100240795G	DBT	NM_001918.5(DBT):c.143_146dup:p.His49fs	coding	Pathogenic
1	100240821	AAC	A	C100240827T	DBT	NM_001918.5(DBT):c.113_114del:p.Cys38fs	coding	Pathogenic
1	100249803	C	CA	T100249805A	DBT	NM_001918.5(DBT):c.17dup:p.Met6fs	coding	Pathogenic
1	100455497	G	GT	C100455507T	CDC14A	NM_003672.4(CDC14A):c.607+14dup	noncoding	Benign
1	100462734	AT	A	T100462737A	CDC14A	NM_003672.4(CDC14A):c.694del:p.Tyr232fs	coding	Pathogenic
1	100484627	TA	T	A100484639G	CDC14A	NM_003672.4(CDC14A):c.1137+188del	coding	Benign
1	100496223	ATT	A	T100496237G	CDC14A	NM_003672.4(CDC14A):c.1298+188_1298+189del	noncoding	Benign
1	100496311	A	AG	T100496318G	CDC14A	NM_003672.4(CDC14A):c.1298+268dup	noncoding	Benign
1	100497923	CAG	C	A100497926T	CDC14A	NM_003672.4(CDC14A):c.1299-159_1299-158del	noncoding	Benign
1	102881723	ACCAAC	A	C102881724T	COL11A1	NM_001854.4(COL11A1):c.5009_5013del:p.Ser1670fs	coding	Pathogenic
1	102888710	GA	G	A102888714G	COL11A1	NM_001854.4(COL11A1):c.4554+12del	noncoding	Benign
1	102888759	CT	C	T102888760A	COL11A1	NM_001854.4(COL11A1):c.4519-2del	coding	Pathogenic
1	102889383	C	CTG	A102889411G	COL11A1	NM_001854.4(COL11A1):c.4464+46CA[14]	noncoding	Benign
1	102889383	C	CTGTG	A102889411G	COL11A1	NM_001854.4(COL11A1):c.4464+46CA[15]	noncoding	Benign
1	102889383	C	CTGTGTGTGTG	A102889411G	COL11A1	NM_001854.4(COL11A1):c.4464+46CA[18]	noncoding	Benign
1	102889383	C	CTGTGTGTGTGTG	A102889411G	COL11A1	NM_001854.4(COL11A1):c.4464+46CA[19]	noncoding	Benign
1	102889383	C	CTGTGTGTGTGTGTG	A102889411G	COL11A1	NM_001854.4(COL11A1):c.4464+46CA[20]	noncoding	Benign
1	102890516	C	CAA	C102890527A	COL11A1	NM_001854.4(COL11A1):c.4303-14_4303-13dup	noncoding	Benign
1	102897894	A	AT	C102897901T	COL11A1	NM_001854.4(COL11A1):c.4302+225dup	noncoding	Benign
1	102898928	A	AT	A102898939T	COL11A1	NM_001854.4(COL11A1):c.4140+12dup	noncoding	Benign
1	102898928	AT	A	T102898938A	COL11A1	NM_001854.4(COL11A1):c.4140+12del	noncoding	Benign
1	102898949	CT	C	T102898954C	COL11A1	NM_001854.4(COL11A1):c.4131del:p.Gly1378fs	coding	Pathogenic
1	102912224	G	GA	T102912231A	COL11A1	NM_001854.4(COL11A1):c.4033-13dup	noncoding	Benign
1	102914272	A	AT	C102914282T	COL11A1	NM_001854.4(COL11A1):c.3978+71dup	noncoding	Benign
1	102914823	TAA	T	A102914835G	COL11A1	NM_001854.4(COL11A1):c.3817-14_3817-13del	noncoding	Benign
1	102914823	T	TAAA	G102914837A	COL11A1	NM_001854.4(COL11A1):c.3817-15_3817-13dup	noncoding	Benign
1	102915336	CTTTG	C	T102915343C	COL11A1	NM_001854.4(COL11A1):c.3816+291_3816+294del	noncoding	Benign
1	102915628	T	TA	C102915630A	COL11A1	NM_001854.4(COL11A1):c.3816+2dup	noncoding	Pathogenic
1	102915629	ACGCC	A	C102915630T	COL11A1	NM_001854.4(COL11A1):c.3814_3816+1del	noncoding	Pathogenic
1	102921572	CT	C	T102921573G	COL11A1	NM_001854.4(COL11A1):c.3655-2del	coding	Pathogenic
1	102923434	TA	T	A102923444G	COL11A1	NM_001854.4(COL11A1):c.3601-46del	noncoding	Benign
1	102934361	GA	G	A102934368T	COL11A1	NM_001854.4(COL11A1):c.3600+87del	noncoding	Benign
1	102934361	G	GA	T102934369A	COL11A1	NM_001854.4(COL11A1):c.3600+81dup	noncoding	Benign
1	102934854	ATTAC	A	A102934861T	COL11A1	NM_001854.4(COL11A1):c.3492+202_3492+205del	noncoding	Benign
1	102946571	CT	C	T102946582A	COL11A1	NM_001854.4(COL11A1):c.3276+277del	noncoding	Benign
1	102947232	ATC	A	C102947234G	COL11A1	NM_001854.4(COL11A1):c.3169-278_3169-277del	noncoding	Benign
1	102970058	T	TTA	G102970070A	COL11A1	NM_001854.4(COL11A1):c.2862+151TA[6]	noncoding	Benign
1	102970311	TTTAA	T	A102970315T	COL11A1	NM_001854.4(COL11A1):c.2809-43_2809-40del	noncoding	Benign
1	102974823	CACTT	C	T102974826A	COL11A1	NM_001854.4(COL11A1):c.2808+3_2808+6del	noncoding	Pathogenic
1	102979190	A	ATCAT	G102979213A	COL11A1	NM_001854.4(COL11A1):c.2611-106ATGA[6]	noncoding	Benign
1	102984137	C	CT	C102984138T	COL11A1	NM_001854.4(COL11A1):c.2556_2557insA:p.Gly853fs	noncoding	Pathogenic
1	102987371	C	CT	A102987384T	COL11A1	NM_001854.4(COL11A1):c.2502+250dup	noncoding	Benign
1	102995606	TA	T	A102995619G	COL11A1	NM_001854.4(COL11A1):c.2340+257del	noncoding	Benign
1	102995606	T	TA	G102995620A	COL11A1	NM_001854.4(COL11A1):c.2340+245dup	noncoding	Benign
1	102998311	G	GGA	G102998315A	COL11A1	NM_001854.4(COL11A1):c.2193_2194dup:p.Pro732fs	coding	Pathogenic
1	102998349	T	TA	T102998350A	COL11A1	NM_001854.4(COL11A1):c.2156_2157insT:p.Lys719fs	coding	Pathogenic
1	102998372	GA	G	A102998382T	COL11A1	NM_001854.4(COL11A1):c.2143-10del	noncoding	Benign
1	103001972	A	AT	A103001977T	COL11A1	NM_001854.4(COL11A1):c.2098-4dup	noncoding	Benign
1	103003299	TAA	T	A103003310T	COL11A1	NM_001854.4(COL11A1):c.1945-33_1945-32del	noncoding	Benign
1	103004915	ATAAG	A	A103004918T	COL11A1	NM_001854.4(COL11A1):c.1846-258_1846-255del	noncoding	Benign
1	103006178	A	AAAATAAAT	A103006210T	COL11A1	NM_001854.4(COL11A1):c.1737+56ATTT[9]	noncoding	Benign
1	103006178	A	AAAATAAATAAAT	A103006210T	COL11A1	NM_001854.4(COL11A1):c.1737+56ATTT[10]	noncoding	Benign
1	103006178	A	AAAATAAATAAATAAAT	A103006210T	COL11A1	NM_001854.4(COL11A1):c.1737+56ATTT[11]	noncoding	Benign
1	103006178	AAAATAAAT	A	T103006202A	COL11A1	NM_001854.4(COL11A1):c.1737+56ATTT[5]	noncoding	Benign
1	103012269	A	AT	A103012277T	COL11A1	NM_001854.4(COL11A1):c.1629+137dup	noncoding	Benign
1	103023046	TAA	T	A103023048G	COL11A1	NM_001854.4(COL11A1):c.991-52_991-51del	noncoding	Benign
1	103026622	AAC	A	C103026626G	COL11A1	NM_001854.4(COL11A1):c.781-292_781-291del	noncoding	Benign
1	103031249	G	GAAA	C103031263A	COL11A1	NM_001854.4(COL11A1):c.652-18_652-16dup	noncoding	Benign
1	103031249	G	GGAA	A103031250G	COL11A1	NM_001854.4(COL11A1):c.652-6_652-5insTTC	noncoding	Benign/Likely_benign
1	103078614	AT	A	T103078615G	COL11A1	NM_001854.4(COL11A1):c.488+43del	noncoding	Benign
1	103078887	CA	C	A103078890G	COL11A1	NM_001854.4(COL11A1):c.275-17del	noncoding	Benign/Likely_benign
1	103083248	C	CTGTG	C103083267T	COL11A1	NM_001854.4(COL11A1):c.107-294CA[11]	noncoding	Benign
1	103083248	C	CTGTGTG	C103083267T	COL11A1	NM_001854.4(COL11A1):c.107-294CA[12]	noncoding	Benign
1	103083265	TGC	T	C103083267T	COL11A1	NM_001854.4(COL11A1):c.107-295_107-294del	noncoding	Benign
1	103107961	C	CT	C103107976T	COL11A1	NM_001854.4(COL11A1):c.106+98dup	noncoding	Benign
1	103107961	C	CTT	C103107976T	COL11A1	NM_001854.4(COL11A1):c.106+98_106+99dup	noncoding	Benign
1	103533757	C	CA	C103533760A	RNPC3	NM_017619.4(RNPC3):c.261dup:p.Leu88fs	coding	Pathogenic
1	103550998	TC	T	C103551000T	RNPC3	NM_017619.4(RNPC3):c.1421del:p.Pro474fs	coding	Pathogenic
1	108200282	CGCGCAGG	C	G108200297A	SLC25A24	NM_013386.5(SLC25A24):c.-165CCTGCGC[2]	noncoding	Benign
1	108885722	G	GT	A108885724T	GPSM2	NM_013296.5(GPSM2):c.56+145dup	noncoding	Benign
1	108923940	TTTTTTTG	T	G108923961T	GPSM2	NM_013296.5(GPSM2):c.1601-59TTTTTTG[2]	noncoding	Benign
1	108943618	TA	T	A108943622C	CLCC1	NM_001377458.1(CLCC1):c.562-4del	noncoding	Benign
1	108944073	C	CA	C108944080A	CLCC1	NM_001377458.1(CLCC1):c.340-17dup	noncoding	Benign
1	108949807	TA	T	A108949814C	CLCC1	NM_001377458.1(CLCC1):c.231+12del	noncoding	Benign
1	109267578	GG	AA	G109267578A	CELSR2	NM_001408.3(CELSR2):c.6044_6045delinsAA:p.Arg2015Lys	coding	Benign
1	109270614	TTCCCAGTCTTGGGG	T	G109270620C	CELSR2	NM_001408.3(CELSR2):c.7483+20_7483+33del	noncoding	Benign
1	109296441	A	AT	G109296457T	MYBPHL	NM_001010985.3(MYBPHL):c.731-86dup	noncoding	Benign
1	109296441	AT	A	T109296456G	MYBPHL	NM_001010985.3(MYBPHL):c.731-72del	noncoding	Benign
1	109603982	G	GCTGA	A109603983C	GNAT2	NM_001377295.2(GNAT2):c.842_843insTCAG:p.His282fs	coding	Pathogenic
1	109603998	TC	T	C109604000T	GNAT2	NM_001377295.2(GNAT2):c.826del:p.Glu276fs	coding	Pathogenic
1	109606306	AC	A	C109606308T	GNAT2	NM_001377295.2(GNAT2):c.590+1del	noncoding	Pathogenic
1	109612865	TC	T	C109612868A	GNAT2	NM_001377295.2(GNAT2):c.5del:p.Gly2fs	coding	Pathogenic
1	109625770	CG	C	G109625772C	AMPD2	NM_001368809.2(AMPD2):c.333del:p.Gln112fs	coding	Pathogenic
1	109627263	GC	G	C109627264G	AMPD2	NM_001368809.2(AMPD2):c.808del:p.Arg270fs	coding	Pathogenic
1	109628544	GC	G	C109628545T	AMPD2	NM_001368809.2(AMPD2):c.1407+50del	noncoding	Benign
1	109629724	T	TG	T109629730G	AMPD2	NM_001368809.2(AMPD2):c.1863-67dup	noncoding	Benign
1	110060664	A	AGGTGCTTCCTCCGTGGTGTCCAGGCAGG	G110060669C	ALX3	NM_006492.3(ALX3):c.*68_*69insCCTGCCTGGACACCACGGAGGAAGCACC	noncoding	Benign
1	110601777	A	AAT	G110601796A	KCNA2	NM_004974.4(KCNA2):c.*1488AT[10]	noncoding	Benign
1	110601794	A	ATG	A110601830G	KCNA2	NM_004974.4(KCNA2):c.*1455CA[18]	noncoding	Benign
1	110601794	ATG	A	G110601828A	KCNA2	NM_004974.4(KCNA2):c.*1455CA[16]	noncoding	Benign
1	110601794	ATGTG	A	G110601826A	KCNA2	NM_004974.4(KCNA2):c.*1455CA[15]	noncoding	Benign
1	110601828	G	GTGTGTGTA	A110601830G	KCNA2	NM_004974.4(KCNA2):c.*1454_*1455insTACACACA	noncoding	Benign
1	110602237	AT	A	T110602245C	KCNA2	NM_004974.4(KCNA2):c.*1045del	noncoding	Benign
1	110604009	AATGATGTTC	A	C110604018G	KCNA2	NM_004974.4(KCNA2):c.765_773del:p.Met255_Ile257del	coding	Pathogenic
1	110952011	C	CCATT	T110952016C	LRIF1	NM_018372.4(LRIF1):c.869_872dup:p.Trp291Ter	coding	Pathogenic
1	111118790	AT	GC	A111118790G	DRAM2	NM_001349884.2(DRAM2):c.693+14_693+15delinsGC	noncoding	Benign
1	111131462	T	TA	C111131464A	DRAM2	NM_001349884.2(DRAM2):c.92dup:p.Thr32fs	coding	Pathogenic
1	111131474	G	GT	A111131476T	DRAM2	NM_001349884.2(DRAM2):c.80dup:p.Tyr27Ter	coding	Pathogenic
1	111695209	A	ATAATAT	T111695212A	RAP1A	NM_002884.4(RAP1A):c.58-130_58-129insATATTA	noncoding	Benign
1	111697416	C	CT	G111697431T	RAP1A	NM_002884.4(RAP1A):c.127-11dup	noncoding	Benign
1	111704148	A	AT	G111704165T	RAP1A	NM_002884.4(RAP1A):c.325-179dup	noncoding	Benign
1	111704148	AT	A	T111704164G	RAP1A	NM_002884.4(RAP1A):c.325-179del	noncoding	Benign
1	111709489	T	TG	T111709491G	RAP1A	NM_002884.4(RAP1A):c.*29+226dup	noncoding	Benign
1	111780319	T	TA	G111780327A	KCND3	NM_001378969.1(KCND3):c.1372-6dup	noncoding	Benign/Likely_benign
1	112918054	CAATAAATAAATAAATAAATAAATA	C	A112918080T	SLC16A1	NM_003051.4(SLC16A1):c.362-58TATT[6]	noncoding	Benign
1	112918054	CAATAAATAAATAAATA	C	A112918088T	SLC16A1	NM_003051.4(SLC16A1):c.362-58TATT[8]	noncoding	Benign
1	112918054	CAATAAATA	C	A112918096T	SLC16A1	NM_003051.4(SLC16A1):c.362-58TATT[10]	noncoding	Benign
1	112918054	CAATA	C	A112918100T	SLC16A1	NM_003051.4(SLC16A1):c.362-58TATT[11]	noncoding	Benign/Likely_benign
1	112929007	C	CT	A112929022T	SLC16A1	NM_003051.4(SLC16A1):c.217+71dup	noncoding	Benign
1	113073422	CT	C	T113073423A	LRIG2	NM_014813.3(LRIG2):c.17del:p.Leu6fs	coding	Pathogenic
1	113896450	T	TA	G113896453A	AP4B1	NM_001253852.3(AP4B1):c.1317dup:p.Ile440fs	coding	Pathogenic
1	113898733	CTT	C	T113898734G	AP4B1	NM_001253852.3(AP4B1):c.1181_1182del:p.Gln394fs	coding	Pathogenic
1	113899733	C	CA	C113899743A	AP4B1	NM_001253852.3(AP4B1):c.1114+162dup	noncoding	Benign
1	113900050	GA	G	A113900051G	AP4B1	NM_001253852.3(AP4B1):c.967del:p.Ser323fs	coding	Pathogenic
1	113900091	AC	A	C113900093T	AP4B1	NM_001253852.3(AP4B1):c.926del:p.Gly309fs	coding	Pathogenic
1	113901365	T	TATA	C113901366A	AP4B1	NM_001253852.3(AP4B1):c.487_488insTAT:p.Glu163delinsValTer	coding	Pathogenic/Likely_pathogenic
1	113901779	TA	T	A113901780T	AP4B1	NM_001253852.3(AP4B1):c.444del:p.His148fs	coding	Pathogenic
1	113901780	AT	G	A113901780G	AP4B1	NM_001253852.3(AP4B1):c.443_444delinsC:p.His148fs	coding	Pathogenic
1	113902614	CCAGA	C	C113902619G	AP4B1	NM_001253852.3(AP4B1):c.338+20_338+23del	noncoding	Benign
1	113907234	T	TTA	A113907235T	DCLRE1B	NM_022836.4(DCLRE1B):c.355+73_355+74insTA	noncoding	Benign
1	114695395	CA	C	A114695410C	AMPD1	NM_000036.3(AMPD1):c.22+54del	noncoding	Benign
1	114695395	C	CA	C114695411A	AMPD1	NM_000036.3(AMPD1):c.22+40dup	noncoding	Benign
1	114695931	A	ACACACACGCACACG	T114695955A	AMPD1	Single_allele	noncoding	Benign
1	114708672	GAAA	G	A114708678T	NRAS	NM_002524.5(NRAS):c.451-21_451-19del	noncoding	Benign/Likely_benign
1	114741589	A	AT	A114741591T	CSDE1	NM_001007553.3(CSDE1):c.1-1700dup	coding	Pathogenic
1	115033466	AGT	A	T115033470C	TSHB	NM_000549.5(TSHB):c.108_109del:p.Ala37fs	coding	Pathogenic
1	115286114	CCG	T	C115286114T	NGF	NM_002506.3(NGF):c.680_682delinsA:p.Thr227fs	coding	Pathogenic
1	115651261	T	TC	T115651267C	VANGL1	NM_138959.3(VANGL1):c.-137-11dup	noncoding	Benign
1	115682387	TC	T	C115682389T	VANGL1	NM_138959.3(VANGL1):c.838del:p.Val279_Leu280insTer	coding	Pathogenic
1	115725557	G	GA	G115725581A	CASQ2	NM_001232.4(CASQ2):c.738-27dup	noncoding	Benign
1	115726998	TG	CA	T115726998C	CASQ2	NM_001232.4(CASQ2):c.730_731inv:p.His244Cys	coding	Benign/Likely_benign
1	115732960	CA	C	A115732964G	CASQ2	NM_001232.4(CASQ2):c.546del:p.Phe182fs	coding	Pathogenic/Likely_pathogenic
1	115744885	C	CT	A115744889T	CASQ2	NM_001232.4(CASQ2):c.261dup:p.Ala88fs	coding	Pathogenic
1	115768344	CGT	TGC	C115768344T	CASQ2	NM_001232.4(CASQ2):c.196_198delinsGCA:p.Thr66Ala	coding	Benign
1	115768855	CCT	C	C115768858G	CASQ2	Single_allele	noncoding	Benign
1	116374023	CT	C	T116374024C	ATP1A1	NM_000701.8(ATP1A1):c.12+501del	coding	Benign
1	116389027	AT	A	T116389032G	ATP1A1	NM_000701.8(ATP1A1):c.754+13del	noncoding	Benign
1	116389716	C	CA	G116389718A	ATP1A1	NM_000701.8(ATP1A1):c.1023+10dup	noncoding	Benign
1	116390536	G	GT	A116390551T	ATP1A1	NM_000701.8(ATP1A1):c.1222+139dup	noncoding	Benign
1	116390536	G	GTTT	A116390551T	ATP1A1	NM_000701.8(ATP1A1):c.1222+137_1222+139dup	noncoding	Benign
1	116390536	GT	G	T116390550A	ATP1A1	NM_000701.8(ATP1A1):c.1222+139del	noncoding	Benign
1	116397859	C	CT	G116397875T	ATP1A1	NM_000701.8(ATP1A1):c.1974-14dup	noncoding	Benign
1	116397859	CT	C	T116397874G	ATP1A1	NM_000701.8(ATP1A1):c.1974-14del	noncoding	Benign
1	118884605	GAAA	G	A118884623C	TBX15	NM_001330677.2(TBX15):c.*124_*126del	noncoding	Benign
1	118884605	GA	G	A118884625C	TBX15	NM_001330677.2(TBX15):c.*126del	noncoding	Benign
1	118884605	G	GAA	C118884626A	TBX15	NM_001330677.2(TBX15):c.*125_*126dup	noncoding	Benign
1	118884605	G	GA	C118884626A	TBX15	NM_001330677.2(TBX15):c.*126dup	noncoding	Benign
1	118885190	GT	G	T118885191A	TBX15	NM_001330677.2(TBX15):c.1350del:p.Pro451fs	coding	Pathogenic
1	118885192	AT	A	T118885194C	TBX15	NM_001330677.2(TBX15):c.1348del:p.Ile450fs	coding	Pathogenic
1	118885713	T	TCACA	T118885735A	TBX15	NM_001330677.2(TBX15):c.1025-217TG[12]	noncoding	Benign
1	118885713	T	TCA	T118885735A	TBX15	NM_001330677.2(TBX15):c.1025-217TG[11]	noncoding	Benign
1	119415482	G	GT	G119415485T	HSD3B2	NM_000198.4(HSD3B2):c.65dup:p.Leu22fs	coding	Pathogenic
1	119421840	AG	A	G119421841C	HSD3B2	NM_000198.4(HSD3B2):c.340del:p.Ala114fs	coding	Pathogenic
1	119422003	GC	G	C119422004T	HSD3B2	NM_000198.4(HSD3B2):c.503del:p.Ala168fs	coding	Pathogenic
1	119422206	CT	C	T119422208G	HSD3B2	NM_000198.4(HSD3B2):c.707del:p.Ala235_Leu236insTer	coding	Pathogenic
1	119422290	CTATGA	C	T119422293A	HSD3B2	NM_000198.4(HSD3B2):c.792_796del:p.Tyr264_Asn266delinsTer	coding	Pathogenic
1	119422328	GC	G	C119422330T	HSD3B2	NM_000198.4(HSD3B2):c.829del:p.Leu277fs	coding	Pathogenic
1	119422391	TG	T	G119422393A	HSD3B2	NM_000198.4(HSD3B2):c.892del:p.Glu298fs	coding	Pathogenic
1	119712139	GG	CT	G119712139C	PHGDH	NM_006623.4(PHGDH):c.117_118delinsCT:p.Glu39_Glu40delinsAspTer	coding	Pathogenic
1	119721200	AC	A	C119721202A	PHGDH	NM_006623.4(PHGDH):c.171del:p.Lys58fs	coding	Pathogenic
1	119721297	CAAGG	C	A119721302G	PHGDH	NM_006623.4(PHGDH):c.271_274del:p.Lys91fs	coding	Pathogenic
1	119726855	AT	A	T119726857C	PHGDH	NM_006623.4(PHGDH):c.363del:p.Gln123fs	coding	Pathogenic
1	119737221	TG	T	G119737222T	PHGDH	NM_006623.4(PHGDH):c.901del:p.Val301fs	coding	Pathogenic/Likely_pathogenic
1	119737238	TG	T	G119737240T	PHGDH	NM_006623.4(PHGDH):c.919del:p.Met306_Val307insTer	coding	Pathogenic
1	119741873	GC	G	C119741874T	PHGDH	NM_006623.4(PHGDH):c.1186del:p.Leu396fs	coding	Pathogenic
1	119742816	T	TC	A119742820C	PHGDH	NM_006623.4(PHGDH):c.1222dup:p.His408fs	coding	Pathogenic
1	119742822	A	AGCCCT	T119742830C	PHGDH	NM_006623.4(PHGDH):c.1228_1232dup:p.Ala412fs	coding	Pathogenic
1	119752574	GT	G	T119752576C	HMGCS2	NM_005518.4(HMGCS2):c.1394del:p.Asn465fs	coding	Pathogenic
1	119753410	A	AAC	T119753448C	HMGCS2	NM_005518.4(HMGCS2):c.1188-60GT[19]	noncoding	Benign
1	119753410	AAC	A	C119753446T	HMGCS2	NM_005518.4(HMGCS2):c.1188-60GT[17]	noncoding	Benign
1	119753410	AACAC	A	C119753444T	HMGCS2	NM_005518.4(HMGCS2):c.1188-60GT[16]	noncoding	Benign
1	119753410	AACACAC	A	C119753442T	HMGCS2	NM_005518.4(HMGCS2):c.1188-60GT[15]	noncoding	Benign
1	119755886	AGT	A	G119755897A	HMGCS2	NM_005518.4(HMGCS2):c.1017-301AC[5]	noncoding	Benign
1	119755895	GTGTA	G	G119755897A	HMGCS2	NM_005518.4(HMGCS2):c.1017-302_1017-299del	noncoding	Benign
1	119756967	A	ACTCTCTTTCTCCCTTC	T119756999C	HMGCS2	NM_005518.4(HMGCS2):c.1016+290_1016+305dup	noncoding	Benign
1	119759179	CA	C	A119759181G	HMGCS2	NM_005518.4(HMGCS2):c.788del:p.Leu263fs	coding	Pathogenic
1	119768772	G	GT	G119768774T	HMGCS2	NM_005518.4(HMGCS2):c.72dup:p.Pro25fs	coding	Pathogenic
1	119768805	G	GT	G119768808T	HMGCS2	NM_005518.4(HMGCS2):c.39dup:p.Leu14fs	coding	Pathogenic
1	119915889	G	GT	G119915891T	NOTCH2	NM_024408.4(NOTCH2):c.6832dup:p.Thr2278fs	coding	Pathogenic
1	119916335	AC	A	C119916336T	NOTCH2	NM_024408.4(NOTCH2):c.6386del:p.Ser2129fs	coding	Pathogenic
1	119919625	G	GA	T119919630A	NOTCH2	NM_024408.4(NOTCH2):c.5480-13dup	noncoding	Benign
1	119920285	G	GT	G119920287T	NOTCH2	NM_024408.4(NOTCH2):c.5422dup:p.Thr1808fs	coding	Pathogenic
1	119922317	AGCCAGAGAG	TCT	A119922317T	NOTCH2	NM_024408.4(NOTCH2):c.5123_5132delinsAGA:p.Ser1708_Leu1711delinsTer	coding	Pathogenic
1	119937388	AG	A	G119937393C	NOTCH2	NM_024408.4(NOTCH2):c.3415del:p.Leu1139fs	coding	Pathogenic
1	119953313	C	CAA	T119953328A	NOTCH2	NM_024408.4(NOTCH2):c.2365+216_2365+217dup	noncoding	Benign
1	119953313	C	CA	T119953328A	NOTCH2	NM_024408.4(NOTCH2):c.2365+216dup	noncoding	Benign
1	119953671	TCA	T	C119953674G	NOTCH2	NM_024408.4(NOTCH2):c.2235_2236del:p.Cys745_Asp746delinsTer	coding	Pathogenic
1	119968244	T	TG	C119968249G	NOTCH2	NM_024408.4(NOTCH2):c.1109-13dup	noncoding	Benign
1	146018264	AC	A	C146018265A	HJV	NM_213653.4(HJV):c.1093del:p.Val365fs	coding	Pathogenic
1	146018372	CGA	C	A146018378T	HJV	NM_213653.4(HJV):c.984_985del:p.Arg329fs	coding	Pathogenic
1	146018438	GC	G	C146018440A	HJV	NM_213653.4(HJV):c.919del:p.Ala307fs	coding	Pathogenic
1	146018459	AC	A	C146018461T	HJV	NM_213653.4(HJV):c.898del:p.Lys299_Val300insTer	coding	Pathogenic
1	146018472	AG	A	G146018474A	HJV	NM_213653.4(HJV):c.885del:p.Phe296fs	coding	Pathogenic
1	146018654	AC	A	C146018656T	HJV	NM_213653.4(HJV):c.703del:p.Val235fs	coding	Pathogenic
1	146019279	AT	A	T146019280G	HJV	NM_213653.4(HJV):c.552del:p.Cys185fs	coding	Pathogenic
1	146019316	GT	G	T146019317C	HJV	NM_213653.4(HJV):c.515del:p.Asp172fs	coding	Pathogenic
1	146019386	TC	T	C146019387A	HJV	NM_213653.4(HJV):c.445del:p.Asp149fs	coding	Pathogenic/Likely_pathogenic
1	146019395	TC	T	C146019397G	HJV	NM_213653.4(HJV):c.436del:p.Asp146fs	coding	Pathogenic
1	146019396	CCGGGGCAGGGAGGCCGGAGCCCG	C	G146019399C	HJV	NM_213653.4(HJV):c.413_435del:p.Ala138fs	coding	Pathogenic
1	146019460	AG	A	G146019463C	HJV	NM_213653.4(HJV):c.371del:p.Pro124fs	coding	Pathogenic
1	146020172	T	TA	G146020174A	HJV	NM_213653.4(HJV):c.59dup:p.Ser21fs	coding	Pathogenic/Likely_pathogenic
1	146020224	T	TC	A146020230C	HJV	NM_213653.4(HJV):c.7dup:p.Glu3fs	coding	Pathogenic
1	147256507	T	TA	C147256510A	CHD1L	NM_004284.6(CHD1L):c.463-22dup	noncoding	Benign
1	147275794	A	AAAG	A147275800G	CHD1L	NM_004284.6(CHD1L):c.1386-307_1386-305dup	noncoding	Benign
1	147275795	A	AAG	A147275799G	CHD1L	NM_004284.6(CHD1L):c.1386-307_1386-306dup	noncoding	Benign
1	147275796	A	AG	A147275798G	CHD1L	NM_004284.6(CHD1L):c.1386-307dup	noncoding	Benign
1	147276340	TCAC	T	A147276342C	CHD1L	NM_004284.6(CHD1L):c.1539+85_1539+87del	noncoding	Benign
1	147284548	TA	T	A147284552C	CHD1L	NM_004284.6(CHD1L):c.1854+53del	noncoding	Benign
1	147294385	C	CAT	G147294388A	CHD1L	NM_004284.6(CHD1L):c.2507-23_2507-22dup	noncoding	Benign
1	147909270	GA	G	A147909283C	GJA8	Single_allele	noncoding	Benign
1	148968850	AC	A	C148968851T	PDE4DIP	NM_001395426.1(PDE4DIP):c.1999del:p.Leu667fs	coding	Pathogenic
1	149925735	TCTGAAA	T	A149925739T	SF3B4	NM_005850.5(SF3B4):c.913+95_913+100del	noncoding	Benign
1	149925967	ATGGCTGGGGGTATCCCAGG	A	C149925971G	SF3B4	NM_005850.5(SF3B4):c.763_781del:p.Pro255fs	coding	Pathogenic
1	149927196	GC	G	C149927197A	SF3B4	NM_005850.5(SF3B4):c.132del:p.Met44fs	coding	Pathogenic
1	150072157	A	AT	C150072162T	VPS45	NM_007259.5(VPS45):c.229-5dup	noncoding	Benign
1	150077087	CA	C	A150077092G	VPS45	NM_007259.5(VPS45):c.439-2del	noncoding	Benign
1	150077331	TG	T	G150077332A	VPS45	NM_007259.5(VPS45):c.576+101del	noncoding	Benign
1	150324880	C	CTTT	A150324893T	PRPF3	NM_004698.4(PRPF3):c.-48-5_-48-3dup	noncoding	Benign
1	150343283	G	GGTATACTAATATCTCTGCCTGACAGTTGACA	A150343315G	PRPF3	NM_004698.4(PRPF3):c.1283-25_1288dup	noncoding	Benign
1	150344763	CT	C	T150344774A	PRPF3	NM_004698.4(PRPF3):c.1640+227del	noncoding	Benign
1	150346497	T	TG	T150346503G	PRPF3	NM_004698.4(PRPF3):c.1843+11dup	noncoding	Benign
1	150487216	GA	G	A150487218T	TARS2	Single_allele	noncoding	Benign
1	150487651	T	TCTAA	A150487656C	TARS2	NM_025150.5(TARS2):c.66+136_66+139dup	noncoding	Benign
1	150489285	AC	A	C150489286A	TARS2	NM_025150.5(TARS2):c.387+199del	noncoding	Benign
1	150491054	CA	C	A150491064C	TARS2	NM_025150.5(TARS2):c.513-330del	noncoding	Benign
1	150491054	C	CAA	C150491065A	TARS2	NM_025150.5(TARS2):c.513-331_513-330dup	noncoding	Benign
1	150491061	AAAAC	A	C150491065A	TARS2	NM_025150.5(TARS2):c.513-329_513-326del	noncoding	Benign
1	150491380	TCTC	T	C150491384T	TARS2	NM_025150.5(TARS2):c.513-10_513-8del	noncoding	Benign/Likely_benign
1	150499372	A	AT	G150499384T	TARS2	NM_025150.5(TARS2):c.1617+90dup	noncoding	Benign
1	150499459	G	GT	C150499462T	TARS2	NM_025150.5(TARS2):c.1617+168dup	noncoding	Benign
1	150504609	A	AC	T150504618C	TARS2	NM_025150.5(TARS2):c.1719-15dup	noncoding	Benign
1	150504617	CT	C	T150504622C	TARS2	NM_025150.5(TARS2):c.1719-10del	noncoding	Benign
1	150509926	GC	G	C150509931T	ECM1	NM_004425.4(ECM1):c.233del:p.Pro78fs	coding	Pathogenic
1	150511532	CA	C	A150511533G	ECM1	NM_004425.4(ECM1):c.785del:p.Gln262fs	coding	Pathogenic
1	150511919	ACC	A	C150511925T	ECM1	NM_004425.4(ECM1):c.1083+94_1083+95del	noncoding	Benign
1	150512475	C	CCCTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTT	A150512478T	ECM1	NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC:p.Asn404Ter	coding	Pathogenic
1	150512553	CAA	C	A150512555G	ECM1	NM_004425.4(ECM1):c.1287_1288del:p.Arg430fs	coding	Pathogenic
1	150512577	G	GTC	T150512579C	ECM1	NM_004425.4(ECM1):c.1304+6_1304+7insCT	noncoding	Benign
1	150512605	TTTCCCGAAAACTTCCTTTTGGGACACCTTTGGGAAAAGCAAAATCATGATATCCCAACCCCATCTGATGCCAGAAGATGCCCAAAGACCCTAACCCCTGCCCCTTTCACACCAACATAGTAAACATATTCCTGGGCTGATCCACAACATGACTGCCCGCTGCTGTGACCTGCCATTTCCAGAACAGGCCTGCTGTGCAGAGGAGGAGGTGAGTGTGTGGAGTCTAGTCTCCAGAGGAATGCAGGGGAGGGGAGGGAAAGAGCTAGAACTGCAGGCCACCCCTTCTCTTTAGTACCTCAAACCAGCCTTTGGTTATAATGACTAGTGGGGGAGGTGTTTTTTTCTTGGTTCCAGAAAAGTCTTCACTCTGACCTGGCCTGCTCCCCATCTCTAAGTTCCTATTATGCCTTCTCCGGGCCACAAGCTTCTGGCATTTCCAGATGTACACATTTGTCAGTCACAAGGAATCCAGCTGTGCAAGGCAGTCTTGTACTCTCTCTGGGCCCCAGGAGGGGAACGAGGGAGAGAGCAGTAGAAGCTGATGAAAGGGGGACTTTGGCACCCAAGTATCTACATCTGTCCTTGGACCACCTCCCCACCCCATCATCTGTTTTACTTTTCTCATTCATCAGAAATTAACCTTCATCAATGATCTGTGTGGTCCCCGACGTAACATCTGGCGAGACCCTGCCCTCTGCTGTTACCTGAGTCCTGGGGATGAACAGGTCAACTGCTTCAACATCAATTATCTGAGGAACGTGGCTCTAGTGTCTGGAGACACTGAGAACGCCAAGGGCCAGGGGGAGCAGGGCTCAACTGGAGGAACAAATATCAGCTCCACCTCTGAGCCCAAGGAAGAATGAGTCACCCCAGAGCCCTAGAGGGTCAGATGGGGGGAACCCCACCCTGCCCCACCCATCTGAACACTCATTACACTAAACACCTCTTGGATTTGGTGTCCTCATTGTCTATCTAATGTCTCACCCGCAGTGTTTTAAGTGGATCTTGGTGCCCTGGCCCAGGAGGGCACTGGCGTTTTCAGACACACCACAGACAAACACACCCTCCTAAGCCTGCTTGTATTTCCTTCAGTGCCTGGCCCCTGAGGCCCACGGCCCTGCCCCCTTCACTGAGCAGATGTTCACAGGCTGTGGGATGCGACCA	T	T150512607A	ECM1	NM_004425.4(ECM1):c.1304+35_*302del	noncoding	Pathogenic
1	150551891	CA	C	A150551906G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.-84-299del	noncoding	Benign
1	150551891	C	CA	G150551907A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.-84-299dup	noncoding	Benign
1	150552999	CG	C	G150553003T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.184del:p.Val62fs	coding	Pathogenic
1	150553864	T	TC	A150553869C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.877dup:p.Gln293fs	coding	Pathogenic
1	150553947	C	CG	A150553955G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.963dup:p.Thr322fs	coding	Pathogenic
1	150553954	G	GT	A150553955T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.963_964insT:p.Thr322fs	coding	Pathogenic
1	150554375	CT	C	T150554376G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1143del:p.Glu382fs	coding	Pathogenic
1	150555614	G	GACAC	T150555620C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+50AC[4]	noncoding	Benign
1	150555642	T	TACACAC	T150555650C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+78AC[6]	noncoding	Benign
1	150555642	T	TACAC	T150555650C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+78AC[5]	noncoding	Benign
1	150555699	GCA	G	C150555702G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+137_1371+138del	noncoding	Benign
1	150555719	GCA	G	A150555731G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+155CA[5]	noncoding	Benign
1	150555733	GCA	G	A150555741G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1371+169CA[3]	noncoding	Benign
1	150556221	TG	T	G150556226T	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1436del:p.Gly479fs	coding	Pathogenic
1	150556272	A	AGG	C150556278G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1486_1487dup:p.Pro497fs	coding	Pathogenic
1	150556339	CAGCTCCGGCCT	C	G150556346A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1556_1566del:p.Arg519fs	coding	Pathogenic
1	150556846	T	TAA	G150556847A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1749+53_1749+54insAA	noncoding	Benign
1	150557062	A	AC	T150557067C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1861+16dup	noncoding	Benign
1	150557306	ACT	A	C150557309G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2021_2022del:p.Ser674fs	coding	Pathogenic/Likely_pathogenic
1	150557789	GGCT	G	C150557791A	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2178-154_2178-152del	noncoding	Benign
1	150557794	AGCC	A	G150557795C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2178-150_2178-148del	noncoding	Benign
1	150558947	TCTC	T	T150558955G	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2560-14CTC[2]	noncoding	Benign
1	150799227	TG	CA	T150799227C	CTSK	NM_000396.4(CTSK):c.830_831inv:p.Ala277Val	coding	Benign
1	150799674	TG	T	G150799675C	CTSK	NM_000396.4(CTSK):c.653del:p.Ala218fs	coding	Pathogenic
1	150804029	CA	C	A150804030T	CTSK	NM_000396.4(CTSK):c.609del:p.Pro202_Tyr203insTer	coding	Pathogenic
1	150804145	TG	T	G150804149A	CTSK	NM_000396.4(CTSK):c.493del:p.Gln165fs	coding	Pathogenic
1	150804180	CT	C	T150804182G	CTSK	NM_000396.4(CTSK):c.458del:p.Lys153fs	coding	Pathogenic
1	150804206	CAG	C	A150804209C	CTSK	NM_000396.4(CTSK):c.431_432del:p.Ser144fs	coding	Pathogenic
1	150804209	AG	A	G150804210C	CTSK	NM_000396.4(CTSK):c.429del:p.Ser144fs	coding	Pathogenic
1	150804236	GA	G	A150804237C	CTSK	NM_000396.4(CTSK):c.402del:p.Gln135fs	coding	Pathogenic
1	150805881	CAT	C	A150805884C	CTSK	NM_000396.4(CTSK):c.377_378del:p.Tyr126fs	coding	Pathogenic
1	150806144	ACCAAGAGAAGC	A	C150806146T	CTSK	NM_000396.4(CTSK):c.190_200del:p.Ala64fs	coding	Pathogenic
1	150806186	GT	G	T150806193C	CTSK	NM_000396.4(CTSK):c.158del:p.Asn53fs	coding	Pathogenic
1	150806722	T	TA	G150806724A	CTSK	NM_000396.4(CTSK):c.83dup:p.Trp29fs	coding	Pathogenic
1	150807074	TCTCTCTCA	T	T150807076A	CTSK	NM_000396.4(CTSK):c.-1-276_-1-269del	noncoding	Benign
1	150807078	TCTCACACA	T	T150807080A	CTSK	NM_000396.4(CTSK):c.-1-280_-1-273del	noncoding	Benign
1	150807078	TCTCACA	T	T150807080A	CTSK	NM_000396.4(CTSK):c.-1-278_-1-273del	noncoding	Benign
1	150807078	TCTCA	T	T150807080A	CTSK	NM_000396.4(CTSK):c.-1-276_-1-273del	noncoding	Benign
1	150807080	TCACACACACACA	T	A150807114G	CTSK	NM_000396.4(CTSK):c.-1-318TG[16]	noncoding	Benign
1	150945146	G	GT	G150945148T	SETDB1	NM_001366418.1(SETDB1):c.1140+39dup	coding	Benign
1	151017820	A	AC	T151017823C	PRUNE1	NM_021222.3(PRUNE1):c.50dup:p.Leu18fs	coding	Pathogenic
1	151166996	AC	A	C151166998G	SCNM1	NM_024041.4(SCNM1):c.187del:p.Arg63fs	coding	Pathogenic
1	151291201	G	GACA	T151291207A	ZNF687	NM_020832.3(ZNF687):c.3709_3711dup:p.Asn1237dup	coding	Benign
1	151343835	CA	C	A151343836C	RFX5	NM_001025603.2(RFX5):c.602del:p.Val201fs	coding	Pathogenic
1	151346264	T	TG	C151346272G	RFX5	NM_001025603.2(RFX5):c.56dup:p.Gly20fs	coding	Pathogenic
1	151401643	G	GA	T151401650A	PSMB4	NM_002796.3(PSMB4):c.782+19dup	noncoding	Benign
1	151401798	TTC	T	C151401800G	PSMB4	NM_002796.3(PSMB4):c.783-17_783-16del	noncoding	Benign
1	151405683	G	GT	A151405685T	POGZ	NM_015100.4(POGZ):c.3351dup:p.Pro1118fs	coding	Pathogenic
1	151405722	TG	T	G151405723A	POGZ	NM_015100.4(POGZ):c.3312del:p.Phe1104fs	coding	Pathogenic
1	151406266	G	GT	G151406268T	POGZ	NM_015100.4(POGZ):c.2768dup:p.His923fs	coding	Pathogenic
1	151406291	G	GCA	G151406294C	POGZ	NM_015100.4(POGZ):c.2742_2743dup:p.Ala915fs	coding	Pathogenic
1	151406324	AAGGGAGTTAGT	A	G151406327C	POGZ	NM_015100.4(POGZ):c.2700_2710del:p.Leu901fs	coding	Pathogenic
1	151406325	AG	A	G151406328A	POGZ	NM_015100.4(POGZ):c.2709del:p.Pro903_Leu904insTer	coding	Pathogenic
1	151406396	GGGAA	G	A151406404G	POGZ	NM_015100.4(POGZ):c.2635_2638del:p.Phe879fs	coding	Pathogenic
1	151408165	G	GT	A151408167T	POGZ	NM_015100.4(POGZ):c.2309dup:p.Tyr770Ter	coding	Pathogenic
1	151408446	CAG	C	A151408447G	POGZ	NM_015100.4(POGZ):c.2195_2196del:p.Pro732fs	coding	Pathogenic
1	151408480	TGAG	T	A151408485T	POGZ	NM_015100.4(POGZ):c.2157CTC[1]:p.Ser721del	coding	Benign/Likely_benign
1	151408732	T	TA	C151408734A	POGZ	NM_015100.4(POGZ):c.2022dup:p.Lys675Ter	coding	Pathogenic
1	151408844	GA	G	A151408851G	POGZ	NM_015100.4(POGZ):c.1927-17del	noncoding	Benign
1	151411576	TA	T	A151411590C	POGZ	NM_015100.4(POGZ):c.1926+48del	noncoding	Benign
1	151411576	T	TA	C151411591A	POGZ	NM_015100.4(POGZ):c.1926+35dup	noncoding	Benign
1	151411782	T	TAGG	G151411789A	POGZ	NM_015100.4(POGZ):c.1780-17CCT[3]	noncoding	Benign
1	151427847	TG	T	G151427849T	POGZ	NM_015100.4(POGZ):c.1053del:p.Ser352fs	coding	Pathogenic
1	151429604	TG	T	G151429606A	POGZ	NM_015100.4(POGZ):c.566del:p.Pro189fs	coding	Pathogenic
1	151429787	C	CA	T151429797A	POGZ	NM_015100.4(POGZ):c.460-85dup	noncoding	Benign
1	151660877	CT	C	T151660881A	SNX27	NM_001330723.2(SNX27):c.801+19del	noncoding	Benign
1	151666002	C	CA	C151666004A	SNX27	NM_001330723.2(SNX27):c.977dup:p.His326fs	coding	Pathogenic
1	151683419	C	CTA	C151683424T	SNX27	NM_001330723.2(SNX27):c.1216_1217dup:p.Glu407fs	coding	Pathogenic
1	151692406	C	CT	A151692433T	SNX27	NM_001330723.2(SNX27):c.1240-3dup	noncoding	Benign
1	151692406	CTT	C	T151692431A	SNX27	NM_001330723.2(SNX27):c.1240-4_1240-3del	noncoding	Benign
1	151693412	C	CT	C151693421T	SNX27	NM_001330723.2(SNX27):c.1519-4dup	noncoding	Benign
1	152305201	CAG	C	A152305204T	FLG	NM_002016.2(FLG):c.9683_9684del:p.Asp3227_Ser3228insTer	coding	Pathogenic
1	152306940	CT	C	T152306942G	FLG	NM_002016.2(FLG):c.7945del:p.Ser2649fs	coding	Pathogenic/Likely_pathogenic
1	152308047	CTGGAG	C	T152308048C	FLG	NM_002016.2(FLG):c.6834_6838del:p.Ser2279fs	coding	Pathogenic
1	152311628	CACTG	C	A152311633T	FLG	NM_002016.2(FLG):c.3254_3257del:p.Ser1085fs	coding	Pathogenic
1	152311908	GCT	G	C152311911G	FLG	NM_002016.2(FLG):c.2976_2977del:p.Arg992fs	coding	Pathogenic
1	152312345	TG	T	G152312346A	FLG	NM_002016.2(FLG):c.2540del:p.Gly846_Ser847insTer	coding	Pathogenic
1	152312748	T	TGGTGGCG	A152312758T	FLG	NM_002016.2(FLG):c.2131_2137dup:p.Gln713fs	coding	Pathogenic
1	152314400	TTTTC	T	C152314408T	FLG	NM_002016.2(FLG):c.482_485del:p.Arg161fs	coding	Pathogenic
1	152314443	CCT	C	C152314444G	FLG	NM_002016.2(FLG):c.441_442del:p.Gly149fs	coding	Pathogenic
1	152314865	CT	C	T152314877A	FLG	NM_002016.2(FLG):c.139-119del	coding	Benign
1	152315276	GAAA	G	A152315279C	FLG	NM_002016.2(FLG):c.138+40_138+42del	noncoding	Benign
1	153261515	A	ACTCTGGCGGCGG	T153261535G	LORICRIN	NM_000427.3(LORICRIN):c.574_585dup:p.Gly192_Gly195dup	coding	Benign
1	153261609	G	GC	A153261614C	LORICRIN	NM_000427.3(LORICRIN):c.664dup:p.Gln222fs	coding	Pathogenic
1	153812190	C	CT	A153812209T	GATAD2B	NM_020699.4(GATAD2B):c.1420-76dup	noncoding	Benign
1	153812190	CT	C	T153812208A	GATAD2B	NM_020699.4(GATAD2B):c.1420-59del	noncoding	Benign
1	153816059	A	AACACACACACAC	T153816102A	GATAD2B	NM_020699.4(GATAD2B):c.1216+172GT[27]	noncoding	Benign
1	153816059	A	AACACACACAC	T153816102A	GATAD2B	NM_020699.4(GATAD2B):c.1216+172GT[26]	noncoding	Benign
1	153816059	A	AACACACAC	T153816102A	GATAD2B	NM_020699.4(GATAD2B):c.1216+172GT[25]	noncoding	Benign
1	153816059	AAC	A	A153816100T	GATAD2B	NM_020699.4(GATAD2B):c.1216+172GT[20]	noncoding	Benign
1	153816059	AACAC	A	A153816098T	GATAD2B	NM_020699.4(GATAD2B):c.1216+172GT[19]	noncoding	Benign
1	153816059	AACACAC	A	A153816096T	GATAD2B	NM_020699.4(GATAD2B):c.1216+172GT[18]	noncoding	Benign
1	153817493	AAC	A	C153817495T	GATAD2B	NM_020699.4(GATAD2B):c.777_778del:p.Met259fs	coding	Pathogenic
1	153818115	TC	T	C153818118A	GATAD2B	NM_020699.4(GATAD2B):c.653del:p.Gly218fs	coding	Pathogenic
1	153818314	CT	C	T153818332G	GATAD2B	NM_020699.4(GATAD2B):c.598-144del	noncoding	Benign
1	153818689	AGAG	A	G153818690A	GATAD2B	NM_020699.4(GATAD2B):c.597+99_597+101del	noncoding	Benign
1	153819590	TTTTC	T	C153819598T	GATAD2B	NM_020699.4(GATAD2B):c.465+12_465+15del	noncoding	Benign
1	153828161	ACT	A	T153828163A	GATAD2B	NM_020699.4(GATAD2B):c.185_186del:p.Glu62fs	coding	Pathogenic
1	153828164	CAT	C	A153828165G	GATAD2B	NM_020699.4(GATAD2B):c.182_183del:p.His61fs	coding	Pathogenic
1	153828455	TACACACAC	T	C153828485A	GATAD2B	NM_020699.4(GATAD2B):c.-1-143GT[14]	noncoding	Benign
1	153828455	TACACAC	T	C153828487A	GATAD2B	NM_020699.4(GATAD2B):c.-1-143GT[15]	noncoding	Benign
1	153828455	TAC	T	C153828491A	GATAD2B	NM_020699.4(GATAD2B):c.-1-143GT[17]	noncoding	Benign
1	153828455	T	TAC	A153828493C	GATAD2B	NM_020699.4(GATAD2B):c.-1-143GT[19]	noncoding	Benign
1	153828455	T	TACAC	A153828493C	GATAD2B	NM_020699.4(GATAD2B):c.-1-143GT[20]	noncoding	Benign
1	153991519	A	AAG	C153991523G	RPS27	NM_001030.6(RPS27):c.116-45_116-44dup	noncoding	Benign
1	153991920	C	CAA	G153991922A	RPS27	NM_001030.6(RPS27):c.227-144_227-143insAA	noncoding	Benign
1	153992361	G	GT	A153992377T	RPS27	Single_allele	noncoding	Benign
1	154272670	CCG	C	C154272671T	HAX1	NM_006118.4(HAX1):c.-53_-52del	noncoding	Benign
1	154272671	CG	T	C154272671T	HAX1	NM_006118.4(HAX1):c.-53_-52delinsT	noncoding	Benign
1	154273339	C	CA	G154273341A	HAX1	NM_006118.4(HAX1):c.58dup:p.Arg20fs	coding	Pathogenic
1	154273425	AC	A	C154273428A	HAX1	NM_006118.4(HAX1):c.146del:p.Pro49fs	coding	Pathogenic
1	154273447	GC	G	C154273448A	HAX1	NM_006118.4(HAX1):c.166del:p.His56fs	coding	Pathogenic
1	154273492	A	AGGAG	T154273500G	HAX1	NM_006118.4(HAX1):c.214_217dup:p.Ile73fs	coding	Pathogenic
1	154273516	CTT	C	T154273517C	HAX1	NM_006118.4(HAX1):c.235_236del:p.Phe79fs	coding	Pathogenic
1	154273819	AGGGACAGACACTTC	A	A154273825T	HAX1	NM_006118.4(HAX1):c.368_381del:p.Gln123fs	coding	Pathogenic
1	154273828	C	CAGAT	C154273830G	HAX1	NM_006118.4(HAX1):c.372_373insGATA:p.Leu125fs	coding	Pathogenic
1	154273829	ACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGT	A	C154273833G	HAX1	NM_006118.4(HAX1):c.376_434del:p.Arg126fs	coding	Pathogenic
1	154273914	T	TC	A154273921C	HAX1	NM_006118.4(HAX1):c.463dup:p.Gln155fs	coding	Pathogenic
1	154275000	TG	T	G154275002T	HAX1	NM_006118.4(HAX1):c.556+1del	coding	Pathogenic
1	154454470	A	AT	A154454481T	IL6R	NM_000565.4(IL6R):c.1067-8dup	noncoding	Benign
1	154454470	AT	A	T154454480A	IL6R	NM_000565.4(IL6R):c.1067-8del	noncoding	Benign
1	154585769	A	AC	T154585770C	ADAR	NM_001111.5(ADAR):c.3298_3299insG:p.Ile1100fs	coding	Pathogenic
1	154588204	A	AGCACGGTCGCT	G154588219C	ADAR	NM_001111.5(ADAR):c.2929_2939dup:p.Met981fs	coding	Pathogenic
1	154590141	A	AC	G154590149C	ADAR	NM_001111.5(ADAR):c.2496+36dup	noncoding	Benign
1	154590370	TG	T	G154590373A	ADAR	NM_001111.5(ADAR):c.2309del:p.Pro770fs	coding	Pathogenic
1	154596943	T	TTGGG	C154596948T	ADAR	NM_001111.5(ADAR):c.2128_2131dup:p.Asn711fs	coding	Pathogenic
1	154598698	T	TGGA	A154598703G	ADAR	NM_001111.5(ADAR):c.1602-116_1602-114dup	noncoding	Benign
1	154601150	C	CT	G154601152T	ADAR	NM_001111.5(ADAR):c.1491dup:p.Glu498fs	coding	Pathogenic
1	154601712	C	CA	C154601714A	ADAR	NM_001111.5(ADAR):c.929dup:p.Ser311fs	coding	Pathogenic
1	154602297	GC	G	C154602299A	ADAR	NM_001111.5(ADAR):c.344del:p.Gly115fs	coding	Pathogenic
1	154607722	TACACACACACGC	T	G154607733A	ADAR	NM_001111.5(ADAR):c.15+258_15+269del	noncoding	Benign
1	154607733	G	GCA	T154607753A	ADAR	NM_001111.5(ADAR):c.15+241TG[10]	noncoding	Benign
1	154607872	G	GAC	T154607889A	ADAR	NM_001111.5(ADAR):c.15+104GT[9]	noncoding	Benign
1	154869723	GGCTGCT	G	C154869761A	KCNN3	NM_002249.6(KCNN3):c.200AGC[12]:p.Gln79_Gln80del	coding	Benign
1	154869723	GGCTGCTGCT	G	C154869758A	KCNN3	NM_002249.6(KCNN3):c.200AGC[11]:p.Gln78_Gln80del	coding	Benign
1	154869723	GGCTGCTGCTGCT	G	C154869755A	KCNN3	NM_002249.6(KCNN3):c.200AGC[10]:p.Gln77_Gln80del	coding	Benign
1	154869723	GGCTGCTGCTGCTGCT	G	C154869752A	KCNN3	NM_002249.6(KCNN3):c.200AGC[9]:p.Gln76_Gln80del	coding	Benign
1	154869723	GGCTGCTGCTGCTGCTGCT	G	C154869749A	KCNN3	NM_002249.6(KCNN3):c.200AGC[8]:p.Gln75_Gln80del	coding	Benign
1	154869723	GGCTGCTGCTGCTGCTGCTGCT	G	C154869746A	KCNN3	NM_002249.6(KCNN3):c.200AGC[7]:p.Gln74_Gln80del	coding	Benign
1	154869723	GGCTGCTGCTGCTGCTGCTGCTGCTGCT	G	C154869740A	KCNN3	NM_002249.6(KCNN3):c.200AGC[5]:p.Gln72_Gln80del	coding	Benign
1	154869723	G	GGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200AGC[15]:p.Gln80dup	coding	Benign
1	154869723	G	GGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200AGC[16]:p.Gln79_Gln80dup	coding	Benign/Likely_benign
1	154869723	G	GGCTGCTGCTGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200AGC[19]:p.Gln76_Gln80dup	coding	Benign
1	154869723	G	GGCTGCTGCTGCTGCTGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200AGC[21]:p.Gln74_Gln80dup	coding	Benign
1	154869723	G	GGCTGCTGCTGCTGCTGCTGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200AGC[22]:p.Gln73_Gln80dup	coding	Benign
1	154869723	G	GGCTGCTGCTGCTGCTGCTGCTGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200AGC[23]:p.Gln72_Gln80dup	coding	Benign
1	154869723	G	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200AGC[24]:p.Gln71_Gln80dup	coding	Benign
1	154869854	TTGCTGCTGC	T	G154869871C	KCNN3	NM_002249.6(KCNN3):c.87GCA[5]:p.Gln39_Gln41del	coding	Benign
1	154925080	GC	G	C154925084A	PMVK	NM_006556.4(PMVK):c.*48del	noncoding	Benign
1	154928774	A	AAAATAAAT	T154928817A	PMVK	NM_006556.4(PMVK):c.312+210ATTT[12]	noncoding	Benign
1	154928774	A	AAAAT	T154928817A	PMVK	NM_006556.4(PMVK):c.312+210ATTT[11]	noncoding	Benign
1	154974775	CA	C	A154974778T	CKS1B;SHC1	NM_001826.3(CKS1B):c.33del:p.Lys11fs	coding	Pathogenic
1	154974793	GT	G	T154974796G	CKS1B;SHC1	NM_001826.3(CKS1B):c.51del:p.Phe17fs	coding	Pathogenic
1	154982977	A	ACGGG	C154982979G	FLAD1	Single_allele	noncoding	Benign
1	154988528	GA	G	A154988529G	FLAD1	NM_025207.5(FLAD1):c.797del:p.Glu266fs	coding	Pathogenic
1	154992453	T	TAGAC	G154992458A	FLAD1	NM_025207.5(FLAD1):c.1555-259_1555-256dup	noncoding	Benign
1	155139646	C	CA	G155139662A	DPM3	Single_allele	noncoding	Benign
1	155187766	G	GT	A155187771T	MUC1	NM_001044390.3(MUC1):c.266-194dup	coding	Pathogenic
1	155235254	GTCGTTCT	G	G155235257T	GBA	NM_000157.4(GBA):c.1439_1445del:p.Lys480fs	coding	Pathogenic
1	155235748	TGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAA	T	G155235751T	GBA	NM_000157.4(GBA):c.1265_1320del:p.Leu422fs	coding	Pathogenic
1	155237441	GC	G	C155237442A	GBA1	NM_000157.4(GBA1):c.898del:p.Ala300fs	coding	Pathogenic
1	155239657	GGGGGT	G	G155239659A	GBA	NM_000157.4(GBA):c.408_412del:p.Pro137fs	coding	Pathogenic
1	155239989	C	CG	T155239996G	GBA1	NM_000157.4(GBA1):c.203dup:p.Thr69fs	coding	Pathogenic/Likely_pathogenic
1	155239989	CG	C	G155239995T	GBA	NM_000157.4(GBA):c.203del:p.Pro68fs	coding	Pathogenic
1	155294259	G	GC	G155294263C	PKLR	NM_000298.6(PKLR):c.1091dup:p.Lys365fs	coding	Pathogenic
1	155294335	TC	T	C155294341G	PKLR	NM_000298.6(PKLR):c.1015del:p.Asp339fs	coding	Pathogenic
1	155294620	AC	A	C155294624G	PKLR	NM_000298.6(PKLR):c.826del:p.Val276fs	coding	Pathogenic
1	155295732	CG	C	G155295733C	PKLR	NM_000298.6(PKLR):c.307del:p.Arg103fs	coding	Pathogenic/Likely_pathogenic
1	155301642	TA	T	A155301643T	PKLR	Single_allele	noncoding	Benign
1	155347899	G	GTA	C155347902T	ASH1L	NM_018489.3(ASH1L):c.7558_7559dup:p.Tyr2521fs	coding	Pathogenic
1	155438652	G	GT	G155438659T	ASH1L	NM_018489.3(ASH1L):c.5502dup:p.Leu1835fs	coding	Pathogenic
1	155478893	C	CT	A155478895T	ASH1L	NM_018489.3(ASH1L):c.3976dup:p.Ser1326fs	coding	Pathogenic
1	155480086	GTTGTCACTTTCAGA	G	G155480089C	ASH1L	NM_018489.3(ASH1L):c.2770_2783del:p.Ser924fs	coding	Pathogenic
1	155610045	CA	C	A155610046G	MSTO1	Single_allele	noncoding	Benign
1	155612490	CTT	C	T155612491G	MSTO1	NM_018116.4(MSTO1):c.887_888del:p.Leu296fs	coding	Pathogenic/Likely_pathogenic
1	155613205	AG	A	G155613209T	MSTO1	NM_018116.4(MSTO1):c.1259del:p.Gly420fs	coding	Pathogenic/Likely_pathogenic
1	155688300	T	TC	G155688302C	YY1AP1	NM_139119.3(YY1AP1):c.-151-100dup	coding	Pathogenic
1	155910963	A	ACC	A155910971C	RIT1	NM_006912.6(RIT1):c.-43-166_-43-165dup	noncoding	Benign
1	155910969	C	CA	C155910970A	RIT1	NM_006912.6(RIT1):c.-43-166_-43-165insT	noncoding	Benign
1	156114982	TC	T	C156114983G	LMNA	NM_170707.4(LMNA):c.65del:p.Ser22fs	coding	Pathogenic
1	156115103	G	GC	A156115105C	LMNA	NM_170707.4(LMNA):c.186dup:p.Ile63fs	coding	Pathogenic
1	156115154	CCGCCTACGAGGCCGAGCT	C	C156115157G	LMNA	NM_170707.4(LMNA):c.239_256del:p.Ala80_Leu85del	coding	Pathogenic
1	156115201	GT	TG	G156115201T	LMNA	NM_170707.4(LMNA):c.283_284delinsTG:p.Val95Ter	coding	Pathogenic
1	156115211	AGC	A	G156115216C	LMNA	NM_170707.4(LMNA):c.298_299del:p.Ala100fs	coding	Pathogenic
1	156127023	ACCCTGTCCT	A	T156127029C	LMNA	NM_170707.4(LMNA):c.357-3588_357-3580del	noncoding	Benign
1	156130443	T	TG	A156130447G	LMNA	NM_170707.4(LMNA):c.357-171dup	noncoding	Benign
1	156134412	GC	G	C156134415T	LMNA	NM_170707.4(LMNA):c.526del:p.Ala175_Leu176insTer	coding	Pathogenic
1	156134449	T	TG	C156134451G	LMNA	NM_170707.4(LMNA):c.561dup:p.Leu188fs	coding	Pathogenic
1	156134510	G	GAAGA	C156134516A	LMNA	NM_170707.4(LMNA):c.623_626dup:p.Asn209fs	coding	Pathogenic
1	156134523	A	AGT	A156134527T	LMNA	NM_170707.4(LMNA):c.636_637dup:p.Glu213fs	coding	Pathogenic
1	156134942	T	TAAGAAGGAGCTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A156134958G	LMNA	NM_170707.4(LMNA):c.792_793insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGGAGCTGGAG:p.Lys265delinsAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
1	156135196	GC	G	C156135198A	LMNA	NM_170707.4(LMNA):c.822del:p.Arg275fs	coding	Pathogenic
1	156135943	CTGGCCCGTGAGCGGGA	C	T156135944C	LMNA	NM_170707.4(LMNA):c.980_995del:p.Leu327fs	coding	Pathogenic
1	156135949	C	CG	T156135951G	LMNA	NM_170707.4(LMNA):c.986dup:p.Arg329_Glu330insTer	coding	Pathogenic
1	156136285	A	AG	T156136289G	LMNA	NM_170707.4(LMNA):c.1232dup:p.Gly412fs	coding	Pathogenic
1	156136285	AG	A	G156136288T	LMNA	NM_170707.4(LMNA):c.1232del:p.Gly411fs	coding	Pathogenic
1	156136289	TG	T	G156136294C	LMNA	NM_170707.4(LMNA):c.1238del:p.Gly413fs	coding	Pathogenic
1	156136302	AC	A	C156136304A	LMNA	NM_170707.4(LMNA):c.1248del:p.Lys418fs	coding	Pathogenic
1	156136304	CAAAAAGCGCA	C	A156136307C	LMNA	NM_170707.4(LMNA):c.1251_1260del:p.Lys417fs	coding	Pathogenic
1	156136304	CA	C	A156136309G	LMNA	NM_170707.4(LMNA):c.1253del:p.Lys418fs	coding	Pathogenic
1	156136328	TGA	T	A156136332C	LMNA	NM_170707.4(LMNA):c.1276_1277del:p.Ser426fs	coding	Pathogenic
1	156136351	A	AGCAC	T156136364G	LMNA	NM_170707.4(LMNA):c.1304_1307dup:p.Ser437fs	coding	Pathogenic
1	156136351	AGCACGCAC	A	G156136356T	LMNA	NM_170707.4(LMNA):c.1300_1307del:p.His433_Ala434insTer	coding	Pathogenic/Likely_pathogenic
1	156136375	TG	T	G156136377C	LMNA	NM_170707.4(LMNA):c.1321del:p.Ala441fs	coding	Pathogenic
1	156136432	A	AT	G156136434T	LMNA	NM_170707.4(LMNA):c.1377dup:p.Glu460Ter	coding	Pathogenic
1	156137130	TG	T	G156137134C	LMNA	NM_170707.4(LMNA):c.1510del:p.Ala504fs	coding	Pathogenic/Likely_pathogenic
1	156137144	GC	G	C156137150T	LMNA	NM_170707.4(LMNA):c.1526del:p.Pro509fs	coding	Pathogenic
1	156137174	A	AGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCT	C156137212G	LMNA	NM_170707.4(LMNA):c.1551_1587dup:p.Leu530fs	coding	Pathogenic
1	156137198	GC	G	C156137200T	LMNA	NM_170707.4(LMNA):c.1576del:p.Leu526fs	coding	Pathogenic
1	156137209	G	GCTCT	A156137215T	LMNA	NM_170707.4(LMNA):c.1587_1590dup:p.Ile531fs	coding	Pathogenic
1	156137211	TC	CT	T156137211C	LMNA	NM_170707.4(LMNA):c.1587_1588delinsCT:p.Leu530Phe	coding	Pathogenic
1	156138772	C	CT	G156138776T	LMNA	NM_170707.4(LMNA):c.1968+18dup	noncoding	Benign/Likely_benign
1	156138776	G	GT	C156138778T	LMNA	NM_170707.4(LMNA):c.1968+20dup	noncoding	Benign
1	156139302	G	GA	C156139303A	LMNA	NM_170707.4(LMNA):c.*196_*197insA	coding	Benign
1	156139303	CA	C	A156139317G	LMNA	NM_170707.4(LMNA):c.*211del	coding	Benign
1	156139303	C	CA	G156139318A	LMNA	NM_170707.4(LMNA):c.*211dup	coding	Benign
1	156161338	G	GC	A156161344C	SEMA4A	NM_022367.4(SEMA4A):c.811-3dup	noncoding	Benign
1	156175255	TCCTGGATGGTGG	T	T156175265C	SEMA4A	NM_022367.4(SEMA4A):c.1592+22_1592+33del	noncoding	Benign
1	156591765	G	GGGGCCGGGCC	G156591784C	NAXE	Single_allele	noncoding	Benign
1	156591765	G	GGGGCCGGGCCGGGCC	G156591784C	NAXE	Single_allele	noncoding	Benign
1	156591765	G	GGGGTCGGGCC	C156591769T	NAXE	Single_allele	noncoding	Benign
1	156592145	AC	A	C156592147A	NAXE	NM_144772.3(NAXE):c.229del:p.Gln77fs	coding	Pathogenic
1	156593426	C	CT	G156593428T	NAXE	NM_144772.3(NAXE):c.536dup:p.Tyr180fs	coding	Pathogenic
1	156815752	AC	A	C156815755T	NTRK1	NM_003975.4(SH2D2A):c.123+253del	coding	Benign
1	156815970	AG	A	G156815971C	NTRK1	NM_003975.4(SH2D2A):c.123+35del	noncoding	Benign
1	156861268	ACGCAGCCTTCGGCGCTGCCCGGGCGTTCCTC	A	T156861276G	NTRK1	NM_002529.4(NTRK1):c.212+130_212+160del	noncoding	Benign
1	156868095	G	GC	A156868102C	NTRK1	NM_002529.4(NTRK1):c.429-3dup	noncoding	Benign
1	156868187	CT	C	T156868188G	NTRK1	NM_002529.4(NTRK1):c.513del:p.Glu172fs	coding	Pathogenic
1	156871692	G	GT	G156871694T	NTRK1	NM_002529.4(NTRK1):c.788dup:p.Thr264fs	coding	Pathogenic
1	156873701	GGGCAGCC	G	G156873706C	NTRK1	NM_002529.4(NTRK1):c.924_930del:p.Gln308fs	coding	Pathogenic
1	156873770	ACT	A	C156873771G	NTRK1	NM_002529.4(NTRK1):c.989_990del:p.Thr330fs	coding	Pathogenic
1	156873874	CA	C	A156873876C	NTRK1	NM_002529.4(NTRK1):c.1094del:p.Asn365fs	coding	Pathogenic
1	156874946	TC	T	C156874948T	NTRK1	NM_002529.4(NTRK1):c.1294del:p.Leu432fs	coding	Pathogenic
1	156874951	TC	T	C156874952T	NTRK1	NM_002529.4(NTRK1):c.1298del:p.Ser433fs	coding	Pathogenic
1	156875700	AGT	A	G156875735A	NTRK1	NM_002529.4(NTRK1):c.1501+35GT[17]	noncoding	Benign
1	156876125	TG	T	G156876130A	NTRK1	NM_002529.4(NTRK1):c.1552del:p.Glu518fs	coding	Pathogenic
1	156876416	C	CGGCAGGAAGTCGGCACTGAA	C156876417G	NTRK1	NM_002529.4(NTRK1):c.1649_1650insGGCAGGAAGTCGGCACTGAA:p.Ser550_Glu551insAlaGlySerArgHisTer	coding	Pathogenic
1	156876561	C	CCGCTTCCT	C156876571G	NTRK1	NM_002529.4(NTRK1):c.1796_1803dup:p.Arg602fs	coding	Pathogenic
1	156876569	TC	T	C156876571G	NTRK1	NM_002529.4(NTRK1):c.1804del:p.Arg602fs	coding	Pathogenic
1	156879192	C	CA	G156879194A	NTRK1	NM_002529.4(NTRK1):c.1877dup:p.Leu627fs	coding	Pathogenic
1	156879339	ATC	A	C156879341A	NTRK1	NM_002529.4(NTRK1):c.2025_2026del:p.Tyr676fs	coding	Pathogenic
1	158612557	G	GAAA	G158612568A	SPTA1	NM_003126.4(SPTA1):c.7134+250_7134+252dup	noncoding	Benign
1	158613838	AG	A	G158613840C	SPTA1	NM_003126.4(SPTA1):c.6871del:p.Arg2290_Leu2291insTer	coding	Pathogenic
1	158614280	GTC	G	C158614284T	SPTA1	NM_003126.4(SPTA1):c.6813_6814del:p.Glu2271fs	coding	Pathogenic
1	158620432	GC	G	C158620434T	SPTA1	NM_003126.4(SPTA1):c.6154del:p.Ala2052fs	coding	Pathogenic
1	158640311	C	CT	G158640312T	SPTA1	NM_003126.4(SPTA1):c.4738-305_4738-304insA	noncoding	Benign
1	158645201	CA	C	A158645202C	SPTA1	NM_003126.4(SPTA1):c.4180del:p.Cys1394fs	coding	Pathogenic
1	158648590	AGG	A	G158648592T	SPTA1	NM_003126.4(SPTA1):c.3631_3632del:p.Pro1211fs	coding	Pathogenic
1	158652584	TA	T	A158652589T	SPTA1	NM_003126.4(SPTA1):c.3257del:p.Leu1086fs	coding	Pathogenic
1	158656656	CCTG	C	T158656658A	SPTA1	NM_003126.4(SPTA1):c.2806-3_2806-1del	coding	Pathogenic
1	158669462	GT	G	T158669463C	SPTA1	NM_003126.4(SPTA1):c.1778del:p.Asp593fs	coding	Pathogenic
1	158672083	C	CACTT	G158672088A	SPTA1	NM_003126.4(SPTA1):c.1460_1463dup:p.Asp489fs	coding	Pathogenic
1	158681595	G	GCAA	T158681600A	SPTA1	NM_003126.4(SPTA1):c.460_462dup:p.Leu155dup	coding	Pathogenic/Likely_pathogenic
1	158685344	CA	C	A158685346C	SPTA1	NM_003126.4(SPTA1):c.27del:p.Val10fs	coding	Pathogenic
1	158686356	TTAAAAG	T	G158686362T	SPTA1	NM_003126.4(SPTA1):c.24+132_24+137del	noncoding	Benign
1	158686642	G	GA	C158686654A	SPTA1	NM_003126.4(SPTA1):c.-126dup	noncoding	Benign/Likely_benign
1	159873044	GGTTCT	A	G159873044A	CFAP45	NM_012337.3(CFAP45):c.1472_1477delinsT:p.Gln491fs	coding	Pathogenic
1	159887964	CACCATCTCCTTCT	C	A159887965G	CFAP45	NM_012337.3(CFAP45):c.452_464del:p.Gln151fs	coding	Pathogenic
1	160039373	GACACACACACACAC	G	C160039411G	KCNJ10	NM_002241.5(KCNJ10):c.*1970GT[18]	noncoding	Benign
1	160039373	GACAC	G	C160039421G	KCNJ10	NM_002241.5(KCNJ10):c.*1970GT[23]	noncoding	Benign/Likely_benign
1	160039373	G	GAC	G160039425C	KCNJ10	NM_002241.5(KCNJ10):c.*1970GT[26]	noncoding	Benign
1	160042227	CG	C	G160042233T	KCNJ10	NM_002241.5(KCNJ10):c.305del:p.Pro102fs	coding	Pathogenic
1	160070064	CA	C	A160070065G	KCNJ10	NM_002241.5(KCNJ10):c.-44del	noncoding	Benign
1	160120888	TCTCC	T	C160120891T	ATP1A2	NM_000702.4(ATP1A2):c.13-15_13-12del	noncoding	Benign
1	160125223	ATC	A	C160125225G	ATP1A2	NM_000702.4(ATP1A2):c.720_721del:p.Ile240fs	coding	Pathogenic
1	160127637	GC	G	C160127638G	ATP1A2	NM_000702.4(ATP1A2):c.835del:p.Arg279fs	coding	Pathogenic
1	160127657	A	AG	A160127659G	ATP1A2	NM_000702.4(ATP1A2):c.855dup:p.Ile286fs	coding	Pathogenic
1	160129137	A	AG	C160129139G	ATP1A2	NM_000702.4(ATP1A2):c.1326+49dup	noncoding	Benign
1	160134235	CCA	C	C160134252T	ATP1A2	NM_000702.4(ATP1A2):c.1828-248CA[8]	noncoding	Benign
1	160134235	C	CCACACA	T160134254C	ATP1A2	NM_000702.4(ATP1A2):c.1828-248CA[12]	noncoding	Benign
1	160134235	C	CCACA	T160134254C	ATP1A2	NM_000702.4(ATP1A2):c.1828-248CA[11]	noncoding	Benign
1	160134235	C	CCA	T160134254C	ATP1A2	NM_000702.4(ATP1A2):c.1828-248CA[10]	noncoding	Benign
1	160135283	ATG	A	G160135285C	ATP1A2	NM_000702.4(ATP1A2):c.2105_2106del:p.Cys702fs	coding	Pathogenic/Likely_pathogenic
1	160193707	TGGCTCACTACCCCACCCCTGCGCCC	T	A160193716C	CASQ1	NM_001231.5(CASQ1):c.365-31_365-7del	noncoding	Benign
1	160240105	CTCCTCT	C	T160240118G	DCAF8	NM_015726.4(DCAF8):c.297AGAGGA[2]:p.Glu111_Glu112del	coding	Benign/Likely_benign
1	160282450	T	TA	G160282452A	PEX19	NM_002857.4(PEX19):c.398dup:p.Ser134fs	coding	Pathogenic
1	160282995	GT	G	T160282997C	PEX19	NM_002857.4(PEX19):c.294del:p.Glu98fs	coding	Pathogenic
1	160332564	GA	G	A160332574G	COPA	NM_004371.4(COPA):c.387-8del	noncoding	Benign
1	160332564	G	GA	G160332575A	COPA	NM_004371.4(COPA):c.387-17dup	noncoding	Benign
1	160353151	T	TC	A160353158C	NCSTN	NM_015331.3(NCSTN):c.1102-3dup	noncoding	Benign
1	160354109	A	AC	A160354116C	NCSTN	NM_015331.3(NCSTN):c.1180-3dup	noncoding	Benign
1	160354225	AT	A	T160354228C	NCSTN	NM_015331.3(NCSTN):c.1290del:p.Leu431fs	coding	Pathogenic
1	160354305	GCCCTGCA	G	G160354310C	NCSTN	NM_015331.3(NCSTN):c.1352+20_1352+26del	noncoding	Benign
1	161156958	GAAC	G	C161156964G	UFC1	NM_016406.4(UFC1):c.135CAA[1]:p.Asn46del	coding	Pathogenic
1	161167144	CT	C	T161167145C	PPOX	NM_001122764.3(PPOX):c.133del:p.Ser45fs	coding	Pathogenic
1	161167557	CT	C	T161167584G	PPOX	NM_001122764.3(PPOX):c.338+98del	noncoding	Benign
1	161167993	AG	A	G161167998C	PPOX	NM_001350128.2(PPOX):c.354-415del	noncoding	Pathogenic
1	161168038	T	TGGGCTGGGCTGAGG	A161168054G	PPOX	NM_001122764.3(PPOX):c.384_397dup:p.Glu133delinsGlyLeuGlyTer	coding	Pathogenic
1	161169030	G	GGCCAAGGCCAGC	T161169034A	PPOX	NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC:p.Ala219_Leu220insLysAlaSerAla	coding	Pathogenic
1	161170462	G	GT	A161170464T	PPOX	NM_001122764.3(PPOX):c.1042dup:p.Tyr348fs	coding	Pathogenic
1	161170664	CTG	C	G161170668C	PPOX	NM_001122764.3(PPOX):c.1147_1148del:p.Val383fs	coding	Pathogenic
1	161170760	TCTACA	T	T161170762A	PPOX	NM_001122764.3(PPOX):c.1241_1245del:p.Leu414fs	coding	Pathogenic
1	161206166	GA	G	A161206177G	NDUFS2	NM_001377299.1(NDUFS2):c.203-230del	noncoding	Benign
1	161214269	C	CTGTG	A161214301G	NDUFS2	NM_001377299.1(NDUFS2):c.*78GT[17]	noncoding	Benign
1	161214269	C	CTGTGTGTG	A161214301G	NDUFS2	NM_001377299.1(NDUFS2):c.*78GT[19]	noncoding	Benign
1	161223053	GCCCACACA	G	C161223055A	APOA2	NM_001643.2(APOA2):c.53-11_53-4del	noncoding	Benign
1	161223055	C	CCACACA	T161223095A	APOA2	NM_001643.2(APOA2):c.53-43TG[22]	noncoding	Benign
1	161305976	GTCTGGGGG	CTCTCCTGC	G161305976C	MPZ	NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG	coding	Pathogenic
1	161306113	GCC	G	C161306115G	MPZ	NM_000530.8(MPZ):c.638_639del:p.Gly213fs	coding	Pathogenic
1	161306731	AC	A	C161306733T	MPZ	NM_000530.8(MPZ):c.424del:p.Val142fs	coding	Pathogenic
1	161306810	TG	T	G161306811T	MPZ	NM_000530.8(MPZ):c.345del:p.His115fs	coding	Pathogenic
1	161306832	CT	C	T161306834C	MPZ	NM_000530.8(MPZ):c.323del:p.Lys108fs	coding	Pathogenic
1	161306849	CT	C	T161306850A	MPZ	NM_000530.8(MPZ):c.306del:p.Asp104fs	coding	Pathogenic/Likely_pathogenic
1	161306854	C	CA	C161306856A	MPZ	NM_000530.8(MPZ):c.301dup:p.Trp101fs	coding	Pathogenic
1	161307310	T	TC	A161307312C	MPZ	NM_000530.8(MPZ):c.181dup:p.Asp61fs	coding	Pathogenic
1	161307379	AC	A	C161307381T	MPZ	NM_000530.8(MPZ):c.112del:p.Val38fs	coding	Pathogenic
1	161309551	TA	T	A161309552T	MPZ	NM_000530.8(MPZ):c.67+287del	noncoding	Benign
1	161323695	T	TTA	T161323697A	SDHC	NM_003001.5(SDHC):c.77+26_77+27insAT	noncoding	Benign
1	161323696	TTATTTA	T	A161323698T	SDHC	NM_003001.5(SDHC):c.77+28_77+33del	noncoding	Benign
1	161328413	C	CCA	G161328417A	SDHC	NM_003001.5(SDHC):c.97_98dup:p.Ala34fs	coding	Pathogenic
1	161328435	GC	G	C161328436G	SDHC	NM_003001.5(SDHC):c.118del:p.Arg40fs	coding	Pathogenic
1	161328441	CT	C	T161328442G	SDHC	NM_003001.5(SDHC):c.124del:p.Trp42fs	coding	Pathogenic
1	161340296	TAA	T	A161340305G	SDHC	NM_003001.5(SDHC):c.180-289_180-288del	noncoding	Benign
1	161340296	TA	T	A161340306G	SDHC	NM_003001.5(SDHC):c.180-288del	noncoding	Benign
1	161340626	AC	A	C161340628G	SDHC	NM_003001.5(SDHC):c.214del:p.Arg72fs	coding	Pathogenic
1	161356679	GTC	G	C161356685T	SDHC	NM_003001.5(SDHC):c.250_251del:p.Leu84fs	coding	Pathogenic
1	161356710	T	TC	T161356714C	SDHC	NM_003001.5(SDHC):c.278dup:p.Gly94fs	coding	Pathogenic
1	161356718	AAC	A	A161356719T	SDHC	NM_003001.5(SDHC):c.284_285del:p.Asn95fs	coding	Pathogenic
1	161356932	C	CT	C161356945T	SDHC	NM_003001.5(SDHC):c.405+104dup	noncoding	Benign
1	161357093	G	GTTAA	T161357096A	SDHC	NM_003001.5(SDHC):c.405+255_405+256insAATT	noncoding	Benign
1	161361919	TTTTTTTTTTTTGGCCCATACAATGGCTTTCAACATTCTGAGAGCAAGTGTTTGGAAGAATACACCTTGAGAAACATTAATCTAGATGTGTGGTCCTGAGGAAAAGTTGTATCTATTCATTCTGGAAGCTTTTGTATACCGTATGGGGCCTGTGGCATTCTAGAGAACATTCCTCCTACCATCACCACACAATAGAACCTGATTTTCTGTCATTGGAATAAGTGGATAATAGGTTCCATACTGTGGGTTTTGAGAAGGGTAAAGGTGGGGCATAAGGGTAGAAGCGCTTTTCTCTAGAATCATGCTGAGAGGAGATATCTATTCCTTTAGGTAGAATTACTTTCTGAGACAGGAACTGTTAATGTCCTATTTACTGAAATTCCTTTTTTTTTTTTTTGCTTTGTCCACAGATGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGAAGAAAGGAGGCTCCCAGCATCATCTTCCTACACATTATTACATTCACCCATCTTTCTGTTTGTCATTCTTATCTCCAGCCTGGGAAAAGTTCTCCTTATTTGTTTAGATCCTTTTGTATTTTCAGATCTCCTTGGAGCAGTAGAGTACCTGGTAGACCATAATAGTGGAAAAGGGTCTAGTTTTCCCCTTGTTTCTAAAGATGAGGTGGCTGCAAAAACTCCCCTTTTTTGCCCACAGCTTGCCTACTCTCGGCCTAGAAGCAGTTATTCTCTCTCCATATTGGGCTTTGATTTGTGCTGAGGGTCAGCTTTTGGCTCCTTCTTCCTGAGACAGTGGAAACAATGCCAGCTCTGTGGCTTCTGCCCTGGGGATGGGCCGGGTTGGGGGGTGGGTTGGTGAGGCTTTGGGTGCCACTGCCTGTGGGTTGCTGGCTTAAAGGACAATTCTCTTCATTGGTGAGAGCCCAGGCCATTAACACCTACACAGTGTTATTGAAAGAAGAGAGGTGGGGGTGGAGGGGAATTAGTCTGTCCCAGCTAGAGGGAGATAAAGAGGGCTAGTTAGTTCTTGGAGCAGCTGCTTTTGAGGAGAAAATATATAGCTTTGGACACGAGGAAGATCTAGAAAATTATCATTGAACATATTAATGGTTATTTCTTTTTCTTGGATTTCCAGAAAAGCCTCTTAATTTTATGCTTTCTCATCGAAGTAATGTACCCTTTTTTTCTGAAACTGAATTAAATACTCATTTTATCTTTGACTCTCCTTGAAATCTAGAGAAACCAAGAAAATGGCTGTTGGGAAGGAACCAATTTCCTCCTCTTCCCTCGGGTCTCAGGCATTTACATCCTCCCTCTCCCCGCAATCTGACCTTTACCAGGAGGGAAACAGTTCTCCTACATCTCATCATTGGAAAAGTTTTCAGGGAATCAGATAGAACTTAGCCAGAGATTTAAATATCACAGAAAAGCCTCAGAGAAGGAAGGAGAAAAAGAAAAGAAGTGACGCATGTAGAGTGCTTTTGGGTTATAGGCACCAAAATCCCATTAAGGACTGATTATAAGCTTCATGGTACAGTTCAGCAAATTATGATTCATTGAGGGGCACAGAGGACCAGTGTTGGTGACAGCTAGGGGATGATGACCTGAGGTTATAGGCTTGGGGTGAATGAAGCATAGAGTTTTTTTTTAAAAAAGAAGGGATTGTTGAAAACCTGGCAAAAATGTATAATTTAATGAGAAAACTTGCTGCTTTTAAAATCCATATAGGCCAGGCTTTAGCAGGCATGCTGTTTTGATAGTTTTTGGGAACTCTGGAATAAGAGACTTATCTCATCTGTCACTTCGAGTTGTTGGCCAGCCAGTTAAAGCTGTGGGTCGAAGAGGGGAAATGTTAACTGGCTGGTGTCAATTGGATAGGAAGACCTTAGTTAAGGTGGGGACCCGCTGTTTTAACAGTCTTCATTCAGGGTCCCAAATAGTATTTGGCTTTAAGTAATGATTGGTTTTCCCTTTTTACTAGAGGGGCCCTGGGAAGTCCTTGTACCTTTCCTCCATTTTAAACCAGCTGTTCTCTACTTTGTCCTTGGAATGAGGGACAAGTGATCATGACAGAACACTTTGTCATTGGGACTGGGAAAGGTTTGGCAAGGGCATTAAATTTAACAGCCAGTGCCAGGAAAATATAAAATGGGGTCAATGATAAACAGCTGTTAGAGGCTGGAAAATGGGTAGGGCAGTTGAATTTTTTGGTGGTTTCGTACCATTTGGGTGATTGAAGCATGGTAGTGGGTGGGTGGGGGGTGTGACAGAGCATCATGTTTGTTATTCTGCCTTAAATTTCTACTTACTGTCTTTTTCTTCTCTGTCTTCCAATCACTTTAATATCTTCAATTTTCAAACTATATTTGTACTTGGGCTTAGATAGAAAGTCTTACACAAGCATAGTATCTTCTACTTTGGTTTTCCCTACCTTTTCTTCCCCACCTTCTCCAAACACACATATACATACTCTACTCAATTCTATTTCTGATTTTGTAGTTGTTAGTTGTCCATGCTCAGGATAAAAAATGAGTGGGTAGGGTTGAGGGACTGGTTCTTTGAGGTTCTGCCCTTTTTCCATGATTCAGACCAACTTTCTCTTGGTCATTTCTGGAGTATAACTGACTCAATTCTTGTAAAAATGTGTTCCACCCAAACCACTGTATGTTCTTTTCCCTACTTTATTTTCTCCTACCTTCCTTCTCCTAATTGTGTTACAAGAGGCAGCCATAGCAAGAATGGAAAATCCAGATCAGTAAAAGATTCAACAAAAAAAAGTTTATTTTCCAAATTTGCTTTTACTCCCACCCCAAAATTTCCCTGTTTCACAGTTCTGACTGGGGGCTCTTGTTTATTTCACTGAGTCGCTATACGGGTTTTTCAGTGTGTGGCCACTTGGTCCATATGAAGTTCCAGGTTTGTATTTCTGGACCTCAGCTAGATTAGGCCCTGCCCAGAGTTCTAGCATACGTGGACTTCCAGGTGGGCTCTTAGGATTTGGCTGGTCTTTGGGGACCTGGAGTATGACCTGCAGAGGGGTGTGAGCTTTGGAGTTCATCTGGGGAATTGAGGTTGGCAGCTGGGGAGCTTGGAATTATGGTTGGACTTCGTGCTTGTTGTACAGTCTTTGTGATAGACTTCTTTCTGAGTTTCTTCTGACTGTCTGGATCATGGGGCTGTCAGTGATAAGAGTGGGAGAGATAGTCATGTCTCTGGTCAGGCCCGGATCATTCCTAATGCACCTCAGGATTCTAACTCCCTTTCTCCCCATACCATGGGCAGTAGATCAAGTTTCAAATAAGAAAAGTTAAATTTGATTTCTCTAACCACCCTCCCCCACCTTGAGATTAGATCATTTTCTACTGTTGGGGGTATGATGTCCTTAGCCCATCCCTTCAGGCCTCAGAAGGTGATTAAGGACTAGTCAAGATAAGACAAATTGGTTAGAGGTCCCCCATGCTGGGATAGTGGTGGCATAACAATAGACATTTTTTGAGGTTGAAAAGAAATTGAGACTACAGGGTTTTGGGTTAGATGGGAAGAATAGATACCTTGCCTAAGATTTCAGGACACAGCCCATTGGAGGCCTTGAGTAAATCAGGATTTTTCTGTATCCATTTGGTGAGGGAGGCAGCACCAGCAGTTGTACGGGAGGTCAGGGTCACCCGAGCAGGGGGTATCTTCAGAGGCATTTGCCAGGTGCCCATGAAGGAACCCCAAGGATTTGCCTAAAAATGAAAAGGGATTCCTCAGTAGGGCTTCTCACTCCCAGTAACTGACTTAGACCTCTGTATTATTTCCTTTCTTTACCTTTAGGAATGCATGGTTATGAAACAAGACTGAAAGCATAATCTTCCCACCCTTCCTTATCCCCCTCCCTCATTTAGGCTTTGCAGGCCTAATTTTTTCATCCCCTTTACTCTGCCAACTTAAATTCCACATCCTTAGGCCGAGTGTGGCAAAGGAGTACCCACTGCACAAATGTCATCACCTGAAGGCTTTCATTTATACAGATCATTGATCAATTTAAGAACTTCTGAAGGGTGCTAAACACAACTCTATCCTGCTGGGTAAGCTGGCCGGAAGTTCAGGGGCTCTCACATTACAACATGAATTAGATTAAACTTTAATTTTCCCGATAATGGCTGTGAGAGACTGCACATCTCCCAGTTCTGTGCCTTAATTATTTGACTTTCTTGATAGGAGTGAAGATAGTATCTCACCTTGGAACGGGGCACAGAAGGCAGTAGATGACCACGATCGTTGGCAATAATTTGAGTGTAGCCTTCATGAGAAGAGATGCTCTGGGGTACAAGTGGGAGAGATAAAGGTTTGTGAGGGGAAAAAGGGAAGTATTTGGGGAGCTTGGTCAGAGAAGGATATGGGAGTTTAGAGAATGCTAAAAGGAGTTAATTGACAGGGAGAGCATGAGGCTATCTTGTAGGTGCACTGAACATGGAATACCTCTTTTGTTGGCTTAGTGGGAGACCAGTTCTGCAGATACTTGGATGAGAAAGCCTTTTCATACTGTGGAGAGAAAGATAAGTAGCCCTATGAGACTTCAAGGCCCCAAACCCAGGAAATGAAGACTAGGCACAATTCTTTAGATTTGAAGACCAAAGGCCTGACCAACCATGTAGGCTTTAAGTCACTATGACAAGGGTGTAATTTGTTTGGTCTAGA	T	T161361921G	SDHC	NM_001035511.2(SDHC):c.242-408_*4118del	noncoding	Pathogenic
1	161362301	CT	C	T161362315G	SDHC	NM_003001.5(SDHC):c.406-14del	noncoding	Benign
1	161362301	CTT	C	T161362314G	SDHC	NM_003001.5(SDHC):c.406-15_406-14del	noncoding	Benign
1	161367196	ATGTTTTAATTTTTTCATGTAGCTACTAGAAAATTTAAAATTACATTTGTGGGTCGCACTCTTTTTGTTGGGCAGCACTGGTCTAGATCAGGAGTTGGTAAACTATGGCCTATGGGCCATATCCATATTGCTGCCTGTTTGGGGATGGCCTGAGAGTAAGGGTGATTTTTATAGATGAACATTTACAATTGATTCAGTCAAATGGAACACTAACTTTGAATCCCAGTTAAGTGAAATGTTTTCTCAACCCCCAAAATTCCATTATTTTCATTAGTAGTACAAAAAATTGTACTCAGTTATATTTTGAATTTGTCAAAAATGTTATGGAAAAATGTTTTTCTTTAATTATGCAAGTAGCTACAGAATATTTTTGACTTTGCCACTTGGCCTGCAAAGCCTAAAATTTTTACACTCCGCCCTTTTACAGAAAAAAAATTGCCAACTTCTGGTTTACACCCTACAAATTTAACCAAGAGATACCTTTGGATCGCCCCTGGGCTCTCTCTATCCCTGAGGAGGTAAAATATTATCTCACTCCACTCTCAGCTATCTGTTCAAAGATCAGAATCCTATGAGAGGGGACAGTCCAAAGATAGAATCTGAAAAACAAAAGTAAACGTTAAAGAAATGGAGAATGGGAACTTACCTGGTTGGCACTGTAGTTAGTGGCCATGATCTTGTGCTGTTTACACTCGTTGCTTGGCAACTGCAGAAGGCCGACCTCCTGGGACTACCAATGAGCAGAGGCTGCCTTTCTCTTCTGCTTATTATTATTCACTTCCTTGGCTCACACTGCCCCCATTTGTTTTCTCTGGAACTTAGATTCATTTTTATTTTACAGACGGGAAAGACTGAGTAAATGTGAGAAAATTAGCTGAATAGCCACTACTTTTTTTCTGGCATAACCTACCCCTGCTTAAGAACTTCCACGGGCCTTTGATTGGGGTTTTTAACCACTTTAACAAACCATGTAACCCTGAGAGCTATGCTTGTTGGACAACATGGTGTAATGTACCACAGGCTGTAGAGCCAGATACTGGGGTTTGAATCCTTATTCAACATGGGAACATAGGAGCTATATGACATTAAACAACTGTCTTGTCTTCACTAAATTTCTATCAACTCATTTGTATTGTGGGGATAATAGAGCCTGCTTTTACAGGGTAAGTGAGATAAAATGAATAAAGTGTCTAGACAATATCATAGCATAGTAGGTATTCAATCCTGGTGAGATCCTGTTTATAAGGCCCACTACTTTGTCTTATCAGGCAGAATAACAAAGGAACAATATTTAAAAAGCAACTAGCTCAAATCTGTCCCCAGAAGGAAAAACATATCTTGTCCTTGGTCCTTAAAAAATTTCCTCTGTCACTGTCTAGAATCAGCACCTAAGAACACAGGCGTTTAGTGTTGACTGGAATAAAATGGAATCGGGTGCTGGTGCAGGGAGATTGAGCAGGGATGAAGAGAGAAAATCACAGAGTGGAAAGGATCAGGTTTGGAGAGTTCAATGGGGGGCTGCCAGGACATAAGCCTAATATGTGTGGGACAAGGAAACCCCTCTGAAACTCATAAAATGGTATTGTAATACCCATCTATGAGGTGGTTAGGAGAATTAATAAGTAAGTAGAACTGTGCTTTGTGAATTGTAAAGTGAATTTATATATAAGGTGTCAAGATGAAAGGGAAAAACTAAGAAATAAGTTGCCCAAAGATATCATTAGGACCAGGAGACCATTATAAAGTATATCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGTGGCCGAAGCAGACGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTCTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAATGAGCAGAGATCATGCTACTACTGCACTTCAGCCTGGGCGACAGCGTGAGACTCCGTCTCAAAAAATAAAAAATAAATAAAGTATATCCATCAGTCCCTTCTCTTTTCCTTCTTCCCCCAAAATCCTCATCTTAACCAACACACCAAGTATAAGAGCACTCCTATGCTTCTGCAGATGGAGGGAAGAACAGCTCTTGTTTTATAGGCTCTGGAGTTAATACCTGGATAATGTGAGATCTGGAAAGATAACTCATGAGCTTAGTCCCTGTGGTTCTTATCACTCTCTAGAGAAGAGTTCTTTAAGGACCAAGGACTATCTTTGCTCTAGGATATCCATTTTGGCCCTTTAATCTGCAATGATAGGCTAGCATTATTTCTCTTAGAATTTGTCTTCAGTTGGTATGCCTCCCTCTGCCTTTCTGATAGGAATGTAATGATAAATGATGACTGCACTCATTTTTAAAAGTTAACCAGTTTTTGTTCAATTGAAAAAGTAATGTACATGGAAAAAATTTCATGTTTACAGGATGTTCAGTGAAAAGCAAATCTCCATTTGATTTCAACTCTCAGTCTTGCTCCTCAGGGCAACTGCTGTTACTCATTTCTTGTGTCTCCTTCCAGAAATCTTCTCTGCATACAAACACTAATGAGAGAGCTGTCCACATTGCTTTTTGATTTGCTTTTTGACTATCTTGGGGATTATGTTTTTATCATAATATTCCATTTTGGGATGCACCATAGTTTGTTCAGACCCATATGGATGACCATTTAGTTTATTTATAGTCTTTTGCTAATAAGGACATTGCTGTAATGAAAAATCCCTATGTATCTTTATGAATATGTATGTATGTATTTTTATGTACATATGTGATCTGTAGGATAAATGTTTTAAAGTACATTGCAAAGTCAAAAGGGTTTGTGCATTTAAAATAAGTAGATAGGCCGGGTGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGATCACGAGGTCAGGAGATCGAGACCATCCT	GTCA	A161367196G	SDHC	NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA	noncoding	Pathogenic
1	162287694	A	AC	T162287701C	NOS1AP	NM_014697.3(NOS1AP):c.270+264dup	noncoding	Benign
1	162365091	T	TGTGC	A162365092G	NOS1AP	NM_014697.3(NOS1AP):c.940-313_940-312insGTGC	coding	Benign
1	162753122	CA	C	A162753123G	DDR2	NM_006182.4(DDR2):c.111del:p.Gly38fs	coding	Pathogenic
1	162759993	GGT	G	T162759997G	DDR2	NM_006182.4(DDR2):c.855+18_855+19del	noncoding	Benign
1	162767031	G	GA	G162767043A	DDR2	NM_006182.4(DDR2):c.1163-187dup	noncoding	Benign
1	162767061	G	GAAAA	C162767066A	DDR2	NM_006182.4(DDR2):c.1163-167_1163-164dup	noncoding	Benign
1	162767061	G	GAA	C162767066A	DDR2	NM_006182.4(DDR2):c.1163-165_1163-164dup	noncoding	Benign
1	162767061	G	GA	C162767066A	DDR2	NM_006182.4(DDR2):c.1163-164dup	noncoding	Benign
1	164559888	GT	G	T164559889C	PBX1	NM_002585.4(PBX1):c.67del:p.Ser23fs	coding	Pathogenic
1	164559958	AT	A	T164559962A	PBX1	NM_002585.4(PBX1):c.140del:p.Leu47fs	coding	Pathogenic
1	164792478	C	CTT	G164792480T	PBX1	NM_002585.4(PBX1):c.266-15_266-14insTT	noncoding	Benign
1	164792545	T	TG	C164792547G	PBX1	NM_002585.4(PBX1):c.318dup:p.Arg107fs	coding	Pathogenic
1	165249239	AAGAGATTACTCTG	A	A165249242C	LMX1A	NM_177398.4(LMX1A):c.496+156_496+168del	noncoding	Benign
1	165353417	G	GA	T165353424A	LMX1A	NM_177398.4(LMX1A):c.77-161dup	noncoding	Benign
1	165728260	C	CT	G165728275T	TMCO1	NM_019026.6(TMCO1):c.469-153dup	noncoding	Benign
1	165752203	TA	T	A165752212C	TMCO1	NM_019026.6(TMCO1):c.256-35del	noncoding	Benign
1	165752203	T	TAA	C165752213A	TMCO1	NM_019026.6(TMCO1):c.256-43_256-42dup	noncoding	Benign
1	165752251	CA	C	A165752252T	TMCO1	NM_019026.6(TMCO1):c.256-83del	noncoding	Benign
1	167818076	AG	A	G167818077T	ADCY10	NM_018417.6(ADCY10):c.4477del:p.Leu1493fs	coding	Pathogenic
1	167833744	CA	C	A167833763G	ADCY10	NM_018417.6(ADCY10):c.3417+225del	noncoding	Benign
1	167833744	C	CA	G167833764A	ADCY10	NM_018417.6(ADCY10):c.3417+207dup	noncoding	Benign
1	167854654	CAT	C	A167854655G	ADCY10	NM_018417.6(ADCY10):c.2172-167_2172-166del	noncoding	Benign
1	167875430	C	CT	G167875432T	ADCY10	NM_018417.6(ADCY10):c.1407-245dup	noncoding	Benign
1	167883504	T	TA	G167883506A	ADCY10	NM_018417.6(ADCY10):c.952dup:p.Tyr318fs	coding	Pathogenic
1	167893695	CAAA	C	A167893717G	ADCY10	NM_018417.6(ADCY10):c.828+155_828+157del	noncoding	Benign
1	167893695	CAA	C	A167893718G	ADCY10	NM_018417.6(ADCY10):c.828+156_828+157del	noncoding	Benign
1	167901882	C	CTT	A167901885T	ADCY10	NM_018417.6(ADCY10):c.293-79_293-78dup	noncoding	Benign
1	167904082	CT	C	T167904105G	ADCY10	NM_018417.6(ADCY10):c.149-92del	noncoding	Benign
1	168097118	CAG	C	A168097119G	GPR161	NM_001375883.1(GPR161):c.487_488del:p.Leu163fs	coding	Pathogenic
1	168293287	G	GTT	G168293289T	TBX19	NM_005149.3(TBX19):c.603+10_603+11insTT	noncoding	Benign/Likely_benign
1	169468355	CCTT	C	C169468359T	SLC19A2	NM_006996.3(SLC19A2):c.1224-106_1224-104del	noncoding	Benign
1	169477337	G	GTAAAA	A169477343T	SLC19A2	NM_006996.3(SLC19A2):c.620_624dup:p.Pro209fs	coding	Pathogenic
1	169477770	GA	G	A169477782C	SLC19A2	NM_006996.3(SLC19A2):c.205-14del	noncoding	Benign
1	169523012	CTCTT	C	C169523014A	F5	NM_000130.5(F5):c.6048+181_6048+184del	noncoding	Benign
1	169529623	A	AC	T169529624C	F5	NM_000130.5(F5):c.5403_5404insG:p.Ser1802fs	coding	Pathogenic
1	169529623	AT	A	T169529629C	F5	NM_000130.5(F5):c.5403del:p.Lys1801fs	coding	Pathogenic
1	169536319	CT	C	T169536331A	F5	NM_000130.5(F5):c.4971+186del	noncoding	Benign
1	169540387	G	GCAAT	G169540392C	F5	NM_000130.5(F5):c.4699_4702dup:p.Ala1568fs	coding	Pathogenic
1	169541162	TCTGA	T	C169541167G	F5	NM_000130.5(F5):c.3924_3927del:p.Ser1308fs	coding	Pathogenic
1	169542474	TC	T	C169542475T	F5	NM_000130.5(F5):c.2615del:p.Arg872fs	coding	Pathogenic
1	169546180	TACAC	T	A169546205G	F5	NM_000130.5(F5):c.1762+234GT[12]	noncoding	Benign
1	169546180	TAC	T	A169546207G	F5	NM_000130.5(F5):c.1762+234GT[13]	noncoding	Benign
1	169546180	T	TAC	G169546209A	F5	NM_000130.5(F5):c.1762+234GT[15]	noncoding	Benign
1	169546208	C	CAT	G169546209A	F5	NM_000130.5(F5):c.1762+233_1762+234insAT	noncoding	Benign
1	169549581	TCA	T	A169549585T	F5	NM_000130.5(F5):c.1611+218_1611+219del	noncoding	Benign
1	169549634	CA	C	A169549647G	F5	NM_000130.5(F5):c.1611+166del	noncoding	Benign
1	169549634	C	CA	G169549648A	F5	NM_000130.5(F5):c.1611+154dup	noncoding	Benign
1	169555250	CCACCTCTT	C	C169555253T	F5	NM_000130.5(F5):c.1042_1049del:p.Lys348fs	coding	Pathogenic
1	169556319	T	TCTCTGGC	T169556320C	F5	NM_000130.5(F5):c.952+326_952+327insGCCAGAG	noncoding	Benign
1	169557023	C	CA	G169557028A	F5	NM_000130.5(F5):c.731-160dup	noncoding	Benign
1	169559005	T	TAAAA	G169559017A	F5	NM_000130.5(F5):c.730+137_730+140dup	noncoding	Benign
1	169559005	T	TAAA	G169559017A	F5	NM_000130.5(F5):c.730+137_730+139dup	noncoding	Benign
1	169582311	T	TAA	C169582322A	F5	NM_000130.5(F5):c.250+110_250+111dup	noncoding	Benign
1	169582311	T	TA	C169582322A	F5	NM_000130.5(F5):c.250+110dup	noncoding	Benign
1	169586129	T	TA	G169586143A	F5	NM_000130.5(F5):c.158+87dup	noncoding	Benign
1	170532148	GA	CT	G170532148C	GORAB	NM_152281.2(GORAB):c.-1_1delGAinsCT:p.Met(?_1)_Met1(?)	noncoding	Pathogenic/Likely_pathogenic
1	170532380	AC	A	C170532381G	GORAB	NM_152281.3(GORAB):c.61+97del	noncoding	Benign
1	170539422	AC	A	C170539424T	GORAB	NM_152281.3(GORAB):c.276del:p.Ser93fs	coding	Pathogenic
1	170539554	AAG	A	G170539556A	GORAB	NM_152281.3(GORAB):c.408_409del:p.Lys137fs	coding	Pathogenic/Likely_pathogenic
1	170539556	GA	G	A170539559G	GORAB	NM_152281.3(GORAB):c.411del:p.Val138fs	coding	Pathogenic
1	170539614	G	GT	C170539621T	GORAB	NM_152281.3(GORAB):c.419+53dup	noncoding	Benign
1	171103841	CA	C	A171103844G	FMO3	NM_001002294.3(FMO3):c.192del:p.Glu65fs	coding	Pathogenic
1	171652924	T	TATACACACACAC	C171652926T	MYOC	Single_allele	noncoding	Benign
1	172568999	CT	C	T172569004G	SUCO	NM_014283.5(SUCO):c.733-15del	noncoding	Benign
1	172665449	TG	T	G172665450T	FASLG	NM_000639.3(FASLG):c.452-172del	noncoding	Benign
1	173828309	C	CT	C173828314T	DARS2	NM_018122.5(DARS2):c.228-20dup	noncoding	Benign/Likely_benign
1	173828312	T	TC	T173828313C	DARS2	NM_018122.5(DARS2):c.228-21_228-20insC	noncoding	Benign/Likely_benign
1	173828313	TC	T	C173828323A	DARS2	NM_018122.5(DARS2):c.228-10del	noncoding	Benign
1	173828313	T	TC	A173828324C	DARS2	NM_018122.5(DARS2):c.228-10dup	noncoding	Benign/Likely_benign
1	173828313	T	TCC	A173828324C	DARS2	NM_018122.5(DARS2):c.228-11_228-10dup	noncoding	Benign
1	173828334	CA	C	A173828338C	DARS2	NM_018122.5(DARS2):c.233del:p.Asn78fs	coding	Pathogenic
1	173833295	GA	G	A173833299T	DARS2	NM_018122.5(DARS2):c.493-77del	noncoding	Benign
1	173833440	AC	A	C173833442T	DARS2	NM_018122.5(DARS2):c.559del:p.Leu187fs	coding	Pathogenic
1	173837272	T	TA	G173837289A	DARS2	NM_018122.5(DARS2):c.770+242dup	noncoding	Benign
1	173838414	CT	C	T173838424A	DARS2	NM_018122.5(DARS2):c.840+165del	noncoding	Benign
1	173845213	AT	A	T173845218C	DARS2	NM_018122.5(DARS2):c.1129-11del	noncoding	Benign
1	173845271	GCAGCTGA	G	A173845273C	DARS2	NM_018122.5(DARS2):c.1173_1179del:p.Ala392fs	coding	Pathogenic
1	173850283	C	CA	C173850299A	DARS2	NM_018122.5(DARS2):c.1192-29dup	noncoding	Benign
1	173853353	C	CT	G173853357T	DARS2	NM_018122.5(DARS2):c.1352dup:p.Leu451fs	coding	Pathogenic
1	173853398	CAA	C	A173853399G	DARS2	NM_018122.5(DARS2):c.1395_1396del:p.Gly467fs	coding	Pathogenic
1	173903902	GGGTTGGCTA	G	G173903903C	SERPINC1	NM_000488.4(SERPINC1):c.1373_1381del:p.Val458_Pro461delinsAla	coding	Pathogenic
1	173904008	AACG	A	A173904009G	SERPINC1	NM_000488.4(SERPINC1):c.1273_1275del:p.Arg425del	coding	Pathogenic
1	173907322	G	GCTGTATTATAGCAGGCCTGTGGAGGCCTTTTGCATGCCTTAACACTGGAAACAGGCCTTTTCCACGTGTTCCTGCTGTTCATGCATCTCCTTTCTGTACCCTAAGAGAGTGGGGAAGGTGTACTCACCTCAAGAAATGCCTTATGGAATGCATCTGAGACATAGAGGTCATCTCGGCCTTCTGCAACAATACCTGGAAGGAAGACCGGAGAAGTCTTTGTGAGATGGGAGAA	A173907555C	SERPINC1	NM_000488.4(SERPINC1):c.1154-40_1218+127dup	noncoding	Pathogenic
1	173907462	CT	C	T173907464A	SERPINC1	NM_000488.4(SERPINC1):c.1205del:p.Lys402fs	coding	Pathogenic
1	173908359	AGGCGCCTGTAATCCTAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGGGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGGGACAAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGTCAATAAAGATAAATCTAATTACTTAACATCGTAAACTTATTTTATTATTTATTTATTTATTTAGTGATAGGACCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGTGTGATCACAGTACACCACAGCGTTGACCTCCCGGACTCAGGCAATCCTCCCAGCTCTGCCTCCCAAGAAGCTAGGACTACAGGTGTGCGTCACCATGCCTGGCTAATTTTTTTTATTTTTTGTAGAGACCATCTCACTATGTTGTCCAGGCTGGTCTCGAACTCATGGGCTTAGACGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGTATTACAGGCGTGAGCCACCCTGGCCAGCCAACTTCTTTAAAAGATATTTTAATGTGCCAGGTGCGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCACAAGGTCAAGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCATCTCTACTAAGAATACAGAAATTACCAGGTATGGTGACGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCGCTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAGTAATAATAATAATAATAATAAATGTCAGTGAGGCCTGTGTAATGGGAACCACATTTCCCCAGCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAATGCCCTTTCAAATTCCTCTCCACCTGGTCCCATCTCCTCTACCTGATACAGACTCACAGGGCACCAGTGCTAGCTGGGCCCATGGAGATCCAAGAACAAACTTCCCTTTTACAGAAGAGGAAACTGAGGTCTCAAAAGGAAAAGAGATTTCCACAAATTAGCAGTAGAAACTAGGATCAGTATCCAGGAGTCCTGACTTGTTGCTCCTTTCTATTCTTTCTCCAACTCTTCCACTTTTGGTCAGACTACCTTGCGGGTGGAGAAGGGAGGAAACTCCTTCCTAGACAAACCTGGGAGTTTGGACTTTTCAGGGCTGAACAGATCGACAAGGCCCATGTCTTGCAGCTGCTCCTTCAAACTGAAGCCGTCCTCAATGCGGAAGCGGGGCATGTGGACCACCAGCATCATCTCCTCCAATTCATCCAGCCACTCTTGCAGCACCTCTGGGGTGAGTTCCTTCTCTACCTTGGCCAGGCTCTTCTCAGGCTTGGGCAAGATGAGGACCATGGTGATGTCATCACCTTTGAAGGGCAACTCAAGCACCTGGGTGCCTTCAGCCACGCGCCGATAACGGAACTTGCCTTCCTGGTACATCATAGATGCTGAACACGACTCTCCATCAGCCTTGTAGAACAGTTCCTTCCTTGTGTTCTCAGGGCTGAACTTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCACGAAAACACAAAGGAACAGTAAATGCATTTTACTAGGTGAAAGAAGCCAATCTGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAAAAAACCAAAAAATTAGCCAGGCATGGTGGTGGGTGCCTGTATTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGCCGTGAACCCAGGAGGCGAAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCAAAAATAAATAAATAAATAAATAATAGATTGACCTGCCCTGCTGACCTGTACCTGTGTAGCTTTCGGCAGTCCATTTGCCCTCTCAGGGCTTCGGTCTCGCCATTTAAAAAAAAAGGGGGTAAGCTGAAGAGCAAGAGGAAGTCCCTGGGGTCTCTCCAGGGCCATTCTGAGTACCTTGAAGTAAATGGTGTTAACCAGCACCAGAACAGTGAGCTCATTGATGGCTTCCGAGGGAATGACATCGGTGATTCGGCCTTCGGTCTTATTGGACACCCATTTGTTGATGGCCGCTCTGGATTGCTCTGCATTTTCCTGAGGAGAACAGAAAATAAACCTACTCACCTGTGCTATTCAATTGGCTTCTCCATTTTCCCAGGCAGCATTTTATTTTTCTCACCATCCCTCTGTCCTTTCCCACCATTTGATTAAGAAGCCATTGCTCTAACCCAAATTGGGGAAGCCTCACATATCTAATATAGTTCCATGAATCTTTCCTGTAGTTAATAAATATTATCAGAAGAAAAAGAACAAAAAGAAATAGGAAGAAATAAATGAAAAGAAGGAAGGCGAAAATAGTCTGGGAAAAAGAAGATAAAATATTATTTTCTCTGACTTTGGAAAACCTTAACTCACAAAAGTAGAATTTCCAAGGCATGTGCCAGGGGAAGCAATGAATGATTGCAGGTTATATGGGGTTGGCAGGTTATATGGGGTTGGCAGGTTATATGGAGGAGAGAAATGCCCATGCAGTCAAATACATTTGAGGAATGCCGATTGAATAAAGCCAACAGATTTCTTTGTTGCAGAGTTTCTCAGAACCTTCATAGGCCCATGTGCTTCATGAATCTCCAAGAGGAGAATGTAACATGCATCATGTACCAACTTTATTTGACCATGATAACAGTTCAAATTAAGTAAGATATCTTGTAGAACTGGCATCTTCAAAACACCCTTTGGTATATATTTGAAGTTGGTGGATGGAATGAAGAATTGATTATTAATTCATGTTTTCTGGGCAGTCACTACAATCCAAGCATGGATACCTTTGATTTCTCAGGTTTCAAGTAAGAATAACTATTGCAGGGGTTCTAACTTTTAGTCAGCCCTCCAGCAGTCTTCAGCAGCAAAGCAGTGTGAATTTGGATGCTGTTTCTCCACCTCCTCAATCTCTGAGTGGAGAGGAAGAACTCGGAGGTCAGGGGTAACATCTGCAACTCACCTTGAAGTCCAGGGGCTGGAGCTTGGCTCCATATACCAACTCACTGATGTCCTGGTAGGTCTCATTGAAGGTAAGGGATTTGTCTCCAAAAAGGCGATTGGCTGATACTAACTTGGAGGATTTGTTGGCTTTTCGATAGAGTCGGCAGTTCAGTTTGGCAAAGAAGAAGTGGATCTGATCAGATGTTTTCTCAGATATGGTGTCAAACTTAAATACCTATAGAAGTCAAAAAAAAATGGTGGTGGGTTTGGTGGGCTGCCTAGTTAACATGGGTGGTGAGCACATGCTGGTCAGTCTCTGACTAATAGCCACCTCAGTTGTTAACTCCTTCAAGCACAGTACCTGGGACAGCATAAATGCTCAACTCTTGTGTTCTGATGAATAAAAGGATAAAAGAAGAATGAAGGGTAGGAAGGATAAAGGGAAAAAGAGAGACTAGGTTGCCACCTAAAGTCTCTAAACGCCTCTAGATCAACACACAGACGTTTTCTTGCTGGAATGGGAAAAGTCCTCTTGGTGATTCTGGACAGAGAAGAGAATCAGGACGGTGTCCTTCTCGTAACAAACACTTTTGTGGCATCTACTGGGGCCAGCTGCTCATGGAGGCTCTGGGATACTGGTGGTAGGGGTGAAAAAGGAAGAGTGAATCTATCAGCAAGGGATTAAACAGGCTCAGAATCTAAGAGCTCAGGGCTGAAAAGGACTTAGAAGTCATCCATGCTTTGAAGTTGGAATCCCCCAATGCCCACCTTCACCATCCCCAAGGCAAAATGGGTGAGGCTGTTCCCCTCCTGCCCTTTCCATGCTCTCTCCTCAGGCTACAAAAGGCCTTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTACAATTTCTTTCAAAGAGTGAAGACTTGGGTTAACTCACCCCAGAGCCCTGAGCAAAGGTGATGAAGTTCCATGGAAATTGACCACTAGAATAGAAGGAACCCTCCTAAGACCCACAGACTTTAGTGTCCAAGTTTCAAATAAGCACCGTATACCATCTTGAAGGGACTCATGCCTCCCTATTGATGAACTCTGCTTCCAAAGTGTGATCCAACTTGAAGAAAGACTGTCATGCAGCCAAGCCAAGGACAGATTAAAGATCTAGTGTTTCCATCCATGACTTGTCATAGCCCCAGAGGCCAACAGTGATCAATCAATCTATGACATTTCATCTTATCATGCCCTACTTCCCTCCCACAAAAGGCAGTGGGGGGAAGGGGGTGGGAACTAAGTCACTGAGCTGAAATGATCCATACTTCCCAGAGCCAGAAAACACTCTCACGTCCTTGAGGCTTCTCTTGGCTTTCCTGGGCCCCTGGTCTCAATATACCATCCTAGGCCCCGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAAGCCAAGTCAGGCCGATCCCTTGAAGTCAAGAGTTTGAGGCCAGGCGCGGTGGCTTACGCCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAGAAGAAAAAAAATTAGCCAGGCATGGTGCCGGGGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCGCTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTGAGACCAGTCTGGCCACGTGGTGAAACCCCATCTCTACTAAAAATATAGAAATTAGCTGGGCGTGATGGCGTGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGCAGAGTTTGGAGTGAGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAATAGAGCGAGATTCCATCTCAAAAAAAAAAAAATACTATCCTAGAATTTTTTTCCACGAGAGCCTATATGCCTGATGTCACCATATGGTAAAGCTACTCTTCTTCCACCAGAGGAGGGACTGGCACTACACATTGCCTGGCACAGAGGAAGTGCTGAATGAATAAATAAATAAATGATCAAATTAATGAGTAAACATATAGATGAAAGAATTACTGAAAAGAAGTTGAGAGAAGATACAAGCCTTCCCCCATTTTAAGGTGCTCAAAAGAGGAAACCAGGATTTAAAAAGTAGATAGCCAAGATTCCTTGGCTAATTTTTTAAAAAATGATTTTCAAAGGGAATTATAACACAGTGATGTTCAAAGGGAATCGTAATGCATAATGAGCGCCCCTAGTGGCCTGCAGTGTTGGTTGAGGAATCATTGGACTTGGGCCTATGGAAGCCCCAAAGGTGCTCCTAACAAGGTGGCTGGGCAGAAGACCTTTGGTCGTACCTCCATCAGTTGCTGGAGGGTGTCATTACAGGCACCCAGCTTGGTCATAGCAAAAGCCGTGGAGATACTCAGGGGTGACAGGAAAATGTTATCATTGTCATTCTTGGAATCTGCCAGGTGCTGATAGAAAGTGGTAGCAAAGCGGGAATTGGCCTTGGACAGTTCCCAGACACGCCGGTTGGTGGCCTCCGGGATCTTCTGTTCTGAGCCCTCATCCTCAGTTGCCTTCTTCTCCGGGGAGCGGTAAATGCACATGGGATTCATGGGAATGTCCCGCGGCTTGGCTGTGCAGATGTCCACAGGGCTCCCGTGACAGGTCACGCAGTCCCAGAAGCCAATGAGCAGCAAGGACAAAAGATAAACCTTCCTGCAAGGAGACAAAATGCCAAGTTAAGCTAGGCTGCAACCCCTAGCCCCACTGCCCACCACAGGGTTGCCCCAGTAAAGCAGAGGATTCCAGCCCACCTGGTGTGGCCAAGAGAAAGGCTAAATCCTTTGAACCAAGTACAGGGGCCCGGGACAGGTTCAGTCCTAGACTTCTTGCCAGGGGACAGTTCAGTTGCCTGGACGTGGTCATGTTGGAATTAGAATCATCTGATGGTTATTTGGAGTATTATGTGCTCAATTCCCCACGCTGGGAGAAAAAAGAATGAGAAGCTTCCTGTTTGTGACATGGAATGTGCATGCCTAAAAAATCGGCTTTAGTGCCCAGTGAAGAGTCAGGGTGGTAGGGGGAGCCATCTACAGAAACTGTTTGGGGAAGGACTCTGATAGATGCAGCAGAGAGATTTCAGCAACACAAGAGAAGTAAGAAGAAATGGATGGAGCAAAGGCAATATCTGGCCGGGTGCGG	A	G173908360T	SERPINC1	NM_000488.4(SERPINC1):c.42-486_1154-846del	noncoding	Pathogenic
1	173909620	CTGAAGCCGTCCTCAATGCGGAAGCGGGGCATGTGGACCACCAGCATCATCTCCTCCAATTCATCCAGCCACTCTTGCAGCACCTCTGGGGTGAGTTCCTTCTCTACCTTGGCCAGGCTCTTCTCAGGCTTGGGCAAGATGAGGACCATGGTGATGTCATCACCTTTGAAGGGCAACTCAAGCACCTGGGTGCCTTCAGCCACGCGCCGATAACGGAACTTGCCTTCCTGGTACATCATAGATGCTGAACACGACTCTCCATCAGCCTTGTAGAACAGTTCCTTCCTTGTGTTCTCAGGGCTGAACTTTGACTTCCACAGGCCCTGGAAGAGAATCACAAAGTAAGAACACAAACATTCATAGGAGGATAGTTATTGACACAAGACATATCCATATTATAGTGTTACATTAATATATAATTATTCGGAAAAAAGACTGGCGGGATATGCACAAAAAGGTTAACAATGGCTGTGTCAGAATGATGGAATTATGAGTAGGTTTATTCATAACTGTCAAACCTTGGAAGCAGCCAAAATGTCCTTCAGTAGATGAATAGACAGACTGTGGTACATCCAGACCAAATGTAATGCTATTCCATGCTAAGAAGAAATGAGTGACAAAGCCACGAAAACACAAAGGAACAGTAAATGCATTTTACTAGGTGAAAGAAGCCAATCTGCCGGGCGCGGTGGCTCATGCCTG	C	G173909622A	SERPINC1	NM_000488.4(SERPINC1):c.763-379_1084del	coding	Pathogenic
1	173910796	A	AT	G173910799T	SERPINC1	NM_000488.4(SERPINC1):c.719dup:p.Asn240fs	coding	Pathogenic
1	173912025	C	CA	T173912035A	SERPINC1	NM_000488.4(SERPINC1):c.409-12dup	noncoding	Benign
1	173912549	TTCACCATCCCCAAGGCAAAATGGGTGAGGCTGTTCCCCTCCTGCCCTTTCCATGCTCTCTCCTCAGGCTACAAAAGGCCTTTTGGTTTTATCTGTTCTCTGCCTTTGGTTTTCCTGATTTTGCTCCAATAGGCACTTTTTTTAGGGGGGGATTATGCTTTTGATCAAAAGCTTGGTGCTGAATCTCTCTTTTCTCCAGAGAGATTCAGTCTCACCCTGCTTTCCCAACACATGGCGTTTGTGTAGAGGGGAGGACCAAAGGAACATGTGTGGTTTGGAAGCAGTGTTCTGTTCTGTTCTTCTTGTAGGAAGGGTTACATTTAAGATCTTACCTGGGGACAGAGACATGAGTGATATGGAAGTACTTTGAGACCAGTACCAATGTATACAAAAATGACTGAAGGGCCCAGAGAAGGCAGTATTATGTGTCTTCAGAGTTTTTAAATCTACAATTTCTTTCAAAGAGTGAAGACTTGGGTTAACTCACCCCAGAGCCCTGAGCAAAGGTGATGAAGTTCCATGGAAATTGACCACTAGAATAGAAGGAACCCTCCTAAGACCCACAGACTTTAGTGTCCAAGTTTCAAATAAGCACCGTATACCATCTTGAAGGGACTCATGCCTCCCTATTGATGAACTCTGCTTCCAAAGTGTGATCCAACTTGAAGAAAGACTGTCATGCAGCCAAGCCAAGGACAGATTAAAGATCTAGTGTTTCCATCCATGACTTGTCATAGCCCCAGAGGCCAACAGTGATCAATCAATCTATGACATTTCATCTTATCATGCCCTACTTCCCTCCCACAAAAGGCAGTGGGGGGAAGGGGGTGGGAACTAAGTCACTGAGCTGAAATGATCCATACTTCCCAGAGCCAGAAAACACTCTCACGTCCTTGAGGCTTCTCTTGGCTTTCCTGGGCCCCTGGTCTCAATATACCATCCTAGGCCCCGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAAGCCAAGTCAGGCCGATCCCTTGAAGTCAAGAGTTTGAGGCCAGGCGCGGTGGCTTACGCCTGTAATCACAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAGAAGAAAAAAAATTAGCCAGGCATGGTGCCGGGGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCGCTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTGAGACCAGTCTGGCCACGTGGTGAAACCCCATCTCTACTAAAAATATAGAAATTAGCTGGGCGTGATGGCGTGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGCAGAGTTTGGAGTGAGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAATAGAGCGAGATTCCATCTCAAAAAAAAAAAAATACTATCCTAGAATTTTTTTCCACGAGAGCCTATATGCCTGATGTCACCATATGGTAAAGCTACTCTTCTTCCACCAGAGGAGGGACTGGCACTACACATTGCCTGGCACAGAGGAAGTGCTGAATGAATAAATAAATAAATGATCAAATTAATGAGTAAACATATAGATGAAAGAATTACTGAAAAGAAGTTGAGAGAAGATACAAGCCTTCCCCCATTTTAAGGTGCTCAAAAGAGGAAACCAGGATTTAAAAAGTAGATAGCCAAGATTCCTTGGCTAATTTTTTAAAAAATGATTTTCAAAGGGAATTATAACACAGTGATGTTCAAAGGGAATCGTAATGCATAATGAGCGCCCCTAGTGGCCTGCAGTGTTGGTTGAGGAATCATTGGACTTGGGCCTATGGAAGCCCCAAAGGTGCTCCTAACAAGGTGGCTGGGCAGAAGACCTTTGGTCGTACCTCCATCAGTTGCTGGAGGGTGTCATTACAGGCACCCAGCTTGGTCATAGCAAAAGCCGTGGAGATACTCAGGGGTGACAGGAAAATGTTATCATTGTCATTCTTGGAATCTGCCAGGTGCTGATAGAAAGTGGTAGCAAAGCGGGAATTGGCCTTGGACAGTTCCCAGACACGCCGGTTGGTGGCCTCCGGGATCTTCTGTTCTGAGCCCTCATCCTCAGTTGCCTTCTTCTCCGGGGAGCGGTAAATGCACATGGGATTCATGGGAATGTCCCGCGGCTTGGCTGTGCAGATGTCCACAGGGCTCCCGTGACAGGTCACGCAG	T	A173912552C	SERPINC1	NM_000488.4(SERPINC1):c.84_409-536del	noncoding	Pathogenic
1	173914638	ATGTTATCATTGTCATTCTTGGAATCTGCCAGGTGCTGATAGAAAGTGGTAGCAAAGCGGGAATTGGCCTTGGACAGTTCCCAGACACGCCGGTTGGTGGCCTCCGGGATCTTCTGTTCTGAGCCCTCATCCTCAGTTGCCTTCTTCTCCGGGGAGCGGTAAATGCACATGGGATTCATGGGAATGTCCCGCGGCTTGGCTGTGCAGATGTCCACAGGGCTCCCGTGACAGGTCACGCAGTCCCAGAAGCCAATGAGCAGCAAGGACAAAAGATAAACCTTCCTGCAAGGAGACAAAATGCCAAGTTAAGCTAGGCTGCAACCCCTAGCCCCACTGCCCACCACAGGGTTGCCCCAGTAAAGCAGAGGATTCCAGCCCACCTGGTGTGGCCAAGAGAAAGGCTAAATCCTTTGAACCAAGTACAGGGGCCCGGGACAGGTTCAGTCCTAGACTTCTTGCCAGGGGACAGTTCAGTTGCCTGGACGTGGTCATGTTGGAATTAGAATCATCTGATGGTTATTTGGAGTATTATGTGCTCAATTCCCCACGCTGGGAGAAAAAAGAATGAGAAGCTTCCTGTTTGTGACATGGAATGTGCATGCCTAAAAAATCGGCTTTAGTGCCCAGTGAAGAGTCAGGGTGGTAGGGGGAGCCATCTACAGAAACTGTTTGGGGAAGGACTCTGATAGATGCAGCAGAGAGATTTCAGCAACACAAGAGAAGTAAGAAGAAATGGATGGAGCAAAGGCAATATCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGAGGTTGGGTGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGTGACAAAGTGAGACTGTGTCTCAAAACAGCAACAACAAACAAACAAACAAACAAAAACAATGGCAATATCTGTGTGCTGAAGATTCCTACATCTCTAGCTCCAGCCCTAACCCTTCCACTGAGCTCCAGACTGACTATTTGCTGGACAGTTCCACCAGGAACTCCTACAAGTTCTTCAGGGAAACAGGACCAAACTGAACTGGTAATTAATTCTCCCCCACAGGCCTGCTCCTGTGAGTGGGCTCAGTGAATCCCGTACAGAAACCTGAGAATCACCCTGGATTCCTCCCTCTCTCCTCCTCATTTAGTCAAACCCCAGAGTCAATCAGTTCACCCCAGAGTCAATCAGTTCTGTTTTTTTACTCTTTCACCAGTTATTGCCACTGCTTTAGTTCAGGCTCTCATCCCTTTTTATTGCCTGGAATTTTTAATAGTCGCCAACATGGATTCAATGAAGGTAAATGAAGCTAATTTCACATTTTAAAAAAATGAGGTAGTTGGGACACTCGATGAAGCAAATCAAGAGATAAAGTCTCTTGTAATATTTTTTGTAGATAAGACAGGGTGGGGCAGGGGCTGCCTCCAGCTGGTTTATGGTTCCTGCGTGTACACAAGGGGGTCTGTGTGTGGGTACTGGATCTTCCCATCTTCTCCTGGGAGAGAAAGACAGGCACCCAGTGCAGATTCACGGACGTGGTCCGTTGGGCAAGCCTGGGGCTGGCTGGAAGCTGGGGCAGCTGAGGGGGACTTGCCTTCTTGCGTGGTCTGAGTCCAGTTCTGCAGCCCTTTCAAGAACAGAGGTGCAAAGCCGGAGAGAAGCAGCGGCACCAAGGGAGATGTGGAAGGCAGGCTGAAGAAGCAGAGAGAGAGAGGAGAGGACCCTGCCATTCATCTTCCCATCTCCACTGCCTTCGGTTGCCCACTCTGTCCTTCAACTACATTTGGAAATGCAATTTGAGGCTGAGAGGACCCTGGGAGGGCTATGAAGCACAAATTAAAACCAAGACAGTTGTGCCACCACCCCGTTTCTAGCCTCCTGTGACAACTCAGATGAAGAAGGGAGTGTGTGTGGCATTGAGGGAGGGACAACTCTCATTGTGAGAAAAGGAAGCAGTTTTGGCCCTTTAGTCAAAGGTCACTGGGATTTGGGTGGGGGTGGAGTGGGGTGGATCTGAGTGGAAGAAAGAGCAAAAAGGGAGTGAGGAGGTCCTCATGGGTAGCATTTGCTCTCTTCCCGGATGGATGGCAGGCCCTGGGGATTCCCCTTGGAGCGTCCCCTGGATCCCGTGAGTGCTGACTTCCTGCACAGCATCTTTACACCAGGGATGACATCCCCCTTGTTTCTTAGGCTAGGGACCCAAGGGGTAGCTTAGGAAAGGCCTTACCCCAAGAGGTGGGGTGGGAGGGAGAGCACTTGAAATGACGTCTTCCAAACAGGTCTTTGACTGTAACTACCAGGGAGAGGGCCTGGTCTTCTCAAAGGTGTTGGAGGTCATTCCTGTGAGTCCTTTGGAGGTCACAAAACCCAGTAGGGGCAGGCAAGGGGAAAGCTCACCCCTCTTACCTTTTTCCAGAGGTTACAGTTCCTATCACATTGGAATACATGGCCGCTAATCTTCCACAGGGCTGGGCAAGTGGAGATAGTGTGATCTGAGGCAATCCGCCTGAAAACTGGTTCTTTCCTCTAAATCTCGCAGAGGTTCCAGAGGACAGGGTGGGGCAGAGAGCTGGTCAGGAGGGGGAACTGAGGTCAAAGGCTGATGACCAGTTCCCAGGGTTAAGCAAAGTGTAGAGCCCAGTGTTGTTTAATTAGTAGAGAAGTTTTAAAGTTCAATCAGGCCCAGGGAAAGCCTGAGCCACCTCTCTTGCCCACACTCCCTCACTCTTCTCCTCAGCTTTATAGAAAAGGAAAAGGAGAGTATGTTCATACCCTCAAACTTGGTTAGGAAACTAACCAAGGAAACAAACTTGGTTCATACCCACCCTCTCTCATAGTTTTCTTTATGGAGAGAGGGAGAGAGAGAGAGAAATATCTAATTAGAGAAGGCAAAGAGGGACAAGCTGCTACCTTCAGGCATCTGAGTGCCAAGGTGTCCCTGGCACAGACAAGGAAAACACAATGGTTACACCTGTGGCCCACAGAGAGACCCATTCCCCAGCAGCCCTGAAGTGGTGGGACAGGGAGAGAAGAGCAGGGCCTCGGGGTGCATGCCAAGCGCGTTTCTAAGGGGTGTGAGCAGCTGGGAAATACTTAGCAAAACTCTACTGGGGGATCAGGAGACAGAATGCGGGGCAGGTGAAAAACCCACGTACAACTGCTGAAATAAAAACAAACTAAATTATATTTATGTGTATCGTTATTTTTATTAGTTATTGGGGAGATTGGGTAAATTCAAACTAGTGGAGATAAAGGGCAGGTTTGTTTACATTTCCCTCTTCTGAAATAGCCAAAAGCACCATCACAAGGACTGCAGCCACCAAGTTCACAGGGCGCATGTGCCTCCTGCTGTGTGATCAAGGACTCCTTGTAGTTGTTGTTGCAGTCATAGGCATTTTCGAGAGCTCTTCGTTCATGAGAGAGGACATCTCTCCTGAACTGAAGCTGTGTCTAAGTTCTTGGCTGATTCAGACCCTGGATCCTTTGAAGCCCTCCATGTGCAGTGTGAACAGTAGCCGAGAACTGTCCCAAAGGGCCCCAGAATGCCCAGAGGCTCATCTGTCACCCTAGATTAAAGACTATTGAAAAGTCTCCTGTTCAACCACTTGAGTTCAACAAATACACGAGTGCTGCTTGTGCCAGCAGACACTGTTCTTGGGGCTGGGATTCCATTCGGGGGAGACATACAGCAATCACATAAAGAATCAGTATTTTAGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGTAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCGGCCTAGCCAACCTGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGCTGGGCATGGTGGTGGGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGACCCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCTATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAATCAGTATTTAAAAAATAAATATGTAACGTGCCAGTCAGATGTTAATAAGGTCCATAGAGAAAACTATAGCAGGGCAAGGATATAGGAAGCAGTGGGAGGAAGTGGGGAGGGCACCATCTGAGAACACTTGGTAGGAAAGGCCTCCCTTAGGAATCATTGTTAGGAAACCAGAATGAAATGATGGAGGGGGCCATATGAATATCTTTAGGAAGAGCTGTCCAAAGAGAAATCAGAAATACAAAGACCTTGAGGTTTCAGGAACATGCTGTTGAGACCTATTGTTCCAGCTTATAGGAGTTATGAGGTTTGTGTCTTGCCAAGAAGGTCCTTGGGGGAGGGCAGATGAGGGGCCCTGCAAAAATATAGGTGATTTGGTGAACATCGCTGGAAAAGATTAGGATGCAGATACTACCAGGTCAAGGAATTAAGAACTATAACATCAGGGTTTGTGTTTAATTTGTTCATCCAGGCTGGATGCAGTGGCTCACATCTGTAATCCTAGCACTTTGGAAGGCCAAGGCTTGAGGCCAGGAGTTCAAGACCAACTGTGAGACCCCACACACGGTGAGACCCCCATCTCCAGAAAATAATAATAATAAGCTGGGCATGGTGGCATGAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAATTCAGACTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGCCCCTGTCTCAAATGTTAAAAATTAAATTATATATATATTTTAAAAGTGTTCTGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAAGACAGTGAAACCCTGTCTCTACTAAAAAATAAAAAAAAAATTAGCTGGGCATGGTGGTATGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTGCAGTGAGTCGAGATTACGCCACTGCACTCTAGCCTGGATGACAGAGCGAGACTCCATACAGGTGTAAGCCACTCTGCCTGGTGCATATTCTTTTCTTCTTCTTCTTCTTTTTTTTGTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCAGCCCACCTCCAACCTCTGCCTCCCAGGTTCTAGAGATTCTCGTGACTCAACCTCCCAAGTAGCTGGGATTACAGGCCCCTTCCACCATGCTTGGCAATTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGTCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAACCACAGCGCCCAGCATTATTTTCAAATATAGTACTATTTAAAAATCTCTAAACCTTATTCTAATTTTGCCAATCATCCAATTAATGTTTTTAGAGACTGGTTGTCACTCTGTTGCCATTAGAGATGGGGGTCTTGCTCTGCTGCCCACACTGGTCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCCCCACTAGCTGGAATTACAGGCAGGAGTCACCACACCTGGTTTTCAAAGCAATGGTTTTCACCTTCTTTGTTTCAGAATCCTTTTATAGTCTTGCCAAAGAACATCTAAATATTATTATTAAAATAGTTACATATTAAAATAGTTTTGGCCAGGCTGAGTGGCTCACACTAGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGCGAAACTCCATCTCTATAAAAAAATGCAAAAACTTAGCTGGGCATGGAGGTATGCGCTGGTAATCTCAGCTACCCAGGAGGCTGAGGTGGGAGAATCACTTGAGCCTGGAAGGTTGAGGCTGCAGTGAGCCATGATGGCACCACCGCACTCCAGCTTGGGTGATGGAGTAAGATCCTGTCTCAAAACATAAATAAATAAAGTGAAATCGTTTCGACTTCATATACCTACTGAAAGGTTTTCTGAATCTCCTAGGGTCCCTGGACCATGCTTTGGGAAGCACTGATTTATAGCCAATAAAAAAAAAAGAAAAGAATTTTTTTTCTCCTTTCCCTGGGGCAGGAGCACACATTGCATTTAGTTGTCATGTCTCTTTAGTCTTCTGCAGCTTGGAACAGTTCCTCTCGTCTATGGTCATACTACCCTGAAAGTGCTTGATCTTAGAAGCTAAGCAGGGTCGGCCCCGGTTAGTACTTGGATGGGAACAGTTCCTCTCTTTTTCTTTCATGATTTTGGCTTGTTTGAAGCATATAGGCCAGTTAATTTTGAAGACTGTCTCTCAATTTGGTATGTCTAAAATTTCTTCAGGATTAGATTCAAGTTATCCTTTTCGGGGCAGGAATACAACAGAGGTAATACTGTGTCCTTCTCAGTGTATCGCATCAGGAGGTACAGATGTTAATTTATCCCATCACTGGTGATTAACTTGGATTACAAGATTGTGTCTGCCAAGTTTCTCTGCTGTAAAATTACAATGTTTCCCCTTTTGTTAAATGTCTTGTGGGGATACTTCACATACTTGAGAGTATGCAAATATATTGTTTTCCATCAAATTTTCACCTGCTAATTTAAGCTTCCCTCAATGATCCTTTTGCAAGACTTACAAAAATTTTTTTAATTAATCTTTTTTTCTGAGACATGGTCTCACTATTGCCCAGGCTGGAGTACAGTGACACCATCTTAGCTCACCGCAGCCCTAGACAACTTGGGCTCAAGCAATCCTCCCATCTTAGTCTCCCAAGTAGCTGGGACTACAGGTGTGTGCTACTGTGTCTGGCTATTTATTTATTTATTTTGAGAGGGAATTTCACTCTTGTTACCCAGGCTAGAGTGCAATGGCGCAGTCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCGCCATGCCCTGCTAATTTTTGTATTTTTAGTAGAAACGGAATTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACTTCGGATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCACCTGGCTTTATTTATG	A	G173914640A	SERPINC1	NC_000001.11:g.173914639_173922031del	coding	Pathogenic
1	173914723	C	CA	C173914725A	SERPINC1	NM_000488.4(SERPINC1):c.237dup:p.Val80fs	coding	Pathogenic
1	173914905	AAAAGATAAACCTTCCTGCAAGGAGACAAAATGCCAAGTTAAGCTAGGCTGCAACCCCTAGCCCCACTGCCCACCACAGGGTTGCCCCAGTAAAGCAGAGGATTCCAGCCCACCTGGTGTGGCCAAGAGAAAGGCTAAATCCTTTGAACCAAGTACAGGGGCCCGGGACAGGTTCAGTCCTAGACTTCTTGCCAGGGGACAGTTCAGTTGCCTGGACGTGGTCATGTTGGAATTAGAATCATCTGATGGTTATTTGGAGTATTATGTGCTCAATTCCCCACGCTGGGAGAAAAAAGAATGAGAAGCTTCCTGTTTGTGACATGGAATGTGCATGCCTAAAAAATCGGCTTTAGTGCCCAGTGAAGAGTCAGGGTGGTAGGGGGAGCCATCTACAGAAACTGTTTGGGGAAGGACTCTGATAGATGCAGCAGAGAGATTTCAGCAACACAAGAGAAGTAAGAAGAAATGGATGGAGCAAAGGCAATATCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGAGGTTGGGTGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGTGACAAAGTGAGACTGTGTCTCAAAACAGCAACAACAAACAAACAAACAAACAAAAACAATGGCAATATCTGTGTGCTGAAGATTCCTACATCTCTAGCTCCAGCCCTAACCCTTCCACTGAGCTCCAGACTGACTATTTGCTGGACAGTTCCACCAGGAACTCCTACAAGTTCTTCAGGGAAACAGGACCAAACTGAACTGGTAATTAATTCTCCCCCACAGGCCTGCTCCTGTGAGTGGGCTCAGTGAATCCCGTACAGAAACCTGAGAATCACCCTGGATTCCTCCCTCTCTCCTCCTCATTTAGTCAAACCCCAGAGTCAATCAGTTCACCCCAGAGTCAATCAGTTCTGTTTTTTTACTCTTTCACCAGTTATTGCCACTGCTTTAGTTCAGGCTCTCATCCCTTTTTATTGCCTGGAATTTTTAATAGTCGCCAACATGGATTCAATGAAGGTAAATGAAGCTAATTTCACATTTTAAAAAAATGAGGTAGTTGGGACACTCGATGAAGCAAATCAAGAGATAAAGTCTCTTGTAATATTTTTTGTAGATAAGACAGGGTGGGGCAGGGGCTGCCTCCAGCTGGTTTATGGTTCCTGCGTGTACACAAGGGGGTCTGTGTGTGGGTACTGGATCTTCCCATCTTCTCCTGGGAGAGAAAGACAGGCACCCAGTGCAGATTCACGGACGTGGTCCGTTGGGCAAGCCTGGGGCTGGCTGGAAGCTGGGGCAGCTGAGGGGGACTTGCCTTCTTGCGTGGTCTGAGTCCAGTTCTGCAGCCCTTTCAAGAACAGAGGTGCAAAGCCGGAGAGAAGCAGCGGCACCAAGGGAGATGTGGAAGGCAGGCTGAAGAAGCAGAGAGAGAGAGGAGAGGACCCTGCCATTCATCTTCCCATCTCCACTGCCTTCGGTTGCCCACTCTGTCCTTCAACTACATTTGGAAATGCAATTTGAGGCTGAGAGGACCCTGGGAGGGCTATGAAGCACAAATTAAAACCAAGACAGTTGTGCCACCACCCCGTTTCTAGCCTCCTGTGACAACTCAGATGAAGAAGGGAGTGTGTGTGGCATTGAGGGAGGGACAACTCTCATTGTGAGAAAAGGAAGCAGTTTTGGCCCTTTAGTCAAAGGTCACTGGGATTTGGGTGGGGGTGGAGTGGGGTGGATCTGAGTGGAAGAAAGAGCAAAAAGGGAGTGAGGAGGTCCTCATGGGTAGCATTTGCTCTCTTCCCGGATGGATGGCAGGCCCTGGGGATTCCCCTTG	A	A173914906G	SERPINC1	NM_000488.4(SERPINC1):c.41+297_55del	coding	Pathogenic
1	173917604	A	ATAC	C173917605T	SERPINC1	Single_allele	noncoding	Benign
1	175362698	TC	T	C175362701T	TNR	NM_003285.3(TNR):c.2818del:p.Glu940fs	coding	Pathogenic
1	175391319	GC	G	C175391320G	TNR	NM_003285.3(TNR):c.1475del:p.Arg492fs	coding	Pathogenic
1	176595532	A	AAT	C176595533A	PAPPA2	NM_020318.3(PAPPA2):c.1928_1929insAT:p.Asp643fs	coding	Pathogenic
1	179551292	CA	C	A179551295T	NPHS2	NM_014625.4(NPHS2):c.1032del:p.Phe344fs	coding	Pathogenic
1	179551455	GA	G	A179551459C	NPHS2	NM_014625.4(NPHS2):c.874-5del	noncoding	Benign
1	179557025	AC	A	C179557027T	NPHS2	NM_014625.4(NPHS2):c.738+1del	noncoding	Pathogenic
1	179557238	GA	G	A179557244G	NPHS2	NM_014625.4(NPHS2):c.535-9del	noncoding	Benign
1	179557238	G	GA	G179557245A	NPHS2	NM_014625.4(NPHS2):c.535-9dup	noncoding	Benign
1	179559690	G	GT	A179559692T	NPHS2	NM_014625.4(NPHS2):c.522dup:p.Pro175fs	coding	Pathogenic
1	179559760	AC	A	C179559762T	NPHS2	NM_014625.4(NPHS2):c.452del	coding	Pathogenic/Likely_pathogenic
1	179561342	CT	C	T179561345C	NPHS2	NM_014625.4(NPHS2):c.397del:p.Arg133fs	coding	Pathogenic
1	179564688	AC	CA	A179564688C	NPHS2	NM_014625.4(NPHS2):c.378+1_378+2delinsTG	noncoding	Pathogenic
1	179564707	TG	T	G179564709A	NPHS2	NM_014625.4(NPHS2):c.360del:p.Ile121fs	coding	Pathogenic
1	179882024	TG	T	G179882027T	TOR1AIP1	Single_allele	noncoding	Benign
1	179882690	C	CG	C179882692G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.189dup:p.Pro64fs	coding	Pathogenic
1	179882880	GA	G	A179882881C	TOR1AIP1	NM_015602.4(TOR1AIP1):c.379del:p.Thr127fs	coding	Pathogenic
1	179884516	CAA	C	A179884517G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.476-175_476-174del	noncoding	Benign
1	179889652	CT	C	T179889667A	TOR1AIP1	NM_015602.4(TOR1AIP1):c.610+298del	noncoding	Benign
1	179900112	C	CT	C179900119T	TOR1AIP1	NM_015602.4(TOR1AIP1):c.611-8dup	noncoding	Benign
1	179901350	CT	C	T179901351G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.702del:p.Val235fs	coding	Pathogenic
1	179907593	TTA	T	A179907617G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.797-229TA[11]	noncoding	Benign
1	179907593	TTATA	T	A179907615G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.797-229TA[10]	noncoding	Benign
1	179907593	T	TTA	G179907619A	TOR1AIP1	NM_015602.4(TOR1AIP1):c.797-229TA[13]	noncoding	Benign
1	180266520	CG	C	G180266525A	LHX4	NM_033343.4(LHX4):c.382del:p.Asp128fs	coding	Pathogenic
1	180271949	GAGA	G	A180271952G	LHX4	NM_033343.4(LHX4):c.724_726del:p.Lys242del	coding	Benign/Likely_benign
1	180492292	G	GT	A180492299T	ACBD6	NM_032360.4(ACBD6):c.360dup:p.Leu121fs	coding	Pathogenic
1	180787871	C	CT	G180787882T	XPR1	NM_004736.4(XPR1):c.223+27dup	noncoding	Benign
1	180787871	C	CTT	G180787882T	XPR1	NM_004736.4(XPR1):c.223+26_223+27dup	noncoding	Benign
1	180787981	G	GT	A180787982T	XPR1	NM_004736.4(XPR1):c.223+127_223+128insT	noncoding	Benign
1	180834856	A	AT	C180834867T	XPR1	NM_004736.4(XPR1):c.1135-8dup	noncoding	Benign
1	180834856	AT	A	T180834866C	XPR1	NM_004736.4(XPR1):c.1135-8del	noncoding	Benign
1	180836356	CA	C	A180836368G	XPR1	NM_004736.4(XPR1):c.1307-154del	noncoding	Benign
1	180836356	C	CA	G180836369A	XPR1	NM_004736.4(XPR1):c.1307-154dup	noncoding	Benign
1	180883707	C	CA	T180883725A	XPR1	NM_004736.4(XPR1):c.2031-282dup	noncoding	Benign
1	181483212	CTTTG	C	G181483216A	CACNA1E	Single_allele	noncoding	Benign
1	181483507	T	TTC	T181483509C	CACNA1E	Single_allele	noncoding	Benign
1	181510592	TC	T	C181510596T	CACNA1E	NM_001205293.3(CACNA1E):c.372+14del	noncoding	Benign
1	181711077	T	TG	C181711084G	CACNA1E	NM_001205293.3(CACNA1E):c.1171+14dup	noncoding	Benign
1	181716295	T	TA	T181716296A	CACNA1E	NM_001205293.3(CACNA1E):c.1315+166_1315+167insA	noncoding	Benign
1	181716296	TA	T	A181716312G	CACNA1E	NM_001205293.3(CACNA1E):c.1315+183del	noncoding	Benign
1	181716296	T	TA	G181716313A	CACNA1E	NM_001205293.3(CACNA1E):c.1315+183dup	noncoding	Benign
1	181720668	GA	G	A181720669G	CACNA1E	NM_001205293.3(CACNA1E):c.1884-114del	noncoding	Benign
1	181721614	CT	C	T181721627A	CACNA1E	NM_001205293.3(CACNA1E):c.1957-131del	noncoding	Benign
1	181721881	CT	C	T181721886A	CACNA1E	NM_001205293.3(CACNA1E):c.2074+11del	noncoding	Benign
1	181732587	AGGGCCTGGCCCT	A	G181732602A	CACNA1E	NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1]:p.835GLAL[1]	coding	Benign
1	181752123	T	TG	C181752129G	CACNA1E	NM_001205293.3(CACNA1E):c.3732-15dup	noncoding	Benign
1	181762531	T	TC	T181762533C	CACNA1E	NM_001205293.3(CACNA1E):c.4606-42dup	noncoding	Benign
1	181771283	TCTC	T	C181771287A	CACNA1E	NM_001205293.3(CACNA1E):c.4882-6_4882-4del	noncoding	Benign
1	181776085	TC	T	C181776089T	CACNA1E	NM_001205293.3(CACNA1E):c.5140-12del	noncoding	Benign
1	181783478	TACA	T	C181783495A	CACNA1E	NM_001205293.3(CACNA1E):c.5365-200ACA[5]	noncoding	Benign
1	181783633	A	AT	G181783648T	CACNA1E	NM_001205293.3(CACNA1E):c.5365-32dup	noncoding	Benign
1	181783633	AT	A	T181783647G	CACNA1E	NM_001205293.3(CACNA1E):c.5365-32del	noncoding	Benign
1	181783647	T	TG	C181783649G	CACNA1E	NM_001205293.3(CACNA1E):c.5365-31dup	noncoding	Benign
1	181783787	AAGCTT	A	C181783795G	CACNA1E	NM_001205293.3(CACNA1E):c.5470+11_5470+15del	noncoding	Benign
1	181790290	C	CT	A181790308T	CACNA1E	NM_001205293.3(CACNA1E):c.5787-138dup	noncoding	Benign
1	181790307	T	TA	T181790310A	CACNA1E	NM_001205293.3(CACNA1E):c.5787-136dup	noncoding	Benign
1	181790307	T	TTA	A181790308T	CACNA1E	NM_001205293.3(CACNA1E):c.5787-138_5787-137insTA	noncoding	Benign
1	181790307	T	TTTA	A181790308T	CACNA1E	NM_001205293.3(CACNA1E):c.5787-138_5787-137insTTA	noncoding	Benign
1	182386315	AG	A	G182386318T	GLUL	NM_001033044.4(GLUL):c.415del:p.Leu139fs	coding	Pathogenic
1	182389018	AGGCCCTT	A	C182389021T	GLUL	NM_001033044.4(GLUL):c.-13-275_-13-269del	noncoding	Benign
1	183108161	A	AG	A183108162G	LAMC1	NM_002293.4(LAMC1):c.724-115_724-114insG	noncoding	Benign
1	183116476	C	CAA	T183116490A	LAMC1	NM_002293.4(LAMC1):c.1329-89_1329-88dup	noncoding	Benign
1	183116476	C	CA	T183116490A	LAMC1	NM_002293.4(LAMC1):c.1329-88dup	noncoding	Benign
1	183126050	TAA	T	A183126063G	LAMC1	NM_002293.4(LAMC1):c.2802-57_2802-56del	noncoding	Benign
1	183128470	TAAAAA	T	A183128481G	LAMC1	NM_002293.4(LAMC1):c.3124-113_3124-109del	noncoding	Benign
1	183128470	TAAA	T	A183128483G	LAMC1	NM_002293.4(LAMC1):c.3124-111_3124-109del	noncoding	Benign
1	183128470	TA	T	A183128485G	LAMC1	NM_002293.4(LAMC1):c.3124-109del	noncoding	Benign
1	183128475	A	ATT	A183128476T	LAMC1	NM_002293.4(LAMC1):c.3124-119_3124-118insTT	noncoding	Benign
1	183131172	C	CAAAAA	G183131191A	LAMC1	NM_002293.4(LAMC1):c.3487-113_3487-109dup	noncoding	Benign
1	183131172	C	CAAAA	G183131191A	LAMC1	NM_002293.4(LAMC1):c.3487-112_3487-109dup	noncoding	Benign
1	183131172	C	CAAA	G183131191A	LAMC1	NM_002293.4(LAMC1):c.3487-111_3487-109dup	noncoding	Benign
1	183131172	C	CAA	G183131191A	LAMC1	NM_002293.4(LAMC1):c.3487-110_3487-109dup	noncoding	Benign
1	183131428	G	GGT	A183131461G	LAMC1	NM_002293.4(LAMC1):c.3566+51GT[17]	noncoding	Benign
1	183131428	G	GTGTGT	G183131429T	LAMC1	NM_002293.4(LAMC1):c.3566+50_3566+51insTGTGT	noncoding	Benign
1	183131428	G	GTGTGTGT	G183131429T	LAMC1	NM_002293.4(LAMC1):c.3566+50_3566+51insTGTGTGT	noncoding	Benign
1	183131428	G	GTGTGTGTGT	G183131429T	LAMC1	NM_002293.4(LAMC1):c.3566+50_3566+51insTGTGTGTGT	noncoding	Benign
1	183131428	G	GTGTGTGTGTGT	G183131429T	LAMC1	NM_002293.4(LAMC1):c.3566+50_3566+51insTGTGTGTGTGT	noncoding	Benign
1	183132292	AAAT	A	T183132319A	LAMC1	NM_002293.4(LAMC1):c.3567-107AAT[8]	noncoding	Benign
1	183135205	AT	A	T183135216A	LAMC1	NM_002293.4(LAMC1):c.4114+60del	noncoding	Benign
1	183136720	CT	C	T183136731C	LAMC1	NM_002293.4(LAMC1):c.4314+146del	noncoding	Benign
1	183137488	T	TG	T183137489G	LAMC1	NM_002293.4(LAMC1):c.4315-181_4315-180insG	noncoding	Benign
1	183140230	AT	A	T183140231G	LAMC1	NM_002293.4(LAMC1):c.4474-173del	noncoding	Benign
1	183142824	CAG	C	A183142825G	LAMC1	NM_002293.4(LAMC1):c.*35_*36del	noncoding	Benign
1	183186580	CT	C	T183186581C	LAMC2	NM_005562.3(LAMC2):c.79+150del	noncoding	Benign
1	183207835	G	GT	G183207851T	LAMC2	NM_005562.3(LAMC2):c.80-31dup	noncoding	Benign
1	183207835	G	GTT	G183207851T	LAMC2	NM_005562.3(LAMC2):c.80-32_80-31dup	noncoding	Benign
1	183207835	G	GTTT	G183207851T	LAMC2	NM_005562.3(LAMC2):c.80-33_80-31dup	noncoding	Benign
1	183207835	GT	G	T183207850G	LAMC2	NM_005562.3(LAMC2):c.80-31del	noncoding	Benign
1	183207945	T	TAATGG	T183207952A	LAMC2	NM_005562.3(LAMC2):c.146_150dup:p.Phe51fs	coding	Pathogenic/Likely_pathogenic
1	183208058	G	GT	A183208060T	LAMC2	NM_005562.3(LAMC2):c.258dup:p.Asn87Ter	coding	Pathogenic
1	183215588	TGTGA	T	G183215591A	LAMC2	NM_005562.3(LAMC2):c.404+3_404+6del	coding	Pathogenic
1	183220858	GA	G	A183220860C	LAMC2	NM_005562.3(LAMC2):c.539del:p.Asn180fs	coding	Pathogenic
1	183221794	T	TG	T183221795G	LAMC2	NM_005562.3(LAMC2):c.641-295_641-294insG	noncoding	Benign
1	183222190	CCTGT	C	G183222193A	LAMC2	NM_005562.3(LAMC2):c.745_748del:p.Val249fs	coding	Pathogenic
1	183223156	AG	A	G183223158T	LAMC2	NM_005562.3(LAMC2):c.787del:p.Gln262_Val263insTer	coding	Pathogenic
1	183225653	CT	C	T183225656G	LAMC2	NM_005562.3(LAMC2):c.1002del:p.Phe334fs	coding	Pathogenic
1	183225696	AT	A	T183225697C	LAMC2	NM_005562.3(LAMC2):c.1043del:p.Ile348fs	coding	Pathogenic
1	183225720	AG	A	G183225721T	LAMC2	NM_005562.3(LAMC2):c.1066+1del	coding	Pathogenic
1	183227561	C	CTGCCCAAT	G183227572C	LAMC2	NM_005562.3(LAMC2):c.1335_1342dup:p.Gly448fs	coding	Pathogenic
1	183227659	AG	A	G183227661A	LAMC2	NM_005562.3(LAMC2):c.1432del:p.Glu478fs	coding	Pathogenic
1	183228417	CT	C	T183228420G	LAMC2	NM_005562.3(LAMC2):c.1515del:p.Phe505fs	coding	Pathogenic
1	183228500	AC	A	C183228502G	LAMC2	NM_005562.3(LAMC2):c.1597del:p.Arg533fs	coding	Pathogenic
1	183231027	AGC	A	G183231028C	LAMC2	NM_005562.3(LAMC2):c.1782_1783del:p.Lys594fs	coding	Pathogenic/Likely_pathogenic
1	183232330	CCAGATTT	C	T183232335A	LAMC2	NM_005562.3(LAMC2):c.2006_2012del:p.Ile669fs	coding	Pathogenic/Likely_pathogenic
1	183235693	AG	A	G183235694C	LAMC2	NM_005562.3(LAMC2):c.2420del:p.Ser807fs	coding	Pathogenic
1	183235694	GC	G	C183235697G	LAMC2	NM_005562.3(LAMC2):c.2423del:p.Pro808fs	coding	Pathogenic
1	183236388	CAA	C	A183236405G	LAMC2	NM_005562.3(LAMC2):c.2457-55_2457-54del	noncoding	Benign
1	183236388	CA	C	A183236406G	LAMC2	NM_005562.3(LAMC2):c.2457-54del	noncoding	Benign
1	183236511	AGCGGAAATTGAAGCAGATAGGTCTTATCAGCACAGTCTCCGCCTCCTGGATTCAGTGTCTCG	A	G183236514T	LAMC2	NM_005562.3(LAMC2):c.2511_2572del:p.Glu838fs	coding	Pathogenic
1	183236567	TG	T	G183236568T	LAMC2	NM_005562.3(LAMC2):c.2565del:p.Ser856fs	coding	Pathogenic
1	183236603	AG	A	G183236605T	LAMC2	NM_005562.3(LAMC2):c.2601+1del	coding	Pathogenic
1	183240357	ACT	A	T183240359A	LAMC2	NM_005562.3(LAMC2):c.3296_3297del:p.Leu1099fs	coding	Pathogenic
1	183243158	AGT	A	G183243161A	LAMC2	NM_005562.3(LAMC2):c.3343_3344del:p.Val1115fs	coding	Pathogenic
1	183243211	G	GA	C183243213A	LAMC2	NM_005562.3(LAMC2):c.3394dup:p.Thr1132fs	coding	Pathogenic
1	183566668	A	AC	A183566671C	NCF2	NM_000433.4(NCF2):c.924+250dup	noncoding	Benign
1	183571080	TA	T	A183571082T	NCF2	NM_000433.4(NCF2):c.610-242del	noncoding	Benign
1	183586897	CTCTG	C	T183586902G	NCF2	NM_000433.4(NCF2):c.251_254del:p.Thr84fs	coding	Pathogenic
1	183586976	GC	G	C183586978T	NCF2	NC_000001.10:g.183556112del	coding	Pathogenic
1	183590577	A	AT	G183590578T	NCF2	NM_000433.3(NCF2):c.-249_-248insA	noncoding	Benign/Likely_benign
1	184072495	C	CA	T184072506A	TSEN15	NM_052965.4(TSEN15):c.495+207dup	noncoding	Benign
1	184072626	T	TA	C184072634A	TSEN15	NM_052965.4(TSEN15):c.496-194dup	noncoding	Benign
1	184708188	C	CT	G184708190T	EDEM3	NM_025191.4(EDEM3):c.2001dup:p.Ala668fs	coding	Pathogenic
1	184708330	GA	G	A184708331T	EDEM3	NM_025191.4(EDEM3):c.1859del:p.Ile620fs	coding	Pathogenic
1	184712583	GAAGA	G	A184712589T	EDEM3	NM_025191.4(EDEM3):c.1382_1385del:p.Phe461fs	coding	Pathogenic
1	184716888	CT	C	T184716889G	EDEM3	NM_025191.4(EDEM3):c.1369del:p.Arg457fs	coding	Pathogenic
1	185984151	C	CT	C185984161T	HMCN1	NM_031935.3(HMCN1):c.2791-9dup	noncoding	Benign
1	185984316	A	AAG	C185984322G	HMCN1	NM_031935.3(HMCN1):c.2935+4AG[3]	noncoding	Benign
1	185990454	T	TG	A185990458G	HMCN1	NM_031935.3(HMCN1):c.3377+14dup	noncoding	Benign
1	186015942	CTA	C	A186015944G	HMCN1	NM_031935.3(HMCN1):c.4910-14_4910-13del	noncoding	Benign/Likely_benign
1	186119173	A	AT	C186119182T	HMCN1	NM_031935.3(HMCN1):c.11849-10dup	noncoding	Benign
1	186128062	CTTTT	C	T186128066A	HMCN1	NM_031935.3(HMCN1):c.12691-12_12691-9del	noncoding	Benign
1	186129949	TTTC	T	C186129952G	HMCN1	NM_031935.3(HMCN1):c.12905-14_12905-12del	noncoding	Benign
1	186151180	G	GT	C186151190T	HMCN1	NM_031935.3(HMCN1):c.14609-11dup	noncoding	Benign
1	186151180	GT	G	T186151189C	HMCN1	NM_031935.3(HMCN1):c.14609-11del	noncoding	Benign
1	186151591	C	CT	C186151600T	HMCN1	NM_031935.3(HMCN1):c.14759-7dup	noncoding	Benign
1	186166170	G	GT	C186166174T	HMCN1	NM_031935.3(HMCN1):c.15320-11dup	noncoding	Benign
1	186306583	AACT	A	T186306589A	PRG4	NM_005807.6(PRG4):c.867TAC[1]:p.Thr292del	coding	Benign
1	186307034	A	AC	A186307040C	PRG4	NM_005807.6(PRG4):c.1320dup:p.Lys441fs	coding	Pathogenic
1	186307653	CT	C	T186307654G	PRG4	NM_005807.6(PRG4):c.1935del:p.Glu646fs	coding	Pathogenic
1	186308523	CTAAGA	C	A186308525G	PRG4	NM_005807.6(PRG4):c.2806_2810del:p.Lys936fs	coding	Pathogenic
1	186308609	ACAACT	A	C186308613G	PRG4	NM_005807.6(PRG4):c.2894_2898del:p.Thr965fs	coding	Pathogenic
1	186308713	GAACA	G	A186308717C	PRG4	NM_005807.6(PRG4):c.2998_3001del:p.Lys1000fs	coding	Pathogenic
1	186308958	A	ACCAAACT	A186308980C	PRG4	NM_005807.6(PRG4):c.3254_3260dup:p.Val1088fs	coding	Pathogenic/Likely_pathogenic
1	186308958	ACCAAACT	A	C186308973A	PRG4	NM_005807.6(PRG4):c.3254_3260del:p.Asn1084_Ser1085insTer	coding	Pathogenic
1	186309856	T	TA	G186309858A	PRG4	NM_005807.6(PRG4):c.3486dup:p.Val1163fs	coding	Pathogenic
1	186312227	TG	T	G186312229A	PRG4;TPR	NM_003292.3(TPR):c.*1743del	coding	Pathogenic
1	193122189	AG	A	G193122197A	CDC73	NM_024529.5(CDC73):c.-4del	noncoding	Benign/Likely_benign
1	193122209	CG	C	G193122210T	CDC73	NM_024529.5(CDC73):c.10del:p.Val4fs	coding	Pathogenic
1	193122247	AG	A	G193122249A	CDC73	NM_024529.5(CDC73):c.49del:p.Glu17fs	coding	Pathogenic
1	193125134	AGAGAGTACTACACATTG	A	G193125137T	CDC73	NM_024529.5(CDC73):c.157_173del:p.Glu53fs	coding	Pathogenic
1	193125180	TG	T	G193125181C	CDC73	NM_024529.5(CDC73):c.201del:p.His68fs	coding	Pathogenic
1	193130175	CT	C	T193130176G	CDC73	NM_024529.5(CDC73):c.240del:p.Glu81fs	coding	Pathogenic
1	193135412	GA	G	A193135414G	CDC73	NM_024529.5(CDC73):c.331del:p.Ser111fs	coding	Pathogenic
1	193138108	TAAAG	T	A193138110G	CDC73	NM_024529.5(CDC73):c.449_452del:p.Lys150fs	coding	Pathogenic
1	193138161	CTG	C	T193138162A	CDC73	NM_024529.5(CDC73):c.501_502del:p.Glu168fs	coding	Pathogenic
1	193138169	AT	A	T193138171A	CDC73	NM_024529.5(CDC73):c.510del:p.Arg171fs	coding	Pathogenic
1	193141961	TAAAC	T	A193141963G	CDC73	NM_024529.5(CDC73):c.626_629del:p.Lys209fs	coding	Pathogenic
1	193142015	CAG	C	A193142024T	CDC73	NM_024529.5(CDC73):c.687_688del:p.Arg229fs	coding	Pathogenic
1	193150292	A	AT	A193150300T	CDC73	NM_024529.5(CDC73):c.829-5dup	noncoding	Benign
1	193150351	A	AT	A193150353T	CDC73	NM_024529.5(CDC73):c.877dup:p.Tyr293fs	coding	Pathogenic
1	193150352	T	TA	C193150354A	CDC73	NM_024529.5(CDC73):c.878dup:p.Tyr293Ter	coding	Pathogenic
1	193150366	AT	A	T193150368C	CDC73	NM_024529.5(CDC73):c.893del:p.Phe298fs	coding	Pathogenic
1	193150369	CA	C	A193150372G	CDC73	NM_024529.5(CDC73):c.897del:p.Gly300fs	coding	Pathogenic
1	193152366	C	CT	C193152375T	CDC73	NM_024529.5(CDC73):c.908-6dup	noncoding	Benign/Likely_benign
1	193212045	A	AT	C193212054T	CDC73	NM_024529.5(CDC73):c.1031-12dup	noncoding	Benign
1	193212045	AT	A	T193212053C	CDC73	NM_024529.5(CDC73):c.1031-12del	noncoding	Benign
1	193233063	AAAGAC	A	A193233064C	CDC73	NM_024529.5(CDC73):c.1226_1230del:p.Lys409fs	coding	Pathogenic
1	193233143	GC	G	C193233145T	CDC73	NM_024529.5(CDC73):c.1307del:p.Pro436fs	coding	Pathogenic
1	193236334	AC	A	C193236336A	CDC73	NM_024529.5(CDC73):c.1397del:p.Pro466fs	coding	Pathogenic
1	193236352	T	TA	G193236357A	CDC73	NM_024529.5(CDC73):c.1417dup:p.Ile473fs	coding	Pathogenic
1	193250665	A	AT	C193250673T	CDC73	NM_024529.5(CDC73):c.1560-4dup	noncoding	Benign/Likely_benign
1	196652194	CTT	C	T196652197C	CFH	NM_000186.4(CFH):c.58+22_58+23del	noncoding	Benign
1	196673839	C	CT	C196673849T	CFH	NM_000186.4(CFH):c.245-9dup	noncoding	Benign
1	196673839	C	CTT	C196673849T	CFH	NM_000186.4(CFH):c.245-10_245-9dup	noncoding	Benign
1	196673839	C	CTTT	C196673849T	CFH	NM_000186.4(CFH):c.245-11_245-9dup	noncoding	Benign/Likely_benign
1	196673839	CT	C	T196673848C	CFH	NM_000186.4(CFH):c.245-9del	noncoding	Benign
1	196677517	AT	A	T196677519G	CFH	NM_000186.4(CFH):c.471del:p.Ile157fs	coding	Pathogenic
1	196690145	TG	T	G196690146C	CFH	NM_000186.4(CFH):c.1243del:p.Ala415fs	coding	Pathogenic
1	196725221	AG	GT	A196725221G	CFH	NM_000186.4(CFH):c.1797_1798delinsGT:p.Gly600Ter	coding	Pathogenic
1	196726545	GAC	G	C196726549G	CFH	NM_000186.4(CFH):c.1953_1954del:p.His651fs	coding	Pathogenic
1	196737474	G	GA	T196737481A	CFH	NM_000186.4(CFH):c.2602dup:p.Ile868fs	noncoding	Pathogenic
1	196740606	C	CT	A196740617T	CFH	NM_000186.4(CFH):c.2783-3dup	noncoding	Benign/Likely_benign
1	196825319	G	GT	C196825320T	CFHR1	NM_002113.3(CFHR1):c.59-158_59-157insT	noncoding	Benign
1	196910150	TA	T	A196910165G	CFHR4	NM_001201550.3(CFHR4):c.800-116del	noncoding	Benign
1	196914810	TA	T	A196914824C	CFHR4	NM_001201550.3(CFHR4):c.1358-132del	noncoding	Benign
1	196914810	T	TA	C196914825A	CFHR4	NM_001201550.3(CFHR4):c.1358-132dup	noncoding	Benign
1	197057028	G	GAAGT	G197057033A	F13B	NM_001994.3(F13B):c.1152_1155dup:p.Pro386fs	coding	Pathogenic
1	197061107	CT	C	T197061113A	F13B	NM_001994.3(F13B):c.452-33del	noncoding	Benign
1	197062959	A	AT	G197062966T	F13B	NM_001994.3(F13B):c.162dup:p.Leu55fs	coding	Pathogenic
1	197063058	CT	C	T197063059G	F13B	NM_001994.3(F13B):c.65-2del	coding	Pathogenic
1	197084431	T	TA	G197084447A	ASPM	NM_018136.5(ASPM):c.10332-20dup	noncoding	Benign
1	197088361	T	TCC	A197088362C	ASPM	NM_018136.5(ASPM):c.10055_10056insGG:p.Ile3352fs	coding	Pathogenic
1	197090100	A	AAC	G197090114C	ASPM	NM_018136.5(ASPM):c.9830-28GT[7]	noncoding	Benign
1	197091228	CTG	C	T197091245C	ASPM	NM_018136.5(ASPM):c.9445-205CA[8]	noncoding	Benign
1	197100549	TGT	GG	T197100549G	ASPM	NM_018136.5(ASPM):c.8700_8702delinsCC:p.Lys2900fs	coding	Pathogenic
1	197101109	TG	T	G197101110C	ASPM	NM_018136.5(ASPM):c.8141del:p.Ala2714fs	coding	Pathogenic
1	197101585	CTT	C	T197101587G	ASPM	NM_018136.5(ASPM):c.7664_7665del:p.Lys2555fs	coding	Pathogenic
1	197101918	T	TGGTGGCTC	A197101928G	ASPM	NM_018136.5(ASPM):c.7325_7332dup:p.Ile2445fs	coding	Pathogenic
1	197102395	TGA	T	A197102403G	ASPM	NM_018136.5(ASPM):c.6854_6855del:p.Leu2285fs	coding	Pathogenic/Likely_pathogenic
1	197102942	AAC	A	C197102944G	ASPM	NM_018136.5(ASPM):c.6307_6308del:p.Val2103fs	coding	Pathogenic
1	197103197	CAAATATA	C	A197103200T	ASPM	NM_018136.5(ASPM):c.6047_6053del:p.His2015_Leu2016insTer	coding	Pathogenic
1	197104381	T	ACCAGAATATA	T197104381A	ASPM	NM_018136.5(ASPM):c.4870delinsTATATTCTGGT:p.Lys1624fs	coding	Pathogenic
1	197104795	AAATAT	A	A197104797T	ASPM	NM_018136.5(ASPM):c.4451_4455del:p.Tyr1484fs	coding	Pathogenic
1	197121939	T	TA	G197121941A	ASPM	NM_018136.5(ASPM):c.3845dup:p.Thr1284fs	coding	Pathogenic
1	197128343	G	GAA	C197128359A	ASPM	NM_018136.5(ASPM):c.2936+132_2936+133dup	noncoding	Benign
1	197128343	G	GA	C197128359A	ASPM	NM_018136.5(ASPM):c.2936+132dup	noncoding	Benign
1	197128761	AAAAT	A	A197128764T	ASPM	NM_018136.5(ASPM):c.2761-100_2761-97del	noncoding	Benign
1	197129962	A	AT	A197129964T	ASPM	NM_018136.5(ASPM):c.2581dup:p.Ile861fs	coding	Pathogenic
1	197135019	TA	T	A197135022G	ASPM	NM_018136.5(ASPM):c.2173+76del	noncoding	Benign
1	197135175	CT	C	T197135179C	ASPM	NM_018136.5(ASPM):c.2093del:p.Lys698fs	coding	Pathogenic
1	197139746	TTAAGTA	T	G197139750T	ASPM	NM_018136.5(ASPM):c.2026+15_2026+20del	noncoding	Benign
1	197139860	AT	A	T197139861A	ASPM	NM_018136.5(ASPM):c.1932del:p.Phe645fs	coding	Pathogenic
1	197142427	GCT	G	C197142430G	ASPM	NM_018136.5(ASPM):c.1823_1824del:p.Glu608fs	coding	Pathogenic
1	197142450	CT	C	T197142454G	ASPM	NM_018136.5(ASPM):c.1801del:p.Arg601fs	coding	Pathogenic
1	197142557	AG	A	G197142558A	ASPM	NM_018136.5(ASPM):c.1694del:p.Ser565fs	coding	Pathogenic
1	197142635	TTC	T	C197142637T	ASPM	NM_018136.5(ASPM):c.1615_1616del:p.Glu539fs	coding	Pathogenic
1	197142656	TATTA	T	A197142657C	ASPM	NM_018136.5(ASPM):c.1592_1595del:p.Val531fs	coding	Pathogenic
1	197143963	CT	C	T197143968C	ASPM	NM_018136.5(ASPM):c.434del:p.Lys145fs	coding	Pathogenic
1	197146147	CACGAAACAGCGCTGCG	C	G197146150A	ASPM	NM_018136.5(ASPM):c.275_290del:p.Ser92fs	coding	Pathogenic
1	197146360	G	GC	G197146365C	ASPM	NM_018136.5(ASPM):c.77dup:p.Ala28fs	coding	Pathogenic
1	197268429	TTAAC	T	A197268432C	CRB1	NM_201253.3(CRB1):c.20_23del:p.Asn7fs	coding	Pathogenic
1	197268477	TA	T	A197268482G	CRB1	NM_201253.3(CRB1):c.71del:p.Asn24fs	coding	Pathogenic/Likely_pathogenic
1	197268527	CTTA	C	T197268532A	CRB1	NM_201253.3(CRB1):c.70+50_70+52del	noncoding	Benign
1	197328404	C	CT	A197328410T	CRB1	NM_201253.3(CRB1):c.71-13dup	noncoding	Benign
1	197328461	AT	A	T197328463C	CRB1	NM_201253.3(CRB1):c.112del:p.Ser38fs	coding	Pathogenic
1	197328484	TGC	T	G197328485A	CRB1	NM_201253.3(CRB1):c.134_135del:p.Thr44_Cys45insTer	coding	Pathogenic
1	197344294	A	AT	G197344297T	CRB1	NM_201253.3(CRB1):c.668dup:p.Leu223fs	coding	Pathogenic
1	197344356	T	TG	C197344362G	CRB1	NM_201253.3(CRB1):c.733dup:p.Ala245fs	coding	Pathogenic
1	197344397	G	GA	T197344399A	CRB1	NM_201253.3(CRB1):c.770dup:p.Asp257fs	coding	Pathogenic
1	197344422	AGT	A	T197344426C	CRB1	NM_201253.3(CRB1):c.798_799del:p.Ala267fs	coding	Pathogenic
1	197344481	A	AT	C197344486T	CRB1	NM_201253.3(CRB1):c.848+9dup	noncoding	Benign
1	197344481	AT	A	T197344485C	CRB1	NM_201253.3(CRB1):c.848+9del	noncoding	Benign
1	197347452	GACAAT	G	A197347453T	CRB1	NM_201253.3(CRB1):c.962_966del:p.Asp321fs	coding	Pathogenic
1	197356918	CAGAG	C	G197356920A	CRB1	NM_201253.3(CRB1):c.1078_1081del:p.Glu360fs	coding	Pathogenic
1	197421164	A	AC	A197421168C	CRB1	NM_201253.3(CRB1):c.1339dup:p.His447fs	coding	Pathogenic
1	197421440	C	CCTTA	T197421441C	CRB1	NM_201253.3(CRB1):c.1612_1613insCTTA:p.Leu538fs	coding	Pathogenic
1	197421486	AG	A	G197421488T	CRB1	NM_201253.3(CRB1):c.1660del:p.Val554fs	coding	Pathogenic
1	197421568	T	TACCTTAATCGACG	T197421584C	CRB1	NM_201253.3(CRB1):c.1743_1755dup:p.Ser586fs	coding	Pathogenic
1	197421658	CT	C	T197421659C	CRB1	NM_201253.3(CRB1):c.1831del:p.Ser611fs	coding	Pathogenic
1	197421681	TG	T	G197421684A	CRB1	NM_201253.3(CRB1):c.1856del:p.Gly619fs	coding	Pathogenic
1	197421722	AATATGCCATCCAC	A	T197421724C	CRB1	NM_201253.3(CRB1):c.1896_1908del:p.Met633fs	coding	Pathogenic
1	197421798	ACATCTCGTCTGGCTCAT	A	C197421802T	CRB1	NM_201253.3(CRB1):c.1974_1990del:p.Ser659fs	coding	Pathogenic
1	197421945	AC	A	C197421946T	CRB1	NM_201253.3(CRB1):c.2118del:p.Cys707fs	coding	Pathogenic
1	197427473	TG	T	G197427475C	CRB1	NM_201253.3(CRB1):c.2150del:p.Gly717fs	coding	Pathogenic
1	197427826	GCCTA	G	A197427830G	CRB1	NM_201253.3(CRB1):c.2505_2508del:p.Pro836fs	coding	Pathogenic
1	197427864	TTC	T	C197427866T	CRB1	NM_201253.3(CRB1):c.2541_2542del:p.Phe848fs	coding	Pathogenic
1	197427894	C	CT	A197427896T	CRB1	NM_201253.3(CRB1):c.2570dup:p.Asn858fs	coding	Pathogenic
1	197427954	G	GTT	C197427957T	CRB1	NM_201253.3(CRB1):c.2630_2631dup:p.Leu878fs	coding	Pathogenic
1	197427969	AC	A	C197427972A	CRB1	NM_201253.3(CRB1):c.2647del:p.Gln883fs	coding	Pathogenic
1	197429615	G	AA	G197429615A	CRB1	NM_201253.3(CRB1):c.2842+1delinsAA	coding	Pathogenic
1	197434803	CAG	C	G197434805A	CRB1	NM_201253.3(CRB1):c.2942_2943del:p.Arg981fs	coding	Pathogenic
1	197434996	CT	C	T197434997G	CRB1	NM_201253.3(CRB1):c.3134del:p.Leu1045fs	coding	Pathogenic
1	197435005	AC	A	C197435007T	CRB1	NM_201253.3(CRB1):c.3144del:p.Ser1049fs	coding	Pathogenic
1	197435186	C	CT	A197435189T	CRB1	NM_201253.3(CRB1):c.3325dup:p.Tyr1109fs	coding	Pathogenic
1	197435187	TTA	T	T197435188C	CRB1	NM_201253.3(CRB1):c.3325_3326del:p.Tyr1109fs	coding	Pathogenic
1	197435255	ATTCAGTGGTCACTGGCTGTTTGCAGTTAAATGTCTGCAACTCCAACCCCTGTTTGCATGGAGGAAACTGTGAAGACATCTATAGCTCTTATCATTGCTCCTGTCCCTTGGGATGGTCAGGGAAACACTGTGAACTCAACATCGATGAATGCTTTTCAAACCCCTGTATCCATGGCAACTGCTCTGACAGAGTTGCAGCCTACCACTGCACATGTGAGCCTGGATACACTGGTGTGAACTGTGAAGTGGATATAGACAACTGCCAGAGTCACCAGTGTGCAAATGGAGCCACCTGCATTAGTCATACTAATGGCTATTCTTGCCTCTGTTTTGGAAATTTTACAGGAAAATTTTGCAGGTGAGCATAAAGTCCATATGAAGCTTGGTCTTTGAAGCTATACTCTGCATCACTGTTCTTGTCAAATTGGAAAGCTCTCTCCTCAAGGTATACATATATACTGTGCTGAACAGGGTGACACTGGTAGCTTCTGTCACAATTTGGTCATGTTCAGATGGGATCTCACTTACCAGGATATTCTACAGGTCAGAAAGGTAGTGTTTAAATCAGATTTTCAGCAAAATATTTTCTCAGTCATCTGTGTGAAAATATGTCTCATGAACTGTAGCCCCAGGGTCTAACAGTTTCAAGGCCTCGGGAAACAAATGCATTTACAATAAATGCAAAAGCTGAAATGTAGTATTGTTAGGGAAGGCATGACTTCTATTGCTAAAATAATGCCTTGAGCTATTTCAGGCAGGTAAATACTCTAAAATCCCGAAAACAGTACATTAAAGTATACAGCTGACTCTTGAACAACGCAGGGGTTAGAGGTGCTGATGTGCAGTTGAAAATCCACATTTAACTTTTAACTCTCCCAAAACATAACAACTATCAGCCTGGTTGACCACAAACCTTAACAATAACATAGTCAATTAACACATATTTTGTATGTCATATTCTGTCTTCTTACTATAAAGCAAGCTAGAGAAAATAAAATGTTATTAAGAAAATCATAGGAAAGAAAAAATAAATTTACTATTCATTAGTGGAAATTGATCATCAAAGATCTTTATCTTGATTGTCTTCATGTTGATTAGGATGAAGAGGAAGAGAAGGGGTTGGTTTTGCTGTCTCAGTGGTGGCAGAGGTGAAAGAACATCCACATATAAGTGAATCCACACCATTCAAACATGTGTTGTTCAAGGGTCAACTGTAATTTCAAAACAGTGGAATTATAATTCTCAGACAAATATAAAATAAACATGTTTTAATTATTCTGTCATTAATGAGGAAACTAGTAAGATATAAAAACTAATTCAAAGGACAATCTAAAGAATATGTATACGTATATATACAAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACAACTACAAAAGCAGTATTTTAGTTCTTGTAACTACCTCCATTTCAAGCTATATAAACAGAGATAAGAAAGACTATTTTTCTTCTAAGTCACATTGCTTCAGTATTTCCATGTAAGAAGTTATTATTGTTTTTACAACTTACACCGCTTTAAATTTACTAAATAATTGAGTCATTATGGGGAGGTGAGAGGGTTATTATTAACAAGTAATACATTCCAGAACTTCGGCAAGAACACCTGGAATGGGTTGGCAGCCTGTAGACATTACACTAATTCAGAGGTGGTACCTTAATTGCATGAATCTCCTAGCAAACATAACATGTAGGCATACCTATAAGAAGTTGTACATCTCTCCTTAACAGTTACTGTTCTGAGCCTGTGAAAGCAAGGCACTGTTGTAGGTGCTAAGTGTTCCCAACAGGTAACCTGCCTGTTTAAAAGCAAGAAGAATTCAGGATCAAATTTAGTATATTTCACTGTGAATTTTGATAAGTAAAATAAACACATAGGCCCTAGTAACTACTTCTCCAGAATTTTTTTCTGCCTAATTCATTAAAGTCAAGTTCTGAAAGATGAAAGCCCTCAAAAATACCTTCTAATGAGATTCAGGAATTGTTTATTAAAACCAAGATGTATACAAAGCTTCATATTTGCATTGCTAATTGACCTCTTTCAAAGCTGGTTGACATTTTTGGCTCTTTTGAAAAGTCTTTATGATATCCTTCTTTTTAAAGTAGAATTGATTAGCTCTTGCGGGAAGAGACACACTTAGCATCATATAAGCTAGTCTATCCACATTAGCTGCAGCACACACAACAGAACAAAATTCAATTCATTTTACACTTCCTGAATATTTATTAGTTATCTGATACCATGCACATACACAGTGGGTCAAAGGGCCTAAGCAACACTATTAAACTCTTTAAATATCAGTCCCTTCACATTACTAGATTTTGTCTTACAGTGAAGTTCCGCTTAGCTTCTAATACTTGTTCCGCCTTTTATGAGGATTCTTTAACATGTAAAGCTTTGTTGCCATATCAGAGAGCCACACTCTGAATTCACATGCAGTTACCATCGTGTGCTATATACAAAGCTCCTGGACAGCATTTGGCTTGCATTCTTCGAAGCTATGAATTATTACATAGGGAGCAGCAAGTCTTGGCAGGGCAACTGGAGTTCAGCTCTGAAAGCCAATAGAGAAATCACATGAGTGCTTGGGTAGTAGAGTGCTGTCCTTGCTTCCTGGCCTTTATAGAGATGCAATTTTCCTATGGCCTTTATTGATTTATTAGCAAAGCAGCAGCAAATCTAGTTATAGCAAGTTCTTTTCCAACCCAAAATTTATTGCCACCCCATGGCATAGATCTTATCTCACAAACGAAAACTGTGTAGAAATGGAAGATGTATAGCCATGCTTGTCACAGAACCCTCCAGCAGGAGCTTTTTACTGGAGAAAGTGATTCTTGCATAATGCAGCACAATTAAGCATTTGTAGCTCCTCCAGCCTGAGTACTTAATTAGCTTGGCATTGACTACATACATGAATTTATCAGAAAACTTTTCTTGAATGAGATGAACAAGATGAACAGCTGTGGCTCTTGCTTTTATCTCTCTAGACAGAGCAGATTACCCTCAACAGTCTGTGGGAATGAGAAGACAAATCTCACTTGCTACAATGGAGGCAACTGCACAGAGTTCCAGACTGAATTAAAATGTATGTGCCGGCCAGGTTTTACTGGAGAATGGTGAGTCACATTAGAGCCTTCTGGAAGAGAATTCTGAGCTAAAGAATGATGGGATTACTCAAAGTTCATTTTCTCCTCTAATTTTTTATCTCAGTTCCCATAGGAAAATCTATGCTGAAATAGAGGTTCAGACAGAATGAAACAATAAAAAAGAAGAAAAACTACAGTTTAGGTCAAAGGGGAGAACATTTTATTAGACAAAACTTCAAATAGGGAAAAATGATTTTTAAAAAATGTATAATGTGCTATTTTTCTTTCTTATAAGTACTTCTGAATTCATGTCTCTTTTTTGTTGCTAACTCTAATACATGATGCAAATATGGTTGCTGTCGAGGTAAAATAAATTACAACTAAAAGATTGCCTCATAGAATTGCCTACAACCCAAAAGTATATATACCTTATCCATATGAGTCTACTTTTCCCAGAGAAACTCTTCAACTGTTCTTCACCTCATACAGGAATTCTTAAAATGGAGTTGGTCAATGGCTTCAGGCAATCTGTGACCTGCTGAAAATACAGGAAAATTAGAATATGTATTTGAGTGGCTAGGGGTAAGTTCAGGGGTAGAAATAATGCATACTGAATAGCTTTTATCAGCTGCTTAAAGGGATTTATGTCCCCAAAACAGTTATGAACTGGGGCTCTATAGAATACAGATACTATATAAGCAGATAATTGTTAACCTTTTGTTTTAGCACTGTGCCATGCACCTTACAAATACCATCTCTAATTCTTATAGCTCTGTAAAGAAGGTTTCATGATTTTTATTTTGCATATGTGTAAACTGAGGCTGAGAGGTTGAGTGACGTATAAAGGGCCTATCCACACGTTTGCTGCAGTAAGGTTGAGCTGCCTTCAAAGCCTCTGCTCTTCTATTTGATGTGCCAGCATAACTGTATGAATAAATCTTTGCTCAACACAATTTCTTTTTTTTTAATGAGAAAGGTGTTCTTCCATCTCATGTATCATCGAGGGTAAGATAAGTGATCTCTGATCAAACTTCCTACATTGAAAAAATTAAATAAACTGAGCTCAGACATATTTGACAAAGATATTTTGACTGACTCAATATTTCCCATAAGCATAGTTAATAAAATAATGGATATGTGAGTGCTCCCTGGCAAGTGCCCTTTGGATTAATTGGAATTTTCTGTTTTCTAGCTGGCCTCTTTTGCATCACAAAGACACAGGTCTTTTGCCATTTTTACAAAACAGCGGGGAGTCTAGGGTATACCTGAATTTGACCCTTTTAACGTTCATTTTCATTTGCAGCCTGCCTTCTGTGGTTGGTTCTTTGTGGTACAGGCATTCCAAGTCTATATGTGCATGAAAGGAGATAGCCTTGAGTCACATTCTGCTTTCTGTTGCACCAATTTTGGTTCTGCAACTTATTAACTGAGATCGTTTAGTTGTATTCCAATTCCATGTATCTTTCAAAATATTGCAAATATTTTCTTGTCATTAATTTTGAGTAATCCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTT	A	C197435258T	CRB1	NM_201253.3(CRB1):c.3395_3879-490del	coding	Pathogenic
1	197435289	CT	C	T197435290G	CRB1	NM_201253.3(CRB1):c.3427del:p.Cys1143fs	coding	Pathogenic/Likely_pathogenic
1	197435402	A	AAT	G197435405A	CRB1	NM_201253.3(CRB1):c.3540_3541dup:p.Cys1181fs	coding	Pathogenic
1	197438655	GC	G	C197438657A	CRB1	NM_201253.3(CRB1):c.3860del:p.Pro1287fs	coding	Pathogenic
1	197442170	GA	G	A197442174G	CRB1	NM_201253.3(CRB1):c.3887del:p.Lys1296fs	coding	Pathogenic
1	197477794	ACAGCCC	A	C197477800G	CRB1	NM_201253.3(CRB1):c.4142_4147del:p.Pro1381_Ser1382del	coding	Pathogenic
1	198696693	A	AT	C198696698T	PTPRC	NM_002838.5(PTPRC):c.101-15dup	noncoding	Benign
1	198704452	A	AT	C198704461T	PTPRC	NM_002838.5(PTPRC):c.659-12dup	noncoding	Benign
1	198704452	AT	A	T198704460C	PTPRC	NM_002838.5(PTPRC):c.659-12del	noncoding	Benign/Likely_benign
1	198713398	T	TGAACTCATCATTTA	C198713411T	PTPRC	NM_002838.5(PTPRC):c.1291+338_1291+339insTAGAACTCATCATT	noncoding	Benign
1	198717985	AC	A	C198717990A	PTPRC	NM_002838.5(PTPRC):c.1451-104del	noncoding	Benign
1	198718265	T	TAA	G198718270A	PTPRC	NM_002838.5(PTPRC):c.1625_1626dup:p.Asp543fs	coding	Pathogenic
1	198722713	TAA	T	A198722714G	PTPRC	NM_002838.5(PTPRC):c.1720+238_1720+239del	noncoding	Benign
1	198729184	A	AT	G198729190T	PTPRC	NM_002838.5(PTPRC):c.1864+18dup	noncoding	Benign
1	198729229	T	TTTTA	A198729251T	PTPRC	NM_002838.5(PTPRC):c.1864+59TTTA[6]	noncoding	Benign
1	198735572	TC	T	C198735573A	PTPRC	NM_002838.5(PTPRC):c.2403+321del	noncoding	Benign
1	198742041	CAA	C	A198742052C	PTPRC	NM_002838.5(PTPRC):c.2561+26_2561+27del	noncoding	Benign
1	198742041	CA	C	A198742053C	PTPRC	NM_002838.5(PTPRC):c.2561+27del	noncoding	Benign
1	198748089	GT	G	T198748105C	PTPRC	NM_002838.5(PTPRC):c.2848-4del	noncoding	Benign
1	198748211	A	AT	A198748219T	PTPRC	NM_002838.5(PTPRC):c.2938+19dup	noncoding	Benign
1	198750474	C	CT	G198750482T	PTPRC	NM_002838.5(PTPRC):c.3073-11dup	noncoding	Benign
1	198754594	A	ATAAG	C198754600A	PTPRC	NM_002838.5(PTPRC):c.3645+192_3645+195dup	noncoding	Benign
1	200554390	C	CA	G200554402A	KIF14	NM_014875.3(KIF14):c.4567+67dup	noncoding	Benign
1	200575522	TACAC	T	C200575542T	KIF14	NM_014875.3(KIF14):c.3566+47GT[9]	noncoding	Benign
1	200575522	TAC	T	C200575544T	KIF14	NM_014875.3(KIF14):c.3566+47GT[10]	noncoding	Benign
1	200589158	GA	G	A200589168T	KIF14	NM_014875.3(KIF14):c.3114+58del	noncoding	Benign
1	200589522	A	AAATATCACTAGTCAAACTT	C200589523A	KIF14	NM_014875.3(KIF14):c.2962-154_2962-153insAAGTTTGACTAGTGATATT	noncoding	Benign
1	200606616	CTAAA	C	A200606623G	KIF14	NM_014875.3(KIF14):c.1607+126_1607+129del	noncoding	Benign
1	200606917	G	GA	C200606929A	KIF14	NM_014875.3(KIF14):c.1555-130dup	noncoding	Benign
1	200618845	G	GA	G200618856A	KIF14	NM_014875.3(KIF14):c.-115-17dup	noncoding	Benign
1	200663767	TAA	T	A200663782C	DDX59	NM_001031725.6(DDX59):c.972+150_972+151del	noncoding	Benign
1	201043468	C	CG	C201043475G	CACNA1S	NM_000069.3(CACNA1S):c.4860dup:p.Val1621fs	coding	Pathogenic
1	201043494	AG	A	G201043496A	CACNA1S	NM_000069.3(CACNA1S):c.4834del:p.Leu1612fs	coding	Pathogenic
1	201050419	GC	G	C201050421T	CACNA1S	NM_000069.3(CACNA1S):c.4210del:p.Ala1404fs	coding	Pathogenic
1	201051108	AG	A	G201051109T	CACNA1S	NM_000069.3(CACNA1S):c.3988del:p.Leu1330fs	coding	Pathogenic
1	201070301	GCTGGCTT	G	C201070306A	CACNA1S	NM_000069.3(CACNA1S):c.2324_2330del:p.Glu775fs	coding	Pathogenic
1	201070348	C	CTG	C201070349T	CACNA1S	NM_000069.3(CACNA1S):c.2283_2284insCA:p.Ala762fs	coding	Pathogenic
1	201073348	TCTG	T	C201073352T	CACNA1S	NM_000069.3(CACNA1S):c.2157+198_2157+200del	noncoding	Benign
1	201074174	GC	G	C201074177A	CACNA1S	NM_000069.3(CACNA1S):c.2063+331del	noncoding	Benign
1	201074717	ACT	A	T201074721C	CACNA1S	NM_000069.3(CACNA1S):c.1949-99_1949-98del	noncoding	Benign
1	201078083	AGCAGCACCCGGTTG	A	G201078087A	CACNA1S	NM_000069.3(CACNA1S):c.1401_1414del:p.Asn468fs	coding	Pathogenic
1	201083280	GC	G	C201083281A	CACNA1S	NM_000069.3(CACNA1S):c.1274del:p.Cys425fs	coding	Pathogenic
1	201083301	GTT	G	T201083302C	CACNA1S	NM_000069.3(CACNA1S):c.1252_1253del:p.Asn418fs	coding	Pathogenic
1	201085498	AG	A	G201085500T	CACNA1S	NM_000069.3(CACNA1S):c.1087del:p.Leu363fs	coding	Pathogenic
1	201091398	A	AGG	T201091405G	CACNA1S	NM_000069.3(CACNA1S):c.694+236_694+237dup	noncoding	Benign
1	201092076	TG	T	G201092078A	CACNA1S	NM_000069.3(CACNA1S):c.436del:p.Gln146fs	coding	Pathogenic
1	201111918	TTCC	T	C201111930T	CACNA1S	NM_000069.3(CACNA1S):c.152+258GGA[3]	noncoding	Benign
1	201112155	AC	A	C201112164A	CACNA1S	NM_000069.3(CACNA1S):c.152+32del	noncoding	Benign
1	201112254	CG	C	G201112258T	CACNA1S	NM_000069.3(CACNA1S):c.85del:p.Arg29fs	coding	Pathogenic
1	201112261	GC	G	C201112263T	CACNA1S	NM_000069.3(CACNA1S):c.78del:p.Arg26fs	coding	Pathogenic
1	201317486	GA	G	A201317496T	PKP1	NM_001005337.3(PKP1):c.847-76del	noncoding	Benign
1	201318667	T	TGCCGACGCCCTGCCTGTTCTGGCCGACC	G201318698C	PKP1	NM_001005337.3(PKP1):c.1107_1134dup:p.Val379fs	coding	Pathogenic
1	201359119	TG	T	G201359123T	TNNT2	NM_001276345.2(TNNT2):c.*90del	noncoding	Benign
1	201359178	AG	A	G201359180A	TNNT2	NM_001276345.2(TNNT2):c.*31del	noncoding	Benign
1	201369847	TG	T	G201369848A	TNNT2	NM_001276345.2(TNNT2):c.68-3del	noncoding	Benign
1	201369849	AG	A	G201369851T	TNNT2	NM_001276345.2(TNNT2):c.68-5del	noncoding	Benign
1	201369856	G	GGGAC	G201369860C	TNNT2	NM_001276345.2(TNNT2):c.68-12_68-11insTCCG	noncoding	Benign
1	201370060	TG	T	G201370063A	TNNT2	NM_001276345.2(TNNT2):c.68-216del	noncoding	Benign
1	201372051	AG	A	G201372052A	TNNT2	NM_001276345.2(TNNT2):c.53-11del	noncoding	Benign
1	201917641	TA	T	A201917644C	LMOD1	NM_012134.3(LMOD1):c.262-16891del	noncoding	Benign
1	202332745	A	AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTATTTATACATATATACTTTATACTATATATACTTAATTAACTGACAATAGTAGCAAACATTATACCTTTTGTTTCTGTCTTGCATGCTTCTCTGTCCACTGTCTGGCATTCTTGAGGAAGGCTGGCTTATTATATTTAAATTCTGAGGACTGAGATGAAATCAAAGAAAAGAGTTAATGGAGAAAAACATGATTTGCAGTGGTTAGAGCTGCTGCAGCTATCCTCACACAGGGAGAGTTAGCGGTATAGACAAGGTAGGATATGTGTTGCAGAGGAAAATGGGGATATTTACTATGTCAGCCATGAGCGGGTCATCAGGGTTGGGTTCTGACATGAGCAGCTGAATAGAGGTCAACACAGTTGCGATGTTGAGGGATGGTCTCCAAGCACCCTATATACAAACAGATGAACAGTTGCTTTTATATTAGAATGTGATCCTCTAATTCAAGTTTAATAGATGAAGAAAACAGAATGCTGTAGAGTCAACCATTTACCCACAACTCACTTTTGGTGGCAATTTGAGAACATCCAGACAAATCCTTCCAGCAGAATCAATGTTTGGATGATAAATTGGAGTGAGAAATCGGATCTGAGGAGGTTCAAATGGGTACCTATGAAAGAATAAGACAACAGATAATTTTCATTACATAATTTTGCTTCTAAATACATTTAAATAGTTTCTTGGTCACAATAATTTTGGTATTATAGAAATGTCAGGGAGACTGCCTTTGGGAGGCAAACTTTCTCTCTTCCTAAATTTTCACTATGAAAATTTAAAATAAATCAGTTTGAAATAACAGTATTGAAAACATCCATATATCTACCACCTGGATTCAAGCCACTTTACCTCTAAATACTCCAGCATATCTTCTAAGAATAAGAACATTCTCCCATATAAATGCAATACTATTACCCCTTTGAAAAATTTAAGAACTAATTCCCTAATATCATTTACTGTTCAGATTTCAGTTGTTCTCCCCAGTTTTTTTTTTTTATTGCTGGGTTTTTCAAAACAGGACCCAATTACAATTCATACGTTGCATTTGGTTATTATGTATCTTTAGTGAGACACCGACCTTGCAAAGTTCCCAGTCTATTTTTAGAACTGATGCACCACATGATTATTAAGCTGTTCTCCCAAGACTTTAACAAGTTTGGCCAGGATCTGACCTAGTGATTAGATGTCTATGTTTCAACTGTCAGATAGTCATTTCTTCCCTTCCCCGTTCTGTACAAAACTACAACTGTAACTCACCTGATGAGAGCCTTAAAGGAGACTTGAATTAAAAGGGGCCTTAACCATAAAAAGAACGAGATCATGGTCTTTGCAGGAACAGAAAGCCAAATACCACATGCTCTCATTTATAAGTGGGAGCTAAATGATGAGAACATATGGACACAAAGAGGGGAACGACAGACACTGGGGCCTACCTGAGGGTGGAGGGTGGGAGGACAGAGAAGGGCAAAACTACTGGATACTAGGCTTAGTACCTGGGTGACAAAATAATCTGTACAACAAATCCCCGTGATATCATGAGTTTACCTATATAACAAACTTGCACATGTACCCCGGAACCTAAAATAAATGTTAAAAGAAAAAGCCGGGGGGAGCTTAATGTTAAGAAAGCACAATAGTGGTTGCCAGGGGCTGAGAGCGGGGAGAAATGGGGAGTTAGAGTTTAATGGCTATGAAGTTTCAGTGTAGGAGGATGAAAAGTTCTGGAGATAAATGTTGGTGATGGTTGCATAACAATGTGAATGTATTTAATACCACTGAACTGTACACTTAAAAATGGTCAACTTTATGTTATGTATATTTTATCACAATTTAGAAAGTGAGGGGGTCTTTGATGTGATCTCGCCCATTGTTCTGGAGAAGGAAACTGAACTCCAGAGAGAGAAAATAACTTGGTCGAGGTCACCTTAAGTCATGATAAGGCCAGGATTAAAACCTAGTCCTTTATGCTCTATCTACTACATTGCTCTGTCTCCCAATTTATAAATGCACTTCACCATGTAGGTTGAGAAGCTGATTCATACTAACCTCTCAGGAATGATAACTTCTAGCTTAAAAACACCTTTCTCATAAGGTGTGTTGGCTCCACCTAATATTTCTTAAAAGAAAAAAGAAAGAAAAAGTTAAAAGGGAATCAGATCATTTGAATTACTACCATATGGAGCTAATGAGGTCTATGGTCCTAATAGAGAAACTAGGCCTAGGACAATAATTCTCTGCCAGGACTTTAACAAGTCCTCATGCAACACACCACAATGCTAATGTACTCAAAAAGTTAATGGTGTCAAACAAAGGACATATAGAAAATCTAAAGCAGAAGTTGCAAAATGCTGGCCACAAGACCAAATACAACCTATAGATTTGTTTTGTTTGGACCG	C202335339A	UBE2T	NM_014176.4(UBE2T):c.110-280_468+264dup	noncoding	Pathogenic
1	202333252	C	CG	T202333256G	UBE2T	NM_014176.4(UBE2T):c.368dup:p.Leu124fs	coding	Pathogenic
1	202596619	AAAAC	A	A202596622G	SYT2	NM_177402.5(SYT2):c.*134_*137del	noncoding	Benign
1	202596825	GC	G	C202596827T	SYT2	NM_177402.5(SYT2):c.1191del:p.Arg397fs	coding	Pathogenic
1	202596920	CCCAGCTTGTCATAGT	C	T202596926A	SYT2	NM_177402.5(SYT2):c.1082_1096del:p.Asp361_Leu365del	coding	Pathogenic
1	202597137	C	CT	G202597141T	SYT2	NM_177402.5(SYT2):c.1054-177dup	noncoding	Benign
1	202601965	C	CT	A202601969T	SYT2	NM_177402.5(SYT2):c.725dup:p.Val243fs	coding	Pathogenic
1	202602977	GCC	G	C202602983A	SYT2	NM_177402.5(SYT2):c.465+20_465+21del	noncoding	Benign/Likely_benign
1	202746116	G	GA	T202746125A	KDM5B	NM_006618.5(KDM5B):c.2198+25dup	noncoding	Benign
1	202755354	AG	A	G202755356A	KDM5B	NM_006618.5(KDM5B):c.1454del:p.Pro485fs	coding	Pathogenic
1	202945186	T	TA	C202945195A	ADIPOR1	NM_015999.6(ADIPOR1):c.431-18dup	noncoding	Benign
1	204155242	AC	A	C204155247A	REN	NM_000537.4(REN):c.1060-66del	noncoding	Benign
1	204156336	TCAGA	T	C204156361A	REN	NM_000537.4(REN):c.819-45TCTG[6]	noncoding	Benign
1	204156336	T	TCAGA	A204156365C	REN	NM_000537.4(REN):c.819-45TCTG[8]	noncoding	Benign
1	204156336	T	TCAGACAGA	A204156365C	REN	NM_000537.4(REN):c.819-45TCTG[9]	noncoding	Benign
1	204156336	T	TCAGACAGACAGA	A204156365C	REN	NM_000537.4(REN):c.819-45TCTG[10]	noncoding	Benign
1	204156336	T	TCAGACAGACAGACAGA	A204156365C	REN	NM_000537.4(REN):c.819-45TCTG[11]	noncoding	Benign
1	204161089	C	CT	G204161097T	REN	NM_000537.4(REN):c.373+196dup	noncoding	Benign
1	204161364	CTT	C	T204161366G	REN	NM_000537.4(REN):c.299_300del:p.Lys100fs	coding	Pathogenic
1	204161932	TGA	T	A204161934T	REN	NM_000537.4(REN):c.249+79_249+80del	noncoding	Benign
1	204190409	T	TTG	C204190410T	KISS1	NM_002256.4(KISS1):c.*74_*75insCA	noncoding	Benign
1	204190413	CG	C	G204190414C	KISS1	NM_002256.4(KISS1):c.*70del	noncoding	Benign
1	204190416	C	CA	C204190417A	KISS1	NM_002256.4(KISS1):c.*67_*68insT	noncoding	Benign
1	204190474	A	ACCTGCGCCCTCAGCCCCGCC	A204190496C	KISS1	NM_002256.4(KISS1):c.407_*9dup:p.Gly136_Ter139=	noncoding	Benign
1	204196481	CA	C	A204196483G	KISS1	NM_002256.4(KISS1):c.-145del	noncoding	Benign
1	205059695	A	AG	A205059699G	CNTN2	NM_005076.5(CNTN2):c.797+16dup	noncoding	Benign
1	205072097	G	GC	A205072100C	CNTN2	NM_005076.5(CNTN2):c.2697dup:p.Ser900fs	coding	Pathogenic
1	205072522	CA	C	A205072524G	CNTN2	NM_005076.5(CNTN2):c.2773del:p.Ser925fs	coding	Pathogenic
1	205145663	GGATTACTGGTGCGTGCCAGCATGCCCGGCTAATTTGCAACTCATCTTATACACCTACCTGGGGACCTGTTTTACAAACTCTCGGGCTGAACACAGGGGCCAGACCACAGTTATTGGGGATTAGGCAGATGGAGGGAGACTACTCACTTCCACTGTCTACTTCCTCGTCTACCTGTTTTTCGGAATCTAATGGACCAGTTTGGTTGAGGAAGGCTTGAAGTCAAGTGCATCTGAGATGCACCAATATTTAAATTGTTCCCCTTCCTCTGCCTAGAATCAGAATTTCTTTCCTCAAGCACACTTCATGAGGAACCCTCCAAAAGACCACCCACCCGCCTCCCACCTTTCAGGGAAACTTCCCAGACACTAGCACACAGGGGTGAGGGGCACACACAGAACTACCAGAGGAGGGTTTTTCTCTTTCGTCTGCTGCTTTTTTTCTTCTAACAGATTTTTAAAAAGGTAAAAAGAAGGAACAAATTGCGGGAGAAATCGTGGTTAAAAGCTCATTGATCAAGTTTTCCAAACGTCAGTGTGTTAGATTCAAACACAAAAAGAAAAATTTCTGATTGTGTTAAGTTTTAAAAACAAGCTGGTTTTCTTCCAGTATGTTTGTACATAGGCCATGGCCTCCAATCATCTCCCACCTCTCAGTTCTCACCCAAATACTTCGCATTGGGTTGGTTTTGCTTAGACACTCACTCCTAAGTACCATGTTATCTGGAGCTTTCCCACTTTGAGATGAAAAGAGGTAAACAAAAGAAAAGACTCAAAGGTAAAAGAACAGATTCTGTTCTGGGGTTAGCAGTAACTCTAAATCCAATAACTCCTGTGTGTATGTCTATATAGATAGAGATATAGACACACACACATATATACATATACACACAAATATATGCATACACATTCTATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTATCTTGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCTGGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCATGCCTGGCCTCTTTTTTTTTTTTTTTCCTCTTTTCAGGGCCTCTTGGTGATGTAACAGTGAAACCCTCCCCCAGAAACCAGGGATATGTGGTCCTATAAATGTAAACACACTGGCACTATGAGGAACAGATAGCTCTGTTTCTAGCTCCCTCACTGGGACTTCTGACCATTGCAACCTGAGATACCTGGCTGCAGACAGCAGGAACCAGACATCCACAAGTTATTGTTTTTGTCCCCATGTTTTCATAATCCCAGAACTAAGCTCAAATTTTCTGAGTCCTGACTAAACTATTCCTAGCTAGAGCCAAAAATCATGAGAATGAGATTTTTTAACACTATTGCCACTGCAGTGTCCCGCTTGCTGTCTTAGAAGTATATACAGTGAAAAGACAATGGTAACATCTGCCTCCTTTTCATTTGTGAAGCCAGAACACCACATTCCTCAGCTTTTACACATCTGAGACACTTTTTTGCTAAAGGGATAGCTTGGCGCTTCAGTGAGCTGCTGAATATGCTCAGTCATTCAACTCTTCACTGTCCAGGAGTCATCCCTGCCTGGGAAGGTTCCAAGTTTCCCAGCAAGCACCAGTTCCCTTGGGAGTGTGTCCTATAGTGAATAAATGTCAAATTCTCCCCATGGCCAAAAGGTGAGGGGGAAGGAAATAACTAGAGAGTGAAAGAGAAAGGTCTTTGCTTTCAAGTAGAATCATCTAGTCCTCTGTTTGGCTGCTCAGAATTGGACTTGCAGAGCCGATTCATGATGCCCTGGAGCATGGGCTGGACAATGCCCAAGAGAGGCCTCTTCAAGGGGTCGCCATCCCAACAGGCTTCCATCAACTGCCAGCACTCCTCATCAAACACAGGAAGACGTTCTGGGCGAGCCCCTAGAGAAAGGAGCATGGAAACAAGATCACAGTGAGAGGGACCCAGCACAACAAAGAGGCATGACCAGCTCAAAGGCTGACTTCCCAGTGGGGCTCAGAATACTAAGAATGCAAGGAGTTTTGACTTCGATTGCAAACATCTAGGTTAGAACCTAACAGTAAGAGCAATTAAAAAAAAAAAGAAAGAAAGAAAAAGAAAAGAAAAACTGGAACACATTAGCATATGAAGTTGAAGAATCGGACATTTTTTAAAAAAGACTTTTCGAGATAGTTCAATAGAGAGTTGACTTGAAGCAAAGGTTGACTTAAATATCTTTTCTGGATTCATGACAGTTTAAACGTATCTACGGCCCTGCTATGGAGTGGCCAGATGGGATGACAGGAGACCCGGTGACATTGCCTGGGCTCAGTCTGCGCTAGCCAGGGGAGTTAGGACAAGGTAGTACTTGTGGCTCTTACCCCTCCGCACATTGTTCCAGAGATGGTCTTTGCTAGCACACCTCTCAAATGCCTCAGGGAGCTTGACAGAGCCTGAGCAGATATACCAGAAAAGAATTCCAAAAGCGTAGACATCCACGGAATTATCGTACTTCCCTGATGGCAAGAAAGGATGAAACGTAATGAGCCACAGAGAGTCAGGCAGCAGCATCTACACCACCTTGCCTCAGTAGAGGGTTGGCTTTTTCCAAAGCTTTTAACAACTATTATCTCTCAATAACAACCCTGCCAGGTAGGCAGGGTACATTTATAATGCCCATTTTACAATACAATCAACTAAGACATTGGGAGGTCACAGCTCAATACTAAGAGAGCCAAGCCTAGAACTTGACAAAGGAGAAGGAAAATAAGGCCTTTCATTCTGCTAGGACAGTCAAAAAGATTAATCACAAAAGGTCATATTAGGGAAATAAAGTTGGAAATACAGGTGGGTAGGTATGTTGGAACCAGAATATAATAATTTTTAAAGTCAGGTAGAAGAGTCTGGATTCAGTGAGAAGCAGGAAGTCATTTATGTTTTAGAGTAGGAGGTGACATGAAGAATATAATATTTTAGAAAGATGATTCCAACAGCAATAGGGTGGACTGTAATAGAAACAATAAAAGAAATTTAAGTATGAAGTAGCCAAAATAGAATAACAGCAGTGGAATTAGAAAGTGTTTTTTTTTTTTTTTTGAGATGGAGTTTGACTCTTATTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTGCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCCTATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGGTAGTCTTGAACTCCTGACCTCAGGCGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGGATTACGACATGAGCCACCGCACCTGGCCGAAAGTTTTTTTTTTTTTAAGTAAATCAAGAGAAAGAAAAATGATGACTATCTACTTGGTTCAGATGTTGAGTACGACTACAGCTGTCTCACTAACACCTAATCCTTACATGTATCACCCAGTGAAGGGCTGGGGGAAGACTCGTACATGAAATGAAAGAAATTTAAATATATTGCTAATTTTAACTCTTACCAATACTAATGACTGACCAGGGACTACCTTTCTATCTTCGCTGGCAATGGAACAATCATTCCCATCACTTGGGCTCAAAACCGTGGAGTCATCTTTTAGTCATTCTTTTCTGTTCACTAACCATATCAAGTTAGCACCAAAATTTTGTTCATTCTTCCTCTGAATTAATCTCAAATTTCTCACGTTTGTTTGTTTTAGCACTAACACCAGCTTAATCATGGAGGCAACCATAGAAGACCAGCTATCTAGTCTTACCTTGGTTCTTCCCAAATCATCTTTACCTACTGTTGCTAAAGCTCATCTTCTATCAACATTTTCCTCTGTCCCCTACTCAAAAGCTCAGTAGCTCCTTAAGTCT	CCTCAAGGAGCAGGACTACA	G205145663C	DSTYK	NM_015375.3(DSTYK):c.2467+930_*1895delinsTGTAGTCCTGCTCCTTGAGG	noncoding	Pathogenic
1	205147915	T	TA	G205147927A	DSTYK	NM_015375.3(DSTYK):c.2603-181dup	noncoding	Benign
1	205150434	GC	G	C205150435A	DSTYK	NM_015375.3(DSTYK):c.2467+245del	noncoding	Benign
1	205161931	G	GAC	T205161943C	DSTYK	NM_015375.3(DSTYK):c.1818+95GT[6]	noncoding	Benign
1	205163219	A	AT	A205163231T	DSTYK	NM_015375.3(DSTYK):c.1558-224dup	noncoding	Benign
1	205163222	T	TA	T205163223A	DSTYK	NM_015375.3(DSTYK):c.1558-217_1558-216insT	noncoding	Benign
1	205308652	GCCGCTCGCTGATGTAGTCATA	C	G205308652C	NUAK2	NM_030952.3(NUAK2):c.412_433delinsG:p.Tyr138_Gln145delinsGlu	coding	Pathogenic
1	205797031	CA	C	A205797034G	SLC41A1	NM_173854.6(SLC41A1):c.993-29del	noncoding	Benign
1	206769903	GA	G	A206769907G	IL10	NM_000572.3(IL10):c.379-10del	noncoding	Benign
1	207100053	CAT	C	A207100054G	C4BPB	Single_allele	noncoding	Benign
1	207100053	CATGTGTGTGTGT	C	A207100054G	C4BPB	Single_allele	noncoding	Benign
1	207100053	CATGTGTGTGTGTGT	C	A207100054G	C4BPB	Single_allele	noncoding	Benign
1	207100054	ATG	A	G207100092A	C4BPB	Single_allele	noncoding	Benign
1	207100054	ATGTG	A	G207100090A	C4BPB	Single_allele	noncoding	Benign
1	207100054	ATGTGTG	A	G207100088A	C4BPB	Single_allele	noncoding	Benign
1	207100054	ATGTGTGTGTG	A	G207100084A	C4BPB	Single_allele	noncoding	Benign
1	207100084	GTGTGTGTGTA	G	A207100094G	C4BPB	Single_allele	noncoding	Benign
1	207100088	GTGTGTA	G	A207100094G	C4BPB	Single_allele	noncoding	Benign
1	207100094	ATG	A	G207100118T	C4BPB	Single_allele	noncoding	Benign
1	207114485	CT	C	T207114511G	C4BPA	NM_000715.4(C4BPA):c.328+226del	noncoding	Benign
1	207478968	TTTTTTG	T	T207478997A	CR2	NM_001006658.3(CR2):c.3089-288TTTTTG[4]	noncoding	Benign
1	207479249	AT	A	T207479254A	CR2	NM_001006658.3(CR2):c.3089-3del	noncoding	Benign
1	207757219	C	CT	C207757230T	CD46	NM_172351.3(CD46):c.286+27dup	noncoding	Benign
1	207757219	CT	C	T207757229C	CD46	NM_172351.3(CD46):c.286+27del	noncoding	Benign
1	207757219	CTT	C	T207757228C	CD46	NM_172351.3(CD46):c.286+26_286+27del	noncoding	Benign
1	207757602	T	TAC	G207757605A	CD46	NM_172351.3(CD46):c.350_351dup:p.Glu118fs	coding	Pathogenic
1	207759640	TATTACTTAATTGGTGAAGA	T	T207759642A	CD46	NM_172351.3(CD46):c.393_411del:p.Gly130_Tyr131insTer	coding	Pathogenic
1	207759658	GA	G	A207759661T	CD46	NM_172351.3(CD46):c.412del:p.Ile138fs	coding	Pathogenic
1	207759708	G	GC	A207759714C	CD46	NM_172351.3(CD46):c.464dup:p.Ile156fs	coding	Pathogenic
1	207761718	C	CAA	T207761731A	CD46	NM_172351.3(CD46):c.673+283_673+284dup	noncoding	Benign
1	207761718	C	CA	T207761731A	CD46	NM_172351.3(CD46):c.673+284dup	noncoding	Benign
1	207767158	CAG	C	A207767159T	CD46	NM_172351.3(CD46):c.820_821del:p.Ser274fs	coding	Pathogenic
1	207767629	A	AC	T207767632C	CD46	NM_172351.3(CD46):c.857-148dup	coding	Pathogenic
1	207785777	CTTTT	C	T207785788A	CD46	NM_172351.3(CD46):c.1082+106_1082+109del	noncoding	Benign
1	207785791	T	TAAA	T207785799A	CD46	NM_172351.3(CD46):c.1082+114_1082+116dup	noncoding	Benign
1	207785791	T	TAA	T207785799A	CD46	NM_172351.3(CD46):c.1082+115_1082+116dup	noncoding	Benign
1	208054540	TG	T	G208054544A	PLXNA2	NM_025179.4(PLXNA2):c.2739-3del	noncoding	Benign
1	209616612	TTC	T	T209616617A	LAMB3	NM_000228.3(LAMB3):c.3239_3240del:p.Arg1080fs	coding	Pathogenic
1	209617933	GA	G	A209617935G	LAMB3	NM_000228.3(LAMB3):c.3024del:p.Arg1009fs	coding	Pathogenic/Likely_pathogenic
1	209618488	CG	C	G209618489C	LAMB3	NM_000228.3(LAMB3):c.2872del:p.Arg958fs	coding	Pathogenic
1	209618667	A	AC	A209618669C	LAMB3	NM_000228.3(LAMB3):c.2702-9dup	noncoding	Benign
1	209622622	GTC	G	T209622625C	LAMB3	NM_000228.3(LAMB3):c.2613_2614del:p.Glu871fs	coding	Pathogenic
1	209623165	GGAGTTGCCACA	G	T209623169C	LAMB3	NM_000228.3(LAMB3):c.2362_2372del:p.Cys788fs	coding	Pathogenic/Likely_pathogenic
1	209623929	TC	T	C209623931A	LAMB3	NM_000228.3(LAMB3):c.2047del:p.Glu683fs	coding	Pathogenic
1	209623962	TC	T	C209623964A	LAMB3	NM_000228.3(LAMB3):c.2014del:p.Glu672fs	coding	Pathogenic
1	209625700	CG	C	G209625704C	LAMB3	NM_000228.3(LAMB3):c.1923del:p.Ala642fs	coding	Pathogenic
1	209625714	ACTGCTCGGAT	A	G209625721A	LAMB3	NM_000228.3(LAMB3):c.1900_1909del:p.Ile634fs	coding	Pathogenic
1	209625796	ACAGGCTGGCGGTGG	A	G209625799T	LAMB3	NM_000228.3(LAMB3):c.1814_1827del:p.Ala605fs	coding	Pathogenic
1	209625947	CA	C	A209625949G	LAMB3	NM_000228.3(LAMB3):c.1676del:p.Gly558_Leu559insTer	coding	Pathogenic
1	209625966	CA	C	A209625967G	LAMB3	NM_000228.3(LAMB3):c.1657del:p.Cys553fs	coding	Pathogenic
1	209625989	GC	G	C209625992G	LAMB3	NM_000228.3(LAMB3):c.1634del:p.Gly545fs	coding	Pathogenic
1	209627440	C	CT	G209627442T	LAMB3	NM_000228.3(LAMB3):c.1427dup:p.Cys478fs	coding	Pathogenic
1	209627571	AGTCACAGCCT	A	T209627573C	LAMB3	NM_000228.3(LAMB3):c.1289-2_1296del	coding	Pathogenic
1	209629891	GT	G	T209629892G	LAMB3	NM_000228.3(LAMB3):c.977del:p.His326fs	coding	Pathogenic/Likely_pathogenic
1	209632737	CT	C	T209632738G	LAMB3	NM_000228.3(LAMB3):c.667del:p.Arg223fs	coding	Pathogenic
1	209634574	TAC	T	A209634577T	LAMB3	NM_000228.3(LAMB3):c.435_436del:p.Tyr146fs	coding	Pathogenic
1	209634588	C	CT	A209634591T	LAMB3	NM_000228.3(LAMB3):c.422dup:p.Thr142fs	coding	Pathogenic
1	209637971	AG	A	G209637974T	LAMB3	NM_000228.3(LAMB3):c.308del:p.Pro103fs	coding	Pathogenic/Likely_pathogenic
1	209638606	TGTGAG	T	T209638608C	LAMB3	NM_000228.3(LAMB3):c.221_225del:p.Pro74fs	coding	Pathogenic
1	209638635	CATTT	C	A209638636C	LAMB3	NM_000228.3(LAMB3):c.193_196del:p.Lys65fs	coding	Pathogenic
1	209638982	AG	A	G209638988C	LAMB3	NM_000228.3(LAMB3):c.184-335del	noncoding	Benign
1	209650076	CCA	C	A209650078G	LAMB3	NM_000228.3(LAMB3):c.69_70del:p.Ala25fs	coding	Pathogenic/Likely_pathogenic
1	209789716	TCC	T	C209789719A	IRF6	NM_006147.4(IRF6):c.1128_1129del:p.Glu377fs	coding	Pathogenic
1	209790652	TC	T	C209790654T	IRF6	NM_006147.4(IRF6):c.902del:p.Gly301fs	coding	Pathogenic
1	209792285	C	CCACA	G209792290C	IRF6	NM_006147.4(IRF6):c.647_650dup:p.Trp217fs	coding	Pathogenic
1	209795358	TC	T	C209795360T	IRF6	NM_006147.4(IRF6):c.439del:p.Glu147fs	coding	Pathogenic
1	209796352	G	GTT	A209796355T	IRF6	NM_006147.4(IRF6):c.373_374dup:p.Asn125fs	coding	Pathogenic
1	209796404	ACT	A	C209796405G	IRF6	NM_006147.4(IRF6):c.321_322del:p.Val108fs	coding	Pathogenic
1	209796634	A	AAC	A209796678C	IRF6	NM_006147.4(IRF6):c.175-124GT[22]	noncoding	Benign
1	209796634	A	AACAC	A209796678C	IRF6	NM_006147.4(IRF6):c.175-124GT[23]	noncoding	Benign
1	209796634	A	AACACAC	A209796678C	IRF6	NM_006147.4(IRF6):c.175-124GT[24]	noncoding	Benign
1	209796634	A	AACACACACAC	A209796678C	IRF6	NM_006147.4(IRF6):c.175-124GT[26]	noncoding	Benign
1	209796634	AAC	A	C209796676A	IRF6	NM_006147.4(IRF6):c.175-124GT[20]	noncoding	Benign
1	209796634	AACAC	A	C209796674A	IRF6	NM_006147.4(IRF6):c.175-124GT[19]	noncoding	Benign
1	209801183	CA	C	A209801204T	IRF6	NM_006147.4(IRF6):c.174+56del	noncoding	Benign
1	209801183	C	CAA	T209801205A	IRF6	NM_006147.4(IRF6):c.174+36_174+37dup	noncoding	Benign
1	209801183	C	CA	T209801205A	IRF6	NM_006147.4(IRF6):c.174+36dup	noncoding	Benign
1	209801227	AGAAGTCCTTTACCTTAAAAATGGTATTTTCCTCTTCTTGTTGAGGGCTAT	A	A209801229C	IRF6	NM_006147.4(IRF6):c.137_174+12del	noncoding	Pathogenic
1	209952919	CTTA	C	T209952924G	SYT14	NM_001146262.4(SYT14):c.61+168_61+170del	noncoding	Benign
1	210020855	A	ATG	A210020857G	SYT14	NM_001146262.4(SYT14):c.227-183_227-182insGT	noncoding	Benign
1	210020857	A	ATG	A210020873G	SYT14	NM_001146262.4(SYT14):c.227-181TG[8]	noncoding	Benign
1	210094038	T	TTAAC	T210094042C	SYT14	NM_001146262.4(SYT14):c.443-281_443-280insCTAA	noncoding	Benign
1	210159184	T	TA	T210159192A	SYT14	NM_001146262.4(SYT14):c.1355-230dup	noncoding	Benign
1	210161320	GTTAATT	G	T210161328A	SYT14	NM_001146262.4(SYT14):c.*280TAATTT[1]	noncoding	Benign
1	210362834	C	CT	G210362846T	HHAT	NM_018194.6(HHAT):c.92-7dup	noncoding	Benign
1	210684141	GGA	G	G210684158A	KCNH1	NM_172362.3(KCNH1):c.2113-21TC[8]	noncoding	Benign
1	210684141	G	GGA	A210684160G	KCNH1	NM_172362.3(KCNH1):c.2113-21TC[10]	noncoding	Benign
1	210797481	T	TG	C210797483G	KCNH1	NM_172362.3(KCNH1):c.1915+26dup	noncoding	Benign
1	210798040	C	CT	A210798058T	KCNH1	NM_172362.3(KCNH1):c.1663-297dup	noncoding	Benign
1	210798040	CT	C	T210798057A	KCNH1	NM_172362.3(KCNH1):c.1663-281del	noncoding	Benign
1	210798091	G	GT	G210798093T	KCNH1	NM_172362.3(KCNH1):c.1663-332dup	noncoding	Benign
1	211019264	GA	G	A211019269C	KCNH1	NM_172362.3(KCNH1):c.559-9del	noncoding	Benign
1	211107382	TAA	T	A211107395G	KCNH1	NM_172362.3(KCNH1):c.80-7_80-6del	noncoding	Benign
1	211107382	TA	T	A211107396G	KCNH1	NM_172362.3(KCNH1):c.80-6del	noncoding	Benign
1	211107382	T	TA	G211107397A	KCNH1	NM_172362.3(KCNH1):c.80-19dup	noncoding	Benign
1	211107395	A	AC	A211107396C	KCNH1	NM_172362.3(KCNH1):c.80-19_80-18insG	noncoding	Benign
1	211133863	T	TTACC	A211133868T	KCNH1	NM_172362.3(KCNH1):c.79_79+3dup	noncoding	Benign/Likely_benign
1	211481101	TC	T	C211481105A	RD3	NM_001164688.2(RD3):c.296+18del	noncoding	Benign
1	211481401	TGA	T	G211481404T	RD3	NM_001164688.2(RD3):c.13_14del:p.Ser5fs	coding	Pathogenic
1	212858475	AG	A	G212858480C	FLVCR1	NM_014053.4(FLVCR1):c.28del:p.Ala10fs	coding	Pathogenic
1	212858575	GC	G	C212858578A	FLVCR1	NM_014053.4(FLVCR1):c.126del:p.Ala44fs	coding	Pathogenic
1	212858590	CTTCCCGGTGAATG	C	T212858591G	FLVCR1	NM_014053.4(FLVCR1):c.139_151del:p.Phe47fs	coding	Pathogenic
1	212859006	GCCTGGGTGCCTGGATCAAGTGCGGCAGTGTGCAGCAGCATCTCTTCTGGGTCACCATGTTGGGCCAGTGCTTGTGCTCGGTGGCCCAGGTGTTCAT	G	T212859013C	FLVCR1	NM_014053.4(FLVCR1):c.561_656del:p.Ala188_Gly219del	coding	Pathogenic
1	212863817	GT	G	T212863821A	FLVCR1	NM_014053.4(FLVCR1):c.835del:p.Tyr279fs	coding	Pathogenic
1	212872736	TC	T	C212872741T	FLVCR1	NM_014053.4(FLVCR1):c.947del:p.Pro316fs	coding	Pathogenic
1	212887984	T	TA	C212887986A	FLVCR1	NM_014053.4(FLVCR1):c.1291dup:p.Thr431fs	coding	Pathogenic
1	212889215	A	AT	C212889221T	FLVCR1	NM_014053.4(FLVCR1):c.1488dup:p.Leu497fs	coding	Pathogenic
1	213117412	T	TAAG	G213117417A	RPS6KC1	NM_012424.6(RPS6KC1):c.472+4_472+6dup	noncoding	Benign
1	213167845	CT	C	T213167855A	RPS6KC1	NM_012424.6(RPS6KC1):c.836-3del	noncoding	Benign
1	214357735	GA	G	A214357742T	PTPN14	NM_005401.5(PTPN14):c.*186del	noncoding	Benign
1	214393670	CG	C	G214393677A	PTPN14	NM_005401.5(PTPN14):c.929+24del	noncoding	Benign
1	214400807	AGCCCTTTCTGAAAGCTGCGGCCACCCTGCTCGATTCTACTTGATGCACATGGGCAGTTCTCATTAAGGCAAATTGCAAACGTGCAACAGAGGGGGAACTGAACACTTATAAAACAGCCAGTGGAGCTAGTCTGGAGTGAAATGTTTGTGCTGAAATTGCAGGCATCTCCCAAATTGCTGAAATGTGCCAGTTGCTTTAGGTTTCTGATAAATCTCCATTTTTTGTAAAGTTGGTCAACAGAGAGTGGAAAATGAGTTTGGATGATGGGCTCAGCTCTATAAATGACTATGATCCATGACCCCCCCAACCACACCCACTTCAGGAGGTGGATGTGCTGCAAAGGATGTGATGTGCTATAGCAGTTTCCGAGGCATAGCTTCCATAAAACACCAAAGGGGCTAGGAACCCACAGGGGAGGGCCCTATAAAGCTGGAGAAATAAAGCATGATTGTATACAAGAAACGTTTCATTCTACCTCACAAACGATTATCCCTGTATTGGCTCAATGAAGAGAAAAAGAGAATAAGAAAACTACTGACTAGAGTCTTCATTAATGTTACACATGACATTGGCTACTTGTCCTGTTATAAGGCTGGATATCAGCCTTGATACCTCCAAGGTGCCGGATTGGCTGATGCTTGGTACTCACTTAGATGGACTGTCTTATTGAACTATTCTGCTGAGGACCATGGCAAACTTCAAAACGTCTTGGTTAAGAAAAAGCATTTGTTTATCTATAATAAATTGGACTTGCCAACTAAGGCTGCATAGCAAAAAGAAGGCCAAGCCATTCTGGCCCACTGCTATCAACAATGGTTTTCCAAATGCCAGTACCGGTCTGAGAAGGTTAAAGCCAGCACAGGGCACAGCATATTACCTTTACAGGGAAGATTTCCTGTCCAAATCCATCCAAACGTTCAACTTCATTGATGTACATCAGTTCAGCTTCTGCTGGCAGGATTCCACTAAAATCAAAATAGCATCAAAGGAAGAAATGGTTAAGGGCAGCCAGTGGAAGATCCCACTCTCCTGATGGCAAATTCCAGAGCTGTGGTTTAGCTCTAGTTTCTGGGAAGAGCAATCATTACCCAACTGTGAGGGTAGGGTGCATTACTAAGTAATTCATTGACATCTTTCCCAGTAGCCTTTTACTTAACAGCGAATAATAAGAGGAAGGTAAAGTATTTAATTAAGAGCCACAGCCCTGTAAACATGAAATCATTATTCCAGACATCCCTTCGAATATGTTGCCTACTTTAAAAAGAAGTTATTTTTCTCCCATCTGGGAGAAATCTTCATTATTAAAAAAAAAAAGGAAAAAGTTTATCATGAGGATAATATTTTGGGAGTCAAATGGCCGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGCATTTGAGATCAGCCTGGCCCACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGTGCCTGTAATCCCAGCTACTCGAGAGTCTGAGGCATGAGAATTGCTTGAACCCCGGAGGTGGAGGTTGCAGTGGACCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGCCACGATGAGAGAACTTAGGATCACTGCATAGGCCTCGATATCAAACTCCTGGTGCTTCCTTGAATTAAAGTTTCTCTCTTTTTCTTTCCTTCACCTGCCTACCACCCAACACAGCACTTTAGGTCTTCACTCTCTCAGCACAGGCTGTCTCAGGCTTCCCAGATTCTCTAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAAGGAAGGAACGGAGCAGTTTTCAAGTGGACATTCACTTTTGCAGAACGGAAGTACAGAGCTGAGTCACGTGGTGGAATAAATACAAGTGTGTTGGCTCAAGCCCAGAGTTGCTGATAGGGAGATGGATGCCTCCT	A	T214400812C	PTPN14	NM_005401.5(PTPN14):c.581+60_669+877del	noncoding	Pathogenic
1	214465040	CCCCCCCCCCCA	C	C214465045G	PTPN14	NM_005401.5(PTPN14):c.-154-94_-154-84del	noncoding	Benign
1	214614108	C	CT	G214614122T	CENPF	NM_016343.4(CENPF):c.162+205dup	noncoding	Benign
1	214614108	C	CTT	G214614122T	CENPF	NM_016343.4(CENPF):c.162+204_162+205dup	noncoding	Benign
1	214644705	CT	C	T214644706G	CENPF	NM_016343.4(CENPF):c.5136del:p.Gly1713fs	coding	Pathogenic
1	214648356	TA	T	A214648358T	CENPF	NM_016343.4(CENPF):c.7831-317del	noncoding	Benign
1	214651946	C	CT	C214651959T	CENPF	NM_016343.4(CENPF):c.8160+72dup	noncoding	Benign
1	214651946	C	CTT	C214651959T	CENPF	NM_016343.4(CENPF):c.8160+71_8160+72dup	noncoding	Benign
1	214652068	A	AT	G214652087T	CENPF	NM_016343.4(CENPF):c.8160+200dup	noncoding	Benign
1	214652068	A	ATTTTT	G214652087T	CENPF	NM_016343.4(CENPF):c.8160+196_8160+200dup	noncoding	Benign
1	214652068	AT	A	T214652086G	CENPF	NM_016343.4(CENPF):c.8160+200del	noncoding	Benign
1	214652068	ATT	A	T214652085G	CENPF	NM_016343.4(CENPF):c.8160+199_8160+200del	noncoding	Benign
1	214654965	T	TA	T214654969A	CENPF	NM_016343.4(CENPF):c.8323-273dup	noncoding	Benign
1	214656822	TA	T	A214656833T	CENPF	NM_016343.4(CENPF):c.8486-100del	noncoding	Benign
1	214658833	A	AT	G214658842T	CENPF	NM_016343.4(CENPF):c.8963-9dup	noncoding	Benign/Likely_benign
1	215625873	G	GA	T215625879A	USH2A	NM_206933.4(USH2A):c.15520-4dup	noncoding	Benign
1	215628867	CT	C	T215628870C	USH2A	NM_206933.4(USH2A):c.15465del:p.Val5156fs	coding	Pathogenic
1	215628939	T	TCC	T215628940C	USH2A	NM_206933.4(USH2A):c.15393_15394insGG:p.Thr5132fs	coding	Pathogenic
1	215634469	TC	T	C215634474G	USH2A	NM_206933.4(USH2A):c.15286del:p.Glu5096fs	coding	Pathogenic
1	215634512	GAGGT	G	G215634514C	USH2A	NM_206933.4(USH2A):c.15240_15243del:p.Pro5081fs	coding	Pathogenic
1	215634556	AT	A	T215634561C	USH2A	NM_206933.4(USH2A):c.15199del:p.Ile5067fs	coding	Pathogenic
1	215634630	C	CCA	G215634635C	USH2A	NM_206933.4(USH2A):c.15124_15125dup:p.Trp5042fs	coding	Pathogenic
1	215634650	CTG	C	T215634653C	USH2A	NM_206933.4(USH2A):c.15104_15105del:p.Thr5035fs	coding	Pathogenic
1	215634672	CTT	C	T215634673C	USH2A	NM_206933.4(USH2A):c.15082_15083del:p.Lys5028fs	coding	Pathogenic
1	215634675	CTTTTTCCCAGGAGTTGTT	C	T215634676A	USH2A	NM_206933.4(USH2A):c.15063_15080del:p.Thr5022_Lys5027del	coding	Pathogenic
1	215639175	TA	T	A215639176T	USH2A	NM_206933.4(USH2A):c.15031del:p.Tyr5011fs	coding	Pathogenic
1	215640624	CGGTTAACACGTACTCCTTCAGTTGGCCGTTCA	C	T215640627A	USH2A	NM_206933.4(USH2A):c.14870_14901del:p.Leu4957fs	coding	Pathogenic/Likely_pathogenic
1	215640640	C	CT	C215640643T	USH2A	NM_206933.4(USH2A):c.14885dup:p.Glu4963fs	coding	Pathogenic
1	215640668	T	TC	A215640670C	USH2A	NM_206933.4(USH2A):c.14857dup:p.Asp4953fs	coding	Pathogenic
1	215640686	ACC	A	C215640687A	USH2A	NM_206933.4(USH2A):c.14838_14839del:p.Val4949fs	coding	Pathogenic
1	215640688	CACAG	C	G215640692A	USH2A	NM_206933.4(USH2A):c.14834_14837del:p.Ser4945fs	coding	Pathogenic
1	215640690	CA	C	A215640691G	USH2A	NM_206933.4(USH2A):c.14835del:p.Val4946fs	coding	Pathogenic
1	215640694	CA	C	A215640697T	USH2A	NM_206933.4(USH2A):c.14831del:p.Leu4944fs	coding	Pathogenic
1	215640800	TA	T	A215640812T	USH2A	NM_206933.4(USH2A):c.14792-67del	noncoding	Benign
1	215640844	CA	C	A215640862G	USH2A	NM_206933.4(USH2A):c.14792-111del	noncoding	Benign
1	215640844	C	CA	G215640863A	USH2A	NM_206933.4(USH2A):c.14792-128dup	noncoding	Benign
1	215647529	TTGGGTGG	T	G215647532A	USH2A	NM_206933.4(USH2A):c.14777_14783del:p.Thr4926fs	coding	Pathogenic
1	215648622	AG	A	G215648625T	USH2A	NM_206933.4(USH2A):c.14487del:p.Ser4830fs	coding	Pathogenic
1	215648703	T	TGA	A215648704G	USH2A	NM_206933.4(USH2A):c.14406_14407insTC:p.Ile4803fs	coding	Pathogenic
1	215648706	AGT	A	G215648707A	USH2A	NM_206933.4(USH2A):c.14402_14403del:p.Tyr4801fs	coding	Pathogenic/Likely_pathogenic
1	215650625	C	CA	G215650627A	USH2A	NM_206933.4(USH2A):c.14309dup:p.Phe4771fs	coding	Pathogenic
1	215650629	C	CTGTA	G215650634T	USH2A	NM_206933.4(USH2A):c.14302_14305dup:p.Arg4769fs	coding	Pathogenic
1	215650645	TC	T	C215650648G	USH2A	NM_206933.4(USH2A):c.14289del:p.Ile4764fs	coding	Pathogenic
1	215650661	A	AG	C215650666G	USH2A	NM_206933.4(USH2A):c.14273dup:p.Gly4759fs	coding	Pathogenic
1	215650853	GA	G	A215650869G	USH2A	NM_206933.4(USH2A):c.14134-53del	noncoding	Benign
1	215650853	G	GA	G215650870A	USH2A	NM_206933.4(USH2A):c.14134-68dup	noncoding	Benign
1	215670994	G	GT	G215670995T	USH2A	NM_206933.4(USH2A):c.14110_14111insA:p.Pro4704fs	coding	Pathogenic
1	215671013	TA	T	A215671017G	USH2A	NM_206933.4(USH2A):c.14091del:p.Phe4697fs	coding	Pathogenic
1	215671017	AG	A	G215671018A	USH2A	NM_206933.4(USH2A):c.14087del:p.Ser4696fs	coding	Pathogenic
1	215671119	CT	C	T215671120G	USH2A	NM_206933.4(USH2A):c.13985del:p.Gln4662fs	coding	Pathogenic/Likely_pathogenic
1	215671161	TC	T	C215671163T	USH2A	NM_206933.4(USH2A):c.13943del:p.Gly4648fs	coding	Pathogenic
1	215671202	GCATCAAAGGTGCAATCT	G	T215671205G	USH2A	NM_206933.4(USH2A):c.13886_13902del:p.Glu4629fs	coding	Pathogenic
1	215674114	C	CAGCTGGTTTACTATATATGACTGCATACCAAAAGAATTATGAGTTGTGTTTATGTGTATGATTTT	T215674182C	USH2A	NM_206933.4(USH2A):c.13732_13796dup:p.Lys4600_Pro4601insSerTyrThrTerLys	coding	Pathogenic
1	215674168	GT	G	T215674169G	USH2A	NM_206933.4(USH2A):c.13742del:p.His4581fs	coding	Pathogenic
1	215674276	AG	A	G215674278A	USH2A	NM_206933.4(USH2A):c.13634del:p.Pro4545fs	coding	Pathogenic
1	215674311	CT	C	T215674312G	USH2A	NM_206933.4(USH2A):c.13599del:p.Met4535fs	coding	Pathogenic
1	215674314	AGG	A	G215674316T	USH2A	NM_206933.4(USH2A):c.13595_13596del:p.Pro4532fs	coding	Pathogenic/Likely_pathogenic
1	215674320	C	CT	G215674322T	USH2A	NM_206933.4(USH2A):c.13590dup:p.Ala4531fs	coding	Pathogenic
1	215674490	ATC	A	C215674492G	USH2A	NM_206933.4(USH2A):c.13419_13420del:p.Gln4473fs	coding	Pathogenic
1	215674523	GTGATTTCTATTGATTC	G	T215674527G	USH2A	NM_206933.4(USH2A):c.13372_13387del:p.Glu4458fs	coding	Pathogenic
1	215674608	TTGACACACTAGCTGTGC	T	T215674609A	USH2A	NM_206933.4(USH2A):c.13286_13302del:p.Gly4428_Cys4429insTer	coding	Pathogenic
1	215674614	CA	C	A215674615C	USH2A	NM_206933.4(USH2A):c.13296del:p.Ser4432fs	coding	Pathogenic
1	215674700	AG	A	G215674702C	USH2A	NM_206933.4(USH2A):c.13210del:p.Leu4404fs	coding	Pathogenic
1	215674779	GT	G	T215674780G	USH2A	NM_206933.4(USH2A):c.13131del:p.Pro4378fs	coding	Pathogenic
1	215674894	TC	T	C215674896A	USH2A	NM_206933.4(USH2A):c.13016del:p.Gly4339fs	coding	Pathogenic
1	215675108	G	GGA	C215675117G	USH2A	NM_206933.4(USH2A):c.12801_12802dup:p.Pro4268fs	coding	Pathogenic
1	215675212	CCA	C	C215675213T	USH2A	NM_206933.4(USH2A):c.12697_12698del:p.Trp4233fs	coding	Pathogenic/Likely_pathogenic
1	215675378	GGCTCAGACCA	G	A215675385C	USH2A	NM_206933.4(USH2A):c.12523_12532del:p.Trp4175fs	coding	Pathogenic
1	215675441	G	GA	G215675443A	USH2A	NM_206933.4(USH2A):c.12469dup:p.Ser4157fs	coding	Pathogenic
1	215675528	TAG	T	A215675533T	USH2A	NM_206933.4(USH2A):c.12381_12382del:p.Tyr4128fs	coding	Pathogenic
1	215675591	AACCCGTC	A	C215675594T	USH2A	NM_206933.4(USH2A):c.12313_12319del:p.Asp4105fs	coding	Pathogenic
1	215680278	AG	A	G215680281C	USH2A	NM_206933.4(USH2A):c.12164del:p.Pro4055fs	coding	Pathogenic
1	215680406	GT	G	T215680418G	USH2A	NM_206933.4(USH2A):c.12067-31del	noncoding	Benign
1	215727724	CA	C	A215727734T	USH2A	NM_206933.4(USH2A):c.12066+305del	noncoding	Benign
1	215728244	ACTGAACCCTTGGAGTTACAGGCT	A	A215728249C	USH2A	NM_206933.4(USH2A):c.11829_11851del:p.Arg3943fs	coding	Pathogenic
1	215728260	T	TCTGA	A215728261C	USH2A	NM_206933.4(USH2A):c.11835_11836insTCAG:p.Asn3946fs	coding	Pathogenic
1	215728279	T	TTC	G215728282T	USH2A	NM_206933.4(USH2A):c.11815_11816dup:p.Tyr3940fs	coding	Pathogenic
1	215728347	CAAAT	C	T215728351A	USH2A	NM_206933.4(USH2A):c.11745_11748del:p.Phe3916fs	coding	Pathogenic
1	215741536	TCCTTG	T	C215741537A	USH2A	NM_206933.4(USH2A):c.11549-4_11549del	coding	Pathogenic
1	215741536	TC	T	C215741538T	USH2A	NM_206933.2(USH2A):c.11549delG	coding	Pathogenic/Likely_pathogenic
1	215741541	GAA	G	A215741552T	USH2A	NM_206933.4(USH2A):c.11549-6_11549-5del	noncoding	Benign
1	215743208	CT	C	T215743209G	USH2A	NM_206933.4(USH2A):c.11516del:p.Gln3839fs	coding	Pathogenic
1	215743251	TG	T	G215743252A	USH2A	NM_206933.4(USH2A):c.11473del:p.His3825fs	coding	Pathogenic/Likely_pathogenic
1	215743318	T	TACAA	T215743319A	USH2A	NM_206933.4(USH2A):c.11406_11407insTTGT:p.Ile3803fs	coding	Pathogenic
1	215743320	T	TA	C215743321A	USH2A	NM_206933.4(USH2A):c.11404_11405insT:p.Glu3802fs	coding	Pathogenic
1	215743341	A	AAGAG	A215743361G	USH2A	NM_206933.4(USH2A):c.11390-24CT[11]	noncoding	Benign
1	215743341	AAG	A	G215743359A	USH2A	NM_206933.4(USH2A):c.11390-24CT[8]	noncoding	Benign
1	215743371	C	CATATATATAT	G215743388A	USH2A	NM_206933.4(USH2A):c.11390-52AT[13]	noncoding	Benign
1	215743371	C	CATATAT	G215743388A	USH2A	NM_206933.4(USH2A):c.11390-52AT[11]	noncoding	Benign
1	215743408	G	GTATATATA	G215743410A	USH2A	NM_206933.4(USH2A):c.11390-74_11390-73insATATATAT	noncoding	Benign
1	215743416	G	GTA	G215743429T	USH2A	NM_206933.4(USH2A):c.11390-93TA[7]	noncoding	Benign
1	215743416	G	GTGTA	A215743418G	USH2A	NM_206933.4(USH2A):c.11390-82_11390-81insATAC	noncoding	Benign
1	215743416	G	GTGTGTA	A215743418G	USH2A	NM_206933.4(USH2A):c.11390-82_11390-81insATACAC	noncoding	Benign
1	215743429	GACACACA	G	A215743430T	USH2A	NM_206933.4(USH2A):c.11390-101_11390-95del	noncoding	Benign
1	215758580	C	CT	A215758593T	USH2A	NM_206933.4(USH2A):c.11389+3dup	noncoding	Benign
1	215758580	C	CTT	A215758593T	USH2A	NM_206933.4(USH2A):c.11389+13_11389+14dup	noncoding	Benign
1	215758580	CT	C	T215758592A	USH2A	NM_206933.4(USH2A):c.11389+14del	noncoding	Benign
1	215758580	CTTT	C	T215758590A	USH2A	NM_206933.4(USH2A):c.11389+12_11389+14del	noncoding	Benign
1	215758688	GAACAATGT	G	C215758691T	USH2A	NM_206933.4(USH2A):c.11288_11295del:p.Tyr3763fs	coding	Pathogenic
1	215759701	CT	C	T215759702C	USH2A	NM_206933.4(USH2A):c.11189del:p.Glu3730fs	coding	Pathogenic/Likely_pathogenic
1	215766745	AC	A	C215766746A	USH2A	NM_206933.4(USH2A):c.10982del:p.Cys3661fs	coding	Pathogenic
1	215779823	C	CT	G215779833T	USH2A	NM_206933.4(USH2A):c.10939+19dup	noncoding	Benign
1	215779823	CT	C	T215779832G	USH2A	NM_206933.4(USH2A):c.10939+19del	noncoding	Benign
1	215779910	CTGG	C	G215779912A	USH2A	NM_206933.4(USH2A):c.10869_10871del:p.Tyr3623_Gln3624delinsTer	coding	Pathogenic
1	215782088	T	TATGA	A215782095G	USH2A	NM_206933.4(USH2A):c.10690_10693dup:p.Tyr3565fs	coding	Pathogenic
1	215782155	GT	G	T215782157C	USH2A	NM_206933.4(USH2A):c.10626del:p.Glu3542fs	coding	Pathogenic
1	215782390	T	TAA	G215782393A	USH2A	NM_206933.4(USH2A):c.10586-196_10586-195dup	noncoding	Benign
1	215782744	AT	A	T215782746G	USH2A	NM_206933.4(USH2A):c.10578del:p.Gln3526fs	coding	Pathogenic
1	215782787	A	ATTGTCTATTTTGGTCCACGTAGGGGGACTCACTC	C215782822T	USH2A	NM_206933.4(USH2A):c.10502_10535dup:p.Asn3512fs	coding	Pathogenic
1	215782945	G	GA	T215782952A	USH2A	NM_206933.4(USH2A):c.10388-11dup	noncoding	Benign
1	215786675	TAA	T	A215786676G	USH2A	NM_206933.4(USH2A):c.10380_10381del:p.Tyr3461fs	coding	Pathogenic
1	215786706	T	TG	T215786709G	USH2A	NM_206933.4(USH2A):c.10350dup:p.Ile3451fs	coding	Pathogenic
1	215786742	AT	A	T215786743G	USH2A	NM_206933.4(USH2A):c.10314del:p.Ser3439fs	coding	Pathogenic
1	215790143	CTT	C	T215790145G	USH2A	NM_206933.4(USH2A):c.10096_10097del:p.Lys3366fs	coding	Pathogenic
1	215790169	AT	A	T215790173A	USH2A	NM_206933.4(USH2A):c.10071del:p.Lys3357fs	coding	Pathogenic
1	215798898	GC	G	C215798902T	USH2A	NM_206933.4(USH2A):c.9958+8del	noncoding	Benign
1	215798983	G	GA	C215798984A	USH2A	NM_206933.4(USH2A):c.9881_9882insT:p.Cys3295fs	coding	Pathogenic
1	215798991	GGCCATGGCCATCAT	G	C215798993A	USH2A	NM_206933.4(USH2A):c.9860_9873del:p.His3287fs	coding	Pathogenic
1	215813761	A	AT	G215813762T	USH2A	NM_206933.4(USH2A):c.9713_9714insA:p.Gly3239fs	coding	Pathogenic
1	215813863	ATGTCCAGGCT	A	T215813866G	USH2A	NM_206933.4(USH2A):c.9602_9611del:p.Lys3201fs	coding	Pathogenic
1	215817028	CA	C	A215817029G	USH2A	NM_206933.4(USH2A):c.9538del:p.Cys3180fs	coding	Pathogenic
1	215817071	C	CA	T215817073A	USH2A	NM_206933.4(USH2A):c.9495dup:p.Glu3166Ter	coding	Pathogenic
1	215817078	CT	C	T215817079G	USH2A	NM_206933.4(USH2A):c.9488del:p.Gln3163fs	coding	Pathogenic
1	215817093	CT	C	T215817097G	USH2A	NM_206933.4(USH2A):c.9473del:p.Lys3158fs	coding	Pathogenic
1	215817288	A	AAT	A215817302T	USH2A	NM_206933.4(USH2A):c.9372-105AT[7]	noncoding	Benign
1	215838049	TG	T	G215838051T	USH2A	NM_206933.4(USH2A):c.9312del:p.Thr3105fs	coding	Pathogenic
1	215844312	GA	G	A215844314G	USH2A	NM_206933.4(USH2A):c.9239del:p.Phe3080fs	coding	Pathogenic
1	215844383	CATAG	C	T215844389A	USH2A	NM_206933.4(USH2A):c.9165_9168del:p.Ile3055fs	coding	Pathogenic
1	215845884	CAG	C	G215845888T	USH2A	NM_206933.4(USH2A):c.8993_8994del:p.Ser2998fs	coding	Pathogenic
1	215845890	T	TAAAGATCCAATACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	C215845905G	USH2A	NM_206933.4(USH2A):c.8988_8989insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTATTGGATCTTT:p.Ile2997delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer	coding	Pathogenic
1	215845960	TAG	T	A215845965T	USH2A	NM_206933.4(USH2A):c.8917_8918del:p.Leu2973fs	coding	Pathogenic/Likely_pathogenic
1	215845992	AAAGT	A	A215845993G	USH2A	NM_206933.4(USH2A):c.8883_8886del:p.Leu2962fs	coding	Pathogenic
1	215846016	CT	C	T215846018G	USH2A	NM_206933.4(USH2A):c.8862del:p.Gly2955fs	coding	Pathogenic
1	215846084	GAA	G	A215846093T	USH2A	NM_206933.4(USH2A):c.8846-53_8846-52del	noncoding	Benign
1	215846084	GA	G	A215846094T	USH2A	NM_206933.4(USH2A):c.8846-52del	noncoding	Benign
1	215867127	CCA	C	A215867131T	USH2A	NM_206933.4(USH2A):c.8723_8724del:p.Val2908fs	coding	Pathogenic
1	215867137	G	GT	G215867139T	USH2A	NM_206933.4(USH2A):c.8714dup:p.His2905fs	coding	Pathogenic
1	215867188	T	TA	G215867196A	USH2A	NM_206933.4(USH2A):c.8682-25dup	noncoding	Benign
1	215878839	GA	G	A215878840C	USH2A	NM_206933.4(USH2A):c.8482del:p.Ser2828fs	coding	Pathogenic
1	215878879	T	TA	C215878882A	USH2A	NM_206933.4(USH2A):c.8442dup:p.Thr2815fs	coding	Pathogenic
1	215878883	ATAGG	A	G215878890A	USH2A	NM_206933.4(USH2A):c.8435_8438del:p.Thr2812fs	coding	Pathogenic
1	215878980	G	GT	A215878982T	USH2A	NM_206933.4(USH2A):c.8341dup:p.Thr2781fs	coding	Pathogenic
1	215879089	TC	T	C215879091A	USH2A	NM_206933.4(USH2A):c.8232del:p.Thr2743_Trp2744insTer	coding	Pathogenic
1	215888505	A	AC	A215888509C	USH2A	NM_206933.4(USH2A):c.8143dup:p.Val2715fs	coding	Pathogenic
1	215888521	T	TTG	C215888526T	USH2A	NM_206933.4(USH2A):c.8126_8127dup:p.Asn2710fs	coding	Pathogenic
1	215888671	CA	C	A215888673T	USH2A	NM_206933.4(USH2A):c.7977del:p.Ile2659fs	coding	Pathogenic
1	215888708	AG	A	G215888713T	USH2A	NM_206933.4(USH2A):c.7940del:p.Pro2647fs	coding	Pathogenic/Likely_pathogenic
1	215888785	CT	C	T215888786G	USH2A	NM_206933.4(USH2A):c.7863del:p.Ala2623fs	coding	Pathogenic
1	215888786	TG	T	G215888789A	USH2A	NM_206933.4(USH2A):c.7862del:p.Pro2621fs	coding	Pathogenic
1	215889163	TG	T	G215889165T	USH2A	NM_206933.4(USH2A):c.7595-110del	noncoding	Benign
1	215934699	GT	G	T215934700A	USH2A	NM_206933.4(USH2A):c.7216del:p.Thr2406fs	coding	Pathogenic
1	215934721	TGAGCACCCAAA	T	A215934723G	USH2A	NM_206933.4(USH2A):c.7184_7194del:p.Leu2395fs	coding	Pathogenic
1	215934775	GAA	G	A215934776G	USH2A	NM_206933.4(USH2A):c.7139_7140del:p.Leu2380fs	coding	Pathogenic
1	215965318	TG	T	G215965321T	USH2A	NM_206933.4(USH2A):c.7118del:p.Pro2373fs	coding	Pathogenic
1	215965396	CA	C	A215965397C	USH2A	NM_206933.4(USH2A):c.7040del:p.Val2347fs	coding	Pathogenic
1	215970625	CA	C	A215970626G	USH2A	NM_206933.4(USH2A):c.6956del:p.Leu2319fs	coding	Pathogenic
1	215970676	AT	A	T215970677G	USH2A	NM_206933.4(USH2A):c.6905del:p.His2302fs	coding	Pathogenic
1	215970891	ACT	A	C215970894G	USH2A	NM_206933.4(USH2A):c.6806-117_6806-116del	noncoding	Benign
1	215993152	C	CA	C215993154A	USH2A	NM_206933.4(USH2A):c.6672dup:p.Gly2225fs	coding	Pathogenic/Likely_pathogenic
1	215998682	A	AT	G215998686T	USH2A	NM_206933.4(USH2A):c.6657+202dup	noncoding	Benign
1	215998786	CT	C	T215998798A	USH2A	NM_206933.4(USH2A):c.6657+100del	noncoding	Benign
1	215998902	ATATT	A	T215998907A	USH2A	NM_206933.4(USH2A):c.6638_6641del:p.Lys2213fs	coding	Pathogenic
1	216000436	AG	A	G216000437A	USH2A	NM_206933.4(USH2A):c.6451del:p.Val2150_Leu2151insTer	coding	Pathogenic
1	216046459	TGAATA	T	A216046462T	USH2A	NM_206933.4(USH2A):c.6292_6296del:p.Tyr2098fs	coding	Pathogenic
1	216046516	CT	C	T216046521G	USH2A	NM_206933.4(USH2A):c.6239del:p.Lys2080fs	coding	Pathogenic
1	216046521	TG	T	G216046524T	USH2A	NM_206933.4(USH2A):c.6234del:p.Lys2080fs	coding	Pathogenic
1	216046543	C	CAA	G216046547A	USH2A	NM_206933.4(USH2A):c.6211_6212dup:p.Leu2071fs	coding	Pathogenic
1	216046577	T	TG	A216046579G	USH2A	NM_206933.4(USH2A):c.6178dup:p.Gln2060fs	coding	Pathogenic/Likely_pathogenic
1	216070166	T	TC	T216070169C	USH2A	NM_206933.4(USH2A):c.5983dup:p.Asp1995fs	coding	Pathogenic
1	216072909	C	CGA	C216072912G	USH2A	NM_206933.4(USH2A):c.5835_5836dup:p.Arg1946fs	coding	Pathogenic
1	216072913	T	TC	A216072916C	USH2A	NM_206933.4(USH2A):c.5832dup:p.Ser1945fs	coding	Pathogenic
1	216072927	AC	A	C216072928T	USH2A	NM_206933.4(USH2A):c.5818del:p.Val1940fs	coding	Pathogenic
1	216073258	G	GATGCCAAGTTA	C216073259A	USH2A	NM_206933.4(USH2A):c.5614_5615insTAACTTGGCAT:p.Ala1872fs	coding	Pathogenic
1	216073259	C	ATGCCAAGTTAA	C216073259A	USH2A	NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT:p.Ala1872fs	coding	Pathogenic
1	216073333	AG	A	G216073336C	USH2A	NM_206933.4(USH2A):c.5573-34del	noncoding	Benign
1	216074296	CGAGTTTG	C	G216074297A	USH2A	NM_206933.4(USH2A):c.5573-1003_5573-997del	noncoding	Benign
1	216074304	A	AC	G216074305C	USH2A	NM_206933.4(USH2A):c.5573-1005_5573-1004insG	noncoding	Benign
1	216074324	TTCTCTCTC	T	T216074343C	USH2A	NM_206933.4(USH2A):c.5573-1050GA[9]	noncoding	Benign
1	216074324	TTCTC	T	T216074347C	USH2A	NM_206933.4(USH2A):c.5573-1050GA[11]	noncoding	Benign
1	216074324	TTC	T	T216074349C	USH2A	NM_206933.4(USH2A):c.5573-1050GA[12]	noncoding	Benign
1	216074324	T	TTC	C216074351T	USH2A	NM_206933.4(USH2A):c.5573-1050GA[14]	noncoding	Benign
1	216078106	TGTTGATAAGA	T	G216078110C	USH2A	NM_206933.4(USH2A):c.5545_5554del:p.Ser1849fs	coding	Pathogenic/Likely_pathogenic
1	216078112	TA	T	A216078114G	USH2A	NM_206933.4(USH2A):c.5548del:p.Tyr1850fs	coding	Pathogenic
1	216078376	T	TA	G216078383A	USH2A	NM_206933.4(USH2A):c.5299-15dup	noncoding	Benign
1	216083461	G	GA	T216083466A	USH2A	NM_206933.4(USH2A):c.5292dup:p.Leu1765fs	coding	Pathogenic
1	216083476	CTTTGTTATAAACGAAAAGAAGCAATCCA	C	G216083480A	USH2A	NM_206933.4(USH2A):c.5250_5277del:p.Asn1750fs	coding	Pathogenic
1	216083535	AT	A	T216083536C	USH2A	NM_206933.4(USH2A):c.5218del:p.Ile1740fs	coding	Pathogenic
1	216084781	CT	C	T216084782C	USH2A	NM_206933.4(USH2A):c.5083del:p.Ser1695fs	coding	Pathogenic/Likely_pathogenic
1	216089060	A	AT	A216089062T	USH2A	NM_206933.4(USH2A):c.4837dup:p.Ile1613fs	coding	Pathogenic
1	216089128	C	CA	C216089130A	USH2A	NM_206933.4(USH2A):c.4769dup:p.Glu1591fs	coding	Pathogenic
1	216097081	AC	A	C216097083T	USH2A	NM_206933.4(USH2A):c.4758+1del	noncoding	Pathogenic
1	216175313	G	GA	C216175317A	USH2A	NM_206933.4(USH2A):c.4565dup:p.Ile1523fs	coding	Pathogenic
1	216190341	TTC	T	C216190343T	USH2A	NM_206933.4(USH2A):c.4276_4277del:p.Glu1426fs	coding	Pathogenic/Likely_pathogenic
1	216190376	C	CA	G216190383A	USH2A	NM_206933.4(USH2A):c.4252-15dup	noncoding	Benign/Likely_benign
1	216196495	AT	A	T216196496G	USH2A	NM_206933.4(USH2A):c.4251+57del	noncoding	Benign
1	216196551	AC	A	C216196553T	USH2A	NM_206933.4(USH2A):c.4251+1del	noncoding	Pathogenic
1	216196557	G	GA	C216196562A	USH2A	NM_206933.4(USH2A):c.4246dup:p.Ser1416fs	coding	Pathogenic
1	216196610	G	GTCATA	C216196616T	USH2A	NM_206933.4(USH2A):c.4189_4193dup:p.Ile1399fs	coding	Pathogenic/Likely_pathogenic
1	216196681	AAG	A	A216196686G	USH2A	NM_206933.4(USH2A):c.4121_4122del:p.Ser1374fs	coding	Pathogenic
1	216196685	GA	G	A216196686G	USH2A	NM_206933.4(USH2A):c.4118del:p.Leu1373fs	coding	Pathogenic
1	216196717	CA	C	A216196718G	USH2A	NM_206933.4(USH2A):c.4086del:p.Val1363fs	coding	Pathogenic
1	216198317	GATTCT	G	A216198318C	USH2A	NM_206933.4(USH2A):c.4074_4078del:p.Glu1359fs	coding	Pathogenic
1	216198439	AG	A	G216198441T	USH2A	NM_206933.4(USH2A):c.3956del:p.Pro1319fs	coding	Pathogenic
1	216198461	GC	G	C216198463G	USH2A	NM_206933.4(USH2A):c.3934del:p.Ala1312fs	coding	Pathogenic
1	216198478	ATGAGGAC	A	G216198483C	USH2A	NM_206933.4(USH2A):c.3911_3917del:p.Ser1304fs	coding	Pathogenic
1	216198484	AC	A	C216198485T	USH2A	NM_206933.4(USH2A):c.3911del:p.Ser1304fs	coding	Pathogenic
1	216198545	CT	C	T216198546C	USH2A	NM_206933.4(USH2A):c.3850del:p.Arg1284fs	coding	Pathogenic
1	216198555	TC	AG	T216198555A	USH2A	NM_206933.4(USH2A):c.3840_3841delinsCT:p.Met1280_Arg1281delinsIleTer	coding	Pathogenic
1	216198558	TG	T	G216198559T	USH2A	NM_206933.4(USH2A):c.3837del:p.Leu1278_Tyr1279insTer	coding	Pathogenic
1	216199694	T	TGG	A216199697G	USH2A	NM_206933.4(USH2A):c.3742_3743dup:p.Pro1249fs	coding	Pathogenic
1	216199707	TGGGGA	T	A216199712C	USH2A	NM_206933.4(USH2A):c.3726_3730del:p.Pro1243fs	coding	Pathogenic
1	216199709	GGGAGGGG	TGA	G216199709T	USH2A;USH2A-AS1	NM_206933.4(USH2A):c.3722_3729delinsTCA:p.Ala1241fs	coding	Pathogenic
1	216199738	TG	T	G216199741C	USH2A	NM_206933.4(USH2A):c.3699del:p.Ile1234fs	coding	Pathogenic
1	216200129	G	GA	G216200134A	USH2A	NM_206933.4(USH2A):c.3317-12dup	noncoding	Benign
1	216200134	G	GA	C216200147A	USH2A	NM_206933.4(USH2A):c.3317-25dup	noncoding	Benign
1	216207322	TA	T	A216207325C	USH2A	NM_206933.4(USH2A):c.3266del:p.Leu1089fs	coding	Pathogenic
1	216207713	CTT	C	T216207730G	USH2A	NM_206933.4(USH2A):c.3158-284_3158-283del	noncoding	Benign
1	216231851	C	CA	T216231860A	USH2A	NM_206933.4(USH2A):c.2993+94dup	noncoding	Benign
1	216232001	C	CA	C216232004A	USH2A	NM_206933.4(USH2A):c.2944dup:p.Cys982fs	coding	Pathogenic
1	216232066	ATT	A	T216232067A	USH2A	NM_206933.4(USH2A):c.2878_2879del:p.Asn960fs	coding	Pathogenic
1	216232068	TA	T	A216232070C	USH2A	NM_206933.4(USH2A):c.2877del:p.Asn960fs	coding	Pathogenic
1	216246655	AC	A	C216246656A	USH2A	NM_206933.4(USH2A):c.2738del:p.Cys913fs	coding	Pathogenic
1	216246663	TC	T	C216246666A	USH2A	NM_206933.4(USH2A):c.2730del:p.Thr911fs	coding	Pathogenic
1	216246679	CA	C	A216246681G	USH2A	NM_206933.4(USH2A):c.2714del:p.Leu905fs	coding	Pathogenic
1	216246711	GA	G	A216246715T	USH2A	NM_206933.4(USH2A):c.2682del:p.Gln895fs	coding	Pathogenic
1	216246744	GC	G	C216246745T	USH2A	NM_206933.4(USH2A):c.2649del:p.Glu883fs	coding	Pathogenic
1	216246777	CT	C	T216246778A	USH2A	NM_206933.4(USH2A):c.2616del:p.Gly873_Val874insTer	coding	Pathogenic/Likely_pathogenic
1	216246861	GAC	G	C216246863G	USH2A	NM_206933.4(USH2A):c.2531_2532del:p.Cys844fs	coding	Pathogenic
1	216246868	G	GA	G216246872A	USH2A	NM_206933.4(USH2A):c.2525dup:p.Leu843fs	coding	Pathogenic
1	216247090	GC	G	C216247091A	USH2A	NM_206933.4(USH2A):c.2303del:p.Cys768fs	coding	Pathogenic
1	216247162	ACATC	A	T216247165A	USH2A	NM_206933.4(USH2A):c.2228_2231del:p.Gly743fs	coding	Pathogenic
1	216247234	T	TA	T216247239A	USH2A	NM_206933.4(USH2A):c.2168-9dup	noncoding	Benign
1	216292175	C	CTGTA	G216292180T	USH2A	NM_206933.4(USH2A):c.1836_1839dup:p.Gly614fs	coding	Pathogenic
1	216292257	G	GTAT	A216292260T	USH2A	NM_206933.4(USH2A):c.1757_1758insATA:p.Tyr586Ter	coding	Pathogenic
1	216292264	CA	C	A216292265G	USH2A	NM_206933.4(USH2A):c.1750del:p.Cys584fs	coding	Pathogenic
1	216292348	TAA	T	A216292350G	USH2A	NM_206933.4(USH2A):c.1665_1666del:p.Leu555_Tyr556insTer	coding	Pathogenic
1	216292377	CA	C	A216292383T	USH2A	NM_206933.4(USH2A):c.1645-8del	noncoding	Benign/Likely_benign
1	216323276	TTATATATA	T	T216323295A	USH2A	NM_206933.4(USH2A):c.1550+172TA[9]	noncoding	Benign
1	216323276	TTATATA	T	T216323297A	USH2A	NM_206933.4(USH2A):c.1550+172TA[10]	noncoding	Benign
1	216323276	TTATA	T	T216323299A	USH2A	NM_206933.4(USH2A):c.1550+172TA[11]	noncoding	Benign
1	216323276	TTA	T	T216323301A	USH2A	NM_206933.4(USH2A):c.1550+172TA[12]	noncoding	Benign
1	216323277	TA	T	A216323278T	USH2A	NM_206933.4(USH2A):c.1550+196del	noncoding	Benign
1	216323279	TA	T	A216323280T	USH2A	NM_206933.4(USH2A):c.1550+194del	noncoding	Benign
1	216323556	GA	G	A216323560T	USH2A	NM_206933.4(USH2A):c.1467del:p.His490fs	coding	Pathogenic
1	216324127	CCAAT	C	A216324130G	USH2A	NM_206933.4(USH2A):c.1328+37_1328+40del	noncoding	Benign
1	216324318	T	TATTTCCG	G216324319A	USH2A	NM_206933.4(USH2A):c.1177_1178insCGGAAAT:p.Gln393fs	coding	Pathogenic
1	216324338	GATAAT	G	T216324343A	USH2A	NM_206933.4(USH2A):c.1153_1157del:p.Ile385fs	coding	Pathogenic
1	216325418	AAGAG	A	A216325423G	USH2A	NM_206933.4(USH2A):c.1026_1029del:p.Ser343fs	coding	Pathogenic
1	216325460	T	TTTA	A216325461T	USH2A	NM_206933.4(USH2A):c.987_988insTAA:p.Asn330Ter	coding	Pathogenic
1	216325552	TG	T	G216325555C	USH2A	NM_206933.4(USH2A):c.895del:p.Gln299fs	coding	Pathogenic
1	216327623	AT	A	T216327624C	USH2A	NM_206933.4(USH2A):c.815del:p.Asp272fs	coding	Pathogenic
1	216364790	AT	A	T216364791A	USH2A	NM_206933.4(USH2A):c.784+162del	noncoding	Benign
1	216365058	TAAAG	T	A216365061G	USH2A	NM_206933.4(USH2A):c.675_678del:p.Phe225fs	coding	Pathogenic/Likely_pathogenic
1	216418540	TCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACAC	T	A216418542T	USH2A	NC_000001.10:g.216591883_216592021del	coding	Pathogenic
1	216421880	A	ATTTAGCC	A216421882T	USH2A	NM_206933.4(USH2A):c.456_457insGGCTAAA:p.Trp153delinsGlyTer	coding	Pathogenic
1	216421935	GC	T	G216421935T	USH2A	NM_206933.4(USH2A):c.401_402delinsA:p.Ser134fs	coding	Pathogenic
1	216422044	G	GT	G216422046T	USH2A	NM_206933.4(USH2A):c.292dup:p.Thr98fs	coding	Pathogenic
1	216422094	C	CT	G216422096T	USH2A	NM_206933.4(USH2A):c.242dup:p.Arg82fs	coding	Pathogenic
1	216422267	AG	A	G216422269C	USH2A	NM_206933.4(USH2A):c.69del:p.Tyr24fs	coding	Pathogenic
1	218345080	GTCCT	G	C218345087A	TGFB2	Single_allele	noncoding	Benign
1	218346649	CT	C	T218346657A	TGFB2	NM_003238.6(TGFB2):c.-45del	noncoding	Benign/Likely_benign
1	218346728	TC	T	C218346729T	TGFB2	NM_003238.6(TGFB2):c.28del:p.Phe9_Leu10insTer	coding	Pathogenic
1	218346738	C	CATCTT	G218346743T	TGFB2	NM_003238.6(TGFB2):c.41_42insTATCT:p.Val15fs	coding	Pathogenic
1	218346889	T	TC	G218346896C	TGFB2	NM_003238.6(TGFB2):c.194dup:p.Glu66fs	coding	Pathogenic
1	218346895	CG	C	G218346897A	TGFB2	NM_003238.6(TGFB2):c.196del:p.Glu66fs	coding	Pathogenic
1	218347028	G	GCC	T218347032C	TGFB2	NM_003238.6(TGFB2):c.329_330dup:p.Phe111fs	coding	Pathogenic
1	218405269	CAG	C	A218405272T	TGFB2	NM_003238.6(TGFB2):c.450_451del:p.Arg150fs	coding	Pathogenic
1	218405275	C	CT	C218405279T	TGFB2	NM_003238.6(TGFB2):c.456dup:p.Arg153fs	coding	Pathogenic
1	218434067	CT	C	T218434072C	TGFB2	NM_003238.6(TGFB2):c.511-10del	noncoding	Benign/Likely_benign
1	218436012	CTATAAAG	C	A218436014C	TGFB2	NM_003238.6(TGFB2):c.799_805del:p.Ile267fs	coding	Pathogenic
1	218436028	GA	G	A218436036C	TGFB2	NM_003238.6(TGFB2):c.821del:p.Asn274fs	coding	Pathogenic
1	218436082	C	CA	G218436084A	TGFB2	NM_003238.6(TGFB2):c.868dup:p.Arg290fs	coding	Pathogenic
1	218436120	GTGCTTTGGATGCGGCCTAT	G	G218436127A	TGFB2	NM_003238.6(TGFB2):c.912_930del:p.Asp305fs	coding	Pathogenic
1	218437320	CTT	C	T218437336A	TGFB2	NM_003238.6(TGFB2):c.933-7_933-6del	noncoding	Benign
1	218437395	G	GA	T218437397A	TGFB2	NM_003238.6(TGFB2):c.986dup:p.Asp329fs	coding	Pathogenic
1	218437450	CT	C	T218437451G	TGFB2	NM_003238.6(TGFB2):c.1041del:p.Gly348fs	coding	Pathogenic
1	218440924	G	GA	T218440929A	TGFB2	NM_003238.6(TGFB2):c.1087-276dup	noncoding	Benign
1	219927155	CA	C	A219927164C	SLC30A10	NM_018713.3(SLC30A10):c.641-51del	noncoding	Benign
1	219927638	TAAAAAAAAAAAAA	T	A219927656C	SLC30A10	NM_018713.3(SLC30A10):c.640+150_640+162del	noncoding	Benign
1	219927638	TAAAAAAA	T	A219927662C	SLC30A10	NM_018713.3(SLC30A10):c.640+156_640+162del	noncoding	Benign
1	219927638	TAAAAAA	T	A219927663C	SLC30A10	NM_018713.3(SLC30A10):c.640+157_640+162del	noncoding	Benign
1	219927638	TAAAA	T	A219927665C	SLC30A10	NM_018713.3(SLC30A10):c.640+159_640+162del	noncoding	Benign
1	219927638	TAAA	T	A219927666C	SLC30A10	NM_018713.3(SLC30A10):c.640+160_640+162del	noncoding	Benign
1	219927678	CAAAA	C	A219927688C	SLC30A10	NM_018713.3(SLC30A10):c.640+119_640+122del	noncoding	Benign
1	219927678	CA	C	A219927691C	SLC30A10	NM_018713.3(SLC30A10):c.640+122del	noncoding	Benign
1	219927680	A	AC	A219927681C	SLC30A10	NM_018713.3(SLC30A10):c.640+120_640+121insG	noncoding	Benign
1	219927682	A	AC	A219927683C	SLC30A10	NM_018713.3(SLC30A10):c.640+118_640+119insG	noncoding	Benign
1	219927683	A	AC	A219927684C	SLC30A10	NM_018713.3(SLC30A10):c.640+117_640+118insG	noncoding	Benign
1	219927687	A	AAAAC	A219927691C	SLC30A10	NM_018713.3(SLC30A10):c.640+113_640+114insTTTG	noncoding	Benign
1	219927687	A	AAAC	A219927690C	SLC30A10	NM_018713.3(SLC30A10):c.640+113_640+114insTTG	noncoding	Benign
1	219927687	A	AAC	A219927689C	SLC30A10	NM_018713.3(SLC30A10):c.640+113_640+114insTG	noncoding	Benign
1	219927687	A	AC	A219927688C	SLC30A10	NM_018713.3(SLC30A10):c.640+113_640+114insG	noncoding	Benign
1	220005375	T	TA	C220005379A	EPRS1	NM_004446.3(EPRS1):c.1951-18dup	noncoding	Benign
1	220032372	G	GA	G220032380A	EPRS1	NM_004446.3(EPRS1):c.528+14dup	noncoding	Benign
1	220093896	TAAA	T	A220093907T	IARS2	Single_allele	noncoding	Benign
1	220093896	TAA	T	A220093908T	IARS2	Single_allele	noncoding	Benign
1	220093896	TA	T	A220093909T	IARS2	Single_allele	noncoding	Benign
1	220093906	AAAAT	A	A220093908T	IARS2	Single_allele	noncoding	Benign
1	220093907	AAAT	A	A220093909T	IARS2	Single_allele	noncoding	Benign
1	220093909	AT	A	T220093910A	IARS2	Single_allele	noncoding	Benign
1	220093909	ATAT	A	T220093910A	IARS2	Single_allele	noncoding	Benign
1	220093911	AT	A	T220093912A	IARS2	Single_allele	noncoding	Benign
1	220096084	C	CT	A220096097T	IARS2	NM_018060.4(IARS2):c.268-8dup	noncoding	Benign
1	220096084	CT	C	T220096096A	IARS2	NM_018060.4(IARS2):c.268-8del	noncoding	Benign
1	220102118	CT	C	T220102126A	IARS2	NM_018060.4(IARS2):c.551-3del	noncoding	Benign
1	220102288	A	AT	C220102295T	IARS2	NM_018060.4(IARS2):c.699+17dup	noncoding	Benign/Likely_benign
1	220110770	G	GT	A220110782T	IARS2	NM_018060.4(IARS2):c.1328-5dup	noncoding	Benign
1	220125222	T	TC	T220125229C	IARS2	NM_018060.4(IARS2):c.1641-9dup	noncoding	Benign
1	220154102	AG	A	G220154108A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3556-46del	noncoding	Benign
1	220159493	T	TA	G220159499A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3226-77dup	noncoding	Benign
1	220164445	G	GT	G220164456T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3154+278dup	noncoding	Benign
1	220164473	G	GT	A220164493T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3154+241dup	noncoding	Benign
1	220164473	GT	G	T220164492A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3154+259del	noncoding	Benign
1	220172683	TGACT	CCACAGTC	T220172683C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG:p.Gln789_Ser790delinsArgLeuTrp	coding	Pathogenic
1	220182049	G	GA	T220182060A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2310+198dup	noncoding	Benign
1	220182091	CT	C	T220182093C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2310+165del	noncoding	Benign
1	220189515	AT	A	T220189532A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1779+187del	noncoding	Benign
1	220189515	ATT	A	T220189531A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1779+186_1779+187del	noncoding	Benign
1	220189735	GAATT	G	A220189740C	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1743_1746del:p.Leu581fs	coding	Pathogenic
1	220196403	T	TA	G220196416A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.812-6dup	noncoding	Benign
1	220213743	G	GAGA	G220213744A	RAB3GAP2	NM_012414.4(RAB3GAP2):c.304+112_304+113insTCT	noncoding	Benign
1	220213945	GT	G	T220213951G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.214del:p.Thr72fs	coding	Pathogenic
1	220271928	G	GT	G220271930T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.115+294dup	noncoding	Benign
1	222982938	C	CT	A222982950T	DISP1	NM_001377229.1(DISP1):c.510-131dup	noncoding	Benign
1	222982938	C	CTT	A222982950T	DISP1	NM_001377229.1(DISP1):c.510-132_510-131dup	noncoding	Benign
1	222983064	CT	C	T222983076C	DISP1	NM_001377229.1(DISP1):c.510-4del	noncoding	Benign
1	224157611	AC	G	A224157611G	FBXO28	NM_015176.4(FBXO28):c.972_973delinsG:p.Arg325fs	coding	Pathogenic
1	224157703	TAG	T	G224157705C	FBXO28	NM_015176.4(FBXO28):c.1066_1067del:p.Asp356fs	coding	Pathogenic
1	224189745	T	TG	A224189747G	DEGS1	NM_003676.4(DEGS1):c.252dup:p.Thr85fs	coding	Pathogenic
1	224192357	ATGAC	A	T224192358A	DEGS1	NM_003676.4(DEGS1):c.852_855del:p.Tyr283_Tyr284insTer	coding	Pathogenic
1	224404530	TG	T	G224404531T	WDR26	NM_001379403.1(WDR26):c.1498del:p.His500fs	coding	Pathogenic
1	224431565	TTCAGG	T	G224431569T	WDR26	NM_001379403.1(WDR26):c.834_838del:p.Asp278fs	coding	Pathogenic
1	224431727	AGAAG	A	A224431730T	WDR26	NM_001379403.1(WDR26):c.773_776del:p.Pro258fs	coding	Pathogenic
1	224433913	A	AG	C224433919G	WDR26	NM_001379403.1(WDR26):c.492dup:p.Ser165fs	coding	Pathogenic
1	224433993	TGGGCCGACAAGCAGGCGAGTTCC	T	C224433997G	WDR26	NM_001379403.1(WDR26):c.390_412del:p.Leu132fs	coding	Pathogenic
1	224434040	GC	G	C224434045T	WDR26	NM_001379403.1(WDR26):c.365del:p.Gly122fs	coding	Pathogenic
1	225403408	GAC	G	C225403410A	LBR	NM_002296.4(LBR):c.1741_1742del:p.Val581fs	coding	Pathogenic
1	225412649	T	TA	G225412666A	LBR	NM_002296.4(LBR):c.893-20dup	noncoding	Benign
1	225419673	G	GA	C225419685A	LBR	NM_002296.4(LBR):c.450+31dup	noncoding	Benign
1	225419761	T	TC	A225419766C	LBR	NM_002296.4(LBR):c.403dup:p.Glu135fs	coding	Pathogenic
1	225831546	CAAAAAA	C	A225831554G	EPHX1	NM_001136018.4(EPHX1):c.184-225_184-220del	noncoding	Benign
1	225831546	CA	C	A225831559G	EPHX1	NM_001136018.4(EPHX1):c.184-220del	noncoding	Benign
1	225831546	C	CA	G225831560A	EPHX1	NM_001136018.4(EPHX1):c.184-220dup	noncoding	Benign
1	225831554	AAAAAAG	A	G225831560A	EPHX1	NM_001136018.4(EPHX1):c.184-219_184-214del	noncoding	Benign
1	225831555	AAAAAG	A	G225831560A	EPHX1	NM_001136018.4(EPHX1):c.184-219_184-215del	noncoding	Benign
1	225831560	GAAAA	G	A225831563G	EPHX1	NM_001136018.4(EPHX1):c.184-216_184-213del	noncoding	Benign
1	225831560	GAA	G	A225831565G	EPHX1	NM_001136018.4(EPHX1):c.184-214_184-213del	noncoding	Benign
1	225839366	G	GGT	C225839403G	EPHX1	NM_001136018.4(EPHX1):c.722+21GT[19]	noncoding	Benign
1	225839366	G	GGTGT	C225839403G	EPHX1	NM_001136018.4(EPHX1):c.722+21GT[20]	noncoding	Benign
1	225839366	G	GGTGTGT	C225839403G	EPHX1	NM_001136018.4(EPHX1):c.722+21GT[21]	noncoding	Benign
1	225839366	G	GGTGTGTGT	C225839403G	EPHX1	NM_001136018.4(EPHX1):c.722+21GT[22]	noncoding	Benign
1	225861044	CA	C	A225861046G	TMEM63A	NM_014698.3(TMEM63A):c.1086-48del	noncoding	Benign
1	225922043	G	GA	T225922046A	PYCR2	NM_013328.4(PYCR2):c.354dup:p.Arg119fs	coding	Pathogenic
1	225922212	CA	C	A225922213G	PYCR2	NM_013328.4(PYCR2):c.309del:p.Val104fs	coding	Pathogenic
1	225937843	G	GA	G225937845A	LEFTY2	NM_003240.5(LEFTY2):c.738-40dup	noncoding	Benign
1	225938038	AT	A	T225938039G	LEFTY2	NM_003240.5(LEFTY2):c.738-235del	noncoding	Benign
1	225940669	TC	T	C225940670T	LEFTY2	NM_003240.5(LEFTY2):c.250+221del	noncoding	Benign
1	226407702	A	AGGGCCC	C226407716G	PARP1	NM_001618.4(PARP1):c.120+96GGGCCC[3]	noncoding	Benign
1	226961509	GC	G	C226961512T	COQ8A	NM_020247.5(COQ8A):c.127del:p.Leu43fs	coding	Pathogenic
1	226961512	CT	A	C226961512A	COQ8A	NM_020247.5(COQ8A):c.127_128delinsA:p.Leu43fs	coding	Pathogenic
1	226965312	C	CA	C226965314A	COQ8A	NM_020247.5(COQ8A):c.491dup:p.His164fs	coding	Pathogenic
1	226965710	AGG	A	G226965711A	COQ8A	NM_020247.5(COQ8A):c.629_630del:p.Arg210fs	coding	Pathogenic
1	226983883	GT	G	T226983886G	COQ8A	NM_020247.5(COQ8A):c.1256+32del	noncoding	Benign
1	226984035	G	GT	G226984036T	COQ8A	NM_020247.5(COQ8A):c.1257-59_1257-58insT	noncoding	Benign
1	226984103	G	GT	A226984104T	COQ8A	NM_020247.5(COQ8A):c.1266_1267insT:p.Lys423Ter	coding	Pathogenic
1	226984669	T	TG	C226984675G	COQ8A	NM_020247.5(COQ8A):c.1506+19dup	noncoding	Benign
1	228157974	GCC	G	C228157977T	GJC2	NM_020435.4(GJC2):c.219_220del:p.Leu74fs	coding	Pathogenic
1	228158145	G	GC	G228158151C	GJC2	NM_020435.4(GJC2):c.392dup:p.His132fs	coding	Pathogenic
1	228158228	A	AGGAGACGGGG	C228158240G	GJC2	NM_020435.4(GJC2):c.472_481dup:p.Ala161fs	coding	Pathogenic
1	228158329	A	AC	G228158334C	GJC2	NM_020435.4(GJC2):c.575dup:p.Thr195fs	coding	Pathogenic
1	228158665	G	GGCCCCCCGGCCTCCGCCCCC	G228158692C	GJC2	NM_020435.4(GJC2):c.914_933dup:p.Ala312fs	coding	Pathogenic
1	228158894	CGGCCTCCCGGG	C	T228158899C	GJC2	NM_020435.4(GJC2):c.1141_1151del:p.Ser381fs	coding	Pathogenic
1	228166080	C	CCCGCCTGCTGCGCGCGCGGGCT	A228166103C	IBA57	NM_001010867.4(IBA57):c.265_286dup:p.Tyr96fs	coding	Pathogenic
1	228166131	GA	G	A228166132C	IBA57	NM_001010867.4(IBA57):c.316del:p.Thr106fs	coding	Pathogenic
1	229431915	GC	G	C229431916G	ACTA1	NM_001100.4(ACTA1):c.809-14del	noncoding	Benign
1	229431916	C	CG	A229431921G	ACTA1	NM_001100.4(ACTA1):c.809-18dup	noncoding	Benign/Likely_benign
1	229432391	CA	C	A229432392C	ACTA1	NM_001100.4(ACTA1):c.494del:p.Val165fs	coding	Pathogenic
1	229432573	GC	G	C229432574G	ACTA1	NM_001100.4(ACTA1):c.436del:p.Ala146fs	coding	Pathogenic
1	229432609	AT	A	T229432610G	ACTA1	NM_001100.4(ACTA1):c.400del:p.Met134fs	coding	Pathogenic
1	229432851	ATCTT	A	T229432855G	ACTA1	NM_001100.4(ACTA1):c.155_158del:p.Lys52fs	coding	Pathogenic
1	229433187	AG	A	G229433195T	ACTA1	NM_001100.4(ACTA1):c.-12-61del	noncoding	Benign
1	230642497	AC	A	C230642503T	COG2	NM_007357.3(COG2):c.-104del	noncoding	Benign
1	230663118	C	CT	G230663130T	COG2	NM_007357.3(COG2):c.301-12dup	noncoding	Benign
1	230664238	C	CA	G230664250A	COG2	NM_007357.3(COG2):c.382-235dup	noncoding	Benign
1	230683409	TAA	T	A230683428G	COG2	NM_007357.3(COG2):c.1167-146_1167-145del	noncoding	Benign
1	230683409	TA	T	A230683429G	COG2	NM_007357.3(COG2):c.1167-145del	noncoding	Benign
1	230683733	G	GT	A230683746T	COG2	NM_007357.3(COG2):c.1228+110dup	noncoding	Benign
1	230685017	C	CACATT	G230685024C	COG2	NM_007357.3(COG2):c.1229-66_1229-62dup	noncoding	Benign
1	230685034	TA	T	A230685038T	COG2	NM_007357.3(COG2):c.1229-47del	noncoding	Benign
1	230988317	CA	TG	C230988317T	ARV1	NM_022786.3(ARV1):c.175-3_175-2inv	noncoding	Pathogenic
1	231260370	T	TTA	G231260372A	GNPAT	NM_014236.4(GNPAT):c.262-136_262-135insAT	noncoding	Benign
1	231260650	GA	G	A231260652G	GNPAT	NM_014236.4(GNPAT):c.407del:p.Lys136fs	coding	Pathogenic
1	231270960	AG	A	G231270961T	GNPAT	NM_014236.4(GNPAT):c.1483del:p.Leu494_Val495insTer	coding	Pathogenic
1	231272366	TCTTC	T	T231272372A	GNPAT	NM_014236.4(GNPAT):c.1583_1586del:p.Leu528fs	coding	Pathogenic/Likely_pathogenic
1	231275398	AT	A	T231275402A	GNPAT	NM_014236.4(GNPAT):c.1844-3del	noncoding	Benign
1	231276212	T	TA	T231276217A	GNPAT	NM_014236.4(GNPAT):c.1999+20dup	noncoding	Benign
1	231335522	AT	A	T231335523A	EXOC8	NM_175876.5(EXOC8):c.*45del	noncoding	Benign
1	231337730	A	ACATCGC	T231337746C	EXOC8	NM_175876.5(EXOC8):c.4GCGATG[3]:p.2AM[3]	coding	Benign
1	231366498	AT	A	T231366502C	EGLN1	NM_022051.3(EGLN1):c.1217-24del	noncoding	Benign
1	231373677	CGT	C	G231373702A	EGLN1	NM_022051.3(EGLN1):c.1011+277AC[12]	noncoding	Benign
1	231373698	GTGTGTA	G	A231373704G	EGLN1	NM_022051.3(EGLN1):c.1011+276_1011+281del	noncoding	Benign
1	231373980	C	CT	G231373983T	EGLN1	NM_022051.3(EGLN1):c.1010dup:p.Val338fs	coding	Pathogenic
1	234374112	GT	G	T234374129A	COA6	NM_001206641.3(COA6):c.213-101del	coding	Benign
1	235379947	C	CA	T235379965A	TBCE	NM_003193.5(TBCE):c.-31-55dup	noncoding	Benign
1	235380161	TTGTG	T	G235380211A	TBCE	NM_003193.5(TBCE):c.100+13TG[24]	noncoding	Benign
1	235380161	TTGTGTGTGTGTGTG	T	G235380201A	TBCE	NM_003193.5(TBCE):c.100+13TG[19]	noncoding	Benign
1	235380161	TTGTGTGTGTGTGTGTG	T	G235380199A	TBCE	NM_003193.5(TBCE):c.100+13TG[18]	noncoding	Benign
1	235380161	TTGTGTGTGTGTGTGTGTGTG	T	G235380195A	TBCE	NM_003193.5(TBCE):c.100+13TG[16]	noncoding	Benign
1	235380161	TTGTGTGTGTGTGTGTGTGTGTG	T	G235380193A	TBCE	NM_003193.5(TBCE):c.100+13TG[15]	noncoding	Benign
1	235380161	TTGTGTGTGTGTGTGTGTGTGTGTG	T	G235380191A	TBCE	NM_003193.5(TBCE):c.100+13TG[14]	noncoding	Benign
1	235434549	C	CTTTTTT	G235434557T	TBCE	NM_003193.5(TBCE):c.737+271_737+276dup	noncoding	Benign
1	235436738	A	AC	A235436739C	TBCE	NM_003193.5(TBCE):c.963+130_963+131insC	noncoding	Benign
1	235438552	T	TAAA	G235438564A	TBCE	NM_003193.5(TBCE):c.1117-208_1117-206dup	noncoding	Benign
1	235443087	G	GC	A235443093C	TBCE	NM_003193.5(TBCE):c.1399+181dup	noncoding	Benign
1	235448220	CA	C	A235448240G	TBCE	NM_003193.5(TBCE):c.1400-109del	coding	Benign
1	235448220	C	CAAA	G235448241A	TBCE	NM_003193.5(TBCE):c.1400-111_1400-109dup	coding	Benign
1	235448220	C	CAA	G235448241A	TBCE	NM_003193.5(TBCE):c.1400-110_1400-109dup	coding	Benign
1	235448220	C	CA	G235448241A	TBCE	NM_003193.5(TBCE):c.1400-109dup	coding	Benign
1	235455476	C	CA	G235455487A	B3GALNT2	NM_152490.5(B3GALNT2):c.1151+73dup	noncoding	Benign
1	235455642	ATC	A	C235455644G	B3GALNT2	NM_152490.5(B3GALNT2):c.1066_1067del:p.Thr355_Asp356insTer	coding	Pathogenic
1	235455670	G	GT	G235455673T	B3GALNT2	NM_152490.5(B3GALNT2):c.1039dup:p.Thr347fs	coding	Pathogenic
1	235455720	CCAAA	C	A235455731C	B3GALNT2	NM_152490.5(B3GALNT2):c.1026-48TTTG[2]	noncoding	Benign
1	235458543	C	CA	C235458557A	B3GALNT2	NM_152490.5(B3GALNT2):c.1025+47dup	noncoding	Benign
1	235458606	C	CTA	G235458611T	B3GALNT2	NM_152490.5(B3GALNT2):c.1020_1021dup:p.Arg341fs	coding	Pathogenic
1	235458724	T	TC	T235458727C	B3GALNT2	NM_152490.5(B3GALNT2):c.903dup:p.Asn302fs	coding	Pathogenic
1	235470575	C	CAA	G235470593A	B3GALNT2	NM_152490.5(B3GALNT2):c.762+258_762+259dup	noncoding	Benign
1	235470614	T	TA	T235470620A	B3GALNT2	NM_152490.5(B3GALNT2):c.762+231dup	noncoding	Benign
1	235470832	TA	T	A235470841C	B3GALNT2	NM_152490.5(B3GALNT2):c.762+17del	noncoding	Benign
1	235470832	T	TAA	C235470842A	B3GALNT2	NM_152490.5(B3GALNT2):c.762+16_762+17dup	noncoding	Benign
1	235470832	T	TA	C235470842A	B3GALNT2	NM_152490.5(B3GALNT2):c.762+9dup	noncoding	Benign/Likely_benign
1	235470858	CT	C	T235470859C	B3GALNT2	NM_152490.5(B3GALNT2):c.753del:p.Val252fs	coding	Pathogenic
1	235489470	CT	C	T235489472A	B3GALNT2	NM_152490.5(B3GALNT2):c.261-203del	noncoding	Benign
1	235504098	AC	A	C235504105G	B3GALNT2	NM_152490.5(B3GALNT2):c.112+42del	noncoding	Benign
1	235663082	TAA	T	A235663094T	LYST	NM_000081.4(LYST):c.11268-6_11268-5del	noncoding	Benign/Likely_benign
1	235677770	T	TA	T235677777A	LYST	NM_000081.4(LYST):c.10801-157dup	noncoding	Benign
1	235693481	TCA	T	A235693485C	LYST	NM_000081.4(LYST):c.10568_10569del:p.Val3523fs	coding	Pathogenic
1	235693505	GA	G	A235693509G	LYST	NM_000081.4(LYST):c.10565-20del	noncoding	Benign
1	235697361	AAAGT	A	G235697364T	LYST	NM_000081.4(LYST):c.10375-93_10375-90del	noncoding	Benign
1	235702671	T	TTACTGTGTCCCTGG	C235702672T	LYST	NM_000081.4(LYST):c.10374+75_10374+76insCCAGGGACACAGTA	noncoding	Benign
1	235709075	T	TA	G235709080A	LYST	NM_000081.4(LYST):c.10143+15dup	noncoding	Benign
1	235715131	A	AGTT	T235715156G	LYST	NM_000081.4(LYST):c.9784+46AAC[9]	noncoding	Benign
1	235715131	AGTT	A	G235715153T	LYST	NM_000081.4(LYST):c.9784+46AAC[7]	noncoding	Benign
1	235720771	GT	G	T235720774A	LYST	NM_000081.4(LYST):c.9449del:p.Asn3150fs	coding	Pathogenic
1	235720831	AGCGGTGATGTTAC	A	G235720832C	LYST	NM_000081.4(LYST):c.9377_9389del:p.Gly3126fs	coding	Pathogenic
1	235730609	GTGTGTA	G	G235730611A	LYST	NM_000081.4(LYST):c.9044+232_9044+237del	noncoding	Benign
1	235730611	GTGTA	G	G235730613A	LYST	NM_000081.4(LYST):c.9044+232_9044+235del	noncoding	Benign
1	235733611	TGG	T	G235733613A	LYST	NM_000081.4(LYST):c.8691_8692del:p.Gln2898fs	coding	Pathogenic
1	235734677	AT	A	T235734683A	LYST	NM_000081.4(LYST):c.8359-19del	noncoding	Benign
1	235744167	GA	G	A235744174G	LYST	NM_000081.4(LYST):c.7973-11del	noncoding	Benign
1	235755388	CAAAAGAAAAG	C	G235755423A	LYST	NM_000081.4(LYST):c.7229+50CTTTT[6]	noncoding	Benign
1	235755388	C	CAAAAG	A235755433G	LYST	NM_000081.4(LYST):c.7229+50CTTTT[9]	noncoding	Benign
1	235762785	CT	C	T235762787C	LYST	NM_000081.4(LYST):c.6187del:p.Arg2063fs	coding	Pathogenic
1	235766280	G	GA	T235766287A	LYST	NM_000081.4(LYST):c.5923-4dup	noncoding	Benign
1	235766287	T	TA	C235766296A	LYST	NM_000081.4(LYST):c.5923-11dup	noncoding	Benign
1	235770048	G	GA	G235770059A	LYST	NM_000081.4(LYST):c.5922+102dup	noncoding	Benign
1	235775088	T	TAA	T235775100A	LYST	NM_000081.4(LYST):c.5461-13_5461-12dup	noncoding	Benign
1	235782180	CT	C	T235782195G	LYST	NM_000081.4(LYST):c.4863-94del	noncoding	Benign
1	235791916	ACTCT	A	C235791921A	LYST	NM_000081.4(LYST):c.4322_4325del:p.Glu1441fs	coding	Pathogenic
1	235800919	C	CA	C235800926A	LYST	NM_000081.4(LYST):c.3890dup:p.Leu1297fs	coding	Pathogenic
1	235804625	TG	T	G235804627T	LYST	NM_000081.4(LYST):c.3433del:p.His1145fs	coding	Pathogenic
1	235805600	ATATAT	A	T235805606G	LYST	NM_000081.4(LYST):c.3393+138_3393+142del	noncoding	Benign
1	235805628	A	AAT	T235805639A	LYST	NM_000081.4(LYST):c.3393+105AT[6]	noncoding	Benign
1	235806303	AT	A	T235806304A	LYST	NM_000081.4(LYST):c.2832del:p.Ser945fs	coding	Pathogenic
1	235806781	G	GA	G235806789A	LYST	NM_000081.4(LYST):c.2364-16dup	noncoding	Benign
1	235810242	TA	T	A235810248T	LYST	NM_000081.4(LYST):c.575del:p.Phe191_Leu192insTer	coding	Pathogenic
1	235813016	GGA	G	G235813021C	LYST	NM_000081.4(LYST):c.236_237del:p.Leu79fs	coding	Pathogenic
1	235980002	C	CA	C235980011A	NID1	NM_002508.3(NID1):c.3386-65dup	noncoding	Benign
1	235990757	AGGACTACAT	A	C235990761A	NID1	NM_002508.3(NID1):c.2928+120_2928+128del	noncoding	Benign
1	236016841	C	CT	A236016844T	NID1	NM_002508.3(NID1):c.2254+305dup	noncoding	Benign
1	236032078	CTG	C	T236032081A	NID1	NM_002508.3(NID1):c.1537+321_1537+322del	noncoding	Benign
1	236042340	CA	C	A236042341G	NID1	NM_002508.3(NID1):c.753-49del	noncoding	Benign
1	236409068	T	TA	G236409088A	EDARADD	NM_145861.4(EDARADD):c.62-129dup	noncoding	Benign
1	236414462	C	CT	A236414469T	EDARADD	NM_145861.4(EDARADD):c.160+169dup	noncoding	Benign
1	236427375	C	CT	C236427387T	EDARADD	NM_145861.4(EDARADD):c.161-6dup	noncoding	Benign
1	236427375	CT	C	T236427386C	EDARADD	NM_145861.4(EDARADD):c.161-6del	noncoding	Benign
1	236484708	GA	G	A236484727G	EDARADD	NM_145861.4(EDARADD):c.*2078del	noncoding	Benign
1	236484708	G	GA	G236484728A	EDARADD	NM_145861.4(EDARADD):c.*2078dup	noncoding	Benign
1	236686806	AG	A	G236686810C	ACTN2	NM_001103.4(ACTN2):c.126+11del	noncoding	Benign
1	236725636	TAAA	T	A236725641G	ACTN2	NM_001103.4(ACTN2):c.449-292_449-290del	noncoding	Benign
1	236725636	T	TA	G236725644A	ACTN2	NM_001103.4(ACTN2):c.449-290dup	noncoding	Benign
1	236727514	AGAT	A	T236727517G	ACTN2	NM_001103.4(ACTN2):c.537-161_537-159del	noncoding	Benign
1	236735383	AG	A	G236735387T	ACTN2	NM_001103.4(ACTN2):c.698-248del	noncoding	Benign
1	236735624	TC	T	C236735629T	ACTN2	NM_001103.4(ACTN2):c.698-6del	noncoding	Benign
1	236736599	TC	T	C236736604T	ACTN2	NM_001103.4(ACTN2):c.784-518del	coding	Benign
1	236737298	C	CAT	T236737319A	ACTN2	NM_001103.4(ACTN2):c.876+85AT[11]	noncoding	Benign
1	236739232	ATT	A	T236739243A	ACTN2	NM_001103.4(ACTN2):c.877-59_877-58del	noncoding	Benign
1	236744666	GTC	ATT	G236744666A	ACTN2	NM_001103.4(ACTN2):c.1296_1298delinsATT:p.Ser433Leu	coding	Benign
1	236751221	A	AT	A236751228T	ACTN2	NM_001103.4(ACTN2):c.1657-243dup	noncoding	Benign
1	236761432	C	CGT	A236761459G	ACTN2	NM_001103.4(ACTN2):c.2526+260GT[14]	noncoding	Benign
1	236761432	C	CGTGT	A236761459G	ACTN2	NM_001103.4(ACTN2):c.2526+260GT[15]	noncoding	Benign
1	236761432	C	CGTGTGT	A236761459G	ACTN2	NM_001103.4(ACTN2):c.2526+260GT[16]	noncoding	Benign
1	236761432	C	CGTGTGTGT	A236761459G	ACTN2	NM_001103.4(ACTN2):c.2526+260GT[17]	noncoding	Benign
1	236761432	CGTGTGT	C	G236761453A	ACTN2	NM_001103.4(ACTN2):c.2526+260GT[10]	noncoding	Benign
1	236762449	A	AT	C236762456T	ACTN2	NM_001103.4(ACTN2):c.2527-6dup	noncoding	Benign
1	236815692	T	TTCTG	T236815696G	MTR	NM_000254.3(MTR):c.669+32_669+33insGTCT	noncoding	Benign
1	236825293	A	AT	A236825299T	MTR	NM_000254.3(MTR):c.866-40dup	noncoding	Benign
1	236850250	AT	A	T236850251A	MTR	NM_000254.3(MTR):c.1516-93del	noncoding	Benign
1	236850614	CTGA	C	T236850618A	MTR	NM_000254.3(MTR):c.1695+95_1695+97del	noncoding	Benign
1	236852256	C	CGT	A236852277G	MTR	NM_000254.3(MTR):c.1696-264GT[11]	noncoding	Benign
1	236852256	CGT	C	G236852275A	MTR	NM_000254.3(MTR):c.1696-264GT[9]	noncoding	Benign
1	236861137	CAT	C	A236861140T	MTR	NM_000254.3(MTR):c.2059_2060del:p.Ile687fs	coding	Pathogenic
1	236861181	AT	A	T236861182A	MTR	NM_000254.3(MTR):c.2101del:p.Tyr701fs	coding	Pathogenic
1	236873931	GCCC	G	C236873933A	MTR	NM_000254.3(MTR):c.2473+93_2473+95del	noncoding	Benign
1	236873938	GAGGGT	G	A236873939T	MTR	NM_000254.3(MTR):c.2473+99_2473+103del	noncoding	Benign
1	236874698	CT	C	T236874708A	MTR	NM_000254.3(MTR):c.2474-18del	noncoding	Benign
1	236874707	TTA	T	T236874708A	MTR	NM_000254.3(MTR):c.2474-18_2474-17del	noncoding	Benign
1	236874708	TAA	T	A236874721T	MTR	NM_000254.3(MTR):c.2474-5_2474-4del	noncoding	Benign
1	236874708	TA	T	A236874722T	MTR	NM_000254.3(MTR):c.2474-4del	noncoding	Benign
1	236874708	T	TA	T236874723A	MTR	NM_000254.3(MTR):c.2474-4dup	noncoding	Benign/Likely_benign
1	236886300	ATACT	A	T236886304C	MTR	NM_000254.3(MTR):c.2788_2791del:p.Leu930fs	coding	Pathogenic
1	236894658	CT	C	T236894673C	MTR	NM_000254.3(MTR):c.3405+116del	noncoding	Benign
1	236895696	C	CTATT	C236895701T	MTR	NM_000254.3(MTR):c.3598+147_3598+150dup	noncoding	Benign
1	236897312	A	ATG	C236897313T	MTR	NM_000254.3(MTR):c.3711+194_3711+195insTG	noncoding	Benign
1	236897314	A	ACGCGCG	A236897316G	MTR	NM_000254.3(MTR):c.3711+197_3711+198insGCGCGC	noncoding	Benign
1	236897339	CACACAT	C	C236897343G	MTR	NM_000254.3(MTR):c.3712-215_3712-210del	noncoding	Benign
1	237042412	CT	C	T237042413C	RYR2	NM_001035.3(RYR2):c.-109del	noncoding	Benign
1	237356305	C	CA	C237356315A	RYR2	NM_001035.3(RYR2):c.294+329dup	noncoding	Benign
1	237369508	TCTC	T	C237369511T	RYR2	NM_001035.3(RYR2):c.310-23_310-21del	noncoding	Benign/Likely_benign
1	237369850	TAG	T	A237369853T	RYR2	NM_001035.3(RYR2):c.384+245_384+246del	noncoding	Benign
1	237387941	G	GTC	A237387945C	RYR2	NM_001035.3(RYR2):c.677-144_677-143dup	noncoding	Benign
1	237416749	AAC	A	C237416763G	RYR2	NM_001035.3(RYR2):c.774-299AC[6]	noncoding	Benign
1	237416757	C	CAG	C237416759G	RYR2	NM_001035.3(RYR2):c.774-291_774-290insGA	noncoding	Benign
1	237416761	C	CAGAG	C237416763G	RYR2	NM_001035.3(RYR2):c.774-287_774-286insGAGA	noncoding	Benign
1	237440999	GA	G	A237441010T	RYR2	NM_001035.3(RYR2):c.1006-309del	noncoding	Benign
1	237441495	G	GA	C237441503A	RYR2	NM_001035.3(RYR2):c.1170+19dup	noncoding	Benign
1	237456575	A	ATT	A237456590T	RYR2	NM_001035.3(RYR2):c.1477-12_1477-11dup	noncoding	Benign/Likely_benign
1	237501172	G	GT	A237501190T	RYR2	NM_001035.3(RYR2):c.2396+286dup	noncoding	Benign
1	237501172	GT	G	T237501189A	RYR2	NM_001035.3(RYR2):c.2396+286del	noncoding	Benign
1	237506543	G	GA	G237506559A	RYR2	NM_001035.3(RYR2):c.2614-152dup	noncoding	Benign
1	237511834	GAAAAAAAAAA	G	A237511850C	RYR2	NM_001035.3(RYR2):c.2822+59_2822+68del	noncoding	Benign
1	237511834	GAAAAAAAAA	G	A237511851C	RYR2	NM_001035.3(RYR2):c.2822+60_2822+68del	noncoding	Benign
1	237511834	GA	G	A237511859C	RYR2	NM_001035.3(RYR2):c.2822+68del	noncoding	Benign
1	237511834	G	GA	C237511860A	RYR2	NM_001035.3(RYR2):c.2822+68dup	noncoding	Benign
1	237511850	A	AG	A237511851G	RYR2	NM_001035.3(RYR2):c.2822+59_2822+60insG	noncoding	Benign
1	237589774	A	AT	C237589785T	RYR2	NM_001035.3(RYR2):c.3599-9dup	noncoding	Benign
1	237591089	TCTCCTCCTCCTCCTCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCC	T	T237591103C	RYR2	NM_001035.3(RYR2):c.4160+111_4160+155del	noncoding	Benign
1	237602343	G	GA	T237602353A	RYR2	NM_001035.3(RYR2):c.4683+241dup	noncoding	Benign
1	237623878	CT	C	T237623883G	RYR2	NM_001035.3(RYR2):c.6022+13del	noncoding	Benign
1	237623893	C	CT	A237623898T	RYR2	NM_001035.3(RYR2):c.6022+27dup	noncoding	Benign
1	237634741	T	TA	T237634746A	RYR2	NM_001035.3(RYR2):c.6689-144dup	noncoding	Benign
1	237638104	G	GAA	G237638116A	RYR2	NM_001035.3(RYR2):c.6793-243_6793-242dup	noncoding	Benign
1	237643619	C	CT	G237643631T	RYR2	NM_001035.3(RYR2):c.7342+183dup	noncoding	Benign
1	237643619	C	CTT	G237643631T	RYR2	NM_001035.3(RYR2):c.7342+182_7342+183dup	noncoding	Benign
1	237654214	GA	G	A237654223T	RYR2	NM_001035.3(RYR2):c.7825-51del	noncoding	Benign
1	237658304	TA	T	A237658310G	RYR2	NM_001035.3(RYR2):c.8208+288del	noncoding	Benign
1	237660207	T	TA	C237660218A	RYR2	NM_001035.3(RYR2):c.8298+143dup	noncoding	Benign
1	237666506	A	AG	T237666507G	RYR2	NM_001035.3(RYR2):c.8437-6_8437-5insG	noncoding	Benign
1	237674648	C	CAT	C237674660T	RYR2	NM_001035.3(RYR2):c.8715-82AT[6]	noncoding	Benign
1	237698703	CTT	C	T237698706A	RYR2	NM_001035.3(RYR2):c.9068-259_9068-258del	noncoding	Benign
1	237700490	G	GT	A237700504T	RYR2	NM_001035.3(RYR2):c.9367+36dup	noncoding	Benign
1	237700490	GT	G	T237700503A	RYR2	NM_001035.3(RYR2):c.9367+36del	noncoding	Benign
1	237709412	TG	T	G237709414T	RYR2	NM_001035.3(RYR2):c.10143-66del	noncoding	Benign
1	237709414	GT	G	T237709426A	RYR2	NM_001035.3(RYR2):c.10143-54del	noncoding	Benign
1	237722895	ACT	A	T237722899A	RYR2	NM_001035.3(RYR2):c.10555-229_10555-228del	noncoding	Benign
1	237723115	C	CT	C237723122T	RYR2	NM_001035.3(RYR2):c.10555-7dup	noncoding	Benign
1	237723201	A	ATCCAGAGAAGACGGTAGAAAGAG	A237723226C	RYR2	NM_001035.3(RYR2):c.10630_10652dup:p.Val3551_Leu3552insGlnArgArgArgTer	coding	Pathogenic
1	237731891	T	TACACACACACAC	C237731920A	RYR2	NM_001035.3(RYR2):c.10936-154AC[20]	noncoding	Benign
1	237731891	T	TACACACACAC	C237731920A	RYR2	NM_001035.3(RYR2):c.10936-154AC[19]	noncoding	Benign
1	237731891	T	TACACACAC	C237731920A	RYR2	NM_001035.3(RYR2):c.10936-154AC[18]	noncoding	Benign
1	237731891	T	TACACAC	C237731920A	RYR2	NM_001035.3(RYR2):c.10936-154AC[17]	noncoding	Benign
1	237731891	T	TAC	C237731920A	RYR2	NM_001035.3(RYR2):c.10936-154AC[15]	noncoding	Benign
1	237731916	A	ACACACACACC	C237731920A	RYR2	NM_001035.3(RYR2):c.10936-127_10936-126insACACACCCAC	noncoding	Benign
1	237742268	T	TC	T237742271C	RYR2	NM_001035.3(RYR2):c.11092-26dup	noncoding	Benign
1	237742270	C	CT	A237742286T	RYR2	NM_001035.3(RYR2):c.11092-11dup	noncoding	Benign/Likely_benign
1	237742270	CT	C	T237742285A	RYR2	NM_001035.3(RYR2):c.11092-11del	noncoding	Benign/Likely_benign
1	237756048	G	GAA	T237756058A	RYR2	NM_001035.3(RYR2):c.11146-232_11146-231dup	noncoding	Benign
1	237756109	GAA	G	A237756117C	RYR2	NM_001035.3(RYR2):c.11146-171_11146-170del	noncoding	Benign
1	237756109	GA	G	A237756118C	RYR2	NM_001035.3(RYR2):c.11146-170del	noncoding	Benign
1	237760930	G	GT	C237760940T	RYR2	NM_001035.3(RYR2):c.11403-16dup	noncoding	Benign
1	237771993	A	AT	A237772001T	RYR2	NM_001035.3(RYR2):c.11558-12dup	noncoding	Benign
1	237778397	C	CAA	T237778410A	RYR2	NM_001035.3(RYR2):c.11776-258_11776-257dup	noncoding	Benign
1	237778397	C	CA	T237778410A	RYR2	NM_001035.3(RYR2):c.11776-257dup	noncoding	Benign
1	237792349	CTG	C	T237792380C	RYR2	NM_001035.3(RYR2):c.13782+27TG[15]	noncoding	Benign
1	237792349	CTGTG	C	T237792378C	RYR2	NM_001035.3(RYR2):c.13782+27TG[14]	noncoding	Benign
1	237792349	CTGTGTG	C	T237792376C	RYR2	NM_001035.3(RYR2):c.13782+27TG[13]	noncoding	Benign
1	237792349	CTGTGTGTG	C	T237792374C	RYR2	NM_001035.3(RYR2):c.13782+27TG[12]	noncoding	Benign
1	237792349	CTGTGTGTGTG	C	T237792372C	RYR2	NM_001035.3(RYR2):c.13782+27TG[11]	noncoding	Benign
1	237792368	T	TGTGTGCGCGC	T237792374C	RYR2	NM_001035.3(RYR2):c.13782+50_13782+51insCGCGCGTGTG	noncoding	Benign
1	237792374	T	TGCGCGC	T237792376C	RYR2	NM_001035.3(RYR2):c.13782+52_13782+53insCGCGCG	noncoding	Benign
1	237792382	C	CGTGT	C237792398T	RYR2	NM_001035.3(RYR2):c.13782+60GT[9]	noncoding	Benign
1	237792382	CGTGTGTGTGT	C	T237792388C	RYR2	NM_001035.3(RYR2):c.13782+60GT[2]	noncoding	Benign
1	237792382	CGTGTGTGTGTGTGTGCGTGTGTGTGT	C	C237792398T	RYR2	NM_001035.3(RYR2):c.13782+75_13782+100del	noncoding	Benign
1	237792396	TGC	T	C237792398T	RYR2	NM_001035.3(RYR2):c.13782+75_13782+76del	noncoding	Benign
1	237798275	A	AATAG	G237798286A	RYR2	NM_001035.3(RYR2):c.14090+106ATAG[3]	noncoding	Benign
1	237801541	CA	C	A237801557T	RYR2	NM_001035.3(RYR2):c.14091-299del	noncoding	Benign
1	237801833	A	ATT	G237801846T	RYR2	NM_001035.3(RYR2):c.14091-12_14091-11dup	noncoding	Benign
1	237806193	CT	C	T237806202G	RYR2	NM_001035.3(RYR2):c.14217del:p.Phe4739fs	coding	Benign/Likely_benign
1	237828562	TG	T	G237828564T	RYR2	NM_001035.3(RYR2):c.14655+119del	noncoding	Benign
1	237833281	GA	G	A237833293C	RYR2	NM_001035.3(RYR2):c.*646del	noncoding	Benign/Likely_benign
1	237833534	G	GAAAC	G237833541A	RYR2	NM_001035.3(RYR2):c.*890_*893dup	noncoding	Benign/Likely_benign
1	239909421	G	GAAA	C239909432A	CHRM3	NM_001375978.1(CHRM3):c.*205_*207dup	noncoding	Benign
1	239909421	G	GAA	C239909432A	CHRM3	NM_001375978.1(CHRM3):c.*206_*207dup	noncoding	Benign
1	240092268	GGGC	G	C240092283G	FMN2	NM_020066.5(FMN2):c.162CGG[4]:p.Gly59del	coding	Benign
1	240093655	TC	T	C240093659A	FMN2	NM_020066.5(FMN2):c.1550del:p.Pro517fs	coding	Pathogenic
1	240208133	ACCT	A	T240208139G	FMN2	NM_020066.5(FMN2):c.3324TCC[1]:p.Pro1112del	coding	Benign
1	241497345	GCA	G	C241497360T	FH	Single_allele	noncoding	Benign
1	241497605	TAA	T	A241497606G	FH	NM_000143.4(FH):c.*221_*222del	noncoding	Benign/Likely_benign
1	241497863	AT	A	T241497865C	FH	NM_000143.4(FH):c.1497del:p.Glu499fs	coding	Pathogenic
1	241497878	CT	C	T241497879G	FH	NM_000143.4(FH):c.1482del:p.Glu495fs	coding	Pathogenic
1	241497882	TG	T	G241497883T	FH	NM_000143.4(FH):c.1478del:p.Thr493fs	coding	Pathogenic
1	241497903	AG	A	G241497904C	FH	NM_000143.4(FH):c.1457del:p.Ala486fs	coding	Pathogenic
1	241497947	C	CA	T241497950A	FH	NM_000143.4(FH):c.1413dup:p.Ala472fs	coding	Pathogenic
1	241497968	AC	A	C241497971T	FH	NC_000001.10:g.241661269del	coding	Pathogenic
1	241497970	CC	AA	C241497970A	FH	NM_000143.4(FH):c.1391-1_1391delinsTT	coding	Pathogenic
1	241500516	TC	T	C241500519A	FH	NM_000143.4(FH):c.1310del:p.Gly437fs	coding	Pathogenic
1	241500546	TG	T	G241500547A	FH	NM_000143.4(FH):c.1280del:p.Ala426_Ser427insTer	coding	Pathogenic
1	241500564	C	CCTGG	A241500572G	FH	NM_000143.4(FH):c.1259_1262dup:p.Arg421fs	coding	Pathogenic
1	241500579	CA	C	A241500580C	FH	NM_000143.4(FH):c.1247del:p.Val416fs	coding	Pathogenic
1	241500589	AT	A	T241500590C	FH	NM_000143.4(FH):c.1237del:p.Ile413fs	coding	Pathogenic
1	241500602	T	TGAGAGAGAGAGAGA	C241500641G	FH	NM_000143.4(FH):c.1237-50TC[26]	noncoding	Benign
1	241502544	C	CTT	C241502547T	FH	NM_000143.4(FH):c.1133_1134dup:p.Ala379fs	coding	Pathogenic
1	241502555	GT	G	T241502556A	FH	NM_000143.4(FH):c.1123del:p.Thr375fs	coding	Pathogenic
1	241504081	TC	T	C241504082A	FH	NM_000143.4(FH):c.1068del:p.Ile357fs	coding	Pathogenic
1	241504213	CA	C	A241504216T	FH	NM_000143.4(FH):c.936del:p.Phe312fs	coding	Pathogenic
1	241504216	AT	A	T241504219A	FH	NM_000143.4(FH):c.933del:p.Lys311fs	coding	Pathogenic
1	241504239	GGCAA	G	A241504242C	FH	NM_000143.4(FH):c.907_910del:p.Pro304fs	coding	Pathogenic
1	241504239	GGC	G	G241504240A	FH	NM_000143.4(FH):c.909_910del:p.Leu303fs	coding	Pathogenic
1	241506018	CTT	C	T241506021G	FH	NM_000143.4(FH):c.887_888del:p.Lys296fs	coding	Pathogenic
1	241506084	C	CA	G241506086A	FH	NM_000143.4(FH):c.822dup:p.Gly275fs	coding	Pathogenic
1	241506139	TTTTAC	T	T241506142G	FH	NM_000143.4(FH):c.763_767del:p.Val255fs	coding	Pathogenic
1	241508605	GC	AA	G241508605A	FH	NM_000143.4(FH):c.735_736delinsTT:p.Gln246Ter	coding	Pathogenic
1	241508605	GCC	G	C241508607A	FH	NM_000143.4(FH):c.734_735del:p.Gly245fs	coding	Pathogenic
1	241508616	AGT	A	T241508618G	FH	NM_000143.4(FH):c.723_724del:p.Leu242fs	coding	Pathogenic
1	241508652	TTGA	T	G241508657C	FH	NM_000143.4(FH):c.683TCA[1]:p.Ile229del	coding	Pathogenic
1	241508665	CAA	C	A241508667C	FH	NM_000143.4(FH):c.674_675del:p.Phe225fs	coding	Pathogenic
1	241508706	TG	T	G241508707T	FH	NM_000143.4(FH):c.634del:p.Gln212fs	coding	Pathogenic
1	241508716	GT	G	T241508717A	FH	NM_000143.4(FH):c.624del:p.Leu208fs	coding	Pathogenic
1	241508774	A	AT	C241508776T	FH	NM_000143.4(FH):c.566dup:p.Asp189fs	coding	Pathogenic
1	241511957	ACATACTGAC	A	A241511959T	FH	NM_000143.4(FH):c.555+1_555+9del	noncoding	Pathogenic
1	241511959	ATACTGACCTGGCTTTTATTAACATGATCGTT	A	T241511960G	FH	NM_000143.4(FH):c.532_555+7del	noncoding	Pathogenic
1	241511970	GC	G	C241511971T	FH	NM_000143.4(FH):c.551del:p.Ser184fs	coding	Pathogenic
1	241512098	GC	G	C241512100A	FH	NM_000143.4(FH):c.423del:p.Trp141fs	coding	Pathogenic
1	241512139	G	GC	T241512141C	FH	NM_000143.4(FH):c.382dup:p.Ala128fs	coding	Pathogenic
1	241512159	T	TA	T241512165A	FH	NM_000143.4(FH):c.379-17dup	noncoding	Benign
1	241513692	CA	C	A241513696G	FH	NM_000143.4(FH):c.288del:p.Phe96fs	coding	Pathogenic
1	241513707	C	CT	G241513709T	FH	NM_000143.4(FH):c.273dup:p.Val92fs	coding	Pathogenic
1	241513727	GA	G	A241513732T	FH	NM_000143.4(FH):c.268-15del	noncoding	Benign
1	241519586	CTCACCATT	GCTC	C241519586G	FH	NM_000143.4(FH):c.129_132+5delinsGAGC	noncoding	Pathogenic
1	241519602	CGTTCGGAGGCCAAAACGAG	C	T241519604G	FH	NM_000143.4(FH):c.102_120del:p.Ser35fs	coding	Pathogenic
1	241519613	CA	C	A241519617C	FH	NM_000143.4(FH):c.109del:p.Trp37fs	coding	Pathogenic
1	241519620	AG	A	G241519623C	FH	NM_000143.4(FH):c.102del:p.Ser35fs	coding	Pathogenic
1	241519630	CGCGCCACCCAAGCCGGGAGCCGAAGCTAAGGCTGCGGCTGGAGCCCGCACGAGGGG	C	G241519631A	FH	NM_000143.4(FH):c.37_92del:p.Pro13fs	coding	Pathogenic
1	241519653	AAGCTAAGGCTGCGGCTGGAGCCCGCACGAGGGGACGCG	A	T241519657G	FH	NM_000143.4(FH):c.32_69del:p.Ser11fs	coding	Pathogenic
1	241519692	AGC	A	C241519698A	FH	NM_000143.4(FH):c.29_30del:p.Arg10fs	coding	Pathogenic
1	243270135	CAT	C	A243270136G	SDCCAG8	NM_006642.5(SDCCAG8):c.99_100del:p.Ala35fs	coding	Pathogenic/Likely_pathogenic
1	243270821	CT	C	T243270834A	SDCCAG8	NM_006642.5(SDCCAG8):c.221-144del	noncoding	Benign
1	243270988	C	CA	G243270992A	SDCCAG8	NM_006642.5(SDCCAG8):c.234dup:p.Asp79fs	coding	Pathogenic
1	243341139	G	GC	A243341142C	SDCCAG8	NM_006642.5(SDCCAG8):c.1324dup:p.Gln442fs	coding	Pathogenic
1	243499640	G	GT	C243499648T	AKT3	NM_006642.5(SDCCAG8):c.2113-109dup	noncoding	Benign
1	243572908	CT	C	T243572923A	AKT3	NM_005465.7(AKT3):c.819+17del	noncoding	Benign
1	243637758	T	TA	T243637765A	AKT3	NM_005465.7(AKT3):c.430-17dup	noncoding	Benign
1	243664902	GTTTC	G	C243664906A	AKT3	NM_005465.7(AKT3):c.173-23_173-20del	noncoding	Benign
1	244054015	G	GC	G244054021C	ZBTB18	NM_205768.3(ZBTB18):c.246dup:p.Ala83fs	coding	Pathogenic
1	244054321	AG	A	G244054324A	ZBTB18	NM_205768.3(ZBTB18):c.550del:p.Asp184fs	coding	Pathogenic
1	244054427	G	GA	C244054433A	ZBTB18	NM_205768.3(ZBTB18):c.658dup:p.Thr220fs	coding	Pathogenic
1	244054525	CTG	C	G244054527C	ZBTB18	NM_205768.3(ZBTB18):c.753_754del:p.Ser252fs	coding	Pathogenic
1	244054648	AGTGAT	A	G244054651T	ZBTB18	NM_205768.3(ZBTB18):c.877_881del:p.Asp293fs	coding	Pathogenic
1	244835582	TGGC	T	G244835586C	COX20	NM_198076.5(COX20):c.-132_-130GGC[1]	noncoding	Benign
1	244854162	T	TA	G244854177A	HNRNPU	NM_031844.3(HNRNPU):c.*287dup	noncoding	Benign
1	244855154	TAGCA	T	G244855160T	HNRNPU	NM_031844.3(HNRNPU):c.2353-114_2353-111del	noncoding	Benign
1	244855481	G	GTAAC	C244855488A	HNRNPU	NM_031844.3(HNRNPU):c.2291_2294dup:p.Tyr765Ter	coding	Pathogenic
1	244855515	GGGTAT	G	T244855518A	HNRNPU	NM_031844.3(HNRNPU):c.2256_2260del:p.Tyr753fs	coding	Pathogenic
1	244855557	CCT	C	C244855562G	HNRNPU	NM_031844.3(HNRNPU):c.2217_2218del:p.Gly740fs	coding	Pathogenic
1	244855565	T	TG	C244855568G	HNRNPU	NM_031844.3(HNRNPU):c.2210dup:p.Gln738fs	coding	Pathogenic
1	244856064	A	AT	A244856066T	HNRNPU	NM_031844.3(HNRNPU):c.2006dup:p.Tyr669Ter	coding	Pathogenic
1	244856462	ATT	A	T244856465G	HNRNPU	NM_031844.3(HNRNPU):c.1905_1906del:p.Lys635fs	coding	Pathogenic
1	244856629	T	TA	G244856637A	HNRNPU	NM_031844.3(HNRNPU):c.1744-11dup	noncoding	Benign
1	244856796	C	CT	C244856798T	HNRNPU	NM_031844.3(HNRNPU):c.1674dup:p.Ala559fs	coding	Pathogenic
1	244856804	AAC	A	C244856806G	HNRNPU	NM_031844.3(HNRNPU):c.1665_1666del:p.Leu556fs	coding	Pathogenic
1	244857722	TGAAAA	T	A244857732T	HNRNPU	NM_031844.3(HNRNPU):c.1495-10_1495-6del	noncoding	Benign
1	244857989	TA	T	A244858002T	HNRNPU	NM_031844.3(HNRNPU):c.1494+21del	noncoding	Benign
1	244858183	CCA	C	C244858184G	HNRNPU	NM_031844.3(HNRNPU):c.1320_1321del:p.Gly441fs	coding	Pathogenic
1	244858222	AG	A	G244858223A	HNRNPU	NM_031844.3(HNRNPU):c.1282del:p.Gly429fs	coding	Pathogenic
1	244858801	T	TA	T244858803A	HNRNPU	NM_031844.3(HNRNPU):c.1157dup:p.Thr388fs	coding	Pathogenic
1	244859330	AAT	A	A244859333C	HNRNPU	NM_031844.3(HNRNPU):c.1060_1061del:p.Asp353_Ile354insTer	coding	Pathogenic
1	244862539	AAGAC	A	C244862543A	HNRNPU	NM_031844.3(HNRNPU):c.804-9_804-6del	noncoding	Pathogenic
1	244862690	CCT	C	C244862693T	HNRNPU	NM_031844.3(HNRNPU):c.730_731del:p.Arg244fs	coding	Pathogenic
1	244863395	GACAC	G	A244863418G	HNRNPU	NM_031844.3(HNRNPU):c.691+196GT[11]	noncoding	Benign
1	244863395	GAC	G	A244863420G	HNRNPU	NM_031844.3(HNRNPU):c.691+196GT[12]	noncoding	Benign
1	244863395	G	GAC	G244863422A	HNRNPU	NM_031844.3(HNRNPU):c.691+196GT[14]	noncoding	Benign
1	244863420	A	ACACG	G244863422A	HNRNPU	NM_031844.3(HNRNPU):c.691+196_691+197insGCGT	noncoding	Benign
1	244863420	A	ACG	A244863432G	HNRNPU	NM_031844.3(HNRNPU):c.691+187CG[6]	noncoding	Benign
1	244863616	C	CCCGCCGCCGGAGCCCCGGGGCGA	T244863648G	HNRNPU	NM_031844.3(HNRNPU):c.669_691dup:p.Gly231fs	noncoding	Pathogenic
1	244863647	C	CTCCGCCGCCT	T244863664G	HNRNPU	NM_031844.3(HNRNPU):c.651_660dup:p.Gly221fs	coding	Pathogenic
1	244863730	AGCGAGGTGGGGCCGCT	A	G244863733T	HNRNPU	NM_031844.3(HNRNPU):c.562_577del:p.Ser188fs	coding	Pathogenic
1	244863756	CG	C	G244863757C	HNRNPU	NM_031844.3(HNRNPU):c.551del:p.Ala184fs	coding	Pathogenic
1	244863997	A	AT	C244863999T	HNRNPU	NM_031844.3(HNRNPU):c.310dup:p.Met104fs	coding	Pathogenic
1	244864158	GCGGCCCC	G	C244864164T	HNRNPU	NM_031844.3(HNRNPU):c.143_149del:p.Gly48fs	coding	Pathogenic
1	245684413	TG	T	G245684420T	KIF26B	NM_018012.4(KIF26B):c.2421+25del	noncoding	Benign
1	247424227	CGA	TGG	C247424227T	NLRP3	NM_001243133.2(NLRP3):c.778_780delinsTGG:p.Arg260Trp	coding	Pathogenic
1	247444636	AC	A	C247444641T	NLRP3	NM_001243133.2(NLRP3):c.2835-10del	noncoding	Benign
1	247895848	TG	CA	T247895848C	OR2W3	NM_001001957.2(OR2W3):c.262_263inv:p.Cys88His	coding	Benign
1	247896050	ACTC	A	C247896053T	OR2W3	NM_001001957.2(OR2W3):c.467_469del:p.Ser156del	coding	Benign
1	247896477	G	GA	G247896480A	OR2W3	NM_001001957.2(OR2W3):c.893dup:p.Ala300fs	coding	Benign
2	1414438	G	GCTGGTTATGGCCTGCACAGA	A1414459C	TPO	NM_001206744.2(TPO):c.31_50dup:p.Glu17fs	coding	Pathogenic
2	1493494	TGAGCTGGAATATCCTAGCCTGGCAAACTGCTGGGCAGTGTCACAGGGTGGGACAGGACTCTGCCCGGCATCC	T	T1493525C	TPO	NM_001206744.2(TPO):c.1769-277_1769-206del	noncoding	Benign
2	1503975	A	AC	T1503983C	TPO	NM_001206744.2(TPO):c.2421dup:p.Cys808fs	coding	Pathogenic
2	1635187	GT	G	T1635189G	PXDN	NM_012293.3(PXDN):c.4320+220del	noncoding	Benign
2	1639031	CGGGTCTCATTTCAAGGTTTCCTGGGTGTGCACCGCCCCTGATGCTCTGAGCT	C	C1639082T	PXDN	NM_012293.3(PXDN):c.4074-105_4074-54del	noncoding	Benign
2	1649429	TG	T	G1649434T	PXDN	NM_012293.3(PXDN):c.2350del:p.His784fs	coding	Pathogenic
2	1660856	T	TAG	T1660860G	PXDN	NM_012293.3(PXDN):c.1837+23_1837+24dup	noncoding	Benign
2	1666395	CG	C	G1666401T	PXDN	NM_012293.3(PXDN):c.1109del:p.Pro370fs	coding	Pathogenic
2	1683889	TC	T	C1683891T	PXDN	NM_012293.3(PXDN):c.489-163del	noncoding	Benign
2	1809422	G	GA	G1809423A	MYT1L	NM_001303052.2(MYT1L):c.3081-256_3081-255insT	noncoding	Benign
2	1840899	TC	T	C1840900T	MYT1L	NM_001303052.2(MYT1L):c.2775-57del	noncoding	Benign
2	1887167	T	TA	C1887182A	MYT1L	NM_001303052.2(MYT1L):c.2642+307dup	noncoding	Benign
2	1910249	CG	C	G1910251T	MYT1L	NM_001303052.2(MYT1L):c.1807del:p.Arg603fs	coding	Pathogenic
2	1942998	TTCC	T	C1943019T	MYT1L	NM_001303052.2(MYT1L):c.468GGA[6]:p.Glu167del	coding	Benign
2	1942998	TTCCTCC	T	C1943016T	MYT1L	NM_001303052.2(MYT1L):c.468GGA[5]:p.Glu166_Glu167del	coding	Benign
2	1942998	T	TTCC	T1943022C	MYT1L	NM_001303052.2(MYT1L):c.468GGA[8]:p.Glu167dup	coding	Benign
2	1979143	GA	G	A1979152T	MYT1L	NM_001303052.2(MYT1L):c.152+21del	noncoding	Benign
2	3550140	C	CT	A3550143T	RNASEH1	NM_002936.6(RNASEH1):c.509+231dup	noncoding	Benign
2	3550142	TA	T	A3550167G	RNASEH1	NM_002936.6(RNASEH1):c.509+230del	noncoding	Benign
2	3550142	T	TA	G3550168A	RNASEH1	NM_002936.6(RNASEH1):c.509+206dup	noncoding	Benign
2	3552422	CCTCT	C	C3552425A	RNASEH1	NM_002936.6(RNASEH1):c.245-118_245-115del	noncoding	Benign
2	3575674	GCATCTCCCAGGT	CTGG	G3575674C	RPS7	NM_001011.4(RPS7):c.65_75+2delinsCTGG	coding	Pathogenic
2	3637570	T	TGA	C3637571G	COLEC11	NM_024027.5(COLEC11):c.240_241insGA:p.Arg81fs	coding	Pathogenic
2	3640311	CT	C	T3640312G	COLEC11	NM_024027.5(COLEC11):c.309del:p.Gly104fs	coding	Pathogenic
2	3643949	ACTC	A	C3643950T	COLEC11	NM_024027.5(COLEC11):c.648_650del:p.Ser217del	coding	Pathogenic
2	5694117	G	GTGA	A5694134G	SOX11	NM_003108.4(SOX11):c.*72GAT[6]	noncoding	Benign
2	8731645	CCT	C	C8731646G	KIDINS220	NM_020738.4(KIDINS220):c.4389_4390del:p.Val1465fs	coding	Pathogenic
2	8731742	CTA	C	T8731743G	KIDINS220	NM_020738.4(KIDINS220):c.4292_4293del:p.Leu1431fs	coding	Pathogenic
2	8750122	AAGGGATGCTG	A	A8750127C	KIDINS220	NM_020738.4(KIDINS220):c.3394_3403del:p.Gln1132fs	coding	Pathogenic
2	8770606	G	GT	A8770623T	KIDINS220	NM_020738.4(KIDINS220):c.3011+48dup	noncoding	Benign
2	8770606	GT	G	T8770622A	KIDINS220	NM_020738.4(KIDINS220):c.3011+63del	noncoding	Benign
2	8785824	CCAGCACTTG	C	A8785826C	KIDINS220	NM_020738.4(KIDINS220):c.2137_2145del:p.Gln713_Leu715del	coding	Pathogenic
2	8791247	CTTACA	C	C8791251A	KIDINS220	NM_020738.4(KIDINS220):c.1277-28_1277-24del	noncoding	Benign
2	8798310	T	TA	C8798319A	KIDINS220	NM_020738.4(KIDINS220):c.901-11dup	noncoding	Benign
2	8817715	TC	T	C8817717T	KIDINS220	NM_020738.4(KIDINS220):c.208del	coding	Pathogenic
2	9490115	AT	A	T9490118G	ADAM17	NM_003183.6(ADAM17):c.*61del	noncoding	Benign
2	9505241	TCA	T	A9505245T	ADAM17	NM_003183.6(ADAM17):c.1467_1468del:p.Cys489_Asp490delinsTer	coding	Pathogenic
2	9510221	C	CATAA	T9510222A	ADAM17	NM_003183.6(ADAM17):c.1192-91_1192-90insTTAT	noncoding	Benign
2	9518216	G	GAT	G9518219A	ADAM17	NM_003183.6(ADAM17):c.987_988dup:p.Ser330fs	coding	Pathogenic
2	9518259	CAAA	C	A9518279G	ADAM17	NM_003183.6(ADAM17):c.958-15_958-13del	noncoding	Benign
2	9518259	CAA	C	A9518280G	ADAM17	NM_003183.6(ADAM17):c.958-14_958-13del	noncoding	Benign
2	9518259	CA	C	A9518281G	ADAM17	NM_003183.6(ADAM17):c.958-13del	noncoding	Benign
2	9518259	C	CA	G9518282A	ADAM17	NM_003183.6(ADAM17):c.958-34dup	noncoding	Benign
2	9527669	GC	G	C9527671A	ADAM17	NM_003183.6(ADAM17):c.619+116del	noncoding	Benign
2	9528156	ACT	A	C9528159G	ADAM17	NM_003183.6(ADAM17):c.451-204_451-203del	noncoding	Benign
2	9535930	G	GA	T9535941A	ADAM17	NM_003183.6(ADAM17):c.362-9dup	noncoding	Benign
2	10043427	C	CGGCCGGGCACG	A10043439G	KLF11	Single_allele	noncoding	Benign
2	10047637	CT	C	T10047647A	KLF11	NM_003597.5(KLF11):c.313-3del	noncoding	Benign
2	10048908	C	CT	A10048931T	KLF11	NM_003597.5(KLF11):c.1258+335dup	noncoding	Benign
2	10048908	CT	C	T10048930A	KLF11	NM_003597.5(KLF11):c.1258+335del	noncoding	Benign
2	10048908	CTT	C	T10048929A	KLF11	NM_003597.5(KLF11):c.1258+334_1258+335del	noncoding	Benign
2	10048908	CTTT	C	T10048928A	KLF11	NM_003597.5(KLF11):c.1258+333_1258+335del	noncoding	Benign
2	10052724	G	GT	A10052735T	KLF11	NM_003597.5(KLF11):c.*227dup	noncoding	Benign/Likely_benign
2	11765510	GT	G	T11765519G	LPIN1	NM_001349206.2(LPIN1):c.-9-14del	noncoding	Benign
2	11773601	C	CT	C11773613T	LPIN1	NM_001349206.2(LPIN1):c.597-8dup	noncoding	Benign
2	11773601	CT	C	T11773612C	LPIN1	NM_001349206.2(LPIN1):c.597-8del	noncoding	Benign
2	11775929	TTATA	T	T11775934G	LPIN1	NM_001349206.2(LPIN1):c.723-156TA[2]	noncoding	Benign
2	11779626	AGCTGCCGCAG	A	C11779632T	LPIN1	NM_001349206.2(LPIN1):c.944_953del:p.Pro315fs	coding	Pathogenic
2	11779881	CT	C	T11779895C	LPIN1	NM_001349206.2(LPIN1):c.957+250del	noncoding	Benign
2	11779898	TGA	T	G11779901C	LPIN1	NM_001349206.2(LPIN1):c.957+256_957+257del	noncoding	Benign
2	11787396	TTC	T	C11787398T	LPIN1	NM_001349206.2(LPIN1):c.1643+231_1643+232del	noncoding	Benign
2	11787397	TC	T	C11787398T	LPIN1	NM_001349206.2(LPIN1):c.1643+231del	noncoding	Benign
2	11791805	A	AT	A11791815T	LPIN1	NM_001349206.2(LPIN1):c.1714-100dup	noncoding	Benign
2	11804620	TG	T	G11804625T	LPIN1	NM_001349206.2(LPIN1):c.2162+54del	noncoding	Benign
2	11815217	CA	C	A11815218G	LPIN1	NM_001349206.2(LPIN1):c.2380del:p.Ser794fs	coding	Pathogenic
2	15178946	TA	T	A15178959G	NBAS	NM_015909.4(NBAS):c.6840+41del	noncoding	Benign
2	15179073	AGGAG	A	G15179077C	NBAS	NM_015909.4(NBAS):c.6751_6754del:p.Leu2251fs	coding	Pathogenic
2	15218888	CG	C	G15218892C	NBAS	NM_015909.4(NBAS):c.6316del:p.Arg2106fs	coding	Pathogenic/Likely_pathogenic
2	15238698	G	GAATT	A15238702T	NBAS	NM_015909.4(NBAS):c.5725-13_5725-12insATTA	noncoding	Benign
2	15238698	G	GTAAT	A15238699T	NBAS	NM_015909.4:c.5725-13_5725-12insATTA	noncoding	Benign
2	15275649	CT	C	T15275651C	NBAS	NM_015909.4(NBAS):c.5558del:p.Lys1853fs	coding	Pathogenic
2	15275719	A	ATCCCT	C15275720T	NBAS	NM_015909.4(NBAS):c.5488_5489insAGGGA:p.Val1830fs	coding	Pathogenic
2	15275825	GA	G	A15275834G	NBAS	NM_015909.4(NBAS):c.5390-8del	noncoding	Benign
2	15275831	AAAAG	A	A15275836T	NBAS	NM_015909.4(NBAS):c.5390-17_5390-14del	noncoding	Benign
2	15276977	CA	C	A15276980G	NBAS	NM_015909.4(NBAS):c.5262del:p.Phe1754fs	coding	Pathogenic
2	15277069	T	TGGGCTCTATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA	A15277083T	NBAS	NM_015909.4(NBAS):c.5170_5171insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATAGAGCCC:p.Gln1724delinsLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer	coding	Pathogenic
2	15277156	ATT	A	T15277165A	NBAS	NM_015909.4(NBAS):c.5139-57_5139-56del	noncoding	Benign
2	15287106	AT	A	T15287107A	NBAS	NM_015909.4(NBAS):c.5104del:p.Phe1701_Met1702insTer	coding	Pathogenic
2	15328222	T	TG	A15328224G	NBAS	NM_015909.4(NBAS):c.4437dup:p.Ile1480fs	coding	Pathogenic
2	15328289	AT	TC	A15328289T	NBAS	NM_015909.4(NBAS):c.4370_4371delinsGA:p.Tyr1457Ter	coding	Pathogenic
2	15330714	TGGTCCAGCGCA	T	G15330715A	NBAS	NM_015909.4(NBAS):c.4220_4230del:p.Leu1407fs	coding	Pathogenic
2	15351870	GCACACACACA	G	C15351895A	NBAS	NM_015909.4(NBAS):c.4179+88TG[12]	noncoding	Benign
2	15351870	GCACACACA	G	C15351897A	NBAS	NM_015909.4(NBAS):c.4179+88TG[13]	noncoding	Benign
2	15351870	GCACA	G	C15351901A	NBAS	NM_015909.4(NBAS):c.4179+88TG[15]	noncoding	Benign
2	15352088	CAAG	C	G15352091T	NBAS	NM_015909.4(NBAS):c.4090-10_4090-8del	noncoding	Benign
2	15353727	G	GA	T15353735A	NBAS	NM_015909.4(NBAS):c.3932-18dup	noncoding	Benign
2	15356391	T	TC	G15356396C	NBAS	NM_015909.4(NBAS):c.3842dup:p.Gln1282fs	coding	Pathogenic
2	15366667	G	GAC	T15366670A	NBAS	NM_015909.4(NBAS):c.3728_3729dup:p.Leu1244fs	coding	Pathogenic
2	15379629	AG	A	G15379631T	NBAS	NM_015909.4(NBAS):c.3562del:p.Leu1188fs	coding	Pathogenic
2	15383183	TA	T	A15383192T	NBAS	NM_015909.4(NBAS):c.3360+31del	noncoding	Benign
2	15383321	G	GA	C15383327A	NBAS	NM_015909.4(NBAS):c.3258-5dup	noncoding	Benign
2	15396385	G	GA	C15396397A	NBAS	NM_015909.4(NBAS):c.3134+17dup	noncoding	Benign
2	15396385	G	GC	A15396386C	NBAS	NM_015909.4(NBAS):c.3134+27_3134+28insG	noncoding	Benign
2	15396493	GA	G	A15396503G	NBAS	NM_015909.4(NBAS):c.3072-19del	noncoding	Benign
2	15396493	G	GA	G15396504A	NBAS	NM_015909.4(NBAS):c.3072-19dup	noncoding	Benign
2	15396738	T	TA	T15396746A	NBAS	NM_015909.4(NBAS):c.3072-270dup	noncoding	Benign
2	15417547	G	GT	C15417553T	NBAS	NM_015909.4(NBAS):c.2742dup:p.Leu915fs	coding	Pathogenic
2	15461163	A	AT	A15461164T	NBAS	NM_015909.4(NBAS):c.2339+37_2339+38insA	noncoding	Benign
2	15468147	T	TAATA	G15468149A	NBAS	NM_015909.4(NBAS):c.1877+234_1877+235insTTAT	noncoding	Benign
2	15473318	C	CT	A15473319T	NBAS	NM_015909.4(NBAS):c.1628_1629insA:p.Ser544fs	coding	Pathogenic
2	15474120	AGTTTTTAGTAATG	A	T15474124C	NBAS	NM_015909.4(NBAS):c.1533_1545del:p.Ile512fs	coding	Pathogenic
2	15475743	ACCATTCACAGGATTTTC	A	T15475747G	NBAS	NM_015909.4(NBAS):c.1268_1284del:p.Gly423fs	coding	Pathogenic
2	15478040	C	CATGCTGCATACATACCCTAGGCTCTGACCT	G15478042T	NBAS	NM_015909.4(NBAS):c.1147+185_1147+186insTAGGTCAGAGCCTAGGGTATGTATGCAGCA	noncoding	Benign
2	15511361	GA	G	A15511365T	NBAS	NM_015909.4(NBAS):c.747-12del	noncoding	Benign
2	15534567	G	GT	G15534569T	NBAS	NM_015909.4(NBAS):c.721dup:p.Thr241fs	coding	Pathogenic
2	15536579	T	TA	C15536593A	NBAS	NM_015909.4(NBAS):c.514-41dup	noncoding	Benign
2	15551340	T	TA	G15551355A	NBAS	NM_015909.4(NBAS):c.379+139dup	noncoding	Benign
2	15553863	CCTCTCTCCCTCT	C	C15553882T	NBAS	NM_015909.4(NBAS):c.287+186_287+197del	noncoding	Benign
2	15554040	T	TA	T15554041A	NBAS	NM_015909.4(NBAS):c.287+20_287+21insT	noncoding	Benign
2	15558541	TA	T	A15558543C	NBAS	NM_015909.4(NBAS):c.172+38del	noncoding	Benign
2	15558648	C	CA	C15558655A	NBAS	NM_015909.4(NBAS):c.118-15dup	noncoding	Benign
2	15942267	CGG	C	G15942268A	MYCN	NM_005378.6(MYCN):c.204_205del:p.Glu69fs	coding	Pathogenic
2	15942622	CG	C	G15942623T	MYCN	NM_005378.6(MYCN):c.559del:p.Val187fs	coding	Pathogenic
2	15945536	C	CG	T15945538G	MYCN	NM_005378.6(MYCN):c.835dup:p.Val279fs	coding	Pathogenic
2	17768672	TTAA	T	A17768675T	GEN1	NM_001130009.3(GEN1):c.637-63_637-61del	noncoding	Benign
2	17773083	A	AT	C17773093T	GEN1	NM_001130009.3(GEN1):c.954-4dup	noncoding	Benign
2	17773083	AT	A	T17773092C	GEN1	NM_001130009.3(GEN1):c.954-4del	noncoding	Benign
2	17778138	G	GTA	C17778155T	GEN1	NM_001130009.3(GEN1):c.1264+76TA[9]	noncoding	Benign
2	17778138	GTA	G	T17778153C	GEN1	NM_001130009.3(GEN1):c.1264+76TA[7]	noncoding	Benign
2	17778153	TAC	T	C17778163T	GEN1	NM_001130009.3(GEN1):c.1264+91AC[4]	noncoding	Benign
2	17778153	T	TAC	T17778165C	GEN1	NM_001130009.3(GEN1):c.1264+91AC[6]	noncoding	Benign
2	17778174	GTA	G	T17778187C	GEN1	NM_001130009.3(GEN1):c.1264+112TA[6]	noncoding	Benign
2	17780604	AT	A	T17780612C	GEN1	NM_001130009.3(GEN1):c.1409-9del	noncoding	Benign
2	17781726	CAAGTT	C	A17781727G	GEN1	NM_001130009.3(GEN1):c.2515_2519del:p.Lys839fs	coding	Benign
2	19933420	G	GT	A19933422T	WDR35	NM_020779.4(WDR35):c.2638dup:p.Thr880fs	coding	Pathogenic
2	19935871	G	GAAT	A19935874T	WDR35	NM_020779.4(WDR35):c.2415-269_2415-268insTTA	noncoding	Benign
2	19938373	A	AGTTT	G19938375T	WDR35	NM_020779.4(WDR35):c.1954_1955insAAAC:p.Leu652fs	coding	Pathogenic
2	19941849	C	CA	G19941859A	WDR35	NM_020779.4(WDR35):c.1846-11dup	noncoding	Benign
2	19945935	T	TTA	C19945938T	WDR35	NM_020779.4(WDR35):c.1694_1695dup:p.Thr566Ter	coding	Pathogenic
2	19962516	TGTTA	T	T19962519C	WDR35	NM_020779.4(WDR35):c.1195-1906_1195-1903del	noncoding	Benign
2	19974414	GA	G	A19974427T	WDR35	NM_020779.4(WDR35):c.736+53del	noncoding	Benign
2	19980700	AC	A	C19980701A	WDR35	NM_020779.4(WDR35):c.297del:p.Met99fs	coding	Pathogenic
2	20002161	T	TACACACACAC	G20002193C	MATN3	NM_002381.5(MATN3):c.917-111GT[20]	noncoding	Benign
2	20002161	T	TACAC	G20002193C	MATN3	NM_002381.5(MATN3):c.917-111GT[17]	noncoding	Benign
2	20002161	T	TAC	G20002193C	MATN3	NM_002381.5(MATN3):c.917-111GT[16]	noncoding	Benign
2	20002191	C	CACACACACACAG	G20002193C	MATN3	NM_002381.5(MATN3):c.917-112_917-111insTCTGTGTGTGTG	noncoding	Benign
2	20005662	A	AAAAG	G20005664A	MATN3	NM_002381.5(MATN3):c.790+81_790+82insTCTT	noncoding	Benign
2	20012713	G	GGCCCCGCCCC	G20012730C	MATN3	Single_allele	noncoding	Benign
2	20012713	G	GGCCCCGCCCT	C20012723T	MATN3	Single_allele	noncoding	Benign
2	20012939	CA	C	A20012940G	MATN3	Single_allele	noncoding	Benign
2	21002028	TTC	T	C21002032T	APOB	NM_000384.3(APOB):c.13392_13393del:p.Lys4465fs	coding	Pathogenic
2	21005335	TG	T	G21005337C	APOB	NM_000384.3(APOB):c.11532del:p.Asn3845fs	coding	Pathogenic
2	21005402	CA	C	A21005403C	APOB	NM_000384.3(APOB):c.11465del:p.Val3822fs	coding	Pathogenic
2	21005470	AT	A	T21005474G	APOB	NM_000384.3(APOB):c.11397del:p.Lys3799fs	coding	Pathogenic
2	21005729	GT	G	T21005734G	APOB	NM_000384.3(APOB):c.11138del:p.Asn3713fs	coding	Pathogenic
2	21006696	CT	C	T21006701C	APOB	NM_000384.3(APOB):c.10171del:p.Arg3391fs	coding	Pathogenic
2	21006907	TG	T	G21006908A	APOB	NM_000384.3(APOB):c.9960del:p.Phe3320fs	coding	Pathogenic
2	21007252	TG	T	G21007253T	APOB	NM_000384.3(APOB):c.9615del:p.Asp3205fs	coding	Pathogenic
2	21007546	CGTT	C	G21007550T	APOB	NM_000384.3(APOB):c.9316AAC[1]:p.Asn3107del	coding	Pathogenic
2	21007712	ATTGT	A	T21007717G	APOB	NM_000384.3(APOB):c.9152_9155del:p.Asn3051fs	coding	Pathogenic
2	21008273	A	AT	C21008281T	APOB	NM_000384.3(APOB):c.8594dup:p.Asn2865fs	coding	Pathogenic
2	21008336	C	CAGCA	T21008341A	APOB	NM_000384.3(APOB):c.8528_8531dup:p.Phe2845fs	coding	Pathogenic
2	21008791	G	GAT	C21008800A	APOB	NM_000384.3(APOB):c.8075_8076dup:p.Leu2693fs	coding	Pathogenic
2	21008898	TGGAA	T	A21008901T	APOB	NM_000384.3(APOB):c.7966_7969del:p.Phe2656fs	coding	Pathogenic
2	21009082	T	TC	A21009086C	APOB	NM_000384.3(APOB):c.7785dup:p.Thr2596fs	coding	Pathogenic
2	21010464	AC	A	C21010465T	APOB	NM_000384.3(APOB):c.6403del:p.Val2135fs	coding	Pathogenic
2	21011259	G	GAGTTTAGCCATCGGCTCAACACAGACATCGC	T21011260A	APOB	NM_000384.3(APOB):c.5608_5609insGCGATGTCTGTGTTGAGCCGATGGCTAAACT:p.Thr1870fs	coding	Pathogenic
2	21011261	G	GGGCTGGC	T21011262G	APOB	NM_000384.3(APOB):c.5606_5607insGCCAGCC:p.Asn1869fs	coding	Pathogenic
2	21011876	GA	G	A21011877G	APOB	NM_000384.3(APOB):c.4991del:p.Leu1664fs	coding	Pathogenic
2	21014504	G	GC	T21014505C	APOB	NM_000384.3(APOB):c.3785_3786insG:p.Asn1262fs	coding	Pathogenic
2	21033419	AG	A	G21033420T	APOB	NM_000384.3(APOB):c.1003del:p.Lys334_Leu335insTer	coding	Pathogenic
2	21040988	GGC	G	G21040989T	APOB	NM_000384.3(APOB):c.331_332del:p.Ala111fs	coding	Pathogenic
2	21042359	ACCTTGCAGTTGAT	A	T21042363G	APOB	NM_000384.3(APOB):c.226_237+1del	noncoding	Pathogenic/Likely_pathogenic
2	21043537	CCAGCATTTCCTCTT	C	A21043539T	APOB	NC_000002.12:g.21043538_21043551delCAGCATTTCCTCTT	coding	Pathogenic
2	21043879	CCAG	C	A21043896G	APOB	NM_000384.3(APOB):c.49CTG[5]:p.Leu22del	coding	Benign
2	21043879	C	CCAGCAG	G21043899A	APOB	NM_000384.3(APOB):c.49CTG[8]:p.Leu21_Leu22dup	coding	Benign/Likely_benign
2	24210614	C	CA	G24210635A	ITSN2	NM_006277.3(ITSN2):c.4257+146dup	noncoding	Benign
2	24327998	CA	C	A24328012T	ITSN2	NM_006277.3(ITSN2):c.31+53del	noncoding	Benign
2	24840049	AAAG	A	A24840050G	ADCY3	NM_004036.5(ADCY3):c.1197-21_1197-19del	noncoding	Benign
2	25164738	AG	A	G25164741C	POMC	NM_000939.4(POMC):c.34del:p.Leu12fs	coding	Pathogenic
2	25164989	G	GACC	T25164990A	POMC	NM_000939.4(POMC):c.-20-198_-20-197insGGT	noncoding	Benign
2	25244214	GC	G	C25244216G	DNMT3A	NM_022552.5(DNMT3A):c.1791del:p.Arg598fs	coding	Pathogenic
2	25244294	G	GC	G25244300C	DNMT3A	NM_022552.5(DNMT3A):c.1711dup:p.Ala571fs	coding	Pathogenic
2	25246242	TG	T	G25246243C	DNMT3A	NM_022552.5(DNMT3A):c.1346del:p.Ala449fs	coding	Pathogenic
2	25246289	CT	C	T25246292G	DNMT3A	NM_022552.5(DNMT3A):c.1299del:p.Glu434fs	coding	Pathogenic
2	25248300	GC	G	C25248301A	DNMT3A	NM_022552.5(DNMT3A):c.640-49del	noncoding	Benign
2	25274815	A	AC	T25274816C	DNMT3A	NM_022552.5(DNMT3A):c.639+125_639+126insG	noncoding	Benign
2	25300139	C	CG	T25300146G	DNMT3A	NM_022552.5(DNMT3A):c.176dup:p.Val60fs	coding	Pathogenic
2	25744494	G	GA	C25744502A	ASXL2	NM_018263.6(ASXL2):c.1861-19dup	noncoding	Benign
2	25771543	A	AG	A25771547G	ASXL2	NM_018263.6(ASXL2):c.404-6dup	noncoding	Benign
2	25845464	ATATT	A	T25845467A	ASXL2	NM_018263.6(ASXL2):c.140+13_140+16del	noncoding	Benign
2	26192219	TA	T	A26192234T	HADHA	NM_000182.5(HADHA):c.2000+90del	noncoding	Benign
2	26192219	T	TA	T26192235A	HADHA	NM_000182.5(HADHA):c.2000+76dup	noncoding	Benign
2	26192316	G	GACTT	G26192322C	HADHA	NM_000182.5(HADHA):c.1990_1993dup:p.Ser665Ter	coding	Pathogenic
2	26193293	C	CTT	G26193313T	HADHA	NM_000182.5(HADHA):c.1885+265_1885+266dup	noncoding	Benign
2	26193293	C	CTTT	G26193313T	HADHA	NM_000182.5(HADHA):c.1885+265_1885+267dup	noncoding	Benign
2	26194604	G	GC	A26194606C	HADHA	NM_000182.5(HADHA):c.1654dup:p.Ala552fs	coding	Pathogenic
2	26195090	AC	A	C26195092T	HADHA	NM_000182.5(HADHA):c.1620+1del	noncoding	Pathogenic
2	26195157	TG	T	G26195159A	HADHA	NM_000182.5(HADHA):c.1554del:p.Asp520fs	coding	Pathogenic
2	26195171	GT	G	T26195172C	HADHA	NM_000182.5(HADHA):c.1540del:p.Thr514fs	coding	Pathogenic
2	26195188	CA	C	A26195189G	HADHA	NM_000182.5(HADHA):c.1523del:p.Leu508fs	coding	Pathogenic
2	26195216	T	TAGTGC	T26195223G	HADHA	NM_000182.5(HADHA):c.1491_1495dup:p.Tyr499fs	coding	Pathogenic
2	26197786	G	GA	G26197791A	HADHA	NM_000182.5(HADHA):c.1393-10dup	noncoding	Benign
2	26201221	C	CT	C26201226T	HADHA	NM_000182.5(HADHA):c.1319dup:p.Ala441fs	coding	Pathogenic
2	26212577	TCA	T	C26212580G	HADHA	NM_000182.5(HADHA):c.966_967del:p.Cys322_Glu323delinsTer	coding	Pathogenic
2	26215161	GT	G	T26215165A	HADHA	NM_000182.5(HADHA):c.690del:p.Lys230fs	coding	Pathogenic
2	26231968	CAA	C	A26231988T	HADHA	NM_000182.5(HADHA):c.573+190_573+191del	noncoding	Benign
2	26231968	CA	C	A26231989T	HADHA	NM_000182.5(HADHA):c.573+191del	noncoding	Benign
2	26231968	C	CA	T26231990A	HADHA	NM_000182.5(HADHA):c.573+171dup	noncoding	Benign
2	26234281	AGT	A	G26234282T	HADHA	NM_000182.5(HADHA):c.387_388del:p.Lys129fs	coding	Pathogenic
2	26234316	CTG	C	G26234320T	HADHA	NM_000182.5(HADHA):c.352_353del:p.Gln118fs	coding	Pathogenic
2	26236858	A	AT	A26236860T	HADHA	NM_000182.5(HADHA):c.310dup:p.Ile104fs	coding	Pathogenic
2	26236874	TA	T	A26236877G	HADHA	NM_000182.5(HADHA):c.294del:p.Phe98fs	coding	Pathogenic
2	26238931	TACC	T	A26238932T	HADHA	NM_000182.5(HADHA):c.180_180+2del	noncoding	Pathogenic
2	26239138	TA	T	A26239139T	HADHA	NM_000182.5(HADHA):c.72del:p.Gly23_Tyr24insTer	coding	Pathogenic/Likely_pathogenic
2	26245263	GGTGT	G	T26245277G	HADHB	NM_000183.3(HADHB):c.-9+274GT[6]	noncoding	Benign
2	26254259	C	CCTA	T26254260C	HADHB	NM_000183.3(HADHB):c.5_6insCTA:p.Thr2_Ile3insTyr	coding	Benign
2	26261212	A	AC	A26261223C	HADHB	NM_000183.3(HADHB):c.110-2158dup	noncoding	Benign
2	26261212	A	ACC	A26261223C	HADHB	NM_000183.3(HADHB):c.110-2159_110-2158dup	noncoding	Benign
2	26261212	AC	A	C26261222A	HADHB	NM_000183.3(HADHB):c.110-2158del	noncoding	Benign
2	26263298	TA	T	A26263315G	HADHB	NM_000183.3(HADHB):c.110-65del	noncoding	Benign
2	26279195	GC	G	C26279197G	HADHB	NM_000183.3(HADHB):c.693del:p.Ala232fs	coding	Pathogenic
2	26279280	G	GT	A26279281T	HADHB	NM_000183.3(HADHB):c.776_777insT:p.Leu260fs	coding	Pathogenic
2	26282897	TG	T	G26282900T	HADHB	NM_000183.3(HADHB):c.989del:p.Gly330fs	coding	Pathogenic
2	26414115	CATTATT	C	A26414140G	DRC1	NM_145038.5(DRC1):c.156-228ATT[8]	noncoding	Benign
2	26414115	CATT	C	A26414143G	DRC1	NM_145038.5(DRC1):c.156-228ATT[9]	noncoding	Benign
2	26414115	C	CATTATTATT	G26414146A	DRC1	NM_145038.5(DRC1):c.156-228ATT[13]	noncoding	Benign
2	26414115	C	CATTATT	G26414146A	DRC1	NM_145038.5(DRC1):c.156-228ATT[12]	noncoding	Benign
2	26414115	C	CATT	G26414146A	DRC1	NM_145038.5(DRC1):c.156-228ATT[11]	noncoding	Benign
2	26421387	A	AT	A26421389T	DRC1	NM_145038.5(DRC1):c.344dup:p.Arg117fs	coding	Pathogenic
2	26421557	C	CT	G26421578T	DRC1	NM_145038.5(DRC1):c.356+177dup	noncoding	Benign
2	26440319	TTG	T	G26440345A	DRC1	NM_145038.5(DRC1):c.889-58TG[12]	noncoding	Benign
2	26440319	T	TTG	A26440347G	DRC1	NM_145038.5(DRC1):c.889-58TG[14]	noncoding	Benign
2	26440319	T	TTGTG	A26440347G	DRC1	NM_145038.5(DRC1):c.889-58TG[15]	noncoding	Benign
2	26440362	G	GT	A26440370T	DRC1	NM_145038.5(DRC1):c.889-9dup	noncoding	Benign
2	26448759	GA	G	A26448765C	DRC1	NM_145038.5(DRC1):c.1471del:p.Thr491fs	coding	Pathogenic
2	26454702	TC	T	C26454703G	DRC1	NM_145038.5(DRC1):c.1976del:p.Ser659fs	coding	Pathogenic
2	26455249	T	TA	T26455250A	DRC1	NM_145038.5(DRC1):c.2166+16_2166+17insA	noncoding	Benign
2	26459948	G	GTGTA	G26459952A	OTOF	NM_194248.3(OTOF):c.*17+59_*17+60insACAT	noncoding	Benign
2	26460659	A	AG	T26460665G	OTOF	NM_194248.3(OTOF):c.5800dup:p.Leu1934fs	coding	Pathogenic/Likely_pathogenic
2	26461697	CA	C	A26461698G	OTOF	NM_194248.3(OTOF):c.5531del:p.Leu1844fs	coding	Pathogenic
2	26462159	AGAT	A	T26462165C	OTOF	NM_194248.3(OTOF):c.5209ATC[1]:p.Ile1738del	coding	Pathogenic
2	26464943	TG	T	G26464948C	OTOF	NM_194248.3(OTOF):c.4885del:p.His1629fs	coding	Pathogenic
2	26467044	TG	T	G26467052C	OTOF	NM_194248.3(OTOF):c.4362+54del	noncoding	Benign
2	26475532	A	AG	C26475541G	OTOF	NM_194248.3(OTOF):c.2992-47dup	noncoding	Benign
2	26476023	TGGAACGCCTGCTTCTCTGTG	T	A26476026G	OTOF	NM_194248.3(OTOF):c.2867-5_2881del	coding	Pathogenic
2	26477951	TGG	T	G26477955T	OTOF	NM_194248.3(OTOF):c.2215-204_2215-203del	coding	Benign
2	26479189	GT	G	T26479191C	OTOF	NM_194248.3(OTOF):c.2214+74del	noncoding	Benign
2	26479584	T	TC	G26479590C	OTOF	NM_194248.3(OTOF):c.1981dup:p.Asp661fs	coding	Pathogenic
2	26479599	C	CG	C26479604G	OTOF	NM_194248.3(OTOF):c.1966dup:p.Arg656fs	coding	Pathogenic
2	26479603	G	GC	G26479606C	OTOF	NM_194248.3(OTOF):c.1962dup:p.Pro655fs	coding	Pathogenic
2	26482515	TG	T	G26482521A	OTOF	NM_194248.3(OTOF):c.1469del:p.Pro490fs	coding	Pathogenic
2	26483460	AC	A	C26483462T	OTOF	NM_194248.3(OTOF):c.1392+1del	noncoding	Pathogenic
2	26483488	CGT	GCAA	C26483488G	OTOF	NM_194248.3(OTOF):c.1364_1366delinsTTGC:p.Tyr455fs	coding	Pathogenic
2	26489145	GGCCCCGTGCACCAC	G	C26489148T	OTOF	NM_194248.3(OTOF):c.1045+52_1045+65del	noncoding	Benign
2	26494656	T	TA	G26494657A	OTOF	NM_194248.3(OTOF):c.897+285_897+286insT	noncoding	Benign
2	26494663	G	GT	G26494664T	OTOF	NM_194248.3(OTOF):c.897+278_897+279insA	noncoding	Benign
2	26495264	CA	C	A26495266G	OTOF	NM_194248.3(OTOF):c.766-192del	noncoding	Benign
2	26527899	T	TGGCCACC	A26527915G	OTOF	NM_194248.3(OTOF):c.153_159dup:p.Ser54fs	coding	Pathogenic
2	26558817	CGT	C	T26558837C	OTOF	Single_allele	noncoding	Benign
2	27053100	T	TC	T27053102C	AGBL5	NM_021831.6(AGBL5):c.143dup:p.Ser49fs	coding	Pathogenic
2	27054612	A	AT	C27054622T	AGBL5	NM_021831.6(AGBL5):c.552-9dup	noncoding	Benign
2	27054612	AT	A	T27054621C	AGBL5	NM_021831.6(AGBL5):c.552-9del	noncoding	Benign
2	27054762	T	TC	T27054765C	AGBL5	NM_021831.6(AGBL5):c.686dup:p.Pro229_Asp230insTer	coding	Pathogenic
2	27055135	GGCTT	G	G27055136T	AGBL5	NM_021831.6(AGBL5):c.791_794del:p.Gly264fs	coding	Pathogenic
2	27056022	CCT	C	C27056023G	AGBL5	NM_021831.6(AGBL5):c.1250_1251del:p.Pro417fs	coding	Pathogenic
2	27067474	CTTG	C	T27067476A	AGBL5	NM_021831.6(AGBL5):c.2090-18_2090-16del	noncoding	Benign
2	27070071	CCT	C	C27070078T	AGBL5	NM_021831.6(AGBL5):c.2490-20CT[3]	noncoding	Benign
2	27079210	GC	G	C27079216G	EMILIN1	NM_007046.4(EMILIN1):c.151del:p.Arg51fs	coding	Pathogenic
2	27082401	C	CA	G27082403A	EMILIN1	NM_007046.4(EMILIN1):c.831dup:p.Ala278fs	coding	Pathogenic
2	27084428	G	GGCTGGGCCCCCAGGGCCTCCTGGGCT	A27084457T	EMILIN1	NM_007046.4(EMILIN1):c.2457_2482dup:p.Gln828fs	coding	Pathogenic
2	27222313	CT	C	T27222314G	CAD	NM_004341.5(CAD):c.473del:p.Leu158fs	coding	Pathogenic
2	27222447	G	GT	G27222450T	CAD	NM_004341.5(CAD):c.496-70dup	noncoding	Benign
2	27224406	TC	T	C27224408A	CAD	NM_004341.5(CAD):c.1172del:p.Pro391fs	coding	Pathogenic
2	27225303	C	CTTT	G27225324T	CAD	NM_004341.5(CAD):c.1620+78_1620+80dup	noncoding	Benign
2	27225549	A	ACCC	G27225557C	CAD	NM_004341.5(CAD):c.1621-151_1621-149dup	noncoding	Benign
2	27225549	A	AC	G27225557C	CAD	NM_004341.5(CAD):c.1621-149dup	noncoding	Benign
2	27226844	A	AG	T27226850G	CAD	NM_004341.5(CAD):c.2174dup:p.Thr726fs	coding	Pathogenic
2	27234511	G	GC	A27234516C	CAD	NM_004341.5(CAD):c.3619-3dup	noncoding	Benign
2	27239721	C	CA	G27239723A	CAD	NM_004341.5(CAD):c.5420dup:p.Asp1808fs	coding	Pathogenic
2	27241151	A	AC	A27241157C	CAD	NM_004341.5(CAD):c.5737dup:p.Gln1913fs	coding	Pathogenic
2	27241411	CG	C	G27241416T	CAD	NM_004341.5(CAD):c.5883+20del	noncoding	Benign
2	27243390	CT	C	T27243411G	CAD	NM_004341.5(CAD):c.6576-5del	noncoding	Benign
2	27243390	CTT	C	T27243410G	CAD	NM_004341.5(CAD):c.6576-6_6576-5del	noncoding	Benign
2	27243390	CTTT	C	T27243409G	CAD	NM_004341.5(CAD):c.6576-7_6576-5del	noncoding	Benign
2	27312230	AG	A	G27312233C	MPV17	NM_002437.5(MPV17):c.391del:p.Ile132fs	coding	Pathogenic
2	27312443	T	TG	C27312447G	MPV17	NM_002437.5(MPV17):c.375+48dup	noncoding	Benign
2	27312694	TCT	ACA	T27312694A	MPV17	NM_002437.5(MPV17):c.263_265delinsTGT:p.Lys88_Met89delinsMetLeu	coding	Pathogenic/Likely_pathogenic
2	27312994	CA	C	A27312995C	MPV17	NM_002437.5(MPV17):c.185del:p.Val62fs	coding	Pathogenic/Likely_pathogenic
2	27313040	TG	T	G27313042T	MPV17	NM_002437.5(MPV17):c.139del:p.Gln47fs	coding	Pathogenic
2	27322462	TG	T	G27322463T	MPV17	NM_002437.5(MPV17):c.55del:p.Gln19fs	coding	Pathogenic
2	27366677	G	GTT	A27366679T	EIF2B4	NM_001034116.2(EIF2B4):c.1191+81_1191+82insAA	noncoding	Benign
2	27369223	TA	T	A27369234T	EIF2B4	NM_001034116.2(EIF2B4):c.212-12del	noncoding	Benign
2	27369223	T	TA	T27369235A	EIF2B4	NM_001034116.2(EIF2B4):c.212-12dup	noncoding	Benign
2	27369337	GTCTCTCCCTTA	G	T27369346A	EIF2B4	NM_001034116.2(EIF2B4):c.211+66_211+76del	noncoding	Benign
2	27369401	AC	A	C27369405T	EIF2B4	NM_001034116.2(EIF2B4):c.211+12del	noncoding	Benign
2	27444653	T	TTTTG	T27444665G	IFT172	NM_015662.3(IFT172):c.5161-140CAAA[3]	noncoding	Benign
2	27444951	G	GT	C27444961T	IFT172	NM_015662.3(IFT172):c.5160+62dup	noncoding	Benign
2	27445805	AG	A	G27445806A	IFT172	NM_015662.3(IFT172):c.4853del:p.Ser1618fs	coding	Pathogenic
2	27445954	A	AG	A27445957G	IFT172	NM_015662.3(IFT172):c.4789dup:p.Leu1597fs	coding	Pathogenic
2	27446132	TAGG	T	G27446137C	IFT172	NM_015662.3(IFT172):c.4755+125_4755+127del	noncoding	Benign
2	27446331	CAGAA	C	A27446334C	IFT172	NM_015662.3(IFT172):c.4680_4683del:p.Ser1561fs	coding	Pathogenic
2	27446474	AT	A	T27446476C	IFT172	NM_015662.3(IFT172):c.4660-120del	coding	Benign
2	27446498	G	GT	C27446509T	IFT172	NM_015662.3(IFT172):c.4660-153dup	noncoding	Benign
2	27447576	G	GT	C27447578T	IFT172	NM_015662.3(IFT172):c.4597dup:p.Thr1533fs	coding	Pathogenic
2	27447578	CTT	C	T27447579G	IFT172	NM_015662.3(IFT172):c.4594_4595del:p.Lys1532fs	coding	Pathogenic
2	27449528	A	AC	T27449530C	IFT172	NM_015662.3(IFT172):c.4194dup:p.Phe1399fs	coding	Pathogenic
2	27459783	TA	T	A27459784G	IFT172	NM_015662.3(IFT172):c.2567del:p.Leu856fs	coding	Pathogenic
2	27462737	CT	C	T27462741C	IFT172	NM_015662.3(IFT172):c.2078del:p.Lys693fs	coding	Pathogenic
2	27472038	CA	C	A27472053G	IFT172	NM_015662.3(IFT172):c.1524+211del	noncoding	Benign
2	27476708	CCT	C	T27476712A	IFT172	NM_015662.3(IFT172):c.1342_1343del:p.Arg448fs	coding	Pathogenic
2	27477570	CA	C	A27477573G	IFT172	NM_015662.3(IFT172):c.1209del:p.Phe403fs	coding	Pathogenic
2	27478046	G	GT	G27478048T	IFT172	NM_015662.3(IFT172):c.1115dup:p.His372fs	coding	Pathogenic
2	27478083	AC	A	C27478085T	IFT172	NM_015662.3(IFT172):c.1078del:p.Glu359_Val360insTer	coding	Pathogenic
2	27481425	TCA	T	C27481452T	IFT172	NM_015662.3(IFT172):c.571-193TG[13]	noncoding	Benign
2	27481425	T	TCA	T27481454C	IFT172	NM_015662.3(IFT172):c.571-193TG[15]	noncoding	Benign
2	27485140	T	TA	G27485154A	IFT172	NM_015662.3(IFT172):c.184-23dup	noncoding	Benign
2	27497406	AAG	A	G27497408C	GCKR	NM_001486.4(GCKR):c.216+9_216+10del	noncoding	Benign
2	28783757	G	GA	G28783770A	PPP1CB	NM_002709.3(PPP1CB):c.521-138dup	noncoding	Benign
2	28788471	TTGTA	T	T28788474G	PPP1CB	NM_002709.3(PPP1CB):c.593-184_593-181del	noncoding	Benign
2	28798948	CA	C	A28798953G	PPP1CB	NM_002709.3(PPP1CB):c.880-246del	noncoding	Benign
2	29070719	CAG	C	A29070722C	PCARE	NM_001029883.3(PCARE):c.3541_3542del:p.Leu1181fs	coding	Pathogenic
2	29070872	CAG	C	A29070877G	PCARE	NM_001029883.3(PCARE):c.3388_3389del:p.Leu1130fs	coding	Pathogenic
2	29070912	CCAGA	C	G29070915C	PCARE	NM_001029883.3(PCARE):c.3346_3349del:p.Ser1116fs	coding	Pathogenic
2	29070946	CAG	C	A29070949T	PCARE	NM_001029883.3(PCARE):c.3314_3315del:p.Asp1104_Ser1105insTer	coding	Pathogenic
2	29070995	T	TG	A29071000G	PCARE	NM_001029883.3(PCARE):c.3266dup:p.Ser1090fs	coding	Pathogenic
2	29071078	CG	C	G29071084A	PCARE	NM_001029883.3(PCARE):c.3183del:p.Glu1062fs	coding	Pathogenic
2	29071112	T	TG	A29071117G	PCARE	NM_001029883.3(PCARE):c.3149dup:p.Pro1051fs	coding	Pathogenic
2	29071162	C	CCCTG	A29071163C	PCARE	NM_001029883.3(PCARE):c.3099_3100insCAGG:p.Val1034fs	coding	Pathogenic
2	29071267	TC	T	C29071269T	PCARE	NM_001029883.3(PCARE):c.2994del:p.Thr999fs	coding	Pathogenic
2	29071295	A	AG	C29071302G	PCARE	NM_001029883.3(PCARE):c.2966dup:p.Val990fs	coding	Pathogenic
2	29071295	AG	A	G29071301C	PCARE	NM_001029883.3(PCARE):c.2966del:p.Pro989fs	coding	Pathogenic
2	29071301	GC	G	C29071302T	PCARE	NM_001029883.3(PCARE):c.2960del:p.Ser987fs	coding	Pathogenic
2	29071346	G	GGTCCTGTTTT	A29071361T	PCARE	NM_001029883.3(PCARE):c.2906_2915dup:p.Ser973fs	coding	Pathogenic
2	29071466	T	TTGGCTGG	G29071484C	PCARE	NM_001029883.3(PCARE):c.2789_2795dup:p.Gln932fs	coding	Pathogenic/Likely_pathogenic
2	29071481	TG	T	G29071484C	PCARE	NM_001029883.3(PCARE):c.2780del:p.Pro927fs	coding	Pathogenic
2	29071595	C	CA	G29071597A	PCARE	NM_001029883.3(PCARE):c.2666dup:p.Asp890fs	coding	Pathogenic
2	29071606	C	CAG	G29071611A	PCARE	NM_001029883.3(PCARE):c.2654_2655dup:p.Val886fs	coding	Pathogenic
2	29071931	CA	C	A29071934G	PCARE	NM_001029883.3(PCARE):c.2330del:p.Leu777fs	coding	Pathogenic
2	29071963	TG	T	G29071969C	PCARE	NM_001029883.3(PCARE):c.2298del:p.Arg767fs	coding	Pathogenic/Likely_pathogenic
2	29071998	G	GCCCCAGCGTCCTTAGAGTC	A29072025G	PCARE	NM_001029883.3(PCARE):c.2245_2263dup:p.Ala755delinsGlyLeuTer	coding	Pathogenic
2	29072413	TCTGGACCC	T	C29072414T	PCARE	NM_001029883.3(PCARE):c.1841_1848del:p.Arg614fs	coding	Pathogenic
2	29072928	G	GA	G29072930A	PCARE	NM_001029883.3(PCARE):c.1333dup:p.Ser445fs	coding	Pathogenic
2	29073041	GC	G	C29073043T	PCARE	NM_001029883.3(PCARE):c.1220del:p.Gly407fs	coding	Pathogenic
2	29073277	CTA	C	T29073278G	PCARE	NM_001029883.3(PCARE):c.983_984del:p.Leu328fs	coding	Pathogenic
2	29073303	CG	C	G29073304T	PCARE	NM_001029883.3(PCARE):c.958del:p.Arg320fs	coding	Pathogenic/Likely_pathogenic
2	29073545	AT	A	T29073546C	PCARE	NM_001029883.3(PCARE):c.716del:p.Asp239fs	coding	Pathogenic
2	29073803	CG	C	G29073804T	PCARE	NM_001029883.3(PCARE):c.458del:p.Thr153fs	coding	Pathogenic
2	29073856	CCTCA	C	A29073860T	PCARE	NM_001029883.3(PCARE):c.402_405del:p.Ser134fs	coding	Pathogenic/Likely_pathogenic
2	29074113	CA	C	A29074114G	PCARE	NM_001029883.3(PCARE):c.148del:p.Cys50fs	coding	Pathogenic
2	29194009	CAT	C	A29194012T	ALK	NM_004304.5(ALK):c.4165-89_4165-88del	noncoding	Benign
2	29197429	AG	A	G29197432A	ALK	NM_004304.5(ALK):c.4073+112del	noncoding	Benign
2	29206875	C	CTT	C29206876T	ALK	NM_004304.5(ALK):c.3938+295_3938+296insAA	noncoding	Benign
2	29207276	T	TG	A29207281G	ALK	NM_004304.5(ALK):c.3837-8dup	noncoding	Benign
2	29207278	G	GGGA	A29207282G	ALK	NM_004304.5(ALK):c.3837-9_3837-7dup	noncoding	Benign/Likely_benign
2	29209542	CAAAAAAAAAA	C	A29209554G	ALK	NM_004304.5(ALK):c.3836+234_3836+243del	noncoding	Benign
2	29209542	CAA	C	A29209562G	ALK	NM_004304.5(ALK):c.3836+242_3836+243del	noncoding	Benign
2	29209542	CA	C	A29209563G	ALK	NM_004304.5(ALK):c.3836+243del	noncoding	Benign
2	29226904	CT	C	T29226905G	ALK	NM_004304.5(ALK):c.3067+17del	noncoding	Benign
2	29227424	ATGTGGTGACC	A	T29227427C	ALK	NM_004304.5(ALK):c.2914+140_2914+149del	noncoding	Benign
2	29228809	A	AGGGCG	A29228814G	ALK	NM_004304.5(ALK):c.2815+74_2815+75insGCCCC	noncoding	Benign
2	29232035	G	GCAAGTTGGTAAAACC	G29232038A	ALK	NM_004304.5(ALK):c.2632+268_2632+269insTGGGTTTTACCAACT	noncoding	Benign
2	29232292	G	GC	A29232294C	ALK	NM_004304.5(ALK):c.2632+11dup	noncoding	Benign/Likely_benign
2	29233999	T	TG	T29234000G	ALK	NM_004304.5(ALK):c.2356-304_2356-303insC	noncoding	Benign
2	29296722	A	AGTGT	C29296742T	ALK	NM_004304.5(ALK):c.1817+148AC[11]	noncoding	Benign
2	29296722	A	AGTGTGT	C29296742T	ALK	NM_004304.5(ALK):c.1817+148AC[12]	noncoding	Benign
2	31339696	GCA	G	C31339699G	XDH	NM_000379.4(XDH):c.3586-21_3586-20del	noncoding	Benign
2	31350103	GC	G	C31350109A	XDH	NM_000379.4(XDH):c.2751del:p.Gln919fs	coding	Pathogenic
2	31368518	ACAGG	A	G31368522C	XDH	NM_000379.4(XDH):c.2100+19_2100+22del	noncoding	Benign/Likely_benign
2	31376778	T	TAATAGTAAC	G31376795A	XDH	NM_000379.4(XDH):c.1427+266_1427+274dup	noncoding	Benign
2	31377129	CCTGTACCT	C	A31377134G	XDH	NM_000379.4(XDH):c.1343_1350del:p.Glu448fs	coding	Pathogenic
2	31386865	G	GC	A31386868C	XDH	NM_000379.4(XDH):c.652-312dup	noncoding	Benign
2	31387815	A	AGC	A31387816G	XDH	NM_000379.4(XDH):c.646_647insGC:p.Leu216fs	coding	Pathogenic
2	31387820	TG	T	G31387825A	XDH	NM_000379.4(XDH):c.641del:p.Pro214fs	coding	Pathogenic
2	31397742	G	GA	C31397749A	XDH	NM_000379.4(XDH):c.434-19dup	noncoding	Benign
2	31526104	CGG	C	G31526106A	SRD5A2	NM_000348.4(SRD5A2):c.*90_*91del	noncoding	Benign
2	31533690	TG	T	G31533691C	SRD5A2	NM_000348.4(SRD5A2):c.357del:p.Phe118_Cys119insTer	coding	Pathogenic
2	31580806	CCGGAGGGCTTCGCG	C	C31580807A	SRD5A2	NM_000348.4(SRD5A2):c.81_94del:p.Ala28fs	coding	Pathogenic
2	31581061	G	GC	T31581062C	SRD5A2	Single_allele	noncoding	Benign
2	31581215	C	CG	C31581217G	SRD5A2	Single_allele	noncoding	Benign
2	31581218	AT	A	T31581219A	SRD5A2	Single_allele	noncoding	Benign
2	32063895	C	CCCAGGCCTCCGCCCCCTTG	T32063917A	SPAST	NM_014946.4(SPAST):c.67_85dup:p.Leu29fs	coding	Pathogenic/Likely_pathogenic
2	32063898	A	AGGCCTCCGCCCCCTTGCCT	C32063922T	SPAST	NM_014946.4(SPAST):c.72_90dup:p.Pro31fs	coding	Pathogenic
2	32064042	CT	C	T32064043G	SPAST	NM_014946.4(SPAST):c.212del:p.Leu71fs	coding	Pathogenic
2	32064089	CAT	C	A32064090G	SPAST	NM_014946.4(SPAST):c.259_260del:p.Met87fs	coding	Pathogenic
2	32064219	GCC	G	C32064221T	SPAST	NM_014946.4(SPAST):c.390_391del:p.Leu131fs	coding	Pathogenic
2	32064222	C	CGGT	T32064223G	SPAST	NM_014946.4(SPAST):c.391_392insGGT:p.Ala130_Leu131insArg	coding	Pathogenic
2	32087521	TATAAG	T	T32087523A	SPAST	NM_014946.4(SPAST):c.447_451del:p.Tyr149_Lys151delinsTer	coding	Pathogenic
2	32087523	TAAGA	T	A32087527G	SPAST	NM_014946.4(SPAST):c.451_454del:p.Lys151fs	coding	Pathogenic
2	32087560	G	GT	A32087563T	SPAST	NM_014946.4(SPAST):c.486dup:p.Ile163fs	coding	Pathogenic
2	32087569	AC	A	C32087570A	SPAST	NM_014946.4(SPAST):c.494del:p.Thr165fs	coding	Pathogenic
2	32089598	AC	A	C32089599T	SPAST	NM_014946.4(SPAST):c.580del:p.Leu194fs	coding	Pathogenic
2	32114644	GAGCTGTTCCAAAAAGAAAAGACCCCTTAACACACACTAGTAATTCACTGCCTCGTTCAAAAACAGTTATGAAAACTGGATCTGCAGGCCTTTCAGGCCACCATAGAGCACCTAGTTACAGTGGTTTATCCATGGTTTCTGGAGTGAAACAGGGATCTGGTCCTGCTCCTACCACTCATAAGGTATTCTGGGACAGTAACTTTAATTGCTGTCTTTTTGCAAATAGAAAAATTTTTAAGATACTATTCCTGCTTAAGTTGATCATAAGTACTTTATAATACTTTAGAGAATGGATAAGTTTCCATAAAGTTAAATTTTTTTTTTTTTTTTTTGAGACTCTTGTTTTCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGTCGAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCAAAGTTAATTTTTTTTTAAATCCACAGGGCAACTTGCTATAAAACTTTTTTTGGACCTCATTAGACATTTAATACCAAGTTTTGCTTACCCAGTCTGTTTTATATAATGCTGTATATTTCATTTTAAATTTATTTTTAAAATTATTTCAATCTTTGTAAATGTTTTATACCAGTAACATACCTAGAGTTTTGTCATGATTCTAACAAGGGTTAAAATTTGTTTTTATTTTGTAAAAACTAAATCTCTGGATAAAATCCTCTATAACTGACTTAATGCCAAATATAGTTCTCTAGTGAATACAGTTTTACCTTCAGGTAAATAAATATACAATTTATGGATTTTTATACCCTTTTTCCTATTTTTAAAGCTTGAATTCTGTGAACTTTAAGGTTAACTTATTTATGAAAAGTGTAAATGTTAGGTTGTATTTTCATATTAAAATTTTGTATCCTTTAAGGGTACTCCGAAAACAAATAGGACAAATAAACCTTCTACCCCTACAACTGCTACTCGTAAGAAAAAAGACTTGAAGAATTTTAGGAATGTGGACAGCAACCTTGCTAACCTTATAATGAATGAAATTGTGGACAAGTAAGTTTTGCCATCTAAATGTTTTATTTTATAGTTTTTATATTTTAATTTTACTTATAAAACATGTCAGGAGTGAAATAGATAATAAATACCTTGTCTGGTTTACATACTTAATTTTTATGATAGTTTTCAATTATAAATGTAGAAAACCATTGCTTTACTGATTTAACTATAGTTTAACAGTTAACATTAAAAATAACTATATGTCATAGGGCTTAGGCTTCATCTTGTAATAACTGGGCCCTGTTTGTATCGTAGAACTAACTGAGGTCTTGTTTCTTAGTGGAACAGCTGTTAAATTTGATGATATAGCTGGTCAAGACTTGGCAAAACAAGCATTGCAAGAAATTGTTATTCTTCCTTCTCTGAGGCCTGAGGTAAGAACTTTATATTATCATTTTTCTATAATACCATCTGTTACTGAATCCATAGTAGTAGTAGTAGTAAAGAAATATTTGAGCTATACTAAAATAATTAATTCATATAAGGTAACAATAGATTTAATGTTTTAAAAAAGATAAAACATTAACAATTGATGTTGAGAAGTTATTATAGAATAGGAAAATGGATATGAGTTCCTAATTTCCAATCCTTTTATATTTTTAGGAAAAGTGGGTAGTATGATATAATTTTGTTTTGTTTTGGAGACGGAGTCTCACTCATTGTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCGTCCCAGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACTATGCCCAGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTTGCTATATTGGCCAGGCTGGTCTTTCATACCTGATGTCAAGTTATCCACCCATTTCGGCCTCCCAGAGTGTTAGGATTACAAGTGTGAGTCACTACATCTGGCCAAATTTTGATATCAAGGTGAGAGAGATTTAAAATTAAGATAAGGTACAAAAATTAGCCTAGTGTGGGGGCGCACGCTTGTAGTCCCAACTACTGGGGAGGCTGTGGCAGGAGAATTGCTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTCCATCCTGGGTGACAGAGCGAGATGTCATCTCAAAAACAAAACAGGCCGGGTACGGTAGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCTGTCTTTACTAAAATTACAAAAATTAGCTGGGCTTGGTGGTGTGTAACCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAAAATTTAAAAAGATAAATACATAAAAATAAATAAATAATATTAAGAGAAGGAAATCAGGCAGGTAGTGGCCCCTGACACAATGAGTTTTCCCAGAATTGGATTGCTTGGAAATGCCGCTCAAAGAGTGTGGTAAACTCCATCGAAGGCTAAATACCAACGTGACAGTGATAATAAACAAGTACTTTATGGGAAAGTTTTTTTTTTAATTATTTTTAAAAAGAGAGAAATTGTACTGGAGAAAAGAGGAATTCAGGTAGAATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATTTTGCTCCTGTTACCCAGGCTGGAGTGCAGTGGCTTGATGTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGTGATTCTCATGCCTCATCCTCCTGAGTAGCTGGGTCTATAGGCATGCACCCCAACACCTGGCTAATTTTTGTGTTTTTAGTAGAGATAGGGTTTTACCATTTTGGCCAGGCTGGTCTCAAACTCCTGGCTTCAGATGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCAGAGGCCACTGTGCCTGGCATGAAGAACAATTTTTAAAAGAATGACTTTTAAGGATATTAAGTCATCAAAGTAGATAGAGCCATTAAATGATGGGTAGAAACCTAATCTTCCATCCCATATTTTATGACTTATTAAGGAAGATAGGCAATCTTGCAGTTGATAATAAATATTTGGCTTTCCATACTTAGCACCGTTTTGAATTTTTCCAGTTCACAGATGGTATATTTAGTGCTGTTCCAATAATATTGCAAAAAATAAATCTGAAGACTCACTTCTGGGTCACAGTTATTTCACTATTAACATTAAAATCTTACGGACCTACCTGCAACATGTAGTGGAAATAAGTTGTGTGGCACGTTGTGGTGGGTGCATTATTAAATAAATGTGCAAAGGTTTTATGGCTGTCTCAATTTTTCCATAGTCTTGAGTCATTCACATACTGCCTTTATGGTGTTTATCACTTGTAAGTGAGTACCAACTGTACTAGAACTTACTGAATATTTTTCAAGTCTATTTTACTTATTACTCATTCTAAGTACATAAAATCACTGGTCTGATATGCAAGTTAGGTTTTCGCTAATACCCAGTAAAATAATTAGATAATTATTAAAATAGAAAGCATTTGTCATTATGTGAACTGGATTTATGTCATGTACCACCTCAGGTCACACTTTGGGAAACGTAGCTTACGTATTGAGCTAACATTTTGCTGGAGTTATATAAGATTAGTAAATGCTATAGACTAAATATTGAAAAAAAAGCTTGCTTAAAGAGGATTTACATAATTGTAGACCTGAAAAGGATCTTAGCAGTCTTCTGATCGATTCATTGATAAAGAAACTAGTCCTAAGAGCTAAAATGACTTGCTCAAGATTTTAGTTAAGTGGTAGACCTAGGAAATACCTTTCTAAGATTAGAGCTGCCTGGTTAGTGCTATAGCTGCCACCTAATTCTTACATTTATTTATTAAGGGACATGCTTTTTACGGTAGAAAAATATATCTAAAATTGTGAAGGTAATACCAAGGAAATATTTAGGCTATGCAAGAAAAGTCATTCAGCTTTTGCTTTACCCAGGCCTATAGAGAACATATCTAAAATAATAAGTAACATGTGAATTTGAATTTAGGCATATTTTCATGGTAGTGACATAATGTGCAATTAAGAAGCTATAATAATGTAAAAATGCCAGTTGCAAGTTATTTCAAATAAAGTTGAATAACCTGACCTCAGGAGGGGCAGAAACCTTAGTAAACTTAGCAAACTGAGACCTAAGGAAGAGCAAGATCTGTGGTAGAGCCAGGTCTAAAGGTTTATATCCTGGTACAAACTTGTCTATACATCACCACACCTGCCAAATGGAACTTTTTTTCCTTGTAGTTCAGATTTCCAAGAAAGGGAATATTATTGTCCTAGCTCAGCGTTTCACAATAGACTCACAAAATGAATCTTGTTAAGCCTATGAATGGGTAAGACTTATCCCATAACACGCCTCTATTGTGTAAAAAAATCAGCTTTATTCCTAATTCCCTGTAGTAGGAAGCTTGCATAGACCACAATAGAGACATTGTTAGATTATATCAAGAAGGTGAGTGGCAGGCATTCTTGAGTATACTGGAATTTTTATTTCATTGTAGAAACACAGAATCATAATTAGTCATCTAAAACTGGTTTTAAGGAGATAATACTAAAGATACTCACTTGAGGTAGATTGTTCTCAGAATTACTTAAAATAAGTGCTTTAAATCTTGCTCATTCATGAAGCCATAGCCCTGGAAGGAGATATTGAAAAACTTCTCCATCTTCCTTCAATCCCATAGGACCATGTTTTTAATTGTAGTTTAACATTAAACATAATTTTTGAAAGTAGCCAATATTAATCTTTGACAAAAAACTCAAACTAAATAGCAGAAAATAGAACATGCCCTCTCCTCTCGCCCAAAAGTAAGACTACATTTTAAAGTATATCACAGTGATCTGTCTAAATATTTTTCTCAAATATTTTACTAAGAAAGCGTATATTCTTCTGTCCTTATTTCATAGATCTCTTCTGTATCCTGTGCAGCTTGTCTATCATTTCGAGCTTTTATATTTCTTATTTTGTTCTCTTGCTGCTTAAATGTGATTCTTTGAGATTTATAGAAGAATGTGATTGTTCTCCAGTTTTAAAAAGCTCTTCTCTATCTACTAAAATTTCCATGAATTTCTTTCTTTCTTTTTTTTTTTTTGATTGAGACAGTCTCGCTGTGTTCTCCAGCGTGGCCTTAGGCTTAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGAAATTTCCATGAATTTCCAAATATGATGTTATCTTTCATATAAGCTTAAACATAAGCCTTTCTTCTTTCAAAAATGTTAGAACTTACCTCTTTAAATAATCTTATAAAGCCATTTCTTAATTTTTGTTACCTTTTCGAATCTATTAACTTGCATATCATAGTAAATGAACCCTTAGCTCCATCATACCACACACCTTCTACTCCTGTCCTCCCACTTTTTCTCACCCAGGCTGGAGTACAGTGAATATTTAGTGCTTTTAAATATTATTCATTACCAAGCCAAGTAGCGTACTATTTTTTCCTTGTACAGCCTTTTTTTCCCCTAAATAATTGTGTTATTTTTTCATTTGCTTCATTTTCATCTTATCGATTGATAATTCTTCTGTTCCATTTCAGTCTAATTTCCACATGGCCAAACCAATCTAAAAACCTGTTAACTCAGGTCTTTTTTTTTTTTTTTTTTCCCAGAATACCTTTTCCTGGAACCACCTTCTTCTTTTCATTCGAGACCAAATGCTTTCCATGCCTGTGTCAAAGTGGTTGTTCTCTAATCTGTCTTCACTACCATCATAATTTCCTTTTCCTTTTTTCCTTTCTTTATTATGTATCTCCTGTCTTTTAAATTCCATATTTTCCACTTTCATGATTTATTTTCTCATTTTGATGGCTACATCTTTCAGTAACTGAGAAAAGGTTGTGTGAGGGAATATTTTGAGATGCTGTAGTTTTGAAAATATCTTTATTCTGCTGTCTTCTCATTAATAATTTGACTGGATGTCAAGATTTAAGTTGGAAACTATTTTCCATGAGTATTTTGAAGGCATTATCTATTGTCTTCTAGCTTCCAGTGCTGCTTTGTATTAGAGACAGAAGATCAGGAATCAGGATAGCATTGGACTTCTTATTTCTATTTCCCAAAGCTTTTTGGATCTTCTCTTTATTCTTATCTTCTGATATTTTATAATGATATGCTTGATGCATTTACTTTTTCTTTTCTTCTTCCCTCTTGTACATTTCTTTCTTTTTTTAGGTGGGGGCAGGGGGGAAGGAGTCTCACTCTTCTCACCCAGGCTAGAGTGCAGTGGTGCAACCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACTGCGCCCAGCCCCTCTTGGACCTTTCTAGATATTCATCCTTCAATTCTGAGAAAGGTTCTATAATTCTTTAATTTAAAAAAAGTTTTTTTGTTTCATCTTTCTCACTTTTTTTTTTTTTTTTTTTTTTTAAGACACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCGCCCTTCGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCACCACCACCATGCCCGGCTAATTGTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCACCTGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCTATTCTGATTTCATAGATGCAGTGTCTTTTATGTCTCTGAGAGGTTTTGTCAAGTTTTCTTTTGTTTACTTTATTATCTGTTTCTTCAAGATTCCTCCTCTTTTCTTTTTGCCTTAAGCTTTTTCATATTGGAAGCTTCTCTCAAATGTCTGGTTATTCTGGTTGTCCACTTATATTACGTGGAACAATAAAAAAGTTGATTAGGACTCTGTGCTGTAAGTAAGTAAATTGTTGATAGTGAGAGCCCATTAATCACAGGATGATCAAGCAGCAAGCCTACTGTTTATTTGGGTTTCTCCAAATGGCTATAGCTGTCAGTCTTTTTTTTCTGGGGTTATTTGGCTTCTCTAGAAAAGAATTTTCTAGTCTCTTGTTTGGAGAATACAAGCTTGACTATTGGTGTTCCAGAAAATGGGTGGGAGGAGACGACTTTGTTTTCTGTTAGGTTGAGCCATGTGAAATTACTAGGTTTTGTTTTGTTTTCTGTTTTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCCTTAGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGACCAGTCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCACACCTGGGCTGAAATTACTGTTTTTATAGGTCAAAAACAGTTGAGGGATAGGCATGGTGGCTCCCACCTATAATCCCAGCACTTTCAGAGGCCAAGGCAGGAAGATTGCTTGA	G	A32114645G	SPAST	NM_014946.4(SPAST):c.690_1099-4223del	coding	Pathogenic
2	32114700	T	TC	A32114702C	SPAST	NM_014946.4(SPAST):c.746dup:p.Thr251fs	coding	Pathogenic
2	32114711	T	TA	T32114713A	SPAST	NM_014946.4(SPAST):c.757dup:p.Met253fs	coding	Pathogenic
2	32114730	GGCC	G	G32114731T	SPAST	NM_014946.4(SPAST):c.776_778del:p.Gly259_Leu260delinsVal	coding	Pathogenic
2	32114736	TC	T	C32114737A	SPAST	NM_014946.4(SPAST):c.782del:p.Leu260_Ser261insTer	coding	Pathogenic
2	32114738	AGGCC	A	G32114739A	SPAST	NM_014946.4(SPAST):c.784_787del:p.Gly262fs	coding	Pathogenic
2	32114744	CCA	C	C32114745T	SPAST	NM_014946.4(SPAST):c.790_791del:p.His263_His264insTer	coding	Pathogenic
2	32114797	G	GATCT	G32114802A	SPAST	NM_014946.4(SPAST):c.843_846dup:p.Gly283fs	coding	Pathogenic
2	32114956	A	AT	A32114957T	SPAST	NM_014946.4(SPAST):c.870+131_870+132insT	noncoding	Benign
2	32114957	A	AT	G32114976T	SPAST	NM_014946.4(SPAST):c.870+150dup	noncoding	Benign
2	32114957	A	ATT	G32114976T	SPAST	NM_014946.4(SPAST):c.870+149_870+150dup	noncoding	Benign
2	32115331	ACCCAGTCTGTTTTATATAATGCTGTATATTTCATTTTAAATTTATTTTTAAAATTATTTCAATCTTTGTAAATGTTTTATACCAGTAACATACCTAGAGTTTTGTCATGATTCTAACAAGGGTTAAAATTTGTTTTTATTTTGTAAAAACTAAATCTCTGGATAAAATCCTCTATAACTGACTTAATGCCAAATATAGTTCTCTAGTGAATACAGTTTTACCTTCAGGTAAATAAATATACAATTTATGGATTTTTATACCCTTTTTCCTATTTTTAAAGCTTGAATTCTGTGAACTTTAAGGTTAACTTATTTATGAAAAGTGTAAATGTTAGGTTGTATTTTCATATTAAAATTTTGTATCCTTTAAGGGTACTCCGAAAACAAATAGGACAAATAAACCTTCTACCCCTACAACTGCTACTCGTAAGAAAAAAGACTTGAAGAATTTTAGGAATGTGGACAGCAACCTTGCTAACCTTATAATGAATGAAATTGTGGACAAGTAAGTTTTGCCATCTAAATGTTTTATTTTATAGTTTTTATATTTTAATTTTACTTATAAAACATGTCAGGAGTGAAATAGATAATAAATACCTTGTCTGGTTTACATACTTAATTTTTATGATAGTTTTCAATTATAAATGTAGAAAACCATTGCTTTACTGATTTAACTATAGTTTAACAGTTAACATTAAAAATAACTATATGTCATAGGGCTTAGGCTTCATCTTGTAATAACTGGGCCCTGTTTGTATCGTAGAACTAACTGAGGTCTTGTTTCTTAGTGGAACAGCTGTTAAATTTGATGATATAGCTGGTCAAGACTTGGCAAAACAAGCATTGCAAGAAATTGTTATTCTTCCTTCTCTGAGGCCTGAGGTAAGAACTTTATATTATCATTTTTCTATAATACCATCTGTTACTGAATCCATAGTAGTAGTAGTAGTAAAGAAATATTTGAGCTATACTAAAATAATTAATTCATATAAGGTAACAATAGATTTAATGTTTTAAAAAAGATAAAACATTAACAATTGATGTTGAGAAGTTATTATAGAATAGGAAAATGGATATGAGTTCCTAATTTCCAATCCTTTTATATTTTTAGGAAAAGTGGGTAGTATGATATAATTTTGTTTTGTTTTGGAGACGGAGTCTCACTCATTGTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCGTCCCAGAATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACTATGCCCAGCTAATTTTTGTAATTTTAGTAGAGATGGGGTTTTGCTATATTGGCCAGGCTGGTCTTTCATACCTGATGTCAAGTTATCCACCCATTTCGGCCTCCCAGAGTGTTAGGATTACAAGTGTGAGTCACTACATCTGGCCAAATTTTGATATCAAGGTGAGAGAGATTTAAAATTAAGATAAGGTACAAAAATTAGCCTAGTGTGGGGGCGCACGCTTGTAGTCCCAACTACTGGGGAGGCTGTGGCAGGAGAATTGCTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTCCATCCTGGGTGACAGAGCGAGATGTCATCTCAAAAACAAAACAGGCCGGGTACGGTAGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCTGTCTTTACTAAAATTACAAAAATTAGCTGGGCTTGGTGGTGTGTAACCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAAAATTTAAAAAGATAAATACATAAAAATAAATAAATAATATTAAGAGAAGGAAATCAGGCAGGTAGTGGCCCCTGACACAATGAGTTTTCCCAGAATTGGATTGCTTGGAAATGCCGCTCAAAGAGTGTGGTAAACTCCATCGAAGGCTAAATACCAACGTGACAGTGATAATAAACAAGTACTTTATGGGAAAGTTTTTTTTTTAATTATTTTTAAAAAGAGAGAAATTGTACTGGAGAAAAGAGGAATTCAGGTAGAATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATTTTGCTCCTGTTACCCAGGCTGGAGTGCAGTGGCTTGATGTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGTGATTCTCATGCCTCATCCTCCTGAGTAGCTGGGTCTATAGGCATGCACCCCAACACCTGGCTAATTTTTGTGTTTTTAGTAGAGATAGGGTTTTACCATTTTGGCCAGGCTGGTCTCAAACTCCTGGCTTCAGATGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCAGAGGCCACTGTGCCTGGCATGAAGAACAATTTTTAAAAGAATGACTTTTAAGGATATTAAGTCATCAAAGTAGATAGAGCCATTAAATGATGGGTAGAAACCTAATCTTCCATCCCATATTTTATGACTTATTAAGGAAGATAGGCAATCTTGCAGTTGATAATAAATATTTGGCTTTCCATACTTAGCACCGTTTTGAATTTTTCCAGTTCACAGATGGTATATTTAGTGCTGTTCCAATAATATTGCAAAAAATAAATCTGAAGACTCACTTCTGGGTCACAGTTATTTCACTATTAACATTAAAATCTTACGGACCTACCTGCAACATGTAGTGGAAATAAGTTGTGTGGCACGTTGTGGTGGGTGCATTATTAAATAAATGTGCAAAGGTTTTATGGCTGTCTCAATTTTTCCATAGTCTTGAGTCATTCACATACTGCCTTTATGGTGTTTATCACTTGTAAGTGAGTACCAACTGTACTAGAACTTACTGAATATTTTTCAAGTCTATTTTACTTATTACTCATTCTAAGTACATAAAATCACTGGTCTGATATGCAAGTTAGGTTTTCGCTAATACCCAGTAAAATAATTAGATAATTATTAAAATAGAAAGCATTTGTCATTATGTGAACTGGATTTATGTCATGTACCACCTCAGGTCACACTTTGGGAAACGTAGCTTACGTATTGAGCTAACATTTTGCTGGAGTTATATAAGATTAGTAAATGCTATAGACTAAATATTGAAAAAAAAGCTTGCTTAAAGAGGATTTACATAATTGTAGACCTGAAAAGGATCTTAGCAGTCTTCTGATCGATTCATTGATAAAGAAACTAGTCCTAAGAGCTAAAATGACTTGCTCAAGATTTTAGTTAAGTGGTAGACCTAGGAAATACCTTTCTAAGATTAGAGCTGCCTGGTTAGTGCTATAGCTGCCACCTAATTCTTACATTTATTTATTAAGGGACATGCTTTTTACGGTAGAAAAATATATCTAAAATTGTGAAGGTAATACCAAGGAAATATTTAGGCTATGCAAGAAAAGTCATTCAGCTTTTGCTTTACCCAGGCCTATAGAGAACATATCTAAAATAATAAGTAACATGTGAATTTGAATTTAGGCATATTTTCATGGTAGTGACATAATGTGCAATTAAGAAGCTATAATAATGTAAAAATGCCAGTTGCAAGTTATTTCAAATAAAGTTGAATAACCTGACCTCAGGAGGGGCAGAAACCTTAGTAAACTTAGCAAACTGAGACCTAAGGAAGAGCAAGATCTGTGGTAGAGCCAGGTCTAAAGGTTTATATCCTGGTACAAACTTGTCTATACATCACCACACCTGCCAAATGGAACTTTTTTTCCTTGTAGTTCAGATTTCCAAGAAAGGGAATATTATTGTCCTAGCTCAGCGTTTCACAATAGACTCACAAAATGAATCTTGTTAAGCCTATGAATGGGTAAGACTTATCCCATAACACGCCTCTATTGTGTAAAAAAATCAGCTTTATTCCTAATTCCCTGTAGTAGGAAGCTTGCATAGACCACAATAGAGACATTGTTAGATTATATCAAGAAGGTGAGTGGCAGGCATTCTTGAGTATACTGGAATTTTTATTTCATTGTAGAAACACAGAATCATAATTAGTCATCTAAAACTGGTTTTAAGGAGATAATACTAAAGATACTCACTTGAGGTAGATTGTTCTCAGAATTACTTAAAATAAGTGCTTTAAATCTTGCTCATTCATGAAGCCATAGCCCTGGAAGGAGATATTGAAAAACTTCTCCATCTTCCTTCAATCCCATAGGACCATGTTTTTAATTGTAGTTTAACATTAAACATAATTTTTGAAAGTAGCCAATATTAATCTTTGACAAAAAACTCAAACTAAATAGCAGAAAATAGAACATGCCCTCTCCTCTCGCCCAAAAGTAAGACTACATTTTAAAGTATATCACAGTGATCTGTCTAAATATTTTTCTCAAATATTTTACTAAGAAAGCGTATATTCTTCTGTCCTTATTTCATAGATCTCTTCTGTATCCTGTGCAGCTTGTCTATCATTTCGAGCTTTTATATTTCTTATTTTGTTCTCTTGCTGCTTAAATGTGATTCTTTGAGATTTATAGAAGAATGTGATTGTTCTCCAGTTTTAAAAAGCTCTTCTCTATCTACTAAAATTTCCATGAATTTCTTTCTTTCTTTTTTTTTTTTTGATTGAGACAGTCTCGCTGTGTTCTCCAGCGTGGCCTTAGGCTTAAGTGATCCTCCTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGAAATTTCCATGAATTTCCAAATATGATGTTATCTTTCATATAAGCTTAAACATAAGCCTTTCTTCTTTCAAAAATGTTAGAACTTACCTCTTTAAATAATCTTATAAAGCCATTTCTTAATTTTTGTTACCTTTTCGAATCTATTAACTTGCATATCATAGTAAATGAACCCTTAGCTCCATCATACCACACACCTTCTACTCCTGTCCTCCCACTTTTTCTCAC	A	C32115334A	SPAST	NM_014946.4(SPAST):c.871-368_1098+4142del	noncoding	Pathogenic
2	32115700	AG	A	G32115703T	SPAST	NM_014946.4(SPAST):c.872del	noncoding	Pathogenic
2	32115732	C	CCT	T32115735C	SPAST	NM_014946.4(SPAST):c.902_903dup:p.Ser302fs	coding	Pathogenic/Likely_pathogenic
2	32115738	AC	A	C32115742T	SPAST	NM_014946.4(SPAST):c.911del:p.Pro304fs	coding	Pathogenic
2	32115754	C	CT	C32115756T	SPAST	NM_014946.4(SPAST):c.924dup:p.Arg309fs	coding	Pathogenic/Likely_pathogenic
2	32115761	GA	G	A32115767G	SPAST	NM_014946.4(SPAST):c.936del:p.Asp313fs	coding	Pathogenic
2	32115761	G	GA	G32115768A	SPAST	NM_014946.4(SPAST):c.936dup:p.Asp313fs	coding	Pathogenic
2	32116124	C	CAG	C32116127A	SPAST	NM_014946.4(SPAST):c.1011_1012dup:p.Ala338fs	coding	Pathogenic
2	32116163	CA	C	A32116167C	SPAST	NM_014946.4(SPAST):c.1053del:p.Lys351fs	coding	Pathogenic
2	32116180	GA	G	A32116183T	SPAST	NM_014946.4(SPAST):c.1069del:p.Ile357fs	coding	Pathogenic
2	32116183	AT	A	T32116185G	SPAST	NM_014946.4(SPAST):c.1071del:p.Ile357fs	coding	Pathogenic
2	32126966	GC	G	C32126967T	SPAST	NM_014946.4(SPAST):c.1118del:p.Ala373fs	coding	Pathogenic
2	32126987	CTCTTTGGTCCACCTGGGAATGG	C	T32126988G	SPAST	NM_014946.4(SPAST):c.1139_1160del:p.Leu380fs	coding	Pathogenic
2	32128440	CTTCTT	C	T32128442A	SPAST	NM_014946.4(SPAST):c.1208_1212del:p.Thr402_Phe403insTer	coding	Pathogenic
2	32128447	AATAT	A	T32128449A	SPAST	NM_014946.4(SPAST):c.1215_1218del:p.Asn405fs	coding	Pathogenic
2	32133665	A	AAAACGAACATTCACATAGTTCTTACCAGTTTACAGTGTTTTTTCCACACCGTCTTCAAAATGTAAAGTTTGGTCTTCAATACATCAGTATGCTGCTAGATTTAAATACTAGGGAAAAAAAAATCAGAGAAGTTAATAATATTAACTGTCACCTCCACTAGAAGATGGTCTCCATGTGGACAGTAATATTTCTCTTGTATTATCTGTGCTAAGTAAAATCTTCTGTAAGTTTCTTTAAATATTTTAATAAATCATAGTACTTAAAATGTTCTCAATATTCTAAAGTAGTTAAAAGTAACTATAAAATAGTACCTGTTTTTCTGATCACATTTTACTTCCTATGTGAAATTTTACAAGTCGTTACTCTATTTATTTATTGATTTATTTTTTAAGACAGGGTCTGTTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGTGATCCTCCCACCTTAGCATCCCAAGTAGCTGGGACTATAGGCACATGCCACCATGCCCAGCTAATTTTAAAAAATTCTGGGGGGCCGAATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCGGGGTGTGGTGGCAGGCGCCTGTAATCCCACTTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGACTCCATCTCAAAAAAAAAAAATTTTTTTTTGTAGTGACAAGGTGTCACTGTGTTGCCAGGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATCTGGTGACATTTCTTTTGTTTTTAAGTTAAATCTTCAGTAAAAAGAATAAATGCCACCTAGAGGACAGAAAAATTTTTACAGTAGATTATCACAGACCTCATGACTCATTACTTTGGTGTATAAAATGGCCTTTGTATGGTGTCAGCACCTGGGAATGTCTCAAGGGGTGTTCATTGACCTTCTGGACTATCTGGAAATATTTTGATATTTATTGGCTGGGCGCGGTGGCTCATGCCTGTAATTCCAGCACCTCGGGAGGCCAAGTTAGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACTAAGTTAGTTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATAGGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAGGCTTAAAGACTATCTAATGAATTTACCAATATGGTAAAACCCCATCTTTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACCTGGGATGTTGAGGGATGAGAATCACTTGAACCCAGGAGGCAAAAGTCACAGTGAGCCGAGATTGCACCACTGCACTCCAGACTGGGCTATAGAGCAAAACTCTGTCTCAAAAAAAAAAAGGAAAAAAAAAAAAGAAATTTTGATATTTATGTGAGAATGACTTTTCACGGTGTTCTTAATAGCGCAAGTTTTGTTTAGGAGAGCACATTCCAACTTACTTGCTTCTATAAATATACCGTGTAATCTAGGGCTTAAAGAATATGTACAATGTCTTTTTCTCTCCCCTAGTCTTCCCCTTTTCTCACTAGTTATATCCTTGACTGAAGAGCTATTTCATTCTCAAGTCTTAGGAATGCAGGGTGAAGCAAAACAGATGAATTTTTAAAGCACTTAACCAGGCTGTATGAAATCACAGTCTGTTGTCTAAAATTGTAAGGGACGGTTAGTAGTACTCTCCCCTTTCTCAAACCAAATCTTTGGTTGTTTTAAGGAAGGGAAATTAAATTCCTGTGTGCTAGATTTTCAACATAAAATTTAAAAAACTGGAATAATGTTGCATTTTATGTGTATAACAGTATAATGCTTTGTTTTAGGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGGTAAGAACATATTTTCCAACTAAGTTATTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATACGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAAGCTTAAAGACTATCTAATGAATTTAGTAGGACCCACTATATTAATAAGTAGTAAACTAGATTAATCTCAGATGACTCACATAGCTTGGTCTTTAATTAAAGTCTTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTAAGTGTTGATTATGATATTTTTAATGTGGCAGCATTTTAGTATATTTTCCTATTAAATGGCCAAGGTTAAAAATACAAATATCTTTATATTTGTTATTACTTTTCTAAATGAATTGAAAAAAGATTTTTTGCTTGTAGGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGTAGGGAGATTTATATGGAAATACATGCATTTATTACAGACAATATTTACTCATGTGTCCATCTTACATATTATTTCCTTACTCTCAGTTTTAAGACTAAATTCACTATTTTCTTCCAGTACTATCTCTAGCCTCTTGTTACCAACTACATAAGGATTTTGAGGTCAACAGCTTGATATCAGGAGAATTAGTCTAGTAAAGGTTTAGTTACGGTTTTAGGCAAATTGGTCAGTTCTTCTGGGTTGCATTAAATTATCTTTAAACTTGAAAATTGATTCTTACCGTCTTTTATTGGGCTTCATGAGAAAATAATCAAATCAGGGTTCATGGAAAATGTGTTTTCTGTTCTTGTGTGTTTGAGCAGTTTATTCCCTTCATACTGGAAGGACGGTTTGGGTCAGCATAAAATTCTTGGGCATCCTTTCCCAAGGAATTTACAATATTGCTCCATTGTTTCTAGATTGGCTGTAGTAGTGTAAAAGTCTGAATCCAAATTGATTTTTTCAAATTTGTAAAATAACTT	G32137712A	SPAST	NM_014946.4(SPAST):c.1246-2897_1493+523dup	noncoding	Pathogenic
2	32133666	A	AAACGAACATTCACATAGTTCTTACCAGTTTACAGTGTTTTTTCCACACCGTCTTCAAAATGTAAAGTTTGGTCTTCAATACATCAGTATGCTGCTAGATTTAAATACTAGGGAAAAAAAAATCAGAGAAGTTAATAATATTAACTGTCACCTCCACTAGAAGATGGTCTCCATGTGGACAGTAATATTTCTCTTGTATTATCTGTGCTAAGTAAAATCTTCTGTAAGTTTCTTTAAATATTTTAATAAATCATAGTACTTAAAATGTTCTCAATATTCTAAAGTAGTTAAAAGTAACTATAAAATAGTACCTGTTTTTCTGATCACATTTTACTTCCTATGTGAAATTTTACAAGTCGTTACTCTATTTATTTATTGATTTATTTTTTAAGACAGGGTCTGTTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGTGATCCTCCCACCTTAGCATCCCAAGTAGCTGGGACTATAGGCACATGCCACCATGCCCAGCTAATTTTAAAAAATTCTGGGGGGCCGAATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCGGGGTGTGGTGGCAGGCGCCTGTAATCCCACTTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGACTCCATCTCAAAAAAAAAAAATTTTTTTTTGTAGTGACAAGGTGTCACTGTGTTGCCAGGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATCTGGTGACATTTCTTTTGTTTTTAAGTTAAATCTTCAGTAAAAAGAATAAATGCCACCTAGAGGACAGAAAAATTTTTACAGTAGATTATCACAGACCTCATGACTCATTACTTTGGTGTATAAAATGGCCTTTGTATGGTGTCAGCACCTGGGAATGTCTCAAGGGGTGTTCATTGACCTTCTGGACTATCTGGAAATATTTTGATATTTATTGGCTGGGCGCGGTGGCTCATGCCTGTAATTCCAGCACCTCGGGAGGCCAAGTTAGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACTAAGTTAGTTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATAGGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAGGCTTAAAGACTATCTAATGAATTTACCAATATGGTAAAACCCCATCTTTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACCTGGGATGTTGAGGGATGAGAATCACTTGAACCCAGGAGGCAAAAGTCACAGTGAGCCGAGATTGCACCACTGCACTCCAGACTGGGCTATAGAGCAAAACTCTGTCTCAAAAAAAAAAAGGAAAAAAAAAAAAGAAATTTTGATATTTATGTGAGAATGACTTTTCACGGTGTTCTTAATAGCGCAAGTTTTGTTTAGGAGAGCACATTCCAACTTACTTGCTTCTATAAATATACCGTGTAATCTAGGGCTTAAAGAATATGTACAATGTCTTTTTCTCTCCCCTAGTCTTCCCCTTTTCTCACTAGTTATATCCTTGACTGAAGAGCTATTTCATTCTCAAGTCTTAGGAATGCAGGGTGAAGCAAAACAGATGAATTTTTAAAGCACTTAACCAGGCTGTATGAAATCACAGTCTGTTGTCTAAAATTGTAAGGGACGGTTAGTAGTACTCTCCCCTTTCTCAAACCAAATCTTTGGTTGTTTTAAGGAAGGGAAATTAAATTCCTGTGTGCTAGATTTTCAACATAAAATTTAAAAAACTGGAATAATGTTGCATTTTATGTGTATAACAGTATAATGCTTTGTTTTAGGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGGTAAGAACATATTTTCCAACTAAGTTATTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATACGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAAGCTTAAAGACTATCTAATGAATTTAGTAGGACCCACTATATTAATAAGTAGTAAACTAGATTAATCTCAGATGACTCACATAGCTTGGTCTTTAATTAAAGTCTTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTAAGTGTTGATTATGATATTTTTAATGTGGCAGCATTTTAGTATATTTTCCTATTAAATGGCCAAGGTTAAAAATACAAATATCTTTATATTTGTTATTACTTTTCTAAATGAATTGAAAAAAGATTTTTTGCTTGTAGGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGTAGGGAGATTTATATGGAAATACATGCATTTATTACAGACAATATTTACTCATGTGTCCATCTTACATATTATTTCCTTACTCTCAGTTTTAAGACTAAATTCACTATTTTCTTCCAGTACTATCTCTAGCCTCTTGTTACCAACTACATAAGGATTTTGAGGTCAACAGCTTGATATCAGGAGAATTAGTCTAGTAAAGGTTTAGTTACGGTTTTAGGCAAATTGGTCAGTTCTTCTGGGTTGCATTAAATTATCTTTAAACTTGAAAATTGATTCTTACCGTCTTTTATTGGGCTTCATGAGAAAATAATCAAATCAGGGTTCATGGAAAATGTGTTTTCTGTTCTTGTGTGTTTGAGCAGTTTATTCCCTTCATACTGGAAGGACGGTTTGGGTCAGCATAAAATTCTTGGGCATCCTTTCCCAAGGAATTTACAATATTGCTCCATTGTTTCTAGATTGGCTGTAGTAGTGTAAAAGTCTGAATCCAAATTGATTTTTTCAAATTTGTAAAATAACTT	G32137712A	SPAST	NM_014946.4(SPAST):c.1246-2896_1493+523dup	noncoding	Pathogenic
2	32136413	T	TC	A32136414C	SPAST	NM_014946.4(SPAST):c.1246-150_1246-149insC	noncoding	Benign
2	32136577	GA	G	A32136580T	SPAST	NM_014946.4(SPAST):c.1263del:p.Lys421fs	coding	Pathogenic
2	32136838	TG	T	G32136840T	SPAST	NM_014946.4(SPAST):c.1322-37del	noncoding	Benign
2	32136884	TGATAGCCTTTTGTGTGAAAG	T	G32136885A	SPAST	NM_014946.4(SPAST):c.1330_1349del:p.Asp444fs	coding	Pathogenic
2	32136904	GAA	G	A32136905G	SPAST	NM_014946.4(SPAST):c.1350_1351del:p.Glu452fs	coding	Pathogenic
2	32136929	TA	T	A32136930G	SPAST	NM_014946.4(SPAST):c.1375del:p.Arg459fs	coding	Pathogenic
2	32136936	CT	C	T32136937A	SPAST	NM_014946.4(SPAST):c.1382del:p.Leu461fs	coding	Pathogenic
2	32136966	GGT	G	G32136969A	SPAST	NM_014946.4(SPAST):c.1413+1_1413+2del	coding	Pathogenic/Likely_pathogenic
2	32137010	G	GTATA	T32137016A	SPAST	NM_014946.4(SPAST):c.1413+43TA[4]	noncoding	Benign
2	32137158	G	GATTA	G32137159A	SPAST	NM_014946.4(SPAST):c.1463_1464insATTA:p.Pro489fs	coding	Pathogenic
2	32141902	AG	A	G32141904C	SPAST	NC_000002.11:g.32366972del	noncoding	Pathogenic
2	32141905	CG	C	G32141906T	SPAST	NM_014946.4(SPAST):c.1496del:p.Arg499fs	coding	Pathogenic
2	32141913	CA	C	A32141916C	SPAST	NM_014946.4(SPAST):c.1506del:p.Lys502fs	coding	Pathogenic
2	32143337	CAA	C	A32143338G	SPAST	NM_014946.4(SPAST):c.1539_1540del:p.Arg514fs	coding	Pathogenic
2	32143358	A	ATT	C32143360T	SPAST	NM_014946.4(SPAST):c.1560_1561insTT:p.Leu521fs	coding	Pathogenic
2	32143358	ATCTG	A	C32143360T	SPAST	NM_014946.4(SPAST):c.1561_1564del:p.Leu521fs	coding	Pathogenic
2	32143360	C	CT	G32143362T	SPAST	NM_014946.4(SPAST):c.1562dup:p.Leu522fs	coding	Pathogenic
2	32144921	T	TCCTTCCCTTCCTCAGAATGACTG	A32144945C	SPAST	NM_014946.4(SPAST):c.1617-15_1624dup	noncoding	Pathogenic
2	32147220	CT	C	T32147221A	SPAST	NM_014946.4(SPAST):c.1691del:p.Leu564fs	coding	Pathogenic
2	32147229	G	GA	C32147232A	SPAST	NM_014946.4(SPAST):c.1701dup:p.Gln568fs	coding	Pathogenic
2	32147241	AAT	A	A32147244G	SPAST	NM_014946.4(SPAST):c.1714_1715del:p.Met572fs	coding	Pathogenic
2	32154411	TG	T	G32154412A	SPAST	NM_014946.4(SPAST):c.1767del:p.Lys591_Ile592insTer	coding	Pathogenic
2	32154412	GA	G	A32154419T	SPAST	NM_014946.4(SPAST):c.1774del:p.Lys591_Ile592insTer	coding	Pathogenic
2	32154412	G	GA	T32154420A	SPAST	NM_014946.4(SPAST):c.1774dup:p.Ile592fs	coding	Pathogenic
2	32154425	CG	C	G32154426C	SPAST	NM_014946.4(SPAST):c.1781del:p.Arg594fs	coding	Pathogenic
2	32154484	TA	T	A32154485C	SPAST	NM_014946.4(SPAST):c.1840del:p.Thr614fs	coding	Pathogenic
2	32224801	AATTT	A	A32224802T	NLRC4	NM_001199138.2(NLRC4):c.2783-40_2783-37del	noncoding	Benign
2	32224802	ATTTT	A	T32224807A	NLRC4	NM_001199138.2(NLRC4):c.2783-41_2783-38del	noncoding	Benign
2	32224802	ATTTTT	A	T32224806A	NLRC4	NM_001199138.2(NLRC4):c.2783-42_2783-38del	noncoding	Benign
2	32224810	T	TAAAA	G32224820A	NLRC4	NM_001199138.2(NLRC4):c.2783-54_2783-51dup	noncoding	Benign
2	32224810	T	TAAA	G32224820A	NLRC4	NM_001199138.2(NLRC4):c.2783-54_2783-52dup	noncoding	Benign
2	32235710	G	GT	G32235720T	NLRC4	NM_001199138.2(NLRC4):c.2615-151dup	noncoding	Benign
2	32235743	ACATTATG	A	T32235746G	NLRC4	NM_001199138.2(NLRC4):c.2615-182_2615-176del	noncoding	Benign
2	32236345	G	GA	G32236353A	NLRC4	NM_001199138.2(NLRC4):c.2522-13dup	noncoding	Benign
2	32236424	T	TC	T32236425C	NLRC4	NM_001199138.2(NLRC4):c.2522-86_2522-85insG	noncoding	Benign
2	32256724	AT	A	T32256727G	NLRC4	NM_001199138.2(NLRC4):c.1+50del	noncoding	Benign
2	33347500	G	GA	C33347502A	LTBP1	NM_206943.4(LTBP1):c.3991dup:p.Thr1331fs	coding	Pathogenic
2	33397139	TA	T	A33397142T	LTBP1	NM_206943.4(LTBP1):c.4844del:p.Asn1615fs	coding	Pathogenic
2	36850952	A	AT	G36850965T	STRN	NM_003162.4(STRN):c.2086+36dup	noncoding	Benign
2	36850952	A	ATT	G36850965T	STRN	NM_003162.4(STRN):c.2086+36_2086+37dup	noncoding	Benign
2	36855099	TAA	T	A36855100G	STRN	NM_003162.4(STRN):c.1978+111_1978+112del	noncoding	Benign
2	36887042	GACACACACACACAC	G	A36887073G	STRN	NM_003162.4(STRN):c.932-260GT[15]	noncoding	Benign
2	36887042	GACACACACACAC	G	A36887075G	STRN	NM_003162.4(STRN):c.932-260GT[16]	noncoding	Benign
2	36902475	A	ATAAT	A36902479T	STRN	NM_003162.4(STRN):c.659+108_659+109insTTAA	noncoding	Benign
2	37146839	A	AT	G37146840T	EIF2AK2	NM_001135651.3(EIF2AK2):c.240+13_240+14insA	noncoding	Benign
2	37231669	AG	C	A37231669C	NDUFAF7	NM_144736.5(NDUFAF7):c.-37_-36delinsC	noncoding	Benign
2	37237734	G	GT	C37237745T	NDUFAF7	NM_144736.5(NDUFAF7):c.298-13dup	noncoding	Benign
2	37238014	ATTAC	A	T37238020G	NDUFAF7	NM_144736.5(NDUFAF7):c.408+153_408+156del	noncoding	Benign
2	38070963	G	GA	T38070970A	CYP1B1	NM_000104.4(CYP1B1):c.1390dup:p.Ser464fs	coding	Pathogenic
2	38071450	G	GA	T38071458A	CYP1B1	NM_000104.4(CYP1B1):c.1044-147dup	noncoding	Benign
2	38074417	G	GAT	G38074421T	CYP1B1	NM_000104.4(CYP1B1):c.970_971dup:p.Thr325fs	coding	Pathogenic
2	38074945	GGCTGCGCGCC	G	G38074951A	CYP1B1	NM_000104.4(CYP1B1):c.434_443del:p.Arg145fs	coding	Pathogenic
2	38075214	GT	G	T38075215G	CYP1B1	NM_000104.4(CYP1B1):c.174del:p.Pro58_Leu59insTer	coding	Pathogenic
2	38676013	GC	G	C38676015A	GALM	NM_138801.3(GALM):c.294del:p.Ile99fs	coding	Pathogenic
2	38681129	CA	C	A38681143T	GALM	NM_138801.3(GALM):c.346-137del	noncoding	Benign
2	38681129	C	CA	T38681144A	GALM	NM_138801.3(GALM):c.346-137dup	noncoding	Benign
2	38733476	T	TC	T38733481C	GALM	NM_138801.3(GALM):c.952-8dup	noncoding	Benign
2	38982105	AC	A	C38982108A	SOS1	NM_005633.4(SOS1):c.*3718del	noncoding	Benign
2	38984487	A	AACTT	A38984493C	SOS1	NM_005633.4(SOS1):c.*1333_*1336dup	noncoding	Benign/Likely_benign
2	39006537	G	GA	T39006546A	SOS1	NM_005633.4(SOS1):c.2674-9dup	noncoding	Benign/Likely_benign
2	39010895	A	ACTT	T39010899C	SOS1	NM_005633.4(SOS1):c.2391-195_2391-193dup	noncoding	Benign
2	39010896	C	CTTCT	T39010899C	SOS1	NM_005633.4(SOS1):c.2391-194_2391-193insAAAG	noncoding	Benign
2	39024234	T	TCAC	A39024238C	SOS1	NM_005633.4(SOS1):c.1075-100_1075-98dup	noncoding	Benign
2	39035314	G	GA	G39035323A	SOS1	NM_005633.4(SOS1):c.976-5dup	noncoding	Benign/Likely_benign
2	39051338	TAAAC	T	C39051342T	SOS1	NM_005633.4(SOS1):c.721-55_721-52del	noncoding	Benign
2	42048568	CCCCGG	C	C42048574G	PKDCC	NM_138370.3(PKDCC):c.375_379del:p.Gly127fs	coding	Pathogenic
2	42048690	CG	C	G42048691C	PKDCC	NM_138370.3(PKDCC):c.492del:p.Leu165fs	coding	Pathogenic
2	42054211	T	TA	C42054213A	PKDCC	NM_138370.3(PKDCC):c.939dup:p.Leu314fs	coding	Pathogenic
2	42057588	AC	A	C42057590T	PKDCC	NM_138370.3(PKDCC):c.1397-13del	noncoding	Benign
2	42792493	CG	C	G42792495T	HAAO	NM_012205.3(HAAO):c.43del:p.Arg15fs	coding	Pathogenic
2	43776786	ACT	A	C43776791G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.18_19del:p.Trp7fs	coding	Pathogenic
2	43804898	TA	T	A43804911G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.900+172del	noncoding	Benign
2	43804898	T	TA	G43804912A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.900+172dup	noncoding	Benign
2	43822476	AG	A	G43822478C	ABCG5	NM_022436.3(ABCG5):c.1463+320del	noncoding	Benign
2	43822477	G	GCC	G43822478C	ABCG5	NM_022436.3(ABCG5):c.1463+319_1463+320insGG	noncoding	Benign
2	43822478	GC	G	C43822487A	ABCG5	NM_022436.3(ABCG5):c.1463+318del	noncoding	Benign
2	43822478	G	GC	A43822488C	ABCG5	NM_022436.3(ABCG5):c.1463+318dup	noncoding	Benign
2	43822479	C	CG	C43822480G	ABCG5	NM_022436.3(ABCG5):c.1463+317_1463+318insC	noncoding	Benign
2	43824098	AC	A	C43824100A	ABCG5	NM_022436.3(ABCG5):c.1138del:p.Leu379_Val380insTer	coding	Pathogenic
2	43828041	GC	G	C43828047A	ABCG5	NM_022436.3(ABCG5):c.575del:p.Gly192fs	coding	Pathogenic/Likely_pathogenic
2	43838543	CT	C	T43838544G	ABCG5	NM_022436.3(ABCG5):c.136del:p.Ser46fs	coding	Pathogenic
2	43852433	CG	C	G43852439T	ABCG8	NM_022437.3(ABCG8):c.647del:p.Gly216fs	coding	Pathogenic
2	43852581	CCT	C	C43852586G	ABCG8	NM_022437.3(ABCG8):c.695-17CT[2]	noncoding	Benign
2	43874075	CA	C	A43874076T	ABCG8	NM_022437.3(ABCG8):c.1411+90del	noncoding	Benign
2	43874275	A	AT	A43874279T	ABCG8	NM_022437.3(ABCG8):c.1412-129dup	noncoding	Benign
2	43874398	A	AT	C43874399T	ABCG8	NM_022437.3(ABCG8):c.1412-9_1412-8insT	noncoding	Benign/Likely_benign
2	43874510	G	GC	A43874517C	ABCG8	NM_022437.3(ABCG8):c.1488+33dup	noncoding	Benign
2	43874510	G	GCC	A43874517C	ABCG8	NM_022437.3(ABCG8):c.1488+32_1488+33dup	noncoding	Benign
2	43874510	G	GCCC	A43874517C	ABCG8	NM_022437.3(ABCG8):c.1488+31_1488+33dup	noncoding	Benign
2	43874726	T	TA	G43874735A	ABCG8	NM_022437.3(ABCG8):c.1488+251dup	noncoding	Benign
2	43877829	CG	T	C43877829T	ABCG8	NM_022437.3(ABCG8):c.1938_1939delinsT:p.Val647fs	coding	Pathogenic
2	43888901	CAT	C	A43888902G	LRPPRC	NM_133259.4(LRPPRC):c.4129-247_4129-246del	noncoding	Benign
2	43889811	A	AT	G43889816T	LRPPRC	NM_133259.4(LRPPRC):c.4050dup:p.Leu1351fs	coding	Pathogenic
2	43894548	AG	A	G43894549C	LRPPRC	NM_133259.4(LRPPRC):c.3981del:p.Tyr1328fs	coding	Pathogenic
2	43896533	TC	T	C43896534A	LRPPRC	NM_133259.4(LRPPRC):c.3900+100del	noncoding	Benign
2	43899270	G	GA	T43899277A	LRPPRC	NM_133259.4(LRPPRC):c.3773dup:p.Leu1259fs	coding	Pathogenic
2	43899285	AG	A	G43899287T	LRPPRC	NM_133259.4(LRPPRC):c.3758del:p.Pro1253fs	coding	Pathogenic
2	43899547	CTT	C	T43899549A	LRPPRC	NM_133259.4(LRPPRC):c.3626_3627del:p.Lys1209fs	coding	Pathogenic
2	43899577	TG	T	G43899578T	LRPPRC	NM_133259.4(LRPPRC):c.3597del:p.Asn1199fs	coding	Pathogenic
2	43905769	TG	T	G43905772T	LRPPRC	NM_133259.4(LRPPRC):c.3286del:p.His1096fs	coding	Pathogenic
2	43918271	CGG	C	G43918272A	LRPPRC	NM_133259.4(LRPPRC):c.3022_3023del:p.Pro1008fs	coding	Pathogenic
2	43934309	GA	G	A43934316T	LRPPRC	NM_133259.4(LRPPRC):c.2630-14del	noncoding	Benign
2	43934715	G	GA	C43934725A	LRPPRC	NM_133259.4(LRPPRC):c.2629+30dup	noncoding	Benign
2	43934887	C	CA	T43934895A	LRPPRC	NM_133259.4(LRPPRC):c.2505-16dup	noncoding	Benign
2	43943821	G	GA	G43943827A	LRPPRC	NM_133259.4(LRPPRC):c.2369dup:p.His791fs	coding	Pathogenic
2	43943865	CT	AC	C43943865A	LRPPRC	NM_133259.4(LRPPRC):c.2325_2326delinsGT:p.Glu776Ter	coding	Pathogenic
2	43945380	T	TG	C43945382G	LRPPRC	NM_133259.4(LRPPRC):c.2247dup:p.Lys750fs	coding	Pathogenic
2	43945948	CAATT	C	T43945955A	LRPPRC	NM_133259.4(LRPPRC):c.2210+161_2210+164del	noncoding	Benign
2	43947276	AAT	A	A43947279G	LRPPRC	NM_133259.4(LRPPRC):c.2058_2059del:p.Leu687fs	coding	Pathogenic
2	43948524	G	GA	C43948532A	LRPPRC	NM_133259.4(LRPPRC):c.1736-13dup	noncoding	Benign
2	43963643	GTA	G	A43963647G	LRPPRC	NM_133259.4(LRPPRC):c.1431_1432del:p.Thr478fs	coding	Pathogenic
2	43973614	AT	A	T43973621C	LRPPRC	NM_133259.4(LRPPRC):c.1361del:p.Asn454fs	coding	Pathogenic
2	43974209	CCTTT	C	C43974210G	LRPPRC	NM_133259.4(LRPPRC):c.1092_1095del:p.Glu366fs	coding	Pathogenic
2	43976725	A	AC	A43976726C	LRPPRC	NM_133259.4(LRPPRC):c.650+268_650+269insG	noncoding	Benign
2	43977194	GA	G	A43977197T	LRPPRC	NM_133259.4(LRPPRC):c.551del:p.Phe184fs	coding	Pathogenic
2	43982306	G	GAAAGATCTAGTCTCGGGTAGTGGCTTCTTTCCTGGCAACTATGATTATTTGAAAACAACGTCAAGAGAAGGCTCGAAGGCGCCGCGGGCTGGGGTCGGTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A43982321G	LRPPRC	NM_133259.4(LRPPRC):c.277_278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCGACCCCAGCCCGCGGCGCCTTCGAGCCTTCTCTTGACGTTGTTTTCAAATAATCATAGTTGCCAGGAAAGAAGCCACTACCCGAGACTAGATCTTT:p.Ser93delinsPhePhePhePhePhePhePheXaaXaaXaaXaaThrAspProSerProArgArgLeuArgAlaPheSerTer	coding	Pathogenic
2	44275875	T	TGCCTA	A44275882C	SLC3A1	NM_000341.4(SLC3A1):c.342_346dup:p.Asp116delinsAlaTer	coding	Pathogenic
2	44312620	G	GT	G44312624T	PREPL;SLC3A1	NM_000341.4(SLC3A1):c.1370dup:p.Leu457fs	coding	Pathogenic
2	44312774	C	CAGCTATAAATACAAG	T44312775A	SLC3A1	NM_000341.4(SLC3A1):c.1500+21_1500+22insAGCTATAAATACAAG	noncoding	Benign
2	44312782	C	CTAT	A44312783T	SLC3A1	NM_000341.4(SLC3A1):c.1500+29_1500+30insTAT	noncoding	Benign
2	44320279	CAG	C	A44320280G	SLC3A1	NM_000341.4(SLC3A1):c.1699_1700del:p.Arg567fs	coding	Pathogenic
2	44320329	CA	C	A44320331G	SLC3A1	NM_000341.4(SLC3A1):c.1750del:p.Arg584fs	coding	Pathogenic/Likely_pathogenic
2	44322717	A	AG	T44322723G	PREPL	NM_001171613.2(PREPL):c.1753+13dup	noncoding	Benign
2	44339214	TA	T	A44339217G	PREPL	NM_001171613.2(PREPL):c.634del:p.Tyr212fs	coding	Pathogenic
2	44342561	AAAT	A	A44342565G	PREPL	NM_001171613.2(PREPL):c.350-12_350-10del	noncoding	Benign
2	44342600	TA	T	A44342615G	PREPL	NM_001171613.2(PREPL):c.350-49del	noncoding	Benign
2	44342600	T	TA	G44342616A	PREPL	NM_001171613.2(PREPL):c.350-63dup	noncoding	Benign
2	44343931	CTTCAT	C	T44343932A	PREPL	NM_001171613.2(PREPL):c.158_162del:p.Tyr53fs	coding	Pathogenic
2	44343961	GA	G	A44343966T	PREPL	NM_001171613.2(PREPL):c.143-11del	noncoding	Benign
2	44344076	CAAT	C	A44344077G	PREPL	NM_001171613.2(PREPL):c.143-128_143-126del	noncoding	Benign
2	44346128	TTTTAAG	T	A44346132T	PREPL	NM_001171613.2(PREPL):c.75+134_75+139del	noncoding	Benign
2	44346369	CTTGT	C	G44346372A	PREPL	NM_001171613.2(PREPL):c.-31_-28del	coding	Pathogenic
2	44941807	TCTCTCC	T	C44941825T	SIX3	NM_005413.4(SIX3):c.-292CCTCTC[2]	noncoding	Benign
2	44942499	T	TGC	C44942512G	SIX3	NM_005413.4(SIX3):c.406_407dup:p.Val137fs	coding	Pathogenic
2	44942502	GCGCGCGCGCCGTGGT	G	G44942506C	SIX3	NM_005413.4(SIX3):c.402_416del:p.Arg135_Ala139del	coding	Pathogenic
2	46356133	AC	A	C46356143T	EPAS1	NM_001430.5(EPAS1):c.218-8del	noncoding	Benign
2	46356139	C	CG	C46356140G	EPAS1	NM_001430.5(EPAS1):c.218-12_218-11insG	noncoding	Benign
2	46356140	C	CT	C46356141T	EPAS1	NM_001430.5(EPAS1):c.218-11_218-10insT	noncoding	Benign
2	46616943	A	AG	C46616944G	CRIPT	NM_002643.4(PIGF):c.-22+26_-22+27insC	noncoding	Benign
2	46617080	C	CG	C46617082G	CRIPT	Single_allele	noncoding	Benign
2	46617285	GGT	G	T46617289C	CRIPT	NM_014171.6(CRIPT):c.7_8del:p.Cys3fs	coding	Pathogenic
2	46905695	TAAA	T	A46905713G	MCFD2	NM_139279.6(MCFD2):c.310-104_310-102del	noncoding	Benign
2	46905695	TA	T	A46905715G	MCFD2	NM_139279.6(MCFD2):c.310-102del	noncoding	Benign
2	46905695	T	TAAA	G46905716A	MCFD2	NM_139279.6(MCFD2):c.310-121_310-119dup	noncoding	Benign
2	46905695	T	TA	G46905716A	MCFD2	NM_139279.6(MCFD2):c.310-121dup	noncoding	Benign
2	46909499	CAA	C	A46909500G	MCFD2	NM_139279.6(MCFD2):c.-6-324_-6-323del	noncoding	Benign
2	46941616	C	CT	G46941618T	TTC7A	NM_020458.4(TTC7A):c.76dup:p.Trp26fs	coding	Pathogenic
2	46950367	CT	C	T46950370G	TTC7A	NM_020458.4(TTC7A):c.192del:p.Phe64fs	coding	Pathogenic
2	46974852	CT	C	T46974853C	TTC7A	NM_020458.4(TTC7A):c.518-120del	noncoding	Benign
2	46975018	GC	G	C46975020T	TTC7A	NM_020458.4(TTC7A):c.565del:p.Arg188_Leu189insTer	coding	Pathogenic
2	46978562	T	TAAAAAAAAAAAA	G46978576A	TTC7A	NM_020458.4(TTC7A):c.649-228_649-217dup	noncoding	Benign
2	46978562	T	TAAAAAAAAAA	G46978576A	TTC7A	NM_020458.4(TTC7A):c.649-226_649-217dup	noncoding	Benign
2	46993309	C	CT	A46993311T	TTC7A	NM_020458.4(TTC7A):c.765-140dup	noncoding	Benign
2	47006189	CA	C	A47006191G	TTC7A	NM_020458.4(TTC7A):c.1203+132del	noncoding	Benign
2	47006192	G	GACTTGACC	T47006193A	TTC7A	NM_020458.4(TTC7A):c.1203+133_1203+134insACTTGACC	noncoding	Benign
2	47011359	AGT	A	T47011365A	TTC7A	NM_020458.4(TTC7A):c.1322_1323del:p.Val441fs	coding	Pathogenic
2	47011397	C	CT	G47011399T	TTC7A	NM_020458.4(TTC7A):c.1355dup:p.Met453fs	coding	Pathogenic
2	47029365	GAGCA	G	A47029366C	TTC7A	NM_020458.4(TTC7A):c.1784_1787del:p.Glu595fs	coding	Pathogenic
2	47161627	A	AGGG	A47161632G	CALM2	NM_001743.6(CALM2):c.421+92_421+94dup	noncoding	Benign
2	47161874	GTA	G	T47161877G	CALM2	NM_001743.6(CALM2):c.286-18_286-17del	noncoding	Benign/Likely_benign
2	47369450	GCCCTCCCGCGAGTCCCGGGC	G	A47369461C	EPCAM	NM_002354.3(EPCAM):c.-45_-26del	noncoding	Benign
2	47369714	C	CG	T47369717G	EPCAM	NM_002354.3(EPCAM):c.76+135dup	noncoding	Benign
2	47376979	A	AT	A47376989T	EPCAM	NM_002354.3(EPCAM):c.492-26dup	noncoding	Benign
2	47378949	CCAGTATGAGAATAATGTTATCACTATTGATCTGGTTCAAAATTCTTCTCAAAAAACTCAGAATGATGTGGACATAGCTGATGTGGCTTATTATTTTGAAAAAGATGTGAGTATCATCTTCTTTATTCCTGTGTTCAGGAATGTAGTCTATCATGCCTCAATGAATTAAATATATTTCATCACCTTTTTATCCACTTACAGATCAACCAAATGGTTCGCTGCTGCCGTTAATTTTGTCCTCCCTGTCACTCACATGCATCTTGCTTGTTTGTATATTTATGCCTCTTATCAAATTGTTCTGCCTAAAATATCTCCCCTCTTTCTTATAATTCTTATTTATTATCTACTTGGTGGTTACTTAGTTTGTGCATATATGCTCCCCTATGATATTTAT	C	C47378950A	EPCAM	NM_002354.3(EPCAM):c.556-3_657+288del	noncoding	Pathogenic
2	47385163	CAGGTTATTTCCAGAAAGAAGAGAATGGCAAAGTATGAGAAGGCTGAGGTAAATGGATTACTTACCTAAATAGAAAGGCCCTGTTGAATCT	C	A47385164C	EPCAM	NM_002354.3(EPCAM):c.859-2_903+43del	noncoding	Pathogenic
2	47403171	AGGAGGTGAGGAGGTTTCGACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGC	A	T47403177C	MSH2	NM_000251.3(MSH2):c.-15_211+105del	noncoding	Pathogenic
2	47403186	TTCGACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGCGGAGGCACGGGGGCGGAACGTTGGTGCTTGTGCGGATTCCGCCGTCCCCAGGTTCTGCTTGGCTCCGGAGGGACGCCCCCCTCAGCCCTGAAACCCGTGCCTCTCCAGCCGCCCCGGATCTGAACTTGTGATCACGGAGTGTTTACGTCGTGCCAGGCATTTTAATGCATTGTTCTAGTTCATTTTCCAGCAGTCGCATTCCTCGCCTTGGCCCTACATGTAGCGCTCATTACAAACACGGCCAGAATCTCTTATTAACAAACAGCAGCCAGGAGTGAGATTTAAAATAGACTGGGGGTTTAGGAGACCCTTTTATGACACGTAATTCTGCTCCCACGACGCTCCCATTTATACCGCCGGTCCAGCTAAGGGTCTGGTAATGGAGCGCCGTTGAAGAGCAGTATGATGAAGTGGTCAGGACCAACGGACTCTGGAGCTGGGCTGCTTGGGATCAAGTCGCTGCCCCTCTGCTTATTAACGTGTGACCTTGGGCCAGTCATGGACGCTATCTGCTTCAGCTCAGCATTCAGTGCTCTCCGTCACCCGACCCCATCTATCCAGGATTATCTCTCCCTGGAAAGCTACAAACGTCTCACCCTATGTGGGCCAAATGTTCTGGATAGGCCTAGTTAACCTCTTCTCTCCCTGTTTTCTTTGCGCTTTCTTGCAGCTATGTAGTTATGCTAATGAAAAGAGCATCCTAGGGGGAGCAGAGTTGTGGATTCTAGTCCTGACTAGAGGACTAGTGCAAATGCGATACTCC	T	C47403188G	MSH2	NM_000251.3(MSH2):c.-4_211+864del	noncoding	Pathogenic
2	47403188	CGACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAG	C	A47403190T	MSH2	NM_000251.3(MSH2):c.-2_211+1del	noncoding	Pathogenic
2	47403188	CGACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGCGGAGGCACGGGGGCGGAACGTTGGTGCTTGTGCGGATTCCGCCGTCCCCAGGTTCTGCTTGGCTCCGGAGGGACGCCCCCCTCAGCCCTGAAACCCGTGCCTCTCCAGCCGCCCCGGATCTGAACTTGTGATCACGGAGTGTTTACGTCGTGCCAGGCATTTTAATGCATTGTTCTAGTTCATTTTCCAGCAGTCGCATTCCTCGCCTTGGCCCTACATGTAGCGCTCATTACAAACACGGCCAGAATCTCTTATTAACAAACAGCAGCCAGGAGTGAGATTTAAAATAGACTGGGGGTTTAGGAGACCCTTTTATGACACGTAATTCTGCTCCCACGACGCTCCCATTTATACCGCCGGTCCAGCTAAGGGTCTGGTAATGGAGCGCCGTTGAAGAGCAGTATGATGAAGTGGTCAGGACCAACGGACTCTGGAGCTGGGCTGCTTGGGATCAAGTCGCTGCCCCTCTGCTTATTAACGTGTGACCTTGGGCCAGTCATGGACGCTATCTGCTTCAGCTCAGCATTCAGTGCTCTCCGTCACCCGACCCCATCTATCCAGGATTATCTCTCCCTGGAAAGCTACAAACGTCTCACCCTATGTGGGCCAAATGTTCTGGATAGGCCTAGTTAACCTCTTCTCTCCCTGTTTTCTTTGCGCTTTCTTGCAGCTATGTAGTTATGCTAATGAAAAGAGCATCCTAGGGGGAGCAGAGTTGTGGATTCTAGTCCTGACTAGAGGACTAGTGCAAATGCGATACTCCTGATGAAAAATGTTTCATTCGTTAGATATAAATGTGTTAGGCAGGGTTATGGACACTAGATGAAAAAAGAAATACCTCTACTTTCATAGAGATCACTATTGGACAGCAAGGCAGAAATAATTACAATTCAAGTTGGAGGCTTATGGAGGTGAGCTTGTAAGAGGTTACAAGAGGCGCCAAGGCAGGATCGCCAAAGACGGAA	C	A47403192T	MSH2	NM_000251.3(MSH2):c.1_211+1068del	noncoding	Pathogenic
2	47403188	CGACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGCGGAGGCACGGGGGCGGAACGTTGGTGCTTGTGCGGATTCCGCCGTCCCCAGGTTCTGCTTGGCTCCGGAGGGACGCCCCCCTCAGCCCTGAAACCCGTGCCTCTCCAGCCGCCCCGGATCTGAACTTGTGATCACGGAGTGTTTACGTCGTGCCAGGCATTTTAATGCATTGTTCTAGTTCATTTTCCAGCAGTCGCATTCCTCGCCTTGGCCCTACATGTAGCGCTCATTACAAACACGGCCAGAATCTCTTATTAACAAACAGCAGCCAGGAGTGAGATTTAAAATAGACTGGGGGTTTAGGAGACCCTTTTATGACACGTAATTCTGCTCCCACGACGCTCCCATTTATACCGCCGGTCCAGCTAAGGGTCTGGTAATGGAGCGCCGTTGAAGAGCAGTATGATGAAGTGGTCAGGACCAACGGACTCTGGAGCTGGGCTGCTTGGGATCAAGTCGCTGCCCCTCTGCTTATTAACGTGTGACCTTGGGCCAGTCATGGACGCTATCTGCTTCAGCTCAGCATTCAGTGCTCTCCGTCACCCGACCCCATCTATCCAGGATTATCTCTCCCTGGAAAGCTACAAACGTCTCACCCTATGTGGGCCAAATGTTCTGGATAGGCCTAGTTAACCTCTTCTCTCCCTGTTTTCTTTGCGCTTTCTTGCAGCTATGTAGTTATGCTAATGAAAAGAGCATCCTAGGGGGAGCAGAGTTGTGGATTCTAGTCCTGACTAGAGGACTAGTGCAAATGCGATACTCCTGATGAAAAATGTTTCATTCGTTAGATATAAATGTGTTAGGCAGGGTTATGGACACTAGATGAAAAAAGAAATACCTCTACTTTCATAGAGATCACTATTGGACAGCAAGGCAGAAATAATTACAATTCAAGTTGGAGGCTTATGGAGGTGAGCTTGTAAGAGGTTACAAGAGGCGCCAAGGCAGGATCGCCAAAGACGGAAGACTTTGGAAGAGTCTCATACAACGGAAGAGGCGTTATATGAGACACCAAAGTCCACGTTGAGTCTTGGTGGACTAGAAGTTTGCTAGGGAGAGGGCTTGAAACGAGGTA	C	C47403191T	MSH2	NM_000251.3(MSH2):c.-1_211+1177del	noncoding	Pathogenic
2	47403189	GACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGCGGAGGCACGGGGGCGGAACGTTGGTGCTTGTGCGGATTCCGCCGTCCCCAGGTTCT	G	A47403190G	MSH2	NM_000251.3(MSH2):c.-2_211+156del	noncoding	Pathogenic
2	47403189	GACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGCGACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGCGGAGGCACGGGGGCGGAACGTTGGTGCTTGTGCGGATTCCGCCGTCCCCAGGTTCTGCTTGGCTCCGGAGGGACGCCCCCCTCAGCCCTGAAACCCGTGCCTCTCCAGCCGCCCCGGATCTGAACTTGTGATCACGGAGTGTTTACGTCGTGCCAGGCATTTTAATGCATTGTTCTAGTTCATTTTCCAGCAGTCGCATTCCTCGCCTTGGCCCTACATGTAGCGCTCATTACAAACACGGCCAGAATCTCTTATTAACAAACAGCAGCCAGGAGTGAGATTTAAAATAGACTGGGGGTTTAGGAGACCCTTTTATGACACGTAATTCTGCTCCCACGACGCTCCCATTTATACCGCCGGTCCAGCTAAGGGTCTGGTAATGGAGCGCCGTTGAAGAGCAGTATGATGAAGTGGTCAGGACCAACGGACTCTGGAGCTGGGCTGCTTGGGATCAAGTCGCTGCCCCTCTGCTTATTAACGTGTGACCTTGGGCCAGTCATGGACGCTATCTGCTTCAGCTCAGCATTCAGTGCTCTCCGTCACCCGACCCCATCTATCCAGGATTATCTCTCCCTGGAAAGCTACAAACGTCTCACCCTATGTGGGCCAAATGTTCTGGATAGGCCTAGTTAACCTCTTCTCTCCCTGTTTTCTTTGCGCTTTCTTGCAGCTATGTAGTTATGCTAATGAAAAGAGCATCCTAGGGGGAGCAGAGTTGTGGATTCTAGTCCTGACTAGAGGACTAGTGCAAATGCGATACTCCTGATGAAAAATGTTTCATTCGTTAGATATAAATGTGTTAGGCAGGGTTATGGACACTAGATGAAAAAAGAAATACCTCTACTTTCATAGAGATCACTATTGGACAGCAAGGCAGAAATAATTACAATTCAAGTTGGAGGCTTATGGAGGTGAGCTTGTAAGAGGTTACAAGAGGCGCCAAGGCAGGATCGCCAAAGACGGAAGACTTTGGAAGAGTCTCATACAACGGAAGAGGCGTTATATGAGACACCAAAGTCCACGTTGAGTCTTGGTGGACTAGAAGTTTGCTAGGGAGAGGGCTTGAAACGAGGTAGATTGGCGTTGCTGGTGTAGAAAAGGAAGGAGACTGGCCCAGGTGGGTGGGGTTAGATGACCAAAGGCTTTTAGTGTGGTGTTGAGCTGTTGAAATTTTATGCTGTAGCCAATGAAAAGTCTGAAATGTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTACTGTGTCGCCCAGGTTGGAGTTCAGTGGTGTAATCCTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCACCGGAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCTCCCGATGTGCTGGGATTACAGGTATTAGCCACTGCACCTGACCTACATAGATTTTACATAAGACTTTAAAACAGGGCGGGCGCAGTGACTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCTGTCTACACTAAAAATACAAAAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGTTAACACTGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGCGGTGGCAGGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGACTTTAAAAAAAATTATAAGAAAGGACAGACCAAGTGCAGTGGTTCGTTCCAGCACTTAGGGATGCCAAGGTGGGAGGATTGCTTGATGCTAGGAGTTGAAGACTAGCCTGTGTAACATAGCGAGACCCATCTCTACAAAAAAATTAAAAAGTTACCTTTAGAACTTACGATTTTTATGTGTAGACTCCATATAAGCAGAGGGTCTATGCTTATTCACTATTTATTACCTTCCATAGTCCCTGCACATATAATAGGTGCTTCATAAACAATTTAATGAATGAATAAATTACTGAGAAAACACTGGAAGTTTTTGGGTTAGCATTGTGTTAGGTGCTTGATATGGTCTGGCTGTGTTCCCACCCTTATCTCATCTTGAATTCCCATGTTTTGTGGGAGGTACCTGGTGGGACATAATTGAATCATGTGGGCAGGTTTTTCCTGTGCTGTTCTCCTGGTAGTGAATAAGCCTCACAAGATCTGATGGTTTTAAAAATGGGAGTTTCCCTGCACAGGCTCTCTCTCTTTGCCTGCCGCCATCCATGTAAGATGT	G	C47403191A	MSH2	NM_000251.3(MSH2):c.-1_212-2403del	noncoding	Pathogenic
2	47403196	CG	C	G47403198T	MSH2	NM_000251.3(MSH2):c.7del:p.Val3fs	coding	Pathogenic
2	47403208	AG	A	G47403210A	MSH2	NM_000251.3(MSH2):c.19del:p.Glu7fs	coding	Pathogenic
2	47403212	G	GGT	A47403213G	MSH2	NM_000251.3(MSH2):c.21_22insGT:p.Thr8fs	coding	Pathogenic
2	47403214	CGCTGCAGTTGGAGA	C	T47403217G	MSH2	NM_000251.3(MSH2):c.26_39del:p.Leu9fs	coding	Pathogenic
2	47403232	CG	C	G47403234C	MSH2	NM_000251.3(MSH2):c.43del:p.Ala15fs	coding	Pathogenic
2	47403236	CGAGGTCGGCTTCGT	C	A47403238C	MSH2	NM_000251.3(MSH2):c.47_60del:p.Glu16fs	coding	Pathogenic
2	47403241	TCGGCTTCGTGC	T	C47403242G	MSH2	NM_000251.3(MSH2):c.51_61del:p.Gly18fs	coding	Pathogenic
2	47403245	C	CG	T47403246G	MSH2	NM_000251.3(MSH2):c.54_55insG:p.Phe19fs	coding	Pathogenic
2	47403257	CTT	C	T47403259C	MSH2	NM_000251.3(MSH2):c.68_69del:p.Phe23fs	coding	Pathogenic
2	47403279	CCGACCACCACAGTG	C	A47403282C	MSH2	NM_000251.3(MSH2):c.91_104del:p.Thr31fs	coding	Pathogenic
2	47403283	C	CTGGT	C47403284T	MSH2	NM_000251.3(MSH2):c.92_93insTGGT:p.Thr32fs	coding	Pathogenic
2	47403290	AG	A	G47403291T	MSH2	NM_000251.3(MSH2):c.100del:p.Val34fs	coding	Pathogenic
2	47403292	T	TGC	C47403297G	MSH2	NM_000251.3(MSH2):c.104_105dup:p.Leu36fs	coding	Pathogenic
2	47403295	GC	G	C47403297T	MSH2	NM_000251.3(MSH2):c.106del:p.Leu36fs	coding	Pathogenic
2	47403305	CCGGGG	C	G47403308A	MSH2	NM_000251.3(MSH2):c.117_121del:p.Gly40fs	coding	Pathogenic
2	47403310	G	GC	G47403312C	MSH2	NM_000251.3(MSH2):c.120dup:p.Asp41fs	coding	Pathogenic
2	47403311	C	CGACTTCTATACGGCGCACG	C47403332A	MSH2	NM_000251.3(MSH2):c.122_140dup:p.Glu48fs	coding	Pathogenic
2	47403321	A	ACGGCG	A47403328G	MSH2	NM_000251.3(MSH2):c.132_136dup:p.His46fs	coding	Pathogenic
2	47403351	GCC	G	C47403353G	MSH2	NM_000251.3(MSH2):c.162_163del:p.Arg55fs	coding	Pathogenic
2	47403354	CGGGAGGTGTTCAAGACCCA	C	A47403358G	MSH2	NM_000251.3(MSH2):c.167_185del:p.Glu56fs	coding	Pathogenic
2	47403357	GA	G	A47403358G	MSH2	NM_000251.3(MSH2):c.167del:p.Glu56fs	coding	Pathogenic
2	47403359	GGT	G	G47403362T	MSH2	NM_000251.3(MSH2):c.171_172del:p.Phe58fs	coding	Pathogenic
2	47403363	TTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCCTTGTGGCGCGGCTCCTTTCCCGCCTCAGAGAGTGGGCGGTGAGCAGCCTCTCCAGTGCGGAGGCACGGGGGCGGAACGTTGGTGCTTGTGCGGATTCCGCCGTCCCCAGGTTCTGCTTGGCTCCGGAGGGACGCCCCCCTCAGCCCTGAAACCCGTGCCTCTCCAGCCGCCCCGGATCTGAACTTGTGATCACGGAGTGTTTACGTCGTGCCAGGCATTTTAATGCATTGTTCTAGTTCATTTTCCAGCAGTCGCATTCCTCGCCTTGGCCCTACATGTAGCGCTCATTACAAACACGGCCAGAATCTCTTATTAACAAACAGCAGCCAGGAGTGAGATTTAAAATAGACTGGGGGTTTAGGAGACCCTTTTATGACACGTAATTCTGCTCCCACGACGCTCCCATTTATACCGCCGGTCCAGCTAAGGGTCTGGTAATGGAGCGCCGTTGAAGAGCAGTATGATGAAGTGGTCAGGACCAACGGACTCTGGAGCTGGGCTGCTTGGGATCAAGTCGCTGCCCCTCTGCTTATTAACGTGTGACCTTGGGCCAGTCATGGACGCTATCTGCTTCAGCTCAGCATTCAGTGCTCTCCGTCACCCGACCCCATCTATCCAGGATTATCTCTCCCTGGAAAGCTACAAACGTCTCACCCTATGTGGGCCAAATGTTCTGGATAGGCCTAGTTAACCTCTTCTCTCCCTGTTTTCTTTGCGCTTTCTTGCAGCTATGTAGTTATGCTAATGAAAAGAGCATCCTAGGGGGAGCAGAGTTGTGGATTCTAGTCCTGACTAGAGGACTAGTGCAAATGCGATACTCCTGATGAAAAATGTTTCATTCGTTAGATATAAATGTGTTAGGCAGGGTTATGGACACTAGATGAAAAAAGAAATACCTCTACTTTCATAGAGATCACTATTGGACAGCAAGGCAGAAATAATTACAATTCAAGTTGGAGGCTTATGGAGGTGAGCTTGTAAGAGGTTACAAGAGGCGCCAAGGCAGGATCGCCAAAGACGGAAGACTTTGGAAGAGTCTCATACAACGGAAGAGGCGTTATATGAGACACCAAAGTCCACGTTGAGTCTTGGTGGACTAGAAGTTTGCTAGGGAGAGGGCTTGAAACGAGGTAGATTGGCGTTGCTGGTGTAGAAAAGGAAGGAGACTGGCCCAGGTGGGTGGGGTTAGATGACCAAAGGCTTTTAGTGTGGTGTTGAGCTGTTGAAATTTTATGCTGTAGCCAATGAAAAGTCTGAAATGTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTACTGTGTCGCCCAGGTTGGAGTTCAGTGGTGTAATCCTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCACCGGAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCTCCCGATGTGCTGGGATTACAGGTATTAGCCACTGCACCTGACCTACATAGATTTTACATAAGACTTTAAAACAGGGCGGGCGCAGTGACTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCTGTCTACACTAAAAATACAAAAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCCAGACCATCCTGGTTAACACTGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGCGGTGGCAGGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGACTTTAAAAAAAATTATAAGAAAGGACAGACCAAGTGCAGTGGTTCGTTCCAGCACTTAGGGATGCCAAGGTGGGAGGATTGCTTGATGCTAGGAGTTGAAGA	T	T47403364C	MSH2	NM_000251.3(MSH2):c.173_211+2147del	coding	Pathogenic
2	47403371	CCAGGGGGTG	ACCCCC	C47403371A	MSH2	NM_000251.3(MSH2):c.180_189delinsACCCCC:p.Gln61fs	coding	Pathogenic
2	47403382	TC	T	C47403383A	MSH2	NM_000251.3(MSH2):c.192del:p.Lys65fs	coding	Pathogenic
2	47408384	CT	C	T47408397A	MSH2	NM_000251.3(MSH2):c.212-4del	noncoding	Benign/Likely_benign
2	47408395	TTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA	T	T47408397A	MSH2	NM_000251.3(MSH2):c.212-4_363del	noncoding	Pathogenic
2	47408398	AAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGG	A	A47408399T	MSH2	NM_000251.3(MSH2):c.212-2_366+1del	noncoding	Pathogenic
2	47408398	AAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTATTTTAAGTAGATTGTGATAGTAGAATGGTTTGAGACACTTTAATAGCAATTAGCATGTGGTTTTTAAAAAGTTGCAGTTTGGCTGGTCGCAGTGGCTCATGCTTGTAATCCCAGTATTTTGGGAGGCTGAGGCAGGTAGGTTGCCTGAGCCCAGGAGTTCAAGACCAGCCTGCCCAACGTGGTAAAGCCCCATCTCTACTGAAGATAAAAAAATTTAAAAAAATTAGCTGGGGCTATTGGCACACACCTGTGGTCCCAGCTAATCAAGAGGATGAGGTTAGAGGATCACTTGAGCCCAGGAGGTTGAGGTTACAGTTTAACTTTCAGAGGCCAAGGCAGGAGGATTGCTTGAGTCCAGGAGTTTGAGACCACCCTGGGGAATGTAGGGAGATCCCATCTCTATAGAGGGATAGATTAGATAGATAATTTCTGAGGGGAGGGGAGGGGGAGGGCCAGGGAAGGGGAGGGAAAGGGGAGGGGAGGGCAGGGCCAGCAGTAAGGTCATAATAGAGACATGTATCTGTAAGATCCTTATAATAGGTGAGGATGGCCACAAATTAGCGCCACAGATTTGTATTTTTAGTAGAGACAAGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTG	A	G47408400C	MSH2	NM_000251.3(MSH2):c.212-1_366+712del	noncoding	Pathogenic
2	47408425	TG	T	G47408426C	MSH2	NM_000251.3(MSH2):c.237del:p.Ser81fs	coding	Pathogenic
2	47408435	AA	T	A47408435T	MSH2	NM_000251.3(MSH2):c.246_247delinsT:p.Lys82fs	coding	Pathogenic
2	47408444	TG	T	G47408445A	MSH2	NM_000251.3(MSH2):c.256del:p.Glu86fs	coding	Pathogenic
2	47408454	GT	G	T47408455A	MSH2	NM_000251.3(MSH2):c.266del:p.Val89fs	coding	Pathogenic
2	47408455	TA	T	A47408459G	MSH2	NM_000251.3(MSH2):c.270del:p.Asp91fs	coding	Pathogenic
2	47408462	TC	T	C47408463T	MSH2	NM_000251.3(MSH2):c.274del:p.Leu92fs	coding	Pathogenic
2	47408465	T	TA	C47408466A	MSH2	NM_000251.3(MSH2):c.276_277insA:p.Leu93fs	coding	Pathogenic
2	47408468	TC	T	C47408469T	MSH2	NM_000251.3(MSH2):c.280del:p.Leu94fs	coding	Pathogenic
2	47408472	G	GT	C47408475T	MSH2	NM_000251.3(MSH2):c.285dup:p.Arg96fs	coding	Pathogenic
2	47408472	GTTCGTCAGTATAGAGT	G	T47408474G	MSH2	NM_000251.3(MSH2):c.285_300del:p.Arg96fs	coding	Pathogenic
2	47408482	ATAGAGTTGAAGTT	A	G47408485T	MSH2	NM_000251.3(MSH2):c.296_308del:p.Arg99fs	coding	Pathogenic
2	47408489	TG	T	G47408490A	MSH2	NM_000251.3(MSH2):c.301del:p.Glu101fs	coding	Pathogenic
2	47408493	GT	G	T47408496A	MSH2	NM_000251.3(MSH2):c.307del:p.Tyr103fs	coding	Pathogenic
2	47408496	TA	T	A47408497T	MSH2	NM_000251.3(MSH2):c.308del:p.Tyr103fs	coding	Pathogenic
2	47408507	A	AAATAAGGCAT	G47408508A	MSH2	NM_000251.3(MSH2):c.318_319insAATAAGGCAT:p.Ala107fs	coding	Pathogenic
2	47408508	G	AATAAGGCATC	G47408508A	MSH2	NM_000251.3(MSH2):c.319delinsAATAAGGCATC:p.Ala107fs	coding	Pathogenic
2	47408516	TAAGGCATCCA	T	A47408518G	MSH2	NM_000251.3(MSH2):c.329_338del:p.Lys110fs	coding	Pathogenic
2	47408518	A	AG	C47408521G	MSH2	NM_000251.3(MSH2):c.331dup:p.Ala111fs	coding	Pathogenic
2	47408548	CAT	C	T47408552A	MSH2	NM_000251.3(MSH2):c.363_364del:p.Tyr121_Lys122delinsTer	coding	Pathogenic
2	47408548	C	CAT	A47408554T	MSH2	NM_000251.3(MSH2):c.363_364dup:p.Lys122fs	coding	Pathogenic
2	47408553	A	ACG	A47408554C	MSH2	NM_000251.3(MSH2):c.364_365insCG:p.Lys122fs	coding	Pathogenic
2	47410073	TA	T	A47410077T	MSH2	NM_000251.3(MSH2):c.367-17del	noncoding	Benign
2	47410089	CTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCGTGATCCACCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCATGCTCGGCTTTGATTGTGTCATTTGTATAGGCATGTGGTTTATTATTTAGTTATTTT	C	A47410092T	MSH2	NM_000251.3(MSH2):c.367-2_645+742del	noncoding	Pathogenic
2	47410090	TTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTG	T	A47410092C	MSH2	NM_000251.3(MSH2):c.367-2_645+432del	noncoding	Pathogenic
2	47410090	TTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCGTG	T	T47410091A	MSH2	NM_000251.3(MSH2):c.367-3_645+631del	noncoding	Pathogenic
2	47410091	TAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGG	T	A47410092T	MSH2	NM_000251.3(MSH2):c.367-2_645+1del	noncoding	Pathogenic
2	47410095	CT	C	T47410097C	MSH2	NM_000251.3(MSH2):c.370del:p.Ser124fs	coding	Pathogenic
2	47410099	TC	T	C47410101T	MSH2	NM_000251.3(MSH2):c.374del:p.Pro125fs	coding	Pathogenic
2	47410102	TG	T	G47410104C	MSH2	NM_000251.3(MSH2):c.377del:p.Gly126fs	coding	Pathogenic
2	47410103	GGCAATCTCT	CA	G47410103C	MSH2	NM_000251.3(MSH2):c.376_385delinsCA:p.Gly126fs	coding	Pathogenic
2	47410105	CAA	C	A47410106T	MSH2	NM_000251.3(MSH2):c.379_380del:p.Asn127fs	coding	Pathogenic
2	47410105	CA	C	A47410107T	MSH2	NM_000251.3(MSH2):c.380del:p.Asn127fs	coding	Pathogenic
2	47410107	ATCTC	A	T47410112A	MSH2	NM_000251.3(MSH2):c.385_388del:p.Gln130fs	coding	Pathogenic
2	47410117	G	GTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCA	G47410163T	MSH2	NM_000251.3(MSH2):c.393_435dup:p.Gly146Ter	coding	Pathogenic
2	47410121	G	GTT	A47410122T	MSH2	NM_000251.3(MSH2):c.394_395insTT:p.Glu132fs	coding	Pathogenic
2	47410126	CAT	C	A47410127T	MSH2	NM_000251.3(MSH2):c.400_401del:p.Ile134fs	coding	Pathogenic
2	47410146	A	ATT	A47410148T	MSH2	NM_000251.3(MSH2):c.420_421insTT:p.Met141fs	coding	Pathogenic
2	47410151	T	TC	A47410153C	MSH2	NM_000251.3(MSH2):c.425dup:p.Ala143fs	coding	Pathogenic
2	47410163	G	GGTGTT	G47410172T	MSH2	NM_000251.3(MSH2):c.440_444dup:p.Gly149fs	coding	Pathogenic
2	47410166	GT	G	T47410168G	MSH2	NM_000251.3(MSH2):c.441del:p.Val148fs	coding	Pathogenic
2	47410184	TC	T	C47410186G	MSH2	NM_000251.3(MSH2):c.459del:p.Ala154fs	coding	Pathogenic
2	47410190	G	GT	G47410193T	MSH2	NM_000251.3(MSH2):c.465dup:p.Asp156Ter	coding	Pathogenic
2	47410200	AG	A	G47410201A	MSH2	NM_000251.3(MSH2):c.474del:p.Arg159fs	coding	Pathogenic
2	47410200	AGAGACAG	A	A47410202T	MSH2	NM_000251.3(MSH2):c.475_481del:p.Arg159fs	coding	Pathogenic
2	47410203	GAC	G	C47410205G	MSH2	NM_000251.3(MSH2):c.478_479del:p.Gln160fs	coding	Pathogenic
2	47410208	GT	G	T47410210G	MSH2	NM_000251.3(MSH2):c.483del:p.Gly162fs	coding	Pathogenic
2	47410216	TG	T	G47410219T	MSH2	NM_000251.3(MSH2):c.492del:p.Tyr165fs	coding	Pathogenic
2	47410217	G	GA	G47410218A	MSH2	NM_000251.3(MSH2):c.490_491insA:p.Gly164fs	coding	Pathogenic
2	47410218	G	AT	G47410218A	MSH2	NM_000251.3(MSH2):c.491delinsAT:p.Gly164fs	coding	Pathogenic
2	47410220	TA	T	A47410221T	MSH2	NM_000251.3(MSH2):c.494del:p.Tyr165fs	coding	Pathogenic
2	47410223	G	GT	G47410225T	MSH2	NM_000251.3(MSH2):c.497dup:p.Asp167fs	coding	Pathogenic
2	47410227	AT	A	T47410229C	MSH2	NM_000251.3(MSH2):c.502del:p.Ser168fs	coding	Pathogenic
2	47410227	ATT	A	T47410228C	MSH2	NM_000251.3(MSH2):c.501_502del:p.Ser168fs	coding	Pathogenic
2	47410239	G	GAT	G47410240A	MSH2	NM_000251.3(MSH2):c.512_513insAT:p.Arg171_Lys172insTer	coding	Pathogenic
2	47410240	GA	G	A47410243C	MSH2	NM_000251.3(MSH2):c.516del:p.Lys172fs	coding	Pathogenic
2	47410257	AATT	TTC	A47410257T	MSH2	NM_000251.3(MSH2):c.530_533delinsTTC:p.Glu177fs	coding	Pathogenic
2	47410260	TCCCTGATAATGATC	T	C47410261A	MSH2	NM_000251.3(MSH2):c.534_547del:p.Phe178fs	coding	Pathogenic
2	47410264	TG	T	G47410265A	MSH2	NM_000251.3(MSH2):c.538del:p.Asp180fs	coding	Pathogenic
2	47410273	TC	T	C47410274A	MSH2	NM_000251.3(MSH2):c.547del:p.Gln183fs	coding	Pathogenic
2	47410275	AGT	A	G47410276T	MSH2	NM_000251.3(MSH2):c.549_550del:p.Gln183fs	coding	Pathogenic
2	47410293	CT	C	T47410294C	MSH2	NM_000251.3(MSH2):c.567del:p.Leu190fs	coding	Pathogenic
2	47410307	A	AT	G47410310T	MSH2	NM_000251.3(MSH2):c.582dup:p.Gly195fs	coding	Pathogenic
2	47410314	CA	C	A47410317G	MSH2	NM_000251.3(MSH2):c.590del:p.Lys197fs	coding	Pathogenic
2	47410321	A	ATG	T47410327G	MSH2	NM_000251.3(MSH2):c.598_599dup:p.Leu201fs	coding	Pathogenic
2	47410321	ATG	A	G47410325T	MSH2	NM_000251.3(MSH2):c.598_599del:p.Val200fs	coding	Pathogenic
2	47410325	G	GTA	T47410327A	MSH2	NM_000251.3(MSH2):c.599_600insAT:p.Leu201fs	coding	Pathogenic
2	47410334	G	GGAGGAGAGACTGGGT	C47410347G	MSH2	NM_000251.3(MSH2):c.608_619GAG[2]AGACTGGGTGAGGAGAGACTG[1]:p.Ala207delinsGlyTer	coding	Pathogenic
2	47410335	GAGGAGAGACTGC	AGGAA	G47410335A	MSH2	NM_000251.3(MSH2):c.608_620delinsAGGAA:p.Gly203fs	coding	Pathogenic
2	47410339	AG	A	G47410340A	MSH2	NM_000251.3(MSH2):c.613del:p.Glu205fs	coding	Pathogenic
2	47410355	AT	A	T47410356G	MSH2	NM_000251.3(MSH2):c.629del:p.Met210fs	coding	Pathogenic
2	47410364	CT	C	T47410365G	MSH2	NM_000251.3(MSH2):c.638del:p.Leu213fs	coding	Pathogenic
2	47412367	TC	T	C47412368T	MSH2	NM_000251.3(MSH2):c.646-46del	noncoding	Benign
2	47412409	AATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCAAAACCTAAACTGTGTATCAATGATATTAAGCTTTTTTTTTTTTTTGAGACAGAGTTTCACTTTTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTTGGCTCACCACATCCTCTGCCTCCCAGGTTCAAGTGATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATCTTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGGTCAGGCTGGTCTCAAACTCCTGAACCTCAGGTGATCCGCCCGCCTCGGGCTTCCAAAGCGCTGAGATTGCAGGCATGAGCCACTGTGTCTGGCCTATTTTTATAGTTTATGTACTTGGAATTATATAAT	A	G47412413T	MSH2	NM_000251.3(MSH2):c.646-1_792+486del	noncoding	Pathogenic
2	47412414	AT	A	T47412415A	MSH2	NM_000251.3(MSH2):c.647del:p.Ile216fs	coding	Pathogenic
2	47412415	T	TAA	T47412418A	MSH2	NM_000251.3(MSH2):c.648_649dup:p.Ile217fs	coding	Pathogenic
2	47412415	T	TTG	A47412416T	MSH2	NM_000251.3(MSH2):c.647_648insTG:p.Ile217fs	coding	Pathogenic
2	47412422	AAG	A	A47412425G	MSH2	NM_000251.3(MSH2):c.657_658del:p.Gly220fs	coding	Pathogenic
2	47412424	GA	G	A47412425G	MSH2	NM_000251.3(MSH2):c.657del:p.Gly220fs	coding	Pathogenic
2	47412428	AG	A	G47412430A	MSH2	NM_000251.3(MSH2):c.662del:p.Gly221fs	coding	Pathogenic
2	47412447	AG	A	G47412448A	MSH2	NM_000251.3(MSH2):c.680del:p.Arg227fs	coding	Pathogenic
2	47412448	GAAAA	G	A47412452G	MSH2	NM_000251.3(MSH2):c.684_687del:p.Lys229fs	coding	Pathogenic
2	47412449	AAAAAAAGC	GAAAAAGG	A47412449G	MSH2	NM_000251.3(MSH2):c.681_689delinsGAAAAAGG:p.Ala230fs	coding	Pathogenic
2	47412449	AA	C	A47412449C	MSH2	NM_000251.3(MSH2):c.681_682delinsC:p.Arg227fs	coding	Pathogenic
2	47412456	GC	G	C47412457T	MSH2	NM_000251.3(MSH2):c.689del:p.Ala230fs	coding	Pathogenic
2	47412461	CT	C	T47412465C	MSH2	NM_000251.3(MSH2):c.697del:p.Ser233fs	coding	Pathogenic
2	47412465	TC	T	C47412467A	MSH2	NM_000251.3(MSH2):c.699del:p.Thr234fs	coding	Pathogenic
2	47412476	CA	C	A47412477T	MSH2	NM_000251.3(MSH2):c.709del:p.Ile237fs	coding	Pathogenic
2	47412477	AT	A	T47412480A	MSH2	NM_000251.3(MSH2):c.712del:p.Tyr238fs	coding	Pathogenic
2	47412478	TTTATC	AAAGGTTCCACAAA	T47412478A	MSH2	NM_000251.3(MSH2):c.710_715delinsAAAGGTTCCACAAA:p.Ile237fs	coding	Pathogenic
2	47412484	AG	A	G47412486A	MSH2	NM_000251.3(MSH2):c.718del:p.Asp240fs	coding	Pathogenic
2	47412490	TC	T	C47412491A	MSH2	NM_000251.3(MSH2):c.723del:p.Asn242fs	coding	Pathogenic
2	47412493	AC	A	C47412495G	MSH2	NM_000251.3(MSH2):c.727del:p.Arg243fs	coding	Pathogenic
2	47412514	AG	A	G47412517A	MSH2	NM_000251.3(MSH2):c.749del:p.Gly250fs	coding	Pathogenic
2	47412522	C	CAGAT	G47412527A	MSH2	NM_000251.3(MSH2):c.755_758dup:p.Met253fs	coding	Pathogenic
2	47412527	G	GA	T47412530A	MSH2	NM_000251.3(MSH2):c.761dup:p.Asn254fs	coding	Pathogenic
2	47412530	TA	T	A47412531G	MSH2	NM_000251.3(MSH2):c.763del:p.Ser255fs	coding	Pathogenic
2	47412531	AGTGCTGTATTGCC	A	G47412532A	MSH2	NM_000251.3(MSH2):c.764_776del:p.Ser255fs	coding	Pathogenic
2	47412532	G	GT	G47412534T	MSH2	NM_000251.3(MSH2):c.765dup:p.Ala256fs	coding	Pathogenic
2	47412536	TGTATTGCCAGAAATGGA	T	T47412538A	MSH2	NM_000251.3(MSH2):c.770_786del:p.Val257fs	coding	Pathogenic
2	47412546	GAA	TT	G47412546T	MSH2	NM_000251.3(MSH2):c.778_780delinsTT:p.Glu260fs	coding	Pathogenic
2	47412550	T	TG	A47412553G	MSH2	NM_000251.3(MSH2):c.784dup:p.Glu262fs	coding	Pathogenic
2	47412556	AT	A	T47412557C	MSH2	NM_000251.3(MSH2):c.789del:p.Gln264fs	coding	Pathogenic
2	47412561	GT	AC	G47412561A	MSH2	NM_000251.3(MSH2):c.792+1_792+2inv	coding	Pathogenic
2	47414264	TTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGTGCCCAGCCTACTTTTTACTTTTTTAGAGACTGGGCTTGGTGGAGTGAAGTGGCAAGATCATAGCTCACTGCAGTATTGAACTCCTGGGCTCAAGCGATCTTCCTGCTTCAACCTCATGAGTAGCTGGGTCTACAGGCACAAGCCACCATGCTTGCCTAATTTTAAAATTTTTGCAGAGTTGGAGTTTCACAGTGTTGCCCAGGATGTTCGCTCACTCCTGACTTCAAGTGATTCTTCTGCCTTAGCCTCTAGAGTGGTAGCTGGGATTACAGGCATGAACCACCATGCTCTGCTATTTTTTTTCAAGGTTTTTTTTTTTTTTTTTTTTTTTGAGAGACTGGTATGACTATGTATGCTCCCTAGGCTGGAGTGCAGTGGCTATTCACAGGAAGTGCCATCAGAGTGTACTACAGCTTCAAACTCCTGGGCTCAAGCACTTCTATCATAGTCTCCAAAGTAGCTGGGACTACGAGTGTGTCTCATTGTGCCTTGCTCTCGAATTGCTTTTTTTTTTTTTTTCTGGTTTCAAGCTATCTATGTGGTATTAGTCCTCACTTTATGAATAATTTTGTATACTACTAATAGCAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAACCTCTGCCTCTCCGGTTTGGGCAATTAGCTGGGATTAGAGGCGCCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCATCTTGTTGGCTAGGCTGGACTCTAACTCCAGGTGATCTGCCTGCCTCGGCCTCCCAAATTGATGGGATTACAGGTGTAAACCACTGGGCCTGGCCTAGCAATTTAAAATGACATTCTAAGAAGTTTTATGTCTAAATCTGCAGTAAGTGGCTGGGTGACGTGGCTCATGCCTGTAATCCCAACGCTTTGGGAGTCCAGGGTGGGAGGATGACTTGAGGCCAGGAGTTGAGACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAAGAAAAAATTAGCGGGGCTTAGTGGCGTGCGCCTGTAGTCTCAGCTACTCGAAAGGCTGAAGTGGGAGGATTCTTTGAGCCCCAAGGGTTCTGGCTTGCCGTGAGCCAGGATGGCACCACTGCACTCCAGTCTGGGCAATAGAGTCAGACCCTGTCTCAACAAATAAAATAAAACTGTAGTAATTATAAAGTGGTTTTGGCTGGGGGAGAAATGTACAGTTGAACATACGGATTAAGAGGTTGAAAGTTGGTCTTAGGAAGAGGAACTTTTTGTGGAAATTTCTTAATATTTGAAGAATATTATGTTATTGTTCCTCTGTTTTTCATGGCGTAGTAAGGTTTTCACTAATGAGCTTGCCATTCTTTCTATTTTA	T	A47414267T	MSH2	NM_000251.3(MSH2):c.793-2_943-14del	noncoding	Pathogenic
2	47414267	AGGTTG	A	G47414268C	MSH2	NM_000251.3(MSH2):c.793-1_796del	noncoding	Pathogenic
2	47414271	TGC	T	G47414272A	MSH2	NM_000251.3(MSH2):c.796_797del:p.Ala266fs	coding	Pathogenic
2	47414275	G	GT	C47414279T	MSH2	NM_000251.3(MSH2):c.802dup:p.Ser268fs	coding	Pathogenic
2	47414275	GT	G	T47414278C	MSH2	NM_000251.3(MSH2):c.802del:p.Ser268fs	coding	Pathogenic
2	47414275	GTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTC	G	T47414278A	MSH2	NM_000251.3(MSH2):c.802_839del:p.Ser268fs	coding	Pathogenic
2	47414297	T	TG	C47414298G	MSH2	NM_000251.3(MSH2):c.821_822insG:p.Ile274fs	coding	Pathogenic
2	47414301	GT	G	T47414306A	MSH2	NM_000251.3(MSH2):c.830del:p.Phe276_Leu277insTer	coding	Pathogenic
2	47414312	TCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAG	T	C47414318A	MSH2	NM_000251.3(MSH2):c.842_942+89del	coding	Pathogenic
2	47414315	T	TA	T47414317A	MSH2	NM_000251.3(MSH2):c.840dup:p.Ser281fs	coding	Pathogenic
2	47414319	A	AT	G47414320T	MSH2	NM_000251.3(MSH2):c.843_844insT:p.Asp282Ter	coding	Pathogenic
2	47414320	GATGA	G	A47414321T	MSH2	NM_000251.3(MSH2):c.845_848del:p.Asp282fs	coding	Pathogenic/Likely_pathogenic
2	47414331	CTT	C	T47414333G	MSH2	NM_000251.3(MSH2):c.857_858del:p.Phe286fs	coding	Pathogenic
2	47414340	G	GT	G47414344T	MSH2	NM_000251.3(MSH2):c.867dup:p.Glu290Ter	coding	Pathogenic
2	47414340	G	GTT	G47414344T	MSH2	NM_000251.3(MSH2):c.866_867dup:p.Glu290fs	coding	Pathogenic/Likely_pathogenic
2	47414343	TGA	T	G47414344A	MSH2	NM_000251.3(MSH2):c.868_869del:p.Glu290fs	coding	Pathogenic
2	47414348	TG	T	G47414349A	MSH2	NM_000251.3(MSH2):c.873del:p.Thr292fs	coding	Pathogenic
2	47414354	C	CTTTTGACT	C47414364T	MSH2	NM_000251.3(MSH2):c.880_887dup:p.Ser297fs	coding	Pathogenic
2	47414355	T	GTA	T47414355G	MSH2	NM_000251.3(MSH2):c.879delinsGTA:p.Phe294fs	coding	Pathogenic
2	47414361	CT	C	T47414363C	MSH2	NM_000251.3(MSH2):c.887del:p.Phe296fs	coding	Pathogenic
2	47414383	GA	G	A47414384T	MSH2	NM_000251.3(MSH2):c.908del:p.Asp303fs	coding	Pathogenic
2	47414392	GCA	G	C47414393G	MSH2	NM_000251.3(MSH2):c.917_918del:p.Ala306fs	coding	Pathogenic
2	47414392	GCAGT	G	T47414396A	MSH2	NM_000251.3(MSH2):c.920_923del:p.Val307fs	coding	Pathogenic
2	47414396	T	TC	A47414398C	MSH2	NM_000251.3(MSH2):c.921dup:p.Arg308fs	coding	Pathogenic
2	47414397	CAG	C	A47414400C	MSH2	NM_000251.3(MSH2):c.924_925del:p.Arg308fs	coding	Pathogenic
2	47414397	C	CAG	C47414402A	MSH2	NM_000251.3(MSH2):c.924_925dup:p.Ala309fs	coding	Pathogenic
2	47414401	GCCCTTAA	G	C47414404T	MSH2	NM_000251.3(MSH2):c.928_934del:p.Leu310fs	coding	Pathogenic
2	47414401	GC	G	C47414404T	MSH2	NM_000251.3(MSH2):c.928del:p.Asn311fs	coding	Pathogenic
2	47414404	CT	C	T47414406A	MSH2	NM_000251.3(MSH2):c.930del:p.Asn311fs	coding	Pathogenic
2	47414405	T	TA	T47414406A	MSH2	NM_000251.3(MSH2):c.929_930insA:p.Leu310_Asn311insTer	coding	Pathogenic
2	47414407	A	AAG	C47414409G	MSH2	NM_000251.3(MSH2):c.932_933insGA:p.Asn311fs	coding	Pathogenic
2	47414409	C	CAA	C47414410A	MSH2	NM_000251.3(MSH2):c.933_934insAA:p.Leu312fs	coding	Pathogenic
2	47414410	C	CT	C47414416T	MSH2	NM_000251.3(MSH2):c.939dup:p.Gln314fs	coding	Pathogenic
2	47414419	GTAAAAAAAAA	G	T47414420A	MSH2	NM_000251.3(MSH2):c.942+2_942+11del	coding	Pathogenic
2	47414420	T	TAAAAAAAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+8_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+9_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+10_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+11_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+12_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+13_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+14_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+15_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+16_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+18_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+19_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+20_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+21_942+29dup	noncoding	Benign
2	47414420	T	TAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+24_942+29dup	noncoding	Benign
2	47414420	T	TAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+25_942+29dup	noncoding	Benign
2	47414420	T	TAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+26_942+29dup	noncoding	Benign
2	47414420	T	TAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+27_942+29dup	noncoding	Benign
2	47414420	T	TAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+28_942+29dup	noncoding	Benign
2	47414420	T	TA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+29dup	noncoding	Benign
2	47416293	TAGGGTTCTGTTGAAGATACCACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCCCTCAAGGACAAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGAACAGAATAGAGGAGAGG	T	A47416294T	MSH2	NM_000251.3(MSH2):c.943-2_1076+1del	noncoding	Pathogenic
2	47416297	GT	G	T47416299C	MSH2	NM_000251.3(MSH2):c.946del:p.Ser316fs	coding	Pathogenic
2	47416298	TTCTGTTGAAGATACCA	T	T47416299C	MSH2	NM_000251.3(MSH2):c.946_961del:p.Ser316fs	coding	Pathogenic
2	47416300	C	CT	G47416302T	MSH2	NM_000251.3(MSH2):c.948dup:p.Val317fs	coding	Pathogenic
2	47416306	AAGAT	A	G47416308C	MSH2	NM_000251.3(MSH2):c.955_958del:p.Asp319fs	coding	Pathogenic
2	47416308	GAT	G	T47416310C	MSH2	NM_000251.3(MSH2):c.957_958del:p.Thr320fs	coding	Pathogenic
2	47416311	AC	A	C47416313A	MSH2	NM_000251.3(MSH2):c.960del:p.Thr321fs	coding	Pathogenic
2	47416315	CT	C	T47416316G	MSH2	NM_000251.3(MSH2):c.963del:p.Gly322fs	coding	Pathogenic
2	47416316	TG	T	G47416318C	MSH2	NM_000251.3(MSH2):c.965del:p.Gly322fs	coding	Pathogenic
2	47416318	GCTCTCAGT	G	C47416323G	MSH2	NM_000251.3(MSH2):c.970_977del:p.Gln324fs	coding	Pathogenic
2	47416323	C	CA	G47416325A	MSH2	NM_000251.3(MSH2):c.971dup:p.Ser325fs	coding	Pathogenic
2	47416328	TCTGG	T	G47416332C	MSH2	NM_000251.3(MSH2):c.979_982del:p.Ala327fs	coding	Pathogenic
2	47416343	GA	G	A47416345T	MSH2	NM_000251.3(MSH2):c.992del:p.Asn331fs	coding	Pathogenic
2	47416348	AGT	A	G47416351A	MSH2	NM_000251.3(MSH2):c.998_999del:p.Lys332_Cys333insTer	coding	Pathogenic
2	47416349	G	GT	G47416351T	MSH2	NM_000251.3(MSH2):c.997dup:p.Cys333fs	coding	Pathogenic
2	47416351	G	GT	A47416353T	MSH2	NM_000251.3(MSH2):c.999dup:p.Lys334Ter	coding	Pathogenic
2	47416352	TA	T	A47416356C	MSH2	NM_000251.3(MSH2):c.1003del:p.Thr335fs	coding	Pathogenic
2	47416366	G	GA	C47416368A	MSH2	NM_000251.3(MSH2):c.1014dup:p.Gln339fs	coding	Pathogenic
2	47416368	CA	C	A47416371G	MSH2	NM_000251.3(MSH2):c.1018del:p.Arg340fs	coding	Pathogenic
2	47416376	TG	T	G47416377T	MSH2	NM_000251.3(MSH2):c.1024del:p.Val342fs	coding	Pathogenic
2	47416376	TGTTAACCA	T	T47416379G	MSH2	NM_000251.3(MSH2):c.1026_1033del:p.Asn343fs	coding	Pathogenic
2	47416381	AC	A	C47416383A	MSH2	NM_000251.3(MSH2):c.1030del:p.Gln344fs	coding	Pathogenic
2	47416383	CA	C	A47416384G	MSH2	NM_000251.3(MSH2):c.1031del:p.Gln344fs	coding	Pathogenic
2	47416392	A	AAGCAGCCTCTCATGGATAAGAACAGAAT	A47416423C	MSH2	NM_000251.3(MSH2):c.1042_1069dup:p.Glu357delinsAlaAlaSerHisGlyTer	coding	Pathogenic
2	47416395	CAG	C	A47416396C	MSH2	NM_000251.3(MSH2):c.1043_1044del:p.Gln348fs	coding	Pathogenic
2	47416401	CT	C	T47416402C	MSH2	NM_000251.3(MSH2):c.1049del:p.Leu350fs	coding	Pathogenic
2	47416415	CAGAAT	C	A47416419G	MSH2	NM_000251.3(MSH2):c.1066_1070del:p.Ile356fs	coding	Pathogenic
2	47416423	A	AG	A47416426G	MSH2	NM_000251.3(MSH2):c.1072dup:p.Glu358fs	coding	Pathogenic
2	47416425	G	GA	G47416427A	MSH2	NM_000251.3(MSH2):c.1073dup:p.Arg359fs	coding	Pathogenic
2	47416593	AT	A	T47416600A	MSH2	NM_000251.3(MSH2):c.1076+171del	noncoding	Benign/Likely_benign
2	47416607	GT	G	T47416619C	MSH2	NM_000251.3(MSH2):c.1076+190del	noncoding	Benign
2	47427873	ATGTAGGAACATTTTCCCACCTTCGATTGTTAGTTTACCTTTCAGCTTCAGTAATTTACCTTTCAGCTATTACTTTAGTAACATCTTCAACATTGTTTTTCAAACTGCAAGGTGTGACCCAGTAGTGGGTCGTTAAATTAGTAGGTGACAGAGCATTTTTGAAGAATTAAATACAATAGAACATAGCAGAGTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGAGGCTGGCAGGTCACAAGGTCGGCAGGTCACAAGGTCAGAAGATCGAGACCTTCCTGGCTCTAACATGGTGAAACCCCGTCTCTACTAATAGTACAAAAAATTAGCGGGGTGTGGTGGCATGCGTCTCTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAATCCGGGAGCTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTCAGCAACAGAGCAAGACTATTTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAGAAAATAGAGTGTATCACATAATTAGAGTAGCAAGTATTGATTTGTGAAACCTATTTTAATCATAGATCTATGTATGTATGTGCTGGATTGTGATGTAAAGACATTTCTTGCTGTGGTTACACTGAAAAAAATGAAAAGTCACTGATTTCCAATAACTTACAGAAGCAGTATGAACTACATATTCTGTCGTTCTTGAAACAAGCTGAGATTTTATTGACTTTGGGAAGCAGTAGAATTATTTTAGTTTTTTAATTAACAGTTTTTGGCTTTGTACTGTCAAGAGGTAATTTTAGAAAGCATTCTAAAAATGTAAGTACTGGATTTGGCAACATTCTTGAACTGTAATTCTGTTTCGTTAAACATCACTATTTACATGTGCAACAGCGTGTCTGTAACAATGTCCCAGTAATGAAATTCTTTCTTCTATTTAAGGCATGTCTGTTTGATAAAAGTCAAACAAAATTGGGTATATGTCAGTGTCTTATGATACTGCTTAATTAAACATTAATTTGACTCTTAGCTAATCAGGAAATGTTTGCCTCACAGTCTTACAGAGCTTTCCACCTTCTAAAAAAGCTAACGTTTCAGAATAGATTCAGGATTCAACCTTCTTTCTGTCTTTTTTTTTTTTTGTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCGCTATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGGTTACAGGCGTGCGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTGGGTGGCCAGGCGGGTCTCAAACTTCTGACCTTGAGATCTGCCCACCGTGGCTTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCGCACCTAGCCTAGATTCAGGCTGCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCATGATCTCAGTGCACCACAATCTCTGCTTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGATGGGATCACAGGCATGAGCCACCATGCCTGGCTAATTTTGTATTTTTTGTACAGACGGGGTTTCTCCATGTTGGTCAGGCCAGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTTTTTTTTTTTTTTTTGAGAAGGAGTCTTGCTCCGTTGCCAAGGCTAGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTGTACTTTTAGTTTTACCATGTTGGCCAGGTTCGTCTGGAACTCCCAATCTCAGGTGACCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACAGAGCCTGGCCATGTTCAGACTTCTAATAACAGGTTTGTATTGACTCTTAGCCTCATGGCAGAAGCCAAGAGACATGAGACAGCTTAGAAATTTTTGCTTTTTGGAAATGAATGTTAGAGTTACTGGTTTGTGATTAAGGCCTATTGCACTGACAGAGGCAGTGAAAAAGGGTTTGATTGCCAAGGAAGATTCACAGGGCCTAGAATGGCAGTGGTTATGCATCTACAGTTTATTACAGGAGAAGGATACAATCCAGTAGCAGGATTATGGTAAGGATATGCATCACAGTCAAAGGCTGTCATAGCAAGTCATCCAGAGAGTTCGGGTGCAAGTTCCAGTTTTCCTT	A	A47427877T	MSH2	NM_000251.3(MSH2):c.1077-1865_1276+742del	noncoding	Pathogenic
2	47429739	CAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGG	C	A47429740T	MSH2	NM_000251.3(MSH2):c.1077-2_1276+1del	noncoding	Pathogenic
2	47429742	ATTGAATTTAG	TTA	A47429742T	MSH2	NM_000251.3(MSH2):c.1077_1087delinsTTA:p.Arg359fs	coding	Pathogenic
2	47429747	A	AG	T47429748G	MSH2	NM_000251.3(MSH2):c.1082_1083insG:p.Asn361fs	coding	Pathogenic
2	47429753	TG	T	G47429755A	MSH2	NM_000251.3(MSH2):c.1090del:p.Glu364fs	coding	Pathogenic
2	47429757	AG	A	G47429758C	MSH2	NM_000251.3(MSH2):c.1093del:p.Ala365fs	coding	Pathogenic
2	47429764	G	GTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCT	A47429828G	MSH2	NM_000251.3(MSH2):c.1102_1162dup:p.Asn388delinsArgArgCysArgIleGluAlaAspPheThrArgArgPheThrSerSerIleProArgSerTer	coding	Pathogenic
2	47429772	T	TG	C47429774G	MSH2	NM_000251.3(MSH2):c.1108dup:p.Ala370fs	coding	Pathogenic
2	47429794	CAAGAAGA	C	A47429795T	MSH2	NM_000251.3(MSH2):c.1130_1136del:p.Gln377fs	coding	Pathogenic
2	47429795	AAG	A	G47429797A	MSH2	NM_000251.3(MSH2):c.1132_1133del:p.Glu378fs	coding	Pathogenic
2	47429802	T	TTTACTTCGTCGATTCC	C47429819T	MSH2	NM_000251.3(MSH2):c.1138_1153dup:p.Pro385fs	coding	Pathogenic
2	47429805	ACTTCGTCGATT	A	T47429807C	MSH2	NM_000251.3(MSH2):c.1142_1152del:p.Leu381fs	coding	Pathogenic
2	47429808	TCGTCG	T	C47429809A	MSH2	NM_000251.3(MSH2):c.1144_1148del:p.Arg382fs	coding	Pathogenic
2	47429811	T	TC	G47429813C	MSH2	NM_000251.3(MSH2):c.1147dup:p.Arg383fs	coding	Pathogenic
2	47429814	AT	A	T47429816C	MSH2	NM_000251.3(MSH2):c.1151del:p.Phe384fs	coding	Pathogenic
2	47429826	TAA	T	A47429827C	MSH2	NM_000251.3(MSH2):c.1162_1163del:p.Asn388fs	coding	Pathogenic
2	47429826	T	TA	C47429829A	MSH2	NM_000251.3(MSH2):c.1163dup:p.Asn388fs	coding	Pathogenic
2	47429828	AC	A	C47429830G	MSH2	NM_000251.3(MSH2):c.1165del:p.Arg389fs	coding	Pathogenic
2	47429829	CC	GT	C47429829G	MSH2	NM_000251.3(MSH2):c.1164_1165delinsGT:p.Asn388_Arg389delinsLysTer	coding	Pathogenic
2	47429833	CT	C	T47429835G	MSH2	NM_000251.3(MSH2):c.1170del:p.Ala391fs	coding	Pathogenic
2	47429841	G	GA	G47429844A	MSH2	NM_000251.3(MSH2):c.1178dup:p.Phe394fs	coding	Pathogenic
2	47429847	TC	T	C47429848A	MSH2	NM_000251.3(MSH2):c.1183del:p.Gln395fs	coding	Pathogenic
2	47429853	AC	A	C47429854A	MSH2	NM_000251.3(MSH2):c.1189del:p.Gln397fs	coding	Pathogenic
2	47429855	AAGCAG	A	A47429856C	MSH2	NM_000251.3(MSH2):c.1191_1195del:p.Gln397fs	coding	Pathogenic
2	47429860	GC	G	C47429861A	MSH2	NM_000251.3(MSH2):c.1196del:p.Ala399fs	coding	Pathogenic
2	47429864	ACTTACAAGATTGTT	A	C47429865A	MSH2	NM_000251.3(MSH2):c.1200_1213del:p.Asn400fs	coding	Pathogenic
2	47429866	TTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATAC	T	T47429867A	MSH2	NM_000251.3(MSH2):c.1202_1255del:p.Leu401_Gln419delinsTer	coding	Pathogenic
2	47429866	TTACAAGATTGTTACCGACTCTATCAGGG	T	C47429869T	MSH2	NM_000251.3(MSH2):c.1204_1231del:p.Leu401_Gln402insTer	coding	Pathogenic
2	47429878	T	TA	C47429880A	MSH2	NM_000251.3(MSH2):c.1214dup:p.Tyr405Ter	coding	Pathogenic
2	47429879	AC	A	C47429881G	MSH2	NM_000251.3(MSH2):c.1216del:p.Arg406fs	coding	Pathogenic
2	47429886	C	CTT	A47429888T	MSH2	NM_000251.3(MSH2):c.1222_1223insTT:p.Tyr408fs	coding	Pathogenic
2	47429887	T	TA	T47429889A	MSH2	NM_000251.3(MSH2):c.1223dup:p.Tyr408Ter	coding	Pathogenic
2	47429902	CA	C	A47429904C	MSH2	NM_000251.3(MSH2):c.1239del:p.Gln413fs	coding	Pathogenic
2	47429908	CCT	C	C47429909A	MSH2	NM_000251.3(MSH2):c.1244_1245del:p.Pro415fs	coding	Pathogenic
2	47429909	C	CTA	A47429912T	MSH2	NM_000251.3(MSH2):c.1245_1246dup:p.Asn416fs	coding	Pathogenic
2	47429909	CT	C	T47429910A	MSH2	NM_000251.3(MSH2):c.1245del:p.Asn416fs	coding	Pathogenic
2	47429910	TA	T	A47429912T	MSH2	NM_000251.3(MSH2):c.1247del:p.Asn416fs	coding	Pathogenic
2	47429915	TTATACAGGCTCTGG	T	T47429916A	MSH2	NM_000251.3(MSH2):c.1251_1264del:p.Ile418fs	coding	Pathogenic
2	47429922	GGC	G	G47429923T	MSH2	NM_000251.3(MSH2):c.1258_1259del:p.Ala420fs	coding	Pathogenic
2	47429924	CTCTGG	C	T47429925A	MSH2	NM_000251.3(MSH2):c.1260_1264del:p.Leu421fs	coding	Pathogenic
2	47429926	CTGGAAAAACA	G	C47429926G	MSH2	NM_000251.3(MSH2):c.1261_1271delinsG:p.Leu421fs	coding	Pathogenic
2	47429929	GA	G	A47429934C	MSH2	NM_000251.3(MSH2):c.1269del:p.Lys423fs	coding	Pathogenic
2	47429934	AC	A	C47429935A	MSH2	NM_000251.3(MSH2):c.1270del:p.His424fs	coding	Pathogenic
2	47429957	G	GT	G47429965T	MSH2	NM_000251.3(MSH2):c.1276+23dup	noncoding	Benign/Likely_benign
2	47430057	CT	C	T47430073G	MSH2	NM_000251.3(MSH2):c.1276+132del	noncoding	Benign
2	47445545	TAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG	T	A47445546T	MSH2	NM_000251.3(MSH2):c.1277-2_1386+1del	noncoding	Pathogenic
2	47445551	AAC	A	A47445554C	MSH2	NM_000251.3(MSH2):c.1283_1284del:p.His428fs	coding	Pathogenic
2	47445552	A	AC	A47445554C	MSH2	NM_000251.3(MSH2):c.1282dup:p.His428fs	coding	Pathogenic
2	47445558	GA	G	A47445561T	MSH2	NM_000251.3(MSH2):c.1290del:p.Lys430fs	coding	Pathogenic
2	47445567	GT	G	T47445569G	MSH2	NM_000251.3(MSH2):c.1298del:p.Leu433fs	coding	Pathogenic
2	47445569	TG	T	G47445571C	MSH2	NM_000251.3(MSH2):c.1300del:p.Ala434fs	coding	Pathogenic
2	47445569	T	TG	C47445572G	MSH2	NM_000251.3(MSH2):c.1300dup:p.Ala434fs	coding	Pathogenic
2	47445574	GT	G	T47445579G	MSH2	NM_000251.3(MSH2):c.1308del:p.Phe436fs	coding	Pathogenic
2	47445579	TG	T	G47445580T	MSH2	NM_000251.3(MSH2):c.1309del:p.Phe436_Val437insTer	coding	Pathogenic
2	47445580	GT	G	T47445581G	MSH2	NM_000251.3(MSH2):c.1310del:p.Val437fs	coding	Pathogenic
2	47445589	CTTACTGATCTTCGT	C	T47445591C	MSH2	NM_000251.3(MSH2):c.1320_1333del:p.Leu440_Thr441insTer	coding	Pathogenic
2	47445592	A	ACTGAT	T47445600G	MSH2	NM_000251.3(MSH2):c.1324_1328dup:p.Arg444fs	coding	Pathogenic
2	47445607	GA	G	A47445608C	MSH2	NM_000251.3(MSH2):c.1337del:p.Asp446fs	coding	Pathogenic
2	47445609	C	CT	C47445612T	MSH2	NM_000251.3(MSH2):c.1340dup:p.Ser448fs	coding	Pathogenic
2	47445612	CTC	TCAGGAAATGATAGAAA	C47445612T	MSH2	NM_000251.3(MSH2):c.1341_1343delinsTCAGGAAATGATAGAAA:p.Ser448fs	coding	Pathogenic
2	47445613	T	TC	A47445616C	MSH2	NM_000251.3(MSH2):c.1344dup:p.Lys449fs	coding	Pathogenic
2	47445615	C	CA	G47445618A	MSH2	NM_000251.3(MSH2):c.1346dup:p.Phe450fs	coding	Pathogenic
2	47445624	GGAAAT	G	A47445627T	MSH2	NM_000251.3(MSH2):c.1356_1360del:p.Glu452fs	coding	Pathogenic
2	47445625	GA	G	A47445628T	MSH2	NM_000251.3(MSH2):c.1357del:p.Glu452_Met453insTer	coding	Pathogenic
2	47445629	TGATA	T	T47445632A	MSH2	NM_000251.3(MSH2):c.1361_1364del:p.Ile454fs	coding	Pathogenic
2	47445632	TAG	T	G47445634A	MSH2	NM_000251.3(MSH2):c.1363_1364del:p.Glu455fs	coding	Pathogenic
2	47445640	AC	A	C47445641T	MSH2	NM_000251.3(MSH2):c.1370del:p.Thr457fs	coding	Pathogenic
2	47445640	ACTTT	A	C47445641A	MSH2	NM_000251.3(MSH2):c.1370_1373del:p.Thr457fs	coding	Pathogenic
2	47445650	TG	T	G47445652A	MSH2	NM_000251.3(MSH2):c.1381del:p.Asp461fs	coding	Pathogenic
2	47445654	T	TC	A47445656C	MSH2	NM_000251.3(MSH2):c.1384dup:p.Gln462fs	coding	Pathogenic/Likely_pathogenic
2	47445670	CT	C	T47445675A	MSH2	NM_000251.3(MSH2):c.1386+18del	noncoding	Benign/Likely_benign
2	47463024	TTTGCAGGTGGAAAACCATGAATTCCTTGTAAAACCTTCATTTGATCCTAATCTCAGTGAATTAAGAGAAATAATGAATGACTTGGAAAAGAAGATGCAGTCAACATTAATAAGTGCAGCCAGAGATCTTGGTAAGAATGGGTCATTGGAGGTTGGAATAATTCTTTTGTCTATACACTGTATAGACAAAATATTGATGCCAGAATTATTTTATAAGTTCCCTGTCCCCAAGATGATGACTTCACATCTCTGTCAAACAGAAATCGCCCAACAGGCCCTTGTATGATGTCATTTAAACAAGCCCTATTTTAAATGTCACCTCCACTGGTAACAGGATACTCCTAGGAGGATCACCAAGCCCAATTCTTCTAGGAGTAGTGCATTGATTAGGCTTTGGGGTTTCCAAGCAGTTCATTAATGTCACTTTTGGAAAAAGTCTGTCTTTCATACCAGCTTATTAATTCCCTATGGGTTCACACGGTTTTTTTTCCTGGATTTTCATCAAACATGTGTAAGGTACTCAGTACAAAGAAGTTTAGAAATCCAGAACAAAGCAGTGTATTTAAGTAGTAGTAAACTTCCAGATAATCTGATGCCCATATCTACATATATAAAAAATTTGCAAATAGTTCTGTAGAGAGTCCAAACATGGAGTAGATCCCTAATTAAGAGCCTTTGCATTAAAGTCCACCTTCCTCATTTCATAGCTAAGGATATTGAGGCTCAGAGAGTTTATGTGTCTGGAGTTAAAGTTATTTTGTGTTTCCTTAATTTTTGACTTACTAGAAAGTTAAAGTACCTACAGATTTCTGTGTTTCACTATATGTTAACTTGCTTGGCTGGAAGTTTTTCTGCTGATAATTGGTTTTATGAAGGAAGAATCCTGTTAAGAATGCATCATTGGACTGGGTGTGGTGGCTCACGCCTGTAGTGATCCTAGCAGTTTGAGAGACCGAGGTGGGCAGATTGCTTGAGTCCAGGAGTTTGACACTAACCTGGGCAACATGATGAAACCCTGTCTCTACAACAAATACAAAAATTGGCCATACATGGTGGCACGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGAGAGGATCACTTGAGCCAGGGAGGTTGAGGCTATAATGAGCCATAATTGCACTACTGCACTCCAGCCTGGGTGACAGGGTGAGATCCTGTCTCAAAATAAGAAAAGAGAATGCATCATTGGCCAGGCACAGTGACTCATGCCTATAATCCCAATACTTTAGGAGGATCACTTCAGCCCAGGAGTTCAAGACTAGCCTGTGCCACATAGACCACATTTCTACCAAAAATCAAAAGGAAAAAACTTGCTGGGTGTGGTGATGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGAGAGGATTGCTTTAGCTTAGGTGGTTGAGGC	T	T47463026G	MSH2	NM_000251.3(MSH2):c.1387-5_1510+1293del	noncoding	Pathogenic
2	47463044	AATTCCTTGTAAAACCTTCATTTGATCCT	A	T47463046A	MSH2	NM_000251.3(MSH2):c.1402_1429del:p.Phe468fs	coding	Pathogenic
2	47463044	AATTCCTTGTA	T	A47463044T	MSH2	NM_000251.3(MSH2):c.1400_1410delinsT:p.Glu467fs	coding	Pathogenic
2	47463045	A	AT	C47463048T	MSH2	NM_000251.3(MSH2):c.1403dup:p.Leu469fs	coding	Pathogenic
2	47463053	TA	G	T47463053G	MSH2	NM_000251.3(MSH2):c.1409_1410delinsG:p.Val470fs	coding	Pathogenic
2	47463053	T	TA	C47463058A	MSH2	NM_000251.3(MSH2):c.1413dup:p.Pro472fs	coding	Pathogenic
2	47463063	A	AT	G47463067T	MSH2	NM_000251.3(MSH2):c.1422dup:p.Asp475Ter	coding	Pathogenic
2	47463071	CT	C	T47463072A	MSH2	NM_000251.3(MSH2):c.1428del:p.Asn477fs	coding	Pathogenic
2	47463074	ATC	A	T47463077A	MSH2	NM_000251.3(MSH2):c.1433_1434del:p.Leu478fs	coding	Pathogenic
2	47463075	TCT	C	T47463075C	MSH2	NM_000251.3(MSH2):c.1431_1433delinsC:p.Leu478fs	coding	Pathogenic
2	47463078	CAG	C	A47463079T	MSH2	NM_000251.3(MSH2):c.1435_1436del:p.Leu478_Ser479insTer	coding	Pathogenic
2	47463082	GA	G	A47463084T	MSH2	NM_000251.3(MSH2):c.1440del:p.Glu480fs	coding	Pathogenic
2	47463101	AT	A	T47463102G	MSH2	NM_000251.3(MSH2):c.1458del:p.Asn486fs	coding	Pathogenic
2	47463109	G	GAA	G47463114A	MSH2	NM_000251.3(MSH2):c.1468_1469dup:p.Lys491fs	coding	Pathogenic
2	47463125	CA	C	A47463127C	MSH2	NM_000251.3(MSH2):c.1483del:p.Thr495fs	coding	Pathogenic
2	47463127	ACATTAATAAGTGCAGCCAGAGAT	A	A47463129T	MSH2	NM_000251.3(MSH2):c.1485_1507del:p.Leu496fs	coding	Pathogenic
2	47463128	CATTAATA	C	T47463130G	MSH2	NM_000251.3(MSH2):c.1486_1492del:p.Leu496fs	coding	Pathogenic
2	47463128	CATTA	C	T47463131A	MSH2	NM_000251.3(MSH2):c.1487_1490del:p.Thr495_Leu496insTer	coding	Pathogenic
2	47463129	AT	A	T47463131A	MSH2	NM_000251.3(MSH2):c.1487del:p.Thr495_Leu496insTer	coding	Pathogenic
2	47463138	TG	T	G47463139C	MSH2	NM_000251.3(MSH2):c.1495del:p.Ala499fs	coding	Pathogenic
2	47463139	GCAGC	G	C47463143A	MSH2	NM_000251.3(MSH2):c.1499_1502del:p.Ala500fs	coding	Pathogenic
2	47463141	A	AGCCAGAG	A47463149G	MSH2	NM_000251.3(MSH2):c.1498_1504dup:p.Asp502fs	coding	Pathogenic
2	47466656	AG	A	G47466658C	MSH2	NC_000002.11:g.47693796del	noncoding	Pathogenic
2	47466664	A	AC	T47466668C	MSH2	NM_000251.3(MSH2):c.1520dup:p.Gly508fs	coding	Pathogenic
2	47466675	CAG	C	G47466677T	MSH2	NM_000251.3(MSH2):c.1530_1531del:p.Gln510fs	coding	Pathogenic
2	47466678	ATTAAACT	A	T47466679G	MSH2	NM_000251.3(MSH2):c.1532_1538del:p.Ile511fs	coding	Pathogenic
2	47466684	CTG	C	T47466685G	MSH2	NM_000251.3(MSH2):c.1538_1539del:p.Leu513fs	coding	Pathogenic
2	47466684	CTGGATTCCAGTGCACAGTT	C	T47466690A	MSH2	NM_000251.3(MSH2):c.1543_1561del:p.Ser515fs	coding	Pathogenic
2	47466688	AT	A	T47466690C	MSH2	NM_000251.3(MSH2):c.1543del:p.Ser515fs	coding	Pathogenic
2	47466706	GA	G	A47466707T	MSH2	NM_000251.3(MSH2):c.1560del:p.Tyr521fs	coding	Pathogenic
2	47466709	AT	A	T47466711A	MSH2	NM_000251.3(MSH2):c.1564del:p.Tyr522fs	coding	Pathogenic
2	47466713	C	CT	C47466717T	MSH2	NM_000251.3(MSH2):c.1569dup:p.Arg524fs	coding	Pathogenic
2	47466713	CT	C	T47466716C	MSH2	NM_000251.3(MSH2):c.1569del:p.Arg524fs	coding	Pathogenic
2	47466718	GT	G	T47466719G	MSH2	NM_000251.3(MSH2):c.1572del:p.Arg524_Val525insTer	coding	Pathogenic
2	47466735	GAA	G	A47466739G	MSH2	NM_000251.3(MSH2):c.1592_1593del:p.Lys531fs	coding	Pathogenic
2	47466735	GA	G	A47466740G	MSH2	NM_000251.3(MSH2):c.1593del:p.Val532fs	coding	Pathogenic/Likely_pathogenic
2	47466735	G	GA	G47466741A	MSH2	NM_000251.3(MSH2):c.1593dup:p.Val532fs	coding	Pathogenic
2	47466746	TC	T	C47466747G	MSH2	NM_000251.3(MSH2):c.1600del:p.Arg534fs	coding	Pathogenic
2	47466747	CG	C	G47466748T	MSH2	NM_000251.3(MSH2):c.1601del:p.Arg534fs	coding	Pathogenic
2	47466748	G	GT	A47466750T	MSH2	NM_000251.3(MSH2):c.1602dup:p.Asn535Ter	coding	Pathogenic
2	47466749	TA	T	A47466751C	MSH2	NM_000251.3(MSH2):c.1604del:p.Asn535fs	coding	Pathogenic
2	47466751	AC	A	C47466752A	MSH2	NM_000251.3(MSH2):c.1605del:p.Asn535fs	coding	Pathogenic
2	47466755	TA	T	A47466760C	MSH2	NM_000251.3(MSH2):c.1613del:p.Asn538fs	coding	Pathogenic
2	47466755	T	TA	C47466761A	MSH2	NM_000251.3(MSH2):c.1613dup:p.Asn538fs	coding	Pathogenic
2	47466783	AAGAAT	A	A47466784G	MSH2	NM_000251.3(MSH2):c.1637_1641del:p.Lys546fs	coding	Pathogenic
2	47466794	TA	T	A47466797T	MSH2	NM_000251.3(MSH2):c.1650del:p.Lys550fs	coding	Pathogenic
2	47466796	AATTT	A	T47466798C	MSH2	NM_000251.3(MSH2):c.1651_1654del:p.Phe551fs	coding	Pathogenic
2	47466806	CAG	C	A47466807G	MSH2	NM_000251.3(MSH2):c.1660_1661del:p.Ser554fs	coding	Pathogenic
2	47470959	TTGCAGCAAATTGACTTCTTTAAATGAAGAGTATACCAAAAATAAAACAGAATATGAAGAAGCCCAGGATGCCATTGTTAAAGAAATTGTCAATATTTCTTCAGGTAAACTTAATAGAACTAATAATGTTCTGAATGTCACCTGGCTTTTGGTAACAGAAGAAAAATCATGATATTTGAAGTGTGTTTTGTTATTTTCGCAAGCCATTACATTCTGACTATTTAATATGTTAGGTTTCCTATATAAAATAAGGCATGGTATGTTACAGTAGGACACATAACTGGAAGTTACTCTTGCACATAGAAACAAAAAATGGCAGAAAAGCACAAAACTTACTATAGTTGTAACAGGGAAAGGAAACACTAGGGCCTACAACGTACTAATGTCTTGGGTCATCTATGGGCTCATGAGGCTCTAGGTTATGGAAGTAAATACCACTGAAAAGCAAATATTAATTACACATGAGGCAAGCCTTTTTGAGTTCTGTATGTCATTTTGTAGATTTTGAGTTCATTCTAGTGGCACCATTTGAGATCATTTTCATGTAATTAAAGGAACACAGCAACCTGGCACTGTGTTATTGCCCTTAGAATGGAATGAATATATGTTTAGCACAAGGTAGGAAGTGATGCGTTAAGTTGGAAGGCTTTGCCGATCATGGTGTGTATGTTGACTAACCTTTATTGTGCCTTTAAAAAATATACTCAAGAACTACCTTAACCAAGTAATTAAAGTCAAGATTACCAGTTGTGGGACAAATGACATGTACTTCCTGGTGTGATATAGAAGGAAGGACACAGTATCACCTATATAGTATTCTTGACCAGAATATTTAACCTGATTTTAAACAAGAAGTAAAAATTCAAATAAATTTAGATTGTGGTGCATTCAAGGCCTGAACTTTAATAAATGTCCATGTCACGGCAGCAAAAAAGAAATCAACAGGTCTTAAAGAGACAGGGCAACCAAACGCAGTAGGCAGTAGTTGATTAGATCCCAATTTAGAGGTTGGAGTTGGGGAATAGCTATAGAGGACACTATTGGGGCGAATTGAGAAAGTTTAATATGAGACAATATGGTGTTAGTGTCAGATTTCTTGTGTGAAATGGTAGTGTTATGATTAGGAGAATGTCCTTGTTCTCAGGATA	T	G47470964T	MSH2	NM_000251.3(MSH2):c.1662-1_1759+1048del	noncoding	Pathogenic
2	47470962	CAGCAAATTGACTTCTTTAAATGAAGAGTATACCAAAAATAAAACAGAATATGAAGAAGCCCAGGATGCCATTGTTAAAGAAATTGTCAATATTTCTTCAGG	C	A47470963T	MSH2	NM_000251.3(MSH2):c.1662-2_1759+1del	noncoding	Pathogenic
2	47470975	TCTTTAAATGAAG	T	C47470976A	MSH2	NM_000251.3(MSH2):c.1673_1684del:p.Ser558_Glu562delinsTer	coding	Pathogenic
2	47470978	TTAAATG	T	T47470979A	MSH2	NM_000251.3(MSH2):c.1676_1681del:p.Leu559_Glu561delinsTer	coding	Pathogenic
2	47470979	TA	T	A47470982T	MSH2	NM_000251.3(MSH2):c.1679del:p.Asn560fs	coding	Pathogenic
2	47470982	A	AT	G47470984T	MSH2	NM_000251.3(MSH2):c.1680dup:p.Glu561Ter	coding	Pathogenic
2	47470983	TG	T	G47470984A	MSH2	NM_000251.3(MSH2):c.1681del:p.Glu561fs	coding	Pathogenic
2	47470984	G	GA	G47470987A	MSH2	NM_000251.3(MSH2):c.1683dup:p.Glu562fs	coding	Pathogenic
2	47470995	C	CA	T47471001A	MSH2	NM_000251.3(MSH2):c.1697dup:p.Asn566fs	coding	Pathogenic
2	47471000	AT	A	T47471001A	MSH2	NM_000251.3(MSH2):c.1698del:p.Asn566fs	coding	Pathogenic
2	47471008	GA	G	A47471010T	MSH2	NM_000251.3(MSH2):c.1707del:p.Glu569fs	coding	Pathogenic
2	47471009	AATATGAAGAAGCC	CATAA	A47471009C	MSH2	NM_000251.3(MSH2):c.1706_1719delinsCATAA:p.Glu569_Ala573delinsAlaTer	coding	Pathogenic
2	47471023	CA	C	A47471024G	MSH2	NM_000251.3(MSH2):c.1721del:p.Gln574fs	coding	Pathogenic
2	47471026	GA	G	A47471027T	MSH2	NM_000251.3(MSH2):c.1724del:p.Asp575fs	coding	Pathogenic
2	47471029	GC	G	C47471031A	MSH2	NM_000251.3(MSH2):c.1728del:p.Ile577fs	coding	Pathogenic
2	47471029	G	GCCATTGTTAAAGAAATTGT	A47471050C	MSH2	NM_000251.3(MSH2):c.1728_1746dup:p.Asn583delinsHisCysTer	coding	Pathogenic
2	47471037	TAAAG	T	G47471041T	MSH2	NM_000251.3(MSH2):c.1738_1741del:p.Glu580fs	coding	Pathogenic
2	47471037	TA	T	A47471040G	MSH2	NM_000251.3(MSH2):c.1737del:p.Glu580fs	coding	Pathogenic
2	47471037	T	TAAAGAAATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A47471050G	MSH2	NM_000251.3(MSH2):c.1746_1747insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAATTGTC:p.Val582_Asn583insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlyXaaXaaXaaXaaLysLysLysLysLysLysLysGluIleVal	coding	Pathogenic
2	47471037	T	TA	G47471041A	MSH2	NM_000251.3(MSH2):c.1737dup:p.Glu580fs	coding	Pathogenic
2	47471041	GA	G	A47471044T	MSH2	NM_000251.3(MSH2):c.1741del:p.Ile581fs	coding	Pathogenic/Likely_pathogenic
2	47471366	TGAGGCTCTAGGTTATGGAAGTAAATACCACTGAAAAGCAAATATTAATTACACATGAGGCAAGCCTTTTTGAGTTCTGTATGTCATTTTGTAGATTTTGAGTTCATTCTAGTGGCACCATTTGAGATCATTTTCATGTAATTAAAGGAACACAGCAACCTGGCACTGTGTTATTGCCCTTAGAATGGAATGAATATATGTTTAGCACAAGGTAGGAAGTGATGCGTTAAGTTGGAAGGCTTTGCCGATCATGGTGTGTATGTTGACTAACCTTTATTGTGCCTTTAAAAAATATACTCAAGAACTACCTTAACCAAGTAATTAAAGTCAAGATTACCAGTTGTGGGACAAATGACATGTACTTCCTGGTGTGATATAGAAGGAAGGACACAGTATCACCTATATAGTATTCTTGACCAGAATATTTAACCTGATTTTAAACAAGAAGTAAAAATTCAAATAAATTTAGATTGTGGTGCATTCAAGGCCTGAACTTTAATAAATGTCCATGTCACGGCAGCAAAAAAGAAATCAACAGGTCTTAAAGAGACAGGGCAACCAAACGCAGTAGGCAGTAGTTGATTAGATCCCAATTTAGAGGTTGGAGTTGGGGAATAGCTATAGAGGACACTATTGGGGCGAATTGAGAAAGTTTAATATGAGACAATATGGTGTTAGTGTCAGATTTCTTGTGTGAAATGGTAGTGTTATGATTAGGAGAATGTCCTTGTTCTCAGGATATGCATGCTAAATTATTTAAGGACAAATATTTTTTTAAAAGGTTATGTGCATGAGTAATTCTATAAATTGTGTTGCTATTATGAATTGTCATGGTAAATCAAAAGGAAACATAAAACTCAAAAGGTTTTATTTTAATACACTTTATGTATTGAAATGAATGGAATTGATTTGTAAAGATTACATTTTTGCTTGTTGGTGTCAGATAACTGTGACGTAATAATCTTTTGCTGAATTATGTTTCTTAGGCTAGATTTCATTTTAAAGAACCCTGTAAATACCATTTATTTGAACTGTGGATCTTCCTTAAAAAATAATATTTATTAAGCACCTAGCAGGGTAAAGTTTTTAGATTTTAACATTTAAATTGAAGGTTTTATATTAGAAGTCAACCTGAATTTAAATGAAACTTCTTCTTGGTCTGATATTACATATTATGAGCTATTTTTATTTAAAAATGTAATGGCGGCCAGACATGGTGATTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGCTGGGAGGATTGCTTAAGCCCAGAAGTTTGAGACCAGCCTAGCCAACATAGGGGGACCCCAACTCTACAAAAAAATCCAAAAAATATTAGCCGGCTGTGGTGGTACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTCGAGGGTGTGGTGAGCCATAATTATGCTACTGTACTTCAGCCTGGGCGACAGAGCAAGACTCCCATCTCAAAAAGTGTAATGGATCACTTTAATAATTTTCTATCATACAATTAAGTCATAAAAGGTCATGCTATTAAGAGCCAGTTATGTGACATGCCAAGTATAGACTCTTAATTAAGATGCTTTGGTTTGCTTTTTATTTATTTATTTATTTTTCAGATGGGGTCTTACCATGTTGCCCAGGCTTTAGTGCAGTGATGCGATCATGACTCACTGCAGCCTCAACCTCCTAGGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACATGTTGAAACCCTGTCTTTACTAAAAGTACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATACTGAAACAGAGGAAGATAATTAGGTCTGCTTGGCCATTGTTAAGTTGATTTTTATTTTCAAAACATTTGATCACTGTTGTGGGGAACAAGGGAATAAAAAATAAGTTAAATTTCCAGCCCCTAGATTAAACTAATAATTTTTGGTTTTCCTAGAATTAAATGCTTTTATCTTGAATGTTCTGTGAAGCTTTTGACATGATTGATAGCTGTATGATAGTCTGAATGACATGTGGGTCATGCACCAGCCCCTCCAACCTGTTAACATTTAGAATCTATTCAGAAAAATTTAAGCATTGTTAATTTCCTTTGTTTTTTGTCTAGCATGTGTCAGATTTTTTTAAATGTATTTATTAATAGCTTTTAATGTTAATACTCTAGAACAGTAGAATCTTGAAAATGTTTTAAGTGACAATTAGAGATTTAAATTTATGCTGACATCCTCTGCATGTGATACTGATGAGGAAAGAAAGCCAAACTGTCTTACGGTCAGTTCGTACAATATACCAGGCCTTGATGGTCACATTTCAACTTGCTACCTTTTTGCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGAAAGGATGTAGCAACACATTTTAACCCTATGTTGAGTTTTAGGTGGGTTCCTTTGAAATTTTGTTAAGGCTAACTTTTGTTAATTTTTTTAAAAAAGTGTAAATTAGGAAATGGGTTTTGAATTCCCAAATGGGGGGATTAAATGTATTTTTACGGCTTATATCTGTTTATTATTCAGTATTCCTGTGTACATTTTCTGTTTTTATTTTTATACAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTTGTGGGGGTAACGTTTTGTTTTTTTTTTTTTTTTTTTAATCTTGGAGTAGAAATATATTTAAAATTGATGGAGAAAATTCCCAGTTCTTAACATTAGAAAGGGAATATATTATTCTTACCAGTTAGTAATCTATTCACATTTGGTTTAGAGGGAAGATTTAGAAGGTGAGATAAAAGCTTGTGAGAGAATAGTGTATTCATGTGAAACTTCTTCCATGGGTTCAGAGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTA	T	G47471367A	MSH2	NM_000251.3(MSH2):c.1759+305_2006-34del	noncoding	Pathogenic
2	47475020	TACAGGCTATGTAGAACCAATGCAGAC	T	A47475023T	MSH2	NM_000251.3(MSH2):c.1760-2_1783del	noncoding	Pathogenic/Likely_pathogenic
2	47475021	ACAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTTGTGGGGGTAACGTTTTGTTTTTTTTTTTTTTTTTTTAATCTTGGAGTAGAAATATATTTAAAATTGATGGAGAAAATTCCCAGTTCTTAACATTAGAAAGGGAATATATTATTCTTACCAGTTAGTAATCTATTCACATTTGGTTTAGAGGGAAGATTTAGAAGGTGAGATAAAAGCTTGTGAGAGAATAGTGTATTCATGTGAAACTTCTTCCATGGGTTCAGAGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTG	A	C47475022A	MSH2	NM_000251.3(MSH2):c.1760-3_2005+453del	noncoding	Pathogenic
2	47475021	ACAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTTGTGGGGGTAACGTTTTGTTTTTTTTTTTTTTTTTTTAATCTTGGAGTAGAAATATATTTAAAATTGATGGAGAAAATTCCCAGTTCTTAACATTAGAAAGGGAATATATTATTCTTACCAGTTAGTAATCTATTCACATTTGGTTTAGAGGGAAGATTTAGAAGGTGAGATAAAAGCTTGTGAGAGAATAGTGTATTCATGTGAAACTTCTTCCATGGGTTCAGAGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGG	A	C47475022A	MSH2	NM_000251.3(MSH2):c.1760-3_2006-300del	noncoding	Pathogenic
2	47475024	G	GGCTAT	T47475031C	MSH2	NM_000251.3(MSH2):c.1761_1765dup:p.Val589fs	noncoding	Pathogenic
2	47475036	CCAATGCAGACACT	C	C47475042A	MSH2	NM_000251.3(MSH2):c.1777_1789del:p.Gln593fs	coding	Pathogenic
2	47475037	C	CA	T47475040A	MSH2	NM_000251.3(MSH2):c.1774dup:p.Met592fs	coding	Pathogenic
2	47475049	TCAA	T	C47475050T	MSH2	NM_000251.3(MSH2):c.1785_1787del:p.Asn596del	coding	Pathogenic
2	47475050	CAAT	ATGCAGGCTATGTAGACAATGCA	C47475050A	MSH2	NM_000251.3(MSH2):c.1785_1788delinsATGCAGGCTATGTAGACAATGCA:p.Asn596fs	coding	Pathogenic
2	47475061	TAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGAC	T	G47475063A	MSH2	NM_000251.3(MSH2):c.1798_1886del:p.Ala600fs	coding	Pathogenic
2	47475066	C	CAGCT	A47475073C	MSH2	NM_000251.3(MSH2):c.1804_1807dup:p.Asp603fs	coding	Pathogenic
2	47475072	GA	G	A47475073T	MSH2	NM_000251.3(MSH2):c.1808del:p.Asp603fs	coding	Pathogenic
2	47475075	GC	ACTGTTGTCAGCT	G47475075A	MSH2	NM_000251.3(MSH2):c.1810_1811delinsACTGTTGTCAGCT:p.Ala604fs	coding	Pathogenic
2	47475085	GC	G	C47475086T	MSH2	NM_000251.3(MSH2):c.1821del:p.Phe608fs	coding	Pathogenic
2	47475092	TCACGTGTCAAATGGAG	T	G47475096C	MSH2	NM_000251.3(MSH2):c.1831_1846del:p.Val611fs	coding	Pathogenic
2	47475092	TC	T	C47475093A	MSH2	NM_000251.3(MSH2):c.1828del:p.His610fs	coding	Pathogenic
2	47475094	ACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAG	GA	A47475094G	MSH2	NM_000251.3(MSH2):c.1829_1867delinsGA:p.His610fs	coding	Pathogenic
2	47475095	CGTGTCAAA	C	G47475096T	MSH2	NM_000251.3(MSH2):c.1831_1838del:p.Val611fs	coding	Pathogenic
2	47475096	G	GT	G47475098T	MSH2	NM_000251.3(MSH2):c.1832dup:p.Ser612fs	coding	Pathogenic
2	47475096	GT	G	T47475097G	MSH2	NM_000251.3(MSH2):c.1832del:p.Val611fs	coding	Pathogenic
2	47475102	A	AATGGAGC	C47475111T	MSH2	NM_000251.3(MSH2):c.1839_1845dup:p.Pro616fs	coding	Pathogenic
2	47475103	A	ATGGAGCAC	C47475112T	MSH2	NM_000251.3(MSH2):c.1839_1846dup:p.Pro616fs	coding	Pathogenic
2	47475105	GG	A	G47475105A	MSH2	NM_000251.3(MSH2):c.1840_1841delinsA:p.Gly614fs	coding	Pathogenic
2	47475121	A	AG	T47475122G	MSH2	NM_000251.3(MSH2):c.1856_1857insG:p.Tyr619Ter	coding	Pathogenic
2	47475128	AC	A	C47475130A	MSH2	NM_000251.3(MSH2):c.1865del:p.Pro622fs	coding	Pathogenic
2	47475132	GCCATTTT	G	C47475133G	MSH2	NM_000251.3(MSH2):c.1868_1874del:p.Ala623fs	coding	Pathogenic
2	47475132	GC	G	C47475134A	MSH2	NM_000251.3(MSH2):c.1869del:p.Ile624fs	coding	Pathogenic
2	47475135	AT	A	T47475139G	MSH2	NM_000251.3(MSH2):c.1874del:p.Leu625fs	coding	Pathogenic
2	47475139	T	TG	A47475142G	MSH2	NM_000251.3(MSH2):c.1876dup:p.Glu626fs	coding	Pathogenic
2	47475143	GA	G	A47475146G	MSH2	NM_000251.3(MSH2):c.1881del:p.Gly628fs	coding	Pathogenic
2	47475143	G	GA	G47475147A	MSH2	NM_000251.3(MSH2):c.1881dup:p.Gly628fs	coding	Pathogenic
2	47475152	AG	A	G47475154A	MSH2	NM_000251.3(MSH2):c.1889del:p.Gly630fs	coding	Pathogenic
2	47475155	AAGAATTATATT	A	G47475157A	MSH2	NM_000251.3(MSH2):c.1892_1902del:p.Arg631fs	coding	Pathogenic
2	47475157	GAATTATATTAAAAGCATCCAGGC	G	A47475159T	MSH2	NM_000251.3(MSH2):c.1894_1916del:p.Ile632fs	coding	Pathogenic
2	47475157	G	GAATTATA	T47475165A	MSH2	NM_000251.3(MSH2):c.1893_1899dup:p.Leu634fs	coding	Pathogenic
2	47475161	TATATTAAAAG	T	A47475162C	MSH2	NM_000251.3(MSH2):c.1897_1906del:p.Ile633fs	coding	Pathogenic
2	47475166	TA	T	A47475170G	MSH2	NM_000251.3(MSH2):c.1905del:p.Ala636fs	coding	Pathogenic
2	47475171	GC	G	C47475172A	MSH2	NM_000251.3(MSH2):c.1907del:p.Ala636fs	coding	Pathogenic
2	47475178	G	GGCAT	T47475185A	MSH2	NM_000251.3(MSH2):c.1916_1919dup:p.Val642fs	coding	Pathogenic
2	47475181	ATGCTTGTGTTG	T	A47475181T	MSH2	NM_000251.3(MSH2):c.1916_1927delinsT:p.His639fs	coding	Pathogenic
2	47475184	CTTGTG	C	T47475188A	MSH2	NM_000251.3(MSH2):c.1923_1927del:p.Cys641_Glu643delinsTer	coding	Pathogenic
2	47475192	GAA	G	A47475193G	MSH2	NM_000251.3(MSH2):c.1928_1929del:p.Glu643fs	coding	Pathogenic
2	47475198	CAAGATGAAATT	C	A47475199G	MSH2	NM_000251.3(MSH2):c.1934_1944del:p.Gln645fs	coding	Pathogenic
2	47475221	TA	T	A47475223T	MSH2	NM_000251.3(MSH2):c.1958del:p.Asn653fs	coding	Pathogenic
2	47475224	T	TG	A47475226G	MSH2	NM_000251.3(MSH2):c.1960dup:p.Asp654fs	coding	Pathogenic
2	47475236	TGAAAAAGATAA	T	G47475237A	MSH2	NM_000251.3(MSH2):c.1972_1982del:p.Glu658fs	coding	Pathogenic
2	47475237	GA	G	A47475242G	MSH2	NM_000251.3(MSH2):c.1977del:p.Asp660fs	coding	Pathogenic
2	47475237	G	GA	G47475243A	MSH2	NM_000251.3(MSH2):c.1977dup:p.Asp660fs	coding	Pathogenic
2	47475237	G	GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNAGCGCCGCCGCGCCAACCACCAGCCGCGGCCACCATGGCCAGACGGGCTCCCTAAGCCACCGACCCCAGCCCGCGGCGCCTTCGACCCTTCTC	A47475238T	MSH2	NM_000251.3(MSH2):c.1972_1973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNAGCGCCGCCGCGCCAACCACCAGCCGCGGCCACCATGGCCAGACGGGCTCCCTAAGCCACCGACCCCAGCCCGCGGCGCCTTCGACCCTTCTC:p.Glu658fs	coding	Pathogenic
2	47475245	TA	T	A47475248C	MSH2	NM_000251.3(MSH2):c.1983del:p.Lys661fs	coding	Pathogenic
2	47475245	T	TA	C47475249A	MSH2	NM_000251.3(MSH2):c.1983dup:p.Gln662fs	coding	Pathogenic
2	47475253	TG	T	G47475254T	MSH2	NM_000251.3(MSH2):c.1989del:p.Met663fs	coding	Pathogenic/Likely_pathogenic
2	47475260	CATCATTACTGGTA	C	T47475262A	MSH2	NM_000251.3(MSH2):c.1997_2005+4del	coding	Pathogenic
2	47475261	AT	A	T47475262C	MSH2	NM_000251.3(MSH2):c.1997del:p.Ile666fs	coding	Pathogenic
2	47475262	T	TCA	T47475265C	MSH2	NM_000251.3(MSH2):c.1998_1999dup:p.Ile667fs	coding	Pathogenic
2	47475267	A	AC	T47475269C	MSH2	NM_000251.3(MSH2):c.2003dup:p.Gly669fs	coding	Pathogenic
2	47475283	GT	G	T47475288G	MSH2	NM_000251.3(MSH2):c.2005+18del	noncoding	Benign
2	47475312	GT	G	T47475331A	MSH2	NM_000251.3(MSH2):c.2005+61del	noncoding	Benign
2	47475312	GTT	G	T47475330A	MSH2	NM_000251.3(MSH2):c.2005+60_2005+61del	noncoding	Benign
2	47475320	T	TG	T47475321G	MSH2	NM_000251.3(MSH2):c.2005+50_2005+51insG	noncoding	Benign
2	47476364	TAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGG	T	A47476365T	MSH2	NM_000251.3(MSH2):c.2006-2_2210+1del	noncoding	Pathogenic
2	47476365	AG	A	G47476367C	MSH2	NM_000251.1(MSH2):c.2006-1delG	noncoding	Pathogenic
2	47476400	GA	G	A47476401C	MSH2	NM_000251.3(MSH2):c.2040del:p.Gln681fs	coding	Pathogenic
2	47476407	TGG	T	G47476410T	MSH2	NM_000251.3(MSH2):c.2049_2050del:p.Val684fs	coding	Pathogenic
2	47476407	TG	T	G47476411T	MSH2	NM_000251.3(MSH2):c.2050del:p.Gly683_Val684insTer	coding	Pathogenic
2	47476434	T	TG	T47476438G	MSH2	NM_000251.3(MSH2):c.2076dup:p.Cys693fs	coding	Pathogenic
2	47476438	TG	T	G47476439T	MSH2	NM_000251.3(MSH2):c.2078del:p.Cys693fs	coding	Pathogenic
2	47476441	TT	G	T47476441G	MSH2	NM_000251.3(MSH2):c.2080_2081delinsG:p.Phe694fs	coding	Pathogenic
2	47476442	TTG	T	T47476445C	MSH2	NM_000251.3(MSH2):c.2084_2085del:p.Val695fs	coding	Pathogenic
2	47476449	ATG	A	T47476452A	MSH2	NM_000251.3(MSH2):c.2091_2092del:p.Cys697_Glu698delinsTer	coding	Pathogenic
2	47476481	GCATCT	G	C47476482T	MSH2	NM_000251.3(MSH2):c.2121_2125del:p.Ile708fs	coding	Pathogenic
2	47476501	GC	G	C47476502T	MSH2	NM_000251.3(MSH2):c.2141del:p.Ala714fs	coding	Pathogenic
2	47476507	GAC	G	C47476509G	MSH2	NM_000251.3(MSH2):c.2148_2149del:p.Asp716fs	coding	Pathogenic
2	47476507	G	GAC	G47476511C	MSH2	NM_000251.3(MSH2):c.2148_2149dup:p.Ser717fs	coding	Pathogenic
2	47476525	GTC	G	T47476528C	MSH2	NM_000251.3(MSH2):c.2167_2168del:p.Ser723fs	coding	Pathogenic
2	47476529	C	CCACGTTCATGGCTGAAATGT	T47476550C	MSH2	NM_000251.3(MSH2):c.2169_2188dup:p.Leu730fs	coding	Pathogenic
2	47476535	TC	T	C47476536A	MSH2	NM_000251.3(MSH2):c.2175del:p.Phe725fs	coding	Pathogenic
2	47476536	CATGGCTGAAA	G	C47476536G	MSH2	NM_000251.3(MSH2):c.2175_2185delinsG:p.Phe725fs	coding	Pathogenic
2	47476543	GA	G	A47476546T	MSH2	NM_000251.3(MSH2):c.2185del:p.Met729fs	coding	Pathogenic
2	47476561	T	TCTATC	C47476569A	MSH2	NM_000251.3(MSH2):c.2203_2207dup:p.Arg737fs	coding	Pathogenic
2	47476681	TAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATTTTTAAAATTGTCTCTTTAAGTAGACAATTTATAAGCTACTGGTACGAGTTCACCTTATAAATCTCCACTACCATGTTTTTGCTTGGACTGTTCACACTTCCTGGAATGGTCCTTCTTGCCGTTTATCCAACTTCTTTCTAATTTTTAAGTCCCTAATGATGGGAATTCTATTTCTGTAGTGATTTTTCTGGTCATACGACCGTAAGGTCATGGGTGTTTTTCTCTGAATTCCTCTTGAGATGCCTGTAACTTGAACCACGTTTTTATTCTAGACATTACTGAAATGTTTTGTCTTTATTTCACTTTTTAGGAGCTTCCTTGAAGGTAGGGACTATACCTTCTATTTCTTGGTATCTTTTTCTTTCTTTTTTTAAAAGTTTTTTAGAGAGACAGGGTCTCACTCTTTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAGGTGATCTTCCTGCCTTGGCTTCCCAGAGTGCTGGGATTACAGGCATGAACCACCGTGATCCTCCTTATTTCTTAGTATCTTCTAAAGAACATTAAATATAGTAGGTGCCTAGTAAATTATGTATTGATTTAACTTCTTTGAGGTTCTGTTGTTTGTGAAGAATTATAAAAGCAATACAAATGTTTGTATAGTAATTAAGCAACAGGTTAATATTCATGACTTAAAAGATTAAAGAAATAAGCAAAACATGTTAGCTGGCAACTCACAGAAAAAGAATTAAATTGCCAATGAGCACACGAGCACATGAAAAATTAGCAAAAGTTTCACCCCTTTACATATATTTGGTTAAAATTGAGAAAAGAATAGTAATAGATGGTATTGGTAGGACTGTGGCAGGCACACAATTTACATGACCACCAAAAGTGTATGCAGGTATCCATGTCACCACACCCTGGTCTCATCTTCATTCAGTTTTATTTATTTTTTTTAATCTCGGCCTATTTGATTGGCACGAAATGAATGATAGCTGCCTTATTTGGAATTCCTTTGATTACTACTAGTGTGCTTGATAATGTAAAACAATATTCAAAATCTGTTTTTCCTTTCATCCGTTGTTTGTTCATGTTCATGACCTTTTTTTTTTTTTCCTATTCTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCACACAAAGGTGTGTGCTACCATACCTGGCTAGTTTTTAATTTTTTTTTTTTTTTTTTTTTTTAGAGGCAAGGTCTCACTATGTTGCTCAGGCTGGTCTGGGCTCAAGTGATCCTCCCACCTCCGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCATCATGCCTGGCCCTTGCCCATTTTTCTATTGAAGTTTTAGTGCTTTTTATTGACTTTGTTTATATATTAAGATAATCCATTATGTTTGTGGCATATCCTTCCCAATGTATTGTCTTAATTTTGTTTTTGTATGTGTATGTTACCACATTTTATGTGATGGGAAATTTCATGTAATTATGTGCTTCAGGTCTGCAACCAAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATTGGTGCTTTTTGCATGTTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCAGATACCAACTGTTAATAATCTACATGTCACAGCACTCACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAGGTATGTACTATTGGAGTACTCTAAATTCAGAACTTGGTAATGGGAAACTTACTACCCTTGAAATCATCAGTAATTGCCTTATTCTAAGTTAGTATAAATTATTGATGTTGTTATAGAACCCATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCTGTTATTGTTTAACAAAATCTTCATTATAATTAGCTTATTTTGTGTTTAAGAGTGTGTTATAGAAACAGGTTCATTTAAAGCTGGGGGTTCCAGAAATCTTGAAATAGTAGTTATCACATGCAGAGTGACTTATCTGTTGTTGTTTCATCCTTTCAGGAAAGTTTGTCATTCGTGGGCTTGGGATCTAGTCAGATCCCTGTATTGATGAGATTCACATGTTATAAGGCTTTCAAAGGTTTTAAAAATCATACTATAAGGATTGATTTCACTAGTCACCAGAATAACTTTTTCAGATAGCGCTCTGATTTTCCACGAACACGTTTTTCTGCATCAGTTGGTTGCACATGAGTGAGATAATCTTGGTTCTTTATCCTTTGTTATTTGTACTTCATTGGGAATCCTTTTGAGTTAGTATATTTGAGTCATTATTATTATTGCTGTAGAATTCAGGAACTTTTAGTAGATCTGGCAGCATAAAATTTTGCTTTTAAATCATTGTTTGTGTTTTGTATGCTATAGAAATGGGTTCAGAATATTTTTTAAAAGGCCAGATGAAGTGTGAAGATAGAAAAACTTCATCCTTCACTGTGAATGTTTAACAAACATTTGCTTCTACTTTATTTTTGTTTGCTTCCTTTAGTTGTGCAAAGTATTCAGTTCTAGAATGCATGAGATATATGACAAAGCCAAAAAATTCTTTATAGTTGATAAATAATTGTGGCAAAAACAGCTGTATAGTAACTTTGCAAGCATCATTTGATTAAATGCTTAAAAAGTCTTGACTCAGTTTTAACTATTTCCTGCAAATAATCAATATTTAATTAAAGCTACTCCAAATTAGTGACACTTTACGTGTCTGTCTTTCTCCCTCCCCTTCTCCCTTCTCCCTTCCCCCTTCTCCCATTCTCCCATTCTCCCTTCTCTCTTCTTCCTTTCCTCTTCCCTTCCCTTCCCCTTTCCCTTCCCCCTTCCCTCTTCTCTTCCCCTCCCCCTTCCCATCCCCCATCCCTTCCCTTCCCCCATCCCTTTCCTTTCCCCTTCCCTTCCCTCCTCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTTCCTCTTCCCTTTCCCCTTCCCTTCCCCCTTCCCTTCCCTCTTCCCTTCCCCTTCCCCTTTCCCCTCCCCCTCTCCTCCCCTCCCTTACCTTCCCATGAAATGAGAAAGCCTCAGAGATAGTGGCTTGATTAATTTTTCTTTAGATTAAGATATTTGTCTAAGCCTTTAAGGTTTATCTATTGAGCTTTTTTGTCTCCTATTTTTATTTTTCCTACTATGTTTGTCGAGGATAAAATACAGCACTGTGTGCCAAGTCATAATCACTTTTCATTTGAGACTTAATTAAAATGCCTTTATTTTAATGATATATTTGGCTAATGTATTTGAAGTAATCCGAAATTAAGTTTTCTAATGACAAGGTGAGAAGGATAAATTCCATTTACATAAATTGCTGTCTCTTCTCATGCTGTCCCCTCACGCTTCCCCAAATTTCTTATAGGTGTCTGTGATCAAAGTTTTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGG	T	A47476687C	MSH2	NM_000251.3(MSH2):c.2210+116_2562del	noncoding	Pathogenic
2	47478282	AAAGATTCATTAAT	A	G47478285T	MSH2	NM_000251.3(MSH2):c.2224_2236del:p.Asp742fs	coding	Pathogenic
2	47478286	A	AT	C47478289T	MSH2	NM_000251.3(MSH2):c.2227dup:p.Ser743fs	coding	Pathogenic
2	47478286	AT	A	T47478288C	MSH2	NM_000251.3(MSH2):c.2227del:p.Ser743fs	coding	Pathogenic
2	47478291	TTAATAATCATAGATGAATTGGG	T	T47478292A	MSH2	NM_000251.3(MSH2):c.2231_2252del:p.Ser743_Leu744insTer	coding	Pathogenic
2	47478297	A	AT	C47478299T	MSH2	NM_000251.3(MSH2):c.2237dup:p.Ile747fs	coding	Pathogenic
2	47478308	ATTGGGAAGAGGAACTTCTACCTACGATGGAT	A	A47478314T	MSH2	NM_000251.3(MSH2):c.2253_2283del:p.Gly751_Arg752insTer	coding	Pathogenic
2	47478310	TG	T	G47478313A	MSH2	NM_000251.3(MSH2):c.2252del:p.Gly751fs	coding	Pathogenic
2	47478316	G	GCC	A47478317C	MSH2	NM_000251.3(MSH2):c.2255_2256insCC:p.Arg752fs	coding	Pathogenic
2	47478317	AG	A	G47478319A	MSH2	NM_000251.3(MSH2):c.2258del:p.Gly753fs	coding	Pathogenic
2	47478323	TTC	T	C47478325A	MSH2	NM_000251.3(MSH2):c.2264_2265del:p.Ser755fs	coding	Pathogenic
2	47478324	TCTACCTA	T	T47478326G	MSH2	NM_000251.3(MSH2):c.2265_2271del:p.Thr756fs	coding	Pathogenic
2	47478324	TC	T	C47478325T	MSH2	NM_000251.3(MSH2):c.2264del:p.Ser755fs	coding	Pathogenic
2	47478330	T	TA	C47478332A	MSH2	NM_000251.3(MSH2):c.2270dup:p.Tyr757Ter	coding	Pathogenic
2	47478333	GAT	AG	G47478333A	MSH2	NM_000251.3(MSH2):c.2272_2274delinsAG:p.Asp758fs	coding	Pathogenic
2	47478338	AT	A	T47478341G	MSH2	NM_000251.3(MSH2):c.2280del:p.Phe760fs	coding	Pathogenic
2	47478348	GC	G	C47478349A	MSH2	NM_000251.3(MSH2):c.2288del:p.Ala763fs	coding	Pathogenic
2	47478366	T	TA	C47478368A	MSH2	NM_000251.3(MSH2):c.2306dup:p.Tyr769Ter	coding	Pathogenic
2	47478371	TG	T	G47478372C	MSH2	NM_000251.3(MSH2):c.2311del:p.Ala771fs	coding	Pathogenic
2	47478377	AAAGATTGGTGCTTTTTG	A	A47478378C	MSH2	NM_000251.3(MSH2):c.2317_2333del:p.Lys773fs	coding	Pathogenic
2	47478378	AAGATTGGTGCTTTTTGCATGTTT	A	A47478379G	MSH2	NM_000251.3(MSH2):c.2318_2340del:p.Lys773fs	coding	Pathogenic
2	47478385	G	GT	G47478387T	MSH2	NM_000251.3(MSH2):c.2325dup:p.Ala776fs	coding	Pathogenic
2	47478393	T	TG	C47478395G	MSH2	NM_000251.3(MSH2):c.2333dup:p.Cys778fs	coding	Pathogenic
2	47478398	G	GTT	G47478402T	MSH2	NM_000251.3(MSH2):c.2339_2340dup:p.Ala781fs	coding	Pathogenic
2	47478402	GC	G	C47478403A	MSH2	NM_000251.3(MSH2):c.2342del:p.Ala781fs	coding	Pathogenic
2	47478405	ACCCATTTT	A	C47478407A	MSH2	NM_000251.3(MSH2):c.2346_2353del:p.Thr782_His783insTer	coding	Pathogenic
2	47478417	GA	G	A47478419C	MSH2	NM_000251.3(MSH2):c.2358del:p.Glu786fs	coding	Pathogenic
2	47478420	CT	C	T47478422A	MSH2	NM_000251.3(MSH2):c.2361del:p.Thr788fs	coding	Pathogenic
2	47478423	AC	A	C47478424T	MSH2	NM_000251.3(MSH2):c.2363del:p.Thr788fs	coding	Pathogenic
2	47478426	GC	G	C47478428T	MSH2	NM_000251.3(MSH2):c.2367del:p.Leu790fs	coding	Pathogenic/Likely_pathogenic
2	47478426	GC	T	G47478426T	MSH2	NM_000251.3(MSH2):c.2365_2366delinsT:p.Ala789fs	coding	Pathogenic
2	47478433	CCAAT	C	A47478436G	MSH2	NM_000251.3(MSH2):c.2375_2378del:p.Asn792fs	coding	Pathogenic
2	47478441	A	AT	A47478443T	MSH2	NM_000251.3(MSH2):c.2381dup:p.Pro795fs	coding	Pathogenic
2	47478445	CAACTGTTAATA	C	A47478447T	MSH2	NM_000251.3(MSH2):c.2386_2396del:p.Thr796fs	coding	Pathogenic
2	47478452	TA	T	A47478454T	MSH2	NM_000251.3(MSH2):c.2393del:p.Asn798fs	coding	Pathogenic
2	47478453	AATAA	G	A47478453G	MSH2	NM_000251.3(MSH2):c.2392_2396delinsG:p.Asn798fs	coding	Pathogenic
2	47478455	T	TA	T47478458A	MSH2	NM_000251.3(MSH2):c.2396dup:p.Asn799fs	coding	Pathogenic
2	47478456	AAT	A	A47478457C	MSH2	NM_000251.3(MSH2):c.2396_2397del:p.Asn799fs	coding	Pathogenic
2	47478459	CT	C	T47478460A	MSH2	NM_000251.3(MSH2):c.2399del:p.Leu800fs	coding	Pathogenic
2	47478462	CA	C	A47478463T	MSH2	NM_000251.3(MSH2):c.2402del:p.His801fs	coding	Pathogenic
2	47478467	C	CA	C47478469A	MSH2	NM_000251.3(MSH2):c.2407dup:p.Thr803fs	coding	Pathogenic
2	47478476	C	CA	C47478478A	MSH2	NM_000251.3(MSH2):c.2416dup:p.Thr806fs	coding	Pathogenic
2	47478480	AC	A	C47478481T	MSH2	NM_000251.3(MSH2):c.2420del:p.Thr807fs	coding	Pathogenic
2	47478484	AAG	A	G47478488C	MSH2	NM_000251.3(MSH2):c.2427_2428del:p.Glu809fs	coding	Pathogenic
2	47478491	CT	C	T47478493A	MSH2	NM_000251.3(MSH2):c.2432del:p.Thr810_Leu811insTer	coding	Pathogenic
2	47478493	TA	T	A47478495C	MSH2	NM_000251.3(MSH2):c.2434del:p.Thr812fs	coding	Pathogenic
2	47478496	C	CTA	G47478500A	MSH2	NM_000251.3(MSH2):c.2437_2438dup:p.Met813fs	coding	Pathogenic
2	47478501	CT	C	T47478504A	MSH2	NM_000251.3(MSH2):c.2443del:p.Tyr815fs	coding	Pathogenic
2	47478504	TA	T	A47478505T	MSH2	NM_000251.3(MSH2):c.2444del:p.Tyr815fs	coding	Pathogenic
2	47478504	TAT	AA	T47478504A	MSH2	NM_000251.3(MSH2):c.2443_2445delinsAA:p.Tyr815fs	coding	Pathogenic
2	47480697	TGT	A	T47480697A	MSH2	NM_000251.3(MSH2):c.2460_2462delinsA:p.Val821fs	coding	Pathogenic
2	47480711	GT	G	T47480715G	MSH2	NM_000251.3(MSH2):c.2478del:p.Phe826fs	coding	Pathogenic
2	47480724	TG	T	G47480725T	MSH2	NM_000251.3(MSH2):c.2488del:p.Val830fs	coding	Pathogenic
2	47480725	GT	G	T47480727G	MSH2	NM_000251.3(MSH2):c.2490del:p.Ala831fs	coding	Pathogenic
2	47480727	TG	T	G47480728C	MSH2	NM_000251.3(MSH2):c.2491del:p.Ala831fs	coding	Pathogenic
2	47480728	G	GCA	G47480731C	MSH2	NM_000251.3(MSH2):c.2492_2493dup:p.Glu832fs	coding	Pathogenic
2	47480740	AAT	A	A47480741T	MSH2	NM_000251.3(MSH2):c.2504_2505del:p.Asn835fs	coding	Pathogenic
2	47480756	TAA	T	A47480757T	MSH2	NM_000251.3(MSH2):c.2520_2521del:p.Ile841fs	coding	Pathogenic
2	47480757	AAT	A	T47480759G	MSH2	NM_000251.3(MSH2):c.2522_2523del:p.Ile841fs	coding	Pathogenic
2	47480758	A	ATAGAG	G47480765A	MSH2	NM_000251.3(MSH2):c.2523_2527dup:p.Cys843Ter	coding	Pathogenic
2	47480758	AT	A	T47480759A	MSH2	NM_000251.3(MSH2):c.2522del:p.Ile841fs	coding	Pathogenic
2	47480759	T	TAG	T47480764A	MSH2	NM_000251.3(MSH2):c.2525_2526dup:p.Cys843fs	coding	Pathogenic
2	47480769	TAAAC	T	A47480771G	MSH2	NM_000251.3(MSH2):c.2534_2537del:p.Lys845fs	coding	Pathogenic
2	47480769	TA	CT	T47480769C	MSH2	NM_000251.3(MSH2):c.2532_2533delinsCT:p.Lys845Ter	coding	Pathogenic
2	47480773	CAGAA	C	A47480776C	MSH2	NM_000251.3(MSH2):c.2539_2542del:p.Lys847fs	coding	Pathogenic
2	47480775	GAA	G	A47480777G	MSH2	NM_000251.3(MSH2):c.2540_2541del:p.Lys847fs	coding	Pathogenic
2	47480779	GCCCTGGAA	G	C47480781T	MSH2	NM_000251.3(MSH2):c.2544_2551del:p.Ala848_Leu849insTer	coding	Pathogenic
2	47480799	TC	T	C47480800A	MSH2	NM_000251.3(MSH2):c.2563del:p.Gln855fs	coding	Pathogenic
2	47480821	GGATAT	G	G47480827C	MSH2	NM_000251.3(MSH2):c.2590_2594del:p.Asp864fs	coding	Pathogenic
2	47480827	GAT	G	A47480830C	MSH2	NM_000251.3(MSH2):c.2593_2594del:p.Ile865fs	coding	Pathogenic
2	47480833	A	AT	G47480835T	MSH2	NM_000251.3(MSH2):c.2597dup:p.Met866fs	coding	Pathogenic
2	47482657	T	TA	T47482668A	MSH2	NM_000251.3(MSH2):c.2635-112dup	noncoding	Benign
2	47482775	TCAGCAAGGTGAAAAAATTATTCAGGAGTTCCTGTCCAAGGTGAAACAAATGCCCTTTACTGAAATGTCAGAAGAAAACATCACAATAAAGTTAAAACAGCTAAAAGCTGAAGTAATAGCAAAGAATAATAGCTTTGTAAATGAAATCATTTCACGAATAAAAGTTACTACGTGA	T	C47482776A	MSH2	NM_000251.3(MSH2):c.2635-3_2805del	noncoding	Pathogenic
2	47482784	TG	T	G47482785A	MSH2	NM_000251.3(MSH2):c.2641del:p.Glu881fs	coding	Pathogenic
2	47482807	TG	T	G47482808T	MSH2	NM_000251.3(MSH2):c.2664del:p.Ser889fs	coding	Pathogenic
2	47482823	A	AAT	G47482826A	MSH2	NM_000251.3(MSH2):c.2680_2681dup:p.Met894fs	coding	Pathogenic
2	47783229	TCGGTATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTC	T	T47783233C	MSH6	NM_000179.3(MSH6):c.-1_46del:p.Met1fs	noncoding	Pathogenic
2	47783231	GGTATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGCCAACAAGGCCTCGGCCAGGGCCTCACGCGAAGGCGGCCGTGCCGCCGCTGCCCCCGGGGCCTCTCCTTCCCCAGGCGGGGATGCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCTTGGCGCGCTCCGCGTCACCGCCCAAGGCGAAGAACCTCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACCAGGTAGCGGGGTGGGGGTGGGGTCGAAGGCGGGGGCATAGCGGCGGGGCGCTTGGAACCCGGCGAGGGGAGGCTCGCACAGGGGGTTGGGGGGGTGCACGGCCTGGCCCTGGGCTCGGAGGAGGCGGGGCCGCAGAGTTGGCTTGAATGAGTGCAGGGGTCGAGTCTGGAGCATTTGGGGGTGTAGCTTGTAAACAGGGTCGGAGGAGAGAGGCTGTGCAGGAAGAGGGCTGCAGGGGAGACGCGGAGAGTTCGGGCCTTTTGGAGGGAGGAGACGCGTCCCGCCAGGTGGGGGTGCTGGGCTAAGGAAGGGGCGACGCGCGCAGCTCCGGGTGGGGAGGGGGCCTGGGAGGTGGGAGCACTGGGGGTGGGGCGAGAAGGGGAAGGCGCCCGGCCCACTTGGTGGGCGGGGCGGGGGGCGGGGTGGCGGGAAGGAGGAATGCCTGCGGGAGGCCGAACGGGGAGAGTCCGGTGGTGTGGGGTGCGAAAGGAGGTTCCTCGGCCGGCGCGGAGATAGTGAGTTGGGGCTCCAGTAGTCGATCGAGGTAGACACTTAGAGGTAGTTAAGAGCCGCGGTCGCCGAGACGCCTTGGGGACGGTGGGCCTTCGGCCTAGGTGAGGGGCCGCCGAGGGGGTGGGCCACGAGCTGCGAGCGCGGGGGGGTGTGTCACCATGGGGACCGCGGGGCCTAATTGGGCGGGGCGGGGCCGTGGGGAGCCGAAGTGCTGGGATCCGGCTGGGTCCTTCGGTAGGTAGGCTGCACGTGCACCGAGACGAAGATAGAATATTTTGACGTATGTGGAAATTCGTGTCGAGTGGAAAATATTTTATTTTATGAAATAGTGTAATTTTTATGGGGCACCACTGGGCTTTTAGAGGCCTTAATCGGGCGCTGGACAAAGATGTGTGGACGTGAGTGACTCCGGGGAAGCCTGTCGGGAGTTGTCCTCACTTTATGGGCAGTTAAGTGCTTTTTTTTTTTTTTCCTTTTTGAGAGAGAGTTTCGCTCAAGTCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCGTCCCGGCTTCAAGCGATTCCCCAGCTTCAGCCTCCCGAGTAGTCGGGATTACAGGAATGCGCCCCCACACCCCGCCAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCGGAATTCCCGACCTCAGGTGATCCACCCGCCTCGGCCTCAAAGTGCTGGGATTACAGGCGCTAGCCACCGCGCCCGGTCTGTTTAGGGCTTTTTATCCGGGCAGCTGGCGACATTTTGAAAAGCTTGCTTTTGCTGTTTGCCAGATACATATATATGTATTTTGAGACAGAGTCTTGCTCTTTTGTCCAGGCTAGAGTGCAGTGGCGCGTTCTTGGCTCACCACAACCTCTGTCTCTGGATCAAGAGATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCCCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCTTGATCGGCCCGCATTGGCCTACCAAAGTGCTGGGATTACAGGCATGAACCACCGAGCCCGGCCGTTTGTCAGATACTAAACACAAAGTTTAATGGTCGCTATTTGAACAAACGAAGAAATAAAGGCTCAGAAAAAATAACTCATTCAAGATAAGAGCCAGTTCGTGTTTTTTGTTTGGTTTTGTTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTTTCTCGGCTCACTGCAACCTCTGCCCGCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACGGGTGTGCCCACCGCGGTCCGGCTGATTTTTCACCATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAAACTGCTGACCTCAAGTGGTCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCGCTAGTTAGTGGTTTTGAGTAATGGATTTCAAATCCATTTAAATCCAGTTTAAAGTGTCCTAAAGGAATTCTGAGATTTTTCTAAGTGTAATTATAGTGTTACCCTTGTTTAAGCGACCCTTTCCCGCAGTTTAAATATATATAGTTGTGCATTAGTAGAATATGCTTGTGGGGAACAGAGCCAGCATCCGCAATAACAAACTCCTGGTTAGAAAAGCATGACGTATTGTTTACTTGAGCATGAATTGATTGTTGAATCCAAACCAAACGGGTGTATTTATTGTAAGGATGTACTTTACATTCATATTGAATAGCGTATGTTATTTGTTTCTTGAGGTTGAGTTTAAGAGACTTGTAAAAATAAAACGTATACATTTCACCTCCCGTTATGGAGAGGATTCCAGGGTATTCAAGAAAGATGGGCATTTGATACTAGGTTTCTAAAGAAACTGCAGTGTCTAGATCACTCTGCCGAGCACAGCATTAGGCATTATGGATCCTGGATACAACCATGAACAGGACAAAGCAAAGAGGCAATTGTAGACTCCAAGTGGAAAGGGGACGGAGAGGATGCGGGTCAGGCTAGGCTCTCAGCTCTGTAAACCGAAACCAGAAGGACAAATAAGCTTAGACAGATTATAGTGAGAGTGGGAAGCTGGTTCAGGAAGAGGAAGGTCTGCAAATTGTGGGTAGGATGAAAGGAGGAGGAGGGAGCATTGGAGAAGTTAAGCAGAGATCCAATCATGAACAGTCTGATGAGCTACAGAGACATTCGGACTTACTCCATGAATCATTTAAGCCTTAAAACATGTTGAGCGTATTTTTTTTTTTTTTGAGACGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGTGTGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCATCCTCTCAAGTACCTGGTATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTATAGTAGAGACGGGTTTCACCATGTTGGTCAGGCCAGTCGTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAACCACCGCACCTGGCCGTGAGCCACCGTGTCTGTCCGAGCATCTTTTAATGTTTGTCATTTAGATTTCTTCTTGTGCTGAAGTGTTTGTCTTTTGCTGTTTCTTTTTTTTTTCCTAGTTCTTTGTCATTTGTGTGTGATATAAATGTCTTCTTTCACAATGAGTTCTTTCATTTAGTTTATGGCTTTGTTGTTGTTGTTGAATAATAGAGGTCTCACTTTGTTGCCCAGGCTGGTGTTGAACTCTTGCTCTCAAGCGATCCTCCCACTTCAGCCTCCCAACCTGTTGGGATTACAAGTGTGAGCCACCACACCCAGCCTTATGGCATCTTTCGATGAACAAATTATTGATTATAATGTGGAATTTGTCCTTTTATTTTCTCTGTGGTTAGTGTTTCTATAGGTTTTATTTAAGAAATCCACAGGGAGGCTGGGTGCAGTGGCTCATGCCTGTAAACCCAACACTTTGGGAGGCCAAGGCAGGCCAACATGGCTAGACCCTGTCTCTCCAAAAAATAAGAAAATTAGCCAGGCATGGTGGCGTGTGCCTGTAGTCCCAGCTTCTTGGGAGACTGAGATGGGAGGATCGCTTGAGTCCAGGAGGTTGAGGCTGCAGTAAGCCAAGAGATCATGCCATGCACTCCAGCCTGGGTGGCAGAGTCAGACCCTGTCTGCCAAAAAATAAAATAAAAGTTGGTGAAA	G	G47783232A	MSH6	NM_000179.3(MSH6):c.-2_261-3610del	noncoding	Pathogenic
2	47783231	GGTATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGCCAACAAGGCCTCGGCCAGGGCCTCACGCGAAGGCGGCCGTGCCGCCGCTGCCCCCGGGGCCTCTCCTTCCCCAGGCGGGGATGCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCTTGGCGCGCTCCGCGTCACCGCCCAAGGCGAAGAACCTCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACCAGGTAGCGGGGTGGGGGTGGGGTCGAAGGCGGGGGCATAGCGGCGGGGCGCTTGGAACCCGGCGAGGGGAGGCTCGCACAGGGGGTTGGGGGGGTGCACGGCCTGGCCCTGGGCTCGGAGGAGGCGGGGCCGCAGAGTTGGCTTGAATGAGTGCAGGGGTCGAGTCTGGAGCATTTGGGGGTGTAGCTTGTAAACAGGGTCGGAGGAGAGAGGCTGTGCAGGAAGAGGGCTGCAGGGGAGACGCGGAGAGTTCGGGCCTTTTGGAGGGAGGAGACGCGTCCCGCCAGGTGGGGGTGCTGGGCTAAGGAAGGGGCGACGCGCGCAGCTCCGGGTGGGGAGGGGGCCTGGGAGGTGGGAGCACTGGGGGTGGGGCGAGAAGGGGAAGGCGCCCGGCCCACTTGGTGGGCGGGGCGGGGGGCGGGGTGGCGGGAAGGAGGAATGCCTGCGGGAGGCCGAACGGGGAGAGTCCGGTGGTGTGGGGTGCGAAAGGAGGTTCCTCGGCCGGCGCGGAGATAGTGAGTTGGGGCTCCAGTAGTCGATCGAGGTAGACACTTAGAGGTAGTTAAGAGCCGCGGTCGCCGAGACGCCTTGGGGACGGTGGGCCTTCGGCCTAGGTGAGGGGCCGCCGAGGGGGTGGGCCACGAGCTGCGAGCGCGGGGGGGTGTGTCACCATGGGGACCGCGGGGCCTAATTGGGCGGGGCGGGGCCGTGGGGAGCCGAAGTGCTGGGATCCGGCTGGGTCCTTCGGTAGGTAGGCTGCACGTGCACCGAGACGAAGATAGAATATTTTGACGTATGTGGAAATTCGTGTCGAGTGGAAAATATTTTATTTTATGAAATAGTGTAATTTTTATGGGGCACCACTGGGCTTTTAGAGGCCTTAATCGGGCGCTGGACAAAGATGTGTGGACGTGAGTGACTCCGGGGAAGCCTGTCGGGAGTTGTCCTCACTTTATGGGCAGTTAAGTGCTTTTTTTTTTTTTTCCTTTTTGAGAGAGAGTTTCGCTCAAGTCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCGTCCCGGCTTCAAGCGATTCCCCAGCTTCAGCCTCCCGAGTAGTCGGGATTACAGGAATGCGCCCCCACACCCCGCCAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCGGAATTCCCGACCTCAGGTGATCCACCCGCCTCGGCCTCAAAGTGCTGGGATTACAGGCGCTAGCCACCGCGCCCGGTCTGTTTAGGGCTTTTTATCCGGGCAGCTGGCGACATTTTGAAAAGCTTGCTTTTGCTGTTTGCCAGATACATATATATGTATTTTGAGACAGAGTCTTGCTCTTTTGTCCAGGCTAGAGTGCAGTGGCGCGTTCTTGGCTCACCACAACCTCTGTCTCTGGATCAAGAGATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGCCCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACTATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCTTGATCGGCCCGCATTGGCCTACCAAAGTGCTGGGATTACAGGCATGAACCACCGAGCCCGGCCGTTTGTCAGATACTAAACACAAAGTTTAATGGTCGCTATTTGAACAAACGAAGAAATAAAGGCTCAGAAAAAATAACTCATTCAAGATAAGAGCCAGTTCGTGTTTTTTGTTTGGTTTTGTTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTTTCTCGGCTCACTGCAACCTCTGCCCGCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACGGGTGTGCCCACCGCGGTCCGGCTGATTTTTCACCATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAAACTGCTGACCTCAAGTGGTCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCGCTAGTTAGTGGTTTTGAGTAATGGATTTCAAATCCATTTAAATCCAGTTTAAAGTGTCCTAAAGGAATTCTGAGATTTTTCTAAGTGTAATTATAGTGTTACCCTTGTTTAAGCGACCCTTTCCCGCAGTTTAAATATATATAGTTGTGCATTAGTAGAATATGCTTGTGGGGAACAGAGCCAGCATCCGCAATAACAAACTCCTGGTTAGAAAAGCATGACGTATTGTTTACTTGAGCATGAATTGATTGTTGAATCCAAACCAAACGGGTGTATTTATTGTAAGGATGTACTTTACATTCATATTGAATAGCGTATGTTATTTGTTTCTTGAGGTTGAGTTTAAGAGACTTGTAAAAATAAAACGTATACATTTCACCTCCCGTTATGGAGAGGATTCCAGGGTATTCAAGAAAGATGGGCATTTGATACTAGGTTTCTAAAGAAACTGCAGTGTCTAGATCACTCTGCCGAGCACAGCATTAGGCATTATGGATCCTGGATACAACCATGAACAGGACAAAGCAAAGAGGCAATTGTAGACTCCAAGTGGAAAGGGGACGGAGAGGATGCGGGTCAGGCTAGGCTCTCAGCTCTGTAAACCGAAACCAGAAGGACAAATAAGCTTAGACAGATTATAGTGAGAGTGGGAAGCTGGTTCAGGAAGAGGAAGGTCTGCAAATTGTGGGTAGGATGAAAGGAGGAGGAGGGAGCATTGGAGAAGTTAAGCAGAGATCCAATCATGAACAGTCTGATGAGCTACAGAGACATTCGGACTTACTCCATGAATCATTTAAGCCTTAAAACATGTTGAGCGTATTTTTTTTTTTTTTGAGACGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGTGTGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCATCCTCTCAAGTACCTGGTATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTATAGTAGAGACGGGTTTCACCATGTTGGTCAGGCCAGTCGTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAACCACCGCACCTGGCCGTGAGCCACCGTGTCTGTCCGAGCATCTTTTAATGTTTGTCATTTAGATTTCTTCTTGTGCTGAAGTGTTTGTCTTTTGCTGTTTCTTTTTTTTTTCCTAGTTCTTTGTCATTTGTGTGTGATATAAATGTCTTCTTTCACAATGAGTTCTTTCATTTAGTTTATGGCTTTGTTGTTGTTGTTGAATAATAGAGGTCTCACTTTGTTGCCCAGGCTGGTGTTGAACTCTTGCTCTCAAGCGATCCTC	G	G47783232C	MSH6	NM_000179.3(MSH6):c.-2_260+3387del	noncoding	Pathogenic
2	47783233	TATGTCG	ACCT	T47783233A	MSH6	NM_000179.3(MSH6):c.-1_6delinsACCT:p.Met1_Ser2delinsPro	noncoding	Pathogenic
2	47783265	T	TC	A47783270C	MSH6	NM_000179.3(MSH6):c.36dup:p.Lys13fs	coding	Pathogenic
2	47783266	CCCCAAGTCTCCGGCGCTGAGTGATGCCAACAAGG	C	C47783269T	MSH6	NM_000179.3(MSH6):c.36_69del:p.Lys13fs	coding	Pathogenic
2	47783320	CGAAGGCGGCCG	C	G47783321T	MSH6	NM_000179.3(MSH6):c.88_98del:p.Glu30fs	coding	Pathogenic
2	47783320	CGAAGGCGGCCGTG	C	G47783321C	MSH6	NM_000179.3(MSH6):c.88_100del:p.Glu30fs	coding	Pathogenic
2	47783322	AAGGCGGCCGTGCCGCC	A	A47783323G	MSH6	NM_000179.3(MSH6):c.90_105del:p.Gly31fs	coding	Pathogenic
2	47783323	AG	A	G47783325C	MSH6	NM_000179.3(MSH6):c.92del:p.Gly31fs	coding	Pathogenic
2	47783324	GGCGGCCGTGC	A	G47783324A	MSH6	NM_000179.3(MSH6):c.91_101delinsA:p.Gly31fs	coding	Pathogenic
2	47783324	GGCGGCCGTGCCGCC	A	G47783324A	MSH6	NM_000179.3(MSH6):c.91_105delinsA:p.Gly31fs	coding	Pathogenic
2	47783324	GGCGGCCGTGC	G	G47783325C	MSH6	NM_000179.3(MSH6):c.92_101del:p.Gly31fs	coding	Pathogenic
2	47783328	GCCGTGCC	G	C47783329G	MSH6	NM_000179.3(MSH6):c.96_102del:p.Arg33fs	coding	Pathogenic
2	47783342	G	GC	G47783348C	MSH6	NM_000179.3(MSH6):c.114dup:p.Gly39fs	coding	Pathogenic
2	47783347	CG	C	G47783351C	MSH6	NM_000179.3(MSH6):c.118del:p.Ala40fs	coding	Pathogenic
2	47783352	CCT	C	T47783356C	MSH6	NM_000179.3(MSH6):c.123_124del:p.Pro42fs	coding	Pathogenic
2	47783352	C	TT	C47783352T	MSH6	NM_000179.3(MSH6):c.119delinsTT:p.Ala40fs	coding	Pathogenic
2	47783368	CG	C	G47783372A	MSH6	NM_000179.3(MSH6):c.139del:p.Asp47fs	coding	Pathogenic
2	47783376	CGGCCTGGAGCGAGGCTG	C	A47783384G	MSH6	NM_000179.3(MSH6):c.151_167del:p.Ser51fs	coding	Pathogenic
2	47783390	GCTGGGCCTGGGCC	G	T47783392A	MSH6	NM_000179.3(MSH6):c.159_171del:p.Gly56fs	coding	Pathogenic
2	47783395	GCCTGGGCCCAGGC	G	G47783399T	MSH6	NM_000179.3(MSH6):c.166_178del:p.Gly56fs	coding	Pathogenic
2	47783397	CTGGGCCCAGG	C	T47783398C	MSH6	NM_000179.3(MSH6):c.165_174del:p.Gly56fs	coding	Pathogenic
2	47783398	TGGGCCCAGGCCCT	C	T47783398C	MSH6	NM_000179.3(MSH6):c.165_178delinsC:p.Gly56fs	coding	Pathogenic
2	47783400	GGC	G	G47783401C	MSH6	NM_000179.3(MSH6):c.168_169del:p.Pro57fs	coding	Pathogenic
2	47783413	GGC	G	G47783418T	MSH6	NM_000179.3(MSH6):c.185_186del:p.Arg62fs	coding	Pathogenic
2	47783467	ATCGG	A	C47783469A	MSH6	NM_000179.3(MSH6):c.236_239del:p.Arg78_Ser79insTer	coding	Pathogenic
2	47783503	TG	T	G47783508T	MSH6	NM_000179.3(MSH6):c.260+15del	noncoding	Benign/Likely_benign
2	47790926	GTTGTGACTTC	G	T47790928C	MSH6	NM_000179.3(MSH6):c.262_271del:p.Cys88fs	noncoding	Pathogenic
2	47790928	T	TG	T47790930G	MSH6	NM_000179.3(MSH6):c.263dup:p.Cys88fs	coding	Pathogenic
2	47790941	CA	C	A47790942G	MSH6	NM_000179.3(MSH6):c.276del:p.Gly93fs	coding	Pathogenic
2	47790979	TG	T	G47790981T	MSH6	NM_000179.3(MSH6):c.315del:p.Trp105fs	coding	Pathogenic
2	47790997	T	TAC	A47791001C	MSH6	NM_000179.3(MSH6):c.333_334dup:p.Asn112fs	coding	Pathogenic
2	47791004	AC	A	C47791008T	MSH6	NM_000179.3(MSH6):c.342del:p.Phe115fs	coding	Pathogenic
2	47791035	AG	A	G47791038A	MSH6	NM_000179.3(MSH6):c.372del:p.Lys125fs	coding	Pathogenic
2	47791062	GT	G	T47791068G	MSH6	NM_000179.3(MSH6):c.402del:p.Phe134fs	coding	Pathogenic
2	47791069	GAT	G	A47791070G	MSH6	NM_000179.3(MSH6):c.404_405del:p.Asp135fs	coding	Pathogenic
2	47791090	T	TG	T47791094G	MSH6	NM_000179.3(MSH6):c.427dup:p.Val143fs	coding	Pathogenic
2	47791105	C	CT	A47791110T	MSH6	NM_000179.3(MSH6):c.443dup:p.Leu148fs	coding	Pathogenic/Likely_pathogenic
2	47791106	TTTTA	C	T47791106C	MSH6	NM_000179.3(MSH6):c.440_444delinsC:p.Leu147fs	coding	Pathogenic
2	47791141	CAT	C	A47791142G	MSH6	NM_000179.3(MSH6):c.457+19_457+20del	noncoding	Benign/Likely_benign
2	47791154	TTGTG	T	T47791173A	MSH6	NM_000179.3(MSH6):c.457+32TG[9]	noncoding	Benign
2	47791154	TTG	T	T47791175A	MSH6	NM_000179.3(MSH6):c.457+32TG[10]	noncoding	Benign
2	47795891	TAGGTTCAAAATCAAAGGAAGCCCAGAAGGGAGGTCATTTTTACAGTGCAAAGCCTGAAATACTGAGAGCAATGCAACGTGCAGATGAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTGGCAGTTTGTGATGAGCCCTCAGAGCCAGAAGAGGAAGAAGAGATGGAGG	T	A47795892T	MSH6	NM_000179.3(MSH6):c.458-2_627+1del	noncoding	Pathogenic
2	47795903	C	CA	G47795907A	MSH6	NM_000179.3(MSH6):c.470dup:p.Glu158fs	coding	Pathogenic
2	47795906	A	AG	A47795909G	MSH6	NM_000179.3(MSH6):c.472dup:p.Glu158fs	coding	Pathogenic
2	47795906	AG	A	G47795908A	MSH6	NM_000179.3(MSH6):c.472del:p.Glu158fs	coding	Pathogenic
2	47795918	AG	A	G47795921A	MSH6	NM_000179.3(MSH6):c.485del:p.Gly162fs	coding	Pathogenic
2	47795920	GGA	G	A47795922G	MSH6	NM_000179.3(MSH6):c.486_487del:p.Gly163fs	coding	Pathogenic
2	47795927	AT	A	T47795932A	MSH6	NM_000179.3(MSH6):c.496del:p.Tyr166fs	coding	Pathogenic
2	47795945	C	CT	G47795947T	MSH6	NM_000179.3(MSH6):c.510dup:p.Glu171Ter	coding	Pathogenic
2	47795953	CT	C	T47795954G	MSH6	NM_000179.3(MSH6):c.518del:p.Leu173fs	coding	Pathogenic
2	47795973	AG	A	G47795974A	MSH6	NM_000179.3(MSH6):c.538del:p.Asp180fs	coding	Pathogenic
2	47795982	CTTAAATAAAGACAAGA	C	A47795987G	MSH6	NM_000179.3(MSH6):c.551_566del:p.Asn184fs	coding	Pathogenic
2	47795984	TA	T	A47795987T	MSH6	NM_000179.3(MSH6):c.551del:p.Asn184fs	coding	Pathogenic
2	47796011	AATTGGCAGTTTGTG	A	T47796014G	MSH6	NM_000179.3(MSH6):c.578_591del:p.Glu192_Leu193insTer	coding	Pathogenic
2	47796019	GT	G	T47796022G	MSH6	NM_000179.3(MSH6):c.586del:p.Cys196fs	coding	Pathogenic
2	47796034	TCA	T	C47796035G	MSH6	NM_000179.3(MSH6):c.599_600del:p.Pro199_Ser200insTer	coding	Pathogenic
2	47798618	CA	C	A47798620C	MSH6	NM_000179.3(MSH6):c.637del:p.Thr213fs	coding	Pathogenic
2	47798624	AC	A	C47798625G	MSH6	NM_000179.3(MSH6):c.642del:p.Thr213_Tyr214insTer	coding	Pathogenic
2	47798639	GT	G	T47798640G	MSH6	NM_000179.3(MSH6):c.657del:p.Ser219fs	coding	Pathogenic
2	47798645	A	AAGATAATG	A47798655G	MSH6	NM_000179.3(MSH6):c.664_671dup:p.Glu226fs	coding	Pathogenic
2	47798657	T	TTG	A47798660T	MSH6	NM_000179.3(MSH6):c.675_676dup:p.Glu226fs	coding	Pathogenic
2	47798698	A	AG	C47798701G	MSH6	NM_000179.3(MSH6):c.717dup:p.Arg240fs	coding	Pathogenic
2	47798699	GGCGAAGTA	G	G47798702C	MSH6	NM_000179.3(MSH6):c.719_726del:p.Arg240fs	coding	Pathogenic
2	47798752	G	GA	C47798754A	MSH6	NM_000179.3(MSH6):c.770dup:p.Asp257fs	coding	Pathogenic
2	47798755	AT	A	T47798757G	MSH6	NM_000179.3(MSH6):c.774del:p.Ile258fs	coding	Pathogenic
2	47798765	CT	C	T47798766G	MSH6	NM_000179.3(MSH6):c.783del:p.Asp262fs	coding	Pathogenic
2	47798792	AGGAG	A	G47798794A	MSH6	NM_000179.3(MSH6):c.811_814del:p.Glu271fs	coding	Pathogenic
2	47798799	A	ATTCC	G47798800T	MSH6	NM_000179.3(MSH6):c.816_817insTTCC:p.Gly273fs	coding	Pathogenic
2	47798811	TG	T	G47798812A	MSH6	NM_000179.3(MSH6):c.829del:p.Glu277fs	coding	Pathogenic
2	47798812	G	GA	T47798816A	MSH6	NM_000179.3(MSH6):c.832dup:p.Ile278fs	coding	Pathogenic
2	47798824	GGAGTGGGGGATAGTGA	G	G47798830A	MSH6	NM_000179.3(MSH6):c.847_862del:p.Gly283fs	coding	Pathogenic
2	47798826	A	AAC	G47798827A	MSH6	NM_000179.3(MSH6):c.843_844insAC:p.Val282fs	coding	Pathogenic
2	47798828	T	TGGGG	A47798834G	MSH6	NM_000179.3(MSH6):c.847_850dup:p.Asp284fs	coding	Pathogenic
2	47798833	GA	G	A47798834T	MSH6	NM_000179.3(MSH6):c.851del:p.Asp284fs	coding	Pathogenic
2	47798838	TGA	T	A47798842T	MSH6	NM_000179.3(MSH6):c.859_860del:p.Glu286_Ser287insTer	coding	Pathogenic
2	47798851	C	CT	G47798853T	MSH6	NM_000179.3(MSH6):c.869dup:p.Asn291fs	coding	Pathogenic
2	47798860	CCT	C	C47798861G	MSH6	NM_000179.3(MSH6):c.878_879del:p.Pro293fs	coding	Pathogenic
2	47798881	CG	C	G47798883A	MSH6	NM_000179.3(MSH6):c.900del:p.Lys301fs	coding	Pathogenic
2	47798882	GGAAGAGAATGGTGA	G	G47798883C	MSH6	NM_000179.3(MSH6):c.900_913del:p.Lys301fs	coding	Pathogenic
2	47798886	GA	G	A47798887G	MSH6	NM_000179.3(MSH6):c.904del:p.Arg302fs	coding	Pathogenic
2	47798886	G	GA	G47798888A	MSH6	NM_000179.3(MSH6):c.904dup:p.Arg302fs	coding	Pathogenic
2	47798906	GCT	G	C47798911T	MSH6	NM_000179.3(MSH6):c.928_929del:p.Ser309_Leu310insTer	coding	Pathogenic
2	47798911	CTTA	T	C47798911T	MSH6	NM_000179.3(MSH6):c.928_931delinsT:p.Leu310_Lys311delinsTer	coding	Pathogenic
2	47798911	CTT	C	T47798912A	MSH6	NM_000179.3(MSH6):c.929_930del:p.Leu310fs	coding	Pathogenic
2	47798919	GA	G	A47798923G	MSH6	NM_000179.3(MSH6):c.940del:p.Ser314fs	coding	Pathogenic
2	47798927	C	CT	A47798929T	MSH6	NM_000179.3(MSH6):c.945dup:p.Arg316Ter	coding	Pathogenic
2	47798935	G	GA	C47798939A	MSH6	NM_000179.3(MSH6):c.955dup:p.Thr319fs	coding	Pathogenic
2	47798958	A	AGTTGC	C47798960T	MSH6	NM_000179.3(MSH6):c.976_977insTTGCG:p.Ala326fs	coding	Pathogenic
2	47798960	CA	C	A47798962C	MSH6	NM_000179.3(MSH6):c.979del:p.Thr327fs	coding	Pathogenic
2	47799042	TG	T	G47799044A	MSH6	NM_000179.3(MSH6):c.1061del:p.Gly354fs	coding	Pathogenic
2	47799046	GGT	G	T47799048G	MSH6	NM_000179.3(MSH6):c.1065_1066del:p.Gly355_Gly356insTer	coding	Pathogenic
2	47799051	TGATGACAG	T	G47799052T	MSH6	NM_000179.3(MSH6):c.1069_1076del:p.Gly356_Asp357insTer	coding	Pathogenic
2	47799054	T	TCA	G47799055C	MSH6	NM_000179.3(MSH6):c.1071_1072insCA:p.Asp358fs	coding	Pathogenic
2	47799063	TCGCCC	T	C47799064T	MSH6	NM_000179.3(MSH6):c.1081_1085del:p.Arg361fs	coding	Pathogenic
2	47799071	C	CT	G47799073T	MSH6	NM_000179.3(MSH6):c.1089dup:p.Val364fs	coding	Pathogenic
2	47799088	AC	A	C47799089T	MSH6	NM_000179.3(MSH6):c.1106del:p.Thr369fs	coding	Pathogenic
2	47799094	G	GA	T47799097A	MSH6	NM_000179.3(MSH6):c.1113dup:p.Trp372fs	coding	Pathogenic
2	47799112	AAG	A	G47799116A	MSH6	NM_000179.3(MSH6):c.1133_1134del:p.Arg378fs	coding	Pathogenic
2	47799118	AG	A	G47799119A	MSH6	NM_000179.3(MSH6):c.1136del:p.Arg379fs	coding	Pathogenic
2	47799144	T	TC	A47799146C	MSH6	NM_000179.3(MSH6):c.1162dup:p.His388fs	coding	Pathogenic
2	47799149	C	CCGATTTTGATGCATCTACACTCT	A47799173C	MSH6	NM_000179.3(MSH6):c.1167_1189dup:p.Tyr397fs	coding	Pathogenic
2	47799168	ACT	A	C47799171A	MSH6	NM_000179.3(MSH6):c.1188_1189del:p.Tyr397fs	coding	Pathogenic
2	47799180	TGAGGATTTCC	T	G47799181T	MSH6	NM_000179.3(MSH6):c.1198_1207del:p.Glu400fs	coding	Pathogenic
2	47799183	G	GC	G47799184C	MSH6	NM_000179.3(MSH6):c.1200_1201insC:p.Asp401fs	coding	Pathogenic
2	47799213	GAGGA	G	G47799216T	MSH6	NM_000179.3(MSH6):c.1233_1236del:p.Arg411fs	coding	Pathogenic
2	47799214	A	AG	A47799217G	MSH6	NM_000179.3(MSH6):c.1233dup:p.Lys412fs	coding	Pathogenic
2	47799214	AG	A	G47799216A	MSH6	NM_000179.3(MSH6):c.1233del:p.Lys412fs	coding	Pathogenic
2	47799216	GA	G	A47799218G	MSH6	NM_000179.3(MSH6):c.1235del:p.Lys412fs	coding	Pathogenic
2	47799231	TA	T	A47799233G	MSH6	NM_000179.3(MSH6):c.1250del:p.Lys417fs	coding	Pathogenic
2	47799234	GTC	G	T47799237A	MSH6	NM_000179.3(MSH6):c.1254_1255del:p.Gln419fs	coding	Pathogenic/Likely_pathogenic
2	47799238	CAG	C	G47799240A	MSH6	NM_000179.3(MSH6):c.1257_1258del:p.Asn420fs	coding	Pathogenic
2	47799240	GA	G	A47799242C	MSH6	NM_000179.3(MSH6):c.1259del:p.Asn420fs	coding	Pathogenic
2	47799246	TG	T	G47799247A	MSH6	NM_000179.3(MSH6):c.1264del:p.Asp422fs	coding	Pathogenic
2	47799248	A	AT	C47799250T	MSH6	NM_000179.3(MSH6):c.1266dup:p.Leu423fs	coding	Pathogenic
2	47799258	C	CT	G47799260T	MSH6	NM_000179.3(MSH6):c.1276dup:p.Cys426fs	coding	Pathogenic
2	47799261	TTACA	T	T47799262A	MSH6	NM_000179.3(MSH6):c.1279_1282del:p.Tyr427fs	coding	Pathogenic
2	47799268	GT	G	T47799269G	MSH6	NM_000179.3(MSH6):c.1286del:p.Val429fs	coding	Pathogenic
2	47799279	TTA	T	A47799281G	MSH6	NM_000179.3(MSH6):c.1298_1299del:p.Phe432_Tyr433insTer	coding	Pathogenic
2	47799289	T	TACCA	C47799294A	MSH6	NM_000179.3(MSH6):c.1307_1310dup:p.His437fs	coding	Pathogenic
2	47799290	A	AC	A47799293C	MSH6	NM_000179.3(MSH6):c.1309dup:p.His437fs	coding	Pathogenic/Likely_pathogenic
2	47799294	CATGG	C	G47799298C	MSH6	NM_000179.3(MSH6):c.1315_1318del:p.Asp439fs	coding	Pathogenic
2	47799296	TG	T	G47799298A	MSH6	NM_000179.3(MSH6):c.1315del:p.Asp439fs	coding	Pathogenic
2	47799304	C	CT	A47799307T	MSH6	NM_000179.3(MSH6):c.1323dup:p.Ile442fs	coding	Pathogenic
2	47799305	T	TTCAA	A47799307C	MSH6	NM_000179.3(MSH6):c.1323_1324insCAAT:p.Ile442fs	coding	Pathogenic
2	47799321	A	AC	T47799323C	MSH6	NM_000179.3(MSH6):c.1339dup:p.Leu447fs	coding	Pathogenic
2	47799327	GC	G	C47799328T	MSH6	NM_000179.3(MSH6):c.1345del:p.Leu449fs	coding	Pathogenic
2	47799327	G	GC	T47799329C	MSH6	NM_000179.3(MSH6):c.1345dup:p.Leu449fs	coding	Pathogenic
2	47799329	T	TGGTATTCATGAAAGGCAACTGGGCCC	A47799356G	MSH6	NM_000179.3(MSH6):c.1347_1372dup:p.His458delinsArgTyrSerTer	coding	Pathogenic
2	47799347	ACT	A	C47799348G	MSH6	NM_000179.3(MSH6):c.1365_1366del:p.Asn455fs	coding	Pathogenic
2	47799359	C	CT	G47799361T	MSH6	NM_000179.3(MSH6):c.1377dup:p.Gly460fs	coding	Pathogenic
2	47799370	GA	G	A47799373T	MSH6	NM_000179.3(MSH6):c.1390del:p.Ile464fs	coding	Pathogenic
2	47799373	AT	A	T47799375G	MSH6	NM_000179.3(MSH6):c.1392del:p.Ile464fs	coding	Pathogenic
2	47799386	G	GT	A47799389T	MSH6	NM_000179.3(MSH6):c.1405dup:p.Tyr469fs	coding	Pathogenic
2	47799388	T	TA	T47799390A	MSH6	NM_000179.3(MSH6):c.1406dup:p.Tyr469Ter	coding	Pathogenic
2	47799396	T	TTCCCTGGTGCAGAAGGGCTATAAAGTAGCACGAGTGGAACAGA	C47799440T	MSH6	NM_000179.3(MSH6):c.1414_1456dup:p.Thr486delinsIleProGlyAlaGluGlyLeuTer	coding	Pathogenic
2	47799402	GGT	G	T47799404C	MSH6	NM_000179.3(MSH6):c.1421_1422del:p.Val474fs	coding	Pathogenic
2	47799408	GAAGGGCT	G	A47799410T	MSH6	NM_000179.3(MSH6):c.1427_1433del:p.Lys476fs	coding	Pathogenic
2	47799418	AAAGTAGCACG	A	A47799420G	MSH6	NM_000179.3(MSH6):c.1437_1446del:p.Val480fs	coding	Pathogenic
2	47799420	A	AG	T47799422G	MSH6	NM_000179.3(MSH6):c.1438dup:p.Val480fs	coding	Pathogenic
2	47799420	AGTAG	A	G47799421C	MSH6	NM_000179.3(MSH6):c.1438_1441del:p.Val480fs	coding	Pathogenic
2	47799431	TG	T	G47799433A	MSH6	NM_000179.3(MSH6):c.1450del:p.Glu484fs	coding	Pathogenic
2	47799472	A	AGAAAGATGGCACATATATCCAAGTAT	T47799501A	MSH6	NM_000179.3(MSH6):c.1492_1517dup:p.Asp506fs	coding	Pathogenic
2	47799473	GA	G	A47799476G	MSH6	NM_000179.3(MSH6):c.1493del:p.Lys498fs	coding	Pathogenic
2	47799479	TG	T	G47799481C	MSH6	NM_000179.3(MSH6):c.1498del:p.Ala500fs	coding	Pathogenic
2	47799508	GT	G	T47799509G	MSH6	NM_000179.3(MSH6):c.1526del:p.Val509fs	coding	Pathogenic
2	47799509	T	TGA	G47799513A	MSH6	NM_000179.3(MSH6):c.1528_1529dup:p.Arg511fs	coding	Pathogenic
2	47799516	G	GT	G47799517T	MSH6	NM_000179.3(MSH6):c.1533_1534insT:p.Glu512Ter	coding	Pathogenic
2	47799524	G	GT	A47799526T	MSH6	NM_000179.3(MSH6):c.1542dup:p.Arg515Ter	coding	Pathogenic
2	47799531	CA	C	A47799532T	MSH6	NM_000179.3(MSH6):c.1549del:p.Ile517fs	coding	Pathogenic
2	47799531	C	CT	A47799532T	MSH6	NM_000179.3(MSH6):c.1548_1549insT:p.Ile517fs	coding	Pathogenic
2	47799541	G	GTA	G47799542T	MSH6	NM_000179.3(MSH6):c.1558_1559insTA:p.Gly520fs	coding	Pathogenic
2	47799549	GACTT	G	T47799552A	MSH6	NM_000179.3(MSH6):c.1569_1572del:p.Tyr524fs	coding	Pathogenic
2	47799552	T	TTACAGTGTGCTGGAAGGGA	T47799570G	MSH6	NM_000179.3(MSH6):c.1586_1587insGATACAGTGTGCTGGAAGG:p.Asp530fs	coding	Pathogenic
2	47799554	AC	A	C47799555A	MSH6	NM_000179.3(MSH6):c.1572del:p.Thr523_Tyr524insTer	coding	Pathogenic
2	47799555	C	CAGTGTGCTGGAAGGTGATCCCTCTGAGAACTACAGTAAGTATCTTCTTAGCCTCAAAGAAAAAGAGGAAGATTCTTCTGGCCATACTCGTGCATATGGTGTGTGCTTTGTTGATACTTCACTGGGAAAGTTTTTCATAGGTCAGTTTTCAGATGATCGCCATTGTTCGAGATTTAGGACTCTAGTGGCACACTATCCCCCAGTACAAGTTTTATTTGAAAAAGGAAATCTCTCAAAGGAAACTAAAACAATTCTAAAGAGTTCATTGTCCTGTTCTCTTCAGGAAGGTCTGATACCCGGCTCCCAGTTTTGGGATGCATCCAAAACTTTGAGAACTCTCCTTGAGGAAGAATATTTTAGGGAAAAGCTAAGTGATGGCATTGGGGTGATGTTACCCCAGGTGCTTAAAGGTATGACTTCAGAGTCTGATTCCATTGGGTTGACACCAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACACAGTCAGCACTACAAGATCTGGTGCTATCTTCACCAAAGCCTATCAACGAATGGTGCTAGATGCAGTGACATTAAACAACTTGGAGATTTTTCTGAATGGAACAAATGGTTCTACTGAAGGAACCCTACTAGAGAGGGTTGATACTTGCCATACTCCTTTTGGTAAGCGGCTCCTAAAGCAATGGCTTTGTGCCCCACTCTGTAACCATTATGCTATTAATGATCGTCTAGATGCCATAGAAGACCTCATGGTTGTGCCTGACAAAATCTCCGAAGTTGTAGAGCTTCTAAAGAAGCTTCCAGATCTTGAGAGGCTACTCAGTAAAATTCATAATGTTGGGTCTCCCCTGAAGAGTCAGAACCACCCAGACAGCAGGGCTATAATGTATGAAGAAACTACATACAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGTAAAATTATAGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAATCCTTAAGCAGGTCATCTCTCTGCAGACAAAAAATCCTGAAGGTCGTTTTCCTGATTTGACTGTAGAATTGAACCGATGGGATACAGCCTTTGACCATGAAAAGGCTCGAAAGACTGGACTTATTACTCCCAAAGCAGGCTTTGACTCTGATTATGACCAAGCTCTTGCTGACATAAGAGAAAATGAACAGAGCCTCCTGGAATACCTAGAGAAACAGCGCAACAGAATTGGCTGTAGGACCATAGTCTATTGGGGGATTGGTAGGAACCGTTACCAGCTGGAAATTCCTGAGAATTTCACCACTCGCAATTTGCCAGAAGAATACGAGTTGAAATCTACCAAGAAGGGCTGTAAACGATACTGGACCAAAACTATTGAAAAGAAGTTGGCTAATCTCATAAATGCTGAAGAACGGAGGGATGTATCATTGAAGGACTGCATGCGGCGACTGTTCTATAACTTTGATAAAAATTACAAGGACTGGCAGTCTGCTGTAGAGTGTATCGCAGTGTTGGGTAAGACTTTGAACAAGCTTGTTCTCAGGCTTTGATAAGTAGTGCTGTTTGCCAGCTGTATATTATCCCTAAAAATAAGTAATAAGGTATATATGGTACATATTTTGACATGCATATACATATTTGCATCCTGACTAGGCTGCCCACAGCAATTTAAGTTACTTGAAACTCGCTTTTATCTTAGTAGCCCTTTGGCCTTTCTTCAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACATGGTCTTGCTCTGTTGCCCAGGCTAGAATATGGTGACACAACCATGGCTACTGCAGCCTCGACCTCCCAGGCTTAAGTGATCTTTCCACCTCAGCCTCCCAAGTAGCTGAGATTACAGATATGCACCACCATGCATGGCTAATATTTAAATGTTTGTAGAGAGATGGGGTCTCACTGTGTTGCCAGGACTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCGGCTTCCCAAAGTGCTGAGGTTACAGGCATGACCCATTGCGCCTGGCCCTTTCTTCAGTCTTTAATAATCGAACAAAAGGTTTTTGTTTTTAGACAGTGTCTTGCTCTGTTACCCAGGACAGACCTCTCGTGTCAGCCTCTTAGGTAGCTAGGATTTACAGGTAAGCACCGGCGTGCCCTGCTTTATTTTTTTGGTGGGGGAAGGGGGAAGGGAGTTGAAGCTTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCAGTCTCCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCCAAAAGATTTTTAAATGTGTTATACTTCATGAGACAGGCTTTATTTTAGATCGAATTTTATTTATCAATAAAAAGTTGAGCTTTTTATTATTTGGTGAATACTGTTTCAAGGTGCTTTGTTACACTATCTGTTGATCCAACATTTAAAAATTGTTTTATTACAACCTTTGCATTTCAGTGAATCCATCTGCATACAATTTTAAAAGAATCATTCCTTTTTTCTGTAGCCAAATTGTCAAAGATTCTTTCCTACAATTGATTTTTCAAAGCCCTGAGTTAGGAATTTACAATTTGGCAACCATCTCAACTTCATAAGCAATTTTGTTCTTTAAATGTCACGGCCAACATTACCTGGAACCATTGCTGTTTTATAGTTTAGGTTTATGTTGTATATTTTTTTTAATTTTTTAGAGACGGGGTCTTGCTGTTTTCAGACTGGAGTACAATGGGATGACTAGCTCACTGCAGCCTCAAACTGCTGGGTTCAAGTGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGTCACCATCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTTTCCCGTGTTGGCCAGGCTGTTCTTGAATTCCTGACCTCAAAGCGATCTGCCCGCCTTGATCTCCGAAAGAGCTGGGATTACACGCATGAGCCACTGCGCCCAGCCCTGTTTTTTTTTTTTTTTTTTTTTTAAATAATGGTAGTTTACTTGAATTTGTAACACAGTAACACAAAACTATTTTGATCTGAACGCAAGTATCTAATGGAACAGAATAATATACTTCCTTTTAGTGTGCTGCATTTGGTTACTGGGTAATTTAAAATTCTTCCTCAGCACAGGTGTTCAAAAACCAGTCTTCAGAGATTGTTTTCATATCAGTGTGCCAACTTTGGCACATTCTGCTAAGTAAGAGGCTTAAGTGTAGCATGTTTCTGCTGTTTTGTGTTTGTTTTGTTTTGTTTTTTGAGACAGAGTCTCTCTGTCGCCCAGGCTGGAGTGCATTGGTGCGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATATGCCACGTGTATTAGGCACTGCTAATTTCTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCCTGAACTGCTGACCTCGTGAACTCTGCCCGCCTAGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCTGCTCTATCTTTTAGCTTTCCCTTGGCACTTCTATGGTCCAGATGTTAGAGGGTAAGTATTTTGATGGGGGAGATCGTTGGACTGTAATTGAAAGTTATGTCTTATAATGAAATGTGTTATATAAAGAAGACCTATAAAACACTTAGGCTGATAAAACCCCCAAACGATGAAGCCTCACTTTTACCCTCTCTTTTAACAGATGTTTTACTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCAGTAATTCTGTTGCCGGAAGATACCCCCCCCTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACTTTTTTTGGAGATGATTTTATTCCTAATGACATTCTAATAGGCTGTGAGGAAGAGGAGCAGGAAAATGGCAAAGCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTATATTCATAGTGAACAAAAATACAAAGGCTGTATGAAAAGATGAAAATGTTACAGGTTTATCCTTAAATTAGACTCATTTGCAGAAATGCAAATGAGGTAAGAAAGCAAATATAGTTCATGACCTCTAGCAACTGTTGAAAACTGCTCTTTAGGGATGACATGCTGGCCCTTTTTTTTTTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTG	T47804483G	MSH6	NM_000179.3(MSH6):c.1574_3439-428dup	coding	Pathogenic
2	47799556	A	AGT	C47799562T	MSH6	NM_000179.3(MSH6):c.1577_1578dup:p.Leu527fs	coding	Pathogenic
2	47799563	TG	T	G47799565A	MSH6	NM_000179.3(MSH6):c.1582del:p.Glu528fs	coding	Pathogenic
2	47799570	T	TG	A47799572G	MSH6	NM_000179.3(MSH6):c.1588dup:p.Asp530fs	coding	Pathogenic
2	47799573	TC	T	C47799576T	MSH6	NM_000179.3(MSH6):c.1593del:p.Ser532fs	coding	Pathogenic
2	47799589	AG	A	G47799590T	MSH6	NM_000179.3(MSH6):c.1607del:p.Ser536fs	coding	Pathogenic
2	47799594	GT	G	T47799595A	MSH6	NM_000179.3(MSH6):c.1612del:p.Tyr538fs	coding	Pathogenic
2	47799608	TC	T	C47799609A	MSH6	NM_000179.3(MSH6):c.1626del:p.Glu544fs	coding	Pathogenic
2	47799613	GA	G	A47799618G	MSH6	NM_000179.3(MSH6):c.1635del:p.Glu546fs	coding	Pathogenic
2	47799621	GG	A	G47799621A	MSH6	NM_000179.3(MSH6):c.1638_1639delinsA:p.Glu547fs	coding	Pathogenic
2	47799630	T	TTCTGGCCATACTCGTGCATATGG	G47799655C	MSH6	NM_000179.3(MSH6):c.1649_1671dup:p.Val558fs	coding	Pathogenic
2	47799631	TC	T	C47799632T	MSH6	NM_000179.3(MSH6):c.1649del:p.Ser550fs	coding	Pathogenic
2	47799640	AC	A	C47799641T	MSH6	NM_000179.3(MSH6):c.1658del:p.Thr553fs	coding	Pathogenic
2	47799643	CG	C	G47799644T	MSH6	NM_000179.3(MSH6):c.1661del:p.Arg554fs	coding	Pathogenic
2	47799653	G	GT	G47799655T	MSH6	NM_000179.3(MSH6):c.1671dup:p.Val558fs	coding	Pathogenic
2	47799671	CT	C	T47799673C	MSH6	NM_000179.3(MSH6):c.1690del:p.Ser564fs	coding	Pathogenic
2	47799677	TG	T	G47799680A	MSH6	NM_000179.3(MSH6):c.1697del:p.Gly566fs	coding	Pathogenic
2	47799680	GA	G	A47799683G	MSH6	NM_000179.3(MSH6):c.1700del:p.Lys567fs	coding	Pathogenic
2	47799682	AAGTT	TAC	A47799682T	MSH6	NM_000179.3(MSH6):c.1699_1703delinsTAC:p.Lys567fs	coding	Pathogenic
2	47799684	G	GT	C47799690T	MSH6	NM_000179.3(MSH6):c.1706dup:p.Ile570fs	coding	Pathogenic
2	47799693	AG	A	G47799695T	MSH6	NM_000179.3(MSH6):c.1712del:p.Gly571fs	coding	Pathogenic
2	47799711	TC	T	C47799712G	MSH6	NM_000179.3(MSH6):c.1729del:p.Arg577fs	coding	Pathogenic
2	47799737	TA	CT	T47799737C	MSH6	NM_000179.3(MSH6):c.1754_1755delinsCT:p.Leu585Pro	coding	Pathogenic
2	47799738	A	AGTGGCACACTATCCCCCAGTACAAGTTTTATTTGAAAAAGGAAATCTCTCAAAGGAAACTAAAACAATTCTAAAGAGTTCATTGTCCTGTTCTCTTCAGGAAGGTCTGATACCCGGCTCCCAGTTTTGGGATGCATCCAAAACTTTGAGAACTCTCCTTGAGGAAGAATATTTTAGGGAAAAGCTAAGTGATGGCATTGGGGTGATGTTACCCCAGGTGCTTAAAGGTATGACTTCAGAGTCTGATTCCATTGGGTTGACACCAGGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACACAGTCAGCACTACAAGATCTGGTGCTATCTTCACCAAAGCCTATCAACGAATGGTGCTAGATGCAGTGACATTAAACAACTT	G47800213T	MSH6	NM_000179.3(MSH6):c.1757_2229dup:p.Glu744delinsTrpHisThrIleProGlnTyrLysPheTyrLeuLysLysGluIleSerGlnArgLysLeuLysGlnPheTer	coding	Pathogenic
2	47799740	TG	T	G47799742C	MSH6	NM_000179.3(MSH6):c.1759del:p.Ala587fs	coding	Pathogenic
2	47799747	CTA	C	A47799749C	MSH6	NM_000179.3(MSH6):c.1766_1767del:p.Tyr589fs	coding	Pathogenic
2	47799768	A	AT	G47799772T	MSH6	NM_000179.3(MSH6):c.1788dup:p.Glu597Ter	coding	Pathogenic
2	47799784	CT	C	T47799785C	MSH6	NM_000179.3(MSH6):c.1802del:p.Leu601fs	coding	Pathogenic
2	47799788	CAAAGG	C	G47799792C	MSH6	NM_000179.3(MSH6):c.1809_1813del:p.Lys603fs	coding	Pathogenic
2	47799793	GA	G	A47799796C	MSH6	NM_000179.3(MSH6):c.1813del:p.Thr605fs	coding	Pathogenic
2	47799793	G	GA	C47799797A	MSH6	NM_000179.3(MSH6):c.1813dup:p.Thr605fs	coding	Pathogenic
2	47799795	AAC	TAAAGAAT	A47799795T	MSH6	NM_000179.3(MSH6):c.1812_1814delinsTAAAGAAT:p.Glu604fs	coding	Pathogenic
2	47799797	C	CT	A47799799T	MSH6	NM_000179.3(MSH6):c.1815dup:p.Lys606Ter	coding	Pathogenic
2	47799802	AC	A	C47799803A	MSH6	NM_000179.3(MSH6):c.1820del:p.Thr607fs	coding	Pathogenic
2	47799803	CAATTCTAAAGAGTTCATTGTCCTGTTCTCTTCAGGAAGGTCTGATACCCGGCTCCCAGTTTTGGGATGCATCCAAAACT	C	A47799804T	MSH6	NM_000179.3(MSH6):c.1821_1899del:p.Thr607_Ile608insTer	coding	Pathogenic
2	47799809	TAA	T	A47799811G	MSH6	NM_000179.3(MSH6):c.1828_1829del:p.Lys610fs	coding	Pathogenic
2	47799828	T	TTC	T47799834C	MSH6	NM_000179.3(MSH6):c.1849_1850dup:p.Gln618fs	coding	Pathogenic
2	47799848	T	TACCC	G47799853A	MSH6	NM_000179.3(MSH6):c.1866_1869dup:p.Gly624fs	coding	Pathogenic
2	47799861	G	GT	G47799866T	MSH6	NM_000179.3(MSH6):c.1882dup:p.Trp628fs	coding	Pathogenic
2	47799876	CA	C	A47799880C	MSH6	NM_000179.3(MSH6):c.1897del:p.Thr633fs	coding	Pathogenic
2	47799881	CT	C	T47799884G	MSH6	NM_000179.3(MSH6):c.1901del:p.Thr633_Leu634insTer	coding	Pathogenic
2	47799885	G	GAGAACTCTCCTTGAGGA	T47799907C	MSH6	NM_000179.3(MSH6):c.1907_1923dup:p.Tyr642fs	coding	Pathogenic
2	47799889	ACT	A	T47799893C	MSH6	NM_000179.3(MSH6):c.1910_1911del:p.Leu637fs	coding	Pathogenic
2	47799895	CT	C	T47799897G	MSH6	NM_000179.3(MSH6):c.1914del:p.Glu639fs	coding	Pathogenic
2	47799901	GA	G	A47799903G	MSH6	NM_000179.3(MSH6):c.1920del:p.Glu641fs	coding	Pathogenic
2	47799906	ATATTT	A	T47799909G	MSH6	NM_000179.3(MSH6):c.1926_1930del:p.Tyr642_Arg644delinsTer	coding	Pathogenic
2	47799920	AGCTAAGTGAT	A	C47799922G	MSH6	NM_000179.3(MSH6):c.1939_1948del:p.Leu647fs	coding	Pathogenic
2	47799926	G	GT	G47799928T	MSH6	NM_000179.3(MSH6):c.1944dup:p.Asp649Ter	coding	Pathogenic
2	47799936	T	TG	T47799941G	MSH6	NM_000179.3(MSH6):c.1957dup:p.Val653fs	coding	Pathogenic
2	47799942	GAT	G	A47799943G	MSH6	NM_000179.3(MSH6):c.1960_1961del:p.Met654fs	coding	Pathogenic
2	47799943	A	ATG	T47799947G	MSH6	NM_000179.3(MSH6):c.1962_1963dup:p.Leu655fs	coding	Pathogenic
2	47799958	C	CT	A47799961T	MSH6	NM_000179.3(MSH6):c.1977dup:p.Lys660Ter	coding	Pathogenic
2	47799961	AAAGG	A	A47799962T	MSH6	NM_000179.3(MSH6):c.1979_1982del:p.Lys660fs	coding	Pathogenic
2	47799962	AA	G	A47799962G	MSH6	NM_000179.3(MSH6):c.1979_1980delinsG:p.Lys660fs	coding	Pathogenic
2	47799963	AG	A	G47799965T	MSH6	NM_000179.3(MSH6):c.1982del:p.Gly661fs	coding	Pathogenic
2	47800007	AGAAAAGT	A	A47800011T	MSH6	NM_000179.3(MSH6):c.2028_2034del:p.Lys676fs	coding	Pathogenic
2	47800023	C	CCT	G47800030C	MSH6	NM_000179.3(MSH6):c.2045_2046dup:p.Ala683fs	coding	Pathogenic
2	47800027	TC	T	C47800028T	MSH6	NM_000179.3(MSH6):c.2045del:p.Ser682fs	coding	Pathogenic
2	47800038	TG	T	G47800040T	MSH6	NM_000179.3(MSH6):c.2057del:p.Gly686fs	coding	Pathogenic
2	47800040	G	GT	G47800043T	MSH6	NM_000179.3(MSH6):c.2059dup:p.Cys687fs	coding	Pathogenic
2	47800063	TG	T	G47800064C	MSH6	NM_000179.3(MSH6):c.2081del:p.Cys694fs	coding	Pathogenic
2	47800081	C	CT	A47800086T	MSH6	NM_000179.3(MSH6):c.2102dup:p.Leu701fs	coding	Pathogenic
2	47800105	G	GAAT	T47800110A	MSH6	NM_000179.3(MSH6):c.2124_2126dup:p.Tyr709Ter	coding	Pathogenic/Likely_pathogenic
2	47800110	TA	T	A47800111T	MSH6	NM_000179.3(MSH6):c.2128del:p.Ile710fs	coding	Pathogenic
2	47800111	ATTCCC	A	C47800114G	MSH6	NM_000179.3(MSH6):c.2131_2135del:p.Pro711fs	coding	Pathogenic
2	47800147	T	TC	T47800149C	MSH6	NM_000179.3(MSH6):c.2165dup:p.Gly723fs	coding	Pathogenic
2	47800156	ATCTTCACCAAAGCC	A	C47800158A	MSH6	NM_000179.3(MSH6):c.2175_2188del:p.Phe726fs	coding	Pathogenic
2	47800157	T	TC	T47800159C	MSH6	NM_000179.3(MSH6):c.2175dup:p.Phe726fs	coding	Pathogenic
2	47800168	GC	G	C47800170T	MSH6	NM_000179.3(MSH6):c.2187del:p.Tyr730fs	coding	Pathogenic
2	47800176	AC	A	C47800177G	MSH6	NM_000179.3(MSH6):c.2194del:p.Arg732fs	coding	Pathogenic
2	47800178	GA	G	A47800180T	MSH6	NM_000179.3(MSH6):c.2197del:p.Met733fs	coding	Pathogenic
2	47800202	TAAACAACTTGGAGATTTTTCTGAATGGAACA	T	A47800205T	MSH6	NM_000179.3(MSH6):c.2222_2252del:p.Asn741fs	coding	Pathogenic
2	47800210	T	TTA	G47800212A	MSH6	NM_000179.3(MSH6):c.2228_2229insAT:p.Glu744fs	coding	Pathogenic
2	47800257	A	AC	T47800259C	MSH6	NM_000179.3(MSH6):c.2275dup:p.Leu759fs	coding	Pathogenic
2	47800257	AC	A	C47800258T	MSH6	NM_000179.3(MSH6):c.2275del:p.Leu758_Leu759insTer	coding	Pathogenic
2	47800260	A	AGAGAG	G47800267A	MSH6	NM_000179.3(MSH6):c.2279_2283dup:p.Val762fs	coding	Pathogenic
2	47800260	AGAGAGGGTTGATACTTGCC	A	G47800261A	MSH6	NM_000179.3(MSH6):c.2278_2296del:p.Glu760fs	coding	Pathogenic
2	47800264	AG	A	G47800267T	MSH6	NM_000179.3(MSH6):c.2284del:p.Val762fs	coding	Pathogenic
2	47800271	A	ATAAG	C47800274A	MSH6	NM_000179.3(MSH6):c.2290_2291insAGTA:p.Thr764fs	coding	Pathogenic
2	47800282	ACTC	A	C47800285T	MSH6	NM_000179.3(MSH6):c.2302_2304del:p.Pro768del	coding	Pathogenic/Likely_pathogenic
2	47800285	CCTTTTGGTAAGCGGCTCCTAAAG	C	T47800287A	MSH6	NM_000179.3(MSH6):c.2304_2326del:p.Phe769fs	coding	Pathogenic
2	47800290	TGGTA	T	G47800291A	MSH6	NM_000179.3(MSH6):c.2308_2311del:p.Gly770fs	coding	Pathogenic
2	47800295	AGCGGCTC	A	G47800296C	MSH6	NM_000179.3(MSH6):c.2313_2319del:p.Lys771fs	coding	Pathogenic
2	47800304	T	TA	G47800308A	MSH6	NM_000179.3(MSH6):c.2324dup:p.Gln776fs	coding	Pathogenic
2	47800309	CAATGGCTTTG	C	A47800310T	MSH6	NM_000179.3(MSH6):c.2327_2336del:p.Gln776fs	coding	Pathogenic
2	47800309	CA	C	A47800311T	MSH6	NM_000179.3(MSH6):c.2328del:p.Gln776fs	coding	Pathogenic
2	47800315	C	CT	G47800319T	MSH6	NM_000179.3(MSH6):c.2335dup:p.Cys779fs	coding	Pathogenic
2	47800321	G	GC	A47800326C	MSH6	NM_000179.3(MSH6):c.2342dup:p.Leu782fs	coding	Pathogenic
2	47800392	CAA	C	A47800395T	MSH6	NM_000179.3(MSH6):c.2412_2413del:p.Lys804fs	coding	Pathogenic
2	47800392	C	CA	T47800397A	MSH6	NM_000179.3(MSH6):c.2413dup:p.Ile805fs	coding	Pathogenic
2	47800399	TC	T	C47800401G	MSH6	NM_000179.3(MSH6):c.2418del:p.Glu807fs	coding	Pathogenic
2	47800407	TGTAGAGCTTCTAAAGAAGCTTCCAG	T	G47800408A	MSH6	NM_000179.3(MSH6):c.2425_2449del:p.Val809fs	coding	Pathogenic
2	47800445	T	TA	C47800447A	MSH6	NM_000179.3(MSH6):c.2463dup:p.Leu822fs	coding	Pathogenic
2	47800455	AATTC	A	T47800458A	MSH6	NM_000179.3(MSH6):c.2475_2478del:p.His826fs	coding	Pathogenic
2	47800463	AT	A	T47800464G	MSH6	NM_000179.3(MSH6):c.2481del:p.Asn827fs	coding	Pathogenic
2	47800491	CCA	C	A47800493C	MSH6	NM_000179.3(MSH6):c.2510_2511del:p.His837fs	coding	Pathogenic
2	47800508	CTA	C	T47800511A	MSH6	NM_000179.3(MSH6):c.2528_2529del:p.Ile843fs	coding	Pathogenic
2	47800509	T	TA	T47800511A	MSH6	NM_000179.3(MSH6):c.2527dup:p.Ile843fs	coding	Pathogenic
2	47800510	ATAATG	A	A47800513T	MSH6	NM_000179.3(MSH6):c.2530_2534del:p.Ile843_Met844insTer	coding	Pathogenic
2	47800546	AT	A	T47800548A	MSH6	NM_000179.3(MSH6):c.2565del:p.Ile856fs	coding	Pathogenic
2	47800546	ATTAT	A	T47800548G	MSH6	NM_000179.3(MSH6):c.2565_2568del:p.Ile855fs	coding	Pathogenic
2	47800551	TG	T	G47800552A	MSH6	NM_000179.3(MSH6):c.2569del:p.Asp857fs	coding	Pathogenic
2	47800553	AT	A	T47800557C	MSH6	NM_000179.3(MSH6):c.2574del:p.Leu859fs	coding	Pathogenic
2	47800578	CAAAGT	C	A47800581T	MSH6	NM_000179.3(MSH6):c.2598_2602del:p.Lys866fs	coding	Pathogenic
2	47800581	AGTAATGT	A	T47800586A	MSH6	NM_000179.3(MSH6):c.2603_2609del:p.Met868fs	coding	Pathogenic
2	47800582	GT	G	T47800583A	MSH6	NM_000179.3(MSH6):c.2600del:p.Val867fs	coding	Pathogenic
2	47800583	TA	T	A47800585T	MSH6	NM_000179.3(MSH6):c.2602del:p.Met868fs	coding	Pathogenic/Likely_pathogenic
2	47800594	AT	A	T47800596A	MSH6	NM_000179.3(MSH6):c.2613del:p.Ile871_Ile872insTer	coding	Pathogenic
2	47800599	AG	A	G47800602A	MSH6	NM_000179.3(MSH6):c.2619del:p.Ile874fs	coding	Pathogenic
2	47800623	TG	T	G47800625T	MSH6	NM_000179.3(MSH6):c.2642del:p.Gly881fs	coding	Pathogenic
2	47800625	GT	G	T47800629A	MSH6	NM_000179.3(MSH6):c.2646del:p.Phe882fs	coding	Pathogenic
2	47800635	TA	T	A47800639T	MSH6	NM_000179.3(MSH6):c.2656del:p.Ile886fs	coding	Pathogenic
2	47800654	ATCTC	A	C47800658G	MSH6	NM_000179.3(MSH6):c.2675_2678del:p.Ser892fs	coding	Pathogenic
2	47800667	CA	C	A47800673T	MSH6	NM_000179.3(MSH6):c.2690del:p.Asn897fs	coding	Pathogenic
2	47800683	T	TC	G47800685C	MSH6	NM_000179.3(MSH6):c.2701dup:p.Arg901fs	coding	Pathogenic
2	47800685	GT	G	T47800689C	MSH6	NM_000179.3(MSH6):c.2706del:p.Pro903fs	coding	Pathogenic
2	47800712	AC	A	C47800714G	MSH6	NM_000179.3(MSH6):c.2731del:p.Arg911fs	coding	Pathogenic
2	47800720	GA	G	A47800721T	MSH6	NM_000179.3(MSH6):c.2738del:p.Asp913fs	coding	Pathogenic
2	47800721	A	AT	A47800723T	MSH6	NM_000179.3(MSH6):c.2739dup:p.Thr914fs	coding	Pathogenic
2	47800726	GC	G	C47800728T	MSH6	NM_000179.3(MSH6):c.2745del:p.Phe916fs	coding	Pathogenic
2	47800748	GA	G	A47800751G	MSH6	NM_000179.3(MSH6):c.2768del:p.Lys923fs	coding	Pathogenic
2	47800761	TA	T	A47800762T	MSH6	NM_000179.3(MSH6):c.2779del:p.Ile927fs	coding	Pathogenic
2	47800761	TATTACTCCCAAAGC	T	T47800763G	MSH6	NM_000179.3(MSH6):c.2780_2793del:p.Ile927fs	coding	Pathogenic
2	47800763	T	TTA	C47800766T	MSH6	NM_000179.3(MSH6):c.2781_2782dup:p.Thr928fs	coding	Pathogenic
2	47800778	GC	G	C47800779T	MSH6	NM_000179.3(MSH6):c.2796del:p.Phe933fs	coding	Pathogenic
2	47800779	C	CT	G47800783T	MSH6	NM_000179.3(MSH6):c.2799dup:p.Asp934Ter	coding	Pathogenic
2	47800782	T	TG	A47800784G	MSH6	NM_000179.3(MSH6):c.2800dup:p.Asp934fs	coding	Pathogenic
2	47800787	CTGAT	C	G47800789A	MSH6	NM_000179.3(MSH6):c.2806_2809del:p.Asp936fs	coding	Pathogenic
2	47800788	TGA	CC	T47800788C	MSH6	NM_000179.3(MSH6):c.2805_2807delinsCC:p.Asp936fs	coding	Pathogenic
2	47800795	GAC	TAA	G47800795T	MSH6	NM_000179.3(MSH6):c.2812_2814delinsTAA:p.Asp938Ter	coding	Pathogenic
2	47800812	CATAAG	C	T47800814G	MSH6	NM_000179.3(MSH6):c.2831_2835del:p.Ile944fs	coding	Pathogenic
2	47800812	CAT	C	T47800814A	MSH6	NM_000179.3(MSH6):c.2831_2832del:p.Ile944fs	coding	Pathogenic
2	47800813	A	AT	A47800815T	MSH6	NM_000179.3(MSH6):c.2831dup:p.Arg945fs	coding	Pathogenic
2	47800813	AT	A	T47800814A	MSH6	NM_000179.3(MSH6):c.2831del:p.Ile944fs	coding	Pathogenic
2	47800815	AAG	A	G47800819A	MSH6	NM_000179.3(MSH6):c.2836_2837del:p.Glu946fs	coding	Pathogenic
2	47800818	AG	A	G47800819A	MSH6	NM_000179.3(MSH6):c.2836del:p.Glu946fs	coding	Pathogenic
2	47800838	TG	T	G47800840A	MSH6	NM_000179.3(MSH6):c.2857del:p.Glu953fs	coding	Pathogenic
2	47800859	G	GC	A47800861C	MSH6	NM_000179.3(MSH6):c.2877dup:p.Asn960fs	coding	Pathogenic
2	47800860	CA	C	A47800862C	MSH6	NM_000179.3(MSH6):c.2879del:p.Asn960fs	coding	Pathogenic
2	47800860	C	CA	C47800863A	MSH6	NM_000179.3(MSH6):c.2879dup:p.Asn960fs	coding	Pathogenic
2	47800874	G	GT	A47800876T	MSH6	NM_000179.3(MSH6):c.2892dup:p.Arg965Ter	coding	Pathogenic
2	47800879	A	ACC	A47800882C	MSH6	NM_000179.3(MSH6):c.2897_2898dup:p.Ile967fs	coding	Pathogenic
2	47800897	A	AT	G47800900T	MSH6	NM_000179.3(MSH6):c.2916dup:p.Gly973fs	coding	Pathogenic
2	47800897	AT	A	T47800899G	MSH6	NM_000179.3(MSH6):c.2916del:p.Ile972fs	coding	Pathogenic
2	47800911	TTACCAGC	T	A47800913G	MSH6	NM_000179.3(MSH6):c.2930_2936del:p.Tyr977fs	coding	Pathogenic
2	47800915	CA	C	A47800916G	MSH6	NM_000179.3(MSH6):c.2933del:p.Gln978fs	coding	Pathogenic
2	47800919	TG	T	G47800921A	MSH6	NM_000179.3(MSH6):c.2938del:p.Glu980fs	coding	Pathogenic
2	47800921	G	GAA	T47800925A	MSH6	NM_000179.3(MSH6):c.2940_2941dup:p.Ile981fs	coding	Pathogenic
2	47800924	AT	A	T47800926C	MSH6	NM_000179.3(MSH6):c.2943del:p.Pro982fs	coding	Pathogenic
2	47800948	A	AG	A47800949G	MSH6	NM_000179.3(MSH6):c.2965_2966insG:p.Asn989fs	coding	Pathogenic
2	47800980	CA	C	A47800982G	MSH6	NM_000179.3(MSH6):c.2999del:p.Lys1000fs	coding	Pathogenic
2	47801025	GT	G	T47801027G	MSH6	NM_000179.3(MSH6):c.3044del:p.Leu1015fs	coding	Pathogenic
2	47801031	TA	T	A47801033T	MSH6	NM_000179.3(MSH6):c.3050del:p.Asn1017fs	coding	Pathogenic
2	47801037	CAT	C	T47801039A	MSH6	NM_000179.3(MSH6):c.3056_3057del:p.Ile1019fs	coding	Pathogenic
2	47801046	TG	T	G47801047A	MSH6	NM_000179.3(MSH6):c.3064del:p.Glu1022fs	coding	Pathogenic
2	47801061	T	TG	T47801063G	MSH6	NM_000179.3(MSH6):c.3079dup:p.Val1027fs	coding	Pathogenic
2	47801094	C	CTA	A47801099T	MSH6	NM_000179.3(MSH6):c.3114_3115dup:p.Asn1039fs	coding	Pathogenic
2	47801094	CTA	C	T47801097A	MSH6	NM_000179.3(MSH6):c.3114_3115del:p.Tyr1038_Asn1039delinsTer	coding	Pathogenic
2	47801106	TA	T	A47801111T	MSH6	NM_000179.3(MSH6):c.3128del:p.Asn1043fs	coding	Pathogenic
2	47801111	A	CC	A47801111C	MSH6	NM_000179.3(MSH6):c.3128delinsCC:p.Asn1043fs	coding	Pathogenic
2	47801112	T	TA	T47801113A	MSH6	NM_000179.3(MSH6):c.3129_3130insA:p.Tyr1044fs	coding	Pathogenic
2	47801115	CA	C	A47801117G	MSH6	NM_000179.3(MSH6):c.3134del:p.Lys1045fs	coding	Pathogenic
2	47801138	AGT	A	G47801141A	MSH6	NM_000179.3(MSH6):c.3158_3159del:p.Cys1053fs	coding	Pathogenic
2	47801141	G	GTC	A47801143C	MSH6	NM_000179.3(MSH6):c.3159_3160insCT:p.Ile1054fs	coding	Pathogenic
2	47801156	GT	G	T47801157A	MSH6	NM_000179.3(MSH6):c.3172+2del	coding	Pathogenic
2	47803420	ATGTTTTAC	A	T47803424G	MSH6	NM_000179.3(MSH6):c.3177_3184del:p.Leu1060fs	coding	Pathogenic
2	47803422	GT	G	T47803426A	MSH6	NM_000179.3(MSH6):c.3179del:p.Leu1060fs	coding	Pathogenic
2	47803435	TG	T	G47803437C	MSH6	NM_000179.3(MSH6):c.3190del:p.Ala1064fs	coding	Pathogenic
2	47803437	GCTAA	G	A47803441T	MSH6	NM_000179.3(MSH6):c.3194_3197del:p.Asn1065fs	coding	Pathogenic
2	47803440	AACTAT	A	C47803442G	MSH6	NM_000179.3(MSH6):c.3195_3199del:p.Asn1065fs	coding	Pathogenic
2	47803444	A	ATAGTCGAGGGGGTGATGGTCCTATGTGTCGCC	C47803477T	MSH6	NM_000179.3(MSH6):c.3198_3229dup:p.Pro1077fs	coding	Pathogenic
2	47803458	GATGGTCCT	G	G47803462T	MSH6	NM_000179.3(MSH6):c.3215_3222del:p.Gly1072fs	coding	Pathogenic/Likely_pathogenic
2	47803461	GGTCCTATGTGTCGCCCAGTAATTCT	G	C47803464T	MSH6	NM_000179.3(MSH6):c.3217_3241del:p.Pro1073fs	coding	Pathogenic
2	47803463	TC	T	C47803465T	MSH6	NM_000179.3(MSH6):c.3218del:p.Pro1073fs	coding	Pathogenic
2	47803467	ATG	A	G47803471C	MSH6	NM_000179.3(MSH6):c.3224_3225del:p.Cys1075fs	coding	Pathogenic
2	47803493	GGA	G	G47803494A	MSH6	NM_000179.3(MSH6):c.3247_3248del:p.Glu1083fs	coding	Pathogenic
2	47803500	ACC	A	C47803507T	MSH6	NM_000179.3(MSH6):c.3260_3261del:p.Pro1087fs	coding	Pathogenic
2	47803507	C	CT	C47803508T	MSH6	NM_000179.3(MSH6):c.3260_3261insT:p.Phe1088fs	coding	Pathogenic
2	47803508	CT	C	T47803510C	MSH6	NM_000179.3(MSH6):c.3263del:p.Phe1088fs	coding	Pathogenic
2	47803508	CTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGAC	TTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACT	C47803508T	MSH6	NM_000179.3(MSH6):c.3261_3305delinsTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACT:p.Phe1088_Thr1102delinsSerTer	coding	Pathogenic
2	47803511	C	CTTAGAGCT	A47803521T	MSH6	NM_000179.3(MSH6):c.3266_3273dup:p.Lys1092Ter	coding	Pathogenic
2	47803512	TTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACT	CTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGAC	T47803512C	MSH6	NM_000179.3(MSH6):c.3265_3306delinsCTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGAC:p.Glu1090_Thr1102delinsLeuArgAlaTer	coding	Pathogenic
2	47803520	T	TAAAG	G47803525A	MSH6	NM_000179.3(MSH6):c.3274_3277dup:p.Gly1093fs	coding	Pathogenic
2	47803523	AG	A	G47803525A	MSH6	NM_000179.3(MSH6):c.3278del:p.Gly1093fs	coding	Pathogenic
2	47803523	AGGATC	GAAGCTCTAAGA	A47803523G	MSH6	NM_000179.3(MSH6):c.3276_3281delinsGAAGCTCTAAGA:p.Gly1093_Ser1094delinsLysLeuTer	coding	Pathogenic
2	47803527	T	TCACG	C47803533A	MSH6	NM_000179.3(MSH6):c.3282_3285dup:p.His1096fs	coding	Pathogenic
2	47803542	A	AT	A47803545T	MSH6	NM_000179.3(MSH6):c.3297dup:p.Thr1100fs	coding	Pathogenic
2	47803545	ACG	A	C47803546A	MSH6	NM_000179.3(MSH6):c.3299_3300del:p.Thr1100fs	coding	Pathogenic
2	47803546	C	CGAAGACTTTTTTTGGAGATGATTTTATTCCTAATGACATTCTAATAGGCTGT	G47803601A	MSH6	NM_000179.3(MSH6):c.3302_3353dup:p.Glu1118_Glu1119insAspPhePheTrpArgTer	coding	Pathogenic
2	47803558	T	TTGGAGATGATTTTATTCCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGTCGGGGGGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC	A47803578T	MSH6	NM_000179.3(MSH6):c.3330_3331insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGTCGGGGGGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTGGAGATGATTTTATTCCT:p.Asn1111delinsPhePhePhePhePhePheXaaXaaXaaXaaProValGlyGlyAlaGlyLeuAlaGluGlyLeuLeuThrSerGlnTer	coding	Pathogenic
2	47803583	CA	C	A47803584T	MSH6	NM_000179.3(MSH6):c.3337del:p.Ile1113fs	coding	Pathogenic
2	47803600	AG	A	G47803602A	MSH6	NM_000179.3(MSH6):c.3355del:p.Glu1119fs	coding	Pathogenic
2	47803612	A	ATT	G47803613T	MSH6	NM_000179.3(MSH6):c.3365_3366insTT:p.Gln1122fs	coding	Pathogenic
2	47803612	AG	A	G47803614A	MSH6	NM_000179.3(MSH6):c.3367del:p.Glu1123fs	coding	Pathogenic
2	47803622	C	CA	G47803626A	MSH6	NM_000179.3(MSH6):c.3378dup:p.Ala1127fs	coding	Pathogenic
2	47803631	TTG	T	T47803636C	MSH6	NM_000179.3(MSH6):c.3389_3390del:p.Val1130fs	coding	Pathogenic
2	47803638	CT	C	T47803640G	MSH6	NM_000179.3(MSH6):c.3393del:p.Val1132fs	coding	Pathogenic
2	47803643	T	TA	C47803645A	MSH6	NM_000179.3(MSH6):c.3397dup:p.Thr1133fs	coding	Pathogenic
2	47803645	C	CGT	T47803646G	MSH6	NM_000179.3(MSH6):c.3398_3399insGT:p.Gly1134fs	coding	Pathogenic
2	47803650	CCAAATAT	C	C47803651G	MSH6	NM_000179.3(MSH6):c.3404_3410del:p.Pro1135fs	coding	Pathogenic
2	47803656	AT	A	T47803657G	MSH6	NM_000179.3(MSH6):c.3410del:p.Met1137fs	coding	Pathogenic
2	47803662	GG	T	G47803662T	MSH6	NM_000179.3(MSH6):c.3415_3416delinsT:p.Gly1139fs	coding	Pathogenic
2	47803670	TA	T	A47803671C	MSH6	NM_000179.3(MSH6):c.3424del:p.Thr1142fs	coding	Pathogenic
2	47803695	TCTTA	T	C47803696A	MSH6	NM_000179.3(MSH6):c.3438+11_3438+14del	noncoding	Benign/Likely_benign
2	47804907	CAGGCTGGCTTATTAGCTGTAATGGCCCAGATGGGTTGTTACGTCCCTGCTGAAGTGTGCAGGCTCACACCAATTGATAGAGTGTTTACTAGACTTGGTGCCTCAGACAGAATAATGTCAGG	C	A47804908T	MSH6	NM_000179.3(MSH6):c.3439-2_3556+1del	noncoding	Pathogenic
2	47804920	T	TA	G47804922A	MSH6	NM_000179.3(MSH6):c.3450dup:p.Ala1151fs	coding	Pathogenic
2	47804933	C	CCAGATGGGTTGTTA	G47804949A	MSH6	NM_000179.3(MSH6):c.3464_3477dup:p.Val1160fs	coding	Pathogenic
2	47804944	G	GT	A47804947T	MSH6	NM_000179.3(MSH6):c.3475dup:p.Tyr1159fs	coding	Pathogenic
2	47804944	GTTA	CT	G47804944C	MSH6	NM_000179.3(MSH6):c.3473_3476delinsCT:p.Cys1158fs	coding	Pathogenic
2	47804946	TA	T	A47804947C	MSH6	NM_000179.3(MSH6):c.3476del:p.Tyr1159fs	coding	Pathogenic
2	47804956	C	CT	G47804958T	MSH6	NM_000179.3(MSH6):c.3486dup:p.Glu1163Ter	coding	Pathogenic
2	47804957	TG	T	G47804958A	MSH6	NM_000179.3(MSH6):c.3487del:p.Glu1163fs	coding	Pathogenic
2	47804958	GA	G	A47804960G	MSH6	NM_000179.3(MSH6):c.3489del:p.Val1164fs	coding	Pathogenic
2	47804958	G	GT	A47804959T	MSH6	NM_000179.3(MSH6):c.3487_3488insT:p.Glu1163fs	coding	Pathogenic
2	47804962	T	TA	G47804963A	MSH6	NM_000179.3(MSH6):c.3491_3492insA:p.Cys1165fs	coding	Pathogenic
2	47804965	GC	G	C47804966A	MSH6	NM_000179.3(MSH6):c.3495del:p.Val1164_Cys1165insTer	coding	Pathogenic
2	47804966	C	CAG	G47804969A	MSH6	NM_000179.3(MSH6):c.3496_3497dup:p.Leu1167fs	coding	Pathogenic
2	47804969	G	GCTCAC	A47804975C	MSH6	NM_000179.3(MSH6):c.3499_3503dup:p.Pro1169fs	coding	Pathogenic
2	47804974	CACCAATTGATAGAGTGTTT	C	C47804977T	MSH6	NM_000179.3(MSH6):c.3506_3524del:p.Pro1169fs	coding	Pathogenic
2	47804978	A	AATTG	A47804985T	MSH6	NM_000179.3(MSH6):c.3510_3513dup:p.Arg1172Ter	coding	Pathogenic
2	47804978	AAT	A	A47804979T	MSH6	NM_000179.3(MSH6):c.3508_3509del:p.Pro1169_Ile1170insTer	coding	Pathogenic
2	47804978	AATTG	A	T47804981A	MSH6	NM_000179.3(MSH6):c.3510_3513del:p.Asp1171fs	coding	Pathogenic
2	47804982	G	GAT	G47804986T	MSH6	NM_000179.3(MSH6):c.3513_3514dup:p.Arg1172fs	coding	Pathogenic
2	47804984	T	TAGTGTTTACTAGAC	A47804987T	MSH6	NM_000179.3(MSH6):c.3515_3516insTGTTTACTAGACAG:p.Arg1172delinsSerValTyrTer	coding	Pathogenic
2	47804985	AGAGTGTTTACTAGACTTGGTGCCTCA	TGAGGCACCAAGTCTAGTAAACACTCT	A47804985T	MSH6	NM_000179.3(MSH6):c.3514_3540inv:p.Arg1172_Ser1180delinsTer	coding	Pathogenic
2	47804987	AGT	A	G47804990T	MSH6	NM_000179.3(MSH6):c.3519_3520del:p.Phe1174fs	coding	Pathogenic
2	47804994	ACT	A	C47804995A	MSH6	NM_000179.3(MSH6):c.3524_3525del:p.Thr1175fs	coding	Pathogenic
2	47804994	ACTAGACTTGGTGC	A	A47804997C	MSH6	NM_000179.3(MSH6):c.3526_3538del:p.Arg1176fs	coding	Pathogenic
2	47804995	C	CCTCAGACAATTGA	T47804996C	MSH6	NM_000179.3(MSH6):c.3524_3525insCTCAGACAATTGA:p.Thr1175_Arg1176insSerAspAsnTer	coding	Pathogenic
2	47804995	CT	C	T47804996A	MSH6	NM_000179.3(MSH6):c.3525del:p.Arg1176fs	coding	Pathogenic
2	47804997	AGACTTGGT	A	A47804999C	MSH6	NM_000179.3(MSH6):c.3528_3535del:p.Arg1176fs	coding	Pathogenic
2	47804999	ACTTGGTGC	A	T47805002C	MSH6	NM_000179.3(MSH6):c.3531_3538del:p.Gly1178fs	coding	Pathogenic
2	47805002	TG	T	G47805004T	MSH6	NM_000179.3(MSH6):c.3533del:p.Gly1178fs	coding	Pathogenic
2	47805010	C	CA	G47805012A	MSH6	NM_000179.3(MSH6):c.3540dup:p.Asp1181fs	coding	Pathogenic
2	47805014	CAG	C	G47805016A	MSH6	NM_000179.3(MSH6):c.3545_3546del:p.Arg1182fs	coding	Pathogenic
2	47805022	TGTCAG	T	C47805025G	MSH6	NM_000179.3(MSH6):c.3554_3556+2del	coding	Pathogenic
2	47805030	GAGTTT	G	A47805031T	MSH6	NM_000179.3(MSH6):c.3556+4_3556+8del	noncoding	Pathogenic/Likely_pathogenic
2	47805032	G	GT	G47805039T	MSH6	NM_000179.3(MSH6):c.3556+11dup	noncoding	Benign/Likely_benign
2	47805601	A	ATT	A47805615T	MSH6	NM_000179.3(MSH6):c.3557-5_3557-4dup	noncoding	Benign
2	47805612	TTTAAGGTGAAAGTACA	AAGGTGAAAGTACAT	T47805612A	MSH6	NM_000179.3(MSH6):c.3557-6_3567delinsAAGGTGAAAGTACAT	noncoding	Pathogenic
2	47805619	TGAAA	T	A47805621T	MSH6	NM_000179.3(MSH6):c.3560_3563del:p.Glu1187fs	coding	Pathogenic
2	47805619	TG	T	G47805620A	MSH6	NM_000179.3(MSH6):c.3559del:p.Glu1187fs	coding	Pathogenic
2	47805620	G	GA	G47805624A	MSH6	NM_000179.3(MSH6):c.3562dup:p.Ser1188fs	coding	Pathogenic
2	47805627	C	CA	T47805629A	MSH6	NM_000179.3(MSH6):c.3567dup:p.Phe1190fs	coding	Pathogenic
2	47805647	GA	G	A47805650C	MSH6	NM_000179.3(MSH6):c.3589del:p.Thr1197fs	coding	Pathogenic
2	47805660	TAC	T	A47805661T	MSH6	NM_000179.3(MSH6):c.3600_3601del:p.Leu1201fs	coding	Pathogenic
2	47805660	T	TA	C47805662A	MSH6	NM_000179.3(MSH6):c.3600dup:p.Leu1201fs	coding	Pathogenic
2	47805669	AT	A	T47805670G	MSH6	NM_000179.3(MSH6):c.3609del:p.His1203fs	coding	Pathogenic
2	47805671	GC	G	C47805672A	MSH6	NM_000179.3(MSH6):c.3611del:p.Ala1204fs	coding	Pathogenic
2	47805675	C	CA	G47805677A	MSH6	NM_000179.3(MSH6):c.3615dup:p.Ala1206fs	coding	Pathogenic
2	47805681	AT	A	T47805683C	MSH6	NM_000179.3(MSH6):c.3622del:p.Ser1208fs	coding	Pathogenic
2	47805682	TTC	T	C47805686G	MSH6	NM_000179.3(MSH6):c.3625_3626del:p.Leu1209fs	coding	Pathogenic
2	47805686	CTG	C	T47805687G	MSH6	NM_000179.3(MSH6):c.3626_3627del:p.Leu1209fs	coding	Pathogenic/Likely_pathogenic
2	47805689	GT	TA	G47805689T	MSH6	NM_000179.3(MSH6):c.3628_3629delinsTA:p.Val1210Ter	coding	Pathogenic
2	47805692	CTTGTGGATGAA	C	G47805695A	MSH6	NM_000179.3(MSH6):c.3634_3644del:p.Val1212fs	coding	Pathogenic
2	47805696	TG	T	G47805698A	MSH6	NM_000179.3(MSH6):c.3637del:p.Asp1213fs	coding	Pathogenic
2	47805701	GA	G	A47805703T	MSH6	NM_000179.3(MSH6):c.3642del:p.Glu1214fs	coding	Pathogenic
2	47805708	G	GTC	A47805710C	MSH6	NM_000179.3(MSH6):c.3646+2_3646+3insCT	coding	Pathogenic
2	47805708	GTAAGACATTAAACTTCTCATTTGAAGACT	TCTC	G47805708T	MSH6	NM_000179.3(MSH6):c.3646+1_3646+30delinsTCTC	coding	Pathogenic
2	47805741	TATC	T	A47805742T	MSH6	NM_000179.3(MSH6):c.3646+35_3646+37del	noncoding	Benign
2	47806189	A	AT	A47806194T	MSH6	NM_000179.3(MSH6):c.3647-11dup	noncoding	Benign/Likely_benign
2	47806199	AACAGGAAGAGGTACTGCAACATTTGATGGGACGGCAATAGCAAATGCAGTTGTTAAAGAACTTGCTGAGACTATAAAATGTCGTACATTATTTTCAACTCACTACCATTCATTAGTAGAAGATTATTCTCAAAATGTTGCTGTGCGCCTAGGACATATGGTATGTGCAAATTGTTTTTTTCCACAAATTCGGTTTTTTGAGAGGGCACTTCTCTTGCTAGCACATGTATCGCTAATATTTTTCTTTCTTAAGGCATGCATGGTAGAAAATGAATGTGAAGACCCCAGCCAGGAGACTATTACGTTCCTCTATAAATTCATTAAGGGAGCTTGTCCTAAAAGCTATGGCTTTAATGCAGCAAGGCTTGCTAATCTCCCAGAGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATGAATCAGTCACT	A	A47806202G	MSH6	NM_000179.3(MSH6):c.3647-2_3991del	noncoding	Pathogenic
2	47806204	GAAGAGGT	G	A47806206C	MSH6	NM_000179.3(MSH6):c.3649_3655del:p.Arg1217fs	coding	Pathogenic
2	47806208	A	AG	T47806211G	MSH6	NM_000179.3(MSH6):c.3653dup:p.Thr1219fs	coding	Pathogenic
2	47806226	TG	T	G47806229A	MSH6	NM_000179.3(MSH6):c.3672del:p.Thr1225fs	coding	Pathogenic
2	47806229	GACGGCAATAGCAAATGC	G	C47806231G	MSH6	NM_000179.3(MSH6):c.3674_3690del:p.Thr1225fs	coding	Pathogenic
2	47806239	G	GC	A47806241C	MSH6	NM_000179.3(MSH6):c.3683dup:p.Asn1229fs	coding	Pathogenic
2	47806249	T	TTG	T47806253G	MSH6	NM_000179.3(MSH6):c.3694_3695dup:p.Lys1233fs	coding	Pathogenic
2	47806250	T	TGTTA	A47806255G	MSH6	NM_000179.3(MSH6):c.3694_3697dup:p.Lys1233delinsSerTer	coding	Pathogenic
2	47806250	T	TTAA	G47806251T	MSH6	NM_000179.3(MSH6):c.3693_3694insTAA:p.Val1232Ter	coding	Pathogenic
2	47806253	T	TAG	A47806255G	MSH6	NM_000179.3(MSH6):c.3697_3698insGA:p.Lys1233fs	coding	Pathogenic
2	47806265	TGA	T	G47806268C	MSH6	NM_000179.3(MSH6):c.3711_3712del:p.Glu1237fs	coding	Pathogenic
2	47806265	T	TGAGA	C47806270G	MSH6	NM_000179.3(MSH6):c.3709_3712dup:p.Thr1238fs	coding	Pathogenic
2	47806266	G	GC	A47806267C	MSH6	NM_000179.3(MSH6):c.3709_3710insC:p.Glu1237fs	coding	Pathogenic
2	47806270	CTATAAAATGTCGTACAT	C	A47806274T	MSH6	NM_000179.3(MSH6):c.3717_3733del:p.Lys1240fs	coding	Pathogenic
2	47806273	TA	T	A47806277T	MSH6	NM_000179.3(MSH6):c.3720del:p.Lys1240fs	coding	Pathogenic
2	47806273	T	TA	T47806278A	MSH6	NM_000179.3(MSH6):c.3720dup:p.Cys1241fs	coding	Pathogenic
2	47806276	A	AT	A47806277T	MSH6	NM_000179.3(MSH6):c.3719_3720insT:p.Lys1240fs	coding	Pathogenic
2	47806292	T	TTCAAC	C47806301A	MSH6	NM_000179.3(MSH6):c.3739_3743dup:p.His1248fs	coding	Pathogenic
2	47806294	CA	C	A47806296C	MSH6	NM_000179.3(MSH6):c.3739del:p.Thr1247fs	coding	Pathogenic
2	47806296	ACTCACTACCATTCATTAGTAGAAGATTATT	A	C47806301A	MSH6	NM_000179.3(MSH6):c.3744_3773del:p.His1248_Ser1257del	coding	Pathogenic/Likely_pathogenic
2	47806300	ACTAC	A	T47806302A	MSH6	NM_000179.3(MSH6):c.3745_3748del:p.Tyr1249fs	coding	Pathogenic
2	47806304	CCATT	C	C47806309A	MSH6	NM_000179.3(MSH6):c.3752_3755del:p.His1250_Ser1251insTer	coding	Pathogenic
2	47806309	CATTAGT	TG	C47806309T	MSH6	NM_000179.3(MSH6):c.3752_3758delinsTG:p.Ser1251fs	coding	Pathogenic
2	47806314	GTAGAAGATTATTCTCAAAA	G	A47806316G	MSH6	NM_000179.3(MSH6):c.3759_3777del:p.Glu1254fs	coding	Pathogenic
2	47806315	TAG	T	G47806317A	MSH6	NM_000179.3(MSH6):c.3760_3761del:p.Glu1254fs	coding	Pathogenic
2	47806344	C	CG	C47806346G	MSH6	NM_000179.3(MSH6):c.3788dup:p.Leu1264fs	coding	Pathogenic
2	47806354	ATATGG	A	G47806359T	MSH6	NM_000179.3(MSH6):c.3801+1_3801+5del	coding	Pathogenic/Likely_pathogenic
2	47806372	G	GT	C47806380T	MSH6	NM_000179.3(MSH6):c.3801+21dup	noncoding	Benign/Likely_benign
2	47806465	A	AAAAT	G47806470A	MSH6	NM_000179.3(MSH6):c.3816_3819dup:p.Glu1274delinsLysTer	coding	Pathogenic
2	47806465	A	AT	A47806466T	MSH6	NM_000179.3(MSH6):c.3815_3816insT:p.Glu1272fs	coding	Pathogenic/Likely_pathogenic
2	47806470	G	GA	T47806473A	MSH6	NM_000179.3(MSH6):c.3822dup:p.Cys1275fs	coding	Pathogenic
2	47806473	TGTGAAGAC	T	G47806474C	MSH6	NM_000179.3(MSH6):c.3824_3831del:p.Cys1275fs	coding	Pathogenic
2	47806480	AC	A	C47806484A	MSH6	NM_000179.3(MSH6):c.3834del:p.Ser1279fs	coding	Pathogenic
2	47806494	AC	A	C47806495T	MSH6	NM_000179.3(MSH6):c.3845del:p.Thr1282fs	coding	Pathogenic
2	47806495	C	CTA	T47806499A	MSH6	NM_000179.3(MSH6):c.3847_3848dup:p.Thr1284fs	coding	Pathogenic
2	47806495	CTA	C	A47806497T	MSH6	NM_000179.3(MSH6):c.3847_3848del:p.Ile1283fs	coding	Pathogenic
2	47806498	T	TTACG	T47806504A	MSH6	NM_000179.3(MSH6):c.3850_3853dup:p.Phe1285fs	coding	Pathogenic
2	47806499	TAC	AA	T47806499A	MSH6	NM_000179.3(MSH6):c.3849_3851delinsAA:p.Thr1284fs	coding	Pathogenic
2	47806499	TAC	AGGAACGTAA	T47806499A	MSH6	NM_000179.3(MSH6):c.3849_3851delinsAGGAACGTAA:p.Thr1284delinsGlyThrTer	coding	Pathogenic
2	47806500	AC	A	C47806501G	MSH6	NM_000179.3(MSH6):c.3851del:p.Thr1284fs	coding	Pathogenic
2	47806505	CCTCT	C	C47806506A	MSH6	NM_000179.3(MSH6):c.3856_3859del:p.Leu1286fs	coding	Pathogenic
2	47806508	CTA	C	T47806511A	MSH6	NM_000179.3(MSH6):c.3861_3862del:p.Tyr1287_Lys1288delinsTer	coding	Pathogenic
2	47806509	T	TATAAATTCATTAAG	G47806524A	MSH6	NM_000179.3(MSH6):c.3860_3873dup:p.Gly1292fs	coding	Pathogenic
2	47806509	T	TATAA	T47806516A	MSH6	NM_000179.3(MSH6):c.3862_3865dup:p.Phe1289Ter	coding	Pathogenic
2	47806510	A	AT	A47806512T	MSH6	NM_000179.3(MSH6):c.3861dup:p.Lys1288Ter	coding	Pathogenic
2	47806512	AAA	TACG	A47806512T	MSH6	NM_000179.3(MSH6):c.3862_3864delinsTACG:p.Lys1288fs	coding	Pathogenic
2	47806514	A	ATTCAT	A47806521T	MSH6	NM_000179.3(MSH6):c.3866_3870dup:p.Lys1291fs	coding	Pathogenic
2	47806520	T	TAAGGGAGCTTGTCCTA	A47806539G	MSH6	NM_000179.3(MSH6):c.3873_3888dup:p.Ser1297delinsGlySerLeuSerTer	coding	Pathogenic
2	47806528	CT	C	T47806530G	MSH6	NM_000179.3(MSH6):c.3880del:p.Cys1294fs	coding	Pathogenic
2	47806530	TG	T	G47806531T	MSH6	NM_000179.3(MSH6):c.3881del:p.Cys1294fs	coding	Pathogenic
2	47806530	T	TG	T47806532G	MSH6	NM_000179.3(MSH6):c.3881dup:p.Cys1294fs	coding	Pathogenic
2	47806535	T	TAAAAGCTATGGCTTTAATGCAGCAAGGCTTGC	T47806568A	MSH6	NM_000179.3(MSH6):c.3886_3917dup:p.Asn1307fs	coding	Pathogenic
2	47806535	T	TA	G47806540A	MSH6	NM_000179.3(MSH6):c.3889dup:p.Ser1297fs	coding	Pathogenic
2	47806549	T	TTAATGCAGCAAGGCTTGCTAATCTCCCAGAGGAAGTTATTCAAAAG	G47806596T	MSH6	NM_000179.3(MSH6):c.3900_3945dup:p.Gly1316Ter	coding	Pathogenic/Likely_pathogenic
2	47806551	A	AATGCAGC	A47806560T	MSH6	NM_000179.3(MSH6):c.3903_3909dup:p.Arg1304fs	coding	Pathogenic
2	47806565	T	TGCTAATCTCCCAGAGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGA	A47806624G	MSH6	NM_000179.3(MSH6):c.3916_3973dup:p.Lys1325delinsSerTer	coding	Pathogenic
2	47806569	A	AAT	C47806572A	MSH6	NM_000179.3(MSH6):c.3920_3921dup:p.Leu1308fs	coding	Pathogenic
2	47806569	A	AATCT	C47806574A	MSH6	NM_000179.3(MSH6):c.3920_3923dup:p.Pro1309fs	coding	Pathogenic/Likely_pathogenic
2	47806576	C	CAGAGGAAGTTATT	C47806590A	MSH6	NM_000179.3(MSH6):c.3927_3939dup:p.Gln1314fs	coding	Pathogenic
2	47806590	C	CAAAAGGGACATAG	C47806609G	MSH6	NM_000179.3(MSH6):c.3946_3958dup:p.Ala1320delinsGlyThrTer	coding	Pathogenic
2	47806590	C	CAA	G47806595A	MSH6	NM_000179.3(MSH6):c.3943_3944dup:p.Gly1316fs	coding	Pathogenic
2	47806598	A	ACATAGAAAAGCAAGAGAATTTG	A47806621C	MSH6	NM_000179.3(MSH6):c.3949_3970dup:p.Glu1324delinsAlaTer	coding	Pathogenic
2	47806599	C	CATAGAAAAGCAAGAGAATTTGAGAAG	G47806628A	MSH6	NM_000179.3(MSH6):c.3952_3977dup:p.Met1326fs	coding	Pathogenic
2	47806609	C	CAAGAG	T47806617G	MSH6	NM_000179.3(MSH6):c.3962_3966dup:p.Phe1323fs	coding	Pathogenic
2	47806612	G	GAGAATTTGAGAAGATGA	T47806631G	MSH6	NM_000179.3(MSH6):c.3964_3980dup:p.Asn1327delinsLysAsnLeuArgArgTer	coding	Pathogenic
2	47806614	G	GAATTTGAGAAGATGAATCAGTC	C47806638A	MSH6	NM_000179.3(MSH6):c.3966_3987dup:p.Leu1330delinsIleTer	coding	Pathogenic
2	47806616	ATT	A	T47806618G	MSH6	NM_000179.3(MSH6):c.3968_3969del:p.Glu1322_Phe1323insTer	coding	Pathogenic
2	47806618	T	TTGAGAAGATGAATC	A47806633T	MSH6	NM_000179.3(MSH6):c.3969_3982dup:p.Gln1328delinsLeuArgArgTer	coding	Pathogenic
2	47806630	AT	TCAG	A47806630T	MSH6	NM_000179.3(MSH6):c.3980_3981delinsTCAG:p.Asn1327fs	coding	Pathogenic
2	47806632	C	CA	G47806634A	MSH6	NM_000179.3(MSH6):c.3983dup:p.Ser1329fs	coding	Pathogenic
2	47806653	T	TAACTA	C47806660A	MSH6	NM_000179.3(MSH6):c.4001+4_4001+8dup	noncoding	Benign/Likely_benign
2	47806660	C	CT	A47806662T	MSH6	NM_000179.3(MSH6):c.4001+10dup	noncoding	Benign/Likely_benign
2	47806751	CTTT	C	T47806767A	MSH6	NM_000179.3(MSH6):c.4002-12_4002-10del	noncoding	Benign/Likely_benign
2	47806752	T	TTC	T47806754C	MSH6	NM_000179.3(MSH6):c.4002-26_4002-25insCT	noncoding	Benign
2	47806771	A	AT	A47806776T	MSH6	NM_000179.3(MSH6):c.4002-4dup	noncoding	Benign
2	47808152	GGA	G	A47808154C	FBXO11	NM_001190274.2(FBXO11):c.2748_2749del:p.Pro917fs	coding	Pathogenic
2	47808156	CAG	C	A47808159T	FBXO11	NM_001190274.2(FBXO11):c.2744_2745del:p.Ser915fs	coding	Pathogenic
2	47808163	ATATAGTG	A	A47808167C	FBXO11	NM_001190274.2(FBXO11):c.2732_2738del:p.Thr911fs	coding	Pathogenic
2	47808345	ACT	A	C47808348A	FBXO11	NM_001190274.2(FBXO11):c.2636_2637del:p.Glu879fs	coding	Pathogenic
2	47808389	CAT	C	A47808392G	FBXO11	NM_001190274.2(FBXO11):c.2592_2593del:p.Ile864fs	coding	Pathogenic
2	47808410	GTGT	G	G47808412A	FBXO11	NM_001190274.2(FBXO11):c.2570_2572del:p.Asn857del	coding	Pathogenic
2	47808410	GTGTTA	G	T47808411C	FBXO11	NM_001190274.2(FBXO11):c.2568_2572del:p.Asn857fs	coding	Pathogenic
2	47809191	CTT	C	T47809192G	FBXO11	NM_001190274.2(FBXO11):c.2520_2521del:p.Ser841fs	coding	Pathogenic
2	47809648	GGTT	G	G47809652A	FBXO11	NM_001190274.2(FBXO11):c.2392AAC[1]:p.Asn799del	coding	Pathogenic
2	47813765	G	GA	G47813772A	FBXO11	NM_001190274.2(FBXO11):c.2083+20dup	noncoding	Benign
2	47822223	AT	A	T47822224G	FBXO11	NM_001190274.2(FBXO11):c.1696del:p.Ile566fs	coding	Pathogenic
2	47822320	T	TA	G47822330A	FBXO11	NM_001190274.2(FBXO11):c.1617-18dup	noncoding	Benign
2	47823201	TTTTATTCTCTATGAA	T	T47823204G	FBXO11	NM_001190274.2(FBXO11):c.1543_1557del:p.Phe515_Lys519del	coding	Pathogenic
2	47832332	AAAAT	A	A47832335G	FBXO11	NM_001190274.2(FBXO11):c.1398+13_1398+16del	noncoding	Benign
2	47833074	TGGA	T	G47833076A	FBXO11	NM_001190274.2(FBXO11):c.935-7_935-5del	noncoding	Benign
2	47835920	TG	T	G47835922A	FBXO11	NM_001190274.2(FBXO11):c.668del:p.Pro223fs	coding	Pathogenic
2	47838893	GT	G	T47838896A	FBXO11	NM_001190274.2(FBXO11):c.552del:p.Lys184fs	coding	Pathogenic
2	47838940	GAGA	G	A47838944T	FBXO11	NM_001190274.2(FBXO11):c.500TCT[1]:p.Phe168del	coding	Pathogenic
2	47905497	CCGA	C	A47905500T	FBXO11	NM_001190274.2(FBXO11):c.221_223del:p.Val74del	coding	Benign
2	47905641	G	GGCT	T47905655C	FBXO11	NM_001190274.2(FBXO11):c.68AGC[5]:p.Gln26dup	coding	Benign
2	48451036	AAG	A	A48451037G	PPP1R21	NM_001135629.3(PPP1R21):c.87_88del:p.Gly30fs	coding	Pathogenic
2	48458198	AT	A	T48458199A	PPP1R21	NM_001135629.3(PPP1R21):c.347del:p.Ile116fs	coding	Pathogenic
2	48495684	C	CT	G48495687T	PPP1R21	NM_001135629.3(PPP1R21):c.1607dup:p.Leu536fs	coding	Pathogenic
2	48687967	AAGAACC	A	A48687970T	LHCGR	NM_000233.4(LHCGR):c.1824_1829del:p.Val609_Leu610del	coding	Pathogenic
2	48691016	ATGTAGGCTCAACAAACATTTTTGTTTTTACCCATCTTCTGCTAATACAATCTTAGGAACTGGAGAAATGGGCATAATTTTTGTGTCAAGGCCATTACATATATGTATTTATAATACATTTTTGTATAATACATGAGGAGCCTTATGGTTCCTACATATTATTAAAAGCATATTTTTCTCTGCTTTCGAAAGCTAACTTCCCATGTTTTGTATTTTAAGTGCATACCTAGTTCAGTGAGTGGAGGAGATAATAAATTGGAAGAATACAATACTGAAGGGAAAGAACACAGATTTTTAAAAAGAAAATATGTTAGAGTATTGTGGAGCCCAGTTTGGAACTAGAGAAGGGCTGCTGCTATGTACAGAAGACCGCATAGGAACCTCTCGTGTTTTATTATTAAATATTGTTATAACCAGCACATTTGTTTGTCCTCTTCTCACAGACATCAATATAATTATCATTTTTTAATCTTTAAAGGGAGGAGATGGTTATAAAGAACTATTAAAGAAAATAGATCATAAATTTCTTAGCATTAGAAAGGTTTTAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCTGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATGCCCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTAAGTGACAGACTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAGGGTTTTAAAGGCCATCTGATTGAATCCTTTCATTTTATTGGTAACGAAACCAAGATTAAAGGAGGTAAGTGACTTGTCCAAGGTCTCTTGGGGATAGTGACAGTGGCAGCATGAGGTCTTCATAATCACAGTTCAGAGACCTTTCCCCTAACTTCACTCTCTCTCATTGTTTTTCAAAGTGTGGTCCTTGGATCAGCTCCATCAGAATCACCATGGTGTTTGTTAAAATGCAGACCCCTGGCTTTACCCCAAACCCTGAATAAAAAATCTATAGAGACACCGCCCAAGAATTTGCATTTTAAGTAAGTTCTCTGGATGATTCATACAAAATAATAGCCTTTGTTAAATTAGATGAAAACAGTCCAGCTATTCCTGATTTCCTTTACTCCTTTCCCCTTATCAAAACTACTTCAGCTGTTAGAAGCACTATTGTAAAACTTCTAAAAATTCTGCCATGATTTCTGGTTAAATTTATATCAACAAGAGGTCAAACATGTTTTCTCACTTCCTCTCGCTGTCTGGTCCTTTGTCCTTTCTTTTTTTGCCCTTCTGGGCATATGTCTAGCAATTTTTCTCCCTGGTGATTTATCTTTGGACTAAATGCCCACCTGCTGTTACTGGTATTTGTGTCCTGGGATGGCTCCTGAGGGCAGCATCATGCTTATTGACAAAGCCCAGCACAGAGCTGTCTTTAGTATTAGAGGCTATGTGGGGAGTATGAATGGACTCACATGGGCTTAGTAATATTGAATCAGAGGAAGGAGAGCTGTAGCACCGCTGCTCCAGTCACAAGAAAGAAAGGAGAAAAGATGGGAATTTTAGGAGGACAATAGGGCCAACCATAGAGGTAAGGACACATTATCTTGGGGAGAATACGTAAGCCTTAGTGGCTGGCTCTAGAATTTCTAAACTCTAGGGACTGAGGAATGGCTATCTGGTGGGAAGTAGGAGGTAGGAGATTTATCATAAAATGCTTTCACAAGAAGAATGCTCTTTTTACTTAGATTTTATGTTAATTTCAGTTAGTTTTGGAGATGCTAGAGATTAGGGACTTGTCTTAAAGCAGTGATAGCATAGCAAACTTAAGGTTGTATATGCTCATTTGAGAAGGTTTATGGTGAGGACTGGTGAGGATTATATTGAGGATGGTTTAAAGTCTTCCTTCCCCTCAAACCACTCCTTGGTGCTATTATTAACTATATCCATAAATGTTTTCTTGATGATAAGAATAAAGTCATGTGGTTGCAAAAGAGTTACACAGAAGGTTGCTGATAGAATACTGAGCAAGAAGAGAGGGAAGGGTGAAGAAAAGGCCACTGGAGGATATGGGTGCCAGACCTACTGCGAGAAAAGGAAAAGAAGAGACAGTAATACTTATTTACCCTTGGTGTTGTCGCATTGCTTAGCAACTTCCTTCATTCTCATGGTTCTGAAAGCCAAATGGTATTTCTGCTGTTCCTTACAGATGAGGAGAAAGGTCTCAAAAGGGATAAATTTTGCCAGCGATACTCTGTTACAGGAAGGTTACTTCCAAAGATTCATATACTTGGAATGGAACCCCAAAGTCCAGGGTCATTCCACCGTACCAACCTGAAGCATCTGTCTAACTTGGAGATTGATAGGAAAAGAAAAGAAGAGAAAATTTCAGAAAGAGATTGGCAAAGTATCTTAGAGGGACATCTAGTTTTGTAGTCTGGAGGACTCATGGGGGCATAATAAAACTTCTAAATCTTAGTAAATGTGCCATAGGGACACTGGGATTATCTTTTGAGGCATGCTCTTTTACAGTTGAAGATAAGTGAAATGCCAAGGCAGCCAGCATTTATAGCAGAAAAGTGTTAAAAGTTAGTCAGTAAAACAGAGATGTAGCTTCCATCCAGTGTATGTGGTAGCGATAGCATTAAGACTCATTTTAAGCTCAGGAGCATAGTTGTCGAGGTAGCCTAAGTCTCCTTTAAGGGAAGTGGCTACTTTTAAGCTACGTTTGCAATTAGTTAATCTTTGTGGAATGTTGACCATGTGACTAGGGAAAATTCTTACAAATGAAGGTATCAGTTGTATCAGCCTTTGGTGACATCAACATACCTGCAAAATTTTAATTTTTGAGGAGGCTTTAATACAATTGTAGAATAAATATTAAGGAACATTTTAAAATAGTTTTTTTAAACAGTTGAAAGACATACCTGATCAACTTGATGCCAATTGCAAAGAAAAAATTCCCATTTTAAAACTATTAAAAGTTGCTTTGCAACAGCTCCGTAACCAAGACTTGTATCAAAAGAAAATAATTGATGCTGATAATAAGGTGCACACAGAACAAGATACGACTTCTGAGTTTCCTTGCATGCAAATACTTACAGTGTTTTGTTATTCACTTTCCTTACTGTGCTTTCACATTGTTTGGAAAAGTTTTCAGAAATGGAATGTGAAAAATTCTGTCTGAAAGAGAAGAGGTTAAAAAAAGCATTTGAGCTTTTGGACTTCAGGCTAAACCTGACTGTGCGTCTATTTATGCTTTGTTCATGCAAATTCTTTACCTATTACACCAGCATCTCGTTCTGCACCATTGTCCTAACTGAAATGCTTCCTGAGGAGAGAGTAAAGGCTTCTGAATTGTCATTAGAGTGCTTCCAGCTTAGATAAAATGCTTCTGAATACTAAGCATTTTGTGTGGGCACTAGAGATGAAAAAACTTAAATTTGTCATATTGAATCAAGGATTTTCCAATGATTACTAAAAGCTACTTTTATGATATATTAAGGTTTGCTCCTTACCACTCTCCTTTCCACATTGGCCTTAACAAATAGTCATTCTGTGTTCATGGTTTTGAATTGTAACTGGGCATCTTTTTTGTAAGGATTTGAAGATGCTGGACCTGACATTATGATGTGAATTTCAGGTTATTTTTTCTTATGTGCAGAAACATACGTGGGTGCTCCCTACTCCTCCATCTTTCCCTCTAAGAAGTTTAGCCTGTGGAAAGAAGAGAAATACCAATAAAATAAAATGAGGCCTGTTCTCACCTGGGGGAGCACTTACCTAGAGATGAAATTTAAGGGAGATACAAATGAATAAAGAAATAGGGTATAAGCATTCCCTTTTCTTCCACAGCCTTGCCAGCATCTGTTGTTTTTCTCATTGTGGTTTTGATTTGCATTTCTCTGATGATTAGTGATGATGAGCATTTTTTCTTTAGAAGACATACAAGCAGCCAATAAGCATATGAAAAAATGCTGTTCTATTCATGCCCTTTGCCCATTTTTTAATGGGATTATTTATTTTTTTGCTTGTTGATGCATTTAATTTCATTATAGATTCTGGATATTAGACCTTTGTCAAATGCATAGTTTGTGAATATTGTTTCCCATCCTGTAGGTTGTCTGTTTACTCTGTTGATAGTTTCTTTTGCCGTGTGGAAGCTCTGTAGTCTAATTAGGTCCCACTCATCAATTTATGTTTTTGTTGCAATTGCTTTTGAGGACTTAGCTAAAAATTCTTTGCCAAGGCTGATGTCAAGAAGGGTATTTCCTAGGTTTTCATTTAGGACTTTTACAGTCTGAGAAAAGGGAATTCTCATACACTGTTGGTGGGAGTGTAAATTAGTTCATCCACTGTGGAAATCAGTTTGGAGATTTCTAAAAGAACTTAAAACAGAGCTACTATTCAACTCAGCAATCTCATTACTCGGTATATACCCAATGAAATAGATCATTACACCAAAAAGACATGTGCACTTATATGGTCATTGCTATGCTATTCACAAAAACAAAGACATAGAATCAACCTGGGTGCCTGGATTGGATAAAGAAAATGTGGTACATATATACAATGTAATTCTATGCAGCCATAAAAAATCATGTCTTTTGCAGTAACATGGATGGAGCTGGAAGCCATAATCTTAAGTAAATTTATTCAAGATTAAAAAACCAAATACTGCATCTTCTCACTTAAAAGAGGGAGCTAAACACTGGGAACATATGAACATAACTGGGAACATATGAACAGGCACTGCAGAATACTAGAGGGGTCAGGGAAGGAGGGAGGCATGGGTTGAAAACTATCTATCGAGTATTATGCTCACTTCCTGGATGCAATATACTCATGTAACAAACTGGTACATGTACCCCCTGTATCTAAAATAAAAGTTGAATCAAAAAAATAGTGGTTGTCCACAGAGGAGGTCTACAGAAAAAAAAAAACAGTGGTTTCTTCATAATTACAAATGCCCCTGATTGTCTCTTATTTCTTCTCTCCTCATATTCAGTGCCCTGATGGCATTCTCATGACAGTCCATCTTTGTTTTCATAGAGAATGAAATTTGCATCTTCTCTGATGAGACAATGCATTGTTTCTACACAGTTCATGCATATTCTATGAAAGAAGTATCATGCTGTTGACACATTATTACAAGGTTTATCAACTGCATTCATTAAGAATTTGGACATTATGGAAAAGGACAGGCTCAGAAGGGACTACTTCCAAAAGGTTGCTTGGTGAAGTCAGATCAAGTTTCCCTGAGGGCAGTAGGGTGCAAGGCCGCAACCAGAAAAGATATGTGACATTTGCCTATTTTCCTTTTCATAAGTTTCAAATAGACTTATATTGTAATAGCAATTTGTAAAACATCAGAAAATTGAATTGTAACACACAGAAAGCAGGTAAAACATGAATGTATAGCTCAATGATTTCTCACAGAATGATCACCTACGTACCCATTAGTCAGGTCAATAAATGAAAATAAGCCACACCTCCTCCCTGCCCCCGCCAAGAAAAAAGAAAAATGGGAAAAGAGAGCAGGCTGTGAGGGCCTCAACTTTTACTGATGAGGAAGGATAAATGAGGCAATTCAAATTGGACATTTCTATGTATTATTCTTCTACAATACTTATGAGACAATTCCTTGCAGGAATACTTTGTCTCTTTCACCTACTGGAATAAAAATCCCTGAACTAAAATTTTCACATGCCAGTGATTTCAGAAGGGGTGTGATTTCTTTGCCAAAAAATGTGGGTATCCAGAATCAGCTCTATCATAAACCAGTATCTCTGTCATTTTCCTAATTGTTCTCTCACCAGCTTTGCTCACCCCCAAACCATCCTCTACCTTGCTGCAAAGTGGTATTTTATAAAAGCAAATTTGAGTCATCTTGCTTAAAAGTCTTCATGGCTCCCCATCCTCTAAACAACCGGGCCTGGCACTCAGACCATCATGGCCCACATCTCCTTGGCTTCCTCT	A	G48691018C	LHCGR	NM_000233.4(LHCGR):c.866+1515_948-2168del	noncoding	Pathogenic
2	48694022	G	GT	A48694030T	LHCGR	NM_000233.4(LHCGR):c.947+195dup	noncoding	Benign
2	48698847	AT	A	T48698859G	LHCGR	NM_000233.4(LHCGR):c.681-48del	noncoding	Benign
2	48755616	G	GGCTGCAGCTGCAGCAGCAGCAGCAGCTTCAGCA	A48755625T	LHCGR	NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC:p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln	coding	Pathogenic
2	48755636	C	CTG	T48755638G	LHCGR	NM_000233.4(LHCGR):c.35_36insCA:p.Lys12fs	coding	Pathogenic
2	48963135	CACGATGT	C	A48963136T	FSHR	NM_000145.4(FSHR):c.1679_1685del:p.Asn560fs	coding	Pathogenic
2	48964068	A	AT	C48964081T	FSHR	NM_000145.4(FSHR):c.855-114dup	noncoding	Benign
2	48989273	CT	C	T48989298A	FSHR	NM_000145.4(FSHR):c.447-220del	noncoding	Benign
2	48989273	CTT	C	T48989297A	FSHR	NM_000145.4(FSHR):c.447-221_447-220del	noncoding	Benign
2	48989273	CTTTT	C	T48989295A	FSHR	NM_000145.4(FSHR):c.447-223_447-220del	noncoding	Benign
2	48989273	CTTTTTTTT	C	T48989291A	FSHR	NM_000145.4(FSHR):c.447-227_447-220del	noncoding	Benign
2	48990892	T	TAA	C48990903A	FSHR	NM_000145.4(FSHR):c.375-265_375-264dup	noncoding	Benign
2	48990892	T	TA	C48990903A	FSHR	NM_000145.4(FSHR):c.375-265dup	noncoding	Benign
2	49154557	CT	C	T49154574G	FSHR	Single_allele	noncoding	Benign
2	49154557	CTTT	C	T49154572G	FSHR	Single_allele	noncoding	Benign
2	49943686	GA	G	A49943693G	NRXN1	NM_001330078.2(NRXN1):c.4216+17del	noncoding	Benign
2	50053376	AGT	A	T50053378G	NRXN1	NM_001330078.2(NRXN1):c.4021_4022del:p.Thr1341fs	coding	Pathogenic
2	50091511	G	GA	G50091518A	NRXN1	NM_001330078.2(NRXN1):c.3547-18dup	noncoding	Benign
2	50236577	CA	C	A50236594G	NRXN1	NM_001330078.2(NRXN1):c.3546+211del	noncoding	Benign
2	50236577	C	CA	G50236595A	NRXN1	NM_001330078.2(NRXN1):c.3546+195dup	noncoding	Benign
2	50346870	GCGCCGCCGCCGC	G	G50346890C	NRXN1	NM_001330078.2(NRXN1):c.3365-109930GCG[6]	coding	Benign
2	50346870	GCGCCGC	G	G50346896C	NRXN1	NM_001330078.2(NRXN1):c.3365-109930GCG[8]	coding	Benign/Likely_benign
2	50346870	GCGC	G	G50346899C	NRXN1	NM_001330078.2(NRXN1):c.3365-109930GCG[9]	coding	Benign/Likely_benign
2	50472059	C	CA	C50472067A	NRXN1	NM_001330078.2(NRXN1):c.3244+232dup	noncoding	Benign
2	50497419	GA	G	A50497426G	NRXN1	NM_001330078.2(NRXN1):c.2792del:p.Phe931fs	coding	Pathogenic
2	50531171	C	CA	T50531175A	NRXN1	NM_001330078.2(NRXN1):c.2347+53dup	noncoding	Benign
2	50531292	C	CT	A50531294T	NRXN1	NM_001330078.2(NRXN1):c.2281dup:p.Arg761fs	coding	Pathogenic
2	51026369	ACTTT	A	T51026372G	NRXN1	NM_001330078.2(NRXN1):c.772+1129_772+1132del	noncoding	Pathogenic
2	51026399	AC	A	C51026400A	NRXN1	NM_001330078.2(NRXN1):c.772+1102del	coding	Pathogenic/Likely_pathogenic
2	51032506	AAGAAAGAGAGAGAG	A	A51032510G	NRXN1	Single_allele	noncoding	Benign
2	51032506	AAGAAAGAGAGAGAGAG	A	A51032510G	NRXN1	Single_allele	noncoding	Benign
2	51032510	AAGAGAGAGAGAGAGAGAGAG	A	G51032534A	NRXN1	Single_allele	noncoding	Benign
2	54629408	CTGGATGCTGGA	C	T54629409C	SPTBN1	NM_003128.3(SPTBN1):c.2275_2285del:p.Trp759fs	coding	Pathogenic
2	54646326	C	CT	G54646328T	SPTBN1	NM_003128.3(SPTBN1):c.4718dup:p.Trp1574fs	coding	Pathogenic
2	55233470	CCTGT	C	C55233471A	RPS27A	NM_002954.6(RPS27A):c.103+54_103+57del	noncoding	Benign
2	55233475	AGGT	A	G55233477C	RPS27A	NM_002954.6(RPS27A):c.103+60_103+62del	noncoding	Benign
2	55296062	TA	T	A55296071T	CCDC88A	NM_001365480.1(CCDC88A):c.5092-7del	noncoding	Benign
2	55296062	T	TA	T55296072A	CCDC88A	NM_001365480.1(CCDC88A):c.5092-7dup	noncoding	Benign
2	55309171	G	GGA	T55309176G	CCDC88A	NM_001365480.1(CCDC88A):c.4161_4162dup:p.Pro1388fs	coding	Pathogenic
2	55328293	CTGTTT	C	G55328295A	CCDC88A	NM_001365480.1(CCDC88A):c.2993_2997del:p.Lys998fs	noncoding	Pathogenic
2	55334878	AT	A	T55334885C	CCDC88A	NM_001365480.1(CCDC88A):c.1942del:p.Lys647_Ile648insTer	coding	Pathogenic
2	55334909	CA	C	A55334911G	CCDC88A	NM_001365480.1(CCDC88A):c.1911del:p.Glu638fs	coding	Pathogenic
2	55336665	T	TA	T55336672A	CCDC88A	NM_001365480.1(CCDC88A):c.1656+15dup	noncoding	Benign
2	55343674	ATC	A	C55343676G	CCDC88A	NM_001365480.1(CCDC88A):c.1305_1306del:p.Gln435fs	coding	Pathogenic
2	55346253	TCTGA	T	A55346257C	CCDC88A	NM_001365480.1(CCDC88A):c.959_962del:p.Val320fs	coding	Pathogenic
2	55346322	CA	C	A55346325T	CCDC88A	NM_001365480.1(CCDC88A):c.893del:p.Leu298fs	coding	Pathogenic
2	55364048	TA	T	A55364052T	CCDC88A	NM_001365480.1(CCDC88A):c.403-16del	noncoding	Benign
2	55372476	T	TA	G55372481A	CCDC88A	NM_001365480.1(CCDC88A):c.377dup:p.Leu126fs	coding	Pathogenic
2	55635931	TTCTA	T	T55635936A	PNPT1	NM_033109.5(PNPT1):c.*298TAGA[1]	noncoding	Benign
2	55635975	CTA	C	A55635977G	PNPT1	NM_033109.5(PNPT1):c.*260_*261del	noncoding	Benign
2	55637603	GA	G	A55637612T	PNPT1	NM_033109.5(PNPT1):c.2149-5del	noncoding	Benign
2	55643738	CA	C	A55643751G	PNPT1	NM_033109.5(PNPT1):c.1907-314del	noncoding	Benign
2	55645422	C	CT	G55645429T	PNPT1	NM_033109.5(PNPT1):c.1748dup:p.Glu584fs	coding	Pathogenic
2	55646773	TGTAA	T	A55646777T	PNPT1	NM_033109.5(PNPT1):c.1603-291_1603-288del	noncoding	Benign
2	55647369	T	TATC	A55647371T	PNPT1	NM_033109.5(PNPT1):c.1579_1580insGAT:p.Tyr527Ter	coding	Pathogenic
2	55656374	TA	T	A55656387C	PNPT1	NM_033109.5(PNPT1):c.1285-4del	noncoding	Benign
2	55656374	T	TA	C55656388A	PNPT1	NM_033109.5(PNPT1):c.1285-4dup	noncoding	Benign
2	55660195	TA	T	A55660200T	PNPT1	NM_033109.5(PNPT1):c.1248-3del	noncoding	Benign
2	55667964	GA	G	A55667970G	PNPT1	NM_033109.5(PNPT1):c.977-7del	noncoding	Benign
2	55671994	CT	C	T55671997G	PNPT1	NM_033109.5(PNPT1):c.918del:p.Val307fs	noncoding	Pathogenic
2	55673096	GA	G	A55673106T	PNPT1	NM_033109.5(PNPT1):c.680-18del	noncoding	Benign
2	55673096	G	GAA	T55673107A	PNPT1	NM_033109.5(PNPT1):c.680-19_680-18dup	noncoding	Benign
2	55680425	TA	T	A55680443G	PNPT1	NM_033109.5(PNPT1):c.565+286del	noncoding	Benign
2	55680772	GA	G	A55680777T	PNPT1	NM_033109.5(PNPT1):c.518-14del	noncoding	Benign
2	55683612	C	CA	G55683632A	PNPT1	NM_033109.5(PNPT1):c.453+154dup	noncoding	Benign
2	55683844	GA	G	A55683853C	PNPT1	NM_033109.5(PNPT1):c.404-11del	noncoding	Benign
2	55685061	T	TA	G55685070A	PNPT1	NM_033109.5(PNPT1):c.298-14dup	noncoding	Benign
2	55687438	C	CA	T55687450A	PNPT1	NM_033109.5(PNPT1):c.222+196dup	noncoding	Benign
2	55867443	C	CT	A55867458T	EFEMP1	NM_001039348.3(EFEMP1):c.1321-223dup	noncoding	Benign
2	55867443	CT	C	T55867457A	EFEMP1	NM_001039348.3(EFEMP1):c.1321-210del	noncoding	Benign
2	55870643	CACA	C	C55870672A	EFEMP1	NM_001039348.3(EFEMP1):c.1320+47TGT[9]	noncoding	Benign
2	55874926	GA	G	A55874936T	EFEMP1	NM_001039348.3(EFEMP1):c.1000+19del	noncoding	Benign
2	55874926	G	GA	T55874937A	EFEMP1	NM_001039348.3(EFEMP1):c.1000+10dup	noncoding	Benign
2	55876756	TTA	T	A55876770G	EFEMP1	NM_001039348.3(EFEMP1):c.761-28TA[6]	noncoding	Benign
2	58162961	G	GA	T58162969A	FANCL	NM_018062.4(FANCL):c.822-21dup	noncoding	Benign
2	58163033	AATGT	A	A58163038T	FANCL	NM_018062.4(FANCL):c.813_816del:p.His272fs	coding	Pathogenic
2	58163083	TA	T	A58163095T	FANCL	NM_018062.4(FANCL):c.776-10del	noncoding	Benign/Likely_benign
2	58163083	T	TAA	T58163096A	FANCL	NM_018062.4(FANCL):c.776-11_776-10dup	noncoding	Benign
2	58163437	GGTCAGCTCCAA	G	T58163439A	FANCL	NM_018062.4(FANCL):c.761_771del:p.Leu254fs	coding	Pathogenic
2	58163452	AGAAGCACTCAG	A	C58163459T	FANCL	NM_018062.4(FANCL):c.746_756del:p.Pro249fs	coding	Pathogenic
2	58163509	CATT	C	T58163514C	FANCL	NM_018062.4(FANCL):c.694AAT[1]:p.Asn233del	coding	Benign
2	58165662	TTTA	T	A58165665T	FANCL	NM_018062.4(FANCL):c.691+59_691+61del	noncoding	Benign
2	58165879	G	GA	T58165887A	FANCL	NM_018062.4(FANCL):c.541-12dup	noncoding	Benign
2	58166163	G	GTAC	A58166167T	FANCL	NM_018062.4(FANCL):c.541-292_541-290dup	noncoding	Benign
2	58204203	AAGCAGGTATCCGC	A	G58204205T	FANCL	NM_018062.4(FANCL):c.385_397del:p.Ala129fs	coding	Pathogenic
2	58204342	A	AAATT	C58204346T	FANCL	NM_018062.4(FANCL):c.375-117_375-116insATTA	noncoding	Benign
2	58206325	ATTAT	A	T58206329G	FANCL	NM_018062.4(FANCL):c.375-2103_375-2100del	noncoding	Benign
2	58206504	G	GA	C58206511A	FANCL	NM_018062.4(FANCL):c.375-2284dup	noncoding	Benign
2	58221906	CA	C	A58221909G	FANCL	NM_018062.4(FANCL):c.374+35del	noncoding	Benign
2	58222316	T	TA	T58222327A	FANCL	NM_018062.4(FANCL):c.274-284dup	noncoding	Benign
2	58226708	G	GA	T58226721A	FANCL	NM_018062.4(FANCL):c.273+8dup	noncoding	Benign
2	58229800	TA	T	A58229805G	FANCL	NM_018062.4(FANCL):c.216+13del	noncoding	Benign
2	60461065	CC	T	C60461065T	BCL11A	NM_022893.4(BCL11A):c.1846_1847delinsA:p.Gly616fs	coding	Pathogenic
2	60461289	G	GCGGCTCT	T60461299G	BCL11A	NM_022893.4(BCL11A):c.1616_1622dup:p.Ala542fs	coding	Pathogenic
2	60461566	TC	T	C60461568G	BCL11A	NM_022893.4(BCL11A):c.1345del:p.Glu449fs	coding	Pathogenic
2	60461793	C	CG	C60461799G	BCL11A	NM_022893.4(BCL11A):c.1118dup:p.Val374fs	coding	Pathogenic
2	60462336	AGTGTTCTGTGC	A	C60462342G	BCL11A	NM_022893.4(BCL11A):c.565_575del:p.Ala189fs	coding	Pathogenic
2	60462392	TTGTACATG	T	C60462397G	BCL11A	NM_022893.4(BCL11A):c.512_519del:p.Thr171fs	coding	Pathogenic
2	60546045	TG	T	G60546047A	BCL11A	NM_022893.4(BCL11A):c.310del:p.Gln104fs	coding	Pathogenic
2	60546208	GC	G	C60546211A	BCL11A	NM_022893.4(BCL11A):c.147del:p.Gln50fs	coding	Pathogenic
2	61031431	GGGTCCTACTTTAAT	G	G61031433A	PEX13	NM_002618.4(PEX13):c.107_120del:p.Gly36fs	coding	Pathogenic/Likely_pathogenic
2	61031483	CCA	C	A61031485C	PEX13	NM_002618.4(PEX13):c.159_160del:p.Pro54fs	coding	Pathogenic
2	61031526	G	GT	G61031528T	PEX13	NM_002618.4(PEX13):c.201dup:p.Val68fs	coding	Pathogenic
2	61031824	TC	T	C61031825A	PEX13	NM_002618.4(PEX13):c.499del:p.His167fs	coding	Pathogenic
2	61045766	T	TG	C61045768G	PEX13	NM_002618.4(PEX13):c.829dup:p.Ala277fs	coding	Pathogenic
2	61048456	C	CT	C61048465T	PEX13	NM_002618.4(PEX13):c.914-8dup	noncoding	Benign
2	61836018	CT	C	T61836019C	FAM161A	NM_001201543.2(FAM161A):c.1842del:p.Val615fs	coding	Pathogenic
2	61836018	CTCTT	C	T61836021A	FAM161A	NM_001201543.2(FAM161A):c.1839_1842del:p.Arg614fs	coding	Pathogenic
2	61836030	GC	G	C61836031A	FAM161A	NM_001201543.2(FAM161A):c.1830del:p.Leu611fs	coding	Pathogenic/Likely_pathogenic
2	61836037	CCT	C	C61836040T	FAM161A	NM_001201543.2(FAM161A):c.1822_1823del:p.Arg608fs	coding	Pathogenic
2	61838584	G	GT	G61838586T	FAM161A	NM_001201543.2(FAM161A):c.1704dup:p.His569fs	coding	Pathogenic
2	61839456	GGGCACGGGAGGGT	G	G61839457T	FAM161A	NM_001201543.2(FAM161A):c.1535_1547del:p.Asn512fs	coding	Pathogenic
2	61839465	AGGGTT	A	G61839467C	FAM161A	NM_001201543.2(FAM161A):c.1534_1538del:p.Asn512fs	coding	Pathogenic
2	61839518	T	TA	C61839520A	FAM161A	NM_001201543.2(FAM161A):c.1485dup:p.Lys496Ter	coding	Pathogenic
2	61839555	TA	T	A61839558T	FAM161A	NM_001201543.2(FAM161A):c.1448del:p.Asn482_Leu483insTer	coding	Pathogenic
2	61839615	TG	T	G61839617A	FAM161A	NM_001201543.2(FAM161A):c.1388del:p.Pro463fs	coding	Pathogenic
2	61839646	ACT	A	C61839647G	FAM161A	NM_001201543.2(FAM161A):c.1356_1357del:p.Val453_Cys454insTer	coding	Pathogenic
2	61839651	T	TA	G61839654A	FAM161A	NM_001201543.2(FAM161A):c.1352dup:p.Leu451fs	coding	Pathogenic
2	61839846	C	CA	G61839848A	FAM161A	NM_001201543.2(FAM161A):c.1157dup:p.Arg387fs	coding	Pathogenic
2	61840058	C	CT	G61840062T	FAM161A	NM_001201543.2(FAM161A):c.945dup:p.Glu316fs	coding	Pathogenic
2	61840127	GA	G	A61840130G	FAM161A	NM_001201543.2(FAM161A):c.876del:p.Leu293fs	coding	Pathogenic
2	61840156	C	CG	A61840159G	FAM161A	NM_001201543.2(FAM161A):c.847dup:p.Arg283fs	coding	Pathogenic
2	61840221	AT	A	T61840222C	FAM161A	NM_001201543.2(FAM161A):c.782del:p.Asp261fs	coding	Pathogenic
2	61840242	C	CA	T61840243A	FAM161A	NM_001201543.2(FAM161A):c.761_762insT:p.Glu254fs	coding	Pathogenic
2	61840257	CT	C	T61840258G	FAM161A	NM_001201543.2(FAM161A):c.746del:p.Gln249fs	coding	Pathogenic
2	61840330	CT	C	T61840336C	FAM161A	NM_001201543.2(FAM161A):c.673del:p.Arg225fs	coding	Pathogenic
2	61840454	CT	C	T61840459C	FAM161A	NM_001201543.2(FAM161A):c.549del:p.Glu184fs	coding	Pathogenic
2	61842136	AAG	A	A61842141T	FAM161A	NM_001201543.2(FAM161A):c.406_407del:p.Ser135_Leu136insTer	coding	Pathogenic
2	61842170	TC	T	C61842172T	FAM161A	NM_001201543.2(FAM161A):c.373del:p.Glu125fs	coding	Pathogenic
2	61842175	TA	T	A61842178T	FAM161A	NM_001201543.2(FAM161A):c.368del:p.His122_Leu123insTer	coding	Pathogenic
2	61842243	CTT	C	T61842244C	FAM161A	NM_001201543.2(FAM161A):c.299_300del:p.Glu100fs	coding	Pathogenic
2	61842249	CT	C	T61842252C	FAM161A	NM_001201543.2(FAM161A):c.294del:p.Lys98_Val99insTer	coding	Pathogenic/Likely_pathogenic
2	61842281	AT	A	T61842282A	FAM161A	NM_001201543.2(FAM161A):c.262del:p.Ile88fs	coding	Pathogenic
2	61853922	CG	C	G61853923C	FAM161A	NM_001201543.2(FAM161A):c.119del:p.Ala40fs	coding	Pathogenic
2	61854028	TG	T	G61854031A	FAM161A	NM_001201543.2(FAM161A):c.13del:p.His5fs	coding	Pathogenic
2	63259308	AACCC	A	A63259309C	WDPCP	NM_015910.7(WDPCP):c.1910_1913del:p.Gly637fs	coding	Pathogenic
2	63313241	GACTCACCATA	G	C63313243A	WDPCP	NM_015910.7(WDPCP):c.1809_1812+6del	noncoding	Pathogenic
2	63313286	GAAATGCCTTTTCAAACCTCTGGT	G	A63313288C	WDPCP	NM_015910.7(WDPCP):c.1751_1773del:p.Tyr584fs	coding	Pathogenic
2	63404062	AGC	A	G63404063A	WDPCP	NM_015910.7(WDPCP):c.1419_1420del:p.Leu474fs	coding	Pathogenic
2	63492944	TTTAAAAAATAA	T	A63492952G	WDPCP	NM_015910.7(WDPCP):c.76-15_76-5del	noncoding	Benign
2	64989247	TC	T	C64989250G	SLC1A4	NM_001193493.2(SLC1A4):c.-134+630del	noncoding	Benign
2	64989251	GGCGGCGGCTCCC	G	C64989253G	SLC1A4	NM_001193493.2(SLC1A4):c.-134+633_-134+644del	noncoding	Benign
2	65016604	GA	G	A65016610C	SLC1A4	NM_003038.5(SLC1A4):c.971del:p.Asn324fs	coding	Pathogenic
2	65313614	TAA	T	A65313615G	SPRED2	NM_181784.3(SPRED2):c.1142_1143del:p.Leu381fs	coding	Pathogenic
2	69013127	AACCC	A	A69013128C	ANTXR1	Single_allele	noncoding	Benign
2	69013127	AACCCC	A	A69013128C	ANTXR1	Single_allele	noncoding	Benign
2	69013127	AACCCCC	A	A69013128C	ANTXR1	Single_allele	noncoding	Benign
2	69072956	GGAC	G	G69072957T	ANTXR1	NM_032208.3(ANTXR1):c.413-65_413-63del	noncoding	Benign
2	69075674	TC	T	C69075676T	ANTXR1	NM_032208.3(ANTXR1):c.561+18del	noncoding	Benign
2	69091118	TA	T	A69091136T	ANTXR1	NM_032208.3(ANTXR1):c.703+217del	noncoding	Benign
2	69193442	G	GTCTC	A69193461T	ANTXR1	NM_032208.3(ANTXR1):c.1434+28TC[11]	noncoding	Benign
2	69193442	G	GTCTCTC	A69193461T	ANTXR1	NM_032208.3(ANTXR1):c.1434+28TC[12]	noncoding	Benign
2	69193459	T	TCACA	T69193464C	ANTXR1	NM_032208.3(ANTXR1):c.1434+45CA[4]	noncoding	Benign
2	69193459	T	TCTCA	A69193461T	ANTXR1	NM_032208.3(ANTXR1):c.1434+45_1434+46insTCAC	noncoding	Benign
2	69193490	C	CACAT	T69193492C	ANTXR1	NM_032208.3(ANTXR1):c.1434+76_1434+77insCATA	noncoding	Benign
2	69326243	G	GA	G69326257A	GFPT1	NM_001244710.2(GFPT1):c.2056-11dup	noncoding	Benign
2	69338478	G	GA	G69338482A	GFPT1	NM_001244710.2(GFPT1):c.1290dup:p.Arg431fs	coding	Pathogenic
2	69338710	TA	T	A69338722T	GFPT1	NM_001244710.2(GFPT1):c.1204-146del	noncoding	Benign
2	69350150	CGAGA	C	G69350155T	GFPT1	NM_001244710.2(GFPT1):c.769_772del:p.Ser257fs	coding	Pathogenic
2	69354258	CCT	C	C69354261T	GFPT1	NM_001244710.2(GFPT1):c.738_739del:p.Gly247fs	noncoding	Pathogenic
2	69354311	A	AG	C69354313G	GFPT1	NM_001244710.2(GFPT1):c.686dup:p.Ala229_Arg230insTer	coding	Pathogenic
2	69354718	T	TA	T69354726A	GFPT1	NM_001244710.2(GFPT1):c.606-157dup	noncoding	Benign
2	69356567	G	GA	T69356575A	GFPT1	NM_001244710.2(GFPT1):c.544-11dup	noncoding	Benign
2	69358477	GA	G	A69358485G	GFPT1	NM_001244710.2(GFPT1):c.409-15del	noncoding	Benign
2	69363527	C	CA	T69363534A	GFPT1	NM_001244710.2(GFPT1):c.349+17dup	noncoding	Benign
2	69373990	A	AT	A69373999T	GFPT1	NM_001244710.2(GFPT1):c.115+15dup	noncoding	Benign
2	69374319	C	CT	G69374332T	GFPT1	NM_001244710.2(GFPT1):c.8-218dup	noncoding	Benign
2	69400705	A	AT	A69400718T	NFU1	NM_001002755.4(NFU1):c.546-179dup	noncoding	Benign
2	69415381	C	CT	G69415394T	NFU1	NM_001002755.4(NFU1):c.370-94dup	noncoding	Benign
2	70214199	T	TA	C70214201A	TIA1	NM_022173.4(TIA1):c.1034+149dup	noncoding	Benign
2	70215590	ACAGTTTG	A	A70215592G	TIA1	NM_022173.4(TIA1):c.765-103_765-97del	noncoding	Benign
2	70224472	GA	G	A70224479G	TIA1	NM_022173.4(TIA1):c.474+81del	noncoding	Benign
2	70229320	T	TA	T70229333A	TIA1	NM_022173.4(TIA1):c.223-3dup	noncoding	Benign
2	70231135	T	TA	T70231145A	TIA1	NM_022173.4(TIA1):c.124-290dup	noncoding	Benign
2	70236036	T	TA	G70236048A	TIA1	NM_022173.4(TIA1):c.123+32dup	noncoding	Benign
2	70236202	C	CT	G70236216T	TIA1	NM_022173.4(TIA1):c.27-40dup	noncoding	Benign
2	70777281	CA	C	A70777297G	FIGLA	Single_allele	noncoding	Benign
2	70777281	C	CAA	G70777298A	FIGLA	Single_allele	noncoding	Benign
2	70777281	C	CA	G70777298A	FIGLA	Single_allele	noncoding	Benign
2	70935978	G	GC	T70935981C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.26dup:p.Gly10fs	coding	Pathogenic
2	70935980	CT	C	T70935981G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.27del:p.Leu12fs	coding	Pathogenic
2	70935981	T	TG	C70935988G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.33dup:p.Leu12fs	coding	Pathogenic
2	70943568	GGA	G	A70943574G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.119-89GA[2]	noncoding	Benign
2	70957836	G	GT	A70957838T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.175-209dup	noncoding	Benign
2	70958059	CG	C	G70958061A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.190del:p.Glu64fs	coding	Pathogenic
2	70958112	C	CTTGA	G70958117T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.242_245dup:p.Glu82delinsAspTer	coding	Pathogenic
2	70960936	TGCCGCCAGGC	T	C70960938G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.603_612del:p.Cys201fs	coding	Pathogenic
2	70961253	TG	T	G70961258A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.687+236del	noncoding	Benign
2	70962815	CT	C	T70962816G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.825del:p.Ala276fs	coding	Pathogenic
2	70964112	GTATTTTT	G	A70964114T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1144-324_1144-318del	noncoding	Benign
2	70964494	T	TG	A70964499G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1204dup:p.Glu402fs	coding	Pathogenic
2	70964728	T	TC	A70964734C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1249-3dup	noncoding	Benign
2	70964744	C	CT	A70964746T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1258dup:p.Tyr420fs	coding	Pathogenic
2	70964786	T	TG	A70964791G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1303dup:p.Glu435fs	coding	Pathogenic
2	70964835	CA	C	A70964836G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1349del:p.Gln450fs	coding	Pathogenic
2	70964969	A	AAC	C70964972A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1391_1392dup:p.Arg465fs	coding	Pathogenic
2	70964977	G	GGT	T70964982G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1401_1402dup:p.Phe468fs	coding	Pathogenic
2	71109848	TCA	T	C71109849G	MCEE	NM_032601.4(MCEE):c.*120_*121del	noncoding	Benign/Likely_benign
2	71124703	T	TA	C71124705A	MCEE	NM_032601.4(MCEE):c.41-161dup	noncoding	Benign
2	71454055	CAGCGATGCCT	C	G71454057C	DYSF	NM_003494.4(DYSF):c.59_68del:p.Ser20fs	coding	Pathogenic
2	71480897	AC	A	C71480899A	DYSF	NM_001130987.2(DYSF):c.108del:p.Val38fs	coding	Pathogenic
2	71481695	T	TATCCATCCATCC	G71481730C	DYSF	NM_001130987.2(DYSF):c.148-183ATCC[11]	noncoding	Benign
2	71481695	T	TATCCATCC	G71481730C	DYSF	NM_001130987.2(DYSF):c.148-183ATCC[10]	noncoding	Benign
2	71481695	T	TATCC	G71481730C	DYSF	NM_001130987.2(DYSF):c.148-183ATCC[9]	noncoding	Benign
2	71481722	C	CCATCCATCCATCCATCCATT	G71481730C	DYSF	NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATCCATTCATCCAT	noncoding	Benign
2	71481722	C	CCATCCATCCATCCATT	G71481730C	DYSF	NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATTCATCCAT	noncoding	Benign
2	71481904	TC	T	C71481909T	DYSF	NM_001130987.2(DYSF):c.178del:p.Leu60fs	coding	Pathogenic
2	71481909	CT	C	T71481910G	DYSF	NM_001130987.2(DYSF):c.179del:p.Leu60fs	coding	Pathogenic
2	71503303	A	ATT	G71503304T	DYSF	NM_001130987.2(DYSF):c.329_330insTT:p.Lys110fs	coding	Pathogenic
2	71511861	TTCCCGCCCCCTAC	T	C71511865T	DYSF	NM_001130987.2(DYSF):c.404_416del:p.Pro135fs	coding	Pathogenic
2	71511866	G	GC	T71511872C	DYSF	NM_001130987.2(DYSF):c.410dup:p.Thr138fs	coding	Pathogenic
2	71513811	A	AC	A71513816C	DYSF	NM_001130987.2(DYSF):c.653dup:p.Arg219fs	coding	Pathogenic
2	71513848	A	ACC	G71513853C	DYSF	NM_001130987.2(DYSF):c.689_690dup:p.Gly231fs	coding	Pathogenic
2	71513862	AG	A	G71513863A	DYSF	NM_001130987.2(DYSF):c.701del:p.Arg234fs	coding	Pathogenic
2	71514147	TA	T	A71514168G	DYSF	NM_001130987.2(DYSF):c.759+247del	noncoding	Benign
2	71514147	T	TAA	G71514169A	DYSF	NM_001130987.2(DYSF):c.759+246_759+247dup	noncoding	Benign
2	71514147	T	TA	G71514169A	DYSF	NM_001130987.2(DYSF):c.759+247dup	noncoding	Benign
2	71516194	CTTGT	C	T71516198A	DYSF	NM_001130987.2(DYSF):c.907_910del:p.Phe303fs	coding	Pathogenic
2	71516213	GA	G	A71516214G	DYSF	NM_001130987.2(DYSF):c.923del:p.Glu308fs	coding	Pathogenic
2	71520870	G	GC	T71520873C	DYSF	NM_001130987.2(DYSF):c.1117dup:p.Leu373fs	coding	Pathogenic
2	71526275	GGCCCACAGGCGTAGCCCTGCGAGGA	G	A71526282T	DYSF	NM_001130987.2(DYSF):c.1212_1236del:p.Gly405fs	coding	Pathogenic
2	71526325	CG	C	G71526328C	DYSF	NM_001130987.2(DYSF):c.1258del:p.Ala420fs	coding	Pathogenic
2	71526339	GC	G	C71526341G	DYSF	NM_001130987.2(DYSF):c.1271del:p.Pro424fs	coding	Pathogenic
2	71526344	AGAGTGCGT	A	A71526346G	DYSF	NM_001130987.2(DYSF):c.1276_1276+7del	coding	Pathogenic
2	71535289	ATG	A	T71535290A	DYSF	NM_001130987.2(DYSF):c.1472_1473del:p.Met491fs	coding	Pathogenic
2	71539162	GC	G	C71539164T	DYSF	NM_001130987.2(DYSF):c.1501del:p.Arg500_Leu501insTer	coding	Pathogenic
2	71539191	ACC	A	C71539192T	DYSF	NM_001130987.2(DYSF):c.1529_1530del:p.Thr510fs	coding	Pathogenic
2	71551623	AT	A	T71551624C	DYSF	NM_001130987.2(DYSF):c.1710del:p.Arg571fs	coding	Pathogenic
2	71551691	C	CTTCCT	G71551697T	DYSF	NM_001130987.2(DYSF):c.1778_1782dup:p.Ala595fs	coding	Pathogenic
2	71553062	AC	A	C71553064A	DYSF	NM_001130987.2(DYSF):c.1860del:p.Met621fs	coding	Pathogenic
2	71554031	GAC	G	A71554036G	DYSF	NM_001130987.2(DYSF):c.2109+101AC[2]	noncoding	Benign
2	71556074	AG	A	G71556080A	DYSF	NM_001130987.2(DYSF):c.2216+9del	noncoding	Benign
2	71566454	AAATGTTGGCAGCAAGCAGAGACCAAGAAAACATTGGTGTTTCTTAACTTAAACCAAAGTTGGAAAAAATGAGCACCAGCAGAGAGAGAGAGGAGCCCCAAACTAGACATTTCTTTATTTGCTGTTGCTATTTTGGGTCCAGCAGGCTGGCCCCGTCTCGGGGAGGACAGGGGAGAGAGCCGGGGGTGGATGGGGGAAGTGGGGGTCAGGCATTCCTGCCATCTCCCTGGGGCTGGTGGTTTGGAGGGTAAAGGCAGTTAACCACCCGGGGGAGAGGACAGCCGAAGCGAACAGCCATGGAGAGGTTTCCCCGGGGCATGACACGTGGACTCAGGGGCTCCTACAGGCTTCATTGAAGATGAACCAAAAGAAGGGGGGCTGTGTCCGCAGGAGGGAAGCGTGAGGTGGCCCTAGCCTTGGCATGTCCTCTGCCCCTTCCTGAGCCTCCTACCTGCCCTGGGCTCTCCCTCCAGGGATCCAGGCCTCCCTGACCAGCGTGGGACCCCTTACCTCAGCTGCCCTTTCATCTTCTGAACCCACCCGTTTTCTCACTTGGCTATACTGCTCTGAGCTCATGACACTAGGCCTGGGTACTTAATGTGTTGCCTCCTCTAGGGGACAATGTGAATTTTAAGAGCAGGAGCTTCTGCTCCTCAGGCCATGTCTGACCTTTGGTTTCAATCAAATGGTGAAGTAATTGTGGAGAATAATTTTTGTTTCATGTTGGGTTGTTGTGGTTATTCCATTTGGCAGAGCTTCTGAAAGTTTCAGGAAAAAAAGCAGTTGAAGACCAGTGAATAGTGGTTGACATGCTGATAATCACTTGAAAGGGTAGGGATATTAGATGATACAGTAACCAAAGAAATAAAATACTAAACATGGAGGGGGAGGCTTTAATTTCTTCTCTTTCCAGATCTGTATCATTGTATCTCCTTTAGAGACAAGTTTTAGAACTGTGCTGTCCAATATGGTAGCCACAGATGGCTATTTAAATTTACATTAATTAAAAGTAAATGAAACGAAAACTTTATCTCCGCAGTCATACTGGCCACATTTCAAATGCTCGGTAGCTACATGGGCCTAGTTGACTACCATATTGGATGGTGAAGATATAAACCATTTTCCTCATAGCAGAAAGTTCCATTGGCAAGCACTGTTCCAGAAGAAAATGGAAGCGAGGCTGTGGTGGGAGAAGGGGAGAGGAGAGGTCCTGGGCTAGACATGGTTCTTCTCTGCAGAGCGCTCCTAGGAGGGAATGATGTAGCCTTTGCCTTTGATGGGGAGGAATCTTGGTGAGGGGTAGGGGGTGGGGTGGACGTTTCTTAATTGCACACTCCCCTTCTATGCAATTCTGGTAAGCGCTCCCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCT	A	A71566455C	DYSF	NM_001130987.2(DYSF):c.2566-1496_3203del	noncoding	Pathogenic
2	71566455	AATGTTGGCAGCAAGCAGAGACCAAGAAAACATTGGTGTTTCTTAACTTAAACCAAAGTTGGAAAAAATGAGCACCAGCAGAGAGAGAGAGGAGCCCCAAACTAGACATTTCTTTATTTGCTGTTGCTATTTTGGGTCCAGCAGGCTGGCCCCGTCTCGGGGAGGACAGGGGAGAGAGCCGGGGGTGGATGGGGGAAGTGGGGGTCAGGCATTCCTGCCATCTCCCTGGGGCTGGTGGTTTGGAGGGTAAAGGCAGTTAACCACCCGGGGGAGAGGACAGCCGAAGCGAACAGCCATGGAGAGGTTTCCCCGGGGCATGACACGTGGACTCAGGGGCTCCTACAGGCTTCATTGAAGATGAACCAAAAGAAGGGGGGCTGTGTCCGCAGGAGGGAAGCGTGAGGTGGCCCTAGCCTTGGCATGTCCTCTGCCCCTTCCTGAGCCTCCTACCTGCCCTGGGCTCTCCCTCCAGGGATCCAGGCCTCCCTGACCAGCGTGGGACCCCTTACCTCAGCTGCCCTTTCATCTTCTGAACCCACCCGTTTTCTCACTTGGCTATACTGCTCTGAGCTCATGACACTAGGCCTGGGTACTTAATGTGTTGCCTCCTCTAGGGGACAATGTGAATTTTAAGAGCAGGAGCTTCTGCTCCTCAGGCCATGTCTGACCTTTGGTTTCAATCAAATGGTGAAGTAATTGTGGAGAATAATTTTTGTTTCATGTTGGGTTGTTGTGGTTATTCCATTTGGCAGAGCTTCTGAAAGTTTCAGGAAAAAAAGCAGTTGAAGACCAGTGAATAGTGGTTGACATGCTGATAATCACTTGAAAGGGTAGGGATATTAGATGATACAGTAACCAAAGAAATAAAATACTAAACATGGAGGGGGAGGCTTTAATTTCTTCTCTTTCCAGATCTGTATCATTGTATCTCCTTTAGAGACAAGTTTTAGAACTGTGCTGTCCAATATGGTAGCCACAGATGGCTATTTAAATTTACATTAATTAAAAGTAAATGAAACGAAAACTTTATCTCCGCAGTCATACTGGCCACATTTCAAATGCTCGGTAGCTACATGGGCCTAGTTGACTACCATATTGGATGGTGAAGATATAAACCATTTTCCTCATAGCAGAAAGTTCCATTGGCAAGCACTGTTCCAGAAGAAAATGGAAGCGAGGCTGTGGTGGGAGAAGGGGAGAGGAGAGGTCCTGGGCTAGACATGGTTCTTCTCTGCAGAGCGCTCCTAGGAGGGAATGATGTAGCCTTTGCCTTTGATGGGGAGGAATCTTGGTGAGGGGTAGGGGGTGGGGTGGACGTTTCTTAATTGCACACTCCCCTTCTATGCAATTCTGGTAAGCGCTCCCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATC	A	A71566456T	DYSF	NM_001130987.2(DYSF):c.2566-1495_3202del	noncoding	Pathogenic
2	71568016	GCT	G	T71568020A	DYSF	NM_001130987.2(DYSF):c.2635_2636del:p.Val880fs	coding	Pathogenic
2	71569909	A	AC	A71569911C	DYSF	NM_001130987.2(DYSF):c.2955dup:p.Met986fs	coding	Pathogenic
2	71569909	ACATG	A	C71569910A	DYSF	NM_001130987.2(DYSF):c.2955_2958del:p.Ile984_Tyr985insTer	coding	Pathogenic
2	71570267	CC	AA	C71570267A	DYSF	NM_001130987.2(DYSF):c.3018_3019delinsAA:p.Cys1006_Pro1007delinsTer	coding	Pathogenic
2	71570620	T	TC	G71570627C	DYSF	NM_001130987.2(DYSF):c.3113dup:p.Glu1039fs	coding	Pathogenic
2	71570927	CAGATCACACCCAGCATACCCAA	C	C71570946A	DYSF	NM_001130987.2(DYSF):c.3228+205_3228+226del	noncoding	Benign
2	71571021	TCAGCACACACACAGATTACACC	T	T71571038C	DYSF	NM_001130987.2(DYSF):c.3228+297_3228+318del	noncoding	Benign
2	71574217	A	AG	C71574221G	DYSF	NM_001130987.2(DYSF):c.3251dup:p.Glu1085fs	coding	Pathogenic
2	71590252	CGG	C	G71590254A	DYSF	NM_001130987.2(DYSF):c.3540_3541del:p.Asp1181fs	coding	Pathogenic
2	71598618	A	AG	A71598620G	DYSF	NM_001130987.2(DYSF):c.3630dup:p.Asn1211fs	coding	Pathogenic
2	71598690	CA	C	A71598691G	DYSF	NM_001130987.2(DYSF):c.3702del:p.Val1235fs	coding	Pathogenic
2	71600754	TGCCACGGCTG	T	A71600758T	DYSF	NM_001130987.2(DYSF):c.3813_3822del:p.Arg1272fs	coding	Pathogenic
2	71600783	AG	A	G71600787C	DYSF	NM_001130987.2(DYSF):c.3842del:p.Gly1281fs	coding	Pathogenic
2	71611369	TG	T	G71611374C	DYSF	NM_001130987.2(DYSF):c.4059+28del	noncoding	Benign
2	71611580	TC	T	C71611582G	DYSF	NM_001130987.2(DYSF):c.4177del:p.Arg1393fs	coding	Pathogenic
2	71612666	GC	G	C71612673A	DYSF	NM_001130987.2(DYSF):c.4254del:p.Ile1419fs	coding	Pathogenic
2	71613368	G	GCTCATCGACATTTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAA	G71613381T	DYSF	NM_001130987.2(DYSF):c.4434_4435insTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCATCGACATT:p.Asp1479delinsPhePheXaaXaaXaaXaaPheSerArgAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
2	71643990	GC	G	C71643991A	DYSF	NM_001130987.2(DYSF):c.4554del:p.Ser1518fs	coding	Pathogenic
2	71655912	TCTC	T	C71655919T	DYSF	NM_001130987.2(DYSF):c.4627-249CTC[2]	noncoding	Benign
2	71656204	CT	C	T71656205G	DYSF	NM_001130987.2(DYSF):c.4670del:p.Leu1557fs	coding	Pathogenic/Likely_pathogenic
2	71656260	AG	A	G71656261A	DYSF	NM_001130987.2(DYSF):c.4726del:p.Glu1576fs	coding	Pathogenic
2	71658969	AG	A	G71658970T	DYSF	NM_001130987.2(DYSF):c.4848del:p.Glu1616fs	coding	Pathogenic
2	71660601	GA	G	A71660602G	DYSF	NM_001130987.2(DYSF):c.4954del:p.Ser1652fs	coding	Pathogenic
2	71660636	AG	A	G71660637C	DYSF	NM_001130987.2(DYSF):c.4989del:p.Glu1663fs	coding	Pathogenic
2	71664288	C	CTCTGCCTCTGGAGAAGGACCTAAAGATCA	C71664318T	DYSF	NM_001130987.2(DYSF):c.5025_5053dup:p.Thr1685delinsIleCysLeuTrpArgArgThrTer	coding	Pathogenic
2	71664347	G	GACGAA	A71664354C	DYSF	NM_001130987.2(DYSF):c.5085_5089dup:p.Lys1697fs	coding	Pathogenic
2	71664350	GA	G	A71664354G	DYSF	NM_001130987.2(DYSF):c.5090del:p.Lys1697fs	coding	Pathogenic
2	71664360	GTGAGACGGTCGTCGACCTG	A	G71664360A	DYSF	NM_001130987.2(DYSF):c.5096_5115delinsA:p.Gly1699fs	coding	Pathogenic
2	71665194	GC	G	C71665198T	DYSF	NM_001130987.2(DYSF):c.5211del:p.Ser1738fs	coding	Pathogenic
2	71665236	TCAAGGCAC	T	A71665238T	DYSF	NM_001130987.2(DYSF):c.5251_5258del:p.Lys1751fs	coding	Pathogenic
2	71665283	GA	G	A71665285T	DYSF	NM_001130987.2(DYSF):c.5298del:p.Glu1766fs	coding	Pathogenic
2	71665320	AC	A	C71665324A	DYSF	NM_001130987.2(DYSF):c.5317+20del	noncoding	Benign
2	71668810	T	TA	C71668811A	DYSF	NM_001130987.2(DYSF):c.5514_5515insA:p.Pro1839fs	coding	Pathogenic
2	71669185	AT	A	T71669186G	DYSF	NM_001130987.2(DYSF):c.5621del:p.Met1874fs	coding	Pathogenic
2	71679193	G	GT	G71679195T	DYSF	NM_001130987.2(DYSF):c.6022dup:p.Trp2008fs	coding	Pathogenic
2	71679228	T	TA	C71679230A	DYSF	NM_001130987.2(DYSF):c.6057dup:p.Leu2020fs	coding	Pathogenic
2	71681104	AC	A	C71681107A	DYSF	NM_001130987.2(DYSF):c.6170del:p.Pro2057fs	coding	Pathogenic
2	72184191	TA	T	A72184195T	EXOC6B	NM_015189.3(EXOC6B):c.2197-5del	noncoding	Benign
2	72335031	GAA	G	A72335034G	EXOC6B	NM_015189.3(EXOC6B):c.2123-13_2123-12del	noncoding	Benign
2	72465143	A	AAG	C72465146A	EXOC6B	NM_015189.3(EXOC6B):c.1980+15_1980+16dup	noncoding	Benign
2	72741473	T	TA	T72741483A	EXOC6B	NM_015189.3(EXOC6B):c.114-5dup	noncoding	Benign
2	72887733	GCGGGTAAGACCC	G	T72887738G	SPR	NM_003124.5(SPR):c.304+2_304+13del	coding	Pathogenic
2	73385828	C	CCCT	T73385845C	ALMS1	NM_015120.4(ALMS1):c.-39CTC[6]	noncoding	Benign
2	73385886	GC	G	C73385888A	ALMS1	NM_001378454.1(ALMS1):c.20del:p.Pro7fs	coding	Pathogenic/Likely_pathogenic
2	73385903	T	TGGA	A73385943G	ALMS1	NM_001378454.1(ALMS1):c.36GGA[14]:p.Glu28dup	coding	Benign/Likely_benign
2	73385921	AGG	A	G73385922A	ALMS1	NM_001378454.1(ALMS1):c.54_55del:p.Glu19fs	coding	Benign
2	73385924	AG	A	G73385926A	ALMS1	NM_001378454.1(ALMS1):c.58del:p.Glu20fs	coding	Benign
2	73385928	G	GGAGGAA	G73385934A	ALMS1	NM_001378454.1(ALMS1):c.65_66insAGAGGA:p.Glu28_Ala29insGluGlu	coding	Benign
2	73385941	G	GAGGAGT	A73385943G	ALMS1	NM_001378454.1(ALMS1):c.74_75insGGAGTA:p.Glu26_Glu27insTerGlu	coding	Pathogenic
2	73385942	A	AGG	A73385943G	ALMS1	NM_001378454.1(ALMS1):c.74_75insGG:p.Glu27fs	coding	Benign
2	73386016	GC	G	C73386017G	ALMS1	NM_001378454.1(ALMS1):c.149del:p.Ala50fs	coding	Pathogenic
2	73386034	T	TC	G73386037C	ALMS1	NM_001378454.1(ALMS1):c.168dup:p.Asp57fs	coding	Pathogenic
2	73386055	CA	C	A73386056G	ALMS1	NM_001378454.1(ALMS1):c.188del:p.Gln63fs	coding	Pathogenic
2	73386144	G	GC	G73386150C	ALMS1	NM_001378454.1(ALMS1):c.281dup:p.Gln95fs	coding	Pathogenic
2	73419257	GA	G	A73419258C	ALMS1	NM_001378454.1(ALMS1):c.586del:p.Thr196fs	coding	Pathogenic
2	73419308	T	TC	A73419311C	ALMS1	NM_001378454.1(ALMS1):c.638dup:p.Leu214fs	coding	Pathogenic
2	73422963	T	TA	G73422964A	ALMS1	NM_001378454.1(ALMS1):c.753_754insA:p.Ala252fs	coding	Pathogenic/Likely_pathogenic
2	73424454	T	TA	C73424456A	ALMS1	NM_001378454.1(ALMS1):c.790dup:p.Thr264fs	coding	Pathogenic
2	73424497	TTC	T	T73424498C	ALMS1	NM_001378454.1(ALMS1):c.833_834del:p.Phe278fs	coding	Pathogenic/Likely_pathogenic
2	73424534	GC	G	C73424535A	ALMS1	NM_001378454.1(ALMS1):c.870del:p.Ser290fs	coding	Pathogenic
2	73424754	TA	T	A73424757G	ALMS1	NM_001378454.1(ALMS1):c.1092del:p.Asp365fs	coding	Pathogenic/Likely_pathogenic
2	73426545	CAAAG	C	A73426550G	ALMS1	NM_001378454.1(ALMS1):c.1335_1338del:p.Arg445fs	coding	Pathogenic
2	73432271	CT	C	T73432272C	ALMS1	NM_001378454.1(ALMS1):c.1413del:p.Pro472fs	coding	Pathogenic
2	73432460	TATCTTAGTACTTTAAGTATGGCTTATAAACAACAGAAATTTGTTTCTTGCAGTTCTAGAGGCTGGTTCCAAGATCAAGTGCTGGGAGATTCAGTGTCTTGTGAGGGCCTGTTTGTCATAGATGACATGTTCCTCTGTGCCCTCCCATGGTGGAAGGGGCAGGGGGTCTCTCTGGAGTCGTTTTTTGTAATGGGCACTAATCCCAAACATGTGGCCTGTGTCCTCATGATCTAATTGCTTTCCAAAAGCCTTACCTCCTTAATTTCATCACCTTGGGGATTAGGATTTCAACCTATACTTTTCAGGGGGGACACAAACATTCAGACCATCACAAGTCCCCTGATGTTTTATTAGAGGAATCATTTGGTTTTTCATCGCATTCTACATGGCAGTGTTTAGAACTGAATTATATGGAGGAGTCTGATGTTAGAATCTGTTTATTCCTTTGTGTGACTTGAAGGGAAAAAGGAATTGATTGAGCCCAAGATGACAAGAGTGGATGCAGATAAGTTTGTAGAGAGGAAATTGAGAGAAATCAGTTTTGAGGTAAAAGCAAGATTATCTGCTGAGGGAGGTGAGTAGTGGTGGAATTAGGTTAGAGGCATTGAGGAGAGTGGTTTGGTGAAGACTTACAGTTTATGTTG	T	T73432462A	ALMS1	NM_001378454.1(ALMS1):c.1432+171_1432+813del	noncoding	Benign
2	73447890	C	CT	C73447897T	ALMS1	NM_001378454.1(ALMS1):c.1433-64dup	noncoding	Benign
2	73447946	C	CTCT	T73447951C	ALMS1	NM_001378454.1(ALMS1):c.1433-12_1433-10dup	noncoding	Benign
2	73447991	TACTC	T	C73447993A	ALMS1	NM_001378454.1(ALMS1):c.1466_1469del:p.Thr489fs	coding	Pathogenic
2	73448435	AC	A	C73448437A	ALMS1	NM_001378454.1(ALMS1):c.1910del:p.Pro637fs	coding	Pathogenic
2	73448466	GA	G	A73448468G	ALMS1	NM_001378454.1(ALMS1):c.1941del:p.Val648fs	coding	Pathogenic/Likely_pathogenic
2	73448590	T	TAA	C73448593A	ALMS1	NM_001378454.1(ALMS1):c.2064_2065dup:p.Thr689fs	coding	Pathogenic
2	73448744	TC	T	C73448745T	ALMS1	NM_001378454.1(ALMS1):c.2218del:p.Thr741fs	coding	Pathogenic
2	73448747	T	TA	C73448749A	ALMS1	NM_001378454.1(ALMS1):c.2221dup:p.Thr741fs	coding	Pathogenic/Likely_pathogenic
2	73448750	T	TAA	G73448754A	ALMS1	NM_001378454.1(ALMS1):c.2225_2226dup:p.Val743fs	coding	Pathogenic
2	73448839	GTA	G	A73448841T	ALMS1	NM_001378454.1(ALMS1):c.2314_2315del:p.Ile772fs	coding	Pathogenic
2	73448895	GTT	G	T73448897C	ALMS1	NM_001378454.1(ALMS1):c.2370_2371del:p.Ala792fs	coding	Pathogenic
2	73448966	CAG	C	G73448972A	ALMS1	NM_001378454.1(ALMS1):c.2445_2446del:p.Lys816fs	coding	Pathogenic
2	73449213	CA	C	A73449214G	ALMS1	NM_001378454.1(ALMS1):c.2687del:p.Gln896fs	coding	Pathogenic
2	73449273	A	AT	C73449280T	ALMS1	NM_001378454.1(ALMS1):c.2752dup:p.Ser918fs	coding	Pathogenic/Likely_pathogenic
2	73449408	TC	T	C73449409T	ALMS1	NM_001378454.1(ALMS1):c.2882del:p.Ser961fs	coding	Pathogenic
2	73449435	CCAGA	C	A73449439T	ALMS1	NM_001378454.1(ALMS1):c.2912_2915del:p.Asp971fs	coding	Pathogenic
2	73449452	T	TAG	A73449458G	ALMS1	NM_001378454.1(ALMS1):c.2929_2930dup:p.Ser978fs	coding	Pathogenic
2	73449458	ATC	A	C73449462G	ALMS1	NM_001378454.1(ALMS1):c.2935_2936del:p.Leu979fs	coding	Pathogenic
2	73449519	GTACC	G	A73449521T	ALMS1	NM_001378454.1(ALMS1):c.2994_2997del:p.Pro999fs	coding	Pathogenic
2	73449538	CA	C	A73449539C	ALMS1	NM_001378454.1(ALMS1):c.3012del:p.His1005fs	coding	Pathogenic
2	73449583	ATAGT	A	G73449586T	ALMS1	NM_001378454.1(ALMS1):c.3059_3062del:p.Ser1020fs	coding	Pathogenic
2	73449720	TCAGA	T	A73449724T	ALMS1	NM_001378454.1(ALMS1):c.3197_3200del:p.Asp1066fs	coding	Pathogenic
2	73449901	TAG	T	A73449902C	ALMS1	NM_001378454.1(ALMS1):c.3375_3376del:p.Ala1126fs	coding	Pathogenic
2	73450049	T	TA	C73450051A	ALMS1	NM_001378454.1(ALMS1):c.3523dup:p.Thr1175fs	coding	Pathogenic
2	73450051	CTG	C	T73450052G	ALMS1	NM_001378454.1(ALMS1):c.3525_3526del:p.Gly1176fs	coding	Pathogenic
2	73450083	AGAGTACTT	A	G73450084T	ALMS1	NM_001378454.1(ALMS1):c.3557_3564del:p.Arg1186fs	coding	Pathogenic
2	73450429	TGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTC	T	G73450430T	ALMS1	NM_001378454.1(ALMS1):c.3903_4072del:p.Leu1301fs	coding	Pathogenic
2	73450480	GAC	G	A73450481C	ALMS1	NM_001378454.1(ALMS1):c.3954_3955del:p.Pro1319fs	coding	Pathogenic
2	73450530	TCA	T	C73450537G	ALMS1	NM_001378454.1(ALMS1):c.4010_4011del:p.Thr1337fs	coding	Pathogenic
2	73450564	AG	A	G73450566T	ALMS1	NM_001378454.1(ALMS1):c.4039del:p.Val1347fs	coding	Pathogenic
2	73450668	TACTC	T	T73450671A	ALMS1	NM_001378454.1(ALMS1):c.4144_4147del:p.Ser1382fs	coding	Pathogenic
2	73450706	AC	GT	A73450706G	ALMS1	NM_001378454.1(ALMS1):c.4179_4180inv:p.Gln1394Ter	coding	Pathogenic
2	73450747	A	AC	G73450749C	ALMS1	NM_001378454.1(ALMS1):c.4221dup:p.Val1408fs	coding	Pathogenic
2	73450774	AC	A	C73450776G	ALMS1	NM_001378454.1(ALMS1):c.4249del:p.Arg1417fs	coding	Pathogenic/Likely_pathogenic
2	73450936	CTG	C	G73450938A	ALMS1	NM_001378454.1(ALMS1):c.4411_4412del:p.Val1471fs	coding	Pathogenic
2	73451070	GC	G	C73451071A	ALMS1	NM_001378454.1(ALMS1):c.4544del:p.Ala1515fs	coding	Pathogenic
2	73451246	TG	T	G73451248A	ALMS1	NM_001378454.1(ALMS1):c.4721del:p.Gly1574fs	coding	Pathogenic
2	73451441	TAAAG	T	A73451443G	ALMS1	NM_001378454.1(ALMS1):c.4916_4919del:p.Lys1639fs	coding	Pathogenic
2	73451724	CAA	C	A73451725G	ALMS1	NM_001378454.1(ALMS1):c.5198_5199del:p.Gln1733fs	coding	Pathogenic
2	73451739	GT	G	T73451742C	ALMS1	NM_001378454.1(ALMS1):c.5215del:p.Ser1739fs	coding	Pathogenic
2	73451806	CA	C	A73451807C	ALMS1	NM_001378454.1(ALMS1):c.5280del:p.His1761fs	coding	Pathogenic
2	73451946	TCACA	T	C73451949G	ALMS1	NM_001378454.1(ALMS1):c.5422_5425del:p.His1808fs	coding	Pathogenic
2	73451987	GC	G	C73451989G	ALMS1	NM_001378454.1(ALMS1):c.5462del:p.Pro1821fs	coding	Pathogenic/Likely_pathogenic
2	73452179	GAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCAC	G	G73452182A	ALMS1	NM_001378454.1(ALMS1):c.5655_6063del:p.Lys1885_Thr1886insTer	coding	Pathogenic
2	73452221	TAGAG	T	G73452225A	ALMS1	NM_001378454.1(ALMS1):c.5698_5701del:p.Glu1900fs	coding	Pathogenic
2	73452276	GCTTT	G	C73452277A	ALMS1	NM_001378454.1(ALMS1):c.5750_5753del:p.Ala1917fs	coding	Pathogenic
2	73452347	C	CT	A73452349T	ALMS1	NM_001378454.1(ALMS1):c.5821dup:p.Tyr1941fs	coding	Pathogenic
2	73452375	ATC	A	T73452380A	ALMS1	NM_001378454.1(ALMS1):c.5853_5854del:p.Gln1952fs	coding	Pathogenic
2	73452503	TAA	T	A73452505G	ALMS1	NM_001378454.1(ALMS1):c.5978_5979del:p.Lys1993fs	coding	Pathogenic/Likely_pathogenic
2	73452645	TC	T	C73452648A	ALMS1	NM_001378454.1(ALMS1):c.6121del:p.Gln2041fs	coding	Pathogenic
2	73452689	C	CAA	T73452692A	ALMS1	NM_001378454.1(ALMS1):c.6163_6164dup:p.Asn2055fs	coding	Pathogenic
2	73453054	A	AT	C73453056T	ALMS1	NM_001378454.1(ALMS1):c.6528dup:p.Gln2177fs	coding	Pathogenic
2	73453179	T	TCAAATAATGTGCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGC	A73453196T	ALMS1	NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT:p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer	coding	Pathogenic
2	73453209	GAT	G	A73453210G	ALMS1	NM_001378454.1(ALMS1):c.6683_6684del:p.Asp2228fs	coding	Pathogenic
2	73453214	C	CA	G73453216A	ALMS1	NM_001378454.1(ALMS1):c.6688dup:p.Arg2230fs	coding	Pathogenic
2	73453236	G	GA	T73453239A	ALMS1	NM_001378454.1(ALMS1):c.6711dup:p.Ser2238fs	coding	Pathogenic
2	73453295	TA	T	A73453299C	ALMS1	NM_001378454.1(ALMS1):c.6772del:p.Thr2258fs	coding	Pathogenic/Likely_pathogenic
2	73453339	A	AT	A73453341T	ALMS1	NM_001378454.1(ALMS1):c.6813dup:p.Met2272fs	coding	Pathogenic
2	73453360	AT	A	T73453364C	ALMS1	NM_001378454.1(ALMS1):c.6837del:p.Pro2280fs	coding	Pathogenic/Likely_pathogenic
2	73453418	TA	T	A73453420G	ALMS1	NM_001378454.1(ALMS1):c.6893del:p.Lys2298fs	coding	Pathogenic
2	73453423	AG	A	G73453425T	ALMS1	NM_001378454.1(ALMS1):c.6898del:p.Val2300fs	coding	Pathogenic/Likely_pathogenic
2	73453442	AC	A	C73453445T	ALMS1	NM_001378454.1(ALMS1):c.6918del:p.Ser2307fs	coding	Pathogenic
2	73453858	T	TA	C73453862A	ALMS1	NM_001378454.1(ALMS1):c.7334dup:p.Asn2445fs	coding	Pathogenic
2	73453893	ATAAC	A	T73453894A	ALMS1	NM_001378454.1(ALMS1):c.7367_7370del:p.Ile2456fs	coding	Pathogenic
2	73453897	CAGAT	C	A73453900C	ALMS1	NM_001378454.1(ALMS1):c.7373_7376del:p.Asp2458fs	coding	Pathogenic/Likely_pathogenic
2	73489682	A	AGTCACATTATTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCC	G73489697T	ALMS1	NM_001378454.1(ALMS1):c.7737_7738insTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCGTCACATTATTATT:p.Ile2579_Glu2580insPhePhePhePhePhePheXaaXaaXaaXaaGlyValLeuLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnProLeuProProArgLeuLysArgPheSerCysLeuSerLeuArgHisIleIleIle	coding	Pathogenic
2	73489822	A	AT	G73489824T	ALMS1	NM_001378454.1(ALMS1):c.7864dup:p.Cys2622fs	coding	Pathogenic
2	73490000	T	TATTAGAATTAG	C73490001A	ALMS1	NM_001378454.1(ALMS1):c.8041_8042insATTAGAATTAG:p.Ser2681delinsTyrTer	coding	Pathogenic
2	73490067	CG	C	G73490068T	ALMS1	NM_001378454.1(ALMS1):c.8109del:p.Ser2704fs	coding	Pathogenic
2	73490089	GT	G	T73490092A	ALMS1	NM_001378454.1(ALMS1):c.8133del:p.Phe2711fs	coding	Pathogenic/Likely_pathogenic
2	73490106	C	CT	C73490112T	ALMS1	NM_001378454.1(ALMS1):c.8152dup:p.Ser2718fs	coding	Pathogenic/Likely_pathogenic
2	73490106	CTT	C	T73490110C	ALMS1	NM_001378454.1(ALMS1):c.8151_8152del:p.Ser2718fs	coding	Pathogenic
2	73490129	AAATGCATTTCC	A	G73490133T	ALMS1	NM_001378454.1(ALMS1):c.8174_8184del:p.Cys2725fs	coding	Pathogenic
2	73490199	T	TG	T73490205G	ALMS1	NM_001378454.1(ALMS1):c.8245dup:p.Val2749fs	coding	Pathogenic
2	73490205	TATTTA	T	T73490209C	ALMS1	NM_001378454.1(ALMS1):c.8250_8254del:p.Asn2751fs	coding	Pathogenic
2	73490305	TAAAG	T	A73490308G	ALMS1	NM_001378454.1(ALMS1):c.8349_8352del:p.Lys2783_Glu2784insTer	coding	Pathogenic/Likely_pathogenic
2	73490553	TA	T	A73490557G	ALMS1	NM_001378454.1(ALMS1):c.8598del:p.Glu2867fs	coding	Pathogenic
2	73490589	C	CG	T73490590G	ALMS1	NM_001378454.1(ALMS1):c.8630_8631insG:p.Ser2878fs	coding	Pathogenic
2	73490608	AC	A	C73490609A	ALMS1	NM_001378454.1(ALMS1):c.8650del:p.Gln2884fs	coding	Pathogenic
2	73490709	ACCTT	A	C73490715T	ALMS1	NM_001378454.1(ALMS1):c.8756_8759del:p.Pro2919fs	coding	Pathogenic/Likely_pathogenic
2	73490723	A	AT	C73490729T	ALMS1	NM_001378454.1(ALMS1):c.8769dup:p.Leu2924fs	coding	Pathogenic
2	73490811	AAGGTC	A	T73490815A	ALMS1	NM_001378454.1(ALMS1):c.8856_8860del:p.Gln2953fs	coding	Pathogenic
2	73490814	G	GTCAAGCTATAGAATCC	G73490818A	ALMS1	NM_001378454.1(ALMS1):c.8858_8859insAGCTATAGAATCCTCA:p.Asp2954fs	coding	Pathogenic
2	73491107	ACT	A	C73491110T	ALMS1	NM_001378454.1(ALMS1):c.9151_9152del:p.Cys3052fs	coding	Pathogenic/Likely_pathogenic
2	73491225	C	CTG	A73491229G	ALMS1	NM_001378454.1(ALMS1):c.9268_9269dup:p.Ser3091fs	coding	Pathogenic
2	73491297	CTT	C	T73491299A	ALMS1	NM_001378454.1(ALMS1):c.9340_9341del:p.Leu3114fs	coding	Pathogenic
2	73519780	CA	C	A73519781G	ALMS1	NM_001378454.1(ALMS1):c.9546del:p.Glu3183fs	coding	Pathogenic
2	73519934	TA	T	A73519936C	ALMS1	NM_001378454.1(ALMS1):c.9701del:p.Asn3234fs	coding	Pathogenic
2	73557265	AC	A	C73557266A	ALMS1	NM_001378454.1(ALMS1):c.10125del:p.Asp3375fs	coding	Pathogenic
2	73559004	GC	G	C73559005T	ALMS1	NM_001378454.1(ALMS1):c.10247del:p.Ala3416fs	coding	Pathogenic
2	73559017	AC	A	C73559020A	ALMS1	NM_001378454.1(ALMS1):c.10262del:p.Pro3421fs	coding	Pathogenic/Likely_pathogenic
2	73559050	C	CT	C73559051T	ALMS1	NM_001378454.1(ALMS1):c.10292_10293insT:p.Ile3432fs	coding	Pathogenic
2	73559314	C	CTA	G73559329T	ALMS1	NM_001378454.1(ALMS1):c.10384+173TA[8]	noncoding	Benign
2	73572297	CG	C	G73572298T	ALMS1	NM_001378454.1(ALMS1):c.10421del:p.Arg3474fs	coding	Pathogenic
2	73572406	C	CTGGAATGTCTTTCCAAGAT	T73572408G	ALMS1	NM_001378454.1(ALMS1):c.10530_10531insGGAATGTCTTTCCAAGATT:p.Trp3511fs	coding	Pathogenic
2	73572432	CCAGA	C	G73572435A	ALMS1	NM_001378454.1(ALMS1):c.10558_10561del:p.Asp3520fs	coding	Pathogenic
2	73572454	TG	T	G73572455T	ALMS1	NM_001378454.1(ALMS1):c.10578del:p.Met3526fs	coding	Pathogenic/Likely_pathogenic
2	73572492	AAGAC	A	C73572496T	ALMS1	NM_001378454.1(ALMS1):c.10619_10622del:p.Thr3540fs	coding	Pathogenic
2	73572544	AC	A	C73572545A	ALMS1	NM_001378454.1(ALMS1):c.10668del:p.Asn3556fs	coding	Pathogenic
2	73572627	C	CAGAAGGTCACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A73572643G	ALMS1	NM_001378454.1(ALMS1):c.10765_10766insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGGTCACCCCAG:p.Pro3588_Glu3589insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleLeuAlaAsnThrValLysProArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysValThrPro	coding	Pathogenic
2	73572642	GA	G	A73572643G	ALMS1	NM_001378454.1(ALMS1):c.10766del:p.Glu3589fs	coding	Pathogenic
2	73572645	CA	C	A73572648C	ALMS1	NM_001378454.1(ALMS1):c.10771del:p.Thr3591fs	coding	Pathogenic
2	73572911	G	GT	A73572915T	ALMS1	NM_001378454.1(ALMS1):c.11037dup:p.Lys3680Ter	coding	Pathogenic
2	73572953	T	TA	G73572961A	ALMS1	NM_001378454.1(ALMS1):c.11083dup:p.Ser3695fs	coding	Pathogenic/Likely_pathogenic
2	73572986	TGGGAGGTCTAATCAAATTA	T	G73572987A	ALMS1	NM_001378454.1(ALMS1):c.11110_11128del:p.Gly3704fs	coding	Pathogenic
2	73573287	AG	A	G73573288A	ALMS1	NM_001378454.1(ALMS1):c.11411del:p.Arg3804fs	coding	Pathogenic
2	73573290	CGAATT	C	G73573291A	ALMS1	NM_001378454.1(ALMS1):c.11414_11418del:p.Arg3805fs	coding	Pathogenic
2	73599391	AT	A	T73599396C	ALMS1	NM_001378454.1(ALMS1):c.11548-5del	noncoding	Benign
2	73599399	AG	A	G73599401T	ALMS1	NM_015120.4(ALMS1):c.11551del	noncoding	Pathogenic
2	73599429	C	CT	A73599431T	ALMS1	NM_001378454.1(ALMS1):c.11577dup:p.Ile3860fs	coding	Pathogenic
2	73599450	G	GT	C73599454T	ALMS1	NM_001378454.1(ALMS1):c.11600dup:p.Leu3868fs	coding	Pathogenic
2	73599519	CA	C	A73599520G	ALMS1	NM_001378454.1(ALMS1):c.11667del:p.Gly3890fs	coding	Pathogenic/Likely_pathogenic
2	73600696	AC	A	C73600697G	ALMS1	NM_001378454.1(ALMS1):c.11688del:p.Asn3896fs	coding	Pathogenic
2	73600703	CA	C	A73600709C	ALMS1	NM_001378454.1(ALMS1):c.11700del:p.Lys3900fs	coding	Pathogenic/Likely_pathogenic
2	73600772	GA	G	A73600774C	ALMS1	NM_001378454.1(ALMS1):c.11765del:p.Asn3922fs	coding	Pathogenic
2	73600790	TTGGTCAGAAGAAA	T	T73600791A	ALMS1	NM_001378454.1(ALMS1):c.11782_11794del:p.Trp3928fs	coding	Pathogenic
2	73600852	TAAAA	T	A73600855G	ALMS1	NM_001378454.1(ALMS1):c.11846_11849del:p.Lys3949fs	coding	Pathogenic
2	73600852	TA	T	A73600858G	ALMS1	NM_001378454.1(ALMS1):c.11849del:p.Lys3950fs	coding	Pathogenic
2	73600879	AAG	A	A73600880G	ALMS1	NM_001378454.1(ALMS1):c.11871_11872del:p.Gly3958fs	coding	Pathogenic
2	73601197	GTT	G	T73601199C	ALMS1	NM_001378454.1(ALMS1):c.11877_11878del:p.Ser3960fs	coding	Pathogenic
2	73601223	TGTGGA	T	G73601226C	ALMS1	NM_001378454.1(ALMS1):c.11904_11908del:p.Val3968_Glu3969insTer	coding	Pathogenic
2	73601378	GC	G	C73601381A	ALMS1	NM_001378454.1(ALMS1):c.12059del:p.Pro4020fs	coding	Pathogenic
2	73601431	C	CT	C73601434T	ALMS1	NM_001378454.1(ALMS1):c.12111dup:p.Gln4038fs	coding	Pathogenic
2	73602167	C	CT	C73602178T	ALMS1	NM_001378454.1(ALMS1):c.12115-8dup	noncoding	Benign
2	73602219	CCCGCTCTGGGGAG	C	C73602221G	ALMS1	NM_001378454.1(ALMS1):c.12151_12163del:p.Arg4051fs	coding	Pathogenic
2	73603263	CA	C	A73603265G	ALMS1	NM_001378454.1(ALMS1):c.12323del:p.Lys4108fs	coding	Pathogenic/Likely_pathogenic
2	73603280	AG	A	G73603282A	ALMS1	NM_001378454.1(ALMS1):c.12340del:p.Glu4114fs	coding	Pathogenic
2	73603454	G	GA	G73603467A	ALMS1	NM_001378454.1(ALMS1):c.12362+162dup	noncoding	Benign
2	73729813	CT	C	T73729829A	TPRKB	Single_allele	noncoding	Benign
2	73730743	GA	G	A73730751T	TPRKB	NM_016058.5(TPRKB):c.265-8del	noncoding	Benign
2	73732707	C	CA	C73732722A	TPRKB	NM_016058.5(TPRKB):c.142-423dup	noncoding	Benign
2	73847081	C	CAAA	G73847099A	STAMBP	NM_213622.4(STAMBP):c.376-291_376-289dup	noncoding	Benign
2	73847081	C	CAA	G73847099A	STAMBP	NM_213622.4(STAMBP):c.376-290_376-289dup	noncoding	Benign
2	73849462	CAT	C	A73849463G	STAMBP	NM_213622.4(STAMBP):c.843_844del:p.Cys282fs	coding	Pathogenic
2	73849495	G	GA	C73849506A	STAMBP	NM_213622.4(STAMBP):c.867+18dup	noncoding	Benign
2	73860038	T	TTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGTATTGA	A73860043T	STAMBP	NM_213622.4(STAMBP):c.1119-10_1119-9insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGTATTGATTTT	noncoding	Benign
2	73860145	GT	G	T73860147C	STAMBP	NM_213622.4(STAMBP):c.1214del:p.Phe405fs	coding	Pathogenic
2	73926514	TG	T	G73926524A	DGUOK	Single_allele	noncoding	Benign
2	73926861	GGGCGGAAGTGCTCTC	G	C73926872A	DGUOK	Single_allele	noncoding	Benign
2	74046256	T	TC	T74046262C	TET3	NM_001287491.2(TET3):c.361-17dup	noncoding	Benign
2	74048077	T	TAGCTTTGGGCTTCCCGGCCCCCC	T74048101A	TET3	NM_001287491.2(TET3):c.2161_2183dup:p.Ser729fs	coding	Pathogenic
2	74135332	T	TAGC	G74135338C	BOLA3	Single_allele	noncoding	Benign
2	74148139	CAGTCTCCCCA	C	A74148140G	BOLA3	NR_045634.1(BOLA3-DT):n.160_169del	noncoding	Benign
2	74362028	CCTCCACCCCATG	C	A74362033C	DCTN1	NM_004082.5(DCTN1):c.3699+12_3699+23del	noncoding	Benign
2	74369041	G	GA	C74369043A	DCTN1	NM_004082.5(DCTN1):c.1701+56dup	noncoding	Benign
2	74369816	GA	G	A74369836G	DCTN1	NM_004082.5(DCTN1):c.1392+148del	noncoding	Benign
2	74371872	AAAG	A	G74371878T	DCTN1	NM_004082.5(DCTN1):c.454-147_454-145del	noncoding	Benign
2	74374479	CAGG	C	G74374482A	DCTN1	NM_004082.5(DCTN1):c.415-142_415-140del	coding	Benign
2	74377415	AC	A	C74377420A	DCTN1	NM_004082.5(DCTN1):c.393+16del	noncoding	Benign
2	74377737	A	ATTCAATATAGCCAGATCAATAGT	G74377780T	DCTN1	NM_004082.5(DCTN1):c.280-34_280-12dup	noncoding	Benign/Likely_benign
2	74462906	CA	C	A74462907G	MOGS	NM_006302.3(MOGS):c.882del:p.Glu295fs	coding	Pathogenic/Likely_pathogenic
2	74530680	T	TG	C74530684G	HTRA2	NM_013247.5(HTRA2):c.573dup:p.Leu192fs	coding	Pathogenic
2	74531604	AG	A	G74531606T	HTRA2	NM_013247.5(HTRA2):c.949del:p.Glu316_Val317insTer	coding	Pathogenic
2	74549466	GC	G	C74549467G	LOXL3	NM_032603.5(LOXL3):c.594del:p.Gln199fs	coding	Pathogenic
2	74552595	G	GC	A74552601C	LOXL3	NM_032603.5(LOXL3):c.39dup:p.Leu14fs	coding	Pathogenic
2	74552785	G	GC	A74552790C	LOXL3	NM_032603.5(LOXL3):c.-12-140dup	noncoding	Benign
2	80619022	C	CT	C80619036T	CTNNA2	NM_001282597.3(CTNNA2):c.2431-50dup	noncoding	Benign
2	84431608	AT	A	T84431611C	SUCLG1	NM_003849.4(SUCLG1):c.724del:p.Ile242fs	coding	Pathogenic
2	84441134	TA	T	A84441144G	SUCLG1	NM_003849.4(SUCLG1):c.532-31del	noncoding	Benign
2	84441231	G	GT	G84441239T	SUCLG1	NM_003849.4(SUCLG1):c.531+9dup	noncoding	Benign/Likely_benign
2	84441231	GT	G	T84441238G	SUCLG1	NM_003849.4(SUCLG1):c.531+15del	noncoding	Benign
2	84449679	CTT	C	T84449681G	SUCLG1	NM_003849.4(SUCLG1):c.169_170del:p.Lys57fs	coding	Pathogenic
2	84449762	TAA	T	A84449786G	SUCLG1	NM_003849.4(SUCLG1):c.98-12_98-11del	noncoding	Benign
2	84449762	TA	T	A84449787G	SUCLG1	NM_003849.4(SUCLG1):c.98-11del	noncoding	Benign
2	84528872	A	AT	C84528884T	DNAH6	NM_001370.2(DNAH6):c.400-21dup	noncoding	Benign
2	84528872	A	ATT	C84528884T	DNAH6	NM_001370.2(DNAH6):c.400-22_400-21dup	noncoding	Benign
2	84593806	GT	G	T84593819C	DNAH6	NM_001370.2(DNAH6):c.2611-153del	noncoding	Benign
2	84594283	G	GA	G84594284A	DNAH6	NM_001370.2(DNAH6):c.2724+198_2724+199insA	noncoding	Benign
2	84605352	CA	C	A84605370G	DNAH6	NM_001370.2(DNAH6):c.3082-130del	noncoding	Benign
2	84688238	C	CA	G84688256A	DNAH6	NM_001370.2(DNAH6):c.7138-184dup	noncoding	Benign
2	84699944	AG	A	G84699945T	DNAH6	NM_001370.2(DNAH6):c.7818+211del	noncoding	Benign
2	84733798	CA	C	A84733799C	DNAH6	NM_001370.2(DNAH6):c.10342+220del	noncoding	Benign
2	84787517	C	CA	T84787520A	DNAH6	NM_001370.2(DNAH6):c.11239+217dup	noncoding	Benign
2	84819085	A	AAAG	T84819086A	DNAH6	NM_001370.2(DNAH6):c.12374-220_12374-219insAAG	noncoding	Benign
2	85283271	C	CCCG	C85283274G	TCF7L1	NM_031283.3(TCF7L1):c.442-222_442-221insGCC	noncoding	Benign
2	85356880	C	CAA	T85356896A	ELMOD3	NM_001135022.2(ELMOD3):c.-232-73_-232-72dup	noncoding	Benign
2	85541019	G	GCATA	T85541037A	MAT2A	NM_005911.6(MAT2A):c.92-63CATA[5]	noncoding	Benign
2	85550765	GAA	G	A85550770G	GGCX	NM_000821.7(GGCX):c.1889-17_1889-16del	noncoding	Benign/Likely_benign
2	85552079	TAGA	T	G85552087A	GGCX	NM_000821.7(GGCX):c.1440-107TCT[2]	noncoding	Benign
2	85556027	GA	G	A85556033T	GGCX	NM_000821.7(GGCX):c.618+154del	noncoding	Benign
2	85560606	G	GA	G85560619A	GGCX	NM_000821.7(GGCX):c.214+197dup	noncoding	Benign
2	85561278	GA	G	A85561279C	GGCX	NM_000821.7(GGCX):c.43+107del	noncoding	Benign
2	85561279	AC	A	C85561289G	GGCX	NM_000821.7(GGCX):c.43+106del	noncoding	Benign
2	85663508	TA	T	A85663509G	SFTPB	NM_000542.5(SFTPB):c.857-18del	noncoding	Benign
2	85665606	CT	C	T85665607G	SFTPB	NM_000542.5(SFTPB):c.581del:p.Gln194fs	coding	Pathogenic
2	85666359	C	CTG	C85666375G	SFTPB	NM_000542.5(SFTPB):c.393+244CA[8]	noncoding	Benign
2	85666391	C	CTG	C85666407G	SFTPB	NM_000542.5(SFTPB):c.393+212CA[8]	noncoding	Benign
2	85666423	T	TTG	C85666447G	SFTPB	NM_000542.5(SFTPB):c.393+172CA[12]	noncoding	Benign
2	85666493	C	CTG	C85666523G	SFTPB	NM_000542.5(SFTPB):c.393+96CA[15]	noncoding	Benign
2	85666493	CTG	C	G85666521C	SFTPB	NM_000542.5(SFTPB):c.393+96CA[13]	noncoding	Benign
2	85666493	CTGTG	C	G85666519C	SFTPB	NM_000542.5(SFTPB):c.393+96CA[12]	noncoding	Benign
2	85666644	CA	C	A85666645G	SFTPB	NM_000542.5(SFTPB):c.365del:p.Leu122fs	coding	Pathogenic
2	85667445	TC	T	C85667448T	SFTPB	NM_000542.5(SFTPB):c.195+233del	noncoding	Benign
2	85840369	AAT	A	A85840370G	ST3GAL5	NM_003896.4(ST3GAL5):c.1030_1031del:p.Ile344fs	coding	Pathogenic
2	85846431	TA	T	A85846435C	ST3GAL5	NM_003896.4(ST3GAL5):c.794del:p.Leu265fs	coding	Pathogenic/Likely_pathogenic
2	85847843	C	CA	C85847852A	ST3GAL5	NM_003896.4(ST3GAL5):c.662+17dup	noncoding	Benign
2	85847955	TG	T	G85847957C	ST3GAL5	NM_003896.4(ST3GAL5):c.567del:p.Lys190fs	coding	Pathogenic
2	85848190	A	AT	A85848192T	ST3GAL5	NM_003896.4(ST3GAL5):c.332dup:p.Tyr111Ter	coding	Pathogenic
2	85888866	GGGGACGCC	G	G85888868C	ST3GAL5	NM_003896.4(ST3GAL5):c.32_39del:p.Arg11fs	coding	Pathogenic
2	86040573	T	TG	T86040580G	POLR1A	NM_015425.6(POLR1A):c.3573-15dup	noncoding	Benign
2	86042768	CCA	C	C86042769G	POLR1A	NM_015425.6(POLR1A):c.3357+204_3357+205del	noncoding	Benign
2	86043213	AAAAC	A	C86043225T	POLR1A	NM_015425.6(POLR1A):c.3136-30GTTT[2]	noncoding	Benign
2	86077801	ACG	A	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+48CG[4]	noncoding	Benign
2	86077809	GCGCACACACACACACACACACA	G	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+28_1380+49del	noncoding	Benign
2	86077809	GCGCACACACACACACACA	G	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+32_1380+49del	noncoding	Benign
2	86077809	GCGCACACACACACACA	G	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+34_1380+49del	noncoding	Benign
2	86077809	GCGCACACACACACA	G	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+36_1380+49del	noncoding	Benign
2	86077809	GCGCACACACACA	G	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+38_1380+49del	noncoding	Benign
2	86077809	GCGCACACACA	G	G86077811A	POLR1A	NM_015425.6(POLR1A):c.1380+40_1380+49del	noncoding	Benign
2	86077811	GCACACACA	G	A86077851C	POLR1A	NM_015425.6(POLR1A):c.1380+2TG[19]	noncoding	Benign
2	86080761	CAG	C	A86080764T	POLR1A	NM_015425.6(POLR1A):c.1086+53_1086+54del	noncoding	Benign
2	86217124	CAGAA	C	A86217127G	REEP1	NM_001371279.1(REEP1):c.784-18_784-15del	noncoding	Benign/Likely_benign
2	86232741	CT	C	T86232742G	REEP1	NM_001371279.1(REEP1):c.478del:p.Arg160fs	coding	Pathogenic
2	86232769	A	AG	C86232771G	REEP1	NM_001371279.1(REEP1):c.450dup:p.Phe151fs	coding	Pathogenic
2	86240023	GC	G	C86240026T	REEP1	NM_001371279.1(REEP1):c.418-7222del	noncoding	Benign
2	86252029	G	GT	A86252031T	REEP1	NM_001371279.1(REEP1):c.344dup:p.Tyr115Ter	coding	Pathogenic
2	86254687	ATATTAC	GT	A86254687G	REEP1	NM_001371279.1(REEP1):c.303+1_303+7delinsAC	noncoding	Pathogenic
2	86254693	CCTTTT	C	C86254699G	REEP1	NM_001371279.1(REEP1):c.299_303del:p.Glu100fs	noncoding	Pathogenic
2	86254747	AG	A	G86254748C	REEP1	NM_001371279.1(REEP1):c.249del:p.Ser84fs	coding	Pathogenic
2	86263919	TA	T	A86263921G	REEP1	NM_001371279.1(REEP1):c.182+45del	noncoding	Benign
2	86263971	AG	A	G86263973A	REEP1	NM_001371279.1(REEP1):c.175del:p.Leu59fs	coding	Pathogenic
2	86264040	AC	A	C86264042T	REEP1	NM_022912.2(REEP1):c.106delG	coding	Pathogenic
2	86281698	A	AT	C86281699T	REEP1	NM_001371279.1(REEP1):c.105+471_105+472insA	noncoding	Pathogenic
2	86282200	C	CT	G86282203T	REEP1	NM_001371279.1(REEP1):c.74dup:p.Ala26fs	coding	Pathogenic
2	86282202	TG	T	G86282203T	REEP1	NM_001371279.1(REEP1):c.72del:p.Ser23_Tyr24insTer	coding	Pathogenic
2	86337543	C	CCGGCT	G86337544C	REEP1	NM_001371279.1(REEP1):c.-34_-33insAGCCG	coding	Benign
2	86338036	C	CT	A86338038T	REEP1	NM_001164730.2(REEP1):c.40dup:p.Arg14fs	coding	Pathogenic
2	86788510	T	TGA	T86788514A	CD8A	NM_001768.7(CD8A):c.656+18_656+19dup	noncoding	Benign
2	88448578	C	CAGT	C88448583G	FOXI3	NM_001135649.3(FOXI3):c.889_891dup:p.Thr297dup	coding	Benign
2	88452181	A	AGGCGGGCGC	G88452202C	FOXI3	NM_001135649.3(FOXI3):c.337GCGCCCGCC[3]:p.113APA[3]	coding	Benign/Likely_benign
2	88452232	A	AG	T88452235G	FOXI3	NM_001135649.3(FOXI3):c.303dup:p.Phe102fs	coding	Benign
2	88557946	TA	T	A88557951T	EIF2AK3	NM_004836.7(EIF2AK3):c.3151-11del	noncoding	Benign
2	88558990	AAAAAGTATCACTT	A	A88558992T	EIF2AK3	NM_004836.7(EIF2AK3):c.3088-24_3088-12del	noncoding	Benign
2	88559124	CAT	C	A88559127G	EIF2AK3	NM_004836.7(EIF2AK3):c.3088-147_3088-146del	noncoding	Benign
2	88562324	G	GC	A88562326C	EIF2AK3	NM_004836.7(EIF2AK3):c.3051dup:p.Leu1018fs	coding	Pathogenic
2	88576631	TCTAACAATGCCCGGGTGTTCAAG	T	A88576634T	EIF2AK3	NM_004836.7(EIF2AK3):c.1936_1958del:p.Leu646fs	coding	Pathogenic
2	88586083	CG	C	G88586084T	EIF2AK3	NM_004836.7(EIF2AK3):c.1430-23del	noncoding	Benign
2	88595206	CAAAAA	C	A88595225C	EIF2AK3	NM_004836.7(EIF2AK3):c.633+258_633+262del	noncoding	Benign
2	88595206	CA	C	A88595229C	EIF2AK3	NM_004836.7(EIF2AK3):c.633+262del	noncoding	Benign
2	88595603	CTTGG	C	T88595605C	EIF2AK3	NM_004836.7(EIF2AK3):c.495_498del:p.Asp165fs	coding	Pathogenic
2	88595680	C	CT	A88595686T	EIF2AK3	NM_004836.7(EIF2AK3):c.439-18dup	noncoding	Benign
2	88627262	TG	T	G88627264C	EIF2AK3	NM_004836.7(EIF2AK3):c.12del:p.Ile5fs	coding	Pathogenic
2	88627870	C	CGTGGCGGATTCTGACT	A88627890G	EIF2AK3	NM_004836.6(EIF2AK3):c.-612_-597dup	noncoding	Benign
2	96254913	G	GC	G96254915C	TMEM127	NM_017849.4(TMEM127):c.328dup:p.Ala110fs	coding	Pathogenic
2	96254950	CG	C	G96254952C	TMEM127	NM_017849.4(TMEM127):c.291del:p.Ala98fs	coding	Pathogenic
2	96265151	CG	C	G96265154T	TMEM127	NM_017849.4(TMEM127):c.230del:p.Pro77fs	coding	Pathogenic
2	96265157	CA	C	A96265158C	TMEM127	NM_017849.4(TMEM127):c.224del:p.Val75fs	coding	Pathogenic
2	96265163	GC	G	C96265166A	TMEM127	NM_017849.4(TMEM127):c.218del:p.Gly73fs	coding	Pathogenic
2	96265179	A	AC	A96265185C	TMEM127	NM_017849.4(TMEM127):c.202dup:p.Val68fs	coding	Pathogenic
2	96265261	T	TA	G96265263A	TMEM127	NM_017849.4(TMEM127):c.120dup:p.Ile41fs	coding	Pathogenic
2	96265333	TCCTCCGCCGGCGCCCGCCGGGCAGC	T	C96265337G	TMEM127	NM_017849.4(TMEM127):c.24_48del:p.Leu9fs	coding	Pathogenic
2	96265357	GC	G	C96265360T	TMEM127	NM_017849.4(TMEM127):c.24del:p.Leu9fs	coding	Pathogenic
2	96265369	CG	C	G96265374C	TMEM127	NM_017849.4(TMEM127):c.12del:p.Gly5fs	coding	Pathogenic
2	96290317	C	CT	C96290319T	SNRNP200	NM_014014.5(SNRNP200):c.2742+8dup	noncoding	Benign
2	96761060	CTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGCCCCCAGCAGGGCACGATCGTGGGCA	C	G96761063A	CNNM4	NM_020184.4(CNNM4):c.64_147del:p.Ala22_Met49del	coding	Pathogenic
2	96761151	T	TG	C96761154G	CNNM4	NM_020184.4(CNNM4):c.154dup:p.Ala52fs	coding	Pathogenic
2	96761277	TC	T	C96761278A	CNNM4	NM_020184.4(CNNM4):c.279del:p.Phe93fs	coding	Pathogenic
2	96761618	ATG	A	T96761619G	CNNM4	NM_020184.4(CNNM4):c.620_621del:p.Met207fs	coding	Pathogenic
2	96761748	AC	A	C96761749G	CNNM4	NM_020184.4(CNNM4):c.750del:p.Asn250fs	coding	Pathogenic
2	97713815	TGTGTGCGG	T	G97713816A	ZAP70	NM_001079.4(ZAP70):c.-100-100_-100-93del	noncoding	Benign
2	97739212	CCA	C	C97739213G	ZAP70	NM_001079.4(ZAP70):c.1737-162_1737-161del	noncoding	Benign
2	98256199	C	CT	G98256211T	VWA3B	NM_144992.5(VWA3B):c.2843+36dup	noncoding	Benign
2	98369983	AG	A	G98369984A	CNGA3	NM_001298.3(CNGA3):c.9del:p.Ile4fs	coding	Pathogenic
2	98370050	CA	C	A98370052T	CNGA3	NM_001298.3(CNGA3):c.77del:p.Asn26fs	coding	Pathogenic
2	98370069	CT	C	T98370070C	CNGA3	NM_001298.3(CNGA3):c.95del:p.Leu32fs	coding	Pathogenic
2	98377747	C	CT	A98377748T	CNGA3	NM_001298.3(CNGA3):c.162_163insT:p.Arg55Ter	coding	Pathogenic
2	98380291	CC	AA	C98380291A	CNGA3	NM_001298.3(CNGA3):c.332_333delinsAA:p.Ser111Ter	coding	Pathogenic/Likely_pathogenic
2	98383394	GC	G	C98383398T	CNGA3	NM_001298.3(CNGA3):c.406del:p.Leu136fs	coding	Pathogenic
2	98389667	GA	G	A98389672G	CNGA3	NM_001298.3(CNGA3):c.464del:p.Lys155fs	coding	Pathogenic
2	98389690	TG	T	G98389692A	CNGA3	NM_001298.3(CNGA3):c.484del:p.Asp162fs	coding	Pathogenic
2	98389727	CG	C	G98389728C	CNGA3	NM_001298.3(CNGA3):c.520del:p.Ala174fs	coding	Pathogenic
2	98393905	ACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGGATTATAGGCATGAGCCACGGCACCCGGCCCTCTGTCACTTTTTGATTTACAACATGTATCTCTAATTTTAAAGGATCCTTTTTTAAAATATGTATATAATTTCCATTTATCTTTTAAAATTTAATAATCATTCTTTGTTATCATGTAATACCCAATTTATATTTAAATTTACTCAATCAACCTATGTTTTAAAAAAATTCAATAGAATAGATTAGAACCTCATAGAATAGAAAATATCAGAGTGCATTTCCTGTAGTAATGGTAAGTGTTGTTTTTGAAATCATTTCTATTATATATGTATCACTGCATACTGTGTAGCCGTGAGGTAAAATATGTTTCTTTGTACTATGGTCAAAAAAAGTCAGCCTCTGTGATGCCCAATGACCTCCATCTTCTTCTTTAGGTTTTCTCGAGCAAGGCTTAATGGTCAGTGATACCAACAGGCTGTGGCAGCATTACAAGACGACCACGCAGTTCAAGCTGGATGTGTTGTCCCTGGTCCCCACCGACCTGGCTTACTTAAAGGTGGGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGACAAGGACCAACTACCCCAATATGTTCAGGATTGGGAACTTGGTCTTGTACATTCTCATCATCATCCACTGGAATGCCTGCATCTACTTTGCCATTTCCAAGTTCATTGGTTTTGGGACAGACTCCTGGGTCTACCCAAACATCTCAATCCCAGAGCATGGGCGCCTCTCCAGGAAGTACATTTACAGTCTCTACTGGTCCACCTTGACCCTTACCACCATTGGTGAGACCCCACCCCCCGTGAAAGATGAGGAGTATCTCTTTGTGGTCGTAGACTTCTTGGTGGGTGTTCTGATTTTTGCCACCATTGTGGGCAATGTGGGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCATCAAGCAGTACATGCAGTTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGGCCAACAAGAAGACGGTGGATGAGAAGGAGGTGCTCAAGAGCCTCCCAGACAAGCTGAAGGCTGAGATCGCCATCAACGTGCACCTGGACACGCTGAAGAAGGTTCGCATCTTCCAGGACTGTGAGGCAGGGCTGCTGGTGGAGCTGGTGCTGAAGCTGCGACCCACTGTGTTCAGCCCTGGGGATTATATCTGCAAGAAGGGAGATATTGGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGATCAGCATTCTGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTACTCAGACCTGTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCGAGTACCCCGAAGCCAAGAAGGCCCTGGAGGAGAAAGGACGGCAGATCCTGATGAAAGACAACCTGATCGATGAGGAGCTGGCCAGGGCGGGCGCGGACCCCAAGGACCTTGAGGAGAAAGTGGAGCAGCTGGGGTCCTCCCTGGACACCCTGCAGACCAGGTTTGCACGCCTCCTGGCTGAGTACAACGCCACCCAGATGAAGATGAAGCAGCGTCTCAGCCAACTGGAAAGCCAGGTGAAGGGTGGTGGGGACAAGCCCCTGGCTGATGGGGAAGTTCCCGGGGATGCTACAAAAACAGAGGACAAACAACAGTGAAAATGCAGCATCTGTCTCCTGCTTCACAGGGTCGACTGTCAGGGTGACCGTATGTGGCCGCAGCTGTGTGGCATGGAACTTGGTCAGGGTTGAATTCCAGCTCTACTCACCCTTTGAAAGCTGTGTGACTGCCTGAGAGAACCTGTTTCTTCACCTAAAAAATGGGACTTTTTGTCTCAGTCCCAGTGAAGTGCCAGGTTTGATTGTGAAGTCCGCATGAAACACTGCACCAGGCAGGGCTTTGCAAAGTGCAAGGTATCCCCAGTCCAAGTATATGAAAACGTGCACACAGGACTCTCATTACTTTTTTATGGAATCTGCAAGGTGTTTTTAGGCTTTTTAATCTGATTTTCTTATAAATGAAAGATTATTTAGTCACCTTTCTCCTGTCCAACTTCACCACCACCTGATAATGGGTATATAACAGGAAGCTGAAGGTACAACATAGTGACTAAAATTCAGACTTACACAAGACAGTTTGAGGCATATTTCTTAATCTGGTATCACCTCGTGTGTTCTTTGGGGCCCTAGAAACCCTGGCTTTTGGGAGTGCTATGGCAAGTAGAAGTTCTGCCGGATGGAAAGAGGCTGCCCCATTTGAGGTCATTTAAAATCTGTGAAGCAAATCCAGACTCCTTGCCGTTCAGCCACTGTGAAACCAGAATCTGCTTCACAGAAAAAAGCATCTCAGTTAGGAGAAGAGACATCCCCTCCTTCTCACTTGCCAAAGAGATTCAAAGACAGCCCCTATCCTCCATTCTTGAGTCAGGGCCCTAGGTGACCTATTCTAACTCAAGGAGGAGAGCTATGTACAGGGAGAGCATTTTAGATTGAAGGTTGGAATGGTGTACTAAACCAAAAAAGCTGACAACTGAGAGTTTTAGAAGATTAGACCATTAGGAACGTATCTTTGCAAACTGCCCATTCACCCATGAAGAGGAAGCCTCAAGATCCCTTGGAATTGCATCCCAAGGCAAAGCTTTTGGCTCACCGAAAGCTCACAGATTGCAGAAATTAGCTTTTTTAAAAAACAAACCCCAGTAAATATAATTTCATTAACATTTTATAACAGATTTATATTTTTGAGTTCCGTGATTGCAAATTATGACCTCAAATTCCATCCTTCACTTATGTAACATGTTGCAAATTACCCAAAGATGAGTCTTTCTTCTTTCTTTCCTTTTTCCTTTCTTCTTCCTTTCCTTTTTTCTTTCTTCTTCCTTCTTTCTTCCTTTTTCTCTCTCCTCTTTTCCTCCTCAAAATGTATATATTTTAAAAGCCTTAACTGTTAGTTATGCCTGCATTCATATTTGCACAGGAAAAATAAAGACCTGGATTTAAAAATAGGAATGACTCTTGCTTCAGCTCTTGCCATAAAGGAAGTTTCAGTCCCAGAGTATGTTTCTAGGGCAATGGCTTCCCTAGAAAGGATAGGTGCTGATGTGGGGGACGGCACACATTCCAAGAAAGTGACAAAGCCAAGTGCTGTTAAGGGCACAAACCAACAAGAACTCTCATTCATTGCTGGTGGGCATGCAATATTGCAATATGCAATATGGAAGACAATTTGGTAGTTTTTATAAAGTTAGGCATATGCTTTAGCATATGACCCAGCAATCACACCCTAGGTATTTACCTAAAAGAATTTGAAACTTATATGCACATAAAAACATGTATATAAATGTTGGTAGCAGCTTTATTCATTATTAACAAAAATCTGGAAGCAGTAATAATATCATTCAATAAGTGAATGGATAGATAAACAGTCAGGCGAGGTGGCGTGTGCCTATAATCCCAGCTACTAAGGAGGCTGAGAAGGGAAAATCATTTGAGTC	A	A98393909C	CNGA3	NC_000002.12:g.98393909_98399093del	noncoding	Pathogenic
2	98396072	TC	AA	T98396072A	CNGA3	NM_001298.3(CNGA3):c.902_903delinsAA:p.Phe301Ter	coding	Pathogenic/Likely_pathogenic
2	98396280	AC	A	C98396286G	CNGA3	NM_001298.3(CNGA3):c.1116del:p.Pro372_Val373insTer	coding	Pathogenic
2	98396402	CAG	C	A98396405T	CNGA3	NM_001298.3(CNGA3):c.1235_1236del:p.Glu412fs	coding	Pathogenic
2	98396436	G	GT	A98396438T	CNGA3	NM_001298.3(CNGA3):c.1267dup:p.Tyr423fs	coding	Pathogenic
2	98396519	C	CG	T98396522G	CNGA3	NM_001298.3(CNGA3):c.1351dup:p.Val451fs	coding	Pathogenic
2	98396685	TG	T	G98396689A	CNGA3	NM_001298.3(CNGA3):c.1519del:p.Asp507fs	coding	Pathogenic
2	98396918	AT	A	T98396919C	CNGA3	NM_001298.3(CNGA3):c.1749del:p.Leu584fs	coding	Pathogenic
2	99161677	GA	G	A99161687G	LIPT1	NM_145199.3(LIPT1):c.-1-270del	noncoding	Benign
2	99163178	T	TA	C99163179A	LIPT1	Single_allele	noncoding	Benign
2	99163179	C	CA	C99163192A	LIPT1	Single_allele	noncoding	Benign
2	100006812	CG	TC	C100006812T	AFF3	NM_001386135.1(AFF3):c.692_693delinsGA:p.Pro231Arg	coding	Pathogenic
2	101007870	A	AAAG	T101007874A	TBC1D8	NM_001330348.2(TBC1D8):c.3416_3418dup:p.Thr1139_Phe1140insSer	coding	Benign
2	101697716	A	ACT	G101697720T	MAP4K4	NM_001395002.1(MAP4K4):c.-363_-362dup	noncoding	Benign
2	101697929	C	CCCG	C101697944G	MAP4K4	NM_001395002.1(MAP4K4):c.-149GCC[5]	noncoding	Benign
2	101698171	G	GGGCAGCC	G101698195C	MAP4K4	NM_001395002.1(MAP4K4):c.57+35GGCAGCC[4]	noncoding	Benign
2	101698174	CA	C	A101698175G	MAP4K4	NM_001395002.1(MAP4K4):c.57+38del	noncoding	Benign
2	101834228	C	CCCTCCCTT	C101834243T	MAP4K4	NM_001395002.1(MAP4K4):c.640-174_640-167dup	noncoding	Benign
2	104856162	CAG	C	A104856165T	POU3F3	NM_006236.3(POU3F3):c.655_656del:p.Leu220fs	coding	Pathogenic
2	104856280	CG	C	G104856284C	POU3F3	NM_006236.3(POU3F3):c.774del:p.Leu259fs	coding	Pathogenic
2	105363142	C	CAGAT	G105363149A	FHL2	NM_001318895.3(FHL2):c.688+139_688+142dup	noncoding	Benign
2	108006356	TTA	T	T108006361G	SLC5A7	NM_021815.5(SLC5A7):c.895+155TA[2]	noncoding	Benign
2	108755164	A	AT	A108755174T	RANBP2	NM_006267.5(RANBP2):c.2383-3dup	noncoding	Benign
2	108758393	A	AT	C108758403T	RANBP2	NM_006267.5(RANBP2):c.2467-11dup	noncoding	Benign
2	108897099	C	CCTCT	T108897104C	EDAR	NM_022336.4(EDAR):c.1151_1154dup:p.Asp386fs	coding	Pathogenic
2	108897155	CAG	C	A108897158T	EDAR	NM_022336.4(EDAR):c.1097_1098del:p.Asn365_Ser366insTer	coding	Pathogenic
2	108906327	GT	G	T108906329G	EDAR	NM_022336.4(EDAR):c.1004del:p.Asn335fs	coding	Pathogenic
2	108907649	CA	C	A108907661C	EDAR	NM_022336.4(EDAR):c.963+210del	noncoding	Benign
2	108910783	CTCTT	C	T108910788C	EDAR	NM_022336.4(EDAR):c.719_722del:p.Lys240fs	coding	Pathogenic/Likely_pathogenic
2	108929349	AG	A	G108929350T	EDAR	NM_022336.4(EDAR):c.204del:p.Tyr69fs	coding	Pathogenic
2	110129109	A	AGACCAGAT	A110129113C	NPHP1	NM_001128178.3(NPHP1):c.1716+76_1716+77insGTCATCTG	noncoding	Benign
2	110131684	CT	C	T110131687G	NPHP1	NM_001128178.3(NPHP1):c.1636del:p.Ser546fs	coding	Pathogenic
2	110143576	TCA	T	C110143577G	NPHP1	NM_001128178.3(NPHP1):c.1493_1494del:p.Leu498fs	coding	Pathogenic
2	110144509	AG	A	G110144512T	NPHP1	NM_001128178.3(NPHP1):c.1412del:p.Pro471fs	coding	Pathogenic
2	110144542	A	AC	A110144545C	NPHP1	NM_001128178.3(NPHP1):c.1379dup:p.Thr461fs	coding	Pathogenic
2	110144658	TATACTC	T	T110144660G	NPHP1	NM_001128178.3(NPHP1):c.1353-95_1353-90del	noncoding	Benign
2	110150209	CT	C	T110150214A	NPHP1	NM_001128178.3(NPHP1):c.1130del:p.Lys377fs	coding	Pathogenic
2	110160461	A	AT	G110160464T	NPHP1	NM_001128178.3(NPHP1):c.955-208dup	noncoding	Benign
2	110161619	TC	T	C110161622A	NPHP1	NM_001128178.3(NPHP1):c.937del:p.Asp313fs	coding	Pathogenic
2	110163094	A	AT	A110163095T	NPHP1	NM_001128178.3(NPHP1):c.812_813insA:p.Pro272fs	coding	Pathogenic
2	110164487	C	CA	C110164503A	NPHP1	NM_001128178.3(NPHP1):c.771+186dup	noncoding	Benign
2	110168405	G	GA	G110168418A	NPHP1	NM_001128178.3(NPHP1):c.624+35dup	noncoding	Benign
2	110169844	CT	C	T110169845C	NPHP1	NM_001128178.3(NPHP1):c.483del:p.Asp162fs	coding	Pathogenic
2	110169847	C	CA	C110169850A	NPHP1	NM_001128178.3(NPHP1):c.480dup:p.Gly161fs	coding	Pathogenic
2	110179694	G	GA	G110179703A	NPHP1	NM_001128178.3(NPHP1):c.144-11dup	noncoding	Benign
2	111929211	AT	A	T111929212C	MERTK	NM_006343.3(MERTK):c.154del:p.Ser52fs	coding	Pathogenic
2	111929282	CA	C	A111929283G	MERTK	NM_006343.3(MERTK):c.225del:p.Gly76fs	coding	Pathogenic
2	111929324	AG	A	G111929325C	MERTK	NM_006343.3(MERTK):c.267del:p.Lys89fs	coding	Pathogenic
2	111968224	AC	A	C111968225T	MERTK	NM_006343.3(MERTK):c.933del:p.Ser312fs	coding	Pathogenic
2	111975312	T	TAATG	G111975317A	MERTK	NM_006343.3(MERTK):c.985_988dup:p.Gly330fs	coding	Pathogenic
2	111982888	T	TA	G111982890A	MERTK	NM_006343.3(MERTK):c.1192dup:p.Ser398fs	coding	Pathogenic
2	111997365	AC	GT	A111997365G	MERTK	NM_006343.3(MERTK):c.1493_1494inv:p.Asn498Ser	coding	Benign
2	112003121	CA	C	A112003125T	MERTK	NM_006343.3(MERTK):c.1724del:p.Asn575fs	coding	Pathogenic
2	112003982	AGT	A	T112003986A	MERTK	NM_006343.3(MERTK):c.1867+2_1867+3del	coding	Pathogenic
2	112010026	ATACT	A	A112010036T	MERTK	NM_006343.3(MERTK):c.2049_2052del:p.Leu683fs	coding	Pathogenic/Likely_pathogenic
2	112022236	CTTG	C	T112022243C	MERTK	NM_006343.3(MERTK):c.2350-21TTG[2]	noncoding	Benign
2	112022294	CG	C	G112022298A	MERTK	NM_006343.3(MERTK):c.2390del:p.Gly797fs	coding	Pathogenic
2	112549446	C	CT	G112549460T	POLR1B	NM_019014.6(POLR1B):c.625+60dup	noncoding	Benign
2	112549446	CT	C	T112549459G	POLR1B	NM_019014.6(POLR1B):c.625+60del	noncoding	Benign
2	112549499	CT	C	T112549516G	POLR1B	NM_019014.6(POLR1B):c.625+117del	noncoding	Benign
2	112552620	CT	C	T112552632C	POLR1B	NM_019014.6(POLR1B):c.987-13del	noncoding	Benign
2	112574723	TAAAA	T	A112574742G	POLR1B	NM_019014.6(POLR1B):c.2526-105_2526-102del	noncoding	Benign
2	112574723	TAAA	T	A112574743G	POLR1B	NM_019014.6(POLR1B):c.2526-104_2526-102del	noncoding	Benign
2	112574723	TA	T	A112574745G	POLR1B	NM_019014.6(POLR1B):c.2526-102del	noncoding	Benign
2	112756197	TTGGAA	T	A112756201C	CKAP2L	NM_152515.5(CKAP2L):c.1169_1173del:p.Ile390fs	coding	Pathogenic
2	112756869	TA	T	A112756870T	CKAP2L	NM_152515.5(CKAP2L):c.501del:p.Asn167fs	coding	Pathogenic
2	112757306	AT	A	T112757307A	CKAP2L	NM_152515.5(CKAP2L):c.157-93del	noncoding	Benign
2	112762785	C	CTT	G112762802T	CKAP2L	NM_152515.5(CKAP2L):c.38-232_38-231dup	noncoding	Benign
2	112774138	T	TTGAA	A112774143T	IL1A	NM_000575.5(IL1A):c.*925_*928dup	noncoding	Benign
2	113129613	AAC	A	C113129615A	IL1RN	NM_173842.3(IL1RN):c.156_157del:p.Asn52fs	coding	Pathogenic
2	113235223	TCC	T	C113235226G	PAX8	NM_003466.4(PAX8):c.1087+169_1087+170del	noncoding	Benign
2	113242364	CTG	C	T113242367C	PAX8	NM_003466.4(PAX8):c.479-236_479-235del	noncoding	Benign
2	118846850	G	GA	G118846856A	EN1	NM_001426.4(EN1):c.317dup:p.Ile107fs	coding	Pathogenic
2	120797365	CA	C	A120797369G	GLI2	NM_001374353.1(GLI2):c.49del:p.Ser17fs	coding	Pathogenic
2	120797659	G	GCCA	C120797665A	GLI2	NM_001374353.1(GLI2):c.148+194_148+196dup	noncoding	Benign
2	120955151	GC	G	C120955153T	GLI2	NM_001374353.1(GLI2):c.458-92del	noncoding	Benign
2	120955153	CTT	C	T120955180G	GLI2	NM_001374353.1(GLI2):c.458-65_458-64del	noncoding	Benign
2	120974779	AGT	A	G120974802C	GLI2	NM_001374353.1(GLI2):c.1183-195GT[11]	noncoding	Benign
2	120982443	CAT	C	A120982444G	GLI2	NM_001374353.1(GLI2):c.1468-272_1468-271del	noncoding	Benign
2	120988245	CG	C	G120988248C	GLI2	NM_001374353.1(GLI2):c.2283del:p.Ala763fs	coding	Pathogenic
2	120988248	GC	G	C120988251G	GLI2	NM_001374353.1(GLI2):c.2286del:p.Ala763fs	coding	Pathogenic
2	120988302	GA	G	A120988303C	GLI2	NM_001374353.1(GLI2):c.2338del:p.Thr780fs	coding	Pathogenic
2	120988317	GC	G	C120988318T	GLI2	NM_001374353.1(GLI2):c.2353del:p.Leu785fs	coding	Pathogenic
2	120988513	A	AG	C120988515G	GLI2	NM_001374353.1(GLI2):c.2549dup:p.Ser850fs	coding	Pathogenic
2	121530985	AT	A	T121530989G	RNU4ATAC	NM_001395891.1(CLASP1):c.196-661del	coding	Benign
2	127057896	GA	G	A127057898G	BIN1	NM_139343.3(BIN1):c.1003-296del	noncoding	Benign
2	127059270	CTG	C	G127059292A	BIN1	NM_139343.3(BIN1):c.858-137CA[10]	noncoding	Benign
2	127069731	A	AACACACAC	G127069766A	BIN1	NM_139343.3(BIN1):c.411+230GT[21]	noncoding	Benign
2	127069731	A	AACACAC	G127069766A	BIN1	NM_139343.3(BIN1):c.411+230GT[20]	noncoding	Benign
2	127069731	A	AACAC	G127069766A	BIN1	NM_139343.3(BIN1):c.411+230GT[19]	noncoding	Benign
2	127069731	A	AAC	G127069766A	BIN1	NM_139343.3(BIN1):c.411+230GT[18]	noncoding	Benign
2	127069731	AACAC	A	A127069762G	BIN1	NM_139343.3(BIN1):c.411+230GT[15]	noncoding	Benign
2	127081734	CCA	C	C127081743T	BIN1	NM_139343.3(BIN1):c.85-5038TG[4]	noncoding	Benign
2	127107556	CGCCCGGT	C	G127107576A	BIN1	Single_allele	noncoding	Benign
2	127260884	GGAGGCAAACT	G	G127260895A	ERCC3	NM_000122.2(ERCC3):c.2064+334_2064+343del	noncoding	Benign
2	127271489	GA	G	A127271500G	ERCC3	NM_000122.2(ERCC3):c.1828-37del	noncoding	Benign
2	127272934	CT	C	T127272935G	ERCC3	NM_000122.2(ERCC3):c.1757del:p.Gln586fs	coding	Pathogenic/Likely_pathogenic
2	127280587	TAC	T	C127280589G	ERCC3	NM_000122.2(ERCC3):c.1385_1386del:p.His461_Cys462insTer	coding	Pathogenic
2	127286924	C	CACTGCT	C127286931A	ERCC3	NM_000122.2(ERCC3):c.1115_1120dup:p.Trp374Ter	coding	Pathogenic/Likely_pathogenic
2	127288824	TC	T	C127288826A	ERCC3	NM_000122.2(ERCC3):c.862del:p.Glu288fs	coding	Pathogenic
2	127289499	A	AT	A127289500T	ERCC3	NM_000122.2(ERCC3):c.659_660insA:p.Ser221fs	coding	Pathogenic
2	127423175	A	AG	A127423181G	PROC	NM_000312.4(PROC):c.400+9dup	noncoding	Benign
2	127423317	G	GC	A127423319C	PROC	NM_000312.4(PROC):c.445dup:p.His149fs	coding	Pathogenic
2	127428824	TG	T	G127428828T	PROC	NM_000312.4(PROC):c.1268del:p.Gly423fs	coding	Pathogenic
2	127639868	GCCTGGGGTC	G	G127639883A	LIMS2	NM_001161403.3(LIMS2):c.878+193_878+201del	noncoding	Benign
2	127674035	T	TG	C127674039G	LIMS2	NM_001161403.3(LIMS2):c.11+976dup	noncoding	Benign
2	127675046	TGGGTTGCCG	T	G127675056C	LIMS2	NM_001161403.3(LIMS2):c.-40CGGCAACCC[1]	noncoding	Benign
2	128267829	TC	T	C128267830G	HS6ST1	NM_004807.3(HS6ST1):c.*332del	noncoding	Benign
2	130154448	GA	G	A130154449T	SMPD4	NM_017951.5(SMPD4):c.1487del:p.Ile496fs	coding	Pathogenic
2	135058042	GACTGGAAA	G	A135058043C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.107_114del:p.Asp36fs	coding	Pathogenic
2	135112834	TCACACACA	T	C135112861G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.363-316CA[13]	noncoding	Benign
2	135112834	TCACA	T	C135112865G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.363-316CA[15]	noncoding	Benign
2	135112834	T	TCACA	G135112869C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.363-316CA[19]	noncoding	Benign
2	135112834	T	TCA	G135112869C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.363-316CA[18]	noncoding	Benign
2	135129944	AT	A	T135129957C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.974-38del	noncoding	Benign
2	135130097	A	AT	A135130107T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1066+19dup	noncoding	Benign
2	135133948	GGAGGGTT	G	G135133951A	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1417_1423del:p.Gly473fs	coding	Pathogenic
2	135153774	GA	CT	G135153774C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2187_2188delinsCT:p.Met729_Lys730delinsIleTer	coding	Pathogenic
2	135167379	C	CTT	G135167394T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2710-1153_2710-1152dup	noncoding	Benign
2	135167379	CT	C	T135167393G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2710-1152del	noncoding	Benign
2	135794639	AC	A	C135794641T	LCT	NM_002299.4(LCT):c.5111+1del	noncoding	Pathogenic
2	135794750	TCTCA	T	A135794754T	LCT	NM_002299.4(LCT):c.4998_5001del:p.Ser1666fs	coding	Pathogenic/Likely_pathogenic
2	135794942	A	AC	T135794944C	LCT	NM_002299.4(LCT):c.4977-168dup	noncoding	Benign
2	135795033	A	ACG	A135795047G	LCT	NM_002299.4(LCT):c.4977-270CG[7]	noncoding	Benign
2	135798028	CCGAGACTTGT	C	C135798029T	LCT	NM_002299.4(LCT):c.4967_4976del:p.Asn1656fs	noncoding	Pathogenic
2	135812553	T	TG	C135812554G	LCT	NM_002299.4(LCT):c.2110_2111insC:p.Asp704fs	coding	Pathogenic
2	135817612	TTGTTGTA	T	T135817613G	LCT	NM_002299.4(LCT):c.1429_1435del:p.Tyr477fs	coding	Pathogenic
2	135836725	C	CAG	C135836728A	LCT	NM_002299.4(LCT):c.443_444dup:p.Asp149fs	coding	Pathogenic
2	135920387	A	AT	A135920398T	DARS1	NM_001349.4(DARS1):c.959+65dup	noncoding	Benign
2	135983458	CAA	C	A135983464G	DARS1	NM_001349.4(DARS1):c.67-6_67-5del	noncoding	Benign
2	136114912	G	GATGA	T136114920A	CXCR4	NM_003467.3(CXCR4):c.1012_1015dup:p.Ser339fs	coding	Pathogenic
2	136114938	GGA	G	A136114942G	CXCR4	NM_003467.3(CXCR4):c.988_989del:p.Ser330fs	coding	Pathogenic
2	136114975	G	GT	G136114977T	CXCR4	NM_003467.3(CXCR4):c.952dup:p.Thr318fs	coding	Pathogenic
2	142956253	CA	C	A142956256G	KYNU	NM_003937.3(KYNU):c.489del:p.Ala164fs	coding	Pathogenic
2	144389887	T	TTC	A144389888T	ZEB2	NM_014795.4(ZEB2):c.3208_3209insGA:p.Tyr1070Ter	coding	Pathogenic
2	144389961	GT	G	T144389962G	ZEB2	NM_014795.4(ZEB2):c.3134del:p.His1045fs	coding	Pathogenic
2	144389970	A	AAGGT	G144389975A	ZEB2	NM_014795.4(ZEB2):c.3122_3125dup:p.Ile1043fs	coding	Pathogenic
2	144390001	CA	C	A144390004T	ZEB2	NM_014795.4(ZEB2):c.3094del:p.Cys1032fs	coding	Pathogenic
2	144396524	AC	A	C144396525A	ZEB2	NM_014795.4(ZEB2):c.2954del:p.Cys985fs	coding	Pathogenic
2	144398222	A	AT	C144398232T	ZEB2	NM_014795.4(ZEB2):c.2886+70dup	noncoding	Benign
2	144398441	TG	T	G144398443T	ZEB2	NM_014795.4(ZEB2):c.2745del:p.Ser916fs	coding	Pathogenic
2	144398468	CA	C	A144398469G	ZEB2	NM_014795.4(ZEB2):c.2718del:p.Ala907fs	coding	Pathogenic
2	144398469	AG	A	G144398474A	ZEB2	NM_014795.4(ZEB2):c.2717del:p.Pro906fs	coding	Pathogenic
2	144398594	TA	T	A144398598G	ZEB2	NM_014795.4(ZEB2):c.2592del:p.Phe864fs	coding	Pathogenic
2	144398812	G	GA	T144398814A	ZEB2	NM_014795.4(ZEB2):c.2374dup:p.Ser792fs	coding	Pathogenic
2	144399043	AAC	A	A144399044G	ZEB2	NM_014795.4(ZEB2):c.2142_2143del:p.Leu715fs	coding	Pathogenic
2	144399064	AG	A	G144399067A	ZEB2	NM_014795.4(ZEB2):c.2122del:p.Leu708fs	coding	Pathogenic
2	144399122	TC	T	C144399123A	ZEB2	NM_014795.4(ZEB2):c.2064del:p.Lys689fs	coding	Pathogenic
2	144399149	CA	C	A144399151T	ZEB2	NM_014795.4(ZEB2):c.2037del:p.Ile679fs	coding	Pathogenic
2	144399320	T	TG	A144399325G	ZEB2	NM_014795.4(ZEB2):c.1866dup:p.Asn623fs	coding	Pathogenic
2	144399338	GA	G	A144399339G	ZEB2	NM_014795.4(ZEB2):c.1848del:p.His617fs	coding	Pathogenic
2	144399439	CA	C	A144399440T	ZEB2	NM_014795.4(ZEB2):c.1747del:p.Cys583fs	coding	Pathogenic
2	144399483	A	ATCAG	G144399489C	ZEB2	NM_014795.4(ZEB2):c.1700_1703dup:p.Asp568_Asp569insTer	coding	Pathogenic
2	144399555	AGT	A	G144399556C	ZEB2	NM_014795.4(ZEB2):c.1630_1631del:p.Thr544fs	coding	Pathogenic
2	144399873	GT	G	T144399874G	ZEB2	NM_014795.4(ZEB2):c.1313del:p.His438fs	coding	Pathogenic
2	144399937	TTCATAAAG	T	T144399938G	ZEB2	NM_014795.4(ZEB2):c.1242_1249del:p.Phe415fs	coding	Pathogenic
2	144399977	TA	T	A144399979G	ZEB2	NM_014795.4(ZEB2):c.1209del:p.Met404fs	coding	Pathogenic
2	144399985	TTA	T	T144399988G	ZEB2	NM_014795.4(ZEB2):c.1200_1201del:p.Tyr400_Lys401delinsTer	coding	Pathogenic
2	144400016	TA	T	A144400018T	ZEB2	NM_014795.4(ZEB2):c.1170del:p.Thr392fs	coding	Pathogenic
2	144400134	AC	A	C144400137G	ZEB2	NM_014795.4(ZEB2):c.1052del:p.Gly351fs	coding	Pathogenic
2	144400147	TTG	T	G144400149T	ZEB2	NM_014795.4(ZEB2):c.1038_1039del:p.Asn346fs	coding	Pathogenic
2	144401238	A	AT	G144401242T	ZEB2	NM_014795.4(ZEB2):c.876dup:p.Tyr293fs	coding	Pathogenic/Likely_pathogenic
2	144401293	G	GGTTA	C144401299T	ZEB2	NM_014795.4(ZEB2):c.818_821dup:p.Gln275fs	coding	Pathogenic
2	144403907	TC	T	C144403913A	ZEB2	NM_014795.4(ZEB2):c.807+8del	noncoding	Benign
2	144403907	T	TC	A144403914C	ZEB2	NM_014795.4(ZEB2):c.807+8dup	noncoding	Benign
2	144404030	C	CT	G144404033T	ZEB2	NM_014795.4(ZEB2):c.692dup:p.Tyr232fs	coding	Pathogenic
2	144404082	G	GGGCA	T144404089C	ZEB2	NM_014795.4(ZEB2):c.637_640dup:p.Pro214fs	coding	Pathogenic
2	144404147	G	GCA	A144404148C	ZEB2	NM_014795.4:c.593-18_593-17insTG	noncoding	Benign
2	144404942	GCT	AGGGCTGTGACTAGTATGTTGAGTCCTGTAAGTAGGAGAGTGATATTTGATCAGGAGAACGTGGTTACTAGCACAGAGAGTTCTCCCAGTAGGTTAATAGTGGGGGGTAAGGCGAGGTTAGCGAGGC	G144404942A	ZEB2	NM_014795.4(ZEB2):c.484_486delinsGCCTCGCTAACCTCGCCTTACCCCCCACTATTAACCTACTGGGAGAACTCTCTGTGCTAGTAACCACGTTCTCCTGATCAAATATCACTCTCCTACTTACAGGACTCAACATACTAGTCACAGCCCT:p.Ser162delinsAlaSerLeuThrSerProTyrProProLeuLeuThrTyrTrpGluAsnSerLeuCysTer	coding	Pathogenic
2	144424835	G	GCC	A144424840C	ZEB2	NM_014795.4(ZEB2):c.362_363dup:p.Pro122fs	coding	Pathogenic
2	144429786	GC	G	C144429787T	ZEB2	NM_014795.4(ZEB2):c.313del:p.Ala105fs	coding	Pathogenic
2	144430045	A	ACACACTCT	T144430055A	ZEB2	NM_014795.4(ZEB2):c.74-27_74-20dup	noncoding	Benign
2	144517319	CG	C	G144517324C	ZEB2	NM_014795.4(ZEB2):c.31del:p.Arg11fs	coding	Pathogenic
2	144517614	TTTG	T	T144517615G	ZEB2	NM_014795.4(ZEB2):c.-69-198_-69-196del	noncoding	Benign
2	144520469	A	ACCC	T144520478C	ZEB2-AS1	Single_allele	noncoding	Benign
2	147938407	G	GA	C147938416A	ORC4	NM_181741.4(ORC4):c.959-15dup	noncoding	Benign
2	147973686	T	TA	T147973693A	ORC4	NM_181741.4(ORC4):c.58-168dup	noncoding	Benign
2	147975979	T	TA	T147975987A	ORC4	NM_181741.4(ORC4):c.-17-11dup	noncoding	Benign
2	148458770	CAA	C	A148458772G	MBD5	NM_001378120.1(MBD5):c.14_15del:p.Lys5fs	coding	Pathogenic
2	148458825	GT	G	T148458826G	MBD5	NM_001378120.1(MBD5):c.68del:p.Val23fs	coding	Pathogenic
2	148458831	TGGCAGCGTCG	T	G148458832T	MBD5	NM_001378120.1(MBD5):c.74_83del:p.Trp25fs	coding	Pathogenic
2	148462610	GA	G	A148462611G	MBD5	NM_001378120.1(MBD5):c.143del:p.Glu48fs	coding	Pathogenic
2	148468411	TACAAATTC	T	A148468412T	MBD5	NM_001378120.1(MBD5):c.469_476del:p.Thr157fs	coding	Pathogenic
2	148468651	AATCTCTCCAAGGACTG	A	T148468653C	MBD5	NM_001378120.1(MBD5):c.710_725del:p.Ile237fs	coding	Pathogenic
2	148468966	AC	GA	A148468966G	MBD5	NM_001378120.1(MBD5):c.1023_1024delinsGA:p.Pro342Thr	coding	Pathogenic
2	148469130	TG	T	G148469131C	MBD5	NM_001378120.1(MBD5):c.1188del:p.Met396fs	coding	Pathogenic
2	148469391	CT	C	T148469392A	MBD5	NM_001378120.1(MBD5):c.1449del:p.Ser484fs	coding	Pathogenic
2	148469441	C	CCA	A148469444C	MBD5	NM_001378120.1(MBD5):c.1499_1500dup:p.Arg501fs	coding	Pathogenic
2	148469589	GT	G	T148469591C	MBD5	NM_001378120.1(MBD5):c.1648del:p.Ser550fs	coding	Pathogenic
2	148470055	AC	A	C148470056T	MBD5	NM_001378120.1(MBD5):c.2113del:p.Leu705fs	coding	Pathogenic
2	148483088	G	GT	C148483102T	MBD5	NM_001378120.1(MBD5):c.2519-9dup	noncoding	Benign
2	148483088	GT	G	T148483101C	MBD5	NM_001378120.1(MBD5):c.2519-9del	noncoding	Benign
2	148483088	GTT	G	T148483100C	MBD5	NM_001378120.1(MBD5):c.2519-10_2519-9del	noncoding	Benign
2	148485766	CT	C	T148485769G	MBD5	NM_001378120.1(MBD5):c.3572del:p.Thr1190_Leu1191insTer	coding	Pathogenic
2	148489337	C	CT	C148489339T	MBD5	NM_001378120.1(MBD5):c.3754-48dup	noncoding	Benign
2	148489400	AG	A	G148489401A	MBD5	NM_001378120.1(MBD5):c.3769del:p.Asp1257fs	coding	Pathogenic
2	148489459	A	AG	A148489461G	MBD5	NM_001378120.1(MBD5):c.3828dup:p.Asn1277fs	coding	Pathogenic
2	148490357	CA	C	A148490361G	MBD5	NM_001378120.1(MBD5):c.4729del:p.Ser1577fs	coding	Pathogenic
2	149007737	GT	G	T149007749A	KIF5C	NM_004522.3(KIF5C):c.2446-214del	noncoding	Benign
2	149571138	GAGCAT	G	T149571143A	MMADHC	NM_015702.3(MMADHC):c.638_642del:p.Tyr213fs	coding	Pathogenic
2	149575377	TGGGGAGATGAAG	T	A149575387G	MMADHC	NM_015702.3(MMADHC):c.609+322_609+333del	noncoding	Benign
2	149575731	TTTCA	T	T149575732A	MMADHC	NM_015702.3(MMADHC):c.585_588del:p.Arg197fs	coding	Pathogenic
2	149576169	ACT	A	C149576172A	MMADHC	NM_015702.3(MMADHC):c.478+266_478+267del	noncoding	Benign
2	149579375	C	CAA	G149579378A	MMADHC	NM_015702.3(MMADHC):c.372+54_372+55dup	noncoding	Benign
2	149581953	C	CCTTTTT	A149581954C	MMADHC	NM_015702.3(MMADHC):c.154+173_154+174insAAAAAG	noncoding	Benign
2	149582151	CAT	C	A149582152G	MMADHC	NM_015702.3(MMADHC):c.128_129del:p.His43fs	coding	Pathogenic
2	149586833	TA	T	A149586839T	MMADHC	NM_015702.3(MMADHC):c.9+255del	noncoding	Benign
2	151485908	T	TAGTC	T151485914G	NEB	NM_001164508.2(NEB):c.25426_25429dup:p.Tyr8477Ter	coding	Pathogenic
2	151490080	G	GA	G151490088A	NEB	NM_001164508.2(NEB):c.25298-4dup	noncoding	Benign
2	151490087	A	AG	C151490093G	NEB	NM_001164508.2(NEB):c.25298-11dup	noncoding	Benign
2	151490459	C	CA	C151490461A	NEB	NM_001164508.2(NEB):c.25209dup:p.Gly8404fs	coding	Pathogenic
2	151493429	TTC	T	C151493433T	NEB	NM_001164508.2(NEB):c.24687_24688del:p.Asn8230fs	coding	Pathogenic
2	151493767	T	TA	T151493772A	NEB	NM_001164508.2(NEB):c.24672+7dup	noncoding	Benign
2	151493773	AC	A	C151493775G	NEB	NM_001164508.2(NEB):c.24672+1del	noncoding	Pathogenic
2	151493829	TG	T	G151493830T	NEB	NM_001164508.2(NEB):c.24617del:p.Thr8206fs	coding	Pathogenic
2	151494164	G	GC	T151494166C	NEB	NM_001164508.2(NEB):c.24575dup:p.Ser8192fs	coding	Pathogenic
2	151494221	G	GGT	G151494225T	NEB	NM_001164508.2(NEB):c.24517_24518dup:p.Ala8174fs	coding	Pathogenic
2	151494236	A	AT	C151494241T	NEB	NM_001164508.2(NEB):c.24503dup:p.Asn8168fs	coding	Pathogenic
2	151496281	T	TAATA	T151496286A	NEB	NM_001164508.2(NEB):c.24477_24480dup:p.Ser8161delinsTyrTer	coding	Pathogenic/Likely_pathogenic
2	151496297	G	GTGTT	A151496304T	NEB	NM_001164508.2(NEB):c.24461_24464dup:p.His8155fs	coding	Pathogenic
2	151496957	T	TGG	A151496959G	NEB	NM_001164508.2(NEB):c.24376_24377insCC:p.Gln8126fs	coding	Pathogenic
2	151496977	C	CATCT	C151496982A	NEB	NM_001164508.2(NEB):c.24353_24356dup:p.Met8119fs	coding	Pathogenic/Likely_pathogenic
2	151496996	AG	A	G151496997A	NEB	NM_001164508.2(NEB):c.24337del:p.Leu8113fs	coding	Pathogenic
2	151497631	T	TAATA	T151497636A	NEB	NM_001164508.2(NEB):c.24291_24294dup:p.Ser8099delinsTyrTer	coding	Pathogenic
2	151497647	G	GTGTT	A151497654T	NEB	NM_001164508.2(NEB):c.24275_24278dup:p.His8093fs	coding	Pathogenic/Likely_pathogenic
2	151497651	T	TTGAC	C151497657G	NEB	NM_001164508.2(NEB):c.24271_24274dup:p.Lys8092fs	coding	Pathogenic
2	151497713	T	TAACAC	C151497719A	NEB	NM_001164508.2(NEB):c.24208_24212dup:p.Tyr8072fs	coding	Pathogenic/Likely_pathogenic
2	151498281	G	GTGTT	A151498288T	NEB	NM_001164508.2(NEB):c.24182_24185dup:p.His8062fs	coding	Pathogenic
2	151498287	G	GACTC	T151498292A	NEB	NM_001164508.2(NEB):c.24176_24179dup:p.Lys8061fs	coding	Pathogenic
2	151498288	A	ACTCT	G151498295C	NEB	NM_001164508.2(NEB):c.24175_24178dup:p.Val8060fs	coding	Pathogenic
2	151499319	G	GTGTT	A151499326T	NEB	NM_001164508.2(NEB):c.24089_24092dup:p.His8031fs	coding	Pathogenic
2	151499327	CTCTCTCCA	C	C151499333G	NEB	NM_001164508.2(NEB):c.24077_24084del:p.Met8026fs	coding	Pathogenic
2	151501405	C	CTTGA	G151501414T	NEB	NM_001164508.2(NEB):c.24003_24006dup:p.Glu8003fs	coding	Pathogenic
2	151501409	A	ATTGAG	T151501417G	NEB	NM_001164508.2(NEB):c.23998_24002dup:p.Gln8002fs	coding	Pathogenic
2	151501410	TTGAG	T	G151501412T	NEB	NM_001164508.2(NEB):c.23998_24001del:p.Leu8000fs	coding	Pathogenic
2	151501410	T	TTGAG	T151501416G	NEB	NM_001164508.2(NEB):c.23998_24001dup:p.Asn8001fs	coding	Pathogenic
2	151501469	C	CTCTT	G151501475C	NEB	NM_001164508.2(NEB):c.23939_23942dup:p.Asn7982fs	coding	Pathogenic
2	151502821	ACTCT	A	T151502825C	NEB	NM_001164508.2(NEB):c.23896_23899del:p.Arg7966fs	coding	Pathogenic
2	151503377	ACT	A	T151503383A	NEB	NM_001164508.2(NEB):c.23805_23806del:p.Arg7935fs	coding	Pathogenic
2	151503397	C	CA	C151503399A	NEB	NM_001164508.2(NEB):c.23786dup:p.Thr7930fs	coding	Pathogenic
2	151503436	C	CAT	A151503440T	NEB	NM_001164508.2(NEB):c.23746_23747dup:p.Met7916fs	coding	Pathogenic
2	151506183	GTGTT	G	G151506189C	NEB	NM_001164508.2(NEB):c.23628_23631del:p.Gln7876fs	coding	Pathogenic/Likely_pathogenic
2	151506959	CT	C	T151506961G	NEB	NM_001164508.2(NEB):c.23505del:p.Asp7836fs	coding	Pathogenic
2	151507994	TA	T	A151507999C	NEB	NM_001164508.2(NEB):c.23451+10del	noncoding	Benign
2	151513676	GTCTCGCTTATA	G	C151513678T	NEB	NM_001164508.2(NEB):c.23134_23144del:p.Tyr7712fs	coding	Pathogenic
2	151513711	G	GA	G151513722A	NEB	NM_001164508.2(NEB):c.23128-19dup	noncoding	Benign
2	151514867	AC	A	C151514869T	NEB	NM_001164508.2(NEB):c.22966del:p.Val7656fs	coding	Pathogenic
2	151516444	G	GT	G151516452T	NEB	NM_001164508.2(NEB):c.22905+14dup	noncoding	Benign
2	151516457	AC	A	C151516461A	NEB	NM_001164508.2(NEB):c.22905+1del	noncoding	Pathogenic
2	151516551	CT	C	T151516554G	NEB	NM_001164508.2(NEB):c.22812del:p.Glu7605fs	coding	Pathogenic
2	151519007	CAG	C	G151519011C	NEB	NM_001164508.2(NEB):c.22651_22652del:p.Leu7551fs	coding	Pathogenic
2	151525153	GA	G	A151525157C	NEB	NM_001164508.2(NEB):c.22272+9del	noncoding	Benign
2	151525259	CT	C	T151525264G	NEB	NM_001164508.2(NEB):c.22175del:p.Lys7392fs	coding	Pathogenic
2	151525980	TC	T	C151525982T	NEB	NM_001164508.2(NEB):c.22138del:p.Glu7380fs	coding	Pathogenic/Likely_pathogenic
2	151526162	GAC	G	A151526165C	NEB	NM_001164508.2(NEB):c.22044_22045del:p.Val7348_Ser7349insTer	coding	Pathogenic
2	151526191	CA	C	A151526192G	NEB	NM_001164508.2(NEB):c.22016del:p.Leu7339fs	coding	Pathogenic
2	151530991	TACATC	T	A151530994T	NEB	NM_001164508.2(NEB):c.21628_21630+2del	noncoding	Pathogenic
2	151533453	T	TA	T151533455A	NEB	NM_001164508.2(NEB):c.21405dup:p.Met7136fs	coding	Pathogenic
2	151535799	GA	G	A151535805C	NEB	NM_001164508.2(NEB):c.21208-5del	noncoding	Benign
2	151535799	G	GA	C151535806A	NEB	NM_001164508.2(NEB):c.21208-5dup	noncoding	Benign
2	151537235	AC	A	C151537237T	NEB	NM_001271208.1(NEB):c.21103delG	coding	Pathogenic/Likely_pathogenic
2	151537983	T	TA	C151537990A	NEB	NM_001164508.2(NEB):c.20998-13dup	noncoding	Benign
2	151538144	C	CT	G151538146T	NEB	NM_001164508.2(NEB):c.20992dup:p.Ser6998fs	coding	Pathogenic
2	151538160	CT	C	T151538163G	NEB	NM_001164508.2(NEB):c.20976del:p.Val6993fs	coding	Pathogenic
2	151538254	G	GA	C151538261A	NEB	NM_001164508.2(NEB):c.20893-11dup	noncoding	Benign
2	151541453	CTG	C	T151541454A	NEB	NM_001164508.2(NEB):c.20674_20675del:p.Gln6892fs	coding	Pathogenic
2	151541483	A	AAG	T151541487G	NEB	NM_001164508.2(NEB):c.20644_20645dup:p.Leu6883fs	coding	Pathogenic
2	151546364	C	CG	A151546368G	NEB	NM_001164508.2(NEB):c.20446dup:p.Arg6816fs	coding	Pathogenic
2	151547435	G	GT	G151547436T	NEB	NM_001164508.2(NEB):c.20360_20361insA:p.Ser6788fs	coding	Pathogenic
2	151547469	TG	T	G151547473T	NEB	NM_001164508.2(NEB):c.20326del:p.Gln6776fs	coding	Pathogenic
2	151547669	GGA	G	G151547670T	NEB	NM_001164508.2(NEB):c.20225_20226del:p.Ile6742fs	coding	Pathogenic
2	151551766	GC	G	C151551769G	NEB	NM_001164508.2(NEB):c.19915del:p.Ala6639fs	coding	Pathogenic
2	151551784	GT	G	T151551788G	NEB	NM_001164508.2(NEB):c.19897del:p.Thr6633fs	coding	Pathogenic
2	151553832	CT	C	T151553833G	NEB	NM_001164508.2(NEB):c.19621del:p.Ser6541fs	coding	Pathogenic
2	151560985	GA	G	A151560993C	NEB	NM_001164508.2(NEB):c.19206+18del	noncoding	Benign
2	151561211	A	ACTGG	A151561217T	NEB	NM_001164508.2(NEB):c.19094_19097dup:p.Glu6367fs	coding	Pathogenic
2	151562816	GT	G	T151562820A	NEB	NM_001164508.2(NEB):c.18694-9del	noncoding	Benign
2	151563884	GTGTAGCCATAGGCC	G	G151563886T	NEB	NM_001164508.2(NEB):c.18504_18517del:p.Lys6168fs	coding	Pathogenic
2	151567296	AGACT	A	T151567300A	NEB	NM_001164508.2(NEB):c.18024_18027del:p.Val6009fs	coding	Pathogenic/Likely_pathogenic
2	151576254	CAA	C	A151576257G	NEB	NM_001164508.2(NEB):c.16803_16804del:p.Phe5601fs	coding	Pathogenic
2	151576348	A	AGAGG	C151576354A	NEB	NM_001164508.2(NEB):c.16707_16710dup:p.Tyr5571fs	coding	Pathogenic
2	151592111	CTT	C	T151592113C	NEB	NM_001164508.2(NEB):c.14747_14748del:p.Lys4916fs	coding	Pathogenic
2	151600477	T	TCA	T151600482C	NEB	NM_001164508.2(NEB):c.13751_13752dup:p.Ile4585Ter	coding	Pathogenic
2	151600595	G	GGAGA	T151600600G	NEB	NM_001164508.2(NEB):c.13631_13634dup:p.Ile4546fs	coding	Pathogenic
2	151600636	GC	G	C151600638T	NEB	NM_001164508.2(NEB):c.13593del:p.Arg4531fs	coding	Pathogenic
2	151600720	CT	C	T151600723C	NEB	NM_001164508.2(NEB):c.13509del:p.Gly4504fs	coding	Pathogenic
2	151601959	AG	A	G151601961T	NEB	NM_001164508.2(NEB):c.13417del:p.Leu4473fs	coding	Pathogenic
2	151601960	GGTCATAACCA	G	A151601966C	NEB	NM_001164508.2(NEB):c.13407_13416del:p.Gly4470fs	coding	Pathogenic
2	151602592	TGATCTGCAGGGCATTGATTTTG	T	C151602596T	NEB	NM_001164508.2(NEB):c.13341_13362del:p.Lys4448fs	coding	Pathogenic
2	151602607	TG	T	G151602608A	NEB	NM_001164508.2(NEB):c.13347del:p.Asn4450fs	coding	Pathogenic
2	151602626	CA	C	A151602627G	NEB	NM_001164508.2(NEB):c.13328del:p.Leu4443fs	coding	Pathogenic
2	151602631	G	GCACGTTCACATTAGCACGTTCACATTGC	A151602632C	NEB	NM_001164508.2(NEB):c.13323_13324insGCAATGTGAACGTGCTAATGTGAACGTG:p.Pro4442delinsAlaMetTer	coding	Pathogenic
2	151603611	CG	C	G151603615T	NEB	NM_001164508.2(NEB):c.13220del:p.Pro4407fs	coding	Pathogenic
2	151603661	AC	A	C151603662A	NEB	NM_001164508.2(NEB):c.13170del:p.Tyr4391fs	coding	Pathogenic
2	151603689	AT	A	T151603691C	NEB	NM_001164508.2(NEB):c.13142del:p.Asn4381fs	coding	Pathogenic
2	151603700	TCA	T	C151603701T	NEB	NM_001164508.2(NEB):c.13130_13131del:p.Met4377fs	coding	Pathogenic/Likely_pathogenic
2	151604753	TC	T	C151604754T	NEB	NM_001164508.2(NEB):c.12865del:p.Glu4289fs	coding	Pathogenic
2	151604799	TG	T	G151604803T	NEB	NM_001164508.2(NEB):c.12819del:p.Lys4274fs	coding	Pathogenic
2	151604837	C	GTTGGTGGAAGGTTA	C151604837G	NEB	NM_001164508.2(NEB):c.12782delinsTAACCTTCCACCAAC:p.Gly4261fs	coding	Pathogenic
2	151606616	AT	A	T151606619C	NEB	NM_001164508.2(NEB):c.12736del:p.Ile4246fs	coding	Pathogenic
2	151608564	TAG	T	A151608567T	NEB	NM_001164508.2(NEB):c.12441_12442del:p.Leu4147_Tyr4148insTer	coding	Pathogenic
2	151608568	GT	G	T151608569C	NEB	NM_001164508.2(NEB):c.12438del:p.Arg4146fs	coding	Pathogenic
2	151608603	CTG	C	G151608605T	NEB	NM_001164508.2(NEB):c.12402_12403del:p.Asn4134fs	coding	Pathogenic
2	151610064	GC	G	C151610065T	NEB	NM_001164508.2(NEB):c.12074del:p.Ser4025fs	coding	Pathogenic
2	151610089	TTC	T	C151610091G	NEB	NM_001164508.2(NEB):c.12048_12049del:p.Lys4017fs	coding	Pathogenic
2	151614289	T	TCATA	G151614294C	NEB	NM_001164508.2(NEB):c.11584_11587dup:p.Asp3863delinsValTer	coding	Pathogenic
2	151614291	A	AC	T151614292C	NEB	NM_001164508.2(NEB):c.11585_11586insG:p.Tyr3862Ter	coding	Pathogenic
2	151614403	AC	A	C151614405A	NEB	NM_001164508.2(NEB):c.11473del:p.Val3825fs	coding	Pathogenic
2	151614589	TA	T	A151614596T	NEB	NM_001164508.2(NEB):c.11290-3del	noncoding	Benign
2	151617472	C	CA	G151617489A	NEB	NM_001164508.2(NEB):c.11077-20dup	noncoding	Benign/Likely_benign
2	151617487	A	AG	A151617488G	NEB	NM_001164508.2(NEB):c.11077-20_11077-19insC	noncoding	Benign
2	151618326	C	CG	T151618328G	NEB	NM_001164508.2(NEB):c.11024dup:p.Asp3676fs	coding	Pathogenic
2	151619712	GGCGCCAATGTGGT	G	C151619714A	NEB	NM_001164508.2(NEB):c.10598_10610del:p.His3533fs	coding	Pathogenic
2	151620981	CA	C	A151620982T	NEB	NM_001164508.2(NEB):c.10497del:p.Gly3498_Tyr3499insTer	coding	Pathogenic
2	151631160	CA	C	A151631161T	NEB	NM_001164508.2(NEB):c.9600del:p.Asn3200fs	coding	Pathogenic
2	151636347	GA	G	A151636355T	NEB	NM_001164508.2(NEB):c.8995-14del	noncoding	Benign
2	151639262	CAA	C	A151639264G	NEB	NM_001164508.2(NEB):c.8994+16_8994+17del	noncoding	Benign
2	151639885	GC	G	C151639887A	NEB	NM_001164508.2(NEB):c.8860del:p.Ala2954fs	coding	Pathogenic/Likely_pathogenic
2	151640516	TG	T	G151640518T	NEB	NM_001164508.2(NEB):c.8523del:p.Lys2842fs	coding	Pathogenic
2	151640653	TC	T	C151640654T	NEB	NM_001164508.2(NEB):c.8386del:p.Glu2796fs	coding	Pathogenic
2	151642676	C	CAA	T151642679A	NEB	NM_001164508.2(NEB):c.8269_8270dup:p.Leu2757fs	coding	Pathogenic
2	151644135	G	GA	T151644144A	NEB	NM_001164508.2(NEB):c.7645-14dup	noncoding	Benign
2	151646134	CTTGTG	C	T151646138A	NEB	NM_001164508.2(NEB):c.7527_7531del:p.Asn2509fs	coding	Pathogenic
2	151650268	ATTTC	A	T151650271C	NEB	NM_001164508.2(NEB):c.7335_7338del:p.Lys2445fs	coding	Pathogenic
2	151654102	GA	G	A151654106T	NEB	NM_001164508.2(NEB):c.6808-4del	noncoding	Benign
2	151654102	G	GA	T151654107A	NEB	NM_001164508.2(NEB):c.6808-7dup	noncoding	Benign
2	151655386	GA	G	A151655393G	NEB	NM_001164508.2(NEB):c.6703-13del	noncoding	Benign
2	151655386	G	GA	G151655394A	NEB	NM_001164508.2(NEB):c.6703-13dup	noncoding	Benign
2	151655879	TA	T	A151655882C	NEB	NM_001164508.2(NEB):c.6639del:p.Phe2213fs	coding	Pathogenic
2	151655956	TC	T	C151655958A	NEB	NM_001164508.2(NEB):c.6562del:p.Glu2188fs	coding	Pathogenic
2	151656404	CGA	C	G151656407C	NEB	NM_001164508.2(NEB):c.6242_6243del:p.Leu2081fs	coding	Pathogenic
2	151658062	G	GA	C151658064A	NEB	NM_001164508.2(NEB):c.6103dup:p.Ser2035fs	coding	Pathogenic
2	151662145	A	AT	G151662151T	NEB	NM_001164508.2(NEB):c.5959dup:p.Ile1987fs	coding	Pathogenic
2	151662336	CT	C	T151662337G	NEB	NM_001164508.2(NEB):c.5768del:p.Gln1923fs	coding	Pathogenic
2	151663715	T	TG	A151663718G	NEB	NM_001164508.2(NEB):c.5595dup:p.Lys1866fs	coding	Pathogenic
2	151663783	AGCTTG	A	C151663785G	NEB	NM_001164508.2(NEB):c.5523_5527del:p.Lys1842fs	coding	Pathogenic
2	151663816	ATG	A	G151663820T	NEB	NM_001164508.2(NEB):c.5493_5494del:p.Ile1832fs	coding	Pathogenic
2	151663851	GTA	G	A151663853T	NEB	NM_001164508.2(NEB):c.5458_5459del:p.Tyr1820fs	coding	Pathogenic
2	151664605	GT	G	T151664608C	NEB	NM_001164508.2(NEB):c.5346del:p.Lys1782fs	coding	Pathogenic
2	151665341	T	TG	T151665343G	NEB	NM_001164508.2(NEB):c.5229dup:p.Met1744fs	coding	Pathogenic
2	151665344	TCA	T	C151665345G	NEB	NM_001164508.2(NEB):c.5225_5226del:p.Leu1742fs	coding	Pathogenic
2	151665551	GA	G	A151665559T	NEB	NM_001164508.2(NEB):c.5032-13del	noncoding	Benign
2	151665551	G	GA	T151665560A	NEB	NM_001164508.2(NEB):c.5032-13dup	noncoding	Benign/Likely_benign
2	151669035	TG	T	G151669036T	NEB	NM_001164508.2(NEB):c.4602del:p.Asn1534fs	coding	Pathogenic
2	151669084	AATAGT	A	G151669088C	NEB	NM_001164508.2(NEB):c.4549_4553del:p.Tyr1516_Thr1517insTer	coding	Pathogenic
2	151669087	AG	A	G151669088T	NEB	NM_001164508.2(NEB):c.4550del:p.Thr1517fs	coding	Pathogenic
2	151671043	T	TA	T151671045A	NEB	NM_001164508.2(NEB):c.4485dup:p.Asn1496Ter	coding	Pathogenic
2	151675322	GA	G	A151675325C	NEB	NM_001164508.2(NEB):c.3843del:p.Leu1282fs	coding	Pathogenic/Likely_pathogenic
2	151677607	TG	T	G151677611A	NEB	NM_001164508.2(NEB):c.3731del:p.Pro1244fs	coding	Pathogenic
2	151677612	A	AG	T151677614G	NEB	NM_001164508.2(NEB):c.3726dup:p.Ser1243fs	coding	Pathogenic
2	151677879	ACT	A	C151677882G	NEB	NM_001164508.2(NEB):c.3562_3563del:p.Gln1187_Ser1188insTer	coding	Pathogenic
2	151678041	CTT	C	T151678043G	NEB	NM_001164508.2(NEB):c.3400_3401del:p.Lys1134fs	coding	Pathogenic
2	151679981	G	GT	A151679983T	NEB	NM_001164508.2(NEB):c.3083dup:p.Tyr1028Ter	coding	Pathogenic
2	151680031	G	GA	T151680039A	NEB	NM_001164508.2(NEB):c.3043-16dup	noncoding	Benign
2	151682721	CCCAG	C	G151682725C	NEB	NM_001164508.2(NEB):c.2880_2883del:p.Trp961fs	coding	Pathogenic
2	151684934	GTAGA	G	A151684938T	NEB	NM_001164508.2(NEB):c.2675_2678del:p.Ile892fs	coding	Pathogenic
2	151687486	CCAAT	C	A151687489T	NEB	NM_001164508.2(NEB):c.2566_2569del:p.Ile856fs	coding	Pathogenic
2	151692088	AGT	A	T151692096A	NEB	NM_001164508.2(NEB):c.2075_2076del:p.His692fs	coding	Pathogenic
2	151692324	CTT	C	T151692326G	NEB	NM_001164508.2(NEB):c.1933_1934del:p.Lys645fs	coding	Pathogenic
2	151696679	AG	A	G151696681A	NEB	NM_001164508.2(NEB):c.1526del:p.Pro509fs	coding	Pathogenic
2	151696702	AT	A	T151696706G	NEB	NM_001164508.2(NEB):c.1503del:p.Lys501fs	coding	Pathogenic
2	151697615	C	CTT	G151697620T	NEB	NM_001164508.2(NEB):c.1184_1185dup:p.Ala396fs	coding	Pathogenic
2	151697643	TA	T	A151697644G	NEB	NM_001164508.2(NEB):c.1157del:p.Leu386fs	coding	Pathogenic
2	151697657	G	GA	T151697666A	NEB	NM_001164508.2(NEB):c.1153-10dup	noncoding	Benign
2	151709675	GC	G	C151709676T	NEB	NM_001164508.2(NEB):c.1015del:p.Ala339fs	coding	Pathogenic
2	151709756	TA	T	A151709757T	NEB	NM_001164508.2(NEB):c.934del:p.Tyr312fs	coding	Pathogenic
2	151710487	TCTCA	T	A151710491C	NEB	NM_001164508.2(NEB):c.870_873del:p.Ser290fs	coding	Pathogenic
2	151717498	GC	G	C151717499G	NEB	NM_001164508.2(NEB):c.739del:p.Ala247fs	coding	Pathogenic
2	151717505	CT	C	T151717511G	NEB	NM_001164508.2(NEB):c.732del:p.Gly245fs	coding	Pathogenic
2	151723438	AG	A	G151723442T	NEB	NM_001164508.2(NEB):c.660del:p.Tyr221fs	coding	Pathogenic
2	151723481	CA	C	A151723482G	NEB	NM_001164508.2(NEB):c.617del:p.Leu206fs	coding	Pathogenic
2	151723493	C	CA	G151723500A	NEB	NM_001164508.2(NEB):c.613-8dup	noncoding	Benign
2	151724260	CT	C	T151724262G	NEB	NM_001164508.2(NEB):c.611del:p.Lys204fs	coding	Pathogenic
2	151724918	TG	T	G151724919A	NEB	NM_001164508.2(NEB):c.445del:p.His149fs	coding	Pathogenic
2	151727696	TA	T	A151727701G	NEB	NM_001164508.2(NEB):c.288del:p.Phe96fs	coding	Pathogenic
2	151727838	TTTGGAAGTTTCTGA	T	G151727842C	NEB	NM_001164508.2(NEB):c.133_146del:p.Ser45fs	coding	Pathogenic
2	151729629	CT	C	T151729631C	NEB	NM_001164508.2(NEB):c.63del:p.Glu22fs	coding	Pathogenic
2	151733101	G	GT	A151733112T	NEB	NM_001164508.2(NEB):c.36+19dup	noncoding	Benign
2	156329488	CG	C	G156329491A	NR4A2	NM_006186.4(NR4A2):c.698del:p.Pro233fs	coding	Pathogenic
2	156333105	T	TG	C156333108G	NR4A2	Single_allele	noncoding	Benign
2	157774072	G	GA	G157774081A	ACVR1	NM_001111067.4(ACVR1):c.643+15dup	noncoding	Benign
2	157780624	GA	G	A157780638G	ACVR1	NM_001111067.4(ACVR1):c.68-25del	noncoding	Benign
2	157780835	CA	C	A157780836T	ACVR1	NM_001111067.4(ACVR1):c.68-236del	noncoding	Benign
2	157799371	C	CAA	T157799383A	ACVR1	NM_001111067.4(ACVR1):c.67+45_67+46dup	noncoding	Benign
2	157799371	C	CA	T157799383A	ACVR1	NM_001111067.4(ACVR1):c.67+45dup	noncoding	Benign
2	158624674	C	CA	C158624692A	PKP4	NM_003628.6(PKP4):c.604-187dup	noncoding	Benign
2	159987235	GC	G	C159987236T	PLA2R1	NM_007366.5(PLA2R1):c.1957del:p.Ala653fs	coding	Benign
2	160112232	CA	C	A160112234G	ITGB6	NM_000888.5(ITGB6):c.1982-34del	noncoding	Benign
2	161416602	TACAG	T	G161416606A	TBR1	NM_006593.4(TBR1):c.196_199del:p.Asp66fs	coding	Pathogenic
2	161416787	AC	A	C161416791G	TBR1	NM_006593.4(TBR1):c.381del:p.Gly128fs	coding	Pathogenic
2	161416811	AC	A	C161416815G	TBR1	NM_006593.4(TBR1):c.405del:p.Ala136fs	coding	Pathogenic
2	161418970	A	AC	T161418972C	TBR1	NM_006593.4(TBR1):c.1049dup:p.Thr350_Ser351insTer	coding	Pathogenic
2	161423517	C	CCGGGCG	C161423535G	TBR1	NM_006593.4(TBR1):c.1345GCGGGC[3]:p.Gly452_Pro453insAlaGly	coding	Benign
2	161423537	CG	C	G161423540C	TBR1	NM_006593.4(TBR1):c.1362del:p.Pro455fs	coding	Pathogenic
2	161423717	GCT	G	C161423722T	TBR1	NM_006593.4(TBR1):c.1544_1545del:p.Ser515fs	coding	Pathogenic
2	162272467	C	CA	T162272468A	IFIH1	NM_022168.4(IFIH1):c.2455-81_2455-80insT	noncoding	Benign
2	162282334	A	AT	A162282342T	IFIH1	NM_022168.4(IFIH1):c.1306+25dup	noncoding	Benign
2	162282341	T	TA	T162282349A	IFIH1	NM_022168.4(IFIH1):c.1306+18dup	noncoding	Benign
2	162282579	TA	T	A162282586T	IFIH1	NM_022168.4(IFIH1):c.1096-4del	noncoding	Benign
2	162293385	A	AC	G162293386C	IFIH1	NM_022168.4(IFIH1):c.874+178_874+179insG	noncoding	Benign
2	162311121	GACA	G	C162311141A	IFIH1	NM_022168.4(IFIH1):c.454-209TGT[6]	noncoding	Benign
2	165100434	GA	G	A165100443T	SCN3A	NM_006922.4(SCN3A):c.3844-11del	noncoding	Benign
2	165115236	A	AT	G165115248T	SCN3A	NM_006922.4(SCN3A):c.3514+208dup	noncoding	Benign
2	165131225	G	GAT	A165131235T	SCN3A	NM_006922.4(SCN3A):c.2565+11AT[5]	noncoding	Benign
2	165154344	AT	A	T165154345A	SCN3A	NM_006922.4(SCN3A):c.1380+107del	noncoding	Benign
2	165162254	C	CT	C165162265T	SCN3A	NM_006922.4(SCN3A):c.1031+44dup	noncoding	Benign
2	165162381	CA	C	A165162390C	SCN3A	NM_006922.4(SCN3A):c.968-11del	noncoding	Benign
2	165162381	C	CA	C165162391A	SCN3A	NM_006922.4(SCN3A):c.968-11dup	noncoding	Benign
2	165164407	CTG	C	T165164408A	SCN3A	NM_006922.4(SCN3A):c.585_586del:p.Phe195fs	coding	Pathogenic
2	165176094	AT	A	T165176096A	SCN3A	NM_006922.4(SCN3A):c.264+36del	noncoding	Benign
2	165296685	C	CA	T165296697A	SCN2A	NM_001040142.2(SCN2A):c.268-321dup	noncoding	Benign
2	165296858	G	GA	G165296868A	SCN2A	NM_001040142.2(SCN2A):c.268-150dup	noncoding	Benign
2	165307705	CA	C	A165307713G	SCN2A	NM_001040142.2(SCN2A):c.387-135del	noncoding	Benign
2	165310338	TG	T	G165310343C	SCN2A	NM_001040142.2(SCN2A):c.718del:p.Ala240fs	coding	Pathogenic
2	165310343	GC	G	C165310346T	SCN2A	NM_001040142.2(SCN2A):c.721del:p.Ala240_Leu241insTer	coding	Pathogenic
2	165310394	TTCTG	T	G165310398A	SCN2A	NM_001040142.2(SCN2A):c.773_776del:p.Phe257_Cys258insTer	coding	Pathogenic
2	165313712	CCTT	C	C165313713A	SCN2A	NM_001040142.2(SCN2A):c.1128_1130del:p.Leu377del	coding	Pathogenic
2	165315531	GT	G	T165315537C	SCN2A	NM_001040142.2(SCN2A):c.1450del:p.Ser484fs	coding	Pathogenic
2	165315579	GA	G	A165315584G	SCN2A	NM_001040142.2(SCN2A):c.1497del:p.Glu500fs	coding	Pathogenic
2	165315609	AAGAAAC	A	C165315615G	SCN2A	NM_001040142.2(SCN2A):c.1528_1533del:p.Gln510_Lys511del	coding	Pathogenic
2	165323211	GC	G	C165323213T	SCN2A	NM_001040142.2(SCN2A):c.1729del:p.Leu577fs	coding	Pathogenic
2	165323301	GCCGAAGAGACTCT	G	C165323303T	SCN2A	NM_001040142.2(SCN2A):c.1819_1831del:p.Arg607fs	coding	Pathogenic
2	165323423	GC	G	C165323424T	SCN2A	NM_001040142.2(SCN2A):c.1940del:p.Ala647fs	coding	Pathogenic
2	165323447	TC	T	C165323450T	SCN2A	NM_001040142.2(SCN2A):c.1966del:p.Leu656fs	coding	Pathogenic
2	165323454	T	TGTGCAATGTGTGAGGG	C165323455G	SCN2A	NM_001040142.2(SCN2A):c.1970_1971insGTGCAATGTGTGAGGG:p.Val657_Gly658insCysAsnValTer	coding	Pathogenic
2	165327155	AT	A	T165327167A	SCN2A	NM_001040142.2(SCN2A):c.2149+183del	noncoding	Benign
2	165327155	ATT	A	T165327166A	SCN2A	NM_001040142.2(SCN2A):c.2149+182_2149+183del	noncoding	Benign
2	165331315	CT	C	T165331322C	SCN2A	NM_001040142.2(SCN2A):c.2150-8del	noncoding	Benign
2	165353911	ATATTTATC	A	A165353913T	SCN2A	NM_001040142.2(SCN2A):c.2920-279_2920-272del	noncoding	Benign
2	165353925	GA	G	A165353927C	SCN2A	NM_001040142.2(SCN2A):c.2920-265del	noncoding	Benign
2	165354461	A	AGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGG	C165354503G	SCN2A	NM_001040142.2(SCN2A):c.3190_3230dup:p.Ile1078fs	coding	Pathogenic
2	165354480	G	GA	C165354482A	SCN2A	NM_001040142.2(SCN2A):c.3209dup:p.Asp1070fs	coding	Pathogenic
2	165354670	AG	A	G165354672T	SCN2A	NM_001040142.2(SCN2A):c.3399+1del	coding	Pathogenic
2	165365059	TGG	T	G165365068C	SCN2A	NM_001040142.2(SCN2A):c.3400-75_3400-74del	noncoding	Benign
2	165365059	TG	T	G165365069C	SCN2A	NM_001040142.2(SCN2A):c.3400-74del	noncoding	Benign
2	165365269	CA	C	A165365273C	SCN2A	NM_001040142.2(SCN2A):c.3520+10del	noncoding	Benign
2	165365373	G	GTATC	G165365400T	SCN2A	NM_001040142.2(SCN2A):c.3520+111TATC[7]	noncoding	Benign
2	165365373	GTATC	G	T165365396G	SCN2A	NM_001040142.2(SCN2A):c.3520+111TATC[5]	noncoding	Benign
2	165365439	G	GT	G165365449T	SCN2A	NM_001040142.2(SCN2A):c.3520+185dup	noncoding	Benign
2	165365439	G	GTT	G165365449T	SCN2A	NM_001040142.2(SCN2A):c.3520+184_3520+185dup	noncoding	Benign
2	165370251	A	AG	T165370253G	SCN2A	NM_001040142.2(SCN2A):c.3802dup:p.Val1268fs	coding	Pathogenic
2	165380688	AT	A	T165380690G	SCN2A	NM_001040142.2(SCN2A):c.4407del:p.Ile1469fs	coding	Pathogenic
2	165381174	C	CA	C165381180A	SCN2A	NM_001040142.2(SCN2A):c.4533dup:p.Pro1512fs	coding	Pathogenic
2	165386945	CT	C	T165386946C	SCN2A	NM_001040142.2(SCN2A):c.4752del:p.Leu1585fs	coding	Pathogenic
2	165388948	TGGCTGGGATG	T	G165388950A	SCN2A	NM_001040142.2(SCN2A):c.5144_5153del:p.Gly1715fs	coding	Pathogenic
2	165389001	AC	A	C165389004T	SCN2A	NM_001040142.2(SCN2A):c.5198del:p.Pro1733fs	coding	Pathogenic
2	165754392	CTT	C	T165754416A	GALNT3	NM_004482.4(GALNT3):c.1626+233_1626+234del	noncoding	Benign
2	165754392	CTTT	C	T165754415A	GALNT3	NM_004482.4(GALNT3):c.1626+232_1626+234del	noncoding	Benign
2	165754392	CTTTT	C	T165754414A	GALNT3	NM_004482.4(GALNT3):c.1626+231_1626+234del	noncoding	Benign
2	165754462	CA	C	A165754471T	GALNT3	NM_004482.4(GALNT3):c.1626+164del	noncoding	Benign
2	165759498	GGACTTAC	G	T165759502A	GALNT3	NM_004482.4(GALNT3):c.904_910del:p.Val302fs	coding	Pathogenic
2	165759516	TA	T	A165759517G	GALNT3	NM_004482.4(GALNT3):c.892del:p.Tyr298fs	coding	Pathogenic/Likely_pathogenic
2	165761617	G	GA	G165761630A	GALNT3	NM_004482.4(GALNT3):c.838+276dup	noncoding	Benign
2	165875067	C	CAT	A165875069T	TTC21B	NM_024753.5(TTC21B):c.3874-236_3874-235insTA	noncoding	Benign
2	165890597	CT	C	T165890600A	TTC21B	NM_024753.5(TTC21B):c.3144del:p.Ala1049fs	coding	Pathogenic
2	165890851	CT	C	T165890854A	TTC21B	NM_024753.5(TTC21B):c.3087del:p.Gly1030fs	coding	Pathogenic
2	165890893	TA	T	A165890894C	TTC21B	NM_024753.5(TTC21B):c.3045del:p.Asn1016fs	coding	Pathogenic
2	165890894	AC	A	C165890895G	TTC21B	NM_024753.5(TTC21B):c.3044del:p.Arg1015fs	coding	Pathogenic
2	165900008	C	CA	C165900025A	TTC21B	NM_024753.5(TTC21B):c.2758-144dup	noncoding	Benign
2	165900064	G	GA	C165900077A	TTC21B	NM_024753.5(TTC21B):c.2758-196dup	noncoding	Benign
2	165901937	TA	T	A165901949G	TTC21B	NM_024753.5(TTC21B):c.2569-28del	noncoding	Benign
2	165907763	A	AT	G165907765T	TTC21B	NM_024753.5(TTC21B):c.2482dup:p.Met828fs	coding	Pathogenic
2	165907943	TA	T	A165907954G	TTC21B	NM_024753.5(TTC21B):c.2462-160del	noncoding	Benign
2	165911665	TA	T	A165911666T	TTC21B	NM_024753.5(TTC21B):c.2323-201del	noncoding	Benign
2	165911669	T	TA	T165911670A	TTC21B	NM_024753.5(TTC21B):c.2323-205_2323-204insT	noncoding	Benign
2	165915396	G	GA	T165915401A	TTC21B	NM_024753.5(TTC21B):c.1942dup:p.Ser648fs	coding	Pathogenic
2	165915455	TA	T	A165915459T	TTC21B	NM_024753.5(TTC21B):c.1900-17del	noncoding	Benign
2	165919290	TCAGA	T	G165919293A	TTC21B	NM_024753.5(TTC21B):c.1656_1659del:p.Leu551_Cys552insTer	coding	Pathogenic
2	165919425	CA	C	A165919427T	TTC21B	NM_024753.5(TTC21B):c.1524del:p.Ile508fs	coding	Pathogenic
2	165924954	AT	A	T165924956A	TTC21B	NM_024753.5(TTC21B):c.1387-277del	noncoding	Benign
2	165929200	CA	C	A165929204T	TTC21B	NM_024753.5(TTC21B):c.1320del:p.Phe440fs	coding	Pathogenic/Likely_pathogenic
2	165929254	G	GGACA	T165929259G	TTC21B	NM_024753.5(TTC21B):c.1263_1266dup:p.Leu423fs	coding	Pathogenic
2	165930233	CTCTTTAACTCTTCCTTGTA	C	T165930234A	TTC21B	NM_024753.5(TTC21B):c.1007_1025del:p.Leu336fs	coding	Pathogenic
2	165930372	G	GA	T165930382A	TTC21B	NM_024753.5(TTC21B):c.895-9dup	noncoding	Benign
2	165941196	GA	G	A165941203G	TTC21B	NM_024753.5(TTC21B):c.553-13del	noncoding	Benign
2	165943273	CT	C	T165943275C	TTC21B	NM_024753.5(TTC21B):c.497del:p.Lys166fs	coding	Pathogenic
2	165945685	C	CTCTA	G165945693A	TTC21B	NM_024753.4(TTC21B):c.264_267dup	coding	Pathogenic
2	165945796	ACTGT	A	G165945799A	TTC21B	NM_024753.5(TTC21B):c.263-110_263-107del	noncoding	Benign
2	165953651	G	GCCCGCCCGCTCA	T165953657C	TTC21B	NM_024753.5(TTC21B):c.21+33_21+34insGCGGGTGAGCGG	noncoding	Benign
2	165953651	G	GCCCGCTCACCCGCTCACCCGCTCA	T165953686C	TTC21B	NM_024753.5(TTC21B):c.21+2TGAGCGGG[7]	noncoding	Benign
2	165953651	G	GCCCGCTCACCCGCTCA	T165953686C	TTC21B	NM_024753.5(TTC21B):c.21+2TGAGCGGG[6]	noncoding	Benign
2	165953651	G	GCCCGCTCA	T165953686C	TTC21B	NM_024753.5(TTC21B):c.21+2TGAGCGGG[5]	noncoding	Benign
2	165953923	GT	G	T165953924G	TTC21B	Single_allele	noncoding	Benign
2	165991072	T	TC	A165991074C	SCN1A	NM_001165963.4(SCN1A):c.*172dup	noncoding	Benign/Likely_benign
2	165991486	AG	A	G165991488T	SCN1A	NM_001165963.4(SCN1A):c.5788del:p.Leu1930fs	coding	Pathogenic
2	165991532	CTT	C	T165991533G	LOC102724058;SCN1A	NM_001165963.4(SCN1A):c.5741_5742del:p.Gln1914fs	coding	Pathogenic
2	165991547	AAGT	A	A165991554G	SCN1A	NM_001165963.4(SCN1A):c.5719ACT[2]:p.Thr1909del	coding	Pathogenic
2	165991563	CT	C	T165991564G	SCN1A	NM_001165963.4(SCN1A):c.5711del:p.Gln1904fs	coding	Pathogenic
2	165991611	CTG	C	G165991613A	SCN1A	NM_001165963.4(SCN1A):c.5662_5663del:p.Gln1888fs	coding	Pathogenic
2	165991638	AC	A	C165991639T	SCN1A	NM_001165963.4(SCN1A):c.5636del:p.Ser1879fs	coding	Pathogenic
2	165991679	C	CAA	G165991682A	SCN1A	NM_001165963.4(SCN1A):c.5594_5595dup:p.Asp1866fs	coding	Pathogenic
2	165991698	AC	A	C165991700A	SCN1A	NM_001165963.4(SCN1A):c.5576del:p.Gly1859fs	coding	Pathogenic
2	165991713	C	CA	T165991717A	SCN1A	NM_001165963.4(SCN1A):c.5561dup:p.Leu1854fs	coding	Pathogenic
2	165991731	C	CTGGA	G165991736T	SCN1A	NM_001165963.4(SCN1A):c.5540_5543dup:p.Gln1848fs	coding	Pathogenic
2	165991785	C	CT	G165991787T	SCN1A	NM_001165963.4(SCN1A):c.5489dup:p.Phe1831fs	coding	Pathogenic
2	165991895	CA	C	A165991896G	SCN1A	NM_001165963.4(SCN1A):c.5379del:p.Glu1794fs	coding	Pathogenic
2	165991902	AAC	A	A165991905T	SCN1A	NM_001165963.4(SCN1A):c.5371_5372del:p.Val1791fs	coding	Pathogenic
2	165991950	CAGGAAGG	C	G165991952T	SCN1A	NM_001165963.4(SCN1A):c.5318_5324del:p.Ser1773fs	coding	Pathogenic
2	165991959	T	TG	A165991960G	SCN1A	NM_001165963.4(SCN1A):c.5315_5316insC:p.Ser1773fs	coding	Pathogenic
2	165991976	CAAA	C	A165991980G	SCN1A	NM_001165963.4(SCN1A):c.5296_5298del:p.Phe1766del	coding	Pathogenic
2	165992064	CTT	C	T165992065A	SCN1A	NM_001165963.4(SCN1A):c.5209_5210del:p.Lys1737fs	coding	Pathogenic
2	165992073	G	GAGAA	T165992078A	SCN1A	NM_001165963.4(SCN1A):c.5198_5201dup:p.Asn1735fs	coding	Pathogenic
2	165992229	GA	G	A165992231C	SCN1A	NM_001165963.4(SCN1A):c.5045del:p.Phe1682fs	coding	Pathogenic
2	165992258	TG	T	G165992259T	SCN1A	NM_001165963.4(SCN1A):c.5016del:p.Asn1672fs	coding	Pathogenic
2	165992275	AG	A	G165992278A	SCN1A	NM_001165963.4(SCN1A):c.4999del:p.Leu1667fs	coding	Pathogenic
2	165992305	C	CGGAT	C165992310G	SCN1A	NM_001165963.4(SCN1A):c.4966_4969dup:p.Arg1657fs	coding	Pathogenic
2	165992356	A	AGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCT	A165992401G	SCN1A	NM_001165963.4(SCN1A):c.4875_4918dup:p.Leu1640delinsGlnLysSerIleSerCysProLeuProCysSerGluTer	coding	Pathogenic
2	165994650	A	AAAAC	A165994682C	SCN1A	NM_001165963.4(SCN1A):c.4582-262GTTT[8]	noncoding	Benign
2	165994650	A	AAAACAAAC	A165994682C	SCN1A	NM_001165963.4(SCN1A):c.4582-262GTTT[9]	noncoding	Benign
2	165995836	TTTAA	T	A165995839T	SCN1A	NM_001165963.4(SCN1A):c.4581+173_4581+176del	noncoding	Benign
2	165996077	TTC	T	C165996079T	SCN1A	NM_001165963.4(SCN1A):c.4515_4516del:p.Lys1506fs	coding	Pathogenic
2	165998040	TC	T	C165998041T	SCN1A	NM_001165963.4(SCN1A):c.4473del:p.Lys1492fs	coding	Pathogenic
2	165998071	GAC	G	A165998074C	SCN1A	NM_001165963.4(SCN1A):c.4441_4442del:p.Val1481fs	coding	Pathogenic
2	165998084	AG	A	G165998086T	SCN1A	NM_001165963.4(SCN1A):c.4429del:p.Leu1477fs	coding	Pathogenic
2	165998085	G	GTGTGTCTTCAC	G165998086T	SCN1A	NM_001165963.4(SCN1A):c.4428_4429insGTGAAGACACA:p.Leu1477fs	coding	Pathogenic
2	165998135	TA	T	A165998136C	SCN1A	NM_001165963.4(SCN1A):c.4378del:p.Tyr1460fs	coding	Pathogenic
2	165998142	A	ACAGACTTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTC	C165998154T	SCN1A	NM_001165963.4(SCN1A):c.4371_4372insGAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTCTG:p.Leu1457_Tyr1458insGluGluAsnArgPheAsnLeuGlyGlyArgGlyCysSerGluProArgLeuHisHisCysThrProProArgXaaXaaXaaXaaLysLysLysLysLysLysLysGluSerLeu	coding	Pathogenic
2	166002469	TA	T	A166002470C	SCN1A	NM_001165963.4(SCN1A):c.4284+2del	noncoding	Pathogenic
2	166002534	ATCGAGCAGTCTCATTTCTTTCTATTAGTTTTAGGCAATCAGTATGATTATTCACGTCTTCGATGTCAAACCTGTCACCAGTTGTGGTGTTAATACAGTGGTAGAATTTGCCAGCAAACAAATTTACGCCCATGATGCTGAAAATTAGCCAGAATATAAGACAAACCAGAAGCACATTCATGATGGATGGAATTGCTCCTAAAAGGGCATTCACAACCACCTAATACACAAATGGAAAAAAAGAAAAGTCAGAATTCTTATCTGTTAATAAAGAAAAAAAATTCCCCTAGTAATCTCTGGTCTTTCCATTCTTTTTTTCTATCAATGCTATTTATTCTAGGATATGTAAAAGCAAGGTTCAAAAAAATCTTAAAATTCATTTTTTTTTCTTAAGCAATACACTTAGGAAAACAACTATAGGCAATATAACCAAGAAATGAAACAAAAATGTTTTTAAAAAAAAGGGAGGGAGAAGCATTAAAAGGTTAAAGGAAAAGGAAAATCAGAGGAACTTGCTGCCAGATGAAGTCAGAATTGTGTTATCAGAATAAAGAAAAGTTAAAAAGCCTATACAGAAGTTTAACTCATTTTAAAAAGGCAATATATTAAAGAACAAAACTAAAACATTTGGACCTGAGTTGATTTGACCAATATATTTTTAAAATAACTTAAAAATTCAGATGATAAATATAAAAAATATTATTAAATACCTAATATAATTGTCTTTAATTATTCATGCATTGCTATGACTAATAATTTTTGCATAAGAAGCAAGACAATTTGCATTATGTATTTCATTAGATCATCACATCGTTTATTTCAAGCTCCAGTCATGTCAGTTGTTTCATTTACTGAGTTTAATTCAAAAAACTTATTTCAAATGAAACATAATAGAAATCATTTCTTAGGAAAATAAGAAAAAGAGGGATGCCATACATAGTTCTCAAATCTGATGTGATCACATGAAGTTCTGTGTTCAATTATTATCTACTTTTTTTTTTTTCTATAGAAGGATGTTTTCCCCCTCTTTACTTCTGGACCACTAGTTAAAAATCTTGAGTGTTCATGTTTGGAAACAACATAGGGATGGCTTCCTTGCTTTTTCCTCCATACCTCCCACTGGAGCTGCACAGGAGTGGCTAAGAGGGAAGCTAAAAACAGACCCTAAAATGCTTATAAGGGGCAGCTGCCTCAAACTTGGACATTAATAGCTAAGTTTAATTCCACCTATGTGCTTGTATTATTCTTGTCAGTCTGATCCAATGGAAGTAGTCGTCAAAACATCTTCTATTTGCCATTTGATGCCAGTGTATTTTTAGAACAATTTTTTTTAACTGCCTGTCTGAAAAAAAAATACATGAGCCAATTTCTTATACTTCTGATCCCTGTTTAAAGCCTGTAAAGAACTCTAGGCCTTCTGGGGAACATAAAACAGTGTGATAAGTGGGCCAAAGAAAATAAGAATACCAGTAATGACAAAGGTGGAGGGGATGAGTATGAAAAATTAATTTGGTTGAGTTATCCAGGCAGAACCAAATGATGTGGCCGATGCAACTACCAAGCTGACACGTGACACTTTGCCTTATCTCATCTGACTGTCTGCATTAATACAATGGACTTCATAAATTCTCGTTATATAATTTATTTTAAATGGATGAATAGAATTAGATTTCTTTCAGATTAGAGATTTGGAAATTGAAATCAAGTTACTATTTCCCTTCTTTTCTGAATATTTTGTCCACTATCCAGATTACAATGCTGTTTCTAGTGTGTATACACAGAGTACTAATTAAAATACGTATTTTGCCTTCAACACCCAATTTAGAGTATGAGCAGAACACTGATTATCTATACCTATTTCTCGATTTTCTTTTCACATTACCTGTCTCACATTTTTTCTTTGAAACGTTTCTCAGCTTTGCCACCTCTTTTCCATTCTCACAGTCACCACCTAGAACTGCCCTCTGTTATTTCATACTTGCACTGTCATCTGTCTCCTAACCTTCTCCTTCATTTAATCTATGTAAGATGAATTAATCTTCCCCAAGTCCCACTTGAAAGTTATTTATTGGCTCTCTGGTAACTAACAAATATTTTTCTTACCTTGGTATTCACATCACTCCACAATCTATATTTCCAGTTTTAACTTCCCTGGTCATCTATACTTCATGCCACTTCAATTAATATAATAACCGTGTGCTAATATAATTGCCAGGTGATTGAGATGCCATTTACATTGAAATTCCTTGTCTAATAGCTCCTCTTCTGAAATACTCTCCCCTCTTAAAGGCTTTAGTTCAAATAGCACTTCTTTCATGGAGCCTAACTTTGTCCCCCAGTTTAGCCTCCAAAATAAAGAGGAATGTTTTCCCCTTTGAATTCAAGAATCAGAATTCTAGTACTGAACAGAACTGTACAGATAATTCAGTATTGCGTTCTCATTTGGCATATGAGAAAAATGAGGTTAAAACAAGTTAAGTTCAGAAAGTAGCCTATAAATAGCATTTAGTGCTGTTTCCAGTCTACGTGGAAGAGTTGCTCCCACTTATCTGGTACCCATATTACTCTGTACTAGAGTTCAGTGTAATCCTGACAGATTGTAAGATTTTCTAAAAATTTAAGATGCAAACATATGTTCGTGAATCTTCCAGGGCCTTGAGTGTCTTGAATATAAGAACATACCAGAGAGCTTTGAATATAGGAATAAAATAATGGTTGACAAAAATGAATGGGTTAATGAAGCAAAGTTTAGATTAGTATTTATTGATCAAAGCATAATTTTTAAATGTTATTTCTGAATATGGGATGAGAATAATTAAGGAACTGAGCACAGGGAGAAGTTTGTGCTTAGGTAATATGTTTGAGAGGTTTACTTTGAAACTGGGGATTGATTTAGAGTTAAAGCGAACTCTATGGAATTTATGACGCAAGCATGTACTCTGCAGCAGTGCACTTCAGGATATGATTTGCAAAGTTGGCATACATTTGGCCCAGAGAAAAGTTTTATTTTTTTTGTGAACATAAAATAACTTTATCTTAGAAAACATCTGGCACAGTATTGGGGAGTTTATTATACAAAGCTATAGTCATATTTATGATGTATTAAATTAGACAATGAAAGATCATAGAAAAGATTGTCTTTTCCCAAGAGTTCCAAGCCATTCCTTGGTTCAGCAAAGAAGGAGGTGTATTAACTTTTTTCAGTCTCAATAAAGCTGCAGTAATTGGTTCTTATGGGGGGAAGAAAGTAGGCAGAATTAGTCTGAATAAATTGGAAAGAACAAATTTCAAATTGAACTTTCAGGCTACATGAAAGGAAATGTCTGAGAAAGGAGCTATCTTAATGAATTAATACTGTACTAGAGGTTGTTTCTTCTCAGAAGCTTTTTTTTCAAAACAATCATCAAATAAAGTTTCTCTACTCTAGCACAACCAATTCTATTTCTGGTTCATTACCTGCATTTTTAAAAATAAGTCTACACTAAATGAAGGATTGATAATTAAATATGCAAATTCACATTAGAAATTTTCATACATGCAGAAATGTCTTTTTATCTGAATTAATTACTTTGAACTTCAAATCAACACTATTCATGAATTCTAGTGCTTCTCTAATAGAAATAAAGAAAATCTATGTGAATAAAAATAAAAGTGGGCAAAGTAGGAATCATCCATTTTTAAGTATAAAGAAGAATAATAGAATCTTTCTTAAAAATCTAAAAAAATTATGTTGTGGGTTTTAATTAAGACAGTTTTTTTGTAAGCTATGATATATTGGTGATCCAAACAAAAATTCTGACTTTTTCTGTCTCTCGAATATAAACTCTTCTTCTTGTATAATACACTTAAACTTTAAGAATAAATAAAATGTAGAGTTATGTTTATGTATGTTTTCACTGTGTTATGTTTTAAAATCCTAGAAAGTTAGTTGGGAGTTACTTATTCTAAGAAGTGAGTTTATGCCTTAAATTTTATCTTAATACTCATGATAAGACGTTTTTGTTTTATTTCTAGGTATGTATTCTATTCTGCATAATTCAAATAAGTGGATTTTTTTATTCTAACTTTTTGTTTACAACACAATTCACATGTGCTTATTCAACTATTTCTTAATATATTTTTGCCTTGTTAACATTTTGAAAATAACCCCATATGAACTTACACAATAAAAAATGAGAGTGGTCACAATCAATACCAGTCTTATGAAACCTGAAATATTGCACCCTAGTATCTGCTCATACATATCAATAATCAACTGATGGTATCTAACTGGTAATTTTCAGGACCCAGACCAATGTACTAAACAGCAGGGGCTGTATGCCTCAAACAGTATCATGAGCTTAACAAGTTAAATTGTTTTTTCACATAATCATTCTACACCAGGGTCCCCCGCCCTCACCAATCCAGTAATCTCCCCAAAGATGGATAACTCCATATACACATAACTAAATCATATTCAATGAAACTTAATAAAGATATCAACCATTGGGGTTAAAATCCACAGAGGGTAAATTCATAAAGGTTTTTTTTTTTTTCAAATGAAATTTAAGACAATTGAAAAGAGGGGATTAGGATGTAAATAATGTATTTTCCCTACTGTGGTGCAATAATAGTACCCTTCCCAATCCCTCCCTCACCCCACTACACATAAGTCACAGTGCAAGGATTAAAGGTAGCAAAAGGGGTAATACAGTACCCATAATAAAGGGCTCAGGGGAGGAACCAGCGCTCCACCCCATCCAAGTTGGAGCAAGATTATCCTATACAAAATAGAAATATATAGTTTGTTATTAGTTAGAAATCTGATATGACAGAACATTTGGTGTTACTTTTTGTTCATGATGCTCTCCGTCTGTTTCCCTATCCATTAAGACTTGAGTTCTTTTGAAAAAGAAGGTATTTAAGATTTCCTAGGTTAGGAAATTAAAAATACAAATTTAAACACAAATTTTATTTTACCCTAGATATTCACGACATCAATTCACTCAGTTTAATTTTACAAGTTGAAAAATTTGGACTGGAAATTTGAAATACAATAAATGTTTAAAAGCTGTCAGCCAGAAATGTGCATAAAACATGCAAAACACAAAGTGCAACGTGATGATAATTTATTTGTTACTTTCTAACTTCTTATCAAGCACTGTACAACATGCTTTATTCAGTAATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTAC	A	T166002535G	SCN1A	NM_001165963.4(SCN1A):c.4002+1953_4221del	coding	Pathogenic
2	166002551	CT	C	T166002554C	SCN1A	NM_001165963.4(SCN1A):c.4204del:p.Arg1402fs	coding	Pathogenic
2	166002568	G	GCAAT	G166002575A	SCN1A	NM_001165963.4(SCN1A):c.4184_4187dup:p.Cys1396Ter	coding	Pathogenic
2	166002737	A	AGG	C166002741G	SCN1A	NM_001165963.4(SCN1A):c.4017_4018dup:p.Leu1340fs	coding	Pathogenic
2	166002912	A	AT	C166002922T	SCN1A	NM_001165963.4(SCN1A):c.4003-168dup	noncoding	Benign
2	166007055	G	GT	C166007069T	SCN1A	NM_001165963.4(SCN1A):c.4002+2651dup	noncoding	Benign
2	166009724	TC	T	C166009727T	SCN1A	NM_001165963.4(SCN1A):c.3996del:p.Gly1332_Met1333insTer	coding	Pathogenic
2	166009778	GA	G	A166009779G	SCN1A	NM_001165963.4(SCN1A):c.3942del:p.Leu1315fs	coding	Pathogenic
2	166009815	A	AT	G166009819T	SCN1A	NM_001165963.4(SCN1A):c.3905dup:p.Asn1302fs	coding	Pathogenic
2	166009841	CCT	C	C166009842G	SCN1A	NM_001165963.4(SCN1A):c.3880-2_3880-1del	coding	Pathogenic
2	166010145	GA	G	A166010152T	SCN1A	NM_001165963.4(SCN1A):c.3880-305del	noncoding	Benign
2	166012118	TAAG	T	A166012122T	SCN1A	NM_001165963.4(SCN1A):c.3864CTT[1]:p.Phe1289del	coding	Pathogenic
2	166012150	AAT	A	A166012153G	SCN1A	NM_001165963.4(SCN1A):c.3836_3837del:p.Tyr1279fs	coding	Pathogenic
2	166012266	T	TATATATC	T166012274A	SCN1A	NM_001165963.4(SCN1A):c.3715_3721dup:p.Tyr1241Ter	coding	Pathogenic
2	166012290	G	GA	T166012295A	SCN1A	NM_001165963.4(SCN1A):c.3706-12dup	noncoding	Benign
2	166013789	AAACCAGTTATGTTC	A	C166013793T	LOC102724058;SCN1A	NM_001165963.4(SCN1A):c.3646_3659del:p.Val1215_Glu1216insTer	coding	Pathogenic
2	166013799	T	TAA	G166013800A	SCN1A	NM_001165963.4(SCN1A):c.3649_3650insTT:p.His1217fs	coding	Pathogenic
2	166013813	GA	G	A166013816C	SCN1A	NM_001165963.4(SCN1A):c.3635del:p.Phe1212fs	coding	Pathogenic
2	166015631	C	CA	G166015634A	SCN1A	NM_001165963.4(SCN1A):c.3525dup:p.Glu1176Ter	coding	Pathogenic
2	166015714	CTTTCA	C	T166015717C	SCN1A	NM_001165963.4(SCN1A):c.3438_3442del:p.Asn1146fs	coding	Pathogenic
2	166035934	TAAAAA	T	A166035945T	SCN1A	NM_001165963.4(SCN1A):c.3429+109_3429+113del	noncoding	Benign
2	166035934	TAAA	T	A166035947T	SCN1A	NM_001165963.4(SCN1A):c.3429+111_3429+113del	noncoding	Benign
2	166036080	TAA	T	A166036082G	SCN1A	NM_001165963.4(SCN1A):c.3395_3396del:p.Asp1131_Phe1132insTer	coding	Pathogenic
2	166036086	CTTCCGTGT	C	C166036089A	SCN1A	NM_001165963.4(SCN1A):c.3383_3390del:p.Asn1128fs	coding	Pathogenic
2	166036165	T	TG	A166036167G	SCN1A	NM_001165963.4(SCN1A):c.3311dup:p.Phe1105fs	coding	Pathogenic
2	166036216	TC	T	C166036218T	SCN1A	NM_001165963.4(SCN1A):c.3260del:p.Gly1087fs	coding	Pathogenic
2	166036259	A	AG	A166036261G	SCN1A	NM_001165963.4(SCN1A):c.3217dup:p.Leu1073fs	coding	Pathogenic
2	166036357	CCTAATGAAGGA	C	A166036360G	SCN1A	NM_001165963.4(SCN1A):c.3109_3119del:p.Ser1037fs	coding	Pathogenic
2	166036386	ATA	TT	A166036386T	LOC102724058;SCN1A	NM_001165963.4(SCN1A):c.3089_3091delinsAA:p.Ile1030fs	coding	Pathogenic
2	166036402	ATAAGC	A	A166036405C	SCN1A	NM_001165963.4(SCN1A):c.3070_3074del:p.Ala1024fs	coding	Pathogenic
2	166036405	AGCTAC	A	G166036406T	SCN1A	NM_001165963.4(SCN1A):c.3067_3071del:p.Val1023fs	coding	Pathogenic
2	166037610	AGTTT	A	G166037615T	SCN1A	NM_001165963.4(SCN1A):c.2946+162_2946+165del	noncoding	Benign
2	166037834	GC	G	C166037835A	SCN1A	NM_001165963.4(SCN1A):c.2887del:p.Ala963fs	coding	Pathogenic
2	166037849	T	TC	A166037853C	SCN1A	NM_001165963.4(SCN1A):c.2872dup:p.Asp958fs	coding	Pathogenic
2	166037858	G	GTC	A166037864C	SCN1A	NM_001165963.4(SCN1A):c.2862_2863dup:p.Thr955fs	coding	Pathogenic
2	166037927	CAGCGTGGG	C	C166037930T	SCN1A	NM_001165963.4(SCN1A):c.2787_2794del:p.Pro930fs	coding	Pathogenic
2	166037985	CA	C	A166037988G	SCN1A	NM_001165963.4(SCN1A):c.2736del:p.Phe912fs	coding	Pathogenic
2	166038077	AT	A	T166038078C	SCN1A	NM_001165963.4(SCN1A):c.2644del:p.Ile882fs	coding	Pathogenic
2	166038126	CT	C	T166038127C	SCN1A	NM_001165963.4(SCN1A):c.2595del:p.Val866fs	coding	Pathogenic
2	166039198	CTGAG	C	G166039200A	SCN1A	NM_001165963.4(SCN1A):c.2589+221_2589+224del	noncoding	Benign
2	166039403	CTT	C	T166039419A	SCN1A	NM_001165963.4(SCN1A):c.2589+18_2589+19del	noncoding	Benign
2	166039403	CTTT	C	T166039418A	SCN1A	NM_001165963.4(SCN1A):c.2589+17_2589+19del	noncoding	Benign
2	166039403	CTTTT	C	T166039417A	SCN1A	NM_001165963.4(SCN1A):c.2589+16_2589+19del	noncoding	Benign
2	166039427	CGAAAT	C	A166039431C	SCN1A	NM_001165963.4(SCN1A):c.2580_2584del:p.Phe861fs	coding	Pathogenic
2	166039483	GC	G	C166039484T	SCN1A	NM_001165963.4(SCN1A):c.2528del:p.Ser843fs	coding	Pathogenic
2	166039497	TAA	T	A166039500C	SCN1A	NM_001165963.4(SCN1A):c.2513_2514del:p.Phe838fs	coding	Pathogenic
2	166039501	AC	A	C166039503G	SCN1A	NM_001165963.4(SCN1A):c.2510del:p.Gly837fs	coding	Pathogenic
2	166039512	TA	T	A166039513T	SCN1A	NM_001165963.4(SCN1A):c.2499del:p.Asn833fs	coding	Pathogenic
2	166041229	AC	A	C166041231A	SCN1A	NM_001165963.4(SCN1A):c.2415+1del	noncoding	Pathogenic
2	166041243	T	TA	G166041244A	SCN1A	NM_001165963.4(SCN1A):c.2402_2403insT:p.Val802fs	coding	Pathogenic
2	166041301	GTATT	G	T166041304A	SCN1A	NM_001165963.4(SCN1A):c.2341_2344del:p.Asn781fs	coding	Pathogenic
2	166041358	AG	A	G166041360T	SCN1A	NM_001165963.4(SCN1A):c.2287del:p.Leu763fs	coding	Pathogenic
2	166041419	TG	T	G166041421A	SCN1A	NM_001165963.4(SCN1A):c.2226del:p.Asn743fs	coding	Pathogenic
2	166042405	TCA	T	C166042406G	SCN1A	NM_001165963.4(SCN1A):c.2061_2062del:p.Glu688fs	coding	Pathogenic
2	166043689	TATCTATTATCACCTCTGGCAGAAGCTGTCCAACAGGCGATGTAGGAACTGAAGGTCCACCAACCAAGGAAACCACACCATTGCAATCCACAGTGCTGTGCATCTTCCCATTCGCTGGAAACACTGCCAGCATCCGGGATGACCTACTGGTCTGACTCAGGTTGCTGTTGCGTCTCTCTCCGTGTCGTCGGGGCACAAACAAGGAATCTCTACGGCTCTCGTTATCCTCAAAGGTGCTGTGCTCATCATCTGCGAAGTCGTTCTCAGATCCCACATCCTTTGCTCGCCCTCTAAAGCTGAAAAGGCTTGTTCTGCTATTTCGCCTTGGTGAAAATAGGGAGCCACGGATGCTCAACAAAGACTAGAAGTTTGAAAGAGCAAACAAATAAAGTCATATTAATATGGACATTTGAATGTGATTTCATTTTGCAAGATTATGTAGAAGGAGATTTCAGCATTCATAACAGAATATGGTTCATTCCTTTTGATTATCATTCTCATTTTATGTGCATTCACATTAAATTAAATTACCTTGATAAAAGAAAGTTTCTAGCCCTTGGGATTAAAGAATGAGGAGATAGATTGCAACCTTAACATATTGAAACACACACACACACACATACACACACACCCTGAACGACCATTTCTCAAGTTCAAAGGGAAACATCCTTAGAATATGGCAATGGACGTGGTAAACATTCAGTGAACACTGGCACCATGACCTTAACAAGGCCACCTTGGTTTTTATGGATCTTGTCTTTCAAAAACTTTCAACACTCCTCACAATTTACTTTAGTCCACCTTTCTAAAATCACTTTAATTATTATTTCTTTTTCACCTATAAGGCATTGTATTGTTGGAACTTGAAGTTCATACTTCTGAAATTCAGAGTCATGTGCCTTTTGATCAAGTGTACCATGACTAATATTTTCAGAAGCATGCATGGTGACTTATAAAGAAGTTAGGGGGAAAAAAAACATAAAATCATAAAATAACCTAAGGACATTCCTGATCGACTATCCGGAGTTCCACATTTTTTTTTTTCTTAAAAGTGCTGAGGATCAAAAAGATTAAATGTCATTAGTTATAGACAAATATCAGCAGACAGTATCAGAATGACAGTCCAGTTCTCCTGACTGTCAACTTGGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAACTTAGAGGCTTCAGATGAGCTGTCTGAGAGCCTGCCTGCTGCACTGGGCTCTCTGGAATGTTCTGAGGCAGTTGCCGTTGCTGCCTGCTATATTGAAGAGAAATGATTTTAACATAGCACCTGAAGAGACTGTATCTTTCTTTGAAAGGGCTGAAGTATTTGCATGGCTTTTAAAAAATATATTGAACTGACTGAAGATCATCTCACAGAGAAGATTCTCTGCAAGTATAAGAGGAGATTTTTTTTTTCTTTCTACCTAATGAAGGCTTTTGGAGATAATTTAGTTTGCTCCATGGTAACATTTATTATGTCTCTGTTAATGCTCCACAGACCACGTATTCAAAAATATCCAACATGTATCAACAAGAAAATAAATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCACCATCTTCAAATCAGTACTGGTTCTTAAGGGGCACATGGGCATGGAATAAAACAATGCTTTTTGATTATAGCTTGTACTGGTACTAAGTTGACACTTTTTTATTATTATCATTGTTCCCAGGGTAACCTCGATAAATTAATTACTCTTGCATATAAATTAATATTTCTGAAACAACTTTCTTCTTTAGTAAAGACAATAAGTTTGTATGCTAAACAGAAAGATGAGAGAGATAGGAGAGGCATTTTATGATTTATCACACTGTGAGGACTAACACTTCACTATAAAAACAAGTAATCCTTTTTAGATGGTCAATCTGTGTAAGATTGGTAACATTCATATGTCTATTGGATGCTGCTGTATCAGAGATCATTATATTATTTGATCACTTCCTTATAAAGGTAATAAAGCAACCACGTTAAAAGCCAACATATTTTTAGTTAAAGAAAAAAGGAGACTATGTTTAAGAACTAGAGGAGCAACTCTTCATATGATAACCAATAATTTCTTGTTCTAAGAAAAGATGATTTCCTCCTAATGCCAGTCTACTCATTGAATAAAAGTCTCTCACTTGAAAATACCCCAAAATAACATTTTCCCTTTACTTTGAGAATCTTAAGATGATTAAAATAGCATGAGAGAGTTCTATTGTGGTTATTATTATACACATCTCAAATAAAATAATTAAACTAAATAAAAGTAAGTGGATCATCAAAATATAGAAATCATTATTAATTCCTCATACAACCACCTGCTCTTAGGTACTCACTTTCTCTTCAATATTACGTAACAATCAGAACGATAAAAGGTCAGTGCCATGAGACAGGGCAGCTTTACCTGAGCTGCCTCCTGTTGCTTTTTAAGCTGTTCAATCATCTGCTGAAATTCGGCCTCTTTCTGTTCTGCTTCTTCCAAGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTCTATGGCAGAATTTTTGTATTCACCAAGAATGAAACAGTCAATAAAATGCCATGGAGTCCTCCATTAACGACCTGAGCCTTTAGGAAAGTCAAGGAACAGACCAAAGTTATCTTTCTATATCTGCTTTTTCATTTTCATTACTTCCCACCTGAGGGATAATATTTGAGGGGGTAGATAGGGCTGAAGGGAGAATGTGCCTTCTGTTTAGGACAATCTGTGTCTGAGAAGGGTAGGGAACAGGTTTTGAGCCAAGAAGAAATGGGAGAGAATTGCAATCCTTGGCATCACTCTGCTCAGTATGTGTTATAATCAATAGGATAGAGGAACTCAAGTCTCGTTTCAAGTTCTGCTCTTTCTACTATATTATCATCCGGTTTTAATTTCATAACTCAATTGGTTTTCTTGTATACTTTTACTTAAATGGAGAGTGTGGCTCTTTAGTTCTCACCAGTTGATAAAGATTTTCCCAGAAGTCCTGAGTCATTAGTCGAAACAAGGACAAAAAAGCCCAACTGAAGGTATCAAAGCTTGTGTAGCCATAATTGGGATTTCTACCAGCTTTCACACACATATATCCCTCTGGACATTGGCTGCAAGTGGGGTAAAAGAAAGTATTACAAGTCGTTCTGCTGCCTTTTTACTCTGATACTATGCTATGATATTGCCTAGTCAGAAAGATTTGGTATTTCAAAATAAAAGTTTGACAAATAAGTAACTAATCTATTTCCCAACTTTTGACTGCATATAGTCTTATTAGCTACTTGGTGTCATCATTAAAATATGGTGCAGCATTTCTAATAATATTTTACAAAATAATTTTTGTTGATAATTTGCATTTTCAACACCTCCATTTCATTTTTACTACTATGGAGTCTCCAGAGTTTATAGCTCAATATACTTATCTAAAAGAACAACATTGTTATTATTATATACTCCTAAAAAAGTAGGAACAGGATTACTCCTCTTTTTGTATGTTTGCTGTTATATACAGTAGGTGTTTAATAGATATTTTTCTCTTTTTTTATACTTTTATTTGAAGTTCAGGGGTACGTACATGTACAGGTTTGTTATATAGGTAAATGTGTGTCATGAGGGTTTGTTGTGTAGATTATTTCATCACTGAGGTATTAAGCCTAGTACCCACTAGTTATTTTTCCTGATCCTCTCCCTCTTCCCACCTTGCACACTCTGGTAGGCCCTAGTGTGTGTTGTTCCCTATATGTGTCCATGTGTTCTCATCATTTAGCTCCCACTTATAAGTGAGGACATGCGGTACTTAGTTTTCTGTTCCTGCAATAGTTTGCTAAGGATAATAGCCTCCAGTTCTATCCATATCCCTGCAAAGGACATGATCTAGTTATTTTTTATGGCTGCATAGTATCCCATGATGTATATGTACCACATTTTCTTTATCCAGCCTATCATTGATGGACATTTAGGTTGATTCCATGTCTTTGCTATTGTGAATAGTGCTGCAATGAACATACGTGTGCATGTGTCTAAAAGTATTACTTCTTGTTTTAGAAAACATAAATCTTACCTAATATTTACATAATCTCATACTTTATCAAAAACCTTACATATAGCAAATTAATGTCAATAAAATTAGTTGGCTGTTATCTTCAGTTTCTATAAAAAGAGAGAAAAGATACACATATGTATGTGTACATACAAATATACACAGATACACACAAATTATTGACTTACCCTGCATCAGAGCTATTTCCACATAGTAGTGCATCTAAAAAACCCTCCAGGAAATAATGATATCCTGTTTGAAAAAAGAAAGTCGTATGATGAACATTTGCATTGTTAAAAACACTCAAATGAGAACAGGAAGGTCAGGTTCTACTTTTAAGTTTATTGAGTAATTTTAAATATATTATTCATTCAAAGGCACAAGTATTTGTCTCTTCTCCCTCTAAATTCTAGATATTCTATTAGATACTTTACAGTGCAAAGTATTTCTTCATTATGAAGAAATGACATTAGATTAGATACAGTGCAAAGATACTTTAGACACTTTACAGTGCAAAGTATTTCTTCATTATGAATGTAAAGTTAGTGATAATGACAGGTACTAACATAATCTTTCAAAAAGGTATTAGCATTTGTTCACCATTCTCACGAAAAAAATTCATTCAGTAAAAATAGACAGGAATGACAGGAATTTCTTTGTTTTTGCAAAACAGCCACATATTTCAAAATAAAAGAATAGTATATTTTCTGGTCCTCTCGCCTATATTTTTAACACTATACATTTTAATAATTAAGTATAACATATTCTCACATTTTGCAGAATATAGGCAACTTATAGTAAAATATGCATAAATCATATCAACAACTGAAATGAAAGCAATTTTAAAAAGTCTTAAATACTAAAGCTAAAATAATGACTATAGGTGAACACTACATTATCTCAAAGATTCCTGTTTCTTGCAAACTCCTTGGCTTCTTGCAATGTCCAGTTCTTCTATAACTTTTTCCTTGGTATTTTCAACTTTCTTTCTACTAAATATTGACATAATTAAGAACTCCCCTCACTGTGCTACCAGTAACCTGTATATACTTGAATTATTCTTAGGATGACACTACTATATTGTAATTATTTATTTACAAATATTCCTCCTAGAAAGTCCCAATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTGAGGAAAATATAATTTTTCAGTTATAATAGTTACCTTTAATTTTAATAAATTTAATTTTCTATTATTTTCAGAAATGAACCATTTTATTTATATTTGCATTTGGTTTAAAATAAGAACCATAGATGTTTAGAGCTGAAAATGACCTCAGATATTATTTTACTTCGAGTATTGGAAAAATGCAGTCCAATAAATTTTCCCTAGAGAGAATAAACCCTAAATAACCCTCATAGTCAGTATTTTGAACTTAGATAAAACAAACAAACAACAGATTTCAGGGAGCTGGTGATTGAAGTGGACCTACTGGCATTCGTATCACCAGCTACTAAGGAGGCTGAGATGGGAAGATGCCACCACACCCAACTCATTAAAAAAAGTATATATATATATATATATATATATGTGTGTATATATTTTTTTTTTGTAGAGAAGGGGTCTCACTATGTTGCCCACACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCAGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCACTGCACCCAACTAACATTTTCTATTACTGTCTCCTGAAGCTTTATTAACTGTAATTTTCTTCTTTTTAATGTAATACTACTTTTTAAATATAAGAATAAGATTTACTTTTAGGTATCACTTTATTTCCTTAAGGTAATAAAATAATCTATTAAACTATAACACTCTGAAGCCATGCATTACCTCCATTATTTTCCCCAGTGTACTATACAGTTTCTGATACATTAAAGACATTGTGTAATTAATGTATAATGAGTTACATTTGCATAGTATTGTAGAATTCGCAAAGGGCATTCACATATTTTATCTCCTTTCATTATATCAATCACCACAGGAAGAATGTATAGCAACCAAGGATCCTAGGAAAATTCTTTCTAGCTGAATTCTTCAGCCTTCCAAATGATGATAAAATAGAAAGTGGCATTTAGGAGTCAAAACTAGAGTAGTTATGAACAAAGTTGTTAAATGTATGTGGAAGCCATTGATAAGGTGATTAACAAAATTCTTCTTTTAGTTCCAGAAATATAAATA	T	C166043699T	SCN1A	NM_001165963.4(SCN1A):c.964+424_2022del	coding	Pathogenic
2	166043736	ACTGAAGG	A	C166043737T	SCN1A	NM_001165963.4(SCN1A):c.1969_1975del:p.Pro657fs	coding	Pathogenic
2	166043739	GA	G	A166043741G	SCN1A	NM_001165963.4(SCN1A):c.1972del:p.Ser658fs	coding	Pathogenic
2	166043811	AC	A	C166043812T	SCN1A	NM_001165963.4(SCN1A):c.1900del:p.Val634fs	coding	Pathogenic
2	166043877	C	CG	C166043882G	SCN1A	NM_001165963.4(SCN1A):c.1834dup:p.Arg612fs	coding	Pathogenic
2	166043903	GCT	G	T166043907G	SCN1A	NM_001165963.4(SCN1A):c.1807_1808del:p.Ser603fs	coding	Pathogenic
2	166043959	C	CCA	T166043964C	SCN1A	NM_001165963.4(SCN1A):c.1751_1752dup:p.Gly585fs	coding	Pathogenic
2	166043966	C	CT	G166043970T	SCN1A	NM_001165963.4(SCN1A):c.1745dup:p.Asp583fs	coding	Pathogenic
2	166043987	GA	G	A166043991G	SCN1A	NM_001165963.4(SCN1A):c.1724del:p.Phe575fs	coding	Pathogenic
2	166044002	GC	G	C166044003T	SCN1A	NM_001165963.4(SCN1A):c.1709del:p.Ser570fs	coding	Pathogenic
2	166045045	G	GA	G166045046A	SCN1A	NM_001165963.4(SCN1A):c.1659_1660insT:p.Gln554fs	coding	Pathogenic
2	166045064	CTT	C	T166045067C	SCN1A	NM_001165963.4(SCN1A):c.1639_1640del:p.Lys547fs	coding	Pathogenic
2	166045084	TC	T	C166045087T	SCN1A	NM_001165963.4(SCN1A):c.1620del:p.Asn541fs	coding	Pathogenic
2	166045187	CT	C	T166045188G	SCN1A	NM_001165963.4(SCN1A):c.1517del:p.Gln506fs	coding	Pathogenic
2	166045218	TC	T	C166045220T	SCN1A	NM_001165963.4(SCN1A):c.1486del:p.Glu496fs	coding	Pathogenic
2	166045478	AT	A	T166045488C	SCN1A	NM_001165963.4(SCN1A):c.1378-152del	noncoding	Benign
2	166046797	CT	C	T166046798G	SCN1A	NM_001165963.4(SCN1A):c.1349del:p.Gln450fs	coding	Pathogenic
2	166046822	GC	G	C166046824T	SCN1A	NM_001165963.4(SCN1A):c.1324del:p.Ala442fs	coding	Pathogenic
2	166046845	C	CA	G166046848A	SCN1A	NM_001165963.4(SCN1A):c.1301dup:p.Leu434fs	coding	Pathogenic
2	166046873	GC	G	C166046875A	SCN1A	NM_001165963.4(SCN1A):c.1273del:p.Ala425fs	coding	Pathogenic/Likely_pathogenic
2	166046944	TATC	T	C166046947G	SCN1A	NM_001165963.4(SCN1A):c.1200_1202del:p.Met400del	coding	Pathogenic
2	166046947	C	CA	T166046949A	SCN1A	NM_001165963.4(SCN1A):c.1199dup:p.Met400fs	coding	Pathogenic
2	166047639	A	AT	C166047644T	SCN1A	NM_001165963.4(SCN1A):c.1157dup:p.Asn386fs	coding	Pathogenic
2	166047660	CATT	C	T166047662G	SCN1A	NM_001165963.4(SCN1A):c.1134_1136del:p.Met379del	coding	Pathogenic
2	166047745	CACAT	C	C166047747T	SCN1A	NM_001165963.4(SCN1A):c.1048_1051del:p.Met350fs	coding	Pathogenic
2	166048908	AT	A	T166048909A	SCN1A	NM_001165963.4(SCN1A):c.1005del:p.Cys336fs	coding	Pathogenic
2	166051751	T	TC	A166051753C	SCN1A	NM_001165963.4(SCN1A):c.931dup:p.Glu311fs	coding	Pathogenic
2	166051752	CAA	C	A166051754G	SCN1A	NM_001165963.4(SCN1A):c.929_930del:p.Val309_Phe310insTer	coding	Pathogenic
2	166051770	TAA	T	A166051771G	SCN1A	NM_001165963.4(SCN1A):c.911_912del:p.Leu304fs	coding	Pathogenic
2	166052612	G	GAA	C166052626A	SCN1A	NM_001165963.4(SCN1A):c.694+227_694+228dup	noncoding	Benign
2	166052612	G	GA	C166052626A	SCN1A	NM_001165963.4(SCN1A):c.694+227dup	noncoding	Benign
2	166052619	A	AT	A166052620T	SCN1A	NM_001165963.4(SCN1A):c.694+232_694+233insA	noncoding	Benign
2	166052625	A	AC	A166052629C	SCN1A	NM_001165963.4(SCN1A):c.694+224dup	noncoding	Benign
2	166052890	C	CT	G166052892T	SCN1A	NM_001165963.4(SCN1A):c.655dup:p.Arg219fs	coding	Pathogenic
2	166054359	ATGTG	A	G166054367T	SCN1A	NM_001165963.4(SCN1A):c.602+269CA[3]	noncoding	Benign
2	166054635	T	TA	C166054637A	SCN1A	NM_001165963.4(SCN1A):c.602+2dup	noncoding	Pathogenic/Likely_pathogenic
2	166054643	TG	T	G166054644T	SCN1A	NM_001165963.4(SCN1A):c.596del:p.Thr199fs	coding	Pathogenic
2	166054698	TC	T	C166054699T	SCN1A	NM_001165963.4(SCN1A):c.541del:p.Glu181fs	coding	Pathogenic
2	166054722	A	AT	A166054728T	SCN1A	NM_001165963.4(SCN1A):c.517dup:p.Ile173fs	coding	Pathogenic
2	166054727	TA	T	A166054728T	SCN1A	NM_001165963.4(SCN1A):c.512del:p.Ile171fs	coding	Pathogenic
2	166054729	TAA	T	A166054730G	SCN1A	NM_001165963.4(SCN1A):c.509_510del:p.Leu170fs	coding	Pathogenic
2	166054759	AG	A	G166054761T	SCN1A	NM_001165963.4(SCN1A):c.480del:p.Phe161fs	coding	Pathogenic
2	166054761	GT	G	T166054762G	SCN1A	NM_001165963.4(SCN1A):c.478del:p.Thr160fs	coding	Pathogenic
2	166056453	AACAC	A	C166056457G	SCN1A	NM_001165963.4(SCN1A):c.427_430del:p.Val143fs	coding	Pathogenic
2	166073316	TAGGCAATTAGCAGCAAAATATGCCTGATAAAAAACACTCACTTTCTTATTGATATAGTAGGGGTCCAGGTCCTCCAGGGGCTCTGACACCATCTCTGGAGGAATGTCTCCATAAATAAATGGAAGGTTCTTTCCAGCTTCCAAGTCACTATTTGGCTTTGGGCCATTTTCGTCGTCATCTTTTTTGTCTGGTTTGGGATTCTTTGCCTTTTCTTCTGCAATGCGTCTTTCAA	T	A166073317T	SCN1A	NM_001165963.4(SCN1A):c.74_264+41del	noncoding	Pathogenic
2	166073350	ACACT	A	C166073355T	SCN1A	NM_001165963.4(SCN1A):c.264+4_264+7del	noncoding	Pathogenic/Likely_pathogenic
2	166073374	TAGGGGTCCAGGTCCTCC	T	T166073380C	SCN1A	NM_001165963.4(SCN1A):c.231_247del:p.Glu78fs	coding	Pathogenic
2	166073440	AG	A	G166073442T	SCN1A	NM_001165963.4(SCN1A):c.181del:p.Leu61fs	coding	Pathogenic
2	166073494	TCT	GG	T166073494G	SCN1A	NM_001165963.4(SCN1A):c.126_128delinsCC:p.Lys42fs	coding	Pathogenic
2	166203985	C	CAAAA	T166203991A	SCN9A	NM_001365536.1(SCN9A):c.4740_4743dup:p.Asp1582delinsPheTer	coding	Pathogenic
2	166228700	CAG	C	G166228704T	SCN9A	NM_001365536.1(SCN9A):c.4195_4196del:p.Leu1399fs	coding	Pathogenic
2	166233445	TA	T	A166233448G	SCN9A	NM_001365536.1(SCN9A):c.3818del:p.Thr1272_Leu1273insTer	coding	Pathogenic
2	166251784	T	TG	C166251787G	SCN9A	NM_001365536.1(SCN9A):c.3452dup:p.Glu1152fs	coding	Pathogenic
2	166272550	TCCACGCTGCTTCCAAAA	T	G166272555T	SCN9A	NM_001365536.1(SCN9A):c.3183_3199del:p.Phe1062fs	coding	Pathogenic
2	166272653	TA	T	A166272654G	SCN9A	NM_001365536.1(SCN9A):c.3096del:p.Lys1033fs	coding	Pathogenic
2	166272765	A	AG	A166272766G	SCN9A	NM_001365536.1(SCN9A):c.2984_2985insC:p.Ile995_Lys996insTer	coding	Pathogenic
2	166272879	TA	T	A166272880T	SCN9A	NM_001365536.1(SCN9A):c.2875-5del	noncoding	Benign/Likely_benign
2	166276970	TCT	AA	T166276970A	SCN9A	NM_001365536.1(SCN9A):c.2874+11_2874+13delinsTT	noncoding	Benign/Likely_benign
2	166277189	T	TA	C166277191A	SCN9A	NM_001365536.1(SCN9A):c.2667dup:p.Lys890Ter	coding	Pathogenic
2	166280495	CT	C	T166280500G	SCN9A	NM_001365536.1(SCN9A):c.2204del:p.Lys735fs	coding	Pathogenic
2	166280602	G	GA	G166280609A	SCN9A	NM_001365536.1(SCN9A):c.2105-8dup	noncoding	Benign
2	166284748	C	CAG	T166284749A	SCN9A	NM_001365536.1(SCN9A):c.1678_1679insCT:p.Arg560fs	coding	Pathogenic
2	166284837	T	TA	C166284846A	SCN9A	NM_001365536.1(SCN9A):c.1603-21dup	noncoding	Benign/Likely_benign
2	166286440	AT	A	T166286443C	SCN9A	NM_001365536.1(SCN9A):c.1497del:p.Lys499fs	coding	Pathogenic
2	166288625	TGC	GG	T166288625G	SCN9A	NM_001365536.1(SCN9A):c.1124_1126delinsCC:p.Gly375fs	coding	Pathogenic
2	166311640	CT	C	T166311644C	SCN9A	NM_001365536.1(SCN9A):c.116del:p.Lys39fs	coding	Pathogenic
2	168923783	TC	T	C168923785G	ABCB11	NM_003742.4(ABCB11):c.3804del:p.Thr1269fs	coding	Pathogenic
2	168924761	TAG	T	A168924766T	ABCB11	NM_003742.4(ABCB11):c.3659_3660del:p.Leu1219_Ser1220insTer	coding	Pathogenic
2	168924785	CA	C	A168924787C	ABCB11	NM_003742.4(ABCB11):c.3636del:p.Ser1214fs	coding	Pathogenic
2	168927282	CA	C	A168927283C	ABCB11	NM_003742.4(ABCB11):c.3491del:p.Val1164fs	coding	Pathogenic
2	168930674	T	TTGATCAGGATCATAGAAGGCTTACCACCTTCTA	A168930692G	ABCB11	NM_003742.4(ABCB11):c.3401_3402insTAGAAGGTGGTAAGCCTTCTATGATCCTGATCA:p.Gln1134delinsHisArgArgTrpTer	coding	Pathogenic
2	168932379	AT	A	T168932384C	ABCB11	NM_003742.4(ABCB11):c.3210del:p.Lys1070fs	coding	Pathogenic
2	168932415	GT	G	T168932417G	ABCB11	NM_003742.4(ABCB11):c.3174del:p.Gln1058fs	coding	Pathogenic
2	168936314	G	GA	G168936317A	ABCB11	NM_003742.4(ABCB11):c.2729dup:p.Ala912fs	coding	Pathogenic
2	168944653	AG	A	G168944656C	ABCB11	NM_003742.4(ABCB11):c.2561del:p.Pro854fs	coding	Pathogenic
2	168944726	CT	C	T168944731G	ABCB11	NM_003742.4(ABCB11):c.2488del:p.Arg830fs	coding	Pathogenic
2	168944763	AT	A	T168944764C	ABCB11	NM_003742.4(ABCB11):c.2451del:p.Tyr818fs	coding	Pathogenic
2	168944991	T	TTTG	A168944994G	ABCB11	NM_003742.4(ABCB11):c.2344-31_2344-30insAAC	noncoding	Benign
2	168957987	A	AG	C168957990G	ABCB11	NM_003742.4(ABCB11):c.2319dup:p.Phe774fs	coding	Pathogenic
2	168964598	CA	C	A168964604C	ABCB11	NM_003742.4(ABCB11):c.2076-291del	noncoding	Benign
2	168968130	A	ATTT	A168968139T	ABCB11	NM_003742.4(ABCB11):c.2075+289_2075+291dup	noncoding	Benign
2	168968130	A	ATTTT	A168968139T	ABCB11	NM_003742.4(ABCB11):c.2075+289_2075+292dup	noncoding	Benign
2	168968131	T	TTTTC	T168968135C	ABCB11	NM_003742.4(ABCB11):c.2075+295_2075+296insAAAG	noncoding	Benign
2	168968737	AT	A	T168968746A	ABCB11	NM_003742.4(ABCB11):c.2012-248del	noncoding	Benign
2	168968790	CA	C	A168968800T	ABCB11	NM_003742.4(ABCB11):c.2012-301del	noncoding	Benign
2	168968790	C	CA	T168968801A	ABCB11	NM_003742.4(ABCB11):c.2012-310dup	noncoding	Benign
2	168969116	TA	T	A168969131G	ABCB11	NM_003742.4(ABCB11):c.2011+233del	noncoding	Benign
2	168969116	T	TA	G168969132A	ABCB11	NM_003742.4(ABCB11):c.2011+219dup	noncoding	Benign
2	168969130	AAG	A	A168969131G	ABCB11	NM_003742.4(ABCB11):c.2011+218_2011+219del	noncoding	Benign
2	168969131	AG	A	G168969138A	ABCB11	NM_003742.4(ABCB11):c.2011+218del	noncoding	Benign
2	168969419	CT	C	T168969422C	ABCB11	NM_003742.4(ABCB11):c.1941del:p.Gly648fs	coding	Pathogenic
2	168971718	AT	A	T168971719G	ABCB11	NM_003742.4(ABCB11):c.1638+128del	noncoding	Benign
2	168972338	TAGAGA	T	A168972339C	ABCB11	NM_003742.4(ABCB11):c.1435-293_1435-289del	noncoding	Benign
2	168973726	AG	A	G168973730T	ABCB11	NM_003742.4(ABCB11):c.1422del:p.Cys475fs	coding	Pathogenic
2	168980197	AT	A	T168980204A	ABCB11	NM_003742.4(ABCB11):c.1084-219del	noncoding	Benign
2	168986232	CTA	C	A168986234T	ABCB11	NM_003742.4(ABCB11):c.959_960del:p.Ile320fs	coding	Pathogenic
2	168990802	T	TTTCAACCTCTCTTTTCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATTTGTTTGAGGTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCA	C168990820T	ABCB11	NM_003742.4(ABCB11):c.906_907insTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGACCTCAAACAAATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGAGAGGTTGAA:p.Arg303delinsTrpGluLysIlePheAlaThrTyrSerSerAspLysGlyLeuIleSerArgIleTyrAsnAspLeuLysGlnXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysArgGlyTer	coding	Pathogenic
2	168990865	CA	C	A168990866G	ABCB11	NM_003742.4(ABCB11):c.843del:p.Asp282fs	coding	Pathogenic
2	168993868	A	AT	A168993873T	ABCB11	NM_003742.4(ABCB11):c.625dup:p.Ile209fs	coding	Pathogenic
2	168995427	TA	T	A168995431T	ABCB11	NM_003742.4(ABCB11):c.532del:p.Tyr178fs	coding	Pathogenic
2	168996804	TA	T	A168996810T	ABCB11	NM_003742.4(ABCB11):c.390-83del	noncoding	Benign
2	168996810	AT	A	T168996811A	ABCB11	NM_003742.4(ABCB11):c.390-89del	noncoding	Benign
2	169013397	ATC	A	C169013399G	ABCB11	NM_003742.4(ABCB11):c.262_263del:p.Asp88fs	coding	Pathogenic
2	169016806	GA	G	A169016815T	ABCB11	NM_003742.4(ABCB11):c.77-8del	noncoding	Benign/Likely_benign
2	169016806	G	GAA	T169016816A	ABCB11	NM_003742.4(ABCB11):c.77-16_77-15dup	noncoding	Benign
2	169016806	G	GA	T169016816A	ABCB11	NM_003742.4(ABCB11):c.77-16dup	noncoding	Benign/Likely_benign
2	169016962	G	GTCTC	A169016972C	ABCB11	NM_003742.4(ABCB11):c.77-171GA[6]	noncoding	Benign
2	169016979	TACACAC	T	A169017018G	ABCB11	NM_003742.4(ABCB11):c.77-224GT[19]	noncoding	Benign
2	169016979	TACAC	T	A169017020G	ABCB11	NM_003742.4(ABCB11):c.77-224GT[20]	noncoding	Benign
2	169016979	TAC	T	A169017022G	ABCB11	NM_003742.4(ABCB11):c.77-224GT[21]	noncoding	Benign
2	169016979	T	TACACAC	G169017024A	ABCB11	NM_003742.4(ABCB11):c.77-224GT[25]	noncoding	Benign
2	169016979	T	TACAC	G169017024A	ABCB11	NM_003742.4(ABCB11):c.77-224GT[24]	noncoding	Benign
2	169016979	T	TAC	G169017024A	ABCB11	NM_003742.4(ABCB11):c.77-224GT[23]	noncoding	Benign
2	169017128	A	AACATTTCTAAATTAGCTGAAGAAGATCTG	T169017131A	ABCB11	NM_003742.4(ABCB11):c.77-330_77-329insGTCAGATCTTCTTCAGCTAATTTAGAAAT	noncoding	Benign
2	169129095	AG	A	G169129099A	LRP2	NM_004525.3(LRP2):c.13729-12del	noncoding	Benign
2	169132641	CT	C	T169132643C	LRP2	NM_004525.3(LRP2):c.13660del:p.Ser4554fs	coding	Pathogenic
2	169137511	A	AAG	A169137535G	LRP2	NM_004525.3(LRP2):c.13519-40CT[12]	noncoding	Benign
2	169137511	A	AAGAG	A169137535G	LRP2	NM_004525.3(LRP2):c.13519-40CT[13]	noncoding	Benign
2	169137511	AAG	A	G169137533A	LRP2	NM_004525.3(LRP2):c.13519-40CT[10]	noncoding	Benign
2	169137511	AAGAG	A	G169137531A	LRP2	NM_004525.3(LRP2):c.13519-40CT[9]	noncoding	Benign/Likely_benign
2	169137649	C	CAA	G169137669A	LRP2	NM_004525.3(LRP2):c.13519-175_13519-174dup	noncoding	Benign
2	169137649	C	CA	G169137669A	LRP2	NM_004525.3(LRP2):c.13519-175dup	noncoding	Benign
2	169168643	G	GC	T169168646C	LRP2	NM_004525.3(LRP2):c.11530dup:p.Ala3844fs	coding	Pathogenic
2	169170654	GC	G	C169170655A	LRP2	NM_004525.3(LRP2):c.11276del:p.Cys3759fs	coding	Pathogenic
2	169175019	TA	T	A169175038C	LRP2	NM_004525.3(LRP2):c.10768+173del	noncoding	Benign
2	169175643	CA	C	A169175653C	LRP2	NM_004525.3(LRP2):c.10572-255del	noncoding	Benign
2	169175643	C	CA	C169175654A	LRP2	NM_004525.3(LRP2):c.10572-264dup	noncoding	Benign
2	169181725	CAGACTGCATTCTGAATTCTTTTCTG	C	A169181726C	LRP2	NM_004525.3(LRP2):c.9999-132_9999-108del	noncoding	Benign
2	169197260	CA	C	A169197272T	LRP2	NM_004525.3(LRP2):c.8579-231del	noncoding	Benign
2	169197260	C	CA	T169197273A	LRP2	NM_004525.3(LRP2):c.8579-242dup	noncoding	Benign
2	169201626	ACG	A	C169201627G	LRP2	NM_004525.3(LRP2):c.8452_8452+1del	noncoding	Pathogenic
2	169204273	TA	T	A169204277T	LRP2	NM_004525.3(LRP2):c.7716-3del	noncoding	Benign
2	169204283	CA	C	A169204292T	LRP2	NM_004525.3(LRP2):c.7716-13del	noncoding	Benign
2	169204283	C	CA	T169204293A	LRP2	NM_004525.3(LRP2):c.7716-13dup	noncoding	Benign
2	169205691	TA	T	A169205705G	LRP2	NM_004525.3(LRP2):c.7557-55del	noncoding	Benign
2	169205691	T	TA	G169205706A	LRP2	NM_004525.3(LRP2):c.7557-68dup	noncoding	Benign
2	169220660	CA	C	A169220661C	LRP2	NM_004525.3(LRP2):c.5539-98del	noncoding	Benign
2	169226572	T	TAAGAAAGGTTGGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A169226584G	LRP2	NM_004525.3(LRP2):c.5243_5244insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCCAACCTTTCTT:p.Leu1748delinsPhePhePhePhePhePhePheXaaXaaXaaXaaGlyPheHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
2	169226593	G	GA	T169226598A	LRP2	NM_004525.3(LRP2):c.5228-6dup	noncoding	Benign
2	169237087	T	TA	G169237096A	LRP2	NM_004525.3(LRP2):c.4691+15dup	noncoding	Benign
2	169239779	G	GA	G169239786A	LRP2	NM_004525.3(LRP2):c.4046-5dup	noncoding	Benign
2	169240109	CA	C	A169240110C	LRP2	NM_004525.3(LRP2):c.4046-335del	noncoding	Benign
2	169242963	TG	CA	T169242963C	LRP2	NM_004525.3(LRP2):c.3659_3660inv:p.Ala1220Val	coding	Benign
2	169247391	G	GA	C169247393A	LRP2	NM_004525.3(LRP2):c.2894dup:p.Asn966fs	coding	Pathogenic
2	169255968	T	TA	T169255970A	LRP2	NM_004525.3(LRP2):c.2770+137dup	noncoding	Benign
2	169256437	CAATT	C	A169256438G	LRP2	NM_004525.3(LRP2):c.2640-205_2640-202del	noncoding	Benign
2	169259345	TAAAA	T	A169259363C	LRP2	NM_004525.3(LRP2):c.2321-132_2321-129del	noncoding	Benign
2	169259345	TAAA	T	A169259364C	LRP2	NM_004525.3(LRP2):c.2321-131_2321-129del	noncoding	Benign
2	169259345	TAA	T	A169259365C	LRP2	NM_004525.3(LRP2):c.2321-130_2321-129del	noncoding	Benign
2	169259345	TA	T	A169259366C	LRP2	NM_004525.3(LRP2):c.2321-129del	noncoding	Benign
2	169270757	T	TATAAATAAATAA	G169270794A	LRP2	NM_004525.3(LRP2):c.2320+111TTAT[12]	noncoding	Benign
2	169270757	T	TATAAATAA	G169270794A	LRP2	NM_004525.3(LRP2):c.2320+111TTAT[11]	noncoding	Benign
2	169270757	T	TATAA	G169270794A	LRP2	NM_004525.3(LRP2):c.2320+111TTAT[10]	noncoding	Benign
2	169270870	TAC	T	C169270890A	LRP2	NM_004525.3(LRP2):c.2320+14GT[9]	noncoding	Benign
2	169270870	T	TAC	A169270892C	LRP2	NM_004525.3(LRP2):c.2320+14GT[11]	noncoding	Benign
2	169289163	CT	C	T169289166G	LRP2	NM_004525.3(LRP2):c.923-19del	noncoding	Benign
2	169292524	G	GAT	A169292526T	LRP2	NM_004525.3(LRP2):c.653-156_653-155insTA	noncoding	Benign
2	169294717	TAAAA	T	A169294737G	LRP2	NM_004525.3(LRP2):c.428-11_428-8del	noncoding	Benign
2	169294895	TAATC	T	T169294898A	LRP2	NM_004525.3(LRP2):c.428-189_428-186del	noncoding	Benign
2	169482074	C	CA	C169482076A	BBS5	NM_152384.3(BBS5):c.60-176dup	noncoding	Benign
2	169492889	TA	T	A169492893T	BBS5	NM_152384.3(BBS5):c.406del:p.Met136fs	coding	Pathogenic
2	169493776	A	AAG	T169493778G	BBS5	NM_152384.3(BBS5):c.559_560insGA:p.Ile187fs	coding	Pathogenic
2	169493789	GC	TA	G169493789T	BBS5	NM_152384.3(BBS5):c.571_572delinsTA:p.Ala191Ter	coding	Pathogenic
2	169497607	CTT	C	T169497611C	BBS5	NM_152384.3(BBS5):c.619-16_619-15del	noncoding	Benign
2	169497662	AG	A	G169497663C	BBS5	NM_152384.3(BBS5):c.655del:p.Ala219fs	coding	Pathogenic
2	169499509	TA	T	A169499513T	BBS5	NM_152384.3(BBS5):c.709del:p.Lys236_Ile237insTer	coding	Pathogenic
2	169514550	ATCTC	A	T169514553A	KLHL41	NM_006063.3(KLHL41):c.1111-21_1111-18del	noncoding	Benign
2	169514563	G	GT	C169514571T	KLHL41	NM_006063.3(KLHL41):c.1111-4dup	noncoding	Benign
2	169514890	CAA	C	A169514892G	KLHL41	NM_006063.3(KLHL41):c.1307_1308del:p.Lys436fs	coding	Pathogenic
2	169515035	C	CT	G169515051T	KLHL41	NM_006063.3(KLHL41):c.1376+89dup	noncoding	Benign
2	169518223	C	CA	G169518230A	KLHL41	NM_006063.3(KLHL41):c.1416dup:p.Gly473fs	coding	Pathogenic
2	169525565	C	CT	C169525575T	KLHL41	NM_006063.3(KLHL41):c.1710-11dup	noncoding	Benign
2	169812475	CTT	C	T169812476G	METTL5	NM_014168.4(METTL5):c.571_572del:p.Lys191fs	coding	Pathogenic/Likely_pathogenic
2	170842599	AC	A	C170842600G	GAD1	NM_000817.3(GAD1):c.639-1445del	coding	Pathogenic
2	170844096	TAAG	T	A170844101T	GAD1	NM_000817.3(GAD1):c.692AGA[1]:p.Lys232del	coding	Pathogenic
2	170845562	GAAGTT	G	T170845566A	GAD1	NM_000817.3(GAD1):c.812_816del:p.Val271fs	coding	Pathogenic
2	171443349	T	TA	T171443350A	DCAF17	NM_025000.4(DCAF17):c.231-174_231-173insA	noncoding	Benign
2	171448429	T	TAAC	T171448430A	DCAF17	NM_025000.4(DCAF17):c.322-252_322-251insAAC	noncoding	Benign
2	171448665	C	CT	C171448667T	DCAF17	NM_025000.4(DCAF17):c.322-15dup	noncoding	Benign
2	171448665	CTCTT	C	C171448667T	DCAF17	NM_025000.4(DCAF17):c.322-14_322-11del	noncoding	Benign/Likely_benign
2	171448667	C	CT	A171448679T	DCAF17	NM_025000.4(DCAF17):c.322-3dup	noncoding	Benign
2	171449859	TCTC	T	C171449860T	DCAF17	NM_025000.4(DCAF17):c.459-19_459-17del	noncoding	Benign
2	171458134	AT	A	T171458145A	DCAF17	NM_025000.4(DCAF17):c.732+70del	noncoding	Benign
2	171473565	A	AT	C171473567T	DCAF17	NM_025000.4(DCAF17):c.982-300dup	noncoding	Benign
2	171473623	TA	T	A171473625C	DCAF17	NM_025000.4(DCAF17):c.982-241del	noncoding	Benign
2	171791430	TA	T	A171791439T	SLC25A12	NM_003705.5(SLC25A12):c.1585+20del	noncoding	Benign
2	171791589	CCT	C	C171791590G	SLC25A12	NM_003705.5(SLC25A12):c.1447-2_1447-1del	coding	Pathogenic
2	171833961	AC	A	C171833964T	SLC25A12	NM_003705.5(SLC25A12):c.845+1del	noncoding	Pathogenic
2	171834067	GA	G	A171834076G	SLC25A12	NM_003705.5(SLC25A12):c.752-12del	noncoding	Benign
2	171893212	AAT	A	A171893215G	SLC25A12	NM_003705.5(SLC25A12):c.57_58del:p.Phe20fs	coding	Pathogenic
2	171893273	GA	G	A171893281G	SLC25A12	NM_003705.5(SLC25A12):c.13-16del	noncoding	Benign
2	172465821	TAC	T	A172465822T	ITGA6	NM_000210.4(ITGA6):c.307+159_307+160del	noncoding	Benign
2	172469433	T	TATGATTTAGTACC	A172469446C	ITGA6	NM_000210.4(ITGA6):c.643+65_643+66insCATGATTTAGTAC	noncoding	Benign
2	172474087	TC	T	C172474088T	ITGA6	NM_000210.4(ITGA6):c.809del:p.Ser270fs	coding	Pathogenic
2	172474193	AC	A	C172474194A	ITGA6	NM_000210.4(ITGA6):c.915del:p.His305fs	coding	Pathogenic
2	172476249	A	ACT	A172476250C	ITGA6	NM_000210.4(ITGA6):c.1270-146_1270-145insCT	noncoding	Benign
2	172487718	GT	G	T172487725A	ITGA6	NM_000210.4(ITGA6):c.2245-3del	noncoding	Benign/Likely_benign
2	172489385	AC	A	C172489386G	ITGA6	NM_000210.4(ITGA6):c.2506-99del	noncoding	Benign
2	172504015	CTTAGACATTCCCATTTAGTGTATTTGCTTCTTTGTGAGA	C	G172504019A	ITGA6	NM_000210.4(ITGA6):c.*23-72_*23-34del	noncoding	Benign
2	172504272	A	AT	G172504273T	ITGA6	NM_000210.4(ITGA6):c.*204_*205insT	noncoding	Benign/Likely_benign
2	173238360	A	AT	A173238369T	MAP3K20	NM_016653.3(MAP3K20):c.1204-5dup	noncoding	Benign
2	173239309	G	GA	C173239324A	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1267-81dup	noncoding	Benign
2	173239445	G	GAACCTGGAACTGGTTTTTGGTTTTCACTTGA	A173239481T	MAP3K20	NM_016653.3(MAP3K20):c.1313_1343dup:p.Pro452fs	coding	Pathogenic
2	173258576	GA	G	A173258588G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.1360-111del	noncoding	Benign
2	173258680	ATTTTGT	A	G173258685A	MAP3K20	NM_016653.3(MAP3K20):c.1360-14_1360-9del	noncoding	Benign
2	173258685	GT	G	T173258690A	MAP3K20	NM_016653.3(MAP3K20):c.1360-9del	noncoding	Benign
2	173263726	CGTTT	C	G173263735T	MAP3K20	NM_016653.3(MAP3K20):c.1552-18GTTT[2]	noncoding	Benign
2	173266783	TA	T	A173266800G	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.*50del	noncoding	Benign
2	173266783	T	TAAA	G173266801A	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.*48_*50dup	noncoding	Benign
2	173266783	T	TAA	G173266801A	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.*49_*50dup	noncoding	Benign
2	173266783	T	TA	G173266801A	MAP3K20;MAP3K20-AS1	NM_016653.3(MAP3K20):c.*50dup	noncoding	Benign
2	173367296	G	GT	C173367306T	CDCA7	NM_031942.5(CDCA7):c.1322+19dup	noncoding	Benign
2	174337273	G	GTGCAACAAGCGCTTCA	G174337293A	SP9	NM_001145250.2(SP9):c.1192_1207dup:p.Arg403fs	coding	Pathogenic
2	174337299	AC	A	C174337301A	SP9	NM_001145250.2(SP9):c.1216del:p.His406fs	coding	Pathogenic
2	174574953	T	TAA	T174574967A	WIPF1	NM_001375834.1(WIPF1):c.358+238_358+239dup	noncoding	Benign
2	174574953	T	TA	T174574967A	WIPF1	NM_001375834.1(WIPF1):c.358+238dup	noncoding	Benign
2	174750180	CAAA	C	A174750195T	CHRNA1	NM_000079.4(CHRNA1):c.779-14_779-12del	noncoding	Benign
2	174754240	G	GC	G174754243C	CHRNA1	NM_000079.4(CHRNA1):c.518dup:p.Ser174fs	coding	Pathogenic/Likely_pathogenic
2	174754317	AG	A	G174754318T	CHRNA1	NM_000079.4(CHRNA1):c.441del:p.Cys148fs	coding	Pathogenic
2	174757319	A	AT	A174757331T	CHRNA1	NM_000079.4(CHRNA1):c.344+236dup	noncoding	Benign
2	174757450	TG	T	G174757453T	CHRNA1	NM_000079.4(CHRNA1):c.344+115del	noncoding	Benign
2	174757617	A	AT	C174757625T	CHRNA1	NM_000079.4(CHRNA1):c.292dup:p.Ile98fs	coding	Pathogenic
2	174759543	T	TGGTCTTCCACTGGCCGC	A174759561G	CHRNA1	NM_000079.4(CHRNA1):c.117_133dup:p.His45fs	coding	Pathogenic
2	174759929	TACAC	T	A174759956G	CHRNA1	NM_000079.4(CHRNA1):c.44-326GT[13]	noncoding	Benign
2	174759929	TAC	T	A174759958G	CHRNA1	NM_000079.4(CHRNA1):c.44-326GT[14]	noncoding	Benign
2	174759929	T	TACACACACAC	G174759960A	CHRNA1	NM_000079.4(CHRNA1):c.44-326GT[20]	noncoding	Benign
2	174759929	T	TACACAC	G174759960A	CHRNA1	NM_000079.4(CHRNA1):c.44-326GT[18]	noncoding	Benign
2	174759929	T	TAC	G174759960A	CHRNA1	NM_000079.4(CHRNA1):c.44-326GT[16]	noncoding	Benign
2	176093057	G	GGGCGGCGGCGGCGGCAGCGGCGGCTGC	C176093103G	HOXD13	NM_000523.4(HOXD13):c.186_212dup:p.Ala63_Ala71dup	coding	Pathogenic
2	176093058	G	GGCGGCGGCGGCGGCAGCGGCGGCT	G176093097A	HOXD13	NM_000523.4(HOXD13):c.183_206dup:p.Ala64_Ala71dup	coding	Pathogenic
2	176093202	CAA	C	A176093204G	HOXD13	NM_000523.4(HOXD13):c.314_315del:p.Lys105fs	coding	Pathogenic
2	176093427	GGCCAACGAGGT	G	A176093432G	HOXD13	NM_000523.4(HOXD13):c.542_552del:p.Asn181fs	coding	Pathogenic
2	176093597	AC	A	C176093598G	HOXD13	NM_000523.4(HOXD13):c.708del:p.Asn236fs	coding	Pathogenic
2	176094385	G	GCA	A176094418C	HOXD13	NM_000523.4(HOXD13):c.782-94CA[17]	noncoding	Benign
2	176094385	G	GCACA	A176094418C	HOXD13	NM_000523.4(HOXD13):c.782-94CA[18]	noncoding	Benign
2	176094385	G	GCACACA	A176094418C	HOXD13	NM_000523.4(HOXD13):c.782-94CA[19]	noncoding	Benign
2	176119464	T	TATATATATATATATATAA	A176119466T	HOXD10	NM_002148.4(HOXD10):c.*234AT[8]AAA[1]	noncoding	Benign
2	177420627	C	CA	T177420632A	AGPS	NM_003659.4(AGPS):c.350+273dup	noncoding	Benign
2	177436968	AC	A	C177436970A	AGPS	NM_003659.4(AGPS):c.563-10del	noncoding	Benign
2	177461748	C	CT	G177461765T	AGPS	NM_003659.4(AGPS):c.871-129dup	noncoding	Benign
2	177461748	CT	C	T177461764G	AGPS	NM_003659.4(AGPS):c.871-129del	noncoding	Benign
2	177461875	TA	T	A177461878T	AGPS	NM_003659.4(AGPS):c.871-15del	noncoding	Benign
2	177481926	GCCATTATTCC	G	T177481930G	AGPS	NM_003659.4(AGPS):c.1106-129_1106-120del	noncoding	Benign
2	177482198	A	AAT	C177482212T	AGPS	NM_003659.4(AGPS):c.1233+13AT[7]	noncoding	Benign
2	177499600	A	AT	G177499614T	AGPS	NM_003659.4(AGPS):c.1363-5dup	noncoding	Benign
2	177499600	AT	A	T177499613G	AGPS	NM_003659.4(AGPS):c.1363-5del	noncoding	Benign
2	177505483	AAC	A	C177505485G	AGPS	NM_003659.4(AGPS):c.1476-21_1476-20del	noncoding	Benign
2	177513809	C	CT	A177513817T	AGPS	NM_003659.4(AGPS):c.1608-3dup	noncoding	Benign
2	177629445	G	GGGA	T177629452G	PDE11A	NM_016953.4(PDE11A):c.2758TCC[3]:p.Ser921dup	coding	Benign
2	177697404	GAGGAC	G	A177697408T	PDE11A	NM_016953.4(PDE11A):c.2268_2272del:p.Ser757fs	coding	Pathogenic/Likely_pathogenic
2	178436129	GA	G	A178436138T	PRKRA	NM_003690.5(PRKRA):c.784+15del	noncoding	Benign
2	178441714	GA	G	A178441719G	PRKRA	NM_003690.5(PRKRA):c.515-11del	noncoding	Benign/Likely_benign
2	178447713	G	GTAC	G178447717T	PRKRA	NM_003690.5(PRKRA):c.236-130_236-128dup	noncoding	Benign
2	178456312	GA	G	A178456323C	PJVK	NM_001042702.5(PJVK):c.549+172del	noncoding	Benign
2	178458214	TA	T	A178458228G	PJVK	NM_001042702.5(PJVK):c.550-282del	noncoding	Benign
2	178460848	CAAAAAAAAAA	C	A178460863G	PJVK	NM_001042702.5(PJVK):c.767-119_767-110del	noncoding	Benign
2	178460848	CA	C	A178460872G	PJVK	NM_001042702.5(PJVK):c.767-110del	noncoding	Benign
2	178460848	C	CAA	G178460873A	PJVK	NM_001042702.5(PJVK):c.767-111_767-110dup	noncoding	Benign
2	178460848	C	CA	G178460873A	PJVK	NM_001042702.5(PJVK):c.767-110dup	noncoding	Benign
2	178461092	AC	A	C178461095A	PJVK	NM_001042702.5(PJVK):c.880del:p.His294fs	coding	Pathogenic
2	178461163	CT	C	T178461165C	PJVK	NM_001042702.5(PJVK):c.950del:p.Phe317fs	coding	Pathogenic
2	178526912	C	CT	C178526921T	TTN	NM_001267550.2(TTN):c.*99dup	noncoding	Benign/Likely_benign
2	178527324	CA	C	A178527332G	TTN	NM_001267550.2(TTN):c.107681-18del	noncoding	Benign
2	178527324	C	CA	G178527333A	TTN	NM_001267550.2(TTN):c.107681-18dup	noncoding	Benign
2	178529209	AT	A	T178529210C	TTN	NM_001267550.2(TTN):c.106541del:p.Asp35514fs	coding	Pathogenic
2	178531619	A	AGGGTGAGGACTCCACTCGTGTT	T178531644G	TTN	NM_001267550.2(TTN):c.104974_104995dup:p.Leu34999fs	coding	Pathogenic
2	178534953	A	AT	C178534956T	TTN;TTN-AS1	NM_001267550.2(TTN):c.101661dup:p.Leu33888fs	coding	Pathogenic
2	178535858	G	GA	G178535874A	TTN	NM_001267550.2(TTN):c.100766-10dupT	noncoding	Benign/Likely_benign
2	178538765	GT	G	T178538768C	TTN	NM_001267550.2(TTN):c.99063del:p.Lys33021fs	coding	Pathogenic/Likely_pathogenic
2	178542315	CG	C	G178542316A	TTN	NM_001267550.2(TTN):c.97440del:p.Phe32480fs	coding	Pathogenic
2	178543123	CT	C	T178543126C	TTN	NM_001267550.2(TTN):c.96849del:p.Gly32284fs	coding	Pathogenic/Likely_pathogenic
2	178545702	GA	G	A178545706T	TTN	NM_001267550.2(TTN):c.95417-10del	noncoding	Benign
2	178547177	GTTCT	G	T178547183C	TTN	NM_001267550.2(TTN):c.94344_94347del:p.Lys31448fs	coding	Pathogenic/Likely_pathogenic
2	178549055	AAT	A	T178549059C	TTN	NM_001267550.2(TTN):c.92569_92570del:p.Ile30857fs	coding	Pathogenic/Likely_pathogenic
2	178552814	TC	T	C178552815A	TTN	NM_001267550.2(TTN):c.90085del:p.Glu30029fs	coding	Pathogenic
2	178552996	ATAAT	A	A178553003T	TTN	NM_001267550.2(TTN):c.89900_89903del:p.Asn29967fs	coding	Pathogenic/Likely_pathogenic
2	178554996	C	CA	C178554998A	TTN	NM_001267550.2(TTN):c.88462dup:p.Cys29488fs	coding	Pathogenic
2	178555346	CTG	C	T178555349A	TTN	NM_001267550.2(TTN):c.88307-196_88307-195del	noncoding	Benign
2	178559023	G	GTA	A178559038T	TTN	NM_001267550.2(TTN):c.86821+274TA[8]	noncoding	Benign
2	178560322	GT	G	T178560328G	TTN	NM_001267550.2(TTN):c.85809del:p.Lys28603fs	coding	Pathogenic/Likely_pathogenic
2	178561084	C	CT	A178561088T	TTN;TTN-AS1	NM_001267550.2(TTN):c.85047dup:p.Asp28350fs	coding	Pathogenic
2	178561117	GCTCA	G	C178561120A	TTN	NM_001267550.2(TTN):c.85011_85014del:p.Glu28338fs	coding	Pathogenic
2	178562065	TA	T	A178562067T	TTN;TTN-AS1	NM_001267550.2(TTN):c.84066del:p.Lys28023fs	coding	Pathogenic
2	178562807	T	TA	T178562809A	TTN	NM_001267550.2(TTN):c.83324dup:p.Arg27776fs	coding	Pathogenic
2	178563533	AC	A	C178563535A	TTN	NM_001267550.2(TTN):c.82598del:p.Gly27533fs	coding	Pathogenic
2	178563819	T	TTACC	A178563824T	TTN	NM_001267550.2(TTN):c.82309_82312dup:p.Asn27438delinsArgTer	coding	Pathogenic/Likely_pathogenic
2	178564245	TC	T	C178564246A	TTN	NM_001267550.2(TTN):c.81886del:p.Glu27296fs	coding	Pathogenic/Likely_pathogenic
2	178565601	CT	C	T178565602C	TTN	NM_001267550.2(TTN):c.80530del:p.Ser26844fs	coding	Pathogenic/Likely_pathogenic
2	178565617	CT	C	T178565618G	TTN	NM_001267550.2(TTN):c.80514del:p.Val26839fs	coding	Pathogenic
2	178567260	TC	T	C178567261T	TTN	NM_001267550.2(TTN):c.78871del:p.Glu26291fs	coding	Pathogenic
2	178567782	CCACCATCATA	C	C178567786A	TTN	NM_001267550.2(TTN):c.78340_78349del:p.Tyr26114fs	coding	Pathogenic
2	178567884	TAGCATTC	T	C178567887A	TTN	NM_001267550.2(TTN):c.78241_78247del:p.Glu26081fs	coding	Pathogenic
2	178568033	GTTTC	G	C178568041T	TTN	NM_001267550.2(TTN):c.78095_78098del:p.Arg26032fs	coding	Pathogenic/Likely_pathogenic
2	178568482	CGAT	C	A178568484G	TTN	NM_001267550.2(TTN):c.77647_77649del:p.Ile25883del	coding	Pathogenic
2	178568485	TG	T	G178568487A	TTN	NM_001267550.2(TTN):c.77646del:p.Ile25883fs	coding	Pathogenic
2	178572286	GT	G	T178572288C	TTN	NM_001267550.2(TTN):c.73845del:p.Glu24615fs	coding	Pathogenic/Likely_pathogenic
2	178573305	G	GT	G178573313T	TTN	NM_001267550.2(TTN):c.72826dup:p.Thr24276fs	coding	Pathogenic/Likely_pathogenic
2	178574147	ATATGC	A	T178574148A	TTN	NM_001267550.2(TTN):c.71980_71984del:p.Ala23993_Ala23994insTer	coding	Pathogenic
2	178577565	TA	T	A178577575G	TTN	NM_001267550.2(TTN):c.68824+36del	noncoding	Benign
2	178578030	GC	G	C178578031T	TTN	NM_001267550.2(TTN):c.68484del:p.Lys22828fs	coding	Pathogenic/Likely_pathogenic
2	178578127	AGTCTT	A	C178578130T	TTN	NM_001267550.2(TTN):c.68383_68387del:p.Lys22795fs	coding	Pathogenic
2	178578631	GT	G	T178578635C	TTN	NM_001267550.2(TTN):c.68308del:p.Thr22770fs	coding	Pathogenic/Likely_pathogenic
2	178578650	A	AAGTT	A178578657T	TTN	NM_001267550.2(TTN):c.68286_68289dup:p.Trp22764fs	coding	Pathogenic
2	178579007	CA	C	A178579008G	TTN;TTN-AS1	NM_001267550.2(TTN):c.68022del:p.Glu22675fs	coding	Pathogenic
2	178580410	AT	A	T178580414C	TTN	NM_001267550.2(TTN):c.66968del:p.Asn22323fs	coding	Pathogenic/Likely_pathogenic
2	178581635	A	AT	C178581638T	TTN	NM_001267550.2(TTN):c.66632dup:p.Asn22211fs	coding	Pathogenic
2	178582900	CA	C	A178582903G	TTN	NM_001267550.2(TTN):c.65863+39del	noncoding	Benign
2	178584240	A	AAAC	T178584255C	TTN	NM_001267550.2(TTN):c.65275+24GTT[5]	noncoding	Benign
2	178584255	TA	T	A178584262C	TTN	NM_001267550.2(TTN):c.65275+20del	noncoding	Benign/Likely_benign
2	178584404	G	GA	C178584406A	TTN	NM_001267550.2(TTN):c.65146dup:p.Ser21716fs	coding	Pathogenic
2	178587902	GT	G	T178587903A	TTN	NM_001267550.2(TTN):c.63504del:p.Ile21168_Leu21169insTer	coding	Pathogenic
2	178588674	T	TGC	A178588677G	TTN	NM_001267550.2(TTN):c.63049_63050dup:p.Ile21018fs	coding	Pathogenic
2	178592568	CT	C	T178592569C	TTN	NM_001267550.2(TTN):c.59436del:p.Val19813fs	coding	Pathogenic
2	178593873	GA	G	A178593883T	TTN	NM_001267550.2(TTN):c.58433-7del	noncoding	Benign
2	178594148	CTTTGG	C	G178594153C	TTN	NM_001267550.2(TTN):c.58240_58244del:p.Pro19414fs	coding	Pathogenic
2	178595487	A	AT	A178595501T	TTN	NM_001267550.2(TTN):c.57847+7dup	noncoding	Benign/Likely_benign
2	178595487	A	ATT	A178595501T	TTN	NM_001267550.2(TTN):c.57847+18_57847+19dup	noncoding	Benign
2	178597832	G	GA	T178597837A	TTN	NM_001267550.2(TTN):c.57263-14dup	noncoding	Benign
2	178598672	AC	GA	A178598672G	TTN	NM_001267550.2(TTN):c.56963-19_56963-18delinsTC	coding	Benign/Likely_benign
2	178598719	T	TA	G178598728A	TTN	NM_001267550.2(TTN):c.56962+21dup	noncoding	Benign
2	178599067	GA	G	A178599072G	TTN	NM_001267550.2(TTN):c.56648-6del	noncoding	Benign
2	178599861	T	TA	G178599869A	TTN	NM_001267550.2(TTN):c.56051-12dup	noncoding	Benign
2	178601872	A	AT	A178601880T	TTN	NM_001267550.2(TTN):c.55302+3dup	noncoding	Benign
2	178602603	G	GA	G178602614A	TTN	NM_001267550.2(TTN):c.54812-14dup	noncoding	Benign
2	178603877	TA	T	A178603878T	TTN	NM_001267550.2(TTN):c.54809del:p.Ile18270fs	coding	Pathogenic
2	178604316	GA	G	A178604321C	TTN	NM_001267550.2(TTN):c.54382-12del	noncoding	Benign
2	178604457	CT	C	T178604464A	TTN	NM_001267550.2(TTN):c.54382-153del	noncoding	Benign
2	178605258	TC	T	C178605260T	TTN	NM_001267550.2(TTN):c.53918del:p.Gly17973fs	coding	Pathogenic
2	178607856	A	ACCCGAAG	T178607864C	TTN	NM_001267550.2(TTN):c.52924_52930dup:p.Val17644fs	coding	Pathogenic/Likely_pathogenic
2	178609393	CCCTT	C	C178609399T	TTN	NM_001267550.2(TTN):c.51913_51916del:p.Lys17305fs	coding	Pathogenic/Likely_pathogenic
2	178612605	AT	A	T178612616A	TTN	NM_001267550.2(TTN):c.49949-30del	noncoding	Benign
2	178614391	A	AT	A178614400T	TTN	NM_001267550.2(TTN):c.49049-51dup	coding	Benign
2	178614870	TC	T	C178614872T	TTN	NM_001267550.2(TTN):c.48736del:p.Glu16246fs	coding	Pathogenic
2	178616709	AT	A	T178616710A	TTN	NM_001267550.2(TTN):c.48160+19del	noncoding	Benign/Likely_benign
2	178617582	CAATT	C	A178617584T	TTN	NM_001267550.2(TTN):c.47573-74_47573-71del	noncoding	Benign
2	178617620	CTAAG	C	G178617624A	TTN	NM_001267550.2(TTN):c.47573-112_47573-109del	noncoding	Benign
2	178619017	TTTG	T	T178619028G	TTN	NM_001267550.2(TTN):c.46697-176CAA[3]	noncoding	Benign
2	178619861	GA	G	A178619862G	TTN	NM_001267550.2(TTN):c.46455del:p.Pro15486fs	coding	Pathogenic
2	178621452	A	AT	A178621455T	TTN	NM_001267550.2(TTN):c.45349+21dup	noncoding	Benign
2	178622587	C	CT	C178622598T	TTN	NM_001267550.2(TTN):c.44913+73dup	noncoding	Benign
2	178625408	T	TA	G178625416A	TTN	NM_001267550.2(TTN):c.44425-13dup	noncoding	Benign
2	178630221	G	GA	T178630227A	TTN	NM_001267550.2(TTN):c.44281+19dup	noncoding	Benign
2	178632421	GAA	G	A178632428G	TTN	NM_001267550.2(TTN):c.43481-10_43481-9del	noncoding	Benign
2	178637146	GATATATATATATATATATATATATATATATAT	G	A178637159C	TTN	NM_001267550.2(TTN):c.40927+179AT[6]	noncoding	Benign
2	178637146	GATATATATATATATAT	G	A178637175C	TTN	NM_001267550.2(TTN):c.40927+179AT[14]	noncoding	Benign
2	178637146	GATATAT	G	A178637185C	TTN	NM_001267550.2(TTN):c.40927+179AT[19]	noncoding	Benign
2	178637146	GAT	G	A178637189C	TTN	NM_001267550.2(TTN):c.40927+179AT[21]	noncoding	Benign
2	178640646	AT	A	T178640652C	TTN	NM_001267550.2(TTN):c.40634-17del	noncoding	Benign
2	178646105	TA	T	A178646106T	TTN	NM_001267550.2(TTN):c.40298-76del	noncoding	Benign
2	178646543	C	CT	C178646548T	TTN	NM_001267550.2(TTN):c.40238dup:p.Tyr13414fs	coding	Pathogenic
2	178647478	AT	A	T178647482G	TTN	NM_001267550.2(TTN):c.40058-15del	noncoding	Benign
2	178654184	TAGC	T	C178654187A	TTN	NM_001267550.2(TTN):c.38380+21_38380+23del	noncoding	Benign
2	178666918	A	AT	A178666927T	TTN	NM_001267550.2(TTN):c.35798-18dup	noncoding	Benign
2	178666918	AT	A	T178666926A	TTN	NM_001267550.2(TTN):c.35798-18del	noncoding	Benign
2	178667528	TA	T	A178667532G	TTN	NM_001267550.2(TTN):c.35630-4del	noncoding	Benign
2	178672721	GT	G	T178672725A	TTN	NM_001267550.2(TTN):c.34787-19del	noncoding	Benign
2	178674413	TA	T	A178674418G	TTN	NM_001267550.2(TTN):c.34613-5del	noncoding	Benign
2	178675359	C	CT	G178675372T	TTN	NM_001267550.2(TTN):c.34538-258dup	noncoding	Benign
2	178675359	CT	C	T178675371G	TTN	NM_001267550.2(TTN):c.34538-247del	noncoding	Benign
2	178677335	C	CATATATAT	G178677362A	TTN	NM_001267550.2(TTN):c.34292-74AT[17]	noncoding	Benign
2	178677335	C	CATAT	G178677362A	TTN	NM_001267550.2(TTN):c.34292-74AT[15]	noncoding	Benign
2	178677335	C	CAT	G178677362A	TTN	NM_001267550.2(TTN):c.34292-74AT[14]	noncoding	Benign
2	178681645	G	GT	C178681653T	TTN	NM_001267550.2(TTN):c.33172+15dup	noncoding	Benign
2	178681645	GT	G	T178681652C	TTN	NM_001267550.2(TTN):c.33172+15del	noncoding	Benign/Likely_benign
2	178683968	A	AT	A178683985T	TTN	NM_001267550.2(TTN):c.32806+15dup	noncoding	Benign
2	178683968	AT	A	T178683984A	TTN	NM_001267550.2(TTN):c.32806+30del	noncoding	Benign
2	178684389	GT	G	T178684390A	TTN	NM_001267550.2(TTN):c.32662del:p.Thr10888fs	coding	Pathogenic
2	178693692	T	TA	T178693700A	TTN	NM_001267550.2(TTN):c.31514-10dup	noncoding	Benign
2	178698916	T	AAAAAAAAAA	T178698916A	TTN	NM_001267550.2(TTN):c.30683-2delinsTTTTTTTTTT	noncoding	Benign
2	178698932	GAAA	G	A178698939G	TTN	NM_001267550.2(TTN):c.30683-21_30683-19del	noncoding	Benign/Likely_benign
2	178698932	GA	G	A178698941G	TTN	NM_001267550.2(TTN):c.30683-19del	noncoding	Benign
2	178701364	C	CT	A178701376T	TTN	NM_001267550.2(TTN):c.30598+153dup	noncoding	Benign
2	178706957	GA	G	A178706963C	TTN	NM_001267550.2(TTN):c.29042-4del	noncoding	Benign
2	178706957	G	GA	C178706964A	TTN	NM_001267550.2(TTN):c.29042-4dup	noncoding	Benign
2	178707508	CT	C	T178707512G	TTN	NM_001267550.2(TTN):c.29041+17del	noncoding	Benign
2	178714137	CT	A	C178714137A	TTN	NM_001267550.2(TTN):c.26520_26521delinsT:p.Lys8840fs	coding	Pathogenic
2	178715274	GA	G	A178715280G	TTN	NM_001267550.2(TTN):c.25922-11del	noncoding	Benign
2	178717820	AG	A	G178717821T	TTN	NM_001267550.2(TTN):c.25064-11del	noncoding	Benign
2	178719548	A	ACT	A178719552T	TTN	NM_001267550.2(TTN):c.23938+4_23938+5dup	noncoding	Benign
2	178724753	TG	T	G178724754T	TTN	NM_001267550.2(TTN):c.20837-216del	noncoding	Benign
2	178729568	TA	T	A178729571G	TTN	NM_001267550.2(TTN):c.18590-3del	noncoding	Benign/Likely_benign
2	178730850	G	GT	A178730862T	TTN	NM_001267550.2(TTN):c.17740+64dup	noncoding	Benign
2	178730850	GT	G	T178730861A	TTN	NM_001267550.2(TTN):c.17741-59del	noncoding	Benign
2	178732425	G	GA	C178732430A	TTN	NM_001267550.2(TTN):c.16621+14dup	noncoding	Benign
2	178734171	G	GAA	G178734175A	TTN	NM_001267550.2(TTN):c.15496+154_15496+155dup	noncoding	Benign
2	178736086	AT	A	T178736091C	TTN	NM_001267550.2(TTN):c.14372-13del	noncoding	Benign
2	178739120	AT	A	T178739124A	TTN	NM_001267550.2(TTN):c.14092+20del	noncoding	Benign/Likely_benign
2	178741931	GA	G	A178741936T	TTN	NM_001267550.2(TTN):c.11312-11del	noncoding	Benign
2	178747082	A	ATATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG	T178747120G	TTN	NM_133379.5(TTN):c.15285_15317dup:p.5058TLERYSTPPGE[6]	coding	Benign/Likely_benign
2	178752043	GAAA	G	A178752056C	TTN	NM_001267550.2(TTN):c.11311+1078_11311+1080del	noncoding	Benign
2	178752043	GAA	G	A178752057C	TTN	NM_001267550.2(TTN):c.11311+1079_11311+1080del	noncoding	Benign/Likely_benign
2	178752043	GA	G	A178752058C	TTN	NM_001267550.2(TTN):c.11311+1080del	noncoding	Benign/Likely_benign
2	178763934	A	AT	A178763942T	TTN	NM_001267550.2(TTN):c.10114+236dup	noncoding	Benign
2	178766630	T	TAA	C178766638A	TTN	NM_001267550.2(TTN):c.9472-20_9472-19dup	noncoding	Benign
2	178766630	T	TA	C178766638A	TTN	NM_001267550.2(TTN):c.9472-19dup	noncoding	Benign
2	178769665	AT	A	T178769671A	TTN	NM_001267550.2(TTN):c.8902+13del	noncoding	Benign
2	178781583	A	AT	C178781589T	TTN	NM_001267550.2(TTN):c.3381-325dup	noncoding	Benign
2	178782832	C	CT	G178782834T	TTN	NM_001267550.2(TTN):c.3073dup:p.Ser1025fs	coding	Pathogenic
2	178783235	ATATAT	A	T178783238G	TTN	NM_001267550.2(TTN):c.2842-176_2842-172del	noncoding	Benign
2	178790319	G	GA	T178790327A	TTN	NM_001267550.2(TTN):c.1801-211dup	noncoding	Benign
2	178795515	TA	T	A178795530T	TTN	NM_001267550.2(TTN):c.915-264del	noncoding	Benign
2	178799816	G	GA	T178799822A	TTN	NM_001267550.2(TTN):c.669+4dup	noncoding	Benign
2	178837850	A	AGG	T178837853G	CCDC141	NM_173648.4(CCDC141):c.3475-108_3475-107dup	noncoding	Benign
2	178849878	GAATT	G	A178849884T	CCDC141	NM_173648.4(CCDC141):c.3357+167_3357+170del	noncoding	Benign
2	178872469	GT	G	T178872471C	CCDC141	NM_173648.4(CCDC141):c.1900-158del	noncoding	Benign
2	178878300	T	TTTATTTTA	T178878303A	CCDC141	NM_173648.4(CCDC141):c.1720-158_1720-157insAATAAAAT	noncoding	Benign
2	178878300	T	TTTTA	T178878312A	CCDC141	NM_173648.4(CCDC141):c.1720-165TAAA[3]	noncoding	Benign
2	178885244	T	TAA	G178885259A	CCDC141	NM_173648.4(CCDC141):c.1528-166_1528-165dup	noncoding	Benign
2	178885244	T	TTAA	A178885245T	CCDC141	NM_173648.4(CCDC141):c.1528-153_1528-152insTTA	noncoding	Benign
2	178961111	TG	T	G178961113A	CCDC141	NM_173648.4(CCDC141):c.780+118del	noncoding	Benign
2	179049589	C	CT	A179049607T	CCDC141	NM_173648.4(CCDC141):c.102+234dup	noncoding	Benign
2	181539065	A	AT	A181539066T	CERKL	NM_201548.5(CERKL):c.1538+26_1538+27insA	noncoding	Benign
2	181539237	TGTAA	T	A181539240C	CERKL	NM_201548.5(CERKL):c.1389_1392del:p.Tyr464fs	coding	Pathogenic
2	181539237	T	TG	T181539239G	CERKL	NM_201548.5(CERKL):c.1392dup:p.Thr465fs	coding	Pathogenic
2	181539237	T	TGTAA	C181539244A	CERKL	NM_201548.5(CERKL):c.1389_1392dup:p.Thr465fs	coding	Pathogenic
2	181544700	C	CTGATT	T181544707G	CERKL	NM_201548.5(CERKL):c.1360_1364dup:p.Phe456fs	coding	Pathogenic
2	181544703	A	AT	A181544710T	CERKL	NM_201548.5(CERKL):c.1361dup:p.Asn454fs	coding	Pathogenic
2	181547906	G	GACACACACACAC	A181547916C	CERKL	NM_201548.5(CERKL):c.1134-67GT[10]	noncoding	Benign
2	181547906	G	GACACACACACACAC	A181547916C	CERKL	NM_201548.5(CERKL):c.1134-67GT[11]	noncoding	Benign
2	181547906	G	GACACACACACACACAC	A181547916C	CERKL	NM_201548.5(CERKL):c.1134-67GT[12]	noncoding	Benign
2	181548577	TA	T	A181548582T	CERKL	NM_201548.5(CERKL):c.1100del:p.Leu367fs	coding	Pathogenic
2	181548712	ATC	A	T181548717C	CERKL	NM_201548.5(CERKL):c.1039_1040del:p.Asp347fs	coding	Pathogenic
2	181548791	G	GAGAACCCA	A181548801G	CERKL	NM_201548.5(CERKL):c.954_961dup:p.Ser321fs	coding	Pathogenic
2	181549679	GAA	G	A181549680G	CERKL	NM_201548.5(CERKL):c.848_849del:p.Leu283fs	coding	Pathogenic
2	181549695	T	TATTG	C181549697T	CERKL	NM_201548.5(CERKL):c.833_834insCAAT:p.Leu279fs	coding	Pathogenic
2	181558627	CA	C	A181558628T	CERKL	NM_201548.5(CERKL):c.758del:p.Met253fs	coding	Pathogenic
2	181558641	TC	AT	T181558641A	CERKL	NM_201548.5(CERKL):c.744_745delinsAT:p.Lys249Ter	coding	Pathogenic
2	181565495	TG	T	G181565497T	CERKL	NM_201548.5(CERKL):c.677+562del	coding	Pathogenic
2	181566126	TA	T	A181566133C	CERKL	NM_201548.5(CERKL):c.614-6del	noncoding	Benign
2	181573839	TG	T	G181573844T	CERKL	NM_201548.5(CERKL):c.526del:p.Gln176fs	coding	Pathogenic
2	181573859	TA	T	A181573861T	CERKL	NM_201548.5(CERKL):c.506del:p.Ser168_Leu169insTer	coding	Pathogenic
2	181573872	CTGTT	C	T181573875G	CERKL	NM_201548.5(CERKL):c.490_493del:p.Asn164fs	coding	Pathogenic
2	181603916	CTTTAG	C	G181603921T	CERKL	NM_201548.5(CERKL):c.397_401del:p.Leu133fs	coding	Pathogenic
2	181603950	AAG	A	A181603953T	CERKL	NM_201548.5(CERKL):c.366_367del:p.Phe123fs	coding	Pathogenic/Likely_pathogenic
2	181604005	GT	G	T181604008C	CERKL	NM_201548.5(CERKL):c.312del:p.Lys104fs	coding	Pathogenic
2	181656755	GGCCGGGCACTCACCC	G	A181656763G	CERKL	NM_201548.5(CERKL):c.237_238+13del	noncoding	Pathogenic/Likely_pathogenic
2	181656806	TGCTC	T	G181656815A	CERKL	NM_201548.5(CERKL):c.197_200del:p.Arg66fs	coding	Pathogenic
2	181656836	GTCCC	G	T181656841G	CERKL	NM_201548.5(CERKL):c.167_170del:p.Arg56fs	coding	Pathogenic
2	181656850	C	CA	G181656851A	CERKL	NM_201548.5(CERKL):c.156_157insT:p.Glu53Ter	coding	Pathogenic
2	181656968	C	CA	G181656970A	CERKL	NM_201548.5(CERKL):c.38dup:p.Glu14fs	coding	Pathogenic
2	182168293	GA	G	A182168305G	PDE1A	NM_001363871.4(PDE1A):c.1516+17598del	noncoding	Benign
2	182201650	C	CAAAAAA	C182201664A	PDE1A	NM_001363871.4(PDE1A):c.1004+32_1004+37dup	noncoding	Benign
2	182201650	C	CAAAAA	C182201664A	PDE1A	NM_001363871.4(PDE1A):c.1004+33_1004+37dup	noncoding	Benign
2	182201650	C	CAAA	C182201664A	PDE1A	NM_001363871.4(PDE1A):c.1004+35_1004+37dup	noncoding	Benign
2	182201650	C	CAA	C182201664A	PDE1A	NM_001363871.4(PDE1A):c.1004+36_1004+37dup	noncoding	Benign
2	182201650	C	CA	C182201664A	PDE1A	NM_001363871.4(PDE1A):c.1004+37dup	noncoding	Benign
2	182229780	CT	C	T182229793G	PDE1A	NM_001363871.4(PDE1A):c.675+225del	noncoding	Benign
2	182229781	T	TTC	T182229783C	PDE1A	NM_001363871.4(PDE1A):c.675+224_675+225insAG	noncoding	Benign
2	182264421	C	CA	G182264428A	PDE1A	NM_001363871.4(PDE1A):c.54-8dup	noncoding	Benign
2	188984860	TC	T	C188984861T	COL3A1	NM_000090.4(COL3A1):c.181del:p.Leu61fs	coding	Pathogenic
2	188985226	TCAAGGCCC	T	C188985232G	COL3A1	NM_000090.4(COL3A1):c.318_325del:p.Pro107fs	coding	Pathogenic
2	188985738	G	GC	T188985745C	COL3A1	NM_000090.4(COL3A1):c.413dup:p.Gly139fs	coding	Pathogenic
2	188987355	T	TA	C188987367A	COL3A1	NM_000090.4(COL3A1):c.528+227dup	noncoding	Benign
2	188988082	G	GC	A188988089C	COL3A1	NM_000090.4(COL3A1):c.536dup:p.Gly180fs	coding	Pathogenic
2	188989406	GACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGTAAGTTTTTAAAACTTAAATAAGAATACAGCAAAATTTAACTTGGTGTATTCTAAACAGTATATGCTTTATGTCAGAATCCCAGAAGAAAAAAAAATGTTATTCAAAATATTGTTGTCTTAACAACATTTTAGTTAATACTAATTTTTGAGTAGCTATACAGTATTTGCGTTTCTATATATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATGCCTTCTACCAAGAAAGCTGATCTCAACTATACATTTTGTGGAACCATTTTAATGAGTCCTTTGTGAGAAAAATGCAAAGTAACCATTTTGCTTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTATTATGTAATTCAATGGAATTAAACTTAAAAACAGAAAGTGTTTTACTACTAGATTGTGATTCTATTTGAAGGTTCATTAATATTTTTTCATTCATTATTTTTAGGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGTAAGTAGAGTTTCTAAGTTGTTTACAAGGTATTCCACTGGGCTATGTTTACTTGCCTAACCAATTTTACTGGACAATTATGTGCCAAAAAATATGATTCTGACAATTAATTAATTTGATATTTTTAAGTCTACTAAGTTTGTTTGTTGACCAAACTAGTCATTTTTTGCAAAATAAAGGAGTTGATTTCTAGTGTATAAAGTACTCTTGAAAAATATCGTTTTCTTACTACCACTATCAGAAAAATAAAAACATTTTGTGAATTATGTTTTTTATTGACTTAATATGATTTATAGATTGAGTTGAACAACTTTATTCTATGCAAAATATTTCGTACATTCAACCAACTGTGCCTACAACCTATCAACTGAATTATAATAAAATCTATGAAACTCATGTTTGCTACTCTATAGTTAAGGCAACTTTCTTATCAGACTAAATTGCACTTTCTAGTTTTCATGTTTTCCTGTTGTAAAATCAGTATGAAATATCTTCAACCCCTTTAAACAAGTTTTAAATTATTTAAGCTAATTTTGCAAGTAGTGTTATGAAGACCAATTAGAAAAATACCATGTAAACTTTATCAATCATTCTAGATTATTAACAGATTTTAATAATTTTGCTGGTTTTATACATTTCCTAGGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGTAAATCACAACAAAAATCATATTTTCATAAGTAAATTCATTAAATATTAAAGCTACATATAAGATTCATATTGTGAGCCTTAACTTGTTTTCTGAAATTTACCTGAATTTTACCTATTAGGTGTGAATAATGGTAACCAATTCAGATATTCTATTAACGCTTCCATGAAAAATGACAACTTGAAGAGTCTAGATTAGAAATAGTTGAGCATCTTAGTATAACTTATCAATTACTTCACTTTAGTCTTTAAGTTTTTAAATACAGAAATTGAGATTTCTGGTAAATAAAATACTAACAGAAAATTAATATTGTTAAAATGTATATCTTTTTCTAGGCTCTATAAACTTTTCCATAATATTCTGTATTTAAAAATATATAATATTTTCTTCCTCTTTTGTAAAATAGTAACATATTTTATATGTATCTAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGTTTTATTATTAACCTCATTGTTACCTAAAACTGGCTTTGCTCCCACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTACAGCCTCAGTAAAGTTTCAGGCTGTAAAAATATGTTAGGAAAAAGACCTTCCTACAAAATTATACTCAATGATACTGTGATAAAGTTTTGGCTATAGTTAAAAGGAAATGAATAATTGTTTTACAATTATTATCTCTATTGAGAATTTTTGTGTTAACTTTTCATATGTCATTTGAGCCATTATATCTGCATTCAGTCCTGAAAACACAGACTCCAATCCTTCTACATTTGATTGTTGCTGTATATATCAGAATTGTAATAATTGACTTTAAAATACATAATTATTAAGCAGATTTTAATGTACTTGAAGAAAACTCAACTCACTTGAGTCAGAATTTTGGTCAAAATATTACTCATGACCAGCCATTCAGAATTAAAAGGATATTTGATGTAAACTTCTCTTTTTAGGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCAGTAAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAAAGCATTAGATTGCTTCTTGCAACTGATTTTTTTAATCAGTCAAATGGATAGCTTTTATCTATACATGTCTTTAAAGCCCTATTCTTGATTCTAAAAGAGGTGTTGTCCCTAGTATTCAACTATCTTGATATTTCTTCTGCTACCTTCTTTTTTTCCCCAGACTCTTTCTAGGAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGCCTTTACGATTAATGATTCCTTGCTTTACCTGCAGTATAGAGTCCCACTACTCCAACTTTTGGGAGATGTGTTTAAACAGGACTGAAGGGTGAAGTGGCTAAGTGAGTAGAAGTGGTAAGAGAAACTGACTACACAAGGTTTTACCATTAGGGTGAAGTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACAAAGAGGAGAACCTGGACCTCAGGGACACGCTGGTGCTCAAGGTCCTCCTGTAAGTATCATAGTTGAGAGGGAGTAAGCATAGTTTCATGCTTACTCCATGAAAGCATAGTTTCATGCTTACTCCATGAAAGCATGTGCTTCAATATGGCTATCAGTGAAAATTACTTTGAAAAAATTGTTGCTTAGTGCTCTAAAATGATCCTCCTGTGACACATACTGATTTGATTAGTAGTAAAAATGATAGTTTTTGACTGTTGCACTATTCCAGAATTCATGATTTTTTATGTTTATATAAAAGAATAGAGGATAGACTAGTTTTCTGATGCTTTCAAGAATGTGCCCCAAGCTAATCACCAATCATAAAAATTCAGAGAAGAACCAAATTCAAAATCTCTTCTATTTATGTATCATTTAATAATTTATACGAAGTACATATTATCTCTAATTTATTTAGATAATGATGATTCTTTTGACCACATTTCATATGTTGTGTTATAGTTGGAGGATTCACTTAATCTCTACAAAGCATAACACTCATCGATACATTTATTTTCACACAAACAACTTCAAATATATACGAACTATTTGCATTACTATTAATACATTATCTGTTTTTTGTATACTTAGGGCCCTCCTGGGATTAATGGTAGTCCTGGTGGTAAAGGCGAAATGGTAAGCTGTCCCCACTCCTCAGCCTTATCTCATCCACACATTACTGGCTTCTTTTGCATTTTGCATGACAATAGATTTGTGATATTTAAGTGAGATATTCATAAAAGAACATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACTGAAAGGTATAGTTTAATTCCATCAACAAAAAATTAATAGCAAAATTTTGCTCCTGTTCAGTTGAATTTATATTGACTTCACTCTTGTCTTATAACTTATAACTGAATTATGTGTTACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATTAGAAAGTAAACAGGTAAAAACTTTGAACTAAATTCAGTCATAATTTCTTTATTTTACCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCGAAGATGGCAAGGATGGATCACCTGGAGAACCTGGTGCAAATGGGCTTCCAGGAGCTGCAGGAGAAAGGGTACGTTTTCCATGGGGCATCTAAAAGAAAAGCAGCATCACTGTCATCTAAATAAAACTACCTTCAGGGTGAGACAGCCAATTTTTCTTAAGTTGAGTGTTCAGTGAAAATATTGTTTAAAGCATTCTATGACATAAAAATATTTGCCACTCAAGAATTATGAAAAAGAATTGAAATCCTTTGGACTGAAATACTTGTCTTTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCAGGAGAAAAGGTAGATAACTTTAGTTTCTATGTTCCTAAATGCTAGCACCACAAATGGGCAGTTCTTGTATACAATTTCTCATTCATGAAAACCTAAATATCTGAAGAATATATATTAGAGTTAAGAAAAATTCCTAATATAATGCATCCTCTGTTCAACAACTTTCCTGGCTTTGTAACTAAAGCCACTTACTTACCCTCTATGAGAATCCTTTACTTATCTGTTAATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAAGGCTATTTTAATTTTTTTAAAATTTCTTTCACTACTTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAATCTGAGGCTTCACATGTAAGTGAAAATATCAAAATCATACAAATAGTGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTATATGTTGGCCTATCCTTGAGTGTGTGTGTGTGTGTGTGTGTATATATATATATGTATATGTATATCTATATATATACACACAC	G	C188989409A	COL3A1	NM_000090.4(COL3A1):c.650_1663-83del	coding	Pathogenic
2	188990312	CA	C	A188990315G	COL3A1	NM_000090.4(COL3A1):c.753del:p.Gly252fs	coding	Pathogenic
2	188992321	G	GTA	G188992333A	COL3A1	NM_000090.4(COL3A1):c.996+94TA[6]	noncoding	Benign
2	188993364	G	GA	G188993367A	COL3A1	NM_000090.4(COL3A1):c.1056dup:p.Val353fs	coding	Pathogenic
2	188994708	CTT	C	T188994719C	COL3A1	NM_000090.4(COL3A1):c.1348-5_1348-4del	noncoding	Benign/Likely_benign
2	188995727	A	AG	C188995731G	COL3A1	NM_000090.4(COL3A1):c.1548dup:p.Pro517fs	coding	Pathogenic
2	188996249	AGT	A	G188996270A	COL3A1	NM_000090.4(COL3A1):c.1662+72GT[10]	noncoding	Benign
2	188996249	AGTGT	A	G188996268A	COL3A1	NM_000090.4(COL3A1):c.1662+72GT[9]	noncoding	Benign
2	188996268	G	GTA	G188996270A	COL3A1	NM_000090.4(COL3A1):c.1662+91_1662+92insAT	noncoding	Benign
2	188996280	ATATG	A	G188996284A	COL3A1	NM_000090.4(COL3A1):c.1662+106_1662+109del	noncoding	Benign
2	188996282	ATG	A	G188996284A	COL3A1	NM_000090.4(COL3A1):c.1662+106_1662+107del	noncoding	Benign
2	188996286	ATATGTATATC	A	G188996290A	COL3A1	NM_000090.4(COL3A1):c.1663-108_1663-99del	noncoding	Benign
2	188996292	ATATC	A	C188996296A	COL3A1	NM_000090.4(COL3A1):c.1663-102_1663-99del	noncoding	Benign
2	188996303	T	TACACACACAC	T188996305C	COL3A1	NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACACA	noncoding	Benign
2	188996303	T	TACAC	T188996305C	COL3A1	NM_000090.4(COL3A1):c.1663-94_1663-93insCACA	noncoding	Benign
2	188996305	T	TAC	T188996329C	COL3A1	NM_000090.4(COL3A1):c.1663-92AC[12]	noncoding	Benign
2	188996434	GGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATATTTGACTGGAAGGCTTTTATTTTCCATATGGAGTAAAGAAATGGTCAAAACTCAGTCTCCTCTTCAAAGCATGGAGGAGTATATGAAAATCAAATTGCATGTAGGAAGGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAATATGTATGTGTGTGTGTGTATATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACAATAATATGATTAGTTATTGCCCTTTGAGGATTAGTAAATACCGACCACTTCTTCTTTAGGGTGCTCCTGGTAAGAATGGAGAACGAGGTGGCCCTGGAGGACCTGGCCCTCAGGTACGTAGCTTTCCTCAATTTATTTCTAGCCTTCTAATAGATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGTGTCACTGGATTTTGAGTGGCACAACGTTTCTACCCCTACAAGACCACTGGAACTTTTTTTTAATATCTTGCAGAAACATGTGTACATATGAGAAGCTTTTCTATAAGCCATGTTTGAGGTAATTACCTAATACAAATATGATTCTTTCTAGGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACCTGGGGAACCAGTAAGTTACGTTTCATTATTCAAAACTCAGAAACAAAAAGAATACACACTGTTTGTTTGTCAACTATTAACTTCTTAATTTTCTTATGCCATGATATTTGAGATTTAACATTTAGTTTTGAAATATTATCAAAACAAAGACAAATTATTTAAAAGATAACTATTATATAGAGTTTGAATTTTACCATAAAATAGAGAGTTCATAGTTTCAAGATTTGAAAAATTATACAGTATGCCAACATGACAAATGTGTATTTTGCTTATATTTACATATTTGCTTATATTTACATATTTGCTTATATTTACATAAAATGCACTCTGATATGGGCCTAATCATATAATGCCAATCTCCCAGGGTCCAAAGGGTGATGCCGGTGCACCTGGAGCTCCAGGAGGCAAGGTAGTATTTCAATTTATTCTCTACCTTCTTCAGCAGGTTATAGAGCAATTGATTAGTAGTATATTTTTAGTATATCAAGCCAAAATACTCTTTCTTTAAAAGAGCATCATTGCAAATGTTTGGTAAGTACACTTAGAGAAACTCAAGACACTTTCAATACATTAAATTTGCTTTAATCTGGAAGGTCCAATTCTCTGACATTCATAATCACTACAGAATCAAATACGGGCTTAAAATTTCAAACGGAAAAATATTGCCAATATGTTGATTCTATGTAGGAAAACTGTTTTGGTAAAAAGAACTTTAAAATGTTGCTCTTGTGAATAAAATAATAAGTATTTCAATGACAGCTCACACTTAACCAGACTAAGTATCCAAGTTTTATTTTAGACACTCTTTTAAGCTTCTAGTTCCCACCCAGCTGTTCAACTATTTTTAAGTATACAAATTTCTAGATTGTTCACAATATAATAACCTAGTGGCCTGATTCAAAATGATGCAAGTTAAGGTGCTTTGTTTTTAGCTTTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGTTTAAAAAATGCATTTGATTTCCTTCTGATCATTTATTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAATTGTTCAATAAATCAGTCATTGTAGGTTTTAAAAAAAGCAACACTCCTGGAAAGTAATCGACTGTATTTTCAAAATTAATGTTATCATTTTATAGTAAGTGAAATTTAAGATGGATTCCTAAAGCAACAATGAATTAGAACACCCAATATATATCCCTACAAATCCTGAGAGTTACTCCTCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACAGTCCTGCACTTCAACTTTAATTTTTTCCAAAAACTACTCAAGAGAAATTAGATATTTTACCACCTAAAGACCCGAATGACTTGATTTATAATGAAATTTGTGGTCTATATCTATGGCTACTTGATAGATCTACAGTGACTAAAGAATGAAAAAGCCTCAAGAGTACGATAAAGGTCACAAACTAGCATTTGTGAGTCACTAAAATCTGAGATAATCACTGAAATTTAGGATAATCAATGCTGCTCATTAAGAAACTAAAAGTCATCAAAATTCAATATAGTAAGTACTCCTCATTAATAGACTTAATATTTAAAAATTGTATAGTATTTAGCAACAAAAAGGAATGAACAATTGATGCTGTACACACAGCAAATTATACAAACCTCAAGGACAACATACTCAGTGAAGAAAATTCAGTCACCAAGGGATACATACTGCATGATTCCATTCCTACAATATTTGCAAAATAACTTCCTTGTAGAGATGTAGAACAGATTAGTGGTTGCTAGCAGTTAAGAATGAGAAAGAGAGAGATGGATGTGGCTATGGAGACATGACACAAGGGAGTCTTATGGTGATTGCACATTTGAGTATCTTGATTGAGGTGGTAGTCAGGCACATCTACACATGGGATAAAATTCTATAGAGCTACATATACACACACATAAATGAGTGTGTGTATCACTGGTGAAATCTGAACATGCTCTATGGATGGTATCAATGTCAATTTCCTAGTTTTGATATTATATTATAGTTGTGTAAGATGTTAACATTAGGGGACGCTGGGAGAAAAGTGCACAGAATTTCCCTGTATATTCCTTTGCAGCATCCTATGAATCTATAATTCAAACTAAAAGTCAAAAACAAAACAAAAAACATCTCCTAAATATGATTATAATTAAGTCTTTTAATAAATTTATATAATAGTTGCCTTAAAGAAATTCATAAATGCTTCGCTTTTGACAGACTAAGTAGATAAGCCGTCATTCAGGTAAAAAGAGTGCTCAATACTTCAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTTTAAAAAGTATGTTATCTAGTTTATTAGGTATCTATGTCTATATACTTTCTGTTTGATTAATGCAAAAAACGATATTTGTATCTTCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGATATTATCTTCAAAAACCATATAAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTA	G	G188996436T	COL3A1	NM_000090.4(COL3A1):c.1701_2392-342del	coding	Pathogenic
2	188996667	ATG	A	G188996675A	COL3A1	NM_000090.4(COL3A1):c.1761+172TG[3]	noncoding	Benign
2	188997374	AC	A	C188997379A	COL3A1	NM_000090.4(COL3A1):c.1859del:p.Pro620fs	coding	Pathogenic
2	189000729	CGCTGGGAGAAAAGTGCACAGAATTTCCCTGTATATTCCTTTGCAGCATCCTATGAATCTATAATTCAAACTAAAAGTCAAAAACAAAACAAAAAACATCTCCTAAATATGATTATAATTAAGTCTTTTAATAAATTTATATAATAGTTGCCTTAAAGAAATTCATAAATGCTTCGCTTTTGACAGACTAAGTAGATAAGCCGTCATTCAGGTAAAAAGAGTGCTCAATACTTCAGTTTTGTAATATAAGTAAAACTACTATTTGAAAATTTCAAGTTGAAAAATTTAATATGTACAATGAGACTTTGAGAAAACATTTAAATTATCAAGCAATTGAATAAAGAAATGTACTTTAATTTAAAAAGACATTACTGTAAGATCTTACATGACATCCTATTTATCTTCTACAATGGAGATAAAGATAAATGAATCAATAAACTATTGCTGAATCCTATTTTCTCCCAGAGTTATCCCCAAAGAGGCTTGTGTTTACTGAGCTCTGCAGTATTTACACATTGAGAGAAAAGCATAGCATTCAAGCCATAAAAATTTTTAAAAAGTATGTTATCTAGTTTATTAGGTATCTATGTCTATATACTTTCTGTTTGATTAATGCAAAAAACGATATTTGTATCTTCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGATATTATCTTCAAAAACCATATAAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTTTGTAAATTCTTCCATTATAAGATGGTACTAATTAAAATTTTCTCTTAAATCCGGTCTTTCTCAAAAAAATTTACTGGTGCTGATTTTCAAATGTTTAATCCTTAGAGACACTTCCTCCCTCCCTAATGGCAAATAATGCACAGTTTATGCTTTCTTGGTCATGTTCTTTGATCATGAAAATATTTTGATTGGCTTCATTTTGTCATGTCTTCAGAAAGCCTTGTTTTTAAATTTTATTTCAACTCCTTCCATCTGAAGAATTCTATATTCTGAAGAGAAATAATAATAAGCCAATTGTATCATAAAGAGTGTCAGCTGAGAGATTGCTGTTGTTGTTGCATGTAGGGACAGAATGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGAAAGGTGAAGGAGGCCCTCCTGGAGTTGCAGGACCCCCTGGAGGTTCTGGACCTGCTGTAAGTTCCTTCCTCTTTCTCTGTCTATCTATCTATCATCTATCTATCTATTGATTATCTGTCTATCTCTCCCTCTCTCTCTCCCTCTCCCCCCTCTGTAAGTCCTAAGTGTTCTAATGGAAAAACATGGAGGTTTATCAGTAATTTAATATTTTATACTGAGATAGCATGTCATAGTGTCAAGAATATAATCTTTATATGAATATAGTCCAAGTATGAATCTCAGCACCAGCAATCTAAAAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCATGTATGTATAGGATGAGAAACTTACACATTGCTACTTATTTCTCTAGTAAGTCTCAAATAAAATTATTTGAAGTAAGTAAAAAAAGAAAGAAAAAATGCACTTTTTATTATAAATATTCAAATTTCAAACAATTATTTGTAGGGTAACCCAGGACCCCCAGGTCCCAGCGGTTCTCCAGGCAAGGATGGGCCCCCAGGTCCTGCGGGTAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGATCGCCTGGTGCCCAGGGCCCACCAGTAAGTAACTTCATTTTTTTAAATTGATTCTACTATTTTGATTTTTATCACAAATCGATTAGAGAAAAACACTGTCACATAAAGATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGGGAAATAGTGTTAGCTTATAGATCTTGGAAAGTCTTTCATTAATGCTAGTTATCCATCCATTCAAGTCATCTTGCACTCCTGACTCTCTTTCACTAGTATTATATTCCTATAACATTCTAGTGCTTAGCATCTAAAACATTCGTTTGGTAAACAGGATAATAAAATTGCATTTTTATTAGGGCTCGTATTATGGCACTTTAAGTACTTCTTTCAACAAAATGTTATGTAATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAATTTTAAAATTCAATGAAGATTAAATAAAATAAGTTTTTTACCTGAAAATAAAGATATCTGATAACACCATTTTAATTGATTTCTTAAGTTGAAACAAAATGTTTTTCATTCCTTTGTATACAGGGTGAAAGTGGGAAACCAGGAGCTAACGGTCTCAGTGGAGAACGTGGTCCCCCTGGACCCCAGGGTCTTCCTGGTCTGGCTGGTACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACAAATCATAATTGTATACATTTATAAGGTACAATGTGATGTTTTAATATATGTATACAATGTGGAATGATTAAAGCAAACTAATTAAACTGTAGATTTCCACTAACAGTTTAGATCACTATTTCTTAAACTTTTATTTATTAGAGGTCTGTAAAGACTCTTTTTGGATATCATTTTTCTAATCACCTCTCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAGAGTGGTGACAGAGGAGAAAGTGTGAGTTCCCAAAAGCAGCATCTGTCTTGTTTGTCTATTTCCTTCAATAAAGACATTTGTAGGTAGAAGGTAGAATGTCAGATCTGCCAACCAAAATATCCACTGTCATTTGTTTTACAGTTTTAATGCTAGTTGTTCCTTAGACAAATGTGTGAATAAGTCAATACCAGAAGTACTTGGCAGTAGTCAATAAAGAATTCATTACTGAAACCCGAAATCATATTAATCAGACCAACTATCTATATGCTGGGTAAATGCAAGGCCAAGTTAACAGGGCTCTTGCCCAACTTTTCTGTCTAGATCCCCTGAGAAAGCTATAAACAGGGCTTTAGCACTTTGAAGGCAAAAACAATATTAACTTCCAATAATTGCATGCATACTATAATTCTATTATAATGAAATTATTTACTTTTGAAAACGAAATTGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAACTTTCCTTTAATGACAATGATATGGAAAGCAGTTCAGGATCTAAAAGTTCTTTGGAGCCAAGGATAGAAACATCAGTTGTTAGGGATCCATGCAATGATCAGTCCAAAATGAAAACAACCACAGAAACAAATCTCATTTCCTATCTGAAGTGTCTGTTGATGGGGGATTTTTTAGCTGATAGAAAGCCATAAAATAGATTTAATTATTATAAATTCTATTTTATTTTTCCAATA	C	G189000730T	COL3A1	NM_000090.4(COL3A1):c.2284-667_3256-44del	noncoding	Pathogenic
2	189001286	AAGTATGTTATCTAGTTTATTAGGTATCTATGTCTATATACTTTCTGTTTGATTAATGCAAAAAACGATATTTGTATCTTCAAAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAGAAAATGTCTCTCTCTTTTGGATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGATATTATCTTCAAAAACCATATAAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTTTGTAAATTCTTCCATTATAAGATGGTACTAATTAAAATTTTCTCTTAAATCCGGTCTTTCTCAAAAAAATTTACTGGTGCTGATTTTCAAATGTTTAATCCTTAGAGACACTTCCTCCCTCCCTAATGGCAAATAATGCACAGTTTATGCTTTCTTGGTCATGTTCTTTGATCATGAAAATATTTTGATTGGCTTCATTTTGTCATGTCTTCAGAAAGCCTTGTTTTTAAATTTTATTTCAACTCCTTCCATCTGAAGAATTCTATATTCTGAAGAGAAATAATAATAAGCCAATTGTATCATAAAGAGTGTCAGCTGAGAGATTGCTGTTGTTGTTGCATGTAGGGACAGAATGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGAAAGGTGAAGGAGGCCCTCCTGGAGTTGCAGGACCCCCTGGAGGTTCTGGACCTGCTGTAAGTTCCTTCCTCTTTCTCTGTCTATCTATCTATCATCTATCTATCTATTGATTATCTGTCTATCTCTCCCTCTCTCTCTCCCTCTCCCCCCTCTGTAAGTCCTAAGTGTTCTAATGGAAAAACATGGAGGTTTATCAGTAATTTAATATTTTATACTGAGATAGCATGTCATAGTGTCAAGAATATAATCTTTATATGAATATAGTCCAAGTATGAATCTCAGCACCAGCAATCTAAAAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCATGTATGTATAGGATGAGAAACTTACACATTGCTACTTATTTCTCTAGTAAGTCTCAAATAAAATTATTTGAAGTAAGTAAAAAAAGAAAGAAAAAATGCACTTTTTATTATAAATATTCAAATTTCAAACAATTATTTGTAGGGTAACCCAGGACCCCCAGGTCCCAGCGGTTCTCCAGGCAAGGATGGGCCCCCAGGTCCTGCGGGTAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGATCGCCTGGTGCCCAGGGCCCACCAGTAAGTAACTTCATTTTTTTAAATTGATTCTACTATTTTGATTTTTATCACAAATCGATTAGAGAAAAACACTGTCACATAAAGATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGGGAAATAGTGTTAGCTTATAGATCTTGGAAAGTCTTTCATTAATGCTAGTTATCCATCCATTCAAGTCATCTTGCACTCCTGACTCTCTTTCACTAGTATTATATTCCTATAACATTCTAGTGCTTAGCATCTAAAACATTCGTTTGGTAAACAGGATAATAAAATTGCATTTTTATTAGGGCTCGTATTATGGCACTTTAAGTACTTCTTTCAACAAAATGTTATGTAATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAATTTTAAAATTCAATGAAGATTAAATAAAATAAGTTTTTTACCTGAAAATAAAGATATCTGATAACACCATTTTAATTGATTTCTTAAGTTGAAACAAAATGTTTTTCATTCCTTTGTATACAGGGTGAAAGTGGGAAACCAGGAGCTAACGGTCTCAGTGGAGAACGTGGTCCCCCTGGACCCCAGGGTCTTCCTGGTCTGGCTGGTACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACAAATCATAATTGTATACATTTATAAGGTACAATGTGATGTTTTAATATATGTATACAATGTGGAATGATTAAAGCAAACTAATTAAACTGTAGATTTCCACTAACAGTTTAGATCACTATTTCTTAAACTTTTATTTATTAGAGGTCTGTAAAGACTCTTTTTGGATATCATTTTTCTAATCACCTCTCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAGAGTGGTGACAGAGGAGAAAGTGTGAGTTCCCAAAAGCAGCATCTGTCTTGTTTGTCTATTTCCTTCAATAAAGACATTTGTAGGTAGAAGGTAGAATGTCAGATCTGCCAACCAAAATATCCACTGTCATTTGTTTTACAGTTTTAATGCTAGTTGTTCCTTAGACAAATGTGTGAATAAGTCAATACCAGAAGTACTTGGCAGTAGTCAATAAAGAATTCATTACTGAAACCCGAAATCATATTAATCAGACCAACTATCTATATGCTGGGTAAATGCAAGGCCAAGTTAACAGGGCTCTTGCCCAACTTTTCTGTCTAGATCCCCTGAGAAAGCTATAAACAGGGCTTTAGCACTTTGAAGGCAAAAACAATATTAACTTCCAATAATTGCATGCATACTATAATTCTATTATAATGAAATTATTTACTTTTGAAAACGAAATTGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAACTTTCCTTTAATGACAATGATATGGAAAGCAGTTCAGGATCTAAAAGTTCTTTGGAGCCAAGGATAGAAACATCAGTTGTTAGGGATCCATGCAATGATCAGTCCAAAATGAAAACAACCACAGAAACAAATCTCATTTCCTATCTGAAGTGTCTGTTGATGGGGGATTTTTTAGCTGATAGAAAGCCATAAAATAGATTTAATTATTATAAATTCTATTTTATTTTTCCAATATGTATGTGTGTATATGACTTCAATTCAAAATATGTTTCTAAAGGGTCCTCAAGGCCCACGTGGTGACAAAGGTGAAACAGGTGAACGTGGAGCTGCTGGCATCAAAGGACATCGAGGATTCCCTGGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCATTTTGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATTAAGAGAAGAAAGCTTTCCATCTCTAAAAATATGTACTAGAAGAGATGAGAAATGGATTTGAAGGCTAATTTGAAACAACAATCAGCATGACACAATGGGAAGATTAAAGAAAGAAAAAAAATTTCATCATGATCCCCATGTTTCTTGATCTGATCTTGAATGTACAGTTTCCCAGTGCTTTTTAAGGCCTTCACTCCTATGTACACTTCCTTTCTTTCCAGGGCCCTGCTGGTCAGCAGGGTGCAATCGGCAGTCCAGGACCTGCAGGCCCCAGAGTAAGTAGCACAGAAAGATATTACAGGTCCACATGTTTCAGATGTCTGCATTTCAGAAAGATATTCTGGCATTGTGATGTCATGATACTTTCTTAGGGACCTGTTGGACCCAGTGGACCTCCTGGCAAAGATGGAACCAGTGGACATCCAGGTCCCATTGGACCACC	A	T189001289G	COL3A1	NM_000090.4(COL3A1):c.2284-108_3490del	noncoding	Pathogenic
2	189001501	GATGCAAGACAGTGACATGGCTTCTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGTAAGTGTTAAAGACATTCTCAACATACTTTTTAACCCCATACAGACAGTAGCTACTTATGCTTCCCTTTTTGGCAGTTTTGCCCTCAGTTCCCTGAGCCTCAATTTGGAGATATTATCTTCAAAAACCATATAAGGAACCATATAGCATGCAAGGGAATGTTAAATTTCTTAAATCTAACATTCACAGGAGACCATTTTAAATCAGGATTTCTTTCCTAAATAACTTTGGAAAAAATACATGAATTGCACAAGTAGTACATGTTTGTAATTAGGTATTTCTTAAGCCTATAGAATCTTTGCCTGAGACTCCTTCTAGATTTAAAAGTCTTGACCTTCAGGATTTAAGACTCTGGAAAGATATTTAGTAAATGGTTTTTAAAAATAAATCAGTTAATTTTTCAGTTAAGCTTCTACCATATATTGAAATACATAAATATCTATATATATAAATGTGTTAAATACTTTAAAATTCTCAAACTATTTTTCTTGCAAATAATATCACAGTAGGAGGCAGAAGGAATCAATGGTTCTGGTATTTTCCACTCCTAATTTTATTGAGAAGTGGCAAAGTCTTCAGAAGTTTATTGGCTACTCTGCACATTTCCTGCTTAAAGGAAAGAAAAGATAAGATGATAAGATGACATTTCCTGCCTAAAGGAGATGACGCACACTTCACTGTGACTAAGGAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAGCCCAGGATCTCTATCTTGCTGAAAAATTACAAAAGTATAGTCAAGTTTGGTTTCTAGTCTCATTTTAGCTGCTCATTCCCTATAGGATTATTGTACCCCTATTTTGTTTTACTTTACCCCTATTGTCGCTCTTTGAAAGATGGAAATAAAAACACCTGTCCTGCTTTTATGACTGGGTAATGAACTAAAGCAGTATCATGGATTTAAAAGCACTCTGAATTTTTGTAAATTCTTCCATTATAAGATGGTACTAATTAAAATTTTCTCTTAAATCCGGTCTTTCTCAAAAAAATTTACTGGTGCTGATTTTCAAATGTTTAATCCTTAGAGACACTTCCTCCCTCCCTAATGGCAAATAATGCACAGTTTATGCTTTCTTGGTCATGTTCTTTGATCATGAAAATATTTTGATTGGCTTCATTTTGTCATGTCTTCAGAAAGCCTTGTTTTTAAATTTTATTTCAACTCCTTCCATCTGAAGAATTCTATATTCTGAAGAGAAATAATAATAAGCCAATTGTATCATAAAGAGTGTCAGCTGAGAGATTGCTGTTGTTGTTGCATGTAGGGACAGAATGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGAAAGGTGAAGGAGGCCCTCCTGGAGTTGCAGGACCCCCTGGAGGTTCTGGACCTGCTGTAAGTTCCTTCCTCTTTCTCTGTCTATCTATCTATCATCTATCTATCTATTGATTATCTGTCTATCTCTCCCTCTCTCTCTCCCTCTCCCCCCTCTGTAAGTCCTAAGTGTTCTAATGGAAAAACATGGAGGTTTATCAGTAATTTAATATTTTATACTGAGATAGCATGTCATAGTGTCAAGAATATAATCTTTATATGAATATAGTCCAAGTATGAATCTCAGCACCAGCAATCTAAAAGTTATTTTAACCTCTTCATAGAGTTCCTGGTTTTCAAAGGCTTAATGCTTTTCCCAAATTTTGATTTTGGTGCTATTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGCATTAATTGATATCAACCTGTATAAAAGCTGCATTTGAGACACTAGTTCCATAAAGAGAATGTAAAAATTGTAATCGCTCATTCATACATGAGTTATATGTAAATTCCAAGGGGAAACACAAACCATAAATGACTTTCAGGTACAATGCAGATCATGCCACACATTATACTTTTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCATGTATGTATAGGATGAGAAACTTACACATTGCTACTTATTTCTCTAGTAAGTCTCAAATAAAATTATTTGAAGTAAGTAAAAAAAGAAAGAAAAAATGCACTTTTTATTATAAATATTCAAATTTCAAACAATTATTTGTAGGGTAACCCAGGACCCCCAGGTCCCAGCGGTTCTCCAGGCAAGGATGGGCCCCCAGGTCCTGCGGGTAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGATCGCCTGGTGCCCAGGGCCCACCAGTAAGTAACTTCATTTTTTTAAATTGATTCTACTATTTTGATTTTTATCACAAATCGATTAGAGAAAAACACTGTCACATAAAGATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTCCTTCCTTTGGTAGCCTTCAGAGATCACTTAACCATATCAAGGATGAAAAGTTTTTCTGTCACTGGAGTAAATTAGCCAGGAGATAATTTTTTTTTATTTTTAGATTTTTAAAAGCATAAATTTTAATAAATGGCTCCAGAACACAAAACAGGGCATATCATAGACAAACCTTGAATATAAACACAAATAAATTAATATGATGAAAACAATATTGCCATCTCAAACACCTCTTTTAGGAAACTTGTGAATATTCTTCAATTTGTTGACTGTCAGTTTTGAAGGGGGAAATAGTGTTAGCTTATAGATCTTGGAAAGTCTTTCATTAATGCTAGTTATCCATCCATTCAAGTCATCTTGCACTCCTGACTCTCTTTCACTAGTATTATATTCCTATAACATTCTAGTGCTTAGCATCTAAAACATTCGTTTGGTAAACAGGATAATAAAATTGCATTTTTATTAGGGCTCGTATTATGGCACTTTAAGTACTTCTTTCAACAAAATGTTATGTAATATTGTCATAAAATTAATATTTCATATTTAAGTGTGTTCAATTGATATGATATTTCTGGTAAGTGTATATTCTTCAGATAGAGACAAATAACCTAATTTTAAGGATCACCATACACCTCTAGTTTCATGATGGCTCATTATTGTTTTTCCCTATACTAATCATGTTTATGTATTCATCTCAGATTACAATGTACAGTATTCTGAATTAGATAATCAATGTAACTATTCAGCCCTTTGCCATCCAGAGTCACTGAGCAAGTTAGAAAATGCAAGAAGCTTGCTCCCCCATATTTTTTCCCATAGCAGGCATAGTTTTAATTTTAAAATTCAATGAAGATTAAATAAAATAAGTTTTTTACCTGAAAATAAAGATATCTGATAACACCATTTTAATTGATTTCTTAAGTTGAAACAAAATGTTTTTCATTCCTTTGTATACAGGGTGAAAGTGGGAAACCAGGAGCTAACGGTCTCAGTGGAGAACGTGGTCCCCCTGGACCCCAGGGTCTTCCTGGTCTGGCTGGTACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGAATTTGATAATTTATTTCAGCAAAGGTGAAATTGAGCTTTAATGTCTAAGAGTGTAAATATGGCCACATAGCAAAGTTCTTCTATCTCTAATAACAGAAATTCTTTCATTACAATTTAGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACAAATCATAATTGTATACATTTATAAGGTACAATGTGATGTTTTAATATATGTATACAATGTGGAATGATTAAAGCAAACTAATTAAACTGTAGATTTCCACTAACAGTTTAGATCACTATTTCTTAAACTTTTATTTATTAGAGGTCTGTAAAGACTCTTTTTGGATATCATTTTTCTAATCACCTCTCCTCC	G	C189001505A	COL3A1	NM_000090.4(COL3A1):c.2338-31_3040-194del	noncoding	Pathogenic
2	189005371	G	GCTAA	G189005377T	COL3A1	NM_000090.4(COL3A1):c.2955_2958dup:p.Gly987Ter	coding	Pathogenic
2	189007096	AATAT	A	A189007137T	COL3A1	NM_000090.4(COL3A1):c.3255+107AT[20]	noncoding	Benign
2	189007096	AATATATATATATAT	A	A189007127T	COL3A1	NM_000090.4(COL3A1):c.3255+107AT[15]	noncoding	Benign
2	189007096	AATATATATATATATATATATATATAT	A	A189007115T	COL3A1	NM_000090.4(COL3A1):c.3255+107AT[9]	noncoding	Benign
2	189007161	TGATAGATAGATAGATAGATAGATAGATA	T	T189007184A	COL3A1	NM_000090.4(COL3A1):c.3255+172GATA[5]	noncoding	Benign
2	189007161	TGATAGATAGATA	T	T189007200A	COL3A1	NM_000090.4(COL3A1):c.3255+172GATA[9]	noncoding	Benign
2	189007161	TGATAGATA	T	T189007204A	COL3A1	NM_000090.4(COL3A1):c.3255+172GATA[10]	noncoding	Benign
2	189007161	TGATA	T	T189007208A	COL3A1	NM_000090.4(COL3A1):c.3255+172GATA[11]	noncoding	Benign
2	189007532	AAC	A	C189007534G	COL3A1	NM_000090.4(COL3A1):c.3290_3291del:p.Thr1097fs	coding	Pathogenic
2	189008076	C	CA	G189008078A	COL3A1	NM_000090.4(COL3A1):c.3460dup:p.Ser1154fs	coding	Pathogenic
2	189009085	CA	C	A189009087C	COL3A1	NM_000090.4(COL3A1):c.3689del:p.Asn1230fs	coding	Pathogenic
2	189010329	C	CGTTTG	A189010341T	COL3A1	NM_000090.4(COL3A1):c.3982_3986dup:p.Glu1330fs	coding	Pathogenic
2	189036525	TA	T	A189036532T	COL5A2	NM_000393.5(COL5A2):c.4113+90del	noncoding	Benign
2	189045250	C	CA	T189045259A	COL5A2	NM_000393.5(COL5A2):c.3310-19dup	noncoding	Benign
2	189045340	ATG	A	T189045363C	COL5A2	NM_000393.5(COL5A2):c.3310-132CA[11]	noncoding	Benign
2	189049046	A	AG	A189049050G	COL5A2	NM_000393.5(COL5A2):c.3147+298dup	noncoding	Benign
2	189049049	G	GA	G189049053A	COL5A2	NM_000393.5(COL5A2):c.3147+295dup	noncoding	Benign
2	189050280	CTCCGGGA	C	C189050283T	COL5A2	NM_000393.5(COL5A2):c.3039+282_3039+288del	noncoding	Benign
2	189051642	CAAAAG	C	G189051647C	COL5A2	NM_000393.5(COL5A2):c.2770-166_2770-162del	noncoding	Benign
2	189057290	GA	G	A189057311G	COL5A2	NM_000393.5(COL5A2):c.2337+29del	noncoding	Benign
2	189057290	G	GA	G189057312A	COL5A2	NM_000393.5(COL5A2):c.2337+9dup	noncoding	Benign
2	189057292	A	AG	A189057293G	COL5A2	NM_000393.5(COL5A2):c.2337+27_2337+28insC	noncoding	Benign
2	189058904	A	AT	A189058917T	COL5A2	NM_000393.5(COL5A2):c.2086-23dup	noncoding	Benign/Likely_benign
2	189061499	T	TTTTAAAAAAAAAAAGCATTTTAGTTAATGGAAGATGAAATGGAAAACCGAATTAGTGCATACCTGAAAACCTGTGGGGCCTGGAGGTCCTTGTTCTCCTCTTTCACCAGCTAGACCCTAAGTTGTGAAGGAGAAAATAATTGTGAATATAACCAGATCTTTGTCTGCTTCCTCTCTACGTGAACCACTAGAAGTACTGATATTTATTTGTATTTCTTCCAATCACATGTTTTTCTCTTTAGCCAGGTAATAAACTAGTATTAATAGTAACCAAATGGTATTGTTTGAAGTCTCTGGAGGTGAGAAAATATCTTCTAAAGCCAGTAACTGATAACATGTATTTATTTTTTGATCCAAACTTAAATGTCTGGAGCCAATTGTAAACTTATGGGGAAATTGGATTGAATATAGGAAAACCCATTACTTTTGTATATGTAATCTAAAAACATAATATTTTTATTATAGTTTATTTCTGAATGTCTTAAGAATTATTTATCAAGACTTCAAAAACAGAATGACTAAAGAAAGCAAAGCTAACATTTTAGAAAGATTTAAACTGCCCCACCCCCCCAAAAAAATATGCCAAAATATTTCGGATAAACACTTCATTTGAAAGTCCTAAAATGAAAATAGACCTCAAAGAATAAGTATTATTCCTTTTATGTCCTAAAAAATACCTTAAATAATTTTTTTTTTTTTTTTGGAGATGGAGTCTTGCTCTGCCACCCAGGCTGGAGTGCAACGGTGTAATTTTGGTTCACTACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAATAGCTAGGATTACAGGCACATGCCACCATGCCAGGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACCTACCCTGGCCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTTACATAAATTTTTATAAGATGCATTATTGAGAGAAGGTAAATAATTGAGTATCTAAATATTTTAAATAAAATATTTTATAAAATATTTGTTACACACTGTTTTCTTCAGTTGATATAGTCCTTAACTGTGACATATAAAAACCTTTGCAGTCAGAGTTTTACAGAAGTTTAAAGTAAAAAGATCAATCATTATATTTAAAAAGGCAGAAGACATTATCTCACAGAAATCAAAAGAGAAGGTATAACAGAAATTCTTCATTCCCATACATTCTTATTCACTTTCCCTGAAACTTACCCATAAGTCTTGAACAAACATCATCGAAAAAATGCAATGTGTGTATATATATATTCTCACACACACACACACAAAAATCACATACCGGCGGGCCCACAGGACCAGAAGGACCAACTTCACCATCTTTTCCAGGAGCTCCCTAGTATCACACACAGATATTTGTGAGGTGAGTCTATGATAATTTAAATAGTACCTACATTATTTTTCTTTAGCAGAAAATGTATATTTACCCTCTGCCCAGGAACTCCAGCATTTCCTGCTTCTCCAGGTTTCCCAGGGTCACCCTAAAGAATAAATGAAACTTTTGTATAATTCCTTCAATTTGTCAAAAACATACCTCCTCCAAATGAGGATCATGATGAGGTGGCCAACATATTATACACTGTACTCACACTGCTACCTTTGGGGCCTGGAAGGCCCATGCTCCCGGGCTGCCCTCTGATTCCTATGGAGCCTGGAGGACCTGGACGGCCATCTTCCCCTGGCGCACCCTATAGAATTGACAGGAGCCATGTAAGTTTCATGTAAGTTGTTTCTAAACATAGCATCACCCAAAGTGTCACCTTTGCTTACTATCATGTTACATAAATTTTAAATTATCTTGCATTTTCATGTTAAAGAATCAGGACAGTTGAATGGGTTTTTTAAAAAACACTGAAGTATTTTAAGTAACTAGAAGAGAGATTTTATTCTTATTCTAGATATGAGCTTCCTCATGATGTCTCCTGACAGTCATATTAATAGGGGAAATCTTTCTTCTTTCATTTACTCTGGTTTGTGGTAATGAAAATTCAGGACTTCTATTTCACATTGCAGAACAAGGGAAGATCTTAGAATATATAAGTTGTCAAAATTCATACCTACTTATCTCTTAAACATATAAAATTAGAAGGATATAAAAATGAGAACATTGCTAATAGACAAATTTCACCAACATTAAAAACTATATCATTTTAACATTTTCACTGATGTCAGGCAGGGAAGCAATTCAATCTCAAATATTTATCTTAGTAAAAATTTGATCTACATTTTTGTCAACTTGAAAATAGATCCTAAGAATATGCTTCCAGAAGTTGGTACAAATATGTCAATATGACCAGCATCCATATAATCAAAAACATTAACCTAAATAAATATCATTTAAGTTGCATGTCTGTTGAAAAATATTAGTGGTTGTGGACTTCTGTTTAAATTACTTACCAAAGGTCCAAGTTTTCCTTCAGGACCTTGAACACCAGGATTTCCTGTCAAACCCTGAAAATAAAAAACCAACTGTCAGTTTGTTGCTGATATGCAGTTGAAGTAAAGATTCTTAAGAGTAAAAATAGTGTTGCATTTTTGTCAACTGAATAGAATGACATTTCTGTAAATCAAATAAATTTTTAAGTGATGTATTGTTAAAATTTTTCAGAATTTCTCTGCCAAAATTACTTTATTTGCTATATTGCTATAAAAGTATATTTACAAATATTTATAAATTCTTTACTTGCTAACAAGTTATAAAATTTGACAAACAGGATTTTTTTCTCATGCCAAGTGATAAAGCTATTAATACATACTGCTTTGAGAGAGACTAGAAGTTACCGTGTTTTCTATATATGATAAAAATAACAAACCAGTATTTTTTAAAATAATGAATTGGATCAAAACCATAAAAACAAAGAAATGTTCTAAACTGTAAAAACAAACTAAATTTAAAAACAAACAAAAACCCGACCAATGCATGCTCAGGAGCACTTCTCCCCTTTGATGTAGCAAACACTTGCTATATTCTTACCCGAGCACCTGGAAGCCCAGGTTCCCCTGGACGTCCTGGATCCCCCTGGCTTCCTTTGGGTCCTGAAGAACCTACAGGACCCCGTTCTCCTTGAGCACCCTGTACCGAGGCAAAGCAGATGCATGAAGAAAAAGAGTATAGAAAAACAAAAGCAAGCAGAAGTAAAATTATCGTTTTACAAATCAAGGCACTAATATAACATACAAATCAAGGCACTGATATAACGTATAAAATTTTGTCACCACATTCCGCCAACTAGCATCCTTCCCCCCTATGCCTCTTAATACAGGAATTACACAAGAGAGGATTGGGGTTAGGCCTGGTATTTGTATCCATCTCCTTTCTGGATCTGAGCCCATGCAGGCCATAGCTAGATCACCGTGCTGAAAAATGGCATCTTCTGGAGCACCCCCCACGTAAGTATCAACATTGACAGGGCAACCTCACCTTTGGCCCAGGTAAACCATCAGAGCCTGGAAAACCACGATTGCCAGGAGCACCCTACAAATGACCAAAATGTGATTCTTAATTGTTGTTGATATTTTTGCAATATGTAATGAATAGGTGATTTTTATTTTTAGCACTATAAAGTTTTAGGAGCCATCATCAAGCCAACATGGCTATAGATATGCATGAGAAAAATCTGACTCGATGGAAAAACTTTAAAATTTTGAAGAATATATAAGTACTGAGCCAAATAATTCCTCAAATCAAGAAATATTCTGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTATAGTGGCAAGTGCCTGTATCCCAGCTACTCAAAAGGCTGAGGCACAAGAATTTCTTGAACCTTGGACGCAGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGACAACACAGCAAGACTATGTCAGAAAAAAAAAAGGAAGAAAGGAAGGAAGGAAGCAAGGAAATATTCTAACGATTCATAGTAAAATTAAACAGAGAAAACTGATATCTAGAGATGAGAGGCATAGGTACCATCTATAGCAATTAAAATGTCAACAATGACATGCATTAGTGACATTTTTGTGAAACGCTTTGCATTCTCCAAAGCTCTAGATAAATGTGAGATTACTGTTCTTCTTTTCAGACCTGTCTCACTGTGCTCCAGTCACAGCTACCTCTTCTGGTCTTTAAAATCACCAGGTCCTTTCTGCCCTCCCAGCTTTGCATTTGCTTTTTCCTCTGCTAAGAATGTTCTTCCTTCCAAGTTTTCTACTGGCTTATCATCATCTTCAGGTCTCAGCTAAAATGCTATCTTCTCAGAGGATCCTCTTTCCTAACCACCTAATCTAACATTACAACACTGACATATATGTGTAGTTACTCTCCAATGTGTCATGTCTTTACTTAGTGTGTGTATGGCATTTTTTAAAGTGTGTACATATATTTTTATTTACCCATTGACTTGTTTATTGTTTACCTCTCCACTAAAATAAACAACTATTTACTAGTCTCCACATGAGGACTAGGACCATAGCCTTCTTGTTCACTGATATAATTCCAAGCACAGATGGCTCAAATTGGCATAGACTAGTGATTTAACCAATATTAGTTGAATGTATGAATAATGATTAGTCAGTTGGCTCTTTCTATTTGCACATAACTGTACTGAACTGTGCAGGGAACCTGCAAGCATTTCTCTTAACTGTTCTAGTTTTCCTTACTGTTCTCAGACTTACACACATAATTCCCTCACAACTGTAAGAATGTGTTGTATTATTTAAATTTACCCTTTCTCCCACTGGCCCTGGAGGACCAACTGTTCCTGGGTCACCTCTGGGACCTCTTTTGCCTTCTTCACCGGGTGGGCCTATCGGACCCTGAATACCATGTGGCCCCTGTTAAAAACAGAAGGACAGTTACCAGAAAGACCCATCCAACCAGTGAATTATAGTTGGAAGCCTAATTTAACGAAGTCAGTCACAAATTTTAAAGTATATGGAACAATGAGATATTTTCATCTCAAGCTATTATAATTCTCATTATTATTTTAAACCCTTGAGCATTTTGAGCTGTACACTTCCAGACAATACTATGTTCTACTTATCATTAAAACAATGAAACCTTACTGGTTCCCCTTTTGGGCCAGCTTCTCCTTTGAAACCTGGAACTCCTGGATCACCCTGAAAAAAATATATTGATATTTGTAAGAACCAGGACATTTAGCTAGTCCAATCTGCTCAAATTAGTTACAATAAATAGGCTTTAAAAATTCTCTCCAGCTGAGTCGGTTTTGCATCAGTAGTATAATATAATCATTTTTAAATGAATGCATGTGAATATGTTAATATGTGTAAATTTTTATAAAATTCAGTATAATTTGGAAGCCATTTAATTTATAGTGGTCTTTAAGAGATTTATTTTTAAAATCATGTTTTTTATCATGTGTAGTAGAATAAATAGAATTATTGAGTTATTATTCAAATTTGAAAATTAAAATTGGAACTATCAATGACAATTTCTATAGATAAATACATTTAGGCTGTATTTTAGGATGTGAACTTGTTTACCCAGAATCAAAATAATTTTATATTTATGCCGTATTTATTGAGAATTTAGCAACTTCAAATAGGGCATTTCACTCTTGGAATGTTAGAGGGTTTTCTGTAGGTGTGTCTTTAAATACCAACTGAAATTTAAGTTGTAAGAACTGGATTGCAAAATTCAGAACTTGGTAAAATCAAATGTGACACTAGCAACACTAATGATTTAATAAATCTGTCACCAGCACTTTAAGAGAATTTATCAGCATGACCACATTACTTGGAACAGAATTGTAAATATTTATTTAAATATTTATTTTTATACATCAAGCTAAAAGCTATTAAGCACAACTTCTCAATGTGTTTATTTGTTATGGGTTCATCAAAATATTTTTTCTAATAAATAATTTCTGTAAAATATGAAAACATTCAATCTGACATTCAATCTGATTAATATATTTGAATCACTCTTTAACAATAACTCTGAAGAAATAGTTGTTGAACCCTAGCCTAATTGTCATTATAAATTCCTATTGAAGCTCCATATTCCTCACACTGGCTTGCATAATATTTTCATAATATTTATTATTCAATTATTCATAAAATTCTATGAGGTGAACCATAAAGTTATAACCTTATTATTTTAAATAAAAGAACACTAAAATTTAACATACTGCAATAATGTTCCACTTAGAATTTAAACATCTAAGTTGTACCTCAACATTTAGCTTTCACTTCACAAAGACTCCCATCTTCCCACATTTGGATAAGTCACGTTATCTATGTTTCATTGCATCACATGACATGTTATTACTCTTGGCCCTCGTAGTTAGATTACACTAAAGGATGATAGTTCTTTCAAAGGTCATTACCGGTTGGCCTCGAATTCCCTGAGGACCAGTGCTACCCTGAGGTCCTGGAGATCCAGGAGGCCCTGCTGAGCCAGGAGGACCAGAGGTACCTGGAGAGCCCTATTAAACAGCAAGAGTGATGTGGTAAGTAGAGACACAGGTAGCAGTCTGGGGCCAATGTCTAAAGAATCATGCCCATTTGAGCTTCACATGCCATAAATGCAGTACTCACCGTTGGGCCTTTGGCACCAGGAGTACCATCAGTTCCTATTGCACCCTAAAAGGTACATTAAAAGTATGTAATGAAATATTAAGCAATATATAGATACAAATGTGCTAGTATACAGATGTCCAGCCATCTTCAAAAAGGAAGTAGAAGCATTTTTTAAAAATCAACCACCATTATATCATAAAAATTACTTTTTTGACTACTTCTCCTTTACATAAAATAGGTAAAACTTACAGAGTTGACAAGGGAAATATATTTTTTCACAGTTGTAAGCACTCATTCAGAATTCAGAGAATATATTAAATTTTATATTTCAAAATAGCTAGAAAAAGAGGACTTAAAATGTTCCCAACACATAGAAGTGATATATGCTCAATGGGATGGATATCTTAAATACCCTGACTTGATTATTACACATCTTAGGCATATAACAGAACATTACAGGTACCCCCTAAATATGTACAAATATTATGTATCAATTAAAAAAATAGGTTGAATTTGTTCTGATGTTACAAGAAATGTCCAGCTTTCTGGGCTGGTTCTTAAATATGCTAGAAACTTACAGGAAGACCTGGAGAGCCAACTGGACCTGGGGGCCCAGTTTCACCTCTCTGCCCCTGAGGACCTTCAGGGCCTCGCGCCCCTGTAGGACCTGCTTCTCCCTAAAAGGGTGCAAAGGGAAATGTTAATTTAAGAAAAATACGAGAGTGGCATTGTACAAA	G189068945T	COL5A2	NM_000393.5(COL5A2):c.1159-60_2031+62dup	noncoding	Pathogenic
2	189061502	TA	T	A189061513G	COL5A2	NM_000393.5(COL5A2):c.2031+59del	noncoding	Benign
2	189078395	GA	G	A189078407G	COL5A2	NM_000393.5(COL5A2):c.1059+120del	noncoding	Benign
2	189083674	GA	G	A189083686C	COL5A2	NM_000393.5(COL5A2):c.852+309del	noncoding	Benign
2	189088559	A	AAATG	T189088580A	COL5A2	NM_000393.5(COL5A2):c.645+116CATT[6]	noncoding	Benign
2	189089043	A	ATGGAT	T189089051G	COL5A2	NM_000393.5(COL5A2):c.568-276_568-272dup	noncoding	Benign
2	189098741	GA	G	A189098742C	COL5A2	NM_000393.5(COL5A2):c.387del:p.Arg130fs	coding	Pathogenic
2	189098742	AC	A	C189098744A	COL5A2	NM_000393.5(COL5A2):c.386del:p.Gly129fs	coding	Pathogenic
2	189104082	TA	T	A189104084G	COL5A2	NM_000393.5(COL5A2):c.336+181del	noncoding	Benign
2	189580159	GGTTT	G	G189580168T	SLC40A1	NM_014585.6(SLC40A1):c.43+247AAAC[2]	noncoding	Benign
2	189805813	T	TA	G189805825A	PMS1	NM_000534.5(PMS1):c.418+70dup	noncoding	Benign
2	189818226	T	TAAAC	T189818233A	PMS1	NM_000534.5(PMS1):c.582+49_582+52dup	noncoding	Benign
2	189877397	AT	A	T189877403C	PMS1	NM_000534.5(PMS1):c.2766del:p.His923fs	coding	Pathogenic
2	190062133	GT	G	T190062136A	MSTN	NM_005259.3(MSTN):c.373+90del	noncoding	Benign
2	190212935	A	AT	A190212946T	HIBCH	NM_014362.4(HIBCH):c.1011+11dup	noncoding	Benign
2	190212935	AT	A	T190212945A	HIBCH	NM_014362.4(HIBCH):c.1011+20del	noncoding	Benign
2	190290507	T	TA	G190290519A	HIBCH	NM_014362.4(HIBCH):c.305-33dup	noncoding	Benign
2	190310913	GT	G	T190310917A	HIBCH	NM_014362.4(HIBCH):c.36-118del	noncoding	Benign
2	190900652	G	GA	T190900654A	GLS	NM_014905.5(GLS):c.695dup:p.Asp232fs	coding	Pathogenic
2	190930466	T	TG	C190930472G	GLS	NM_014905.5(GLS):c.1460dup:p.Ile488fs	coding	Pathogenic
2	190976898	CAG	C	G190976900T	STAT1	NM_007315.4(STAT1):c.1999_2000del:p.Leu667fs	coding	Pathogenic
2	190985649	TTC	T	C190985651T	STAT1	NM_007315.4(STAT1):c.1231_1232del:p.Glu411fs	coding	Pathogenic
2	190994955	TATAA	T	T190994957A	STAT1	NM_007315.4(STAT1):c.944+102_944+105del	noncoding	Benign
2	191007459	TAG	T	G191007465T	STAT1	NM_007315.4(STAT1):c.372+98CT[2]	noncoding	Benign
2	191009929	A	ACTGT	A191009935T	STAT1	NM_007315.4(STAT1):c.71_74dup:p.Ser25fs	coding	Pathogenic
2	191039310	GA	G	A191039316G	STAT4	NM_003151.4(STAT4):c.1336-14del	noncoding	Benign
2	191039310	G	GA	G191039317A	STAT4	NM_003151.4(STAT4):c.1336-19dup	noncoding	Benign
2	191076328	G	GA	C191076339A	STAT4	NM_003151.4(STAT4):c.274-13dup	noncoding	Benign
2	191146759	TA	T	A191146770G	STAT4	NM_003151.4(STAT4):c.129-3del	noncoding	Benign
2	191411068	TA	T	A191411074T	MYO1B	NM_001130158.3(MYO1B):c.2775del:p.Lys925fs	coding	Pathogenic
2	196666794	CA	C	A196666805G	CCDC150	NM_001080539.2(CCDC150):c.849del:p.Glu284fs	coding	Pathogenic
2	196666794	C	CA	G196666806A	CCDC150	NM_001080539.2(CCDC150):c.849dup:p.Glu284fs	coding	Pathogenic
2	196844449	TA	T	A196844460C	PGAP1	NM_024989.4(PGAP1):c.2337+74del	noncoding	Benign
2	196845588	T	TA	T196845604A	PGAP1	NM_024989.4(PGAP1):c.2286+279dup	noncoding	Benign
2	196847110	CA	C	A196847111G	PGAP1	NM_024989.4(PGAP1):c.2042del:p.Leu681fs	coding	Pathogenic/Likely_pathogenic
2	196847458	C	CT	A196847476T	PGAP1	NM_024989.4(PGAP1):c.1953-275dup	noncoding	Benign
2	196879988	C	CTG	C196879993T	PGAP1	NM_024989.4(PGAP1):c.1350+84CA[3]	noncoding	Benign
2	196880160	TA	T	A196880170G	PGAP1	NM_024989.4(PGAP1):c.1273-8del	noncoding	Benign
2	196880160	T	TA	G196880171A	PGAP1	NM_024989.4(PGAP1):c.1273-17dup	noncoding	Benign
2	196897118	T	TA	T196897124A	PGAP1	NM_024989.4(PGAP1):c.927+12dup	noncoding	Benign
2	196897207	AAAGT	A	A196897212G	PGAP1	NM_024989.4(PGAP1):c.861-14_861-11del	noncoding	Benign
2	196902396	T	TATTCATTC	T196902416C	PGAP1	NM_024989.4(PGAP1):c.807+173GAAT[6]	noncoding	Benign
2	197487210	TTTAA	T	A197487218G	HSPD1	NM_002156.5(HSPD1):c.1570-16_1570-13del	noncoding	Benign
2	197490411	T	TTG	T197490417G	HSPD1	NM_002156.5(HSPD1):c.870-119CA[3]	noncoding	Benign
2	197490423	G	GT	G197490434T	HSPD1	NM_002156.5(HSPD1):c.870-137dup	noncoding	Benign
2	197494543	A	ACT	G197494544C	HSPD1	NM_002156.5(HSPD1):c.606+113_606+114insAG	noncoding	Benign
2	197494591	CAGATAACTCAAACTTTTGATCATA	C	C197494604A	HSPD1	NM_002156.5(HSPD1):c.606+42_606+65del	noncoding	Benign
2	197496926	CAACT	C	C197496929G	HSPD1	NM_002156.5(HSPD1):c.427+210_427+213del	noncoding	Benign
2	197705405	C	CATGCTGCGAACGTCCGTCCTCCGCCTGCTAGGACGCACGGGGGCTAGTAGGCTGTCTCTCCTGGAGGACTTCGGCCCACGCTACTACAGTTCGGGCTCCCTCAGTGCCGGCGATGATGCTTGTGATGTGCGCGCCTACTTCACTACACCCATTTTCTACGTGAACGCGGCGCCGCACATCGGGCACCTGTACTCGGCACTACTGGCGGACGCCCTATGCCGCCACCGTCGCCTCCGAGGTCCCAGCACGGCCGCCACGCGATTCTCCACTGGTACCGACGAGCACGGGCTGAAGATTCAGCAGGCAGCAGCTACCGCGGGCCTGGCCCCGACCGAGCTGTGCGACCGAGTCTCTGAGCAGTTCCAGCAGCTTTTCCAGGAGGCCGGTATCTCCTGCACAGATTTCATCCGCACCACGGAGGCCCGGCACCGGGTGGCTGTGCAGCACTTCTGGGGGGTGCTTAAGTCCCGCGGTCTGCTCTACAAGGGCGTCTATGAAGGTTGGTATTGCGCTTCCGACGAGTGCTTCCTGCCTGAGGCCAAGGTCACCCAGCAGCCGGGCCCATCGGGGGATTCGTTTCCTGTATCTCTCGAGAGCGGGCATCCAGTCTCCTGGACCAAGGAAGAAAACTACATTTTCAGGCTTTCCCAGTTCCGGAAGCCACTCCAGCGGTGGCTGCGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCATGCCATCTATTGGCCTGCCTTCCTGTTAGGGGCCGGCATGAGCCCGCCACAGCGCATCTGTGTCCATTCCCACTGGACAGTCTGTGGCCAAAAGATGTCCAAGAGCTTGGGCAACGTGGTGGATCCTAGGACTTGCCTTAACCGCTATACCGTGGATGGCTTCCGCTACTTTCTCCTTCGGCAGGGCGTCCCCAACTGGGACTGTGACTACTATGATGAAAAGGTGGTTAAGTTGCTGAACTCCGAGCTGGCAGATGCCTTGGGAGGTCTCTTGAACCGATGCACTGCCAAAAGAATAAATCCTTCTGAGACCTACCCAGCCTTCTGCACTACCTGCTTCCCTAGTGAGCCAGGGTTGGTGGGGCCGTCAGTTCGTGCTCAGGCAGAGGATTATGCTCTGGTGAGCGCAGTGGCCACTTTGCCAAAGCAGGTAGCAGACCACTATGATAACTTTCGGATATATAAGGCTCTGGAGGCCGTGTCCAGCTGTGTCCGGCAAACTAATGGTTTTGTCCAAAGGCATGCACCATGGAAGCTGAACTGGGAGAGCCCAGTGGATGCTCCCTGGCTGGGTACTGTGCTTCATGTGGCCTTGGAATGTTTGCGAGTCTTTGGGACTTTGCTGCAGCCTGTCACCCCAAGCCTAGCTGACAAGCTGCTGTCTAGGCTGGGGGTCTCTGCCTCAGAGAGGAGTCTTGGAGAGCTCTATTTCTTGCCTCGATTCTATGGACATCCATGCCCTTTTGAAGGGAGGAGGCTGGGACCTGAAACTGGGCTTTTGTTTCCAAGACTAGACCAGTCCAGGACTTGGCTGGTGAAAGCCCACCGGACCTAG	A197707189T	MARS2	NM_138395.4(MARS2):c.2_*1dup:p.Met1_Ter594=	noncoding	Pathogenic
2	197706434	CTG	C	T197706437G	MARS2	NM_138395.4(MARS2):c.1032_1033del:p.Cys344fs	coding	Pathogenic
2	197707352	A	ATTC	A197707356T	MARS2	NM_138395.4(MARS2):c.*166_*168dup	noncoding	Benign
2	199272586	G	GTC	T199272590C	SATB2	NM_001172509.2(SATB2):c.1825_1826dup:p.Asp609fs	coding	Pathogenic
2	199308794	T	TG	C199308796G	SATB2	NM_001172509.2(SATB2):c.1705dup:p.Gln569fs	coding	Pathogenic
2	199323508	C	CACACACACATAT	T199323510C	SATB2	NM_001172509.2(SATB2):c.1542+294_1542+295insTATATGTGTGTG	noncoding	Benign
2	199323508	C	CACACACAT	T199323510C	SATB2	NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTGTG	noncoding	Benign
2	199323508	C	CACACAT	T199323510C	SATB2	NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTG	noncoding	Benign
2	199323508	C	CACAT	T199323510C	SATB2	NM_001172509.2(SATB2):c.1542+294_1542+295insTATG	noncoding	Benign
2	199328925	GA	G	A199328932C	SATB2	NM_001172509.2(SATB2):c.1174-16del	noncoding	Benign
2	199348720	AC	A	C199348721T	SATB2	NM_001172509.2(SATB2):c.1153del:p.Val385fs	coding	Pathogenic
2	199348725	TG	T	G199348726C	SATB2	NM_001172509.2(SATB2):c.1148del:p.Ala383fs	coding	Pathogenic
2	199380365	TGGGAGAGA	T	A199380369C	SATB2	NM_001172509.2(SATB2):c.588_595del:p.Leu197fs	coding	Pathogenic
2	199380406	CT	C	T199380407C	SATB2	NM_001172509.2(SATB2):c.554del:p.Glu185fs	coding	Pathogenic
2	199433394	A	ACCAGCTGG	T199433404C	SATB2	NM_001172509.2(SATB2):c.282_289dup:p.Val97fs	coding	Pathogenic
2	199455887	CG	C	G199455889C	SATB2	NM_001172509.2(SATB2):c.150del:p.Val51fs	coding	Pathogenic
2	199911716	AG	A	G199911718A	C2orf69	NM_153689.6(C2orf69):c.280del:p.Glu94fs	coding	Pathogenic
2	199911748	CTCT	C	T199911749A	C2orf69	NM_153689.6(C2orf69):c.311_313del:p.Leu104_Tyr105delinsHis	coding	Pathogenic
2	199925570	AGAAAG	A	G199925571A	C2orf69	NM_153689.6(C2orf69):c.843_847del:p.Lys282fs	coding	Pathogenic
2	199925635	CATTCTGGAGGAAGCAAT	C	T199925637C	C2orf69	NM_153689.6(C2orf69):c.909_925del:p.Ser304fs	coding	Pathogenic
2	201078995	CA	C	A201078999G	NDUFB3	NM_002491.3(NDUFB3):c.117del:p.Gly40_Leu41insTer	coding	Pathogenic
2	201085443	C	CT	C201085455T	NDUFB3	NM_002491.3(NDUFB3):c.141-5dup	noncoding	Benign
2	201085733	A	AAT	G201085746A	NDUFB3	NM_002491.3(NDUFB3):c.*119AT[7]	noncoding	Benign
2	201187686	A	AT	G201187691T	CASP10	NM_032977.4(CASP10):c.348-16dup	noncoding	Benign
2	201195542	T	TAA	G201195546A	CASP10	NM_032977.4(CASP10):c.578-298_578-297dup	noncoding	Benign
2	201209572	C	CT	C201209581T	CASP10	NM_032977.4(CASP10):c.1415+18dup	noncoding	Benign
2	201217672	GC	G	C201217676A	CASP10	NM_032977.4(CASP10):c.1504del:p.Gln502fs	coding	Pathogenic
2	201269532	TG	T	G201269535C	CASP8	NM_001372051.1(CASP8):c.306-1981del	coding	Pathogenic
2	201273058	C	CT	G201273076T	CASP8	NM_001372051.1(CASP8):c.595+133dup	noncoding	Benign
2	201273064	T	TC	T201273065C	CASP8	NM_001372051.1(CASP8):c.595+122_595+123insC	noncoding	Benign
2	201275016	C	CT	G201275031T	CASP8	NM_001372051.1(CASP8):c.660+77dup	noncoding	Benign
2	201626008	AT	A	T201626016C	TMEM237	NM_001044385.3(TMEM237):c.1159+17del	noncoding	Benign
2	201627080	GA	G	A201627093C	TMEM237	NM_001044385.3(TMEM237):c.1037+240del	noncoding	Benign
2	201629228	AC	A	C201629230T	TMEM237	NM_001044385.3(TMEM237):c.869+1del	noncoding	Pathogenic
2	201629437	TTTGA	T	G201629440A	TMEM237	NM_001044385.3(TMEM237):c.678-20_678-17del	noncoding	Benign
2	201629796	C	CATCT	G201629803C	TMEM237	NM_001044385.3(TMEM237):c.606_609dup:p.Val204fs	coding	Pathogenic
2	201629799	CTA	C	A201629801G	TMEM237	NM_001044385.3(TMEM237):c.605_606del:p.Ile202fs	coding	Pathogenic
2	201629907	AT	A	T201629918A	TMEM237	NM_001044385.3(TMEM237):c.554-56del	noncoding	Benign
2	201632130	A	AGTTT	C201632136T	TMEM237	NM_001044385.3(TMEM237):c.470_473dup:p.Thr159fs	coding	Pathogenic
2	201639057	G	GA	C201639064A	TMEM237	NM_001044385.3(TMEM237):c.80-18dup	noncoding	Benign/Likely_benign
2	201706852	A	AC	A201706857C	ALS2	NM_020919.4(ALS2):c.4573dup:p.Val1525fs	coding	Pathogenic/Likely_pathogenic
2	201707903	TC	T	C201707906A	ALS2	NM_020919.4(ALS2):c.4368del:p.Lys1457fs	coding	Pathogenic
2	201710183	A	AT	G201710191T	ALS2	NM_020919.4(ALS2):c.4123-152dup	noncoding	Benign
2	201722983	T	TA	T201722993A	ALS2	NM_020919.4(ALS2):c.3702+51dup	noncoding	Benign
2	201723134	CAA	C	A201723135G	ALS2	NM_020919.4(ALS2):c.3625-16_3625-15del	noncoding	Benign/Likely_benign
2	201723436	TC	T	C201723442T	ALS2	NM_020919.4(ALS2):c.3517delG	coding	Pathogenic
2	201723442	CT	C	T201723443G	ALS2	NM_020919.4(ALS2):c.3513-2del	coding	Pathogenic
2	201725112	C	CA	T201725130A	ALS2	NM_020919.4(ALS2):c.3347+227dup	noncoding	Benign
2	201727046	T	TA	C201727058A	ALS2	NM_020919.4(ALS2):c.2979+155dup	noncoding	Benign
2	201727303	CCAGGA	C	G201727306T	ALS2	NM_020919.4(ALS2):c.2913-30_2913-26del	noncoding	Benign
2	201728463	TA	T	A201728464G	ALS2	NM_020919.4(ALS2):c.2841+48del	noncoding	Benign/Likely_benign
2	201728834	AAAAC	A	A201728839T	ALS2	NM_020919.4(ALS2):c.2713-198_2713-195del	noncoding	Benign
2	201729056	A	AT	C201729062T	ALS2	NM_020919.4(ALS2):c.2707dup:p.Met903fs	coding	Pathogenic
2	201733451	GA	G	A201733460T	ALS2	NM_020919.4(ALS2):c.2418-14del	noncoding	Benign
2	201744241	AG	A	G201744246T	ALS2	NM_020919.4(ALS2):c.2170+16del	noncoding	Benign
2	201749794	C	CA	C201749802A	ALS2	NM_020919.4(ALS2):c.1738-6dup	noncoding	Benign
2	201754520	GT	G	T201754521G	ALS2	NM_020919.4(ALS2):c.1622del:p.His541fs	coding	Pathogenic
2	201754690	TG	T	G201754694T	ALS2	NM_020919.4(ALS2):c.1472-20del	noncoding	Benign
2	201760932	ATCTGACAG	A	C201760934T	ALS2	NM_020919.4(ALS2):c.1054_1061del:p.Leu352fs	coding	Pathogenic/Likely_pathogenic
2	201761129	CT	C	T201761131C	ALS2	NM_020919.4(ALS2):c.864del:p.Val289fs	coding	Pathogenic
2	201761667	AT	A	T201761669G	ALS2	NM_020919.4(ALS2):c.326del:p.Asn109fs	coding	Pathogenic
2	201761827	T	TA	G201761836A	ALS2	NM_020919.4(ALS2):c.176-10dup	noncoding	Benign
2	201767243	ACTC	A	T201767245A	ALS2	NM_020919.4(ALS2):c.158_160del:p.Gly53del	coding	Pathogenic
2	201769002	T	TA	G201769016A	ALS2	NM_020919.4(ALS2):c.-60-70dup	noncoding	Benign
2	202369395	GTCCTTTTCTGTGATCTTTCAAATGCTTGGGAGAAGCTGGGTTTTCCTGCTGTCAGTCACTCAGGATGGGAGGTTCTGATGGTTTTATTTTGCTCTTGAAGAAAAGGGTGACCCCAGAAGCTAGGTTAACTAAAATTTCCAAAGTTAGACGAAAAGGGAAGGAAAGAGATGAGACAATAAATCTAGGTTTCAAAAGCAAGGCTCTTTTTATTTGTTTATTATTTTTTAAAAGCTTTGTTTGTTTTAGGAAGACAGAATTAGGTTGCTTTCAGGCCCAAAGGATGTCAGGGAGGTCAACTGGATTTTCTTCTCTCCCCACAACTATACCTTGATCTTCCAAAAGGAGACAATGCCCTGTCCTGTTTCTCAGTTTAAGCCTAAAGATAAAATTCTAAAGTTTCTAAGCAGCTTTTAGTTGTTTGTTTTTCTGATCTGGAAAGGTGTCCCAGTGCTAACTTCCATATTGTTTGTCTGCTAGAGCTAAGAGTTTTTCTTCTATTTTTCTTTGATACCACCCCTTTATGATCATGAAGTTTATTCTTAGAAGTAGTCGGTATTTCTGAGCCCAGGTAATACCTACATGTCCTCATTTATTTAACAAGAAATTGGCCTTGGTCCTTATTTCAATTCTTGTTCTAATAATCTGCTTAGTGCCCCTCTGTCCCTTCTTAAAACCAGGACCAGTCCTCCAACTGAAGGCAGAGATATCATCCATGAGGGGCTATAATACATAGTGAAGATCAGTTTCGCAGATGCTGTTAGTCTGTCCTCTTGGATTTCTGTGTTGTTCTCCTTTATTTCCTGCTTCCTTACCCCTACCAGGAAAAAAATCCTACTTGTTGGGGTTTTGGTGATTAGAATATTGGGGATTATTTTACCCTTGGATACTATGTTAGTCATCAGGGCTGTTCACAAATATTCAGGTTCTCTTTCTCATGACATGGTAGGATTACATTTTCTGCCCTCTTTTTTTCTTTTTTTTTTTTGAGACTGAGTCTTGCACTGTCGCCTGGGCTGGAGTGCAGTGGCGCGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTAGGCCTCCGGAGTTGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAATTTTTTGCATTTTTAGTAGAGAAGGGGTTTCACCTGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCACTGCTCCCAGCCTCTGCCCTCTTAAAGTTAGGTTTGGCCATCTGACTTTGGTGGCCACTAAAATATGAGTGGAAGTAAAGCACACTGCTTCTAGGTGGAAGCTTTTTAATGGCTACAGCAAGACACTGCAACACTAGCAATTAAATTTTATGATCCCTACTGTCACAATTTTGAAAACATGTGTCTCAGTGAAGCCTCTACCAACCTAAGGACCTCAGTGATTAAAATGAGAGAGTCCATGCAGTGGACATTTTGCTGAGCTCCCCAGATCCACCCTTTAGGTCTAAAGCATTCTTTCTCCCAACTGCTGGAACTGCTGGTGGCTGACAGTGGTCAGCTGGGTCCCTCTCTGGGGGTAGCTGTTGGCTAAAGAGAGCCCTTTTATCAAAGGTCACGTCTGTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCATGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGTGTTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACCGGCGCCTGCCGCCACGCCCGGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTAAACCACCGCTCCAGGCCGGTCACATCTCTTTCAATATGTGCAGCCCACATCCAGTGACTGGTTGGTGTGAAGGTATAATTTTACTGGGTTTTGCCGGGCGCAGTAGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCCTGAGTTCAGGAGTTCGAGGCTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACAAGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCAATGCACTCCAGCCTGGGCTACAAGAGCGAAACTCCGTCTTTAAAAAAAAAAAAAAATTTACTGGTTTTACCCAACTTGGCTAGGCAGTCTGTCTAATGCTGGATTTCCTACTCCAAGGCAGCATTCAAGGAGCCTAAATTATCAGTATACTTGAGGGACTTTTTCCCTAGATGTACTCCACTGAAGGAATCTTGAATGAAAAGCTTGCTGGGTTTGGGGGGTCTTTTAGGTGTACCTTAAAGTGTTAGCAGACACAGATTAGGACAATGCTGAAAGGCCAGCCCAGCTCCAGAATTCCTGCAGGATTGATTGATGCCTCAGTTGCAAATGTGTTGCAATTCAACTTCTCCCTCTGCCCAGTCTTGCATCCCTCAATCCCCACAGAGGTTGCTCTTGCCATCATTAGGTAATAACCTCCTGCATACAAATTTCAGAGTTTCAGTGTCTATTTCCTGTGAACTCAAGTTGCGATGGGTCCCCTGATGACTTATATCAAACATGTAACATGTGTGAGAAATAAACCTTTATTGCAATAAGATGCTGAGATTTGGTGAATGTTACTGTAATTTAGCCCATCCTAATTAGTACAGATGCCAAACCTCACCTGCATCACCAGTCCTTTGTTCTCAGCTGAGCTTGACTTACATTGTCTGCCTTTTGTCGTGGACAGGTTTCTTGCCAAGTCTTAATTCTGTTCTTTGATGTTCTTTCTCACTGTGAGTGAACAGCCATGTCCCAACTGAAATATCACAAGAAGGAACAGAAAAGGGAAGAGGGTACATATCTAGTTGTCTACCTACCAAGTCAGCGGCATGTGTTTTTTCTTGTGAATTTCCTAAGACCTTTTCTTTATGTTCTATATAATTTATCATACATTTATAACATGTACGGTAGTCCTCCCTGCCCCTTATCCACAAGGAACTTGTTCCAAGACCTCCAGTGGATGCCTGAAACTGCAGACAGTACTGAACCCAATTGCTATAAACTGGAATACATTTCTATTATGTCTTCTACCCACAAATTTAATGCCTTTTCCATCTTAACTAAGCACTTATTACACATTGTGGCCATCACTTTTGCAGTTTGAGGTATGGCAGCAAAACTAGCATGAATTTATTTTTTCTTCACAATTCAGTTTCACAGATAGATTTTTTTTTTTTTTTTTGCCAGAGTCTCTATCGCCCGGGCTAGAGTGCAATGGGCAACCTCCACCTCCTGCGTTCAAGTGATTCTCTTGCTTCAGCCTCCGGAGTAGCTGCTGGGATTACAGGCACGTGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTATAGACGGGGTTTCACCATGTTGGCCAGGCAGGTCTTGAACTCTTGACCTCAAGTGATCCTCCTGCCTTGGTCCCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCCTGCCAAAGATTCATTGTTACCAGCAATCTTAGCAACCTCAGCCTATAATTTTTTTCCCTCCTTATTAAGTCAAGAACTCTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCCAGTGGCATGATCTCGGCTCACTGCAAGCCCCACCTCCCGGGTTCATGCCATTCATTCACTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCATCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCAAGAACTCTGACGTTTTAACTTACAGGAAGCACTTTACAGCTTCTGTATGGCTGAATTGCCAGCATCACTACTCTTGTGCTTTGGGGCCATTATTAAGTAAAACGAGGGTTAGTTGAACACAAGCACTTGGATATTGCATACTGCCACAGTCAGTCTGATAAGAGACTGCTACTAAGTGATTAAGGAGGTTATAGCGGATACACTGTACAAACCATGATTCACATCCCAGAAGGACAGTGTGGGATGGCAGCGATTTCCTCACAGCTAGTTAGTAACAGTACTCAATTTAAAATTTATGAGGCCAGGCGCAGTGGCTCACGCCTCTAATCCTATCATTTTGGGAGGCCAGAAGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAACTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGGCGGAGGTTGCTGTGAGCTGAGATCGTGCCATTGTGCTCCAGCTTGGGCAACAAAAGAGAAACTACGTCTCAAAAAAAACAAAAACAACAACAACAAAAAAAAACACCACTTATTATTTCTGGAACTTTCCATGTAATATTTTCAGACCGTGGTTGACTGCAGGTAACTGAAACGGTGGATAAGGGGGAACTACAAAAAGGACACTTAATGTTTCTTGGAAAAAATCTTAAGCAAATAAAAATTGAATGATGAAGTACTTGATCTCAATTTGAGGAAGATAAAAGTGTACTACGAATTAATAAACTTTAAACTTTCTGCACCTCTAACATACTAAAATCCAATTTCTCTGAGTGCTAGAAACTCTCAGTTCTTGAAAGACAAATGGTAAAACAATACCGTTTCTAATTTAGACCTTTTGGGCAAAACAAAATACAGTAATAAAGCTATAAAGAATCGGTCGGGGGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGTCGAGACGGGCGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCCGCCTGTAATCTCAGCTACTCGGGAGGTTCAGGCCGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGTCGAGATCGCGCCACTGCACCGCAGCCTGGTCGACAGAGCAAGACTCCGCCTCAATAAATAAATAAATAAATAAATAAAACCTAAATAAATAAAGCTAATGAATCAAAGCATATGCTCTTCGTCTTTTTAAGGGATTTTACTAGGTAGAATTTTTTTTTCTCTGTCTAAAGGGTAAACAGCATAAACATATTTCAACTAAAAAGAGTCTTAGAATCCGGGGTTGGTATTGCTACAACCCCTAATTATGGAAGATGTTTAGTATAACAGAACCAGTTTAAGGAATGTGGAGATTTATTTACATCAAATTCAGATAAAGAGGTAACAGCGGACTAGAAGAAGCAAGCAGAGCATGACTTAAGGAGTCTATCTATGACTGTATCTGTGGAACTGCCCTTAGCCACAATGAAAGACCAGCAAAACCAGCCTTCAGCATAACCCTCCTGCCTGGTAGGAGATGGGAAGGCCAGACTTCACCCCTCAAGATCGCCCTCCCACGCGCATTTTCCACCTCGCAGCTAAGAATTCAGTCCAGACTTCCGATCATGGCGCCACGCACGTCACCTTCTCCCCTCGCCGCCAGCAAAATCCCACCCACGTCGGCTGACCCCGCAGCGGGGTGTAAGGGCGGGAGGGATCCCGTCTCCTATACTGGTCGCTTGTACAAACCAGATCCAAAAAACGCACTACACAAATCCTTGGAAACTGCGGTACCAACGGGATCTTCTCAATTCCTTGAGTGCAAAATGATCCCACTCTCTATCCCGACACAACTCTAACTCCATTTTCCTTTCACGTGCCCTAAAAAGCCCTCAAGGCCCCCAGCCTTGGTGAATCCAGGCCCTCTCTCGGGGTGGGCACCGCGCTGTACGGACAGACGCGCGCACGCAGCGGGACGATTTATAGAATTAAAAGTCTTTTTTTTTTTTCTGGCTTCGCATCCTTGCAAATACTCAATATTCCTGTCAACTAAGAAGGCTAAGGGAATGGGCGGTTGAGGAAAGCAGGACGTCGATTACAGCGAACACATCAAAGGGGTGGTCTTTCCAATTCCGGCTTTTGTTTGAGTCAGAGGGGAGCCTGAGGAGGCCAAGGTCTCCGGTTCTGGGAAAGGCGGGTCCATCCGGATTCTTTGGGCTGCGGAGAGGGAGGTTCCAGCCCCGTGAAACAACAGAGGGCAGTTCTGCCCCTCGAGGCTTTCCTCCGAGAGTACTGAGACGGAGACGCCTCAGTCGGGAGAAATCCCGGAACTCGGAGGAGTCTGCTGAACGCCGAACAAAAGGATGTGGCCGTCGTCTCTTAAACAAATACGCGAATCCCAAGCCATGCACATTTGGAAGGCATGTGTATGTGTGTGAAGGAGAAAGGCCACCGCTGCCCACCGCAGCCCCACCCAGCCCTCGGCCATTCACCGGAGAGACGCGCTGCGGTGGGGCCTCGGAGCCCTCAGCCAGCCCCGAACGAGGGGCGGGGCCGGGCGGGGCCGTGAGCGCGCAGGCGCAGTGCGGGCTTCATCCCGCCGCCGGCGCCGCCGCCGCCGCCGCCCGCTCTGCACCACAGGCTAGAGACAGACAGGGCCGGGAAGAGCCGGAGACTGAGGAGGAGGCGGAGGCGGCGGCGGAGGCGGGGCGACTCCGGTGACCGGGAGCGCCGCAGACTGGCAGCTGCGGCGACTCCCCCCTTTGTGTCTGGTCTGCTCGGAGCCACTGGAAGTGCCTCCCGGAGGGACGCAGGGTGTCTCGCCGCCTCCCTGCCCACCCCCTTCCCCGGCTACCTTCATCCGCCCTCCCGCCGCCCCCCGCCCTCGGTCCGCGACGCCCGAGTTCCGTCAGGAGCCCAGAGCTGCGGGAGAACGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCGGCTTCCTCGGGGGGTTGTGATTCGCTCACAGGAGCCATTGACGGGAGAAGAGGAGGCTTTCTTGGTGGAATTTACCTCAGGCAAGATCGAGCCGCAGGAATAAAAAGCGAGGAAGGGAAGGGAGCGCCGCCGGGAGGACTAGAAGGGGCAGCCTCTCACACCCACTCCGCCTGCCGTCTCGGGGAGCCCGGACCGGGGCCGCGACCGCGACCCCTCCCCTCCCCCGCTCCTACCTCTCCTCAGCCTTCGCCAGGGCCTCCCCAACCCTCTCACGGTTGTTCTGCGAAGGCGTGGGGACTGTGAGCTTGTCCATGGAGGCAGGCACCTTTTTTGATCCAGTCAAGGAAGAGGATTTGTTGTTTTCGAAATCAGAGTGAAGGAAGCACCGAAGCGAAACTTAAGGAATCCTGCCTTCCCGGAGCCGCGGGCGATGCGACTAGGGCTGCCGGGCGCCGCCGCCGCCCGTCCGGCTTCGTCCTTCCCGGCAGTCGGGAACTAGTTCTGACCCTCGCCCCCCGACCCCGGATCGAATCCCCGCCCTCCGCACCCTGGATATGTTTTCTCCCAGACCTGGATATTTTTTTGATATCGTGAAACTACGAGGGAAATAATTTGGGGGATTTCTTCTTGGCTCCCTGCTTTCCCCACAGACATGCCTTCCGTTTGGAGGGCCGCGGCACCCCGTCCGAGGCGAAGGAACCCCCCCAGCCGCGAGGGAGAGAAATGAAGGGAATTTCTGCAGCGGCATGAAAGCTCTGCAGCTAGGTCCTCTCATCAGCCATTTGTCCTTTCAAACTGTATTGTGATACGGGCAGGATCAGTCCACGGGAGAGAAGACGAGCCTCCCGGCTGTTTCTCCGCCGGTCTACTTCCCATATTTCTTTTCTTTGCCCTCCTGATTCTTGGCTGGCCCAGGGATGACTTCCTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTGGTCAGCACTGCGGCTGGTGAGTAGCTCCGGCCGGCACGTCCCGGCCACTGCCCCTGCGGGTGGCGAGGGAGGGAGCCCGCAGAGGCCGAGGCCTGTGCTTGCCCTTCGCCATGCGTCCCCCCGATCGCGGTGCAGCGGAGCTGCGACCCGGTGCCTGCGCGCCTGCCCCATGCCTTCCAGGGAAATCGC	G	T202369396C	BMPR2	Single_allele	noncoding	Pathogenic
2	202376031	T	TGCCCACCGCA	C202376046A	BMPR2	Single_allele	noncoding	Benign
2	202376511	A	AGGC	A202376548G	BMPR2	NM_001204.7(BMPR2):c.-963GGC[13]	noncoding	Benign/Likely_benign
2	202376511	A	AGGCGGCGGC	A202376548G	BMPR2	NM_001204.7(BMPR2):c.-963GGC[15]	noncoding	Benign
2	202377256	A	AC	A202377264C	BMPR2	NM_001204.7(BMPR2):c.-212dup	noncoding	Benign/Likely_benign
2	202464864	TG	T	G202464867A	BMPR2	NM_001204.7(BMPR2):c.135del:p.Gly45_Ile46insTer	coding	Pathogenic
2	202464877	AG	A	G202464878T	BMPR2	NM_001204.7(BMPR2):c.146del:p.Ser49fs	coding	Pathogenic
2	202464920	G	GT	A202464922T	BMPR2	NM_001204.7(BMPR2):c.189dup:p.Ser64Ter	coding	Pathogenic
2	202467616	CT	C	T202467617G	BMPR2	NM_001204.7(BMPR2):c.346del:p.Cys116fs	coding	Pathogenic
2	202467639	GT	G	T202467640A	BMPR2	NM_001204.7(BMPR2):c.369del:p.Leu122_Cys123insTer	coding	Pathogenic
2	202467678	C	CA	C202467681A	BMPR2	NM_001204.7(BMPR2):c.409dup:p.Thr137fs	coding	Pathogenic
2	202513822	GT	G	T202513824G	BMPR2	NM_001204.7(BMPR2):c.524del:p.Met174_Leu175insTer	coding	Pathogenic
2	202520053	C	CT	C202520066T	BMPR2	NM_001204.7(BMPR2):c.853-22dup	noncoding	Benign
2	202520053	C	CTT	C202520066T	BMPR2	NM_001204.7(BMPR2):c.853-23_853-22dup	noncoding	Benign
2	202520129	GTAAGCTC	G	A202520131T	BMPR2	NM_001204.7(BMPR2):c.897_903del:p.Ser300fs	coding	Pathogenic
2	202520193	C	CACG	G202520198C	BMPR2	NM_001204.7(BMPR2):c.961_963dup:p.Arg321dup	coding	Pathogenic
2	202530669	CTCT	C	C202530671T	BMPR2	NM_001204.7(BMPR2):c.968-123_968-121del	noncoding	Benign
2	202530801	TA	T	A202530804C	BMPR2	NM_001204.7(BMPR2):c.978del:p.Lys326fs	coding	Pathogenic
2	202530849	GA	G	A202530854T	BMPR2	NM_001204.7(BMPR2):c.1028del:p.Asn343fs	coding	Pathogenic
2	202530849	G	GA	T202530855A	BMPR2	NM_001204.7(BMPR2):c.1028dup:p.Asn343fs	coding	Pathogenic
2	202530894	GA	G	A202530895G	BMPR2	NM_001204.7(BMPR2):c.1069del:p.Arg357fs	coding	Pathogenic
2	202530916	GT	G	T202530917G	BMPR2	NM_001204.7(BMPR2):c.1091del:p.Val364fs	coding	Pathogenic
2	202532623	AG	A	G202532625A	BMPR2	NM_001204.7(BMPR2):c.1169del:p.Gly390fs	coding	Pathogenic
2	202532630	GT	G	T202532631G	BMPR2	NM_001204.7(BMPR2):c.1175del:p.Val392fs	coding	Pathogenic
2	202532659	GA	G	A202532662C	BMPR2	NM_001204.7(BMPR2):c.1206del:p.Lys402fs	coding	Pathogenic
2	202542363	T	TC	A202542367C	BMPR2	NM_001204.7(BMPR2):c.1332dup:p.Thr445fs	coding	Pathogenic
2	202552821	A	AAT	T202552822A	BMPR2	NM_001204.7(BMPR2):c.1519_1520insAT:p.Ile507fs	coding	Pathogenic
2	202555307	TC	T	C202555309T	BMPR2	NM_001204.7(BMPR2):c.1644del:p.Ser549fs	coding	Pathogenic
2	202555406	G	GA	C202555414A	BMPR2	NM_001204.7(BMPR2):c.1748dup:p.Asn583fs	coding	Pathogenic
2	202556114	AAC	A	A202556115T	BMPR2	NM_001204.7(BMPR2):c.2450_2451del:p.Asn817fs	coding	Pathogenic
2	202556231	AC	A	C202556234G	BMPR2	NM_001204.7(BMPR2):c.2569del:p.Arg857fs	coding	Pathogenic
2	203867979	C	CCT	T203867980C	CTLA4	NM_005214.5(CTLA4):c.37_38insCT:p.Leu13fs	coding	Pathogenic
2	203868009	ACT	A	T203868013C	CTLA4	NM_005214.5(CTLA4):c.71_72del:p.Leu24fs	coding	Pathogenic
2	203955028	TTCTTGTCAGAGTAGTTTGATCAACAGGTAGACAATTCCTTCTCCCCAAGATATACCTACTAATAAATGAAGTTTTTCCTAAACTTCAACTTTTCCCATATCTCTCTGTTTAGCTAAGTGCTACTAATCCTTTAATTCCAATTTTAAAACTCACTTCCTCAAGGCGGCATTTTCTGATTCTATAATCAAAATTATAACCCACCTGACTCTACCACCTTCATTTAAATAGTACTCCATTCCTATCACAAATTATGTTGCATTACTACATATTTATTCCTTTACCATCTGCCTCCAATATGAAAGCTACCAAAGGACAGAGGCCATACCAGTTTGATTCATACACACTATGTAAATATATTATTTAATATTTAGTATATTCTATATTCACATATGACAAGCAAGTTTCTGGTTAGGATTTTTTTTTCTCTAGGACATAGTTTTATCTTATGTTCTTCCTTGAGGGGTGGAGGGAGAATGTGAAGCTGTTTCATTTTGGTGCAACAGAGATGACTTTATGCATTGAATAAATTGCTTTTATGTTAAAATATAATTATTAGGGCAACATTATAAAATGTCACTTTTGCTTTGTTTTCTTTCTTTTTATGCAGGAGAAATCAATGGTTCTGCCAATTATGAGATGTTTATATTTCACAACGGAGGTGTACAAATTTTATGCAAATATCCTGACATTGTCCAGCAATTTAAAATGCAGTTGCTGAAAGGGGGGCAAATACTCTGCGATCTCACTAAGACAAAAGGAAGTGGAAACACAGTGTCCATTAAGAGTCTGAAATTCTGCCATTCTCAGTTATCCAACAACAGTGTCTCTTTTTTTCTATACAACTTGGACCATTCTCATGCCAACTATTACTTCTGCAACCTATCAATTTTTGATCCTCCTCCTTTTAAAGTAACTCTTACAGGAGGATATTTGCATATTTATGGTAAGACATTGCTTTCATCTTCCAAACTTAAGAGTATATATATGTTTTGACAACTTTTCTCACTAATAAAATCAATTAGACAAATAAATATCTTTTGTGTTGGAGTTCACTTAGATGCAGTTGATGGTAATCATTTATAATGAAGATATACAGGTGATGATTTACTATTAATCATAATTAGTATTATTCAGCAATATGCAATGTAATCCCATAGACTGCTAAGTCAGAAATAGATCATATTGCCTTTTAAACACATATGCTATTAAAAATCAGGAAAAACATTAAGACAAATACTTAAACTTATGGCTTAATAATGGGTATTATCTCTATTCACCTAAGATTTAAGGTTTGGTTTTGCACTGTGTTTGTGGAATGAAGTATGATGATTGAAAATCATAGTTTTATAACATTACTTTTACTATTACCTCTTTTATAAAAATATAGGCAGAAAAGCCCTTTCTATTAACCACATTTGTAAATACATTATATGCATAATCTTTTAAGTTTTAGTTCCTGGATCCTTGCCATAATACTGAGATGATGTTAGTCTAATAACTTGCCCACTTACTGGATTTCATGACTATAATAAAGAAAAGCTTCATTTGATTAAATAGCTCTTTTAAATTTGGTAAGAGAACTTGTGGTTCAGCAGAATTTTTCATTAACATACCTTTTTTTCCAATCCAGAATCACAACTTTGTTGCCAGCTGAAGTTCTGGTTACCCATAGGATGTGCAGCCTTTGTTGTAGTCTGCATTTTGGGATGCATACTTATTTGTTGGCTTACAAAAAAGGTAAGCGATTTCTATCTTTCCTTGTATCTGCTTTACAGATGCACATCAGTGATTATTTCCTCATCAAAAGTACACATGGC	T	G203955042A	ICOS	NM_012092.4(ICOS):c.59-594_501+93del	noncoding	Pathogenic
2	203956642	C	CT	C203956650T	ICOS	NM_012092.4(ICOS):c.395-10dup	noncoding	Benign
2	206130345	C	CATTTT	T206130366A	NDUFS1	NM_005006.7(NDUFS1):c.1554-123AAAAT[5]	noncoding	Benign
2	206133111	T	TA	C206133123A	NDUFS1	NM_005006.7(NDUFS1):c.1393-17dup	noncoding	Benign
2	206138714	TA	T	A206138718G	NDUFS1	NM_005006.7(NDUFS1):c.1263-101del	noncoding	Benign
2	206141798	C	CAA	T206141816A	NDUFS1	NM_005006.7(NDUFS1):c.1262+126_1262+127dup	noncoding	Benign
2	206141798	C	CA	T206141816A	NDUFS1	NM_005006.7(NDUFS1):c.1262+126dup	noncoding	Benign
2	206142401	G	GA	C206142403A	NDUFS1	NM_005006.7(NDUFS1):c.1133+284dup	noncoding	Benign
2	206142748	CA	C	A206142751T	NDUFS1	NM_005006.7(NDUFS1):c.1070del:p.Leu357fs	coding	Pathogenic
2	206143846	A	ATC	A206143848C	NDUFS1	NM_005006.7(NDUFS1):c.987+171_987+172insAG	noncoding	Benign
2	206143951	C	CT	C206143952T	NDUFS1	NM_005006.7(NDUFS1):c.987+66_987+67insA	noncoding	Benign
2	206146966	A	AT	A206146968T	NDUFS1	NM_005006.7(NDUFS1):c.673dup:p.Ile225fs	coding	Pathogenic
2	206147919	CTTTAT	C	A206147923T	NDUFS1	NM_005006.7(NDUFS1):c.339-90_339-86del	noncoding	Benign
2	206149615	G	GAC	T206149619C	NDUFS1	NM_005006.7(NDUFS1):c.261+201_261+202dup	noncoding	Benign
2	206149933	TAAAAA	T	A206149954G	NDUFS1	NM_005006.7(NDUFS1):c.154-13_154-9del	noncoding	Benign
2	206150023	T	TTCTATCTATCTA	T206150055A	NDUFS1	NM_005006.7(NDUFS1):c.154-126TAGA[10]	noncoding	Benign
2	206150023	T	TTCTATCTATCTATCTA	T206150055A	NDUFS1	NM_005006.7(NDUFS1):c.154-126TAGA[11]	noncoding	Benign
2	206152703	CT	C	T206152722G	NDUFS1	NM_005006.7(NDUFS1):c.62-194del	noncoding	Benign
2	206160691	T	TA	C206160693A	EEF1B2	NM_001959.4(EEF1B2):c.185dup:p.Tyr62Ter	coding	Pathogenic
2	206767640	C	CTAGT	T206767643G	FASTKD2	NM_001136193.2(FASTKD2):c.777+172_777+173insGTTA	noncoding	Benign
2	206774408	G	GT	A206774418T	FASTKD2	NM_001136193.2(FASTKD2):c.1427+20dup	noncoding	Benign/Likely_benign
2	206789168	CAATATT	C	T206789174A	FASTKD2	NM_001136193.2(FASTKD2):c.1898+271_1898+276del	noncoding	Benign
2	206790691	G	GA	T206790699A	FASTKD2	NM_001136193.2(FASTKD2):c.2013+12dup	noncoding	Benign/Likely_benign
2	206790904	ATGT	A	G206790909C	FASTKD2	NM_001136193.2(FASTKD2):c.2013+223_2013+225del	noncoding	Benign
2	208124495	TGCTGAGCTGGTGGGGCGGCGGC	T	T208124503G	CRYGD	NM_006891.4(CRYGD):c.-44_-23del	noncoding	Benign
2	208128259	A	CT	A208128259C	CRYGC;LOC100507443	NM_020989.4(CRYGC):c.469delinsAG:p.Trp157fs	coding	Pathogenic
2	208128303	CG	C	G208128304C	CRYGC	NM_020989.4(CRYGC):c.424del:p.Arg142fs	coding	Pathogenic
2	208128304	GC	G	C208128309G	CRYGC	NM_020989.4(CRYGC):c.423del:p.Arg142fs	coding	Pathogenic
2	208128333	AC	A	C208128336A	CRYGC	NM_020989.4(CRYGC):c.394del:p.Val132fs	coding	Pathogenic
2	208145688	CA	C	A208145711G	CRYGB	NM_005210.4(CRYGB):c.252+85del	noncoding	Benign
2	208145688	C	CA	G208145712A	CRYGB	NM_005210.4(CRYGB):c.252+63dup	noncoding	Benign
2	208237393	A	ACT	A208237395T	IDH1	NM_005896.4(IDH1):c.1155-225_1155-224insGA	noncoding	Benign
2	208245282	T	TA	G208245293A	IDH1	NM_005896.4(IDH1):c.520+27dup	noncoding	Benign
2	208245546	C	CT	A208245566T	IDH1	NM_005896.4(IDH1):c.415-141dup	noncoding	Benign
2	208245546	C	CTT	A208245566T	IDH1	NM_005896.4(IDH1):c.415-141_415-140dup	noncoding	Benign
2	208245546	C	CTTT	A208245566T	IDH1	NM_005896.4(IDH1):c.415-141_415-139dup	noncoding	Benign
2	208245546	C	CTTTT	A208245566T	IDH1	NM_005896.4(IDH1):c.415-141_415-138dup	noncoding	Benign
2	208245546	CT	C	T208245565A	IDH1	NM_005896.4(IDH1):c.415-123del	noncoding	Benign
2	208336107	C	CT	G208336109T	PIKFYVE	NM_015040.4(PIKFYVE):c.4428dup:p.Val1477fs	coding	Pathogenic
2	209697053	T	TA	G209697054A	MAP2	NM_001375505.1(MAP2):c.4522+2_4522+3insA	noncoding	Benign
2	209793738	GA	G	A209793741C	UNC80	NM_001371986.1(UNC80):c.820del:p.Thr274fs	coding	Pathogenic
2	209817911	C	CGG	A209817914G	UNC80	NM_001371986.1(UNC80):c.1653_1654dup:p.Asp552fs	coding	Pathogenic
2	209842330	C	CT	C209842340T	UNC80	NM_001371986.1(UNC80):c.3358-11dup	noncoding	Benign
2	209842330	CT	C	T209842339C	UNC80	NM_001371986.1(UNC80):c.3358-11del	noncoding	Benign
2	209849640	AT	A	T209849644C	UNC80	NM_001371986.1(UNC80):c.3627+21del	noncoding	Benign
2	209872887	CG	C	G209872891A	UNC80	NM_001371986.1(UNC80):c.3761del:p.Gly1254fs	coding	Pathogenic
2	209896298	AT	A	T209896303C	UNC80	NM_001371986.1(UNC80):c.4481-10del	noncoding	Benign
2	209943532	GA	G	A209943541T	UNC80	NM_001371986.1(UNC80):c.7050+27del	noncoding	Benign
2	209943532	G	GA	T209943542A	UNC80	NM_001371986.1(UNC80):c.7050+27dup	noncoding	Benign
2	209967419	C	CATAT	T209967432A	UNC80	NM_001371986.1(UNC80):c.7806-17AT[8]	noncoding	Benign
2	209967419	C	CAT	T209967432A	UNC80	NM_001371986.1(UNC80):c.7806-17AT[7]	noncoding	Benign
2	209973280	TTCTCTC	T	C209973292G	UNC80	NM_001371986.1(UNC80):c.8587+11TC[5]	noncoding	Benign
2	209978528	G	GC	T209978531C	UNC80	NM_001371986.1(UNC80):c.8940dup:p.Tyr2981fs	noncoding	Pathogenic
2	209992200	AACCTCCT	A	A209992201T	UNC80	NM_001371986.1(UNC80):c.9350_9356del:p.Asn3117fs	coding	Pathogenic
2	210298339	TAC	T	A210298366T	MYL1	NM_079420.3(MYL1):c.304+53GT[13]	noncoding	Benign
2	210298339	T	TACACACACAC	T210298368A	MYL1	NM_079420.3(MYL1):c.304+53GT[19]	noncoding	Benign
2	210298339	T	TACACACAC	T210298368A	MYL1	NM_079420.3(MYL1):c.304+53GT[18]	noncoding	Benign
2	210298339	T	TACACAC	T210298368A	MYL1	NM_079420.3(MYL1):c.304+53GT[17]	noncoding	Benign
2	210298339	T	TAC	T210298368A	MYL1	NM_079420.3(MYL1):c.304+53GT[15]	noncoding	Benign
2	210303457	T	TC	T210303458C	MYL1	NM_079420.3(MYL1):c.133-943_133-942insG	noncoding	Benign
2	210315041	A	AT	A210315053T	MYL1	NM_079420.3(MYL1):c.1dup:p.Met1fs	coding	Benign
2	210315350	T	TC	A210315360C	MYL1	Single_allele	noncoding	Benign
2	210576452	CTGGGACT	C	G210576454A	CPS1	NM_001875.5(CPS1):c.345_351del:p.Gly116fs	coding	Pathogenic
2	210577274	A	AT	G210577288T	CPS1	NM_001875.5(CPS1):c.382-134dup	noncoding	Benign
2	210577418	TAGGTTTC	T	C210577425G	CPS1	NC_000002.11:g.211442143_211442149del	noncoding	Pathogenic
2	210579699	A	AT	C210579707T	CPS1	NM_001875.5(CPS1):c.472-8dup	noncoding	Benign
2	210582713	AG	A	G210582717T	CPS1	NM_001875.5(CPS1):c.621+8del	noncoding	Benign
2	210587874	TAC	T	C210587876G	CPS1	NM_001875.5(CPS1):c.622-182_622-181del	noncoding	Benign
2	210592902	CT	C	T210592904C	CPS1	NM_001875.5(CPS1):c.1112del:p.Phe371fs	coding	Pathogenic
2	210599433	TG	T	G210599436C	CPS1	NM_001875.5(CPS1):c.1424del:p.Gly475fs	coding	Pathogenic
2	210599518	TG	T	G210599521T	CPS1	NM_001875.5(CPS1):c.1509del:p.Gly503_Leu504insTer	coding	Pathogenic
2	210602268	C	CT	G210602270T	CPS1	NM_001875.5(CPS1):c.1775dup:p.Gly594fs	coding	Pathogenic/Likely_pathogenic
2	210606913	AGCTCT	A	C210606920G	CPS1	NM_001875.5(CPS1):c.2171_2175del:p.Ala724fs	coding	Pathogenic
2	210611971	C	CT	A210611985T	CPS1	NM_001875.5(CPS1):c.2392-133dup	noncoding	Benign
2	210611971	C	CTT	A210611985T	CPS1	NM_001875.5(CPS1):c.2392-134_2392-133dup	noncoding	Benign
2	210611971	CT	C	T210611984A	CPS1	NM_001875.5(CPS1):c.2392-133del	noncoding	Benign
2	210612126	A	AT	G210612129T	CPS1	NM_001875.5(CPS1):c.2403dup:p.Gly802fs	coding	Pathogenic
2	210612132	C	CG	T210612134G	CPS1	NM_001875.5(CPS1):c.2408dup:p.Thr804fs	coding	Pathogenic
2	210612170	GT	G	T210612171G	CPS1	NM_001875.5(CPS1):c.2446del:p.Cys816fs	coding	Pathogenic
2	210612193	TCACTCCCCGTCTC	T	A210612195C	CPS1	NM_001875.5(CPS1):c.2470_2482del:p.Thr824fs	coding	Pathogenic
2	210637810	GT	G	T210637812A	CPS1	NM_001875.5(CPS1):c.2798del:p.Arg932_Leu933insTer	coding	Pathogenic
2	210639194	CTA	C	A210639196G	CPS1	NM_001875.5(CPS1):c.2876_2877del:p.Tyr959fs	coding	Pathogenic
2	210639202	CCTACAATGGTCAG	C	C210639203G	CPS1	NM_001875.5(CPS1):c.2883_2895del:p.Tyr962fs	coding	Pathogenic
2	210647936	GT	G	T210647937G	CPS1	NM_001875.5(CPS1):c.3216del:p.Val1073fs	coding	Pathogenic
2	210656503	CT	C	T210656518G	CPS1	NM_001875.5(CPS1):c.3559-7del	noncoding	Benign
2	210656503	CTT	C	T210656517G	CPS1	NM_001875.5(CPS1):c.3559-8_3559-7del	noncoding	Benign
2	210656693	G	GTT	A210656710T	CPS1	NM_001875.5(CPS1):c.3666+76_3666+77dup	noncoding	Benign
2	210658611	AC	A	C210658614G	CPS1	NM_001875.5(CPS1):c.3682del:p.Arg1228fs	coding	Pathogenic
2	210662992	A	AT	A210662999T	CPS1	NM_001875.5(CPS1):c.3928-125dup	noncoding	Benign
2	210663129	A	AT	G210663131T	CPS1	NM_001875.5(CPS1):c.3935dup:p.Met1312fs	coding	Pathogenic
2	210668076	A	ATG	A210668106G	CPS1	NM_001875.5(CPS1):c.4003-109TG[15]	noncoding	Benign
2	210668076	A	ATGTG	A210668106G	CPS1	NM_001875.5(CPS1):c.4003-109TG[16]	noncoding	Benign
2	210668076	A	ATGTGTG	A210668106G	CPS1	NM_001875.5(CPS1):c.4003-109TG[17]	noncoding	Benign
2	210674471	CA	C	A210674482C	CPS1	NM_001875.5(CPS1):c.4102-420del	noncoding	Benign
2	210674479	AAAACC	A	C210674483A	CPS1	NM_001875.5(CPS1):c.4102-419_4102-415del	noncoding	Benign
2	210674480	AAACC	A	C210674483A	CPS1	NM_001875.5(CPS1):c.4102-419_4102-416del	noncoding	Benign
2	210675758	CTCAACGCCAACAA	C	C210675760G	CPS1	NM_001875.5(CPS1):c.4194_4206del:p.Asn1399fs	coding	Pathogenic
2	211387659	TA	T	A211387661T	ERBB4	NM_005235.3(ERBB4):c.3183+285del	noncoding	Benign
2	211420614	AAAAG	A	A211420620T	ERBB4	NM_005235.3(ERBB4):c.2965-7_2965-4del	noncoding	Benign
2	211421737	G	GTGTC	A211421744T	ERBB4	NM_005235.3(ERBB4):c.2964+266_2964+269dup	noncoding	Benign
2	211424417	TA	T	A211424429G	ERBB4	NM_005235.3(ERBB4):c.2720-117del	noncoding	Benign
2	211428211	TTAAAA	T	A211428239T	ERBB4	NM_005235.3(ERBB4):c.2719+167TTTTA[5]	noncoding	Benign
2	211428211	T	TTAAAA	T211428244A	ERBB4	NM_005235.3(ERBB4):c.2719+167TTTTA[7]	noncoding	Benign
2	211428211	T	TTAAAATAAAA	T211428244A	ERBB4	NM_005235.3(ERBB4):c.2719+167TTTTA[8]	noncoding	Benign
2	211430743	GTA	G	A211430753G	ERBB4	NM_005235.3(ERBB4):c.2643+192TA[4]	noncoding	Benign
2	211430766	TG	T	G211430767A	ERBB4	NM_005235.3(ERBB4):c.2643+178del	noncoding	Benign
2	211430773	T	TC	A211430774C	ERBB4	NM_005235.3(ERBB4):c.2643+171_2643+172insG	noncoding	Benign
2	211430865	G	GT	C211430869T	ERBB4	NM_005235.3(ERBB4):c.2643+77dup	noncoding	Benign
2	211624145	G	GC	A211624146C	ERBB4	NM_005235.3(ERBB4):c.2080-102_2080-101insG	noncoding	Benign
2	211630610	A	AG	A211630612G	ERBB4	NM_005235.3(ERBB4):c.1947-17dup	noncoding	Benign
2	211630611	GA	G	A211630622T	ERBB4	NM_005235.3(ERBB4):c.1947-18del	noncoding	Benign
2	211630611	G	GAA	T211630623A	ERBB4	NM_005235.3(ERBB4):c.1947-19_1947-18dup	noncoding	Benign
2	211630611	G	GA	T211630623A	ERBB4	NM_005235.3(ERBB4):c.1947-28dup	noncoding	Benign
2	211630617	A	AT	A211630618T	ERBB4	NM_005235.3(ERBB4):c.1947-24_1947-23insA	noncoding	Benign
2	211657509	CA	C	A211657523G	ERBB4	NM_005235.3(ERBB4):c.1946+244del	noncoding	Benign
2	211665493	G	GA	G211665503A	ERBB4	NM_005235.3(ERBB4):c.1717-17dup	noncoding	Benign
2	211679301	CT	C	T211679304G	ERBB4	NM_005235.3(ERBB4):c.1490-118del	noncoding	Benign
2	211701756	CAA	C	A211701783G	ERBB4	NM_005235.3(ERBB4):c.1489+209_1489+210del	noncoding	Benign
2	211701756	C	CA	G211701785A	ERBB4	NM_005235.3(ERBB4):c.1489+183dup	noncoding	Benign
2	211725503	T	TG	A211725506G	ERBB4	NM_005235.3(ERBB4):c.623-311dup	noncoding	Benign
2	212125215	AT	A	T212125226A	ERBB4	NM_005235.3(ERBB4):c.83-313del	noncoding	Benign
2	212538240	A	AC	G212538241C	ERBB4	NM_005235.3(ERBB4):c.82+208_82+209insG	noncoding	Benign
2	214728537	C	CT	G214728553T	BARD1	NM_000465.4(BARD1):c.*138dup	noncoding	Benign
2	214728673	TATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCCCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGC	T	A214728674T	BARD1	NM_000465.4(BARD1):c.1904-502_*2del	noncoding	Pathogenic
2	214728708	TCA	T	C214728713G	BARD1	NM_000465.4(BARD1):c.2300_2301del:p.Val767fs	coding	Pathogenic/Likely_pathogenic
2	214728993	C	CAA	C214728997A	BARD1	NM_000465.4(BARD1):c.2015_2016dup:p.Asp673fs	coding	Pathogenic/Likely_pathogenic
2	214744792	GGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGCTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGGCCTTGTGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCAGCCAGAAGCTTTTCCAAAATGCAGTGACTAACCAGAGGTAAGAAAATTAACATCAAGTTCCTTAATCACAGGCATTAATAACCATGAAAAACAAAACTAGTCTAATTCATTTCTTAATTCTCTCAAATCCAACACTTACATTCAAATTTTAGAATCCAGCATCCATTGAGAATCCCAA	G	T214744795A	BARD1	NM_000465.4(BARD1):c.1865_1903+274del	noncoding	Pathogenic/Likely_pathogenic
2	214745093	TTG	T	T214745094A	BARD1	NM_000465.4(BARD1):c.1875_1876del:p.Asn626fs	coding	Pathogenic
2	214745109	T	TACAC	T214745114A	BARD1	NM_000465.4(BARD1):c.1857_1860dup:p.Met621fs	coding	Pathogenic
2	214745151	CA	C	A214745152T	BARD1	NM_000465.4(BARD1):c.1818del:p.His606fs	coding	Pathogenic
2	214745168	C	CA	G214745176A	BARD1	NM_000465.4(BARD1):c.1811-16dup	noncoding	Benign/Likely_benign
2	214745755	T	TAAGAATTACTGCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGNNNNNNNNNNCAAAAAAAAAAAAAAAAAAA	A214745768G	BARD1	NM_000465.4(BARD1):c.1776_1777insTTTTTTTTTTTTTTTTTTTGNNNNNNNNNNCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGCAGTAATTCTT:p.Lys593delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuAspLeuLeuThrSerTer	coding	Pathogenic
2	214745802	AGCCCACT	A	C214745806T	BARD1	NM_000465.4(BARD1):c.1723_1729del:p.Ser575fs	coding	Pathogenic
2	214745818	G	GGTCCATCCTA	T214745819G	BARD1	NM_000465.4(BARD1):c.1713_1714insTAGGATGGAC:p.Leu572Ter	coding	Pathogenic
2	214752116	ATTATT	A	T214752123A	BARD1	NM_000465.4(BARD1):c.1677+326_1677+330del	noncoding	Benign
2	214752444	TACTACTGAGCAGTGGCTAGCTGAGGATGATTCATTCTTCTCTGGTAGCAGCAATAGCGATTTCATACTTTCATCATCTGTATAATCGACAGGCCGCAGACCAAATATATTAC	T	A214752445T	BARD1	NM_000465.4(BARD1):c.1569-1_1677+2del	noncoding	Pathogenic
2	214752464	CT	C	T214752465G	BARD1	NM_000465.4(BARD1):c.1659del:p.Ala554fs	coding	Pathogenic
2	214752506	TCATACTTTCATCATCTGTATAATCGACA	T	C214752507G	BARD1	NM_000465.4(BARD1):c.1590_1617del:p.Val531fs	coding	Pathogenic
2	214767311	A	AAGAG	A214767313G	BARD1	NM_000465.4(BARD1):c.1568+170_1568+171insTCTC	noncoding	Benign
2	214767400	ATT	A	T214767403A	BARD1	NM_000465.4(BARD1):c.1568+80_1568+81del	noncoding	Benign
2	214767510	G	GT	A214767512T	BARD1	NM_000465.4(BARD1):c.1539dup:p.Leu514fs	coding	Pathogenic
2	214767514	CA	C	A214767515G	BARD1	NM_000465.4(BARD1):c.1535del:p.Leu512fs	coding	Pathogenic
2	214767565	GTCA	TACCC	G214767565T	BARD1	NM_000465.4(BARD1):c.1482_1485delinsGGGTA:p.Asn494fs	coding	Pathogenic
2	214767568	ATT	A	T214767571G	BARD1	NM_000465.4(BARD1):c.1480_1481del:p.Gln493_Asn494insTer	coding	Pathogenic
2	214767575	T	TA	C214767577A	BARD1	NM_000465.4(BARD1):c.1474dup:p.Tyr492fs	coding	Pathogenic
2	214769251	TG	T	G214769253T	BARD1	NM_000465.4(BARD1):c.1375del:p.His459fs	coding	Pathogenic
2	214769255	C	CT	A214769259T	BARD1	NM_000465.4(BARD1):c.1371dup:p.Asp458fs	coding	Pathogenic
2	214769281	TG	T	G214769282T	BARD1	NM_000465.4(BARD1):c.1345del:p.Gln449fs	coding	Pathogenic
2	214769316	GA	G	A214769321T	BARD1	NM_000465.4(BARD1):c.1315-5del	noncoding	Benign
2	214780643	GACTA	G	A214780644G	BARD1	NM_000465.4(BARD1):c.1227_1230del:p.Ser410fs	coding	Pathogenic
2	214780709	T	TAATGA	T214780716A	BARD1	NM_000465.4(BARD1):c.1160_1164dup:p.Ser391fs	coding	Pathogenic
2	214780739	TCC	GG	T214780739G	BARD1	NM_000465.4(BARD1):c.1133_1135delinsCC:p.Arg378fs	coding	Pathogenic
2	214780802	GTATA	G	A214780804T	BARD1	NM_000465.4(BARD1):c.1068_1071del:p.Ile357fs	coding	Pathogenic
2	214780804	A	AT	A214780806T	BARD1	NM_000465.4(BARD1):c.1069dup:p.Ile357fs	coding	Pathogenic
2	214780868	ATC	A	C214780872T	BARD1	NM_000465.4(BARD1):c.1004_1005del:p.Arg335fs	coding	Pathogenic
2	214780897	TTG	T	T214780900A	BARD1	NM_000465.4(BARD1):c.975_976del:p.His325fs	coding	Pathogenic
2	214780917	ATTATTTT	C	A214780917C	BARD1	NM_000465.4(BARD1):c.950_957delinsG:p.Glu317fs	coding	Pathogenic
2	214780948	G	GT	A214780950T	BARD1	NM_000465.4(BARD1):c.925dup:p.Thr309fs	coding	Pathogenic
2	214780974	AG	A	G214780976A	BARD1	NM_000465.4(BARD1):c.899del:p.Pro300fs	coding	Pathogenic
2	214781017	AT	A	T214781020G	BARD1	NM_000465.4(BARD1):c.856del:p.Gln285_Ile286insTer	coding	Pathogenic
2	214781093	G	GT	A214781095T	BARD1	NM_000465.4(BARD1):c.780dup:p.Leu261fs	coding	Pathogenic
2	214781133	AG	A	G214781134A	BARD1	NM_000465.4(BARD1):c.740del:p.Ser247fs	coding	Pathogenic/Likely_pathogenic
2	214781157	CA	C	A214781158G	BARD1	NM_000465.4(BARD1):c.716del:p.Leu239fs	coding	Pathogenic
2	214781160	CT	C	T214781164G	BARD1	NM_000465.4(BARD1):c.713del:p.Lys238fs	coding	Pathogenic
2	214781241	TA	T	A214781244G	BARD1	NM_000465.4(BARD1):c.632del:p.Thr210_Leu211insTer	coding	Pathogenic
2	214781257	T	TG	C214781259G	BARD1	NM_000465.4(BARD1):c.616dup:p.Gln206fs	coding	Pathogenic
2	214781292	CCT	C	T214781296A	BARD1	NM_000465.4(BARD1):c.580_581del:p.Arg194fs	coding	Pathogenic
2	214781360	CT	C	T214781367A	BARD1	NM_000465.4(BARD1):c.513del:p.Asp172fs	coding	Pathogenic
2	214781435	ACCACATT	A	C214781436T	BARD1	NM_000465.4(BARD1):c.432_438del:p.Lys144fs	coding	Pathogenic
2	214781478	CA	C	A214781481C	BARD1	NM_000465.4(BARD1):c.395del:p.Leu132fs	coding	Pathogenic
2	214781478	C	CA	C214781482A	BARD1	NM_000465.4(BARD1):c.395dup:p.Leu132fs	coding	Pathogenic
2	214781482	CTT	C	T214781485C	BARD1	NM_000465.4(BARD1):c.390_391del:p.Ser131fs	coding	Pathogenic
2	214792150	T	TAA	C214792169A	BARD1	NM_000465.4(BARD1):c.364+129_364+130dup	noncoding	Benign
2	214792150	T	TA	C214792169A	BARD1	NM_000465.4(BARD1):c.364+129dup	noncoding	Benign
2	214792396	GGGTGTAACACACT	G	T214792399A	BARD1	NM_000465.4(BARD1):c.252_264del:p.Val85fs	coding	Pathogenic
2	214792402	AAC	A	A214792407T	BARD1	NM_000465.4(BARD1):c.257_258del:p.Cys86fs	coding	Pathogenic
2	214792458	T	TA	G214792475A	BARD1	NM_000465.4(BARD1):c.216-29dup	noncoding	Benign/Likely_benign
2	214796992	CA	C	A214796994G	BARD1	NM_000465.4(BARD1):c.215+68del	noncoding	Benign
2	214797089	AAC	A	C214797095G	BARD1	NM_000465.4(BARD1):c.185_186del:p.Cys62fs	coding	Pathogenic
2	214809462	GT	G	T214809463G	BARD1	NM_000465.4(BARD1):c.107del:p.His36fs	coding	Pathogenic
2	214809470	AG	A	G214809472C	BARD1	NM_000465.4(BARD1):c.99del:p.Trp34fs	coding	Pathogenic
2	214809486	CG	C	G214809488T	BARD1	NM_000465.4(BARD1):c.83del:p.Pro28fs	coding	Pathogenic
2	214809499	G	GAC	G214809500A	BARD1	NM_000465.4(BARD1):c.70_71insGT:p.Pro24fs	coding	Pathogenic
2	214809503	CG	C	G214809505A	BARD1	NM_000465.4(BARD1):c.66del:p.Ala23fs	coding	Pathogenic
2	214932807	CAT	C	A214932808T	ABCA12	NM_173076.3(ABCA12):c.7681-68_7681-67del	noncoding	Benign
2	214983950	G	GA	T214983957A	ABCA12	NM_173076.3(ABCA12):c.4164-91dup	noncoding	Benign
2	215064305	TA	T	A215064307C	ABCA12	NM_173076.3(ABCA12):c.164-87del	noncoding	Benign
2	215312609	C	GGA	C215312609G	ATIC	NM_004044.7(ATIC):c.131delinsGGA:p.Ala44fs	coding	Pathogenic
2	215361645	GA	G	A215361654T	FN1	NM_212482.4(FN1):c.7363-20del	noncoding	Benign
2	215365806	AT	A	T215365823G	FN1	NM_212482.4(FN1):c.7019-177del	noncoding	Benign
2	215365806	ATT	A	T215365822G	FN1	NM_212482.4(FN1):c.7019-178_7019-177del	noncoding	Benign
2	215365806	ATTT	A	T215365821G	FN1	NM_212482.4(FN1):c.7019-179_7019-177del	noncoding	Benign
2	215370548	AAAAAAC	A	C215370554A	FN1	NM_212482.4(FN1):c.6715-122_6715-117del	noncoding	Benign
2	215371610	TA	T	A215371624G	FN1	NM_212482.4(FN1):c.6714+298del	noncoding	Benign
2	215371610	T	TA	G215371625A	FN1	NM_212482.4(FN1):c.6714+285dup	noncoding	Benign
2	215371673	CT	C	T215371693C	FN1	NM_212482.4(FN1):c.6714+235del	noncoding	Benign
2	215371673	CTT	C	T215371692C	FN1	NM_212482.4(FN1):c.6714+234_6714+235del	noncoding	Benign
2	215371673	CTTT	C	T215371691C	FN1	NM_212482.4(FN1):c.6714+233_6714+235del	noncoding	Benign
2	215372696	TTC	T	C215372702T	FN1	NM_212482.4(FN1):c.6248-327GA[2]	noncoding	Benign
2	215373671	CTTTTT	C	T215373693G	FN1	NM_212482.4(FN1):c.6158-265_6158-261del	noncoding	Benign
2	215373671	CTTTTTTTTTTTTTT	C	T215373684G	FN1	NM_212482.4(FN1):c.6158-274_6158-261del	noncoding	Benign
2	215373671	CTTTTTTTTTTTTTTT	C	T215373683G	FN1	NM_212482.4(FN1):c.6158-275_6158-261del	noncoding	Benign
2	215375403	AAC	A	C215375405A	FN1	NM_212482.4(FN1):c.5978-12_5978-11del	noncoding	Benign
2	215378513	T	TA	T215378522A	FN1	NM_212482.4(FN1):c.5623-259dup	noncoding	Benign
2	215379458	AGTAC	A	G215379463A	FN1	NM_212482.4(FN1):c.5435-145_5435-142del	noncoding	Benign
2	215383984	TAA	T	A215383987G	FN1	NM_212482.4(FN1):c.4894+34_4894+35del	noncoding	Benign
2	215385248	TAAAA	T	A215385267G	FN1	NM_212482.4(FN1):c.4613-276_4613-273del	noncoding	Benign
2	215385248	TAA	T	A215385269G	FN1	NM_212482.4(FN1):c.4613-274_4613-273del	noncoding	Benign
2	215385248	TA	T	A215385270G	FN1	NM_212482.4(FN1):c.4613-273del	noncoding	Benign
2	215393226	GA	G	A215393227G	FN1	NM_212482.4(FN1):c.3797-24del	noncoding	Benign
2	215393427	A	AATAT	T215393446A	FN1	NM_212482.4(FN1):c.3797-242AT[11]	noncoding	Benign
2	215393427	A	AAT	T215393446A	FN1	NM_212482.4(FN1):c.3797-242AT[10]	noncoding	Benign
2	215393445	T	TA	T215393446A	FN1	NM_212482.4(FN1):c.3797-243_3797-242insT	noncoding	Benign
2	215393446	T	TA	T215393447A	FN1	NM_212482.4(FN1):c.3797-244_3797-243insT	noncoding	Benign
2	215397401	TTC	T	C215397403T	FN1	NM_212482.4(FN1):c.3518-180_3518-179del	noncoding	Benign
2	215397579	CT	C	T215397580G	FN1	NM_212482.4(FN1):c.3517+100del	noncoding	Benign
2	215399215	C	CT	C215399217T	FN1	NM_212482.4(FN1):c.3348+41dup	noncoding	Benign
2	215404307	T	TTTTTTG	G215404308T	FN1	NM_212482.4(FN1):c.3253+81_3253+82insCAAAAA	noncoding	Benign
2	215406519	CAA	C	A215406520G	FN1	NM_212482.4(FN1):c.2714-11_2714-10del	noncoding	Benign/Likely_benign
2	215407946	CA	C	A215407947C	FN1	NM_212482.4(FN1):c.2518+161del	noncoding	Benign
2	215407947	AC	A	C215407952G	FN1	NM_212482.4(FN1):c.2518+160del	noncoding	Benign
2	215407954	CCACACA	C	C215407975A	FN1	NM_212482.4(FN1):c.2518+128TG[10]	noncoding	Benign
2	215407954	CCACA	C	C215407977A	FN1	NM_212482.4(FN1):c.2518+128TG[11]	noncoding	Benign
2	215407954	CCA	C	C215407979A	FN1	NM_212482.4(FN1):c.2518+128TG[12]	noncoding	Benign
2	215410130	A	AACACAC	G215410153A	FN1	NM_212482.4(FN1):c.1942-38GT[14]	noncoding	Benign
2	215410130	A	AACAC	G215410153A	FN1	NM_212482.4(FN1):c.1942-38GT[13]	noncoding	Benign
2	215410130	A	AAC	G215410153A	FN1	NM_212482.4(FN1):c.1942-38GT[12]	noncoding	Benign
2	215410130	AAC	A	A215410151G	FN1	NM_212482.4(FN1):c.1942-38GT[10]	noncoding	Benign
2	215410130	AACAC	A	A215410149G	FN1	NM_212482.4(FN1):c.1942-38GT[9]	noncoding	Benign/Likely_benign
2	215415225	CTT	C	T215415226G	FN1	NM_212482.4(FN1):c.1820-269_1820-268del	noncoding	Benign
2	215418971	CAG	C	A215418974T	FN1	NM_212482.4(FN1):c.1819+269_1819+270del	noncoding	Benign
2	215419561	TA	T	A215419571C	FN1	NM_212482.4(FN1):c.1676-177del	noncoding	Benign
2	215420340	AAAAAAC	A	A215420362C	FN1	NM_212482.4(FN1):c.1675+309GTTTTT[3]	noncoding	Benign
2	215420368	C	CA	G215420379A	FN1	NM_212482.4(FN1):c.1675+295dup	noncoding	Benign
2	215420371	A	AC	A215420372C	FN1	NM_212482.4(FN1):c.1675+301_1675+302insG	noncoding	Benign
2	215423180	TCA	T	C215423211A	FN1	NM_212482.4(FN1):c.1393+138TG[15]	noncoding	Benign
2	215423180	T	TCA	A215423213C	FN1	NM_212482.4(FN1):c.1393+138TG[17]	noncoding	Benign
2	215423180	T	TCACA	A215423213C	FN1	NM_212482.4(FN1):c.1393+138TG[18]	noncoding	Benign
2	215423180	T	TCACACA	A215423213C	FN1	NM_212482.4(FN1):c.1393+138TG[19]	noncoding	Benign
2	215423180	T	TCACACACACA	A215423213C	FN1	NM_212482.4(FN1):c.1393+138TG[21]	noncoding	Benign
2	215423749	A	AC	A215423758C	FN1	NM_212482.4(FN1):c.1217-231dup	noncoding	Benign
2	215424539	GTCCT	G	C215424542A	FN1	NM_212482.4(FN1):c.1037-218_1037-215del	noncoding	Benign
2	215432007	A	AT	G215432019T	FN1	NM_212482.4(FN1):c.416-54dup	noncoding	Benign
2	215434408	A	AT	G215434417T	FN1	NM_212482.4(FN1):c.277+280dup	noncoding	Benign
2	215434827	GC	AA	G215434827A	FN1	NM_212482.4(FN1):c.149-4_149-3delinsTT	noncoding	Benign
2	215434848	T	TTAC	A215434852T	FN1	NM_212482.4(FN1):c.149-27_149-25dup	noncoding	Benign
2	215436182	ACCCG	A	C215436197G	FN1	Single_allele	noncoding	Benign
2	216414952	A	AC	A216414955C	SMARCAL1	NM_014140.4(SMARCAL1):c.250dup:p.Gln84fs	coding	Pathogenic/Likely_pathogenic
2	216415312	AC	A	C216415313A	SMARCAL1	NM_014140.4(SMARCAL1):c.609del:p.Asn203fs	coding	Pathogenic
2	216415324	TC	T	C216415326A	SMARCAL1	NM_014140.4(SMARCAL1):c.622del:p.His208fs	coding	Pathogenic
2	216415344	G	GT	A216415346T	SMARCAL1	NM_014140.4(SMARCAL1):c.641dup:p.Thr215fs	coding	Pathogenic
2	216415538	GT	G	T216415553C	SMARCAL1	NM_014140.4(SMARCAL1):c.811+38del	noncoding	Benign
2	216415538	GTT	G	T216415552C	SMARCAL1	NM_014140.4(SMARCAL1):c.811+37_811+38del	noncoding	Benign
2	216415538	GTTT	G	T216415551C	SMARCAL1	NM_014140.4(SMARCAL1):c.811+36_811+38del	noncoding	Benign
2	216416427	AC	A	C216416435A	SMARCAL1	NM_014140.4(SMARCAL1):c.862+128del	noncoding	Benign
2	216420429	CA	C	A216420432G	SMARCAL1	NM_014140.4(SMARCAL1):c.996del:p.Arg334fs	coding	Pathogenic
2	216420461	ACTTCGAGG	A	T216420463A	SMARCAL1	NM_014140.4(SMARCAL1):c.1027_1034del:p.Phe343fs	coding	Pathogenic
2	216428638	TG	T	G216428639C	SMARCAL1	NM_014140.4(SMARCAL1):c.1191del:p.Thr399fs	coding	Pathogenic
2	216428710	C	CA	G216428712A	SMARCAL1	NM_014140.4(SMARCAL1):c.1263dup:p.Glu422fs	coding	Pathogenic
2	216432807	AC	A	C216432809G	SMARCAL1	NM_014140.4(SMARCAL1):c.1426del:p.Arg476fs	coding	Pathogenic
2	216432818	T	TG	C216432821G	SMARCAL1	NM_014140.4(SMARCAL1):c.1437dup:p.Pro480fs	coding	Pathogenic
2	216435366	GC	G	C216435369A	SMARCAL1	NM_014140.4(SMARCAL1):c.1517del:p.Pro506fs	coding	Pathogenic
2	216435392	ACTGGGAAGGACCGCCTGACAGCTGGC	A	G216435396A	SMARCAL1	NM_014140.4(SMARCAL1):c.1544_1569del:p.Gly515fs	coding	Pathogenic
2	216435473	AC	A	C216435477T	SMARCAL1	NM_014140.4(SMARCAL1):c.1625del:p.Pro542fs	coding	Pathogenic
2	216435481	TA	T	A216435484G	SMARCAL1	NM_014140.4(SMARCAL1):c.1632del:p.Val545fs	coding	Pathogenic
2	216447033	AT	A	T216447034C	SMARCAL1	NM_014140.4(SMARCAL1):c.1727del:p.Ile576fs	coding	Pathogenic
2	216447112	T	TC	A216447118C	SMARCAL1	NM_014140.4(SMARCAL1):c.1810dup:p.Gln604fs	coding	Pathogenic
2	216450914	A	AG	T216450916G	SMARCAL1	NM_014140.4(SMARCAL1):c.1921dup:p.Val641fs	coding	Pathogenic
2	216451065	G	GT	G216451067T	SMARCAL1	NM_014140.4(SMARCAL1):c.2070+2dup	coding	Pathogenic
2	216464709	C	CA	C216464724A	SMARCAL1	NM_014140.4(SMARCAL1):c.2141+56dup	noncoding	Benign
2	216475447	CA	C	A216475448G	SMARCAL1	NM_014140.4(SMARCAL1):c.2424del:p.Val810fs	coding	Pathogenic
2	216477185	AG	A	G216477188C	SMARCAL1	NM_014140.4(SMARCAL1):c.2507del:p.Gly836fs	coding	Pathogenic
2	216478413	G	GC	T216478416C	SMARCAL1	NM_014140.4(SMARCAL1):c.2625+116dup	noncoding	Benign
2	218135768	CA	C	A218135769T	CXCR2	NM_001557.4(CXCR2):c.968del:p.His323fs	coding	Pathogenic
2	218323048	C	CGG	C218323052G	PNKD	NM_015488.5(PNKD):c.237-16733_237-16732dup	noncoding	Benign
2	218342159	AAG	A	A218342166G	PNKD	NM_015488.5(PNKD):c.781+16AG[3]	noncoding	Benign
2	218344961	GATATGC	G	T218344963C	PNKD	NM_015488.5(PNKD):c.1140_1145del:p.Met381_His382del	coding	Benign/Likely_benign
2	218661904	CAG	C	G218661908C	BCS1L	NM_001079866.2(BCS1L):c.610_611del:p.Asp204fs	coding	Pathogenic
2	218662236	CT	C	T218662237G	BCS1L	NM_001079866.2(BCS1L):c.696del:p.Gly233fs	coding	Pathogenic
2	218662560	CG	C	G218662562A	BCS1L	NM_001079866.2(BCS1L):c.772del:p.Asp258fs	coding	Pathogenic/Likely_pathogenic
2	218662607	GC	G	C218662611G	BCS1L	NM_001079866.2(BCS1L):c.821del:p.Pro274fs	coding	Pathogenic/Likely_pathogenic
2	218688713	TG	T	G218688715A	STK36	NM_015690.5(STK36):c.1399del:p.Glu467fs	coding	Pathogenic
2	218692753	G	GTT	G218692754T	STK36	NM_015690.5(STK36):c.2043+43_2043+44insTT	noncoding	Benign
2	218692754	GAA	G	A218692755T	STK36	NM_015690.5(STK36):c.2043+45_2043+46del	noncoding	Benign
2	218781627	TA	T	A218781638C	CYP27A1	Single_allele	noncoding	Benign
2	218782224	A	AG	C218782229G	CYP27A1	NM_000784.4(CYP27A1):c.46dup:p.Ala16fs	coding	Pathogenic
2	218782224	AGG	A	G218782227C	CYP27A1	NM_000784.4(CYP27A1):c.45_46del:p.Ala16fs	coding	Pathogenic
2	218809437	A	ACG	T218809438C	CYP27A1	NM_000784.4(CYP27A1):c.256-140_256-139insCG	noncoding	Benign
2	218809746	TG	T	G218809747A	CYP27A1	NM_000784.4(CYP27A1):c.426del:p.Thr143fs	coding	Pathogenic
2	218812299	CG	C	G218812301A	CYP27A1	NM_000784.4(CYP27A1):c.526del:p.Asp176fs	coding	Pathogenic/Likely_pathogenic
2	218812603	TC	T	C218812607G	CYP27A1	NM_000784.4(CYP27A1):c.702del:p.Glu235fs	coding	Pathogenic
2	218812656	TCA	T	A218812658T	CYP27A1	NM_000784.4(CYP27A1):c.753_754del:p.Tyr253fs	coding	Pathogenic
2	218812669	CCT	C	C218812670T	CYP27A1	NM_000784.4(CYP27A1):c.765_766del:p.Phe256fs	coding	Pathogenic
2	218813083	CT	C	T218813084G	CYP27A1	NM_000784.4(CYP27A1):c.1005del:p.Gly336fs	coding	Pathogenic/Likely_pathogenic
2	218813095	CG	C	G218813097T	CYP27A1	NM_000784.4(CYP27A1):c.1017+1del	coding	Pathogenic
2	218813105	AG	A	G218813110A	CYP27A1	NM_000784.4(CYP27A1):c.1017+14del	noncoding	Benign
2	218814432	G	GT	G218814435T	CYP27A1	NM_000784.4(CYP27A1):c.1239dup:p.Asp414Ter	coding	Pathogenic
2	218814617	C	CCCCA	G218814624C	CYP27A1	NM_000784.4(CYP27A1):c.1339_1342dup:p.Arg448fs	coding	Pathogenic
2	218814715	CC	AA	C218814715A	CYP27A1	NM_000784.4(CYP27A1):c.1434_1435delinsAA:p.Arg479Ser	coding	Pathogenic
2	218814902	AC	A	C218814908A	CYP27A1	NM_000784.4(CYP27A1):c.1477-3del	noncoding	Benign
2	218814948	CG	C	G218814953A	CYP27A1	NM_000784.4(CYP27A1):c.1519del:p.Glu507fs	coding	Pathogenic
2	218881047	C	CCG	G218881052C	WNT10A	NM_025216.3(WNT10A):c.55_56dup:p.Pro20fs	coding	Pathogenic
2	218881078	TC	T	C218881080T	WNT10A	NM_025216.3(WNT10A):c.85del:p.Leu29fs	coding	Pathogenic
2	218882189	C	CG	C218882191G	WNT10A	NM_025216.3(WNT10A):c.143dup:p.Leu49fs	coding	Pathogenic
2	218882340	AC	A	C218882342A	WNT10A	NM_025216.3(WNT10A):c.295del:p.Gln99fs	coding	Pathogenic
2	218890096	G	GCGAGGGGA	A218890110G	WNT10A	NM_025216.3(WNT10A):c.495_502dup:p.Glu168fs	coding	Pathogenic
2	218890138	ACAACT	A	C218890139G	WNT10A	NM_025216.3(WNT10A):c.532_536del:p.Gln178fs	coding	Pathogenic
2	218890185	CG	C	G218890187A	WNT10A	NM_025216.3(WNT10A):c.580del:p.Glu194fs	coding	Pathogenic
2	218890251	GC	G	C218890255G	WNT10A	NM_025216.3(WNT10A):c.648del:p.Asp217fs	coding	Pathogenic
2	218892862	AGTTCC	A	T218892864C	WNT10A	NM_025216.3(WNT10A):c.847_851del:p.Phe283fs	coding	Pathogenic
2	218892916	TCCGG	T	G218892920C	WNT10A	NM_025216.3(WNT10A):c.903_906del:p.Pro302fs	coding	Pathogenic
2	218892948	GA	G	A218892949G	WNT10A	NM_025216.3(WNT10A):c.932del:p.Glu311fs	coding	Pathogenic
2	218892948	G	GA	G218892950A	WNT10A	NM_025216.3(WNT10A):c.932dup:p.Pro312fs	coding	Pathogenic
2	218893004	A	ACGGGCCAGCCCCGC	A218893021G	WNT10A	NM_025216.3(WNT10A):c.990_1003dup:p.Asp335fs	coding	Pathogenic
2	218893008	GC	G	C218893010A	WNT10A	NM_025216.3(WNT10A):c.993del:p.Ser332fs	coding	Pathogenic
2	218893078	CG	C	G218893080C	WNT10A	NM_025216.3(WNT10A):c.1063del:p.Ala355fs	coding	Pathogenic
2	218893106	C	CA	G218893109A	WNT10A	NM_025216.3(WNT10A):c.1091dup:p.Ser365fs	coding	Pathogenic
2	218982446	C	CT	A218982449T	FEV	NM_017521.3(FEV):c.128-192dup	noncoding	Benign
2	219057351	G	GC	T219057353C	IHH	NM_002181.4(IHH):c.577+81dup	noncoding	Benign
2	219060182	TCTC	T	C219060186G	IHH	NM_002181.4(IHH):c.280GAG[1]:p.Glu95del	coding	Pathogenic/Likely_pathogenic
2	219077650	A	AT	A219077665T	NHEJ1	NM_024782.3(NHEJ1):c.707-300dup	noncoding	Benign
2	219078123	TTG	T	T219078128G	NHEJ1	NM_024782.3(NHEJ1):c.670_671del:p.Gln224fs	coding	Pathogenic
2	219078285	GC	G	C219078286A	NHEJ1	NM_024782.3(NHEJ1):c.589-80del	noncoding	Benign
2	219146698	C	CAAGAAGGAATTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGTATCACGAGGACAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T219146713G	NHEJ1	NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT:p.Leu190fs	coding	Pathogenic
2	219157989	TCTCACACA	T	T219157991A	NHEJ1	NM_024782.3(NHEJ1):c.177+189_177+196del	noncoding	Benign
2	219157989	TCTCACA	T	T219157991A	NHEJ1	NM_024782.3(NHEJ1):c.177+191_177+196del	noncoding	Benign
2	219157991	TCACACACA	T	C219158032A	NHEJ1	NM_024782.3(NHEJ1):c.177+147TG[20]	noncoding	Benign
2	219157991	TCACACA	T	C219158034A	NHEJ1	NM_024782.3(NHEJ1):c.177+147TG[21]	noncoding	Benign
2	219157991	TCACA	T	C219158036A	NHEJ1	NM_024782.3(NHEJ1):c.177+147TG[22]	noncoding	Benign
2	219157991	TCA	T	C219158038A	NHEJ1	NM_024782.3(NHEJ1):c.177+147TG[23]	noncoding	Benign
2	219217643	CA	C	A219217654G	ABCB6	NM_005689.4(ABCB6):c.687+26del	noncoding	Benign
2	219217643	C	CA	G219217655A	ABCB6	NM_005689.4(ABCB6):c.687+16dup	noncoding	Benign
2	219217920	T	TA	G219217937A	ABCB6	NM_005689.4(ABCB6):c.550-129dup	noncoding	Benign
2	219235807	CAGCAGG	C	C219235816G	ANKZF1	NM_018089.3(ANKZF1):c.1906CAGGAG[1]:p.636QE[1]	coding	Benign
2	219252540	G	GC	A219252551C	TUBA4A	NM_006000.3(TUBA4A):c.4-320dup	noncoding	Benign
2	219252541	C	CA	C219252542A	TUBA4A	NM_006000.3(TUBA4A):c.4-312_4-311insT	noncoding	Benign
2	219252547	C	CA	C219252548A	TUBA4A	NM_006000.3(TUBA4A):c.4-318_4-317insT	noncoding	Benign
2	219253950	C	CG	C219253961G	TUBA4A	NM_001355221.1(TUBA4B):c.12+541dup	noncoding	Benign
2	219253950	CG	C	G219253960C	TUBA4A	NM_001355221.1(TUBA4B):c.12+541del	noncoding	Benign
2	219280628	AAG	A	A219280631T	DNAJB2	NM_006736.6(DNAJB2):c.119_120del:p.Glu40fs	coding	Pathogenic
2	219281887	C	CG	C219281889G	DNAJB2	NM_006736.6(DNAJB2):c.230-51dup	noncoding	Benign
2	219418446	T	TGCGCCCGCCAGCC	C219418447G	DES	NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC	noncoding	Benign
2	219418571	CG	C	G219418574C	DES	NM_001927.4(DES):c.112del:p.Ala38fs	coding	Pathogenic
2	219418651	C	CG	C219418657G	DES	NM_001927.4(DES):c.194dup:p.Leu66fs	coding	Pathogenic
2	219418769	AC	A	C219418771A	DES	NM_001927.4(DES):c.309del:p.Thr104fs	coding	Pathogenic
2	219418799	CAG	C	A219418800G	DES	NM_001927.4(DES):c.338_339del:p.Gln113fs	coding	Pathogenic
2	219418799	CAGG	C	G219418802C	DES	NM_001927.4(DES):c.340_342del:p.Glu114del	coding	Pathogenic
2	219418806	T	TC	A219418808C	DES	NM_001927.4(DES):c.345dup:p.Asn116fs	coding	Pathogenic
2	219418909	GCGAGTGGC	G	T219418914C	DES	NM_001927.4(DES):c.452_459del:p.Val151fs	coding	Pathogenic
2	219418977	AGC	A	C219418987T	DES	NM_001927.4(DES):c.525_526del:p.Val176fs	coding	Pathogenic
2	219420328	TAAG	T	G219420331A	DES	NM_001927.4(DES):c.720_722del:p.Lys241del	coding	Pathogenic
2	219420328	T	TA	G219420331A	DES	NM_001927.4(DES):c.719dup:p.Lys241fs	coding	Pathogenic
2	219420345	AGGTATACCTT	A	T219420348C	DES	NM_001927.4(DES):c.735+2_735+11del	coding	Pathogenic
2	219421324	T	TC	T219421330C	DES	NM_001927.4(DES):c.1024-11dup	noncoding	Benign
2	219421545	AGGGAGAG	A	G219421547A	DES	NM_001927.4(DES):c.1231_1237del:p.Gly411fs	coding	Pathogenic
2	219421669	AT	A	T219421683G	DES	NM_001927.4(DES):c.1244+123del	noncoding	Benign
2	219426029	CT	C	T219426030G	DES	NM_001927.4(DES):c.*40del	noncoding	Benign
2	219465935	GTGCA	G	T219465936C	SPEG	NM_005876.5(SPEG):c.2882-1238_2882-1235del	noncoding	Benign
2	219477216	C	CGGGGCCTGGTACAGCGGCT	C219477217G	SPEG	NM_005876.5(SPEG):c.4561-61_4561-60insGGGGCCTGGTACAGCGGCT	noncoding	Benign
2	219484153	A	AC	A219484161C	SPEG	NM_005876.5(SPEG):c.6697dup:p.Gln2233fs	coding	Pathogenic
2	219499740	TATTTGGG	T	A219499741G	GMPPA	NM_013335.4(GMPPA):c.-20-215_-20-209del	noncoding	Benign
2	219550873	GGA	G	G219550878A	OBSL1	NM_015311.3(OBSL1):c.5684-37TC[2]	noncoding	Benign
2	219561644	G	GC	T219561647C	OBSL1	NM_015311.3(OBSL1):c.2953+756dup	noncoding	Benign
2	219562706	GA	G	A219562707G	OBSL1	NM_015311.3(OBSL1):c.2681-33del	noncoding	Benign
2	219563457	GC	AA	G219563457A	OBSL1	NM_015311.3(OBSL1):c.2577_2578delinsTT:p.Pro860Ser	coding	Benign
2	219565484	TC	T	C219565486T	OBSL1	NM_015311.3(OBSL1):c.2164del:p.Asp722fs	coding	Pathogenic
2	219568261	A	ACGGCAATC	C219568271G	OBSL1	NM_015311.3(OBSL1):c.1068_1075dup:p.Val359fs	coding	Pathogenic
2	219570433	C	CA	G219570435A	OBSL1	NM_015311.3(OBSL1):c.799dup:p.Cys267fs	coding	Pathogenic
2	219570774	G	GC	G219570781C	OBSL1	NM_015311.3(OBSL1):c.458dup:p.Leu154fs	coding	Pathogenic
2	219570973	CG	C	G219570976C	OBSL1	NM_015311.3(OBSL1):c.259del:p.Arg87fs	coding	Pathogenic
2	219571197	C	CG	C219571204G	OBSL1	NM_015311.3(OBSL1):c.35dup:p.Cys13fs	coding	Pathogenic/Likely_pathogenic
2	221501186	G	GA	C221501194A	EPHA4	NM_004438.5(EPHA4):c.824-21dup	noncoding	Benign
2	222201298	A	AC	A222201307C	PAX3	NM_181458.4(PAX3):c.*109dup	coding	Benign
2	222220215	AT	A	T222220216A	PAX3	NM_181458.4(PAX3):c.1097del:p.Tyr366fs	coding	Pathogenic
2	222220296	TAC	T	C222220298G	PAX3	NM_181458.4(PAX3):c.1015_1016del:p.Val339fs	coding	Pathogenic
2	222221254	T	TC	G222221257C	PAX3	NM_181458.4(PAX3):c.925dup:p.Glu309fs	coding	Pathogenic
2	222221300	AC	A	C222221306G	PAX3	NM_181458.4(PAX3):c.879del:p.Phe294fs	coding	Pathogenic
2	222293437	AT	A	T222293445C	PAX3	NM_181458.4(PAX3):c.586+729del	noncoding	Benign
2	222293933	GT	G	T222293935A	PAX3	NM_181458.4(PAX3):c.586+233del	coding	Benign
2	222294249	C	CT	C222294251T	PAX3	NM_181458.4(PAX3):c.503dup:p.Glu169fs	coding	Pathogenic
2	222294254	CT	C	T222294256C	PAX3	NM_181458.4(PAX3):c.498del:p.Glu167fs	coding	Pathogenic
2	222295605	TTC	T	C222295611T	PAX3	NM_181458.4(PAX3):c.372_373del:p.Asn125fs	coding	Pathogenic
2	222295611	CTT	C	T222295614G	PAX3	NM_181458.4(PAX3):c.366_367del:p.Asn125fs	coding	Pathogenic
2	222297010	GT	G	T222297011A	PAX3	NM_181458.4(PAX3):c.288del:p.Arg97fs	coding	Pathogenic
2	222297034	TG	T	G222297035C	PAX3	NM_181458.4(PAX3):c.264del:p.Leu87_Cys88insTer	coding	Pathogenic
2	222297155	GC	G	C222297157G	PAX3	NM_181458.4(PAX3):c.143del:p.Gly48fs	coding	Pathogenic
2	222297175	CG	C	G222297176A	PAX3	NM_181458.4(PAX3):c.123del:p.Gly42fs	coding	Pathogenic
2	222613864	AG	A	G222613868C	FARSB	NM_005687.5(FARSB):c.1408del:p.Leu470fs	coding	Pathogenic
2	223959835	ACTG	TC	A223959835T	MRPL44	NM_022915.5(MRPL44):c.481_484delinsTC:p.Thr161fs	coding	Pathogenic
2	223963451	G	GA	T223963462A	MRPL44	NM_022915.5(MRPL44):c.649-295dup	noncoding	Benign
2	224474474	T	TAGTAA	T224474475A	CUL3	NM_003590.5(CUL3):c.2176-99_2176-98insTTACT	noncoding	Benign
2	224478499	C	CTTAT	A224478503T	CUL3	NM_003590.5(CUL3):c.2030-155_2030-154insTAAA	noncoding	Benign
2	224495915	T	TCA	A224495916C	CUL3	NM_003590.5(CUL3):c.1758_1759insTG:p.Thr587Ter	coding	Pathogenic
2	224497936	T	TTG	A224497958G	CUL3	NM_003590.5(CUL3):c.1611-107CA[11]	noncoding	Benign
2	224503789	TA	T	A224503790T	CUL3	NM_003590.5(CUL3):c.1239del:p.Asp413fs	coding	Pathogenic
2	224506125	A	AAT	A224506129T	CUL3	NM_003590.5(CUL3):c.1035_1036dup:p.Leu346fs	coding	Pathogenic
2	224513665	ATAAT	A	T224513669A	CUL3	NM_003590.5(CUL3):c.540-31_540-28del	noncoding	Benign
2	224513784	CG	C	G224513785A	CUL3	NM_003590.5(CUL3):c.540-147del	noncoding	Benign
2	224514636	T	TC	T224514638C	CUL3	NM_003590.5(CUL3):c.514dup:p.Glu172fs	coding	Pathogenic
2	224514656	TAG	T	A224514659T	CUL3	NM_003590.5(CUL3):c.493_494del:p.Leu165fs	coding	Pathogenic/Likely_pathogenic
2	224514714	ATAAT	A	T224514719C	CUL3	NM_003590.5(CUL3):c.433_436del:p.Ile145fs	coding	Pathogenic
2	224535468	CCTTCAA	C	C224535475A	CUL3	NM_003590.5(CUL3):c.378+54_378+59del	noncoding	Benign
2	224557363	GA	G	A224557370T	CUL3	NM_003590.5(CUL3):c.264+295del	noncoding	Benign
2	224557522	AT	A	T224557524A	CUL3	NM_003590.5(CUL3):c.264+136del	noncoding	Benign
2	224557785	AC	A	C224557786G	CUL3	NM_003590.5(CUL3):c.137del:p.Arg46fs	coding	Pathogenic
2	227007351	ACCGGCTGATTTTCTGGCGTTGGG	A	G227007354T	COL4A4	NM_000092.5(COL4A4):c.5024_5046del:p.Ala1675fs	coding	Pathogenic
2	227007365	T	TGG	C227007368G	COL4A4	NM_000092.5(COL4A4):c.5031_5032dup:p.Gln1678fs	coding	Pathogenic
2	227007428	G	GCTTTCACC	G227007437C	COL4A4	NM_000092.5(COL4A4):c.4962_4969dup:p.Ala1657delinsGlyTer	coding	Pathogenic
2	227007547	CAT	C	T227007549A	COL4A4	NM_000092.5(COL4A4):c.4849_4850del:p.Met1617fs	coding	Pathogenic
2	227008140	CAT	C	T227008142G	COL4A4	NM_000092.5(COL4A4):c.4685_4686del:p.Tyr1562fs	coding	Pathogenic
2	227008142	TA	T	A227008143G	COL4A4	NM_000092.5(COL4A4):c.4684del:p.Tyr1562fs	coding	Pathogenic
2	227008180	G	GA	G227008182A	COL4A4	NM_000092.5(COL4A4):c.4646dup:p.Met1551fs	coding	Pathogenic
2	227008270	CGTGCTAAATACGG	C	T227008272A	COL4A4	NM_000092.5(COL4A4):c.4544_4556del:p.Pro1515fs	coding	Pathogenic
2	227010326	GT	G	T227010327G	COL4A4	NM_000092.5(COL4A4):c.4508del:p.His1503fs	coding	Pathogenic
2	227010331	C	CT	C227010335T	COL4A4	NM_000092.5(COL4A4):c.4503dup:p.Ala1502fs	coding	Pathogenic
2	227010360	C	CTA	C227010365T	COL4A4	NM_000092.5(COL4A4):c.4473_4474dup:p.Ser1492fs	coding	Pathogenic
2	227010378	CT	C	T227010379G	COL4A4	NM_000092.5(COL4A4):c.4456del:p.Arg1486fs	coding	Pathogenic
2	227010384	A	ATG	C227010387T	COL4A4	NM_000092.5(COL4A4):c.4449_4450dup:p.Met1484fs	coding	Pathogenic
2	227010390	AG	A	G227010395C	COL4A4	NM_000092.5(COL4A4):c.4444del:p.Leu1482fs	coding	Pathogenic
2	227012208	CTG	C	G227012212C	COL4A4	NM_000092.5(COL4A4):c.4304_4305del:p.Thr1435fs	coding	Pathogenic
2	227012287	TC	T	C227012289T	COL4A4	NM_000092.5(COL4A4):c.4226del:p.Gly1409fs	coding	Pathogenic
2	227021825	A	AAAAAT	T227021853A	COL4A4	NM_000092.5(COL4A4):c.4216+198ATTTT[6]	noncoding	Benign
2	227022063	C	CT	C227022065T	COL4A4	NM_000092.5(COL4A4):c.4200dup:p.Gly1401fs	coding	Pathogenic
2	227022076	GA	G	A227022077G	COL4A4	NM_000092.5(COL4A4):c.4187del:p.Leu1396fs	coding	Pathogenic
2	227022166	C	CG	T227022169G	COL4A4	NM_000092.5(COL4A4):c.4097dup:p.Pro1368fs	coding	Pathogenic
2	227027638	AAT	A	T227027650G	COL4A4	NM_000092.5(COL4A4):c.4081+252AT[5]	noncoding	Benign
2	227028012	T	TA	C227028022A	COL4A4	NM_000092.5(COL4A4):c.3974-12dup	noncoding	Benign/Likely_benign
2	227030492	AG	A	G227030495C	COL4A4	NM_000092.5(COL4A4):c.3923del:p.Pro1308fs	coding	Pathogenic
2	227030532	CCA	C	C227030535G	COL4A4	NM_000092.5(COL4A4):c.3882_3883del:p.Cys1294fs	coding	Pathogenic
2	227030534	A	ACAGT	C227030541G	COL4A4	NM_000092.5(COL4A4):c.3878_3881dup:p.Cys1294Ter	coding	Pathogenic
2	227032173	T	TC	A227032176C	COL4A4	NM_000092.5(COL4A4):c.3680dup:p.Lys1229fs	coding	Pathogenic
2	227042213	AT	A	T227042216C	COL4A4	NM_000092.5(COL4A4):c.3439del:p.Met1147fs	coding	Pathogenic
2	227043115	GGCCTTCCAGGTGATCCTCTGGGCCCTTGAATACCAGGCAA	G	T227043119C	COL4A4	NM_000092.5(COL4A4):c.3319_3358del:p.Leu1107fs	coding	Pathogenic
2	227043160	T	TGCTC	T227043165G	COL4A4	NM_000092.5(COL4A4):c.3310_3313dup:p.Gln1105fs	coding	Pathogenic
2	227052722	A	AC	A227052723C	COL4A4	NM_000092.5(COL4A4):c.2861-311_2861-310insG	noncoding	Benign
2	227054700	TC	T	C227054702G	COL4A4	NM_000092.5(COL4A4):c.2753del:p.Gly918fs	coding	Pathogenic
2	227056017	C	CTCCTGGA	A227056018T	COL4A4	NM_000092.5(COL4A4):c.2643_2644insTCCAGGA:p.Gly882fs	coding	Pathogenic
2	227056349	TA	T	A227056355T	COL4A4	NM_000092.5(COL4A4):c.2546-235del	noncoding	Benign
2	227056390	A	AT	G227056392T	COL4A4	NM_000092.5(COL4A4):c.2546-276dup	noncoding	Benign
2	227057446	ACCTGGAT	A	C227057447A	COL4A4	NM_000092.5(COL4A4):c.2531_2537del:p.Tyr844fs	coding	Pathogenic
2	227057506	A	ACCTGGGACCT	T227057507C	COL4A4	NM_000092.5(COL4A4):c.2477_2478insAGGTCCCAGG:p.His826fs	coding	Pathogenic
2	227057547	CCT	C	C227057552G	COL4A4	NM_000092.5(COL4A4):c.2435_2436del:p.Glu812fs	coding	Pathogenic
2	227057686	GGA	G	A227057688G	COL4A4	NM_000092.5(COL4A4):c.2384-88_2384-87del	noncoding	Benign
2	227059475	T	TC	G227059479C	COL4A4	NM_000092.5(COL4A4):c.2312dup:p.Arg773fs	coding	Pathogenic
2	227059551	GGGCCTGGGGGCCCAACAGGGGA	G	C227059554A	COL4A4	NM_000092.5(COL4A4):c.2215_2236del:p.Ser739fs	coding	Pathogenic
2	227059567	CAG	C	A227059568G	COL4A4	NM_000092.5(COL4A4):c.2219_2220del:p.Pro740fs	coding	Pathogenic
2	227059591	CA	C	A227059595C	COL4A4	NM_000092.5(COL4A4):c.2196del:p.Phe732fs	coding	Pathogenic
2	227059618	G	GAA	C227059623A	COL4A4	NM_000092.5(COL4A4):c.2168_2169dup:p.Arg724fs	coding	Pathogenic
2	227059635	CA	C	A227059644T	COL4A4	NM_000092.5(COL4A4):c.2165-13del	noncoding	Benign/Likely_benign
2	227059644	A	AT	A227059650T	COL4A4	NM_000092.5(COL4A4):c.2165-26dup	noncoding	Benign
2	227060136	C	CAGGT	G227060141A	COL4A4	NM_000092.5(COL4A4):c.2160_2163dup:p.Gly722fs	coding	Pathogenic
2	227062236	CAA	C	A227062251C	COL4A4	NM_000092.5(COL4A4):c.2056+292_2056+293del	noncoding	Benign
2	227062236	CA	C	A227062252C	COL4A4	NM_000092.5(COL4A4):c.2056+293del	noncoding	Benign
2	227062473	GT	G	T227062486A	COL4A4	NM_000092.5(COL4A4):c.2056+56del	noncoding	Benign
2	227062473	GTT	G	T227062485A	COL4A4	NM_000092.5(COL4A4):c.2056+55_2056+56del	noncoding	Benign
2	227077878	A	AT	A227077886T	COL4A4	NM_000092.5(COL4A4):c.1987+15dup	noncoding	Benign
2	227077914	TC	T	C227077915A	COL4A4	NM_000092.5(COL4A4):c.1966del:p.Asp656fs	coding	Pathogenic
2	227078018	TG	T	G227078024C	COL4A4	NM_000092.5(COL4A4):c.1862del:p.Pro621fs	coding	Pathogenic
2	227078032	GT	G	T227078033C	COL4A4	NM_000092.5(COL4A4):c.1848del:p.Pro617fs	coding	Pathogenic/Likely_pathogenic
2	227080460	C	CT	C227080466T	COL4A4	NM_000092.5(COL4A4):c.1785dup:p.Gly596fs	coding	Pathogenic/Likely_pathogenic
2	227082113	AC	A	C227082115T	COL4A4	NM_000092.5(COL4A4):c.1696+1del	noncoding	Pathogenic
2	227088798	GCA	G	C227088801G	COL4A4	NM_000092.5(COL4A4):c.1476_1477del:p.Ala493fs	coding	Pathogenic
2	227089588	C	CATAT	C227089610T	COL4A4	NM_000092.5(COL4A4):c.1459+260AT[12]	noncoding	Benign
2	227089588	C	CAT	C227089610T	COL4A4	NM_000092.5(COL4A4):c.1459+260AT[11]	noncoding	Benign
2	227089608	TAC	T	C227089610T	COL4A4	NM_000092.5(COL4A4):c.1459+258_1459+259del	noncoding	Benign
2	227089877	C	CT	G227089882T	COL4A4	NM_000092.5(COL4A4):c.1449dup:p.Gly484fs	coding	Pathogenic
2	227089886	CT	C	T227089887C	COL4A4	NM_000092.5(COL4A4):c.1440del:p.Gly481fs	coding	Pathogenic
2	227094153	TGGTGCTCCAGGCAAGCCA	T	C227094158A	COL4A4	NM_000092.5(COL4A4):c.1323_1340del:p.Pro444_Leu449del	coding	Pathogenic/Likely_pathogenic
2	227094246	AG	A	G227094248A	COL4A4	NM_000092.5(COL4A4):c.1247del:p.Pro416fs	coding	Pathogenic
2	227094258	AAATCCTTGTGGCCC	A	A227094260G	COL4A4	NM_000092.5(COL4A4):c.1222_1235del:p.Gly408fs	coding	Pathogenic/Likely_pathogenic
2	227094279	TCCTATCATGC	T	C227094281T	COL4A4	NC_000002.11:g.227958996_227959005del	coding	Pathogenic
2	227098697	C	CA	C227098699A	COL4A4	NM_000092.5(COL4A4):c.1200dup:p.Ala401fs	coding	Pathogenic
2	227098753	CCT	C	C227098754G	COL4A4	NM_000092.5(COL4A4):c.1143_1144del:p.Asp383fs	coding	Pathogenic
2	227101533	G	GA	T227101535A	COL4A4	NM_000092.5(COL4A4):c.999dup:p.Pro334fs	coding	Pathogenic
2	227101582	T	TA	G227101594A	COL4A4	NM_000092.5(COL4A4):c.976-36dup	noncoding	Benign
2	227102833	CA	C	A227102835T	COL4A4	NM_000092.5(COL4A4):c.885del:p.Ile295fs	coding	Pathogenic
2	227102885	ACAATATTTCAGCAATAGGGAAAG	A	G227102908A	COL4A4	NM_000092.5(COL4A4):c.871-60_871-38del	noncoding	Benign
2	227103114	GA	G	A227103125G	COL4A4	NM_000092.5(COL4A4):c.870+29del	noncoding	Benign
2	227103298	T	TA	T227103310A	COL4A4	NM_000092.5(COL4A4):c.817-112dup	noncoding	Benign
2	227103983	TATAGAGACAAA	T	T227103985G	COL4A4	NM_000092.5(COL4A4):c.794_804del:p.Asp264_Phe265insTer	coding	Pathogenic
2	227103985	TAG	T	G227103989C	COL4A4	NM_000092.5(COL4A4):c.801_802del:p.Leu267_Tyr268insTer	coding	Pathogenic
2	227108850	C	CT	G227108852T	COL4A4	NM_000092.5(COL4A4):c.675dup:p.Gly226fs	coding	Pathogenic/Likely_pathogenic
2	227108882	G	GA	C227108890A	COL4A4	NM_000092.5(COL4A4):c.658-15dup	noncoding	Benign
2	227109590	T	TA	C227109592A	COL4A4	NM_000092.5(COL4A4):c.595-305dup	noncoding	Benign
2	227114630	G	GA	T227114633A	COL4A4	NM_000092.5(COL4A4):c.555dup:p.Gln186fs	coding	Pathogenic
2	227120068	A	AT	G227120070T	COL4A4	NM_000092.5(COL4A4):c.328-130dup	noncoding	Benign
2	227121057	CCT	C	T227121061A	COL4A4	NM_000092.5(COL4A4):c.282_283del:p.Asp96fs	coding	Pathogenic
2	227140166	A	ACC	T227140171C	COL4A4	NM_000092.5(COL4A4):c.185_186dup:p.Ser63fs	coding	Pathogenic
2	227147411	AC	A	C227147413A	COL4A4	NM_000092.5(COL4A4):c.71+1del	noncoding	Pathogenic
2	227164742	GC	G	C227164747A	COL4A3	NM_000091.5(COL4A3):c.21del:p.Arg8fs	coding	Pathogenic
2	227237970	T	TTGTG	C227237976G	COL4A3	NM_000091.5(COL4A3):c.92_95dup:p.Lys34fs	coding	Pathogenic
2	227238026	TA	T	A227238031C	COL4A3	NM_000091.5(COL4A3):c.144+7del	noncoding	Benign
2	227238176	TA	T	A227238189G	COL4A3	NM_000091.5(COL4A3):c.144+165del	noncoding	Benign
2	227238176	T	TA	G227238190A	COL4A3	NM_000091.5(COL4A3):c.144+165dup	noncoding	Benign
2	227244909	T	TTG	T227244911G	COL4A3	NM_000091.5(COL4A3):c.280-41_280-40insGT	noncoding	Benign
2	227244910	T	TG	T227244911G	COL4A3	NM_000091.5(COL4A3):c.280-41_280-40insG	noncoding	Benign
2	227244975	TC	T	C227244976T	COL4A3	NM_000091.5(COL4A3):c.305del:p.Ser102fs	coding	Pathogenic/Likely_pathogenic
2	227246004	CA	C	A227246005G	COL4A3	NM_000091.5(COL4A3):c.376del:p.Ser126fs	coding	Pathogenic
2	227247579	CA	C	A227247583G	COL4A3	NM_000091.5(COL4A3):c.467del:p.Lys156fs	coding	Pathogenic
2	227248493	C	CG	T227248497G	COL4A3	NM_000091.5(COL4A3):c.522dup:p.Leu175fs	coding	Pathogenic
2	227251192	C	CGGGA	T227251197G	COL4A3	NM_000091.5(COL4A3):c.600_603dup:p.Phe202fs	coding	Pathogenic
2	227251326	A	AT	C227251332T	COL4A3	NM_000091.5(COL4A3):c.610-5dup	noncoding	Benign
2	227253310	AAG	A	A227253313T	COL4A3	NM_000091.5(COL4A3):c.663_664del:p.Arg221fs	coding	Pathogenic/Likely_pathogenic
2	227254119	A	AG	A227254125G	COL4A3	NM_000091.5(COL4A3):c.778dup:p.Glu260fs	coding	Pathogenic
2	227254259	G	GT	A227254271T	COL4A3	NM_000091.5(COL4A3):c.828+96dup	noncoding	Benign
2	227254259	G	GTT	A227254271T	COL4A3	NM_000091.5(COL4A3):c.828+95_828+96dup	noncoding	Benign
2	227254259	GT	G	T227254270A	COL4A3	NM_000091.5(COL4A3):c.828+96del	noncoding	Benign
2	227254690	GT	G	T227254691G	COL4A3	NM_000091.5(COL4A3):c.864del:p.Ala289fs	coding	Pathogenic
2	227256024	AG	A	G227256027A	COL4A3	NC_000002.11:g.228120741del	noncoding	Pathogenic
2	227256027	G	GA	C227256032A	COL4A3	NM_000091.5(COL4A3):c.894dup:p.Pro299fs	coding	Pathogenic
2	227256357	CAG	C	A227256358G	COL4A3	NM_000091.5(COL4A3):c.949_950del:p.Arg317fs	coding	Pathogenic/Likely_pathogenic
2	227256375	A	AAT	G227256378A	COL4A3	NM_000091.5(COL4A3):c.967_968dup:p.Met323fs	coding	Pathogenic
2	227259837	T	TCCAGG	C227259845A	COL4A3	NM_000091.5(COL4A3):c.1077_1081dup:p.Pro361fs	coding	Pathogenic
2	227261092	TC	T	C227261098G	COL4A3	NM_000091.5(COL4A3):c.1131del:p.Gly378fs	coding	Pathogenic
2	227263781	ATCATCAAGGCCTGGCC	A	T227263785G	COL4A3	NM_000091.5(COL4A3):c.1156_1171del:p.Ser386fs	coding	Pathogenic
2	227263808	CCCTGGATGGCCAGGCCTGAA	C	C227263809A	COL4A3	NM_000091.5(COL4A3):c.1180_1199del:p.Pro394fs	coding	Pathogenic
2	227263889	AG	A	G227263891T	COL4A3	NM_000091.5(COL4A3):c.1262del:p.Gly421fs	coding	Pathogenic
2	227263913	TC	T	C227263915A	COL4A3	NM_000091.5(COL4A3):c.1286del:p.Pro429fs	coding	Pathogenic
2	227263940	GC	G	C227263942A	COL4A3	NM_000091.5(COL4A3):c.1313del:p.Pro438fs	coding	Pathogenic
2	227266179	CA	C	A227266190T	COL4A3	NM_000091.5(COL4A3):c.1316-227del	noncoding	Benign
2	227270777	CA	C	A227270778G	COL4A3	NM_000091.5(COL4A3):c.1584del:p.Gly529fs	coding	Pathogenic
2	227270861	C	CG	C227270866G	COL4A3	NM_000091.5(COL4A3):c.1671dup:p.Leu558fs	coding	Pathogenic
2	227273047	A	AC	A227273052C	COL4A3	NM_000091.5(COL4A3):c.1861dup:p.Gln621fs	coding	Pathogenic
2	227273074	C	CA	C227273076A	COL4A3	NM_000091.5(COL4A3):c.1885dup:p.Thr629fs	coding	Pathogenic
2	227273093	G	GC	G227273099C	COL4A3	NM_000091.5(COL4A3):c.1908dup:p.Gly637fs	coding	Pathogenic
2	227276448	CT	C	T227276449G	COL4A3	NM_000091.5(COL4A3):c.1992del:p.Gly665fs	coding	Pathogenic/Likely_pathogenic
2	227276458	TG	T	G227276460C	COL4A3	NM_000091.5(COL4A3):c.2003del:p.Gly668fs	coding	Pathogenic
2	227277322	GAA	G	A227277339C	COL4A3	NM_000091.5(COL4A3):c.2021-110_2021-109del	noncoding	Benign
2	227277322	GA	G	A227277340C	COL4A3	NM_000091.5(COL4A3):c.2021-109del	noncoding	Benign
2	227279896	C	CA	T227279902A	COL4A3	NM_000091.5(COL4A3):c.2223+11dup	noncoding	Benign
2	227280438	AG	A	G227280441A	COL4A3	NC_000002.11:g.228145155del	noncoding	Pathogenic
2	227280549	TC	T	C227280552T	COL4A3	NM_000091.5(COL4A3):c.2336del:p.Pro779fs	coding	Pathogenic
2	227280884	CT	C	T227280888G	COL4A3	NM_000091.5(COL4A3):c.2375-5del	noncoding	Benign
2	227280954	TC	T	C227280957A	COL4A3	NM_000091.5(COL4A3):c.2439del:p.Arg814fs	coding	Pathogenic
2	227282274	A	AT	A227282275T	COL4A3	NM_000091.5(COL4A3):c.2489-91_2489-90insT	noncoding	Benign
2	227282275	A	AT	A227282276T	COL4A3	NM_000091.5(COL4A3):c.2489-90_2489-89insT	noncoding	Benign
2	227282410	GC	G	C227282411T	COL4A3	NM_000091.5(COL4A3):c.2535del:p.Leu846fs	coding	Pathogenic/Likely_pathogenic
2	227283822	G	GC	T227283828C	COL4A3	NM_000091.5(COL4A3):c.2717dup:p.Gly907fs	coding	Pathogenic
2	227283853	AG	A	G227283857T	COL4A3	NM_000091.5(COL4A3):c.2746+1del	coding	Pathogenic
2	227284298	CAG	C	G227284302T	COL4A3	NM_000091.5(COL4A3):c.2838_2839del:p.Glu946fs	coding	Pathogenic/Likely_pathogenic
2	227288951	G	GT	G227288969T	COL4A3	NM_000091.5(COL4A3):c.2882-182dup	noncoding	Benign
2	227288951	G	GTT	G227288969T	COL4A3	NM_000091.5(COL4A3):c.2882-183_2882-182dup	noncoding	Benign
2	227288951	GT	G	T227288968G	COL4A3	NM_000091.5(COL4A3):c.2882-182del	noncoding	Benign
2	227289181	CAG	C	A227289184G	COL4A3	NM_000091.5(COL4A3):c.2916_2917del:p.Gly973fs	coding	Pathogenic
2	227290003	CAGAGGAG	C	G227290005T	COL4A3	NM_000091.5(COL4A3):c.2987_2993del:p.Arg996fs	coding	Pathogenic
2	227290042	AG	A	G227290044A	COL4A3	NM_000091.5(COL4A3):c.3026del:p.Gly1009fs	coding	Pathogenic/Likely_pathogenic
2	227290085	CCA	C	C227290086G	COL4A3	NM_000091.5(COL4A3):c.3068_3069del:p.Pro1023fs	coding	Pathogenic/Likely_pathogenic
2	227293316	AG	A	G227293318T	COL4A3	NM_000091.5(COL4A3):c.3337+1del	coding	Pathogenic
2	227294944	GT	G	T227294960C	COL4A3	NM_000091.5(COL4A3):c.3419-4del	noncoding	Benign
2	227294944	GTT	G	T227294959C	COL4A3	NM_000091.5(COL4A3):c.3419-5_3419-4del	noncoding	Benign
2	227295056	GA	G	A227295059C	COL4A3	NM_000091.5(COL4A3):c.3514del:p.Thr1172fs	coding	Pathogenic
2	227295060	CG	C	G227295063T	COL4A3	NM_000091.5(COL4A3):c.3517+1del	coding	Pathogenic
2	227295290	GC	G	C227295293A	COL4A3	NM_000091.5(COL4A3):c.3542del:p.Pro1181fs	coding	Pathogenic
2	227297684	AGACAGGG	A	C227297687G	COL4A3	NM_000091.5(COL4A3):c.3579_3585del:p.Asp1193fs	coding	Pathogenic
2	227298349	C	CA	T227298359A	COL4A3	NM_000091.5(COL4A3):c.3752-324dup	noncoding	Benign
2	227298692	TC	T	C227298697T	COL4A3	NM_000091.5(COL4A3):c.3767del:p.Pro1256fs	coding	Pathogenic
2	227304119	G	GC	A227304122C	COL4A3	NM_000091.5(COL4A3):c.4130dup:p.Pro1378fs	coding	Pathogenic
2	227304382	TG	T	G227304383T	COL4A3	NM_000091.5(COL4A3):c.4153+239del	noncoding	Benign
2	227305046	TG	T	G227305048A	COL4A3	NM_000091.5(COL4A3):c.4217del:p.Gly1406fs	coding	Pathogenic
2	227307773	CA	C	A227307775C	COL4A3	NM_000091.5(COL4A3):c.4318del:p.Thr1440fs	coding	Pathogenic
2	227307864	TG	T	G227307867T	COL4A3	NM_000091.5(COL4A3):c.4410del:p.Ser1472fs	coding	Pathogenic
2	227307877	C	CT	G227307883T	COL4A3	NM_000091.5(COL4A3):c.4425dup:p.Val1476fs	coding	Pathogenic
2	227309262	AT	A	T227309264C	COL4A3	NM_000091.5(COL4A3):c.4701del:p.Pro1568fs	coding	Pathogenic
2	227309459	TACAA	T	A227309463G	COL4A3	NM_000091.5(COL4A3):c.4755+145_4755+148del	noncoding	Benign
2	227310699	CA	C	A227310709G	COL4A3	NM_000091.5(COL4A3):c.4756-67del	noncoding	Benign
2	227310843	TC	T	C227310845G	COL4A3	NM_000091.5(COL4A3):c.4825del:p.Arg1609fs	coding	Pathogenic
2	227325534	GC	G	C227325541G	MFF	NM_001277062.2(MFF):c.-153+114del	noncoding	Benign
2	227327507	A	AAGT	T227327508A	MFF	NM_001277062.2(MFF):c.-152-1171_-152-1170insAGT	noncoding	Benign
2	227329923	T	TAA	C227329935A	MFF	NM_001277062.2(MFF):c.-40-693_-40-692dup	noncoding	Benign
2	227329923	T	TA	C227329935A	MFF	NM_001277062.2(MFF):c.-40-692dup	noncoding	Benign
2	227330338	AGTATGTGT	A	A227330349G	MFF	NM_001277062.2(MFF):c.-40-277_-40-270del	noncoding	Benign
2	227340091	G	GGT	C227340110G	MFF	NM_001277062.2(MFF):c.352-200GT[10]	noncoding	Benign
2	227355987	CAAA	C	A227355988G	MFF	NM_001277062.2(MFF):c.744+227_744+229del	noncoding	Benign
2	227688222	TG	T	G227688224T	SLC19A3	NM_025243.4(SLC19A3):c.1257del:p.Ile420fs	coding	Pathogenic
2	227695611	CAAAAT	C	T227695616C	SLC19A3	NM_025243.4(SLC19A3):c.1172+273_1172+277del	noncoding	Benign
2	227695896	TG	T	G227695898T	SLC19A3	NM_025243.4(SLC19A3):c.1164del:p.Thr388_Ile389insTer	coding	Pathogenic
2	227696118	C	CT	G227696122T	SLC19A3	NM_025243.4(SLC19A3):c.980-40dup	noncoding	Benign
2	227698937	CCA	C	C227698940G	SLC19A3	NM_025243.4(SLC19A3):c.776_777del:p.Val259fs	coding	Pathogenic
2	227699231	CCA	C	C227699232A	SLC19A3	NM_025243.4(SLC19A3):c.482_483del:p.Leu161fs	coding	Pathogenic/Likely_pathogenic
2	227699288	AG	A	G227699289T	SLC19A3	NM_025243.4(SLC19A3):c.426del:p.Cys143fs	coding	Pathogenic
2	227699407	A	AC	T227699409C	SLC19A3	NM_025243.4(SLC19A3):c.307dup:p.Val103fs	coding	Pathogenic
2	227699543	CG	C	G227699547A	SLC19A3	NM_025243.4(SLC19A3):c.171del:p.Val58fs	coding	Pathogenic
2	227702207	AT	A	T227702208G	SLC19A3	NM_025243.4(SLC19A3):c.111del:p.Tyr38fs	coding	Pathogenic
2	227702255	AT	A	T227702256A	SLC19A3	NM_025243.4(SLC19A3):c.63del:p.Leu21fs	coding	Pathogenic
2	227702395	AT	A	T227702411G	SLC19A3	NM_025243.4(SLC19A3):c.-2-76del	noncoding	Benign
2	227717534	GCTCTCTTAAATTCAAACTCACCTTCCTTTTTCCCACTAGGAAGGACCTTTTCTCCATCCTTGGATTGGAATTTGGAATTCTATGCTAAAATGCCTTTTCAGTTAAAATCTGTGAACGTGGGATGTAACCATAGGAGGTGCTGGCACTTTACGGGAATCATGATTTTATTTAATCTGCGCTTCCAGAAGGCTGCAAATGGGAATTCCAGACAAACCCACTTGGGTGAATCCCAGCACGCGGGCTGCGGCGTAGGGGGAGAGCTCCTCACGCGGCTCAGAGTGTAGCCCAGGCCCGCAGAGCCAGGAACCCGCCCCCAGCTCTCCAAACCCGGGAAGAGAGAGGCGACACTGCTAAGACCGAGGGATGACGGTGCTTCTTCAATTAATTCGCCCCCCGAGATATTCTTACCTACAGAAGGGAGTGTCTGTTCACCAAATCGCTCACTTGCCGCACGACCACGCACCCGCGGCTGTCGGATGGATCCAGGCGCTCTTGGTGGGAAGGGGGCGGAGCCTGCCTGGCCCGGAGCCCGGGGCCACGCCCCCACGCTTTGCATATGCGAATCCGGGCGTCCAGACCTTTCATCCCAGTGTGGAAGCCCAGATTTTCCTGGCCCAGGGCCGGTTTTCTGGGCAGAAACAGTCAACTCTGCTGAAAGGAACAACTTAAGTAATACACTGACATTCAGCATAATGAAGCAAGAGGGCCTGAATCCAACAGCGATCGTTTGCTTTATTTACAAATATGTCCTTTCTTATGAATCCATTTATTTCTCTCCAAAAGCTTAGGAGAGAGGGCTGGCTGGCTGTCACCCCCACTCTACACATGAAGAAAGTGAGGCGGAAGGAAGTAGGCCTAGTAAATAGAGAAGCCTGGGTTTTAGTTGGGGCTCCTGGCTCCAGAGCCAGTGGTTATAATCACTCTGCACTTTTTTTTTTTAAAGGAGGTAGAGTGGGATGGTTTCCTGGCACTTTGAAAATCTGATACAAACAATTTTTTCTTTTCTTCTTCTTTTTCTTTTCTTTTCTCTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCACTACAACCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAAAAATTAACGCCCAGTTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGGCCTCGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCTGGTCTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTGAGATGGAGCCTCGCTGTTGTTGGCCCCGGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCCAGCAATTCTTCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCCCGTCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACAGCACCCGGCCACCTGGCCTCTTTTCTTTTCTTTTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTGACAAAGTCTCACTTTATCTCCCAGGCTGGAGTGCAGTGGTGCAACCCCAGCTCACTGCAACCTCAATCTCCCAGGCACACTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGCTTGCAGGTGGGTGCCACCACGTCACATTAATTTTTTTGTTTTTTTTTTTTGGTAGAGACAGAGTCTCACTATCTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAAGGATCCTCCTGCCTTGCCCGCCCAAAGTGTTGGGATTACAGGCATGAGCCACTACGCTTAGCCTGCAAAGAGTTTATATATTAAAGTGAAACTTCTTATTAAACAGAGAATTTTTTTAAAGCATTACAAGGTTCTTATTGGTTAAAATGGAAAAAATATTTTTATTTCTGTTCATCTCTTGGTGGACTTGAAAAACCCTCCCTAAAGATAAACACTGCGTGGCTTCTAAGGGCTACCAGTGGAAGTGAAATGGATTAAAACACCCCGAGGTGTCTTGGTTCTCTGTCCTACGACTCTGCGTTTTCTATTTTCATCTTCCTATGATTTGTGAAAAGTCCTGAGCTGAACCTTAGGTGTAGGAGTGCCCTGCTCATTGTGCAACCTTGCAAATTGCTGGGTCCTCCCAAAGAATATTGTGAAATTTTCTTAAAGGCTGAAGGTGTCATGATTTCCTTCACACCTCTTGAAGAAAATGAGTTCAAATTGGACCTTGAGAAGTTTACTCTGATTCTCTAATATCTCATAGCCACAGTCTAAATCAGAGAGAGATATTGAGGAATTCATTCATTCATGCATAGAAACATAAATGACACATTTGCAGATTACATGACATGACATTTGAGTTTGATCCCATACGACTGTGTGGGGAGAAGGCTGTGGATGGGGTCATAGATGACAAAAGATTGGCTGTGTGTTGATTATTGTTGACTTGGGCAGTAGTTCTTAGAAACTGATTGCACTATTTTCCATTTTTGTATATGTTTATTTTCCATAATACAAAATTGTTTTAAAATCATTTATTCTGACTGGGCACAGTGGCTAATGCCTGTAATATAGCACTTTGGGGAGCCGAGGTGGGTGCATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGTGAGACCCTGTCTCTACAAAAATACAAAAATTACCCAGACGTGGTAGCATGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAGATTGGCTTGAGCCTAAAGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGAGTGACAGAGCCAGACCCTGTCTCAAATAAACCCATACACAAAAAAGAAAAAAAAATCATTTGTTCATTAAGAAGTTATTTATTGAGTAACTATGTGCCAGACACTGTCCTAGGTGCTTGGGATACATTCGTGAACAAAGCTAAAAATCTCTGCCTTGTAATTTACATTCTAGCTTGGGATGGGGTATATAGAGGGAACATAAATAGTAAACATGATGAGTTAGTGAATTTTATAGTGTGTTAGAAAGTGGTAAGTGCCGTGGATCCCACTGAGAAGAGGATGGAGAAGATGACTAAGCCTGAGGCTTGGAGCTCCAACTTGGGAAAGAACCTACAGGGAGGCTGAATGAGAACAGTAGGAGAGGGAGCCATAGTGTATTAGGGAGTTGCTCAACACTGTGTACCTCCCTATTATACTTCCTCTTGCACTGTTACTAAAAAATGTGGCTGCAATTATGTCCATGAAAACCTATACAAGGCCAGGCATGGTAGCTCACGCCTGTAATCCCAGGTGAGTAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATGCAAAAATTAGCCAGGCGTGGCGGCACACCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTCTATTTGAATAGTTGATATAGGAGTGGAGAAAAGGTGGCCAGGCAAAGAAAATCTCACATTAGGATTACTGCAAGTAGGCTAATTTATCTGTTTCACTCTTAAATGTTAACTCTTTGAAGGCAAATATTTGTTTAGTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGTGTTGCCCAGGCTGTAGTGTAATGGGTCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGCACCTGCCACTACGGCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGTCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTGCCCGCCTCGATCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCACCTGGCCTTATCTTTAGATTTCTATCTTGGCTGGATAACTGGCCTAATAGAGCAGCCACATATTTGCTGAGTGAATGAGTAAAAAACACATAGAGAGTTGGAGAGAAGCTGTGACCTGCCGTACTGGGACCATCCAACACTCCCAATCATAAATCAGTTGCAGATGTTGGAGCTCATAAACCGATAACACAAAATACAGTGCCTTGAGATACCGAACTGCAGAAGCCTAAGGGTCTGTCTGATCTCCCCGACAAGGTCTCTTCTGAAGAAGCTGAAGTCTTCTGTCTGCCTAAGATCTAGACCCACCAAGGGGAACTATGGTTTTTCCTTCCCCTCCTTGTAAGAGTAAGAATGTAACCACACTTGAATAGACCCTCTCACAGTCAAAGAGAACTACTTACAAATTAATCTCAGTACCTGATCCTTTATTGTCCTTCAGCAGAATTCCTCTTCTTCCTCCTCCCATAATGTGTTTAGCCAGGCTGGTAGATTGAAGGGGGCCAGCCTCTCCACACCTGTGGGTATTTCTCGTTCATCTCTTGGTGGGACGAGAGACTGAGAAAAGAAATACGACACAGAGACAAAGTATAGAGAAAGAACACTGGGCCCAGGGGACCGGCGCTCAGCATAC	G	C227717535G	SLC19A3	NM_025243.3(SLC19A3):c.-4404_-3+408del	noncoding	Pathogenic
2	229768856	T	TAAATC	T229768861C	TRIP12	NM_001348323.3(TRIP12):c.5904-138_5904-137insATTTG	noncoding	Benign
2	229777384	T	TA	C229777386A	TRIP12	NM_001348323.3(TRIP12):c.5459dup:p.Ala1821fs	coding	Pathogenic
2	229778581	TG	T	G229778583C	TRIP12	NM_001348323.3(TRIP12):c.5215del:p.Gln1739fs	coding	Pathogenic
2	229787504	CT	C	T229787511C	TRIP12	NM_001348323.3(TRIP12):c.4995del:p.Lys1665fs	noncoding	Pathogenic
2	229787828	TC	T	C229787830T	TRIP12	NM_001348323.3(TRIP12):c.4839-168del	noncoding	Benign
2	229788909	CT	C	T229788910A	TRIP12	NM_001348323.3(TRIP12):c.4726del:p.Ser1576fs	coding	Pathogenic
2	229788953	TA	T	A229788965G	TRIP12	NM_001348323.3(TRIP12):c.4696-14del	noncoding	Benign
2	229788953	T	TA	G229788966A	TRIP12	NM_001348323.3(TRIP12):c.4696-25dup	noncoding	Benign
2	229789637	TGATAGCATGTAAAACTCTTAAAA	T	T229789640A	TRIP12	NM_001348323.3(TRIP12):c.4646_4668del:p.Leu1549fs	coding	Pathogenic
2	229790897	GT	G	T229790904C	TRIP12	NM_001348323.3(TRIP12):c.4543+226del	noncoding	Benign
2	229791977	TAC	T	C229791981G	TRIP12	NM_001348323.3(TRIP12):c.4302_4303del:p.Tyr1435fs	coding	Pathogenic
2	229796627	TC	T	C229796628T	TRIP12	NM_001348323.3(TRIP12):c.3779del:p.Arg1260fs	coding	Pathogenic
2	229796945	AAC	A	A229796962T	TRIP12	NM_001348323.3(TRIP12):c.3625-181GT[8]	noncoding	Benign
2	229807825	T	TA	G229807826A	TRIP12	NM_001348323.3(TRIP12):c.2378_2379insT:p.Val794fs	coding	Pathogenic
2	229810982	T	TA	C229810983A	TRIP12	NM_001348323.3(TRIP12):c.2118_2119insT:p.Thr707fs	coding	Pathogenic
2	229813998	AT	A	T229814000C	TRIP12	NM_001348323.3(TRIP12):c.1857del:p.Glu619fs	coding	Pathogenic
2	229815519	TA	T	A229815520T	TRIP12	NM_001348323.3(TRIP12):c.1600-212del	noncoding	Benign
2	229840800	TA	T	A229840813C	TRIP12	NM_001348323.3(TRIP12):c.1133+21del	noncoding	Benign
2	229840800	T	TA	C229840814A	TRIP12	NM_001348323.3(TRIP12):c.1133+9dup	noncoding	Benign
2	229859399	G	GT	G229859407T	TRIP12	NM_001348323.3(TRIP12):c.399dup:p.Pro134fs	coding	Pathogenic
2	230170715	AG	A	G230170717T	SP110	NM_080424.4(SP110):c.1933del:p.Leu645fs	coding	Pathogenic
2	230172102	CTTAG	C	T230172103A	SP110	NM_080424.4(SP110):c.1775_1778del:p.Val591_Ser592insTer	coding	Pathogenic
2	230178174	TTA	T	T230178179A	SP110	NM_080424.4(SP110):c.1428_1429del:p.Tyr476_Lys477delinsTer	coding	Pathogenic
2	230178241	C	CA	C230178243A	SP110	NM_080424.4(SP110):c.1362dup:p.Asp455Ter	coding	Pathogenic
2	230200894	CCCTT	C	C230200896G	SP110	NM_080424.4(SP110):c.1116_1119del:p.Arg373fs	coding	Pathogenic
2	230211521	CT	C	T230211522C	SP110	NM_080424.4(SP110):c.699del:p.Asp234fs	coding	Pathogenic
2	231208234	C	CA	T231208238A	ARMC9	NM_001352754.2(ARMC9):c.162dup:p.Ser55fs	coding	Pathogenic
2	231222761	AT	GA	A231222761G	ARMC9	NM_001352754.2(ARMC9):c.538_539delinsGA:p.Ile180Glu	coding	Benign
2	231222796	CA	C	A231222797C	ARMC9	NM_001352754.2(ARMC9):c.574del:p.Thr192fs	coding	Pathogenic
2	231222826	C	CT	G231222831T	ARMC9	NM_001352754.2(ARMC9):c.597+10dup	noncoding	Benign
2	231256577	T	TC	A231256584C	ARMC9	NM_001352754.2(ARMC9):c.880-3dup	noncoding	Benign
2	231262294	TC	GA	T231262294G	ARMC9	NM_001352754.2(ARMC9):c.1027-12_1027-11inv	noncoding	Benign
2	231276718	G	GA	C231276720A	ARMC9	NM_001352754.2(ARMC9):c.1418dup:p.Asp473fs	coding	Pathogenic
2	231278389	CAT	C	A231278390G	ARMC9	NM_001352754.2(ARMC9):c.1483_1484del:p.Met495fs	coding	Pathogenic
2	231278407	AG	A	G231278409C	ARMC9	NM_001352754.2(ARMC9):c.1502del:p.Gly501fs	coding	Pathogenic
2	231278417	C	CTT	C231278419T	ARMC9	NM_001352754.2(ARMC9):c.1511_1512insTT:p.Lys505fs	coding	Pathogenic
2	231282038	GT	G	T231282045C	ARMC9	NM_001352754.2(ARMC9):c.1552-14del	noncoding	Benign
2	231360823	C	CG	A231360828G	ARMC9	NM_001352754.2(ARMC9):c.2205dup:p.Thr736fs	coding	Benign
2	231456145	G	GA	T231456155A	NCL	NM_005381.3(NCL):c.1706-18dup	noncoding	Benign
2	231737190	A	AC	A231737191C	PDE6D	NM_002601.4(PDE6D):c.367_368insG:p.Leu123fs	coding	Pathogenic/Likely_pathogenic
2	231739124	AC	A	C231739125A	PDE6D	NM_002601.4(PDE6D):c.114del:p.Ser39fs	coding	Pathogenic
2	231739172	GA	G	A231739174G	PDE6D	NM_002601.4(PDE6D):c.66del:p.Arg23fs	coding	Pathogenic
2	232014970	AC	A	C232014975A	DIS3L2	NM_152383.5(DIS3L2):c.48del:p.Arg17fs	coding	Pathogenic/Likely_pathogenic
2	232014984	TA	T	A232014988G	DIS3L2	NM_152383.5(DIS3L2):c.52+9del	noncoding	Benign
2	232015545	TG	T	G232015547T	DIS3L2	NM_152383.5(DIS3L2):c.86del:p.Gly29fs	coding	Pathogenic
2	232024261	A	AT	G232024268T	DIS3L2	NM_152383.5(DIS3L2):c.211-10dup	noncoding	Benign
2	232024329	CG	C	G232024331T	DIS3L2	NM_152383.5(DIS3L2):c.264+1del	coding	Pathogenic
2	232029994	A	AT	A232030000T	DIS3L2	NM_152383.5(DIS3L2):c.285dup:p.Ile96fs	coding	Pathogenic
2	232087492	TA	T	A232087495C	DIS3L2	NM_152383.5(DIS3L2):c.375del:p.Lys125fs	coding	Pathogenic
2	232263320	G	GC	A232263327C	DIS3L2	NM_152383.5(DIS3L2):c.1545dup:p.Ile516fs	coding	Pathogenic
2	232263451	G	GT	A232263459T	DIS3L2	NM_152383.5(DIS3L2):c.1659+18dup	noncoding	Benign
2	232329928	AGTGACCTG	A	A232329932G	DIS3L2	NM_152383.5(DIS3L2):c.1859_1866del:p.Asp620fs	coding	Pathogenic
2	232329951	CCAGA	C	C232329952T	DIS3L2	NM_152383.5(DIS3L2):c.1879_1882del:p.Gln627fs	coding	Pathogenic
2	232334427	TA	T	A232334429C	DIS3L2	NM_152383.5(DIS3L2):c.2219del:p.Asn740fs	coding	Pathogenic
2	232480823	CAG	C	A232480828C	ECEL1	NM_004826.4(ECEL1):c.2056-16CT[2]	noncoding	Benign
2	232481671	GC	G	C232481676T	ECEL1	NM_004826.4(ECEL1):c.1865-42del	noncoding	Benign
2	232481842	TGA	T	G232481847C	ECEL1	NM_004826.4(ECEL1):c.1802_1803del:p.Leu601fs	coding	Pathogenic
2	232482863	AC	A	C232482865T	ECEL1	NM_004826.4(ECEL1):c.1672del:p.Val558fs	coding	Pathogenic
2	232486573	GC	G	C232486579G	ECEL1	NM_004826.4(ECEL1):c.80del:p.Gly27fs	coding	Pathogenic
2	232521440	GC	G	C232521446G	PRSS56	NM_001195129.2(PRSS56):c.205+18del	noncoding	Benign
2	232521825	GC	G	C232521829A	PRSS56	NM_001195129.2(PRSS56):c.219del:p.Arg74fs	coding	Pathogenic
2	232525264	TG	T	G232525267T	PRSS56	NM_001195129.2(PRSS56):c.1573del:p.Val525fs	coding	Pathogenic
2	232526562	TC	T	C232526564G	CHRND	NM_000751.3(CHRND):c.88del:p.Arg30fs	coding	Pathogenic
2	232527310	A	AAG	T232527335A	CHRND	NM_000751.3(CHRND):c.199-90AG[13]	noncoding	Benign
2	232531264	GGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT	G	G232531300A	CHRND	NM_000751.3(CHRND):c.821-52_821-18del	noncoding	Benign/Likely_benign
2	232539624	C	CGGGCTGGCT	G232539646C	CHRNG	Single_allele	noncoding	Benign
2	232540424	TG	T	G232540426T	CHRNG	NM_005199.5(CHRNG):c.240+1del	coding	Pathogenic
2	232541095	CTATTATTAT	C	T232541111G	CHRNG	NM_005199.5(CHRNG):c.351-278TAT[5]	noncoding	Benign
2	232542869	T	TGCCTGCCC	A232542880C	CHRNG	NM_005199.5(CHRNG):c.605-10_605-3dup	noncoding	Benign
2	232543281	GC	G	C232543283A	CHRNG	NM_005199.5(CHRNG):c.814del:p.Gln272fs	coding	Pathogenic
2	232543480	A	AC	A232543489C	CHRNG	NM_005199.5(CHRNG):c.921-97dup	noncoding	Benign
2	232543480	A	ACCC	A232543489C	CHRNG	NM_005199.5(CHRNG):c.920+97_921-97dup	noncoding	Benign
2	232543480	AC	A	C232543488A	CHRNG	NM_005199.5(CHRNG):c.921-97del	noncoding	Benign
2	232545362	CA	C	A232545363G	CHRNG	NM_005199.5(CHRNG):c.1381-180del	noncoding	Benign
2	232768832	A	AT	A232768842T	KCNJ13	NM_002242.4(KCNJ13):c.461-28dup	noncoding	Benign
2	232787427	T	TG	T232787429G	GIGYF2	NM_001103146.3(GIGYF2):c.712+99dup	noncoding	Benign
2	232844199	A	AAGC	A232844222G	GIGYF2	NM_001103146.3(GIGYF2):c.3045GCA[8]:p.Gln1022dup	coding	Benign
2	232847516	CACA	C	A232847517G	GIGYF2	NM_001103146.3(GIGYF2):c.3630_3632del:p.Gln1216del	coding	Benign
2	232847613	T	TA	C232847615A	GIGYF2	NM_001103146.3(GIGYF2):c.3684+43dup	noncoding	Benign
2	233318786	GGAAA	G	A233318792G	SAG	NM_000541.5(SAG):c.178_181del:p.Lys60fs	coding	Pathogenic
2	233326898	C	CT	C233326899T	SAG	NM_000541.5(SAG):c.436-223_436-222insT	noncoding	Benign
2	233328580	GC	G	C233328584T	SAG	NM_000541.5(SAG):c.619del:p.Leu207fs	coding	Pathogenic
2	233329537	CAATAACACAG	C	A233329539G	SAG	NM_000541.5(SAG):c.695_704del:p.Asn232fs	coding	Pathogenic
2	233335010	G	GC	T233335014C	SAG	NM_000541.5(SAG):c.858dup:p.Leu288fs	coding	Pathogenic
2	233340751	TTG	T	G233340769T	SAG	NM_000541.5(SAG):c.1046+274TG[8]	noncoding	Benign
2	233342123	C	CA	G233342141A	SAG	NM_000541.5(SAG):c.1047-131dup	noncoding	Benign
2	233342259	CT	C	T233342266C	SAG	NM_000541.5(SAG):c.1047-5del	noncoding	Benign
2	233682328	CG	AA	C233682328A	UGT1A10;UGT1A7;UGT1A8;UGT1A;UGT1A9	NM_019075.4(UGT1A10):c.855+44951_855+44952delinsAA	coding	Benign
2	233760358	T	TG	T233760360G	UGT1A1	NM_000463.3(UGT1A1):c.72dup:p.Ser25fs	coding	Pathogenic
2	233760364	ATGCTGGGAAGATAC	A	C233760367T	UGT1A1	NM_000463.3(UGT1A1):c.80_93del:p.Ala27fs	coding	Pathogenic
2	233760553	AAG	A	A233760556T	UGT1A1	NM_000463.3(UGT1A1):c.269_270del:p.Glu90fs	coding	Pathogenic
2	233760666	T	TGG	T233760668G	covers_10_genes,_none_of_which_curated_to_show_dosage_sensitivity	NM_000463.3(UGT1A1):c.380_381insGG:p.Cys127fs	coding	Pathogenic
2	233760674	C	CT	A233760677T	covers_10_genes,_none_of_which_curated_to_show_dosage_sensitivity	NM_000463.3(UGT1A1):c.389dup:p.Leu130fs	coding	Pathogenic
2	233760777	CTG	C	G233760779C	UGT1A1	NM_000463.3(UGT1A1):c.492_493del:p.Leu166fs	coding	Pathogenic
2	233760894	CACATGACCTTCCTGCAGCGGGTGA	C	C233760896G	UGT1A1	NM_000463.3(UGT1A1):c.609_632del:p.His203_Lys211delinsGln	coding	Pathogenic/Likely_pathogenic
2	233760963	G	GT	A233760967T	UGT1A1	NM_000463.3(UGT1A1):c.679dup:p.Tyr227fs	coding	Pathogenic
2	233761011	GT	G	T233761012G	UGT1A1	NM_000463.3(UGT1A1):c.725del:p.Val242fs	coding	Pathogenic
2	233767098	TG	T	G233767100T	covers_10_genes,_none_of_which_curated_to_show_dosage_sensitivity	NM_000463.3(UGT1A1):c.931del:p.Val311fs	coding	Pathogenic
2	233767747	C	CTG	T233767751G	UGT1A8	NM_019076.5(UGT1A8):c.988-100_988-99dup	noncoding	Benign
2	233767893	CA	C	A233767895C	UGT1A1	NM_000463.3(UGT1A1):c.1043del:p.Asn348fs	coding	Pathogenic
2	233768353	TA	T	A233768355G	UGT1A1	NM_000463.3(UGT1A1):c.1220del:p.Lys407fs	coding	Pathogenic
2	234060493	C	CT	G234060496T	SPP2	NM_006944.3(SPP2):c.444+16dup	noncoding	Benign
2	235852770	C	CCAGG	G235852775C	AGAP1	NM_001037131.3(AGAP1):c.1051-30574_1051-30571dup	coding	Benign
2	237334691	T	TGGTA	T237334696G	COL6A3	NM_004369.4(COL6A3):c.9160_9163dup:p.His3055fs	coding	Pathogenic
2	237339100	AG	A	G237339101T	COL6A3	NM_004369.4(COL6A3):c.8481del:p.Leu2828fs	coding	Pathogenic
2	237344635	AG	A	G237344636C	COL6A3	NM_004369.4(COL6A3):c.7382del:p.Ala2461fs	coding	Pathogenic
2	237344939	AC	A	C237344941G	COL6A3	NM_004369.4(COL6A3):c.7174+1del	noncoding	Pathogenic
2	237345193	GC	G	C237345197T	COL6A3	NM_004369.4(COL6A3):c.7112del:p.Gly2371fs	coding	Pathogenic
2	237345217	T	TA	C237345222A	COL6A3	NM_004369.4(COL6A3):c.7093-5dup	noncoding	Benign
2	237345475	ATGTAAAGCCCACGAGTGAACC	A	T237345478G	COL6A3	NM_004369.4(COL6A3):c.7093-283_7093-263del	noncoding	Benign
2	237348242	AGT	A	T237348244G	COL6A3	NM_004369.4(COL6A3):c.6966+105_6966+106del	noncoding	Benign
2	237348393	G	GA	T237348399A	COL6A3	NM_004369.4(COL6A3):c.6931-10dup	noncoding	Benign
2	237359360	ACC	A	C237359361T	COL6A3	NM_004369.4(COL6A3):c.6309_6309+1del	noncoding	Pathogenic
2	237361737	AC	GA	A237361737G	COL6A3	NM_004369.4(COL6A3):c.6156+1_6156+2delinsTC	noncoding	Pathogenic
2	237361780	G	GC	A237361784C	COL6A3	NM_004369.4(COL6A3):c.6114dup:p.Gln2039fs	coding	Pathogenic
2	237363143	GC	G	C237363153A	COL6A3	NM_004369.4(COL6A3):c.6063+109del	noncoding	Benign
2	237363239	T	TAA	C237363248A	COL6A3	NM_004369.4(COL6A3):c.6063+12_6063+13dup	noncoding	Benign
2	237368844	A	AC	G237368849C	COL6A3	NM_004369.4(COL6A3):c.4618dup:p.Val1540fs	coding	Pathogenic
2	237378765	CA	C	A237378767T	COL6A3	NM_004369.4(COL6A3):c.2367del:p.Ile789fs	coding	Pathogenic
2	237379251	G	GA	G237379260A	COL6A3	NM_004369.4(COL6A3):c.1898-17dup	noncoding	Benign
2	237388203	C	CA	T237388210A	COL6A3	NM_004369.4(COL6A3):c.710-20dup	noncoding	Benign/Likely_benign
2	237394896	CA	C	A237394897G	COL6A3	NM_004369.4(COL6A3):c.399del:p.Ala134fs	coding	Pathogenic
2	237395112	GA	G	A237395115C	COL6A3	NM_004369.4(COL6A3):c.183del:p.Leu62fs	coding	Pathogenic
2	237395208	T	TA	G237395216A	COL6A3	NM_004369.4(COL6A3):c.92-5dup	noncoding	Benign
2	237397017	TGATA	T	G237397054A	COL6A3	NM_004369.4(COL6A3):c.-30-210TATC[9]	noncoding	Benign
2	237397017	T	TGATA	A237397058G	COL6A3	NM_004369.4(COL6A3):c.-30-210TATC[11]	noncoding	Benign
2	237397017	T	TGATAGATA	A237397058G	COL6A3	NM_004369.4(COL6A3):c.-30-210TATC[12]	noncoding	Benign
2	237397017	T	TGATAGATAGATA	A237397058G	COL6A3	NM_004369.4(COL6A3):c.-30-210TATC[13]	noncoding	Benign
2	237397139	A	AGAAGG	A237397154G	COL6A3	NM_004369.4(COL6A3):c.-30-302CCTTC[3]	noncoding	Benign
2	237511267	CT	C	T237511284A	MLPH	NM_024101.7(MLPH):c.445+183del	noncoding	Benign
2	237552443	GT	G	T237552447C	MLPH	NM_024101.7(MLPH):c.1776+10del	noncoding	Benign
2	238320563	GC	G	C238320564G	TRAF3IP1	NM_015650.4(TRAF3IP1):c.-99del	noncoding	Benign
2	238334078	G	GT	G238334093T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1063+57dup	noncoding	Benign
2	238334078	G	GTT	G238334093T	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1063+56_1063+57dup	noncoding	Benign
2	239055001	T	TTATTA	A239055005T	HDAC4	NM_001378414.1(HDAC4):c.3004-169_3004-168insATATA	noncoding	Benign
2	239084458	TGC	T	G239084465A	HDAC4	NM_001378414.1(HDAC4):c.2445-224GC[3]	noncoding	Benign
2	239084465	G	GCA	G239084490C	HDAC4	NM_001378414.1(HDAC4):c.2445-247TG[13]	noncoding	Benign
2	239087874	G	GC	T239087877C	HDAC4	NM_001378414.1(HDAC4):c.2389-262dup	noncoding	Benign
2	239090431	CT	C	T239090451A	HDAC4	NM_001378414.1(HDAC4):c.2281-316del	noncoding	Benign
2	239090431	CTT	C	T239090450A	HDAC4	NM_001378414.1(HDAC4):c.2281-317_2281-316del	noncoding	Benign
2	239095279	TG	T	G239095281T	HDAC4	NM_001378414.1(HDAC4):c.2234-224del	noncoding	Benign
2	239139817	TG	T	G239139819T	HDAC4	NM_001378414.1(HDAC4):c.866-22del	noncoding	Benign
2	239156891	GAC	G	A239156896C	HDAC4	NM_001378414.1(HDAC4):c.612-124GT[2]	noncoding	Benign
2	239190174	C	CG	T239190185G	HDAC4	NM_001378414.1(HDAC4):c.95-107dup	noncoding	Benign
2	239190181	G	GC	G239190182C	HDAC4	NM_001378414.1(HDAC4):c.95-105_95-104insG	noncoding	Benign
2	239236358	G	GA	C239236367A	HDAC4	NM_001378414.1(HDAC4):c.94+227dup	noncoding	Benign
2	239236833	A	AAGAAAATCAAAGATCCTT	T239236834A	HDAC4	NM_001378414.1(HDAC4):c.23-170_23-169insAAGGATCTTTGATTTTCT	noncoding	Benign
2	239959194	A	AT	C239959195T	NDUFA10	NM_004544.4(NDUFA10):c.*1923_*1924insA	noncoding	Benign/Likely_benign
2	239959200	ACACAGGGGATGATCAGAG	A	A239959204C	NDUFA10	NM_004544.4(NDUFA10):c.*1900_*1917del	noncoding	Benign
2	240025092	A	AG	T240025097G	NDUFA10	NM_004544.4(NDUFA10):c.75+131dup	noncoding	Benign
2	240595094	G	GA	C240595097A	CAPN10	NM_023083.4(CAPN10):c.1070dup:p.Asn357fs	coding	Pathogenic
2	240722496	AG	A	G240722500T	KIF1A	NM_001244008.2(KIF1A):c.4624del:p.Leu1542fs	coding	Pathogenic
2	240722591	CG	C	G240722594A	KIF1A	NM_001244008.2(KIF1A):c.4529del:p.Pro1510fs	coding	Pathogenic
2	240724931	CGGCGGGGGGGGGG	C	C240724934G	KIF1A	NM_001244008.2(KIF1A):c.4256+327_4256+339del	noncoding	Benign
2	240746167	TC	T	C240746168G	KIF1A	NM_001244008.2(KIF1A):c.3073del:p.Glu1025fs	coding	Pathogenic
2	240750805	G	GC	G240750809C	KIF1A	NM_001244008.2(KIF1A):c.2859-261dup	noncoding	Benign
2	240757408	GTCC	G	C240757420A	KIF1A	NM_001244008.2(KIF1A):c.2757GGA[3]:p.Glu922del	coding	Benign
2	240757423	ATCCTCCTCCTCC	A	T240757445C	KIF1A	NM_001244008.2(KIF1A):c.2721GGA[7]:p.Glu914_Glu917del	coding	Benign/Likely_benign
2	240760837	ATT	A	T240760838G	KIF1A	NM_001244008.2(KIF1A):c.2270_2271del:p.Gln757fs	coding	Pathogenic
2	240763097	AG	A	G240763102C	KIF1A	NM_001244008.2(KIF1A):c.1950-7del	noncoding	Benign
2	240766722	A	ATC	A240766751T	KIF1A	NM_001244008.2(KIF1A):c.1684+165GA[15]	noncoding	Benign
2	240766743	T	TCACACACA	T240766745A	KIF1A	NM_001244008.2(KIF1A):c.1684+171_1684+172insGTGTGTGT	noncoding	Benign
2	240766743	T	TCACACA	T240766745A	KIF1A	NM_001244008.2(KIF1A):c.1684+171_1684+172insGTGTGT	noncoding	Benign
2	240767313	CG	C	G240767316T	KIF1A	NM_001244008.2(KIF1A):c.1529del:p.Pro510fs	coding	Pathogenic
2	240774228	AA	GG	A240774228G	KIF1A	NM_001244008.2(KIF1A):c.991_992delinsCC:p.Leu331Pro	coding	Pathogenic
2	240774391	A	AC	A240774403C	KIF1A	NM_001244008.2(KIF1A):c.959-141dup	noncoding	Benign
2	240774391	AC	A	C240774402A	KIF1A	NM_001244008.2(KIF1A):c.959-131del	noncoding	Benign
2	240774391	ACC	A	C240774401A	KIF1A	NM_001244008.2(KIF1A):c.959-132_959-131del	noncoding	Benign
2	240783042	AC	A	C240783044A	KIF1A	NM_001244008.2(KIF1A):c.864+1del	noncoding	Pathogenic
2	240783090	TTGTTGA	T	A240783096G	KIF1A	NM_001244008.2(KIF1A):c.812_817del:p.Ile271_Asn272del	coding	Pathogenic
2	240784816	CG	C	G240784826A	KIF1A	NM_001244008.2(KIF1A):c.720+172del	noncoding	Benign
2	240785190	C	CG	C240785199G	KIF1A	NM_001244008.2(KIF1A):c.609-98dup	noncoding	Benign
2	240868891	C	CA	C240868892A	AGXT	NM_000030.3(AGXT):c.26_27insA:p.Lys12fs	coding	Pathogenic
2	240868980	G	GCA	G240868983C	AGXT	NM_000030.3(AGXT):c.116_117dup:p.Ala40fs	coding	Pathogenic/Likely_pathogenic
2	240869074	T	TCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	G240869089A	AGXT	NM_000030.3(AGXT):c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC	noncoding	Benign
2	240869074	T	TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	C240869114T	AGXT	NM_000030.3(AGXT):c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	noncoding	Benign
2	240869408	AGGCCTCCCT	A	G240869418C	AGXT	NM_000030.3(AGXT):c.358+56_358+64del	noncoding	Benign
2	240871432	C	CA	G240871433A	AGXT	NM_000030.3(AGXT):c.507_508insA:p.Gly170fs	coding	Pathogenic
2	240873025	A	AC	T240873032C	AGXT	NM_000030.3(AGXT):c.577dup:p.Leu193fs	coding	Pathogenic/Likely_pathogenic
2	240874023	CT	C	T240874024C	AGXT	NM_000030.3(AGXT):c.642del:p.Pro215fs	coding	Pathogenic
2	240874054	CAAGG	C	A240874055C	AGXT	NM_000030.3(AGXT):c.673_676del:p.Lys225fs	coding	Pathogenic/Likely_pathogenic
2	240875949	TC	T	C240875953G	AGXT	NM_000030.3(AGXT):c.795del:p.Val266fs	coding	Pathogenic
2	240875973	TGA	T	A240875981C	AGXT	NM_000030.3(AGXT):c.823_824del:p.Ser275fs	coding	Pathogenic
2	240875987	GC	G	C240875990T	AGXT	NM_000030.3(AGXT):c.832del:p.Leu278fs	coding	Pathogenic
2	240877641	G	GC	T240877646C	AGXT	NM_000030.3(AGXT):c.942+13dup	noncoding	Benign
2	240878054	TG	T	G240878055T	AGXT	NM_000030.3(AGXT):c.976del:p.Val326fs	coding	Pathogenic/Likely_pathogenic
2	241217938	CG	C	G241217943C	ANO7	NM_001370694.2(ANO7):c.2178+52del	noncoding	Benign
2	241223950	TCA	T	C241223951G	ANO7	NM_001370694.2(ANO7):c.2579_2580del:p.Gly859_Ser860insTer	coding	Benign
2	241680238	ACCGGTGAAGGCCACACCAGAAAATGCGTATCTGT	A	G241680241A	DTYMK	NM_012145.4(DTYMK):c.287_320del:p.Asp96fs	coding	Pathogenic
2	241741107	CG	C	G241741109C	D2HGDH	NM_152783.5(D2HGDH):c.350+19del	noncoding	Benign
2	241744972	A	ACCC	G241744979C	D2HGDH	NM_152783.5(D2HGDH):c.853+99_853+101dup	noncoding	Benign
2	241744972	A	ACC	G241744979C	D2HGDH	NM_152783.5(D2HGDH):c.853+100_853+101dup	noncoding	Benign
2	241750301	AC	A	C241750307A	D2HGDH	NM_152783.5(D2HGDH):c.997+13del	noncoding	Benign
2	241852038	T	TG	T241852045G	PDCD1	NM_005018.3(PDCD1):c.593-61dup	noncoding	Benign
2	241853266	GT	G	T241853268C	PDCD1	NM_005018.3(PDCD1):c.77-287del	noncoding	Benign
2	241858521	G	GCTGCCCAAACTTTGGGCAGTCAC	G241858531C	PDCD1	NM_005018.3(PDCD1):c.76+241_76+242insTTTGGGCAGGTGACTGCCCAAAG	noncoding	Benign
3	3054271	G	GC	A3054276C	CNTN4	NM_175607.3(CNTN4):c.2980+300dup	noncoding	Benign
3	3129072	CAGTGCTGAACCGTA	C	A3129073G	TRNT1	NM_182916.3(TRNT1):c.33_46del:p.Leu13fs	coding	Pathogenic
3	3137329	T	TGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA	A3137330G	TRNT1	NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA:p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer	coding	Pathogenic
3	3137347	AT	A	T3137351G	TRNT1	NM_182916.3(TRNT1):c.240del:p.Phe80fs	coding	Pathogenic
3	3137373	CAAAT	C	A3137374G	TRNT1	NM_182916.3(TRNT1):c.263_266del:p.Gln88fs	coding	Pathogenic
3	3140590	AACTG	A	A3140595G	TRNT1	NM_182916.3(TRNT1):c.428_431del:p.Asp143fs	coding	Pathogenic
3	3140608	T	TG	C3140610G	TRNT1	NM_182916.3(TRNT1):c.442dup:p.Ala148fs	coding	Pathogenic
3	3144596	CTTTA	C	A3144600G	TRNT1	NM_182916.3(TRNT1):c.498_501del:p.Phe167fs	coding	Pathogenic/Likely_pathogenic
3	3144641	AAGTT	A	T3144644A	TRNT1	NM_182916.3(TRNT1):c.542_545del:p.Val181fs	coding	Pathogenic/Likely_pathogenic
3	3146442	AAT	A	A3146443T	TRNT1	NM_182916.3(TRNT1):c.622_623del:p.Ile208fs	coding	Pathogenic
3	3146530	AG	A	G3146532A	TRNT1	NM_182916.3(TRNT1):c.711del:p.Ile238fs	coding	Pathogenic
3	3146598	TG	T	G3146599A	TRNT1	NM_182916.3(TRNT1):c.778del:p.Asp260fs	coding	Pathogenic
3	3147454	AC	A	C3147456T	TRNT1	NM_182916.3(TRNT1):c.809del:p.Pro270fs	coding	Pathogenic
3	3147493	T	TA	T3147499A	TRNT1	NM_182916.3(TRNT1):c.851dup:p.Asn284fs	coding	Pathogenic
3	3147616	CTTAT	C	T3147621A	TRNT1	NM_182916.3(TRNT1):c.974_977del:p.Leu324_Phe325insTer	coding	Pathogenic
3	3147641	GATTT	G	T3147643A	TRNT1	NM_182916.3(TRNT1):c.996_999del:p.Asp332fs	coding	Pathogenic
3	3147699	TAGATGTA	T	A3147702T	TRNT1	NM_182916.3(TRNT1):c.1055_1056+5del	coding	Pathogenic
3	3147700	A	AT	G3147701T	TRNT1	NM_182916.3(TRNT1):c.1053_1054insT:p.Asp352Ter	coding	Pathogenic
3	3148025	CATCAGAA	C	T3148027A	TRNT1	NM_182916.3(TRNT1):c.1178_1184del:p.Ile393fs	coding	Pathogenic
3	3148036	TG	T	G3148039C	TRNT1	NM_182916.3(TRNT1):c.1190del:p.Gly397fs	coding	Pathogenic
3	3148051	G	GAA	G3148056A	TRNT1	NM_182916.3(TRNT1):c.1205_1206dup:p.Glu403fs	coding	Pathogenic
3	3148101	A	AT	G3148102T	TRNT1	NM_182916.3(TRNT1):c.1252_1253insT:p.Ser418fs	coding	Pathogenic
3	3150840	A	ATAAC	T3150846A	CRBN	NM_016302.4(CRBN):c.*21_*24dup	noncoding	Benign
3	3175207	G	GT	G3175214T	CRBN	NM_016302.4(CRBN):c.129dup:p.Pro44fs	coding	Pathogenic
3	4418043	C	CA	C4418045A	SUMF1	NM_182760.4(SUMF1):c.691dup:p.Trp231fs	coding	Pathogenic
3	4418066	CT	C	T4418068C	SUMF1	NM_182760.4(SUMF1):c.668del:p.Lys223fs	coding	Pathogenic
3	4418111	ATGGAGAAC	A	G4418116T	SUMF1	NM_182760.4(SUMF1):c.616_623del:p.Val206fs	coding	Pathogenic
3	4418133	CT	C	T4418134G	SUMF1	NM_182760.4(SUMF1):c.603-2del	coding	Pathogenic
3	4420397	A	AT	G4420414T	SUMF1	NM_182760.4(SUMF1):c.520-267dup	noncoding	Benign
3	4420397	A	ATT	G4420414T	SUMF1	NM_182760.4(SUMF1):c.520-267_520-266dup	noncoding	Benign
3	4420397	AT	A	T4420413G	SUMF1	NM_182760.4(SUMF1):c.520-252del	noncoding	Benign
3	4452961	G	GT	A4452963T	SUMF1	NM_182760.4(SUMF1):c.358dup:p.Thr120fs	coding	Pathogenic
3	4452996	TA	T	A4452997T	SUMF1	NM_182760.4(SUMF1):c.323del:p.Ile108fs	coding	Pathogenic
3	4453040	TG	T	G4453044A	SUMF1	NM_182760.4(SUMF1):c.279del:p.Ile94fs	coding	Pathogenic/Likely_pathogenic
3	4466979	TG	T	G4466980A	SUMF1	NM_182760.4(SUMF1):c.266del:p.His88_Ser89insTer	coding	Pathogenic
3	4467002	CG	C	G4467005T	SUMF1	NM_182760.4(SUMF1):c.243del:p.Gly82fs	coding	Pathogenic
3	4467048	GGCTGC	G	G4467049C	SUMF1	NM_182760.4(SUMF1):c.193_197del:p.Ala65fs	coding	Pathogenic
3	4467054	CG	C	G4467055A	SUMF1	NM_182760.4(SUMF1):c.191del:p.Ser64fs	coding	Pathogenic
3	4627481	AG	A	G4627482C	ITPR1	NM_001378452.1(ITPR1):c.164-281del	noncoding	Benign
3	4645786	G	GCT	A4645801C	ITPR1	NM_001378452.1(ITPR1):c.855+59CT[8]	noncoding	Benign
3	4661174	C	CT	G4661175T	ITPR1	NM_001378452.1(ITPR1):c.1251+87_1251+88insT	noncoding	Benign
3	4673577	TTTTGTTTGTTTG	T	T4673590A	ITPR1	NM_001378452.1(ITPR1):c.2456+191TTTG[3]	noncoding	Benign
3	4674837	C	CT	G4674851T	ITPR1	NM_001378452.1(ITPR1):c.2599-218dup	noncoding	Benign
3	4683935	CA	C	A4683937G	ITPR1	NM_001378452.1(ITPR1):c.3498+139del	noncoding	Benign
3	4684327	AC	A	C4684328T	ITPR1	NM_001378452.1(ITPR1):c.3546del:p.Tyr1183fs	coding	Pathogenic
3	4688265	T	TC	A4688266C	ITPR1	NM_001378452.1(ITPR1):c.3703-230_3703-229insC	noncoding	Benign
3	4690985	AG	A	G4690986A	ITPR1	NM_001378452.1(ITPR1):c.3829-158del	noncoding	Benign
3	4697315	G	GGT	A4697354G	ITPR1	NM_001378452.1(ITPR1):c.4407+44GT[20]	noncoding	Benign
3	4697315	G	GGTGT	A4697354G	ITPR1	NM_001378452.1(ITPR1):c.4407+44GT[21]	noncoding	Benign
3	4697315	G	GGTGTGT	A4697354G	ITPR1	NM_001378452.1(ITPR1):c.4407+44GT[22]	noncoding	Benign
3	4697315	GGTGT	G	G4697350A	ITPR1	NM_001378452.1(ITPR1):c.4407+44GT[17]	noncoding	Benign
3	4711516	G	GT	A4711518T	ITPR1	NM_001378452.1(ITPR1):c.4992-240dup	noncoding	Benign
3	4727406	AC	A	C4727407T	ITPR1	NM_001378452.1(ITPR1):c.5220+234del	noncoding	Benign
3	4768916	TTC	T	C4768918T	ITPR1	NM_001378452.1(ITPR1):c.5979+154_5979+155del	noncoding	Benign
3	4836735	CT	C	T4836759A	ITPR1	NM_001378452.1(ITPR1):c.8029-15del	noncoding	Benign
3	4836735	CTT	C	T4836758A	ITPR1	NM_001378452.1(ITPR1):c.8029-16_8029-15del	noncoding	Benign
3	4836735	CTTTTTTTTTTT	C	T4836749A	ITPR1	NM_001378452.1(ITPR1):c.8029-25_8029-15del	noncoding	Benign
3	4836735	CTTTTTTTTTTTT	C	T4836748A	ITPR1	NM_001378452.1(ITPR1):c.8029-26_8029-15del	noncoding	Benign
3	4836945	GAA	G	A4836948T	ITPR1	NM_001378452.1(ITPR1):c.8190+13_8190+14del	noncoding	Benign/Likely_benign
3	7452558	T	TTGTG	T7452588G	GRM7	NM_000844.4(GRM7):c.1175-48TG[16]	noncoding	Benign
3	8745478	AAGCGGGTGGCTTCTGTG	A	C8745481T	CAV3	NM_033337.3(CAV3):c.115-45_115-29del	noncoding	Benign/Likely_benign
3	8746677	GC	G	C8746680T	CAV3	NM_033337.3(CAV3):c.*813del	noncoding	Benign/Likely_benign
3	8746797	T	TCACACACACACACACA	T8746799A	CAV3	Single_allele	noncoding	Benign
3	8746797	T	TCACACACACACA	T8746799A	CAV3	Single_allele	noncoding	Benign
3	8746799	T	TCTCACACACACACACACA	A8746801T	CAV3	Single_allele	noncoding	Benign
3	8746804	C	CACACACACACACACACAA	G8746820C	CAV3	Single_allele	noncoding	Benign
3	9435827	C	CT	G9435829T	SETD5	NM_001080517.3(SETD5):c.489dup:p.Val164fs	coding	Pathogenic
3	9435872	AG	A	G9435875T	SETD5	NM_001080517.3(SETD5):c.536del:p.Gly179fs	coding	Pathogenic
3	9440646	TTA	T	T9440647A	SETD5	NM_001080517.3(SETD5):c.759_760del:p.Ile253_Asn254insTer	coding	Pathogenic
3	9441352	AT	A	T9441368A	SETD5	NM_001080517.3(SETD5):c.811-225del	noncoding	Benign
3	9441610	C	CA	C9441612A	SETD5	NM_001080517.3(SETD5):c.829dup:p.Thr277fs	coding	Pathogenic
3	9441668	ACT	A	C9441671T	SETD5	NM_001080517.3(SETD5):c.889_890del:p.Leu297fs	coding	Pathogenic
3	9441672	TTATAATA	C	T9441672C	SETD5	NM_001080517.3(SETD5):c.890_897delinsC:p.Leu297fs	coding	Pathogenic
3	9442137	CT	C	T9442140G	SETD5	NM_001080517.3(SETD5):c.972del:p.Phe324fs	coding	Pathogenic
3	9442193	C	CT	C9442197T	SETD5	NM_001080517.3(SETD5):c.1028dup:p.Gly344fs	coding	Pathogenic
3	9442196	TC	T	C9442197G	SETD5	NM_001080517.3(SETD5):c.1029del:p.Phe343fs	coding	Pathogenic
3	9443638	CAG	C	G9443640A	SETD5	NM_001080517.3(SETD5):c.1187+223_1187+224del	noncoding	Benign
3	9445106	AG	A	G9445108A	SETD5	NM_001080517.3(SETD5):c.1248del:p.Asn417fs	coding	Pathogenic
3	9445170	CAG	C	G9445174C	SETD5	NM_001080517.3(SETD5):c.1314_1315del:p.Glu438fs	coding	Pathogenic
3	9445710	TG	T	G9445711A	SETD5	NM_001080517.3(SETD5):c.1495del:p.Asp499fs	coding	Pathogenic
3	9447092	G	GA	C9447097A	SETD5	NM_001080517.3(SETD5):c.1571dup:p.Asn524fs	coding	Pathogenic
3	9447213	CT	C	T9447214G	SETD5	NM_001080517.3(SETD5):c.1689del:p.Glu564fs	coding	Pathogenic
3	9447227	A	AT	G9447228T	SETD5	NM_001080517.3(SETD5):c.1702_1703insT:p.Ser568fs	coding	Pathogenic
3	9447504	CTAGCCTCTTTAGCTCATTTAA	C	T9447505G	SETD5	NM_001080517.3(SETD5):c.1783-181_1783-161del	noncoding	Benign
3	9447526	G	GT	G9447528T	SETD5	NM_001080517.3(SETD5):c.1783-159dup	noncoding	Benign
3	9447650	A	ATTTC	G9447656T	SETD5	NM_001080517.3(SETD5):c.1783-34_1783-31dup	noncoding	Benign
3	9447861	G	GT	A9447863T	SETD5	NM_001080517.3(SETD5):c.1959dup:p.Asn654Ter	coding	Pathogenic
3	9447867	GT	G	T9447870A	SETD5	NM_001080517.3(SETD5):c.1967del:p.Ser655_Leu656insTer	coding	Pathogenic
3	9448627	GA	TT	G9448627T	SETD5	NM_001080517.3(SETD5):c.2343_2344delinsTT:p.Lys781_Lys782delinsAsnTer	coding	Pathogenic
3	9453829	G	GA	G9453831A	SETD5	NM_001080517.3(SETD5):c.2438dup:p.Asn814fs	coding	Pathogenic
3	9464631	CTTACTACTGCTAG	C	T9464633C	SETD5	NM_001080517.3(SETD5):c.2685_2697del:p.Thr896fs	coding	Pathogenic
3	9470698	C	CCCTTTGAA	T9470707C	SETD5	NM_001080517.3(SETD5):c.2965_2972dup:p.Asn991_Ala992insLeuTer	coding	Pathogenic
3	9470771	CA	C	A9470772T	SETD5	NM_001080517.3(SETD5):c.3038del:p.His1013fs	coding	Pathogenic
3	9470923	GA	G	A9470929G	SETD5	NM_001080517.3(SETD5):c.3195del:p.Val1066fs	coding	Pathogenic
3	9475610	A	AC	T9475618C	SETD5	NM_001080517.3(SETD5):c.3855dup:p.Ser1286fs	coding	Pathogenic/Likely_pathogenic
3	9701768	CTT	C	T9701770C	MTMR14	NM_001077525.3(MTMR14):c.1770-20_1770-19del	noncoding	Benign
3	9739281	CAT	C	A9739282G	BRPF1	NM_001003694.2(BRPF1):c.883_884del:p.Met295fs	coding	Pathogenic
3	9741337	TAAAG	T	A9741340C	BRPF1	NM_001003694.2(BRPF1):c.1755_1758del:p.Lys585fs	coding	Pathogenic
3	9741359	C	CA	G9741361A	BRPF1	NM_001003694.2(BRPF1):c.1775dup:p.Arg593fs	coding	Pathogenic
3	9743194	CG	C	G9743197C	BRPF1	NM_001003694.2(BRPF1):c.2255del:p.Gly752fs	coding	Pathogenic
3	9744384	TC	T	C9744386T	BRPF1	NM_001003694.2(BRPF1):c.2798del:p.Pro933fs	coding	Pathogenic
3	9876757	CAAAAAAAAAAAAAAA	C	A9876770C	CIDEC	NM_001321142.2(CIDEC):c.207+294_207+308del	noncoding	Benign
3	9917571	AGGGGCAAGAGCT	A	G9917575T	IL17RC	NM_153460.4(IL17RC):c.106-138_106-127del	coding	Benign
3	9940761	A	AAGGGAGAGGGAG	A9940787G	CRELD1	NM_001077415.3(CRELD1):c.461-88AGGGAG[6]	noncoding	Benign
3	10026743	GCCAGATGGTA	G	C10026744T	FANCD2	NM_001018115.3(FANCD2):c.-34+271_-34+280del	noncoding	Benign
3	10032657	A	ATTTG	T10032669G	FANCD2	NM_001018115.3(FANCD2):c.65-174TTTG[3]	noncoding	Benign
3	10032862	CAAAG	C	G10032866T	FANCD2	NM_001018115.3(FANCD2):c.99_102del:p.Lys33fs	coding	Pathogenic
3	10034324	C	CAAAA	G10034346A	FANCD2	NM_001018115.3(FANCD2):c.206-127_206-124dup	noncoding	Benign
3	10034324	C	CAAA	G10034346A	FANCD2	NM_001018115.3(FANCD2):c.206-126_206-124dup	noncoding	Benign
3	10034489	CA	C	A10034493G	FANCD2	NM_001018115.3(FANCD2):c.230del:p.Lys77fs	coding	Pathogenic
3	10034497	G	GC	T10034499C	FANCD2	NM_001018115.3(FANCD2):c.235dup:p.Leu79fs	coding	Pathogenic
3	10034543	AT	A	T10034548C	FANCD2	NM_001018115.3(FANCD2):c.273+12del	noncoding	Benign
3	10041632	GAT	G	T10041634G	FANCD2	NM_001018115.3(FANCD2):c.707_708del:p.Ile236fs	coding	Pathogenic
3	10041700	TC	T	C10041702T	FANCD2	NM_001018115.3(FANCD2):c.775del:p.Leu259fs	coding	Pathogenic
3	10041842	C	CT	C10041858T	FANCD2	NM_001018115.3(FANCD2):c.783+147dup	noncoding	Benign
3	10041842	CTT	C	T10041856C	FANCD2	NM_001018115.3(FANCD2):c.783+146_783+147del	noncoding	Benign
3	10041861	C	CG	T10041862G	FANCD2	NM_001018115.3(FANCD2):c.783+151_783+152insG	noncoding	Benign
3	10041905	G	GT	G10041917T	FANCD2	NM_001018115.3(FANCD2):c.783+206dup	noncoding	Benign
3	10041905	GT	G	T10041916G	FANCD2	NM_001018115.3(FANCD2):c.783+206del	noncoding	Benign
3	10046645	C	CTTCTTTGTCTAATGTACTA	A10046646T	FANCD2	NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA:p.Arg401delinsPhePheValTer	coding	Pathogenic
3	10060167	C	CAA	C10060183A	FANCD2	NM_001018115.3(FANCD2):c.1657-113_1657-112dup	noncoding	Benign
3	10060167	C	CA	C10060183A	FANCD2	NM_001018115.3(FANCD2):c.1657-112dup	noncoding	Benign
3	10062127	TA	T	A10062136T	FANCD2	NM_001018115.3(FANCD2):c.1767-15del	noncoding	Benign
3	10063830	GC	AT	G10063830A	FANCD2	NM_001018115.3(FANCD2):c.1866_1867delinsAT:p.Gln623Ter	coding	Pathogenic
3	10063844	C	CCT	G10063849C	FANCD2	NM_001018115.3(FANCD2):c.1883_1884dup:p.Ala629fs	coding	Pathogenic
3	10064866	CA	C	A10064867G	FANCD2	NM_001018115.3(FANCD2):c.2160del:p.Gly721fs	coding	Pathogenic
3	10074916	T	TTAC	A10074937C	FANCD2	NM_001018115.3(FANCD2):c.2859+244TAC[7]	noncoding	Benign
3	10081425	ATCAGAGGC	A	C10081427G	FANCD2	NM_001018115.3(FANCD2):c.3187_3194del:p.Gln1063fs	coding	Pathogenic
3	10087281	C	CT	A10087301T	FANCD2	NM_001018115.3(FANCD2):c.3466+36dup	noncoding	Benign
3	10087281	C	CTT	A10087301T	FANCD2	NM_001018115.3(FANCD2):c.3466+35_3466+36dup	noncoding	Benign
3	10087281	C	CTTT	A10087301T	FANCD2	NM_001018115.3(FANCD2):c.3466+34_3466+36dup	noncoding	Benign
3	10087281	CT	C	T10087300A	FANCD2	NM_001018115.3(FANCD2):c.3466+36del	noncoding	Benign
3	10087281	CTT	C	T10087299A	FANCD2	NM_001018115.3(FANCD2):c.3466+35_3466+36del	noncoding	Benign
3	10087527	C	CA	T10087540A	FANCD2	NM_001018115.3(FANCD2):c.3466+275dup	noncoding	Benign
3	10088868	GA	G	A10088869G	FANCD2	NM_001018115.3(FANCD2):c.3602del:p.Glu1201fs	coding	Pathogenic
3	10090443	ATTT	A	T10090469C	FANCD2	NM_001018115.3(FANCD2):c.3777+84_3777+86del	noncoding	Benign
3	10092201	CT	C	T10092202A	FANCD2	NM_001018115.3(FANCD2):c.3799del:p.Tyr1267fs	coding	Pathogenic/Likely_pathogenic
3	10092431	A	AT	G10092443T	FANCD2	NM_001018115.3(FANCD2):c.3849+190dup	noncoding	Benign
3	10092431	AT	A	T10092442G	FANCD2	NM_001018115.3(FANCD2):c.3849+190del	noncoding	Benign
3	10101065	TA	T	A10101079G	FANCD2	NM_001018115.3(FANCD2):c.4282-109del	noncoding	Benign
3	10101377	CT	C	T10101402A	FANCD2	NM_001018115.3(FANCD2):c.*140del	noncoding	Benign
3	10116418	GTA	G	T10116425G	BRK1	NM_018462.5(BRK1):c.118+600TA[3]	noncoding	Benign
3	10118252	C	CAAAAAA	G10118271A	BRK1	NM_018462.5(BRK1):c.118+2446_118+2451dup	noncoding	Benign
3	10118252	C	CAAAAA	G10118271A	BRK1	NM_018462.5(BRK1):c.118+2447_118+2451dup	noncoding	Benign
3	10121546	C	CT	C10121557T	BRK1	NM_018462.5(BRK1):c.119-4070dup	noncoding	Benign
3	10124094	CTTAG	C	T10124099G	BRK1	NM_018462.5(BRK1):c.119-1527_119-1524del	noncoding	Benign
3	10141519	CTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGGAGGCAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGCAGGGACGATAGCACGGTCTGAAGCCCCTCTACCGCCCCGGGGTCCATTTTGCAGACGGGGAACTGAGGCCCCTTGAGGCAGGACACATCCAGGGTGACGCTGCTCGTAAGCGTCAGAGCATTCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	C	A10141523T	VHL	NC_000003.11:g.10183207_10184294del	noncoding	Pathogenic
3	10141557	C	CAAA	C10141572A	VHL	Single_allele	noncoding	Benign
3	10141557	C	CAA	C10141572A	VHL	Single_allele	noncoding	Benign
3	10142026	GGCCCGTGCTGCGCT	G	G10142027C	VHL	NM_000551.4(VHL):c.180_193del:p.Pro61fs	coding	Pathogenic
3	10142035	T	TG	C10142037G	VHL	NM_000551.4(VHL):c.189dup:p.Arg64fs	coding	Pathogenic/Likely_pathogenic
3	10142037	C	CG	C10142039G	VHL	NM_000551.4(VHL):c.191dup:p.Ser65fs	coding	Pathogenic
3	10142049	T	TCG	A10142056C	VHL	NM_000551.4(VHL):c.207_208dup:p.Glu70fs	coding	Pathogenic
3	10142050	C	CG	C10142052G	VHL	NM_000551.4(VHL):c.204dup:p.Arg69fs	coding	Pathogenic
3	10142057	G	GCC	T10142061C	VHL	NM_000551.4(VHL):c.212_213dup:p.Ser72fs	coding	Pathogenic
3	10142087	T	TCCGC	G10142092C	VHL	NM_000551.4(VHL):c.241_244dup:p.Arg82fs	coding	Pathogenic
3	10142087	T	TCCGCGCGTCGTGCTGC	T10142107C	VHL	NM_000551.4(VHL):c.244_259dup:p.Val87fs	coding	Pathogenic
3	10142096	CG	C	G10142097T	VHL	NM_000551.4(VHL):c.250del:p.Val84fs	coding	Pathogenic
3	10142106	G	GTA	G10142110A	VHL	NM_000551.4(VHL):c.261_262dup:p.Trp88fs	coding	Pathogenic
3	10142143	CA	C	A10142145C	VHL	NM_000551.4(VHL):c.298del:p.Thr100fs	coding	Pathogenic
3	10142160	A	AC	G10142162C	VHL	NM_000551.4(VHL):c.314dup:p.Arg107fs	coding	Pathogenic
3	10142341	C	CT	C10142362T	VHL	NM_000551.4(VHL):c.340+174dup	noncoding	Benign
3	10142341	C	CTT	C10142362T	VHL	NM_000551.4(VHL):c.340+173_340+174dup	noncoding	Benign
3	10142341	C	CTTT	C10142362T	VHL	NM_000551.4(VHL):c.340+172_340+174dup	noncoding	Benign
3	10142459	CCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCGCGCCCGGCTGATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTATGGGCATGAGCCTCCGCGCCCGGCCCAGAGCATTCTTTATAAGGCCGAATAGTTTGCATTTGAAGGTGGCTCCCCCCAGTCCCCCACCCCACGTGTATTTTCCCCTCAAAGAAAAGCTGCATCCTTAACACCCCATCTGTTCAGTCCTCATGACTCCAGTGGGCCAGTTCTGCGTAGTCCCTGCCCTCGTGGAGAACACATTCCTCCTGGGGAGACTGACAGATGCAAAGACAGGAACAAGCCAGGGTCATGTTGGCGCCGGAAGAGCCGACCGTGTGTGGCGTGGGAAATTGACTTACCTGCCTGCTGGGAGATGGAGGGGTTGCGGTTGTGTGGTTTCAGTTAAGGAGCACTTCCCGGAGAAGGAAGAGAGCAGGATGGAGTAGGAACTAGCCAACCCTAGGTAAGAGGTTCTAGACATGCGTGCGTTGAGACCTGGAGTCTTGGGAGAGGATGCTTAAAAGGTGATTTTACCCCTAGGAATATGGGGGCACTGAAATTTTTTTTTTTTTTTGAGACGGGAGTCTTGCTCTGCAAGCTGGAGTGCAGTGGCCCACGCTAGAATGCAGTGGCGCGATTGCGGCTCATTGCAACATCTGCCACCTGGGGTCAAGTGGTTCTCTTGCCTCAGCCTCCCGAGGAGCGGGGATTACAGGCGTGCGCCACCACTCCTGGCTAATTTTTTTTTTAGTAGAGACGGGGGTTTCGTCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACTGCGCCCAGCCCTTTGAAAGTTTTTCAGTATTTATGTATATATATTTTTGAGTTGGAGTCTGGATCTGTCGCCAGACTGGAGTGCTGTTGCACAATCTTGGCTCACTGCAATCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACGCACTACCATTCCCAGCTAATTTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGCGCTCGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCTGGGATTTCGGCCACAACGTCCGACCGAAAGTTTTTAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGT	C	T10142470C	VHL	NM_000551.4(VHL):c.340+283_463+499del	noncoding	Pathogenic
3	10143766	TAAGCAGGGACATGACATTGTCAGATTTATATACTGAAAAGCTCACCCAGGTTGCCAAGTGGTTTGGAGGGGAAAGACTGCTGTCGAGGAAGCAGTTAGGTAGTTGTGAAAACCCAGGTGAGGAATAACTAGGCCTTACCTAAGGTGCAGGCAGTAATCTTGCCATGGCCTTTAAGCAGAGAAGTAGTCCTAGTGTCACTTAATCTTTACAAAGGATTTTTGCAAGGATCCCGATCTTTCTTCCTTGAGGGTGGTGTACTTAATACACTTTTACACCAGACTTCTAATGTTAGATGAAGAACACAGTATTTCCAGGGATCAACATTTCTGTAGGCTCCTATTTTATATAGGAAATTGTATGAATTTTGTATTTTACTCCAAAATTTTTCTGTGCCCGATTTAATATAAAAATTTACTGAGCCTGGGTGCAGTGGCTCATGCCTGTGATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGCCCAGGAGCTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGTTGGAGGCTACAGTGAACTATGATGGTGCCTCTGAATAGTTGCTGTACTCTAGTCTGGTAACACAGCAAGACCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGA	T	A10143767T	VHL	NM_000551.4(VHL):c.340+1580_464-1477del	noncoding	Pathogenic
3	10146457	GGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGA	G	T10146465C	VHL	NM_000551.4(VHL):c.341-49_*2815del	noncoding	Pathogenic
3	10146535	AT	A	T10146536G	VHL	NM_000551.4(VHL):c.363del:p.Asp121fs	coding	Pathogenic
3	10146561	GT	G	T10146563A	VHL	NM_000551.4(VHL):c.390del:p.Asn131fs	coding	Pathogenic
3	10146597	GT	G	T10146599G	VHL	NM_000551.4(VHL):c.426del:p.Asp143fs	coding	Pathogenic
3	10146667	GGTT	G	T10146673G	VHL	NM_000551.4(VHL):c.463+37_463+39del	noncoding	Benign/Likely_benign
3	10146809	AT	A	T10146810G	VHL	NM_000551.4(VHL):c.463+174del	noncoding	Benign
3	10149784	CAGTGTATACTCTGAAAG	C	T10149787C	VHL	NM_000551.3(VHL):c.464_480del17	noncoding	Pathogenic
3	10149805	GA	G	A10149806T	VHL	NM_000551.4(VHL):c.483del:p.Cys162fs	coding	Pathogenic/Likely_pathogenic
3	10149823	GGAGCCTAGTCAAGCCT	G	C10149827A	VHL	NM_000551.4(VHL):c.504_519del:p.Ser168fs	coding	Pathogenic
3	10149846	TACAG	T	A10149847G	VHL	NM_000551.4(VHL):c.524_527del:p.Asn174_Tyr175insTer	coding	Pathogenic
3	10149895	AC	A	C10149898A	VHL	NM_000551.4(VHL):c.575del:p.Pro192fs	coding	Pathogenic
3	10338631	TGG	T	G10338632A	ATP2B2	NM_001001331.4(ATP2B2):c.3238-275_3238-274del	noncoding	Benign
3	10340563	C	CG	C10340565G	ATP2B2	NM_001001331.4(ATP2B2):c.3058dup:p.Arg1020fs	coding	Pathogenic
3	10385312	GC	G	C10385314G	ATP2B2	NM_001001331.4(ATP2B2):c.955del:p.Ala319fs	coding	Pathogenic
3	10385432	T	TA	T10385444A	ATP2B2	NM_001001331.4(ATP2B2):c.941-116dup	noncoding	Benign
3	10388218	C	CA	T10388229A	ATP2B2	NM_001001331.4(ATP2B2):c.907+49dup	noncoding	Benign
3	11018675	TA	T	A11018676C	SLC6A1	NM_003042.4(SLC6A1):c.449del:p.Tyr150fs	coding	Pathogenic
3	11020306	GT	G	T11020307G	SLC6A1	NM_003042.4(SLC6A1):c.566del:p.Val189fs	coding	Pathogenic
3	11022395	T	TGGCCATCACGCTGGCCATC	C11022416G	SLC6A1	NM_003042.4(SLC6A1):c.643_661dup:p.Ala221fs	coding	Pathogenic
3	11025797	ATCT	A	T11025804C	SLC6A1	NM_003042.4(SLC6A1):c.875TCT[2]:p.Phe294del	coding	Pathogenic/Likely_pathogenic
3	11026283	A	AG	A11026286G	SLC6A1	NM_003042.4(SLC6A1):c.1004dup:p.Phe336fs	coding	Pathogenic
3	11028856	GC	G	C11028864G	SLC6A1	NM_003042.4(SLC6A1):c.1191+17del	noncoding	Benign
3	11028856	G	GCC	G11028865C	SLC6A1	NM_003042.4(SLC6A1):c.1191+16_1191+17dup	noncoding	Benign/Likely_benign
3	11029333	GTCTC	G	C11029337A	SLC6A1	NM_003042.4(SLC6A1):c.1308_1311del:p.Ser437fs	coding	Pathogenic
3	11029339	C	CT	A11029341T	SLC6A1	NM_003042.4(SLC6A1):c.1311dup:p.Asn438Ter	coding	Pathogenic
3	11031174	CA	C	A11031175G	SLC6A1	NM_003042.4(SLC6A1):c.1324-2del	noncoding	Pathogenic
3	11034503	TCCCTC	T	C11034515A	SLC6A1	NM_003042.4(SLC6A1):c.1528-27CCCTC[2]	noncoding	Benign
3	11809584	G	GT	C11809591T	TAMM41	NM_001284401.2(TAMM41):c.806dup:p.Asn269fs	coding	Pathogenic
3	12381740	AT	A	T12381741A	PPARG	NM_138711.6(PPARG):c.390+250del	noncoding	Benign
3	12392687	AAA	T	A12392687T	PPARG	NM_138711.6(PPARG):c.464_466delinsT:p.Lys155fs	coding	Pathogenic
3	12416417	G	GACTC	C12416422A	PPARG	NM_138711.6(PPARG):c.730-286_730-283dup	noncoding	Benign
3	12490248	A	AT	G12490257T	TSEN2	NM_025265.4(TSEN2):c.189+267dup	noncoding	Benign
3	12503723	ACGTGCT	CA	A12503723C	TSEN2	NM_025265.4(TSEN2):c.770_776delinsCA:p.Tyr257fs	coding	Pathogenic
3	12516437	ACAAAATAT	A	C12516438A	TSEN2	NM_025265.4(TSEN2):c.910-173_910-166del	noncoding	Benign
3	12516437	AC	A	C12516438A	TSEN2	NM_025265.4(TSEN2):c.910-173del	noncoding	Benign
3	12516439	AAAATATATG	A	A12516440T	TSEN2	NM_025265.4(TSEN2):c.910-171_910-163del	noncoding	Benign
3	12516441	AATAT	A	A12516444G	TSEN2	NM_025265.4(TSEN2):c.910-167_910-164del	noncoding	Benign
3	12516442	ATATATG	A	A12516444G	TSEN2	NM_025265.4(TSEN2):c.910-167_910-162del	noncoding	Benign
3	12516442	ATATATGTGTG	A	A12516444G	TSEN2	NM_025265.4(TSEN2):c.910-167_910-158del	noncoding	Benign
3	12516446	ATGTG	A	T12516485A	TSEN2	NM_025265.4(TSEN2):c.910-164TG[19]	noncoding	Benign
3	12516446	ATGTGTG	A	T12516483A	TSEN2	NM_025265.4(TSEN2):c.910-164TG[18]	noncoding	Benign
3	12516446	ATGTGTGTG	A	T12516481A	TSEN2	NM_025265.4(TSEN2):c.910-164TG[17]	noncoding	Benign
3	12516446	ATGTGTGTGTG	A	T12516479A	TSEN2	NM_025265.4(TSEN2):c.910-164TG[16]	noncoding	Benign
3	12529465	CA	C	A12529485T	TSEN2	NM_025265.4(TSEN2):c.1137-277del	noncoding	Benign
3	12529465	C	CA	T12529486A	TSEN2	NM_025265.4(TSEN2):c.1137-277dup	noncoding	Benign
3	12529921	G	GT	C12529935T	TSEN2	NM_025265.4(TSEN2):c.1248+61dup	coding	Benign
3	12529921	GT	G	T12529934C	TSEN2	NM_025265.4(TSEN2):c.1248+61del	coding	Benign
3	12532641	CT	C	T12532650A	TSEN2	NM_025265.4(TSEN2):c.1339-12del	noncoding	Benign
3	12585602	C	CT	A12585606T	RAF1	NM_002880.4(RAF1):c.1536+76dup	noncoding	Benign
3	12606048	T	TG	C12606049G	RAF1	NM_002880.4(RAF1):c.680+152_680+153insC	noncoding	Benign
3	12663660	AC	A	C12663664A	RAF1	NM_002880.4(RAF1):c.-27+152del	noncoding	Benign
3	13874736	C	CCTCTGTCA	A13874745C	WNT7A	NM_004625.4(WNT7A):c.298+203_298+210dup	noncoding	Benign
3	14125483	T	TTG	A14125487G	TMEM43	NM_024334.3(TMEM43):c.12+280_12+281dup	noncoding	Benign
3	14129307	TAA	T	A14129333T	TMEM43	NM_024334.3(TMEM43):c.13-79_13-78del	noncoding	Benign
3	14129307	TA	T	A14129334T	TMEM43	NM_024334.3(TMEM43):c.13-78del	noncoding	Benign
3	14129307	T	TAA	T14129335A	TMEM43	NM_024334.3(TMEM43):c.13-79_13-78dup	noncoding	Benign
3	14129307	T	TA	T14129335A	TMEM43	NM_024334.3(TMEM43):c.13-78dup	noncoding	Benign
3	14132633	TG	T	G14132638C	TMEM43	NM_024334.3(TMEM43):c.442+43del	noncoding	Benign
3	14147948	C	CA	G14147950A	XPC	NM_004628.5(XPC):c.2473dup:p.Trp825fs	coding	Pathogenic
3	14147961	GCACGTCTTTG	A	G14147961A	XPC	NM_004628.5(XPC):c.2451_2461delinsT:p.Lys818fs	coding	Pathogenic
3	14152398	CAG	C	A14152401T	XPC	NM_004628.5(XPC):c.2050_2051del:p.Leu684fs	coding	Pathogenic
3	14156378	CTG	C	G14156380C	XPC	NM_004628.5(XPC):c.1988_1989del:p.Thr663fs	coding	Pathogenic
3	14156469	AG	A	G14156471C	XPC	NM_004628.5(XPC):c.1898del:p.Pro633fs	coding	Pathogenic
3	14158201	T	TA	C14158203A	XPC	NM_004628.5(XPC):c.1681dup:p.Tyr561fs	coding	Pathogenic
3	14158355	CT	C	T14158356C	XPC	NM_004628.5(XPC):c.1527del:p.Gly510fs	coding	Pathogenic
3	14158430	T	TG	A14158433G	XPC	NM_004628.5(XPC):c.1452dup:p.Arg485fs	coding	Pathogenic
3	14158576	CT	C	T14158577C	XPC	NM_004628.5(XPC):c.1306del:p.Ser436fs	coding	Pathogenic
3	14158579	CCA	C	A14158581T	XPC	NM_004628.5(XPC):c.1302_1303del:p.Ser434fs	coding	Pathogenic
3	14158589	CTTTAT	C	T14158590A	XPC	NM_004628.5(XPC):c.1289_1293del:p.Ser429_Tyr430insTer	coding	Pathogenic/Likely_pathogenic
3	14158616	GC	G	C14158618G	XPC	NM_004628.5(XPC):c.1266del:p.Arg423fs	coding	Pathogenic
3	14158619	GCT	G	T14158621C	XPC	NM_004628.5(XPC):c.1262_1263del:p.Glu421fs	coding	Pathogenic
3	14158700	TG	T	G14158701C	XPC	NM_004628.5(XPC):c.1182del:p.Ser394fs	coding	Pathogenic
3	14158858	TC	T	C14158860G	XPC	NM_004628.5(XPC):c.1024del:p.Asp342fs	coding	Pathogenic
3	14164830	C	CATCTCGAG	C14164839A	XPC	NM_004628.5(XPC):c.875_882dup:p.Asp295fs	coding	Pathogenic
3	14164909	A	AT	A14164912T	XPC	NM_004628.5(XPC):c.803dup:p.Asn268fs	coding	Pathogenic
3	14167219	GA	G	A14167221G	XPC	NM_004628.5(XPC):c.570del:p.Arg191fs	coding	Pathogenic
3	14168262	TTC	T	C14168266T	XPC	NM_004628.5(XPC):c.529_530del:p.Glu177fs	coding	Pathogenic
3	14178525	T	TCG	T14178530C	XPC	NM_004628.5(XPC):c.42_43dup:p.Glu15fs	coding	Pathogenic
3	14655314	GA	G	A14655326G	CCDC174	NM_016474.5(CCDC174):c.148-203del	noncoding	Benign
3	14661341	A	AT	G14661349T	CCDC174	NM_016474.5(CCDC174):c.308-182dup	noncoding	Benign
3	14665238	T	TATTG	A14665264T	CCDC174	NM_016474.5(CCDC174):c.581+116ATTG[7]	noncoding	Benign
3	14665263	A	ATTGG	A14665264T	CCDC174	NM_016474.5(CCDC174):c.581+140_581+141insTTGG	noncoding	Benign
3	15455964	TC	T	C15455968A	COLQ	NM_005677.4(COLQ):c.1129del:p.Asp377fs	coding	Pathogenic
3	15456256	T	TCAGAGAGGGGCTTCTATTTGGGAGTCAGGGTG	G15456289C	COLQ	NM_005677.4(COLQ):c.1074+172_1074+203dup	noncoding	Benign
3	15456525	TGGCG	T	G15456526T	COLQ	NM_005677.4(COLQ):c.1005_1008del:p.Asn335fs	coding	Pathogenic
3	15458246	AT	A	T15458248C	COLQ	NM_005677.4(COLQ):c.893del:p.Asn298fs	coding	Pathogenic
3	15466356	CT	C	T15466357G	COLQ	NM_005677.4(COLQ):c.798del:p.Gly267fs	coding	Pathogenic
3	15478992	GC	G	C15478994A	COLQ	NM_005677.4(COLQ):c.377del:p.Gly126fs	coding	Pathogenic
3	15479377	TG	T	G15479379A	COLQ	NM_005677.4(COLQ):c.326del:p.Pro109fs	coding	Pathogenic
3	15479397	TA	T	A15479402G	COLQ	NM_005677.4(COLQ):c.322-16del	noncoding	Benign
3	15498930	A	ATCAG	A15498934G	COLQ	NM_005677.4(COLQ):c.107-9294_107-9293insTGAC	noncoding	Benign
3	15521757	GTGTC	G	C15521761G	COLQ	Single_allele	noncoding	Benign
3	15635494	G	GCCCT	G15635499C	BTD	NM_001370658.1(BTD):c.56_59dup:p.Gly21fs	coding	Pathogenic
3	15644393	TC	AA	T15644393A	BTD	NM_001370658.1(BTD):c.477_478delinsAA:p.Cys159_His160delinsTer	coding	Pathogenic
3	15644413	GC	G	C15644416A	BTD	NM_001370658.1(BTD):c.500del:p.Pro167fs	coding	Pathogenic
3	15644447	TGTC	T	C15644450G	BTD	NM_001370658.1(BTD):c.534_536del:p.Val179del	coding	Pathogenic/Likely_pathogenic
3	15644492	AC	A	C15644493A	BTD	NM_001370658.1(BTD):c.577del:p.His193fs	coding	Pathogenic
3	15644504	C	CA	T15644505A	BTD	NM_001370658.1(BTD):c.588_589insA:p.Phe197fs	coding	Pathogenic
3	15644658	T	TA	C15644660A	BTD	NM_001370658.1(BTD):c.743dup:p.Tyr248Ter	coding	Pathogenic
3	15644847	CACCTTATAAT	C	A15644848T	BTD	NM_001370658.1(BTD):c.932_941del:p.His311fs	coding	Pathogenic/Likely_pathogenic
3	15644856	ATT	A	T15644857G	BTD	NM_001370658.1(BTD):c.941_942del:p.Ile314fs	coding	Pathogenic/Likely_pathogenic
3	15644865	GT	G	T15644866G	BTD	NM_001370658.1(BTD):c.950del:p.Val317fs	coding	Pathogenic
3	15645018	G	GT	G15645020T	BTD	NM_001370658.1(BTD):c.1103dup:p.Asn369fs	coding	Pathogenic
3	15645832	TG	T	G15645836T	BTD	NM_001370658.1(BTD):c.*348del	noncoding	Benign
3	15645836	GT	G	T15645853A	BTD	NM_001370658.1(BTD):c.*365del	noncoding	Benign
3	18349483	TGGAGGATTCCCAAGGCTTCCACTGAAATTTTTGTTCGTGGCCGGGTCTTCTGTCGGTTTTCCTCATCTGACTCTGCTGGAGAGGCCACCGTGGGTTGCCGTGG	T	A18349486G	SATB1	NM_002971.6(SATB1):c.1876_1978del:p.Pro626fs	coding	Pathogenic
3	18349584	TG	T	G18349590A	SATB1	NM_002971.6(SATB1):c.1877del:p.Pro626fs	coding	Pathogenic
3	18394662	GTC	G	C18394664A	SATB1	NM_002971.6(SATB1):c.1004_1005del:p.Arg335fs	coding	Pathogenic
3	20040197	G	GGCGGCA	A20040214C	KAT2B	Single_allele	noncoding	Benign
3	23917986	AC	A	C23917989G	RPL15	NM_002948.5(RPL15):c.130del:p.Arg44fs	coding	Pathogenic
3	23921572	T	TG	T23921573G	RPL15	NM_001253384.2(RPL15):c.361-26_361-25insG	noncoding	Benign
3	24122908	C	CG	A24122909G	THRB	NM_001354712.2(THRB):c.1361_1362insC:p.Leu454fs	coding	Pathogenic
3	24122928	T	TG	C24122933G	THRB	NM_001354712.2(THRB):c.1341dup:p.Thr448fs	coding	Pathogenic
3	24122964	C	CA	T24122966A	THRB	NM_001354712.2(THRB):c.1305dup:p.Ala436fs	coding	Pathogenic
3	24133695	A	AAGAG	T24133723G	THRB	NM_001354712.2(THRB):c.739-259CT[15]	noncoding	Benign
3	24133695	AAGAG	A	G24133719T	THRB	NM_001354712.2(THRB):c.739-259CT[11]	noncoding	Benign
3	24228921	TA	T	A24228932G	THRB	NM_001354712.2(THRB):c.22+16del	noncoding	Benign
3	25569981	GACACACACAC	G	A25570012T	RARB	NM_000965.5(RARB):c.609+64AC[15]	noncoding	Benign
3	25569981	GACACACAC	G	A25570014T	RARB	NM_000965.5(RARB):c.609+64AC[16]	noncoding	Benign
3	25569981	GACAC	G	A25570018T	RARB	NM_000965.5(RARB):c.609+64AC[18]	noncoding	Benign
3	25569981	GAC	G	A25570020T	RARB	NM_000965.5(RARB):c.609+64AC[19]	noncoding	Benign
3	25594838	TA	T	A25594854C	RARB	NM_000965.5(RARB):c.1150+176del	noncoding	Benign
3	25594838	T	TA	C25594855A	RARB	NM_000965.5(RARB):c.1150+176dup	noncoding	Benign
3	25598482	A	AT	C25598491T	TOP2B	NM_001330700.2(TOP2B):c.4711-13dup	noncoding	Benign
3	25598482	A	ATT	C25598491T	TOP2B	NM_001330700.2(TOP2B):c.4711-7_4711-6dup	noncoding	Benign
3	25609721	TA	T	A25609726G	TOP2B	NM_001330700.2(TOP2B):c.3787-10del	noncoding	Benign
3	25620066	T	TA	G25620070A	TOP2B	NM_001330700.2(TOP2B):c.2863-7dup	noncoding	Benign
3	25629056	CTCT	C	T25629059A	TOP2B	NM_001330700.2(TOP2B):c.1776_1778del:p.Glu593del	coding	Pathogenic
3	25632800	GA	G	A25632809T	TOP2B	NM_001330700.2(TOP2B):c.1027-7del	noncoding	Benign
3	25632800	G	GA	T25632810A	TOP2B	NM_001330700.2(TOP2B):c.1027-7dup	noncoding	Benign
3	25638314	TAAAAAAAAAAAA	T	A25638341G	TOP2B	NM_001330700.2(TOP2B):c.396-16_396-5del	noncoding	Benign
3	25638314	TAAAAAAAAAAA	T	A25638342G	TOP2B	NM_001330700.2(TOP2B):c.396-15_396-5del	noncoding	Benign
3	25638314	TAAAAAAAAAA	T	A25638343G	TOP2B	NM_001330700.2(TOP2B):c.396-14_396-5del	noncoding	Benign
3	25638314	TAAAAAAAAA	T	A25638344G	TOP2B	NM_001330700.2(TOP2B):c.396-13_396-5del	noncoding	Benign
3	25638314	TAAAAAAAA	T	A25638345G	TOP2B	NM_001330700.2(TOP2B):c.396-12_396-5del	noncoding	Benign
3	25638314	TAAAAAAA	T	A25638346G	TOP2B	NM_001330700.2(TOP2B):c.396-11_396-5del	noncoding	Benign
3	25638314	TAAAAAA	T	A25638347G	TOP2B	NM_001330700.2(TOP2B):c.396-10_396-5del	noncoding	Benign
3	25638314	TAAAAA	T	A25638348G	TOP2B	NM_001330700.2(TOP2B):c.396-9_396-5del	noncoding	Benign
3	25638314	T	TAAAAAAAAAAAA	G25638353A	TOP2B	NM_001330700.2(TOP2B):c.396-16_396-5dup	noncoding	Benign
3	25638314	T	TAAAAAAAAAAA	G25638353A	TOP2B	NM_001330700.2(TOP2B):c.396-15_396-5dup	noncoding	Benign
3	25719587	AT	A	T25719588A	NGLY1	NM_018297.4(NGLY1):c.1837del:p.Ile613fs	coding	Pathogenic
3	25719605	G	GA	T25719611A	NGLY1	NM_018297.4(NGLY1):c.1819dup:p.Ser607fs	coding	Pathogenic/Likely_pathogenic
3	25719646	GA	G	A25719656T	NGLY1	NM_018297.4(NGLY1):c.1790-12del	noncoding	Benign
3	25719646	G	GA	T25719657A	NGLY1	NM_018297.4(NGLY1):c.1790-12dup	noncoding	Benign
3	25719882	A	AT	A25719896T	NGLY1	NM_018297.4(NGLY1):c.1789+119dup	noncoding	Benign
3	25720080	T	TTG	T25720082G	NGLY1	NM_018297.4(NGLY1):c.1722_1723insCA:p.Thr575fs	coding	Pathogenic
3	25729228	GA	G	A25729230C	NGLY1	NM_018297.4(NGLY1):c.1515del:p.Arg506fs	coding	Pathogenic
3	25729255	AACAAAGGT	A	A25729256G	NGLY1	NM_018297.4(NGLY1):c.1481_1488del:p.His494fs	coding	Pathogenic/Likely_pathogenic
3	25729294	AG	A	G25729297A	NGLY1	NM_018297.4(NGLY1):c.1449del:p.Cys484fs	coding	Pathogenic
3	25729308	GTTTCT	G	T25729314C	NGLY1	NM_018297.4(NGLY1):c.1431_1435del:p.Lys477fs	coding	Pathogenic
3	25737339	T	TA	T25737342A	NGLY1	NM_018297.4(NGLY1):c.997dup:p.Tyr333fs	coding	Pathogenic
3	25737388	T	TAAAACAATTGGCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A25737403G	NGLY1	NM_018297.4(NGLY1):c.948_949insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGGCCAATTGTTTT:p.Thr317delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer	coding	Pathogenic
3	25737431	CAA	C	A25737434G	NGLY1	NM_018297.4(NGLY1):c.904_905del:p.Leu302fs	coding	Pathogenic
3	25737468	GA	G	A25737476C	NGLY1	NM_018297.4(NGLY1):c.882-14del	noncoding	Benign
3	25737468	G	GA	C25737477A	NGLY1	NM_018297.4(NGLY1):c.882-14dup	noncoding	Benign/Likely_benign
3	25739676	T	TC	T25739678C	NGLY1	NM_018297.4(NGLY1):c.781dup:p.Asp261fs	coding	Pathogenic
3	25751271	G	GA	C25751283A	NGLY1	NM_018297.4(NGLY1):c.493-19dup	noncoding	Benign
3	25764328	T	TA	T25764337A	NGLY1	NM_018297.4(NGLY1):c.247-18dup	noncoding	Benign
3	25778642	CT	C	T25778643G	NGLY1	NM_018297.4(NGLY1):c.177del:p.Ala60fs	coding	Pathogenic
3	25783376	T	TGCCGCCGCCGCCATGCTTGAGCGCCAGCGGGCGCCGCCGCCGCCATGCTTGAGCGCCAGCGGGC	C25783421A	NGLY1	NM_018297.4(NGLY1):c.-18GCCCGCTGGCGCTCAAGCATGGCGGCGGCGGC[3]:p.Leu6fs	coding	Pathogenic
3	27301709	G	GA	G27301713A	NEK10	NM_001394966.1(NEK10):c.1154dup:p.Ser386fs	coding	Pathogenic
3	30622913	GGAAAAA	G	A30622928G	TGFBR2	NM_003242.6(TGFBR2):c.94+15937GAAAAA[2]	noncoding	Benign
3	30644930	TA	T	A30644932G	TGFBR2	NM_003242.6(TGFBR2):c.263+17del	noncoding	Benign
3	30650073	GA	G	A30650077G	TGFBR2	NM_003242.6(TGFBR2):c.264-193del	noncoding	Benign
3	30671620	GT	G	T30671624G	TGFBR2	NM_003242.6(TGFBR2):c.455-14del	noncoding	Benign
3	30688433	CT	C	T30688434G	TGFBR2	NM_003242.6(TGFBR2):c.1447del:p.Cys483fs	coding	Pathogenic
3	30691909	TTA	T	A30691927C	TGFBR2	NM_003242.6(TGFBR2):c.*312AT[8]	noncoding	Benign
3	30691909	T	TTA	C30691929A	TGFBR2	NM_003242.6(TGFBR2):c.*312AT[10]	noncoding	Benign
3	31532901	T	TTCCTCC	G31532923T	STT3B	Single_allele	noncoding	Benign
3	31579699	GC	G	C31579700T	STT3B	NM_178862.3(STT3B):c.424-109del	noncoding	Benign
3	31579736	T	TAAA	G31579737A	STT3B	NM_178862.3(STT3B):c.424-73_424-72insAAA	noncoding	Benign
3	31617186	C	CT	G31617202T	STT3B	NM_178862.3(STT3B):c.1123+126dup	noncoding	Benign
3	31617186	C	CTT	G31617202T	STT3B	NM_178862.3(STT3B):c.1123+125_1123+126dup	noncoding	Benign
3	31618287	T	TTACCTAACA	T31618290C	STT3B	NM_178862.3(STT3B):c.1172+301_1172+302insCCTAACATA	noncoding	Benign
3	31622023	A	AGTGTG	T31622026G	STT3B	NM_178862.3(STT3B):c.1328-72_1328-71insGTGGT	noncoding	Benign
3	31624764	CT	C	T31624774C	STT3B	NM_178862.3(STT3B):c.1728-140del	noncoding	Benign
3	31632669	GT	G	T31632685A	STT3B	NM_178862.3(STT3B):c.2188-250del	noncoding	Benign
3	31632669	GTT	G	T31632684A	STT3B	NM_178862.3(STT3B):c.2188-251_2188-250del	noncoding	Benign
3	32106479	CGGGCCTGGAGGCCGGCCG	C	T32106485A	GPD1L	Single_allele	noncoding	Benign
3	32127920	AGTTTCAAATG	A	T32127922C	GPD1L	NM_015141.4(GPD1L):c.48-154_48-145del	noncoding	Benign
3	32138468	T	TAGAC	T32138470G	GPD1L	NM_015141.4(GPD1L):c.226-118_226-117insGACA	noncoding	Benign
3	32159465	TA	T	A32159480G	GPD1L	NM_015141.4(GPD1L):c.853-88del	noncoding	Benign
3	32159465	T	TA	G32159481A	GPD1L	NM_015141.4(GPD1L):c.853-88dup	noncoding	Benign
3	32159480	AG	A	G32159481A	GPD1L	NM_015141.4(GPD1L):c.853-87del	noncoding	Benign
3	33014155	G	GT	G33014158T	GLB1	NM_000404.4(GLB1):c.1634dup:p.Asn545fs	coding	Pathogenic/Likely_pathogenic
3	33014188	G	GTGGC	C33014193T	GLB1	NM_000404.4(GLB1):c.1598_1601dup:p.His534fs	coding	Pathogenic
3	33014199	C	CACGG	T33014204A	GLB1	NM_000404.4(GLB1):c.1587_1590dup:p.Asp531delinsProTer	coding	Pathogenic
3	33014206	TCCCCAGCCCC	T	C33014209A	GLB1	NM_000404.4(GLB1):c.1574_1583del:p.Gly525fs	coding	Pathogenic
3	33014206	T	TCCCCAGCC	G33014221C	GLB1	NM_000404.4(GLB1):c.1576_1583dup:p.His529fs	coding	Pathogenic
3	33018458	G	GC	A33018460C	GLB1	NM_000404.4(GLB1):c.1336dup:p.Ala446fs	coding	Pathogenic
3	33018484	AT	A	T33018486G	GLB1	NM_000404.4(GLB1):c.1310del:p.Asn437fs	coding	Pathogenic
3	33021607	TG	T	G33021610C	GLB1	NM_000404.4(GLB1):c.1191del:p.Ile398fs	coding	Pathogenic
3	33024236	A	AT	C33024246T	GLB1	NM_000404.4(GLB1):c.1143+14dup	noncoding	Benign
3	33024236	AT	A	T33024245C	GLB1	NM_000404.4(GLB1):c.1143+14del	noncoding	Benign
3	33024251	CT	C	T33024255C	GLB1	NM_000404.4(GLB1):c.1142del:p.Lys381fs	coding	Pathogenic/Likely_pathogenic
3	33046222	TGA	T	A33046224T	GLB1	NM_000404.4(GLB1):c.964_965del:p.Ser322fs	coding	Pathogenic
3	33051603	CA	C	A33051619G	GLB1	NM_000404.4(GLB1):c.955+154del	noncoding	Benign
3	33051603	C	CA	G33051620A	GLB1	NM_000404.4(GLB1):c.955+139dup	noncoding	Benign
3	33051615	A	AAAAAAAAAG	G33051620A	GLB1	NM_000404.4(GLB1):c.955+142_955+143insTTTTCTTTT	noncoding	Benign
3	33051626	G	GA	G33051636A	GLB1	NM_000404.4(GLB1):c.955+123dup	noncoding	Benign
3	33051664	AG	A	G33051666A	GLB1	NM_000404.4(GLB1):c.955+93del	noncoding	Benign
3	33052011	C	CA	G33052019A	GLB1	NM_000404.4(GLB1):c.793-14dup	noncoding	Benign
3	33058230	C	CA	T33058235A	GLB1	NM_000404.4(GLB1):c.591dup:p.Asp198Ter	coding	Pathogenic
3	33065541	CA	C	A33065542C	GLB1	NM_000404.4(GLB1):c.473del:p.Val158fs	coding	Pathogenic
3	33068258	CTCTT	C	T33068262C	GLB1	NM_000404.4(GLB1):c.425_428del:p.Lys142fs	coding	Pathogenic
3	33068943	GGGC	G	G33068944T	GLB1	NM_000404.4(GLB1):c.270_272del:p.Glu90_Pro91delinsAsp	coding	Pathogenic
3	33097006	C	CT	A33097009T	GLB1	NM_000404.4(GLB1):c.75+4dup	noncoding	Pathogenic
3	33097517	CT	C	T33097518C	GLB1	Single_allele	noncoding	Benign
3	33114093	C	CGG	C33114100G	CRTAP	NM_006371.5(CRTAP):c.21_22dup:p.Ala8fs	coding	Pathogenic
3	33114093	CGGGGGGCCGCGGCGCT	C	G33114095C	CRTAP	NM_006371.5(CRTAP):c.18_33del:p.Arg6_Gly7insTer	coding	Pathogenic
3	33114098	GGCCGCGGC	G	C33114101T	CRTAP	NM_006371.5(CRTAP):c.24_31del:p.Ala10fs	coding	Pathogenic
3	33114132	TGCGCGCTGCGCGCCGG	T	T33114139C	CRTAP	NM_006371.5(CRTAP):c.62_77del:p.Leu21fs	coding	Pathogenic
3	33114348	G	GCGCCGCAGCCCGAGCC	C33114371A	CRTAP	NM_006371.5(CRTAP):c.278_293dup:p.Gly99fs	coding	Pathogenic
3	33114480	AG	A	G33114481C	CRTAP	NM_006371.5(CRTAP):c.404del:p.Ser135fs	coding	Pathogenic
3	33119498	A	AT	C33119508T	CRTAP	NM_006371.5(CRTAP):c.472-837dup	noncoding	Benign
3	33119520	ATTG	A	G33119523A	CRTAP	NM_006371.5(CRTAP):c.472-821_472-819del	noncoding	Benign
3	33124514	GTC	G	T33124517G	CRTAP	NM_006371.5(CRTAP):c.731_732del:p.Leu244fs	coding	Pathogenic
3	33132631	GA	G	A33132633C	CRTAP	NM_006371.5(CRTAP):c.1001del:p.Asn334fs	coding	Pathogenic
3	33798874	T	TGCGCC	A33798887G	PDCD6IP	NM_013374.6(PDCD6IP):c.154_158dup:p.Val54fs	coding	Pathogenic
3	36993163	CGCTCTGCGCCAGATCACCTCAGCAGAGGCACACAAGCCCGGTTCCGGCATCTCTGCTCCTATTGGCTGGATATTTCGTATTCCCCGAGCTCCTAAAAACGAACCAATAGGAAGAGCGGACAGCGATCTCTAACGCGCAAGCGCATATCCTTCTAGGTAGCGGGCAGTAGCCGCTTCAGGGAGGGACGAAGAGACCCAGCAACCCACAGAGTTGAGAAATTTGACTGGCATTCAAGCTGTCCAATCAATAGCTGCCGCTGAAGGGTGGGGCTGGATGGCGTAAGCTACAGCTGAAGGAAGAACGTGAGCACGAGGCACTGAGGTGATTGGCTGAAGGCACTTCCGTTGAGCATCTAGACGTTTCCTTGGCTCTTCTGGCGCCAAAATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAGCCGGGCTCACTTAAGGGCTACGACTTAACGGGCCGCGTCACTCAATGGCGCGGACACGCCTCTTTGCCCGGGCAGAGGCATGTACAGCGCATGCCCACAACGGCGGAGGCCGCCGGGTTCCCTGACGTGCCAGTCAGGCCTTCTCCTTTTCCGCAGACCGTGTGTTTCTTTACCGCTCTCCCCCGAGACCTTTTAAGGGTTGTTTGGAGTGTAAGTGGAGGAATATACGTAGTGTTGTCTTAATGGTACCGTTAACTAAGTAAGGAAGCCACTTAATTTAAAATTATGTATGCAGAACATGCGAAGTTAAAAGATGTATAAAAGCTTAAGATGGGGAGAAAAACCTTTTTTCAGAGGGTACTGTGTTACTGTTTTCTTGCTTTTCATTCATTCCAGAAATCATCTGTTCACATCCAAAGGCACAATTCATTTTGAGTTTCTTTCAAAACAAATCGTTTGTAGTTTTAGGACAGGCTGATGCACTTTGGGCTTGACTTCTGATTACCCTATTGTTAAATTAGTGACCCCTCTTAGTGTTTTCCTGTCCTTTATTTCGGAGGACGCACTTCGAAGATACCAGATTTTATGGGTCATCCTTGGATTTTGAAGCTTATAACTGTGACAAAAAATGTGAAGGGAAGAGATTTGAAACATGTGGAAGGAAAAGTGAGTGCAGACTATAAACTTCCAAAAAGACAAGCCCAAAATACACCTAAACGTTATGTCAGATTATTTTGTTAAAATCAGTTGTTAGTGACGTCCGTACGTTAATAGAAAAAAGAATGCTTCAGTTTGGAGTGGTAGGTTTCTAGAGGGATTTATTGTGAAAGTATAAACTATTCAGGGCAATGGGACTGAGAGAACAGTGGGTAGAAAGGACCACTGAAGGAAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTGTCAAAACTCTCGATCTCAGGTGAACCGCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATTTCCTGACCTCAGGTGATCTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGCGCCCGGCTCAAGTGGAGATTTTTATATGGAGTCCAGTTATACTCTTTTTAATATATAAGTTGAGATGACTAATACAACTTCAATACAGGGGCTCATGAGAAATGTCTGTAATATTTAAGTAACTTATTGTCTTCTTTCTTTTTTTTTTAAGATGAAGTCTTACTCTGTTGCCCAGGCGGAAGTGCAGTGGCGTGATCTTGGCTCAGGGCAACCTCTGCCTCCTGGTTTCAAGCGATCTTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGTGCATGACCACACCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCCAAGTGTTGGGATTACAGGTGTGAGCCCCCGTGCCCAGCCTATTATCTTATTTCTGAATAAAGAATTGTCTGTGTGGGGAATAGATAACTCTTTCTCATGCAGCCCCTGCTAGAAAATTTGTTTTCTCTAGCAGTTGGTCTGTGCTTATAGGCTACTCTTTGAAAGCACAAAAAATTTATTGACTTCTTTTTTTTGGGTTTTTTTTTTTTTTTGAGACAGAGTTTTGCCCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTA	C	C36993167T	MLH1	NM_000249.3(MLH1):c.-381_207+606del	noncoding	Pathogenic
3	36993509	TGAGCATCTAGACGTTTCCTTGGCTCTTCTGGCGCCAAAATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAGCCGGGCTCACTTAAGGGCTACGACTTAACGGGCCGCGTCACTCAATGGCGCGGACACGCCTCTTTGCCCGGGCAGAGGCATGTACAGCGCATGCCCACAACGGCGGAGGCCGCCGGGTTCCCTGACGTGCCAGTCAGGCCTTCTCCTTTTCCGCAGACCGTGTGTTTCTTTACCGCTCTCCCCCGAGACCTTTTAAGGGTTGTTTGGAGTGTAAGTGGAGGAATATACGTAGTGTTGTCTTAATGGTACCGTTAACTAAGTAAGGAAGCCACTTAATTTAAAATTATGTATGCAGAACATGCGAAGTTAAAAGATGTATAAAAGCTTAAGATGGGGAGAAAAACCTTTTTTCAGAGGGTACTGTGTTACTGTTTTCTTGCTTTTCATTCATTCCAGAAATCATCTGTTCACATCCAAAGGCACAATTCATTTTGAGTTTCTTTCAAAACAAATCGTTTGTAGTTTTAGGACAGGCTGATGCACTTTGGGCTTGACTTCTGATTACCCTATTGTTAAATTAGTGACCCCTCTTAGTGTTTTCCTGTCCTTTATTTCGGAGGACGCACTTCGAAGATACCAGATTTTATGGGTCATCCTTGGATTTTGAAGCTTATAACTGTGACAAAAAATGTGAAGGGAAGAGATTTGAAACATGTGGAAGGAAAAGTGAGTGCAGACTATAAACTTCCAAAAAGACAAGCCCAAAATACACCTAAACGTTATGTCAGATTATTTTGTTAAAATCAGTTGTTAGTGACGTCCGTACGTTAATAGAAAAAAGAATGCTTCAGTTTGGAGTGGTAGGTTTCTAGAGGGATTTATTGTGAAAGTATAAACTATTCAGGGCAATGGGACTGAGAGAACAGTGGGTAGAAAGGACCACTGAAGGAAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTGTCAAAACTCTCGATCTCAGGTGAACCGCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATTTCCTGACCTCAGGTGATCTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGCGCCCGGCTCAAGTGGAGATTTTTATATGGAGTCCAGTTATACTCTTTTTAATATATAAGTTGAGATGACTAATACAACTTCAATACAGGGGCTCATGAGAAATGTCTGTAATATTTAAGTAACTTATTGTCTTCTTTCTTTTTTTTTTAAGATGAAGTCTTACTCTGTTGCCCAGGCGGAAGTGCAGTGGCGTGATCTTGGCTCAGGGCAACCTCTGCCTCCTGGTTTCAAGCGATCTTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGTGCATGACCACACCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCCAAGTGTTGGGATTACAGGTGTGAGCCCCCGTGCCCAGCCTATTATCTTATTTCTGAATAAAGAATTGTCTGTGTGGGGAATAGATAACTCTTTCTCATGCAGCCCCTGCTAGAAAATTTGTTTTCTCTAGCAGTTGGTCTGTGCTTATAGGCTACTCTTTGAAAGCACAAAAAATTTATTGACTTCTTTTTTTTGGGTTTTTTTTTTTTTTTGAGACAGAGTTTTGCCCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTAGCTTTTTTTCTGAATATGGTGGGATACTGTTAGAGGGTTTTAAGCAGAGGTTACGTGGTGTGGTGAGTTTTTTTTTTTTAATCCTTTGTCTTTCTGTGTGGAAAATAGCAGGACAGGGCAGAAGCAGTCTGTCCTGCAGACTGCTTGGTCGCAGTAGAGATGTAAGAAGCAGTGAGATTCTGGGTTAATTATGGAGGCAAAGTTCTCAGAATTTGCTGATATAGGGTATGAGAGAAAGAGGAATCAGGAATGATTTCAAGGTTTTGGTCTGCTAAATGGAAGGAGTTGCCATTTACTAAGATGGGAAAGACTATGAAAGAAGCAGATTTTCAGAGAGATCAGAAGTTCATTTTGGGGCATGTTCAATTTAAGATGCCTGTTAGTTGGATGTTTATGTGAGTTTGGAATGCAGGGTAGAGATTTAGGGATGAATATTTGGTAGTTGTCTGCATTTTAATGGTATTAAAAGCCACGAGAAGGATGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATATAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGATGAGCCGAGATCGCACCGTTGCACTCCAGCTTGGGCAACAAGAGCAAAACTCCATCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTTGAGACTCACCTGAAAAGATGCTCAACATTATTGGTCATTAGGAAAATGAATGAAAACCACAATGAGATACCACTTCACACCTATTAGGATGGCTATTATCAAAAACAAAAACAAGTGTTTGCAAGGATGTAGAGATTGGAATTCTTGTGTATTGCTAGAGGGAATGTAAAATAGTGCAGGGTGCTGTGGAAAATGCTGTGGTGATTCCTCAAAAAATTAAACATAATTATATAATCCAGTAATTCCACTTCTGAGTTATTCCCAAAAGAAGGGATGCAAGCAGATATTTGTACACTCATATTCATGGCAGCATTATTTACAGTAGCCAAAAGGTGAAAGCAACCTAAGTGTCCGTCAGTGGATGAATGGATAAACAAAATGGAATAATTTCAGCCTTAAATAGAAATAAAATGTTGACACATGTTGCAACATATACGAACCTTGAAGACATCATGTTAAGTTAAATAAGTTGGTCACTAAAGGACAAATATTGTATGATTCCCCTTATGAGGTTCCTAGAGTAGTCACATTCATAGAGACAGTAGAGTGGTGGTTGCCCAGGGCCGGGGGGAGCGAGGAGAATGGAAATTATTGTTTATTGGGTACAGAGTTTCTGTTTGGGGAAGATGAAAAAATTCTGGAGATGGATCATGATGATAGTTAACACAGCAGTGTGAATATAGTTAATGGCACAGAACTGTACATTTAAAAATGGTTAAGATGGAAAATTTTCTGTTACATATATTTTACTGCAATTTTTTTAAATTTTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC	T	G36993510T	MLH1	Single_allele	noncoding	Pathogenic
3	36993540	GCGCCAAAA	G	C36993541T	MLH1	NM_000249.4(MLH1):c.-7_1del:p.Met1fs	noncoding	Pathogenic/Likely_pathogenic
3	36993545	AAAATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTGG	A	A36993546T	MLH1	NM_000249.4(MLH1):c.-2_116+1del	noncoding	Pathogenic
3	36993556	CGT	C	T36993558G	MLH1	NM_000249.4(MLH1):c.11_12del:p.Val4fs	coding	Pathogenic
3	36993561	CA	C	A36993562G	MLH1	NM_000249.4(MLH1):c.15del:p.Val7fs	coding	Pathogenic
3	36993567	T	TTATTCGGCGGC	G36993580A	MLH1	NM_000249.4(MLH1):c.22_32dup:p.Asp12fs	coding	Pathogenic
3	36993568	TA	T	A36993569T	MLH1	NM_000249.4(MLH1):c.22del:p.Ile8fs	coding	Pathogenic
3	36993579	TGGACGAGACAGTG	T	G36993581T	MLH1	NM_000249.4(MLH1):c.34_46del:p.Leu11_Asp12insTer	coding	Pathogenic/Likely_pathogenic
3	36993580	GGAC	G	C36993583G	MLH1	NM_000249.4(MLH1):c.36_38del:p.Asp12del	coding	Pathogenic
3	36993581	GAC	TAA	G36993581T	MLH1	NM_000249.4(MLH1):c.34_36delinsTAA:p.Asp12Ter	coding	Pathogenic
3	36993581	GA	G	A36993582C	MLH1	NM_000249.4(MLH1):c.35del:p.Asp12fs	coding	Pathogenic
3	36993583	CGA	C	G36993586C	MLH1	NM_000249.4(MLH1):c.39_40del:p.Glu13fs	coding	Pathogenic
3	36993584	GA	G	A36993585G	MLH1	NM_000249.4(MLH1):c.38del:p.Glu13fs	coding	Pathogenic
3	36993588	C	CG	A36993589G	MLH1	NM_000249.4(MLH1):c.41_42insG:p.Val15fs	coding	Pathogenic
3	36993597	ACCGCATCG	A	C36993599G	MLH1	NM_000249.4(MLH1):c.52_59del:p.Arg18fs	coding	Pathogenic
3	36993599	CGCAT	C	G36993600C	MLH1	NM_000249.4(MLH1):c.53_56del:p.Arg18fs	coding	Pathogenic
3	36993599	CGCATCGCGGCGGGGGAAGTTATCCA	C	A36993602G	MLH1	NM_000249.4(MLH1):c.55_79del:p.Ile19fs	coding	Pathogenic
3	36993602	ATCGCGGCG	T	A36993602T	MLH1	NM_000249.4(MLH1):c.55_63delinsT:p.Ile19fs	coding	Pathogenic
3	36993611	G	GC	G36993612C	MLH1	NM_000249.4(MLH1):c.64_65insC:p.Gly22fs	coding	Pathogenic
3	36993614	GA	G	A36993616G	MLH1	NM_000249.4(MLH1):c.69del:p.Val24fs	coding	Pathogenic
3	36993641	A	AT	C36993643T	MLH1	NM_000249.4(MLH1):c.95dup:p.Lys33fs	coding	Pathogenic
3	36993643	C	CAA	G36993647A	MLH1	NM_000249.4(MLH1):c.98_99dup:p.Glu34fs	coding	Pathogenic
3	36993647	GAGAT	G	A36993648G	MLH1	NM_000249.4(MLH1):c.101_104del:p.Glu34fs	coding	Pathogenic
3	36993660	AC	A	C36993661T	MLH1	NM_000249.4(MLH1):c.114del:p.Cys39fs	coding	Pathogenic
3	36995927	GATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTAGCTTTTTTTCTGAATATGGTGGGATACTGTTAGAGGGTTTTAAGCAGAGGTTACGTGGTGTGGTGAGTTTTTTTTTTTTAATCCTTTGTCTTTCTGTGTGGAAAATAGCAGGACAGGGCAGAAGCAGTCTGTCCTGCAGACTGCTTGGTCGCAGTAGAGATGTAAGAAGCAGTGAGATTCTGGGTTAATTATGGAGGCAAAGTTCTCAGAATTTGCTGATATAGGGTATGAGAGAAAGAGGAATCAGGAATGATTTCAAGGTTTTGGTCTGCTAAATGGAAGGAGTTGCCATTTACTAAGATGGGAAAGACTATGAAAGAAGCAGATTTTCAGAGAGATCAGAAGTTCATTTTGGGGCATGTTCAATTTAAGATGCCTGTTAGTTGGATGTTTATGTGAGTTTGGAATGCAGGGTAGAGATTTAGGGATGAATATTTGGTAGTTGTCTGCATTTTAATGGTATTAAAAGCCACGAGAAGGATGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATATAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGATGAGCCGAGATCGCACCGTTGCACTCCAGCTTGGGCAACAAGAGCAAAACTCCATCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTTGAGACTCACCTGAAAAGATGCTCAACATTATTGGTCATTAGGAAAATGAATGAAAACCACAATGAGATACCACTTCACACCTATTAGGATGGCTATTATCAAAAACAAAAACAAGTGTTTGCAAGGATGTAGAGATTGGAATTCTTGTGTATTGCTAGAGGGAATGTAAAATAGTGCAGGGTGCTGTGGAAAATGCTGTGGTGATTCCTCAAAAAATTAAACATAATTATATAATCCAGTAATTCCACTTCTGAGTTATTCCCAAAAGAAGGGATGCAAGCAGATATTTGTACACTCATATTCATGGCAGCATTATTTACAGTAGCCAAAAGGTGAAAGCAACCTAAGTGTCCGTCAGTGGATGAATGGATAAACAAAATGGAATAATTTCAGCCTTAAATAGAAATAAAATGTTGACACATGTTGCAACATATACGAACCTTGAAGACATCATGTTAAGTTAAATAAGTTGGTCACTAAAGGACAAATATTGTATGATTCCCCTTATGAGGTTCCTAGAGTAGTCACATTCATAGAGACAGTAGAGTGGTGGTTGCCCAGGGCCGGGGGGAGCGAGGAGAATGGAAATTATTGTTTATTGGGTACAGAGTTTCTGTTTGGGGAAGATGAAAAAATTCTGGAGATGGATCATGATGATAGTTAACACAGCAGTGTGAATATAGTTAATGGCACAGAACTGTACATTTAAAAATGGTTAAGATGGAAAATTTTCTGTTACATATATTTTACTGCAATTTTTTTAAATTTTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAAGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTCGAGAAGTGTCTGTTCATATCCTTCACTCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGAGTTCATTGAAAAATTAGAATTTTTTTTTTTTTCCCTTTTTTAGAGGCAAGGTCTCACTCTGTCGCCCACACTGGAGTGCAGTAGTGTAAGCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAATTCTGTCATCTCAGCCAGCTGAAGTAGTAACTGTAGGTTCACACCACCATGCCTATTTTTGTTTTTGTAGAAATAGGGCCTTGCTTTGTTGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGCAGTCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCCAGCCTTGGAGATTTTTAATAAAGAAGCTTGTCAATTAAACAAACAACAAAAAGCCCTGAGACTGAATGAGATAATCAAGAGAGTATGTGTAGATAGAGAAGAGGTCCAAGGAAGGAGTCTTGGGTGACTCTGATGTCAAGTGAGGACATGAGGCAGAAACAGCAGTGACTGAGAAGGAGCCACCTAGTAAGAAAGGAGGAACACCAGGACAGTGTGGTATTCTGGATTCCAAACAAGGAAGTTACTGCTAATTTTAAAGCTCTTCTCAGGCTGGGCATGGTGGCTCACACCTGTAGTCCCAGCACTTCGGGAGGCTGAGGTAGGTAAATCACTTGAGCTCATGTGTTTGAGACCAGCTTGGGCAACATGGTGAAACCTCATCTCTACTAAAAATATAAGAAATTAAGGCCAGGTGTGGTAGTTCATGCCTGTAATCCCAGTGCTTTGGGAGGTCAAGGCAGCCAGATCATTTGAGATCAGGAGTTCGAGACCAGCATGGCCAGCATAGTGAAGCCCCATCTCTACTAAAAATACAAGAAAAAATTAACCAAGCATGGTGGCGCATACCTGTAATCCCAGCCACTCTGGAGGCTGAGACATGAAAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACAAAAACCAAGAAAAGAAAAAAAAACTCTTCTAAGAGGATTTTTTTTTCCTGGATTAAATCAAGAAAATGGGAATTCAAAGAGATTTGGAAAAATGAGTAACATGATTATTTACTCATCTTTTTGGTATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGCCAGTATTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAATGTGTAAAATATCCTCCTGTGATGACATTGTCTGTCATTTGTTAGTATGTATTTCTCAACATAGATAAATAAGGTTTGGTACCTTTTACTTGTTAAATGTATGCAAATCTGAGCAAACTTAATGAACTTTAACTTTCAAAGACTGAGAATTGTTCATAAATAAACTATTTTACCTGCAGAGACCTCTGATATATGTTTCTTGATGGAAGTACCCAGTACCACCTATGAAGTTTTCTTGTCAAAAAATCAAATGTGAATCTGATCATTACTTAGATCTAAGTACCAATATATGAAAAATATAGGAGACAAGGAAGCATGGTAAATGATACTGAGATTGGGAGACTACATGGAAAAAGACTTGTTCCCTTCAACAGATAGACAGCAGGGAAAAAAGAATAGAGAAAGGAGTAAAGAACCTGTAGATTAAAAGACATTTAAGGGACATATGAACCAGGTCCAGTGTATAGATCTTACCTAAATCCTGATGGAGCAAACTATAAAAAAATTTTTTTGAGACAAATGTTTGAATACAGGTTGACTATTTGATGGCATTAAGGAGAAATTATGAATTATCTTGGTATAAGAATATTGTCATGGGTTTTTTTTTTTGAGTCCTTACCTGTTAAGATACATACTAAAATATTTGTGGGTAAAATTATATGACGTATAGGAGTATATGATTTAGAAAACGGATTAAAATATAAAAGGATAAAATAGGATCTTATATTTTGTGACTCACTTCCTGTTGGATATCTTTCTACCCAGTAAATATAGTCCTATCTAGGTTTTAATGGCTACATGTATGTACTGTAGTTTGTTTAAATGGTTTCCTATTGAACATTTATGCTCTTTGCCATTTTTTCCTGTTTAACGTTCTGTTTTTTTTTTTGTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTTATCCAGACTGGAGTGCAGTGACATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCTA	G	A36995928T	MLH1	NM_000249.4(MLH1):c.117-691_306+1011del	noncoding	Pathogenic
3	36996617	AG	A	G36996618T	MLH1	NM_000249.4(MLH1):c.117-1del	noncoding	Pathogenic
3	36996622	AG	A	G36996623A	MLH1	NM_000249.4(MLH1):c.121del:p.Asp41fs	coding	Pathogenic
3	36996626	G	GC	A36996628C	MLH1	NM_000249.4(MLH1):c.125dup:p.Ser44fs	coding	Pathogenic
3	36996627	CA	C	A36996631T	MLH1	NM_000249.4(MLH1):c.129del:p.Lys43fs	coding	Pathogenic
3	36996629	AAATCC	A	A36996631C	MLH1	NM_000249.4(MLH1):c.129_133del:p.Lys43fs	coding	Pathogenic
3	36996629	AAATCCACAAG	A	A36996630T	MLH1	NM_000249.4(MLH1):c.128_137del:p.Lys43fs	coding	Pathogenic
3	36996644	CA	C	A36996646G	MLH1	NM_000249.4(MLH1):c.144del:p.Gln48_Val49insTer	coding	Pathogenic
3	36996647	G	GTGATTGTTAAAGAGGGAGGCCTGAAGTTGAT	C36996680G	MLH1	NM_000249.4(MLH1):c.147_177dup:p.Gln60delinsAspCysTer	coding	Pathogenic
3	36996652	TGTTAAAGAGGGAG	T	T36996654C	MLH1	NM_000249.4(MLH1):c.152_164del:p.Val51fs	coding	Pathogenic
3	36996655	T	TAAAGAGGGAGGCCTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A36996671C	MLH1	NM_000249.4(MLH1):c.168_169insCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAGGCCTG:p.Lys57delinsProValValProAlaThrArgGluAlaGluAlaGlyGluTrpArgGluProGlyArgArgSerLeuGlnTer	coding	Pathogenic
3	36996662	G	GT	G36996663T	MLH1	NM_000249.4(MLH1):c.160_161insT:p.Gly54fs	coding	Pathogenic
3	36996670	GA	G	A36996672G	MLH1	NM_000249.4(MLH1):c.170del:p.Lys57fs	coding	Pathogenic
3	36996677	AT	A	T36996679C	MLH1	NM_000249.4(MLH1):c.177del:p.Gln60fs	coding	Pathogenic
3	36996694	TGGCACCGG	T	G36996696A	MLH1	NM_000249.4(MLH1):c.194_201del:p.Gly65fs	coding	Pathogenic
3	36996695	GGCACCGGG	C	G36996695C	MLH1	NM_000249.4(MLH1):c.193_201delinsC:p.Gly65fs	coding	Pathogenic
3	36996696	G	GAT	C36996697A	MLH1	NM_000249.4(MLH1):c.194_195insAT:p.Thr66fs	coding	Pathogenic
3	36996697	CACCGGGATCAGGGTAAGTAAAACCTCAAAGT	C	C36996699G	MLH1	NM_000249.4(MLH1):c.197_207+20del	coding	Pathogenic
3	37000953	AGAAAGAAGATCTG	A	A37000956T	MLH1	NM_001354629.2(MLH1):c.208-3445_208-3433del	noncoding	Pathogenic/Likely_pathogenic
3	37000954	GA	G	A37000957G	MLH1	NM_000249.4(MLH1):c.210del:p.Glu71fs	noncoding	Pathogenic
3	37000954	G	GA	G37000958A	MLH1	NM_000249.4(MLH1):c.210dup:p.Glu71fs	noncoding	Pathogenic
3	37000967	GATATTGT	G	A37000970G	MLH1	NM_000249.4(MLH1):c.223_229del:p.Ile75fs	coding	Pathogenic
3	37000973	G	GT	A37000975T	MLH1	NM_000249.4(MLH1):c.227dup:p.Cys77fs	coding	Pathogenic
3	37000973	GT	G	T37000974A	MLH1	NM_000249.4(MLH1):c.227del:p.Val76fs	coding	Pathogenic
3	37000979	GA	G	A37000982G	MLH1	NM_000249.4(MLH1):c.235del:p.Arg79fs	coding	Pathogenic
3	37000979	G	GA	G37000983A	MLH1	NM_000249.4(MLH1):c.235dup:p.Arg79fs	coding	Pathogenic
3	37000984	GT	TGTTATA	G37000984T	MLH1	NM_000249.4(MLH1):c.237_238delinsTGTTATA:p.Arg79fs	coding	Pathogenic
3	37001011	T	TC	G37001012C	MLH1	NM_000249.4(MLH1):c.264_265insC:p.Glu89fs	coding	Pathogenic
3	37001023	C	CAG	T37001026A	MLH1	NM_000249.4(MLH1):c.277_278dup:p.Ser93fs	coding	Pathogenic
3	37001030	TCTAC	T	C37001034T	MLH1	NM_000249.4(MLH1):c.287_290del:p.Thr96fs	coding	Pathogenic
3	37001033	A	GC	A37001033G	MLH1	NM_000249.4(MLH1):c.286delinsGC:p.Thr96fs	coding	Pathogenic
3	37004155	CACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCAACCTTAAAATAAATAAATAAATAAGGGAAAATATCTTCAACAAAGGATAGTTCTGTCTGTTTCTCAGTCTTCCTCAACAGATAAATGTGTGAAGTAATGGAAGGTGGAGATTTCAGATTACACAACATTAATGCTAAGGGCGTTTGACTCTGTGTGAATTCTAATTGCCCTAGATCTAGACGGGCTGATACTATTAGAATCCCCTGTCACTAACTGAAGACAGAGTTGTAAGTTAATGCCTTCCTAGATAGCCTAGATTGTGGTATGCTGCTGCATGCTAAAATGGCTCCCCTTCCATAGCAGGATGAAATAGAGTCATTATCTTGGCAACCAGCCCCTGCCAATGTGCTCTCAGTCTGCCTTTCCAGCCCCTTCTCTCTACCTATTCCCAGCTGCCATGTATTCTAAAGCCTCTATGCTTTCATTTTTGTTTTTGCCTTCCTGGATGGTCTTTCCTGCTGTCTCCACCTGAAACTATTCCTCTCTAAAGAACAGATGAATTGCCATCTCTCTGGGATGCTTTTACCCACCCTCACTCCCACCTCAGGCTGAATGGACCCTTCTCTAGATCGCTTAGCATATTGTTCTACAGTTAGGTAAAAAGTCTACCTATCACTAGATCAAGAGCTTTGTTTTTTTTTATTAATTTAATTTTCTTTTTTTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCGCCGAGCCCCAAGACCTTTCTTTATTACCAGGGCTTCCACAGACCTGACACATGGTAGTTCCTCAATAAATAATTGCAGAATTACTGAAAAATTTTACTGTTAACTTAGGCAGTGGTAAAACCATTGTTTGGTAGCTCAGAACTCAGCAAGTAAATAGCAACATTTGCTGGAAGAACAGATAGTTTTTCAAATCCAATTCAAGGACTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTGACCACCATGTGATTTCCAAGAACTTCAAATGATCTAAGAAATTTTGTGATTATTACTAGTTTGAAAAATACTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAAT	C	C37004157T	MLH1	NM_000249.4(MLH1):c.307-244_454-364del	noncoding	Pathogenic
3	37004414	T	TA	G37004417A	MLH1	NM_000249.4(MLH1):c.322dup:p.Ser108fs	coding	Pathogenic
3	37004425	GCTCATGTTACTATTACAACGAA	G	C37004426A	MLH1	NM_000249.4(MLH1):c.332_353del:p.Ala111fs	coding	Pathogenic
3	37004433	T	TA	C37004435A	MLH1	NM_000249.4(MLH1):c.340dup:p.Thr114fs	coding	Pathogenic
3	37004435	CTATTACAACGAAAACAGCTGAT	C	T37004436G	MLH1	NM_000249.4(MLH1):c.342_363del:p.Ile115fs	coding	Pathogenic
3	37004437	AT	A	T37004439A	MLH1	NM_000249.4(MLH1):c.345del:p.Thr116fs	coding	Pathogenic
3	37004455	G	GA	T37004457A	MLH1	NM_000249.4(MLH1):c.362dup:p.Asp121fs	coding	Pathogenic
3	37004457	TG	T	G37004459A	MLH1	NM_000249.4(MLH1):c.365del:p.Gly122fs	coding	Pathogenic
3	37004458	GGAAA	G	A37004460T	MLH1	NM_000249.4(MLH1):c.366_369del:p.Lys123fs	coding	Pathogenic
3	37006916	ATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTG	TAAATC	A37006916T	MLH1	NM_000249.4(MLH1):c.381-75_454-739delinsTAAATC	noncoding	Pathogenic
3	37006992	GC	G	C37006993A	MLH1	NM_000249.4(MLH1):c.383del:p.Ala128fs	coding	Pathogenic
3	37006995	AG	A	G37006996T	MLH1	NM_000249.4(MLH1):c.386del:p.Ser129fs	coding	Pathogenic
3	37007011	AACTGAAAG	A	A37007012C	MLH1	NM_000249.4(MLH1):c.402_409del:p.Lys134fs	coding	Pathogenic
3	37007015	GA	G	A37007018G	MLH1	NM_000249.4(MLH1):c.408del:p.Ala137fs	coding	Pathogenic
3	37007016	AAA	T	A37007016T	MLH1	NM_000249.4(MLH1):c.406_408delinsT:p.Lys136fs	coding	Pathogenic
3	37007019	GC	G	C37007023T	MLH1	NM_000249.4(MLH1):c.413del:p.Pro138fs	coding	Pathogenic
3	37007027	TAAACCATGTGCTGGCAATCAAGGGAC	T	A37007028C	MLH1	NM_000249.4(MLH1):c.418_443del:p.Lys140fs	coding	Pathogenic
3	37007028	AAACCATGTGCT	A	A37007029G	MLH1	NM_000249.4(MLH1):c.419_429del:p.Lys140fs	coding	Pathogenic
3	37007033	ATGTGCTG	TAAACCTAAACCTAAACCTAAA	A37007033T	MLH1	NM_000249.4(MLH1):c.423_430delinsTAAACCTAAACCTAAACCTAAA:p.Cys142fs	coding	Pathogenic
3	37007035	GT	G	T37007036G	MLH1	NM_000249.4(MLH1):c.426del:p.Cys142fs	coding	Pathogenic
3	37007038	CTGGCAA	GG	C37007038G	MLH1	NM_000249.4(MLH1):c.428_434delinsGG:p.Ala143fs	coding	Pathogenic
3	37007046	CAA	G	C37007046G	MLH1	NM_000249.4(MLH1):c.436_438delinsG:p.Gln146fs	coding	Pathogenic
3	37007046	CA	C	A37007048G	MLH1	NM_000249.4(MLH1):c.438del:p.Thr148fs	coding	Pathogenic
3	37007063	GGT	G	G37007064A	MLH1	NM_000249.4(MLH1):c.453+1_453+2del	coding	Pathogenic
3	37008820	GA	G	A37008821C	MLH1	NM_000249.4(MLH1):c.461del:p.Asp154fs	coding	Pathogenic
3	37008821	ACCTTT	A	C37008822T	MLH1	NM_000249.4(MLH1):c.462_466del:p.Phe156fs	coding	Pathogenic
3	37008823	C	CG	T37008824G	MLH1	NM_000249.4(MLH1):c.463_464insG:p.Leu155fs	coding	Pathogenic
3	37008835	AT	A	T37008836A	MLH1	NM_000249.4(MLH1):c.476del:p.Ile159fs	coding	Pathogenic
3	37008837	AG	A	G37008838C	MLH1	NM_000249.4(MLH1):c.478del:p.Ala160fs	coding	Pathogenic
3	37008863	AT	A	T37008864C	MLH1	NM_000249.4(MLH1):c.504del:p.Pro169fs	coding	Pathogenic
3	37008877	T	TA	T37008879A	MLH1	NM_000249.4(MLH1):c.518dup:p.Tyr173Ter	coding	Pathogenic
3	37008886	A	AC	T37008887C	MLH1	NM_000249.4(MLH1):c.526_527insC:p.Ile176fs	coding	Pathogenic
3	37008886	AT	A	T37008890G	MLH1	NM_000249.4(MLH1):c.530del:p.Leu177fs	coding	Pathogenic
3	37011817	CAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGAT	C	A37011818G	MLH1	NM_000249.4(MLH1):c.546-2_589-59del	noncoding	Pathogenic
3	37011834	AT	A	T37011835G	MLH1	NM_000249.4(MLH1):c.561del:p.Asn187fs	coding	Pathogenic
3	37011838	AG	A	G37011840C	MLH1	NM_000249.4(MLH1):c.566del:p.Gly189fs	coding	Pathogenic
3	37011840	GCA	G	C37011841T	MLH1	NM_000249.4(MLH1):c.567_568del:p.Gly189_Ile190insTer	coding	Pathogenic
3	37011841	CATTAGTTTCTCAGTTA	C	T37011843A	MLH1	NM_000249.4(MLH1):c.569_584del:p.Ile190fs	coding	Pathogenic
3	37011849	TC	T	C37011850T	MLH1	NM_000249.4(MLH1):c.576del:p.Ser193fs	coding	Pathogenic
3	37011852	CA	C	A37011853G	MLH1	NM_000249.4(MLH1):c.579del:p.Val194fs	coding	Pathogenic
3	37012010	GC	G	C37012011A	MLH1	NM_000249.4(MLH1):c.589del:p.Gln197fs	noncoding	Pathogenic
3	37012027	C	CTT	G37012029T	MLH1	NM_000249.4(MLH1):c.606_607insTT:p.Asp203fs	coding	Pathogenic
3	37012035	AG	A	G37012037A	MLH1	NM_000249.4(MLH1):c.615del:p.Thr206fs	coding	Pathogenic
3	37012051	CCT	C	T37012053A	MLH1	NM_000249.4(MLH1):c.631_632del:p.Ser211fs	coding	Pathogenic
3	37012068	AT	A	T37012070C	MLH1	NM_000249.4(MLH1):c.648del:p.Arg217fs	coding	Pathogenic
3	37012073	C	TTA	C37012073T	MLH1	NM_000249.4(MLH1):c.651delinsTTA:p.Ser218fs	coding	Pathogenic
3	37012074	TC	T	C37012076A	MLH1	NM_000249.4(MLH1):c.654del:p.Ile219fs	coding	Pathogenic
3	37012076	CA	G	C37012076G	MLH1	NM_000249.4(MLH1):c.654_655delinsG:p.Ile219fs	coding	Pathogenic
3	37012076	C	CA	T37012078A	MLH1	NM_000249.4(MLH1):c.655dup:p.Ile219fs	coding	Pathogenic
3	37012080	TTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAA	T	T37012081A	MLH1	NM_000249.4(MLH1):c.659_677+25del	coding	Pathogenic
3	37014183	G	GGTGGGTGA	G37014199A	MLH1	NM_000249.4(MLH1):c.678-241_678-234dup	noncoding	Benign
3	37014221	T	TGGGA	A37014224G	MLH1	NM_000249.4(MLH1):c.678-209_678-208insGAGG	noncoding	Benign
3	37014429	TA	T	A37014430G	MLH1	NM_000249.4(MLH1):c.678-2del	noncoding	Pathogenic
3	37014432	A	AGAACTGATAG	A37014443G	MLH1	NM_000249.4(MLH1):c.679_688dup:p.Glu230fs	coding	Pathogenic
3	37014442	G	GA	T37014446A	MLH1	NM_000249.4(MLH1):c.691dup:p.Ile231fs	coding	Pathogenic
3	37014452	GT	AG	G37014452A	MLH1	NM_000249.4(MLH1):c.698_699delinsAG:p.Cys233Ter	coding	Pathogenic
3	37014474	CA	C	A37014478T	MLH1	NM_000249.4(MLH1):c.724del:p.Lys241_Met242insTer	coding	Pathogenic
3	37014480	G	GA	T37014483A	MLH1	NM_000249.4(MLH1):c.728dup:p.Asn243fs	coding	Pathogenic
3	37014495	CAA	C	A37014496T	MLH1	NM_000249.4(MLH1):c.742_743del:p.Asn248fs	coding	Pathogenic
3	37014500	CA	C	A37014503C	MLH1	NM_000249.4(MLH1):c.749del:p.Asn250fs	coding	Pathogenic
3	37014503	ACTACT	C	A37014503C	MLH1	NM_000249.4(MLH1):c.749_754delinsC:p.Asn250fs	coding	Pathogenic
3	37014504	CT	C	T37014505A	MLH1	NM_000249.4(MLH1):c.751del:p.Tyr251fs	coding	Pathogenic
3	37014514	A	AAGAAGTGCATCTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGACGGGAGAGGGAGAGGGAGACGGGATAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGTGAGACGGGAGAGGGAG	A37014531T	MLH1	NM_000249.4(MLH1):c.776_777insTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGACGGGAGAGGGAGAGGGAGACGGGATAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGTGAGACGGGAGAGGGAGAGAAGTGCATCTTCTT:p.Leu259delinsPhePhePhePhePhePheXaaXaaXaaXaaGlyArgArgGluArgGluArgGluThrGlyTer	coding	Pathogenic
3	37014514	A	ATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGAAGTGCATCTTC	A37014515T	MLH1	NM_000249.4(MLH1):c.760_761insTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGAAGTGCATCTTC:p.Lys254fs	coding	Pathogenic
3	37014518	A	AT	G37014519T	MLH1	NM_000249.4(MLH1):c.764_765insT:p.Lys255fs	coding	Pathogenic
3	37014519	G	GT	G37014521T	MLH1	NM_000249.4(MLH1):c.766dup:p.Cys256fs	coding	Pathogenic
3	37014531	ACT	A	C37014534T	MLH1	NM_000249.4(MLH1):c.780_781del:p.Phe261fs	coding	Pathogenic
3	37014531	ACTCTTCAT	A	T37014533A	MLH1	NM_000249.4(MLH1):c.779_786del:p.Leu260fs	coding	Pathogenic
3	37014534	CT	C	T37014536C	MLH1	NM_000249.4(MLH1):c.782del:p.Phe261fs	coding	Pathogenic
3	37014536	TC	T	C37014537A	MLH1	NM_000249.4(MLH1):c.783del:p.Phe261fs	coding	Pathogenic
3	37014542	A	AC	G37014545C	MLH1	NM_000249.4(MLH1):c.790dup:p.His264fs	coding	Pathogenic
3	37014542	AC	A	C37014544G	MLH1	NM_000249.4(MLH1):c.790del:p.His264fs	coding	Pathogenic
3	37017513	GGTAGA	G	G37017514A	MLH1	NM_000249.4(MLH1):c.799_803del:p.Val267fs	coding	Pathogenic
3	37017516	AG	A	G37017517A	MLH1	NM_000249.4(MLH1):c.802del:p.Glu268fs	coding	Pathogenic
3	37017517	GA	G	A37017519T	MLH1	NM_000249.4(MLH1):c.804del:p.Glu268fs	coding	Pathogenic
3	37017526	TC	T	C37017528T	MLH1	NM_000249.4(MLH1):c.813del:p.Ser271_Leu272insTer	coding	Pathogenic
3	37017530	TG	T	G37017531A	MLH1	NM_000249.4(MLH1):c.816del:p.Arg273fs	coding	Pathogenic
3	37017533	GA	G	A37017537G	MLH1	NM_000249.4(MLH1):c.822del:p.Ala275fs	coding	Pathogenic
3	37017543	AG	A	G37017544A	MLH1	NM_000249.4(MLH1):c.829del:p.Glu277fs	coding	Pathogenic
3	37017546	AAC	A	C37017548G	MLH1	NM_000249.4(MLH1):c.833_834del:p.Thr278fs	coding	Pathogenic
3	37017548	C	CAGTGT	T37017555G	MLH1	NM_000249.4(MLH1):c.835_839dup:p.Tyr280Ter	coding	Pathogenic
3	37017549	AGT	A	G37017552A	MLH1	NM_000249.4(MLH1):c.837_838del:p.Tyr280fs	coding	Pathogenic
3	37017554	ATGCAGC	A	T37017555C	MLH1	NM_000249.4(MLH1):c.840_845del:p.Ala281_Ala282del	coding	Pathogenic
3	37017557	CA	C	A37017558G	MLH1	NM_000249.4(MLH1):c.843del:p.Ala282fs	coding	Pathogenic
3	37017557	C	CA	G37017559A	MLH1	NM_000249.4(MLH1):c.843dup:p.Ala282fs	coding	Pathogenic
3	37017561	C	CT	A37017563T	MLH1	NM_000249.4(MLH1):c.847dup:p.Tyr283fs	coding	Pathogenic
3	37017579	AC	A	C37017580A	MLH1	NM_000249.4(MLH1):c.865del:p.His289fs	coding	Pathogenic
3	37017581	AC	A	C37017584A	MLH1	NM_000249.4(MLH1):c.869del:p.Pro290fs	coding	Pathogenic
3	37017598	A	AGGATG	T37017601A	MLH1	NM_000249.4(MLH1):c.884+1_884+2insATGGG	coding	Pathogenic
3	37017598	AG	A	G37017600T	MLH1	NM_000249.4(MLH1):c.884+1del	coding	Pathogenic
3	37017599	GGT	G	G37017600A	MLH1	NM_000249.4(MLH1):c.884+1_884+2del	coding	Pathogenic
3	37020312	TAGAAATCAGTCCCC	T	A37020317T	MLH1	NM_000249.4(MLH1):c.892_905del:p.Ile298fs	coding	Pathogenic
3	37020341	AAT	A	A37020342G	MLH1	NM_000249.4(MLH1):c.917_918del:p.Asn306fs	coding	Pathogenic
3	37020348	A	AC	A37020353C	MLH1	NM_000249.4(MLH1):c.927dup:p.Thr310fs	coding	Pathogenic/Likely_pathogenic
3	37020351	CCA	C	C37020354A	MLH1	NM_000249.4(MLH1):c.929_930del:p.Thr310fs	coding	Pathogenic
3	37020354	CA	C	A37020357G	MLH1	NM_000249.4(MLH1):c.932del:p.Lys311fs	coding	Pathogenic
3	37020381	AG	A	G37020383A	MLH1	NM_000249.4(MLH1):c.958del:p.Glu320fs	coding	Pathogenic
3	37020383	G	GAGAGC	T37020390G	MLH1	NM_000249.4(MLH1):c.960_964dup:p.Ile322fs	coding	Pathogenic/Likely_pathogenic
3	37020388	CA	C	A37020389T	MLH1	NM_000249.4(MLH1):c.964del:p.Ile322fs	coding	Pathogenic
3	37020390	T	TC	T37020393C	MLH1	NM_000249.4(MLH1):c.967dup:p.Leu323fs	coding	Pathogenic
3	37020403	G	GC	A37020405C	MLH1	NM_000249.4(MLH1):c.979dup:p.Gln327fs	coding	Pathogenic
3	37020417	AG	A	G37020418A	MLH1	NM_000249.4(MLH1):c.993del:p.Ser332fs	coding	Pathogenic
3	37020420	G	GA	C37020421A	MLH1	NM_000249.4(MLH1):c.995_996insA:p.Ser332fs	coding	Pathogenic
3	37020426	TC	T	C37020428T	MLH1	NM_000249.4(MLH1):c.1003del:p.Leu335fs	coding	Pathogenic
3	37025608	ATTTT	A	T37025626A	MLH1	NM_000249.4(MLH1):c.1039-11_1039-8del	noncoding	Benign
3	37025632	TACAGACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTTAAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCCCACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTGGCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAGAAGAGAGGACCTACTTCCAGCAACCCCAGGTATGGCCTTTTGGGAAAAGTACAGCCTACCTCCTTTATTCTGTAATAAAACTGCCTTCTAACTTTGGCTTTTCATGAATCACTTGCATCTTCTCTCTGCCTGACTTGCCCTCTGGAATGGTGCTGGAATGGTCCTGTGGCCTTGTCC	T	A37025635T	MLH1	NM_000249.4(MLH1):c.1039-2_1409+150del	noncoding	Pathogenic
3	37025634	CAGACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTTAAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCCCACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTGGCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAGAAGAGAGGACCTACTTCCAGCAACCCCAGG	C	A37025635T	MLH1	NM_000249.4(MLH1):c.1039-2_1409+1del	noncoding	Pathogenic
3	37025638	C	CTTGCTGTATT	T37025641G	MLH1	NM_000249.4(MLH1):c.1042_1043insGCTGTATTTT:p.Leu348fs	coding	Pathogenic
3	37025660	CCCCTCTGGGGAGATGGTTAAAT	C	C37025663A	MLH1	NM_000249.4(MLH1):c.1065_1086del:p.Ser356fs	coding	Pathogenic
3	37025665	CTGGGG	C	T37025666A	MLH1	NM_000249.4(MLH1):c.1068_1072del:p.Gly357fs	coding	Pathogenic
3	37025666	T	TG	A37025671G	MLH1	NM_000249.4(MLH1):c.1072dup:p.Glu358fs	coding	Pathogenic
3	37025683	C	CCACAACA	A37025691C	MLH1	NM_000249.4(MLH1):c.1086_1092dup:p.Ser365fs	coding	Pathogenic
3	37025687	AAC	A	C37025689A	MLH1	NM_000249.4(MLH1):c.1091_1092del:p.Thr364fs	coding	Pathogenic
3	37025710	CT	C	T37025712C	MLH1	NM_000249.4(MLH1):c.1114del:p.Ser372fs	coding	Pathogenic
3	37025714	TG	T	G37025716A	MLH1	NM_000249.4(MLH1):c.1118del:p.Gly373fs	coding	Pathogenic
3	37025715	GGAAGTAGT	G	A37025718T	MLH1	NM_000249.4(MLH1):c.1120_1127del:p.Gly373_Ser374insTer	coding	Pathogenic
3	37025719	GT	G	T37025720A	MLH1	NM_000249.4(MLH1):c.1122del:p.Ser374fs	coding	Pathogenic
3	37025725	ATAAGGTC	A	A37025728T	MLH1	NM_000249.4(MLH1):c.1130_1136del:p.Lys377fs	coding	Pathogenic
3	37025736	GC	G	C37025739A	MLH1	NM_000249.4(MLH1):c.1141del:p.His381fs	coding	Pathogenic
3	37025741	CCAGATGGTTCGTA	C	G37025747T	MLH1	NM_000249.4(MLH1):c.1149_1161del:p.Met383fs	coding	Pathogenic
3	37025770	AG	A	G37025771A	MLH1	NM_000249.4(MLH1):c.1173del:p.Lys392fs	coding	Pathogenic
3	37025778	G	GA	T37025780A	MLH1	NM_000249.4(MLH1):c.1181dup:p.Asp394fs	coding	Pathogenic
3	37025796	C	CT	G37025798T	MLH1	NM_000249.4(MLH1):c.1199dup:p.Ser401fs	coding	Pathogenic
3	37025800	G	GCAAA	C37025806A	MLH1	NM_000249.4(MLH1):c.1204_1207dup:p.Pro403fs	coding	Pathogenic
3	37025808	CTG	C	G37025810C	MLH1	NM_000249.4(MLH1):c.1212_1213del:p.Ser405fs	coding	Pathogenic
3	37025827	CCA	C	C37025828T	MLH1	NM_000249.4(MLH1):c.1230_1231del:p.Ile411fs	coding	Pathogenic
3	37025836	C	CA	G37025838A	MLH1	NM_000249.4(MLH1):c.1239dup:p.Glu414fs	coding	Pathogenic
3	37025848	C	CA	G37025850A	MLH1	NM_000249.4(MLH1):c.1251dup:p.Asp418fs	coding	Pathogenic
3	37025848	C	CAGATATTTCT	T37025861A	MLH1	NM_000249.4(MLH1):c.1253_1262dup:p.Ser421delinsArgTyrPheTer	coding	Pathogenic
3	37025855	TTC	T	C37025857A	MLH1	NM_000249.4(MLH1):c.1259_1260del:p.Ile419_Ser420insTer	coding	Pathogenic
3	37025871	A	AG	C37025874G	MLH1	NM_000249.4(MLH1):c.1275dup:p.Gln426fs	coding	Pathogenic
3	37025878	AAGATGAGGAGATGCTTGAAC	A	A37025879T	MLH1	NM_000249.4(MLH1):c.1281_1300del:p.Gln427fs	coding	Pathogenic
3	37025879	AG	A	G37025880A	MLH1	NM_000249.4(MLH1):c.1282del:p.Asp428fs	coding	Pathogenic
3	37025889	A	AT	G37025891T	MLH1	NM_000249.4(MLH1):c.1292dup:p.Met431fs	coding	Pathogenic
3	37025924	CA	C	A37025929T	MLH1	NM_000249.4(MLH1):c.1331del:p.Asn444fs	coding	Pathogenic
3	37025940	G	GA	G37025942A	MLH1	NM_000249.4(MLH1):c.1343dup:p.Asp450fs	coding	Pathogenic
3	37025941	AGG	A	G37025945A	MLH1	NM_000249.4(MLH1):c.1347_1348del:p.Asp450fs	coding	Pathogenic
3	37025942	GGGGGATACAACAA	G	G37025943A	MLH1	NM_000249.4(MLH1):c.1345_1357del:p.Gly449fs	coding	Pathogenic
3	37025946	GA	G	A37025947T	MLH1	NM_000249.4(MLH1):c.1349del:p.Asp450fs	coding	Pathogenic
3	37025950	C	CAACAAAGGGGACTTCAGGGAGCGGAGCAGAGCCGAGGTCGGGCCGCGAGCGGAGCCGGCTGAGCGGGCGCCGAGCTCCCGCCATGGCCCGGAACACGCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A37025968G	MLH1	NM_000249.4(MLH1):c.1369_1370insGGAGCGGAGCAGAGCCGAGGTCGGGCCGCGAGCGGAGCCGGCTGAGCGGGCGCCGAGCTCCCGCCATGGCCCGGAACACGCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAAGGGGACTTCAG:p.Glu457fs	coding	Pathogenic
3	37025953	CA	C	A37025956G	MLH1	NM_000249.4(MLH1):c.1358del:p.Lys453fs	coding	Pathogenic
3	37025960	GACTTCAGAAAT	G	A37025961G	MLH1	NM_000249.4(MLH1):c.1363_1373del:p.Thr455fs	coding	Pathogenic
3	37025960	GA	G	A37025961C	MLH1	NM_000249.4(MLH1):c.1363del:p.Thr455fs	coding	Pathogenic
3	37025961	AC	A	C37025962T	MLH1	NM_000249.4(MLH1):c.1364del:p.Thr455fs	coding	Pathogenic
3	37025964	TC	T	C37025965A	MLH1	NM_000249.4(MLH1):c.1367del:p.Thr455_Ser456insTer	coding	Pathogenic
3	37025970	A	AT	G37025972T	MLH1	NM_000249.4(MLH1):c.1373dup:p.Met458fs	coding	Pathogenic
3	37025971	T	TGTCAG	A37025977G	MLH1	NM_000249.4(MLH1):c.1374_1378dup:p.Glu460fs	coding	Pathogenic
3	37025974	CAGAG	C	G37025976A	MLH1	NM_000249.4(MLH1):c.1378_1381del:p.Glu460fs	coding	Pathogenic
3	37026001	AC	A	C37026005A	MLH1	NM_000249.4(MLH1):c.1407del:p.Arg470fs	coding	Pathogenic
3	37026001	AC	G	A37026001G	MLH1	NM_000249.4(MLH1):c.1403_1404delinsG:p.Asn468fs	coding	Pathogenic
3	37028801	AT	A	T37028803C	MLH1	NM_000249.4(MLH1):c.1429del:p.Ser477fs	coding	Pathogenic
3	37028806	GA	G	A37028807T	MLH1	NM_000249.4(MLH1):c.1433del:p.Asp478fs	coding	Pathogenic
3	37028808	TGTGGAAATGGTGGAAGATG	T	G37028809A	MLH1	NM_000249.4(MLH1):c.1435_1453del:p.Val479fs	coding	Pathogenic
3	37028812	G	GA	T37028816A	MLH1	NM_000249.4(MLH1):c.1441dup:p.Met481fs	coding	Pathogenic
3	37028816	TG	T	G37028818T	MLH1	NM_000249.4(MLH1):c.1444del:p.Val482fs	coding	Pathogenic
3	37028821	G	GA	G37028824A	MLH1	NM_000249.4(MLH1):c.1449dup:p.Asp484fs	coding	Pathogenic
3	37028830	TC	T	C37028833G	MLH1	NM_000249.4(MLH1):c.1459del:p.Arg487fs	coding	Pathogenic
3	37028839	GA	G	A37028842T	MLH1	NM_000249.4(MLH1):c.1468del:p.Glu489_Met490insTer	coding	Pathogenic
3	37028846	CT	C	T37028847G	MLH1	NM_000249.4(MLH1):c.1473del:p.Ala492fs	coding	Pathogenic
3	37028872	AT	A	T37028873C	MLH1	NM_000249.4(MLH1):c.1499del:p.Ile500fs	coding	Pathogenic
3	37028872	ATCATTAACCTCACT	A	T37028873A	MLH1	NM_000249.4(MLH1):c.1499_1512del:p.Ile500fs	coding	Pathogenic
3	37028879	AC	A	C37028881T	MLH1	NM_000249.4(MLH1):c.1507del:p.Leu503fs	coding	Pathogenic
3	37028886	TA	T	A37028887G	MLH1	NM_000249.4(MLH1):c.1513del:p.Ser505fs	coding	Pathogenic
3	37028908	GA	G	A37028911T	MLH1	NM_000249.4(MLH1):c.1537del:p.Ile513fs	coding	Pathogenic
3	37028909	AAATT	A	T37028913G	MLH1	NM_000249.4(MLH1):c.1539_1542del:p.Ile513fs	coding	Pathogenic
3	37028921	A	AG	A37028925G	MLH1	NM_000249.4(MLH1):c.1550dup:p.His518fs	coding	Pathogenic
3	37028928	TGAGG	T	A37028930T	MLH1	NM_000249.4(MLH1):c.1556_1558+1del	coding	Pathogenic
3	37040122	ATGAAGTGGGGTTGGTAGGATTCTATTACTTACCTGTTTTTTGGTTTTATTTTTTGTTTTGCAGTTCTCCGGGAGATGTTGCATAACCACTCCTTCGTGGGCTGTG	A	G37040127T	MLH1	NM_000249.4(MLH1):c.1559-59_1604del	noncoding	Pathogenic
3	37040170	A	AT	G37040177T	MLH1	NM_000249.4(MLH1):c.1559-10dup	noncoding	Benign
3	37040181	TGCAGTTCTCCGGGAGATGTTGCATAACCACTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCA	T	G37040182C	MLH1	NM_000249.4(MLH1):c.1559-4_1667+63del	noncoding	Pathogenic
3	37040183	CAGTTCTCCGGGAGATGTTGCATAACCACTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGG	C	A37040184T	MLH1	NM_000249.4(MLH1):c.1559-2_1667+1del	noncoding	Pathogenic
3	37040187	TCTCCGGGAGA	G	T37040187G	MLH1	NM_000249.4(MLH1):c.1560_1570delinsG:p.Leu521fs	coding	Pathogenic
3	37040196	G	GAA	T37040198A	MLH1	NM_000249.4(MLH1):c.1570_1571insAA:p.Met524fs	coding	Pathogenic
3	37040198	TGTTGCATAACCACT	CTCC	T37040198C	MLH1	NM_000249.4(MLH1):c.1571_1585delinsCTCC:p.Met524fs	coding	Pathogenic
3	37040204	A	AT	A37040206T	MLH1	NM_000249.4(MLH1):c.1578dup:p.Asn527Ter	coding	Pathogenic
3	37040235	TC	T	C37040236A	MLH1	NM_000249.4(MLH1):c.1609del:p.Gln537fs	coding	Pathogenic
3	37040244	CT	C	T37040246G	MLH1	NM_000249.4(MLH1):c.1619del:p.Leu540fs	coding	Pathogenic
3	37040267	T	TA	T37040269A	MLH1	NM_000249.4(MLH1):c.1641dup:p.Tyr548fs	coding	Pathogenic
3	37040268	A	AC	T37040269C	MLH1	NM_000249.4(MLH1):c.1641_1642insC:p.Tyr548fs	coding	Pathogenic
3	37040268	ATACCTTC	A	A37040270C	MLH1	NM_000249.4(MLH1):c.1643_1649del:p.Tyr548fs	coding	Pathogenic
3	37040283	C	CAA	C37040285A	MLH1	NM_000249.4(MLH1):c.1657_1658insAA:p.Thr553fs	coding	Pathogenic
3	37040295	GTAA	G	T37040296A	MLH1	NM_000249.4(MLH1):c.1667+2_1667+4del	coding	Pathogenic
3	37040541	T	TTTTG	G37040571T	MLH1	NM_000249.4(MLH1):c.1667+248TTTG[8]	noncoding	Benign
3	37042272	G	GAACT	G37042277A	MLH1	NM_000249.4(MLH1):c.1673_1676dup:p.Phe560fs	coding	Pathogenic
3	37042285	A	AGATACTCATTTATGAT	T37042302G	MLH1	NM_000249.4(MLH1):c.1686_1701dup:p.Phe568delinsAspThrHisLeuTer	coding	Pathogenic
3	37042285	A	AGATG	A37042289G	MLH1	NM_000249.4(MLH1):c.1688_1689insGGAT:p.Ile563fs	coding	Pathogenic
3	37042292	CATTT	C	T37042295G	MLH1	NM_000249.4(MLH1):c.1695_1698del:p.Ile565fs	coding	Pathogenic
3	37042292	C	CA	T37042294A	MLH1	NM_000249.4(MLH1):c.1693dup:p.Ile565fs	coding	Pathogenic
3	37042293	A	AT	A37042297T	MLH1	NM_000249.4(MLH1):c.1696dup:p.Tyr566fs	coding	Pathogenic
3	37042300	AT	A	T37042304G	MLH1	NM_000249.4(MLH1):c.1704del:p.Phe568fs	coding	Pathogenic
3	37042305	GC	G	C37042307A	MLH1	NM_000249.4(MLH1):c.1707del:p.Asn570fs	coding	Pathogenic
3	37042309	AT	A	T37042313G	MLH1	NM_000249.4(MLH1):c.1713del:p.Phe571fs	coding	Pathogenic
3	37042313	TG	T	G37042315T	MLH1	NM_000249.4(MLH1):c.1715del:p.Gly572fs	coding	Pathogenic
3	37042317	GT	G	T37042319C	MLH1	NM_000249.4(MLH1):c.1719del:p.Leu574fs	coding	Pathogenic
3	37042317	GTT	G	T37042318C	MLH1	NM_000249.4(MLH1):c.1718_1719del:p.Val573fs	coding	Pathogenic
3	37042318	TTC	T	T37042321A	MLH1	NM_000249.4(MLH1):c.1721_1722del:p.Leu574fs	coding	Pathogenic
3	37042322	C	CA	G37042324A	MLH1	NM_000249.4(MLH1):c.1723dup:p.Arg575fs	coding	Pathogenic
3	37042326	TTATCGGTAAGTTTAGATCCTTTTCACTTCTGAAATTTCAACTGA	T	A37042328C	MLH1	NM_000249.4(MLH1):c.1728_1731+40del	coding	Pathogenic
3	37042330	CG	C	G37042332T	MLH1	NM_000249.4(MLH1):c.1731+1del	coding	Pathogenic
3	37043097	TACTCTACAAAAAGCCTGCTGAGATTTTGATTGGGATTATGTTGAATCTAGATCAATTTAGGGTGAAAAACTTTTGTTAGATAAATCCCTTAGTATTTCACATTTTTAAATGCTAAATGGCATTTTTCAAAAATTTTCTTTTTTCTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCAAAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCAAACTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTTAAACTATTTATAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCTCAAATTTTTTTTTTTTTTTTTTTTAAGAGACAGGGGTCTCACTCTTGCCTAGGCTGGAGTGCAGTGGCGTGATCATAGGTCACTGAAGCTTTGAACTCCTAGGCTCAAGTAGCTAGGAATACAAGTGTGTACCACTACACCTGGCTAATTTTTTTAAAAAAATTTTTTTCGTAGAAACGGGAGTCTTGTGTTACCAAGGCTAATCTCAAACTCATGGCCTCAAGTGATACTCTTGCCTCAGCCTCCCAGAGTGCTAGGATTGTAGGCATGAGTTACTTCACCCAGCCAAAAAACTTCAATTTCCTATTGTTTATTTGCTAGTATATAGAAATACATATAGTTTTGTACCTTGATGCTGTATCTTGCAACCTTGTTAAACTCACTTACTAGTTCTAGTATATTTTTTGTAGATTCTATCAGATTTTCTATATATGTATCATGTCTTCTGAGAATAAAGAAACTTTTACTTCTTGCTGTGCAAACTGAACACCTTTTCTTTCTTTCTTTCTTTTTTTAAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCGGCTTACTGCAACCTCCACCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTGGCCGAGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCTTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAATTACTGCGCCCGGCTGCCTTTTATTTCTTTCTCTTGACTGACTGCACTGGCTAGAGCCTCCAATACAATGTTGAATAGAAGTGGTAAGAATGGGCCAGGCATGGTGGCTCATGCCTCTAATCCTAGCACTTTGGGAGAGTATGGTGGGCAGGTTACTTGAGGCCAGGAGTTTGAGATCAGCCTGGCGAACATGGTGAAACTCTGTCTCTATTAAAAATACAAAATATAGTTGGGTGTGGCAGTTCACGTCTGTAATCCCAGCTACTTGGGTGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAATGCACCACTGCACTCCAGCCTGGGCAACACACACACACACGAAAAACGAAGTGGTAAGGATGGAAATCCTTCTCTTCTTCCTGATCTAAGGGGGAAAGGGGAAAGTTACAAAACATTCAGTATGCTGTTAGCCATATAGGTTTTTTTGTAGATGCCCATTATGAGGTTGAGGAAGTTCCCTCTGTTCCTTATTTGCTACAGATTTTATTTAGGATTGGATGTTGAATTTTTTTCAAATGCTTTTTTTGCATCTACTGAGATAATCATATGATTTTTCTTTTATAGTTTGTTAATATAGTGAATTACATTGATTTTCTTATGTTAAACCAATCTTTGCATTCCTGGGATGAACTCTGCTTGGTTATAATATATAATCCTTTTTATTTATTATGGGATTTGATTTGCTAAAATTTTTATTATAATTATTTTATCTGTGCTCATGATTGTTACTAGTTTATAGTTTTCTTTTAGTCTTTGGTTTTTGTATCAGGGTAATGCTGGCCTCATAGAATGAGTTGGTAAGTATCCCCTCCTTTTCCATTTTCTGAAAGAGTTTTGTGTAGAATTGATGTTAAAATTATTGCTTAATGTTTGGCAGAACTCAACAGTGAAGCCATCTGGGCTTGGAGATTTTCTTCATGGGAAGGTTTTTAACTGCAAATTCTATTTCTTTAATAGTATAGAGCTATTCAGGTTATCTGTTTCTTCTTAGGTAAGCTTTGGTATTTTGTTTCTTTGAAGAAATTTGTCGCATTTAATCTAAATTTTTAAATTTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGGCTGGCCTGTTTCACATTTCTTAAGGTAGAAGCTGAGGTCACGGATTTGAGACCTTTCTTCTTTTCTAATACAGGTGTTAAGTGCTACAAATATCCCTTAAGCACTGCTTCAACAGCATCCCACAAATTTTGATAGTTTGTTTTCATTTTCATTCAGTTCAAAATACCTTCTAATTTCCCTTTTGATTTCGTCTTTGACCTACAGGTTTTTTAGAACTGTGTTATTTAGTTTCCAATCTCTTGAGGATTTTTAAAACAATATGTTATTGATTTCTAATTTATTTCCATCTCAGTCAAAGAACATACTTGCCTTTTTTTATACATTTATTGAAACTTTTTTTATGGCCCAGAATATGGTCTGTGTTGGTAAATGTTCCATGTGTACTTGAAAATAATTTGTATTCTGATCTCATTGAGTTGAATGTTCTAGGTATATCAAGTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCAGGCTTTTTGTCTGTCGTATCTTCTCTGTTGAAATGGCCATTGACAAGAGGAGGAAAGGGGTTTTGTTGTGGATTGTTCAGGCACTTCCTTTGGGGTATATGGGGGATGAGTGTTACATTTATGGTTTCTCACCTGCCATTCTGATAGTGGATTCTTGGGAATTCAGGCTTCATTTGGATGCTCCGTTAAAGCTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGTATTCTTCAAATAAAATTTCCAGCCGGGTGCGGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATAACTTGGGGTCAGGAGTTCAAAACCAGCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAATAGAAAAATTAGCCAGGCGTGGTGGCGGGTACCTGTAATCCAAGCTGCTCAGGAGGCTGAGGCAGAAGAATCACTTAAACCCAAGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTAGGCGACAGCGAGACTGCGTCTCAAAAAAAAAAAAAAAGAACGTTCCAAGGTCAGGACTAGGCCTCCCCTCAGAAGCAGCAAGTGACATATGTGACATCCTCTCCACTCCCTATTTGCATTTCTAGGTTATATAACTGTACTACTATCCATGCATGCCTACTCTTGTTCCCAGGGTGAAGGACCCAGACATGGAGAGCCGAATCCCTGCAGGCCATTATAAATGAGATTATGCCATTTGCTCCCATTTCTTCTTATTCTTTCATTTTTGGGGCTCTCCATCTTGATGTGTTCTTTGGATCGTG	T	C37043099A	MLH1	NM_000249.4(MLH1):c.1731+768_1897-222del	noncoding	Pathogenic
3	37047516	TAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGG	T	A37047517T	MLH1	NM_000249.4(MLH1):c.1732-2_1896+1del	noncoding	Pathogenic
3	37047521	GC	G	C37047523A	MLH1	NM_000249.4(MLH1):c.1736del:p.Pro579fs	coding	Pathogenic
3	37047530	GCT	G	C37047533T	MLH1	NM_000249.4(MLH1):c.1746_1747del:p.Leu582_Phe583insTer	coding	Pathogenic
3	37047533	C	CTTTG	A37047538T	MLH1	NM_000249.4(MLH1):c.1747_1750dup:p.Asp584delinsValTer	coding	Pathogenic
3	37047542	TGC	G	T37047542G	MLH1	NM_000249.4(MLH1):c.1755_1757delinsG:p.Ala586fs	coding	Pathogenic
3	37047548	G	GCTTGCCT	T37047556C	MLH1	NM_000249.4(MLH1):c.1762_1768dup:p.Leu590fs	coding	Pathogenic
3	37047551	TG	T	G37047552C	MLH1	NM_000249.4(MLH1):c.1765del:p.Ala589fs	coding	Pathogenic
3	37047552	GC	G	C37047554T	MLH1	NM_000249.4(MLH1):c.1767del:p.Ala589_Leu590insTer	coding	Pathogenic
3	37047557	AGA	C	A37047557C	MLH1	NM_000249.4(MLH1):c.1770_1772delinsC:p.Leu590fs	coding	Pathogenic
3	37047557	AG	A	G37047558A	MLH1	NM_000249.4(MLH1):c.1771del:p.Asp591fs	coding	Pathogenic
3	37047567	G	GA	G37047569A	MLH1	NM_000249.4(MLH1):c.1781dup:p.Ser595fs	coding	Pathogenic
3	37047587	A	AG	A37047589G	MLH1	NM_000249.4(MLH1):c.1801dup:p.Asp601fs	coding	Pathogenic
3	37047593	TC	T	C37047596A	MLH1	NM_000249.4(MLH1):c.1809del:p.Glu605fs	coding	Pathogenic
3	37047605	AC	A	C37047606T	MLH1	NM_000249.4(MLH1):c.1819del:p.Ala608fs	coding	Pathogenic
3	37047612	GA	G	A37047614T	MLH1	NM_000249.4(MLH1):c.1827del:p.Glu609fs	coding	Pathogenic
3	37047617	C	CATTGTTG	G37047626T	MLH1	NM_000249.4(MLH1):c.1832_1838dup:p.Glu613delinsAspCysTer	coding	Pathogenic
3	37047623	TG	T	G37047624A	MLH1	NM_000249.4(MLH1):c.1837del:p.Glu613fs	coding	Pathogenic
3	37047629	TC	T	C37047630T	MLH1	NM_000249.4(MLH1):c.1843del:p.Phe614_Leu615insTer	coding	Pathogenic
3	37047641	G	GGCTGAGAT	T37047653G	MLH1	NM_000249.4(MLH1):c.1858_1865dup:p.Ala623fs	coding	Pathogenic
3	37047642	G	GCTGAGAT	G37047650C	MLH1	NM_000249.4(MLH1):c.1856_1862dup:p.Met621delinsIleTer	coding	Pathogenic
3	37047653	T	TG	C37047655G	MLH1	NM_000249.4(MLH1):c.1867dup:p.Ala623fs	coding	Pathogenic
3	37047659	CTATT	C	A37047661C	MLH1	NM_000249.4(MLH1):c.1874_1877del:p.Tyr625fs	coding	Pathogenic
3	37047663	TTC	T	C37047667T	MLH1	NM_000249.4(MLH1):c.1880_1881del:p.Ser627fs	coding	Pathogenic
3	37047667	CTT	C	T37047669G	MLH1	NM_000249.4(MLH1):c.1882_1883del:p.Leu628fs	coding	Pathogenic
3	37047670	TG	T	G37047672A	MLH1	NM_000249.4(MLH1):c.1885del:p.Glu629fs	coding	Pathogenic
3	37047672	GA	G	A37047675T	MLH1	NM_000249.4(MLH1):c.1888del:p.Ile630fs	coding	Pathogenic
3	37048349	CT	C	T37048355A	MLH1	NM_000249.4(MLH1):c.1897-162del	noncoding	Benign
3	37048489	GTTCCCTTGTCCTTTTTCCTGCAAGCAGGAAG	TCAGAAAAT	G37048489T	MLH1	NM_000249.4(MLH1):c.1897-28_1900delinsTCAGAAAAT	noncoding	Pathogenic
3	37048515	A	AG	A37048518G	MLH1	NM_000249.3(MLH1):c.1897dupG	noncoding	Pathogenic
3	37048534	AT	A	T37048536A	MLH1	NM_000249.4(MLH1):c.1916del:p.Leu639fs	coding	Pathogenic
3	37048537	A	AC	T37048542C	MLH1	NM_000249.4(MLH1):c.1921dup:p.Leu641fs	coding	Pathogenic
3	37048537	AC	A	C37048541T	MLH1	NM_000249.4(MLH1):c.1921del:p.Leu641fs	coding	Pathogenic
3	37048542	TTC	T	C37048544G	MLH1	NM_000249.4(MLH1):c.1924_1925del:p.Leu642fs	coding	Pathogenic
3	37048543	TC	T	C37048544T	MLH1	NM_000249.4(MLH1):c.1924del:p.Leu641_Leu642insTer	coding	Pathogenic
3	37048552	C	CA	C37048555A	MLH1	NM_000249.4(MLH1):c.1934dup:p.Asn645fs	coding	Pathogenic
3	37048554	ACTATGTGCCCC	A	A37048557T	MLH1	NM_000249.4(MLH1):c.1937_1947del:p.Tyr646fs	coding	Pathogenic
3	37048557	A	TTGGAGGGACTGCCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTT	A37048557T	MLH1	NM_000249.4(MLH1):c.1937delinsTTGGAGGGACTGCCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTT:p.Tyr646fs	coding	Pathogenic
3	37048558	T	TGGCAA	T37048560G	MLH1	NM_000249.4(MLH1):c.1939_1940insGCAAG:p.Val647fs	coding	Pathogenic
3	37048561	G	GC	T37048567C	MLH1	NM_000249.4(MLH1):c.1946dup:p.Leu650fs	coding	Pathogenic
3	37048566	CTTTGGAG	A	C37048566A	MLH1	NM_000249.4(MLH1):c.1946_1953delinsA:p.Pro649fs	coding	Pathogenic
3	37048572	AG	A	G37048575A	MLH1	NM_000249.4(MLH1):c.1955del:p.Gly652fs	coding	Pathogenic
3	37048574	GGACTGCCT	G	G37048575A	MLH1	NM_000249.4(MLH1):c.1955_1962del:p.Gly652fs	coding	Pathogenic
3	37048575	G	GA	C37048577A	MLH1	NM_000249.4(MLH1):c.1956dup:p.Leu653fs	coding	Pathogenic
3	37048576	AC	A	C37048577T	MLH1	NM_000249.4(MLH1):c.1957del:p.Leu653fs	coding	Pathogenic
3	37048582	T	TA	T37048584A	MLH1	NM_000249.4(MLH1):c.1963dup:p.Ile655fs	coding	Pathogenic
3	37048588	CA	C	A37048589T	MLH1	NM_000249.4(MLH1):c.1969del:p.Ile657fs	coding	Pathogenic
3	37048591	TC	T	C37048592T	MLH1	NM_000249.4(MLH1):c.1972del:p.Leu658fs	coding	Pathogenic
3	37048594	TC	T	C37048595G	MLH1	NM_000249.4(MLH1):c.1975del:p.Arg659fs	coding	Pathogenic
3	37048601	G	GC	A37048604C	MLH1	NM_000249.4(MLH1):c.1983dup:p.Thr662fs	coding	Pathogenic
3	37048619	CAA	C	A37048620G	MLH1	NM_000249.4(MLH1):c.1989+11_1989+12del	noncoding	Benign
3	37048902	AGGT	A	G37048904A	MLH1	NM_000249.3(MLH1):c.1990-1_1991delGGT	noncoding	Pathogenic
3	37048903	GGTGAA	G	G37048904T	MLH1	NM_000249.4(MLH1):c.1990_1994del:p.Val664fs	noncoding	Pathogenic
3	37048908	A	AGT	T37048909G	MLH1	NM_000249.4(MLH1):c.1994_1995insGT:p.Asn665fs	coding	Pathogenic
3	37048910	TG	T	G37048913A	MLH1	NM_000249.4(MLH1):c.1999del:p.Asp667fs	coding	Pathogenic
3	37048915	CG	C	G37048916A	MLH1	NM_000249.4(MLH1):c.2002del:p.Glu668fs	coding	Pathogenic
3	37048929	G	GT	G37048934T	MLH1	NM_000249.4(MLH1):c.2019dup:p.Glu674Ter	coding	Pathogenic
3	37048941	TC	T	C37048942A	MLH1	NM_000249.4(MLH1):c.2028del:p.Ser677fs	coding	Pathogenic
3	37048942	CA	C	A37048943G	MLH1	NM_000249.4(MLH1):c.2029del:p.Ser677fs	coding	Pathogenic
3	37048943	AGTAAAGAATGC	A	T37048945C	MLH1	NM_000249.4(MLH1):c.2031_2041del:p.Lys678fs	coding	Pathogenic
3	37048952	TGC	T	G37048955T	MLH1	NM_000249.4(MLH1):c.2041_2042del:p.Ala681fs	coding	Pathogenic
3	37048953	GC	AG	G37048953A	MLH1	NM_000249.4(MLH1):c.2039_2040delinsAG:p.Cys680Ter	coding	Pathogenic
3	37048955	GCTATGTT	G	G37048960T	MLH1	NM_000249.4(MLH1):c.2046_2052del:p.Met682fs	coding	Pathogenic
3	37048956	C	CT	A37048958T	MLH1	NM_000249.4(MLH1):c.2043dup:p.Met682fs	coding	Pathogenic
3	37048984	CAT	C	A37048987C	MLH1	NM_000249.4(MLH1):c.2073_2074del:p.Ile691_Ser692insTer	coding	Pathogenic
3	37048985	A	AT	A37048987T	MLH1	NM_000249.4(MLH1):c.2072dup:p.Ser692fs	coding	Pathogenic
3	37048985	A	ATT	A37048987T	MLH1	NM_000249.4(MLH1):c.2072_2073insTT:p.Ser692fs	coding	Pathogenic
3	37049000	A	AC	T37049004C	MLH1	NM_000249.4(MLH1):c.2089dup:p.Leu697fs	coding	Pathogenic
3	37049012	CA	C	A37049013G	MLH1	NM_000249.4(MLH1):c.2099del:p.Gln700fs	coding	Pathogenic
3	37049015	CAGGT	C	G37049017C	MLH1	NM_000249.4(MLH1):c.2103_2103+3del	coding	Pathogenic
3	37049016	A	AG	T37049019G	MLH1	NM_000249.4(MLH1):c.2103+1dup	coding	Pathogenic
3	37050488	TGAAGTGCCTG	T	A37050490C	MLH1	NM_000249.4(MLH1):c.2108_2117del:p.Glu703fs	coding	Pathogenic
3	37050490	A	AAGTG	C37050495A	MLH1	NM_000249.4(MLH1):c.2109_2112dup:p.Pro705fs	coding	Pathogenic
3	37050504	ATTCC	A	T37050505A	MLH1	NM_000249.4(MLH1):c.2123_2126del:p.Ile708fs	coding	Pathogenic
3	37050512	C	CT	C37050514T	MLH1	NM_000249.4(MLH1):c.2131dup:p.Ser711fs	coding	Pathogenic
3	37050518	GAAGTGGACTGTGGA	G	A37050520C	MLH1	NM_000249.4(MLH1):c.2138_2151del:p.Lys713fs	coding	Pathogenic
3	37050525	ACTGTGGAACAC	A	C37050526A	MLH1	NM_000249.4(MLH1):c.2144_2154del:p.Thr715fs	coding	Pathogenic
3	37050529	TG	T	G37050531A	MLH1	NM_000249.4(MLH1):c.2149del:p.Glu717fs	coding	Pathogenic
3	37050536	CA	C	A37050537T	MLH1	NM_000249.4(MLH1):c.2155del:p.Ile719fs	coding	Pathogenic
3	37050544	AT	A	T37050545A	MLH1	NM_000249.4(MLH1):c.2163del:p.Val720_Tyr721insTer	coding	Pathogenic
3	37050554	GC	G	C37050555G	MLH1	NM_000249.4(MLH1):c.2173del:p.Arg725fs	coding	Pathogenic
3	37050554	GCGCTCACA	G	G37050556A	MLH1	NM_000249.4(MLH1):c.2174_2181del:p.Arg725fs	coding	Pathogenic
3	37050566	TCTGC	T	G37050569C	MLH1	NM_000249.4(MLH1):c.2187_2190del:p.Pro730fs	coding	Pathogenic
3	37050566	T	TCTGC	C37050573G	MLH1	NM_000249.4(MLH1):c.2187_2190dup:p.Pro731fs	coding	Pathogenic
3	37050572	T	TC	T37050575C	MLH1	NM_000249.4(MLH1):c.2192dup:p.Pro731_Lys732insTer	coding	Pathogenic
3	37050575	TAA	T	A37050577C	MLH1	NM_000249.4(MLH1):c.2195_2196del:p.Lys732fs	coding	Pathogenic
3	37050576	AAACATTTCACA	G	A37050576G	MLH1	NM_000249.4(MLH1):c.2194_2205delinsG:p.Lys732fs	coding	Pathogenic
3	37050577	AAC	A	C37050579T	MLH1	NM_000249.4(MLH1):c.2197_2198del:p.His733fs	coding	Pathogenic
3	37050659	GTTAT	G	T37050664G	MLH1	NM_000249.4(MLH1):c.*7TTAT[1]	noncoding	Benign/Likely_benign
3	38007538	TG	T	G38007540C	PLCD1	NM_006225.4(PLCD1):c.*234del	noncoding	Benign
3	38011831	T	TGTTACGTCCC	A38011836C	PLCD1	NM_006225.4(PLCD1):c.429-159_429-158insTAACGGGACG	noncoding	Benign
3	38548867	C	CT	A38548869T	SCN5A	NM_000335.5(SCN5A):c.*1453dup	noncoding	Benign/Likely_benign
3	38550922	AAGTC	A	T38550925A	SCN5A	NM_000335.5(SCN5A):c.5443_5446del:p.Asp1815fs	coding	Pathogenic
3	38551150	TC	T	C38551156G	SCN5A	NM_000335.5(SCN5A):c.5218del:p.Asp1740fs	coding	Pathogenic
3	38551291	A	AAGTT	G38551296A	SCN5A	NM_000335.5(SCN5A):c.5074_5077dup:p.Phe1693Ter	coding	Pathogenic
3	38551637	T	TGGGG	T38551648G	SCN5A	NM_000335.5(SCN5A):c.4811-89_4811-86dup	noncoding	Benign
3	38551637	T	TGGG	T38551648G	SCN5A	NM_000335.5(SCN5A):c.4811-89_4811-87dup	noncoding	Benign
3	38551637	T	TGG	T38551648G	SCN5A	NM_000335.5(SCN5A):c.4811-89_4811-88dup	noncoding	Benign
3	38551637	T	TG	T38551648G	SCN5A	NM_000335.5(SCN5A):c.4811-89dup	noncoding	Benign
3	38555697	GCTT	G	T38555702A	SCN5A	NM_000335.5(SCN5A):c.4492AAG[1]:p.Lys1499del	coding	Pathogenic
3	38556451	TGTTG	T	G38556456A	SCN5A	NM_000335.5(SCN5A):c.4420_4423del:p.Gln1474fs	coding	Pathogenic
3	38556501	GA	G	A38556504G	SCN5A	NM_000335.5(SCN5A):c.4373del:p.Phe1458fs	coding	Pathogenic
3	38556554	A	AT	C38556557T	SCN5A	NM_000335.5(SCN5A):c.4320dup:p.Tyr1441fs	coding	Pathogenic
3	38556561	C	CT	G38556563T	SCN5A	NM_000335.5(SCN5A):c.4313dup:p.Trp1439fs	coding	Pathogenic
3	38560197	TC	T	C38560198A	SCN5A	NM_000335.5(SCN5A):c.4191del:p.Val1399fs	coding	Pathogenic/Likely_pathogenic
3	38560303	GC	G	C38560304A	SCN5A	NM_000335.5(SCN5A):c.4085del:p.Cys1362fs	coding	Pathogenic
3	38566483	GC	G	C38566484A	SCN5A	NM_000335.5(SCN5A):c.3762del:p.Leu1255fs	coding	Pathogenic
3	38566487	CA	C	A38566488T	SCN5A	NM_000335.5(SCN5A):c.3758del:p.Met1253fs	coding	Pathogenic
3	38566552	TC	T	C38566554G	SCN5A	NM_000335.5(SCN5A):c.3693del:p.Lys1232fs	coding	Pathogenic
3	38581004	GC	G	C38581006A	SCN5A	NM_000335.5(SCN5A):c.3154del:p.Ala1052fs	coding	Pathogenic
3	38581116	CTG	C	T38581117G	SCN5A	NM_000335.5(SCN5A):c.3041_3042del:p.Pro1014fs	coding	Pathogenic
3	38581308	CAG	C	A38581309G	SCN5A	NM_000335.5(SCN5A):c.2849_2850del:p.Pro950fs	coding	Pathogenic
3	38585515	TG	T	G38585523T	SCN5A	NM_000335.5(SCN5A):c.2787+175del	noncoding	Benign
3	38585662	G	GGTGTGTGTGTGTGT	G38585674T	SCN5A	NM_000335.5(SCN5A):c.2787+19AC[12]	noncoding	Benign/Likely_benign
3	38585662	G	GGTGTGTGTGTGTGTGT	G38585674T	SCN5A	NM_000335.5(SCN5A):c.2787+19AC[13]	noncoding	Benign/Likely_benign
3	38585944	A	AC	A38585947C	SCN5A	NM_000335.5(SCN5A):c.2533dup:p.Val845fs	coding	Pathogenic
3	38585957	TC	T	C38585961A	SCN5A	NM_000335.5(SCN5A):c.2520del:p.Asn841fs	coding	Pathogenic
3	38587515	TA	T	A38587516G	SCN5A	NM_000335.5(SCN5A):c.2320del:p.Tyr774fs	coding	Pathogenic/Likely_pathogenic
3	38587561	TC	T	C38587564T	SCN5A	NM_000335.5(SCN5A):c.2274del:p.Ile759fs	coding	Pathogenic
3	38603785	GC	G	C38603790A	SCN5A	NM_000335.5(SCN5A):c.1816del:p.Ala606fs	coding	Pathogenic/Likely_pathogenic
3	38604012	GA	G	A38604016T	SCN5A	NM_000335.5(SCN5A):c.1589del:p.Phe530fs	coding	Pathogenic
3	38604046	GA	G	A38604048G	SCN5A	NM_000335.5(SCN5A):c.1555del:p.Ser519fs	coding	Pathogenic
3	38604785	C	CCT	A38604789T	SCN5A	NM_000335.5(SCN5A):c.1460_1461dup:p.Glu488fs	coding	Pathogenic
3	38604794	CT	C	T38604795G	SCN5A	NM_000335.5(SCN5A):c.1452del:p.Gly485fs	coding	Pathogenic
3	38606058	CG	C	G38606060C	SCN5A	NM_000335.5(SCN5A):c.1230del:p.Val411fs	coding	Pathogenic
3	38609450	AT	A	T38609452G	SCN5A	NM_000335.5(SCN5A):c.934+283del	noncoding	Benign
3	38609766	CA	C	A38609767G	SCN5A	NM_000335.5(SCN5A):c.901del:p.Trp301fs	coding	Pathogenic
3	38609855	G	GAGCT	G38609860A	SCN5A	NM_000335.5(SCN5A):c.809_812dup:p.Phe272fs	coding	Pathogenic
3	38622396	TCACTCGACATA	T	A38622398T	SCN5A	NM_000335.5(SCN5A):c.475_482+3del	noncoding	Pathogenic
3	38630368	T	TA	C38630370A	SCN5A	NM_000335.5(SCN5A):c.334dup:p.Tyr112fs	coding	Pathogenic
3	38633052	AG	A	G38633056T	SCN5A	NM_000335.5(SCN5A):c.255del:p.Phe86fs	coding	Pathogenic/Likely_pathogenic
3	38633267	CG	C	G38633269A	SCN5A	NM_000335.5(SCN5A):c.40del:p.Arg14fs	coding	Pathogenic
3	38871269	G	GT	A38871270T	SCN11A	NM_001349253.2(SCN11A):c.3759+175_3759+176insA	noncoding	Benign
3	38896808	C	CT	G38896823T	SCN11A	NM_001349253.2(SCN11A):c.2403+23dup	noncoding	Benign
3	38896808	C	CTT	G38896823T	SCN11A	NM_001349253.2(SCN11A):c.2403+23_2403+24dup	noncoding	Benign
3	38903814	ATACTT	A	C38903817A	SCN11A	NM_001349253.2(SCN11A):c.1842+46_1842+50del	noncoding	Benign
3	38910051	CT	C	T38910052A	SCN11A	NM_001349253.2(SCN11A):c.1101+14del	noncoding	Benign
3	38910226	CAG	C	G38910230A	SCN11A	NM_001349253.2(SCN11A):c.960-21_960-20del	noncoding	Benign
3	38910532	AAC	A	C38910534G	SCN11A	NM_001349253.2(SCN11A):c.960-327_960-326del	noncoding	Benign
3	38920063	G	GT	A38920065T	SCN11A	NM_001349253.2(SCN11A):c.893-63dup	noncoding	Benign
3	38920243	CCT	C	C38920248T	SCN11A	NM_001349253.2(SCN11A):c.893-248AG[2]	noncoding	Benign
3	38926487	C	CT	A38926503T	SCN11A	NM_001349253.2(SCN11A):c.617+301dup	noncoding	Benign
3	38926487	CT	C	T38926502A	SCN11A	NM_001349253.2(SCN11A):c.617+315del	noncoding	Benign
3	38947016	TA	T	A38947019C	SCN11A	NM_001349253.2(SCN11A):c.268-110del	noncoding	Benign
3	38950061	CCA	C	A38950063C	SCN11A	NM_001349253.2(SCN11A):c.267+33_267+34del	noncoding	Benign
3	38950069	AC	A	C38950081G	SCN11A	NM_001349253.2(SCN11A):c.267+26del	noncoding	Benign
3	39390431	GTGTTGGGA	G	G39390438C	SLC25A38	NM_017875.4(SLC25A38):c.207_214del:p.Met70fs	coding	Pathogenic
3	39390457	AAGGTGGTTCG	A	A39390458C	SLC25A38	NM_017875.4(SLC25A38):c.227_236del:p.Lys76fs	coding	Pathogenic
3	39391482	CACTCTCT	C	C39391488T	SLC25A38	NM_017875.4(SLC25A38):c.324_330del:p.Leu108_Tyr109insTer	coding	Pathogenic
3	39391483	ACT	A	C39391488A	SLC25A38	NM_017875.4(SLC25A38):c.324_325del:p.Tyr109fs	coding	Pathogenic/Likely_pathogenic
3	39391499	AGCAGTATTTCT	A	G39391500T	SLC25A38	NM_017875.4(SLC25A38):c.336_346del:p.Lys112fs	coding	Pathogenic
3	39391521	TC	T	C39391526A	SLC25A38	NM_017875.4(SLC25A38):c.362del:p.Pro121fs	coding	Pathogenic
3	39391572	T	TG	C39391574G	SLC25A38	NM_017875.4(SLC25A38):c.409dup:p.Ala137fs	coding	Pathogenic
3	39391593	TAT	AG	T39391593A	SLC25A38	NM_017875.4(SLC25A38):c.429_431delinsAG:p.Ile144fs	coding	Pathogenic
3	39391870	TG	T	G39391871A	SLC25A38	NM_017875.4(SLC25A38):c.475del:p.Glu159fs	coding	Pathogenic
3	39391871	GAGAGTATCTAC	AAAGGAACCAA	G39391871A	SLC25A38	NM_017875.4(SLC25A38):c.475_486delinsAAAGGAACCAA:p.Glu159fs	coding	Pathogenic
3	39391875	G	GT	A39391877T	SLC25A38	NM_017875.4(SLC25A38):c.480dup:p.Ile161fs	coding	Pathogenic
3	39394456	G	TT	G39394456T	SLC25A38	NM_017875.4(SLC25A38):c.672delinsTT:p.Ile225fs	coding	Pathogenic
3	39396211	G	GA	T39396224A	SLC25A38	NM_017875.4(SLC25A38):c.793-175dup	noncoding	Benign
3	39396412	T	TG	C39396415G	SLC25A38	NM_017875.4(SLC25A38):c.809dup:p.Phe271fs	coding	Pathogenic
3	39396462	CA	C	A39396463G	SLC25A38	NM_017875.4(SLC25A38):c.858del:p.Ala287fs	coding	Pathogenic
3	39411876	C	CT	G39411887T	RPSA	NM_002295.6(RPSA):c.628-10dup	noncoding	Benign
3	39411876	CTT	C	T39411885G	RPSA	NM_002295.6(RPSA):c.628-11_628-10del	noncoding	Benign
3	41224578	T	TA	G41224580A	CTNNB1	NM_001904.4(CTNNB1):c.67dup:p.Ser23fs	coding	Pathogenic
3	41224643	CT	C	T41224645C	CTNNB1	NM_001904.4(CTNNB1):c.133del:p.Ser45fs	coding	Pathogenic
3	41225078	C	CT	C41225079T	CTNNB1	NM_001904.4(CTNNB1):c.366_367insT:p.Gln123fs	coding	Pathogenic
3	41225126	CTTGA	C	G41225129A	CTNNB1	NM_001904.4(CTNNB1):c.417_420del:p.Ile140fs	coding	Pathogenic
3	41225203	A	AC	A41225206C	CTNNB1	NM_001904.4(CTNNB1):c.493dup:p.Gln165fs	coding	Pathogenic
3	41225401	T	TC	A41225403C	CTNNB1	NM_001904.4(CTNNB1):c.564dup:p.Met189fs	coding	Pathogenic
3	41225531	C	CT	A41225535T	CTNNB1	NM_001904.4(CTNNB1):c.696dup:p.Lys233Ter	coding	Pathogenic
3	41225531	CT	C	T41225534A	CTNNB1	NM_001904.4(CTNNB1):c.696del:p.Phe232fs	coding	Pathogenic
3	41225709	CT	C	T41225713A	CTNNB1	NM_001904.4(CTNNB1):c.788del:p.Leu263fs	coding	Pathogenic
3	41227269	AC	A	C41227270G	CTNNB1	NM_001904.4(CTNNB1):c.999del:p.Thr332_Tyr333insTer	coding	Pathogenic
3	41233399	CTG	C	G41233401C	CTNNB1	NM_001904.4(CTNNB1):c.1142_1143del:p.Cys381fs	coding	Pathogenic
3	41233409	ACT	A	T41233413A	CTNNB1	NM_001904.4(CTNNB1):c.1154_1155del:p.Leu385fs	coding	Pathogenic
3	41233443	A	AG	T41233446G	CTNNB1	NM_001904.4(CTNNB1):c.1185+1dup	coding	Pathogenic
3	41233527	AG	A	G41233529A	CTNNB1	NC_000003.11:g.41275019del	noncoding	Pathogenic
3	41233613	CTT	C	T41233615C	CTNNB1	NM_001904.4(CTNNB1):c.1272_1273del:p.Leu424_Ser425insTer	coding	Pathogenic
3	41233624	CACTTGCAATAATTATA	C	C41233626G	CTNNB1	NM_001904.4(CTNNB1):c.1283_1298del:p.Thr428fs	coding	Pathogenic
3	41233692	C	CT	G41233694T	CTNNB1	NM_001904.4(CTNNB1):c.1350dup:p.Val451fs	coding	Pathogenic
3	41233816	A	AC	A41233819C	CTNNB1	NM_001904.4(CTNNB1):c.1475dup:p.Val493fs	coding	Pathogenic
3	41233826	GTTAAGCTC	G	A41233830C	CTNNB1	NM_001904.4(CTNNB1):c.1487_1494del:p.Lys496fs	coding	Pathogenic
3	41233852	C	CT	G41233854T	CTNNB1	NM_001904.4(CTNNB1):c.1510dup:p.Trp504fs	coding	Pathogenic
3	41234141	TA	T	A41234142C	CTNNB1	NM_001904.4(CTNNB1):c.1528del:p.Thr510fs	coding	Pathogenic
3	41235744	A	AAT	G41235748T	CTNNB1	NM_001904.4(CTNNB1):c.1706_1707dup:p.Val570Ter	coding	Pathogenic
3	41235745	AT	A	T41235746A	CTNNB1	NM_001904.4(CTNNB1):c.1706del:p.Ile569fs	coding	Pathogenic
3	41235826	AT	A	T41235828C	CTNNB1	NM_001904.4(CTNNB1):c.1788del:p.Pro597fs	coding	Pathogenic
3	41236371	ACATC	A	T41236374A	CTNNB1	NM_001904.4(CTNNB1):c.1829_1832del:p.Ile610fs	coding	Pathogenic
3	41236378	A	AAG	T41236383A	CTNNB1	NM_001904.4(CTNNB1):c.1836_1837dup:p.Val613fs	coding	Pathogenic
3	41236467	C	CA	G41236469A	CTNNB1	NM_001904.4(CTNNB1):c.1923dup:p.Glu642fs	coding	Pathogenic
3	41236639	A	AT	A41236642T	CTNNB1	NM_001904.4(CTNNB1):c.2008dup:p.Tyr670fs	coding	Pathogenic
3	41239134	AT	A	T41239135C	CTNNB1	NM_001904.4(CTNNB1):c.2139del:p.Pro714fs	coding	Pathogenic
3	41239135	TC	T	C41239137T	CTNNB1	NM_001904.4(CTNNB1):c.2141del:p.Pro714fs	coding	Pathogenic
3	42210085	C	CGGA	G42210118A	TRAK1	NM_001042646.3(TRAK1):c.1963+101GGA[11]	coding	Benign
3	42223778	TCTC	T	C42223782T	TRAK1	NM_001042646.3(TRAK1):c.*42CTC[1]	noncoding	Benign
3	42685789	CT	C	T42685791C	KLHL40	NM_152393.4(KLHL40):c.173del:p.Phe58fs	coding	Pathogenic
3	42685820	CGCGCGGGCGA	C	G42685823T	KLHL40	NM_152393.4(KLHL40):c.205_214del:p.Ala69fs	coding	Pathogenic
3	42686543	AC	A	C42686546T	KLHL40	NM_152393.4(KLHL40):c.928del:p.Leu310fs	coding	Pathogenic
3	42688268	CGCTGCCTGGACTCG	C	C42688270T	KLHL40	NM_152393.4(KLHL40):c.1281_1294del:p.Cys428fs	coding	Pathogenic
3	42690851	A	AC	A42690857C	KLHL40	NM_152393.4(KLHL40):c.1608-3dup	noncoding	Benign
3	43080198	CCT	C	C43080199G	POMGNT2	NM_032806.6(POMGNT2):c.1232_1233del:p.Gln411fs	coding	Pathogenic
3	43080610	CTT	C	T43080613C	POMGNT2	NM_032806.6(POMGNT2):c.820_821del:p.Lys274fs	coding	Pathogenic
3	43080922	GT	G	T43080923C	POMGNT2	NM_032806.6(POMGNT2):c.509del:p.Asp170fs	coding	Pathogenic
3	43081021	AG	C	A43081021C	POMGNT2	NM_032806.6(POMGNT2):c.410_411delinsG:p.Ala137fs	coding	Pathogenic
3	43565732	CA	C	A43565750G	ANO10	NM_018075.5(ANO10):c.1219-6del	noncoding	Benign
3	43565732	C	CAA	G43565751A	ANO10	NM_018075.5(ANO10):c.1219-23_1219-22dup	noncoding	Benign
3	43565732	C	CA	G43565751A	ANO10	NM_018075.5(ANO10):c.1219-23dup	noncoding	Benign
3	43580142	C	CA	G43580161A	ANO10	NM_018075.5(ANO10):c.592+193dup	noncoding	Benign
3	43600431	AT	A	T43600432G	ANO10	NM_018075.5(ANO10):c.289del:p.Thr96_Met97insTer	coding	Pathogenic/Likely_pathogenic
3	43605720	C	CTT	A43605730T	ANO10	NM_018075.5(ANO10):c.131_132dup:p.Asp45fs	coding	Pathogenic
3	43702875	TTTATTA	T	T43702883C	ABHD5	NM_016006.6(ABHD5):c.506+289TTA[2]	noncoding	Benign
3	43717732	CA	C	A43717733G	ABHD5	NM_016006.6(ABHD5):c.836del:p.Gln279fs	coding	Pathogenic
3	45394493	CTT	C	T45394494C	LARS2	NM_015340.4(LARS2):c.41_42del:p.Leu14fs	coding	Pathogenic
3	45419610	G	GT	G45419613T	LARS2	NM_015340.4(LARS2):c.456-57dup	noncoding	Benign
3	45486016	T	TAAG	T45486023A	LARS2	NM_015340.4(LARS2):c.1123+221AAG[3]	noncoding	Benign
3	45491752	G	GC	A45491759C	LARS2	NM_015340.4(LARS2):c.1481dup:p.Leu495fs	coding	Pathogenic
3	45513155	TG	T	G45513157C	LARS2	NM_015340.4(LARS2):c.1783del:p.Ala595fs	coding	Pathogenic
3	45513406	AG	A	G45513407C	LARS2	NM_015340.4(LARS2):c.1861+172del	noncoding	Benign
3	45520488	CT	C	T45520489G	LARS2	NM_015340.4(LARS2):c.2292+193del	noncoding	Benign
3	45936318	AAAG	A	G45936321T	FYCO1	NM_024513.4(FYCO1):c.4040+127_4040+129del	noncoding	Benign
3	45955331	AT	A	T45955333C	FYCO1	NM_024513.4(FYCO1):c.3861del:p.Glu1287fs	coding	Pathogenic
3	45964443	TG	T	G45964444C	FYCO1	NM_024513.4(FYCO1):c.3161del:p.Ala1054fs	coding	Pathogenic
3	45973098	T	TACTTTGCC	T45973099A	FYCO1	NM_024513.4(FYCO1):c.528_529insGGCAAAGT:p.Thr177fs	coding	Pathogenic
3	45975071	CAAGG	C	A45975073C	FYCO1	NM_024513.4(FYCO1):c.395+164_395+167del	noncoding	Benign
3	45979726	GCG	TCA	G45979726T	FYCO1	NM_024513.4(FYCO1):c.265_267delinsTGA:p.Arg89Ter	coding	Pathogenic
3	45984717	CA	C	A45984719T	FYCO1	NM_024513.4(FYCO1):c.55+138del	noncoding	Benign
3	46581510	CT	C	T46581527G	TDGF1	NM_003212.4(TDGF1):c.*277del	noncoding	Benign
3	46694175	CGCCCTGCGGCCCCCTGGGCTGGGTGTCCACGGCCGGCCGCCCCTCCTGTGCGACCTTGGGGAAGTCCCCTTTCCTCCCCACTCCTGAGTCTCAACAGGCCTAGTAGAGCATGAAGCCGGCCGCGTGTGCTTTGTGCGAAGGCCTGAGACCTTGGAAAGGGTGGCTGAAGACTTATCTGGGACAGACCCCCCGGGAGCGGGAGGGAACTTAGTTCAAACCTGTAACAAAGAAGCCCCCCGTCAGCAGCCTGATTCCCCCTCTGGCCACCAGGTTAGTCACCCATTGCTCTCAGTGGCACTCAGGTTCCAGTGAGGGGGAGGCTCAGGGTCCAAGGCGGCCGTGGAAGAGCAGAAAGGGTGGCCCACCAGCCCCCTACTCAGCCCCCTACTGAGGAGGTGGGAGGCATCCCCCAACCTGCCAGGCTGAAGAGACCCCCAGTGGAGGTAAGTAGGGGCCTGGGGCCTGCCAAGCTCATCCCCTGGCTCCCTTGGGTTGTTGCGAGGTGGGAGTTTACTGTCTGCCAAGCTGCACATCACCCCTTGGAGGGTTTCCAGCCTGGGACCCTTGTCTGAGTGACTGCAGGTCCCAGTGACCTCACCCTTTTGCCCCACATTGCTCTCCTCCTGGGTCCCAATCCTGCAGAGCCGCCCCTTCCTGCTTCTCCATCCCTCCCCACATTGCCAAAGCCCGCCCTAGCTCTGGCCTCCCCTTTTCCAGCCTTGTTTTCTTGCCCCCTTCTGCACCCCCTGCTGCCTGAGGGGCTCCACTCCCAAAGGCCTTGCTCCTCTGGTCCCTGCCTGCTAGAGGTGTTGCTGTGTTGGTGGGTGGGGGCTACCTCAAGGAGGCTTCTGGTGAGGTGTCCCTCTGGCCCTCTGGGAAAGCCTCCCCTCCCCATGCCCTCCACCCCCAGGCTCCGGACCTTGGCCCCCACTCCCCTTCACAGCCCTGTTGGCCTGCGGGACTGTCTGCTGGGGCACTTGGCTCCCTGAGTCTACAGCACAGCCTGGCAGAGCCACCGCCCCAGCAGGTGGAATGAACTGAGGCTTCAGGTTCTAAACAGGCCTCCAAGGTCTTCCCTGTGGGGATCCTTTGTGCCTGTGGGGCAGTGGGAGGTAGCGGTACATTCTGGAAGAGCTGGTATGGGGCCTTGTGCTGCTTTCCTCTTGCTGTGTGATCACAGGCAGTGTGTGGCCTCTCTGTAACGTAGTGCCCCTGCTGGTGAAATATCTTACCTGCGCCTCCTTCTCGGGGTTATGTGGGACTCTGAGAGGAGGGGTATGGTGGGTTCAAGGGGCTCCTTCAGGGATGAGCACGGTTTAGAGGATCTATGGGTCCCCTAGAGCATGGGTGTGGGCCACCAGGCATCCCTGGGGCTTAGGAGGGAGGCAAGGGCTGGAGAGTGGCCATGGCCTCAGGAGGAGCATATGGCCTCACCACTTGTGACGAACAGGGACAGGTGGGGCAAGGCCCCGAGCAGGACAGATCTGATCTTATGCTAGGTGTCTCTGGGCCTCACTTTCATCATCTGCACGTGCAGCTGAGGGAAGGCAGTGCTGCCTGGGCTCGAGCAGGAAGGGAAGGGCTCCCACGGCTTCCTCCCTAGAGCACAGACTTCCTGTTCAGCCACATCTAGGGGAATAGAAAGGCTGACTGAGCTCTGGGCAGCAGACCAGTCCTTCCCCCATTCCCTGGGTGACCTCATGGGCATTGCAAGCCCAGTTTTCCTATCTGCTAAATGGGGCAAGACCTGCCCAGCCTCTCTTACAGCTCATTCTTGGCTTGGGGCCAGGTAAGGCCTCTGGTAGTGCCCAAAGGACAGCCTCTGCTGAGTCCACCTGCCTTCAGTCCCCTGCAGCACAGCCAAGGGCCCCTAGCCAATCCCACCACAGATGTGTATACCCACCCACACCACTCCCACACCCGCTGCACACAGATACAATTCCACAGTCAGGGAATGGGTGGGTCCCTGTGCCACATGGACCCATCTACCATTGAACCCACTGGTAAGGACTCCAAGTTGCACAACTCTAGTGGCAGCCCTGGGTATGCGTGTGCAGATCATGTGCCCATCCACAGGGACACAGACCTGCACACTACTCCAGGGAACACACACGTATGTGAATGGCACCTGTGATTCTGGAGCCATTGAGACTCATACCCAGCCACACACAAAGCTGCATGCAGAATGCACATGCACTCCCATGTGCACCAGTGCCTTAGTACACAAAGCACATGCTCAAGCACACGCAGGTCTGACACAGGCCTGGCCCAGCCCCACAGCTATTCTGAGCTGAGCCTGGGGCTGATGAGGTCAGGGACAGCCAACTCCCAGCAGGCCCCAGCTGCTGTGGCACAGGCCTAGGCTGCCCAGCTCCCACCCCCACCCTAGGCTGAGTCCCTGGATCCTAGCCTAGCTTTGTGACTGGGGGTCCTCATTTCCTACCCCCAGCTCCCCCAGAGCTAAACTTTAAGCCCTGGGATTTCAGGCTCCAGGAGAGAACATTCCACAGGGTCCTCTGGCCACTACCCCCTGCCTTGCTCACAGCTTCCAGTTCAGAGGCCCTGGAGGCTGGACTGGGTCCCTACAGGAAACTCACAGGAGCTAAAATTAGTACAGGAGGGAGAAGCAGGGATCTGCAGACCAGCATTCACAGCACCATGTATGGAGGGGACACTGTCTTCCAGGGAGCAAGGGTGGGGGACTTGGAGTCCAGAGGTCCCCAACCCCAGATATGATGGGCCCAACTGATTTTGGGGTGCAGGGGGATGTGGAGGCCTCCTAAGAAGCAGAAACAGTACTGGACACTGAGCAGTGTCCTGGGTTGGAGGCAAAGGCTGAGGTGGAGGCCATAGTTCCTGTGTGACCTTAGGCAGGGCATAACCCCTCTATGAGCTTAAATTCCTCACTGAAAAGCCCTCAGAGATGTAAAGTCCCTCAAAGATGGGGGAAAAAAAAACCCATGTGGTGTTAGGTATTGATTTTCATCCTCGGCTACTGGCTCATAGCTCCCATTGCCCTTGTTACGGTCTTTGGCTATAATGTGTTGGGCCTCAGGGCAGGCCCCAGGAAACGGAATCTCTCTGACCTTCTCCTGCTCTGCTTTCACCTGCCCCAAGTCAGGACCCTAATTTTCCCACACCTTTCTGATTGCGAGTCTTAAGACCCTCCCCAGAGAGGGTCCTGCCCTATACTCTGGGAGGAAGGAATGCAGATGTCGTGAAGCCTCCATAAACCCCAAGAGGACAGGGTTCAGAGGGCTTCTGAATAGCTGAACGTGTGGAGGCTGGGTGGCATGCCCAGGAGGGCATGGAAGCTCCATACCCCTTCCTCCATATCTCGCCCTATGCATCTCTTCAGCTGTATCCTTCGTAATACCCTTTACAGTAAGCCAGTAAAAGTCAGTCAGTGCTTCCCTGAGTTCTGTGACCCACTCCAGCAAATTAAGCCCAAAGAGGAGGTTGTAGGAACCCCAGCGTGAAGCCAGTTGGTCAGAAGTTCCAGAGGCCAGACTGGCAACTGGTGTCTTGGGGCTGGGTGGGCAGTCTTGGGAACTGAGGCCTCAATCTGTGGGATCTGACACTATCTCCGGGTAGATCATGTCAGAATCGAATTGGAAGGCACTCAGTTGGTGTCTGCTGCTTGGCATTTAGGGAAAAAACCCACACATTTGATCACAGAAGACTTCTGTGTGGATGATTGTTGTTGTGTTGGTGTACGAGCAGAGGAAAAGATATAGTTTGAGAGAGTTTTCAAAACTACTTTAACTTTCAGGATGTTCGCCTTAACGTGGTGTTTAATACTGGAGAATTGGAAGCAATGGAAATGTCCAACAATAGGACAGAGATCCAACAAGGTTTTTTGTTTCTTTTGTTTTGTTTTGTTTTGTTTCTTTTTTTTGAGATGGAGTCTTGCTTTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGACTAGTTGGGACTACAGGCACGTGCTACCGGCTAATGTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTGCTGAGTTTTTATACAGTGTAGTATCACACAGCCTTTAACAAGAATGATAATAATTATAATGACTAGCGTTTAATGAAGGCTTGTGATATGCTGGTGCATGATACTGAATTAAAAAAAAAAATAGAGATGGCGTCTTGCTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAATGATCCTCCTGCCTTGGTCTCCCAAAGGTGTGAGCCACTGCACCTGGCCCATGATCCTGAATTATATCTGTTTTACAGATGAGGGACTGAAGCTCAGAGGGGTTAAGTAGCCCACCTGAGGGTTCACAGCCGGCAGTATGCTCATGTCCCAGAAACCTTAGTGCAGTTTTAAGCTTTAACAACTTCAGAAGTTAGGACATATAAAGCTATGAATTTACCAAAAAATTTTTTGGAAAGTTTGTTTAAATTCTCTTATGCTACTTTAGTTTTGTGAATTTTGAATGACCTAAGTTTCTTTTTCTTTTCTTTTCTTTTTTTATTTTTTATTTTTTATTTTTTAGAGAGACAGGGGTCTCACTATATTGCTTAGGCTGGTCTCAAACTCCTGGTCTCAAGCATTCCTCCCACCTCAACTTCCCAGTGTTAGGATTACAGGCATGAGCCACCACACTCAGCCGACTTAAATTTCTTTCAGTCAACTTTTACCATCTTCAGAGGGCACAAAAGGAAACTTAAACTTTCAAATGGTGTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTTACCGCAACCTCCGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGGTTACAGGCATGTGCCACCTCACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGACTCCTGACCTCGGGTGATCTGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCTAAATGGTGTTTCTCATACATTTGTAGCTTTATACTTCTGAGGTTATTAAAGCTTACAACTGCACTGAGACTTTTGGGACACCCTGCTGTTTAAGTTCAGTCAGTTTGATTTTGAAGCCCGTGTGATAGTATTTGGCTGTGGTGGGGTCAAGGAGGATCTAGAGTACTTGAGTTGGTTAAAAAAAGTTCTGGGTACAAAAGTATACTAGAAATAGTGTACTGTAAGATCTCAGCTGTGTTCAGGAGTCTGCAGAGAAGTGGAACCCACGCAGAGCAGTGGCCATCTCAGGGAACACCGGGGGACACATATGATTGTATTTTCTTTCAGATTTCTTCACTAGGCTTGCCCTACTTCTTGATGGATGGATGAACTTTACAGAAAACAGAAACAGCTCTCCTCTGGGCTGAGCTGTGATTGGGAGCCTGTAAGCAGCAGAGCACTGCCTGTCCTGCTAAGGAGAGCCAGCACTCCCATATTCATTAATTCATATCATCCTCACATCAATCATGGGAGTCTCACCCTCCCCATGCCATGGATAAGAAACAGAAACAGAGGAGTAATGCTTTGCTCAGTGCATTACTGACAGGCTCACTTAGTCCTCACCCTGTCCAGCCTCCCTGACCCCATGTCCCGAGGGTGACCTCCCTGACTGGTCAGTGTGGCTTTCCCTAGCCTGGCCTGTGACCAGCAGCATGAGGAAGTGGGGATTGGAGTGCTGCAACAAGTGATTTGGATTTTAGCAGAGTTCCTGTTTGCCTGGCCAGGGCATGCCTGGGGAGGACTGGGTGGCCCAGCCCACTCAGTCCCCAGACTTTACCTCCCACTGTTGAGCGTTTCCTCGATGGGTCTCCTGGGCTGCAGTCCTTCTCCAACAGCTCTCGTTTTCCTGCCTGGCTGTCATCTCCGGGCCCTGACACTGGCAGGTGACCGCAGGTGGCCCTCCGCTCCCTGCTGCAGCCTGCTGTGGTCCTTGCCCATTCATGGCATGTCCAGGCCAGAACCTCACAGGGCTCTGGAGCCACAGGGTCTCCCTGGTTCTCAGGGCAGGCCTTGCTGGGCCATCCCCAGCCTGCGCAGGCCTTCACCAGTGCCCCTGGTGATAAGGGTTCCAGGGGCCCAACACCTGGGCTGCTTCTCCTAACACTCAGCAGCAGGAGATAAATAAGAATAGAAGGAAGGAAGAAAAGGAGGGAAGGGGAGTCTACCAACTCCAGGCCTCCCCACTCCTCTTCCTAAGTCTTCAGCCCCCACCCAGGTCTCTACATCTCCTCAGAACCTCCCTCTGTCCCTCAGTTGTCAAGGCTCAACATGGGGTCAGGGCCAGAGTGCAGTGTGGGTCAACTTCAGCATGAGGTCAGGGTCCTGGCTTAGACTGAAGTCAGAGTCAGTGTTCAGGCTGGGGCAGAGATTGAGGGCAGCCAGGGTCAGAAAATGGTCCTCCAGCCCTTCCAGGGACAGCCCACTTCTGTCCTGTGGGGCTGAAGATGCTGGCTTCTTCTGGAACCCTCCATAACACTGCCGGCTGGCAGCTCTGACCATACCATCCCCTGCTCTCCAGCTCTGGTGTCCAGGGTGACCAGAGCCGCCTCTGGGCAGGAAGCCAAGCCAGAAAGCCCAGGACATCCCTGAGCGCCTGTCACCATGGCAACCTGCCCGCTCTGCCCCCCCCCCAAACTCAAATCCAGTATATTTTTCAAATCCAGCATGACAGAATGGGAAGGGCCTCCTAGATCAGCAGATTCCAGTCCCACCCCCTTGTCCCAGATGGAGAAACTGAGGCCCATTTGCAGAAGGGAGGGGGACCTGTTGATTAGGGACCTGGCCCCAGCCTGTCCTCCCTCCCGCCCACCCCCACCTCAGTGTCCCTGGGGATGCGGAAGGTGGGGGCAGGGAGGGGGAGCCTGCGGCCCGATCTCCCGGGAAGGAGGGGGCGGGCCCTCCACCGCAGCGATGGCGGGGGCGGGCGGCGCGGGAACCTGACACCGAGGATGAATAAATGATGCTCGCTGACTACCCGTGGCCAAAGCCCGTGGCCACCGAGCGCCGGCTGGCAGGGGCAGTGACCGGCGGCCGGCCCGTTCGTCCCTGGGCTCCGCAAGCGGCGCGGTGGCACGAAGATGGCGGGGTGGCCGGGCGCGGGTCCCCTCTGCGTGCTGGGCGGCGCCGCACTCGGGGTGTGCCTCGCGGGGGTTGCCGGGCAGCTGGTGGAGGTGAGGCCGCGGCACGGAGGGACTGGGGAGGCTGTCACCCTCCAGGCAGGGGGCTGGGGGAGAGGGGACGCCTTTTTGATCCGGAGCTTGTTTGATCCCTTACTCTTGCCCTGAGAGATCCAGTCTCCCGGGCGATGCAGCCCTGCCCCAAGCCCTGCCAGGCTGTGAGAGAGACTCAGCCCCACTCTTAGGGTCCCTGGTCTGATGGAAGGGCACAGTACCCGATTTCTGGAACATTAGTCTGACGGGGGAGACTCACCTTGACCTTAGGGATTCCCAGCCTGACTTGGGGACACAGCCCTGCCCAGACTGATGGGGGATACTGGGCCCCCATCCTCCAGCCTTTGGTCTCACTGGCAGGGAGGTGCACAGCCCTGGGTTTCCTGGACCTCTAGTCTGATGGAACAGACCCTGAATTTAGGGTCTTCTGGAGGCAACAGCCTCTATCTCCAGAGATGTTCCAGGGACCCCTGTCTAATGGAGGGGGAGACATAGCCTTAAGATGGAGACGAGGGCATTCCAAGTTGGAGGGTGGGGGCAGCAGGATGAGGAGACCCTTTACAGAGAAGCTATGTGGAGCACTAGGTCCAGAGGGGCAGGCAGGGCAGGACCTAGGGACTGGGAAGTCTGACTTGGTCCTGGTGATAACCGGGAGCTTTAGAAGGTTTCTGCTCAGGGACAAGTCATGATGAGTTCTGGTTTGGAAGGAGGGTAAATTGGGAGCAGGCACACAGTGGGAGAGGTGGGAGGAGCTGCTGAGATAGCACAGAAGCTGGGGGAGAGCCCTGGTGGAGAGCCTGGCTGGGGCCAGGAAGGGTGGGGCCATCTGTAGCCTCCCTAACCCCCTTGTACCCCACTCCTGCGGAGCCTGAAAGGGGAGCCAACGAGGGAGCTGGCAGACCAGACCTAGAGTTCTGAATTGTGAGGCCAGAGGGAGAAGGCCCAGGAGCCAGGGCCAGGGAGGAGCAGGGGATGGAGGCTGTGCAGGCAGGGGCGGACCAGAGGGAGCAGGAAAACAGAAATGCAAGAGGCAGTGAGAGGTGCCCAGGGAAGTCCTGAGGGGTGGGGGCTTGGGGACAGTGTGGGATAGAGAGGACAGAGCCATGGGGAAGTTGTTATGGGGGGACACAGCCCTGAACTGGAGGGTTTGATGGGGACATAGGGACAGAGCCCTGGACCCAGATGTAGCCTGTCCCTGCTGTTGCCCAGAGGGCATGACCACAAGGCTGGGCTAGAGTCAGGTGTCAGCTCCAGTGTCCCTGTAAGGGGAGCTATGCTGGCTTGAGCCCTGTGAGGCGTACTTGGGCCCCTCACAGGCTGCCCTGAGGCCTGGGTACAGAAACTGAGCTGGCCTAGGTGCAGACAGAAAGCTGGGGGTGGGGGTTAAGTCAGTTCTCAGCCAAGGACTCTTCTCCCTCACCCCCAGGAACTCATCTTTTCCCAGTTCTAGGGAAATTGCATTTGGAGGCCATCTGCCTGACATCTGCCTACAGTCTGAGCAAGGCCTTAGCTCTTCCCTCACGGAAGCACCAAAGACATGGGCAGGGCTGGGGGCCATGTCACCACCCACCTTAGCCCTGTGTGGGTCACCATCACCCTCCATCAGCCCGTGAGGCTCTGAAGGAGGTGGGGACCTCCATGCTCCAGAAATCAGACCCCAGCAGGGCCCAACATGAGGAGAAGACCAGCTGTCATCTGCTGCCGTCCACCCAAGACCCCTATCAGTAAGAGTAGGCCCAGCTCCACCCACATCAGGGCTGGGGCAAGAATGTGTAGGAAGTGAGCTGCCTTGGCTCAGAACCTGAGAACTTTGCCATGGCCCTCAGAGTCTTCCAGTCATACAACCAGCCGGGCCAACACATTGAGCCTTAGAATTAGG	C	C46694178A	TMIE	NM_001370524.1(TMIE):c.-507_-66-2329del	noncoding	Pathogenic
3	46701031	G	GC	A46701042C	TMIE	NM_001370524.1(TMIE):c.-66-4749dup	noncoding	Benign
3	46705816	G	GCCGC	T46705822C	TMIE	NM_147196.3(TMIE):c.122_125dup:p.Pro43fs	coding	Pathogenic
3	46705839	CAG	C	A46705840T	TMIE	NM_147196.3(TMIE):c.144_145del:p.Val49fs	coding	Pathogenic
3	46709583	TAAGAAG	T	A46709605G	TMIE	NM_147196.3(TMIE):c.367AAG[7]:p.Lys130_Lys131del	coding	Benign/Likely_benign
3	46709948	CGTCCCTCTG	C	G46709949C	TMIE	NM_147196.3(TMIE):c.*261_*269del	noncoding	Benign
3	46709961	ATACAC	A	A46709963G	TMIE	NM_147196.3(TMIE):c.*275_*279del	noncoding	Benign
3	46709966	C	CGG	T46709967G	TMIE	NM_147196.3(TMIE):c.*278_*279insGG	noncoding	Benign
3	46860828	GC	G	C46860830A	MYL3	NM_000258.3(MYL3):c.158-4del	noncoding	Benign/Likely_benign
3	46863206	CTG	C	T46863207G	MYL3	NM_000258.3(MYL3):c.129+54_129+55del	noncoding	Benign/Likely_benign
3	46896192	AAGAC	A	C46896200T	PTH1R	NM_000316.3(PTH1R):c.313+331_313+334del	noncoding	Benign
3	46901455	AG	A	G46901457T	PTH1R	NM_000316.3(PTH1R):c.1093del:p.Val365fs	coding	Pathogenic
3	46996645	C	CA	G46996646A	NBEAL2	NM_015175.3(NBEAL2):c.2473+53_2473+54insA	noncoding	Benign
3	47002968	T	TC	G47002974C	NBEAL2	NM_015175.3(NBEAL2):c.5476dup:p.Arg1826fs	coding	Pathogenic
3	47057065	TACTGGGA	T	G47057071A	SETD2	NM_014159.7(SETD2):c.6712_6718del:p.Ser2238fs	coding	Pathogenic
3	47062371	GT	G	T47062385A	SETD2	NM_014159.7(SETD2):c.6110-26del	noncoding	Benign
3	47062371	GTT	G	T47062384A	SETD2	NM_014159.7(SETD2):c.6110-27_6110-26del	noncoding	Benign/Likely_benign
3	47062501	AAG	A	G47062505T	SETD2	NM_014159.7(SETD2):c.6110-157_6110-156del	noncoding	Benign
3	47083834	A	AT	C47083836T	SETD2	NM_014159.7(SETD2):c.5945dup:p.Asp1982fs	coding	Pathogenic
3	47084394	T	TA	T47084404A	SETD2	NM_014159.7(SETD2):c.5398-13dup	noncoding	Benign
3	47088212	AC	A	C47088214A	SETD2	NM_014159.7(SETD2):c.5177del:p.Gly1726fs	coding	Pathogenic
3	47088291	CA	C	A47088302C	SETD2	NM_014159.7(SETD2):c.5143-45del	noncoding	Benign
3	47088291	C	CA	C47088303A	SETD2	NM_014159.7(SETD2):c.5143-55dup	noncoding	Benign
3	47088410	TAAC	T	C47088413G	SETD2	NM_014159.7(SETD2):c.5143-166_5143-164del	noncoding	Benign
3	47088495	C	CTTA	A47088500T	SETD2	NM_014159.7(SETD2):c.5143-251_5143-249dup	noncoding	Benign
3	47101417	TCC	T	C47101420A	SETD2	NM_014159.7(SETD2):c.5015+39_5015+40del	noncoding	Benign
3	47101597	A	AGT	C47101635T	SETD2	NM_014159.7(SETD2):c.4918-78AC[19]	noncoding	Benign
3	47101597	AGT	A	T47101633C	SETD2	NM_014159.7(SETD2):c.4918-78AC[17]	noncoding	Benign/Likely_benign
3	47101597	AGTGT	A	T47101631C	SETD2	NM_014159.7(SETD2):c.4918-78AC[16]	noncoding	Benign
3	47101633	T	TGC	A47101638G	SETD2	NM_014159.7(SETD2):c.4918-82GC[3]	noncoding	Benign
3	47105903	CAA	C	A47105924T	SETD2	NM_014159.7(SETD2):c.4839+92_4839+93del	noncoding	Benign
3	47105903	CA	C	A47105925T	SETD2	NM_014159.7(SETD2):c.4839+93del	noncoding	Benign
3	47122884	CTGTT	C	T47122887A	SETD2	NM_014159.7(SETD2):c.1748_1751del:p.Lys583fs	coding	Pathogenic
3	47164012	CGCGGCG	C	G47164039A	SETD2	NM_014159.7(SETD2):c.-118CGC[8]	noncoding	Benign
3	47164012	CGCGGCGGCG	C	G47164036A	SETD2	NM_014159.7(SETD2):c.-118CGC[7]	noncoding	Benign
3	47396236	CT	C	T47396241A	PTPN23	NM_015466.4(PTPN23):c.159+24del	noncoding	Benign
3	47404643	G	GC	A47404650C	PTPN23	NM_015466.4(PTPN23):c.160-3dup	noncoding	Benign
3	47406767	AG	A	G47406771A	PTPN23	NM_015466.4(PTPN23):c.807+21del	noncoding	Benign
3	47407687	A	AC	A47407695C	PTPN23	NM_015466.4(PTPN23):c.1004-3dup	noncoding	Benign
3	47407687	AC	A	C47407694A	PTPN23	NM_015466.4(PTPN23):c.1004-3del	noncoding	Benign
3	47848201	TG	T	G47848204T	DHX30	NM_138615.3(DHX30):c.2311del:p.Val771fs	coding	Pathogenic
3	48466657	TG	T	G48466660C	TREX1	NM_033629.6(TREX1):c.5del:p.Gly2fs	coding	Pathogenic
3	48466776	A	AGAT	T48466781A	TREX1	NM_033629.6(TREX1):c.123_125dup:p.Cys42Ter	coding	Pathogenic/Likely_pathogenic
3	48466791	A	AG	C48466793G	TREX1	NM_033629.6(TREX1):c.137dup:p.Ser46fs	coding	Pathogenic/Likely_pathogenic
3	48466792	GC	G	C48466799A	TREX1	NM_033629.6(TREX1):c.144del:p.Thr49fs	coding	Pathogenic/Likely_pathogenic
3	48466801	CCT	C	T48466805A	TREX1	NM_033629.6(TREX1):c.150_151del:p.Gln51fs	coding	Pathogenic
3	48466805	TCAGGGGCCACCTCC	T	G48466808C	TREX1	NM_033629.6(TREX1):c.153_166del:p.Gln51fs	coding	Pathogenic
3	48466949	A	ATGTT	T48466955G	TREX1	NM_033629.6(TREX1):c.296_299dup:p.Phe100fs	coding	Pathogenic
3	48467053	T	TG	C48467055G	TREX1	NM_033629.6(TREX1):c.399dup:p.Leu134fs	coding	Pathogenic
3	48467070	GC	G	C48467071T	TREX1	NM_033629.6(TREX1):c.416del:p.Ala139fs	coding	Pathogenic/Likely_pathogenic
3	48467790	A	AAACAC	G48467797A	TREX1	Single_allele	noncoding	Benign
3	48564883	AG	A	G48564886T	COL7A1	NM_000094.4(COL7A1):c.8717del:p.Pro2906fs	coding	Pathogenic
3	48564893	GC	G	C48564895T	COL7A1	NM_000094.4(COL7A1):c.8707del:p.Ala2903fs	coding	Pathogenic
3	48565090	G	GGGC	C48565092G	COL7A1	NM_000094.4(COL7A1):c.8620+18_8620+19insCGC	noncoding	Benign/Likely_benign
3	48565091	G	GGCA	C48565092G	COL7A1	NM_000094.4(COL7A1):c.8620+17_8620+18insTGC	noncoding	Benign
3	48565163	AGTATTCAGAGTACTCATCATCCTCAGGGG	A	T48565167C	COL7A1	NM_000094.4(COL7A1):c.8537_8565del:p.Pro2846fs	coding	Pathogenic
3	48565187	CAG	C	A48565188G	COL7A1	NM_000094.4(COL7A1):c.8540_8541del:p.Pro2847fs	coding	Pathogenic
3	48565188	A	AG	T48565194G	COL7A1	NM_000094.4(COL7A1):c.8540dup:p.Pro2847_Glu2848insTer	coding	Pathogenic
3	48565424	TGA	T	G48565429C	COL7A1	NM_000094.4(COL7A1):c.8511_8512del:p.His2838fs	coding	Pathogenic
3	48565789	A	AACAG	G48565794A	COL7A1	NM_000094.4(COL7A1):c.8408-125_8408-122dup	noncoding	Benign
3	48565790	ACAG	A	C48565791G	COL7A1	NM_000094.4(COL7A1):c.8408-125_8408-123del	noncoding	Benign
3	48565792	A	AACAG	G48565793A	COL7A1	NM_000094.4(COL7A1):c.8408-125_8408-124insCTGT	noncoding	Benign
3	48566302	CG	C	G48566304A	COL7A1	NM_000094.4(COL7A1):c.8371del:p.Arg2791fs	coding	Pathogenic
3	48566691	A	AC	A48566696C	COL7A1	NM_000094.4(COL7A1):c.8272dup:p.Val2758fs	coding	Pathogenic
3	48566700	GC	G	C48566705A	COL7A1	NM_000094.4(COL7A1):c.8263del:p.Ala2755fs	coding	Pathogenic
3	48566719	C	CG	A48566726G	COL7A1	NM_000094.4(COL7A1):c.8244dup:p.Gly2749fs	coding	Pathogenic
3	48566905	AC	A	C48566907T	COL7A1	NM_000094.4(COL7A1):c.8226+1del	noncoding	Pathogenic
3	48566908	TTCTGGCCCTGAAG	T	T48566911C	COL7A1	NM_000094.4(COL7A1):c.8212_8224del:p.Leu2738fs	coding	Pathogenic
3	48567015	TG	T	G48567019T	COL7A1	NM_000094.4(COL7A1):c.8117del:p.Pro2706fs	coding	Pathogenic
3	48567132	T	TCC	T48567137C	COL7A1	NM_000094.4(COL7A1):c.8103_8104dup:p.Glu2702fs	coding	Pathogenic
3	48567589	GC	G	C48567592T	COL7A1	NM_000094.4(COL7A1):c.8030del:p.Gly2677fs	coding	Pathogenic
3	48567610	C	CGACTG	C48567617A	COL7A1	NM_000094.4(COL7A1):c.8005_8009dup:p.Gly2671fs	coding	Pathogenic
3	48567642	GA	G	A48567649G	COL7A1	NM_000094.4(COL7A1):c.7984-7del	noncoding	Benign/Likely_benign
3	48568100	CG	C	G48568104A	COL7A1	NM_000094.4(COL7A1):c.7864del:p.Arg2622fs	coding	Pathogenic
3	48568136	CG	C	G48568138A	COL7A1	NM_000094.4(COL7A1):c.7828del:p.Arg2610fs	coding	Pathogenic
3	48568522	CACCAGGTTGACCCTGTGAGAAACACA	GGG	C48568522G	COL7A1	NM_000094.4(COL7A1):c.7759-14_7771delinsCCC	coding	Pathogenic
3	48568532	AC	A	C48568535T	COL7A1	NM_000094.3(COL7A1):c.7760del	coding	Pathogenic
3	48568785	T	TG	T48568790G	COL7A1	NM_000094.4(COL7A1):c.7756dup:p.Gln2586fs	coding	Pathogenic
3	48568833	TC	T	C48568834A	COL7A1	NM_000094.4(COL7A1):c.7708del:p.Asp2570fs	coding	Pathogenic
3	48569734	C	CT	A48569738T	COL7A1	NM_000094.4(COL7A1):c.7547dup:p.Gly2517_Asp2518insTer	coding	Pathogenic
3	48569865	T	TC	A48569870C	COL7A1	NM_000094.4(COL7A1):c.7521+14dup	noncoding	Benign
3	48569907	AG	A	G48569912C	COL7A1	NM_000094.4(COL7A1):c.7493del:p.Pro2498fs	coding	Pathogenic
3	48570693	TG	T	G48570699C	COL7A1	NM_000094.4(COL7A1):c.7289del:p.Pro2430fs	coding	Pathogenic
3	48570693	T	TG	C48570700G	COL7A1	NM_000094.4(COL7A1):c.7289dup:p.Gly2431fs	coding	Pathogenic
3	48570888	C	CA	T48570890A	COL7A1	NM_000094.4(COL7A1):c.7244dup:p.Met2415fs	coding	Pathogenic
3	48571110	TG	T	G48571112A	COL7A1	NM_000094.4(COL7A1):c.7154del:p.Pro2385fs	coding	Pathogenic
3	48572428	A	AG	A48572434G	COL7A1	NM_000094.4(COL7A1):c.6937-12dup	noncoding	Benign
3	48572428	A	AGG	A48572434G	COL7A1	NM_000094.4(COL7A1):c.6937-12_6937-11dup	noncoding	Benign
3	48572932	CCT	C	C48572933G	COL7A1	NM_000094.4(COL7A1):c.6759_6760del:p.Gly2254fs	coding	Pathogenic
3	48572942	CCT	C	C48572943G	COL7A1	NM_000094.4(COL7A1):c.6751-2_6751-1del	coding	Pathogenic
3	48573563	GA	G	A48573567G	COL7A1	NM_000094.4(COL7A1):c.6574-7del	noncoding	Benign
3	48574801	GC	G	C48574802A	COL7A1	NM_000094.4(COL7A1):c.6343del:p.Ala2115fs	coding	Pathogenic
3	48575073	AG	A	G48575078T	COL7A1	NM_000094.4(COL7A1):c.6269del:p.Pro2090fs	coding	Pathogenic
3	48575073	AGGGG	A	G48575075T	COL7A1	NM_000094.4(COL7A1):c.6266_6269del:p.Pro2089fs	coding	Pathogenic
3	48575216	ACGTTCTCCTTTCTCTCCC	A	T48575225C	COL7A1	NM_000094.4(COL7A1):c.6189_6206del:p.Lys2066_Glu2071del	coding	Pathogenic
3	48575226	TTCTC	T	T48575229C	COL7A1	NM_000094.4(COL7A1):c.6193_6196del:p.Glu2065fs	coding	Pathogenic
3	48575339	CCT	C	T48575345C	COL7A1	NM_000094.4(COL7A1):c.6178_6179del:p.Arg2060fs	coding	Pathogenic
3	48575386	G	GGAGCCT	C48575392T	COL7A1	NM_000094.4(COL7A1):c.6132_6133insAGGCTC:p.Leu2044_Pro2045insArgLeu	coding	Pathogenic
3	48575415	TC	T	C48575419G	COL7A1	NM_000094.4(COL7A1):c.6103del:p.Glu2035fs	coding	Pathogenic
3	48575457	A	AG	C48575461G	COL7A1	NM_000094.4(COL7A1):c.6061dup:p.Leu2021fs	coding	Pathogenic
3	48575476	CCT	C	C48575477G	COL7A1	NM_000094.4(COL7A1):c.6041_6042del:p.Gln2014fs	coding	Pathogenic
3	48575660	CC	TA	C48575660T	COL7A1	NM_000094.4(COL7A1):c.5944_5945delinsTA:p.Gly1982Ter	coding	Pathogenic
3	48575699	CTACCAGAGCTCTCA	C	A48575701C	COL7A1	NM_000094.4(COL7A1):c.5892_5905del:p.Asp1964fs	coding	Pathogenic
3	48576404	TCCCC	T	C48576405T	COL7A1	NM_000094.4(COL7A1):c.5764_5767del:p.Gly1922fs	coding	Pathogenic
3	48576910	CTT	C	T48576912C	COL7A1	NM_000094.4(COL7A1):c.5576_5577del:p.Lys1859fs	coding	Pathogenic
3	48576921	TAAGGAAGAC	T	A48576927T	COL7A1	NM_000094.4(COL7A1):c.5569-11_5569-3del	noncoding	Pathogenic
3	48576994	TCCTCC	T	C48576996G	COL7A1	NM_000094.4(COL7A1):c.5561_5565del:p.Gly1854fs	coding	Pathogenic
3	48578321	G	GT	C48578328T	COL7A1	NM_000094.4(COL7A1):c.5531dup:p.Asn1844fs	coding	Pathogenic
3	48578948	CA	C	A48578949G	COL7A1	NM_000094.4(COL7A1):c.5394del:p.Ala1799fs	coding	Pathogenic
3	48579260	AG	A	G48579265A	COL7A1	NM_000094.4(COL7A1):c.5324del:p.Pro1775fs	coding	Pathogenic
3	48579400	TC	T	C48579405T	COL7A1	NC_000003.11:g.48616834del	coding	Pathogenic
3	48579489	TG	T	G48579494T	COL7A1	NM_000094.4(COL7A1):c.5261del:p.Pro1754fs	coding	Pathogenic
3	48579494	GTCC	TGATTCA	G48579494T	COL7A1	NM_000094.4(COL7A1):c.5254_5257delinsTGAATCA:p.Gly1752_Pro1753delinsTer	coding	Pathogenic
3	48579592	TC	T	C48579596A	COL7A1	NM_000094.4(COL7A1):c.5230del:p.Glu1744fs	coding	Pathogenic
3	48579808	T	TGTGAG	C48579811G	COL7A1	NM_000094.4(COL7A1):c.5130_5131insCTCAC:p.Thr1711fs	coding	Pathogenic
3	48580614	TCC	T	C48580616T	COL7A1	NM_000094.4(COL7A1):c.5017_5018del:p.Gly1673fs	coding	Pathogenic
3	48581448	T	TG	T48581454G	COL7A1	NM_000094.4(COL7A1):c.4817dup:p.Gly1607fs	coding	Pathogenic
3	48581588	T	TC	T48581592C	COL7A1	NM_000094.4(COL7A1):c.4766dup:p.Asp1590fs	coding	Pathogenic
3	48582336	TC	T	C48582340A	COL7A1	NM_000094.4(COL7A1):c.4621del:p.Asp1541fs	coding	Pathogenic
3	48582341	AG	A	G48582344C	COL7A1	NM_000094.4(COL7A1):c.4616del:p.Pro1539fs	coding	Pathogenic
3	48582354	TC	T	C48582359T	COL7A1	NM_000094.3(COL7A1):c.4603del	coding	Pathogenic
3	48582554	AGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAAC	A	G48582555C	COL7A1	NM_000094.4(COL7A1):c.4531_4564-42del	noncoding	Pathogenic
3	48582617	CCTTGG	C	T48582620C	COL7A1	NM_000094.4(COL7A1):c.4550_4554del:p.Ala1517fs	coding	Pathogenic
3	48583395	T	TG	C48583400G	COL7A1	NM_000094.4(COL7A1):c.4434dup:p.Lys1479fs	coding	Pathogenic
3	48583407	CTCCAGGAGGTCCCCGTGGG	C	T48583408C	COL7A1	NM_000094.4(COL7A1):c.4404_4422del:p.Pro1469fs	coding	Pathogenic
3	48583736	AG	A	G48583742C	COL7A1	NM_000094.4(COL7A1):c.4322del:p.Pro1441fs	coding	Pathogenic
3	48583796	TA	T	A48583801T	COL7A1	NM_000094.4(COL7A1):c.4279-17del	noncoding	Benign
3	48584310	TC	T	C48584312A	COL7A1	NM_000094.4(COL7A1):c.4184del:p.Gly1395fs	coding	Pathogenic
3	48584322	TG	T	G48584328C	COL7A1	NM_000094.4(COL7A1):c.4172del:p.Pro1391fs	coding	Pathogenic
3	48585617	GCC	G	C48585619T	COL7A1	NC_000003.11:g.48623051_48623052del	coding	Pathogenic
3	48585690	CG	C	G48585693A	COL7A1	NM_000094.4(COL7A1):c.3830del:p.Pro1277fs	coding	Pathogenic
3	48586160	AG	A	G48586162T	COL7A1	NM_000094.4(COL7A1):c.3636del:p.Phe1213fs	coding	Pathogenic
3	48586330	AC	A	C48586332A	COL7A1	NM_000094.4(COL7A1):c.3550+1del	noncoding	Pathogenic
3	48587099	CG	C	G48587104C	COL7A1	NM_000094.4(COL7A1):c.3148del:p.Arg1050fs	coding	Pathogenic
3	48587208	ATGCC	A	G48587210C	COL7A1	NM_000094.4(COL7A1):c.3117_3120del:p.Glu1039fs	coding	Pathogenic
3	48587321	G	GGGGACCCAGGCACTTCTGCA	A48587344G	COL7A1	NM_000094.4(COL7A1):c.2993-5_3007dup	coding	Pathogenic
3	48587427	A	AG	C48587431G	COL7A1	NM_000094.4(COL7A1):c.2984dup:p.Gly996fs	coding	Pathogenic
3	48587552	ACT	A	C48587555G	COL7A1	NM_000094.4(COL7A1):c.2858_2859del:p.Glu953fs	coding	Pathogenic
3	48587845	ACT	A	T48587847A	COL7A1	NM_000094.4(COL7A1):c.2803_2804del:p.Ser935fs	coding	Pathogenic
3	48587866	T	TGTGTC	C48587869G	COL7A1	NM_000094.4(COL7A1):c.2783_2784insGACAC:p.Gln929fs	coding	Pathogenic
3	48587926	CTG	C	G48587928T	COL7A1	NM_000094.4(COL7A1):c.2722_2723del:p.Gln908fs	coding	Pathogenic
3	48588283	CT	C	T48588284C	COL7A1	NM_000094.4(COL7A1):c.2708del:p.Glu903fs	coding	Pathogenic
3	48588345	GCGAGTGCTCCC	G	A48588348C	COL7A1	NM_000094.4(COL7A1):c.2636_2646del:p.Gly879fs	coding	Pathogenic
3	48590694	TG	T	G48590696C	COL7A1	NM_000094.4(COL7A1):c.1758del:p.Ser587fs	coding	Pathogenic
3	48591674	AGTGGGAACCACGGTTGCAGGGGTGGCCACCTC	A	G48591679C	COL7A1	NM_000094.4(COL7A1):c.1474_1505del:p.Glu492fs	coding	Pathogenic
3	48592397	ACT	A	T48592399C	COL7A1	NM_000094.4(COL7A1):c.1045_1046del:p.Ser349fs	coding	Pathogenic
3	48592505	AGTGGGAGGGGGTACT	A	T48592507G	COL7A1	NM_000094.4(COL7A1):c.976+50_977-39del	noncoding	Pathogenic
3	48592569	CT	C	T48592570G	COL7A1	NM_000094.4(COL7A1):c.976del:p.Thr326fs	noncoding	Pathogenic
3	48593560	G	GC	T48593562C	COL7A1	NM_000094.4(COL7A1):c.402dup:p.Leu135fs	coding	Pathogenic
3	48593585	CA	C	A48593586C	COL7A1	NM_000094.4(COL7A1):c.377del:p.Val126fs	coding	Pathogenic
3	48593605	CTG	C	T48593608C	COL7A1	NM_000094.4(COL7A1):c.356_357del:p.Thr119fs	coding	Pathogenic
3	48593637	T	TCG	A48593639G	COL7A1	NM_000094.4(COL7A1):c.325_326insCG:p.Glu109fs	coding	Pathogenic
3	48593649	C	CG	A48593652G	COL7A1	NM_000094.4(COL7A1):c.313dup:p.Arg105fs	coding	Pathogenic
3	48594444	GC	G	C48594447T	COL7A1	NM_000094.4(COL7A1):c.189del:p.Leu64fs	coding	Pathogenic
3	48594507	G	GT	A48594509T	COL7A1	NM_000094.4(COL7A1):c.126dup:p.Leu43fs	coding	Pathogenic
3	48594536	CG	C	G48594537C	COL7A1	NM_000094.4(COL7A1):c.97del:p.Arg33fs	coding	Pathogenic
3	48594543	AG	A	G48594545T	COL7A1	NM_000094.4(COL7A1):c.90del:p.Cys31fs	coding	Pathogenic
3	48595089	TGGGCTCGCACTCG	T	T48595094G	COL7A1	NM_000094.4(COL7A1):c.58_70del:p.Arg20fs	coding	Pathogenic
3	48595127	GC	G	C48595128A	COL7A1	NM_000094.4(COL7A1):c.32del:p.Cys11fs	coding	Pathogenic
3	48635260	CCGAGGCGTCGCAAGCGGAGAATGCCTGCTCCAG	C	T48635301C	SLC26A6	NM_022911.3(SLC26A6):c.23+78_23+110del	noncoding	Benign
3	48862548	TA	T	A48862550G	SLC25A20	NM_000387.6(SLC25A20):c.528del:p.Met177fs	coding	Pathogenic
3	48891985	TAA	T	A48891989G	SLC25A20	NM_000387.6(SLC25A20):c.191_192del:p.Leu63_Phe64insTer	coding	Pathogenic
3	48898746	CG	C	G48898748C	SLC25A20	NM_000387.6(SLC25A20):c.48del:p.Gly17fs	coding	Pathogenic
3	49046469	AG	A	G49046472T	QRICH1	NM_198880.3(QRICH1):c.1626del:p.Tyr543fs	coding	Pathogenic
3	49046510	C	CA	G49046512A	QRICH1	NM_198880.3(QRICH1):c.1585dup:p.Cys529fs	coding	Pathogenic
3	49056907	T	TG	T49056909G	QRICH1	NM_198880.3(QRICH1):c.1292dup:p.Pro432fs	coding	Pathogenic
3	49057049	AAG	A	A49057056T	QRICH1	NM_198880.3(QRICH1):c.1149_1150del:p.Phe384fs	coding	Pathogenic
3	49057214	TG	T	G49057217T	QRICH1	NM_198880.3(QRICH1):c.985del:p.His329fs	coding	Pathogenic
3	49057781	TG	T	G49057783A	QRICH1	NM_198880.3(QRICH1):c.418del:p.Gln140fs	coding	Pathogenic
3	49076881	TG	T	G49076883A	QRICH1	NM_198880.3(QRICH1):c.136del:p.Gln46fs	coding	Pathogenic
3	49098457	ACT	A	C49098462A	QARS1	NM_005051.3(QARS1):c.1978_1979del:p.Leu661fs	coding	Pathogenic
3	49099091	CAT	C	A49099092G	QARS1	NM_005051.3(QARS1):c.1758+17_1758+18del	noncoding	Benign/Likely_benign
3	49099177	G	GT	G49099179T	QARS1	NM_005051.3(QARS1):c.1690dup:p.Thr564fs	coding	Pathogenic
3	49099550	T	TA	G49099552A	QARS1	NM_005051.3(QARS1):c.1485dup:p.Lys496Ter	coding	Pathogenic
3	49099584	AT	A	T49099585A	QARS1	NM_005051.3(QARS1):c.1451del:p.Tyr484fs	coding	Pathogenic/Likely_pathogenic
3	49099634	A	AGTAGGAAGAGC	C49099648A	QARS1	NM_005051.3(QARS1):c.1391_1401dup:p.Phe468fs	coding	Pathogenic
3	49099783	AGAGT	A	G49099794T	QARS1	NM_005051.3(QARS1):c.1362_1365del:p.Leu455fs	coding	Pathogenic
3	49099976	CGGTGGTGT	C	G49099981T	QARS1	NM_005051.3(QARS1):c.1272_1279del:p.His426fs	coding	Pathogenic
3	49100061	CG	C	G49100062C	QARS1	NM_005051.3(QARS1):c.1194del:p.Glu399fs	coding	Pathogenic
3	49100278	TG	T	G49100280C	QARS1	NM_005051.3(QARS1):c.1075del:p.His359fs	coding	Pathogenic
3	49101450	AG	A	G49101455A	QARS1	NM_005051.3(QARS1):c.790-10del	noncoding	Benign
3	49101851	TC	T	C49101857G	QARS1	NM_005051.3(QARS1):c.679del:p.Glu227fs	coding	Pathogenic
3	49103640	GC	G	C49103644A	QARS1	NM_005051.3(QARS1):c.441del:p.Leu148fs	coding	Pathogenic
3	49121961	CTG	C	G49121965C	LAMB2	NM_002292.4(LAMB2):c.4904_4905del:p.Thr1635fs	coding	Pathogenic
3	49123154	CT	C	T49123155C	LAMB2	NM_002292.4(LAMB2):c.4201del:p.Ser1401fs	coding	Pathogenic
3	49123536	CTTAGTGCATGG	C	A49123539G	LAMB2	NM_002292.4(LAMB2):c.3882_3892del:p.Asn1294fs	coding	Pathogenic
3	49123646	AG	A	G49123652T	LAMB2	NM_002292.4(LAMB2):c.3798-16del	noncoding	Benign
3	49124041	AGTGACCT	A	C49124046A	LAMB2	NM_002292.4(LAMB2):c.3477_3483del:p.Gly1160fs	coding	Pathogenic
3	49128541	T	TG	A49128544G	LAMB2	NM_002292.4(LAMB2):c.1934dup:p.Gly646fs	coding	Pathogenic
3	49129003	AG	A	G49129008A	LAMB2	NM_002292.4(LAMB2):c.1731+16del	noncoding	Benign
3	49129853	C	CT	G49129854T	LAMB2	NM_002292.4(LAMB2):c.1390_1391insA:p.Arg464fs	coding	Pathogenic
3	49129967	TG	T	G49129970A	LAMB2	NM_002292.4(LAMB2):c.1276del:p.His426fs	coding	Pathogenic
3	49130001	T	TGG	T49130006G	LAMB2	NM_002292.4(LAMB2):c.1241_1242dup:p.Met415fs	coding	Pathogenic
3	49130417	ACT	A	C49130420G	LAMB2	NM_002292.3(LAMB2):c.1037_1038del	coding	Pathogenic
3	49132121	AGG	A	G49132122T	LAMB2	NM_002292.4(LAMB2):c.452_453del:p.Thr151fs	coding	Pathogenic
3	49357107	C	CA	G49357127A	GPX1	Single_allele	noncoding	Benign
3	49417854	G	GT	G49417856T	AMT	NM_000481.4(AMT):c.996dup:p.His333fs	coding	Pathogenic/Likely_pathogenic
3	49418668	A	AT	G49418679T	AMT	NM_000481.4(AMT):c.877+293dup	noncoding	Benign
3	49419298	C	CG	C49419300G	AMT	NM_000481.4(AMT):c.657dup:p.Val220fs	coding	Pathogenic
3	49419346	A	AG	C49419350G	AMT	NM_000481.4(AMT):c.609dup:p.Phe204fs	coding	Pathogenic
3	49419352	GTT	G	T49419354C	AMT	NM_000481.4(AMT):c.602_603del:p.Lys201fs	coding	Pathogenic
3	49420339	TC	T	C49420343T	AMT	NM_001164710.2(AMT):c.340-552del	coding	Pathogenic
3	49421560	C	CGGGTG	A49421561G	AMT	NM_000481.4(AMT):c.270_271insCACCC:p.Gly91fs	coding	Pathogenic
3	49422104	C	CT	G49422106T	AMT	NM_000481.4(AMT):c.257dup:p.Thr87fs	coding	Pathogenic
3	49422137	GT	G	T49422138G	AMT	NM_000481.4(AMT):c.224del:p.His75fs	coding	Pathogenic
3	49422140	CT	C	T49422141G	AMT	NM_000481.4(AMT):c.221del:p.Gln74fs	coding	Pathogenic
3	49422190	GCAGA	G	A49422192T	AMT	NM_000481.4(AMT):c.168_171del:p.Leu57fs	coding	Pathogenic
3	49422391	C	CG	A49422398G	AMT	NM_000481.4(AMT):c.59dup:p.Ala21fs	coding	Pathogenic
3	49422391	CG	C	G49422397A	AMT	NM_000481.4(AMT):c.59del:p.Pro20fs	coding	Pathogenic
3	49468836	C	CA	T49468841A	DAG1	NM_001177643.2(DAG1):c.-332dup	noncoding	Benign
3	49468840	A	AT	G49468853T	DAG1	NM_001177643.2(DAG1):c.-320dup	noncoding	Benign
3	49510406	C	CT	C49510416T	DAG1	NM_004393.6(DAG1):c.-116-4dup	noncoding	Benign
3	49530786	GT	G	T49530787C	DAG1	NM_004393.6(DAG1):c.286-10del	noncoding	Benign/Likely_benign
3	49722457	CCCCT	C	C49722460T	GMPPB	NM_021971.4(GMPPB):c.611_614del:p.Glu204fs	coding	Pathogenic
3	49723079	C	CA	G49723081A	GMPPB	NM_021971.4(GMPPB):c.294dup:p.Glu99Ter	coding	Pathogenic
3	49723316	G	GC	A49723324C	GMPPB	NM_021971.4(GMPPB):c.211-15dup	noncoding	Benign
3	49724134	T	TGGCGGATCCAAA	A49724153T	GMPPB	Single_allele	noncoding	Benign
3	50191775	AG	A	G50191776A	GNAT1	NM_144499.3(GNAT1):c.51del:p.Lys18fs	coding	Pathogenic
3	50193170	G	GATGA	G50193176T	GNAT1	NM_144499.3(GNAT1):c.146_149dup:p.Lys50fs	coding	Pathogenic
3	50193182	GC	G	C50193186T	GNAT1	NM_144499.3(GNAT1):c.149+11del	noncoding	Benign
3	50193367	GACCACACTCAACATCCAGT	G	C50193370G	GNAT1	NM_144499.3(GNAT1):c.255_273del:p.Thr86fs	coding	Pathogenic
3	50218674	TG	T	G50218675C	SLC38A3	NM_006841.6(SLC38A3):c.1119del:p.Val373_Leu374insTer	coding	Pathogenic
3	50302265	TG	T	G50302267T	HYAL1	NM_033159.4(HYAL1):c.691del:p.Gln231fs	coding	Pathogenic
3	50302286	C	CCTGATGGG	A50302296T	HYAL1	NM_033159.4(HYAL1):c.663_670dup:p.Gly224fs	coding	Pathogenic
3	50302358	CCCCAGAGGCCGCG	C	C50302359A	HYAL1	NM_033159.4(HYAL1):c.586_598del:p.Arg196fs	coding	Pathogenic
3	50302432	G	GAACT	G50302437A	HYAL1	NM_033159.4(HYAL1):c.521_524dup:p.Phe175fs	coding	Pathogenic
3	50302717	GCC	G	C50302719A	HYAL1	NM_033159.4(HYAL1):c.238_239del:p.Gly80fs	coding	Pathogenic
3	50302735	G	GA	T50302740A	HYAL1	NM_033159.4(HYAL1):c.221dup:p.Tyr75fs	coding	Pathogenic
3	50302852	GA	G	A50302853C	HYAL1	NM_033159.4(HYAL1):c.104del:p.Val35fs	coding	Pathogenic
3	50302875	GT	G	T50302876A	HYAL1	NM_033159.4(HYAL1):c.81del:p.Asn29fs	coding	Pathogenic
3	50318278	AGT	A	G50318283C	HYAL2	NM_003773.5(HYAL2):c.1271_1272del:p.His424fs	coding	Pathogenic
3	50342522	AG	A	G50342527C	ZMYND10	NM_015896.4(ZMYND10):c.747del:p.Ser250fs	coding	Pathogenic
3	50347546	AC	A	C50347547A	NPRL2	NM_006545.5(NPRL2):c.*59del	noncoding	Benign
3	50350595	CC	G	C50350595G	NPRL2	NM_006545.5(NPRL2):c.57_58delinsC:p.Gly20fs	coding	Pathogenic
3	50365682	CAG	C	A50365683G	CACNA2D2	NM_006030.4(CACNA2D2):c.2920_2921del:p.Leu974fs	coding	Pathogenic
3	50365683	AG	A	G50365686A	CACNA2D2	NM_006030.4(CACNA2D2):c.2920del:p.Leu974fs	coding	Pathogenic
3	50367122	TG	T	G50367126A	CACNA2D2	NM_006030.4(CACNA2D2):c.2402-14del	noncoding	Benign
3	50367862	GC	G	C50367865G	CACNA2D2	NM_006030.4(CACNA2D2):c.2183del:p.Gly728fs	coding	Pathogenic
3	50370393	CG	C	G50370399T	CACNA2D2	NM_006030.4(CACNA2D2):c.1985-14del	noncoding	Benign
3	50375813	TC	T	C50375815A	CACNA2D2	NM_006030.4(CACNA2D2):c.1840del:p.Asp614fs	coding	Pathogenic
3	50375941	CCT	C	C50375942G	CACNA2D2	NM_006030.4(CACNA2D2):c.1773+20_1773+21del	noncoding	Benign
3	50377557	TG	T	G50377563C	CACNA2D2	NM_006030.4(CACNA2D2):c.1552-17del	noncoding	Benign
3	50379988	GTC	G	C50379990T	CACNA2D2	NM_006030.4(CACNA2D2):c.871_872del:p.Asp291fs	coding	Pathogenic
3	50476170	T	TG	C50476172G	CACNA2D2	NM_006030.4(CACNA2D2):c.235dup:p.Gln79fs	coding	Pathogenic
3	50503320	C	CGCCGGGT	G50503334T	CACNA2D2	NM_006030.4(CACNA2D2):c.97_103dup:p.Arg35fs	coding	Pathogenic
3	50503464	TGGCGGC	T	C50503482G	CACNA2D2	NM_006030.4(CACNA2D2):c.-62GCC[5]	noncoding	Benign
3	50646730	GC	G	C50646736T	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.830-4del	noncoding	Benign
3	50646730	G	GC	T50646737C	MAPKAPK3	NM_001243925.2(MAPKAPK3):c.830-4dup	noncoding	Benign
3	50841704	C	CCAAATGT	G50841712C	DOCK3	NM_004947.5(DOCK3):c.152_158dup:p.Gly55fs	coding	Pathogenic
3	50890076	TA	T	A50890077G	DOCK3	NM_004947.5(DOCK3):c.214del:p.Arg72fs	coding	Pathogenic
3	52125144	T	TC	G52125150C	POC1A	NM_015426.5(POC1A):c.850dup:p.Glu284fs	coding	Pathogenic
3	52145856	C	CTG	C52145859T	POC1A	NM_015426.5(POC1A):c.667_668dup:p.Gln223fs	coding	Pathogenic
3	52145919	AATGCACGTCCCAC	A	A52145920T	POC1A	NM_015426.5(POC1A):c.593_605del:p.Ser198fs	coding	Pathogenic
3	52293000	CT	C	T52293002C	GLYCTK	NM_145262.4(GLYCTK):c.1448del:p.Phe483fs	coding	Pathogenic
3	52293110	TC	T	C52293112T	GLYCTK	NM_145262.4(GLYCTK):c.1558del:p.Leu520fs	coding	Pathogenic
3	52331619	CTTTTTTTTTT	C	T52331633G	DNAH1	NM_015512.5(DNAH1):c.1033+324_1033+333del	noncoding	Benign
3	52347870	TCTGGGGTGCA	T	G52347873A	DNAH1	NM_015512.5(DNAH1):c.2005_2014del:p.Gly669fs	coding	Pathogenic
3	52352598	A	ACGAGATCGCCAACGAGGTG	G52352620A	DNAH1	NM_015512.5(DNAH1):c.2921_2939dup:p.Arg981fs	coding	Pathogenic
3	52354634	G	GA	G52354651A	DNAH1	NM_015512.5(DNAH1):c.3481-193dup	noncoding	Benign
3	52356597	G	GCCCCT	A52356612T	DNAH1	NM_015512.5(DNAH1):c.3694-16CCCCT[3]	noncoding	Benign
3	52360089	T	TG	C52360096G	DNAH1	NM_015512.5(DNAH1):c.4571+16dup	noncoding	Benign
3	52370010	CT	C	T52370012C	DNAH1	NM_015512.5(DNAH1):c.6131del:p.Phe2044fs	coding	Pathogenic
3	52385853	TAGAA	T	A52385858G	DNAH1	NM_015512.5(DNAH1):c.8626-302_8626-299del	noncoding	Benign
3	52388946	T	TC	A52388951C	DNAH1	NM_015512.5(DNAH1):c.9495+13dup	noncoding	Benign
3	52395937	CCTT	C	C52395938T	DNAH1	NM_015512.5(DNAH1):c.11259+260_11259+262del	noncoding	Benign
3	52402606	CTGAGCCAGCATGGAGA	C	G52402608A	BAP1	NM_004656.4(BAP1):c.2036_2051del:p.Ile679fs	coding	Pathogenic
3	52402844	CCA	C	A52402850T	BAP1	NM_004656.4(BAP1):c.1916_1917del:p.Val639fs	coding	Pathogenic
3	52403158	CA	C	A52403159C	BAP1	NM_004656.4(BAP1):c.1869del:p.Ser623fs	coding	Pathogenic
3	52403193	TTC	T	C52403199G	BAP1	NM_004656.4(BAP1):c.1833_1834del:p.Lys612fs	coding	Pathogenic
3	52403234	TG	T	G52403237C	BAP1	NM_004656.4(BAP1):c.1793del:p.Pro598fs	coding	Pathogenic
3	52403241	CT	C	T52403242G	BAP1	NM_004656.4(BAP1):c.1786del:p.Ser596fs	coding	Pathogenic
3	52403249	CT	C	T52403250G	BAP1	NM_004656.4(BAP1):c.1778del:p.Gln593fs	coding	Pathogenic
3	52403257	CTTGGA	C	A52403262T	BAP1	NM_004656.4(BAP1):c.1766_1770del:p.Ile589fs	coding	Pathogenic
3	52403261	G	GATTGA	G52403266A	BAP1	NM_004656.4(BAP1):c.1766_1767insTCAAT:p.Gly591fs	coding	Pathogenic
3	52403435	C	CG	A52403436G	BAP1	NM_004656.4(BAP1):c.1709_1710insC:p.Ser571fs	coding	Pathogenic
3	52403483	AC	A	C52403486A	BAP1	NM_004656.4(BAP1):c.1661del:p.Gly554fs	coding	Pathogenic
3	52403556	AC	A	C52403558T	BAP1	NM_004656.4(BAP1):c.1588del:p.Val530fs	coding	Pathogenic/Likely_pathogenic
3	52403600	GT	G	T52403602G	BAP1	NM_004656.4(BAP1):c.1544del:p.Asn515fs	coding	Pathogenic
3	52403621	GC	G	C52403622G	BAP1	NM_004656.4(BAP1):c.1523del:p.Arg508fs	coding	Pathogenic
3	52403658	GCCGT	G	C52403659G	BAP1	NM_004656.4(BAP1):c.1483_1486del:p.Thr495fs	coding	Pathogenic
3	52403663	GTC	G	C52403665G	BAP1	NM_004656.4(BAP1):c.1480_1481del:p.Asp494fs	coding	Pathogenic
3	52403674	C	CT	A52403675T	BAP1	NM_004656.4(BAP1):c.1470_1471insA:p.Glu491fs	coding	Pathogenic
3	52403761	G	GA	T52403764A	BAP1	NM_004656.4(BAP1):c.1383dup:p.Pro462fs	coding	Pathogenic
3	52403833	AC	A	C52403834A	BAP1	NM_004656.4(BAP1):c.1311del:p.Ser438fs	coding	Pathogenic
3	52403870	CTTCCCTG	C	G52403877T	BAP1	NM_004656.4(BAP1):c.1268_1274del:p.Thr423fs	coding	Pathogenic
3	52404493	C	CA	T52404495A	BAP1	NM_004656.4(BAP1):c.1209dup:p.Asp404Ter	coding	Pathogenic
3	52404551	GCTGCGGCCCACAC	G	G52404556C	BAP1	NM_004656.4(BAP1):c.1139_1151del:p.Gly380fs	coding	Pathogenic
3	52405137	AT	A	T52405139G	BAP1	NM_004656.4(BAP1):c.1088del:p.Asn363fs	coding	Pathogenic
3	52405232	GT	G	T52405235G	BAP1	NM_004656.4(BAP1):c.993del:p.Lys331fs	coding	Pathogenic
3	52405281	C	CT	C52405283T	BAP1	NM_004656.4(BAP1):c.944dup:p.Ala316fs	coding	Pathogenic
3	52405753	A	AC	A52405760C	BAP1	NM_004656.4(BAP1):c.931+6dup	noncoding	Benign/Likely_benign
3	52405864	CTT	C	T52405865G	BAP1	NM_004656.4(BAP1):c.830_831del:p.Gln277fs	coding	Pathogenic
3	52405895	CTG	C	G52405899T	BAP1	NM_004656.4(BAP1):c.799_800del:p.Gln267fs	coding	Pathogenic
3	52406272	ACTGT	A	T52406276A	BAP1	NM_004656.4(BAP1):c.760_763del:p.Thr254fs	coding	Pathogenic
3	52406314	T	TA	C52406316A	BAP1	NM_004656.4(BAP1):c.721dup:p.Tyr241fs	coding	Pathogenic
3	52406862	A	AC	G52406866C	BAP1	NM_004656.4(BAP1):c.625dup:p.Val209fs	coding	Pathogenic
3	52406862	ACC	A	C52406864G	BAP1	NM_004656.4(BAP1):c.624_625del:p.Val209fs	coding	Pathogenic
3	52406894	C	CT	C52406896T	BAP1	NM_004656.4(BAP1):c.593dup:p.Asp199fs	coding	Pathogenic
3	52406895	T	TC	A52406902C	BAP1	NM_004656.4(BAP1):c.592dup:p.Glu198fs	coding	Pathogenic/Likely_pathogenic
3	52407198	GC	G	C52407201A	BAP1	NM_004656.4(BAP1):c.555del:p.Gly185_Leu186insTer	coding	Pathogenic
3	52407210	CAA	C	A52407212G	BAP1	NM_004656.4(BAP1):c.542_543del:p.Leu180_Phe181insTer	coding	Pathogenic
3	52407295	AG	A	G52407298A	BAP1	NM_004656.4(BAP1):c.458del:p.Pro153fs	coding	Pathogenic
3	52407301	G	GT	G52407303T	BAP1	NM_004656.4(BAP1):c.452dup:p.His151fs	coding	Pathogenic
3	52407399	C	CT	G52407401T	BAP1	NM_004656.4(BAP1):c.436dup:p.Arg146fs	coding	Pathogenic
3	52407413	AT	A	T52407414G	BAP1	NM_004656.4(BAP1):c.422del:p.His141fs	coding	Pathogenic
3	52407973	C	CT	G52407976T	BAP1	NM_004656.4(BAP1):c.359dup:p.Ser123fs	coding	Pathogenic
3	52407997	CAG	C	A52407998G	BAP1	NM_004656.4(BAP1):c.334_335del:p.Leu112fs	coding	Pathogenic
3	52408062	AAG	A	A52408065T	BAP1	NM_004656.4(BAP1):c.269_270del:p.Ser90fs	coding	Pathogenic
3	52408478	TG	T	G52408481C	BAP1	NM_004656.4(BAP1):c.250del:p.His84fs	coding	Pathogenic
3	52408525	AT	A	T52408526C	BAP1	NM_004656.4(BAP1):c.203del:p.Asp68fs	coding	Pathogenic
3	52408596	CA	C	A52408597T	BAP1	NM_004656.4(BAP1):c.132del:p.Val43_Tyr44insTer	coding	Pathogenic
3	52409555	CCT	C	C52409556G	BAP1	NM_004656.4(BAP1):c.119_120del:p.Gln40fs	coding	Pathogenic
3	52409566	CTCTGAAGG	C	T52409569G	BAP1	NM_004656.4(BAP1):c.102_109del:p.Asp34fs	coding	Pathogenic
3	52409587	TC	T	C52409589A	BAP1	NM_004656.4(BAP1):c.88del:p.Glu30fs	coding	Pathogenic
3	52409722	T	TCA	C52409724A	BAP1	NM_004656.4(BAP1):c.58_59insTG:p.Glu20fs	coding	Pathogenic
3	52409731	A	AG	T52409735G	BAP1	NM_004656.4(BAP1):c.49dup:p.Leu17fs	coding	Pathogenic
3	52452267	TG	T	G52452273C	TNNC1	NM_003280.3(TNNC1):c.56-16del	noncoding	Benign
3	52550218	AAAAAC	A	A52550237C	PBRM1	NM_018313.5(PBRM1):c.4576+183GTTTT[3]	noncoding	Benign
3	52563056	TTAAATTATTAATGGTATTAATA	T	T52563071G	PBRM1	NM_018313.5(PBRM1):c.3930+286_3930+307del	noncoding	Benign
3	52587570	C	CT	A52587591T	PBRM1	NM_018313.5(PBRM1):c.2966-155dup	noncoding	Benign
3	52587806	T	TTTC	A52587809C	PBRM1	NM_018313.5(PBRM1):c.2966-372_2966-371insAAG	noncoding	Benign
3	52627002	G	GA	C52627014A	PBRM1	NM_018313.5(PBRM1):c.1541+260dup	noncoding	Benign
3	52662294	GA	G	A52662305C	PBRM1	NM_018313.5(PBRM1):c.385-19del	noncoding	Benign
3	52662294	G	GA	C52662306A	PBRM1	NM_018313.5(PBRM1):c.385-29dup	noncoding	Benign
3	52668783	TA	T	A52668799G	PBRM1	NM_018313.5(PBRM1):c.237-139del	noncoding	Benign
3	52668783	T	TAA	G52668800A	PBRM1	NM_018313.5(PBRM1):c.237-154_237-153dup	noncoding	Benign
3	52668783	T	TA	G52668800A	PBRM1	NM_018313.5(PBRM1):c.237-154dup	noncoding	Benign
3	52679290	T	TC	A52679293C	PBRM1	NM_018313.5(PBRM1):c.138+282dup	noncoding	Benign
3	52695669	T	TTAAA	C52695674T	GLT8D1	NM_018446.4(GLT8D1):c.646-86_646-83dup	noncoding	Benign
3	52697536	TCTC	T	C52697539A	GLT8D1	NM_018446.4(GLT8D1):c.329+182_329+184del	noncoding	Benign
3	52700564	CT	C	T52700579A	GLT8D1	NM_018446.4(GLT8D1):c.-36-69del	noncoding	Benign
3	53092656	TTGCCCTGGACAAGGC	T	C53092660T	RFT1	NM_052859.4(RFT1):c.1209-53_1209-39del	noncoding	Benign
3	53104386	C	CT	A53104401T	RFT1	NM_052859.4(RFT1):c.958-303dup	noncoding	Benign
3	53105410	TCCCCG	T	G53105415C	RFT1	NM_052859.4(RFT1):c.957+258_957+262del	noncoding	Benign
3	53107136	G	GT	G53107154T	RFT1	NM_052859.4(RFT1):c.776-284dup	noncoding	Benign
3	53107136	GTTTT	G	T53107150G	RFT1	NM_052859.4(RFT1):c.776-271_776-268del	noncoding	Benign
3	53120116	ATTAACT	A	T53120117G	RFT1	NM_052859.4(RFT1):c.559-101_559-96del	noncoding	Benign
3	53120123	GCACT	G	C53120124T	RFT1	NM_052859.4(RFT1):c.559-106_559-103del	noncoding	Benign
3	53126009	GA	G	A53126014T	RFT1	NM_052859.4(RFT1):c.64-16del	noncoding	Benign
3	53179799	C	CGTGT	C53179820G	PRKCD	NM_006254.4(PRKCD):c.315+24GT[12]	noncoding	Benign
3	53179799	C	CGTGTGT	C53179820G	PRKCD	NM_006254.4(PRKCD):c.315+24GT[13]	noncoding	Benign
3	53181733	G	GT	A53181735T	PRKCD	NM_006254.4(PRKCD):c.571+2dup	coding	Pathogenic
3	53183190	AC	A	C53183191A	PRKCD	NM_006254.4(PRKCD):c.642del:p.Asn214fs	coding	Pathogenic
3	53184690	A	AAG	T53184710G	PRKCD	NM_006254.4(PRKCD):c.788-183AG[10]	noncoding	Benign
3	53186457	T	TC	T53186464C	PRKCD	NM_006254.4(PRKCD):c.1260+123dup	noncoding	Benign
3	53186463	C	CG	T53186464G	PRKCD	NM_006254.4(PRKCD):c.1260+123_1260+124insG	noncoding	Benign
3	53186636	C	CG	A53186644G	PRKCD	NM_006254.4(PRKCD):c.1300dup:p.Asp434fs	coding	Pathogenic
3	53186643	GA	G	A53186644C	PRKCD	NM_006254.4(PRKCD):c.1301del:p.Asp434fs	coding	Pathogenic
3	53186747	GCTCAGAGC	G	T53186749C	PRKCD	NM_006254.4(PRKCD):c.1352+54_1352+61del	noncoding	Benign
3	53189270	GCTGGT	G	T53189275G	PRKCD	NM_006254.4(PRKCD):c.1743+29_1743+33del	noncoding	Benign
3	53495966	CG	C	G53495967C	CACNA1D	NM_001128840.3(CACNA1D):c.67+734del	noncoding	Benign
3	53660291	TTCC	T	C53660293A	CACNA1D	NM_001128840.3(CACNA1D):c.766+18_766+20del	noncoding	Benign
3	53665639	AT	A	T53665648G	CACNA1D	NM_001128840.3(CACNA1D):c.767-12del	noncoding	Benign
3	53672758	CTGTG	C	G53672816A	CACNA1D	NM_001128840.3(CACNA1D):c.1117-264TG[28]	noncoding	Benign
3	53672758	CTGTGTG	C	G53672814A	CACNA1D	NM_001128840.3(CACNA1D):c.1117-264TG[27]	noncoding	Benign
3	53672758	CTGTGTGTG	C	G53672812A	CACNA1D	NM_001128840.3(CACNA1D):c.1117-264TG[26]	noncoding	Benign
3	53672758	CTGTGTGTGTGTG	C	G53672808A	CACNA1D	NM_001128840.3(CACNA1D):c.1117-264TG[24]	noncoding	Benign
3	53672758	CTGTGTGTGTGTGTG	C	G53672806A	CACNA1D	NM_001128840.3(CACNA1D):c.1117-264TG[23]	noncoding	Benign
3	53672758	CTGTGTGTGTGTGTGTG	C	G53672804A	CACNA1D	NM_001128840.3(CACNA1D):c.1117-264TG[22]	noncoding	Benign
3	53673562	GAA	G	A53673576G	CACNA1D	NM_001128840.3(CACNA1D):c.1220+450_1220+451del	noncoding	Benign
3	53673562	GA	G	A53673577G	CACNA1D	NM_001128840.3(CACNA1D):c.1220+451del	noncoding	Benign
3	53726673	A	AT	C53726682T	CACNA1D	NM_001128840.3(CACNA1D):c.2101-198dup	noncoding	Benign
3	53727128	TA	T	A53727129G	CACNA1D	NM_001128840.3(CACNA1D):c.2221+130del	noncoding	Benign
3	53730245	CTTTTG	C	T53730274G	CACNA1D	NM_001128840.3(CACNA1D):c.2222-196TTTTG[5]	noncoding	Benign
3	53730245	CTTTTGTTTTG	C	T53730269G	CACNA1D	NM_001128840.3(CACNA1D):c.2222-196TTTTG[4]	noncoding	Benign
3	53740567	GT	G	T53740577G	CACNA1D	NM_001128840.3(CACNA1D):c.2811+238del	noncoding	Benign
3	53740598	G	GT	G53740611T	CACNA1D	NM_001128840.3(CACNA1D):c.2811+271dup	noncoding	Benign
3	53740598	GT	G	T53740610G	CACNA1D	NM_001128840.3(CACNA1D):c.2811+271del	noncoding	Benign
3	53761745	AGT	A	G53761764A	CACNA1D	NM_001128840.3(CACNA1D):c.3787-252GT[9]	noncoding	Benign
3	53775645	CAGTT	C	T53775648C	CACNA1D	NM_001128840.3(CACNA1D):c.4203-238_4203-235del	noncoding	Benign
3	53781551	GT	G	T53781557G	CACNA1D	NM_001128840.3(CACNA1D):c.4691-9del	noncoding	Benign
3	53808413	CA	C	A53808428G	CACNA1D	NM_001128840.3(CACNA1D):c.5750-221del	noncoding	Benign
3	55468138	TA	T	A55468156G	WNT5A	NM_003392.7(WNT5A):c.*1953del	noncoding	Benign
3	55468138	T	TAAAA	G55468157A	WNT5A	NM_003392.7(WNT5A):c.*1950_*1953dup	noncoding	Benign
3	55487921	T	TC	A55487932C	WNT5A	Single_allele	noncoding	Benign
3	57096615	TA	T	A57096618C	IL17RD	NM_017563.5(IL17RD):c.2108-111del	noncoding	Benign
3	57103204	GA	G	A57103211T	IL17RD	NM_017563.5(IL17RD):c.814-60del	noncoding	Benign
3	57110034	TG	T	G57110036A	IL17RD	NM_017563.5(IL17RD):c.429+158del	noncoding	Benign
3	57198229	TC	T	C57198230G	HESX1	NM_003865.3(HESX1):c.525del:p.Asn178fs	coding	Pathogenic
3	57199651	ATAAAT	A	T57199661G	HESX1	NM_003865.3(HESX1):c.157+106_157+110del	noncoding	Benign
3	57242230	GA	G	A57242238C	APPL1	NM_012096.3(APPL1):c.415+96del	noncoding	Benign
3	57249766	T	TA	G57249770A	APPL1	NM_012096.3(APPL1):c.1052+221dup	noncoding	Benign
3	57257436	A	AT	A57257438T	APPL1	NM_012096.3(APPL1):c.1430+9dup	noncoding	Benign/Likely_benign
3	57268092	C	CA	G57268105A	APPL1	NM_012096.3(APPL1):c.1894-294dup	noncoding	Benign
3	57269450	A	AGAATT	G57269454T	APPL1	NM_012096.3(APPL1):c.1984-88_1984-87insTTGAA	coding	Benign
3	57831369	G	GT	G57831379T	SLMAP	NM_001377540.1(SLMAP):c.199-5dup	noncoding	Benign
3	57831547	C	CT	A57831555T	SLMAP	NM_001377540.1(SLMAP):c.346+24dup	noncoding	Benign
3	57841389	CTGTGAAGTTTT	C	T57841400A	SLMAP	NM_001377540.1(SLMAP):c.419+29_419+39del	noncoding	Benign
3	57860849	TC	T	C57860850A	SLMAP	NM_001377540.1(SLMAP):c.828+11del	noncoding	Benign
3	57860849	T	TA	C57860850A	SLMAP	NM_001377540.1(SLMAP):c.828+10_828+11insA	noncoding	Benign
3	57860850	CA	C	A57860860T	SLMAP	NM_001377540.1(SLMAP):c.828+21del	noncoding	Benign
3	57860850	C	CA	T57860861A	SLMAP	NM_001377540.1(SLMAP):c.828+21dup	noncoding	Benign
3	57861123	GT	G	T57861124G	SLMAP	NM_001377540.1(SLMAP):c.828+285del	noncoding	Benign
3	57896495	AT	A	T57896502C	SLMAP	NM_001377540.1(SLMAP):c.1361-9del	noncoding	Benign
3	57922867	CT	C	T57922876C	SLMAP	NM_001377540.1(SLMAP):c.2311-13del	noncoding	Benign
3	57927138	C	CA	C57927140A	SLMAP	NM_001377540.1(SLMAP):c.*7-157dup	noncoding	Benign
3	58008652	C	CT	C58008654T	FLNB	NM_001457.4(FLNB):c.89dup:p.Lys31fs	coding	Pathogenic
3	58095225	G	GTATT	G58095229T	FLNB	NM_001457.4(FLNB):c.906+274_906+275insTTAT	noncoding	Benign
3	58095225	G	GTATTTATTTATT	G58095229T	FLNB	NM_001457.4(FLNB):c.906+274_906+275insTTATTTATTTAT	noncoding	Benign
3	58095225	G	GTATTTATTTATTTATT	G58095229T	FLNB	NM_001457.4(FLNB):c.906+274_906+275insTTATTTATTTATTTAT	noncoding	Benign
3	58095229	G	GTATGTATTTATT	T58095233G	FLNB	NM_001457.4(FLNB):c.906+278_906+279insGTATTTATTTAT	noncoding	Benign
3	58095229	G	GTATTTATTTATTTATT	G58095258T	FLNB	NM_001457.4(FLNB):c.906+276TATT[11]	noncoding	Benign
3	58095229	G	GTATTTATTTATTTATTTATT	G58095258T	FLNB	NM_001457.4(FLNB):c.906+276TATT[12]	noncoding	Benign
3	58097938	AT	A	T58097939C	FLNB	NM_001457.4(FLNB):c.1109del:p.Ile370fs	coding	Pathogenic
3	58098766	CG	C	G58098767T	FLNB	NM_001457.4(FLNB):c.1204del:p.Val402fs	coding	Pathogenic
3	58102286	G	CT	G58102286C	FLNB	NM_001457.4(FLNB):c.1429delinsCT:p.Val477fs	coding	Pathogenic
3	58103867	GT	G	T58103869C	FLNB	NM_001457.4(FLNB):c.1484-90del	noncoding	Benign
3	58103967	GA	G	A58103968G	FLNB	NM_001457.4(FLNB):c.1493del:p.Glu498fs	coding	Pathogenic
3	58104198	CT	C	T58104215C	FLNB	NM_001457.4(FLNB):c.1610+130del	noncoding	Benign
3	58105205	T	TG	T58105210G	FLNB	NM_001457.4(FLNB):c.1740dup:p.Ser581fs	coding	Pathogenic
3	58122738	GAGCCCTCAACCTGGGATCTCGTGTATCTTTGTTGGAATGGACATTAGGTTTCCAAGTCCAGGCCTGTGATTTAGAAGGGTCAGGTTGGGTAGGAGAGAGGAGAGTCTTGGAGGGGCTGCTCCATGGGGGTCACACCTCTCTCCTGTGGGTTTTCGCTGGTGATTGAGTTCTGAGGCATTTGCTGCATTGACTGTTGTAGCTTTAACTCGTGTGCACGTGTGACACATAAAGCCCCAAGAGAAGGGCTGCCTGGCTCAGATGCACTTCCATGCTGATTATATGCATGGGTGTTGAAAGCAGTGCTGGCTGAGCAGCGATCCCAGTGCAGTTTGACTTTATTCTTTGCTCAAATAGGTGAAGGCCCACGGTCCCGGCCTCGAAGGTGGTCTCGTGGGCAAGCCTGCCGAGTTCACCATCGATACCAAAGGAGCTGGTACTGGAGGTCTGGGCTTAACGGTGGAAGGTCCGTGCGAGGCCAAAATCGAGTGCTCCGACAATGGTGATGGGACCTGCTCCGTCTCTTACCTTCCCACAAAACCCGGGGAGTACTTCGTCAACATCCTCTTTGAAGAAGTCCACATACCTGGGTCTCCCTTCAAAGCTGACATTGAAATGCCCTTTGACCCCTCTAAAGTCGTGGCATCGGGGCCAGGTCTCGAGCACGGGAAGGTGGGTGAAGCTGGCCTCCTTAGCGTCGACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGAAGCTGTCTCGGACTCGGGAACAAAAGCCGAAGTCAGTATTCAGAACAACAAAGATGGCACCTACGCGGTGACCTACGTGCCCCTGACGGCCGGCATGTACACGTTGACCATGAAGTATGGTGGCGAACTCGTGCCACACTTCCCCGCCCGGGTCAAGGTGGAGCCCGCCGTGGACACCAGCAGGATCAAAGTCTTTGGACCAGGAATAGAAGGGAAAGGTGGGTTTCATTTAAAAAAAAAAAAAAAAAAAAAAAGACAAGCTGGGACTTAAGGGCTACCTGAAACTTGGAGCTGCAAACTCAGCCACCTGCAGGAGCCAGGTGACATATAAGGCGGTGCTCACCTGTTCCCTCTGCCTCGGGGAGTAGTTGGGGGGCCCTGGTGAAGGTTAAGCACATTGCATTTCTGGGGACCGTGCTACTCAACCCCTGTTTTCTGTTTCTCCATGGGGAACAGGACCTAGCATTGTCAGCAGAATCTCTAGTTTTTTGGCAAAGGCAGAAATCTTGATTTTTCTCTGGAAACTCAACATACAACATGTTGGCATTTAATTGGAAAAAAGTTTAAAATGTAGTGTTGTCTAACACCTGCATGCCACACAGCAGGTTAGTCTTCAACCTTTAACCTGTCCTCGAGCCCGGTGTGAGCAGTCGTGTTGTCACTTAGCCGTGGCTACTCTAGAAAGGCCTTCTTTGGGATGGAGGGGGTTAATATTCTTGATTTGAGAGTTAGAAAAACCAGTTTTCCAGTTACTGAAATTGGACTTCATGTGTCCTGAAGTGCCAAGAACCTTGGTTCTGGGGTTTGCTTTTGGGTCTGGGGTACTGGTGGCAGTGTTAGCTATGTGCTTGCTCTGCAGATGTGTTCCGGGAAGCTACCACCGACTTTACAGTTGACTCTCGGCCGCTGACCCAGGTTGGGGGTGACCACATCAAGGCCCACATTGCCAACCCCTCAGGGGCCTCCACCGAGTGCTTTGTCACAGACAATGCGGATGGGACCTACCAGGTGGAATACACACCCTTTGAGAAAGGTGAGCCGCCCTGTCCTCGGACTGGACCCTCGTTCAGAGCTGCCCTTGGTCATTGCCTCCTGGTGGCTGGTACTGATGCCTGCCCCATGTGCTAGGCCTGTCTCAGCAGGGCCACGTGCAGAGTGACAGAGTGGAAGTCAGCGTCCGCTGCAGTCACCTGCCCACTCAGTGCCTGGCTTGCTGGCCTTGTGTAATAGGTGGGCTGGGTTTAGCCTCAGTCTCACCTCAGCAAGTTATGGGGTAATGTCATGATGTTGCTCATTTGTGCCATTTTTCTTTGCGTATGAATTTCTTTCTTCTTGAGTATTAGGAATTATAAAAAATTTCAATAAATAGAAAACCATAAAGAAAAAAAAGTGCCATGTATATCTCCACTACCTGGAGATCGGAAGCCTGCGATATTCTGATATAGATATTTTCAGTCTTCTTGTGGATGCCTGTTTCTTCTGTTTCACGGGTTTCGCTTTTTCTTTTGGTTAATGGCTGGATGGTGTTTTCCCGAATGAGAGTAGTCTGTTTAGGATGACTGACTTGAATATTTGCTTGGTTGGGGTGGAGTGGCTTATGTGACTGCAGATAGACGGTTTGTATTATTTAAAAGTCAGATCATACCTACATTACTGTGGGATTGTTTTGTTTTGTTTTGAAACAGGATGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGGCTCAACCTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGGAACTGCAGGTGTGCACCACCACACTCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTAAGCCACTGCCCCCAGCCACATTACTGTGTTTTTAACCCCCTTTTCCAAATAACATAGTATAGCATGCAGACTTCGATGCTAGATGAAACTCTGAAGTAGAGAATCATTTTTCACAAATAGGGGATTTGTATGCAAATATGCGTTTCTGTTTGTTGTTTTGAGCAGGTCTCCATGTAGTGGAGGTGACATATGATGACGTGCCTATCCCAAACAGTCCCTTCAAGGTGGCTGTCACTGAAGGCTGCCAGCCATCTAGGGTGCAAGCCCAAGGACCTGGATTGAAAGAGGCCTTTACCAACAAGCCCAATGTCTTCACCGTGGTTACCAGGTAGGCAAGGCCCTACATTTGGTGTCTTGAGTCTCACTTTTGTGGCTAGATTCTACCTATGTGTCATGGTTTCCTAACTTTTGATAAGATGAATTTTTATTTTTATAACATGTATTTCCTTCTGTAGAGACTTATGTTACATAGAAAGACCAAGCATACCTAAAAAACATACCAAAGCACTTGATAATGGTCATGAAACTATTTAGCAAACCAGGAGTCAATCAAGCTCTATAACTTGATAATGTAAAAATTTGTAGCCAACCTTGTAAGTATTTTTATTAAAGTTGGTTGCAAGGCATATGCCTGCGTTGTACTTGCAGTCCTAGCCAGTGCAATTAGATAAGAAAAATAGGCTGGGTGTGGCGGCTCACACCTGTAATCTCAGCACTTCAGGTGGCCGAGACGGGACAATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCCCTACAAGAAATATAAAAATTAGCTGGGCTTGGTAGTACACGCCTGTAATCCCAGCTACTACTTGGGAGGCTGAGGCATGTGAATTGCTTGAACCCAAGAGACATAGGTTGCAGTGAGCCGAGACCGCGCCACTGCACTCCAGCCTGGGCAATGGAGTGAGACTCTGTCTCAGGAAAAAGAAAAATAAATGAAGCATAAGCATTGAAAATGAGGGGTCAGAGTGTCTTTACTTACATTATACTAATGTGAAATTCCCTATGTGAGAGGTGTAGTAATTGAGTTGGGGTGGCTACGTGGAATAGTTTATAAAGGGAATTTGCATGAATTTTGGCAATAAGCAGACCAGCATAAATAAATGGTGCACATTTCACTTTCTTTTCCACTCTTTCCAGAGGCGCAGGAATTGGTGGGCTTGGCATAACTGTTGAGGGACCATCAGAGTCGAAGATAAATTGCAGAGACAACAAGGATGGCAGCTGCAGTGCTGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTAATATCACATATGGAGGAGCCCACATCCCCGGTGAGCTATTCCTCAGAGAGGACCCCAGAGAATAATTGATTTTGCAGGAAAATGGGTTTGATTTTGGTTATCTCTCTGAGTGGGGAAAACAATCTGATATTTGTAATAGCTGCAAAAGGAGAGTTTTTCTTAGGGCTACATCTCCAAGATTATCTCAACTCCCAGTAGAACCGGTAACATGGCAAAAAGCATCGGCTTAGAATTTTGACTGGAAACAGTTGTGCGTGTGTTGGAGGACCTAGTTCTTGATTCAGGGGAAAGCTGGTTCTTTACAAAGTTGAAAATCACAGTGGCTCACACCTGTAATCCCCAAACTTTGGGAGGCCAAGGCATGCAGATTGCTTCAGGTCAGGAGTTTGAGACCAGCCCAGGCAACATGGGGAATCCCCATCTTTACAAGAAATACAAAACTTAGCTGAGTGTGATGGTGCGTGCCTGTAATCCTAGCTATGTGGGGTGGGGGCTGTGATGGGACGATGTCTGAGATGGGAGCCTGGGAGGTTGAGTGAGCTGAGATTGCGCCACTGCGCTCCAGCTTGGGTGACAGAGGAAGACCCTGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAGAAAATTTCTACCTTATTTTGTGCTTGGCTCCTTATTCATGTGTCTTGGTTTCTTTTTTTTCACTGACAATACTAGTAGCTGATCAAGATATGCAGATTCAAATTCTTTCTTTTGTATTTAGTGATGTCATGTGTAATCACTGTGAAACACGGTTTCTCAACTCCGGCACTATGACACTTTGGGCTAGATGATTCTTTGTGGTGTGGGGCTGTCCTGTTCATTGTAGACTTTTGTCAGCATCCCTGCCCTGTACCTGCTAGATGCCCATAGCAGACTTCTCCTTCCCCATTCTTATTTGTGGCAACCAAAAATGTCTCCATATCTTGCCAGATGTCTTAAGGGACAAAATCACTTCAGCCTGAACCACTGCTGTAAAGATTCAAACAATAAATAAATATATGACTTAAGTAGTGAAAGACCCTCCTCCATTTGTTTTGGGGGGAGGACTCTCCATAGGTTCTAGTTATCTACTCAAATGATTGTCACCCCCACACATTTTATTTATTTATTTCAATAGCTTTGGGGTACAAGTCGTTTGTGGTTACATGGATGAATTCTATAGTGGTGAATTCTGAGACCACCTCCCCCGCCCCCATTTCTAAAAGGGCAGGCAAGTGTGTGGTGTGGACAGAAGACCGAGGGCTGGGGCTGTTCTGGGCCACTTATGCCTTGTCTTAGGTGTGGTGTGAAGAGGGCAAAGCCCCACCCCAGGACCCCAGGAGCAGAAAGAGCCTCAGCGGGGTCTTGTTCTTCTTTCTCTGGGTCACGCTGAGAGGGGAAGGGCAGGTTGAGGGGCCCACTGCTGGGTTCTGGGTTAACTCTCAGGCAGCTGGAGTGTCCACTGACCACACGCTTTCCTGATTCCATTCCTGCTTCCCCCTTACCACATGGAAATGTGCACACACACTCACACTCACTCTCTCTCACACTGATCAGAAAGTATTGACATTCAACTCAGACTGATTCTACTCAGATACTCATTTAAGCCTCAAGTCATTTAAAACAACATGTTTCTCCTCAAACTTGTGCTTGCGGCTCATTCAATATAGATTTAAAAAATTCCTATAATCACTAGTCTAGGGGACTTCAGCTGTGGGCAAGACAAAGTTCCTGCCCTCAGGGAGCTTACTGTCTAGGGCTTTTACAACTAAAACTTGTGATGACTGCTATGAAGAATGAGAATGGGGCTCGGTGACAGAATTCAGAGCTACGGGCTTGTTTTGGAGTTTTGTAACACTTGCGTTAGGAGAGAGTTGGGCACAGGAAACGGGTAGAAGGCTGCTCCCAGGAGGGGTGATGTGGCTCCGACCTGGCAGGCAACAGTGGAGATGAACATCTCCTGTGGCAATGAAACTTTTTGACTATGGGGAAAGGCTGGTGAGTGCCACCAGCTTCCGAATCCCCCTTACAGAAAGGGGTCAGAGTTTGTCCCCTGTGGCCGACCTGTGAGCTTAAAGCAAATGGTCGTCTTTGAGCATAACAACAGAAAGACACTCATTTGTGGTTTTCCCATCAGGTGTGGATGGTGCCTTTTTATGTTTCAGGCTCTCTGTT	G	A58122739G	FLNB	NM_001457.4(FLNB):c.3127-354_4223-1836del	noncoding	Pathogenic
3	58123703	TAAA	T	A58123724G	FLNB	NM_001457.4(FLNB):c.3724+34_3724+36del	noncoding	Benign
3	58123703	TAA	T	A58123725G	FLNB	NM_001457.4(FLNB):c.3724+35_3724+36del	noncoding	Benign
3	58132516	T	TAA	C58132518A	FLNB	NM_001457.4(FLNB):c.4391-291_4391-290insAA	noncoding	Benign
3	58132847	G	GCA	G58132858C	FLNB	NM_001457.4(FLNB):c.4439_4440dup:p.Val1481fs	coding	Pathogenic
3	58132885	C	CCTTA	A58132891T	FLNB	NM_001457.4(FLNB):c.4470_4473dup:p.Met1492fs	coding	Pathogenic
3	58134591	GGT	G	G58134606C	FLNB	NM_001457.4(FLNB):c.4515-24GT[7]	noncoding	Benign
3	58134591	GGTGTGTGT	G	G58134600C	FLNB	NM_001457.4(FLNB):c.4515-24GT[4]	noncoding	Benign/Likely_benign
3	58143293	GA	G	A58143305G	FLNB	NM_001457.4(FLNB):c.5285-168del	noncoding	Benign
3	58148076	AT	A	T58148085C	FLNB	NM_001457.4(FLNB):c.5729-121del	noncoding	Benign
3	58154544	CA	C	A58154561G	FLNB	NM_001457.4(FLNB):c.6635-230del	noncoding	Benign
3	58156146	CTT	C	T58156147C	FLNB	NM_001457.4(FLNB):c.6888+72_6888+73del	noncoding	Benign
3	58169642	GGA	G	A58169644T	FLNB	NM_001457.4(FLNB):c.7472_7473del:p.Glu2491fs	coding	Pathogenic
3	58201047	CG	C	G58201048A	DNASE1L3	NM_004944.4(DNASE1L3):c.495del:p.Ile165fs	coding	Pathogenic
3	58205499	ATG	A	G58205503T	DNASE1L3	NM_004944.4(DNASE1L3):c.290_291del:p.Thr97fs	coding	Pathogenic
3	58430811	TC	CT	T58430811C	PDHB	NM_000925.4(PDHB):c.434_435delinsAG:p.Arg145Lys	coding	Benign
3	58431043	T	TTTA	T58431046A	PDHB	NM_000925.4(PDHB):c.304-102_304-101insAAT	noncoding	Benign
3	58526671	AG	A	G58526677T	ACOX2	NM_003500.4(ACOX2):c.1156-16del	noncoding	Benign
3	63912684	GGCA	G	A63912714C	ATXN7	NM_001377405.1(ATXN7):c.89AGC[9]:p.Gln39del	coding	Benign
3	64540975	CCAATGTG	C	G64540994A	ADAMTS9	NM_182920.2(ADAMTS9):c.5521+99CACATTG[2]	noncoding	Benign
3	64594451	GA	G	A64594453G	ADAMTS9	NM_182920.2(ADAMTS9):c.4180-18del	noncoding	Benign
3	64621254	GA	G	A64621262T	ADAMTS9	NM_182920.2(ADAMTS9):c.2687-15del	noncoding	Benign
3	64650867	C	CT	G64650885T	ADAMTS9	NM_182920.2(ADAMTS9):c.1463+133dup	noncoding	Benign
3	64650867	CT	C	T64650884G	ADAMTS9	NM_182920.2(ADAMTS9):c.1463+149del	noncoding	Benign
3	64654530	TA	T	A64654534C	ADAMTS9	NM_182920.2(ADAMTS9):c.1210+41del	noncoding	Benign
3	66346715	C	CGT	T66346762G	SLC25A26	NM_001379210.1(SLC25A26):c.498+308GT[24]	noncoding	Benign
3	66346715	CGT	C	G66346760T	SLC25A26	NM_001379210.1(SLC25A26):c.498+308GT[22]	noncoding	Benign
3	66363082	GA	G	A66363097C	SLC25A26	NM_001379210.1(SLC25A26):c.568+168del	noncoding	Benign
3	66363082	G	GA	C66363098A	SLC25A26	NM_001379210.1(SLC25A26):c.568+168dup	noncoding	Benign
3	66369369	CCAGGTGTA	C	G66369372T	SLC25A26	NM_001379210.1(SLC25A26):c.569-106_569-99del	noncoding	Benign
3	67508792	C	CT	A67508805T	SUCLG2	NM_003848.4(SUCLG2):c.757+14dup	noncoding	Benign
3	68978681	CT	C	T68978682G	EOGT	NM_001278689.2(EOGT):c.1335-247del	noncoding	Benign
3	68978684	CTGCCT	C	T68978685A	EOGT	NM_001278689.2(EOGT):c.1335-254_1335-250del	noncoding	Benign
3	68987373	GA	G	A68987386C	EOGT	NM_001278689.2(EOGT):c.1152+71del	noncoding	Benign
3	68987373	G	GA	C68987387A	EOGT	NM_001278689.2(EOGT):c.1152+59dup	noncoding	Benign
3	69005061	CA	C	A69005078T	EOGT	NM_001278689.2(EOGT):c.515+78del	noncoding	Benign
3	69005115	A	AT	G69005117T	EOGT	NM_001278689.2(EOGT):c.515+24dup	noncoding	Benign
3	69009946	AAAAC	A	C69009950G	EOGT	NM_001278689.2(EOGT):c.-14-90_-14-87del	noncoding	Benign
3	69109351	TA	T	A69109353C	LMOD3	NM_198271.5(LMOD3):c.1657-231del	noncoding	Benign
3	69118882	C	CT	C69118885T	LMOD3	NM_198271.5(LMOD3):c.1472dup:p.Arg492fs	coding	Pathogenic
3	69119162	CT	C	T69119165G	LMOD3	NM_198271.5(LMOD3):c.1192del:p.Arg398fs	coding	Pathogenic
3	69119331	CAGTT	C	T69119334C	LMOD3	NM_198271.5(LMOD3):c.1020_1023del:p.Thr341fs	coding	Pathogenic
3	69119383	AC	A	C69119385T	LMOD3	NM_198271.5(LMOD3):c.971del:p.Gly324fs	coding	Pathogenic
3	69119621	AAGCTCCCATCC	A	C69119624G	LMOD3	NM_198271.5(LMOD3):c.723_733del:p.Asp242fs	coding	Pathogenic
3	69120233	TTAAAA	T	A69120235G	LMOD3	NM_198271.5(LMOD3):c.295-178_295-174del	noncoding	Benign
3	69122232	AT	A	T69122234C	LMOD3	NM_198271.5(LMOD3):c.154del:p.Gly51_Met52insTer	coding	Pathogenic
3	69122291	CAGTTCTTCAGCAGACA	C	C69122296G	LMOD3	NM_198271.5(LMOD3):c.80_95del:p.Asn26_Leu27insTer	coding	Pathogenic
3	69122513	AT	A	T69122526C	LMOD3	NM_198271.5(LMOD3):c.-128del	noncoding	Benign
3	69936947	C	CT	G69936966T	MITF	NM_001354604.2(MITF):c.355-857dup	noncoding	Benign
3	69939158	C	CA	T69939160A	MITF	NM_001354604.2(MITF):c.644dup:p.His215fs	coding	Pathogenic
3	69951576	G	GT	A69951586T	MITF	NM_001354604.2(MITF):c.881-227dup	noncoding	Benign
3	69956464	GA	G	A69956466G	MITF	NM_001354604.2(MITF):c.967del:p.Arg323fs	coding	Pathogenic
3	69956467	GAAGAT	G	A69956468T	MITF	NM_001354604.2(MITF):c.969_973del:p.Arg323fs	coding	Pathogenic
3	69964323	GTGAGAGACCATCTCTATTTTTCATACATAATCAAATCTATAAAACACCTAAAAATTTATTTCACATACTGCCAGTGGTACTTCTCCTATACTTTAGAACATACAGAGCTCATTAATTTAAAAGAACAAAAAACTTTTATTTTGAGGATTTATTGTTTTCCAAGTATCTGATTTTTAAAAATAGACTTTATTTTTCAGGACAGTTTTTGGTTCACAGTAAAATTGAAATGAAGCTGCAGATATTTCCCATACACCTCATTCCCCCAAGCACGCACAGCCTTCCCCATTATCAACATTCCCTACCAGAGTGGCACATTTATTAGAATCAATGAACCCGCAGTGACATTTCATTATCCTCCAAAGTCTATACTTTACATTCCCTCTGGTATTGTACATTTTGTGGGTTTGGCCAAA	G	A69964326T	MITF	NM_001354604.2(MITF):c.1180-521_1180-109del	noncoding	Benign
3	69964957	C	CT	G69964959T	MITF	NM_001354604.2(MITF):c.1291dup:p.Cys431fs	coding	Pathogenic
3	69965043	AC	A	C69965044A	MITF	NM_001354604.2(MITF):c.1377del:p.Asn459fs	coding	Pathogenic
3	70959262	GT	G	T70959265A	FOXP1	NM_001349338.3(FOXP1):c.2018del:p.Asn673fs	coding	Pathogenic
3	70970727	TAATCTTACCTGTA	T	T70970730G	FOXP1	NM_001349338.3(FOXP1):c.1718_1722+8del	noncoding	Pathogenic
3	70970788	TTAATAAGGGAAGGGTTA	T	T70970789C	FOXP1	NM_001349338.3(FOXP1):c.1653_1669del:p.Asn552fs	coding	Pathogenic
3	70977851	TTGTC	T	T70977854A	FOXP1	NM_001349338.3(FOXP1):c.1321_1324del:p.Asp441fs	coding	Pathogenic
3	70977911	GA	G	A70977912G	FOXP1	NM_001349338.3(FOXP1):c.1264del:p.Ser422fs	coding	Pathogenic
3	71000794	A	AAAAATAAAATAAAAT	G71000848A	FOXP1	NM_001349338.3(FOXP1):c.1062+128ATTTT[13]	noncoding	Benign
3	71000794	A	AAAAATAAAAT	G71000848A	FOXP1	NM_001349338.3(FOXP1):c.1062+128ATTTT[12]	noncoding	Benign
3	71000794	A	AAAAAT	G71000848A	FOXP1	NM_001349338.3(FOXP1):c.1062+128ATTTT[11]	noncoding	Benign
3	71001002	T	TA	T71001003A	FOXP1	NM_001349338.3(FOXP1):c.1031_1032insT:p.Gln344fs	coding	Pathogenic
3	71015721	T	TA	G71015728A	FOXP1	NM_001349338.3(FOXP1):c.870-74dup	noncoding	Benign
3	71041371	AG	A	G71041373C	FOXP1	NM_001349338.3(FOXP1):c.825del:p.Ser276fs	coding	Pathogenic
3	71041458	TG	T	G71041459C	FOXP1	NM_001349338.3(FOXP1):c.738del:p.Asn247fs	coding	Pathogenic
3	71052552	TC	T	C71052554A	FOXP1	NM_001349338.3(FOXP1):c.494del:p.Gly165fs	coding	Pathogenic
3	71052558	AT	A	T71052559G	FOXP1	NM_001349338.3(FOXP1):c.488del:p.His163fs	coding	Pathogenic
3	71052599	G	GT	A71052606T	FOXP1	NM_001349338.3(FOXP1):c.447dup:p.Gln150fs	coding	Pathogenic
3	71772559	TA	T	A71772574T	PROK2	NM_001126128.2(PROK2):c.*164del	noncoding	Benign
3	71772559	T	TA	T71772575A	PROK2	NM_001126128.2(PROK2):c.*164dup	noncoding	Benign
3	71781576	GAGTCCTTGTCACA	G	T71781579C	PROK2	NM_001126128.2(PROK2):c.100_112del:p.Cys34fs	coding	Pathogenic
3	72817280	TATCA	T	T72817286A	SHQ1	NM_018130.3(SHQ1):c.828_831del:p.Asp277fs	coding	Pathogenic
3	77588501	C	CA	T77588502A	ROBO2	NM_001395656.1(ROBO2):c.2513-250_2513-249insA	noncoding	Benign
3	77589221	AAC	A	C77589239T	ROBO2	NM_001395656.1(ROBO2):c.2695+289AC[8]	noncoding	Benign
3	77617230	AGTTT	A	T77617234G	ROBO2	NM_001395656.1(ROBO2):c.3306-279_3306-276del	noncoding	Benign
3	78639904	T	TA	T78639915A	ROBO1	NM_002941.4(ROBO1):c.2883-7dup	noncoding	Benign
3	78651912	CAG	C	A78651913G	ROBO1	NM_002941.4(ROBO1):c.2630_2631del:p.Pro877fs	coding	Pathogenic
3	78685726	TA	T	A78685730T	ROBO1	NM_002941.4(ROBO1):c.1342+19del	noncoding	Benign
3	81493834	GT	G	T81493845A	GBE1	NM_000158.4(GBE1):c.2053-3372del	noncoding	Benign
3	81499058	T	TAAG	T81499061G	GBE1	NM_000158.4(GBE1):c.2052+51_2052+52insTTC	noncoding	Benign
3	81499199	CTG	C	T81499200C	GBE1	NM_000158.4(GBE1):c.1961_1962del:p.Ala654fs	coding	Pathogenic
3	81535117	CT	C	T81535131G	GBE1	NM_000158.4(GBE1):c.1934+77del	noncoding	Benign
3	81535253	T	TGAAAATGAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A81535269G	GBE1	NM_000158.4(GBE1):c.1861_1875CTT[2]TTCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTCATTTTC[1]:p.Asn626delinsPhePhePhePhePhePheXaaXaaXaaXaaCysTer	coding	Pathogenic
3	81537037	A	ACT	A81537043T	GBE1	NM_000158.4(GBE1):c.1675_1676dup:p.Ser559fs	coding	Pathogenic
3	81578126	G	GA	G81578137A	GBE1	NM_000158.4(GBE1):c.1447-40dup	noncoding	Benign
3	81581207	GC	G	C81581208G	GBE1	NM_000158.4(GBE1):c.1403del:p.Arg468fs	coding	Pathogenic
3	81581266	CTT	C	T81581268A	GBE1	NM_000158.4(GBE1):c.1343_1344del:p.Lys448fs	coding	Pathogenic
3	81591169	GA	G	A81591174G	GBE1	NM_000158.4(GBE1):c.1109-6del	noncoding	Benign
3	81642507	TA	T	A81642516T	GBE1	NM_000158.4(GBE1):c.992+273del	noncoding	Benign
3	81642860	CATCA	C	T81642862A	GBE1	NM_000158.4(GBE1):c.909_912del:p.Phe303fs	coding	Pathogenic
3	81642962	CT	AA	C81642962A	GBE1	NM_000158.4(GBE1):c.810_811delinsTT:p.Gln270_Glu271delinsHisTer	coding	Pathogenic
3	81643232	TCA	T	C81643235T	GBE1	NM_000158.4(GBE1):c.783-244_783-243del	noncoding	Benign
3	81649512	T	TA	C81649523A	GBE1	NM_000158.4(GBE1):c.555+274dup	noncoding	Benign
3	81649781	AT	A	T81649784G	GBE1	NM_000158.4(GBE1):c.555+14del	noncoding	Benign/Likely_benign
3	81649845	TC	T	C81649846A	GBE1	NM_000158.4(GBE1):c.505del:p.Asp169fs	coding	Pathogenic
3	81649880	AATACG	A	G81649885A	GBE1	NM_000158.4(GBE1):c.466_470del:p.Arg156fs	coding	Pathogenic
3	81670949	AC	A	C81670951A	GBE1	NM_000158.4(GBE1):c.317del:p.Gly106fs	coding	Pathogenic
3	81705540	AG	A	G81705541C	GBE1	NM_000158.4(GBE1):c.216del:p.Tyr73fs	coding	Pathogenic
3	81705607	CT	C	T81705609A	GBE1	NM_000158.4(GBE1):c.149del:p.Lys50fs	coding	Pathogenic
3	81761470	CG	C	G81761471C	GBE1	NM_000158.4(GBE1):c.47del:p.Ala16fs	coding	Pathogenic
3	81761551	A	AG	T81761554G	GBE1	NM_000158.4(GBE1):c.-35dup	noncoding	Benign
3	87246145	CT	C	T87246155G	CHMP2B	NM_014043.4(CHMP2B):c.321+247del	noncoding	Benign
3	87249572	AT	A	T87249576A	CHMP2B	NM_014043.4(CHMP2B):c.322-299del	noncoding	Benign
3	93877070	GGT	G	G93877073C	PROS1	NM_000313.4(PROS1):c.1764_1765del:p.Pro589fs	coding	Pathogenic
3	93898503	C	CA	G93898506A	PROS1	NM_000313.4(PROS1):c.793dup:p.Cys265fs	coding	Pathogenic
3	93973670	TCA	T	C93973673G	PROS1	NM_000313.4(PROS1):c.76+2_76+3del	noncoding	Pathogenic
3	93980726	A	AGT	G93980762T	ARL13B	NM_001174150.2(ARL13B):c.59+245GT[18]	noncoding	Benign
3	93980726	AGT	A	T93980760G	ARL13B	NM_001174150.2(ARL13B):c.59+245GT[16]	noncoding	Benign
3	93980726	AGTGT	A	T93980758G	ARL13B	NM_001174150.2(ARL13B):c.59+245GT[15]	noncoding	Benign
3	94035389	C	CT	A94035391T	ARL13B	NM_001174150.2(ARL13B):c.440dup:p.Ser148fs	coding	Pathogenic
3	94043141	C	CA	T94043149A	ARL13B	NM_001174150.2(ARL13B):c.932dup:p.Asn311fs	coding	Pathogenic
3	94043199	T	TA	G94043203A	ARL13B	NM_001174150.2(ARL13B):c.986dup:p.Asn330fs	coding	Pathogenic
3	97785323	A	ATAAT	T97785325A	ARL6	NM_001278293.3(ARL6):c.349+275_349+276insAATT	noncoding	Benign
3	97785335	CA	C	A97785351T	ARL6	NM_001278293.3(ARL6):c.349+302del	noncoding	Benign
3	98581415	T	TA	G98581417A	CPOX	NM_000097.7(CPOX):c.1268dup:p.Thr424fs	coding	Pathogenic
3	98591046	CATTTG	C	A98591047T	CPOX	NM_000097.7(CPOX):c.661_665del:p.Gln221fs	coding	Pathogenic
3	98591073	AT	A	T98591076C	CPOX	NM_000097.7(CPOX):c.638del:p.Asn213fs	coding	Pathogenic
3	98593352	AG	A	G98593357C	CPOX	NM_000097.7(CPOX):c.152del:p.Pro51fs	coding	Pathogenic
3	98593353	G	GGGGGCCGGCAGAC	C98593368G	CPOX	NM_000097.7(CPOX):c.139_151dup:p.Pro51fs	coding	Pathogenic
3	98593421	G	GGACCA	G98593428A	CPOX	NM_000097.7(CPOX):c.79_83dup:p.Gln29fs	coding	Pathogenic
3	98593472	GC	G	C98593475G	CPOX	NM_000097.7(CPOX):c.32del:p.Gly11fs	coding	Pathogenic
3	100295114	TC	T	C100295116A	TBC1D23	NM_001199198.3(TBC1D23):c.630del:p.Thr211fs	coding	Pathogenic
3	100296405	AT	A	T100296416C	TBC1D23	NM_001199198.3(TBC1D23):c.876+141del	noncoding	Benign
3	100297695	G	GT	C100297706T	TBC1D23	NM_001199198.3(TBC1D23):c.877-218dup	noncoding	Benign
3	100306766	GC	G	C100306767T	TBC1D23	NM_001199198.3(TBC1D23):c.1413+224del	noncoding	Benign
3	100311783	C	CA	T100311785A	TBC1D23	NM_001199198.3(TBC1D23):c.1554-49dup	noncoding	Benign
3	100451757	T	TGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA	C100451758G	LNP1	NM_001085451.2(LNP1):c.195_196insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA:p.Pro66delinsGlyIleProMetProIleValTer	coding	Benign
3	100709467	AT	A	T100709478C	TFG	NM_006070.5(TFG):c.-287delT	noncoding	Benign
3	100713570	CATCTA	C	C100713573A	TFG	NM_006070.6(TFG):c.-43-70_-43-66del	noncoding	Benign
3	100713902	C	CCT	T100713903C	TFG	NM_006070.6(TFG):c.184+33_184+34insCT	noncoding	Benign
3	100713907	TA	T	A100713924G	TFG	NM_006070.6(TFG):c.184+55del	noncoding	Benign
3	100719953	C	CT	A100719966T	TFG	NM_006070.6(TFG):c.185-10dup	noncoding	Benign
3	100719953	CT	C	T100719965A	TFG	NM_006070.6(TFG):c.185-10del	noncoding	Benign
3	100728526	C	CT	C100728534T	TFG	NM_006070.6(TFG):c.269-179dup	noncoding	Benign
3	100744807	T	TTG	T100744827G	TFG	NM_006070.6(TFG):c.722-25TG[10]	noncoding	Benign
3	100744807	T	TTGTG	T100744827G	TFG	NM_006070.6(TFG):c.722-25TG[11]	noncoding	Benign
3	100745179	GTT	G	T100745183A	TFG	NM_006070.6(TFG):c.820+252_820+253del	noncoding	Benign
3	101229564	AG	A	G101229566C	IMPG2	NM_016247.4(IMPG2):c.3448del:p.Leu1150fs	coding	Pathogenic
3	101230970	CTCTT	C	T101230973A	IMPG2	NM_016247.4(IMPG2):c.3405_3408del:p.Glu1137fs	coding	Pathogenic
3	101232853	CAG	C	G101232857C	IMPG2	NM_016247.4(IMPG2):c.3159_3160del:p.Leu1053_Cys1054insTer	coding	Pathogenic
3	101232916	T	TCTCCA	G101232927C	IMPG2	NM_016247.4(IMPG2):c.3093_3097dup:p.Glu1033fs	coding	Pathogenic
3	101242706	AG	GT	A101242706G	IMPG2	NM_016247.4(IMPG2):c.3003_3004delinsAC:p.Tyr1001_Ser1002delinsTer	coding	Pathogenic/Likely_pathogenic
3	101243917	GCA	G	A101243919T	IMPG2	NM_016247.4(IMPG2):c.2412_2413del:p.Ser804_Ala805insTer	coding	Pathogenic
3	101244061	T	TC	A101244063C	IMPG2	NM_016247.4(IMPG2):c.2269dup:p.Glu757fs	coding	Pathogenic
3	101244097	TC	T	C101244100T	IMPG2	NM_016247.4(IMPG2):c.2233del:p.Glu745fs	coding	Pathogenic
3	101244292	TC	T	C101244293T	IMPG2	NM_016247.4(IMPG2):c.2038del:p.Glu680fs	coding	Pathogenic
3	101246107	TG	T	G101246113A	IMPG2	NM_016247.4(IMPG2):c.1240-3del	noncoding	Benign
3	101246113	GA	G	A101246120G	IMPG2	NM_016247.4(IMPG2):c.1240-9del	noncoding	Benign
3	101246113	G	GA	G101246121A	IMPG2	NM_016247.4(IMPG2):c.1240-9dup	noncoding	Benign
3	101253685	TA	T	A101253690C	IMPG2	NM_016247.4(IMPG2):c.1239+10del	noncoding	Benign
3	101257581	C	CA	T101257588A	IMPG2	NM_016247.4(IMPG2):c.1100dup:p.Leu367fs	coding	Pathogenic
3	101273560	GT	G	T101273570A	IMPG2	NM_016247.4(IMPG2):c.828+20del	noncoding	Benign
3	101273563	T	TG	T101273564G	IMPG2	NM_016247.4(IMPG2):c.828+17_828+18insC	noncoding	Benign
3	101319662	G	GA	C101319666A	IMPG2	NM_016247.4(IMPG2):c.255dup:p.Pro86fs	coding	Pathogenic
3	101320304	G	GT	C101320306T	IMPG2	NM_016247.4(IMPG2):c.68dup:p.Asp23fs	coding	Pathogenic
3	101727363	AAT	A	A101727366G	CEP97	NM_024548.4(CEP97):c.187-17_187-16del	noncoding	Benign
3	108222077	AGGCACCCGGGCGCTCGGGGACGCC	A	G108222085A	IFT57	NM_018010.4(IFT57):c.212+10_212+33del	noncoding	Benign
3	111111899	ATGTGTG	A	G111111929A	NECTIN3	NM_015480.3(NECTIN3):c.161-130TG[14]	noncoding	Benign
3	111111899	ATGTGTGTG	A	G111111927A	NECTIN3	NM_015480.3(NECTIN3):c.161-130TG[13]	noncoding	Benign
3	111111899	ATGTGTGTGTG	A	G111111925A	NECTIN3	NM_015480.3(NECTIN3):c.161-130TG[12]	noncoding	Benign
3	111192236	AG	A	G111192237T	NECTIN3	NM_001243288.2(NECTIN3):c.1222-114del	noncoding	Benign
3	113657263	TTGCTGC	T	G113657295T	USF3	NM_001009899.4(USF3):c.4383GCA[10]:p.Gln1477_Gln1478del	coding	Pathogenic
3	113657263	T	TTGC	T113657301G	USF3	NM_001009899.4(USF3):c.4383GCA[13]:p.Gln1478_Ala1479insGln	coding	Pathogenic
3	113657263	T	TTGCTGC	T113657301G	USF3	NM_001009899.4(USF3):c.4383GCA[14]:p.Gln1478_Ala1479insGlnGln	coding	Benign
3	113657263	T	TTGCTGCTGC	T113657301G	USF3	NM_001009899.4(USF3):c.4383GCA[15]:p.Gln1478_Ala1479insGlnGlnGln	coding	Pathogenic
3	113658634	G	GT	A113658646T	USF3	NM_001009899.4(USF3):c.3047dup:p.Asn1016fs	coding	Pathogenic
3	113658634	GT	G	T113658645A	USF3	NM_001009899.4(USF3):c.3047del:p.Asn1016fs	coding	Pathogenic
3	113789652	T	TA	G113789664A	ATP6V1A	NM_001690.4(ATP6V1A):c.880-69dup	noncoding	Benign
3	113795838	CA	C	A113795839T	ATP6V1A	NM_001690.4(ATP6V1A):c.1227-37del	noncoding	Benign
3	113798228	G	GT	A113798237T	ATP6V1A	NM_001690.4(ATP6V1A):c.1291-7dup	noncoding	Benign
3	119295020	CT	C	T119295023C	ARHGAP31	NM_020754.4(ARHGAP31):c.100+19del	noncoding	Benign
3	119295140	CT	C	T119295152A	ARHGAP31	NM_020754.4(ARHGAP31):c.100+148del	noncoding	Benign
3	119381985	CAAAA	C	A119382005G	ARHGAP31	NM_020754.4(ARHGAP31):c.432-287_432-284del	noncoding	Benign
3	119381985	CA	C	A119382008G	ARHGAP31	NM_020754.4(ARHGAP31):c.432-284del	noncoding	Benign
3	119383038	T	TTG	A119383042G	ARHGAP31	NM_020754.4(ARHGAP31):c.540-44_540-43dup	noncoding	Benign
3	119409864	AT	A	T119409873G	ARHGAP31	NM_020754.4(ARHGAP31):c.1926+97del	noncoding	Benign
3	119485216	CA	C	A119485228G	POGLUT1	NM_152305.3(POGLUT1):c.579-100del	noncoding	Benign
3	119485216	C	CA	G119485229A	POGLUT1	NM_152305.3(POGLUT1):c.579-100dup	noncoding	Benign
3	119492057	A	AAAATAAATAAAT	G119492085T	POGLUT1	NM_152305.3(POGLUT1):c.1023-224AAAT[9]	noncoding	Benign
3	119492057	A	AAAATAAAT	G119492085T	POGLUT1	NM_152305.3(POGLUT1):c.1023-224AAAT[8]	noncoding	Benign
3	119492057	A	AAAAT	G119492085T	POGLUT1	NM_152305.3(POGLUT1):c.1023-224AAAT[7]	noncoding	Benign
3	120628429	AG	A	G120628430T	HGD	NM_000187.4(HGD):c.1288del:p.Leu430fs	coding	Pathogenic
3	120628472	AG	A	G120628474C	HGD	NM_000187.4(HGD):c.1245del:p.Ser416fs	coding	Pathogenic
3	120633149	TG	T	G120633151T	HGD	NM_000187.4(HGD):c.1185del:p.Met396fs	coding	Pathogenic
3	120633223	TG	T	G120633229T	HGD	NM_000187.4(HGD):c.1111del:p.His371fs	coding	Pathogenic
3	120633303	TC	T	C120633306A	HGD	NM_000187.4(HGD):c.1031del:p.Gly344fs	coding	Pathogenic
3	120633315	AC	A	C120633316T	HGD	NM_000187.4(HGD):c.1019del:p.Ser340fs	coding	Pathogenic
3	120638490	A	AC	A120638497C	HGD	NM_000187.4(HGD):c.970dup:p.Val324fs	coding	Pathogenic/Likely_pathogenic
3	120644440	GC	G	C120644444T	HGD	NM_000187.3(HGD):c.652delG	coding	Pathogenic/Likely_pathogenic
3	120652655	GA	G	A120652663T	HGD	NM_000187.4(HGD):c.283-5del	noncoding	Benign
3	120652655	G	GA	T120652664A	HGD	NM_000187.4(HGD):c.283-12dup	noncoding	Benign
3	121489856	CTTT	C	T121489860G	POLQ	NM_199420.4(POLQ):c.3072_3074del:p.Lys1025del	coding	Benign
3	121632468	G	GGGCTCAGGCTCA	T121632486A	HCLS1	NM_005335.6(HCLS1):c.1092TGAGCC[4]:p.364PE[8]	coding	Benign
3	121772960	CTG	C	T121772963G	IQCB1	NM_001023570.4(IQCB1):c.1411-249_1411-248del	noncoding	Benign
3	121781632	TACACACACACACAC	T	C121781650A	IQCB1	NM_001023570.4(IQCB1):c.1410+81GT[8]	noncoding	Benign
3	121781632	TACAC	T	C121781660A	IQCB1	NM_001023570.4(IQCB1):c.1410+81GT[13]	noncoding	Benign
3	121781632	TAC	T	C121781662A	IQCB1	NM_001023570.4(IQCB1):c.1410+81GT[14]	noncoding	Benign
3	121781632	T	TAC	A121781664C	IQCB1	NM_001023570.4(IQCB1):c.1410+81GT[16]	noncoding	Benign
3	121781632	T	TACACAC	A121781664C	IQCB1	NM_001023570.4(IQCB1):c.1410+81GT[18]	noncoding	Benign
3	121781881	GA	G	A121781889T	IQCB1	NM_001023570.4(IQCB1):c.1279-8del	noncoding	Benign
3	121788524	CTTTTTA	C	A121788530G	IQCB1	NM_001023570.4(IQCB1):c.1130-98_1130-93del	noncoding	Benign
3	121795611	TAA	T	A121795624G	IQCB1	NM_001023570.4(IQCB1):c.877-47_877-46del	noncoding	Benign
3	121795611	TA	T	A121795625G	IQCB1	NM_001023570.4(IQCB1):c.877-46del	noncoding	Benign
3	121795611	T	TA	G121795626A	IQCB1	NM_001023570.4(IQCB1):c.877-59dup	noncoding	Benign
3	121797093	A	AT	G121797106T	IQCB1	NM_001023570.4(IQCB1):c.876+13dup	noncoding	Benign
3	121797452	TAAA	T	A121797463T	IQCB1	NM_001023570.4(IQCB1):c.767-228_767-226del	noncoding	Benign
3	121797452	TAA	T	A121797464T	IQCB1	NM_001023570.4(IQCB1):c.767-227_767-226del	noncoding	Benign
3	121797452	T	TA	T121797466A	IQCB1	NM_001023570.4(IQCB1):c.767-238dup	noncoding	Benign
3	121797488	TA	T	A121797503G	IQCB1	NM_001023570.4(IQCB1):c.767-262del	noncoding	Benign
3	121799204	CA	C	A121799205G	IQCB1	NM_001023570.4(IQCB1):c.757del:p.Cys253fs	coding	Pathogenic
3	121799207	GTACTTTGTCTCAGTAAAATCAAAATT	G	A121799209C	IQCB1	NM_001023570.4(IQCB1):c.729_754del:p.Glu243fs	coding	Pathogenic
3	121799389	TA	T	A121799399G	IQCB1	NM_001023570.4(IQCB1):c.588-16del	noncoding	Benign
3	121799389	T	TA	G121799400A	IQCB1	NM_001023570.4(IQCB1):c.588-25dup	noncoding	Benign
3	121807305	TA	T	A121807314G	IQCB1	NM_001023570.4(IQCB1):c.587+38del	noncoding	Benign
3	121807440	AG	A	G121807441T	IQCB1	NM_001023570.4(IQCB1):c.490del:p.Leu164fs	coding	Pathogenic
3	121807455	GA	G	A121807464G	IQCB1	NM_001023570.4(IQCB1):c.488-13del	noncoding	Benign
3	121809056	C	CT	A121809071T	IQCB1	NM_001023570.4(IQCB1):c.394-61dup	noncoding	Benign
3	121809056	CT	C	T121809070A	IQCB1	NM_001023570.4(IQCB1):c.394-48del	noncoding	Benign
3	121826170	C	CA	C121826172A	IQCB1	NM_001023570.4(IQCB1):c.273dup:p.Val92fs	coding	Pathogenic
3	121994214	GA	G	A121994217C	ILDR1	NM_001199799.2(ILDR1):c.745del:p.Ser249fs	coding	Pathogenic/Likely_pathogenic
3	122001667	GT	G	T122001682C	ILDR1	NM_001199799.2(ILDR1):c.499+77del	noncoding	Benign
3	122005328	CT	C	T122005330C	ILDR1	NM_001199799.2(ILDR1):c.294del:p.Val99fs	coding	Pathogenic
3	122022270	T	TC	A122022275C	ILDR1	Single_allele	noncoding	Benign
3	122254301	T	TC	T122254302C	CASR	NM_000388.4(CASR):c.112_113insC:p.Phe38fs	coding	Pathogenic
3	122254353	CG	C	G122254355A	CASR	NM_000388.4(CASR):c.166del:p.Glu56fs	coding	Pathogenic/Likely_pathogenic
3	122257249	CAA	C	A122257252T	CASR	NM_000388.4(CASR):c.357_358del:p.Lys119fs	coding	Pathogenic
3	122261392	GTA	G	T122261395C	CASR	NM_000388.4(CASR):c.493-133_493-132del	noncoding	Benign
3	122261562	AC	A	C122261563A	CASR	NM_000388.4(CASR):c.528del:p.Asn176fs	coding	Pathogenic
3	122261580	CTT	C	T122261582C	CASR	NM_000388.4(CASR):c.547_548del:p.Phe183fs	coding	Pathogenic
3	122261697	CG	C	G122261701A	CASR	NM_000388.4(CASR):c.666del:p.Ile223fs	coding	Pathogenic/Likely_pathogenic
3	122261937	GC	G	C122261938T	CASR	NM_000388.4(CASR):c.903del:p.Ser302fs	coding	Pathogenic
3	122261957	C	CCT	A122261961T	CASR	NM_000388.4(CASR):c.924_925dup:p.Gln309fs	coding	Pathogenic
3	122261994	TCG	T	G122261996T	CASR	NM_000388.4(CASR):c.961_962del:p.Ala321fs	coding	Pathogenic
3	122262085	GT	G	T122262089G	CASR	NM_000388.4(CASR):c.1054del:p.Trp352fs	coding	Pathogenic
3	122275817	G	GAAGC	C122275823A	CASR	NM_000388.4(CASR):c.1385_1388dup:p.His463fs	coding	Pathogenic
3	122275987	GAGAA	G	A122275991C	CASR	NM_000388.4(CASR):c.1557_1560del:p.Glu519fs	coding	Pathogenic
3	122283712	A	AG	A122283714G	CASR	NM_000388.4(CASR):c.1759dup:p.Asp587fs	coding	Pathogenic
3	122283726	CCA	C	C122283727A	CASR	NM_000388.4(CASR):c.1773_1774del:p.Ser591_Asn592insTer	coding	Pathogenic
3	122283735	AC	A	C122283737A	CASR	NM_000388.4(CASR):c.1783del:p.His595fs	coding	Pathogenic
3	122283754	CA	C	A122283756G	CASR	NM_000388.4(CASR):c.1802del:p.Lys601fs	coding	Pathogenic
3	122283803	AC	A	C122283806T	CASR	NM_000388.4(CASR):c.1852del:p.Leu618fs	coding	Pathogenic
3	122283819	TG	T	G122283822C	CASR	NM_000388.4(CASR):c.1868del:p.Gly623fs	coding	Pathogenic
3	122283961	CGG	C	G122283964A	CASR	NM_000388.4(CASR):c.2010_2011del:p.Glu671fs	coding	Pathogenic
3	122283983	TG	T	G122283984C	CASR	NM_000388.4(CASR):c.2030del:p.Cys677fs	coding	Pathogenic
3	122284101	G	GC	A122284103C	CASR	NM_000388.4(CASR):c.2148dup:p.Lys717fs	coding	Pathogenic
3	122284206	AC	A	C122284208G	CASR	NM_000388.4(CASR):c.2254del:p.Arg752fs	coding	Pathogenic
3	122284249	C	CCA	G122284253A	CASR	NM_000388.4(CASR):c.2297_2298dup:p.Glu767fs	coding	Pathogenic
3	122284334	TC	T	C122284337G	CASR	NM_000388.4(CASR):c.2383del:p.Arg795fs	coding	Pathogenic
3	122284368	AG	A	G122284369T	CASR	NM_000388.4(CASR):c.2415del:p.Lys805fs	coding	Pathogenic
3	122284485	CCAGCTTTGGCTTG	C	A122284487T	CASR	NM_000388.4(CASR):c.2533_2545del:p.Ser845fs	coding	Pathogenic
3	122284854	TC	T	C122284855T	CASR	NM_000388.4(CASR):c.2901del:p.Phe968fs	coding	Pathogenic
3	123303465	TA	T	A123303468C	ADCY5	NM_183357.3(ADCY5):c.2560-247del	noncoding	Benign
3	123303893	G	GAAGAA	G123303900A	ADCY5	NM_183357.3(ADCY5):c.2559+169_2559+173dup	noncoding	Benign
3	123303893	G	GAAGAGAAGAA	A123303898G	ADCY5	NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTC	noncoding	Benign
3	123303893	G	GAAGAGAAGAGAAGAA	A123303898G	ADCY5	NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTCTCTTC	noncoding	Benign
3	123303893	G	GAAGAGAAGAGAAGAGAAGAA	A123303898G	ADCY5	NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTCTCTTCTCTTC	noncoding	Benign
3	123317750	C	CA	G123317767A	ADCY5	NM_183357.3(ADCY5):c.2354+254dup	noncoding	Benign
3	123325321	CCATCCGCTT	C	C123325326T	ADCY5	NM_183357.3(ADCY5):c.2080_2088del:p.Lys694_Met696del	noncoding	Pathogenic
3	123325489	G	GA	G123325491A	ADCY5	NM_183357.3(ADCY5):c.1948-28dup	noncoding	Benign
3	123347708	A	AAAGG	T123347716G	ADCY5	NM_183357.3(ADCY5):c.1406+70_1406+73dup	noncoding	Benign
3	123347762	TC	T	C123347767A	ADCY5	NM_183357.3(ADCY5):c.1406+19del	noncoding	Benign
3	123448367	G	GC	G123448375C	ADCY5	NM_183357.3(ADCY5):c.178dup:p.Ala60fs	coding	Pathogenic
3	123448545	T	TC	T123448553C	ADCY5	NM_183357.3(ADCY5):c.-1dup:p.Met1fs	coding	Pathogenic
3	123626886	TG	T	G123626888T	MYLK	NM_053025.4(MYLK):c.5169del:p.Lys1724fs	coding	Pathogenic
3	123647420	AT	A	T123647423C	MYLK	NM_053025.4(MYLK):c.4422del:p.Lys1474fs	coding	Pathogenic
3	123657299	TC	T	C123657302A	MYLK	NM_053025.4(MYLK):c.4114del:p.Asp1372fs	coding	Pathogenic
3	123657319	GGA	G	G123657320C	MYLK	NM_053025.4(MYLK):c.4093_4094del:p.Ser1365fs	coding	Pathogenic
3	123666297	TGC	T	C123666301T	MYLK	NM_053025.4(MYLK):c.3751_3752del:p.Ala1251fs	coding	Pathogenic
3	124744139	CT	C	T124744140C	UMPS	NM_000373.4(UMPS):c.*56del	noncoding	Benign/Likely_benign
3	125232327	CT	C	T125232342A	ZNF148	NM_021964.3(ZNF148):c.*13del:p.Ter795=	noncoding	Benign
3	125233526	ACTTCT	A	C125233530A	ZNF148	NM_021964.3(ZNF148):c.1195_1199del:p.Arg399fs	coding	Pathogenic
3	126050714	CA	C	A126050715G	SLC41A3	NM_017836.4(SLC41A3):c.381+228del	noncoding	Benign
3	127003488	CAG	C	G127003490C	PLXNA1	NM_032242.4(PLXNA1):c.1518+20_1518+21del	noncoding	Benign
3	127004665	CTG	C	T127004666G	PLXNA1	NM_032242.4(PLXNA1):c.1574_1575del:p.Leu525fs	coding	Pathogenic/Likely_pathogenic
3	127014255	CG	C	G127014257A	PLXNA1	NM_032242.4(PLXNA1):c.2486del:p.Gly829fs	coding	Pathogenic
3	128060490	A	AT	G128060496T	SEC61A1	NM_013336.4(SEC61A1):c.463-13dup	noncoding	Benign
3	128481180	A	AG	A128481186G	GATA2	NM_032638.5(GATA2):c.1281dup:p.Phe428fs	coding	Pathogenic
3	128481245	T	TTCTTGGACTTGTTGGAC	A128481263T	GATA2	NM_032638.5(GATA2):c.1200_1216dup:p.Lys406fs	coding	Pathogenic
3	128481263	ATCTTCCGGTTCCGAGTCTGGATCCCTTCCTTCTTCATGGTCAGTGGCCTGTTAACCTAGAGGCAACCACCAGTTTTCAGAGGGCCAGTTCCTTCCTCCAGCAACATTCCTCCCACCCCGCCACAGCGTGGACCAGAGGCAGGTCAAGCTGAGGGTCCCAGGAAGCCAGGAATTGTGCCCGACCTTCATAGTCCCATCACCAGATGGCTACCATTCCAGGAAGGGCGGGTTCTGGCATATGGGGCTGACCCACACCCTCCCTGGCTCTGCCCACCGCATGCCAGCACTGCCCAGCCAACTGAAGTCCTCCCCCCCACCCTGACCCTTTTTAAGCAGAGAAACCACTTCCCTAGTCCG	A	T128481264A	GATA2	NM_032638.5(GATA2):c.1143+200_1198del	coding	Pathogenic
3	128481286	CCCTT	C	C128481292T	GATA2	NM_032638.5(GATA2):c.1172_1175del:p.Glu391fs	coding	Pathogenic
3	128481819	AT	A	T128481821G	GATA2	NM_032638.5(GATA2):c.1142del:p.Asn381fs	coding	Pathogenic
3	128481828	C	CTTGTAGTA	G128481837T	GATA2	NM_032638.5(GATA2):c.1126_1133dup:p.Lys378fs	coding	Pathogenic
3	128481837	GA	G	A128481838G	GATA2	NM_032638.5(GATA2):c.1124del:p.Leu375fs	coding	Pathogenic
3	128481848	CG	C	G128481849T	GATA2	NM_032638.5(GATA2):c.1113del:p.Asn371fs	coding	Pathogenic
3	128481857	CAG	C	A128481858G	GATA2	NM_032638.5(GATA2):c.1103_1104del:p.Pro368fs	coding	Pathogenic
3	128481862	TC	T	C128481866G	GATA2	NM_032638.5(GATA2):c.1099del:p.Asp367fs	coding	Pathogenic
3	128481862	T	TC	G128481867C	GATA2	NM_032638.5(GATA2):c.1099dup:p.Asp367fs	coding	Pathogenic
3	128481887	AGGT	A	G128481894T	GATA2	NM_032638.5(GATA2):c.1066ACC[2]:p.Thr358del	coding	Pathogenic
3	128481894	GGTT	G	T128481897C	GATA2	NM_032638.5(GATA2):c.1065_1067del:p.Thr358del	coding	Pathogenic
3	128481907	CA	C	A128481909T	GATA2	NM_032638.5(GATA2):c.1054del:p.Cys352fs	coding	Pathogenic
3	128481912	TGCACAACAGGTGCCGGCTC	T	G128481913T	GATA2	NM_032638.5(GATA2):c.1031_1049del:p.Arg344fs	coding	Pathogenic
3	128481920	AG	A	G128481922T	GATA2	NM_032638.5(GATA2):c.1041del:p.Cys348fs	coding	Pathogenic
3	128481923	T	TGCCGGCTCTTCTGGCG	A128481944G	GATA2	NM_032638.5(GATA2):c.1023_1038dup:p.Thr347fs	coding	Pathogenic/Likely_pathogenic
3	128481923	T	TGCCG	T128481930C	GATA2	NM_032638.5(GATA2):c.1035_1038dup:p.Thr347fs	coding	Pathogenic
3	128481924	GCCGGCTCTTCTGGCGGCCGACTGGGAGGGC	G	C128481925A	GATA2	NM_032638.5(GATA2):c.1018-10_1037del	coding	Pathogenic
3	128481926	C	CGGCCAGA	T128481930C	GATA2	NM_032638.5(GATA2):c.1035_1036insTCTGGCC:p.Gly346fs	coding	Pathogenic
3	128481930	TCTTCTGGCGGCCGACTG	T	C128481931G	GATA2	NM_032638.5(GATA2):c.1018-3_1031del	coding	Pathogenic
3	128481930	TCTTCTGGCGGC	T	T128481932G	GATA2	NM_032638.5(GATA2):c.1021_1031del:p.Ala341fs	coding	Pathogenic
3	128481932	T	TTCTGGCGGCC	G128481943T	GATA2	NM_032638.5(GATA2):c.1020_1029dup:p.Arg344fs	coding	Pathogenic
3	128481933	TCTGGCGGCCGA	T	C128481938G	GATA2	NM_032638.5(GATA2):c.1018_1028del	coding	Pathogenic
3	128481934	CTGGCGGCCGACTGGGAGGGCA	C	T128481935A	GATA2	NM_032638.5(GATA2):c.1018-11_1027del	coding	Pathogenic
3	128481935	TGGC	T	G128481939C	GATA2	NM_032638.5(GATA2):c.1021GCC[1]:p.Ala342del	coding	Pathogenic
3	128481935	T	TGGCG	C128481941G	GATA2	NM_032638.5(GATA2):c.1023_1026dup:p.Arg344fs	coding	Pathogenic
3	128481936	G	GCGGC	G128481937C	GATA2	NM_032638.5(GATA2):c.1025_1026insGCCG:p.Arg343fs	coding	Pathogenic
3	128481937	GCGGC	G	G128481940A	GATA2	NM_032638.5(GATA2):c.1021_1024del:p.Ala341fs	coding	Pathogenic
3	128481938	C	CG	C128481941G	GATA2	NM_032638.5(GATA2):c.1023dup:p.Ala342fs	coding	Pathogenic
3	128481938	CG	C	G128481940C	GATA2	NM_032638.5(GATA2):c.1023del:p.Ala342fs	coding	Pathogenic
3	128481940	GC	G	C128481942G	GATA2	NM_032638.5(GATA2):c.1021del:p.Ala341fs	coding	Pathogenic/Likely_pathogenic
3	128481942	C	CCTGCCTTGCCCTCCCAGTCG	G128481943C	GATA2	NM_032638.5(GATA2):c.1019_1020insCGACTGGGAGGGCAAGGCAG:p.Ala341fs	coding	Pathogenic
3	128481942	CG	C	G128481943A	GATA2	NM_032638.5(GATA2):c.1019del:p.Ser340fs	coding	Pathogenic
3	128483368	AT	A	T128483375A	GATA2	NM_032638.5(GATA2):c.1017+491del	noncoding	Benign
3	128483858	AC	A	C128483860A	GATA2	NM_032638.5(GATA2):c.1017+1del	noncoding	Pathogenic
3	128483882	A	AGTGGTCGGTTCTGCCCATTCATCTT	A128483913C	GATA2	NM_032638.5(GATA2):c.970_994dup:p.Leu332fs	coding	Pathogenic
3	128483884	T	TGGTC	T128483892C	GATA2	NM_032638.5(GATA2):c.989_992dup:p.Leu332fs	coding	Pathogenic
3	128483908	G	GT	G128483910T	GATA2	NM_032638.5(GATA2):c.968dup:p.His323fs	coding	Pathogenic
3	128483914	GAGGCCAC	G	C128483919A	GATA2	NM_032638.5(GATA2):c.956_962del:p.Cys319fs	coding	Pathogenic
3	128483925	CATTGCACAGGT	C	T128483927G	GATA2	NM_032638.5(GATA2):c.941_951del:p.Tyr314fs	coding	Pathogenic
3	128483925	C	CATTGCACAGGT	G128483938T	GATA2	NM_032638.5(GATA2):c.941_951dup:p.Ala318fs	coding	Pathogenic
3	128483940	GGCCGG	C	G128483940C	GATA2	NM_032638.5(GATA2):c.932_937delinsG:p.Thr311fs	coding	Pathogenic
3	128483960	CAG	C	A128483965G	GATA2	NM_032638.5(GATA2):c.915_916del:p.Trp306fs	coding	Pathogenic
3	128483984	C	CA	G128483986A	GATA2	NM_032638.5(GATA2):c.892dup:p.Cys298fs	coding	Pathogenic
3	128483996	TC	T	C128483999G	GATA2	NM_032638.5(GATA2):c.880del:p.Glu294fs	coding	Pathogenic
3	128485758	A	AG	T128485763G	GATA2	NM_032638.5(GATA2):c.839dup:p.Pro280_Lys281insTer	coding	Pathogenic
3	128485779	TCC	T	C128485784A	GATA2	NM_032638.5(GATA2):c.817_818del:p.Gly273fs	coding	Pathogenic
3	128485785	C	CA	G128485787A	GATA2	NM_032638.5(GATA2):c.812dup:p.Pro274fs	coding	Pathogenic
3	128485795	CCGGGGTGGAA	C	C128485796G	GATA2	NM_032638.5(GATA2):c.793_802del:p.Phe265fs	coding	Pathogenic
3	128485819	T	TAGTCGTGGGC	C128485832T	GATA2	NM_032638.5(GATA2):c.769_778dup:p.Tyr260fs	coding	Pathogenic
3	128485845	G	GGA	G128485849A	GATA2	NM_032638.5(GATA2):c.751_752dup:p.Tyr252fs	coding	Pathogenic
3	128485862	T	TG	T128485867G	GATA2	NM_032638.5(GATA2):c.735dup:p.Ile246fs	coding	Pathogenic
3	128485887	GC	G	C128485890A	GATA2	NM_032638.5(GATA2):c.710del:p.Gly237fs	coding	Pathogenic
3	128485912	AG	A	G128485916A	GATA2	NM_032638.5(GATA2):c.685del:p.Leu229fs	coding	Pathogenic
3	128485967	C	CGCCG	T128485972G	GATA2	NM_032638.5(GATA2):c.627_630dup:p.Val211fs	coding	Pathogenic
3	128486004	C	CGCGGAAGA	T128486013G	GATA2	NM_032638.5(GATA2):c.586_593dup:p.Gly199fs	coding	Pathogenic
3	128486004	CG	C	G128486005C	GATA2	NM_032638.5(GATA2):c.593del:p.Ala198fs	coding	Pathogenic
3	128486018	C	CT	G128486020T	GATA2	NM_032638.5(GATA2):c.579dup:p.Ala194fs	coding	Pathogenic
3	128486118	G	GGTGA	G128486124T	GATA2	NM_032638.5(GATA2):c.476_479dup:p.Pro161fs	coding	Pathogenic
3	128486160	A	AC	A128486166C	GATA2	NM_032638.5(GATA2):c.437dup:p.Gly147fs	coding	Pathogenic
3	128486160	AC	A	C128486165A	GATA2	NM_032638.5(GATA2):c.437del:p.Gly146fs	coding	Pathogenic
3	128486180	CAGAG	C	A128486183T	GATA2	NM_032638.5(GATA2):c.414_417del:p.Ser139fs	coding	Pathogenic
3	128486180	CAG	C	A128486185T	GATA2	NM_032638.5(GATA2):c.416_417del:p.Ser139fs	coding	Pathogenic
3	128486180	C	CA	G128486182A	GATA2	NM_032638.5(GATA2):c.417dup:p.Val140fs	coding	Pathogenic
3	128486193	T	TC	A128486196C	GATA2	NM_032638.5(GATA2):c.404dup:p.Gly136fs	coding	Pathogenic
3	128486244	CA	C	A128486245C	GATA2	NM_032638.5(GATA2):c.353del:p.Val118fs	coding	Pathogenic
3	128486279	CAG	C	A128486284G	GATA2	NM_032638.5(GATA2):c.317_318del:p.Ser106fs	coding	Pathogenic
3	128486279	C	CA	G128486281A	GATA2	NM_032638.5(GATA2):c.318dup:p.Ala107fs	coding	Pathogenic
3	128486291	CT	C	T128486294G	GATA2	NM_032638.5(GATA2):c.306del:p.Ala103fs	coding	Pathogenic
3	128486294	TG	T	G128486295C	GATA2	NM_032638.5(GATA2):c.303del:p.Ala103fs	coding	Pathogenic
3	128486295	GC	G	C128486300G	GATA2	NM_032638.5(GATA2):c.302del:p.Gly101fs	coding	Pathogenic
3	128486339	GGC	G	C128486341G	GATA2	NM_032638.5(GATA2):c.257_258del:p.Arg86fs	coding	Pathogenic
3	128486341	CG	C	G128486343C	GATA2	NM_032638.5(GATA2):c.256del:p.Arg86fs	coding	Pathogenic
3	128486823	ACG	A	G128486829C	GATA2	NM_032638.5(GATA2):c.207_208del:p.Val70fs	coding	Pathogenic
3	128486824	CGC	A	C128486824A	GATA2	NM_032638.5(GATA2):c.206_208delinsT:p.Arg69fs	coding	Pathogenic
3	128486948	GC	G	C128486951G	GATA2	NM_032638.5(GATA2):c.83del:p.Gly28fs	coding	Pathogenic
3	128487013	GCT	G	T128487015G	GATA2	NM_032638.5(GATA2):c.17_18del:p.Glu6fs	coding	Pathogenic
3	128813589	ACACACACACACACG	A	G128813603A	RAB7A	NM_004637.6(RAB7A):c.*181_*194del	noncoding	Benign
3	128884650	TAGAA	T	A128884655G	ACAD9	NC_000003.11:g.128603494_128603497del	noncoding	Pathogenic
3	128884685	A	AG	A128884687G	ACAD9	NM_014049.5(ACAD9):c.184dup:p.Asp62fs	coding	Pathogenic
3	128893242	CATG	C	T128893244A	ACAD9	NM_014049.5(ACAD9):c.245-311_245-309del	noncoding	Benign
3	128893564	GA	G	A128893569T	ACAD9	NM_014049.5(ACAD9):c.259del:p.Ile87fs	coding	Pathogenic
3	128893638	CA	C	A128893640G	ACAD9	NM_014049.5(ACAD9):c.330del:p.Val111fs	coding	Pathogenic
3	128895232	G	GA	G128895243A	ACAD9	NM_014049.5(ACAD9):c.347-68dup	noncoding	Benign
3	128896476	ACTTGC	A	T128896479A	ACAD9	NM_014049.5(ACAD9):c.497_501del:p.Tyr165_Leu166insTer	coding	Pathogenic
3	128896483	TA	T	A128896486C	ACAD9	NM_014049.5(ACAD9):c.504del:p.Lys168fs	coding	Pathogenic
3	128896487	CTG	C	T128896488G	ACAD9	NM_014049.5(ACAD9):c.506_507del:p.Leu169fs	coding	Pathogenic
3	128899406	T	TA	G128899407A	ACAD9	NM_014049.5(ACAD9):c.753_754insA:p.Gly252fs	coding	Pathogenic
3	128899523	G	GGT	A128899564G	ACAD9	NM_014049.5(ACAD9):c.808+63GT[21]	noncoding	Benign
3	128899523	G	GGTGT	A128899564G	ACAD9	NM_014049.5(ACAD9):c.808+63GT[22]	noncoding	Benign
3	128899523	G	GGTGTGT	A128899564G	ACAD9	NM_014049.5(ACAD9):c.808+63GT[23]	noncoding	Benign
3	128899523	GGT	G	G128899562A	ACAD9	NM_014049.5(ACAD9):c.808+63GT[19]	noncoding	Benign
3	128901172	T	TTGGATGGATGGA	A128901203G	ACAD9	NM_014049.5(ACAD9):c.809-103TGGA[10]	noncoding	Benign
3	128901172	T	TTGGATGGATGGATGGA	A128901203G	ACAD9	NM_014049.5(ACAD9):c.809-103TGGA[11]	noncoding	Benign
3	128901288	AT	A	T128901292G	ACAD9	NM_014049.5(ACAD9):c.825del:p.Phe275fs	coding	Pathogenic
3	128902625	AT	A	T128902627G	ACAD9	NM_014049.5(ACAD9):c.957del:p.Ile319fs	coding	Pathogenic
3	128904072	T	TG	A128904074G	ACAD9	NM_014049.5(ACAD9):c.970dup:p.Glu324fs	coding	Pathogenic
3	128904116	AATTTGGATTG	A	T128904120C	ACAD9	NM_014049.5(ACAD9):c.1017_1026del:p.Gly340fs	coding	Pathogenic
3	128904131	A	AG	T128904134G	ACAD9	NM_014049.5(ACAD9):c.1029+1dup	coding	Pathogenic/Likely_pathogenic
3	128904414	C	CT	A128904417T	ACAD9	NM_014049.5(ACAD9):c.1060dup:p.Tyr354fs	coding	Pathogenic
3	128906191	C	CA	G128906194A	ACAD9	NM_014049.5(ACAD9):c.1222dup:p.Arg408fs	coding	Pathogenic
3	128906236	T	TCCTCA	T128906242C	ACAD9	NM_014049.5(ACAD9):c.1266_1270dup:p.Ile424fs	coding	Pathogenic
3	128908193	T	TGAGA	T128908198G	ACAD9	NM_014049.5(ACAD9):c.1288_1291dup:p.Ile431fs	coding	Pathogenic
3	128909635	AGT	A	G128909638T	ACAD9	NM_014049.5(ACAD9):c.1563+217_1563+218del	noncoding	Benign
3	128910097	T	TGTCGCGGGCCAGCCGCTCC	A128910117G	ACAD9	NM_014049.5(ACAD9):c.1641_1659dup:p.Ile554fs	coding	Pathogenic
3	128910662	C	CTGAT	A128910667T	ACAD9	NM_014049.5(ACAD9):c.1693-78_1693-75dup	noncoding	Benign
3	128912829	GGA	G	G128912838A	ACAD9	NM_014049.5(ACAD9):c.*223GA[4]	noncoding	Benign/Likely_benign
3	129060778	CATAGAGTTGCCACCCAGGCCTCAGCCAGGACCTTTCAGGCCAGACAGGAGCACCTGACCAAAGGCTTCACAGGTAAGTGGCCCTCCGTATTACCCAGCATGGCCTCCCACAGGGAGAGAGGAGGTCAGTTCCTGTCCCTTTAACAAGACAGGGTTGGGTGGGACATTCCCTCTGAGACACCATCTCCTTGGCTGAGTCAAGATGAGTGAGTTGATTTGACACTTATTCACTGGAAACCTGCTGTGGGTAGGGGGAGCTCTGCTGGTGGAGGGGAAACGCCTGTGGGGAAGAACCAAACAGAGGGCCACGGTTGCCGAGACCCGAGTGTGAGTCTGGCCTCTGACACCACACCGGTGGCCCTGGGCACATTGCTTTCCCTCTCTGGGCCTCAGTTTCCCCAAGTCAGTGTTAGCCCAGATGAGTGGTTTTCCAGATGGGGTCCCACTGAGTTCCCCTCCCTGCTCCAGCCAGTGTCCCTGTCCTGCTGTCTTCTGCATCTGGGAATCAGGTAACAGCTCACTTAGCTGGTGGGGGGTGCTGGGCGCAGCCTGCAGGGCCCTCCAAGGCTCTTTCCTAGTCTCTGGGGACTGTGGTCCTGGGCTGGGACTCATTTAGCAGCCATCTGCTCCTCTCATCCCCAAGCAGGGGATGGGGTCTCTGCTAAGGGCCAGGAAGTCCCTTCCCCTTCCCAAAAACAAACTTACCCAATCCACAGCCGCCCTCACCGCCCGGCCTTCTACGGTGTCCAGAGACAGTTAGCCAGGCCTGGGCTGGGCACACTCCACCTTCCCTAGTCACCAGCTGGTTTCCCAGAGGAGAAGGCTGAGACCCGAGAAGGGAGGTGAGTGCACCCCGTCCCATGTCAGGCTCCGCTACATCCCCAGTGCTTGCCGTCCCTGAGGATCGGTCCAGGCTGCCAGGCCCTCCCTCACAGCCCCTCTCTCTGCAGCCAGCCTGTCCCATGCCTGCCTGGGGAGCCCTGTTCCTGCTCTGGGCCACAGCAGAGGCCACCAAGGACTGCCCCAGCCCATGTACCTGCCGCGCCCTGGAAACCATGGGGCTGTGGGTGGACTGCAGGGGCCACGGACTCACGGCCCTGCCTGCCCTGCCGGCCCGCACCCGCCACCTTCTGCTGGCCAACAACAGCCTTCAGTCCGTGCCCCCGGGAGCCTTTGACCACCTGCCCCAGCTGCAGACCCTCGATGTGACGCAGAACCCCTGGCACTGTGACTGCAGCCTCACCTATCTGCGCCTCTGGCTGGAGGACCGCACGCCCGAGGCCCTGCTGCAGGTCCGCTGTGCCAGCCCCAGCCTCGCTGCCCATGGCCCGCTGGGCCGGCTGACAGGCTACCAGCTGGGCAGCTGTGGCTGGCAGCTGCAGGCGTCCTGGGTGCGCCCGGGGGTCTTGTGGGACGTGGCGCTGGTCGCCGTGGCCGCGCTGGGCCTGGCTCTTCTGGCTGGCCTGCTGTGTGCCACCACAGAGGCCCTGGATTGAGCCAGGCCCCCAGAACCCCTGGCTCCAGGCCAGGGGGCCAGTCCCTGAGGCAGGTCCCCAGACTCCACCAAGCCTGGTCAGCCCAAACCACCAGAAGCCCAGAATAAACTGGCAGCTCAGCTGTTTTATATAA	C	A129060779G	GP9	NM_000174.5(GP9):c.-210_*133del:p.Met1fs	noncoding	Pathogenic
3	129437028	TAGAG	T	A129437031T	MBD4	NM_001276270.2(MBD4):c.612_615del:p.Ser205fs	coding	Pathogenic
3	129450011	CT	C	T129450026G	IFT122	NM_052989.3(IFT122):c.108+89del	noncoding	Benign
3	129450011	CTT	C	T129450025G	IFT122	NM_052989.3(IFT122):c.108+88_108+89del	noncoding	Benign
3	129460780	C	CTG	G129460781T	IFT122	NM_052989.3(IFT122):c.273-448_273-447insTG	noncoding	Benign
3	129460808	AT	A	T129460811G	IFT122	NM_052989.3(IFT122):c.273-417del	noncoding	Benign/Likely_benign
3	129460946	AAGGCCAAGGTG	A	A129460947G	IFT122	NM_052989.3(IFT122):c.273-281_273-271del	coding	Pathogenic
3	129467298	CT	C	T129467302C	IFT122	NM_052989.3(IFT122):c.740+236del	noncoding	Benign
3	129476940	G	GT	C129476945T	IFT122	NM_052989.3(IFT122):c.1147+143dup	noncoding	Benign
3	129476945	C	CT	G129476962T	IFT122	NM_052989.3(IFT122):c.1147+160dup	noncoding	Benign
3	129478433	G	GTTTTA	A129478446T	IFT122	NM_052989.3(IFT122):c.1350+216TTTTA[3]	noncoding	Benign
3	129479864	A	AG	T129479867G	IFT122	NM_052989.3(IFT122):c.1432dup:p.Val478fs	coding	Pathogenic
3	129499976	CA	C	A129499978G	IFT122	NM_052989.3(IFT122):c.2285del:p.Lys762fs	coding	Pathogenic
3	129517297	CACACAG	C	C129517299G	IFT122	NM_052989.3(IFT122):c.3266-170_3266-165del	noncoding	Benign
3	129519139	GACTCC	G	C129519141T	IFT122	NM_052989.3(IFT122):c.3426_3430del:p.Ser1143fs	coding	Pathogenic
3	129528766	GC	G	C129528769T	RHO	NM_000539.3(RHO):c.36del:p.Phe13fs	coding	Pathogenic
3	129532256	TC	T	C129532260G	RHO	NM_000539.3(RHO):c.540del:p.Glu181fs	coding	Pathogenic
3	129532425	C	CG	T129532432G	RHO	NM_000539.3(RHO):c.696+15dup	noncoding	Benign
3	130930526	AG	A	G130930527T	ATP2C1	NM_001378687.1(ATP2C1):c.117+1del	coding	Pathogenic
3	130964161	C	CA	G130964163A	ATP2C1	NM_001378687.1(ATP2C1):c.1024+67dup	noncoding	Benign
3	130979674	TC	T	C130979675T	ATP2C1	NM_001378687.1(ATP2C1):c.1741+256del	noncoding	Benign
3	130979683	CA	C	A130979685C	ATP2C1	NM_001378687.1(ATP2C1):c.1741+266del	noncoding	Benign
3	130999498	ACT	A	C130999503G	ATP2C1	NM_001378687.1(ATP2C1):c.2488-19CT[2]	noncoding	Benign
3	131001104	G	GAA	G131001128A	ATP2C1	NM_001378687.1(ATP2C1):c.2630-94_2630-93dup	noncoding	Benign
3	131001104	G	GA	G131001128A	ATP2C1	NM_001378687.1(ATP2C1):c.2630-93dup	noncoding	Benign
3	131016043	G	GT	A131016055T	ATP2C1	NM_014065.4(ASTE1):c.1709+100dup	noncoding	Benign
3	131468049	CA	C	A131468061G	MRPL3	NM_007208.4(MRPL3):c.894+41del	noncoding	Benign
3	131468063	GA	G	A131468072G	MRPL3	NM_007208.4(MRPL3):c.894+27del	noncoding	Benign
3	131469533	TAC	T	C131469557A	MRPL3	NM_007208.4(MRPL3):c.816+139GT[11]	noncoding	Benign
3	131489839	AC	A	C131489840A	MRPL3	NM_007208.4(MRPL3):c.568+141del	noncoding	Benign
3	131500192	TAAA	T	A131500199T	MRPL3	NM_007208.4(MRPL3):c.369+235_369+237del	noncoding	Benign
3	132434384	C	CA	C132434399A	DNAJC13	NM_015268.4(DNAJC13):c.-13-140dup	noncoding	Benign
3	132434489	T	TAG	T132434490A	DNAJC13	NM_015268.4(DNAJC13):c.-13-49_-13-48insAG	noncoding	Benign
3	132446756	AG	A	G132446759C	DNAJC13	NM_015268.4(DNAJC13):c.144+209del	noncoding	Benign
3	132450861	T	TA	C132450874A	DNAJC13	NM_015268.4(DNAJC13):c.537+26dup	noncoding	Benign
3	132460842	TCCTTTTGAG	T	C132460843G	DNAJC13	NM_015268.4(DNAJC13):c.1558-207_1558-199del	noncoding	Benign
3	132463599	TG	T	G132463600T	DNAJC13	NM_015268.4(DNAJC13):c.1771-96del	noncoding	Benign
3	132474614	T	TA	T132474617A	DNAJC13	NM_015268.4(DNAJC13):c.2292-316dup	noncoding	Benign
3	132474648	CT	C	T132474655C	DNAJC13	NM_015268.4(DNAJC13):c.2292-277del	noncoding	Benign
3	132474814	TCCCC	T	C132474823T	DNAJC13	NM_015268.4(DNAJC13):c.2292-109_2292-106del	noncoding	Benign
3	132474814	TCCC	T	C132474824T	DNAJC13	NM_015268.4(DNAJC13):c.2292-108_2292-106del	noncoding	Benign
3	132474814	TCC	T	C132474825T	DNAJC13	NM_015268.4(DNAJC13):c.2292-107_2292-106del	noncoding	Benign
3	132474814	TC	T	C132474826T	DNAJC13	NM_015268.4(DNAJC13):c.2292-106del	noncoding	Benign
3	132474826	C	CTT	G132474845T	DNAJC13	NM_015268.4(DNAJC13):c.2292-89_2292-88dup	noncoding	Benign
3	132493821	C	CT	C132493825T	DNAJC13	NM_015268.4(DNAJC13):c.3826-320dup	noncoding	Benign
3	132494924	TA	T	A132494936T	DNAJC13	NM_015268.4(DNAJC13):c.3942-152del	noncoding	Benign
3	132499597	A	AT	A132499600T	DNAJC13	NM_015268.4(DNAJC13):c.4342-135dup	noncoding	Benign
3	132502232	CT	C	T132502248A	DNAJC13	NM_015268.4(DNAJC13):c.4537-41del	noncoding	Benign
3	132660572	TCC	T	C132660573A	UBA5	NM_024818.6(UBA5):c.36_37del:p.Gln13fs	coding	Pathogenic
3	132670266	A	AT	C132670270T	UBA5	NM_024818.6(UBA5):c.479dup:p.Met161fs	coding	Pathogenic
3	132675269	TGTTA	T	A132675273T	UBA5	NM_024818.6(UBA5):c.838_841del:p.Ser280fs	coding	Pathogenic
3	132682101	GA	G	A132682105C	NPHP3	NM_153240.5(NPHP3):c.3813-12del	noncoding	Benign
3	132682727	GT	G	T132682730C	NPHP3	NM_153240.5(NPHP3):c.3787del:p.Thr1263fs	coding	Pathogenic
3	132683629	G	GA	T132683637A	NPHP3	NM_153240.5(NPHP3):c.3571-112dup	noncoding	Benign
3	132684720	GCA	G	C132684723G	NPHP3	NM_153240.5(NPHP3):c.3402_3403del:p.Ala1135fs	coding	Pathogenic
3	132686048	C	CA	G132686063A	NPHP3	NM_153240.5(NPHP3):c.3329+198dup	noncoding	Benign
3	132688903	A	AG	T132688908G	NPHP3	NM_153240.5(NPHP3):c.2884-16dup	noncoding	Benign
3	132689073	CCTGA	C	C132689078G	NPHP3	NM_153240.5(NPHP3):c.2880_2883del:p.Ser960fs	noncoding	Pathogenic
3	132696789	GAC	G	C132696791G	NPHP3	NM_153240.5(NPHP3):c.2111_2112del:p.Cys704fs	coding	Pathogenic
3	132697307	TA	T	A132697309T	NPHP3	NM_153240.5(NPHP3):c.2040del:p.Ile680_Ile681insTer	coding	Pathogenic
3	132699394	T	TA	C132699396A	NPHP3	NM_153240.5(NPHP3):c.1943dup:p.Ile649fs	coding	Pathogenic
3	132699971	CAG	C	A132699976T	NPHP3	NM_153240.5(NPHP3):c.1832_1833del:p.Ser611fs	coding	Pathogenic
3	132701128	C	CAT	G132701131A	NPHP3	NM_153240.5(NPHP3):c.1628+300_1628+301dup	noncoding	Benign
3	132701537	G	GA	T132701547A	NPHP3	NM_153240.5(NPHP3):c.1525-13dup	noncoding	Benign
3	132701660	G	GT	G132701662T	NPHP3	NM_153240.5(NPHP3):c.1525-128dup	noncoding	Benign
3	132705744	TTAA	T	A132705749C	NPHP3	NM_153240.5(NPHP3):c.1340TTA[1]:p.Ile448del	coding	Pathogenic
3	132705820	TA	T	A132705825T	NPHP3	NM_153240.5(NPHP3):c.1276-7del	noncoding	Benign
3	132708211	CT	C	T132708213C	NPHP3	NM_153240.5(NPHP3):c.1164del:p.Gly389fs	coding	Pathogenic
3	132713109	A	AT	C132713118T	NPHP3	NM_153240.5(NPHP3):c.1118+16dup	noncoding	Benign
3	132713109	AT	A	T132713117C	NPHP3	NM_153240.5(NPHP3):c.1118+16del	noncoding	Benign
3	132713203	A	AT	C132713208T	NPHP3	NM_153240.5(NPHP3):c.1040dup:p.Asn347fs	coding	Pathogenic
3	132716863	ACTTCCCAAGG	A	T132716866C	NPHP3	NM_153240.5(NPHP3):c.707_716del:p.Ala236fs	coding	Pathogenic
3	132719754	CT	C	T132719755C	NPHP3	NM_153240.5(NPHP3):c.469del:p.Arg157fs	coding	Pathogenic
3	132719903	C	CAT	G132719920A	NPHP3	NM_153240.5(NPHP3):c.394-89AT[9]	noncoding	Benign
3	132721979	AGCCGC	A	G132721980T	NPHP3	NM_153240.5(NPHP3):c.372_376del:p.Lys124fs	coding	Pathogenic
3	132722286	CG	C	G132722287C	NPHP3	NM_153240.5(NPHP3):c.69del:p.Gly24fs	coding	Pathogenic
3	132722325	CG	C	G132722329C	NPHP3	NM_153240.5(NPHP3):c.30del:p.Ala11fs	coding	Pathogenic
3	133400245	CG	C	G133400249T	BFSP2	NM_003571.4(BFSP2):c.166del:p.Val56fs	coding	Pathogenic
3	133448962	G	GT	C133448972T	BFSP2	NM_003571.4(BFSP2):c.729+326dup	noncoding	Benign
3	133755422	CAG	AA	C133755422A	TF	NM_001063.4(TF):c.562_564delinsAA:p.Gln188fs	coding	Pathogenic
3	133770444	CT	C	T133770445G	TF	NM_001063.4(TF):c.1623-63del	noncoding	Benign
3	133944980	A	AGT	G133944992T	SLCO2A1	NM_005630.3(SLCO2A1):c.1461+105AC[6]	noncoding	Benign
3	133947285	GGT	G	T133947287G	SLCO2A1	NM_005630.3(SLCO2A1):c.1264_1265del:p.Thr422fs	coding	Pathogenic
3	134029473	A	AACAC	T134029490A	SLCO2A1	NM_005630.3(SLCO2A1):c.96+218GT[10]	noncoding	Benign
3	134551724	CATATAT	C	T134551750C	CEP63	NM_001353108.3(CEP63):c.1381-201AT[12]	noncoding	Benign
3	134551740	TATATATATATATATAC	T	T134551742C	CEP63	NM_001353108.3(CEP63):c.1381-184_1381-169del	noncoding	Benign
3	134551742	TATATATATATATAC	T	T134551744C	CEP63	NM_001353108.3(CEP63):c.1381-182_1381-169del	noncoding	Benign
3	134551744	TATATATATATAC	T	T134551746C	CEP63	NM_001353108.3(CEP63):c.1381-180_1381-169del	noncoding	Benign
3	134558349	T	TA	T134558354A	CEP63	NM_001353108.3(CEP63):c.1673+6dup	noncoding	Benign
3	134647611	CTG	C	T134647612A	KY	NM_178554.6(KY):c.137-116_137-115del	noncoding	Benign
3	136250362	CCGGCACAGCAAAAATGGCGG	C	C136250368T	PCCB	NM_000532.5(PCCB):c.-8_12del:p.Met1fs	noncoding	Pathogenic
3	136250478	G	GT	A136250481T	PCCB	NM_000532.5(PCCB):c.105dup:p.Asn36Ter	coding	Pathogenic
3	136250555	GC	TT	G136250555T	PCCB	NM_000532.5(PCCB):c.180_181delinsTT:p.Lys60_Arg61delinsAsnTer	coding	Pathogenic
3	136255853	TAGGGAAAGCTAACAGCC	T	A136255859G	PCCB	NC_000003.11:g.135974696_135974712del	noncoding	Pathogenic
3	136256621	CA	C	A136256622G	PCCB	NM_000532.5(PCCB):c.371del:p.Gln124fs	coding	Pathogenic
3	136261954	C	CAGCTGTT	T136261956G	PCCB	NM_000532.5(PCCB):c.433_434insGCTGTTA:p.Met145fs	coding	Pathogenic
3	136284316	T	TGA	T136284317G	PCCB	NM_000532.5(PCCB):c.654+369_654+370insGA	noncoding	Benign
3	136284317	T	TGTTTCA	C136284318G	PCCB	NM_000532.5(PCCB):c.654+370_654+371insGTTTCA	noncoding	Benign
3	136293781	GC	G	C136293784T	PCCB	NM_000532.5(PCCB):c.683del:p.Pro228fs	coding	Pathogenic
3	136293848	CCA	C	A136293852C	PCCB	NM_000532.5(PCCB):c.751_752del:p.Thr251fs	coding	Pathogenic
3	136317000	T	TGG	T136317003G	PCCB	NM_000532.5(PCCB):c.1027_1028dup:p.Phe344fs	coding	Pathogenic
3	136317016	AAT	A	A136317017G	PCCB	NM_000532.5(PCCB):c.1043_1044del:p.Asn348fs	coding	Pathogenic
3	136317212	A	AT	A136317243T	PCCB	NM_000532.5(PCCB):c.1090+178dup	noncoding	Benign
3	136317212	A	ATTTT	A136317243T	PCCB	NM_000532.5(PCCB):c.1090+175_1090+178dup	noncoding	Benign
3	136317212	A	ATTTTT	A136317243T	PCCB	NM_000532.5(PCCB):c.1090+174_1090+178dup	noncoding	Benign
3	136317212	ATTTTTTT	A	T136317236A	PCCB	NM_000532.5(PCCB):c.1090+172_1090+178del	noncoding	Benign
3	136326853	T	TG	T136326855G	PCCB	NM_000532.5(PCCB):c.1142dup:p.Cys381fs	coding	Pathogenic
3	136327169	T	TA	C136327171A	PCCB	NM_000532.5(PCCB):c.1214dup:p.Tyr405Ter	coding	Pathogenic
3	136327215	C	CT	G136327217T	PCCB	NM_000532.5(PCCB):c.1260dup:p.Glu421Ter	coding	Pathogenic/Likely_pathogenic
3	136327228	AC	A	C136327231A	PCCB	NM_000532.5(PCCB):c.1275del:p.Val427fs	coding	Pathogenic
3	136327236	TCA	T	C136327239G	PCCB	NM_000532.5(PCCB):c.1283_1284del:p.Thr428fs	coding	Pathogenic
3	136327256	GTGAGGACC	G	G136327258C	PCCB	NM_000532.5(PCCB):c.1299+3_1299+10del	coding	Pathogenic
3	136327692	ATGCC	A	C136327695G	PCCB	NM_000532.5(PCCB):c.1361_1364del:p.Ala454fs	coding	Pathogenic
3	136327712	ATTGCAGT	A	T136327713C	PCCB	NM_000532.5(PCCB):c.1379_1385del:p.Ile460fs	coding	Pathogenic/Likely_pathogenic
3	136328755	CAG	C	A136328756G	PCCB	NM_000532.5(PCCB):c.1399-2_1399-1del	noncoding	Pathogenic
3	136328778	CA	C	A136328781G	PCCB	NM_000532.5(PCCB):c.1422del:p.His476fs	coding	Pathogenic
3	138067766	TCAC	T	C138067770G	DZIP1L	NM_173543.3(DZIP1L):c.1833-69_1833-67del	noncoding	Benign
3	138944666	C	CA	G138944668A	FOXL2	NM_023067.4(FOXL2):c.*925dup	noncoding	Benign
3	138945277	TGGGCAGGAGACGCTGGGGCTCCGGAAAGAGACGAGCCCAGTAGAAAGCGCGCAGAGAGGCAGCTTCAGGCCAGGGGAGTGCAAGGTCACAGAGGTCAGGGAGGTGAGCACAGGAGGACATAAACTGAGGGGACAAAGAGGAGCGACAGGAGCTTAGGAAAGCGAAAAAGCACAGAGGGACCCTGGGCGCTGGCTCCAGAGGCGGGCCCAGAGGGTGTGAGGTCAGGCTGGCGGCGGCGTCGTCGGCTGCGACCGGGGCCGGCGTCGCGCGTCCCTGCATCCTCGCATCCGTCTGCACCGGCATGCGGTGGGCTCTCAGAGATCGAGGCGCGAATGCAGCGCGCCGGTCTTGCTGTCGTGGTCCCAGTAAGAGCAATGCATCATGGCGAGCTCGGGCTGCCGGGCACAAGCGAACTGCAGGCCCGGCGCACTGGTGGGCGCGGGCGCCGGGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCGCGTGCAGATGGTGTGCGTGCGGATGCGGGTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGGCCTCCCAGGCCATTGTACGAGTTCACTACGCCGGGGGGCAGCGCCATGCTCTGCACGCGTGTGTACGGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC	GCGGCTGCAGCAGCTGCGGCTGCAGCCGCGGGCCCCGGTAGCCCTGGCGCGGCCGCTGTGGTCAAGGGGCTGGCGGGCCCGGCCGCCTCGTACGGGCCGTACACACGCGTGCAGAGCATGGCGCTGCCCCCCGGCGTAGTGAACTCGTACAATGGCCTGGGAGGCCCGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCACCCGCATCCGCACGCACACCATCTGCACGCGGCCGCCGCACCGCCGCCTGCCCCACCGCACCACGGGGCCGCCGCGCCGCCGCCGGGCCAGCTCAGCCCTGCCAGCCCAGCCACCGCCGCGCCCCCGGCGCCCGCGCCCACCAGTGCGCCGGGCCTGCAGTTCGCTTGTGCCCGGCAGCCCGAGCTCGCCATGATGCATTGCTCTTACTGGGACCACGACAGCAAGACCGGCGCGCTGCATTCGCGCCTCGATCTCTGAGAGCCCACCGCATGCCGGTGCAGACGGATGCGAGGATGCAGGGACGCGCGACGCCGGCCCCGGTCGCAGCCGACGACGCCGCCGCCAGCCTGACCTCACACCCTCTGGGCCCGCCTCTGGAGCCAGCGCCCAGGGTCCCTCTGTGCTTTTTCGCTTTCCTAAGCTCCTGTCGCTCCTCTTTGTCCCCTCAGTTTATGTCCTCCTGTGCTCACCTCCCTGACCTCTGTGACCTTGCACTCCCCTGGCCTGAAGCTGCCTCTCTGCGCGCTTTCTACTGGGCTCGTCTCTTTCCGGAGCCCCAGCGTCTCCTGCCCA	T138945277G	FOXL2	NM_023067.4(FOXL2):c.673_*315inv:p.Ala225_Leu376delinsTrpAlaGlyAspAlaGlyAlaProGluArgAspGluProSerArgLysArgAlaGluArgGlnLeuGlnAlaArgGlyValGlnGlyHisArgGlyGlnGlyGlyGluHisArgArgThr	noncoding	Pathogenic
3	138945851	TG	T	G138945856T	FOXL2	NM_023067.4(FOXL2):c.871del:p.His291fs	coding	Pathogenic
3	138945851	T	TG	T138945857G	FOXL2	NM_023067.4(FOXL2):c.871dup:p.His291fs	coding	Pathogenic
3	138945954	G	GC	G138945958C	FOXL2	NM_023067.4(FOXL2):c.768dup:p.Pro257fs	coding	Pathogenic
3	138946024	G	GGCTGCAGCCGCAGCT	T138946051A	FOXL2	NM_023067.4(FOXL2):c.684_698dup:p.Ala234_Gly235insAlaAlaAlaAlaAla	coding	Pathogenic
3	138946030	AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC	A	G138946034A	FOXL2	NM_023067.4(FOXL2):c.663_692del:p.Ala225_Ala234del	coding	Pathogenic
3	139352782	CAG	C	G139352788T	MRPS22	NM_020191.4(MRPS22):c.874_875del:p.Asp292fs	coding	Pathogenic
3	139355796	G	GT	C139355806T	MRPS22	NM_020191.4(MRPS22):c.987+15dup	noncoding	Benign/Likely_benign
3	139356757	TATTA	T	A139356762T	MRPS22	NM_020191.4(MRPS22):c.988-157_988-154del	noncoding	Benign
3	139379154	A	AC	T139379156C	COPB2	NM_004766.3(COPB2):c.247dup:p.Val83fs	coding	Pathogenic
3	141512044	GT	G	T141512057C	RASA2	NM_006506.5(RASA2):c.134-106del	noncoding	Benign
3	141558690	A	AT	A141558701T	RASA2	NM_006506.5(RASA2):c.685-186dup	noncoding	Benign
3	141576985	A	AT	C141576993T	RASA2	NM_006506.5(RASA2):c.1484-8dup	noncoding	Benign
3	141580555	T	TACACAC	G141580579C	RASA2	NM_006506.5(RASA2):c.1674+105AC[14]	noncoding	Benign
3	141580555	T	TAC	G141580579C	RASA2	NM_006506.5(RASA2):c.1674+105AC[12]	noncoding	Benign
3	141585802	C	CATAA	T141585827A	RASA2	NM_006506.5(RASA2):c.1753-222ATAA[7]	noncoding	Benign
3	142457705	A	ATTAT	G142457710T	ATR	NM_001184.4(ATR):c.7550_7553dup:p.Asn2518delinsLysTer	coding	Pathogenic
3	142466384	G	GT	A142466387T	ATR	NM_001184.4(ATR):c.6836dup:p.Asn2279fs	coding	Pathogenic
3	142469330	C	CT	A142469335T	ATR	NM_001184.4(ATR):c.6552+6dup	noncoding	Benign
3	142496278	C	CAT	T142496279A	ATR	NM_001184.4(ATR):c.5898+82_5898+83insAT	noncoding	Benign
3	142496278	CT	C	T142496279A	ATR	NM_001184.4(ATR):c.5898+82del	noncoding	Benign
3	142496281	TATATATATA	T	A142496282T	ATR	NM_001184.4(ATR):c.5898+71_5898+79del	noncoding	Benign
3	142496281	TATATATATATA	T	A142496282T	ATR	NM_001184.4(ATR):c.5898+69_5898+79del	noncoding	Benign
3	142496281	TATATATATATATA	T	A142496282T	ATR	NM_001184.4(ATR):c.5898+67_5898+79del	noncoding	Benign
3	142496281	TATATATATATATATATATATATATATATA	T	A142496282T	ATR	NM_001184.4(ATR):c.5898+51_5898+79del	noncoding	Benign
3	142496381	C	CCCTTTCCA	G142496391C	ATR	NM_001184.4(ATR):c.5870_5877dup:p.Ala1960fs	coding	Pathogenic
3	142496472	C	CCTTTCTAG	G142496475T	ATR	NM_001184.4(ATR):c.5786_5787insCTAGAAAG:p.Arg1929delinsSerTer	coding	Pathogenic
3	142497071	AG	A	G142497073A	ATR	NM_001184.4(ATR):c.5679del:p.Tyr1894fs	coding	Pathogenic
3	142497187	TG	T	G142497188C	ATR	NM_001184.4(ATR):c.5563del:p.His1855fs	coding	Pathogenic
3	142503431	A	AC	T142503433C	ATR	NM_001184.4(ATR):c.5218dup:p.Val1740fs	coding	Pathogenic
3	142508043	G	GTATC	C142508048T	ATR	NM_001184.4(ATR):c.4915_4918dup:p.Thr1640fs	coding	Pathogenic
3	142508065	G	GA	C142508070A	ATR	NM_001184.4(ATR):c.4896dup:p.Leu1633fs	coding	Pathogenic
3	142512220	TA	T	A142512238G	ATR	NM_001184.4(ATR):c.4852+39del	noncoding	Benign
3	142512220	T	TAA	G142512239A	ATR	NM_001184.4(ATR):c.4852+22_4852+23dup	noncoding	Benign
3	142512220	T	TA	G142512239A	ATR	NM_001184.4(ATR):c.4852+22dup	noncoding	Benign
3	142536199	TC	T	C142536202T	ATR	NC_000003.11:g.142255042del	coding	Pathogenic
3	142540864	CA	C	A142540878T	ATR	NM_001184.4(ATR):c.3581+39del	noncoding	Benign
3	142540916	T	TCA	G142540919C	ATR	NM_001184.4(ATR):c.3567_3568dup:p.Glu1190fs	coding	Pathogenic
3	142542712	T	TA	G142542720A	ATR	NM_001184.4(ATR):c.3402dup:p.Asn1135Ter	coding	Pathogenic
3	142547928	TA	T	A142547936T	ATR	NM_001184.4(ATR):c.3172-19del	noncoding	Benign
3	142553433	A	AAC	T142553459C	ATR	NM_001184.4(ATR):c.2634-59GT[13]	noncoding	Benign
3	142553455	CACAT	C	T142553459C	ATR	NM_001184.4(ATR):c.2634-61_2634-58del	noncoding	Benign
3	142553678	C	CAG	C142553681A	ATR	NM_001184.4(ATR):c.2593_2594dup:p.Leu865_Lys866insTer	coding	Pathogenic
3	142555897	AT	A	T142555907C	ATR	NM_001184.4(ATR):c.2320del:p.Ile774fs	coding	Pathogenic
3	142558557	A	AATAG	A142558585G	ATR	NM_001184.4(ATR):c.1885+43CTAT[7]	noncoding	Benign
3	142558581	GATAA	G	T142558587A	ATR	NM_001184.4(ATR):c.1885+39_1885+42del	noncoding	Benign
3	142558623	C	CA	T142558626A	ATR	NM_001184.4(ATR):c.1885dup:p.Ser629fs	noncoding	Pathogenic
3	142558626	T	TTGTG	A142558627T	ATR	NM_001184.4(ATR):c.1882_1883insCACA:p.Tyr628fs	coding	Pathogenic
3	142558986	AAAG	A	G142558992T	ATR	NM_001184.4(ATR):c.1733-213_1733-211del	noncoding	Benign
3	142561431	TA	T	A142561437T	ATR	NM_001184.4(ATR):c.1171-11del	noncoding	Benign
3	142669676	TGA	T	G142669677T	PLS1	NM_001145319.2(PLS1):c.234+124_234+125del	noncoding	Benign
3	142678237	CT	C	T142678247G	PLS1	NM_001145319.2(PLS1):c.579+134del	noncoding	Benign
3	142689429	C	CATAAATAAATAA	G142689459T	PLS1	NM_001145319.2(PLS1):c.982-188ATAA[10]	noncoding	Benign
3	142689429	C	CATAAATAA	G142689459T	PLS1	NM_001145319.2(PLS1):c.982-188ATAA[9]	noncoding	Benign
3	142689429	C	CATAA	G142689459T	PLS1	NM_001145319.2(PLS1):c.982-188ATAA[8]	noncoding	Benign
3	142704815	AT	A	T142704831G	PLS1	NM_001145319.2(PLS1):c.1629+245del	noncoding	Benign
3	143693253	AT	A	T143693258C	SLC9A9	NM_173653.4(SLC9A9):c.587del:p.Asn196fs	coding	Pathogenic
3	146072275	CAT	C	A146072276G	PLOD2	NM_182943.3(PLOD2):c.1848+284_1848+285del	noncoding	Benign
3	146076989	CTTTA	C	T146076991A	PLOD2	NM_182943.3(PLOD2):c.1564-98_1564-95del	noncoding	Benign
3	146092107	C	CA	G146092117A	PLOD2	NM_182943.3(PLOD2):c.778-215dup	noncoding	Benign
3	146160922	CA	C	A146160923G	PLOD2	NM_182943.3(PLOD2):c.67del:p.Cys23fs	coding	Pathogenic
3	146160981	T	TC	A146160988C	PLOD2	NM_182943.3(PLOD2):c.8dup:p.Cys4fs	coding	Pathogenic/Likely_pathogenic
3	147409529	CT	C	T147409547C	ZIC1	NM_003412.4(ZIC1):c.-566del	noncoding	Benign
3	148741263	CT	C	T148741268A	AGTR1	NM_000685.5(AGTR1):c.233del:p.Leu78fs	coding	Pathogenic
3	148991089	AAGGAATGATTAT	A	G148991092A	GYG1	Single_allele	noncoding	Benign
3	148994524	GA	G	A148994527G	GYG1	NM_004130.4(GYG1):c.143+250del	noncoding	Benign
3	148997054	TTG	T	G148997082A	GYG1	NM_004130.4(GYG1):c.481+151TG[13]	noncoding	Benign
3	148997054	TTGTG	T	G148997080A	GYG1	NM_004130.4(GYG1):c.481+151TG[12]	noncoding	Benign
3	148997054	T	TTG	A148997084G	GYG1	NM_004130.4(GYG1):c.481+151TG[15]	noncoding	Benign
3	148997054	T	TTGTGTG	A148997084G	GYG1	NM_004130.4(GYG1):c.481+151TG[17]	noncoding	Benign
3	149009158	CA	C	A149009174T	GYG1	NM_004130.4(GYG1):c.482-102del	noncoding	Benign
3	149009158	C	CA	T149009175A	GYG1	NM_004130.4(GYG1):c.482-102dup	noncoding	Benign
3	149129746	AC	A	C149129749G	HPS3	NM_032383.5(HPS3):c.26del:p.Pro9fs	coding	Pathogenic
3	149129901	ACGCTGGGCCGGGTGTTG	A	T149129905C	HPS3	NM_032383.5(HPS3):c.182_198del:p.Leu61fs	coding	Pathogenic
3	149129917	TGCGCCTGGCCTACA	T	C149129921A	HPS3	NM_032383.5(HPS3):c.198_211del:p.Leu67fs	coding	Pathogenic
3	149129925	G	GTGTTA	C149129926T	HPS3	NM_032383.5(HPS3):c.202_203insTGTTA:p.Ala68fs	coding	Pathogenic
3	149140031	AAAAC	A	C149140035G	HPS3	NM_032383.5(HPS3):c.249_252del:p.Asn83fs	coding	Pathogenic
3	149140088	ACT	A	T149140092G	HPS3	NM_032383.5(HPS3):c.306_307del:p.Arg103fs	coding	Pathogenic
3	149140484	GAC	G	A149140485G	HPS3	NM_032383.5(HPS3):c.699_700del:p.Arg234fs	coding	Pathogenic
3	149141032	T	TA	T149141033A	HPS3	NM_032383.5(HPS3):c.728_729insA:p.Ser244fs	coding	Pathogenic
3	149141091	GA	G	A149141097G	HPS3	NM_032383.5(HPS3):c.793del:p.Ser265fs	coding	Pathogenic
3	149141118	G	GGA	T149141119G	HPS3	NM_032383.5(HPS3):c.814_815insGA:p.Val272fs	coding	Pathogenic
3	149141130	T	TA	C149141131A	HPS3	NM_032383.5(HPS3):c.826_827insA:p.Ser276fs	coding	Pathogenic
3	149141161	AT	A	T149141163C	HPS3	NM_032383.5(HPS3):c.859del:p.Ser287fs	coding	Pathogenic
3	149141200	C	CT	A149141214T	HPS3	NM_032383.5(HPS3):c.884+25dup	noncoding	Benign
3	149141200	C	CTTT	A149141214T	HPS3	NM_032383.5(HPS3):c.884+23_884+25dup	noncoding	Benign
3	149141200	CT	C	T149141213A	HPS3	NM_032383.5(HPS3):c.884+25del	noncoding	Benign/Likely_benign
3	149145377	A	AAT	T149145380A	HPS3	NM_032383.5(HPS3):c.995_996dup:p.Leu333fs	coding	Pathogenic
3	149145425	TTACCTCATGTGGGC	T	C149145428T	HPS3	NM_032383.5(HPS3):c.1045_1058del:p.Pro349fs	coding	Pathogenic
3	149150505	GC	G	C149150508A	HPS3	NM_032383.5(HPS3):c.1164-91del	noncoding	Benign
3	149150602	CA	C	A149150604C	HPS3	NM_032383.5(HPS3):c.1169del:p.Asn390fs	coding	Pathogenic
3	149150620	T	TGTGCG	A149150630G	HPS3	NM_032383.5(HPS3):c.1190_1194dup:p.Ser399fs	coding	Pathogenic
3	149155128	T	TA	T149155133A	HPS3	NM_032383.5(HPS3):c.1426dup:p.Ile476fs	coding	Pathogenic
3	149155213	A	AT	G149155215T	HPS3	NM_032383.5(HPS3):c.1508dup:p.Met503fs	coding	Pathogenic
3	149157337	C	CT	G149157344T	HPS3	NM_032383.5(HPS3):c.1510-7dup	noncoding	Benign
3	149157387	A	AGAGCTGCATTCACCTTCTCAGTGAGGCTCATCTGTTAGTGC	C149157436A	HPS3	NM_032383.5(HPS3):c.1555_1595dup:p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer	coding	Pathogenic
3	149157399	AC	A	C149157401T	HPS3	NM_032383.5(HPS3):c.1561del:p.Leu521fs	coding	Pathogenic
3	149158703	TATAAG	T	A149158706G	HPS3	NM_032383.5(HPS3):c.1732_1736del:p.Lys578fs	coding	Pathogenic
3	149158814	CTT	C	T149158816A	HPS3	NM_032383.5(HPS3):c.1842_1843del:p.Leu614_Tyr615insTer	coding	Pathogenic
3	149158839	TAAATG	T	A149158842G	HPS3	NM_032383.5(HPS3):c.1868_1872del:p.Asn623fs	coding	Pathogenic
3	149160253	AGAAAT	A	T149160263A	HPS3	NM_032383.5(HPS3):c.2090_2094del:p.Met697fs	coding	Pathogenic
3	149162250	C	CA	G149162252A	HPS3	NM_032383.5(HPS3):c.2210dup:p.Pro738fs	coding	Pathogenic
3	149162442	CAG	C	G149162444C	HPS3	NM_032383.5(HPS3):c.2292+111_2292+112del	coding	Benign
3	149162714	AC	A	C149162715A	HPS3	NM_032383.5(HPS3):c.2318del:p.Thr773fs	coding	Pathogenic
3	149162737	CTT	C	T149162740G	HPS3	NM_032383.5(HPS3):c.2343_2344del:p.Phe781fs	coding	Pathogenic
3	149162791	C	CT	C149162797T	HPS3	NM_032383.5(HPS3):c.2399dup:p.Lys801fs	coding	Pathogenic
3	149167075	TC	T	C149167077G	HPS3	NM_032383.5(HPS3):c.2633del:p.Pro878fs	coding	Pathogenic
3	149167176	TG	T	G149167177T	HPS3	NM_032383.5(HPS3):c.2733del:p.Leu911_Leu912insTer	coding	Pathogenic
3	149167179	TAGAG	T	G149167183T	HPS3	NM_032383.5(HPS3):c.2739_2742del:p.Glu913fs	coding	Pathogenic/Likely_pathogenic
3	149167179	T	TA	G149167181A	HPS3	NM_032383.5(HPS3):c.2736dup:p.Glu913fs	coding	Pathogenic
3	149167238	CG	C	G149167241T	HPS3	NM_032383.5(HPS3):c.2796+1del	coding	Pathogenic
3	149167441	TATC	T	C149167447T	HPS3	NM_032383.5(HPS3):c.2796+207_2796+209del	noncoding	Benign
3	149167992	A	ATT	G149168003T	HPS3	NM_032383.5(HPS3):c.2887+18_2887+19dup	noncoding	Benign
3	149172318	TCA	T	C149172355T	HPS3	NM_032383.5(HPS3):c.*97CA[18]	noncoding	Benign
3	149179711	TACACAC	T	C149179745G	CP	NM_000096.4(CP):c.2555-87GT[16]	noncoding	Benign
3	149179711	TACAC	T	C149179747G	CP	NM_000096.4(CP):c.2555-87GT[17]	noncoding	Benign
3	149179711	TAC	T	C149179749G	CP	NM_000096.4(CP):c.2555-87GT[18]	noncoding	Benign
3	149179711	T	TACACAC	G149179751C	CP	NM_000096.4(CP):c.2555-87GT[22]	noncoding	Benign
3	149179711	T	TACAC	G149179751C	CP	NM_000096.4(CP):c.2555-87GT[21]	noncoding	Benign
3	149179711	T	TAC	G149179751C	CP	NM_000096.4(CP):c.2555-87GT[20]	noncoding	Benign
3	149183608	TA	T	A149183619C	CP	NM_000096.4(CP):c.2286-4del	noncoding	Benign
3	149183618	AAC	A	C149183620A	CP	NM_000096.4(CP):c.2286-15_2286-14del	noncoding	Benign
3	149185101	TTTG	T	G149185125A	CP	NM_000096.4(CP):c.2285+114CAA[7]	noncoding	Benign
3	149185142	CT	C	T149185154C	CP	NM_000096.4(CP):c.2285+96del	noncoding	Benign
3	149185591	T	TAGG	C149185592A	CP	NM_000096.4(CP):c.2078-146_2078-145insCCT	noncoding	Benign
3	149188184	AT	A	T149188186C	CP	NM_000096.4(CP):c.1731del:p.Glu577fs	coding	Pathogenic
3	149202131	CCT	C	T149202137C	CP	NM_000096.4(CP):c.1317_1318del:p.Gly440fs	coding	Pathogenic
3	149202251	GA	G	A149202257G	CP	NM_000096.4(CP):c.1209-11del	noncoding	Benign
3	149202251	G	GA	G149202258A	CP	NM_000096.4(CP):c.1209-11dup	noncoding	Benign
3	149210165	AC	A	C149210167T	CP	NM_000096.4(CP):c.607+1del	noncoding	Pathogenic/Likely_pathogenic
3	149212465	TAGTA	T	A149212469T	CP	NM_000096.4(CP):c.376_379del:p.Tyr126fs	coding	Pathogenic
3	149222155	CA	C	A149222158C	CP	Single_allele	noncoding	Benign
3	149960836	ACT	A	C149960839G	RNF13	NM_183381.3(RNF13):c.881_882del:p.Asp293_Ser294insTer	coding	Pathogenic/Likely_pathogenic
3	150928140	TG	T	G150928141A	CLRN1	NM_174878.3(CLRN1):c.494del:p.Leu164_Ser165insTer	coding	Pathogenic
3	150941722	TG	T	G150941724A	CLRN1	NM_174878.3(CLRN1):c.292del:p.His98fs	coding	Pathogenic
3	150972527	AT	A	T150972530C	CLRN1	NM_174878.3(CLRN1):c.181del:p.Met61fs	coding	Pathogenic
3	150972560	G	GGACA	A150972561G	CLRN1	NM_174878.3(CLRN1):c.148_149insTGTC:p.Ser50fs	coding	Pathogenic
3	150972677	C	CA	T150972684A	CLRN1	NM_174878.3(CLRN1):c.31dup:p.Cys11fs	coding	Pathogenic
3	155115094	GA	G	A155115095C	MME	NM_007289.4(MME):c.298del:p.Thr100fs	coding	Pathogenic
3	155115238	AGGAATGT	A	G155115239C	MME	NM_007289.4(MME):c.358+84_358+90del	noncoding	Benign
3	155115419	TTTTG	T	G155115439T	MME	NM_007289.4(MME):c.358+265TTTG[4]	noncoding	Benign
3	155116196	TA	T	A155116210G	MME	NM_007289.4(MME):c.359-269del	noncoding	Benign
3	155116196	T	TA	G155116211A	MME	NM_007289.4(MME):c.359-269dup	noncoding	Benign
3	155116590	G	GTA	T155116608A	MME	NM_007289.4(MME):c.439+32TA[9]	noncoding	Benign
3	155116590	G	GTATATATA	T155116608A	MME	NM_007289.4(MME):c.439+32TA[12]	noncoding	Benign
3	155116590	G	GTATATATATA	T155116608A	MME	NM_007289.4(MME):c.439+32TA[13]	noncoding	Benign
3	155116590	G	GTATATATATATA	T155116608A	MME	NM_007289.4(MME):c.439+32TA[14]	noncoding	Benign
3	155116932	TATTA	T	A155116936T	MME	NM_007289.4(MME):c.604_607del:p.Asn202fs	coding	Pathogenic
3	155116937	ATTTG	A	T155116944G	MME	NM_007289.4(MME):c.612_615del:p.Phe204fs	coding	Pathogenic
3	155118819	GA	G	A155118827T	MME	NM_007289.4(MME):c.720+16del	noncoding	Benign
3	155137933	ACTGT	A	G155137936A	MME	NM_007289.4(MME):c.721-166_721-163del	noncoding	Benign
3	155138172	TC	T	C155138173G	MME	NM_007289.4(MME):c.792del:p.Ile264fs	coding	Pathogenic
3	155140232	G	GTA	A155140237T	MME	NM_007289.4(MME):c.900_901dup:p.Asn301fs	coding	Pathogenic
3	155140260	CA	C	A155140264T	MME	NM_007289.4(MME):c.929del:p.Asn310fs	coding	Pathogenic
3	155142079	CAG	C	G155142081A	MME	NM_007289.4(MME):c.1048_1049del:p.Glu350fs	coding	Pathogenic
3	155143489	CA	C	A155143492C	MME	NM_007289.4(MME):c.1238del:p.Asn413fs	coding	Pathogenic
3	155143566	CAT	C	A155143567G	MME	NM_007289.4(MME):c.1313_1314del:p.His438fs	coding	Pathogenic/Likely_pathogenic
3	155147165	ATCGG	A	T155147166C	MME	NM_007289.4(MME):c.1439_1442del:p.Ile480fs	coding	Pathogenic
3	155148554	A	ATG	C155148555T	MME	NM_007289.4(MME):c.1502_1503insTG:p.Tyr502fs	coding	Pathogenic
3	155160369	GA	G	A155160370G	MME	NM_007289.4(MME):c.1602-20del	noncoding	Benign
3	155166924	G	GC	T155166931C	MME	NM_007289.4(MME):c.1689dup:p.Phe564fs	coding	Pathogenic
3	155168525	AC	A	C155168526T	MME	NM_007289.4(MME):c.1815del:p.Trp606fs	coding	Pathogenic
3	155168803	TA	T	A155168809G	MME	NM_007289.4(MME):c.1980+12del	noncoding	Benign
3	155172722	G	GT	C155172723T	MME	NM_007289.4(MME):c.2153+110_2153+111insT	noncoding	Benign
3	155172723	C	CT	G155172738T	MME	NM_007289.4(MME):c.2153+125dup	noncoding	Benign
3	155482814	CA	C	A155482815G	PLCH1	NM_014996.4(PLCH1):c.3211del:p.Cys1071fs	coding	Pathogenic
3	155828030	C	CA	T155828041A	SLC33A1	NM_004733.4(SLC33A1):c.*179dup	noncoding	Benign
3	155828040	AT	A	T155828041A	SLC33A1	NM_004733.4(SLC33A1):c.*169del	noncoding	Benign
3	158203180	T	TAAAGAGA	G158203199A	RSRC1	NM_001271838.2(RSRC1):c.441_447dup:p.Glu150fs	coding	Pathogenic
3	158644980	GT	G	T158644998G	GFM1	NM_024996.7(GFM1):c.81+283del	noncoding	Benign
3	158644980	GTT	G	T158644997G	GFM1	NM_024996.7(GFM1):c.81+282_81+283del	noncoding	Benign
3	158644980	GTTT	G	T158644996G	GFM1	NM_024996.7(GFM1):c.81+281_81+283del	noncoding	Benign
3	158645635	TGGAAGGCCTGC	T	G158645636C	GFM1	NM_024996.7(GFM1):c.89_99del:p.Trp30fs	coding	Pathogenic
3	158645677	G	GA	T158645684A	GFM1	NM_024996.7(GFM1):c.136dup:p.Ile46fs	coding	Pathogenic
3	158649077	AC	A	C158649080A	GFM1	NM_024996.7(GFM1):c.612del:p.Met205fs	coding	Pathogenic
3	158649116	TC	T	C158649117T	GFM1	NM_024996.7(GFM1):c.649del:p.Ile218fs	coding	Pathogenic
3	158651824	AT	A	T158651834C	GFM1	NM_024996.7(GFM1):c.690-262del	noncoding	Benign
3	158652093	TAGTC	T	T158652096A	GFM1	NM_001374358.1(GFM1):c.235-4_235-1del	noncoding	Pathogenic
3	158652174	TG	T	G158652175T	GFM1	NM_024996.7(GFM1):c.769del:p.Val257fs	coding	Pathogenic
3	158653354	AT	A	T158653359G	GFM1	NM_024996.7(GFM1):c.890del:p.Leu297fs	coding	Pathogenic
3	158653757	T	TA	G158653770A	GFM1	NM_024996.7(GFM1):c.998+302dup	noncoding	Benign
3	158654559	G	GA	C158654564A	GFM1	NM_024996.7(GFM1):c.1015dup:p.Thr339fs	coding	Pathogenic
3	158658933	TGGAC	T	G158658934A	GFM1	NM_024996.7(GFM1):c.1096_1099del:p.Gly366fs	coding	Pathogenic
3	158659005	A	ATT	A158659006T	GFM1	NM_024996.7(GFM1):c.1167_1168insTT:p.Arg390fs	coding	Pathogenic
3	158659007	GA	G	A158659010G	GFM1	NM_024996.7(GFM1):c.1172del:p.Lys391fs	coding	Pathogenic
3	158659054	AT	A	T158659055G	GFM1	NM_024996.7(GFM1):c.1217del:p.Met406fs	coding	Pathogenic
3	158660864	G	GT	A158660872T	GFM1	NM_024996.7(GFM1):c.1222-3dup	noncoding	Benign
3	158660864	GT	G	T158660871A	GFM1	NM_024996.7(GFM1):c.1222-3del	noncoding	Benign
3	158662648	TC	T	C158662650T	GFM1	NM_024996.7(GFM1):c.1346del:p.Pro449fs	coding	Pathogenic
3	158665420	CAA	C	A158665422G	GFM1	NM_024996.7(GFM1):c.1466_1467del:p.Lys489fs	coding	Pathogenic
3	158665465	CT	C	T158665466A	GFM1	NM_024996.7(GFM1):c.1510del:p.Tyr504fs	coding	Pathogenic
3	158666312	AAG	A	A158666317T	GFM1	NM_024996.7(GFM1):c.1532_1533del:p.Glu511fs	coding	Pathogenic/Likely_pathogenic
3	158666379	CCT	C	C158666380G	GFM1	NM_024996.7(GFM1):c.1595_1596del:p.Pro532fs	coding	Pathogenic
3	158681968	A	AT	C158681979T	GFM1	NM_024996.7(GFM1):c.1602-17dup	noncoding	Benign
3	158684522	AG	A	G158684526T	GFM1	NC_000003.11:g.158402312del	noncoding	Pathogenic
3	158684629	ATC	A	C158684633T	GFM1	NM_024996.7(GFM1):c.1874_1875del:p.Ser625fs	coding	Pathogenic
3	158684636	TC	T	C158684637A	GFM1	NM_024996.7(GFM1):c.1878del:p.Phe626fs	coding	Pathogenic
3	158690316	AT	A	T158690317G	GFM1	NM_024996.7(GFM1):c.2064del:p.Leu687_Tyr688insTer	coding	Pathogenic
3	158691304	C	CA	C158691311A	GFM1	NM_024996.7(GFM1):c.2125-26dup	noncoding	Benign
3	160258644	G	GAA	G160258655A	IFT80	NM_020800.3(IFT80):c.2224-19_2224-18dup	noncoding	Benign
3	160279069	TA	T	A160279076G	IFT80	NM_020800.3(IFT80):c.1836+123del	noncoding	Benign
3	160279370	GA	G	A160279379G	IFT80	NM_020800.3(IFT80):c.1665-7del	noncoding	Benign
3	160279370	G	GA	G160279380A	IFT80	NM_020800.3(IFT80):c.1665-7dup	noncoding	Benign
3	160282605	GA	G	A160282606T	IFT80	NM_020800.3(IFT80):c.1388del:p.Ile463fs	coding	Pathogenic
3	160282619	A	AT	A160282628T	IFT80	NM_020800.3(IFT80):c.1381-14dup	noncoding	Benign
3	160307672	TA	T	A160307674C	IFT80	NM_020800.3(IFT80):c.1066del:p.Tyr356fs	coding	Pathogenic
3	160307766	T	TAAAAAAAANNNNNNNN	G160307769A	IFT80	NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT:p.Asn325delinsXaaXaaXaaPhePheTer	coding	Pathogenic
3	160319817	TTC	T	T160319818C	IFT80	NM_020800.3(IFT80):c.898_899del:p.Glu300fs	coding	Pathogenic
3	160357487	AC	A	C160357489T	IFT80	NM_020800.3(IFT80):c.639+1del	noncoding	Pathogenic
3	160357497	TAC	T	C160357499G	IFT80	NM_020800.3(IFT80):c.629_630del:p.Asp209_Cys210insTer	coding	Pathogenic
3	160366169	GA	G	A160366179G	IFT80	NM_020800.3(IFT80):c.440-18del	noncoding	Benign
3	160366169	G	GA	G160366180A	IFT80	NM_020800.3(IFT80):c.440-27dup	noncoding	Benign
3	160375890	GA	G	A160375899T	IFT80	NM_020800.3(IFT80):c.371-11del	noncoding	Benign
3	160381536	G	GGGTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A160381550T	IFT80	NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC:p.Gln76fs	coding	Pathogenic
3	160381867	A	AT	C160381875T	IFT80	NM_020800.3(IFT80):c.38-150dup	noncoding	Benign
3	164983063	G	GA	T164983072A	SI	NM_001041.4(SI):c.5198-20dup	noncoding	Benign
3	164996541	AT	A	T164996544G	SI	NM_001041.4(SI):c.4685del:p.Asn1562fs	coding	Pathogenic
3	165017677	TA	T	A165017685T	SI	NM_001041.4(SI):c.3634-5del	noncoding	Benign
3	165017677	T	TA	T165017686A	SI	NM_001041.4(SI):c.3634-5dup	noncoding	Benign
3	165030877	CAA	C	A165030889G	SI	NM_001041.4(SI):c.2737-12_2737-11del	noncoding	Benign
3	165030877	CA	C	A165030890G	SI	NM_001041.4(SI):c.2737-11del	noncoding	Benign
3	165032600	ACTGT	A	T165032606A	SI	NM_001041.4(SI):c.2654_2657del:p.Asp885fs	coding	Pathogenic
3	165032608	T	TCAACCCAAGGATTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGC	A165032625T	SI	NM_001041.4(SI):c.2649_2650insGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATCCTTGGGTTG:p.Thr884delinsAlaGlyArgSerGlySerArgLeuTer	coding	Pathogenic
3	165041073	C	CA	T165041080A	SI	NM_001041.4(SI):c.2025dup:p.Gly676fs	coding	Pathogenic
3	165043122	TC	T	C165043123T	SI	NM_001041.4(SI):c.1940del:p.Arg647fs	coding	Pathogenic
3	165043126	CA	C	A165043129G	SI	NM_001041.4(SI):c.1936del:p.Cys646fs	coding	Pathogenic
3	165047020	TA	T	A165047024C	SI	NM_001041.4(SI):c.1716-9del	noncoding	Benign
3	165059125	C	CAT	G165059126A	SI	NM_001041.4(SI):c.1278+42_1278+43insAT	noncoding	Benign
3	165063461	T	TA	C165063469A	SI	NM_001041.4(SI):c.887dup:p.Leu296fs	coding	Pathogenic
3	165065274	TG	T	G165065276T	SI	NM_001041.4(SI):c.793del:p.Gln265fs	coding	Pathogenic
3	165065450	TAAAG	T	G165065454T	SI	NM_001041.4(SI):c.636-22_636-19del	noncoding	Benign
3	165068841	T	TA	G165068850A	SI	NM_001041.4(SI):c.374-11dup	noncoding	Benign
3	165074677	G	GA	C165074684A	SI	NM_001041.4(SI):c.119-11dup	noncoding	Benign
3	167684362	G	GT	G167684365T	PDCD10	NM_007217.4(PDCD10):c.584dup:p.Asn195fs	coding	Pathogenic
3	167684367	CACTT	C	T167684370G	PDCD10	NM_007217.4(PDCD10):c.576_579del:p.Ser193fs	coding	Pathogenic
3	167684371	T	TA	C167684373A	PDCD10	NM_007217.4(PDCD10):c.575dup:p.Ser193fs	coding	Pathogenic/Likely_pathogenic
3	167687262	TATCACTG	T	T167687264A	PDCD10	NM_007217.4(PDCD10):c.522_528del:p.Phe174fs	coding	Pathogenic
3	167687326	CA	C	A167687330T	PDCD10	NM_007217.4(PDCD10):c.475-11del	noncoding	Benign
3	167687645	GAC	G	C167687647T	PDCD10	NM_007217.4(PDCD10):c.442_443del:p.Val148fs	coding	Pathogenic
3	167695390	ATTG	A	G167695396T	PDCD10	NM_007217.4(PDCD10):c.395+203_395+205del	noncoding	Benign
3	167695653	ATTTG	A	G167695657A	PDCD10	NM_007217.4(PDCD10):c.334_337del:p.Gln112fs	coding	Pathogenic
3	167695657	GT	G	T167695660A	PDCD10	NM_007217.4(PDCD10):c.333del:p.Lys111fs	coding	Pathogenic
3	167695981	TA	T	A167695993C	PDCD10	NM_007217.4(PDCD10):c.269-260del	noncoding	Benign
3	167697065	C	CT	C167697073T	PDCD10	NM_007217.4(PDCD10):c.211dup:p.Ser71fs	coding	Pathogenic
3	167697065	CT	C	T167697072C	PDCD10	NM_007217.4(PDCD10):c.211del:p.Ser71fs	coding	Pathogenic
3	167697112	AT	A	T167697116C	PDCD10	NM_007217.4(PDCD10):c.164del:p.Asn55fs	coding	Pathogenic
3	167697115	TTC	T	C167697117T	PDCD10	NM_007217.4(PDCD10):c.160_161del:p.Glu54fs	coding	Pathogenic
3	167704556	GA	G	A167704569C	PDCD10	NM_007217.4(PDCD10):c.150+285del	noncoding	Benign
3	167704556	G	GA	C167704570A	PDCD10	NM_007217.4(PDCD10):c.150+273dup	noncoding	Benign
3	167704860	C	CAA	G167704862A	PDCD10	NM_007217.4(PDCD10):c.131_132insTT:p.Leu44_Arg45insTer	coding	Pathogenic
3	167704860	C	CA	G167704862A	PDCD10	NM_007217.4(PDCD10):c.131dup:p.Arg45fs	coding	Pathogenic
3	167720086	TGCATAGAGGG	T	G167720094A	PDCD10	NM_007217.4(PDCD10):c.62_71del:p.Pro21fs	coding	Pathogenic
3	167720137	CTCTTCCATTGTCATCCTCATTCAAAAGCCAACTACAGTTGAAAAAGCAGTGCTAAAATGCAGAGGAATCTTCATTCACTGCAATATTTCTTCTCTTTTTTGGTGATAAAAGAATTGGACACAAAAAACACACTGATCTGGTGAAAGAGGAAGAAAGAACAGAGACTTACTATATTAAGGAGAAACGACAAATACCAATAATTTTCCTTTCCAAATTACAGAGTTCCTATTTTATGAAAAGCTATTTTTTAATATATTCTACTTGTGAAAGCAAACCTAGTTGGCAAGAAACTTACCTTTTCCTCCAAAGACTCAACAACTGCCCTTTCCTAAAGTCCTTGGTTAGGTACTACTTCACAAAGCAGTGACTTAAGACGCTGCTTAACCTGAACTCAGAGAGCTCTCTATGAAGCACCATGGAATAATGATGTATGTCATGCCACCATATACAATCTAAGAGAACATATGAATAAGACACATACTTATAATATTTATACATAATATAAAATTATAATCAGGAAATGCATGATGTGTAAGTGTGTGCAGAAAACCAAATCGAAGAATCAATAAAGAAGAAAGAACTAGGGTGTTTTAACATTTTTATTAAAACCTTTTTGCTACTTGTTTATTGATTTTGTCACCTGAAAATAACACAAACATAACAAGCACCAAATATGTCAAACATAAAATTGAAAAAAATTCTACCAAATGTGATCCACTTGGTAAAATACTTGCTACTTAATTGTGCCAGTGATACCTTCTGGTATTTAGAAGAACTACAGAAATTGTTGTCCAAATCTGACATAAAAAGTGAGAAAGAAGAAAAACCCAGAGGCTGGTAGTTTGGATTAAAATCAAGAATTCAACAATAAAAGAAATTTTGCCTTGAGGTGTTAAGGAAATATGTTAGTTTTTAAAGAGAATACAACTATATATTTCCTTTACTATGGTTTAAAAAAATGATCCTAATCATGAAGTGAATAACAGTAGTGACATACATATATTAAACAAAAAGCCATTTTTTGATTAATTTCTACTACTTGTAAAGCATTTTCATAGTATAAAACATTTTGCACATGCATTTAGTCCTATAATAACTTGCTTTAAAAAACTGCAATTCTAATTTTACAAGTGTAAAGCAGGCTCAGAGATAATAAATAACTTGCCCAAGATCACACAGGTAGAGACCCAAGACTTGATCCCAGGACTCTGAATACAGATCTTATACTCTCACATAACAAAACCAAATTTGAAGTGGAAATAAAGAACCCCACCTCATCTACTCAAGAAAAGTACCCAGAATTTATTATTCACTCAACATGTTCAGAGTATGTTTAACACTGCTAGGTATGAAGTGCAGTTCCTAATCATTAAAAATTTATCTGTGCCAGAATGTGTAAGACCTAACAAGACTGAAAGATACAATCAAAGGCCTGCAGTGACGCTTCAAAAAGCTCCAATAACCTGTTCCATTGGAAAGCTGCTTAGTATTCCACCATATCGCTACCAGTGAAAGGGAACTCAACACCTACGGAAACTGTTTAGTCCCATTTCTGACAGTTCTAAACATCAAAGAGTTTTCCTGTTTCTCACCTGAAACCTACTCCATGACTTGACAGAACAAAAAGAGCAAAAGGCGAATTCCTGAATTTCATTCTATGGGGAAAAAGAATACCATTACCTGATTATGTAACTTAGTTAAGTAGATGGCTTTGGTCACAGCATGATGGAGAGAATGGAGGAAGAATAACGACAAGGAAAACTTAACAGACTCAGTATACCTATGTCAGAAATAAACAAGACCAAAATAATAAGCAAAAAGAAGTAGATAAATACCAATTGTGGCCCTGCTGTTCCTATTTAGCTACTTAAGTCACTTGGTAATCTGCTTTTCCACTTCAAAATAAATTGGGAAAACTTCATAATAAAAAAAACCTGGGGAAAAGGAGGATGGCTAAAAGGCAGTGGTATCAGTTAAAATGAAAAGGACAGAATGAATGCAGAATATAGACAGCAGCAGAAGGCATGGTATCATCAATGAAAAATCAAGTAAGAAATGGCAAAACAAAACCAAGAACAGACCTTGAAGAGCTCTCATTGTGTGACAGAAAAAAAATTATTTATTTAATAAATATTTCAATGGTCACAAAGAGGCACGGTATTAAATATAGAGCAGTGAACAAGACAAGACAGTCTCTGACCCCATTAAACGTGTTTTATAAAAGGAAAGTCAGAAAACATACAACTGTGGTGCGCACAAAAGGGAGAAGTCAGGCTGCTATATCGCTACAGGAGAACTGGAGAAAACCAGCATCACGAAACAAGTTTCAAGAAGAAGGTAGCCAAAAGTTTTAAGTGCTACTGAGTATGGAAAGTAACTTTTAAAAAATTATTTGATTTCTTGATGAGGTTAAAGCGGTAACCTTCAAAGAGCGGAGTACTTATATACTGGGGTGAGAAATCCCTGCAGGGGCTAAGAGAGTGAGCTGGTAAGTTTTCAAGAATCTCGGTATAAAGGAGGTGAAATACTTATGAGAAAAGTAAGCACAATGGAATTACTCTTGTGTTTCACTCTTTTGAACACATACGCATATAACTGCAGATGTACAGGCTGCCAGAGGTAAAGGGATAAGGTAAGTGGCCAGAGTCACTTTCAGAATTACTGCTGACATCTCTACCTACCTACCCCCTATAAACCTACTCAAATACTTAATTTTTACCTTTTGTAAATACTGGCATTTAATATTTTTAAAACTCATGTTTAATAAATAGTCTCTTCTCTAAAACTAACTTTACAGTACTTATTTGTCAACAAAAAGAACAGTATTTTGGCAACATCATGGGCTACATAAGTGGCTGGCCTATGGCATACATGCCATCTTTTAATACTGTTCTTATGAAAAATGCTCCAAAGAACCAATTTAAAACTGAACTTTTTAGAACACACATTAACAACTGGGGCCACTCAGTTTCAGTAGCATTTACATGAGATTAGAAATCAACAATTCCAATACGGCTTTTAAAATATTGAATTACTGTCAATTTCAACTTCGAGTTAAAATATGCCTTTGTCATTCCTTCCGCATGCTTCTTCATTTGAAATAGTTCAAGGGACAACCTGCAATTACCCCATGCAACAAAGAGCCTGCTATGGAAACAGCAAGGGTTGGCTGAGCTGAGTGAGGTCTGAGGCCCCCTTTGACAAGGTGCCTTCCTTTTAGGATGAGTGTGACCAAGTCCCGGCAGCTGGGTAGCACATTAACAAAATTTCAACCCTCTAAGGTACACTATTTTCTGGAGTAGGTGCTGATTATGCACATACAGAAAACTGAAGATCACTGACTACAAATCCCACATCTGAAATGGCCTTAAAAAGTTATTTCACCCATTTCACTACCTACAGCAGAAACCGAAGTACAAAAAGGATGTAGTGACTTGCTCCTGGTCACAACATCTAGCTAATAATTAAATACATAATAAAAATGTAATGTTGGTATGATAACAACATAGCAAGAACTTTACGTCTCACGTTTCAAATGTGCTGCTTTGCAGGGAAATCTTCAGTTCAAAGTAAGCTTTGTGTACTGTTGGCATCCACAAAATAAAAACCAAGAACAAGAAATGTTGAAAGAACCTAGACAAAAGGCATACTTTTAAACACACTTTTCTTCAAAAACACCCATTGTGATATTGGGATATCAACACAGAGTATAAGCAATCTTCTCACTTATAATTTACCCCTCATTTTCTTGAATATTCAAAATAGCACTGCTAATTTTTAACAGAAGATAATCAGCTTTAAATATCTTCCTGAGCTGAAGATAATTATCACTTGCTTAGAGTAAGAAGCCCAAAAACAGGTATTCGCCACTCCGCTGCCAAACTCTTAAATCTTTGGTGTTTCTGCCCTCCCTAACCAACTCGAGTCTGCTCATTTAAAGAGCCACACATGGGTATATCTCAGGGCTCAGAATCAGTATTTCCTGAAACTGCCTTACTTTACTCCATCTGGGACTTGAGATAAGTCTAGAGCCAAAGCTATTTACTATCAAATGAAAGGAGAGGAACAACAGAAGCTCTTGGTACTGGTATAGGCACTTCTCAGTTAGAAAAACAGCTTTTTAAGTAATTCTACACTTAAAACGTTTGTAGGCAGGCAGGTCTTTTTGTCTTGCTTTTCTCTCTAGTAAAATCCAGTACTCAGCCCTCTTGGCCCTAAATTCTTATAATTCCTATAATTTCTCTCTCTAAAAAGGGAAAGATTGATTGACTGACTGATGTATGCTGGATCTCCAACAAATGTGCATGAACATTCAGTTAAGAGAAGTGTGTTCATTCTAGCAGTGAGCAGAATCCTGTGTTTATGTTCCCATTTATAAGTGTGTTTCTTCTTCCCAATAGAGACATTACAGTCAGCATAGCGGGCACATAACAGACACTTAATGTTTGCTGAATGACCAAATTCATGAGTTGAGATGGGCAATTTATAAATTGAATCAGTCTTGCTAATATACTTTTCAAATAGCATGCCTAGCAAAATAAAAACAAACACAAAAATCAAATTAATTCTATTAACAAAGCCTGGACCCAGCCACATTATCACTGGAACCAAAATTCAGTGATAATAAGACTTCATTATTGTTATCAGCTATACTTTCCAAAGTAATCTAATAGGAATTTCTTTAAGACAAATTTTTCTTTAAGCATCAAATCATTAAAAATTATTTACAAATTCTAATTAAGGAGGTCCTCCCCAAGAGTTGGTTAACCCAGGATTTCAATTAACTGACAATTCCTTGCTTTCTCTCAATAATATAACACAGAGAATCATACTCATCAGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACATAAACTAGCCAGATGCGGTGGTGGGCTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGGGAATTGCTTGGACCTGGAAGGCGGAAGTTGCAGTGAGTCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAATCACTCATCAAACTCTTAGAGAAAATGGATTTTTACAAAGACTGTATAGATGGTAGTCTGGCCATTTAACAAAGCGGGGTGGGGTTAACATTTGCTGACACAGTTTACGTACCTTTTTAGGGCTTTCTCATGCCAAAATGCTGTTAGTCACTTCCAAACAAGAGACCAAGATTTAGAGGAGAAAGCTAGGAAAAAGGGAGGCAGAGGAATAGGGTAAGTCAGTGATCCTACTTAGAGTAAAATGAGCTTGATGTCTTAAGGATATACCTACATCTCTCTCCTTGACTTGCAAATTACATCTTCTATAATTCAATGTCTTCCATTTCCAGTTTTCTTAATAAAGTTAAGTGGAACCTAACCTCCCTGAACATACACTACTGTCAGTTTAGTACTTACAGAATTTTACACTTAGGGACATCTAGAAGCAATCTCTTGTTAATGGTAAGTGTATATAGCACTTTACCATTGTATCGTTTATATATATATATATATATATATATATATATATATATATATATATATATGCTTTAAAAATATTAAATGGACAATTTGTGCAGAAAGATACAGGGAAAAAGCATAAGCATTTAAAGTCTCAAAGCATGGGCTCAAATTCTGGTCCTGTCATTCATAAACTATCTTTGTCTCTGAACAAGTCATTTCACCTCTCTATCCTTTGGTTTCTTCTTTAATATGTCTGACAACTCTAGGGTACTTAGCAGCACAAGCTTGTGGATCTTCAACTTGGTGCTGCTGAGACTTCCAGCTCATCTTAAAAGTTAACTGCACCATGTCAAGTGTATGCACTTACATATTTTGTAGAGTACTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGTACCTCCACCCAGGTTCAAGCGATTCCCCTTCCTCAGCCTCTCGAGTACTGGGATTATAGGCACCTGCCACCACGCCTGGCTATTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGTCAGTTTGGTTTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAGAGTACTGTTTCTTAATACAGAAATTTATAAAATGGGTAAGAAGTAACTTTTTCTACACATAGATAGACAGTATACAGCAGGAGATAGTGCTCAGTTTGGAAGGAAAAAAACCTCAGTTTGAATTTTTGCTCAGCTGGATGCTATCATTTCAGTTTTGTAAATCTCTATTTCTAAACTAGTGAGAAACAGAAATACTGAAGTACTCACTTCCCCAGATTAAGAGTACTAACTGCATATAAAATAGTTACTACAGTGGCTAACACATAATAACCATTCTATTCATATTGTTATTAATATTTTAGCCAAAATTCTAGGAACCTGACATGGAATCGATTGCAACTAGGGTGAGGCAAACCAGATGCCTAGAACACAAAATTTTGCTCTGATTTGCATGACTGAGAGAGTTAGTGCTTCTTCAAAGTTTGTACCCTAGGCATATCTCTTGCCTCACCCTAGTCCTGCCCCTGCATAACATACACAATGAGAGTCAAACACTGATATCACAATGTCATAAAGGCCACCTACATAGCATATTTTCAAAACCTTTTATCTCCCATTTGCCAAAATGGATGCATAAATACACTTAGTTTTGGCTTACATAAAAGAATTTGGCCATCAGGTGCATTTTAAAACTTTTTGCCAAACCAATGTTAAAATTACTTTTCTAAATGTACATAGATAAACTTAACAAAGGAAACCATGGCCCAGAAGCAGGCTGGGTAGCAGGCTGGGTTGCACACTGAAATCAAGATGTGATCAAAGCCCTTGAGATAATTCATAAAAGGTTTATAATCTGTACAAGATAATCAAAAGTTGACAACAAAATTAAAGAGCTCATTACCTCAGAATTAGCTGATGGGAAATGGAAACAGTAACAAAATAGTAACAATTGGCTCCTACGATATTTCAAAGCAACTTGTTCAGGGGGAAAAACATACATCTCTTTAGTTGTGACAATCCTCATTTTTTTTTCCTATGTCTAAATTTTTGGTAAATTCTGATCTGAGTAAAATTTAAATGAAAACACTTGTTGGAAGACAGGAAACAAATCTGTCCCCTTGAATATGTTCATCTTTTGCCCATAAAGTTCTCAACCTAATGGTTCATGAATAATGCCTAGTTGAATAGTTGTTTGGTGTTTAATTGAGGTACATGTCTATTTTCCTTTTTATTAGTATTATTCCTTGTCTTAGTTTCTCCAATACGATGTTAATTAAAGCTTTCCTTTAAAATCCCTTAGAAATTCAACTAAACTTAATTCCTCAGAGTGTTAGGTCCTCTCTGCTTAAAGGTACA	C	T167720138A	PDCD10	NM_007217.4(PDCD10):c.-117+6518_20del	coding	Pathogenic
3	167792388	CAT	C	A167792399G	SERPINI1	NM_001122752.2(SERPINI1):c.482-201AT[5]	noncoding	Benign
3	167792403	A	AGTGTGTGT	A167792414G	SERPINI1	NM_001122752.2(SERPINI1):c.482-186GT[9]	noncoding	Benign
3	167792574	A	AT	C167792581T	SERPINI1	NM_001122752.2(SERPINI1):c.482-10dup	noncoding	Benign
3	167794950	G	GTTCTTCTCCTTCTCT	C167794970T	SERPINI1	NM_001122752.2(SERPINI1):c.881+131_881+145dup	noncoding	Benign
3	169116179	AG	A	G169116181A	MECOM	NM_004991.4(MECOM):c.1692del:p.Ser565fs	coding	Pathogenic
3	169764947	AAGTC	A	T169764950C	TERC	NR_001566.1(TERC):n.110_113del	noncoding	Pathogenic
3	169764993	AC	A	C169764994G	TERC	NR_001566.1(TERC):n.67del	noncoding	Pathogenic
3	169765003	CAGTT	C	T169765006G	TERC	NR_001566.1(TERC):n.54_57del	noncoding	Pathogenic
3	170998286	GA	G	A170998291C	SLC2A2	NM_000340.2(SLC2A2):c.1280del:p.Phe427fs	coding	Pathogenic
3	171002592	AC	A	C171002594A	SLC2A2	NM_000340.2(SLC2A2):c.1051del:p.Val351fs	coding	Pathogenic
3	171005043	TG	T	G171005044C	SLC2A2	NM_000340.2(SLC2A2):c.963+241del	noncoding	Benign
3	171006302	G	GT	A171006310T	SLC2A2	NM_000340.2(SLC2A2):c.613-204dup	noncoding	Benign
3	171009912	G	GGT	A171009952T	SLC2A2	NM_000340.2(SLC2A2):c.496+8AC[20]	noncoding	Benign
3	171009912	G	GGTGT	A171009952T	SLC2A2	NM_000340.2(SLC2A2):c.496+8AC[21]	noncoding	Benign
3	171009912	G	GGTGTGT	A171009952T	SLC2A2	NM_000340.2(SLC2A2):c.496+8AC[22]	noncoding	Benign
3	171009912	GGT	G	T171009950A	SLC2A2	NM_000340.2(SLC2A2):c.496+8AC[18]	noncoding	Benign
3	171009915	GTGT	G	T171009916G	SLC2A2	NM_000340.2(SLC2A2):c.496+40_496+42del	noncoding	Benign
3	171009950	T	TGTGA	A171009952T	SLC2A2	NM_000340.2(SLC2A2):c.496+7_496+8insCTCA	noncoding	Benign/Likely_benign
3	171014695	GA	G	A171014697C	SLC2A2	NM_000340.2(SLC2A2):c.144del:p.Pro49fs	coding	Pathogenic
3	171014702	CA	C	A171014706C	SLC2A2	NM_000340.2(SLC2A2):c.137del:p.Leu46fs	coding	Pathogenic
3	171018346	C	CT	G171018347T	SLC2A2	NM_000340.2(SLC2A2):c.108+184_108+185insA	noncoding	Benign
3	171676541	CT	C	T171676550G	PLD1	NM_002662.5(PLD1):c.2115+173del	noncoding	Benign
3	171700034	T	TTCTCTC	C171700055T	PLD1	NM_002662.5(PLD1):c.1146-228GA[13]	noncoding	Benign
3	171724960	AG	A	G171724961A	PLD1	NM_002662.5(PLD1):c.666-173del	noncoding	Benign
3	171737661	TA	T	A171737671G	PLD1	NM_002662.5(PLD1):c.161-3del	noncoding	Benign
3	172447387	GGA	G	G172447398C	GHSR	NM_198407.2(GHSR):c.796+219TC[5]	noncoding	Benign
3	177025541	TAATC	T	T177025544C	TBL1XR1	NM_024665.7(TBL1XR1):c.1519-21_1519-18del	noncoding	Benign
3	177026243	GA	G	A177026254T	TBL1XR1	NM_024665.7(TBL1XR1):c.1518+129del	noncoding	Benign
3	177026485	G	GAA	C177026491A	TBL1XR1	NM_024665.7(TBL1XR1):c.1417-16_1417-15dup	noncoding	Benign/Likely_benign
3	177032758	CAATAATA	C	T177032768A	TBL1XR1	NM_024665.7(TBL1XR1):c.1416+206_1416+212del	noncoding	Benign
3	177034258	AT	A	T177034259A	TBL1XR1	NM_024665.7(TBL1XR1):c.1189del:p.Ile397fs	coding	Pathogenic
3	177034511	T	TA	G177034522A	TBL1XR1	NM_024665.7(TBL1XR1):c.1123-196dup	noncoding	Benign
3	177046208	GA	G	A177046213T	TBL1XR1	NM_024665.7(TBL1XR1):c.865-20del	noncoding	Benign
3	177049879	GTTACTA	G	T177049880G	TBL1XR1	NM_024665.7(TBL1XR1):c.702+112_702+117del	noncoding	Benign
3	177049885	A	AGG	T177049887G	TBL1XR1	NM_024665.7(TBL1XR1):c.702+111_702+112insCC	noncoding	Benign
3	177050098	TCTCA	T	C177050101A	TBL1XR1	NM_024665.7(TBL1XR1):c.597_600del:p.Ser199fs	coding	Pathogenic
3	177051511	A	AG	T177051513G	TBL1XR1	NM_024665.7(TBL1XR1):c.419dup:p.Ile141fs	coding	Pathogenic
3	177053912	G	GA	T177053917A	TBL1XR1	NM_024665.7(TBL1XR1):c.64dup:p.Ser22fs	coding	Pathogenic
3	177054045	CGT	C	T177054073C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-155AC[13]	noncoding	Benign
3	177054045	CGTGT	C	T177054071C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-155AC[12]	noncoding	Benign
3	177054045	CGTGTGT	C	T177054069C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-155AC[11]	noncoding	Benign
3	177054073	T	TGC	T177054083C	TBL1XR1	NM_024665.7(TBL1XR1):c.59-163GC[5]	noncoding	Benign
3	177054073	T	TGTGC	C177054075T	TBL1XR1	NM_024665.7(TBL1XR1):c.59-156_59-155insCGCA	noncoding	Benign
3	177054073	T	TGTGTGC	C177054075T	TBL1XR1	NM_024665.7(TBL1XR1):c.59-156_59-155insCGCACA	noncoding	Benign
3	177064727	T	TTG	T177064731G	TBL1XR1	NM_024665.7(TBL1XR1):c.58+191_58+192dup	noncoding	Benign
3	177064936	TC	T	C177064937T	TBL1XR1	NM_024665.7(TBL1XR1):c.41del:p.Arg14fs	coding	Pathogenic
3	179199300	C	CATT	A179199303T	PIK3CA	NM_006218.4(PIK3CA):c.352+125_352+126insTAT	noncoding	Benign
3	179199974	C	CT	C179199988T	PIK3CA	NM_006218.4(PIK3CA):c.562+88dup	noncoding	Benign
3	179201405	GA	G	A179201412C	PIK3CA	NM_006218.4(PIK3CA):c.685del:p.Thr229fs	coding	Pathogenic
3	179203260	C	CT	G179203268T	PIK3CA	NM_006218.4(PIK3CA):c.814-277dup	noncoding	Benign
3	179203465	G	GTAAA	G179203468A	PIK3CA	NM_006218.4(PIK3CA):c.814-77_814-76insAATA	noncoding	Benign
3	179210060	AT	A	T179210072A	PIK3CA	NM_006218.4(PIK3CA):c.1252-114del	noncoding	Benign
3	179210275	AGTACCTCATGGAT	A	G179210276T	PIK3CA	NM_006218.4(PIK3CA):c.1342_1354del:p.Pro447_Val448insTer	coding	Pathogenic
3	179218305	GC	TA	G179218305T	PIK3CA	NM_006218.4(PIK3CA):c.1635_1636delinsTA:p.Glu545_Gln546delinsAspLys	coding	Pathogenic
3	179224065	C	CT	A179224075T	PIK3CA	NM_006218.4(PIK3CA):c.2188-7dup	noncoding	Benign
3	179224479	CT	C	T179224480A	PIK3CA	NM_006218.4(PIK3CA):c.2295-220del	noncoding	Benign
3	179224481	ATAT	A	T179224482A	PIK3CA	NM_006218.4(PIK3CA):c.2295-218_2295-216del	noncoding	Benign
3	179226199	T	TACTTG	A179226204G	PIK3CA	NM_006218.4(PIK3CA):c.2495+163_2495+164insGACTT	noncoding	Benign
3	179234359	AACT	CTGATAACTGAGAAAATAACTGATAAAATGAAACTGA	A179234359C	PIK3CA	NM_006218.4(PIK3CA):c.3202_3205delinsCTGATAACTGAGAAAATAACTGATAAAATGAAACTGA:p.Asn1068_Ter1069delinsLeuIleThrGluLysIleThrAspLysMetLysLeuArg	coding	Pathogenic
3	179401322	G	GA	T179401332A	GNB4	NM_021629.4(GNB4):c.917-12dup	noncoding	Benign/Likely_benign
3	179401445	AAAT	A	A179401455T	GNB4	NM_021629.4(GNB4):c.917-138ATT[3]	noncoding	Benign
3	179401445	AAATAAT	A	A179401452T	GNB4	NM_021629.4(GNB4):c.917-138ATT[2]	noncoding	Benign
3	179401466	AAAC	A	C179401472A	GNB4	NM_021629.4(GNB4):c.917-150_917-148del	noncoding	Benign
3	179405179	T	TC	A179405180C	GNB4	NM_021629.4(GNB4):c.916+10_916+11insG	noncoding	Benign/Likely_benign
3	179414727	C	CTA	A179414732T	GNB4	NM_021629.4(GNB4):c.430+154TA[3]	noncoding	Benign
3	179420769	CAG	C	G179420773T	GNB4	NM_021629.4(GNB4):c.96+118_96+119del	noncoding	Benign
3	180616555	ATTTTC	A	T180616558C	CCDC39	NM_181426.2(CCDC39):c.2542_2546del:p.Glu848fs	coding	Pathogenic
3	180619652	GA	G	A180619661T	CCDC39	NM_181426.2(CCDC39):c.2158+158del	noncoding	Benign
3	180619907	C	CT	G180619911T	CCDC39	NM_181426.2(CCDC39):c.2061dup:p.Ala688fs	coding	Pathogenic
3	180619925	CCAAA	C	A180619928G	CCDC39	NM_181426.2(CCDC39):c.2040_2043del:p.Cys680fs	coding	Pathogenic
3	180631251	A	ATATAGAATG	A180631261T	CCDC39	NM_181426.2(CCDC39):c.1998+209_1998+217dup	noncoding	Benign
3	180631498	CCTCTT	C	T180631502C	CCDC39	NM_181426.2(CCDC39):c.1964_1968del:p.Glu655fs	coding	Pathogenic
3	180631565	TTTAC	T	C180631569G	CCDC39	NM_181426.2(CCDC39):c.1898_1901del:p.Ser633fs	coding	Pathogenic
3	180642191	A	ATC	A180642194T	CCDC39	NM_181426.2(CCDC39):c.1674_1675dup:p.Ile559fs	coding	Pathogenic
3	180642353	G	GT	C180642365T	CCDC39	NM_181426.2(CCDC39):c.1666-163dup	noncoding	Benign
3	180644152	TCTCTGATC	T	C180644153T	CCDC39	NM_181426.2(CCDC39):c.1625_1632del:p.Arg542fs	coding	Pathogenic
3	180644240	GATAAA	G	A180644246G	CCDC39	NM_181426.2(CCDC39):c.1540_1544del:p.Phe514fs	coding	Pathogenic
3	180647120	A	AT	C180647127T	CCDC39	NM_181426.2(CCDC39):c.1485dup:p.Ser496fs	coding	Pathogenic
3	180647149	T	TC	A180647151C	CCDC39	NM_181426.2(CCDC39):c.1456dup:p.Glu486fs	coding	Pathogenic
3	180647255	TA	T	A180647266G	CCDC39	NM_181426.2(CCDC39):c.1363-13del	noncoding	Benign/Likely_benign
3	180648318	A	AAACAGCACACCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCAACAGCACACC	A180648334T	CCDC39	NM_181426.2(CCDC39):c.1208_1209insGGTGTGCTGTTGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGTGTGCTGTT:p.Phe403fs	coding	Pathogenic
3	180654624	TA	T	A180654637G	CCDC39	NM_181426.2(CCDC39):c.930+137del	noncoding	Benign
3	180654645	G	GA	C180654660A	CCDC39	NM_181426.2(CCDC39):c.930+103dup	noncoding	Benign
3	180660649	CA	C	A180660650G	CCDC39	NM_181426.2(CCDC39):c.436del:p.Trp146fs	coding	Pathogenic
3	180662000	CAA	C	A180662002G	CCDC39	NM_181426.2(CCDC39):c.216_217del:p.Cys73fs	coding	Pathogenic
3	180663669	CA	C	A180663685T	CCDC39	NM_181426.2(CCDC39):c.210+197del	noncoding	Benign
3	180663669	C	CA	T180663686A	CCDC39	NM_181426.2(CCDC39):c.210+182dup	noncoding	Benign
3	180984724	G	GA	G180984731A	DNAJC19	NM_145261.4(DNAJC19):c.281-15dup	noncoding	Benign
3	180988089	G	GT	A180988091T	DNAJC19	NM_145261.4(DNAJC19):c.62dup:p.Tyr21Ter	coding	Pathogenic
3	180988353	C	CT	A180988373T	DNAJC19	NM_145261.4(DNAJC19):c.4-143dup	noncoding	Benign
3	180988357	T	TC	T180988358C	DNAJC19	NM_145261.4(DNAJC19):c.4-129_4-128insG	noncoding	Benign
3	181712459	C	CCAGAAAAA	C181712471A	SOX2	NM_003106.4(SOX2):c.103_110dup:p.Ser37fs	coding	Pathogenic
3	181712529	CG	C	G181712530C	SOX2;SOX2-OT	NM_003106.4(SOX2):c.170del:p.Arg57fs	coding	Pathogenic
3	181712534	GA	G	A181712535T	SOX2	NM_003106.4(SOX2):c.175del:p.Met59fs	coding	Pathogenic
3	181712615	GG	T	G181712615T	SOX2	NM_003106.4(SOX2):c.255_256delinsT:p.Glu86fs	coding	Pathogenic
3	181712757	G	GC	G181712763C	SOX2	NM_003106.4(SOX2):c.402dup:p.Gly135fs	coding	Pathogenic
3	181712897	C	CGGGTA	T181712898G	SOX2	NM_003106.4(SOX2):c.537_538insGGGTA:p.Tyr180fs	coding	Pathogenic
3	181712980	AC	A	C181712981A	SOX2;SOX2-OT	NM_003106.4(SOX2):c.621del:p.Gln206_Tyr207insTer	coding	Pathogenic
3	181713123	G	GTTAC	C181713128T	SOX2	NM_003106.4(SOX2):c.764_767dup:p.Ser257fs	coding	Pathogenic
3	181713262	GC	G	C181713265G	SOX2;SOX2-OT	NM_003106.4(SOX2):c.905del:p.Pro302fs	coding	Pathogenic
3	181713438	G	GA	T181713450A	SOX2	NM_003106.4(SOX2):c.*135dup	noncoding	Benign
3	183022429	GTAAA	G	A183022432G	MCCC1	NM_020166.5(MCCC1):c.1853_1856del:p.Ile618fs	coding	Pathogenic
3	183022493	AG	A	G183022495T	MCCC1	NM_020166.5(MCCC1):c.1792del:p.Tyr597_Leu598insTer	coding	Pathogenic
3	183022495	G	GT	A183022497T	MCCC1	NM_020166.5(MCCC1):c.1790dup:p.Tyr597Ter	coding	Pathogenic
3	183022566	GA	G	A183022571T	MCCC1	NM_020166.5(MCCC1):c.1732-13del	noncoding	Benign
3	183041578	CCA	C	C183041579G	MCCC1	NM_020166.5(MCCC1):c.1254_1255del:p.Gly419fs	coding	Pathogenic
3	183041703	CAG	C	A183041706T	MCCC1	NM_020166.5(MCCC1):c.1129_1130del:p.Leu377fs	coding	Pathogenic
3	183045092	C	CT	A183045110T	MCCC1	NM_020166.5(MCCC1):c.1083+304dup	noncoding	Benign
3	183045397	G	GA	T183045404A	MCCC1	NM_020166.5(MCCC1):c.1083+15dup	noncoding	Benign/Likely_benign
3	183045549	T	TA	C183045556A	MCCC1	NM_020166.5(MCCC1):c.956-10dup	noncoding	Benign
3	183052161	GCT	G	T183052163C	MCCC1	NM_020166.5(MCCC1):c.951_952del:p.Ala318fs	coding	Pathogenic
3	183052245	GA	G	A183052252T	MCCC1	NM_020166.5(MCCC1):c.874-6del	noncoding	Benign
3	183052245	G	GA	T183052253A	MCCC1	NM_020166.5(MCCC1):c.874-6dup	noncoding	Benign/Likely_benign
3	183057379	CA	C	A183057380G	MCCC1	NM_020166.5(MCCC1):c.804del:p.Val269fs	coding	Pathogenic
3	183057422	CCT	C	C183057423A	MCCC1	NM_020166.5(MCCC1):c.762-2_762-1del	coding	Pathogenic
3	183070733	CA	C	A183070748T	MCCC1	NM_020166.5(MCCC1):c.761+265del	noncoding	Benign
3	183071213	TC	T	C183071215T	MCCC1	NM_020166.5(MCCC1):c.635del:p.Gly212fs	coding	Pathogenic
3	183071292	TG	T	G183071294T	MCCC1	NM_020166.5(MCCC1):c.556del:p.Gln186fs	coding	Pathogenic
3	183071314	CC	AA	C183071314A	MCCC1	NM_020166.5(MCCC1):c.534_535delinsTT:p.Glu179Ter	coding	Pathogenic
3	183072421	CT	C	T183072423C	MCCC1	NM_020166.5(MCCC1):c.435del:p.Gly146fs	coding	Pathogenic
3	183092457	AGTCT	A	C183092460A	MCCC1	NM_020166.5(MCCC1):c.221_224del:p.Gln74fs	coding	Pathogenic
3	183099668	T	TG	T183099674G	MCCC1	Single_allele	noncoding	Benign
3	183678926	TTA	T	T183678927C	KLHL24	NM_017644.3(KLHL24):c.1603-159_1603-158del	noncoding	Benign
3	183678929	CACAGA	C	G183678933C	KLHL24	NM_017644.3(KLHL24):c.1603-153_1603-149del	noncoding	Benign
3	183722184	A	AG	T183722185G	YEATS2	NM_018023.5(YEATS2):c.537+48_537+49insG	noncoding	Benign
3	183762320	ATGT	A	G183762325T	YEATS2	NM_018023.5(YEATS2):c.1947+46_1947+48del	noncoding	Benign
3	183775955	CGGA	C	A183775982C	YEATS2	NM_018023.5(YEATS2):c.2412AGG[8]:p.Gly814del	coding	Benign
3	184137714	G	GAT	G184137717A	EIF2B5	NM_003907.3(EIF2B5):c.416_417dup:p.Ala140fs	coding	Pathogenic
3	184138182	G	GT	A184138184T	EIF2B5	NM_003907.3(EIF2B5):c.702dup:p.Ser235Ter	coding	Pathogenic
3	184140702	CA	C	A184140703G	EIF2B5	NM_003907.3(EIF2B5):c.1129del:p.Ser377fs	coding	Pathogenic
3	184141948	AC	A	C184141950T	EIF2B5	NM_003907.3(EIF2B5):c.1182del:p.Tyr395fs	coding	Pathogenic
3	184141961	AG	A	G184141964T	EIF2B5	NM_003907.3(EIF2B5):c.1196del:p.Gly399fs	coding	Pathogenic
3	184142543	CT	C	T184142544C	EIF2B5	NM_003907.3(EIF2B5):c.1487del:p.Leu496fs	coding	Pathogenic
3	184142597	CTG	C	T184142600G	EIF2B5	NM_003907.3(EIF2B5):c.1543_1544del:p.Trp515fs	coding	Pathogenic
3	184142821	AG	A	G184142822C	EIF2B5	NM_003907.3(EIF2B5):c.1590del:p.Glu530fs	coding	Pathogenic
3	184248447	A	AAGC	T184248465C	ALG3	NM_005787.6(ALG3):c.196+283GCT[6]	noncoding	Benign
3	184316552	GT	G	T184316553G	EIF4G1	NM_198241.3(EIF4G1):c.147+335del	noncoding	Benign
3	184319426	GGT	G	G184319465T	EIF4G1	NM_198241.3(EIF4G1):c.425-262GT[19]	noncoding	Benign
3	184319447	GTGTGTGTGTGTGTGTGTGTT	G	G184319465T	EIF4G1	NM_198241.3(EIF4G1):c.425-224_425-205del	noncoding	Benign
3	184319449	GTGTGTGTGTGTGTGTGTT	G	T184319468A	EIF4G1	NM_198241.3(EIF4G1):c.425-221_425-204del	noncoding	Benign
3	184319451	GTGTGTGTGTGTGTGTT	G	T184319467G	EIF4G1	NM_198241.3(EIF4G1):c.425-222_425-207del	noncoding	Benign
3	184321978	AAGGAGAAGC	A	A184321997T	EIF4G1	NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2]:p.466GEA[2]	coding	Benign
3	184353343	C	CCGG	G184353350C	CLCN2	NM_004366.6(CLCN2):c.1929CCG[3]:p.Arg646dup	coding	Benign
3	184354506	G	GT	G184354508T	CLCN2	NM_004366.6(CLCN2):c.1507+41dup	noncoding	Benign
3	184357091	AAT	A	T184357093C	CLCN2	NM_004366.6(CLCN2):c.985_986del:p.Ile329fs	coding	Pathogenic
3	184357799	GGGAGA	G	G184357803A	CLCN2	NM_004366.6(CLCN2):c.668_672del:p.Leu223fs	coding	Pathogenic
3	184372749	AG	A	G184372751A	THPO	NM_000460.4(THPO):c.825del:p.Ser276fs	coding	Pathogenic
3	184376305	TC	T	C184376309T	THPO	NM_000460.4(THPO):c.-47del	coding	Pathogenic
3	184957359	CTTTTA	C	T184957361G	VPS8	NM_001009921.3(VPS8):c.3036-13_3036-9del	noncoding	Benign
3	185204158	AG	A	G185204159A	EHHADH	NM_001966.4(EHHADH):c.910+257del	noncoding	Benign
3	185253761	T	TAA	G185253777A	EHHADH	NM_001966.4(EHHADH):c.74+173_74+174dup	noncoding	Benign
3	185253772	A	AAAAAG	A185253787G	EHHADH	NM_001966.4(EHHADH):c.74+167CTTTT[3]	noncoding	Benign
3	185513447	GTGGAGAAACTGGATCCTGTATGCACCATCAGTGGGATTGGAAAATTGTGCAACCATTAAGGAAAACAGTATAGTGGTGTCTCAAAAAATTAAAAAGAGAACTACAATATGATCCAGAAACTCCACTTCTGGATACAAGTCCAAAAAAATTGAAAGCAGAGTCTCAGACATTTGCACACCCATGTTCATAGCAGCACTAGTCACAATAGCCAAGAGGAGGAGGCAACCCAAGTGTTCATTGATGGAAGAATAAACAAAATGTGGTATATGCATATAATCAAATATTACTCAGCCTTAAAAATGAAGGAAATCAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCATGAAGTCAGGAGTTTGAGACCAGCCTGGCCAGCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGAGGTTGCAGTGAGCTGAGATGTTTTGATGTATGTATACAATGTGGGATAATTAAATCAGCATATTCATTTGTTGTTTAAATCCTTTATCGAAAACAAGGATAACTTTTGTATTACATGTTTAATCAAAGGAAGTAAGGAGGAGAGGAACAAAGGGAGAAAGAGAGGGAAAGAGGGAGGAAAGGAAGGAAAAAGGGAGGAAGCAAAGAAAGGAAGAAGAGAAGGAGGGAAGGAAAGAAAACCCTTGCACCAATCCCATTTGTAAAGACCCTGGGAGATCAAGAACCAGGGAAGCAACTAAGCAATAGTTCCCCTTATATCTTTTATAGAACAAGGAAAAGCATAGATCTATAAATAAGAAAGTAGGTGGATTTGTGATTTAATTTCTCTGAGCAAAAAGGGAAATAGCGCACTGCAAACAATTGTAACTCAACTTACTGATTGATTTTGGATTCTGTGGTGTTTCCAGCTTTGTCTCTCAATTTGATGGTAATGTCCCCTCTTCTTACATTCTTGTTCCATGTTATAATATCCACAAAGTAATGATACACTGCAAAACAGAGAGAGAACACGGTAAGAGAGAGATACTACCAACTGATCCCCTGAAGGGCTGGTTCCTAAAAACTGAACCTCCCTAATCACTGAGTCTCTTCTTCTCTTTCTCTCTGGTTTCTCTGCAAAGATCCAGGGCAGAAGTTTCTAATATTCCCTTCTCTTCTCTTTGGTAAAGATGGCATGAGTGATAGCAGAGTTCATTGGTTTCCAGTCACCATGGTCAGGCATCATCGTTGAACCAGTGTTTCCAGGTATTGTGAAGTCTTAGGGCTTATGGCTGAGTGTGGTTCACATCAATTCCTGCCCATTTTAGACTCAACCAACTAAGGGGCCATTCGGAGACCCTCCAGGGCTGAGACGGTTTTCCACAGTTTGGGCCAAGTCCACCAGCCTACTCAGCCTTCCTCATCCTTCTCCCAATCATGCTCCACCACCTGCACTCCCTGCACTGTGAAGGCTCCTGGGCCTTCACCCACCTGGGCACGCTTACTTTGCCAGCTCTGTGAATCCACCTTTTAGGTTTCAACTTAATGTCATTCCTCCAGAAGGCTTTTCCTGACCCCCAGACTAAGTCAGGTCTCCTTTCTTGAAGTTCCTGCCATACTCTGGACTCTCCCCATTATTATTCAGCACACTTTCCTGTATTTACAAAATGCAAGAAAGGGTGATAATAAAAATAAAGTGGCATTCCCTAACCAGCAGACTCAGAGAAAAAAAAAGTGGTGAATATGTGGGTACATCTATACAAATGTTACCTGAATAATGTCTTATGGGTTTTTTTAAAAAAAAAAAAGATAAAATTAAAACACGCTACAACAGGAACTAATCAGGGAGATGACAGTCCCACGAAGGAATAAGGTCAGTCCTGGATTTGCCATTTTATGGCCCAACTTGCTCAGGGGCTTGCCCCATACAGACCAGGTAGGTGCCAAATCCTGGGCTGCCACACATGGCTCCAAAGAAAGAGGGAAACCCAGTGATCTGCAGGCTTTTTTTTTTTTTAAAAGAATCTCTCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGTTCACGGCAACCTCTGTCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTTCTAGGTAGCTGGGATTACAGGCAAGCACCACCACGCCCAGCTAATTTTTATATTTTGTTTTTGGGGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGAATGCAGGCGTGAGCCACCATGCTTAGCCTCCAGGCTCTTTTAAAAGAGTTGCTCACACCTGGCATGGAAGTTCACACCTGTAATCCCAGCACTAAGGCAGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTATGCAACATAGTGAGATTCTGTCTCTAAAAGAAACAAAAAAAACAGTTAGCTGGGCATGGTGGCGCATGCCCGAAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGTCCAGGAGGTTGAGGCTGCAGTGCCCCATTATTGTGCCACTGCACTCCAGCCTGGGTGACAGAACAAGACCCTGTCTCAAAAAAAAATTAACATAGCCTGGGCATGGTGGCTGATGCCTGTAATCCCAGCGCTTTGAGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGCACACCTGTAGTCTCAGGTACTCGGAATCCTGAGGCAGGAGGATCGCGTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATTGCGCCACTGAACTTCAACTTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAATAAATAAAATGAAATAAAATAGTTGTTCCCAAGGAAAGTGAAAATGGGTACAAGACTGTAGGAAAAACACATCTGCCCAAGGAAATTCTAGTTGCTTCCCAAGGCGTCTAATCATTGGCTGCCCCCTTTAATTCCCATCTGGAATACTCAACCTCTCGAGGCCTTTGGGTCATCATGTTTGCTTTAGAGCTGGAACTGACCTGTAGATATGGCTGACACCTGATTTTTCCTAGTCTTAATTTTATGTCTTTTGGGGAATCAAGCAATTTTCTGGAAGATCTTAGTGATTAGAATGGTCATCCAGTGAAACTAACAACTCTGATTTGTTGAGATTTTATTAAATTAATATTTTTAAATGGCATCAGATTAAACCTAATATCCCAGAATACAGGCATTATTACCCCCATTTGACCAGTCAGGACATTGAGACTCAGAGAAGTCAAATGACTTCACCAAGGTCCCACAGCTATTATGTGGTAGACTCAGGAGTCAACCGAGGCCCTTCCAGCTCCAAAGTTGATGCTTCATCATGGCTCTTATTTGCCAAGAAGTAGCCAGGAAGCTGAGACTCAGCCATCCCCAAAATGAGAGTTAGGCAAAAGCCAACAACCACATTCACCACTCACTGCAGAATGGGCTCTCCTCAGCTGTGTCAAAGAATGCCTTCGTCATTGGAGGATCTTTCCCCCTTAGATGGTCTTTCCAATTATCAGCATAATAGCCTATGAAACAAGTTTAAAAAATTGTAAGATTAATATGTATTATACAAACATAAAAGCAACTGAGGTAGCAAGAACATTGAGTTTGACTGTATCCACCACTTCTGAGAGAAACTCCATCCCACCTCCATCCCCCATGGTGAGGGCCTGCAGGGTGACCCATCTTGCTGGCCAACCCTGTCCCTAAGAGCTGAAGGGCAACAGGACCCTCCAGTTGTTTTCCCCCTTTACTGGTTCTCAGTAGCAGGGTGGAGAGGTGTGGGGTGTGGCACACACTGGTGTGGACTAAAAATAACACTGACATTTTTCAGTAATACATTCATTTTCTAGATTAAAACAGATTCAAGTTCATACCTAAAATAGCATCACTCTTGAAAACCAATATGCTTTCTTGAAGAACTACAATGGGGCCCCTAAATTGCATAGACCTGGGCTTGCCACATGACTGACTGTGTCACTAAGCAGGTGAGTGTCCTCCTTTGTTTTTGCTGTCCAGAGGGCCCTCTTTCTCTCCTCTGTCCCTAGCCCTAGAGAATGGCCTTCACATTCTGCCTTAATTGATCCAGGGTGGGACCCAGGCATCAGTATTGTGTTAAAACTCCTTAGGTGATTCTAAAGCACAATCAAGGTTGAGAACCCCTTGTCTATACCATGCCCTGTTGTTAACTTGGATTTTTCCTTTTGGAAAAAAAATAGAAAATCCTCATGACCATCCAGTTTCAAAGTCCTAACCACCTAGAATATCTGTACTAATCCCTAGCGAATATCCAAGCAGCCTCCACAATATCTATTACCTCACTCCACCTGCTGTACGTGCACACAAGAGCCAGAATGTGGAGTGAGGGCATTTACATAGACATGAGTCTGTGAAAAAGTTCACTTGTCAGGAGAGTCTCTGGGCTCATTGTGGACCCTCTCCCAGCAGAGAGGTTGTAAGCACAGAAAGGGTATTCCTGTCCCCACAGGAGCAGGCTACGTAGAGTGACTGTACCCTGGGTAAGCTTGGAAACTCTTCTGTAACCTTCTTTTCCATGCTAGAATAGAGGGTCCAGGGAGGCTGTACTGCCTTCTGGATGGAATACTCTACAGTTGCTTTTCTTTTCTTTTTTCTTTCTTTTGTTTGTTTGTTTGCTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGGTCTCAGCTCACTGTATCCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTTCAGGCGCCCGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGAGATATCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATTCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCATGCCCAGTCTACATTGCTTTCTAACACTGTTTATTAGTAGGAGACTAGAGTAGTTCAAAGAACAAATTGGCTAGAAAAAGCTGACTAGAAAAAAAAAGTCTATTTTTAAAATTTTTTTCTTTTTAAGAAATTTTTTTTTAAATTTTAACCTTTTATTTATTTATTTT	G	A185513454C	LIPH	NM_139248.3(LIPH):c.886+405_1094+962del	noncoding	Pathogenic
3	185534812	T	TCTTACTAGAGGCATGGGTATATATTAAAGTTGTAGCTCCTCGATTCCAATCAACAACAACTACGTTCATGTCTTCAACAGAGAGCAAACC	T185534906A	LIPH	NM_139248.3(LIPH):c.280_369dup:p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValValValValAspTrpAsnArgGlyAlaThrThrLeuIleTyrThrHisAlaSerSerLys	coding	Pathogenic
3	185534831	ATATAT	A	T185534834A	LIPH	NM_139248.3(LIPH):c.346_350del:p.Ile116fs	coding	Pathogenic
3	186577628	A	AT	C186577642T	DNAJB11	NM_016306.6(DNAJB11):c.324-27dup	noncoding	Benign
3	186577628	AT	A	T186577641C	DNAJB11	NM_016306.6(DNAJB11):c.324-27del	noncoding	Benign
3	187220496	C	CT	G187220514T	MASP1	NM_001879.6(MASP1):c.1910-236dup	noncoding	Benign
3	187247032	AT	A	T187247042C	MASP1	NM_139125.4(MASP1):c.1090+3218del	coding	Benign
3	187247091	A	AT	C187247101T	MASP1	NM_139125.4(MASP1):c.1090+3151dup	coding	Benign
3	187251412	T	TA	C187251429A	MASP1	NM_139125.4(MASP1):c.1011+206dup	noncoding	Benign
3	187251583	C	CG	A187251585G	MASP1	NM_139125.4(MASP1):c.1011+50dup	noncoding	Benign
3	187256721	CT	C	T187256722C	MASP1	NM_139125.4(MASP1):c.686del:p.Glu229fs	coding	Pathogenic
3	188405894	TTTC	T	T188405896C	LPP	NM_001375462.1(LPP):c.-9-216_-9-214del	noncoding	Benign
3	188873072	GT	G	T188873073G	LPP	NM_001375462.1(LPP):c.1710+310del	noncoding	Benign
3	189631179	GCTCCA	G	C189631180A	TP63	NM_001329964.2(TP63):c.56+33942_56+33946del	noncoding	Benign
3	189639813	TG	CA	T189639813C	TP63	NM_003722.5(TP63):c.62+8236_62+8237inv	noncoding	Benign
3	189787507	GTCCAGAATCTTT	G	T189787508G	TP63	NM_003722.5(TP63):c.325-20764_325-20753del	noncoding	Benign
3	189789729	C	CAGAG	G189789730A	TP63	NM_003722.5(TP63):c.325-18543_325-18542insAGAG	coding	Benign/Likely_benign
3	189789729	C	CAG	G189789730A	TP63	NM_003722.5(TP63):c.325-18543_325-18542insAG	coding	Benign
3	189808195	ACC	A	C189808197A	TP63	NM_003722.5(TP63):c.325-75_325-74del	noncoding	Benign
3	189866806	C	CA	C189866813A	TP63	NM_003722.5(TP63):c.882+15dup	noncoding	Benign
3	189869011	T	TA	C189869013A	TP63	NM_003722.5(TP63):c.1129+296dup	noncoding	Benign
3	189889410	T	TC	A189889416C	TP63	NM_003722.5(TP63):c.1583dup:p.Leu529fs	coding	Pathogenic
3	189890826	T	TA	T189890828A	TP63	NM_003722.5(TP63):c.1691dup:p.Tyr564Ter	coding	Pathogenic
3	189890827	ATT	A	T189890829C	TP63	NM_003722.5(TP63):c.1693_1694del:p.Phe565fs	coding	Pathogenic
3	189894284	GA	G	A189894286T	TP63	NM_003722.5(TP63):c.1827del:p.Glu609fs	coding	Pathogenic
3	189894356	AC	A	C189894359G	TP63	NM_003722.5(TP63):c.1900del:p.Arg634fs	coding	Pathogenic
3	189894433	GA	G	A189894435T	TP63	NM_003722.5(TP63):c.1976del:p.Asn659fs	coding	Pathogenic
3	189897137	CA	C	A189897138T	TP63	NM_003722.5(TP63):c.*2636del	noncoding	Benign/Likely_benign
3	189957700	A	AAG	A189957726G	P3H2	NM_018192.4(P3H2):c.*188CT[13]	noncoding	Benign
3	189957700	A	AAGAG	A189957726G	P3H2	NM_018192.4(P3H2):c.*188CT[14]	noncoding	Benign
3	189957700	A	AAGAGAGAG	A189957726G	P3H2	NM_018192.4(P3H2):c.*188CT[16]	noncoding	Benign
3	189957700	AAGAG	A	G189957722A	P3H2	NM_018192.4(P3H2):c.*188CT[10]	noncoding	Benign
3	189972612	A	AT	C189972622T	P3H2	NM_018192.4(P3H2):c.1699+253dup	noncoding	Benign
3	189972874	CAG	C	G189972876C	P3H2	NM_018192.4(P3H2):c.1697_1698del:p.Ser566fs	coding	Pathogenic
3	189972934	TA	T	A189972938T	P3H2	NM_018192.4(P3H2):c.1638del:p.Phe546fs	coding	Pathogenic
3	189973027	GA	G	A189973038C	P3H2	NM_018192.4(P3H2):c.1549-4del	noncoding	Benign
3	189973027	G	GAA	C189973039A	P3H2	NM_018192.4(P3H2):c.1549-14_1549-13dup	noncoding	Benign
3	189973027	G	GA	C189973039A	P3H2	NM_018192.4(P3H2):c.1549-14dup	noncoding	Benign
3	189973034	A	AC	A189973035C	P3H2	NM_018192.4(P3H2):c.1549-11_1549-10insG	noncoding	Benign
3	189973037	A	AAC	A189973041C	P3H2	NM_018192.4(P3H2):c.1549-15_1549-14dup	noncoding	Benign
3	189973037	A	AC	A189973038C	P3H2	NM_018192.4(P3H2):c.1549-14_1549-13insG	noncoding	Benign
3	189974669	ATAGAG	A	T189974675G	P3H2	NM_018192.4(P3H2):c.1336_1340del:p.Leu445_Leu446insTer	coding	Pathogenic
3	189983080	C	CT	C189983087T	P3H2	NM_018192.4(P3H2):c.1289dup:p.Leu431fs	coding	Pathogenic
3	189984328	GAAAA	G	A189984335T	P3H2	NM_018192.4(P3H2):c.1229+218_1229+221del	noncoding	Benign
3	189984570	TC	T	C189984572A	P3H2	NM_018192.4(P3H2):c.1208del:p.Gly403fs	coding	Pathogenic
3	189984606	TAA	T	A189984616T	P3H2	NM_018192.4(P3H2):c.1189-18_1189-17del	noncoding	Benign
3	189984606	TA	T	A189984617T	P3H2	NM_018192.4(P3H2):c.1189-17del	noncoding	Benign
3	189984606	T	TA	T189984618A	P3H2	NM_018192.4(P3H2):c.1189-17dup	noncoding	Benign
3	189987479	TAA	T	A189987497G	P3H2	NM_018192.4(P3H2):c.1098+46_1098+47del	noncoding	Benign
3	189987479	TA	T	A189987498G	P3H2	NM_018192.4(P3H2):c.1098+47del	noncoding	Benign
3	189987648	AG	A	G189987651C	P3H2	NM_018192.4(P3H2):c.976del:p.Leu326fs	coding	Pathogenic
3	189994194	GA	G	A189994197T	P3H2	NM_018192.4(P3H2):c.722del:p.Phe241fs	coding	Pathogenic
3	189994300	GG	AA	G189994300A	P3H2	NM_018192.4(P3H2):c.634-18_634-17delinsTT	noncoding	Benign
3	189994305	A	AAAAC	A189994337C	P3H2	NM_018192.4(P3H2):c.634-50GTTT[8]	noncoding	Benign
3	189995421	CTGCTTTT	C	G189995423C	P3H2	NM_018192.4(P3H2):c.495_501del:p.Lys166fs	coding	Pathogenic
3	189995450	GA	G	A189995459T	P3H2	NM_018192.4(P3H2):c.481-9del	noncoding	Benign
3	189995510	GATCAATCCAAAA	G	A189995511T	P3H2	NM_018192.4(P3H2):c.481-80_481-69del	noncoding	Benign
3	190120342	GC	G	C190120347G	P3H2	NM_018192.4(P3H2):c.389del:p.Gly130fs	coding	Pathogenic
3	190120473	G	GGCGGGCACAGCGCGTGCGGATTTCCC	A190120502G	P3H2	NM_018192.4(P3H2):c.233_258dup:p.His87fs	coding	Pathogenic
3	190120705	CG	C	G190120707C	P3H2	NM_018192.4(P3H2):c.26del:p.Pro9fs	coding	Pathogenic
3	190121339	TA	T	A190121350G	P3H2	NM_001134418.2(P3H2):c.-64+863del	noncoding	Benign
3	191329942	TGGG	T	G191329954C	CCDC50	NM_178335.3(CCDC50):c.49+231_49+233del	noncoding	Benign
3	191329942	TGG	T	G191329955C	CCDC50	NM_178335.3(CCDC50):c.49+232_49+233del	noncoding	Benign
3	191329942	TG	T	G191329956C	CCDC50	NM_178335.3(CCDC50):c.49+233del	noncoding	Benign
3	191329975	AGTAG	A	A191329978G	CCDC50	NM_178335.3(CCDC50):c.49+255_49+258del	noncoding	Benign
3	191356994	AT	A	T191357002A	CCDC50	NM_178335.3(CCDC50):c.50-86del	noncoding	Benign
3	191357007	T	TA	T191357020A	CCDC50	NM_178335.3(CCDC50):c.50-69dup	noncoding	Benign
3	191375679	TTC	T	C191375685A	CCDC50	NM_178335.3(CCDC50):c.976+91TC[2]	noncoding	Benign
3	191380139	G	GT	A191380155T	CCDC50	NM_178335.3(CCDC50):c.977-5dup	noncoding	Benign
3	191380139	G	GTT	A191380155T	CCDC50	NM_178335.3(CCDC50):c.977-6_977-5dup	noncoding	Benign
3	191389528	ATGCGGATTACACTCATTTTACAAACCAGCAG	A	T191389529A	CCDC50	NM_178335.3(CCDC50):c.1356_1386del:p.Asp452fs	coding	Pathogenic
3	191389566	A	ACACGGCAT	T191389575C	CCDC50	NM_178335.3(CCDC50):c.1394_1401dup:p.Phe468fs	coding	Pathogenic
3	192144401	AC	A	C192144403T	FGF12	NM_004113.6(FGF12):c.428-275del	noncoding	Benign
3	192170663	GAAA	G	A192170674G	FGF12	NM_004113.6(FGF12):c.229-10_229-8del	noncoding	Benign
3	192170663	GAA	G	A192170675G	FGF12	NM_004113.6(FGF12):c.229-9_229-8del	noncoding	Benign
3	192170663	GA	G	A192170676G	FGF12	NM_004113.6(FGF12):c.229-8del	noncoding	Benign
3	192170663	G	GA	G192170677A	FGF12	NM_004113.6(FGF12):c.229-8dup	noncoding	Benign
3	192335466	TG	T	G192335472A	FGF12	NM_004113.6(FGF12):c.125-3del	noncoding	Benign
3	192335466	T	TG	A192335473G	FGF12	NM_004113.6(FGF12):c.125-3dup	noncoding	Benign
3	192407723	T	TG	A192407724G	FGF12	NM_004113.6(FGF12):c.14-47186_14-47185insC	noncoding	Benign
3	192727462	A	AT	A192727482T	FGF12	NM_004113.6(FGF12):c.-131+3dup	noncoding	Benign
3	192727462	A	ATT	A192727482T	FGF12	NM_004113.6(FGF12):c.-131+3_-131+4dup	noncoding	Benign
3	193614631	C	CTGTG	T193614637G	OPA1	NM_130837.3(OPA1):c.33-91TG[4]	noncoding	Benign
3	193614758	G	GA	T193614761A	OPA1	NM_130837.3(OPA1):c.70dup:p.Ile24fs	coding	Pathogenic
3	193614781	C	CAAAA	C193614787A	OPA1	NM_130837.3(OPA1):c.93_96dup:p.Leu33fs	coding	Pathogenic
3	193615267	G	GA	T193615270A	OPA1	NM_130837.3(OPA1):c.351+228dup	noncoding	Benign
3	193615675	CT	C	T193615679G	OPA1	NM_130837.3(OPA1):c.357del:p.Phe119fs	coding	Pathogenic
3	193618887	CGT	GC	C193618887G	OPA1;OPA1-AS1	NM_130837.3(OPA1):c.629_631delinsGC:p.Ala210fs	coding	Pathogenic
3	193631653	TC	T	C193631654T	OPA1	NM_130837.3(OPA1):c.832del:p.Leu278fs	coding	Pathogenic
3	193637182	A	AAT	A193637184T	OPA1	NM_130837.3(OPA1):c.949-12_949-11insTA	noncoding	Benign/Likely_benign
3	193642763	AG	A	G193642765T	OPA1	NM_015560.2(OPA1):c.985del	noncoding	Pathogenic
3	193642828	C	CTT	A193642831T	OPA1	NM_130837.3(OPA1):c.1214_1215dup:p.Thr406fs	coding	Pathogenic
3	193643168	T	TA	T193643178A	OPA1	NM_130837.3(OPA1):c.1305+128dup	noncoding	Benign
3	193643425	AC	A	C193643426T	OPA1	NM_130837.3(OPA1):c.1359del:p.Leu454fs	coding	Pathogenic
3	193643446	TA	T	A193643448G	OPA1	NM_130837.3(OPA1):c.1377+4del	noncoding	Pathogenic
3	193643529	CTG	C	T193643532A	OPA1	NM_130837.3(OPA1):c.1382_1383del:p.Val461fs	coding	Pathogenic
3	193643592	T	TG	C193643594G	OPA1	NM_130837.3(OPA1):c.1443dup:p.Gln482fs	coding	Pathogenic
3	193644077	CA	C	A193644078G	OPA1	NM_130837.3(OPA1):c.1581del:p.Glu528fs	coding	Pathogenic
3	193644103	AGGGTGAGGTCAA	CAGTCCACAAATCT	A193644103C	OPA1	NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT	coding	Pathogenic
3	193645540	C	CT	A193645545T	OPA1	NM_130837.3(OPA1):c.1609-9dup	noncoding	Benign
3	193645710	AC	A	C193645712A	OPA1	NM_130837.3(OPA1):c.1682-16del	noncoding	Benign
3	193645726	AG	A	G193645729A	OPA1	NC_000003.11:g.193363516delG	noncoding	Pathogenic
3	193646066	CTTTA	C	A193646070T	OPA1	NM_130837.3(OPA1):c.1754+270_1754+273del	noncoding	Benign
3	193647166	CT	C	T193647167G	OPA1	NM_130837.3(OPA1):c.1857del:p.Asp620fs	coding	Pathogenic
3	193648806	T	TG	A193648808G	OPA1	NM_130837.3(OPA1):c.1948dup:p.Glu650fs	coding	Pathogenic
3	193648837	GTT	G	T193648838A	OPA1	NM_130837.3(OPA1):c.1979_1980del:p.Val660fs	coding	Pathogenic
3	193654905	CAT	C	A193654906G	OPA1	NM_130837.3(OPA1):c.2057_2058del:p.His686fs	coding	Pathogenic
3	193657097	AC	A	C193657098A	OPA1	NM_130837.3(OPA1):c.2197del:p.Gln733fs	coding	Pathogenic
3	193657113	CG	C	G193657114C	OPA1	NM_130837.3(OPA1):c.2213del:p.Arg738fs	coding	Pathogenic
3	193662663	CG	C	G193662667T	OPA1	NM_130837.3(OPA1):c.2521-155del	noncoding	Benign
3	193664901	GT	G	T193664904A	OPA1	NM_130837.3(OPA1):c.2686del:p.Tyr896fs	coding	Pathogenic
3	193664914	A	AT	A193664921T	OPA1	NM_130837.3(OPA1):c.2702dup:p.Leu901fs	coding	Pathogenic
3	193664967	T	TA	C193664969A	OPA1	NM_130837.3(OPA1):c.2750dup:p.Tyr917Ter	coding	Pathogenic
3	193665272	A	ATAAAG	C193665276A	OPA1	NM_130837.3(OPA1):c.2778+279_2778+280insAGTAA	noncoding	Benign
3	193667235	AT	A	T193667237A	OPA1	NM_130837.3(OPA1):c.2940del:p.Lys981fs	coding	Pathogenic
3	193692060	CAGAG	C	G193692062A	OPA1	NM_130837.3(OPA1):c.2984-1_2986del	noncoding	Pathogenic
3	194427120	C	CA	C194427129A	ATP13A3	NM_001367549.1(ATP13A3):c.3079dup:p.Trp1027fs	coding	Pathogenic
3	194431017	C	CA	T194431019A	ATP13A3	NM_001367549.1(ATP13A3):c.2549dup:p.Met850fs	coding	Pathogenic
3	194438991	C	CA	C194439001A	ATP13A3	NM_001367549.1(ATP13A3):c.1711-20dup	noncoding	Benign
3	194441545	T	TA	T194441556A	ATP13A3	NM_001367549.1(ATP13A3):c.1560-94dup	noncoding	Benign
3	195780987	G	GGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	T195781044C	MUC4	NM_018406.7(MUC4):c.10592_10593insAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCAC:p.Ser3541_Leu3542insPheSerSerValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSer	coding	Pathogenic
3	195781148	GGCTGGT	G	C195781150A	MUC4	NM_018406.7(MUC4):c.10426_10431del:p.Thr3476_Ser3477del	coding	Pathogenic
3	195781674	AGTCTCGGTGACAAGAAG	A	G195781675A	MUC4	NM_018406.7(MUC4):c.9889_9905del:p.Leu3297fs	coding	Pathogenic
3	195895337	A	AGCAGCGCCC	C195895352G	TNK2	NM_001382273.1(TNK2):c.-18-6740_-18-6732dup	coding	Benign
3	196053114	C	CA	T196053129A	TFRC	NM_001128148.3(TFRC):c.2040+290dup	noncoding	Benign
3	196065262	CA	C	A196065276G	TFRC	NM_001128148.3(TFRC):c.1198+180del	noncoding	Benign
3	196065276	AG	A	G196065277A	TFRC	NM_001128148.3(TFRC):c.1198+166del	noncoding	Benign
3	196065417	CGGG	C	G196065430C	TFRC	NM_001128148.3(TFRC):c.1198+23_1198+25del	noncoding	Benign
3	196065417	CGGGG	C	G196065429C	TFRC	NM_001128148.3(TFRC):c.1198+22_1198+25del	noncoding	Benign
3	196065425	G	GT	G196065426T	TFRC	NM_001128148.3(TFRC):c.1198+17_1198+18insA	noncoding	Benign
3	196075046	C	CA	T196075067A	TFRC	NM_001128148.3(TFRC):c.238+93dup	noncoding	Benign
3	196316347	A	AT	A196316354T	DYNLT2B	NM_152773.5(DYNLT2B):c.114-122dup	noncoding	Benign
3	196483787	GTTTC	G	C196483791G	RNF168	NM_152617.4(RNF168):c.659_662del:p.Arg220fs	coding	Pathogenic
3	196483805	AC	A	C196483806T	RNF168	NM_152617.4(RNF168):c.644del:p.Ser215fs	coding	Pathogenic
3	196483805	ACTTTT	A	T196483812A	RNF168	NM_152617.4(RNF168):c.640_644del:p.Lys213_Lys214insTer	coding	Pathogenic
3	196488580	CA	C	A196488591C	RNF168	NM_152617.4(RNF168):c.378+26del	noncoding	Benign
3	196502975	GGGTAT	G	T196502980C	RNF168	NM_152617.4(RNF168):c.194_198del:p.His65fs	coding	Pathogenic
3	196503022	CAG	C	A196503023C	RNF168	NM_152617.4(RNF168):c.150_151del:p.Cys50fs	coding	Pathogenic
3	197951145	CT	C	T197951149G	RPL35A	NM_000996.4(RPL35A):c.12-10del	noncoding	Benign
4	499496	A	AC	T499501C	PIGG	NM_001127178.3(PIGG):c.154+11dup	coding	Benign
4	500178	CACTGCTTGCTACTGTGGGTCCCTAAGATTACTCCTGTTAACCCCCGTCCTTTCCCCCCAGCACTACCTACCAAGTACAAGTCGCCTCCTTTTGGGTTGGGTTATGTAGATATCGCAGGGTATGTGCTGGAGAAGTAGGTAGAAGCTAGATTGTGAAGGTGCTTGATGCTAAGGAAAGTTTAGAGTTCAATTTCCTTTTTTTTCTTTCAAACACTTAGGAGCCAGTTCTAACTGGACCACGCTGCCACCACCTCTCTTCAGTAAAGTTGTTATTGTTCTGATAGATGCCTTGAGAGATGATTTTGTGTTTGGGTCAAAGGGTGTGAAATTTATGCCCTACACAACTTACCTTGTGGAAAAAGGAGCATCTCACAGTTTTGTGGCTGAAGCAAAGCCACCTACAGTTACTATGCCTCGAATCAAGGTAAGTTTGCCTTAATGTTTTATGAATCATGGTTTGGCTGTTTTGAAGATTTAGAGGGGGTCTCTGTAGTCTTTCGCTTGGAGTTGCAATTTTAAGAAAGTGGAAATTTTGTGCTGTCAGTTGGCTGGGGCAATAGAATGTTGAAGGAGCCTCACACGGGATGGAACTGAGACCCATCATTTGTGCCCCATGTCAAGTAGCCAAAGCTCATGCTTCATGGCAAATATAAAAGATTTAGAGCAAGATCATCCAGGCTAACCTACCCCAAGATATGCCATTCTTGGTGACCTGCTTTCTTCTTTAATCGTCACTGGGTCATTTACAATCTTAGAAGGAGCCTTTAGAGTTAATCTAGTTCAGTCTCTAGACTTTATAGATAGGAAAGCAAACTCAGATAAGTTAAATGTGACTTCTCCAAAATTATCCACCAGTATACATAATGATCAAATCAGTATGTTCCGGCCTCAACAATTACCACTGTTTCCACCATATCCTTCAGGTGTCCAGCCTACTGACAGCAGCTTTGAAGTACATAGTGCATTTCCCAAGAACCGTGGGTAAAGAAAAAAGTAAGCCTTTATTGATTGGCTCAAAACTTTTGAGCAACGACTATGTGGTGATACTTCAATGGGTATGCAATTGGGGAAAAAATAGTATCTCTGCCTTCATGTAGCTTTTAGTCTTTAGATATACAGCCACTCAACAAAGGAGCATATGAAAACATGCAGTTGTAAAGTGTGGTTAATGCATGATGAGAAAGAACAGGATGTGATGATTAGTGGGTGAGAAAGCCTGGCTGAGGAAATTGCATTTAAACTGAGACTGGAAGGATGAATAAAGGTGGGGACAGAAAGGAGCAGAGGGGTTGAAGTGTGTGAGTGTATCGCATGTGAGCGTGGCATAAAGTCTCTGACGGAGCCTTAGCTGTGTTGTTGATCATGTGAAACATTATTTGGTGAGAAGGAGCTACTTATTGATTTAAGGCTTGGGGGCAGCCCCATTTGCAGATGCTTGGCAGATGTTCACTGGATGAAAGCAGTCTGAGACTGAAGGAAGCACAGTGCCATATCACTCACTGACTTTTTCCTTGAATTTCTTACTCTCTCTGCCGCATTTCAATGTGATGTGACTTCCTTCAGCAATATTTATTGAGCATCTACTGTGTGCCACACTGTTCCAGACAGGAGGGAGGCAGTGAAGAACAAGACAGCATTGTCCTCATGGAGCTTACTTTCTAATTGGAGGGATAGAAAATCGGTAAAATATGAATCAATGAAGATGGTTTCAGACAGTGACAACTGCTCTGGAAGGAATGGAGAGGGAGGTGAGAGAGAATGAAGGGGAGAGGGGCATGCCCGGCACCTTTGAACACAGCACTCAGAGTTTTTGCCGTCCTGCTGAAACTAGCTGTGGGAATCTGGAAGAAAGACATCCAGCCCCTGATTTTCAGGAACACCGGTTTCTTTATCTGCTCTATCAGAAGTGTGGAAGGAACCCTTTTCTCCTTTTCTTTTAAGATTTAACAGGCAGATTTGAGAAAATGTATAAGTGATTGTGCAGGTTCTAGGTTCTATTCAGACCAGTCCGTTGGCACTGTGGTTCTTGGGGCCTCTGTCTCCAGCTTATTGGTTTTATTTCACCTTTGCTGGGGAGCCTCACCCCAGAGCTAGTGTTTTGTTTCATTTTCAGTCCTTTGAGGATTCTTGCTCCTTATTTCCCCATCAGGGAGGAGCTAGAACAGAAAGCCCATACTGGAGTTAGGATTGTACAGCTCTGGAGTTTGGTAGGTTGGGGTTGGGCAGTGTTGGTTGAGGAAAGTGTCCCCTGCCCTGCCTCCAGTCTGAGAAAGGGCTCAGAGCATCTCCTGGTGTTGATACATTTGTAACCAGACGCCAACCCTGACATGTCCAGTGTGCTTTCACTTGCTAAGACCCTGCAGCAGCTTTGTTTTAAAGTCATGTAACTCATTTTTGAATGCCTTTTCTTTCTTAAAGAACTTTCTGGTCATAATAATAGCTGGCATTGATTGACAGACCTGAGCTTTCCCTTAGATTTCTTAGGACTGTAAATGCAGCCCACTCGCTGTCTGCACGCTTTCTGGGATGAGGGGATGCCAAGTAGTCCCTACCCTCTTTAAAAATATCGGTGGGAACCCAAGCTAGTGTGAGGATGAGGGAGGTGCCTTGTAAAAGCCACAAAAGAAGGGATGAAAACAGAAAACTTTTATATTGTCAAATGTTGTAAACAAAGTCAACAACATGATAAACTGAAGAAATTATTGACAGTGGACATGGCATACAAGATGTTAAGTCCATGATGTATAAAGAGGTTCGGATCAAGGAGGGACAGTCCTATGGAAACTGGGCCGAGTATATAACGGAATCCACCAAGGAAGAAAGCGGAATGGCCAATAAGCATATGCAGAGATTCTTGACTAGTAATCAGAGCAGGGCAAACAAAACAACCCATATGCCAGTTTTTGTTTATCATATTGTAAAAATTTAAAGATTGATGATCTCTACCCCGCACAAGAAACGAGGTGAACAGGTGCTCTTGAAATACTGTGGATGTGAATACAGGTTGACTGAGCTGGTATCTCCACTGCCACCACCGTCGTCCAGGCTGCTGTGGGCTCCAGCCTGAACTGTTATAAATGCCCTAGCACCTTTTCTTGGCCCAAATCACTTCTGGACACAAATCAGACCCTGCTACACTACTCTTTAAAACCCTTCAGTAGTTTACGCTCTGCCCAGTTTGAACACTGAACCCCATCACCCGTCCCTCAAGGCTCTGCGTGGCCTCACTCCCGTTTACCTCTTCATCCTCATATAGGCCCCCTTCCGTGTTCCCTTGCCCTTCATCCACACAGGTCACACGCAGCTCATTTCCTCCCGGGTGCTGCTGTCTTTTCTGCCTGGAGCCTTTGCAGTTTGCAGGTGTTTTACTCTGGAAAGTCCCACCTCACCTCCACAACTTTTCAACCTTCAGGTCTCAGCTCAAGTGGCACTTCCATAGGAAGCTGTTTAAAATAAATGCCCAGTAAAATGGTCTTGGTTAAATACGTTATTGTACAGCTACACACTGGAATGCTCTGTAGCTGTTTGGAAAAAAGATAAAATGCTTGTGTTTTCCCTAGGTAAAGATGTTCATGATGTGTTATTAATTGAAGAAGTTTGAGAGTAATTTGTATAGTTTGCTACCATTTTGGTAAAAAATGTGTACCTTCATATATTTGTGATTTTATACACACACACACACACACACACACACACACACACACACACAGAAAAGAGTCCAAAAGGATACTCACCAAGAGTAATTGGCTGCCTTTTAAGGAGTACAATTTTGGGGTGAGGTTCACATTTTAAAAAATAACTATTGAAATATAATTTTTATACAATTACATTTTTGCATGTACAGCATTTAACAAATGTGTGTATCCAGGCAAACCCCACCTCAGCTCAATTCTGGCCCCACCCTAGGAATGTTGGTGGCTGTTAGGGTTATTTTGGTTGTTTGTATAGTGAGTTCCTGCAGTCTGTCTCCCCGGGAGCGTGCGGCAACTGATGTTTTGACTTAGGTCTTTTGGTTCTTTTGGTTTTTAAGTTCTTGTTTTTATCTTTAAGCCTGTCTTCCTGAGTGCTGGCCCTGGCTCCGCATAGCTTAGTGGTCAGCCACTGATTGGTCAGAGGTTGTGCTTCAGCACCCCTGATGTGTTTTCATAACCTCCCTGGGTGTGGGGCTTCTCAGTGGCTGCTGCAGCGTGGAGCTGGAAAGGAGGGAAGTGGGAGCCGCCCTGTGTAGAAACACCATGGGCACTTGCTGTTCTTACTGAGATTCCGTGTTTTTTCTTAAATAAGCACTTCTCAATCTGTTCTATAATTTTGGTGAATTTCCAAAGTACTAAAATGGTTGCTTTTGACAGTTTCATCCAGTTTTATTATTGCTCCTGGGAGAGAGATTTTGCCGAGCTCCTCCCTGTGGCATTCCAGAAGTCTGGATAATTCATACTTGCATTTATTTATCGTTAAAGATGTCTCGGTAAAATTATTTCACCTGCTGATGTTACCCAGGTTCCCGTTTATTTTCATTGCACAGGTTCCAGGATGCCAGTGCTGGCTGGGGTGGCTGTATAACTCTAAATCACAGAGATCTGTTACCCATTACCATGGCCTCTTAGGTTCTATGCTAAACTCAGGGAAATTCTTGACTCAATTCTATTATCAGAAGGGTATAAGGGCAAGTCACCTCCCACCCCTCCCAGAAAATATGGGGCAACATTGAGGGTGGGAGCAGAAGAGACTATCCCAGTGGCCTCCCTGGCCCCCAGTTCACTTTGCAAATTGCTGAAAGTTCACGCTTTAGGACTGCTTTCATCCTGGTTTTCCACTCAAAGGTAGACATTGGAATTGCTGGATTGTTAGGAGTCGTATGGACTTTGCTTGTCACGTGGAGATTTGAATCTTAATTGGGACCTGGCAGAGGCTTTGAATACACAGGTTAATGTTTCTAATGTATACCTCACTTTGCCGTTTGCTTCAGCTACATCGCAAACCCATAGCTGCTTCTCTGGCTGTTGCCGTCGTCTCGCTATCCCTAGCCGCCTCCTTTAACCTCTTGTCAGCTGGAAAGATTATTAGGAGCCATGAATGTCCTTTAATATGGTTATCTTTGTTACTATTGAGTTTACAGTTTTTCACCAGAATCTATGTGCCTCTTTCTCTTCTTTACCCTAATTACTGTCCTAACATTGACCCAGCCACCAGTACTAGGGATGCCCTAGCTTTATGCTCACCTATTTTATCCATAAAAAATCTTCAGACCAGCCTGGGCAACATAGCGGGACCCTGTATCTACCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGTGTGGTGCCACACACCTGTAGTTCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCGCTTGGGCCCAGGAGTTCAAAGCTGCAGTGATCCCTGATTGCATGACTGCACTCCATCCTGAGCAACAGAGAGGGACCCTGTCTCAAAAAAAAAAAAAAAAATCTTCAGTGCCCTTTTCATGCTCCGGTTTTGGATTCAGTGGCCTAATTCTTGCATTTTCTGACTGCAGGCATTGATGACGGGGAGCCTTCCTGGCTTTGTCGACGTCATCAGGAACCTCAATTCTCCTGCACTGCTGGAAGACAGTGTGATAAGACAAGCAAAAGCAGCTGGAAAAAGAATAGTCTTTTATGGAGATGAAACCTGGGTTAAATTATTCCCAAAGCATTTTGTGGAATATGATGGAACAACCTCATTTTTCGTGTCAGATTACACAGAGGTCAGTTTTTAAAATAAGAAAATATATCATACTAGAATATCATACTAGATAGAGCCTGGCATCCCATTACTTAGTGAGAGATGATACCATTTTATATTTGGTTTTATTAATTTATAGGGAGTACTATGGACAGGTGTAAAAATTATTCACTCACATAATCAGTTAACAACCCAGAAATACAAACCTGAAGCAGGTGTGAGCAGAGTTTTATGGA	C	T500181C	PIGG	NM_001127178.3(PIGG):c.155-215_570+216del	noncoding	Pathogenic
4	500547	TCA	T	C500550G	PIGG	NM_001127178.3(PIGG):c.309_310del:p.His103fs	coding	Pathogenic
4	505632	C	CAAA	T505650A	PIGG	NM_001127178.3(PIGG):c.361-71_361-69dup	noncoding	Benign
4	505632	C	CAA	T505650A	PIGG	NM_001127178.3(PIGG):c.361-70_361-69dup	noncoding	Benign
4	505632	C	CA	T505650A	PIGG	NM_001127178.3(PIGG):c.361-69dup	noncoding	Benign
4	505667	ATGCTCCGGTTTTGGATTCAGTGGCCTAATTCTTGCATTTTCTGACTGCAGGCATTGATGACGGGGAGCCTTCC	GACTT	A505667G	PIGG	NM_001127178.3(PIGG):c.361-51_383delinsGACTT	noncoding	Pathogenic
4	507403	AG	A	G507405T	PIGG	NM_001289052.2(PIGG):c.361-1424del	noncoding	Pathogenic
4	508828	G	GGA	C508839G	PIGG	NM_001127178.3(PIGG):c.768_769dup:p.Thr257fs	noncoding	Pathogenic
4	508851	AT	A	T508854G	PIGG	NM_001127178.3(PIGG):c.785del:p.Leu262fs	coding	Pathogenic
4	508969	CG	C	G508971T	PIGG	NM_001127178.3(PIGG):c.901+1del	coding	Pathogenic
4	516024	TG	T	G516026C	PIGG	NM_001127178.3(PIGG):c.955del:p.Ala319fs	coding	Pathogenic
4	516174	CAT	C	A516177G	PIGG	NM_001127178.3(PIGG):c.1106_1107del:p.Ser368_Tyr369insTer	coding	Pathogenic
4	518412	TGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCATGGTGGCAGGCGCCTGTAGGCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGACACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAACAAAACAAAAAAGATACCAACAAAATCAAAACAACAATGGAAGGGTTATTTGCCTGTTCCAGAAGTAGTGGCTGGGGGAAGATGGGAACCACAGTGGATATGAGAGGAAACCAGCCTGTTAAAGGAATGCAGGAGCCTCCCTTGACTGAAAACACAGCCACAGCGTCTGGAACCCCCCCTGGCGGCCCATTGTCTACACCGTCGGGGATCCTTTTTCCTAAAACAAAATGGGGTATGTGTTCTGACACTGAAATACGTTTTAGAACCCACAGCCAGGCCCGTGCAGTCCCTCGGTGGCGTCCAGTCTGTTGGAGGCTTTGTGCCCACCCGGCTCTCTCAGTGTAGTGGGACCGGCTTTTTCTCACCTCTGGACTTTTGCACATGCTGTTCCCATCAGCTTGATGCTCTTCCTGCAGTTTTTTGCCTGGCGAATTCCTGGGTACCGTTTACATTTCAGCGTAAACATCAGACCTTCCTGGTCCAGCGCCCACTCCCAATCCAAAATCAGTTCCTCCCCATTACCAAAAATCCCTCATTGATACCCTCTACTTTTCCTTCCTGGGAAACTTGTAATTACAGCTGTAATGCAGTCACAGTTTGTAATTACGCTTGTGTGCGTGCGTGCGTGTCTGTGAGCCCTACTGGATCCAAGCCCCAGCAGGCAAGGATTGCACCTGCTTGCTCGCCATGCTGTGTCTCCCCTGGCACAGCGCCTGGCACAGTGCCTGGCACGTCGTCCACGCTCCATGGATATTTGTTTCGATGCATGCACAGGTGCACCCCCATAGCTTTGTGACTCTCTGATAGGCGGTGGGGTGTGGACACAGGCGTCCCCCCATCCAGGGTGGTAGGTGTAGCAATGAAGGATGCCAGCCCTGGAACCAGACTGCCTGAGTTTCATTTGCAGCTTTTACCCACTGGCACTGTGGCCCAGGTGCGTGACTCACCCTCTGTGTCTCAGTTGCCTCCTCTGGATAACAGTTCTGATGCTCATCCCTGCCTCATAGGGTCATTAGGGAGGTGAAACGAGCGAGCCGCCTAGTGTTGCTGGCTACTGGCACTTAGTGCAGAGCACCTGGTGCCGGCAGCAGTGGGGTGGGCCTGCAGGCGTGTGGGTTCATGCTTAGGGACTTGGTGCCTGCAGCAGTGGGGTGGGCCTGCAGGCGTGTGGGTTCACGCTCAGGGACCTGGTGCCGGCAGCAGTGGGGTGGGCCTGCAGGCGTGTGGGTTCATGCTTAGGGACTTGGTGCCTGCAGCAGTGGGGTGGGCCTGCAGGCGTGTGGGTTCACGCTCAGGGACCTGGTGCCGGCAGCAGTGGGGTGGGCCTGCAGGCGTGTGGGTTCATGCTTAGGGACTTGGTGCCTGCAGCAGTCGGGTGTGCTTGCAGGCGTGTGGGTTCACGCTCAGGGACCTGGTGCCGGCAGCAGTGGGGCGGGCCTGCAGGCGTATGAGTTCATGCTCAGGGACTTGTGCCACAGCACCCTGGACCTCAGTGGCTTGAGCGCCTGTGGCAGCTCTTTCACTGCTGTGATAGCAGGCCTGGGGCATGCAGAGCCACAGGGTGGGGCGAGCCTGCCAAGAGGCACAGCTGAGACCCTTCTTGGCATGGCTCTTCTGGAGTAGGAAGCTCATGTCAAATACCGAGGGGGTCTCAGGAAGGAAGTTGTTGCTTTGCAGACCAGTCTAATCACAAGTGAGTGTGGTCCCGGCAGAGGCTCACGCATCAGCCAGCTCGGGAAAGAAAGAACATCAGCTGTGCCGTGAGCAGCATGGCACTGTGGTTTAAAAGAGGTTGCCATAGCAGAGGGGCAGGGCTCCATCCAGAGGCAGGGCATCCATGCGCCCAGCAGAGCTCACCCTTGTGAGCAGAGAGGGCTGGAAGCTCTCTTTCCAAAGAGGTTGTAAGGAAGTAACCCAGGCTGCAGAACGGGGGACGTTAGAGGTCGGGAAGGGCCAGTCTGCACTGGGGAAGTGGGTGTGGCAGAGAAGGGTCAGGCCGCTGCCTGCCCAGTCCCCATACAGTGCTGTAAGGGTTAGAAAGACTCTAAAACCTGACTGTTGACATAATGCATTTCAGGATTGTTTTTATATTGCACGTTGACAAGAAGGAGAGAGTGGAAAGAGACAGAACAGGGAGAAGGAAGTAAGAGCGATGAGGGAGGCAGAGAAGGAGGCCAGGCAGCACAGGGGTCAGTCACTGCCATCCGCGGGTGTATGCCAAGGACCAAGGCCTGCATCGCCAGAGGGCAGATGGATGCACATTGGCAGCTTTCCCAGCTTTACAGAAGGCGTTGCAGACCCCCCACCCAAAGGAATGATTGATCTTCATTAAGCGTCAGTTGTGAAAAGTGAAGGCTTTGCCGTGTGCCATGCATAACCGAATACTTTGAGATTATGTATATAAATGTATGTTCACGGTGTGTGTGCGCGCCTGTAACCTTTCTGTCTTCTTAATAGATCCTGGGTTTGAGCAGTTTAAAATGTCAGAAAGATTGCATGGGAACTGGATCAGACTGTACTTGGAGGAAAAGCATTCAGAAGTCCTATTCAACCTGGGCTCCAAGGTTCTCAGGCAGTACCTGGATGCTCTGAAGACGCTGAGCTTGTCCCTGAGTGCACAAGTGGCCCAGTACGACATCTATTCGATGATGGTGGGGACTGTCGTGGTTTTGGAGGTACAGATGCTCACACAGTCATGGCTCAGGTGTTGCATTGATTTGATAACTCAGCCAAATATTTATAGTTTTAAATATATATATAGGTGTTATTAAAAATGGGAAAATATTAATTTTCTTGTTTAACTCTTTCGTGGTGTGTCCTGATTTGTGACAAGACCCAGAGTATTGTCAGTGTCAATTGGCCTCACTCAGTATTGCTGCAGGTGATAAAAAAAAATCATGCCATGCATTTTGGGGCAGTTAATTAGGAATCATCTTTTCCTGAGCTTGCTTTTCTGTTTTTACTGTGTGGACAGCTGACACGAGAGCGGGAGCTGGGCTTATTTTTAAGTGGGTTTCTCCAAGCCCAGCAGTCTGTGGATGCTGCTGTTTCTCTGTTCCAGGTTCTCACCCTGCTCCTGCTCAGCGTCCCACAGGCACTGCGCAGAAAGGCTGAGCTGGAAGTCCCACTGTCATCTCCTGGGTTTTCTCTGCTCTTTTATTTGGTGATCCTGGTTCTTTCGGCCGTTCACGTCATTGTGTGCACCTCAGCTGAAAGTTCGTGCTACTTCTGTGGCCTCTCGTGGCTGGCGGCAGGTGGGGTGATGGTGCTGGCCTCGGCGCTGCTGTGTGTGATTGTGTCTGTTCTGACCAACGTGCTCGTGGGTGGAAACACCCCAAGGAAGGTACGTACGGCTGGTTCCTGGGAGTGTGACGTAGTCCTTCTGCTCAGGTTGTTCTTGTTATTTCAGGCTGCCTTTCGTTTACCAGACTCTGGTTGAACACCTGGTGTGTGCCACGTGCTGGCAGTGCCCTGGACAGGGGGCCTCAGGGAAGGACGTGGAGCAGCCTTATCCCAGGCCTCTGGGTGTCCCGACACAGGTGTTCACATCTGTGCTGTCAGGTCAGATGCCTCAGTTCTTGGAAAGCTAGGTTCCTGCGACTGTTACCAAGGTGATTGTAAAGAGCTGGCGGTCACAGAGGAACAAGCCCCCCCGCTGAGGGGGTGTGTGAATCGGACAGCCTCCCAGCAGAGGTGTGGGAGCTGCAGCTGAGGGAAGAAGAGACAATCGGCCTGGACACTCAGGAGGGTCAAAAGGAGACTTGGTCGCACCACTCATCCTGCCACCCCCAGAATGCATCCTGCCTCATCAGGTCCAGATTTCTTTCCAAGGCGGACGTTTTCTGTTGGAATTCTTAGTCCTTGGCCTCGGACACCTTCATTCGTTAGCTGGGGAGTGGTGGTGAGGCAGTGAGGAAGAGGCGGATGGTCACACTCAGATCCACAGAGCCCAGGATCAAGGGACCCACTGCAGTGGCAGCAGGACTGTTGGGCCCCCACCCCAACCCTGCGCAGCCCTCATCCCCTCTTGGCTTGAGCCGTCAGAGGCCCTGTGCTGAGTGTCTGACCGAGACACTCACAGCTTTGTCATCAGGGCACAGGCTTCCTCGGAGCCAGGATGATCTGTGCCACGCTTGCACCTCGGGCCCATCTGGGCTCATGCTCTCTCTCCTGCTATTGAATTAGTACCTAGCTGCACGCAGTATGTAGTTACCAAAAGAATAAACGGCAATAATTGAGTCCTCATCTTTACTTTTGACTGCTTTAAGTTAGTATATTTAAGAGACAGTACTGTGATGCCAACTTTGTCATTTCAACAGAATTAACCATTTTAGTGGAAACGTTCTGGATTTCTAGAATATTCCTGGAGAAATTTGAGGTCTGGTTTGGTGGGATGTATTGTTGAGGTTCTTTGGTTTCAAGAAGCAGGCACTGGCGACGTGCATCTGAAGACCTAAGCTCTTCCAGAGCCTGGAAGCGGGAGCGTGGAGGGCCGGGTCCAGGAGCCTTTGGGCAAGCTCTCTGGGCTGCACCACTGCCCAGAGGGTTCTGACCATTTTCAGTCTTTGTCACTCACCTTGGGACTTGGAGTCCAGTGTGAGAACAGCTGGCTGGCCGTGCAGTGTCCGGCTCCCCTGCCTGGGCTGAGGGCGTCTCCACTCCTGCAGGCTGCGTCCCAAGAGGAAGGTTCCTGCCGTTGGAGCAGAAGGGGGCTGTTCCAGAGTAGGGGCCCAGGTGCTGGGTGTGAGGAACAATGGTGTGTGTCCAGGGCATTCTCTGCTGTGAGCAAGGACTTGACATGCAGCAAGATGTGTGTCGTTATCAGACCGTCTCTTACAAAGTGCACTTTCCTTTTCACAGAACCCCATGCATCCCAGCTCAAGGTGGTCAGAGCTAGACCTTCTTATTCTGTTGGGGACGGCGGGCCACGTCTTGAGCCTGGGCGCCAGCAGCTTCGTGGAGGAGGAGCACCAGACCTGGTACTTCCTTGTGAACACCCTGTGTCTAGCTCTGAGCCAAGAAACCTACAGAAACTACTTTCTGGGAGATGACGGTGAGCCTCCGTGTGGCCTCTGTGTGGAACAAGGGCATGACGGGGCCACAGCAGCGTGGCAGGACGGGCCTGGCTGTGATGTCCTGGAGCGAGACAAAGGCCACGGAAGCCCCTCTACCTCCGAAGTGCTCAGAGGCCGCGAGAAGTGGATGGTGCTGGCCAGTCCGTGGCTAATACTGGCCTGCTGCCGGCTGCTGCGCTCCCTAAACCAGACAGGTGTGCAGTGGGCTCACCGGCCTGACCTCGGCCACTGGCTCACCAGGTGAGAGCGTAGGCCCGTGGCCACAGGCCAGACTTTCTACGGCCGATTGGTCACCTGCCAAGCTCTTCTTTTTCTAAATTGAGACCATTTTTCATATTAAGAATGGGATAGTATTTGAGATCTGAAGAATTGGGAAAATACACTAAAACCAGTGTTTTACTGGATACTAGAATCAATGTTGAGAAGTGAATTTATTTGGGGGCTAGCCTAACAGGTTTCATTTATTAGTGCTGAACCACTGTAACTGTTCATGATTGAAAACTTGTGTTTCAGTGATCATTATATAGTAAAGATGCTATGTGGGGGTCAAGCTTGCTAGTGGCTTGTTCTGGACGCCTCGTCCATGCCTGGGCTGTGTGCCCCCCGCCCATCACTCAGTGTCTGCCTGTGTCAGGCCATTCGTGTGTTGCTATAAAGAAACACCTGAGGCCGGGTCACATGTAAGGAAAGAGGTTCATCTTGGCTCTCAGCTCTGCGGGCTGCACAGGAGGCATGGTGTCGGCATCTGCTCCTGGAGAGGCCTCAGGAAACTGGCGGTCATGGCGAGGGCAAAGCAGGAGCCAGCACTTCACGTGGCGAGAGCAGGAGAAAGAGAGGGATGAGGAGGGTGTCCGGCACTTTTAAACATCAGCTCTCTTGTGAACAGCCACAGCGAGAATGCGCTCATTACTGCGAAGATGGCACCAAGCCATTCGTGAGGAATCTGCCCCCATGACCCAGACGTCTCCCACAAGGCTCACTTCCAACACTGGAGGTTCAGTGTCTTTTTTTTTTTTCTGAAACGGAGTTTCACTCTGTCACCCATGCTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAATCAA	T	A518415G	PIGG	NM_001127178.3(PIGG):c.1114+2230_2069+847del	noncoding	Pathogenic
4	521112	CTG	C	G521114A	PIGG	NM_001127178.3(PIGG):c.1173_1174del:p.Tyr392fs	coding	Pathogenic
4	521149	AC	A	C521151T	PIGG	NM_001127178.3(PIGG):c.1210del:p.Leu404fs	coding	Pathogenic
4	521870	GCC	G	C521871T	PIGG	NM_001127178.3(PIGG):c.1544_1545del:p.Ala515fs	coding	Pathogenic
4	523576	TGG	T	G523577T	PIGG	NM_001127178.3(PIGG):c.1733_1734del:p.Trp578fs	coding	Pathogenic
4	523646	AT	A	T523647G	PIGG	NM_001127178.3(PIGG):c.1803del:p.Asp601fs	coding	Pathogenic
4	523766	C	CT	A523768T	PIGG	NM_001127178.3(PIGG):c.1923dup:p.Thr642fs	coding	Pathogenic
4	523837	TG	T	G523838C	PIGG	NM_001127178.3(PIGG):c.1994del:p.Cys665fs	coding	Pathogenic
4	527176	CG	C	G527178C	PIGG	NM_001127178.3(PIGG):c.2209del:p.Ala737fs	coding	Pathogenic
4	527289	GAC	G	A527292G	PIGG	NM_001127178.3(PIGG):c.2261+62_2261+63del	noncoding	Benign
4	530460	TTA	T	A530462G	PIGG	NM_001127178.3(PIGG):c.2288_2289del:p.Tyr763fs	coding	Pathogenic
4	625648	GC	G	C625651G	PDE6B	NM_000283.4(PDE6B):c.25del:p.Arg9fs	coding	Pathogenic
4	625705	CTG	C	T625706A	PDE6B	NM_000283.4(PDE6B):c.80_81del:p.Leu27fs	coding	Pathogenic
4	634837	T	TG	C634844G	PDE6B	NM_000283.4(PDE6B):c.621+14dup	noncoding	Benign
4	635961	C	CT	G635962T	PDE6B	NM_000283.4(PDE6B):c.703_704insT:p.Arg235fs	coding	Pathogenic
4	653895	AC	A	C653896A	PDE6B	NM_000283.4(PDE6B):c.756del:p.Asp252fs	coding	Pathogenic
4	653906	C	CA	G653908A	PDE6B	NM_000283.4(PDE6B):c.767dup:p.Phe257fs	coding	Pathogenic
4	654089	GAC	G	A654090G	PDE6B;PDE6B-AS1	NM_000283.4(PDE6B):c.863_864del:p.Asp288fs	coding	Pathogenic
4	656876	AG	A	G656880C	PDE6B	NM_000283.4(PDE6B):c.1114del:p.Ala372fs	coding	Pathogenic
4	657496	TGCGGCGGGGCAGGACGTCCAGGGGTCACCCAGGGGTCACGGCTGTGTG	T	G657499A	PDE6B	NM_000283.4(PDE6B):c.1401+5_1401+52del	noncoding	Benign
4	660484	G	GC	A660488C	PDE6B	NM_000283.4(PDE6B):c.1488dup:p.Thr497fs	coding	Pathogenic
4	662550	C	CG	C662552G	PDE6B	NM_000283.4(PDE6B):c.1765dup:p.Ala589fs	coding	Pathogenic
4	662834	TA	T	A662856G	PDE6B	NM_000283.4(PDE6B):c.1832+238del	noncoding	Benign
4	662834	T	TA	G662857A	PDE6B	NM_000283.4(PDE6B):c.1832+238dup	noncoding	Benign
4	663106	G	GA	C663109A	PDE6B	NM_000283.4(PDE6B):c.1841dup:p.Asn614fs	coding	Pathogenic/Likely_pathogenic
4	663775	GAACATCTACCAGAACCTGAACC	G	A663776G	PDE6B	NM_000283.4(PDE6B):c.1927_1948del:p.Asn643fs	coding	Pathogenic
4	663775	GAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGT	G	A663776G	PDE6B	NM_000283.4(PDE6B):c.1927_1967del:p.Asn643fs	coding	Pathogenic
4	664068	CT	C	T664069C	PDE6B	NM_000283.4(PDE6B):c.2022-45del	noncoding	Benign
4	987143	CG	C	G987144C	IDUA	NM_000203.5(IDUA):c.60del:p.Pro22fs	coding	Pathogenic
4	987170	CG	C	G987171C	IDUA	NM_000203.5(IDUA):c.87del:p.His30fs	coding	Pathogenic
4	987214	CG	C	G987216C	IDUA	NM_000203.5(IDUA):c.132del:p.Arg45fs	coding	Pathogenic
4	987814	CG	C	G987815C	IDUA	NM_000203.5(IDUA):c.165del:p.Leu56fs	coding	Pathogenic
4	987858	CA	C	A987859G	IDUA	NM_000203.5(IDUA):c.209del:p.Gln70fs	coding	Pathogenic
4	1024115	CGGGCGCTGGCGGGCGGGGGGTGCTGGTGGGCGG	C	G1024135T	FGFRL1	NM_001004356.3(FGFRL1):c.718+34_718+66del	noncoding	Benign
4	1216221	C	CA	C1216223A	CTBP1	NM_001012614.2(CTBP1):c.515-17dup	coding	Benign
4	1380225	CT	C	T1380226G	UVSSA	NM_020894.4(UVSSA):c.1748del:p.Leu583fs	coding	Pathogenic
4	1793812	GCTGCCTTC	G	G1793815C	FGFR3	NM_000142.5(FGFR3):c.-102-18_-102-11del	noncoding	Benign
4	1804285	TG	T	G1804296C	FGFR3	NM_000142.5(FGFR3):c.1076-34del	noncoding	Benign
4	1804285	T	TG	C1804297G	FGFR3	NM_000142.5(FGFR3):c.1076-34dup	noncoding	Benign
4	1807400	CGT	C	T1807418C	FGFR3	NM_000142.5(FGFR3):c.*140TG[8]	noncoding	Benign
4	1814549	CT	C	T1814551C	LETM1	NM_012318.3(LETM1):c.2094del:p.Asp699fs	coding	Pathogenic
4	1834964	CCTT	C	T1834969A	LETM1	NM_012318.3(LETM1):c.751AAG[1]:p.Lys252del	coding	Pathogenic
4	1849223	A	AG	A1849228G	LETM1	NM_012318.3(LETM1):c.83-15dup	noncoding	Benign
4	1849227	G	GA	T1849232A	LETM1	NM_012318.3(LETM1):c.83-19dup	noncoding	Benign
4	1918125	C	CT	C1918136T	NSD2	NM_001042424.3(NSD2):c.928-6dup	noncoding	Benign
4	1918313	CAG	C	A1918316T	NSD2	NM_001042424.3(NSD2):c.1103_1104del:p.Glu368fs	coding	Pathogenic
4	1918379	CTG	C	T1918382A	NSD2	NM_001042424.3(NSD2):c.1169_1170del:p.Val390fs	coding	Pathogenic
4	1918573	G	GGA	T1918578G	NSD2	NM_001042424.3(NSD2):c.1363_1364dup:p.Asp455fs	coding	Pathogenic
4	1935164	A	AG	A1935166G	NSD2	NM_001042424.3(NSD2):c.1577dup:p.Asn527fs	coding	Pathogenic
4	1935174	C	CAA	G1935178A	NSD2	NM_001042424.3(NSD2):c.1588_1589dup:p.Ile532fs	coding	Pathogenic
4	1938441	T	TA	T1938445A	NSD2	NM_001042424.3(NSD2):c.1675-7dup	noncoding	Benign
4	1951136	CTG	C	T1951137A	NSD2	NM_001042424.3(NSD2):c.1947_1948del:p.Glu650fs	coding	Pathogenic
4	1956129	A	AG	A1956135G	NSD2	NM_001042424.3(NSD2):c.2827dup:p.Asp943fs	coding	Pathogenic
4	1959704	A	AGGGT	G1959712T	NSD2	NM_001042424.3(NSD2):c.3223_3226dup:p.Gly1076fs	coding	Pathogenic
4	1978831	GC	G	C1978839A	NSD2	NM_001042424.3(NSD2):c.4028del:p.Pro1343fs	coding	Pathogenic
4	2824491	C	CA	G2824492A	SH3BP2	NM_001122681.2(SH3BP2):c.240-122_240-121insA	noncoding	Benign
4	2827586	A	AC	T2827593C	SH3BP2	NM_001122681.2(SH3BP2):c.518-14dup	noncoding	Benign
4	3074876	CCAGCAG	C	G3074930A	HTT	NM_001388492.1(HTT):c.58_110=:p.Gln20_Gln37=	coding	Benign/Likely_benign
4	3074876	C	CCAGCAGCAGCAG	A3074936G	HTT	NM_001388492.1(HTT):c.54GCA[25]:p.Gln33_Gln38dup	coding	Benign
4	3074876	C	CCAGCAGCAGCAGCAG	A3074936G	HTT	NM_001388492.1(HTT):c.54GCA[26]:p.Gln32_Gln38dup	coding	Benign/Likely_benign
4	3086922	C	CT	A3086931T	HTT	NM_001388492.1(HTT):c.264-9dup	noncoding	Benign
4	3154286	AT	A	T3154290A	HTT	NM_001388492.1(HTT):c.3499-3del	noncoding	Benign
4	3228683	AGAG	A	A3228694C	HTT	NM_001388492.1(HTT):c.7919AGG[3]:p.Glu2643del	coding	Benign
4	3463021	CG	C	G3463025C	DOK7	Single_allele	noncoding	Benign
4	3463450	C	CG	C3463463G	DOK7	NM_173660.5(DOK7):c.54+33dup	noncoding	Benign
4	3463450	C	CGG	C3463463G	DOK7	NM_173660.5(DOK7):c.54+32_54+33dup	noncoding	Benign
4	3463450	CG	C	G3463462C	DOK7	NM_173660.5(DOK7):c.54+33del	noncoding	Benign/Likely_benign
4	3463488	TC	T	C3463494T	DOK7	NM_173660.5(DOK7):c.55-12del	noncoding	Benign
4	3463582	CG	C	G3463587T	DOK7	NM_173660.5(DOK7):c.100+36del	noncoding	Benign/Likely_benign
4	3473087	GC	G	C3473090A	DOK7	NM_173660.5(DOK7):c.101-316del	noncoding	Benign
4	3492915	CCATG	C	C3492916G	DOK7	NM_173660.5(DOK7):c.930_933del:p.Met311fs	coding	Pathogenic
4	3492957	CGCGGCAGCTGCAGGAGGTTGGCCGCCAGAGCTCCTCGGACA	C	G3492964T	DOK7	NM_173660.5(DOK7):c.978_1018del:p.Gln326fs	coding	Pathogenic
4	3493242	GC	G	C3493249T	DOK7	NM_173660.5(DOK7):c.1263del:p.Ser422fs	coding	Pathogenic/Likely_pathogenic
4	3493249	CT	C	T3493250C	DOK7	NM_173660.5(DOK7):c.1264del:p.Ser422fs	coding	Pathogenic
4	3493306	CG	C	G3493309T	DOK7	NM_173660.5(DOK7):c.1323del:p.Cys442fs	coding	Pathogenic
4	3493358	G	GC	A3493365C	DOK7	NM_173660.5(DOK7):c.1378dup:p.Gln460fs	coding	Pathogenic/Likely_pathogenic
4	3500055	TG	T	G3500063C	DOK7	NM_001301071.2(DOK7):c.1541-188del	noncoding	Benign
4	3518076	GGTCC	G	G3518077A	LRPAP1	NM_002337.4(LRPAP1):c.705_708del:p.Asp236fs	coding	Pathogenic
4	4859341	GGAGGGGAGGA	G	G4859346A	MSX1	Single_allele	noncoding	Benign
4	4860398	AGGGGGCCGGGT	A	G4860414T	MSX1	NM_002448.3(MSX1):c.469+46_469+56del	noncoding	Benign
4	4862746	A	ACCGTAAG	C4862757T	MSX1	NM_002448.3(MSX1):c.519_525dup:p.Arg176Ter	coding	Pathogenic
4	4862807	C	CTAG	C4862808T	MSX1	NM_002448.3(MSX1):c.576_577insTAG:p.Gln193Ter	coding	Pathogenic
4	4862911	C	CA	G4862915A	MSX1	NM_002448.3(MSX1):c.683dup:p.Arg229fs	coding	Pathogenic
4	5565268	TC	AA	T5565268A	EVC2	NM_147127.5(EVC2):c.3648_3649delinsTT:p.Lys1216_Arg1217delinsAsnTer	coding	Pathogenic
4	5565282	A	AT	G5565283T	EVC2	NM_147127.5(EVC2):c.3634_3635insA:p.Leu1212fs	coding	Pathogenic
4	5565672	C	CA	G5565690A	EVC2	NM_147127.5(EVC2):c.3558-330dup	noncoding	Benign
4	5568232	AT	A	T5568243A	EVC2	NM_147127.5(EVC2):c.3557+211del	noncoding	Benign
4	5568473	T	TCCGCC	A5568479C	EVC2	NM_147127.5(EVC2):c.3523_3527dup:p.Gln1179fs	coding	Pathogenic
4	5568512	G	GGT	G5568516T	EVC2	NM_147127.5(EVC2):c.3487_3488dup:p.Glu1164fs	coding	Pathogenic
4	5576272	CT	C	T5576274G	EVC2	NM_147127.5(EVC2):c.3239del:p.Lys1080fs	coding	Pathogenic
4	5576317	AT	A	T5576318C	EVC2	NM_147127.5(EVC2):c.3194del:p.Asp1065fs	coding	Pathogenic
4	5584621	AC	A	C5584624G	EVC2	NM_147127.5(EVC2):c.3057+1del	noncoding	Pathogenic
4	5584725	GT	G	T5584726A	EVC2	NM_147127.5(EVC2):c.2954del:p.Tyr985fs	coding	Pathogenic
4	5615453	TCA	T	C5615456G	EVC2	NM_147127.5(EVC2):c.2796_2797del:p.Cys932_Glu933delinsTer	coding	Pathogenic
4	5618545	A	AAT	T5618548A	EVC2	NM_147127.5(EVC2):c.2637_2638dup:p.Phe880fs	coding	Pathogenic
4	5618647	TCTTCAGACAGGGA	T	C5618648G	EVC2	NM_147127.5(EVC2):c.2524_2536del:p.Ser842fs	coding	Pathogenic
4	5622632	AC	A	C5622635T	EVC2	NM_147127.5(EVC2):c.2405del:p.Gly802fs	coding	Pathogenic
4	5625773	CTTAGT	C	T5625775A	EVC2	NM_147127.5(EVC2):c.2017_2021del:p.Thr673fs	coding	Pathogenic
4	5625775	T	TA	G5625777A	EVC2	NM_147127.5(EVC2):c.2019dup:p.Lys674Ter	coding	Pathogenic
4	5625784	AT	A	T5625789G	EVC2	NM_147127.5(EVC2):c.2010del:p.Lys670fs	coding	Pathogenic
4	5625803	C	CT	C5625808T	EVC2	NM_147127.5(EVC2):c.1991dup:p.Lys665fs	coding	Pathogenic
4	5628578	GGTGAGTCAGC	G	G5628579T	EVC2	NM_147127.5(EVC2):c.1857_1866del:p.Gln619fs	coding	Pathogenic
4	5628689	A	AC	T5628692C	EVC2	NM_147127.5(EVC2):c.1755dup:p.Tyr586fs	coding	Pathogenic
4	5628743	TA	T	A5628754C	EVC2	NM_147127.5(EVC2):c.1711-10del	noncoding	Benign
4	5628743	T	TAAA	C5628755A	EVC2	NM_147127.5(EVC2):c.1711-12_1711-10dup	noncoding	Benign
4	5628743	T	TA	C5628755A	EVC2	NM_147127.5(EVC2):c.1711-20dup	noncoding	Benign/Likely_benign
4	5631567	TG	T	G5631576A	EVC2	NM_147127.5(EVC2):c.1710+225del	noncoding	Benign
4	5631567	T	TGG	A5631577G	EVC2	NM_147127.5(EVC2):c.1710+217_1710+218dup	noncoding	Benign
4	5631863	CT	C	T5631868A	EVC2	NM_147127.5(EVC2):c.1639del:p.Ser547fs	coding	Pathogenic
4	5632018	G	GCA	T5632022A	EVC2	NM_147127.5(EVC2):c.1483_1484dup:p.Ser496fs	coding	Pathogenic
4	5640512	A	AC	T5640516C	EVC2	NM_147127.5(EVC2):c.1470+1dup	noncoding	Pathogenic
4	5663143	GA	G	A5663145G	EVC2	NM_147127.5(EVC2):c.1108del:p.Ser370fs	coding	Pathogenic
4	5665616	AC	A	C5665619T	EVC2	NM_147127.5(EVC2):c.903del:p.Phe302fs	coding	Pathogenic
4	5689295	TA	T	A5689297C	EVC2	NM_147127.5(EVC2):c.567del:p.Asn190fs	coding	Pathogenic
4	5689328	C	CA	C5689330A	EVC2	NM_147127.5(EVC2):c.534dup:p.Glu179Ter	coding	Pathogenic/Likely_pathogenic
4	5694394	T	TA	G5694399A	EVC2	NM_147127.5(EVC2):c.390dup:p.Ile131fs	coding	Pathogenic
4	5697602	T	TA	G5697606A	EVC2	NM_147127.5(EVC2):c.273dup:p.Lys92Ter	coding	Pathogenic
4	5708308	GC	G	C5708312G	EVC2	NM_147127.5(EVC2):c.205del:p.Ala69fs	coding	Pathogenic
4	5708315	T	TCCGCC	G5708324C	EVC2	NM_147127.5(EVC2):c.194_198dup:p.Ser67fs	coding	Pathogenic/Likely_pathogenic
4	5708451	C	CA	C5708453A	EVC2	NM_147127.5(EVC2):c.62dup:p.Ala22fs	coding	Pathogenic/Likely_pathogenic
4	5708483	T	TG	C5708488G	EVC2	NM_147127.5(EVC2):c.30dup:p.Thr11fs	coding	Pathogenic
4	5708489	GC	G	C5708494G	EVC2	NM_147127.5(EVC2):c.24del:p.Arg9fs	coding	Pathogenic
4	5711392	CG	C	G5711396C	EVC	NM_153717.3(EVC):c.16del:p.Ala6fs	coding	Pathogenic
4	5711412	ACG	A	C5711417G	EVC	NM_153717.3(EVC):c.37_38del:p.Arg13fs	coding	Pathogenic
4	5711465	GC	G	C5711470G	EVC	NM_153717.3(EVC):c.90del:p.Ala31fs	coding	Pathogenic
4	5719274	GA	G	A5719276T	EVC	NM_153717.3(EVC):c.203del:p.Asn68fs	coding	Pathogenic
4	5719336	GAGAAGTGC	G	A5719340T	EVC	NM_153717.3(EVC):c.267_274del:p.Glu89fs	coding	Pathogenic
4	5729342	A	AT	C5729345T	EVC	NM_153717.3(EVC):c.338dup:p.Ala114fs	coding	Pathogenic
4	5731431	GC	G	C5731433G	EVC	NM_153717.3(EVC):c.393del:p.Asp132fs	coding	Pathogenic/Likely_pathogenic
4	5731453	C	CT	C5731455T	EVC	NM_153717.3(EVC):c.414dup:p.Leu139fs	coding	Pathogenic
4	5731516	GCAGT	G	A5731518T	EVC	NM_153717.3(EVC):c.478_481del:p.Ser160fs	coding	Pathogenic
4	5731620	CG	C	G5731623T	EVC	NM_153717.3(EVC):c.583del:p.Arg194_Val195insTer	coding	Pathogenic
4	5733367	TG	T	G5733368T	EVC	NM_153717.3(EVC):c.635del:p.Cys212fs	coding	Pathogenic
4	5733404	TG	T	G5733406A	EVC	NM_153717.3(EVC):c.673del:p.Asp225fs	coding	Pathogenic
4	5741728	A	AT	A5741734T	EVC	NM_153717.3(EVC):c.720dup:p.Lys241Ter	coding	Pathogenic
4	5741760	T	TA	G5741766A	EVC	NM_153717.3(EVC):c.752dup:p.Lys252fs	coding	Pathogenic/Likely_pathogenic
4	5741785	T	TA	C5741787A	EVC	NM_153717.3(EVC):c.773dup:p.Tyr258Ter	coding	Pathogenic
4	5741795	TC	T	C5741797T	EVC	NM_153717.3(EVC):c.784del:p.Leu262fs	coding	Pathogenic
4	5742044	TA	T	A5742045C	EVC	NM_153717.3(EVC):c.801+231del	noncoding	Benign
4	5744968	G	GTTTTT	G5744985T	EVC	NM_153717.3(EVC):c.802-224_802-220dup	noncoding	Benign
4	5744968	G	GTTTTTT	G5744985T	EVC	NM_153717.3(EVC):c.802-225_802-220dup	noncoding	Benign
4	5744968	GT	G	T5744984G	EVC	NM_153717.3(EVC):c.802-220del	noncoding	Benign
4	5744968	GTT	G	T5744983G	EVC	NM_153717.3(EVC):c.802-221_802-220del	noncoding	Benign
4	5745190	TTC	T	C5745192T	EVC	NM_153717.3(EVC):c.802-12_802-11del	noncoding	Benign
4	5745311	G	GA	G5745313A	EVC	NM_153717.3(EVC):c.910dup:p.Arg304fs	coding	Pathogenic
4	5745379	GT	G	T5745381C	EVC	NM_153717.3(EVC):c.939+40del	noncoding	Benign
4	5748087	C	CGTTTG	C5748094T	EVC	NM_153717.3(EVC):c.940-59_940-55dup	noncoding	Benign
4	5748254	GAA	G	A5748255T	EVC	NM_153717.3(EVC):c.1047_1048del:p.Arg349fs	coding	Pathogenic
4	5748424	CA	C	A5748425G	EVC	NM_153717.3(EVC):c.1098+119del	noncoding	Benign
4	5748428	GA	G	A5748437C	EVC	NM_153717.3(EVC):c.1098+131del	noncoding	Benign
4	5748522	A	ATCCATCCATCTACGTG	C5748536G	EVC	NM_153717.3(EVC):c.1098+229_1098+230insGTGTCCATCCATCTAC	noncoding	Benign
4	5748549	TGCCCTCCCACCCATTTATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCATCCATCCACCC	T	G5748550A	EVC	NM_153717.3(EVC):c.1098+244_1098+311del	noncoding	Benign
4	5748565	T	TATCCATCC	C5748583T	EVC	NM_153717.3(EVC):c.1098+260ATCC[6]	noncoding	Benign
4	5748579	TCCAC	T	C5748583T	EVC	NM_153717.3(EVC):c.1098+277_1098+280del	noncoding	Benign
4	5753027	GC	AA	G5753027A	EVC	NM_153717.3(EVC):c.1290_1291delinsAA:p.Trp430_Gln431delinsTer	coding	Pathogenic
4	5756205	GA	G	A5756220C	EVC	NM_153717.3(EVC):c.1465-44del	noncoding	Benign
4	5756205	G	GA	C5756221A	EVC	NM_153717.3(EVC):c.1465-44dup	noncoding	Benign
4	5756291	AG	A	G5756293C	EVC	NM_153717.3(EVC):c.1494del:p.Arg498fs	coding	Pathogenic
4	5783634	TC	T	C5783640G	EVC	NM_153717.3(EVC):c.1652del:p.Pro551fs	coding	Pathogenic
4	5783731	ACT	A	C5783734T	EVC	NM_153717.3(EVC):c.1746_1747del:p.Phe583fs	coding	Pathogenic
4	5783736	TC	T	C5783738A	EVC	NM_153717.3(EVC):c.1750del:p.Gln584fs	coding	Pathogenic/Likely_pathogenic
4	5793612	GGATGGAGGAGTGTGCGCTGTCCAGCGTGCTGCAGACACACCTGCGGGAGGACCACGAGGGCACCATCCGCGGCGTCTTGGGCCGACTGGGCGGCCTCACTGAAGAGTGAGTACAGCTCCCTGAAGGCCCAGGGCTTTGTGTCCT	G	A5793614C	EVC	NM_153717.3(EVC):c.1783_1886+40del	coding	Pathogenic
4	5793646	GACAC	G	A5793649C	EVC	NM_153717.3(EVC):c.1818_1821del:p.His607fs	coding	Pathogenic
4	5793714	A	AAC	G5793716C	EVC	NM_153717.3(EVC):c.1884_1885insCA:p.Glu629fs	coding	Pathogenic
4	5797012	TTCCTCAAAGGTCCACGCGGTGTG	T	C5797017G	EVC	NM_153717.3(EVC):c.1887-5_1904del	noncoding	Pathogenic/Likely_pathogenic
4	5797104	GC	G	C5797106A	EVC	NM_153717.3(EVC):c.1971del:p.Thr658fs	coding	Pathogenic
4	5798394	CACAGACACCTA	C	A5798408C	EVC	NM_153717.3(EVC):c.2098-178_2098-168del	noncoding	Benign
4	5798633	G	GGCCC	C5798634G	EVC	NM_153717.3(EVC):c.2145_2146insGCCC:p.Gln716fs	coding	Pathogenic
4	5802102	A	AC	T5802110C	EVC	NM_153717.3(EVC):c.2449+15dup	noncoding	Benign
4	5804840	A	AG	T5804843G	EVC	NM_153717.3(EVC):c.2561+1dup	coding	Pathogenic
4	5805070	TC	T	C5805073A	EVC	NM_153717.3(EVC):c.2561+232del	noncoding	Benign
4	5808273	GC	TT	G5808273T	EVC	NM_153717.3(EVC):c.2634_2635delinsTT:p.Gln878_Gln879delinsHisTer	coding	Pathogenic
4	5809532	CT	C	T5809534C	EVC	NM_153717.3(EVC):c.2705del:p.Phe902fs	coding	Pathogenic
4	5809610	AG	A	G5809612T	EVC	NM_153717.3(EVC):c.2782+1del	coding	Pathogenic/Likely_pathogenic
4	5810939	TTC	T	C5810943G	EVC	NM_153717.3(EVC):c.2895-10_2895-9del	noncoding	Benign/Likely_benign
4	6269830	C	CGCCCCT	G6269842T	WFS1	Single_allele	noncoding	Benign
4	6270040	G	GGCGCGGTGGCTGTGGGCA	C6270064G	WFS1	NM_006005.3(WFS1):c.-6+32_-6+49dup	noncoding	Benign
4	6277462	T	TC	A6277465C	WFS1	NM_006005.3(WFS1):c.9dup:p.Asn4fs	coding	Pathogenic
4	6291019	T	TGGGCGTGGCAG	G6291029A	WFS1	NM_006005.3(WFS1):c.461-169_461-168insAGGGGCGTGGC	noncoding	Benign
4	6291024	G	GTGGCAGGGGCA	G6291029A	WFS1	NM_006005.3(WFS1):c.461-169_461-168insAGGGGCATGGC	noncoding	Benign
4	6295326	A	AGGG	C6295327G	WFS1	NM_006005.3(WFS1):c.861+137_861+138insGGG	noncoding	Benign
4	6300800	CCTCACCATCGA	C	C6300803T	WFS1	NM_006005.3(WFS1):c.1008_1018del:p.Thr337fs	coding	Pathogenic
4	6300902	G	GA	G6300903A	WFS1	NM_006005.3(WFS1):c.1107_1108insA:p.Ala370fs	coding	Pathogenic
4	6301025	CTCTG	C	G6301029T	WFS1	NM_006005.3(WFS1):c.1234_1237del:p.Val412fs	coding	Pathogenic
4	6301029	GTCT	G	T6301035G	WFS1	NM_006005.3(WFS1):c.1237TTC[1]:p.Phe414del	coding	Pathogenic/Likely_pathogenic
4	6301193	CCTG	C	G6301196A	WFS1	NM_006005.3(WFS1):c.1401_1403del:p.Leu468del	coding	Pathogenic
4	6301309	GCCTGCTCTATGTCTA	G	G6301320C	WFS1	NM_006005.3(WFS1):c.1525_1539del:p.Val509_Tyr513del	coding	Pathogenic/Likely_pathogenic
4	6301335	CTCT	C	T6301341C	WFS1	NM_006005.3(WFS1):c.1543TTC[1]:p.Phe516del	coding	Pathogenic
4	6301342	TC	T	C6301344G	WFS1	NM_006005.3(WFS1):c.1549del:p.Arg517fs	coding	Pathogenic
4	6301398	CTGGTGTGCTTCATG	C	C6301406A	WFS1	NM_006005.3(WFS1):c.1611_1624del:p.Cys537_Glu542delinsTer	coding	Pathogenic
4	6301483	ACTTCCT	A	C6301493T	WFS1	NM_006005.3(WFS1):c.1692CCTCTT[1]:p.565LF[1]	coding	Pathogenic/Likely_pathogenic
4	6301725	GTGCTGTTC	G	T6301731G	WFS1	NM_006005.3(WFS1):c.1936_1943del:p.Phe646fs	coding	Pathogenic
4	6301821	C	CA	G6301822A	WFS1	NM_006005.3(WFS1):c.2026_2027insA:p.Arg676fs	coding	Pathogenic
4	6302087	CT	C	T6302088G	WFS1	NM_006005.3(WFS1):c.2293del:p.Cys765fs	coding	Pathogenic
4	6302180	G	GGAC	T6302188A	WFS1	NM_006005.3(WFS1):c.2387ACG[3]:p.Asp797dup	coding	Benign/Likely_benign
4	8867402	G	GGCCCA	G8867406C	HMX1	NM_018942.3(HMX1):c.*290_*291insTGGGC	coding	Benign
4	8871072	C	CG	T8871073G	HMX1	NM_018942.3(HMX1):c.394+148_394+149insC	noncoding	Benign
4	8871374	CCTCCCCGCCGGGCCCGGTGCCCGCGA	C	C8871375G	HMX1	NM_018942.3(HMX1):c.215_240del:p.Leu72fs	coding	Pathogenic
4	9826618	CA	C	A9826623C	SLC2A9	NM_020041.3(SLC2A9):c.1420-19del	noncoding	Benign
4	9835298	CAT	C	A9835299G	SLC2A9	NM_020041.3(SLC2A9):c.1292-292_1292-291del	noncoding	Benign
4	9908503	CCCTTTCTT	C	C9908505A	SLC2A9	NM_020041.3(SLC2A9):c.1003-166_1003-159del	noncoding	Benign
4	9996589	A	AGCCTG	C9996595G	SLC2A9	NM_020041.3(SLC2A9):c.410+187_410+191dup	noncoding	Benign
4	10021676	AT	A	T10021690C	SLC2A9	NM_001001290.2(SLC2A9):c.64-2604del	noncoding	Benign
4	10025885	GA	G	A10025895G	SLC2A9	NM_001001290.2(SLC2A9):c.63+18del	noncoding	Benign
4	10077288	TG	T	G10077293C	WDR1	NM_017491.5(WDR1):c.1714+15del	noncoding	Benign
4	10081350	T	TCC	T10081354C	WDR1	NM_017491.5(WDR1):c.1284+4_1284+5dup	noncoding	Benign
4	10116229	CCTT	C	T10116232C	WDR1	NM_017491.5(WDR1):c.16AAG[1]:p.Lys7del	coding	Pathogenic
4	13370009	TA	T	A13370020G	RAB28	NM_001017979.3(RAB28):c.574-1360del	noncoding	Benign
4	15502371	T	TTTTTC	T15502386C	CC2D2A	NM_001378615.1(CC2D2A):c.248-57TTTTC[3]	noncoding	Benign
4	15502890	T	TAAGAAAGAATTGGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATCTCCATCTGAGGTACCGGGTTCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A15502904G	CC2D2A	NM_001378615.1(CC2D2A):c.418_419insGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATCTCCATCTGAGGTACCGGGTTCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGAATTGG:p.Glu140delinsGlyGlyArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgTer	coding	Pathogenic
4	15515933	AC	A	C15515935G	CC2D2A	NM_001378615.1(CC2D2A):c.948del:p.Gly317_Val318insTer	coding	Pathogenic
4	15516133	A	AT	A15516147T	CC2D2A	NM_001378615.1(CC2D2A):c.1017+142dup	noncoding	Benign
4	15516133	AT	A	T15516146A	CC2D2A	NM_001378615.1(CC2D2A):c.1017+142del	noncoding	Benign
4	15516944	CTTT	C	T15516965G	CC2D2A	NM_001378615.1(CC2D2A):c.1149+209_1149+211del	noncoding	Benign
4	15527591	GC	G	C15527594A	CC2D2A	NM_001378615.1(CC2D2A):c.1297del:p.Gln433fs	coding	Pathogenic
4	15527634	AG	A	G15527636C	CC2D2A	NM_001378615.1(CC2D2A):c.1339del:p.Ala447fs	coding	Pathogenic/Likely_pathogenic
4	15550838	C	CGGAAACTGTG	C15550842A	CC2D2A	NM_001378615.1(CC2D2A):c.2199_2200insAACTGTGGGA:p.His734fs	coding	Pathogenic
4	15559208	AG	A	G15559210A	CC2D2A	NM_001378615.1(CC2D2A):c.2875del:p.Glu959fs	coding	Pathogenic
4	15559232	C	CCA	T15559235C	CC2D2A	NM_001378615.1(CC2D2A):c.2898_2899dup:p.Ile967fs	coding	Pathogenic
4	15559262	G	GA	T15559268A	CC2D2A	NM_001378615.1(CC2D2A):c.2922+10dup	noncoding	Benign/Likely_benign
4	15560607	AA	TT	A15560607T	CC2D2A	NM_001378615.1(CC2D2A):c.2999_3000inv:p.Glu1000Val	coding	Pathogenic
4	15567705	CTT	C	T15567708C	CC2D2A	NM_001378615.1(CC2D2A):c.3320_3321del:p.Phe1107fs	coding	Pathogenic
4	15574176	TC	T	C15574181A	CC2D2A	NM_001378615.1(CC2D2A):c.3626del:p.Pro1209fs	coding	Pathogenic
4	15574194	C	CTACA	G15574199T	CC2D2A	NM_001378615.1(CC2D2A):c.3640_3643dup:p.Ser1215fs	coding	Pathogenic
4	15579998	CAA	C	A15579999G	CC2D2A	NM_001378615.1(CC2D2A):c.3803_3804del:p.Gln1268fs	coding	Pathogenic
4	15580005	CTG	C	T15580006A	CC2D2A	NM_001378615.1(CC2D2A):c.3810_3811del:p.Lys1272fs	coding	Pathogenic
4	15587835	CA	C	A15587836G	CC2D2A	NM_001378615.1(CC2D2A):c.4086del:p.Asp1364fs	coding	Pathogenic
4	15589619	TG	T	G15589621A	CC2D2A	NM_001378615.1(CC2D2A):c.4256del:p.Gly1419fs	coding	Pathogenic
4	15589784	A	AATAT	C15589800T	CC2D2A	NM_001378615.1(CC2D2A):c.4314+106AT[9]	noncoding	Benign
4	15589784	A	AAT	C15589800T	CC2D2A	NM_001378615.1(CC2D2A):c.4314+106AT[8]	noncoding	Benign
4	15589821	TA	T	A15589825G	CC2D2A	NM_001378615.1(CC2D2A):c.4314+146del	noncoding	Benign
4	15596428	T	TAA	G15596432A	CC2D2A	NM_001378615.1(CC2D2A):c.4437+223_4437+224dup	noncoding	Benign
4	15597428	C	CG	C15597430G	CC2D2A	NM_001378615.1(CC2D2A):c.4460dup:p.Ser1488fs	coding	Pathogenic
4	15599548	GA	G	A15599554T	CC2D2A	NM_001378615.1(CC2D2A):c.4522del:p.Ile1508fs	coding	Pathogenic
4	15601150	C	CTTA	C15601155T	CC2D2A	NM_001378615.1(CC2D2A):c.4675-85_4675-83dup	noncoding	Benign
4	15601292	CT	TGTATA	C15601292T	CC2D2A	NM_001378615.1(CC2D2A):c.4730_4731delinsTGTATA:p.Ala1577fs	coding	Pathogenic
4	15979987	TC	T	C15979988T	PROM1	NM_006017.3(PROM1):c.2490-84del	noncoding	Benign
4	15980434	TC	T	C15980436T	PROM1	NM_006017.3(PROM1):c.2476del:p.Asp826fs	coding	Pathogenic
4	15984306	G	GT	A15984308T	PROM1	NM_006017.3(PROM1):c.2329dup:p.Thr777fs	coding	Pathogenic
4	15984358	AG	A	G15984364T	PROM1	NM_006017.3(PROM1):c.2281-4del	noncoding	Benign
4	15985824	GT	G	T15985827C	PROM1	NM_006017.3(PROM1):c.2215del:p.Thr739fs	coding	Pathogenic
4	15985968	CAG	C	A15985971G	PROM1	NM_006017.3(PROM1):c.2198_2199del:p.Ser733fs	coding	Pathogenic
4	15985971	AG	A	G15985973A	PROM1	NM_006017.3(PROM1):c.2196del:p.Ser733fs	coding	Pathogenic
4	15987567	TC	T	C15987568A	PROM1	NM_006017.3(PROM1):c.2130+95del	noncoding	Benign
4	15992268	AATTC	A	A15992273T	PROM1	NM_006017.3(PROM1):c.1887_1890del:p.Met629fs	coding	Pathogenic
4	15998415	TTTGA	T	G15998418T	PROM1	NM_006017.3(PROM1):c.1648_1651del:p.Ser550fs	coding	Pathogenic
4	15998418	GATTT	G	T15998422A	PROM1	NM_006017.3(PROM1):c.1645_1648del:p.Lys549fs	coding	Pathogenic
4	16006567	GAC	G	C16006571G	PROM1	NM_006017.3(PROM1):c.1423_1424del:p.Val475fs	coding	Pathogenic
4	16008967	T	TC	A16008970C	PROM1	NM_006017.3(PROM1):c.1282dup:p.Glu428fs	coding	Pathogenic
4	16018339	TTG	T	T16018340C	PROM1	NM_006017.3(PROM1):c.984_985del:p.Ser328fs	coding	Pathogenic
4	16023355	AC	A	C16023356A	PROM1	NM_006017.3(PROM1):c.754del:p.Val252fs	coding	Pathogenic
4	16033412	C	CAAATACA	G16033413A	PROM1	NM_006017.3(PROM1):c.400_401insTGTATTT:p.Arg134fs	coding	Pathogenic
4	16033426	G	GA	T16033430A	PROM1	NM_006017.3(PROM1):c.386dup:p.Phe130fs	coding	Pathogenic
4	16039005	GA	G	A16039012G	PROM1	NM_006017.3(PROM1):c.221-5del	noncoding	Benign
4	16179664	GA	G	A16179672T	TAPT1	NM_153365.3(TAPT1):c.917-8del	noncoding	Benign
4	16179786	CT	C	T16179789A	TAPT1	NM_153365.3(TAPT1):c.917-130del	noncoding	Benign
4	16179802	ATG	A	G16179826A	TAPT1	NM_153365.3(TAPT1):c.917-169CA[11]	noncoding	Benign
4	16179802	ATGTG	A	G16179824A	TAPT1	NM_153365.3(TAPT1):c.917-169CA[10]	noncoding	Benign
4	16179826	GTA	G	T16179833G	TAPT1	NM_153365.3(TAPT1):c.917-177TA[3]	noncoding	Benign
4	16188357	TA	T	A16188368T	TAPT1	NM_153365.3(TAPT1):c.613-3del	noncoding	Benign
4	16188357	T	TA	T16188369A	TAPT1	NM_153365.3(TAPT1):c.613-3dup	noncoding	Benign
4	16202603	GA	G	A16202614G	TAPT1	NM_153365.3(TAPT1):c.331-24del	noncoding	Benign
4	16202603	G	GA	G16202615A	TAPT1	NM_153365.3(TAPT1):c.331-34dup	noncoding	Benign
4	16226553	A	AGCC	A16226575G	TAPT1	Single_allele	noncoding	Benign
4	16226553	A	AGCCGCC	A16226575G	TAPT1	Single_allele	noncoding	Benign
4	17487255	GT	G	T17487263A	QDPR	NM_000320.3(QDPR):c.630-20del	noncoding	Benign
4	17492329	AC	A	C17492332G	QDPR	NM_000320.3(QDPR):c.447del:p.Tyr150fs	coding	Pathogenic
4	17501747	GCCAGCCAAGGTCAGGAGGCCTCCTT	G	A17501750T	QDPR	NM_000320.3(QDPR):c.383_407del:p.Glu128fs	coding	Pathogenic
4	17501786	G	GGTA	C17501791T	QDPR	NM_000320.3(QDPR):c.366_368dup:p.Thr123dup	coding	Pathogenic
4	17504490	C	CA	T17504498A	QDPR	NM_000320.3(QDPR):c.199-16dup	noncoding	Benign
4	17511875	GC	G	C17511881G	QDPR	NM_000320.3(QDPR):c.105+74del	noncoding	Benign
4	17512001	GC	G	C17512003G	QDPR	NM_000320.3(QDPR):c.53del:p.Gly18fs	coding	Pathogenic
4	17512134	CG	C	G17512135C	QDPR	NM_000320.2(QDPR):c.-81delC	noncoding	Benign/Likely_benign
4	20532077	A	AT	A20532086T	SLIT2	NM_004787.4(SLIT2):c.1688+27dup	noncoding	Benign
4	20532077	A	ATT	A20532086T	SLIT2	NM_004787.4(SLIT2):c.1688+26_1688+27dup	noncoding	Benign
4	25125731	CAAGCT	C	A25125732G	SEPSECS	NM_016955.4(SEPSECS):c.1169_1173del:p.Gln390fs	coding	Pathogenic
4	25125756	G	GT	G25125758T	SEPSECS	NM_016955.4(SEPSECS):c.1148dup:p.His383fs	coding	Pathogenic
4	25144773	CCTTT	C	C25144782T	SEPSECS	NM_016955.4(SEPSECS):c.1023_1026del:p.Glu343fs	noncoding	Pathogenic/Likely_pathogenic
4	25145026	CTGAA	C	G25145036C	SEPSECS	NM_016955.4(SEPSECS):c.908_911del:p.Ile303fs	coding	Pathogenic
4	25145034	AT	A	T25145035G	SEPSECS	NM_016955.4(SEPSECS):c.903del:p.Phe302fs	coding	Pathogenic
4	25145102	AC	A	C25145103A	SEPSECS	NM_016955.4(SEPSECS):c.835del:p.Val279fs	coding	Pathogenic
4	25155067	TC	T	C25155069T	SEPSECS	NM_016955.4(SEPSECS):c.631del:p.Glu211fs	coding	Pathogenic
4	25156101	CT	C	T25156104G	SEPSECS	NM_016955.4(SEPSECS):c.482del:p.Lys161fs	coding	Pathogenic
4	25156103	T	TG	T25156104G	SEPSECS	NM_016955.4(SEPSECS):c.480_481insC:p.Lys161fs	coding	Pathogenic
4	25156134	CAG	C	A25156137T	SEPSECS	NM_016955.4(SEPSECS):c.448_449del:p.Leu150fs	coding	Pathogenic
4	25156239	AC	A	C25156242A	SEPSECS	NM_016955.4(SEPSECS):c.389-45del	noncoding	Benign
4	25156403	TA	T	A25156414G	SEPSECS	NM_016955.4(SEPSECS):c.389-209del	noncoding	Benign
4	25156707	CAAAAAAAAAA	C	A25156726G	SEPSECS	NM_016955.4(SEPSECS):c.388+139_388+148del	noncoding	Benign
4	25156707	CAAA	C	A25156733G	SEPSECS	NM_016955.4(SEPSECS):c.388+146_388+148del	noncoding	Benign
4	25156707	C	CA	G25156736A	SEPSECS	NM_016955.4(SEPSECS):c.388+121dup	noncoding	Benign
4	25156882	A	AAAGAATTGGTAATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	G25156899T	SEPSECS	NM_016955.4(SEPSECS):c.361_362insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTACCAATTCTT:p.Leu121fs	coding	Pathogenic
4	25159067	TC	T	C25159068A	SEPSECS	NM_016955.4(SEPSECS):c.154del:p.Glu52fs	coding	Pathogenic
4	25159110	TA	T	A25159125C	SEPSECS	NM_016955.4(SEPSECS):c.115-4del	noncoding	Benign
4	25159114	A	AG	A25159115G	SEPSECS	NM_016955.4(SEPSECS):c.115-8_115-7insC	noncoding	Benign
4	25160508	C	CA	C25160517A	SEPSECS	NM_016955.3(SEPSECS):c.-147dup	noncoding	Benign/Likely_benign
4	25655721	CGGCAGGTAGGCAGTGCCCCGGCGGCGGCTGCGGCAGGCGGTCCTGGAATGTGCGAGGGGCGTGATGACAGCGGCCAGCCTCTTTGCGCAACACCTTCGCCATATATACCCGGGGCGCTGCGCTCCACCTGGCCGCCGCCTCCAGCCCAGCACCTGCGGAGGGAGCGCTGGTGAGTACCGCCGCCGG	C	T25655728G	SLC34A2	NG_021185.2:g.4879_5064del	noncoding	Pathogenic
4	25662705	CA	C	A25662706G	SLC34A2	NM_006424.3(SLC34A2):c.114del:p.Asp39fs	coding	Pathogenic
4	25673283	TCACA	T	C25673284T	SLC34A2	NM_006424.3(SLC34A2):c.1216+30_1216+33del	noncoding	Benign
4	25673289	G	GAGGGA	T25673290A	SLC34A2	NM_006424.3(SLC34A2):c.1216+35_1216+36insAGGGA	noncoding	Benign
4	26386337	A	AT	C26386349T	RBPJ	NM_015874.6(RBPJ):c.21-5dup	noncoding	Benign
4	26386337	AT	A	T26386348C	RBPJ	NM_015874.6(RBPJ):c.21-5del	noncoding	Benign
4	26386337	ATT	A	T26386347C	RBPJ	NM_015874.6(RBPJ):c.21-6_21-5del	noncoding	Benign
4	26415446	G	GT	C26415458T	RBPJ	NM_015874.6(RBPJ):c.156-18dup	noncoding	Benign
4	26415457	T	TC	T26415462C	RBPJ	NM_015874.6(RBPJ):c.156-14dup	noncoding	Benign
4	26415773	AC	A	C26415775A	RBPJ	NM_015874.6(RBPJ):c.321+135del	noncoding	Benign
4	36282039	C	CT	A36282048T	DTHD1	NM_001170700.3(DTHD1):c.271+18dup	noncoding	Benign
4	36282039	CT	C	T36282047A	DTHD1	NM_001170700.3(DTHD1):c.271+18del	noncoding	Benign
4	39185901	TG	T	G39185902T	WDR19	NM_025132.4(WDR19):c.98+85del	noncoding	Benign
4	39186589	A	AGT	A39186590G	WDR19	NM_025132.4(WDR19):c.149_150insGT:p.Glu50_Ile51insTer	coding	Pathogenic
4	39189738	G	GA	T39189740A	WDR19	NM_025132.4(WDR19):c.248dup:p.Asp83fs	coding	Pathogenic
4	39205179	C	CT	G39205183T	WDR19	NM_025132.4(WDR19):c.632dup:p.Leu211fs	coding	Pathogenic
4	39214662	GA	G	A39214666T	WDR19	NM_025132.4(WDR19):c.956del:p.Asn319fs	coding	Pathogenic
4	39216001	C	CT	C39216002T	WDR19	NM_025132.4(WDR19):c.1122_1123insT:p.Pro375fs	coding	Pathogenic
4	39228618	TTCTC	T	T39228619A	WDR19	NM_025132.4(WDR19):c.1911_1914del:p.Phe637fs	coding	Pathogenic
4	39234858	TATTCAGCTTGA	T	A39234863G	WDR19	NM_025132.4(WDR19):c.2351_2361del:p.Gln784fs	coding	Pathogenic
4	39240264	A	AT	C39240274T	WDR19	NM_025132.4(WDR19):c.2364-4dup	noncoding	Benign
4	39240264	AT	A	T39240273C	WDR19	NM_025132.4(WDR19):c.2364-4del	noncoding	Benign
4	39244306	T	TA	C39244308A	WDR19	NM_025132.4(WDR19):c.2481dup:p.Arg828fs	coding	Pathogenic
4	39253134	AT	A	T39253141A	WDR19	NM_025132.4(WDR19):c.2730-5del	noncoding	Benign
4	39255995	G	GCAGGAATAATTGTAGGAAATATACGTAAATGC	T39256051C	WDR19	NM_025132.4(WDR19):c.3114+59_3114+90dup	noncoding	Benign
4	39456250	T	TG	T39456251G	RPL9	NM_000661.5(RPL9):c.391+155_391+156insC	noncoding	Benign
4	39458584	CCA	C	C39458585G	RPL9	NM_000661.5(RPL9):c.-1-146_-1-145del	noncoding	Benign
4	39462253	AC	A	C39462254T	LIAS	NM_006859.4(LIAS):c.277del:p.Lys92_Leu93insTer	coding	Pathogenic
4	39465170	AT	A	T39465172A	LIAS	NM_006859.4(LIAS):c.520del:p.Tyr174fs	coding	Pathogenic
4	39471326	C	CT	A39471344T	LIAS	NM_006859.4(LIAS):c.954+37dup	noncoding	Benign
4	39471326	CT	C	T39471343A	LIAS	NM_006859.4(LIAS):c.954+37del	noncoding	Benign
4	39471326	CTT	C	T39471342A	LIAS	NM_006859.4(LIAS):c.954+36_954+37del	noncoding	Benign
4	39473139	G	GA	G39473145A	LIAS	NM_006859.4(LIAS):c.999dup:p.Val334fs	coding	Pathogenic
4	41261701	A	AT	A41261712T	UCHL1	NM_004181.5(UCHL1):c.326-4dup	noncoding	Benign
4	41261701	A	ATT	A41261712T	UCHL1	NM_004181.5(UCHL1):c.326-5_326-4dup	noncoding	Benign
4	41261701	AT	A	T41261711A	UCHL1	NM_004181.5(UCHL1):c.326-4del	noncoding	Benign/Likely_benign
4	41262969	ATAGT	A	T41262973C	UCHL1	NM_004181.5(UCHL1):c.460-252_460-249del	noncoding	Benign
4	41263510	CAA	C	A41263512G	UCHL1	NM_004181.5(UCHL1):c.526+221_526+222del	noncoding	Benign
4	41745816	ACTGCT	A	G41745819T	PHOX2B	NM_003924.4(PHOX2B):c.931_935del:p.Ser311fs	coding	Pathogenic
4	41745908	AGGTGATGG	A	T41745911C	PHOX2B	NM_003924.4(PHOX2B):c.836_843del:p.Pro279fs	coding	Pathogenic
4	41745972	A	AGCTGCCGCCGCCGCC	T41745984C	PHOX2B	NM_003924.4(PHOX2B):c.779_780insGGCGGCGGCGGCAGC:p.Ala256_Ala260dup	coding	Pathogenic
4	41745972	A	AGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC	G41746011C	PHOX2B	NM_003924.4(PHOX2B):c.750_779dup:p.Ala251_Ala260dup	coding	Pathogenic
4	41745975	T	TGCCGCCGCTGCCGCGGCCGCC	T41745990G	PHOX2B	NM_003924.4(PHOX2B):c.776_777insGGCGGCCGCGGCAGCGGCGGC:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
4	41745984	T	TGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC	C41746020T	PHOX2B	NM_003924.4(PHOX2B):c.738_767dup:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
4	41745984	T	TGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCC	T41746026C	PHOX2B	NM_003924.4(PHOX2B):c.735_767dup:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
4	41745987	C	CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT	G41746032C	PHOX2B	NM_003924.4(PHOX2B):c.726_764dup:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
4	41745987	C	CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCT	T41746029C	PHOX2B	NM_003924.4(PHOX2B):c.729_764dup:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
4	41745990	T	TGCCGCCGCCGCCGCTGCCGCG	T41746023C	PHOX2B	NM_003924.4(PHOX2B):c.741_761dup:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
4	41745992	C	CCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCTGCTG	C41746038G	PHOX2B	NM_003924.4(PHOX2B):c.722_759dup:p.Ala254fs	coding	Pathogenic
4	41745993	C	CGCCGCCGCCGCTGCCGCG	T41746026C	PHOX2B	NM_003924.4(PHOX2B):c.741_758dup:p.Ala255_Ala260dup	coding	Pathogenic/Likely_pathogenic
4	41746005	T	TGCCGCGGCCGCCGCC	T41746023C	PHOX2B	NM_003924.4(PHOX2B):c.732_746dup:p.Ala260_Gly261insAlaAlaAlaAlaAla	coding	Pathogenic
4	41746005	T	TGCCGCGGCCGCC	T41746023G	PHOX2B	NM_003924.4(PHOX2B):c.735_746dup:p.Ala260_Gly261insAlaAlaAlaAla	coding	Pathogenic
4	41746008	C	CGCGGCCGCCGCCGCTGCT	T41746029G	PHOX2B	NM_003924.4(PHOX2B):c.726_743dup:p.Ala255_Ala260dup	coding	Pathogenic
4	41746037	C	CCTTGCCGGGTTCG	C41746052T	PHOX2B	NM_003924.4(PHOX2B):c.702_714dup:p.Gly239fs	coding	Pathogenic
4	41746053	T	TCCCGGGCC	G41746072C	PHOX2B	NM_003924.4(PHOX2B):c.691_698dup:p.Gly234fs	coding	Pathogenic
4	41746059	GC	G	C41746064G	PHOX2B	NM_003924.4(PHOX2B):c.692del:p.Gly231fs	coding	Pathogenic
4	41746068	CCCCGCCGCCCCCGGAGCTCCAGCCGGGCTGGG	C	C41746078G	PHOX2B	NM_003924.4(PHOX2B):c.652_683del:p.Pro218fs	coding	Pathogenic
4	41746075	GC	G	C41746080G	PHOX2B	NM_003924.4(PHOX2B):c.676del:p.Ala226fs	coding	Pathogenic
4	41746174	TC	T	C41746176G	PHOX2B	NM_003924.4(PHOX2B):c.577del:p.Asp193fs	coding	Pathogenic
4	41747349	C	CT	G41747351T	PHOX2B	NM_003924.4(PHOX2B):c.428dup:p.Val144fs	coding	Pathogenic
4	41747386	AG	A	G41747387C	PHOX2B	NM_003924.4(PHOX2B):c.391del:p.Leu131fs	coding	Pathogenic
4	41748370	CTGCGGCG	C	G41748372A	PHOX2B	NM_003924.4(PHOX2B):c.234_240del:p.Pro77_Tyr78insTer	coding	Pathogenic
4	41748457	C	CA	G41748462A	PHOX2B	NM_003924.4(PHOX2B):c.153dup:p.Gly52fs	coding	Pathogenic
4	43030358	CAG	C	A43030363T	GRXCR1	NC_000004.11:g.43032376_43032377del	noncoding	Pathogenic
4	44683207	T	TA	T44683208A	GUF1	NM_021927.3(GUF1):c.586-28_586-27insA	noncoding	Benign
4	44683219	A	AT	A44683231T	GUF1	NM_021927.3(GUF1):c.586-5dup	noncoding	Benign
4	44683219	AT	A	T44683230A	GUF1	NM_021927.3(GUF1):c.586-5del	noncoding	Benign
4	44697391	AT	A	T44697396C	GUF1	NM_021927.3(GUF1):c.1836-12del	noncoding	Benign
4	46303460	CA	C	A46303463C	GABRA2	NM_000807.4(GABRA2):c.855del:p.Phe285fs	coding	Pathogenic
4	46305725	G	GA	T46305732A	GABRA2	NM_000807.4(GABRA2):c.560-15dup	noncoding	Benign
4	46312723	T	TA	T46312730A	GABRA2	NM_000807.4(GABRA2):c.256-8dup	noncoding	Benign
4	47031750	A	ATC	G47031755T	GABRB1	NM_000812.4(GABRB1):c.80+20TC[3]	noncoding	Benign
4	47031750	ATCTCGC	A	G47031755T	GABRB1	NM_000812.4(GABRB1):c.80+24_80+29del	noncoding	Benign
4	47031753	TCG	T	G47031755T	GABRB1	NM_000812.4(GABRB1):c.80+24_80+25del	noncoding	Benign
4	47032018	C	CT	C47032025T	GABRB1	NM_000812.4(GABRB1):c.172+19dup	noncoding	Benign
4	47936521	CT	C	T47936524G	CNGA1	NM_001379270.1(CNGA1):c.1960del:p.Arg654fs	coding	Pathogenic
4	47936735	CAGTT	C	T47936738A	CNGA1	NM_001379270.1(CNGA1):c.1743_1746del:p.Thr582fs	coding	Pathogenic/Likely_pathogenic
4	47936759	CT	C	T47936763G	CNGA1	NM_001379270.1(CNGA1):c.1722del:p.Asp575fs	coding	Pathogenic
4	47936921	CG	C	G47936922A	CNGA1	NM_001379270.1(CNGA1):c.1560del:p.Ala521fs	coding	Pathogenic
4	47936924	GT	G	T47936927G	CNGA1	NM_001379270.1(CNGA1):c.1557del:p.Lys519fs	coding	Pathogenic
4	47937066	C	CT	A47937073T	CNGA1	NM_001379270.1(CNGA1):c.1415dup:p.Val473fs	coding	Pathogenic
4	47937226	AAATGCATATATTGC	A	A47937227T	CNGA1	NM_001379270.1(CNGA1):c.1242_1255del:p.Lys414fs	coding	Pathogenic
4	47937390	AG	A	G47937395T	CNGA1	NM_001379270.1(CNGA1):c.1091del:p.Pro364fs	coding	Pathogenic
4	47937474	AGGATC	A	G47937475A	CNGA1	NM_001379270.1(CNGA1):c.1003_1007del:p.Asn334_Asp335insTer	coding	Pathogenic
4	47937774	ATATT	A	T47937782G	CNGA1	NM_001379270.1(CNGA1):c.704_707del:p.Lys235fs	coding	Pathogenic
4	47942012	CAA	C	A47942029T	CNGA1	NM_001379270.1(CNGA1):c.545+27_545+28del	noncoding	Benign
4	47942012	CA	C	A47942030T	CNGA1	NM_001379270.1(CNGA1):c.545+28del	noncoding	Benign
4	47942057	TC	T	C47942059A	CNGA1	NM_001379270.1(CNGA1):c.528del:p.Asn175_Trp176insTer	coding	Pathogenic
4	47951423	C	CAGAA	T47951424A	CNGA1	NM_001379270.1(CNGA1):c.153_154insTTCT:p.Glu52delinsPheTer	coding	Pathogenic
4	47952586	C	CA	T47952588A	CNGA1	NM_001379270.1(CNGA1):c.103dup:p.Cys35fs	coding	Pathogenic
4	47952604	C	CT	C47952607T	CNGA1	NM_001379270.1(CNGA1):c.85dup:p.Arg29fs	coding	Pathogenic
4	52027984	TTA	T	T52027985C	SGCB	NM_000232.5(SGCB):c.735_736del:p.Asn246fs	coding	Pathogenic
4	52028070	AT	A	T52028073A	SGCB	NM_000232.5(SGCB):c.650del:p.Asn217fs	coding	Pathogenic/Likely_pathogenic
4	52028771	C	CA	C52028773A	SGCB	NM_000232.5(SGCB):c.579dup:p.Gly194fs	coding	Pathogenic
4	52028783	G	GA	C52028787A	SGCB	NM_000232.5(SGCB):c.567dup:p.His190fs	coding	Pathogenic
4	52028798	CAT	C	T52028800G	SGCB	NM_000232.5(SGCB):c.551_552del:p.Asp183_Tyr184insTer	coding	Pathogenic/Likely_pathogenic
4	52028811	G	GA	T52028814A	SGCB	NM_000232.5(SGCB):c.539dup:p.Ser181fs	coding	Pathogenic
4	52028925	CA	C	A52028933C	SGCB	NM_000232.5(SGCB):c.430-5del	noncoding	Benign
4	52029722	C	CTCCTACTG	G52029732C	SGCB	NM_000232.5(SGCB):c.377_384dup:p.Gly129delinsGlnTer	coding	Pathogenic
4	52029733	C	CT	A52029738T	SGCB	NM_000232.5(SGCB):c.373dup:p.Ser125fs	coding	Pathogenic
4	52029851	T	TA	C52029854A	SGCB	NM_000232.5(SGCB):c.255dup:p.Ile86fs	coding	Pathogenic
4	52033488	GC	G	C52033491T	SGCB	NM_000232.5(SGCB):c.185del:p.Gly62fs	coding	Pathogenic
4	52033557	G	GCTCT	T52033558C	SGCB	NM_000232.5(SGCB):c.116_117insAGAG:p.Asn39fs	coding	Pathogenic
4	52033571	CT	C	T52033574A	SGCB	NM_000232.5(SGCB):c.102del:p.Glu35fs	coding	Pathogenic
4	52033588	C	CT	C52033590T	SGCB	NM_000232.5(SGCB):c.85dup:p.Arg29fs	coding	Pathogenic
4	52038229	GT	G	T52038231C	SGCB	NM_000232.5(SGCB):c.30del:p.Glu10fs	coding	Pathogenic/Likely_pathogenic
4	52038246	GCCGCTGCCGCCATCTTCCCGCGC	G	T52038251C	SGCB	NM_000232.5(SGCB):c.-10_13del:p.Met1fs	coding	Pathogenic
4	52038251	T	TGCCGCCATCTTCCCGCGCCCGCCGCC	A52038282C	SGCB	NM_000232.5(SGCB):c.-18_8dup:p.Ala6fs	coding	Pathogenic
4	54229515	G	GA	G54229527A	PDGFRA	NM_006206.6(PDGFRA):c.-13+111dup	noncoding	Benign
4	54264834	TAA	T	A54264850C	PDGFRA	NM_006206.6(PDGFRA):c.629-69_629-68del	noncoding	Benign
4	54264834	TA	T	A54264851C	PDGFRA	NM_006206.6(PDGFRA):c.629-68del	noncoding	Benign
4	54264908	C	CT	A54264915T	PDGFRA	NM_006206.6(PDGFRA):c.629-5dup	noncoding	Benign
4	54265061	CA	C	A54265065C	PDGFRA	NM_006206.6(PDGFRA):c.759+16del	noncoding	Benign
4	54270620	CT	C	T54270627A	PDGFRA	NM_006206.6(PDGFRA):c.1122-6del	noncoding	Benign
4	54277961	CC	TT	C54277961T	PDGFRA	NM_006206.6(PDGFRA):c.1957_1958delinsTT:p.Pro653Leu	coding	Pathogenic
4	54278223	TAAAAAAAAAA	T	A54278244C	PDGFRA	NM_006206.6(PDGFRA):c.2003-118_2003-109del	noncoding	Benign
4	54278223	TAAA	T	A54278251C	PDGFRA	NM_006206.6(PDGFRA):c.2003-111_2003-109del	noncoding	Benign
4	54280239	T	TTGTAGGTCCCCCAG	A54280240T	PDGFRA	NM_006206.6(PDGFRA):c.2157-77_2157-76insTGTAGGTCCCCCAG	noncoding	Benign
4	54280754	AT	A	T54280760A	PDGFRA	NM_006206.6(PDGFRA):c.2323+278del	noncoding	Benign
4	54285340	AGCACC	A	G54285341A	PDGFRA	NM_006206.6(PDGFRA):c.2324-30_2324-26del	noncoding	Benign
4	54285345	C	CTTT	A54285346T	PDGFRA	NM_006206.6(PDGFRA):c.2324-26_2324-25insTTT	noncoding	Benign
4	54285360	CT	C	T54285364C	PDGFRA	NM_006206.6(PDGFRA):c.2324-7del	noncoding	Benign
4	54285791	T	TA	T54285792A	PDGFRA	NM_006206.6(PDGFRA):c.2440-50_2440-49insA	noncoding	Benign
4	54290285	ATTAAATATG	A	A54290288C	PDGFRA	NM_006206.6(PDGFRA):c.2881-25_2881-17del	noncoding	Benign
4	54290562	TG	T	G54290567C	PDGFRA	NM_006206.6(PDGFRA):c.3122+13del	noncoding	Benign
4	54658034	CCT	C	C54658035G	KIT	NM_000222.3(KIT):c.21_22del:p.Trp8fs	coding	Pathogenic
4	54695552	A	ACCAT	G54695568T	KIT	NM_000222.3(KIT):c.120_123dup:p.Gly42fs	coding	Pathogenic
4	54698308	AC	A	C54698310G	KIT	NM_000222.3(KIT):c.364del:p.Arg122fs	coding	Pathogenic
4	54698311	GCTCC	G	C54698312T	KIT	NM_000222.3(KIT):c.366_369del:p.Ser123fs	coding	Pathogenic
4	54707168	T	TTTGA	T54707176A	KIT	NM_000222.3(KIT):c.1000_1003dup:p.Val335fs	coding	Pathogenic
4	54707301	CT	C	T54707303G	KIT	NM_000222.3(KIT):c.1115+16del	noncoding	Benign
4	54723710	AT	A	T54723715G	KIT	NM_000222.3(KIT):c.1346+17del	noncoding	Benign
4	54727416	AAACCCATGTATGAAG	A	A54727417T	KIT	NM_000222.3(KIT):c.1649_1663del:p.Lys550_Val555delinsIle	coding	Pathogenic
4	54727419	CCCATGTATGAAGTACAGTGGAA	C	C54727420G	KIT	NM_000222.3(KIT):c.1652_1673del:p.Pro551fs	coding	Pathogenic
4	54728120	AG	A	G54728122T	KIT	NM_000222.3(KIT):c.1990+1del	coding	Pathogenic
4	54733122	TCACAAAGA	T	C54733123T	KIT	NM_000222.3(KIT):c.2415_2422del:p.Thr806fs	coding	Pathogenic
4	55346203	G	GCGCGTCCCCGCCCCGCGC	A55346228C	SRD5A3	Single_allele	noncoding	Benign
4	55363875	CCAGTGAACTGTGTAACA	C	C55363891T	SRD5A3	NM_024592.5(SRD5A3):c.365-183_365-167del	noncoding	Benign
4	55364555	T	TA	T55364567A	SRD5A3	NM_024592.5(SRD5A3):c.562+295dup	noncoding	Benign
4	55369730	CAA	C	A55369746T	SRD5A3	NM_024592.5(SRD5A3):c.698-86_698-85del	noncoding	Benign
4	55369730	CA	C	A55369747T	SRD5A3	NM_024592.5(SRD5A3):c.698-85del	noncoding	Benign
4	55370400	TAACCGAAA	T	A55370410T	SRD5A3	NM_024592.5(SRD5A3):c.*311ACCGAAAA[1]	noncoding	Benign/Likely_benign
4	55411599	A	AT	C55411610T	TMEM165	NM_018475.5(TMEM165):c.208-5dup	noncoding	Benign
4	55411599	AT	A	T55411609C	TMEM165	NM_018475.5(TMEM165):c.208-5del	noncoding	Benign
4	55424773	T	TAATA	G55424775A	TMEM165	NM_018475.5(TMEM165):c.898+131_898+132insATAA	noncoding	Benign
4	55959492	C	CTG	T55959494G	CEP135	NM_025009.5(CEP135):c.615-189_615-188insGT	noncoding	Benign
4	55974867	TAAGA	T	A55974872G	CEP135	NM_025009.5(CEP135):c.1376_1379del:p.Lys459fs	coding	Pathogenic
4	55999493	G	GAACT	A55999500C	CEP135	NM_025009.5(CEP135):c.2131_2134dup:p.Asn712fs	coding	Pathogenic
4	56011488	AG	A	G56011490T	CEP135	NM_025009.5(CEP135):c.2584del:p.Val862fs	coding	Pathogenic
4	56011559	GT	G	T56011573A	CEP135	NM_025009.5(CEP135):c.2616+51del	noncoding	Benign
4	56019381	CA	C	A56019382G	CEP135	NM_025009.5(CEP135):c.3042del:p.Glu1015fs	coding	Pathogenic
4	56019454	TACAA	T	A56019458G	CEP135	NM_025009.5(CEP135):c.3118_3121del:p.Asn1040fs	coding	Pathogenic
4	56469888	C	CT	C56469896T	SRP72	NM_006947.4(SRP72):c.230+122dup	noncoding	Benign
4	56469972	G	GTT	A56469990T	SRP72	NM_006947.4(SRP72):c.230+215_230+216dup	noncoding	Benign
4	56469972	GTT	G	T56469988A	SRP72	NM_006947.4(SRP72):c.230+215_230+216del	noncoding	Benign
4	56470078	ATAAC	A	A56470080C	SRP72	NM_006947.4(SRP72):c.230+307_230+310del	noncoding	Benign
4	56471700	G	GT	C56471710T	SRP72	NM_006947.4(SRP72):c.231-11dup	noncoding	Benign
4	56474542	CT	C	T56474554A	SRP72	NM_006947.4(SRP72):c.610+163del	noncoding	Benign
4	56478153	TC	T	C56478154T	SRP72	NM_006947.4(SRP72):c.643-225del	noncoding	Benign
4	56484715	TG	T	G56484720T	SRP72	NM_006947.4(SRP72):c.958-16del	noncoding	Benign
4	56490066	AT	A	T56490067A	SRP72	NM_006947.4(SRP72):c.1321-266del	noncoding	Benign
4	56495404	TA	T	A56495410G	SRP72	NM_006947.4(SRP72):c.1678+16del	noncoding	Benign
4	56500959	C	CTG	A56500961G	SRP72	NM_006947.4(SRP72):c.1838+265_1838+266insGT	noncoding	Benign
4	56500972	T	TA	G56500977A	SRP72	NM_006947.4(SRP72):c.1838+281dup	noncoding	Benign
4	56501421	ACT	A	C56501424G	SRP72	NM_006947.4(SRP72):c.1839-260_1839-259del	noncoding	Benign
4	56911058	TC	T	C56911063T	REST	NM_005612.5(REST):c.425del:p.Pro142fs	coding	Pathogenic
4	56929612	TAACTTG	T	G56929618T	REST	NM_005612.5(REST):c.983-223_983-218del	noncoding	Benign
4	56931628	C	CAAAACTTGAATACGCCAGAGGGT	G56931652A	REST	NM_005612.5(REST):c.2771_2793dup:p.Glu932delinsLysThrTer	coding	Pathogenic
4	64279754	AT	A	T64279765G	TECRL	NM_001010874.5(TECRL):c.*317del	noncoding	Benign
4	64280248	T	TAA	G64280249A	TECRL	NM_001010874.5(TECRL):c.965-50_965-49insTT	noncoding	Benign
4	64314590	GGTGT	G	G64314635A	TECRL	NM_001010874.5(TECRL):c.551+10AC[22]	noncoding	Benign
4	64314590	GGTGTGT	G	G64314633A	TECRL	NM_001010874.5(TECRL):c.551+10AC[21]	noncoding	Benign
4	64314590	GGTGTGTGT	G	G64314631A	TECRL	NM_001010874.5(TECRL):c.551+10AC[20]	noncoding	Benign
4	64314590	GGTGTGTGTGT	G	G64314629A	TECRL	NM_001010874.5(TECRL):c.551+10AC[19]	noncoding	Benign
4	64314590	GGTGTGTGTGTGT	G	G64314627A	TECRL	NM_001010874.5(TECRL):c.551+10AC[18]	noncoding	Benign
4	64314590	GGTGTGTGTGTGTGT	G	G64314625A	TECRL	NM_001010874.5(TECRL):c.551+10AC[17]	noncoding	Benign
4	64314591	GT	G	T64314592G	TECRL	NM_001010874.5(TECRL):c.551+56del	noncoding	Benign
4	64314593	GTGTGT	G	T64314594G	TECRL	NM_001010874.5(TECRL):c.551+50_551+54del	noncoding	Benign
4	64314593	GTGTGTGT	G	T64314594G	TECRL	NM_001010874.5(TECRL):c.551+48_551+54del	noncoding	Benign
4	64314760	AC	A	C64314761A	TECRL	NM_001010874.5(TECRL):c.438del:p.Leu148fs	coding	Pathogenic
4	64322453	T	TA	G64322476A	TECRL	NM_001010874.5(TECRL):c.435+214dup	noncoding	Benign
4	64409145	TG	T	G64409146T	TECRL	NM_001010874.5(TECRL):c.206del:p.Thr69fs	coding	Pathogenic
4	64409214	T	TA	G64409216A	TECRL	NM_001010874.5(TECRL):c.137dup:p.Arg47fs	coding	Pathogenic
4	67754305	GA	TT	G67754305T	GNRHR	NM_001012763.1(GNRHR):c.30_31delinsAA:p.Asn10_Gln11delinsLysLys	coding	Pathogenic
4	67756226	CTTCCTTCCCT	C	T67756228C	GNRHR	Single_allele	noncoding	Benign
4	70520179	AGGCCGGCTGTGCAGGCCACAGCAGATTGCTAATAGACAATGAGAGCAGCTAGAGAGCTAGTGGGGCAGGGCAGCAGGGAGGCGACACTGAAATGTCTATTCAGTATGGAAACAATACCAAATGAAACATCACGACACATAGACAAGGTATTTTTTATTATTTGTAAATGAATGTATTGAGTTAGCATAAAGGTAAAAAGAGTGAATCCATTTGCAAATGTGGACACATACAACAGCCTAGCAATTATTTTCAGTAGATCAAAATTTTGAGGATAGGTACCAGATGGAAAACACAATGAGTAGAAGAAATAAATACAAGACAAATCAAATTTACAGAAAGTGAAGGCTCTAGAAGAAAACAAGATTTTATTCCTTCAACAACTATTTATTGAGTTCTTACTATATGCCAGACATGGATTTATCTTTTTGAGATGGATCATTGAATAAACCACAGTGAAGTCTATATTTTAGCAAGGAAATAAATGATAAATGGTGAGCAGTCTAAATCAGTAGGTCACATGACAGGTTAGGAGATAGTGAGCACTATGAAAAAAAGATCCCAGAGCAGGGTGAGATGGAGCAGGCTGGTGGTGCACAGTGGAGAAGGGGCAGGCTGCATGTTCAGGACAGCAGTCAGGTTTGGCCTCAATAAGAGGGAAATTCAAGTAAAGAAACAGGTGAGAGAGTAAAGCCAATGTTCAGGGAAAGAACATTCCAGACAGAGGGAACAGGTGGAGGTGAAATTCTGAAGCAGGAATGGACTTTACCTGTTGCAGAAACAGCAAAATGGCTGGATGGCCAGAGCAGAGTGAGGGAGGGGAAATGAGGTAGGAAAGATCAGAGAGCTACTGGGGGCCCAGAGCCCTGTAGACCACTGTGGGGTCTCTGGCTTTTACTCTGAGTGAAATTGACAGTCGTTGGCCAGGCACGGTGGCTAACGCCCGTAATCCCAACACTTTGGGGGCCAAGGCAGGCGGATCACTTGAGATCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACACCGTCCCTACTAAAAATACAAAAAATTAGCTGGACGTGGTGGTGTGCACCGGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCATTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACTCCATTGCACTCCAATCTGGACAGCAGAACAAGACTCCACTTAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAGAAAAGAAAAAAAATTGGTAGTCATTGCAGAGACTGAGAAAAGAAGCAACAAGATTAGACCATCATTTTCACAGGGTCACTCTGGCTACTATACTAACAATAGATTGTGGGAGATGAAAAGACTTACTTACAAAATTTATATATATTATATATATGTATTTTATGTATATATATGTATATATAATCTTAAAGCTGAAAGGGACCTCCTAGAACAGATAATACCAACCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCACTCTGCAACCTCTGGCTCCCGGGTTCAAGTGATTCTCCTTCCTCAACCTCCCGAGTAGCTGGGACTATAAGCGTGCACCACCATGCTCAGCTAATTTTTATATTTTTAGTAAAGACAGAGTTTCATCATGTTAGCCAGGCTGGTCCTGAACTCCTGACCTCAAGTGGTCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACACGGTGGCATGAGCCACCGTGCCCAGCCCCAACCTCTCCTCATAACTAAGGGGGAAATTCCAGCGTGAAACCAAAACTGCTCCAGGGTAACCTTAGATGACTCAAGGGCTGGTGCAGAGCCAGAGGGCCACACCCCTGTGCCTTCCAGGATGCCTCCAGGAGCAAAAGCAGATTTGGTCAACCTGGCAAAAGAGAAGTTTTTTTTTCGGAGACTAAGAGCACTTAGAGGGATCTAGCACTGGCTCTGCTGCTCACCATGTCACCTTGGGCAAGTTACTGTAAGCATCAGTTGCCTCATCTATTAGAAAAAAATAATACAACTAGACCAAATGTGTAGGAGGAATATTTTCATATCTAAAAATTCAGTGATTTTTAATACACTAATAAAATATCCAGGCCAGGAAGAAAAACTGAACTTCTGTTACAAGACCGATGTGGCAGGCATGGCAATAGTGGGAAGCTTCATGAAAAGGTAGTAAGAATGACGGCAGCTTACCTCAAGCCCTGAGAAAAAGCAAATGTGCACAGAGCTAAGGTACAGATTATATATTCATGTCCTGGCAAAAGAGAAAGAAAGGTACAGAAAAGAAATGGGAGCCAGGAACCACCACAAGACATCCCATCTGCTTGGGTTCATCCCAGCCCCCTTCCCTCCACACCATCCCACCCCTCCTGGGCTGGCATTTTTCCACTCTACATGTCCTACCATGCACATAATGTTTCAGGGAATCAAACTCCTCTAAAATACACAAAGCCTAAAAGATAGACATGTTTGCATTGGTGGCAACCTGGATATAAATGGACACAAAATCTTAAACACATTCCTGCCTCATCAAATATGTATTTGTTTTCACAAAAGCAGCTCAAACCTGCTTTGGGACTCCCTCCCACAAAACTGGCTCCGGATCAGGGAACACTACCAAACCAACAGCAGTCAAATCAGGTAAGAGTCCTACAATATGGAACATGTACAAACCGGTAAAGAAAATACGGAACATGTACAAACCGGTAAAGAAAACACGTTAAGACTGGTAGGTTTAAAATCAAAATTTACATGAAGACTGTACAAGACTGAACAAGAGAGAGGCTTTTCGTTTGGGAGTGGGGAAAAGAACCGATATAATTTTCTGAAAAATTTGAATAGGAAAAGTAAAGTACTCTAATTCTTTTTCCTTTTATCTGAATAATAATTTGGTTTAGCAGTGAAATCTAGTCAACTTTGAAAAGGAATACCTACGTCTGTTTACAAAGCTTGGTCATCTATGGACTTGAGGTACTGTGGCATTATCATATGCAGTATTTGCCAGCAATAGCAGGGAATCAGAGATGATCTATAAAAAATAACTGCAGATTTCCTCCTGGCTTTGTAAAGTTTCATTGTTGCTGATGTGTTGATGTGTTGCTGTTCAATCTGTTTCTTCAAAGCGTATTTAAATACTTTTGAAAACTGCATTATCTTTTGGCTACTGCCCTCCCTCCCACTTCAACTCTTCCTCTGCTGTGAAGGGCCATGGCTTACCTACTTCTACATTTTGTGAAGTAATATAATCAGATAACACTAGAGTCTAAAGTCTTCTCCTCAGTCAACAGAACACTCAAGTCAAGACCCATTCTCCCCGCTTAAGGAATCTGAATCTTATACAATTTGGGAACCTTCTTTAAGAAAAAGAATACAAAATTCGATATGTAAAATTAAGTACTGAAATAAATATTTATAATGTGATAAGAAATAACAGTAAATCACAAATTTTCTTAAGCTGATAAGTACCGTAAGCTTGAGACATTGCTAGGGCACCTCCCAGGGCCACAAAGGGAGCAATGCTAGTGAGAGGCCCCGAGGCTTCATCTTTATTTACCTTCATGGTAAACCCACCTCTGACAGGACTGTCAATTACATGAGGATATCCACCACTGACAGAGTAAGGGAAGCAGACAACCTCTTGTCTCATACATCACTTTCAATCCCCTGCAGGTCTTTCCTTCTTTAAGTCTGATACCATTAACACAGATGCTCACACTGGGGCCAGATCTGCATCTGGTAAGTGATTGTTTATATTATTTTAATACCCATTGTGAAATAAATATAATGCCTAATATTACAGTGGGGGGAGCATGTATATGGGTGCGTATATCCACAAATGAAAACACACATATACTTATTCACATAGATAAGTTGAAAGAGAGGAGAGAAGAGTCCAAGAGAGTTGGACATCATTAAACGTTTTTCTTAGCAAGAGAGTCTCTAAACAAATTAATCTAATTCTTTCCTTCTCCAGTTTCTCTAACCTCTTCTCCTCCTCTCTCCATTCCTCCACCATACCTTCTTTAATGCCCCTACAGCATCCACACATCCACATAAACACTATCACTGCTATTATCACCCACAATGACAGGAGCAAACTGGAAGAGACAAAGATCTTCAGTGTCTTCTTATAGAATATCTGTATAGATCTTCAGCCCTCTCATAGAATATCTGTGTAATCTGTTTGAGAAGAACAATAAGTTTCTTTCCTGAGTTAAAGTGGATTTTTTTAGTGGTCAAATTTAAATATAGCTCATGTTCCAGACAAAATATGTAGTCTGAACCTCATAATTTTCACGCATAACCTAGAGGAGTTAATTTCTTAATTGTAAAAAAGCTATCAGAAAATTTTCAGGAAGAATTGCTCTTGTAGCCAAAAGGGGAAAGCAAAGATAAAAATAAATCACTTAAGTAATTCTCAAACAGAATAGGTTAAATGCCAAAGAAAAACTTAACAGGGGAAAAGTTAGCAATAGCCCTTGTAGTCGTACAAGCAGACTAAATAAGTCTTTAAATTTCATCTTTGTGTCTAAGTATACATGCAATAGAACACTATGTATTTACATAGCAACTCCTTCCTTTAAATATATTTTACGTTTAGTAAAAACATTTTAGTTTCCTAAATGTCCAAACTGAAAAAAAATACAATGAAAGTCTTCTTCCTTGCCCTACAGTTAAATCCTGCTGCAGGAATGACACCTGGTACCCAGACCCACCCATTGACCCTGGGAGGGTTGAATGTACAACAGCAACTGCACCCACATGTAAGTTGAACAGCTGGACCTTAGTTTTAACATTAGAGAGCATTTTCTCTCAGGTGAAAGCCTACAGTAGAAATTTTTTAAAGCTTCTTGAAAATTTTGCCCAGATTATTAACTGACGAATGTTCTGCTGAACATAGACCAGTATTTGACAATCTGGTTCTTAATGAAAATTCATAAACATACCCAGAGAACTGACCATGCTACCTCACAACTTCTCTAGAATATATGTTTAATGGACAGGAAACCTTGAAAAGTTGGGGAAGATTGAAAAGTGAAAAATACATGGGGGGAAGTTGAGAGATCCCAGGATTTTTCTCTAGCATATTGTTTTCTCTTGAAGACTTTCTTGGTGACCAAGATCATCTCAAAGAAAAATTAAGAGGTGGATAAAGTTTATCTTCAGCAAATCTAATTGTCCCATTTTTGCGCCTTTTCATTCCCCCTTGAAAGTCCCCAAGGACTTTTCAGTATTTACCACCTCCCACTATCACTTGCTTTCAAAAAAACGAAACCTGAAAATCCTCTTACACTAAGATATAAACGACATACTTTAGGCATCACCTGTTTTTGAAGTGTTTGCATTTTAACATTGAACAAATTCCAAATTTTTACCTTATCGAAACTTTTCTAAATAGTGTAATAGGCTCCAGAGGGGCTGGGTGCAGTGGCCCACGCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGCATTTGAGACCAGCCTGGGCAACATAGTGAGACTTATCTCTACAAAAAATAAAATAAAATAAATAGCCAGGCGTGGTGGGGCTCACCTATAGTCCCAAGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAGCAAGGGAGGTCAAGGCTGCAGTGAGCAGCGATTGTGTCACTGCACTCCATCCTGGGTGATGAAGGGGGATTCTGTCTCAAAAAAAAAGAGAAGGAAAAGAAAGTCTCTGGAGGAAAATACAATAATCCTTTTACAGCAAGACTAAGTTGTTTGTAGATAACTTATTCTCCCCAACATGTGACCTCGGCCCCCATTATCCAACATAATGGTCTAATTTTTTGTAGAAGCATTTATTATTGTGTAAGTAATATATGTTAATTATAAAGAATTTAGGAAATGTAAATTTTCTAAAATTTACATATAAGCAAAAAATAAAATAAAATTCACTTGGAATCTCATTAGCCATAATCAAACACTGTCAACATTCTAGAGTATGTCCTTCCAGTCTTTTTTCTATACACATAAGTACATTTTTAAATAAAATGTTTTTGCTATAATGTTTTGTAACATGCTTTTTTCCACAAATATATTTTGAATAGTTTTCATGTTTTAAAATATTCACTCACAATGTTGTTTTTAATGACTGCTTAGTAGTCCATGGTATACTAAATTACTTATTATGAAAATTTGGGGGTTTTTCCAAAGTCTTTGCTTCTATAAACAATGCTACAGTGAGCATCCTTGTGACTAAGTCTATGATATTCCAATGACTATTTCCTTTGGACCAACTCTTAGGAACACAATTTCTGGAGCCAAAGACACACAAAGTATCTTGATAATAAAATTTTTGATAATAAAAGTGAACCTCTGTAAAAGATTTAAGATGCAAATAAAAAGAGACTCTCCATAACAGGTGATCATACTATAATCTACATACTGATTGCCCAGCTTCAGTCTCCATTGTTGCCCTCCTCTAACCTTGAAGGTAGACTTACTGCATCTTCATGTTCCCCAGAGAGTACCCTCCTAAGTCAAGGCATTAGTGGAGCCTGGAGATGTTACAAAAGTTTCAGTACAGAGAGTTTCACGTTGTACACTCTCTGTGCAATATTATAAATCAGTCCCCATTTGCTGTGGGAATTCTTCAATGTCTCTAGAATGTGCTACCACCAAGGGTTCCCATACCTGACCTTCCCCTGGGCAGCTCTAGTCCCTCCAACCCTGCCTTTCCCTGTGCAGAGTGGCTTATTATCTCTGCCACAACCTGGACACCTACTGGTGGCTCGCATTTATCAAAGAAAAATGAACCATGCTTGTGAACTCTAGAACCACACAATTTCTGGTTAAATGTCAGCTCTACACTTATTACTTATATGATGTTGGCCAAGTTACTTAACCACTCTGTGGCTCATTTTGCTCAAAATTTAAAATGGGCATTAAAGTAGAACCTTCCTCTACAGCTGTTGCAAAGATCAAATGAGTAAATATATGGAAAACACTTAAAACAATGCCTACCACATAGTAAACATGCGATGTGTTATTACGATTTCAAATAATTTCTCTACCGACAACTAAGAAAAAAGTCCTCTTTATTGTTATATTGGTGAACAATTAGAGTACCTTTCATTACAGTTTTTACTTAGACATCTATGGTTTCCTCTTTTTATCTTTTTGTTCTTTCCACTCCAACTTTCCATTAAAAAAGAAATTTCCATTTCATTTTCTCTTAAATCAAAAATATACCAACCACTTTCCCATTGCCACGTGAAGGCTAGTTGGGTTTTTTGTTCTTGTTTTGTTGTCCTTTTTTGTCAGTAGAGAAGGACCTGATTGTGAGTAAGGCTTTTTAATAAATGTACGTAATTTTTCCTTGTTGGCATTCCATAGTTCCATAATTCCTGCACCAACTGTCTTGGGAAACAATAGTTAACAGTCTATTTCATAAGACTTTCAAATCTTCTGGTTTGGTAATTATGAAATTAAGAGTCCCATTTTGATTACTTTCCTGACACTTTGAATTTTCTATAGAAATAAGAATAAATTTTTAAAACCTTAGCTTTCTTTGACAAACTTCTGGCCGGTTCTCAAAGTAGCAGAGTATGGGAGAATGCCAACACCTCACTCGAATCTTTTTCATCTTTTTGTGAACTAAATTTATAATATTTAGTTTGTTATCAGTGACCCTTGAATTATTTCTCGCCTAGTACTAAGAGCTATACCAATGCCAGGGGTTACTGAGCAATATTCCCTATAATTGCTTTATTTTAACAGCAAGATGTCCAGACAACTATTGCAAGACTAAGTATATATACCTCAAGAAATCTTCACATTTGAAAATACCCATCGCGTGTTTTAATGTGTCTTCTGAGATGCCATTTGAAAGAAATCTGTACATTTTAACATTATTGTTACTTGAAATAATTTTCAGTTTGGAGACTTCTTGAGAACAATTTTTTTTTGTTGTTTATCCAGTTTACTAACTTCTATCTTCTAAATGTGCTATCTTGAACTGGTTTCTAAATCTCTTGGGACTAATATTCTTTTTACAAATTGGAAAAGTTCCAAACTCCCATCCAGATCTATGAATTTATATCTATGATTATAGATAATACATTAGTAATAAATATCTGTTTAACAGATACTATATCCTTTTAAGAAGATATCAATGGCCGGGCGAGGTGGCTCATGCCTGTAATCCAAGAGCTTTGGAAGGCTGAGGCAGGCAGATCACAATGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAACTGGGCATAGTAGCAGGCAACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCCAAAAAAAGATATCAGTATTTATACCATCTTCCAGAGCTTACTTTTGAAAGAGTTTTTCTCTCATTTTTTCAGGTGTTACCAATTTTTGTCACACAACTTGGAGCCCAGGTAAAAATTATGCTTAATATTGTCTTGATTTTAAATCACCTTGCTGTGAAAGGTGATTTTCTTTCCTCAATTCACTAGATAGTTGTGAGGTTTCCAAT	CTCA	A70520179C	AMTN	NM_212557.4(AMTN):c.54+1348_330+98delinsCTCA	noncoding	Pathogenic
4	70636054	T	TAGAG	A70636056G	ENAM	NM_031889.3(ENAM):c.534+161_534+162insGAGA	noncoding	Benign
4	70637837	AG	A	G70637844T	ENAM	NM_031889.3(ENAM):c.588+1del	coding	Pathogenic
4	71486878	C	CTT	C71486879T	SLC4A4	NM_001098484.3(SLC4A4):c.1904-70_1904-69insTT	noncoding	Benign
4	71531827	A	AG	A71531828G	SLC4A4	NM_001098484.3(SLC4A4):c.2167-235_2167-234insG	noncoding	Benign
4	71531828	A	AG	A71531829G	SLC4A4	NM_001098484.3(SLC4A4):c.2167-234_2167-233insG	noncoding	Benign
4	71534586	GA	G	A71534598G	SLC4A4	NM_001098484.3(SLC4A4):c.2442+210del	noncoding	Benign
4	72568662	GT	G	T72568671A	ADAMTS3	NM_014243.3(ADAMTS3):c.69+31del	noncoding	Benign
4	73092264	CAATT	C	A73092265G	ANKRD17	NM_032217.5(ANKRD17):c.5360_5363del:p.Gln1787fs	coding	Pathogenic
4	73102482	CCTTCT	C	C73102491T	ANKRD17	NM_032217.5(ANKRD17):c.4462_4466del:p.Arg1488fs	coding	Pathogenic
4	73113848	CCTGT	C	G73113851A	ANKRD17	NM_032217.5(ANKRD17):c.4341_4344del:p.Gln1448fs	coding	Pathogenic
4	73409361	ATAT	A	T73409362G	ALB	NM_000477.7(ALB):c.490_492del:p.Tyr164del	coding	Pathogenic
4	73409365	GAAATT	G	A73409366G	ALB	NM_000477.7(ALB):c.494_498del:p.Glu165fs	coding	Pathogenic
4	73410354	C	CA	G73410356A	ALB	NM_000477.7(ALB):c.659dup:p.Arg221fs	coding	Pathogenic
4	73412059	GACAGATCTTACCAAAGTC	G	A73412060C	ALB	NM_000477.7(ALB):c.778_795del:p.Thr260_Val265del	coding	Pathogenic
4	73418228	CA	C	A73418231G	ALB	NM_000477.7(ALB):c.1572del:p.Glu525fs	coding	Pathogenic
4	73419590	TAGAG	T	G73419592A	ALB	NM_000477.7(ALB):c.1738_1741del:p.Glu580fs	coding	Pathogenic
4	73421167	GCCAACAC	G	A73421170T	ALB	NM_000477.7(ALB):c.*102_*108del	noncoding	Pathogenic
4	76161917	TCAG	T	C76161921G	SCARB2	NM_005506.4(SCARB2):c.1399-169_1399-167del	noncoding	Benign
4	76163381	ACT	A	C76163384G	SCARB2	NC_000004.11:g.77084535_77084536del	coding	Pathogenic
4	76170033	AAGCTG	A	G76170040A	SCARB2	NM_005506.4(SCARB2):c.995-53_995-49del	noncoding	Benign
4	76174287	TA	T	A76174288G	SCARB2	NM_005506.4(SCARB2):c.850del:p.Tyr284fs	coding	Pathogenic
4	76176501	CAT	C	T76176503G	SCARB2	NM_005506.4(SCARB2):c.638_639del:p.Tyr213fs	coding	Pathogenic
4	76195746	TC	T	C76195750T	SCARB2	NM_005506.4(SCARB2):c.235del:p.Glu79fs	coding	Pathogenic
4	76213130	TG	T	G76213134T	SCARB2	NM_005506.4(SCARB2):c.117+296del	noncoding	Benign
4	76213495	GC	G	C76213496A	SCARB2	NM_005506.4(SCARB2):c.48del:p.Leu17fs	coding	Pathogenic
4	76436338	C	CT	C76436339T	SHROOM3	NM_020859.4(SHROOM3):c.168+118_168+119insT	noncoding	Benign
4	76436344	T	TAAA	G76436345A	SHROOM3	NM_020859.4(SHROOM3):c.168+124_168+125insAAA	noncoding	Benign
4	76756405	T	TCTC	T76756406C	SHROOM3	NM_020859.4(SHROOM3):c.4710-44_4710-43insCTC	noncoding	Benign
4	78252442	TG	T	G78252446A	FRAS1	NM_025074.7(FRAS1):c.364del:p.Glu122fs	coding	Pathogenic
4	78337750	TACCA	T	C78337752T	FRAS1	NM_025074.7(FRAS1):c.2357_2360del:p.Thr786fs	coding	Pathogenic
4	78337769	AC	A	C78337771A	FRAS1	NM_025074.7(FRAS1):c.2376del:p.Ser793fs	coding	Pathogenic
4	78364023	GC	G	C78364024A	FRAS1	NM_025074.7(FRAS1):c.2692del:p.His898fs	coding	Pathogenic
4	78372871	AGGCCCTGCTCTGTGCT	A	G78372872C	FRAS1	NM_025074.7(FRAS1):c.3010+14_3010+29del	noncoding	Benign
4	78407729	AT	A	T78407730G	FRAS1	NM_025074.7(FRAS1):c.4197del:p.Asp1399fs	coding	Pathogenic
4	78418985	TC	T	C78418988T	FRAS1	NM_025074.7(FRAS1):c.4465del:p.Leu1489fs	coding	Pathogenic
4	78432552	CT	C	T78432553G	FRAS1	NM_025074.7(FRAS1):c.5166del:p.Val1723fs	coding	Pathogenic
4	78451752	A	AT	C78451761T	FRAS1	NM_025074.7(FRAS1):c.6464-12dup	noncoding	Benign
4	78466428	G	GA	G78466433A	FRAS1	NM_025074.7(FRAS1):c.7254dup:p.Glu2419fs	coding	Pathogenic
4	78475580	CA	C	A78475581G	FRAS1	NM_025074.7(FRAS1):c.7826del:p.Gln2609fs	coding	Pathogenic
4	78477928	CCT	C	C78477929G	FRAS1	NM_025074.7(FRAS1):c.7966_7967del:p.Leu2656fs	coding	Pathogenic
4	78499715	CC	TG	C78499715T	FRAS1	NM_025074.7(FRAS1):c.9116-6_9116-5delinsTG	noncoding	Benign
4	78540628	TC	T	C78540629A	FRAS1	NM_025074.7(FRAS1):c.11544del:p.Arg3849fs	coding	Pathogenic
4	79978369	CA	C	A79978383C	ANTXR2	NM_058172.6(ANTXR2):c.1180-196del	noncoding	Benign
4	79978369	C	CA	C79978384A	ANTXR2	NM_058172.6(ANTXR2):c.1180-209dup	noncoding	Benign
4	79984831	AG	A	G79984835C	ANTXR2	NM_058172.6(ANTXR2):c.1073del:p.Pro358fs	coding	Pathogenic
4	80054603	AGAG	A	G80054606A	ANTXR2	NM_058172.6(ANTXR2):c.556-254_556-252del	noncoding	Benign
4	80069209	G	GATCT	G80069215T	ANTXR2	NM_058172.6(ANTXR2):c.296+223_296+226dup	noncoding	Benign
4	80073520	A	AC	T80073525C	ANTXR2	Single_allele	noncoding	Benign
4	80073582	GT	G	T80073598C	ANTXR2	Single_allele	noncoding	Benign
4	81089714	G	GT	C81089716T	PRKG2	NM_006259.3(PRKG2):c.2282dup:p.Asp761fs	coding	Pathogenic
4	81174929	A	AT	A81174932T	PRKG2	NM_006259.3(PRKG2):c.491dup:p.Asn164fs	coding	Pathogenic
4	82355277	C	CA	C82355287A	HNRNPD	NM_031370.3(HNRNPD):c.*30+18dup	noncoding	Benign
4	82374065	G	GT	C82374078T	HNRNPD	Single_allele	noncoding	Benign
4	82426156	TAAGA	T	A82426157T	HNRNPDL	NM_031372.4(HNRNPDL):c.1193-31_1193-28del	noncoding	Benign
4	82426689	T	TA	T82426694A	HNRNPDL	NM_031372.4(HNRNPDL):c.1022-60dup	noncoding	Benign
4	83267859	G	GT	G83267867T	COQ2	NM_001358921.2(COQ2):c.763-92dup	noncoding	Benign
4	83279296	GAAGA	G	A83279301G	COQ2	NM_001358921.2(COQ2):c.254-186_254-183del	noncoding	Benign
4	83279332	A	AAC	T83279336C	COQ2	NM_001358921.2(COQ2):c.254-220_254-219dup	noncoding	Benign
4	83462219	TC	T	C83462220T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.*249del	noncoding	Benign
4	83467600	AACTT	A	C83467602T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.597-66_597-63del	noncoding	Benign
4	83467604	TATTC	T	C83467608G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.597-70_597-67del	noncoding	Benign
4	83469316	G	GTT	G83469332T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.477-180_477-179dup	noncoding	Benign
4	83476711	ATTAAT	A	T83476713C	ABRAXAS1	NM_139076.3(ABRAXAS1):c.179-37_179-33del	noncoding	Benign
4	83482337	A	AG	A83482338G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.88-94_88-93insC	noncoding	Benign
4	83482338	A	AG	T83482339G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.88-95_88-94insC	noncoding	Benign
4	83484937	C	CG	A83484938G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.87+48_87+49insC	noncoding	Benign
4	83484938	A	AG	C83484942G	ABRAXAS1	NM_139076.3(ABRAXAS1):c.87+45dup	noncoding	Benign
4	84690762	AC	A	C84690764A	WDFY3	NM_014991.6(WDFY3):c.9205-99del	noncoding	Benign
4	84696003	C	CCCAA	T84696008C	WDFY3	NM_014991.6(WDFY3):c.8864_8867dup:p.Phe2957fs	coding	Pathogenic/Likely_pathogenic
4	84696848	TA	T	A84696857G	WDFY3	NM_014991.6(WDFY3):c.8597-26del	noncoding	Benign
4	84726788	T	TA	C84726799A	WDFY3	NM_014991.6(WDFY3):c.7272+63dup	noncoding	Benign
4	84736533	ATAGT	A	A84736535G	WDFY3	NM_014991.6(WDFY3):c.6758-210_6758-207del	noncoding	Benign
4	84736994	T	TA	T84737014A	WDFY3	NM_014991.6(WDFY3):c.6757+171dup	noncoding	Benign
4	84789669	ACC	A	C84789674A	WDFY3	NM_014991.6(WDFY3):c.3669+55_3669+56del	noncoding	Benign
4	84794502	C	CA	T84794512A	WDFY3	NM_014991.6(WDFY3):c.3487+8dup	noncoding	Benign
4	84809702	T	TA	C84809718A	WDFY3	NM_014991.6(WDFY3):c.2345+170dup	noncoding	Benign
4	84810388	CA	C	A84810403C	WDFY3	NM_014991.6(WDFY3):c.1888-45del	noncoding	Benign
4	84810388	C	CA	C84810404A	WDFY3	NM_014991.6(WDFY3):c.1888-59dup	noncoding	Benign
4	84841217	ACT	A	C84841220G	WDFY3	NM_014991.6(WDFY3):c.349_350del:p.Gln116_Ser117insTer	coding	Pathogenic
4	85570364	CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C	T85570391C	ARHGAP24	NM_001025616.3(ARHGAP24):c.-20-157TCTT[6]	noncoding	Benign
4	85570364	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C	T85570387C	ARHGAP24	NM_001025616.3(ARHGAP24):c.-20-157TCTT[5]	noncoding	Benign
4	85570386	CTTT	C	T85570387C	ARHGAP24	NM_001025616.3(ARHGAP24):c.-20-135_-20-133del	noncoding	Benign
4	85570431	C	CT	C85570443T	ARHGAP24	NM_001025616.3(ARHGAP24):c.-20-80dup	noncoding	Benign
4	85931054	AT	A	T85931055A	ARHGAP24	NM_001025616.3(ARHGAP24):c.391+7285del	noncoding	Benign
4	85942053	CT	C	T85942062A	ARHGAP24	NM_001025616.3(ARHGAP24):c.392-4del	noncoding	Benign
4	86000456	A	AC	A86000465C	ARHGAP24	NM_001025616.3(ARHGAP24):c.2004-15dup	noncoding	Benign
4	87310240	T	TA	C87310242A	HSD17B13	NM_178135.5(HSD17B13):c.812+2dup	noncoding	Benign
4	87611030	A	AGT	C87611064T	DSPP	NM_014208.3(DSPP):c.51+72GT[17]	noncoding	Benign
4	87611030	A	AGTGT	C87611064T	DSPP	NM_014208.3(DSPP):c.51+72GT[18]	noncoding	Benign
4	87611030	A	AGTGTGT	C87611064T	DSPP	NM_014208.3(DSPP):c.51+72GT[19]	noncoding	Benign
4	87611030	A	AGTGTGTGTGT	C87611064T	DSPP	NM_014208.3(DSPP):c.51+72GT[21]	noncoding	Benign
4	87611030	AGT	A	T87611062C	DSPP	NM_014208.3(DSPP):c.51+72GT[15]	noncoding	Benign
4	87611030	AGTGT	A	T87611060C	DSPP	NM_014208.3(DSPP):c.51+72GT[14]	noncoding	Benign
4	87612011	TTG	T	T87612040C	DSPP	NM_014208.3(DSPP):c.52-93TG[14]	noncoding	Benign
4	87612011	T	TTG	C87612042T	DSPP	NM_014208.3(DSPP):c.52-93TG[16]	noncoding	Benign
4	87612102	CA	C	A87612103G	DSPP	NM_014208.3(DSPP):c.52-2del	noncoding	Pathogenic
4	87614529	AAGTC	A	T87614532A	DSPP	NM_014208.3(DSPP):c.1870_1873del:p.Ser624fs	coding	Pathogenic
4	87614861	TAGCAGTGACAGCAGCAAC	T	C87614876T	DSPP	NM_014208.3(DSPP):c.2214_2231del:p.Asn739_Ser744del	coding	Benign
4	87614933	TAGCAGTGACAGCAGCAAC	T	C87614948T	DSPP	NM_014208.3(DSPP):c.2286_2303del:p.Asn763_Ser768del	coding	Benign
4	87615088	GC	G	C87615089A	DSPP	NM_014208.3(DSPP):c.2427del:p.Ser809fs	coding	Pathogenic
4	87615305	T	TAGTAGTGAC	C87615308T	DSPP	NM_014208.3(DSPP):c.2645_2646insTAGTGACAG:p.877SDS[4]	coding	Benign
4	87615390	AACAGCAGTG	A	C87615401T	DSPP	NM_014208.3(DSPP):c.2730CAGCAGTGA[1]:p.913DSS[1]	coding	Benign
4	87615491	CAGCAGTGAT	C	T87615500C	DSPP	NM_014208.3(DSPP):c.2838_2846del:p.943DSS[2]	coding	Benign
4	87615611	CGATAGCAGTGACAGCAGT	C	T87615632C	DSPP	NM_014208.3(DSPP):c.2952TAGCAGTGACAGCAGTGA[1]:p.984DSS[4]	coding	Benign
4	87615716	TAGTGACAGCAGCAATAGC	T	T87615731C	DSPP	NM_014208.3(DSPP):c.3069_3086del:p.1017NSSDSS[2]	coding	Benign
4	87615730	ATAG	A	T87615731C	DSPP	NM_014208.3(DSPP):c.3069_3071del:p.Ser1025del	coding	Benign
4	87615734	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C	T87615737C	DSPP	NM_014208.3(DSPP):c.3075_3107del:p.Asp1026_Ser1036del	coding	Benign
4	87615749	CAGCAGTGACAGCAGCGAT	C	C87615800T	DSPP	NM_014208.3(DSPP):c.3102CGATAGCAGTGACAGCAG[2]:p.1032DSS[6]	coding	Benign
4	87615800	CGATAGCAGTGACAGCAGT	C	T87615803C	DSPP	NM_014208.3(DSPP):c.3141_3158del:p.1032DSS[6]	coding	Benign
4	87615827	C	CG	A87615828G	DSPP	NM_014208.3(DSPP):c.3165_3166insG:p.Asn1056fs	coding	Pathogenic
4	87615920	TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC	T	T87615926C	DSPP	NM_014208.3(DSPP):c.3264_3317del:p.Asn1092_Ser1109del	coding	Pathogenic
4	87615920	TAGCAGTGACAGCAGCAATAGCAGTGAC	T	T87615926C	DSPP	NM_014208.3(DSPP):c.3264_3290del:p.Asn1092_Ser1100del	coding	Benign
4	87615920	TAGCAGTGAC	T	T87615926C	DSPP	NM_014208.3(DSPP):c.3264_3272del:p.1086DSS[1]	coding	Benign
4	87615952	GCGA	G	C87615953T	DSPP	NM_014208.3(DSPP):c.3291_3293del:p.Asp1098del	coding	Pathogenic
4	87615998	CGATAGCAGT	C	T87616001C	DSPP	NM_014208.3(DSPP):c.3339_3347del:p.1095DSS[8]	coding	Benign
4	87615999	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	G	T87616001C	DSPP	NM_014208.3(DSPP):c.3339_3419del:p.Asn1122_Ser1148del	coding	Benign
4	87616019	CAGCAGCAAT	C	C87616025T	DSPP	NM_014208.3(DSPP):c.3363_3371del:p.Asn1122_Ser1124del	coding	Benign
4	87616064	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	T	T87616070C	DSPP	NM_014208.3(DSPP):c.3408_3452del:p.Asn1140_Ser1154del	coding	Benign
4	87616078	G	GTGA	C87616079T	DSPP	NM_014208.3(DSPP):c.3416_3417insTGA:p.Ser1139_Asn1140insAsp	coding	Benign
4	87616080	A	AGCAGCG	A87616081G	DSPP	NM_014208.3(DSPP):c.3418_3419insGCAGCG:p.Asn1140delinsSerSerAsp	coding	Pathogenic
4	87616080	A	AGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGATAGCAGCGATAGCAGTGACAGCAGCG	A87616081G	DSPP	NM_014208.3(DSPP):c.3418_3419insGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGATAGCAGCGATAGCAGTGACAGCAGCG:p.Asn1140delinsSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAsp	coding	Pathogenic
4	87616109	A	AAGCAGCGACAGCAGCGAT	T87616124C	DSPP	NM_014208.3(DSPP):c.3461_3462insCGATAGCAGCGACAGCAG:p.1152DSS[11]	coding	Benign
4	87616145	CAGCAGCGAT	C	T87616154C	DSPP	NM_014208.3(DSPP):c.3492_3500del:p.1152_1154DSS[8]	coding	Benign
4	87616280	TAGCAGTGACAGCAGTGAC	T	T87616286C	DSPP	NM_014208.3(DSPP):c.3624_3641del:p.1181SDS[15]	coding	Benign
4	87616295	TGACAGCAGC	T	C87616304T	DSPP	NM_014208.3(DSPP):c.3642_3650del:p.1181SDS[16]	coding	Benign
4	87616370	C	CAGCAGTGACAGCAGCGAT	A87616404G	DSPP	NM_014208.3(DSPP):c.3724_3741dup:p.1236DSS[6]	coding	Benign/Likely_benign
4	87657018	AC	A	C87657019T	DMP1	NM_004407.4(DMP1):c.55-13del	noncoding	Benign
4	87661647	G	GT	A87661664T	DMP1	NM_004407.4(DMP1):c.184-299dup	noncoding	Benign
4	87661647	G	GTT	A87661664T	DMP1	NM_004407.4(DMP1):c.184-300_184-299dup	noncoding	Benign
4	87661647	G	GTTT	A87661664T	DMP1	NM_004407.4(DMP1):c.184-301_184-299dup	noncoding	Benign
4	87662068	AAGG	A	G87662074A	DMP1	NM_004407.4(DMP1):c.293GAG[1]:p.Gly99del	coding	Benign
4	87662072	AGG	A	G87662073A	DMP1	NM_004407.4(DMP1):c.295_296del:p.Gly99fs	coding	Pathogenic
4	88007840	TG	T	G88007843C	PKD2	NM_000297.4(PKD2):c.110del:p.Gly37fs	coding	Pathogenic
4	88007881	CG	C	G88007885C	PKD2	NM_000297.4(PKD2):c.152del:p.Gly51fs	coding	Pathogenic
4	88008154	C	CT	G88008157T	PKD2	NM_000297.4(PKD2):c.423dup:p.Gly142fs	coding	Pathogenic
4	88019329	TA	T	A88019342G	PKD2	NM_000297.4(PKD2):c.596-116del	noncoding	Benign
4	88019463	TG	T	G88019467A	PKD2	NM_000297.4(PKD2):c.605del:p.Gly202fs	coding	Pathogenic
4	88019499	C	CGA	A88019506G	PKD2	NM_000297.4(PKD2):c.642_643dup:p.Lys215fs	coding	Pathogenic
4	88019520	GT	G	T88019524A	PKD2	NM_000297.4(PKD2):c.662del:p.Leu221fs	coding	Pathogenic
4	88036261	CG	C	G88036263A	PKD2	NM_000297.4(PKD2):c.753del:p.Arg251_Met252insTer	coding	Pathogenic
4	88036288	A	AC	G88036294C	PKD2	NM_000297.4(PKD2):c.783dup:p.Val262fs	coding	Pathogenic
4	88038252	T	TCA	G88038257C	PKD2	NM_000297.4(PKD2):c.848_849dup:p.Glu284fs	coding	Pathogenic
4	88038267	T	TG	A88038268G	PKD2	NM_000297.4(PKD2):c.860_861insG:p.Leu288fs	coding	Pathogenic
4	88038355	A	AG	T88038360G	PKD2	NM_000297.4(PKD2):c.952dup:p.Val318fs	coding	Pathogenic
4	88043282	A	ATCAT	G88043288C	PKD2	NM_000297.4(PKD2):c.1146_1149dup:p.Ala384fs	coding	Pathogenic
4	88043331	CAA	C	A88043332G	PKD2	NM_000297.4(PKD2):c.1194_1195del:p.Glu400fs	coding	Pathogenic
4	88043334	GA	G	A88043335G	PKD2	NM_000297.4(PKD2):c.1197del:p.Glu400fs	coding	Pathogenic
4	88043342	AC	A	C88043343A	PKD2	NM_000297.4(PKD2):c.1205del:p.Thr402fs	coding	Pathogenic
4	88046642	G	GT	A88046645T	PKD2	NM_000297.4(PKD2):c.1322dup:p.Leu441fs	coding	Pathogenic
4	88046764	GT	G	T88046767C	PKD2	NM_000297.4(PKD2):c.1445del:p.Phe482fs	coding	Pathogenic
4	88047175	G	GT	C88047185T	PKD2	NM_000297.4(PKD2):c.1548+314dup	noncoding	Benign
4	88052140	A	AT	G88052147T	PKD2	NM_000297.4(PKD2):c.1704dup:p.Val569fs	coding	Pathogenic
4	88056236	GTCGAT	G	T88056237G	PKD2	NM_000297.4(PKD2):c.1868_1872del:p.Val623fs	coding	Pathogenic
4	88058058	AATTT	A	A88058063C	PKD2	NM_000297.4(PKD2):c.1979_1982del:p.Tyr660fs	coding	Pathogenic
4	88058068	AC	A	C88058069T	PKD2	NM_000297.4(PKD2):c.1985del:p.Thr662fs	coding	Pathogenic
4	88058069	CT	C	T88058070A	PKD2	NM_000297.4(PKD2):c.1986del:p.Thr663fs	coding	Pathogenic
4	88058079	GTTCT	G	C88058082A	PKD2	NM_000297.4(PKD2):c.1998_2001del:p.Phe666fs	coding	Pathogenic
4	88061737	CA	C	A88061748T	PKD2	NM_000297.4(PKD2):c.2020-158del	noncoding	Benign
4	88061931	ATACT	A	T88061936C	PKD2	NM_000297.4(PKD2):c.2050_2053del:p.Tyr684fs	coding	Pathogenic
4	88063769	ATGAAGATGTCTTGAGGAAATGATGCCTGCAAAAAACTTCACATTAAGGGAAGTCTTATTAGAGATATTTCACAATAATGAAAGTACAAAAGAAAAAATGTTGGGGCTGGACATGGTGGCTTACTCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGTGGATCACTTGAGGCCAGGAAGTCGAGACAAGCCTGATCAACATGATGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCAGACATGATGGTGCACACCTGTAATTCCAGCTACTCAAGTGGCTGAGGCACGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTAAGCTGAGATTGCACCACTGCAATCCAGCCAGGTGACAGGGTAAGACTGTGTCTCAAAAATAAATAAAAGAAAAATATGTTGGAAGCTCATCCACATTTAAGAAGGAATATGACAATTCACTAATGCATAGAAAAGAAGTTCACTCCACATTGTAAAGTGTACAGTGTAATATTATACAATGAAAACAAGGCAAGTGCTGTTTAAACTACTCTGGATACATTTTTTACAAAGAAATAAAACACTTTAGTTTTTAATGTTTCTAATGTTTTACATTTTAGTGTATTAAATCAATATTAGTTTTCTTCTTTTTTAAGCTCCCTATACATTTATAACTGACACTAAGGGAGTGTTTAATGTTTTGATTAAAAGTTGTAAAGATCACAGAACAATTGTAATTCTTCCCACTGATTATTCAGATCATTTTGCACAATTTCAGCTTGCATGGTCACTTACAGTGCCGCACTATGTGCAAAGCAAGGTCAGGTCTAAAGTTCGCTAATGAAAAATCCTCGGCCAGGGGCAGTGGCTCACCCCTGTAATCCTAGCACTTTGGAAGGCGAGGCAGGCAGATCGCTTGAGCTCAGGAGTTCAACACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACAAAAAAAAAAAAATAGCAAGGCGTGGTGACTCACACCTGTAGTCCCAGCTACTTGTTGGGGGCTGAGTTGGGAAAATCACTTGAGCTCAGGAGGTCGAGGCTGCAGTGAGCCAGAATCACGCCACTGCCCTTCTGCCTGGGTGACAGAGTAAGATCCTGTCTCAAAAAAAGGGAAAATCCTCATCTACATTTCACTGGGTTTTTTGTTTGTTTGTTTGTTTGTTTATACACACTTAAGGAAATTACTGTCTAGAAGATAGATAATATAAAAAATAAAAATGCAATTCATGATTCGGGTTTCTTGGTATTCCTAAGAACTGTTGCACAGTACTTTATGCTCTGAGGCAGACAGCTATAGCATATATAGTAATTTTTGTTTCTATCACATAAACTTGAATACACATATGAGTAAAAGACCTTTAGTTCTTCATGACTTACTGAAAGACCCTGACTTTTTCCATGTAACTGTTCCACAAGTGTTTTATGGAAAACTGGATACATTAATTCTTCATTCATCCAGCACGTACTTGTTGAATGGCCAATGTACACCAGGTTTGTAGTAGTTACTACTGTGAATGGAAAGTAAAACAGATGCAAAAGGAGAATACACTAAACCAAGTCTTTTATTTTTTCTCTCTCTGATAGGGCTACCATAAAGCTTTGGTCAAACTAAAACTGAAAAAAAATACCGTGGATGACATTTCAGAGAGTCTGCGGCAAGGAGGAGGCAAGTTAAACTTTGACGAACTTCGACAAGATCTCAAAGGGTGAGAATCATGCTTCCTGAGGTTCTGAAAAATTCCTGCTTCTAAAGATAAATTCCTGGTGATAAGAGTATTTCTAGCCCAAGGGCTCATACAGATACTTTTTTTTTTTTTTTCCAGAGGCAGGTATCTTTCTGGAACATGTTATAAGAGGAAAACTTGCCCCCATTTGGTGATTTCTCCTTTCCTCCTGCATTTTGATGTCTCTGTGTTGAGGGTGAACTGGGTACAAGGAATGATTTTTATCTGTATCCTCTCTCTAATTTCAGGAAGGGCCATACTGATGCAGAGATTGAGGCAATATTCACAAAGTACGACCAAGATGGAGACCAAGAACTGACCGAACATGAACATCAGCAGATGAGAGACGACTTGGAGAAAGAGAGGGTGGGTCTGGTTTAGGAGAACCGGATTTGATTTGGTACCTACAACACCACAGATGTATCAAACACTATAGAAGTAGTGGGTTATTGAGTCTCTTGCCCATTCCCCACCACACTCTCTCTCTCTCTCAGTCGGTTTATGTGTTAGTACCCTGTTTATTCCAGAAAGAATATATAACACAATTATGTATAAAAATGGGTGGTTAGCATGATATAAAAACGTCAAAATGAAAAGCAAGCAAAACAAAAGTAAAAATAATGGATTATTAATGAAGCTTAAAAATGCATTCATAAAAACACATATGCTTATTAAGATTGGGCTACAAATTGGGCCCTAAGCTTGCTGGTAATCAGCTTGAAAAGAGAAGCCTGATTAGCTGCAGAGTCCACAATGTCCGTGAGAGTGAAGAAAACAAAAAATGACTTACCAAGAGATGTGAAATTATTCTGGTTAGTTAGTGGCTATTTAAATTGTTAACTTTTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGCCTCCCAGGCTGGAGTGCAGTGGCACAATCGCGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCACATGCCATCATGCCCGGCTAATTTTTGTATTTGTAGTAGATATGGGGTTTCACCATGTTGGTCTCAAACTCCTGACTGCAAGCAATCTGCCCACCTTGGCCTCCCAAAGTGGTGGGATTACAGGCAGTAGCCACCGTGCCTTTCCTAAATTATTAACATTTATAATAAAATTAACAGCCGCCTTCCATTTGAATACTTTTTACAAAATAGTTAAAAATAAACATAAGTGGGCTTTTATAGTCAGAAAAAAAAATTCAAAGCTTTACCATTAACTTTCAAAAATAAATGGTTAGACAGCAACAACAAAAATCTGTGGTAACTGAGGTACAGAGAACACAGATGAATGTTATTACAAAAGCCACTTTCCTATGAGAAGTCTAGGACAGTGGTTTCTAAATGCCACTCCACAGACAGTGCTAGTAGGTGACAGACTTCTCCAGTCACAGTGAAATTTAAGCATAAAGAAAATGAGGAAAATTTTTACAAGGCTCTATTTAGACAAAGTTCTTATTCTGACATTACATCTTTCCTACTTTGGAGCTGTTGAATGTATTATCTTTTATGAAAAGAAGGCGATCCAGGTTGAGCATCCCTAACCCAAATATGTGAGTCTGAAATGCTCCAAAACCTAAAACTTCTTGAGCACAAACATGATAGTCAAAGGTCATGCTTAAAGGAAATGCTGTCATTGGAGCAGTTTGGATTTTGGGTTTTCAGATTAGGGATGCTGAACCAGTAAGTATAATGCAAACATTCCAAAATATTTTTGAAAATCCCAAATCCAAAACACTTCTGATCCCAAGTATTTCAAATAAGGGATACTCAACCTGTAATATATTTCTTCATTTCTTTATTTATTTTATTATTATTTTAAGATGGCTCATGGCCCACTGCAGCCTCAAACTCCTAGGCTCAAGTGATCTTCCGACCTCAACCTCCCAGGTAGCTCAGGTAGCTGGGACTGCAGGCATGCATCACCATGCCTGGCTAATTTTTTAAAAAATTTTTTGTGGAGGCAGAGTCTCACCTTGCTGCCCAGGCCAGTCTCAAACTCCTGGCTTCAAGCAGTACTCCTGCCTCAGCCTCCCAAAGTATTAGGATTACAGGTGTGACCACTATGCCTGGCCCATATTTCTTCATTTAGTTTTTTCTTTGCCTGCTGTGTTTTTAATGTTCTTTCTTGTTCAAACAAAAAGTTGGCTATTCCTTGCTGTTAGTTAAATTTGCCAATCTATGAAACTGAAAAATGCAGGAGTCCCAGCCTGGTGTTAAATACAAAGAAATCCCAGGTAAATGGCATGCACCCAGTTCCTGCTTGCCCAAGTCCTTGGTGAGGCTTCTGTGGGGTCTCAGTGTTCTGCTCCTCACTCAGTGACCCCTTGTTCTTCAGGAGGACCTGGATTTGGATCACAGTTCTTTACCACGTCCCATGAGCAGCCGAAGTTTCCCTCGAAGCCTGGATGACTCTGAGGAGGATGACGATGAAGATAGCGGACATAGCTCCAGAAGGAGGGGAAGCATTTCTAGTGGCGTTTCTTACGAAGAGTTTCAAGTGTAAGTATAAAGGAATTGGCAGAATTTGCGTTGACAAGAGTCCACATGAGACCAGGCAGTTCCCTCATCTCTCTGAATTCACTCCTTTCCATTACTAATCATCCAGCTTTTAAAAATAACTTATACTGGCCAGACGCAGTGGCTCATGCCTGTAATCCCACCACTTTGGGAGGCCAAAGCAGGCAGGTCATGAGGTCAGAAGTTCGAGACGAGCCTGGCCAACATAGTGAAACCCCATCTCTATTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTACAGAGAGCCGAGATGGCTCCACTGCACACCAGCCTGGGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAACTTGTCAATTGGTGTTTTGTTTCTTACATAATATGTTTACTATAAAAATTAGCAAATAAGAGCAAAAGAAAACATTAACATTTCACATATTTCTACCAATGAAAAATGTTTATTAATATATCAGTGTTTGTGTCTCTATTTGCATGTGTTTATCAATGTTTCTATATATTTTTATGGCCTAACATATGGTTCGTCCTGAAGAATGTTCCTTGTGCATTTGAGAAGAATGAATATTCTGCTGTTCAAGTGTTCTGTAGATGTTTGTTAGGTCTAGTTTGTTTACAGTTTTATTCAGGTCTCCCATTTCCTGGTTGATCT	A	G88063771A	PKD2	NM_000297.4(PKD2):c.2119-1603_2522+740del	noncoding	Pathogenic
4	88065378	AC	A	C88065380A	PKD2	NM_000297.4(PKD2):c.2125del:p.His709fs	coding	Pathogenic
4	88065593	C	CT	C88065609T	PKD2	NM_000297.4(PKD2):c.2240+113dup	noncoding	Benign
4	88065593	CT	C	T88065608C	PKD2	NM_000297.4(PKD2):c.2240+113del	noncoding	Benign
4	88068053	GT	G	T88068056C	PKD2	NM_000297.4(PKD2):c.2517del:p.Gln840fs	coding	Pathogenic
4	88074872	CG	C	G88074873C	PKD2	NM_000297.4(PKD2):c.2584del:p.Ala862fs	coding	Pathogenic
4	88277249	TG	T	G88277253A	PPM1K	NM_152542.5(PPM1K):c.441-7del	noncoding	Benign
4	88278165	GTA	G	A88278167G	PPM1K	NM_152542.5(PPM1K):c.417_418del:p.Thr140fs	coding	Pathogenic
4	88521942	C	CTG	G88521947T	PYURF	NM_032906.5(PYURF):c.289_290dup:p.Gln97fs	coding	Pathogenic
4	89822166	T	TC	T89822169C	SNCA	NM_000345.4(SNCA):c.306+78dup	noncoding	Benign
4	89828312	G	GAAAAA	T89828320A	SNCA	NM_000345.4(SNCA):c.122-135_122-131dup	noncoding	Benign
4	89828356	CAG	C	A89828357T	SNCA	NM_000345.4(SNCA):c.122-174_122-173del	noncoding	Benign
4	92590532	AG	A	G92590533C	GRID2	NM_001510.4(GRID2):c.244+247del	noncoding	Benign
4	95051944	GCTTT	G	T95051947A	BMPR1B	NM_001203.3(BMPR1B):c.-17-52461_-17-52458del	noncoding	Benign
4	95114645	GACACAC	G	A95114664T	BMPR1B	NM_001203.3(BMPR1B):c.144-74AC[9]	noncoding	Benign
4	95114645	G	GAC	T95114670A	BMPR1B	NM_001203.3(BMPR1B):c.144-74AC[13]	noncoding	Benign
4	95152602	AAAT	A	A95152622G	BMPR1B	NM_001203.3(BMPR1B):c.1253-40AAT[6]	noncoding	Benign
4	99072706	TC	T	C99072708A	ADH5	NM_000671.4(ADH5):c.966del:p.Gly321_Trp322insTer	coding	Pathogenic
4	99557432	A	AT	A99557438T	TRMT10A	NM_001134665.3(TRMT10A):c.349-17dup	noncoding	Benign
4	99559315	T	TG	C99559317G	TRMT10A	NM_001134665.3(TRMT10A):c.23dup:p.Phe9fs	coding	Pathogenic
4	99575104	CTT	C	T99575106G	MTTP	NM_001386140.1(MTTP):c.61+136_61+137del	noncoding	Benign
4	99581983	GC	G	C99581984A	MTTP	NM_001386140.1(MTTP):c.141del:p.Gly49fs	coding	Pathogenic
4	99583412	AG	A	G99583414A	MTTP	NM_001386140.1(MTTP):c.290del:p.Gly97fs	coding	Pathogenic
4	99583482	CA	C	A99583485G	MTTP	NM_001386140.1(MTTP):c.361del:p.Arg121fs	coding	Pathogenic
4	99583495	TC	T	C99583497T	MTTP	NM_001386140.1(MTTP):c.373del:p.Leu125fs	coding	Pathogenic
4	99589664	C	CA	T99589669A	MTTP	NM_001386140.1(MTTP):c.419dup:p.Asn140fs	coding	Pathogenic
4	99591671	AG	A	G99591672C	MTTP	NM_001386140.1(MTTP):c.640del:p.Ala214fs	coding	Pathogenic
4	99591870	TTGTG	T	T99591885C	MTTP	NM_001386140.1(MTTP):c.758+81TG[7]	noncoding	Benign
4	99597143	TC	T	C99597145T	MTTP	NM_001386140.1(MTTP):c.988del:p.Leu330fs	coding	Pathogenic
4	99597179	A	AAGAAG	T99597188A	MTTP	NM_001386140.1(MTTP):c.1026_1030dup:p.Ile344fs	coding	Pathogenic
4	99600447	TA	T	A99600457T	MTTP	NM_001386140.1(MTTP):c.1068-108del	noncoding	Benign
4	99600553	C	CT	A99600561T	MTTP	NM_001386140.1(MTTP):c.1068-5dup	noncoding	Benign
4	99601385	GAATTCCCTGTACCACAGGTTAAAAATCCCTGAAAAGGGGATTAACTCTTCAATTCAAAGCTAGATAGCAAATGTGTAAGTGTCTCA	G	T99601388A	MTTP	NM_001386140.1(MTTP):c.1237-219_1237-134del	noncoding	Benign
4	99606754	GTGGA	G	T99606755A	MTTP	NM_001386140.1(MTTP):c.1352_1355del:p.Val451fs	coding	Pathogenic
4	99606798	G	GA	G99606805A	MTTP	NM_001386140.1(MTTP):c.1401dup:p.Glu468fs	coding	Pathogenic
4	99606997	GA	G	A99607008G	MTTP	NM_001386140.1(MTTP):c.1557+48del	noncoding	Benign
4	99606997	G	GAA	G99607009A	MTTP	NM_001386140.1(MTTP):c.1557+47_1557+48dup	noncoding	Benign
4	99606997	G	GA	G99607009A	MTTP	NM_001386140.1(MTTP):c.1557+48dup	noncoding	Benign
4	99607143	CCTATAT	C	T99607151C	MTTP	NM_001386140.1(MTTP):c.1557+191_1557+196del	noncoding	Benign
4	99608821	CTG	C	T99608824C	MTTP	NM_001386140.1(MTTP):c.1616_1617del:p.Val539fs	coding	Pathogenic
4	99608842	C	CTA	C99608846A	MTTP	NM_001386140.1(MTTP):c.1636_1637dup:p.Ile547fs	coding	Pathogenic
4	99608891	GCTGT	G	G99608894A	MTTP	NM_001386140.1(MTTP):c.1686_1689del:p.Ser563fs	coding	Pathogenic
4	99611065	AT	A	T99611075C	MTTP	NM_001386140.1(MTTP):c.1770-68del	noncoding	Benign
4	99611412	AT	A	T99611413C	MTTP	NM_001386140.1(MTTP):c.1949del:p.Ile650fs	coding	Pathogenic
4	99611413	T	TA	C99611414A	MTTP	NM_001386140.1(MTTP):c.1949_1950insA:p.Phe651fs	coding	Pathogenic
4	99612952	GC	G	C99612954A	MTTP	NM_001386140.1(MTTP):c.2031del:p.Thr678fs	coding	Pathogenic
4	99613047	C	CG	A99613050G	MTTP	NM_001386140.1(MTTP):c.2126dup:p.Tyr710fs	coding	Pathogenic
4	99613133	AT	A	T99613135C	MTTP	NM_001386140.1(MTTP):c.2212del:p.Ser738fs	coding	Pathogenic/Likely_pathogenic
4	99619012	G	GCCAATATA	G99619013C	MTTP	NM_001386140.1(MTTP):c.2256_2257insCCAATATA:p.Val753delinsProIleTer	coding	Pathogenic
4	99621066	C	CT	G99621068T	MTTP	NM_001386140.1(MTTP):c.2349dup:p.Val784fs	coding	Pathogenic
4	99621415	CA	C	A99621424T	MTTP	NM_001386140.1(MTTP):c.2513+193del	noncoding	Benign
4	101025820	CAAA	C	A101025847G	PPP3CA	NM_000944.5(PPP3CA):c.*42_*44del	noncoding	Benign
4	101025820	CAA	C	A101025848G	PPP3CA	NM_000944.5(PPP3CA):c.*43_*44del	noncoding	Benign
4	101025820	CA	C	A101025849G	PPP3CA	NM_000944.5(PPP3CA):c.*44del	noncoding	Benign
4	101029353	AAAAAAAAAAAAAAAAAAAAG	A	A101029362T	PPP3CA	NM_000944.5(PPP3CA):c.1340-178_1340-159del	noncoding	Benign
4	101032251	C	CCAT	G101032257T	PPP3CA	NM_000944.5(PPP3CA):c.1339+13_1339+15dup	noncoding	Benign
4	101032306	T	TG	A101032311G	PPP3CA	NM_000944.5(PPP3CA):c.1299dup:p.Ser434fs	coding	Pathogenic
4	101032317	C	CG	C101032318G	PPP3CA	NM_000944.5(PPP3CA):c.1288_1289insC:p.Gly430fs	coding	Pathogenic
4	101032322	T	TG	T101032327G	PPP3CA	NM_000944.5(PPP3CA):c.1283dup:p.Thr429fs	coding	Pathogenic/Likely_pathogenic
4	101032351	TCTCA	T	A101032355T	PPP3CA	NM_000944.5(PPP3CA):c.1251_1254del:p.Ser417fs	coding	Pathogenic
4	101032353	TCA	T	A101032355T	PPP3CA	NM_000944.5(PPP3CA):c.1251_1252del:p.Ser417fs	coding	Pathogenic
4	101040668	AT	A	T101040680C	PPP3CA	NM_000944.5(PPP3CA):c.1157-103del	noncoding	Benign
4	101346660	GAGGAA	G	A101346664C	PPP3CA	NM_000944.5(PPP3CA):c.58+74_58+78del	noncoding	Benign
4	101346877	A	ACGCCGC	G101346905C	PPP3CA	NM_000944.5(PPP3CA):c.-108GCG[11]	noncoding	Benign
4	101346877	A	ACGC	G101346905C	PPP3CA	NM_000944.5(PPP3CA):c.-108GCG[10]	noncoding	Benign
4	102253159	C	CG	C102253164G	SLC39A8	NM_001135147.1(SLC39A8):c.*262dup	noncoding	Benign
4	102267259	AC	A	C102267261T	SLC39A8	NM_001135146.2(SLC39A8):c.1233+230del	noncoding	Benign
4	102267676	TAGA	T	G102267690A	SLC39A8	NM_001135146.2(SLC39A8):c.1049-17TCT[4]	noncoding	Benign
4	102267708	G	GTT	A102267719T	SLC39A8	NM_001135146.2(SLC39A8):c.1049-44_1049-43dup	noncoding	Benign
4	102304784	C	CA	T102304790A	SLC39A8	NM_001135146.2(SLC39A8):c.675+200dup	noncoding	Benign
4	102315846	CA	C	A102315856T	SLC39A8	NM_001135146.2(SLC39A8):c.220-17del	noncoding	Benign
4	102315846	C	CA	T102315857A	SLC39A8	NM_001135146.2(SLC39A8):c.220-26dup	noncoding	Benign
4	102316025	G	GA	T102316037A	SLC39A8	NM_001135146.2(SLC39A8):c.220-206dup	noncoding	Benign
4	102344444	C	CT	G102344446T	SLC39A8	NM_001135146.2(SLC39A8):c.218dup:p.Cys74fs	coding	Pathogenic
4	102533862	CA	C	A102533865T	NFKB1	NM_003998.4(NFKB1):c.139del:p.Ile47fs	coding	Pathogenic
4	102537906	C	CA	T102537907A	NFKB1	NM_003998.4(NFKB1):c.208_209insA:p.Leu70fs	coding	Pathogenic
4	102567082	CTG	C	T102567085A	NFKB1	NM_003998.4(NFKB1):c.357_358del:p.Cys119_Glu120delinsTer	coding	Pathogenic
4	102576883	AACCTGGGTAT	A	C102576886T	NFKB1	NM_003998.4(NFKB1):c.418_427del:p.Leu140fs	coding	Pathogenic
4	102576963	C	CTA	A102576968T	NFKB1	NM_003998.4(NFKB1):c.498_499dup:p.Asn167fs	coding	Pathogenic
4	102577020	A	AG	A102577025G	NFKB1	NM_003998.4(NFKB1):c.556dup:p.Asp186fs	coding	Pathogenic
4	102582906	TGGAG	T	G102582907T	NFKB1	NM_003998.4(NFKB1):c.877_880del:p.Gly293fs	coding	Pathogenic
4	102582924	TG	T	G102582926A	NFKB1	NM_003998.4(NFKB1):c.896del:p.Gly299fs	coding	Pathogenic
4	102584765	AT	A	T102584766C	NFKB1	NM_003998.4(NFKB1):c.1012del:p.Ser338fs	coding	Pathogenic
4	102584792	A	AC	T102584795C	NFKB1	NM_003998.4(NFKB1):c.1040dup:p.Leu349fs	coding	Pathogenic
4	102593467	AT	A	T102593472C	NFKB1	NM_003998.4(NFKB1):c.1114del:p.Ser372fs	coding	Pathogenic
4	102593543	AG	A	G102593548C	NFKB1	NM_003998.4(NFKB1):c.1190del:p.Gly397fs	coding	Pathogenic
4	102596192	AC	A	C102596193A	NFKB1	NM_003998.4(NFKB1):c.1356del:p.Asp452fs	coding	Pathogenic
4	102597639	GT	G	T102597640G	NFKB1	NM_003998.4(NFKB1):c.1616del:p.Val539fs	coding	Pathogenic
4	102601341	TAAAA	T	A102601345G	NFKB1	NM_003998.4(NFKB1):c.1752+336_1752+339del	noncoding	Benign
4	102606520	ACTAAG	A	T102606522A	NFKB1	NM_003998.4(NFKB1):c.1779_1783del:p.Lys594fs	coding	Pathogenic
4	102606593	ACT	A	C102606596G	NFKB1	NM_003998.4(NFKB1):c.1853_1854del:p.Ser618fs	coding	Pathogenic
4	102612593	TG	T	G102612595A	NFKB1	NM_003998.4(NFKB1):c.2581del:p.Asp861fs	coding	Pathogenic
4	102613430	T	TG	T102613436G	NFKB1	NM_003998.4(NFKB1):c.2603dup:p.Thr869fs	coding	Pathogenic
4	102613583	T	TAA	G102613593A	NFKB1	NM_003998.4(NFKB1):c.2749+10_2749+11dup	noncoding	Benign
4	102613583	T	TA	G102613593A	NFKB1	NM_003998.4(NFKB1):c.2749+11dup	noncoding	Benign
4	102613595	CA	C	A102613599G	NFKB1	NM_003998.4(NFKB1):c.2749+18del	noncoding	Benign
4	102632290	GAA	G	A102632300T	MANBA	NM_005908.4(MANBA):c.2416-11_2416-10del	noncoding	Benign
4	102632290	G	GA	T102632302A	MANBA	NM_005908.4(MANBA):c.2416-20dup	noncoding	Benign
4	102634488	TG	T	G102634491C	MANBA	NM_005908.4(MANBA):c.2415+299del	noncoding	Benign
4	102664668	TA	T	A102664673T	MANBA	NM_005908.4(MANBA):c.1485+16del	noncoding	Benign
4	102664716	TAG	T	A102664719T	MANBA	NM_005908.4(MANBA):c.1452_1453del:p.Tyr485fs	coding	Pathogenic/Likely_pathogenic
4	102664735	TG	T	G102664736A	MANBA	NM_005908.4(MANBA):c.1434del:p.Lys479fs	coding	Pathogenic
4	102671116	G	GCT	A102671117C	MANBA	NM_005908.4(MANBA):c.1230+164_1230+165insAG	noncoding	Benign
4	102671473	A	ATC	G102671477C	MANBA	NM_005908.4(MANBA):c.1113-77_1113-76dup	noncoding	Benign
4	102689348	CAAA	C	A102689358T	MANBA	NM_005908.4(MANBA):c.960+223_960+225del	noncoding	Benign
4	102689348	CA	C	A102689360T	MANBA	NM_005908.4(MANBA):c.960+225del	noncoding	Benign
4	102689359	A	AT	A102689360T	MANBA	NM_005908.4(MANBA):c.960+214_960+215insA	noncoding	Benign
4	102689360	AT	A	T102689361A	MANBA	NM_005908.4(MANBA):c.960+213del	noncoding	Benign
4	102689378	ATG	A	G102689388A	MANBA	NM_005908.4(MANBA):c.960+186CA[4]	noncoding	Benign
4	102689378	ATGTG	A	G102689386A	MANBA	NM_005908.4(MANBA):c.960+186CA[3]	noncoding	Benign
4	102690794	AAT	A	T102690812A	MANBA	NM_005908.4(MANBA):c.674-41AT[8]	noncoding	Benign
4	102690794	AATATAT	A	T102690808A	MANBA	NM_005908.4(MANBA):c.674-41AT[6]	noncoding	Benign
4	102723829	AT	A	T102723837A	MANBA	NM_005908.4(MANBA):c.378+32del	noncoding	Benign
4	102726466	C	CAAACA	T102726487A	MANBA	NM_005908.4(MANBA):c.272+103TGTTT[5]	noncoding	Benign
4	103108588	CTAAA	C	T103108589G	CENPE	NM_001813.3(CENPE):c.8011+211_8011+214del	noncoding	Benign
4	103116251	T	TACACACACACACAC	T103116278A	CENPE	NM_001813.3(CENPE):c.7442+300GT[20]	noncoding	Benign
4	103116251	T	TACACACACAC	T103116278A	CENPE	NM_001813.3(CENPE):c.7442+300GT[18]	noncoding	Benign
4	103116251	T	TACACACAC	T103116278A	CENPE	NM_001813.3(CENPE):c.7442+300GT[17]	noncoding	Benign
4	103116251	T	TAC	T103116278A	CENPE	NM_001813.3(CENPE):c.7442+300GT[14]	noncoding	Benign
4	103140688	CTTA	C	A103140694G	CENPE	NM_001813.3(CENPE):c.5754+123_5754+125del	noncoding	Benign
4	103143605	AC	A	C103143608T	CENPE	NM_001813.3(CENPE):c.5146-200del	noncoding	Benign
4	103147698	A	AT	G103147712T	CENPE	NM_001813.3(CENPE):c.3844-65dup	noncoding	Benign
4	103147698	AT	A	T103147711G	CENPE	NM_001813.3(CENPE):c.3844-53del	noncoding	Benign
4	103163771	TAAAA	T	A103163777C	CENPE	NM_001813.3(CENPE):c.1648-222_1648-219del	noncoding	Benign
4	103177299	TTCAGGGACCCATC	T	A103177302C	CENPE	NM_001813.3(CENPE):c.1243-266_1243-254del	noncoding	Benign
4	103183029	T	TACTA	A103183035C	CENPE	NM_001813.3(CENPE):c.834-142_834-139dup	noncoding	Benign
4	103196255	A	AAAC	C103196281A	CENPE	NM_001813.3(CENPE):c.149-27GTT[9]	noncoding	Benign
4	103719305	AG	A	G103719307A	TACR3	NM_001059.3(TACR3):c.370del:p.Leu124_Val125insTer	coding	Pathogenic
4	105233833	TATAGATAG	T	T105233851A	TET2	NM_001127208.3(TET2):c.-46-63ATAG[4]	noncoding	Benign
4	105235968	CTGTG	C	T105235971G	TET2	NM_001127208.3(TET2):c.2029_2032del:p.Cys677fs	coding	Pathogenic
4	105276838	T	TCC	G105276850C	TET2	NM_001127208.3(TET2):c.*329_*330dup	noncoding	Benign
4	105369672	A	ACTTGGGGAAAAAGAGT	A105369678G	PPA2	NM_176869.3(PPA2):c.*52_*53insACTCTTTTTCCCCAAG	noncoding	Benign
4	105370521	GT	G	T105370530A	PPA2	NM_176869.3(PPA2):c.976+315del	noncoding	Benign
4	105370590	GA	G	A105370599G	PPA2	NM_176869.3(PPA2):c.976+246del	noncoding	Benign
4	105371065	T	TA	G105371067A	PPA2	NM_176869.3(PPA2):c.940-193dup	noncoding	Benign
4	105396213	T	TAATAA	T105396215A	PPA2	NM_176869.3(PPA2):c.869+35_869+36insTTTAT	noncoding	Benign
4	105396213	T	TATAAA	C105396218A	PPA2	NM_176869.3(PPA2):c.869+35_869+36insTTATT	noncoding	Benign
4	105396341	CCAAA	C	C105396350T	PPA2	NM_176869.3(PPA2):c.784-19TTTG[2]	noncoding	Benign
4	105424486	TTTAGAG	T	G105424490A	PPA2	NM_176869.3(PPA2):c.529-170_529-165del	noncoding	Benign
4	105438042	AT	A	T105438052A	PPA2	NM_176869.3(PPA2):c.442-7del	noncoding	Benign
4	105446123	GA	G	A105446134T	PPA2	NM_176869.3(PPA2):c.441+259del	noncoding	Benign
4	105449417	CA	C	A105449421C	PPA2	NM_176869.3(PPA2):c.268-15del	noncoding	Benign
4	105453420	A	AC	T105453421C	PPA2	NM_176869.3(PPA2):c.267+177_267+178insG	noncoding	Benign
4	106046684	G	GA	G106046694A	TBCK	NM_001163435.3(TBCK):c.2572-5dup	noncoding	Benign
4	106095795	GA	G	A106095805G	TBCK	NM_001163435.3(TBCK):c.2412-155del	noncoding	Benign
4	106116381	GA	G	A106116391T	TBCK	NM_001163435.3(TBCK):c.2236-4del	noncoding	Benign
4	106116381	G	GA	T106116392A	TBCK	NM_001163435.3(TBCK):c.2236-4dup	noncoding	Benign
4	106116396	CA	C	A106116405T	TBCK	NM_001163435.3(TBCK):c.2236-19del	noncoding	Benign
4	106116396	C	CA	T106116406A	TBCK	NM_001163435.3(TBCK):c.2236-27dup	noncoding	Benign
4	106170667	CTGTGTTTAGTAAGAATGATAATGTTGAAACACCTACATGGCATAGTTTTACAAATGCTGTTTCTTCTGTCAACCAACAATAAGTTCCTGCTCTATTAACAACTCTTTTTCTATTTTTTTAATTCTTTCTTTGCTTCTGTAATCTCTCACTATATAACCAATTGATATATAAACAGATACTACAAATGCATACAAAAAAAGCAAAACTTGCTACCTGGAGGAGTACGTCAAAATAATCTTCCTAACTCTATAACCAAATAGATATAATGGTTTTCTGGAATATTTCTATGAATCAAATCATGTGTTAGAAAATATCTACATTAAAAGGACATAAATGACACCATTAAGAACAATAAAGATACTAGGGTATATTAATTTTAACATCCATCTCCTTTTAGAGTTTGTAAACTAAATCCGCAAATACATACCAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTCTAGATAGAAATGTTTTAAAAAAGCAAATGTATAGAATTTAGATTGCTCTTTTAATGTAATAAACACCATCTCTCCTAAGTGAATATATCTAAATATGGCTAAGATGATAAGTTATTAGAAAAAATGTCAGTAAAAAAAACAATGTATATATTAATCAGCATATTTATGACTGGATTGATGGAAATATTTGGTATAATTTGCTTATATATATTTGTAAATGTATCTACTTATGTTTTCATGTGTGTCTTTTACTTGGAATTATCTACATATACATATGTATATATTTCAGAGTATCATTATTTAAATGCCACAGAATAGAACACATCTCCTTATTTAAAAATCTGCCAAATTTATGCTGATGTTTCCACTTTTCCAATGTGAAACAAAAGTTATAGGGGGAGAATACAATTTGGGAATAGGTAGACAAAAGATTTAGAAGATGTTGATTGCTGATTCAGAATGAATTCTAGTAAAGTGAACTGACAGTTTTACTGCCATTAAATAAGATATAAAATTATCAGAAAAAATTTTTCAGAATCTCAATTCAGCATTTCTCAATTTTTTTTTTCCTGTTTTTGAGATAGAGTCTTGTTCTGTCTCCTAGGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACCTTGGCCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTTCCTAGAAGCTGGGATTACAGGCCTATGCCACAACACCCGGCTAATTTTTTGTATTTTTAGTAGACATGGGGTTTCGCCATGTTGCCCAGGCTGTTCTTGAATTCCTGACCTCAGGCAATCCACCTGCCTCGGCCTCCCAAAATTCTAGGGTTACAGGGATCATCCACCATGCCCAACTAGCATTTCTCCATTCTTTAATAATCTCTTGAGTTAAATGAAGAAAGGTTTTAAAGTTTAATCAAGTAAGGTTTAAATGCACTTGACTAAAAGATAAAATAGAAACACTTTCATATTAGATTTCCTTTTGTTTCTCATGTTTGAAATGTAAGCATCTTTAATGCAGAGGTAATATACATAGAAAGGTTACTACAACTCTATATTGTTTGTGTTTTGGATGAGACTGTATCTCTTTAGGAGGCCAACAGTCCTGATGAGAAGTTAGCCAGTCCTCTATGGCGAAAGTAGAAAGATCACAGAAAGGCGGAGAAATTCAAGAAGTTGACTGTGATGGAGTTTAGCACTGACTAGTTTTTATCTTTCCATATTTCTAAAAGTACAAATGGCATATATTCTCATTTCCTCTGTAAAAGTCCAAGTGTCGGGCTCAGGCAGGCAATGGAGAAAAATATATTACATGTCAGAAAGTGGTAAGTTCTTTTTTTCTCCCCCTCTTTTTGAAATGAAGGGCTTGTAAGGGGAAAAGGAAATAGGCATTAAGTAAATTCTGTGGATAGTGCATGAGTAATCATTTAGAGTTATCTGCTGTGGTAAGGTGAAGAAATCTGGAAGAGGGAAAAAGAAGGTAACACTGACCATCTATTATGTGACAGGTATTGTATACTTTCACTTAATCCATTTAATTCTTACAATGATTTTATTAAAGACAGGTATCGTAATTCTTCTTCCCACCTTCTATTTCTGCTAAAGACAAAGAAACTAAGACACAAGGAAGTTAAGTGATTTGTTAAGTATGTTACTATGAGTAGAAGTCTGAAGTTACTATAAGGTTATAAGGCATCTTTTGTTACTTCCTAACTTAGATTTGGAATATGAAAAGATAGTCTGATAAGACCAGTTACTCAATTAGGCATTCCTTAGTGATGTTTACCAACTTCACAGCTCATTACTTCCATGGCTACAAAAAGAGGTCAGATTTCATCACCTCATATGCTATTCCTAATATAAAAACTATAAAACAGAGTGAAACAAGCTTTGAGGCATGGGCCTATTTATTTGGGCAATGGATAATATAGTGAAGCTCTCTAACAATATCAACTTGTTATTTCACAAAGAAAATACAAACACAAACTAGAAGAAAAATCAAGGTTTAAGACAGGTTTCTCTAGCCTGTTTAAGAAAAAAGAGATAGCACAATTCATTTTAGAAAACTTTCAATTCAAATAGTTAAGATAAAAATTTGGCAGCTAATGAGAGAAAATACTCAACCATCTAAAGTCTGTCTACTTAACACAGTTTAGTTTCCAAAGGAAAGGGTTTCAGTCCATAGATTTTGTATTTGCAGGGCTCAAATCAATTTGACACATCTGTCACCAGCAAAGTTTGAAGGTGAGTCAGTGATCTAGAGTAAAGGTTGTAGTGCAGTCCTTCAATCACTGGCATTGGAAAAGTTATTTTTATCTGCTTCCAAGACATCCCATCAACACCATAAAAGGTTTACAGTGAATCTTGATGATGTACTGGCATCCATCCCGATTCTACCCTGATGGTTAGTTCTAACAGATATCTCATTTTCCATTTCACTTGACTCATGTCACCTCTCATCTCAAAACCCTTCCAAAGCACATTATCATAATCAAAATATAATGCAAAAGTACTTTGTGAAGTGTACATTAAAATGCACAATTACTCCTACAAAGTAATCTCTCATTACATGGCACTACTGTTTTTTAACCTTGCATTATAATTATTGAGACAATGCATTGTGAATAAAACATGGATTATGGTTTCCCAGGTTTGAATTAAAGCTCCATGAGGTATTTTGCAACTCTGGGTAAAATAACTTCTCTAAATCTATTAATTTCTTCATTGGCACCCATTAGTATTAGATCTTTCAGAAATACTGAACTATTTTCAATATGATAAACACAACCATTTGGGCAAGGATAGATGGAAAAGACAGCTTTCCTGAGCCTGCTCTTCTCTCACTTTAATGGCTATAAATTCCTTCTGAAATTTATTGCATAGCTATTGTCCTGGAACTTCTCTTTACCATTATCCAATTCTCTTAGGCTATCCCCTATATTTGATTCCTAACTTTTTGGGTAAGACATTATTTACCACTCTTTCATATTTACTTCTCATTTTGATGAAACACATTATCCAGCAGCTACAAAGAAAGAGTACACAGGAGGTAAACTATTCAAAAACCTTCAATGAATATCATTAATCTGCCCTTGACTGATAGTTTGACCAGATACAGCATTCTAGGGTTGAATTTTTTTCTTCTGAGTTATTAAAGGTAGAGCTCCAATGTCTGCTGCTGAGAAGTCTGATAAAATTCTGATTTAGGATTATTTGTACATGATTTTCTGTTTCTCTGTTAAGTTTTAGGATCCCTGTATTATGAAATTTCATGGTGATATACTTACGCATATACTTCATTGTGCTGGGCATTTGGTGGATCCCTGAGTAGTCCTTCAGTTACACAAAAAGTATGTTTTTGATGTTTGTGATAATTTGTTTCTTTTTAAATCTTCTATTCTATAAGAATCTTGAACTTCCTGAATTTAATTTCTAATAATTTTGTCATTTTGTTCTTACTTTCCACGTGTATTTTTGTTTCATACTCTGTGAGATTTCCTAAATTTTATCATCTTACATTTTCATCACAAACATCATTGCATTTCTATATCAATTTCAATTTCCAGGCCAGGCACGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGTAGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAACAAAAATACAAAAATTAGCCAAATGTGGTGGAGTGCACCTGTAACCCCAGCTACTTAGGAGGCTGAGACACGAGAATTGCTTGAACCTGGGAGGTGAAGGCTGCAGTGAGCAGTGATCACGCCTGTATCACGCTTGTACTCCAGCCTGGCTACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAGAAAAAAAAATCAATTTCCAGATTTTCAACAATTTTCATTGTTATGTTTAAAAGTTCTGTTTTTTCATAGTTAATTTTCTCATAGTTATCTTTCTGAATAAATTATTTTTTCAGTTTATACTATTCTGTATCTTAATTGGAAGCTTTCCTCAGAGATTTTGTGATCTTTGATTCTACATATTTACAAGAACAGCACCAAAAATCAGATTGAATTTTTTTTTTTTTTTTTTTATGTGGGCTGGGGTTAGTGACTGGTGGATTAACTATAAGGTAATTTGGGGACATGGTTATTTTGTTAGAAGACTCCTAAGTAAGATATTTCTCCTTCTGGGAACATTGAGTTTTTCCAGATAATTCTCTGATCTTCTAAGCTCATCCTTGCCAGCCTTCCCAGATATGACCATAGGAGGGGCCTGTATAACTATATACATTCACTCACTCCTGCTCTCTGCTATGCCTATTGGCTCTGAGTCTCAAGACTCAGTGACTCTACTACTCCAGAGAATGCCTCTCCATATTTACCATTAAAATGGTCACTTTTGTAAAATTTGACAAAGTAAAAATATTTCAACCACAACAATGAAGAATGCTGCCTCTTTCTACACCAAATTCTCTCCATTATACTTCCTTGATATTGGGCAACATTACAATGGCTGTGCATGCTCTACATATAACTAAGAGTAAGCTGAACATATTTACTTTGGTTTAATAGGTCATATTTTTGTTATCTGAAGTAACTTCTGGGTATTGACAAAGATGCTCTCCTTAACCAAAGTCTAGCCAGGCTCCTTAGAGCCCTTTTTTGACTAGGGTCCAAACTTTGCCTATAAAGACTTGAACAAAACATGAAGATGGCTTGGTTTTTCTACTTTACTGTTATTTTTAAATTAATACATAAAATTGTACATAGTTTATGTATTAATTAAATATGGAATACATGTGATATTTTGCTATATGCATACAATGTGTAATGATCAAAACAGGGTAATCAGAACATCTACCAATTCGAATATTTATTTTCTTATGTTGGGAACATTTTAAATCTAGCTATTTTGAAATATATAACAAATTATTGTTAACTATAGTCATCCTACTGTGCTGTCTATTGAACAACAGAGCTTATTCCTTCGGTCTAACTGTATTTTGTATCCATTAACCAACCTCTCTCTTCATCCCCATCCCCCAGCCCATTCTTCTTAGCCTCTAGCAACTATCAATCTACTCTCAACCTCAACTTATTTAGTTTCCCAAGTATGAGTTAGAATATGTGATACTGTGAATATGACATAGTCTTTCTGTGCCTGGCTTATTTCACTTAATGTGATGACCTCCAATTACATCCATGTTGTTGCAAATGACAGGATTTCATTGCCTTTTATCGCTGAATGGTAATTCATTGTGTTTTTATGTACGTTTTCTTTATTCATTCATTCATTGATAGACACTTAAGTTGATTCTGTATGTTGGCTATTGTGAATAGTGCTGCAATAAACATGAGAGTGCAGACATCTCTGCGATATCCTGATTTCCTTTCTTTTGGACATATATCCAGCAGTGGGAATGCTGGATCTTATGGTGCTTCTATTTCTACTTTTTTGAGGAACCTCCATACTGTTTTTCATAGTAGCTATACTAATTTACATTCCCACTAACAGTGTACTAACATCCCACTTTCTGCACCATCTATTATTTTTCTCTTCTTCGTAATAGCCTTTTAAACTTGGATAAAATTTCATTGGGGTTTTGATTTGCATTTCTCTGATAATTAGTGATATTGAGTACTTTTTCATATACTTGTTGGCCATTTTTAAGTGTTTTTTTTTTTTTTAAATACAGGGTCTCACTAAGTTACCCAGGTTAGAGTGTAATGACTACAGACATGATCATAGACTATGACCTACGACAAGCCTGAAACTTCTGGGCTCAAGTGATCTTATATCACAGCATCCTGAATACTTGGGACTACAAGTATACACCATCACATCTGTCTCTATGTCTCCTTTTCAGAAATGTCTATTCAGATCATCTACCCGTTTTTTAAATAGGATTGTTTTTTGGCTATTCATTTGAGTTCTTTATGTACTCTGGCTACTAATCCTTTGTTGGTTGAAGAGTTTGCACATTTCCTCCCATTCTGTAGGTTGTTTCTTCACTCTGTTGATTGTTTCCTTTGCTGTGAAGAATTTTAGCTTGATGTAATTCTATTTGTCTACTTTGGCTTTGGTTGCCTGTGTTTTTGTGGTCTGACCTCAAAAATCCTTGCCTAGTAGATCAATGTTGTGAGACATTTCCACAACGTGGTCTAGTAGTTTCATGTCTTACATTTAAGTCTTTAATAAAGTTTGATTTAATTTTTGCATATGGTGAGAGACAGGGGTCTAGTTTCATTAGTCTGCATATGGAGATACAGTTTTCCCAGCACCATTTATTAAAAAAAACCTGTCTTTTCCCCAATGTATATTGTTGGCACCTGTGTCAAAAGTAAGTTGGCTGTAAATGTGTGAATTTATTTCTGAGTTATCTATTCCATTTCATTGGTCTATGTGCAGGTTTTTATGTCAGTACAATGCTGTTTTGGTTACTACAGCTCTGTAGTATATTTGGGAATTAGTGTGAGGCCTCTAGTTTTCTTCCCTTTACTCAAGATTGCTTTTGCTACTTGGGGTCTTCTGTGGTTCCATAAAAATTTTAGGATTATTTTTTCGAATTCTGTTAAGAGTGTCATTGGTATTTTGATAGAAATTACATTGAACCTGTAGATCACTTTGGGTAGCATGAACATGTTAACATTATTAATTCTTCTAATCTATAAGCACATGATATCTTTTCATTTTTTATTGCCCTCTATAATTTATTTCATTAGTGTTTGTTCTCATTGTGGAGATCTCTCACTTCTTTTGTTAAATTTGTTCCTACA	C	G106170669A	TBCK	NM_001163435.3(TBCK):c.2060-6793_2235+427del	noncoding	Pathogenic
4	106171094	CCAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTT	C	A106171096T	TBCK	NM_001163435.3(TBCK):c.2060_2235del:p.Glu687fs	noncoding	Pathogenic
4	106171175	GC	G	C106171176T	TBCK	NM_001163435.3(TBCK):c.2154del:p.Lys718fs	coding	Pathogenic
4	106171402	T	TA	C106171411A	TBCK	NM_001163435.3(TBCK):c.2060-140dup	noncoding	Benign
4	106194699	CG	C	G106194704A	TBCK	NM_001163435.3(TBCK):c.1897+18del	noncoding	Benign
4	106212704	C	CT	A106212716T	TBCK	NM_001163435.3(TBCK):c.1860+35dup	noncoding	Benign
4	106212704	CT	C	T106212715A	TBCK	NM_001163435.3(TBCK):c.1860+45del	noncoding	Benign
4	106212822	GAC	G	C106212824G	TBCK	NM_001163435.3(TBCK):c.1786_1787del:p.Val596fs	coding	Pathogenic
4	106232861	AT	A	T106232865A	TBCK	NM_001163435.3(TBCK):c.1639+76del	noncoding	Benign
4	106233747	AC	A	C106233749T	TBCK	NM_001163435.3(TBCK):c.1450-98del	noncoding	Benign
4	106235347	G	GT	A106235356T	TBCK	NM_001163435.3(TBCK):c.1370dup:p.Asn457fs	coding	Pathogenic/Likely_pathogenic
4	106236449	TG	T	G106236450A	TBCK	NM_001163435.3(TBCK):c.1290del:p.Arg431fs	coding	Pathogenic
4	106236489	AT	A	T106236491G	TBCK	NM_001163435.3(TBCK):c.1250del:p.Asn417fs	coding	Pathogenic
4	106236542	TAA	T	A106236553T	TBCK	NM_001163435.3(TBCK):c.1221-25_1221-24del	noncoding	Benign
4	106236542	TA	T	A106236554T	TBCK	NM_001163435.3(TBCK):c.1221-24del	noncoding	Benign
4	106244528	TA	T	A106244540C	TBCK	NM_001163435.3(TBCK):c.1070+97del	noncoding	Benign
4	106247242	TA	T	A106247243C	TBCK	NM_001163435.3(TBCK):c.827del:p.Val276fs	coding	Pathogenic
4	106248288	TCA	T	C106248291G	TBCK	NM_001163435.3(TBCK):c.737_738del:p.Val246fs	coding	Pathogenic
4	106250480	TAAATA	T	A106250485G	TBCK	NM_001163435.3(TBCK):c.598-7_598-3del	noncoding	Benign
4	106251931	G	GT	A106251938T	TBCK	NM_001163435.3(TBCK):c.531dup:p.Pro178fs	coding	Pathogenic/Likely_pathogenic
4	106260524	GA	G	A106260532C	TBCK	NM_001163435.3(TBCK):c.382-15del	noncoding	Benign
4	106260524	G	GA	C106260533A	TBCK	NM_001163435.3(TBCK):c.382-15dup	noncoding	Benign
4	106294915	CTA	C	A106294917G	TBCK	NM_001163435.3(TBCK):c.266+177_266+178del	noncoding	Benign
4	106295083	C	CT	A106295085T	TBCK	NM_001163435.3(TBCK):c.266+10dup	noncoding	Benign
4	106328209	CGAAAA	C	A106328214G	AIMP1	NM_001142416.2(AIMP1):c.362_366del:p.Lys121fs	coding	Pathogenic/Likely_pathogenic
4	106336956	A	AGTTC	A106336961G	AIMP1	NM_001142416.2(AIMP1):c.692_695dup:p.Pro233fs	coding	Pathogenic
4	107931681	AC	A	C107931684G	CYP2U1	NM_183075.3(CYP2U1):c.41del:p.Pro14fs	coding	Pathogenic
4	107931696	CGCGCCTCCTGCGT	C	C107931704T	CYP2U1	NM_183075.3(CYP2U1):c.61_73del:p.Leu21fs	coding	Pathogenic
4	107944841	T	TAC	T107944843C	CYP2U1	NM_183075.3(CYP2U1):c.491-128_491-127insCA	noncoding	Benign
4	107944851	T	TA	T107944852A	CYP2U1	NM_183075.3(CYP2U1):c.491-119_491-118insA	noncoding	Benign
4	107944852	T	TATATACATATATATA	T107944853A	CYP2U1	NM_183075.3(CYP2U1):c.491-118_491-117insATATACATATATATA	noncoding	Benign
4	107944852	T	TATATATATA	T107944853A	CYP2U1	NM_183075.3(CYP2U1):c.491-118_491-117insATATATATA	noncoding	Benign
4	107945285	T	TG	T107945288G	CYP2U1	NM_183075.3(CYP2U1):c.808dup:p.Val270fs	coding	Pathogenic
4	107945425	GAC	G	A107945426T	CYP2U1	NM_183075.3(CYP2U1):c.947_948del:p.Asp316fs	coding	Pathogenic
4	107947441	GC	G	C107947444A	CYP2U1	NM_183075.3(CYP2U1):c.1195del:p.Gln399fs	coding	Pathogenic
4	107986492	ATGATAAATGCTTAAAGTGACATATTATTTAATAATTATCCTGATTTGATCATTGTTCAACATATACATGCATTGAGACATCACACTGTACCCCATAAATATGTACAATTATTATTTGTCAATTGTACATAAAAGTAAAAAAAAAAAACTATCAGAATGATGCCTGCAAAAGGTATCTTGTGCTTCCGGGCATTGCATACTTAAGACGTTGGGGACTACCTATGTGGGTACAAATAATTGCTTGTGTGATTTCACTGGATTAAATCTAGCAAAGTCTTTTTACTAGATCCAGTGGTTTGCACCCTTACAACATGCTATATAGGGACCACAGAAGAGTAAGTTCACCACTGGATTTTATTCAGGAGCTATGCCAACTTGTGGGTGGACAAATTTAACTGACCTCGGCTCAAACACCACTAAGTGGCCCTCTTTTCAAGCCCCCAAGGGCCTACATTGGGTTGGTGGATAATCTGACCTGCCTTCTCTGTTGTTTCCTCACTGGTTCAGATCTTGCTATTTGGCCTGGCTCGCTCCTACATCCCAATAGCCTTCCCTGAAAGTTCCCATAATACCTTTCATAATCAGAGGTTAAAGCAGTCAATAACCAAAGTAAGCACCAACCTAAAAATAAATGAAGACAAGTTAGTTTCTACTGAGGAAAGGTTCCAATGGAGGTGCTGGAACTCACTCTTGGCATTAGCAGGGTGCCTGTTGTATGGAATTTGAAACTAATCTATAAATTGGGGAAAATCTTGAATTTGTAGCCAGTCAGACCTCCTAGGGGTTCACATGGTAGAAGCTACTCAAATATTCTCAGTGGATCAAAACATTTGTGTTCAACAAACACACTTCATGGAACATTACACAACTTTGGATCTCCTCTTTGCTCATGCTGGGGGCTCTTGCATGGTGCTGAATAAAACTGAATGTTGCACTTATTTTTCCTCTAATTTTACTACTATAGAAAACTTAATTTAAAAGGTGGCAGATACTGCTGTTTCTCTAAACACTGCCACTGAATATATTAAGGAAACTTCTCAGGGGAAAGGAACACATGATACATTTATGGGAGCAGCTAATGGTTGGTTTGTAGGCATCCTGAGTAGTGAAAGGCAAGCTAGGCTATTCCAAACTTTTCTAATCTTTATGCTTCTTTAGTGGCTCTCCAGGTTATTATAACTTGTGTTACCAGGCTAATTACAAAAATGGATACCTCTTTAAATCAGGCCATAAGGCTGAATCAGGTCATTCAGTGAACTATGGTCCTTGTAAAAAGTAAAGTAGAGGTTCCTTTTCAAAGACTTTCCTCCTCATCTGATTAGGAATAAATAGTAACCTCTCTTAGAAGCAAAATTTATTCAAAGACCTGTTAACATTCTTAAATATCTGCTAGCTGTAATAAAGAAATCAATGTACTTTATGTTCTTAGCTCCCACAATTTAGCCTAAATATTTGCCCTGGCATGCTTATACTGGTCCAAGTGGGCATTAGGTCATAGCCTGTTCCTCTTCCTTATTTAGAGGTGTTTTTCCCTTCTCAGCATTCCACAAGTTACTTCCTCCTTCCTTTGTTCTCCTCTGCCTTTGCCTCTTTTAAGAATTTCTAAGTTGCTAGCCAATCAAGACAAATACAGAATGTGAAGTCCCGTTCTAGCCAATGGAAACCAGTCACAACAGTAAGGTGGACGGGTCAGGTTATAAATGACCCTGCCTCCTTTGTTCGGTGTACTCTTGTGGCAAAACTGCTGGCGAGTGTACTCTTTCCGCAGAAAGTAAAAATGGCCTTGCTAAAGAAATTAATTTTATGTTCAAGTGCTATTTCTTTACGGCACCAAGAAATAAGCATTTCTAGCAGTCCTTAACCGCCATAATGCCCTAAATTAGACCATGACCAATTGGACTCAAATACTTTGAACTATCTTTATTGCCTGAACTTTGAATTGTTTAATTTTGATCAGTTCAGTTTGTGGAGACTCCTGTTAAGGTGTGTACCTCAGTTTATTGCTATACTCCTTCTCGTGGCCATAATAGTCTCCCTGATGTGTTGTTGTCCCCTCGAGAGTCTTCAATGTCTCTATGCAGCCATCCTTTGTACACCAAATGGTGTTATTACAGTTAGAATAACAACATGAAGAAAGTATAATCACTCAACTAATTTGACATTGTGACTTCCATACTGAGACAAAACAAGGTTCTGGTCAATCTCGTAAAACTGAGAGGCTGACCCAAAGGAGGAAACTGTTATTAAATTAAATCTGGCCTAAAGTTGCCTCCCTACCTAGCAAAGCATAATCAAACCTAATATGTAAATAAACTGCAATGTAATTTGAGAGTACGTTCTTCTAACAAGTGGCCAAGTCTTGGCCAATCACCGCAGCGGAGCTTTTAGCCCATTACAGGCTGCAAAAAATATTGTCTATAAACGCGGCTTGCCCACTGTTAGGGGCTGGAGCTCTCTGAACCTTTACTGGCTCAGGATACTACATGATTCATGCTTTCTTTGCTCAGATAAACTCTGCTAAACTTGTTTGAAGTTTTTTTGTTAACAATATTTAAACATAAAGCAAATAAATTAATAAGAATCCTATATCACTAAGTTACAGTAATTAGAAAGTATTCACCTGAGTGAGAAGATTGGCCAAGCTGCTATCCAGTCTTCCATTATTTGACAAGACATTTCTTTCCTATGCTTTCTAATAGTATTCGTTATTCCAGAAAGGTTGCTCTATGACCTTAAACCGTCCACATGTTCACTGCACTGATAGACGTCCAACGTCAAGATGGGTAACTAAAGGTCAACTCTCTCTTTACCTTCCCTGAGCCTGATTTTTGCATTGTAACTCATGGTCACTAGACATTTGTTTTGGGTGTTCGCAGTCTACATTTATTTCCCTTTTAGGGGAAACAATCACTGTCCACGGGATTAAAATAATCCCGAGTTGATTATTTGGTGACATCAACCAACGGTGCACATTTTGGGTCCATTACCAACACAGCCAAGCAGCACATATTTCTTCAGAGCCTAGATATGCACATGTCATCAAAGGATAGCATTTTACAGAGTCAACACCACTCACTTCATAGAACAAGGGGCCAGTGGCTTTTCAGAAGAAGGGTCTGTTCTCGGCCCCACACCAGAACGCCAGCCGCCAGGTCCCGCTGCTCAGCAGGTCTCAAGCCCGCGCTCACTCGGGCTCCGGCTGCTGACAGCTGCGAGCCCGCGCGTGTATACCCGCTCAACGCTGGGACGTTACAGCCAGGGCCAATGGGCAGAGCGGGACTCGAGGCCCCGCCCCCGCCTTGTGGCGTCACGGGGACGCCGGGGGCGCGCGGGCTGCAGGGCCGCGTAGGTCCCCGCCCCCAGAGTCTGGCTTTCCGCGGCTGCCCGCCTCGCGCGTCTTCCCTGCCCGGGTCTCCTCGCTGTCGCCGCCGCTGCCACACCATGGCCTTCGTCACCAGGCAGTTCATGCGTTCCGTGTCCTCCTCGTCCACCGCCTCGGCCTCGGCCAAGAAGATAATCGTCAAGCACGTGACGGTCATCGGCGGCGGGCTGATGGGCGCCGGCATTGCCCAGGTGAGCGGCCCTCCCTGCAGCGTGCCCACGCGCTTGGCCGCCCACCCTGAGGTGGAAGCTCTGGCGCGACCGGCCGCGAGGGGCCTGCACCCGCCCGACACCAGGGAGTTTTCACCCCGCGCCTCCCGGGTGTAGTTGAAATATCTCGCGTCTGGGCCTGTGAGGGCCCAAGTCTCACTCCCCTCAAAATTCAGGGTTCTGGGCCGATCCTCAGCTTCCTCGTTTGGAAAATTCTGGCTGCCCCCAGGGCCCGCTGAAGGTTCCATGGAGAGTGGCGGTGAATGCATTTTGGAAGCGGGCCGTGCAAGAGAAGAAAGAATTGTATGTGCACAAGGTTCAGGCATAACGCGTTTGTTCCTGCTCGGCTCAAACGGGAGTTTGCTGCCAAAGACATGAACTGCGATCAGTTTTAATTCTATCAGTTATTTTTGATTTTTATTCTGTAATTGTGCAGTCTTTGTCAAAGTAGTTTTCTCTCCTAAACGGCCTCCCGGCTCTCCCCGGTCTTTCCTTCGCTTGCTAGGTTGTAAAGAATAGTAGTAGTCATGACTTTTGTAGCACTTTGTAAAGTCACCTAATGGAAGATTGCTGAGGTCCTGGTTTTGACCTTTGAAATAGTGCCGTCTGTGCAGAGTTCTGAGCTTGCGATTTTGGCGCTGCAGCGGAATAAGTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGTCGGAGTCTCTTTGACCCAGGCTGGAGTGGAGTGCAATGGCGCGATCTCGGTTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCCGCCCGGCTAATTTTATATTTTTAGTAGAGACAGGGTTTCACCTTGTGGGTCAGGCTGATCTCGAACTCCTGACCAAAGGTGATCCGCCCGCCTGGCCTCCCGAAGTGCTGGGATTACAGGCGTTAGCCACTGCACCCAGCCGGAACAAGTCTTTTATCCATTGTACATCTTCAGGGCTTTTCCATTGTTCTGCTGAGCTGTGGTTCAGGCTCAGTTGTGCGAGTGATTGATTACCTGGCTACTGTAATGCTTGTACTTTTTTTTTTTAAAAATTATTCCATTTCAGCTCACATTGGAGAACCATGGTTTTCGTATCCTAGCTGATTATATTCTTAGCATTTCAGTCCTTTGCAACTTGGTTTGTTGGGGAAGGCGGTTATAGTCATCTAATTTTTCTTGGGGACAGTACTACTGTGGCTACAGTCATGAGAGAGTTTACTTTTTCAATGTCTTGTTTCCAACCAAGTCCACGCTTTCATGCTTGCTTTTTAAAAACAAAAACAAAAAAACCTTTTACTATTAGGTATTATATATCTCAATTTTCTTCTCCTTGGCAAGTTTTTTACAACGTTTTTATTTGATTGCATTTTCTTCTAAAAGCTATATCCCTGTAATGTTTTATTTATATGACTTCTTACAGTCTCCCATTTCCTCTGAGACCATAATTTTGGACATACATTGCCCTTTTTATTGTGTGGATCCCCTGGCTGCTAGGTTATAGTATCCCCATAATCTATGTTGTATGTGGACTGGGAGGAGTAACTCCCTTTAACCTAAAAGTTCCACAGGTTATACTCAAGAGAAAGTTTAGTTTGAGTACGTTTGTATTCCCAGGCTCCACCCAAATCTCCCAAGGCTGTGAGAGTGAGATTTGTTGTGAGCAGGAATAGAACAATGTGTTTTTTAGAAACATTTTAACAACATCTTAGTAACAAAATATTAGGGCCTTAAGCAGCCTCCAGGAACATTATGGGAAATGGATCCAGAAACTTGTGGCTGGTGTCCTTGAAGACAGCAGTGGAAAAAGATTAGAAACTAAGTAGAAAGCGTCACTTCAACTTTTGTAGAAAATCAGAGTGCTTAGTTCTTTGAATGCTGCATCCATCAT	A	A107986495G	HADH	NM_005327.2:c.1-3440_132+1943del	noncoding	Pathogenic
4	108009977	C	CT	C108009995T	HADH	NM_005327.7(HADH):c.261+107dup	noncoding	Benign
4	108023468	TTCCAGG	T	C108023471A	HADH	NM_005327.7(HADH):c.547-3_549del	noncoding	Pathogenic
4	108032125	CTCTTT	C	T108032131A	HADH	NM_005327.7(HADH):c.710-1045_710-1041del	noncoding	Benign
4	108070731	CATA	C	A108070735T	LEF1	NM_016269.5(LEF1):c.1042TAT[1]:p.Tyr349del	coding	Pathogenic
4	108089127	TG	T	G108089128T	LEF1	NM_016269.5(LEF1):c.544del:p.Gln182fs	coding	Pathogenic
4	108167696	G	GATC	T108167703A	LEF1	NM_016269.5(LEF1):c.66GAT[3]:p.Met23dup	coding	Pathogenic
4	109742570	CTGAAG	C	G109742575A	CFI	NM_000204.5(CFI):c.1450_1454del:p.Leu484fs	coding	Pathogenic
4	109749265	T	TC	A109749271C	CFI	NM_000204.5(CFI):c.1100dup:p.Ile368fs	coding	Pathogenic
4	109752729	CTA	C	T109752730G	CFI	NM_000204.5(CFI):c.905-228_905-227del	noncoding	Benign
4	109757663	CA	C	A109757664T	CFI	NM_000204.5(CFI):c.904+99del	noncoding	Benign
4	109757794	CA	C	A109757799C	CFI	NM_000204.5(CFI):c.884-12del	noncoding	Benign
4	109757823	T	TTTTAA	G109757827A	CFI	NM_000204.5(CFI):c.884-41_884-40insAAATT	noncoding	Benign
4	109759936	T	TACAA	T109759951A	CFI	NM_000204.5(CFI):c.883+322TTGT[4]	noncoding	Benign
4	109760366	CT	C	T109760369G	CFI	NM_000204.5(CFI):c.786del:p.Gly263fs	coding	Pathogenic
4	109760514	TATGTCTACCTTTACAACA	GTGGATAC	T109760514G	CFI	NM_000204.5(CFI):c.763_772+9delinsGTATCCAC	noncoding	Pathogenic
4	109760534	AG	A	G109760535T	CFI	NM_000204.5(CFI):c.760del:p.Leu254fs	coding	Pathogenic
4	109764697	T	TA	C109764705A	CFI	NM_000204.5(CFI):c.329-14dup	noncoding	Benign
4	109766614	TC	T	C109766615T	CFI	NM_000204.5(CFI):c.267del:p.Ser90fs	coding	Pathogenic
4	109766615	CTT	C	T109766618G	CFI	NM_000204.5(CFI):c.265_266del:p.Lys89fs	coding	Pathogenic
4	109802334	A	AT	A109802335T	CFI	Single_allele	noncoding	Benign
4	109963064	C	CA	T109963082A	EGF	NM_001963.6(EGF):c.1313-92dup	noncoding	Benign
4	109968933	TA	T	A109968942T	EGF	NM_001963.6(EGF):c.1576-29del	noncoding	Benign
4	109988192	C	CT	A109988211T	EGF	NM_001963.6(EGF):c.2608+350dup	noncoding	Benign
4	109988192	C	CTTT	A109988211T	EGF	NM_001963.6(EGF):c.2608+348_2608+350dup	noncoding	Benign
4	109988192	CT	C	T109988210A	EGF	NM_001963.6(EGF):c.2608+350del	noncoding	Benign
4	110004211	TACATACACAC	T	T110004215C	EGF	NM_001963.6(EGF):c.3174-290_3174-281del	noncoding	Benign
4	110004211	T	TAC	T110004215C	EGF	NM_001963.6(EGF):c.3174-292_3174-291dup	noncoding	Benign
4	110004213	CAT	C	T110004215C	EGF	NM_001963.6(EGF):c.3174-290_3174-289del	noncoding	Benign
4	110004215	TAC	T	C110004251A	EGF	NM_001963.6(EGF):c.3174-289AC[17]	noncoding	Benign
4	110004215	T	TAC	A110004253C	EGF	NM_001963.6(EGF):c.3174-289AC[19]	noncoding	Benign
4	110004215	T	TACAC	A110004253C	EGF	NM_001963.6(EGF):c.3174-289AC[20]	noncoding	Benign
4	110004215	T	TACACAC	A110004253C	EGF	NM_001963.6(EGF):c.3174-289AC[21]	noncoding	Benign
4	110618210	TGCTTTGCTTTCAGTCTCAGGCTG	T	T110618213C	PITX2	NM_000325.6(PITX2):c.867_889del:p.Ser290fs	coding	Pathogenic
4	110618260	AT	A	T110618261A	PITX2	NM_000325.6(PITX2):c.839del:p.Tyr280fs	coding	Pathogenic
4	110618307	G	GCA	C110618311A	PITX2	NM_000325.6(PITX2):c.791_792dup:p.Pro265fs	coding	Pathogenic
4	110618309	AC	A	C110618311G	PITX2	NM_000325.6(PITX2):c.790del:p.Val264fs	coding	Pathogenic
4	110618383	T	TGTCACTGCTGAGGGCAC	C110618401G	PITX2	NM_000325.6(PITX2):c.700_716dup:p.Thr239_Gly240insCysProGlnGlnTer	coding	Pathogenic
4	110618436	TG	T	G110618439T	PITX2	NM_000325.6(PITX2):c.663del:p.Asn222fs	coding	Pathogenic
4	110618574	CG	C	G110618575T	PITX2	NM_000325.6(PITX2):c.525del:p.Asp175fs	coding	Pathogenic
4	110618584	CT	C	T110618585G	PITX2	NM_000325.6(PITX2):c.515del:p.Gln172fs	coding	Pathogenic
4	110618593	CCCAT	C	C110618594T	PITX2	NM_000325.6(PITX2):c.503_506del:p.Asn168fs	coding	Pathogenic
4	110618650	CCT	C	C110618653T	PITX2	NM_000325.6(PITX2):c.448_449del:p.Arg150fs	coding	Pathogenic
4	110621265	G	GCTGCTGGCTGGTAAAGTGAGT	C110621288T	PITX2	NM_000325.6(PITX2):c.289_309dup:p.Gln103_Leu104insThrHisPheThrSerGlnGln	coding	Pathogenic
4	110621271	GGC	G	G110621272T	PITX2	NM_000325.6(PITX2):c.302_303del:p.Ser101fs	coding	Pathogenic
4	110621281	G	GT	G110621283T	PITX2	NM_000325.6(PITX2):c.293dup:p.His98fs	coding	Pathogenic
4	110622846	GCC	G	C110622855A	PITX2	NM_000325.6(PITX2):c.-388_-387del	coding	Benign
4	110622846	GC	G	C110622856A	PITX2	NM_000325.6(PITX2):c.-387del	coding	Benign
4	112644731	AAG	A	G112644733A	LARP7	NM_016648.4(LARP7):c.64_65del:p.Glu22fs	coding	Pathogenic
4	112644786	T	TA	G112644789A	LARP7	NM_016648.4(LARP7):c.119dup:p.Gln41fs	coding	Pathogenic
4	112646442	TGTTGTAGAG	T	T112646445A	LARP7	NM_016648.4(LARP7):c.297_303+2del	coding	Pathogenic
4	112646970	TAA	T	A112646982G	LARP7	NM_016648.4(LARP7):c.552+27_552+28del	noncoding	Benign
4	112646980	AAAAG	A	G112646988A	LARP7	NM_016648.4(LARP7):c.552+33_552+36del	noncoding	Benign
4	112647242	GGAAGACAAT	TCCAAGCCAATAGACAATATCCAAGCC	G112647242T	LARP7	NM_016648.4(LARP7):c.690_699delinsTCCAAGCCAATAGACAATATCCAAGCC:p.Lys230_Asn233delinsAsnProSerGlnTer	coding	Pathogenic
4	112647262	AAG	A	G112647264A	LARP7	NM_016648.4(LARP7):c.712_713del:p.Glu238fs	coding	Pathogenic
4	112647339	A	AT	G112647342T	LARP7	NM_016648.4(LARP7):c.789dup:p.Glu264Ter	coding	Pathogenic
4	112647374	GAAAAAGAAAA	G	A112647377C	LARP7	NM_016648.4(LARP7):c.825_834del:p.Lys275fs	coding	Pathogenic
4	112647380	G	GN	A112647381N	LARP7	NM_016648.4(LARP7):c.828_829insN:p.Lys277fs	coding	Pathogenic
4	112647426	ACAGGGAAGAGGAAGAGAAG	A	G112647430C	LARP7	NM_016648.4(LARP7):c.878_896del:p.Gly293fs	coding	Pathogenic
4	112647479	ATCAAAAGTAAAGAAAATTAT	A	A112647483G	LARP7	NM_016648.4(LARP7):c.931_950del:p.Lys311fs	coding	Pathogenic
4	112647736	A	AGATAGCT	C112647744G	LARP7	NM_016648.4(LARP7):c.1045_1051dup:p.Ser351Ter	coding	Pathogenic
4	112647746	CTCTT	C	T112647747G	LARP7	NM_016648.4(LARP7):c.1055_1058del:p.Leu352fs	coding	Pathogenic
4	112647779	CAT	C	T112647781A	LARP7	NM_016648.4(LARP7):c.1089_1090del:p.His363fs	coding	Pathogenic/Likely_pathogenic
4	112647781	TAAAG	T	A112647783G	LARP7	NM_016648.4(LARP7):c.1091_1094del:p.Lys364fs	coding	Pathogenic/Likely_pathogenic
4	112649553	GAA	G	A112649558G	LARP7	NM_016648.4(LARP7):c.1166_1167del:p.Lys389fs	coding	Pathogenic
4	112649914	TAC	T	C112649916G	LARP7	NM_016648.4(LARP7):c.1294+230_1294+231del	noncoding	Benign
4	112650523	AG	A	G112650524T	LARP7	NM_016648.4(LARP7):c.1358del:p.Ser453fs	coding	Pathogenic
4	112654051	CTTTG	C	G112654059T	LARP7	NM_016648.4(LARP7):c.1577-9_1577-6del	noncoding	Benign
4	112657170	T	TTGTGTG	T112657202G	LARP7	NM_016648.4(LARP7):c.1669-76TG[18]	noncoding	Benign
4	112657170	T	TTGTGTGTG	T112657202G	LARP7	NM_016648.4(LARP7):c.1669-76TG[19]	noncoding	Benign
4	112657242	TTTAG	T	G112657246A	LARP7	NM_016648.4(LARP7):c.1669-1_1671del	noncoding	Pathogenic
4	112657326	GA	G	A112657336C	LARP7	NM_016648.4(LARP7):c.*9del:p.Ter583=	coding	Benign
4	112657326	G	GA	C112657337A	LARP7	NM_016648.4(LARP7):c.*9dup:p.Ter583=	coding	Benign
4	113196318	A	AT	C113196323T	ANK2	NM_001148.6(ANK2):c.187-46dup	noncoding	Benign
4	113198934	T	TG	A113198936G	ANK2	NM_001148.6(ANK2):c.286-76dup	noncoding	Benign
4	113237239	TA	T	A113237242G	ANK2	NM_001148.6(ANK2):c.669+70del	noncoding	Benign
4	113255692	G	GA	G113255704A	ANK2	NM_001148.6(ANK2):c.991-32dup	noncoding	Benign
4	113264722	C	CA	G113264737A	ANK2	NM_001148.6(ANK2):c.1387-161dup	noncoding	Benign
4	113302898	AC	A	C113302901T	ANK2	NM_001148.6(ANK2):c.2548+62del	noncoding	Benign
4	113332083	TA	T	A113332087C	ANK2	NM_001148.6(ANK2):c.3224+17del	noncoding	Benign
4	113333109	C	CT	G113333111T	ANK2	NM_001148.6(ANK2):c.3281dup:p.Val1095fs	coding	Pathogenic
4	113333296	A	ATGTGTGTG	A113333298G	ANK2	NM_001148.6(ANK2):c.3379+89_3379+90insGTGTGTGT	noncoding	Benign
4	113333298	A	ATG	C113333332G	ANK2	NM_001148.6(ANK2):c.3379+91TG[17]	noncoding	Benign
4	113333298	A	ATGTG	C113333332G	ANK2	NM_001148.6(ANK2):c.3379+91TG[18]	noncoding	Benign
4	113333298	A	ATGTGTG	C113333332G	ANK2	NM_001148.6(ANK2):c.3379+91TG[19]	noncoding	Benign
4	113336292	TA	T	A113336306G	ANK2	NM_001148.6(ANK2):c.3591+249del	noncoding	Benign
4	113336473	T	TAA	T113336480A	ANK2	NM_001148.6(ANK2):c.3592-99_3592-98dup	noncoding	Benign
4	113336473	T	TA	T113336480A	ANK2	NM_001148.6(ANK2):c.3592-98dup	noncoding	Benign
4	113342699	C	CA	T113342715A	ANK2	NM_001148.6(ANK2):c.4123-303dup	noncoding	Benign
4	113358978	AG	A	G113358985C	ANK2	NM_001148.6(ANK2):c.10367del:p.Gly3456fs	coding	Pathogenic
4	113365201	A	ATG	T113365233G	ANK2	NM_001148.6(ANK2):c.11032+20TG[16]	noncoding	Benign
4	113365201	A	ATGTG	T113365233G	ANK2	NM_001148.6(ANK2):c.11032+20TG[17]	noncoding	Benign/Likely_benign
4	113365201	A	ATGTGTG	T113365233G	ANK2	NM_001148.6(ANK2):c.11032+20TG[18]	noncoding	Benign
4	113365201	ATGTG	A	G113365229T	ANK2	NM_001148.6(ANK2):c.11032+20TG[13]	noncoding	Benign
4	113365201	ATGTGTG	A	G113365227T	ANK2	NM_001148.6(ANK2):c.11032+20TG[12]	noncoding	Benign
4	118723660	G	GA	C118723671A	SEC24D	NM_014822.4(SEC24D):c.2959-15dup	noncoding	Benign
4	118744173	C	CA	G118744183A	SEC24D	NM_014822.4(SEC24D):c.1825-16dup	noncoding	Benign
4	118752896	G	GA	G118752907A	SEC24D	NM_014822.4(SEC24D):c.1422-9dup	noncoding	Benign
4	118768394	C	CT	G118768413T	SEC24D	NM_014822.4(SEC24D):c.1042-101dup	noncoding	Benign
4	118768394	C	CTT	G118768413T	SEC24D	NM_014822.4(SEC24D):c.1042-101_1042-100dup	noncoding	Benign
4	118814786	CA	C	A118814795G	SEC24D	NM_014822.4(SEC24D):c.801+241del	noncoding	Benign
4	118815039	TAG	T	A118815042T	SEC24D	NM_014822.4(SEC24D):c.788_789del:p.Ser263fs	coding	Pathogenic
4	118815798	AC	A	C118815799A	SEC24D	NM_014822.4(SEC24D):c.398-73del	noncoding	Benign
4	119135991	G	GT	G119135994T	MYOZ2	NM_016599.5(MYOZ2):c.-15+11dup	noncoding	Benign/Likely_benign
4	119150863	G	GT	A119150868T	MYOZ2	NM_016599.5(MYOZ2):c.77-5dup	noncoding	Benign/Likely_benign
4	119151162	AT	A	T119151172A	MYOZ2	NM_016599.5(MYOZ2):c.246+131del	noncoding	Benign
4	119151162	ATT	A	T119151171A	MYOZ2	NM_016599.5(MYOZ2):c.246+130_246+131del	noncoding	Benign
4	119256463	CA	C	A119256464T	USP53	NM_001371395.1(USP53):c.510del:p.Ser171fs	coding	Pathogenic
4	119261837	AT	A	T119261843G	USP53	NM_001371395.1(USP53):c.951del:p.Phe317fs	coding	Pathogenic
4	119271546	CA	C	A119271547G	USP53	NM_001371395.1(USP53):c.1687del:p.Ser563fs	coding	Pathogenic
4	119319647	CATA	C	A119319677G	FABP2	NM_000134.4(FABP2):c.241-34TAT[9]	noncoding	Benign
4	119319647	C	CATAATAATA	G119319680A	FABP2	NM_000134.4(FABP2):c.241-34TAT[13]	noncoding	Benign
4	119319647	C	CATA	G119319680A	FABP2	NM_000134.4(FABP2):c.241-34TAT[11]	noncoding	Benign
4	119322181	TA	T	A119322182G	FABP2	Single_allele	noncoding	Benign
4	119322234	A	ACTACT	T119322238C	FABP2	Single_allele	noncoding	Benign
4	120710220	G	GAT	C120710222T	PRDM5	NM_018699.4(PRDM5):c.1728+88_1728+89insTA	noncoding	Benign
4	120777211	C	CT	G120777213T	PRDM5	NM_018699.4(PRDM5):c.1513dup:p.Arg505fs	coding	Pathogenic
4	120785330	AT	A	T120785331A	PRDM5	NM_018699.4(PRDM5):c.1189-240del	noncoding	Benign
4	120798544	TA	T	A120798550C	PRDM5	NM_018699.4(PRDM5):c.1031-121del	noncoding	Benign
4	120811184	A	AT	A120811187T	PRDM5	NM_018699.4(PRDM5):c.945+184dup	noncoding	Benign
4	120816943	AAG	A	G120816947A	PRDM5	NM_018699.4(PRDM5):c.651-21_651-20del	noncoding	Benign/Likely_benign
4	120818234	CA	C	A120818238C	PRDM5	NM_018699.4(PRDM5):c.650+118del	noncoding	Benign
4	120818256	G	GCA	G120818273C	PRDM5	NM_018699.4(PRDM5):c.650+81TG[9]	noncoding	Benign
4	120907334	CA	C	A120907351C	PRDM5	NM_018699.4(PRDM5):c.177+139del	noncoding	Benign
4	120907334	C	CA	C120907352A	PRDM5	NM_018699.4(PRDM5):c.177+123dup	noncoding	Benign
4	121804719	G	GA	G121804722A	EXOSC9	NM_005033.3(EXOSC9):c.484dup:p.Arg162fs	coding	Pathogenic
4	121807504	GTGACTATAATTATTAAA	G	T121807505C	EXOSC9	NM_005033.3(EXOSC9):c.523-35_523-19del	noncoding	Benign
4	121814069	A	ATTT	C121814070T	EXOSC9	NM_005033.3(EXOSC9):c.1156+22_1156+23insTTT	noncoding	Benign
4	121814070	C	CTTA	C121814074T	EXOSC9	NM_005033.3(EXOSC9):c.1156+24_1156+26dup	noncoding	Benign
4	121816332	C	CT	A121816349T	EXOSC9	NM_005033.3(EXOSC9):c.1157-21dup	noncoding	Benign
4	121816332	CT	C	T121816348A	EXOSC9	NM_005033.3(EXOSC9):c.1157-21del	noncoding	Benign
4	121828192	TA	G	T121828192G	BBS7	NM_176824.3(BBS7):c.1967_1968delinsC:p.Leu656fs	coding	Pathogenic/Likely_pathogenic
4	121828985	T	TA	C121828989A	BBS7	NM_176824.3(BBS7):c.1677-260dup	noncoding	Benign
4	121843981	TA	T	A121843984T	BBS7	NM_176824.3(BBS7):c.1250del:p.Leu417fs	coding	Pathogenic
4	121844015	T	TA	G121844025A	BBS7	NM_176824.3(BBS7):c.1231-15dup	noncoding	Benign
4	121845639	CTG	C	G121845641T	BBS7	NM_176824.3(BBS7):c.1093_1094del:p.Gln365fs	coding	Pathogenic
4	121845649	TTC	T	C121845655T	BBS7	NM_176824.3(BBS7):c.1083_1084del:p.Asn362fs	coding	Pathogenic
4	121847720	A	AT	G121847731T	BBS7	NM_176824.3(BBS7):c.935-224dup	noncoding	Benign
4	121848809	CTCTT	C	T121848814C	BBS7	NM_176824.3(BBS7):c.934+31_934+34del	noncoding	Benign/Likely_benign
4	121859031	AG	A	G121859033T	BBS7	NM_176824.3(BBS7):c.488del:p.Pro163fs	coding	Pathogenic
4	121912015	CA	C	A121912017G	TRPC3	NM_001130698.2(TRPC3):c.1419del:p.Val474fs	coding	Pathogenic
4	122187879	AT	A	T122187892A	KIAA1109	NM_001384125.1(KIAA1109):c.628-3del	noncoding	Benign
4	122200991	CTAACA	C	A122200993T	KIAA1109	NM_001384125.1(KIAA1109):c.1381-16_1381-12del	noncoding	Benign
4	122208985	TAA	T	A122209003G	KIAA1109	NM_001384125.1(KIAA1109):c.1753-156_1753-155del	noncoding	Benign
4	122208985	TA	T	A122209004G	KIAA1109	NM_001384125.1(KIAA1109):c.1753-155del	noncoding	Benign
4	122237981	C	CAA	T122238002A	KIAA1109	NM_001384125.1(KIAA1109):c.3575-92_3575-91dup	noncoding	Benign
4	122237981	C	CA	T122238002A	KIAA1109	NM_001384125.1(KIAA1109):c.3575-91dup	noncoding	Benign
4	122239968	G	GT	A122239970T	BLTP1	NM_001384125.1(BLTP1):c.4287dup:p.Arg1430Ter	coding	Pathogenic
4	122246966	CAT	C	A122246969G	KIAA1109	NM_001384125.1(KIAA1109):c.5312+159_5312+160del	noncoding	Benign
4	122254636	A	AT	A122254645T	KIAA1109	NM_001384125.1(KIAA1109):c.6075-161dup	noncoding	Benign
4	122289173	A	AGT	A122289176G	BLTP1	NM_001384125.1(BLTP1):c.9370_9371dup:p.Val3124_Ile3125insTer	coding	Pathogenic
4	122301262	TA	T	A122301273T	KIAA1109	NM_001384125.1(KIAA1109):c.9389-27del	noncoding	Benign
4	122301262	T	TA	T122301274A	KIAA1109	NM_001384125.1(KIAA1109):c.9389-27dup	noncoding	Benign
4	122305721	G	GT	A122305725T	KIAA1109	NM_001384125.1(KIAA1109):c.9673-153dup	noncoding	Benign
4	122347899	CA	C	A122347916T	KIAA1109	NM_001384125.1(KIAA1109):c.13393+137del	noncoding	Benign
4	122451780	CA	C	A122451784G	IL2	NM_000586.4(IL2):c.433del:p.Cys145fs	coding	Pathogenic
4	122456306	CA	C	A122456310T	IL2	NM_000586.4(IL2):c.134del:p.Ile44_Leu45insTer	coding	Pathogenic
4	122615527	TAAAAA	T	A122615539G	IL21	NM_021803.4(IL21):c.360+150_360+154del	noncoding	Benign
4	122615527	T	TA	G122615544A	IL21	NM_021803.4(IL21):c.360+139dup	noncoding	Benign
4	122741915	TAAAC	T	C122741919A	BBS12	NM_152618.3(BBS12):c.27_30del:p.Asn9fs	coding	Pathogenic
4	122741940	T	TC	A122741942C	BBS12	NM_152618.3(BBS12):c.49dup:p.Gln17fs	coding	Pathogenic/Likely_pathogenic
4	122741947	CT	C	T122741950C	BBS12	NM_152618.3(BBS12):c.58del:p.Ser20fs	coding	Pathogenic
4	122742079	AC	A	C122742081A	BBS12	NM_152618.3(BBS12):c.189del:p.Ser64fs	coding	Pathogenic
4	122742159	GT	G	T122742162C	BBS12	NM_152618.3(BBS12):c.270del:p.Val92fs	coding	Pathogenic/Likely_pathogenic
4	122742288	AC	A	C122742290T	BBS12	NM_152618.3(BBS12):c.398del:p.Pro133fs	coding	Pathogenic
4	122742359	GTT	G	T122742361G	BBS12	NM_152618.3(BBS12):c.469_470del:p.Leu157fs	coding	Pathogenic
4	122742479	CAT	C	A122742482G	BBS12	NM_152618.3(BBS12):c.590_591del:p.Ser196_Tyr197insTer	coding	Pathogenic
4	122742555	T	TG	C122742557G	BBS12	NM_152618.3(BBS12):c.664dup:p.Ala222fs	coding	Pathogenic
4	122742574	CA	C	A122742575G	BBS12	NM_152618.3(BBS12):c.683del:p.Gln228fs	coding	Pathogenic
4	122742584	T	TA	T122742587A	BBS12	NM_152618.3(BBS12):c.694dup:p.Ile232fs	coding	Pathogenic
4	122742669	TCA	T	C122742672A	BBS12	NM_152618.3(BBS12):c.780_781del:p.His260fs	coding	Pathogenic
4	122742755	AAGCAGTAC	A	A122742759T	BBS12	NM_152618.3(BBS12):c.867_874del:p.Val290fs	coding	Pathogenic
4	122742757	GCAGTA	G	T122742761C	BBS12	NM_152618.3(BBS12):c.869_873del:p.Val290fs	coding	Pathogenic/Likely_pathogenic
4	122742779	ATGCT	A	C122742782T	BBS12	NM_152618.3(BBS12):c.890_893del:p.Ala297fs	coding	Pathogenic
4	122742801	CTG	C	G122742803A	BBS12	NM_152618.3(BBS12):c.911_912del:p.Cys304fs	coding	Pathogenic
4	122742974	G	GGGGT	T122742975G	BBS12	NM_152618.3(BBS12):c.1082_1083insGGGT:p.Asp362fs	coding	Pathogenic
4	122742978	CCT	C	T122742980A	BBS12	NM_152618.3(BBS12):c.1088_1089del:p.Leu363fs	coding	Pathogenic
4	122743082	C	CA	T122743086A	BBS12	NM_152618.3(BBS12):c.1193dup:p.Asn398fs	coding	Pathogenic
4	122743176	CAGTA	C	T122743179C	BBS12	NM_152618.3(BBS12):c.1287_1290del:p.Lys430fs	coding	Pathogenic/Likely_pathogenic
4	122743263	T	TA	C122743265A	BBS12	NM_152618.3(BBS12):c.1372dup:p.Thr458fs	coding	Pathogenic/Likely_pathogenic
4	122743281	TTGTG	T	T122743284G	BBS12	NM_152618.3(BBS12):c.1392_1395del:p.Cys464fs	coding	Pathogenic
4	122743281	TTG	T	T122743286G	BBS12	NM_152618.3(BBS12):c.1394_1395del:p.Val465fs	coding	Pathogenic
4	122743346	AC	A	C122743347A	BBS12	NM_152618.3(BBS12):c.1455del:p.Asn485fs	coding	Pathogenic
4	122743354	ATC	A	T122743355G	BBS12	NM_152618.3(BBS12):c.1463_1464del:p.Ile488fs	coding	Pathogenic
4	122743551	TGCAGA	T	G122743555A	BBS12	NM_152618.3(BBS12):c.1663_1667del:p.Glu555fs	coding	Pathogenic
4	122743596	GC	G	C122743597T	BBS12	NM_152618.3(BBS12):c.1705del:p.Leu569fs	coding	Pathogenic
4	122743704	TAA	T	A122743705C	BBS12	NM_152618.3(BBS12):c.1813_1814del:p.Asn605fs	coding	Pathogenic
4	122743840	TC	T	C122743841A	BBS12	NM_152618.3(BBS12):c.1949del:p.Asn649_Ser650insTer	coding	Pathogenic/Likely_pathogenic
4	122743944	TCAGA	T	A122743952T	BBS12	NM_152618.3(BBS12):c.2060_2063del:p.Asp687fs	coding	Pathogenic/Likely_pathogenic
4	122933504	CA	C	A122933507T	SPATA5	NM_145207.3(SPATA5):c.505+10del	noncoding	Benign
4	122934059	AT	A	T122934061A	SPATA5	NM_145207.3(SPATA5):c.506-36del	noncoding	Benign
4	122934184	CAG	C	G122934186T	SPATA5	NM_145207.3(SPATA5):c.595_596del:p.Asp199fs	coding	Pathogenic
4	122938157	GAT	G	A122938158G	SPATA5	NM_145207.3(SPATA5):c.1367_1368del:p.Asp456fs	coding	Pathogenic
4	122947212	AT	A	T122947216C	SPATA5	NM_145207.3(SPATA5):c.1459-17del	noncoding	Benign
4	122947380	CT	C	T122947381G	SPATA5	NM_145207.3(SPATA5):c.1607del:p.Leu536fs	coding	Pathogenic
4	123027954	GACTT	G	T123027957A	SPATA5	NM_145207.3(SPATA5):c.1870-229_1870-226del	noncoding	Benign
4	123027968	A	AT	A123027982T	SPATA5	NM_145207.3(SPATA5):c.1870-205dup	noncoding	Benign
4	123028177	A	AT	C123028183T	SPATA5	NM_145207.3(SPATA5):c.1870-4dup	noncoding	Benign
4	123028177	AT	A	T123028182C	SPATA5	NM_145207.3(SPATA5):c.1870-4del	noncoding	Benign
4	123028317	TG	T	G123028320C	SPATA5	NM_145207.3(SPATA5):c.2004del:p.Pro669fs	coding	Pathogenic
4	123056389	GC	G	C123056391T	SPATA5	NM_145207.3(SPATA5):c.2084del:p.Pro695fs	coding	Pathogenic
4	123056434	TAGAG	T	A123056437G	SPATA5	NM_145207.3(SPATA5):c.2131_2134del:p.Glu711fs	coding	Pathogenic
4	123056905	TCA	T	C123056910G	SPATA5	NM_145207.3(SPATA5):c.2134-303CA[2]	noncoding	Benign
4	123090589	GC	G	C123090590T	SPATA5	NM_145207.3(SPATA5):c.2225del:p.Ala742fs	coding	Pathogenic/Likely_pathogenic
4	123090667	AT	A	T123090671G	SPATA5	NM_145207.3(SPATA5):c.2306del:p.Leu769fs	coding	Pathogenic
4	123255715	CTA	C	A123255717T	SPATA5	NM_145207.3(SPATA5):c.2341-299_2341-298del	noncoding	Benign
4	123255715	CTAT	C	A123255717T	SPATA5	NM_145207.3(SPATA5):c.2341-299_2341-297del	noncoding	Benign
4	123255715	CTATT	C	A123255717T	SPATA5	NM_145207.3(SPATA5):c.2341-299_2341-296del	noncoding	Benign
4	123255715	CTATTT	C	A123255717T	SPATA5	NM_145207.3(SPATA5):c.2341-299_2341-295del	noncoding	Benign
4	123255716	TA	T	A123255717T	SPATA5	NM_145207.3(SPATA5):c.2341-299del	noncoding	Benign
4	123255717	AT	A	T123255741G	SPATA5	NM_145207.3(SPATA5):c.2341-275del	noncoding	Benign
4	123256035	GAATTGATAGA	G	A123256037T	SPATA5	NM_145207.3(SPATA5):c.2362_2371del:p.Ile788fs	coding	Pathogenic
4	123397832	T	TA	G123397850A	SPRY1	NM_001258038.2(SPRY1):c.-63dup	noncoding	Benign
4	125319329	TC	T	C125319332A	FAT4	NM_001291303.3(FAT4):c.2921del:p.Pro974fs	coding	Pathogenic
4	125477544	CATAT	C	A125477561G	FAT4	NM_001291303.3(FAT4):c.12479+211AT[8]	noncoding	Benign
4	125477544	CAT	C	A125477563G	FAT4	NM_001291303.3(FAT4):c.12479+211AT[9]	noncoding	Benign
4	125477561	A	ATATG	C125477566T	FAT4	NM_001291303.3(FAT4):c.12479+228_12479+231dup	noncoding	Benign
4	125477561	A	ATG	A125477563G	FAT4	NM_001291303.3(FAT4):c.12479+228_12479+229insGT	noncoding	Benign
4	125479620	CT	C	T125479622G	FAT4	NM_001291303.3(FAT4):c.12480-119del	noncoding	Benign
4	127708651	A	AAT	A127708659T	INTU	NM_015693.4(INTU):c.2358_2359dup:p.Asn787fs	coding	Pathogenic
4	127714305	TAC	T	A127714308T	INTU	NM_015693.4(INTU):c.2717+215_2717+216del	noncoding	Benign
4	127881857	TA	T	A127881860G	PLK4	NM_014264.5(PLK4):c.60del:p.Gly21fs	coding	Pathogenic
4	127881860	AG	A	G127881862A	PLK4	NM_014264.5(PLK4):c.62del:p.Gly21fs	coding	Pathogenic
4	127882995	AT	A	T127883004C	PLK4	NM_014264.5(PLK4):c.127-258del	noncoding	Benign
4	127883298	CAG	C	A127883303T	PLK4	NM_014264.5(PLK4):c.168_169del:p.Arg56fs	coding	Pathogenic
4	127883530	TGAAACCCTTCTCA	T	C127883535A	PLK4	NM_014264.5(PLK4):c.319_331del:p.Pro107fs	coding	Pathogenic
4	127883565	GT	G	T127883573G	PLK4	NM_014264.5(PLK4):c.337+20del	noncoding	Benign
4	127885688	CT	C	T127885694A	PLK4	NM_014264.5(PLK4):c.338-14del	noncoding	Benign
4	127886528	TAGTC	T	A127886533T	PLK4	NM_014264.5(PLK4):c.1163_1166del:p.Gln388fs	coding	Pathogenic
4	127886570	CT	C	T127886571C	PLK4	NM_014264.5(PLK4):c.1201del:p.Ser401fs	coding	Pathogenic
4	127887382	GT	G	T127887385G	PLK4	NM_014264.5(PLK4):c.1359-11del	noncoding	Benign
4	127892350	A	AT	C127892359T	PLK4	NM_014264.5(PLK4):c.2039-7dup	noncoding	Benign
4	127893270	A	AT	A127893283T	PLK4	NM_014264.5(PLK4):c.2189-3dup	noncoding	Benign
4	127893270	AT	A	T127893282A	PLK4	NM_014264.5(PLK4):c.2189-3del	noncoding	Benign
4	127920817	AACCAGCCCATGTATAC	A	A127920821C	MFSD8	NM_001371596.2(MFSD8):c.1354_1369del:p.Gly451_Val452insTer	coding	Pathogenic
4	127920841	TG	T	G127920846T	MFSD8	NM_001371596.2(MFSD8):c.1351-6del	noncoding	Benign
4	127921551	ATATAGAG	A	A127921557G	MFSD8	NM_001371596.2(MFSD8):c.1316_1322del:p.Thr439fs	coding	Pathogenic
4	127921644	G	GT	A127921646T	MFSD8	NM_001371596.2(MFSD8):c.1229dup:p.Tyr410Ter	coding	Pathogenic
4	127921655	A	AGG	C127921658G	MFSD8	NM_001371596.2(MFSD8):c.1217_1218dup:p.Trp407fs	coding	Pathogenic
4	127921706	GAGACTTCCAA	G	T127921711C	MFSD8	NM_001371596.2(MFSD8):c.1158_1167del:p.Trp387fs	coding	Pathogenic
4	127921753	AT	A	T127921755G	MFSD8	NM_001371596.2(MFSD8):c.1120del:p.Ile374fs	coding	Pathogenic
4	127921760	TA	T	A127921761T	MFSD8	NM_001371596.2(MFSD8):c.1113del:p.Asn371fs	coding	Pathogenic
4	127921871	AT	A	T127921875G	MFSD8	NM_001371596.2(MFSD8):c.1090del:p.Ile364fs	coding	Pathogenic
4	127930745	T	TATTA	T127930750A	MFSD8	NM_001371596.2(MFSD8):c.932_935dup:p.Leu313fs	coding	Pathogenic
4	127930802	TA	T	A127930804T	MFSD8	NM_001371596.2(MFSD8):c.878del:p.Pro292_Leu293insTer	coding	Pathogenic
4	127930822	GAAA	G	A127930830T	MFSD8	NM_001371596.2(MFSD8):c.864-8_864-6del	noncoding	Benign
4	127938592	AAAAT	A	A127938633T	MFSD8	NM_001371596.2(MFSD8):c.754+147ATTT[10]	noncoding	Benign
4	127938841	TA	T	A127938846G	MFSD8	NM_001371596.2(MFSD8):c.699-4del	noncoding	Benign
4	127939860	T	TG	C127939863G	MFSD8	NM_001371596.2(MFSD8):c.690dup:p.Ile231fs	coding	Pathogenic
4	127939956	TCA	T	A127939960C	MFSD8	NM_001371596.2(MFSD8):c.593_594del:p.Val198fs	coding	Pathogenic
4	127941916	T	TA	T127941927A	MFSD8	NM_001371596.2(MFSD8):c.553+128dup	noncoding	Benign
4	127942060	AACCTAAT	A	A127942061G	MFSD8	NM_001371596.2(MFSD8):c.531_537del:p.Gly179fs	coding	Pathogenic
4	127943827	CAT	C	T127943829G	MFSD8	NM_001371596.2(MFSD8):c.362_363del:p.Tyr121fs	coding	Pathogenic
4	127957517	CAT	C	T127957519G	MFSD8	NM_001371596.2(MFSD8):c.136_137del:p.Met46fs	coding	Pathogenic
4	127957588	ATT	A	T127957589C	MFSD8	NM_001371596.2(MFSD8):c.65_66del:p.Glu22fs	coding	Pathogenic
4	127957607	GA	G	A127957613G	MFSD8	NM_001371596.2(MFSD8):c.63-16del	noncoding	Benign/Likely_benign
4	128936729	CTG	C	G128936731T	SCLT1	NM_144643.4(SCLT1):c.1753_1754del:p.Gln585fs	coding	Pathogenic
4	128943007	C	CT	G128943016T	SCLT1	NM_144643.4(SCLT1):c.1620dup:p.Ala541fs	coding	Pathogenic
4	128948488	C	CT	A128948494T	SCLT1	NM_144643.4(SCLT1):c.1293+3dup	noncoding	Benign
4	128948527	TC	T	C128948529T	SCLT1	NM_144643.4(SCLT1):c.1261del:p.Glu421fs	coding	Pathogenic
4	128992188	TC	T	C128992189G	SCLT1	NM_144643.4(SCLT1):c.664del:p.Glu222fs	coding	Pathogenic
4	128992192	T	TA	T128992193A	SCLT1	NM_144643.4(SCLT1):c.660_661insT:p.Ile221fs	coding	Pathogenic
4	128992247	GA	G	A128992256G	SCLT1	NM_144643.4(SCLT1):c.616-11del	noncoding	Benign
4	128992247	G	GA	G128992257A	SCLT1	NM_144643.4(SCLT1):c.616-11dup	noncoding	Benign
4	128999805	AG	A	G128999806T	SCLT1	NM_144643.4(SCLT1):c.427-12del	noncoding	Benign
4	129043469	T	TA	G129043477A	SCLT1	NM_144643.4(SCLT1):c.162-3dup	noncoding	Benign
4	129093080	CAGAA	C	A129093083T	SCLT1	NM_144643.4(SCLT1):c.20_23del:p.Asp6_Phe7insTer	coding	Pathogenic
4	139334493	GA	G	A139334496T	NAA15	NM_057175.5(NAA15):c.139+238del	noncoding	Benign
4	139342855	AC	A	C139342857T	NAA15	NM_057175.5(NAA15):c.434del:p.Pro145fs	coding	Pathogenic
4	139349459	CA	C	A139349460G	NAA15	NM_057175.5(NAA15):c.692-2del	noncoding	Pathogenic
4	139349459	CAG	C	A139349460G	NAA15	NM_057175.5(NAA15):c.692-2_692-1del	noncoding	Pathogenic
4	139354059	GA	G	A139354062C	NAA15	NM_057175.5(NAA15):c.1051del:p.Thr351fs	coding	Pathogenic
4	139361808	TTAA	AT	T139361808A	NAA15	NM_057175.5(NAA15):c.1624_1627delinsAT:p.Leu542fs	coding	Pathogenic
4	139361903	T	TA	C139361905A	NAA15	NM_057175.5(NAA15):c.1720dup:p.Thr574fs	coding	Pathogenic
4	139361948	CA	C	A139361949G	NAA15	NM_057175.5(NAA15):c.1753+12del	noncoding	Benign
4	139370290	G	GA	T139370299A	NAA15	NM_057175.5(NAA15):c.1841dup:p.Asn614fs	coding	Pathogenic/Likely_pathogenic
4	139386148	ATTACTTAGATCCT	A	T139386150C	NAA15	NM_057175.5(NAA15):c.2320_2332del:p.Tyr774fs	coding	Pathogenic
4	139454379	AC	A	C139454381G	RAB33B	NM_031296.3(RAB33B):c.186del:p.Glu63fs	coding	Pathogenic/Likely_pathogenic
4	139454379	ACCGAGGC	A	C139454381A	RAB33B	NM_031296.3(RAB33B):c.186_192del:p.Glu63fs	coding	Pathogenic
4	139454391	ATAG	A	T139454392G	RAB33B	NM_031296.3(RAB33B):c.197_199del:p.Ile66_Gly67delinsArg	coding	Pathogenic
4	140563611	AT	A	T140563625G	UCP1	NM_021833.5(UCP1):c.326-94del	noncoding	Benign
4	143336748	TTGTGTGTG	T	T143336773A	GAB1	Single_allele	noncoding	Benign
4	143336748	TTG	T	T143336779A	GAB1	Single_allele	noncoding	Benign
4	143336748	T	TTG	A143336781T	GAB1	Single_allele	noncoding	Benign
4	143336748	T	TTGTG	A143336781T	GAB1	Single_allele	noncoding	Benign
4	143336748	T	TTGTGTG	A143336781T	GAB1	Single_allele	noncoding	Benign
4	143336748	T	TTGTGTGTG	A143336781T	GAB1	Single_allele	noncoding	Benign
4	143415931	T	TG	A143415936G	GAB1	NM_002039.4(GAB1):c.367+164dup	noncoding	Benign
4	143457595	CT	C	T143457615A	GAB1	NM_002039.4(GAB1):c.1586-1770del	noncoding	Benign
4	143457595	CTT	C	T143457614A	GAB1	NM_002039.4(GAB1):c.1586-1771_1586-1770del	noncoding	Benign
4	145515134	C	CTG	C145515178G	SMAD1	NM_005900.3(SMAD1):c.400+122TG[22]	noncoding	Benign
4	145515134	C	CTGTG	C145515178G	SMAD1	NM_005900.3(SMAD1):c.400+122TG[23]	noncoding	Benign
4	145515134	C	CTGTGTG	C145515178G	SMAD1	NM_005900.3(SMAD1):c.400+122TG[24]	noncoding	Benign
4	145515134	CTG	C	G145515176C	SMAD1	NM_005900.3(SMAD1):c.400+122TG[20]	noncoding	Benign
4	145515134	CTGTG	C	G145515174C	SMAD1	NM_005900.3(SMAD1):c.400+122TG[19]	noncoding	Benign
4	145515134	CTGTGTGTG	C	G145515170C	SMAD1	NM_005900.3(SMAD1):c.400+122TG[17]	noncoding	Benign
4	145554091	CT	C	T145554108G	SMAD1	NM_005900.3(SMAD1):c.1254+68del	noncoding	Benign
4	145554091	CTT	C	T145554107G	SMAD1	NM_005900.3(SMAD1):c.1254+67_1254+68del	noncoding	Benign
4	145558079	C	CA	C145558095A	SMAD1	NM_005900.3(SMAD1):c.*160dup	noncoding	Benign
4	145558094	AC	A	C145558095A	SMAD1	NM_005900.3(SMAD1):c.*161del	noncoding	Benign
4	145639265	G	GCCGTTTAA	T145639274C	MMAA	NM_172250.3(MMAA):c.127_134dup:p.Ser46fs	coding	Pathogenic
4	145639399	A	AATAAACTT	T145639400A	MMAA	NM_172250.3(MMAA):c.260_261insATAAACTT:p.Asp87delinsGluTer	coding	Pathogenic
4	145639546	CAAAT	C	T145639550G	MMAA	NM_172250.3(MMAA):c.411_414del:p.Asn137fs	coding	Pathogenic/Likely_pathogenic
4	145642387	G	GA	T145642392A	MMAA	NM_172250.3(MMAA):c.468dup:p.Ser157fs	coding	Pathogenic
4	145646061	CT	C	T145646062A	MMAA	NM_172250.3(MMAA):c.639del:p.Arg214fs	coding	Pathogenic
4	145651083	CT	C	T145651084G	MMAA	NM_172250.3(MMAA):c.756del:p.Val253fs	coding	Pathogenic
4	145651121	C	CCA	C145651125A	MMAA	NM_172250.3(MMAA):c.795_796dup:p.Pro266fs	coding	Pathogenic
4	147535853	C	CT	C147535867T	EDNRA	NM_001957.4(EDNRA):c.748-11dup	noncoding	Benign
4	147535853	CT	C	T147535866C	EDNRA	NM_001957.4(EDNRA):c.748-11del	noncoding	Benign
4	147535857	T	TTC	T147535859C	EDNRA	NM_001957.4(EDNRA):c.748-19_748-18insCT	noncoding	Benign
4	148260056	C	AA	C148260056A	NR3C2	NM_000901.5(NR3C2):c.1819delinsTT:p.Gly607fs	coding	Pathogenic
4	148435485	GA	G	A148435490T	NR3C2	NM_000901.5(NR3C2):c.1375del:p.Ser459fs	coding	Pathogenic
4	148435856	GC	G	C148435857T	NR3C2	NM_000901.5(NR3C2):c.1004del:p.Ser335fs	coding	Pathogenic
4	148436538	TATAAACCC	T	A148436541G	NR3C2	NM_000901.5(NR3C2):c.315_322del:p.Met105fs	coding	Pathogenic
4	150265859	A	AGAGAT	T150265866A	LRBA	NM_001364905.1(LRBA):c.8469-52_8469-48dup	noncoding	Benign
4	150286041	G	GA	C150286048A	LRBA	NM_001364905.1(LRBA):c.8018-13dup	noncoding	Benign
4	150297144	CATATTT	C	T150297149G	LRBA	NM_001364905.1(LRBA):c.8017+5475_8017+5480del	noncoding	Benign
4	150302713	AT	A	T150302716C	LRBA	NM_001364905.1(LRBA):c.7928del:p.Asn2643fs	coding	Pathogenic
4	150415183	C	CTTAA	A150415188T	LRBA	NM_001364905.1(LRBA):c.7194+251_7194+254dup	noncoding	Benign
4	150435573	CA	C	A150435577C	LRBA	NM_001364905.1(LRBA):c.7041+15del	noncoding	Benign
4	150436815	TA	T	A150436817C	LRBA	NM_001364905.1(LRBA):c.6829del:p.Tyr2277fs	coding	Pathogenic
4	150487600	CAG	C	G150487602A	LRBA	NM_001364905.1(LRBA):c.6551+130_6551+131del	noncoding	Benign
4	150487730	AC	A	C150487732T	LRBA	NM_001364905.1(LRBA):c.6551+1del	noncoding	Pathogenic
4	150588058	AT	A	T150588065G	LRBA	NM_001364905.1(LRBA):c.6319del:p.Ile2107fs	coding	Pathogenic
4	150588108	GG	TT	G150588108T	LRBA	NM_001364905.1(LRBA):c.6269_6270delinsAA:p.Ser2090Ter	coding	Pathogenic
4	150588142	GA	G	A150588143G	LRBA	NM_001364905.1(LRBA):c.6235del:p.Ser2079fs	coding	Pathogenic
4	150683726	G	GA	T150683736A	LRBA	NM_001364905.1(LRBA):c.5755-10dup	noncoding	Benign
4	150761851	TA	T	A150761861G	LRBA	NM_001364905.1(LRBA):c.5581-5del	noncoding	Benign
4	150806020	CAA	C	A150806033G	LRBA	NM_001364905.1(LRBA):c.5518+249_5518+250del	noncoding	Benign
4	150806020	CA	C	A150806034G	LRBA	NM_001364905.1(LRBA):c.5518+250del	noncoding	Benign
4	150828198	T	TGCACGGGTTGTTCCACAGATAGATCACC	A150828227G	LRBA	NM_001364905.1(LRBA):c.5125_5152dup:p.Gln1718delinsArgTer	coding	Pathogenic
4	150828283	CTGGTATGT	C	G150828285A	LRBA	NM_001364905.1(LRBA):c.5060_5067del:p.Asn1687fs	coding	Pathogenic
4	150831981	G	GA	T150831990A	LRBA	NM_001364905.1(LRBA):c.4570-13dup	noncoding	Benign
4	150844219	TA	T	A150844228T	LRBA	NM_001364905.1(LRBA):c.4462-13del	noncoding	Benign
4	150848562	GAAA	G	A150848578G	LRBA	NM_001364905.1(LRBA):c.4339+253_4339+255del	noncoding	Benign
4	150848562	GA	G	A150848580G	LRBA	NM_001364905.1(LRBA):c.4339+255del	noncoding	Benign
4	150852870	ATTTC	A	T150852873C	LRBA	NM_001364905.1(LRBA):c.2836_2839del:p.Glu945_Glu946insTer	coding	Pathogenic
4	150867822	GA	G	A150867825G	LRBA	NM_001364905.1(LRBA):c.2614del:p.Ser872fs	coding	Pathogenic
4	150870616	TA	T	A150870620C	LRBA	NM_001364905.1(LRBA):c.2368-11del	noncoding	Benign
4	150905895	CT	C	T150905897G	LRBA	NM_001364905.1(LRBA):c.1697del:p.Lys566fs	coding	Pathogenic
4	150914093	CT	C	T150914105G	LRBA	NM_001364905.1(LRBA):c.1161+101del	noncoding	Benign
4	150915737	C	CA	C150915744A	LRBA	NM_001364905.1(LRBA):c.895-11dup	noncoding	Benign
4	150916401	CT	C	T150916405G	LRBA	NM_001364905.1(LRBA):c.893del:p.Lys298fs	coding	Pathogenic
4	150928530	CT	C	T150928531C	LRBA	NM_001364905.1(LRBA):c.534del:p.Asp179fs	coding	Pathogenic
4	150928576	AT	A	T150928578A	LRBA	NM_001364905.1(LRBA):c.488del:p.Asn163fs	coding	Pathogenic
4	150928821	G	GA	T150928828A	LRBA	NM_001364905.1(LRBA):c.448+12dup	noncoding	Benign
4	150929074	GA	G	A150929086C	LRBA	NM_001364905.1(LRBA):c.217-10del	noncoding	Benign
4	150929074	G	GA	C150929087A	LRBA	NM_001364905.1(LRBA):c.217-21dup	noncoding	Benign
4	151671317	A	ATTAC	A151671329C	GATB	NM_004564.3(GATB):c.1546-23GTAA[3]	noncoding	Benign
4	151688768	TA	T	A151688781G	GATB	NM_004564.3(GATB):c.1198-6del	noncoding	Benign
4	151688846	C	CA	C151688847A	GATB	NM_004564.3(GATB):c.1198-84_1198-83insT	noncoding	Benign
4	151704080	C	CT	A151704097T	GATB	NM_004564.3(GATB):c.963-201dup	noncoding	Benign
4	151704080	CT	C	T151704096A	GATB	NM_004564.3(GATB):c.963-186del	noncoding	Benign
4	151705363	TA	T	A151705377T	GATB	NM_004564.3(GATB):c.878-95del	noncoding	Benign
4	152324324	TTC	T	T152324325C	FBXW7	NM_001349798.2(FBXW7):c.1713_1714del:p.Asn572fs	coding	Pathogenic
4	152411547	GA	G	A152411550T	FBXW7	NM_001349798.2(FBXW7):c.256del:p.Ser86fs	coding	Pathogenic
4	153276421	AT	A	T153276424A	TRIM2	NM_015271.5(TRIM2):c.453+294del	noncoding	Benign
4	153294127	C	CA	T153294132A	TRIM2	NM_015271.5(TRIM2):c.606-174dup	noncoding	Benign
4	153335271	T	TA	C153335278A	TRIM2	NM_015271.5(TRIM2):c.*311dup	noncoding	Benign
4	154568682	C	CAA	T154568697A	FGB	NM_005141.5(FGB):c.832+201_832+202dup	noncoding	Benign
4	154568682	C	CA	T154568697A	FGB	NM_005141.5(FGB):c.832+202dup	noncoding	Benign
4	154568700	CAAAA	C	A154568712T	FGB	NM_005141.5(FGB):c.832+218_832+221del	noncoding	Benign
4	154568700	CA	C	A154568715T	FGB	NM_005141.5(FGB):c.832+221del	noncoding	Benign
4	154584282	CTGCTTGGCAGTT	C	T154584283A	FGA	NM_000508.5(FGA):c.2431_2442del:p.Asn811_Ala814del	coding	Pathogenic
4	154584569	TG	T	G154584572T	FGA	NM_000508.5(FGA):c.2155del:p.Gln719fs	coding	Pathogenic
4	154584821	ACAT	A	T154584827C	FGA	NM_000508.5(FGA):c.1898ATG[1]:p.Asp634del	coding	Pathogenic
4	154585775	CA	C	A154585776G	FGA	NM_021871.4(FGA):c.1653del:p.Gly552fs	coding	Pathogenic
4	154586752	ATT	A	T154586756A	FGA	NM_021871.4(FGA):c.675_676del:p.Lys225fs	coding	Pathogenic
4	154587745	GAGAAAGAA	G	A154587797G	FGA	NM_021871.4(FGA):c.365-144TTCT[12]	noncoding	Benign
4	154587745	GAGAA	G	A154587801G	FGA	NM_021871.4(FGA):c.365-144TTCT[13]	noncoding	Benign
4	154587745	G	GAGAAAGAAAGAA	G154587805A	FGA	NM_021871.4(FGA):c.365-144TTCT[17]	noncoding	Benign
4	154587745	G	GAGAAAGAA	G154587805A	FGA	NM_021871.4(FGA):c.365-144TTCT[16]	noncoding	Benign
4	154587745	G	GAGAA	G154587805A	FGA	NM_021871.4(FGA):c.365-144TTCT[15]	noncoding	Benign
4	154589499	CA	C	A154589501C	FGA	NM_021871.4(FGA):c.117del:p.Val40fs	coding	Pathogenic/Likely_pathogenic
4	154609741	CT	C	T154609743A	FGG	NM_021870.3(FGG):c.554del:p.Lys185fs	coding	Pathogenic
4	154612116	T	TCC	A154612119C	FGG	NM_021870.3(FGG):c.207_208dup:p.Glu70fs	coding	Pathogenic
4	154744334	AC	A	C154744338A	LRAT	NM_004744.5(LRAT):c.12del:p.Met5fs	coding	Pathogenic
4	154744481	A	AGGT	C154744486G	LRAT	NM_004744.5(LRAT):c.157_159dup:p.Val53dup	coding	Pathogenic
4	154744635	CA	C	A154744638G	LRAT	NM_004744.5(LRAT):c.312del:p.Val105fs	coding	Pathogenic
4	157120433	G	GA	G157120439A	GLRB	NM_000824.5(GLRB):c.123-118dup	noncoding	Benign
4	157122130	TG	T	G157122131C	GLRB	NM_000824.5(GLRB):c.230-199del	noncoding	Benign
4	157136538	AG	A	G157136542T	GLRB	NM_000824.5(GLRB):c.371del:p.Gly124fs	coding	Pathogenic
4	157139121	GT	G	T157139127G	GLRB	NM_000824.5(GLRB):c.751+178del	noncoding	Benign
4	157303579	AT	A	T157303580G	GRIA2	NM_001083619.3(GRIA2):c.258del:p.Val85_Tyr86insTer	coding	Pathogenic
4	157312714	GC	G	C157312715T	GRIA2	NM_001083619.3(GRIA2):c.506del:p.Ala169fs	coding	Pathogenic
4	158680467	CA	C	A158680468T	ETFDH	NM_004453.4(ETFDH):c.36del:p.Tyr13fs	coding	Pathogenic
4	158680486	CT	C	T158680488A	ETFDH	NM_004453.4(ETFDH):c.56del:p.Ala18_Leu19insTer	coding	Pathogenic
4	158680498	G	GA	T158680504A	ETFDH	NM_004453.4(ETFDH):c.71dup:p.Asn24fs	coding	Pathogenic
4	158680594	CAA	C	A158680595G	ETFDH	NM_004453.4(ETFDH):c.163_164del:p.Lys55fs	coding	Pathogenic
4	158680606	AG	A	G158680608T	ETFDH	NM_004453.4(ETFDH):c.175+1del	coding	Pathogenic/Likely_pathogenic
4	158682402	TC	T	C158682405A	ETFDH	NM_004453.4(ETFDH):c.386del:p.Pro129fs	coding	Pathogenic
4	158682413	AAAGAG	A	A158682417G	ETFDH	NM_004453.4(ETFDH):c.398_402del:p.Glu133fs	coding	Pathogenic
4	158684389	CA	C	A158684407G	ETFDH	NM_004453.4(ETFDH):c.406-185del	noncoding	Benign
4	158684595	CCA	C	A158684597T	ETFDH	NM_004453.4(ETFDH):c.411_412del:p.Pro137_Leu138insTer	coding	Pathogenic
4	158684612	AACAGAAG	A	A158684618T	ETFDH	NM_004453.4(ETFDH):c.432_438del:p.Glu144fs	coding	Pathogenic
4	158685193	G	GTA	C158685198T	ETFDH	NM_004453.4(ETFDH):c.583_584dup:p.Pro196fs	coding	Pathogenic
4	158697543	C	CT	A158697557T	ETFDH	NM_004453.4(ETFDH):c.832-3dup	noncoding	Benign
4	158699022	AT	A	T158699025A	ETFDH	NM_004453.4(ETFDH):c.1011del:p.Phe337fs	coding	Pathogenic
4	158699074	GA	G	A158699076G	ETFDH	NM_004453.4(ETFDH):c.1062del:p.Gly355fs	coding	Pathogenic
4	158703438	AC	A	C158703440T	ETFDH	NM_004453.4(ETFDH):c.1134del:p.Pro380fs	coding	Pathogenic
4	158703438	ACCTTT	A	T158703442G	ETFDH	NM_004453.4(ETFDH):c.1136_1140del:p.Phe379fs	coding	Pathogenic
4	158703555	CAACT	C	A158703561G	ETFDH	NM_004453.4(ETFDH):c.1255_1258del:p.Thr419fs	coding	Pathogenic/Likely_pathogenic
4	158706200	A	AT	C158706201T	ETFDH	NM_004453.4(ETFDH):c.1297_1298insT:p.Thr433fs	coding	Pathogenic
4	158706365	CAT	C	T158706367A	ETFDH	NM_004453.4(ETFDH):c.1464_1465del:p.His488fs	coding	Pathogenic
4	158706671	C	CT	A158706673T	ETFDH	NM_004453.4(ETFDH):c.1512dup:p.Ile505fs	coding	Pathogenic
4	158706782	AT	A	T158706783G	ETFDH	NM_004453.4(ETFDH):c.1623del:p.Asp541fs	coding	Pathogenic
4	158706788	G	GT	A158706790T	ETFDH	NM_004453.4(ETFDH):c.1629dup:p.Ile544fs	coding	Pathogenic
4	158706790	A	AT	A158706792T	ETFDH	NM_004453.4(ETFDH):c.1631dup:p.Pro545fs	coding	Pathogenic
4	158706808	CTG	C	G158706810C	ETFDH	NM_004453.4(ETFDH):c.1650_1651del:p.Ser551fs	coding	Pathogenic
4	158707038	C	CA	G158707054A	ETFDH	NM_004453.4(ETFDH):c.1690+203dup	noncoding	Benign
4	158708415	TA	T	A158708418T	ETFDH	NM_004453.4(ETFDH):c.1745del:p.Asn582fs	coding	Pathogenic
4	158708445	CAT	C	A158708446G	ETFDH	NM_004453.4(ETFDH):c.1773_1774del:p.Thr591_Cys592insTer	coding	Pathogenic/Likely_pathogenic
4	159330265	A	ATG	A159330297G	RAPGEF2	NM_001394067.2(RAPGEF2):c.1303-68TG[16]	noncoding	Benign
4	159330265	A	ATGTG	A159330297G	RAPGEF2	NM_001394067.2(RAPGEF2):c.1303-68TG[17]	noncoding	Benign
4	159350116	GT	G	T159350127C	RAPGEF2	NM_001394067.2(RAPGEF2):c.3713-10del	noncoding	Benign
4	165338637	A	AT	A165338643T	MSMO1	NM_006745.5(MSMO1):c.405-10dup	noncoding	Benign
4	165341543	G	GA	T165341544A	MSMO1	NM_006745.5(MSMO1):c.687-208_687-207insA	noncoding	Benign
4	165379289	TGGGCGCCGAAGCCCAGGAGCCCG	T	G165379297C	CPE	NM_001873.4(CPE):c.76_98del:p.Glu26fs	coding	Pathogenic
4	165467673	C	CT	A165467686T	CPE	NM_001873.4(CPE):c.505-3dup	noncoding	Benign
4	166057387	CT	C	T166057388C	TLL1	NM_012464.5(TLL1):c.1846+79del	noncoding	Benign
4	166090985	C	CAT	C166090986A	TLL1	NM_012464.5(TLL1):c.2443-143_2443-142insAT	noncoding	Benign
4	166091098	T	TAA	T166091106A	TLL1	NM_012464.5(TLL1):c.2443-24_2443-23dup	noncoding	Benign
4	166099626	C	CA	G166099643A	TLL1	NM_012464.5(TLL1):c.2907+115dup	noncoding	Benign
4	168497248	TA	T	A168497261C	PALLD	NM_001166108.2(PALLD):c.-83+67del	noncoding	Benign
4	168511112	C	CA	T168511115A	PALLD	NM_001166108.2(PALLD):c.-82-309dup	noncoding	Benign
4	168511315	CTT	C	T168511316A	PALLD	NM_001166108.2(PALLD):c.-82-107_-82-106del	noncoding	Benign
4	168512175	TG	CA	T168512175C	PALLD	NM_001166108.2(PALLD):c.671_672inv:p.Met224Thr	coding	Benign
4	168682929	T	TA	C168682942A	PALLD	NM_001166108.2(PALLD):c.1155-57dup	noncoding	Benign
4	168878220	T	TGCC	A168878230G	PALLD	NM_001166108.2(PALLD):c.1965-12701GCC[4]	coding	Benign
4	168878681	A	AT	G168878683T	PALLD	NM_001166108.2(PALLD):c.1965-12240dup	noncoding	Benign
4	168878682	TG	T	G168878693T	PALLD	NM_001166108.2(PALLD):c.1965-12229del	noncoding	Benign
4	168878682	T	TG	T168878694G	PALLD	NM_001166108.2(PALLD):c.1965-12229dup	noncoding	Benign
4	168878682	T	TTG	G168878683T	PALLD	NM_001166108.2(PALLD):c.1965-12240_1965-12239insTG	noncoding	Benign
4	168921406	CA	C	A168921426G	PALLD	NM_001166108.2(PALLD):c.2851-108del	noncoding	Benign
4	168921406	C	CA	G168921427A	PALLD	NM_001166108.2(PALLD):c.2851-108dup	noncoding	Benign
4	168925964	TA	T	A168925976G	PALLD	NM_001166108.2(PALLD):c.*33-237del	noncoding	Benign
4	169394536	G	GA	T169394544A	NEK1	NM_001199397.3(NEK1):c.3848-14dup	noncoding	Benign
4	169400920	TA	T	A169400932G	NEK1	NM_001199397.3(NEK1):c.3584-270del	noncoding	Benign
4	169400920	T	TA	G169400933A	NEK1	NM_001199397.3(NEK1):c.3584-281dup	noncoding	Benign
4	169424783	A	AC	A169424784C	NEK1	NM_001199397.3(NEK1):c.2991_2992insG:p.Ser998fs	coding	Pathogenic
4	169426146	CTA	C	A169426150G	NEK1	NM_001199397.3(NEK1):c.2972_2973del:p.Ile991fs	coding	Pathogenic
4	169506935	GA	G	A169506945G	NEK1	NM_001199397.3(NEK1):c.2007+101del	noncoding	Benign
4	169507059	T	TC	T169507061C	NEK1	NM_001199397.3(NEK1):c.1984dup:p.Glu662fs	coding	Pathogenic
4	169507183	G	GT	G169507201T	NEK1	NM_001199397.3(NEK1):c.1912-68dup	noncoding	Benign
4	169507200	TGG	T	G169507202C	NEK1	NM_001199397.3(NEK1):c.1912-70_1912-69del	noncoding	Benign
4	169507200	TG	T	G169507203C	NEK1	NM_001199397.3(NEK1):c.1912-69del	noncoding	Benign
4	169507202	G	GTTT	G169507203T	NEK1	NM_001199397.3(NEK1):c.1912-71_1912-70insAAA	noncoding	Benign
4	169561992	GT	G	T169562002A	NEK1	NM_001199397.3(NEK1):c.1081-102del	noncoding	Benign
4	169561992	GTT	G	T169562001A	NEK1	NM_001199397.3(NEK1):c.1081-103_1081-102del	noncoding	Benign
4	169562332	TA	T	A169562343T	NEK1	NM_001199397.3(NEK1):c.1021-137del	noncoding	Benign
4	169562332	T	TA	T169562344A	NEK1	NM_001199397.3(NEK1):c.1021-147dup	noncoding	Benign
4	169576963	AT	A	T169576969A	NEK1	NM_001199397.3(NEK1):c.984del:p.Lys328fs	coding	Pathogenic
4	169577013	GC	G	C169577014A	NEK1	NM_001199397.3(NEK1):c.934del:p.Ala312fs	coding	Pathogenic
4	169577318	T	TA	T169577330A	NEK1	NM_001199397.3(NEK1):c.869-250dup	noncoding	Benign
4	169577328	A	AATC	C169577332A	NEK1	NM_001199397.3(NEK1):c.869-252_869-250dup	noncoding	Benign
4	169587562	AT	A	T169587563G	NEK1	NM_001199397.3(NEK1):c.602del:p.His201fs	coding	Pathogenic
4	169589528	GA	G	A169589539C	NEK1	NM_001199397.3(NEK1):c.397-15del	noncoding	Benign/Likely_benign
4	169602008	CT	C	T169602010C	NEK1	NM_001199397.3(NEK1):c.213del:p.Glu72fs	coding	Pathogenic
4	169602425	CT	C	T169602439A	NEK1	NM_001199397.3(NEK1):c.117+88del	noncoding	Benign
4	169687668	AAAAG	A	A169687675T	CLCN3	NM_001829.4(CLCN3):c.336_339del:p.Lys112fs	coding	Pathogenic
4	174522273	C	CT	G174522275T	HPGD	NM_000860.6(HPGD):c.93+85dup	noncoding	Benign
4	176727658	T	TAA	G176727659A	VEGFC	NM_005429.5(VEGFC):c.552+119_552+120insTT	noncoding	Benign
4	176729460	T	TA	G176729464A	VEGFC	NM_005429.5(VEGFC):c.361+70dup	noncoding	Benign
4	176792218	A	AGGC	G176792236C	VEGFC	NM_005429.5(VEGFC):c.79GCC[6]:p.Ala31dup	coding	Benign
4	177433358	C	CA	G177433360A	AGA	NM_000027.4(AGA):c.807-12dup	noncoding	Benign
4	177436274	AC	A	C177436277A	AGA	NM_000027.4(AGA):c.698+1del	noncoding	Pathogenic
4	177436360	T	TA	T177436373A	AGA	NM_000027.4(AGA):c.623-21dup	noncoding	Benign
4	177436412	A	ATAATTG	A177436419T	AGA	NM_000027.4(AGA):c.623-67_623-62dup	noncoding	Benign
4	177437507	C	CT	G177437509T	AGA	NM_000027.4(AGA):c.519dup:p.Asp174fs	coding	Pathogenic
4	177437517	A	AT	C177437520T	AGA	NM_000027.4(AGA):c.509dup:p.Asn170fs	coding	Pathogenic
4	177439555	TCA	T	C177439556G	AGA	NM_000027.4(AGA):c.394+19_394+20del	noncoding	Benign/Likely_benign
4	177439565	T	TA	T177439573A	AGA	NM_000027.4(AGA):c.394+10dup	noncoding	Benign
4	177439863	GA	G	A177439871T	AGA	NM_000027.4(AGA):c.282-176del	noncoding	Benign
4	177440285	A	AT	G177440287T	AGA	NM_000027.4(AGA):c.268dup:p.Met90fs	coding	Pathogenic
4	177440361	CA	C	A177440362C	AGA	NM_000027.4(AGA):c.192del:p.Cys64fs	coding	Pathogenic/Likely_pathogenic
4	177440366	A	AT	G177440368T	AGA	NM_000027.4(AGA):c.187dup:p.Met63fs	coding	Pathogenic
4	177440651	G	GTT	C177440665T	AGA	NM_000027.4(AGA):c.128-238_128-237dup	noncoding	Benign
4	177440651	GT	G	T177440664C	AGA	NM_000027.4(AGA):c.128-226del	noncoding	Benign
4	182346575	TA	T	A182346589G	TENM3	NM_001080477.4(TENM3):c.233-62del	noncoding	Benign
4	182346995	C	CG	A182347004G	TENM3	NM_001080477.4(TENM3):c.511+74dup	noncoding	Benign
4	182346995	C	CGG	A182347004G	TENM3	NM_001080477.4(TENM3):c.511+73_511+74dup	noncoding	Benign
4	182347120	G	GA	T182347130A	TENM3	NM_001080477.4(TENM3):c.511+200dup	noncoding	Benign
4	182600868	C	CAT	A182600884T	TENM3	NM_001080477.4(TENM3):c.512-55AT[8]	noncoding	Benign
4	182600868	C	CATAT	A182600884T	TENM3	NM_001080477.4(TENM3):c.512-55AT[9]	noncoding	Benign
4	182600897	C	CT	C182600921T	TENM3	NM_001080477.4(TENM3):c.512-4dup	noncoding	Benign
4	182600897	CT	C	T182600920C	TENM3	NM_001080477.4(TENM3):c.512-4del	noncoding	Benign
4	182600897	CTT	C	T182600919C	TENM3	NM_001080477.4(TENM3):c.512-5_512-4del	noncoding	Benign
4	182601256	TTTG	T	T182601267G	TENM3	NM_001080477.4(TENM3):c.749+96TTG[3]	noncoding	Benign
4	182601438	CAA	C	A182601440T	TENM3	NM_001080477.4(TENM3):c.749+279_749+280del	noncoding	Benign
4	182680437	A	AG	A182680447G	TENM3	NM_001080477.4(TENM3):c.1639+97dup	noncoding	Benign
4	182680442	G	GT	G182680443T	TENM3	NM_001080477.4(TENM3):c.1639+93_1639+94insT	noncoding	Benign
4	182714315	CAAA	C	A182714337C	TENM3	NM_001080477.4(TENM3):c.2368+104_2368+106del	noncoding	Benign
4	182714315	CAA	C	A182714338C	TENM3	NM_001080477.4(TENM3):c.2368+105_2368+106del	noncoding	Benign
4	182714315	CA	C	A182714339C	TENM3	NM_001080477.4(TENM3):c.2368+106del	noncoding	Benign
4	182728873	GAA	G	A182728885C	TENM3	NM_001080477.4(TENM3):c.2369-80_2369-79del	noncoding	Benign
4	182728873	GA	G	A182728886C	TENM3	NM_001080477.4(TENM3):c.2369-79del	noncoding	Benign
4	182752073	T	TAA	G182752089A	TENM3	NM_001080477.4(TENM3):c.3862+55_3862+56dup	noncoding	Benign
4	182752073	T	TA	G182752089A	TENM3	NM_001080477.4(TENM3):c.3862+56dup	noncoding	Benign
4	182752133	T	TCTAA	T182752140A	TENM3	NM_001080477.4(TENM3):c.3862+104_3862+107dup	noncoding	Benign
4	182752301	CAACT	C	A182752307C	TENM3	NM_001080477.4(TENM3):c.3862+275_3862+278del	noncoding	Benign
4	182800596	G	GA	T182800606A	TENM3	NM_001080477.4(TENM3):c.*254dup	noncoding	Benign
4	183664114	CTA	C	A183664116G	TRAPPC11	NM_021942.6(TRAPPC11):c.204+45_204+46del	noncoding	Benign
4	183666505	G	GTACC	G183666510T	TRAPPC11	NM_021942.6(TRAPPC11):c.374+80_374+83dup	noncoding	Benign
4	183668067	GTCTT	G	C183668069G	TRAPPC11	NM_021942.6(TRAPPC11):c.512_515del:p.Ser171fs	coding	Pathogenic/Likely_pathogenic
4	183668069	CTTTG	C	T183668075A	TRAPPC11	NM_021942.6(TRAPPC11):c.518_521del:p.Phe173fs	coding	Pathogenic
4	183668342	A	AT	G183668343T	TRAPPC11	NM_021942.6(TRAPPC11):c.560+225_560+226insT	noncoding	Benign
4	183674420	CA	C	A183674445G	TRAPPC11	NM_021942.6(TRAPPC11):c.561-268del	noncoding	Benign
4	183674780	CAT	C	T183674782A	TRAPPC11	NM_021942.6(TRAPPC11):c.630_631del:p.His210fs	coding	Pathogenic
4	183675144	AT	A	T183675151G	TRAPPC11	NM_021942.6(TRAPPC11):c.661-13del	noncoding	Benign
4	183684147	GATAATCA	G	A183684148T	TRAPPC11	NM_021942.6(TRAPPC11):c.1291_1297del:p.Glu430_Ile431insTer	coding	Pathogenic
4	183693631	T	TG	A183693633G	TRAPPC11	NM_021942.6(TRAPPC11):c.2281dup:p.Glu761fs	coding	Pathogenic
4	183694362	CAAT	C	A183694366T	TRAPPC11	NM_021942.6(TRAPPC11):c.2509-238_2509-236del	noncoding	Benign
4	183694673	CT	C	T183694674G	TRAPPC11	NM_021942.6(TRAPPC11):c.2579del:p.Leu860fs	coding	Pathogenic
4	183694719	AC	A	C183694720A	TRAPPC11	NM_021942.6(TRAPPC11):c.2625del:p.His875fs	coding	Pathogenic
4	183694795	TATAAAATAAGC	T	T183694808G	TRAPPC11	NM_021942.6(TRAPPC11):c.2628+85_2628+95del	noncoding	Benign
4	183697316	G	GA	G183697317A	TRAPPC11	NM_021942.6(TRAPPC11):c.2629-187_2629-186insA	noncoding	Benign
4	183697876	TGC	T	C183697882T	TRAPPC11	NM_021942.6(TRAPPC11):c.2851+42GC[2]	noncoding	Benign
4	183706921	TGTTCTCAG	T	T183706924C	TRAPPC11	NM_021942.6(TRAPPC11):c.3173_3180del:p.Phe1058fs	coding	Pathogenic
4	183707252	T	TTGTGTGTG	A183707254G	TRAPPC11	NM_021942.6(TRAPPC11):c.3189+313_3189+314insGTGTGTGT	noncoding	Benign
4	183707254	A	ATG	A183707283T	TRAPPC11	NM_021942.6(TRAPPC11):c.3189+315TG[15]	noncoding	Benign
4	183707254	A	ATGTG	A183707283T	TRAPPC11	NM_021942.6(TRAPPC11):c.3189+315TG[16]	noncoding	Benign
4	183707254	A	ATGTGTG	A183707283T	TRAPPC11	NM_021942.6(TRAPPC11):c.3189+315TG[17]	noncoding	Benign
4	183707254	A	ATGTGTGTG	A183707283T	TRAPPC11	NM_021942.6(TRAPPC11):c.3189+315TG[18]	noncoding	Benign
4	183707254	A	ATGTGTGTGTG	A183707283T	TRAPPC11	NM_021942.6(TRAPPC11):c.3189+315TG[19]	noncoding	Benign
4	183707254	ATG	A	T183707281A	TRAPPC11	NM_021942.6(TRAPPC11):c.3189+315TG[13]	noncoding	Benign
4	185143605	GCGCCCGCCCGCC	G	C185143621G	SLC25A4	NM_001151.4(SLC25A4):c.111+123CGCC[3]	noncoding	Benign
4	185143605	GCGCC	G	C185143629G	SLC25A4	NM_001151.4(SLC25A4):c.111+123CGCC[5]	noncoding	Benign
4	185144663	C	CA	T185144674A	SLC25A4	NM_001151.4(SLC25A4):c.112-91dup	noncoding	Benign
4	185144690	C	CT	C185144700T	SLC25A4	NM_001151.4(SLC25A4):c.112-65dup	noncoding	Benign
4	185144913	C	CA	C185144916A	SLC25A4	NM_001151.4(SLC25A4):c.263dup:p.Asn88fs	coding	Pathogenic
4	185502168	GTCTAAAGCCTTGACTTTAGATTTGGAGTTGACAA	G	A185502172G	PDLIM3	NM_014476.6(PDLIM3):c.*92_*125del	noncoding	Benign
4	185502580	TCA	T	C185502583G	PDLIM3	NM_014476.6(PDLIM3):c.906-99_906-98del	noncoding	Benign
4	185523095	AAAT	A	T185523101G	PDLIM3	NM_014476.6(PDLIM3):c.330+264_330+266del	noncoding	Benign
4	185523111	CTG	C	G185523113A	PDLIM3	NM_014476.6(PDLIM3):c.330+249_330+250del	noncoding	Benign
4	185523568	A	AT	G185523580T	PDLIM3	NM_014476.6(PDLIM3):c.246-133dup	noncoding	Benign
4	185523568	A	ATT	G185523580T	PDLIM3	NM_014476.6(PDLIM3):c.246-133_246-132dup	noncoding	Benign
4	185523568	A	ATTT	G185523580T	PDLIM3	NM_014476.6(PDLIM3):c.246-133_246-131dup	noncoding	Benign
4	185523615	TC	T	C185523624T	PDLIM3	NM_014476.6(PDLIM3):c.246-170del	noncoding	Benign
4	185523615	T	TC	T185523625C	PDLIM3	NM_014476.6(PDLIM3):c.246-178dup	noncoding	Benign
4	186082299	CT	C	T186082308C	TLR3	NM_003265.3(TLR3):c.634-12del	noncoding	Benign
4	186084631	A	AT	A186084639T	TLR3	NM_003265.3(TLR3):c.2487-7dup	noncoding	Benign
4	186194534	A	AT	A186194536T	CYP4V2	NM_207352.4(CYP4V2):c.250dup:p.Tyr84fs	coding	Pathogenic
4	186194551	TG	T	G186194552C	CYP4V2	NM_207352.4(CYP4V2):c.267del:p.Leu89_Leu90insTer	coding	Pathogenic
4	186194562	TG	T	G186194565T	CYP4V2	NM_207352.4(CYP4V2):c.280del:p.Val94fs	coding	Pathogenic
4	186197069	TA	T	A186197071C	CYP4V2	NM_207352.4(CYP4V2):c.545del:p.Asn182fs	coding	Pathogenic
4	186197787	TTATG	T	T186197790G	CYP4V2	NM_207352.4(CYP4V2):c.674+188_674+191del	noncoding	Benign
4	186201164	CT	C	T186201165G	CYP4V2	NM_207352.4(CYP4V2):c.810del:p.Glu271fs	coding	Pathogenic
4	186205268	G	GA	G186205275A	CYP4V2	NM_207352.4(CYP4V2):c.1062dup:p.Val355fs	coding	Pathogenic
4	186205396	TC	T	C186205401A	CYP4V2	NM_207352.4(CYP4V2):c.1090+99del	noncoding	Benign
4	186209201	TC	T	C186209205G	CYP4V2	NM_207352.4(CYP4V2):c.1338del:p.Glu447fs	coding	Pathogenic
4	186256987	GTC	G	C186256999G	KLKB1	NM_000892.5(KLKB1):c.1586-238TC[5]	noncoding	Benign
4	186256997	C	CTGTG	C186256999G	KLKB1	NM_000892.5(KLKB1):c.1586-228_1586-227insGTGT	noncoding	Benign
4	186256997	CTCTG	C	C186256999G	KLKB1	NM_000892.5(KLKB1):c.1586-227_1586-224del	noncoding	Benign
4	186257633	C	CTTT	A186257634T	KLKB1	NM_000892.5(KLKB1):c.1725+268_1725+269insTTT	noncoding	Benign
4	186266987	G	GAT	A186266989T	F11	NM_000128.4(F11):c.-1-148_-1-147insTA	noncoding	Benign
4	186273152	C	CAAGCAAT	G186273160A	F11	NM_000128.4(F11):c.301_307dup:p.Cys103Ter	coding	Pathogenic
4	186280262	TG	T	G186280265A	F11	NM_000128.4(F11):c.908del:p.Gly303fs	coding	Pathogenic/Likely_pathogenic
4	186280315	CTG	C	T186280318C	F11	NM_000128.4(F11):c.961_962del:p.Cys321fs	coding	Pathogenic/Likely_pathogenic
4	186280516	TA	T	A186280520T	F11	NM_000128.4(F11):c.1075del:p.Ile359fs	coding	Pathogenic/Likely_pathogenic
4	186284190	C	CAA	G186284192A	F11	NM_000128.4(F11):c.1235_1236insAA:p.His414fs	coding	Pathogenic
4	186285774	AT	A	T186285776G	F11	NM_000128.4(F11):c.1443del:p.Ile481fs	coding	Pathogenic
4	186285797	CA	C	A186285798C	F11	NM_000128.4(F11):c.1465del:p.Thr489fs	coding	Pathogenic
4	186287591	A	AATAT	T186287610A	F11	NM_000128.4(F11):c.1577-92AT[11]	noncoding	Benign
4	186287591	A	AAT	T186287610A	F11	NM_000128.4(F11):c.1577-92AT[10]	noncoding	Benign
4	186287591	AAT	A	A186287608T	F11	NM_000128.4(F11):c.1577-92AT[8]	noncoding	Benign
4	186288479	CA	C	A186288482C	F11	NM_000128.4(F11):c.1746del:p.Lys582fs	coding	Pathogenic
4	186534710	AG	A	G186534713C	MTNR1A	NM_005958.4(MTNR1A):c.185-154del	noncoding	Benign
4	186588576	T	TG	A186588583G	FAT1	NM_005245.4(FAT1):c.*15dup	noncoding	Benign
4	186596136	G	GA	G186596143A	FAT1	NM_005245.4(FAT1):c.13001-316dup	noncoding	Benign
4	186604787	G	GGAT	A186604793T	FAT1	NM_005245.4(FAT1):c.10351-216_10351-214dup	noncoding	Benign
4	186604836	AG	A	G186604840A	FAT1	NM_005245.4(FAT1):c.10351-263del	noncoding	Benign
4	186611827	CT	C	T186611841G	FAT1	NM_005245.4(FAT1):c.9464-53del	noncoding	Benign
4	186627981	T	TA	T186627995A	FAT1	NM_005245.4(FAT1):c.4810+160dup	noncoding	Benign
4	186636463	CCAG	C	C186636467G	FAT1	NM_005245.4(FAT1):c.3972+119_3972+121del	noncoding	Benign
4	186637033	CA	C	A186637035C	FAT1	NM_005245.4(FAT1):c.3643-120del	noncoding	Benign
4	186639658	TG	T	G186639659T	FAT1	NM_005245.4(FAT1):c.3642+63del	noncoding	Benign
4	186639706	T	TA	C186639717A	FAT1	NM_005245.4(FAT1):c.3642+15dup	noncoding	Benign
4	186706505	TA	T	A186706521T	FAT1	NM_005245.4(FAT1):c.3265+57del	noncoding	Benign
4	186706505	T	TA	T186706522A	FAT1	NM_005245.4(FAT1):c.3265+42dup	noncoding	Benign
5	218359	T	TC	G218361C	SDHA	NM_004168.4(SDHA):c.5dup:p.Val4fs	coding	Pathogenic
5	223539	A	AAG	G223544A	SDHA	NM_004168.4(SDHA):c.124_125dup:p.Ala43fs	coding	Pathogenic
5	223580	C	CT	G223586T	SDHA	NM_004168.4(SDHA):c.150+17dup	noncoding	Benign
5	224392	AT	A	T224395G	SDHA	NM_004168.4(SDHA):c.186del:p.Phe62fs	coding	Pathogenic
5	224451	C	CA	T224452A	SDHA	NM_004168.4(SDHA):c.242_243insA:p.Ser81_Glu82insTer	coding	Pathogenic
5	224501	TCA	T	A224507T	SDHA	NM_004168.4(SDHA):c.298_299del:p.Thr100fs	coding	Pathogenic/Likely_pathogenic
5	225427	CAA	C	A225428T	SDHA	NM_004168.4(SDHA):c.322_323del:p.Asn108fs	coding	Pathogenic/Likely_pathogenic
5	225496	C	CGACTG	C225503A	SDHA	NM_004168.4(SDHA):c.392_396dup:p.Leu133fs	coding	Pathogenic
5	225551	GC	G	C225553G	SDHA	NM_004168.4(SDHA):c.447del:p.Val150fs	coding	Pathogenic
5	225866	GT	G	T225871A	SDHA	NM_004168.4(SDHA):c.457-12del	noncoding	Benign
5	225892	T	TA	T225894A	SDHA	NM_004168.4(SDHA):c.467dup:p.Tyr156Ter	coding	Pathogenic
5	225979	C	CA	G225981A	SDHA	NM_004168.4(SDHA):c.554dup:p.Ala186fs	coding	Pathogenic
5	228318	CTG	C	G228320T	SDHA	NM_004168.4(SDHA):c.757_758del:p.Val253fs	coding	Pathogenic/Likely_pathogenic
5	230889	AC	A	C230891T	SDHA	NM_004168.4(SDHA):c.786del:p.Tyr263fs	coding	Pathogenic/Likely_pathogenic
5	233466	GT	G	T233472G	SDHA	NM_004168.4(SDHA):c.896-5del	noncoding	Benign
5	233591	TG	T	G233593C	SDHA	NM_004168.4(SDHA):c.1012del:p.Ala338fs	coding	Pathogenic
5	233610	GTC	G	T233613G	SDHA	NM_004168.4(SDHA):c.1032_1033del:p.Arg345fs	coding	Pathogenic
5	233614	CG	C	G233616T	SDHA	NM_004168.4(SDHA):c.1035del:p.Ser346fs	coding	Pathogenic
5	233633	TC	T	C233635G	SDHA	NM_004168.4(SDHA):c.1054del:p.Arg352fs	coding	Pathogenic
5	235153	CCCTG	C	C235154A	SDHA	NM_004168.4(SDHA):c.1075_1078del:p.Pro359fs	coding	Pathogenic
5	235322	A	AC	A235325C	SDHA	NM_004168.4(SDHA):c.1245dup:p.Asn416fs	coding	Pathogenic
5	236446	GGCCAGGATCAGATTGT	G	A236450C	SDHA	NM_004168.4(SDHA):c.1283_1298del:p.Gln428fs	coding	Pathogenic
5	236458	AT	A	T236460G	SDHA	NM_004168.4(SDHA):c.1293del:p.Ile431fs	coding	Pathogenic
5	236510	G	GT	G236512T	SDHA	NM_004168.4(SDHA):c.1344dup:p.Ala449fs	coding	Pathogenic
5	240342	C	CT	G240351T	SDHA	NM_004168.4(SDHA):c.1433-8dup	noncoding	Benign
5	240351	GT	G	T240355A	SDHA	NM_004168.4(SDHA):c.1433-3del	noncoding	Benign
5	240393	G	GAAGA	T240399A	SDHA	NM_004168.4(SDHA):c.1470_1473dup:p.Ser492fs	coding	Pathogenic
5	240417	AAATTGAGATTTGCTGATGGAAGC	A	A240419T	SDHA	NM_004168.4(SDHA):c.1494_1516del:p.Lys498fs	coding	Pathogenic
5	251028	AG	A	G251029C	SDHA	NM_004168.4(SDHA):c.1589del:p.Ser530fs	coding	Pathogenic
5	251095	TCGAC	T	A251098G	SDHA	NM_004168.4(SDHA):c.1658_1661del:p.Asp553fs	coding	Pathogenic
5	251322	CT	C	T251327G	SDHA	NM_004168.4(SDHA):c.1664-11del	noncoding	Benign
5	251389	T	TG	C251391G	SDHA	NM_004168.4(SDHA):c.1716dup:p.Leu573fs	coding	Pathogenic
5	251415	GGA	G	A251417C	SDHA	NM_004168.4(SDHA):c.1743_1744del:p.Ala582fs	coding	Pathogenic
5	251427	CGGAAG	C	G251429A	SDHA	NM_004168.4(SDHA):c.1755_1759del:p.Lys586fs	coding	Pathogenic
5	251437	C	CA	C251439A	SDHA	NM_004168.4(SDHA):c.1764dup:p.Arg589fs	coding	Pathogenic
5	479764	G	GC	A479769C	SLC9A3	NM_004174.4(SLC9A3):c.1647+68dup	noncoding	Benign
5	484598	ATG	A	T484599A	SLC9A3	NM_004174.4(SLC9A3):c.852_853del:p.Ile285fs	coding	Pathogenic
5	484655	AC	A	C484660A	SLC9A3	NM_004174.4(SLC9A3):c.796del:p.Val266fs	coding	Pathogenic
5	485244	CG	C	G485247C	SLC9A3	NM_004174.4(SLC9A3):c.676-14del	noncoding	Benign
5	894996	CA	C	A895000G	TRIP13	NM_004237.4(TRIP13):c.258+48del	noncoding	Benign
5	896867	C	CG	A896868G	TRIP13	NM_004237.4(TRIP13):c.388+73_388+74insG	noncoding	Benign
5	904280	G	GT	C904294T	TRIP13	NM_004237.4(TRIP13):c.608+73dup	noncoding	Benign
5	904280	GT	G	T904293C	TRIP13	NM_004237.4(TRIP13):c.608+73del	noncoding	Benign
5	912005	AT	A	T912015C	TRIP13	NM_004237.4(TRIP13):c.1020+19del	noncoding	Benign
5	914720	C	CGT	C914742T	TRIP13	NM_004237.4(TRIP13):c.1133+144GT[11]	noncoding	Benign
5	914720	C	CGTGT	C914742T	TRIP13	NM_004237.4(TRIP13):c.1133+144GT[12]	noncoding	Benign
5	914720	CGT	C	T914740C	TRIP13	NM_004237.4(TRIP13):c.1133+144GT[9]	noncoding	Benign
5	914820	C	CGT	A914821G	TRIP13	NM_004237.4(TRIP13):c.1133+243_1133+244insGT	noncoding	Benign
5	916791	GC	G	C916792G	TRIP13	NM_004237.4(TRIP13):c.1204-216del	noncoding	Benign
5	1052620	GGAGCA	G	A1052622G	SLC12A7	NM_006598.3(SLC12A7):c.3161-174_3161-170del	noncoding	Benign
5	1076406	A	ATCCTGTGACCACCT	G1076407T	SLC12A7	NM_006598.3(SLC12A7):c.1749-171_1749-170insAGGTGGTCACAGGA	noncoding	Benign
5	1076409	T	TCCA	T1076410C	SLC12A7	NM_006598.3(SLC12A7):c.1749-174_1749-173insTGG	noncoding	Benign
5	1208903	AGTTCCACCCGGGCCCAGGGGTCGCCTCTGCTGGGAAGCC	A	G1208923T	SLC6A19	NM_001003841.3(SLC6A19):c.343+37_343+75del	noncoding	Benign
5	1213890	CCCT	C	T1213893C	SLC6A19	NM_001003841.3(SLC6A19):c.775-60_775-58del	noncoding	Benign
5	1254427	AG	A	G1254429A	TERT	NM_198253.3(TERT):c.3235del:p.Leu1079fs	coding	Pathogenic
5	1254507	TG	T	G1254512A	TERT	NM_198253.3(TERT):c.3158-3del	noncoding	Benign
5	1258444	A	AAC	G1258448C	TERT	NM_198253.3(TERT):c.3032+152_3032+153dup	noncoding	Benign
5	1260610	A	AG	A1260617G	TERT	NM_198253.3(TERT):c.2844-11dup	noncoding	Benign
5	1271125	CT	C	T1271126G	TERT	NM_198253.3(TERT):c.2461del:p.Arg821fs	coding	Pathogenic
5	1272236	CACGAACTGTCGCATGT	C	A1272240G	TERT	NM_198253.3(TERT):c.2315_2330del:p.Tyr772fs	coding	Pathogenic
5	1278441	C	CCA	C1278457A	TERT	NM_198253.3(TERT):c.2286+186TG[8]	noncoding	Benign
5	1279475	CG	C	G1279479A	TERT	NM_198253.3(TERT):c.1951-6del	noncoding	Benign
5	1280235	G	GGA	T1280238G	TERT	NM_198253.3(TERT):c.1871_1872dup:p.Pro625fs	coding	Pathogenic
5	1282094	G	GA	G1282105A	TERT	NM_198253.3(TERT):c.1769+325dup	noncoding	Benign
5	1282415	TG	T	G1282419A	TERT	NM_198253.3(TERT):c.1769+13del	noncoding	Benign
5	1293461	TG	T	G1293466C	TERT	NM_198253.3(TERT):c.1424del:p.Pro475fs	coding	Pathogenic
5	1293571	CG	C	G1293576C	TERT	NM_198253.3(TERT):c.1314del:p.Glu439fs	coding	Pathogenic
5	1293763	TC	T	C1293766T	TERT	NM_198253.3(TERT):c.1122del:p.Thr375fs	coding	Pathogenic
5	1293889	AG	A	G1293890A	TERT	NM_198253.3(TERT):c.996del:p.Tyr333fs	coding	Pathogenic
5	1293962	T	TG	C1293969G	TERT	NM_198253.3(TERT):c.923dup:p.Ser309fs	coding	Pathogenic
5	1294299	C	CGCCTTCGGGGTCCACTA	G1294319C	TERT	NM_198253.3(TERT):c.570_586dup:p.Arg196fs	coding	Pathogenic
5	1294556	GC	G	C1294561G	TERT	NM_198253.3(TERT):c.329del:p.Gly110fs	coding	Pathogenic
5	1294791	C	CG	C1294798G	TERT	NM_198253.3(TERT):c.198dup:p.Ala67fs	coding	Pathogenic
5	1294978	A	AGC	G1294986C	TERT	NM_198253.3(TERT):c.10_11dup:p.Pro5fs	coding	Pathogenic
5	1400816	A	ATCTACACCAGCCCTG	T1400829C	SLC6A3	NM_001044.5(SLC6A3):c.1839+98_1839+99insGGCTGGTGTAGACAG	noncoding	Benign
5	1405842	ACTTCGAC	A	C1405846G	SLC6A3	NM_001044.5(SLC6A3):c.1599+339_1599+345del	noncoding	Benign
5	1414398	TG	T	G1414405C	SLC6A3	NM_001044.5(SLC6A3):c.1156+292del	noncoding	Benign
5	1421983	CA	C	A1421984T	SLC6A3	NM_001044.5(SLC6A3):c.684del:p.His228fs	coding	Pathogenic
5	1432851	A	AG	A1432855G	SLC6A3	NM_001044.5(SLC6A3):c.419-156dup	noncoding	Benign
5	1801313	C	CG	C1801314G	NDUFS6	Single_allele	noncoding	Benign
5	1802380	T	TA	T1802387A	NDUFS6	NM_004553.6(NDUFS6):c.186+12dup	noncoding	Benign
5	1814281	TTGTA	T	T1814286G	NDUFS6	NM_004553.6(NDUFS6):c.187-53_187-50del	noncoding	Benign
5	1815861	CAA	C	A1815865C	NDUFS6	NM_004553.6(NDUFS6):c.324_325del:p.Lys108fs	coding	Pathogenic
5	1881056	CCGGTGGGGGGGGG	C	T1881060G	IRX4	NM_016358.3(IRX4):c.298-235_298-223del	noncoding	Benign
5	1882932	G	GA	C1882946A	IRX4	NM_001278632.1(IRX4):c.-100-186dup	noncoding	Benign
5	6600379	G	GT	G6600380T	NSUN2	NM_017755.6(NSUN2):c.1998-148_1998-147insA	noncoding	Benign
5	6600385	GA	G	A6600386G	NSUN2	NM_017755.6(NSUN2):c.1998-154del	noncoding	Benign
5	6604420	AC	A	C6604428T	NSUN2	NM_017755.6(NSUN2):c.1819-145del	noncoding	Benign
5	6605422	CATT	C	A6605423G	NSUN2	NM_017755.6(NSUN2):c.1602-17_1602-15del	noncoding	Benign/Likely_benign
5	6606633	CTTAAA	C	T6606639A	NSUN2	NM_017755.6(NSUN2):c.1601+182_1601+186del	noncoding	Benign
5	6606697	TAAA	T	A6606710G	NSUN2	NM_017755.6(NSUN2):c.1601+120_1601+122del	noncoding	Benign
5	6606697	TAA	T	A6606711G	NSUN2	NM_017755.6(NSUN2):c.1601+121_1601+122del	noncoding	Benign
5	6606697	TA	T	A6606712G	NSUN2	NM_017755.6(NSUN2):c.1601+122del	noncoding	Benign
5	6607012	GAAC	G	A6607013G	NSUN2	NM_017755.6(NSUN2):c.1509-103_1509-101del	noncoding	Benign
5	6610683	CA	C	A6610700G	NSUN2	NM_017755.6(NSUN2):c.1226+271del	noncoding	Benign
5	6611084	AC	A	C6611086T	NSUN2	NM_017755.5(NSUN2):c.1096del	coding	Pathogenic
5	6619848	CTGTTT	C	G6619860C	NSUN2	NM_017755.6(NSUN2):c.815+243AAACA[2]	noncoding	Benign
5	6621747	C	CAA	G6621762A	NSUN2	NM_017755.6(NSUN2):c.622+255_622+256dup	noncoding	Benign
5	6621747	C	CA	G6621762A	NSUN2	NM_017755.6(NSUN2):c.622+255dup	noncoding	Benign
5	6623044	GAA	G	A6623059G	NSUN2	NM_017755.6(NSUN2):c.537+168_537+169del	noncoding	Benign
5	6623044	GA	G	A6623060G	NSUN2	NM_017755.6(NSUN2):c.537+169del	noncoding	Benign
5	6623292	GA	G	A6623304T	NSUN2	NM_017755.6(NSUN2):c.466-8del	noncoding	Benign
5	6623292	G	GA	T6623305A	NSUN2	NM_017755.6(NSUN2):c.466-19dup	noncoding	Benign
5	6623319	G	GAA	C6623333A	NSUN2	NM_017755.6(NSUN2):c.466-47_466-46dup	noncoding	Benign
5	6623319	G	GA	C6623333A	NSUN2	NM_017755.6(NSUN2):c.466-47dup	noncoding	Benign
5	6632211	A	AT	A6632212T	NSUN2	NM_017755.6(NSUN2):c.255-235_255-234insA	noncoding	Benign
5	6632661	GC	G	C6632665A	NSUN2	NM_017755.6(NSUN2):c.191del:p.Gly64fs	coding	Pathogenic
5	6633194	TA	T	A6633196G	NSUN2	NM_017755.5(NSUN2):c.-217delT	noncoding	Benign/Likely_benign
5	7869342	TC	T	C7869344G	MTRR	NM_002454.3(MTRR):c.-26+129del	noncoding	Benign
5	7871150	CCTT	C	C7871151A	MTRR	NM_002454.3(MTRR):c.129+228_129+230del	noncoding	Benign
5	7873470	T	TA	C7873472A	MTRR	NM_002454.3(MTRR):c.228dup:p.Gln77fs	coding	Pathogenic
5	7873534	ACT	A	C7873541T	MTRR	NM_002454.3(MTRR):c.283+9CT[3]	noncoding	Benign
5	7875313	AC	A	C7875314G	MTRR	NM_002454.3(MTRR):c.340del:p.Arg114fs	coding	Pathogenic
5	7875327	TTGGAG	T	T7875328C	MTRR	NM_002454.3(MTRR):c.354_358del:p.Gly119fs	coding	Pathogenic
5	7878255	CCT	C	C7878260G	MTRR	NM_002454.3(MTRR):c.718_719del:p.Leu240fs	coding	Pathogenic
5	7883187	TC	T	C7883189A	MTRR	NM_002454.3(MTRR):c.815del:p.Pro272fs	coding	Pathogenic
5	7885562	G	GT	G7885574T	MTRR	NM_002454.3(MTRR):c.904-128dup	noncoding	Benign
5	7885669	A	AT	C7885682T	MTRR	NM_002454.3(MTRR):c.904-20dup	noncoding	Benign
5	7885669	A	ATT	C7885682T	MTRR	NM_002454.3(MTRR):c.904-21_904-20dup	noncoding	Benign
5	7885843	CAAAG	C	A7885846G	MTRR	NM_002454.3(MTRR):c.1049_1052del:p.Lys350fs	coding	Pathogenic
5	7885843	CAA	C	A7885845G	MTRR	NM_002454.3(MTRR):c.1048_1049del:p.Lys350fs	coding	Pathogenic
5	7886472	TG	T	G7886474C	MTRR	NM_002454.3(MTRR):c.1058-141del	noncoding	Benign
5	7886706	AT	A	T7886713C	MTRR	NM_002454.3(MTRR):c.1146+10del	noncoding	Benign
5	7889247	T	TTGCCAGCCACCACTCC	A7889263C	MTRR	NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC:p.Ser439fs	coding	Pathogenic
5	7891259	ATGATT	A	T7891263G	MTRR	NM_002454.3(MTRR):c.1328-109_1328-105del	noncoding	Benign
5	7892830	TG	T	G7892832C	MTRR	NM_002454.3(MTRR):c.1476del:p.Trp492fs	coding	Pathogenic
5	7895786	C	CA	T7895789A	MTRR	NM_002454.3(MTRR):c.1612dup:p.Ile538fs	coding	Pathogenic
5	7895796	C	CAT	A7895800T	MTRR	NM_002454.3(MTRR):c.1622_1623dup:p.Met542Ter	coding	Pathogenic
5	7895824	G	GC	G7895829C	MTRR	NM_002454.3(MTRR):c.1652dup:p.Phe552fs	coding	Pathogenic
5	7896844	C	CT	C7896856T	MTRR	NM_002454.3(MTRR):c.1677-9dup	noncoding	Benign
5	7896844	CT	C	T7896855C	MTRR	NM_002454.3(MTRR):c.1677-9del	noncoding	Benign
5	7896911	GGTT	G	G7896915T	MTRR	NM_002454.3(MTRR):c.1725GTT[1]:p.Leu576del	coding	Pathogenic
5	7896914	TG	T	G7896915T	MTRR	NM_002454.3(MTRR):c.1728del:p.Leu576fs	coding	Pathogenic
5	10249922	AAAAAAAAAAAAAC	A	A10249923C	CCT5	NM_012073.4(CCT5):c.-418_-406delAAAAAAAAAAAAC	noncoding	Benign
5	10249923	AAAAAAAAAAAAC	A	A10249924C	CCT5	NM_012073.4(CCT5):c.-417_-406delAAAAAAAAAAAC	noncoding	Benign
5	10249924	AAAAAAAAAAAC	A	A10249925C	CCT5	NM_012073.4(CCT5):c.-416_-406delAAAAAAAAAAC	noncoding	Benign
5	10249925	AAAAAAAAAAC	A	A10249926C	CCT5	NM_012073.4(CCT5):c.-415_-406delAAAAAAAAAC	noncoding	Benign
5	10254984	C	CCT	G10254985C	CCT5	NM_012073.5(CCT5):c.331+146_331+147insCT	noncoding	Benign
5	10255933	TTGTC	T	T10255936C	CCT5	NM_012073.5(CCT5):c.332-19_332-16del	noncoding	Benign
5	10260544	A	AT	G10260545T	CCT5	NM_012073.5(CCT5):c.874-248_874-247insT	noncoding	Benign
5	10263341	GA	G	A10263342G	CCT5	NM_012073.5(CCT5):c.1498+28del	noncoding	Benign
5	10263349	GGGA	G	G10263350T	CCT5	NM_012073.5(CCT5):c.1498+36_1498+38del	noncoding	Benign
5	10981586	A	AACACACACAC	G10981608C	CTNND2	NM_001332.4(CTNND2):c.3417+167GT[15]	noncoding	Benign
5	10981586	A	AACACAC	G10981608C	CTNND2	NM_001332.4(CTNND2):c.3417+167GT[13]	noncoding	Benign
5	10981586	A	AAC	G10981608C	CTNND2	NM_001332.4(CTNND2):c.3417+167GT[11]	noncoding	Benign
5	10981767	C	CTTTA	C10981772T	CTNND2	NM_001332.4(CTNND2):c.3417+2_3417+5dup	noncoding	Benign
5	10982021	GA	G	A10982022G	CTNND2	NM_001332.4(CTNND2):c.3344-176del	noncoding	Benign
5	11098348	ACATCTAGTC	A	A11098350T	CTNND2	NM_001332.4(CTNND2):c.2637+218_2637+226del	noncoding	Benign
5	11117134	TAAA	T	A11117144C	CTNND2	NM_001332.4(CTNND2):c.2277+313_2277+315del	noncoding	Benign
5	11117134	TA	T	A11117146C	CTNND2	NM_001332.4(CTNND2):c.2277+315del	noncoding	Benign
5	11346927	GAAGAAATATAGAGAATACTTTCT	G	A11346931G	CTNND2	NM_001332.4(CTNND2):c.1373-323_1373-301del	noncoding	Benign
5	11385089	C	CGCG	G11385109C	CTNND2	NM_001332.4(CTNND2):c.735CGC[7]:p.Ala251dup	coding	Benign
5	11385089	C	CGCGGCG	G11385109C	CTNND2	NM_001332.4(CTNND2):c.735CGC[8]:p.Ala250_Ala251dup	coding	Benign
5	11385089	CGCG	C	C11385106G	CTNND2	NM_001332.4(CTNND2):c.735CGC[5]:p.Ala251del	coding	Benign
5	11385162	C	CGCG	C11385187G	CTNND2	NM_001332.4(CTNND2):c.656CGC[9]:p.Pro226dup	coding	Benign
5	11397391	AT	A	T11397401G	CTNND2	NM_001332.4(CTNND2):c.440-189del	noncoding	Benign
5	13692139	C	CA	C13692146A	DNAH5	NM_001369.3(DNAH5):c.13724-5dup	noncoding	Benign
5	13700736	C	CTTTT	A13700737T	DNAH5	NM_001369.3(DNAH5):c.13626_13627insAAAA:p.Ala4543fs	coding	Pathogenic
5	13700818	A	AT	G13700821T	DNAH5	NM_001369.3(DNAH5):c.13544dup:p.Asn4515fs	coding	Pathogenic
5	13701299	TAAAAATCCCTGGGGGTTAA	T	T13701305C	DNAH5	NM_001369.3(DNAH5):c.13457_13475del:p.Phe4485_Phe4486insTer	coding	Pathogenic
5	13701508	GA	G	A13701520G	DNAH5	NM_001369.3(DNAH5):c.13339-73del	noncoding	Benign
5	13701508	G	GA	G13701521A	DNAH5	NM_001369.3(DNAH5):c.13339-84dup	noncoding	Benign
5	13708151	TC	T	C13708152A	DNAH5	NM_001369.3(DNAH5):c.13309del:p.Asp4437fs	coding	Pathogenic
5	13708476	GA	G	A13708487G	DNAH5	NM_001369.3(DNAH5):c.13126-142del	noncoding	Benign
5	13708476	G	GA	G13708488A	DNAH5	NM_001369.3(DNAH5):c.13126-152dup	noncoding	Benign
5	13714618	ACT	A	C13714621G	DNAH5	NC_000005.9:g.13714728_13714729del	coding	Pathogenic
5	13716533	TTGTAT	ATTTTAC	T13716533A	DNAH5	NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT:p.Tyr4287_Asn4288delinsTer	coding	Pathogenic
5	13718618	TATTA	T	A13718623T	DNAH5	NM_001369.3(DNAH5):c.12499+260_12499+263del	noncoding	Benign
5	13720858	A	AT	A13720862T	DNAH5	NM_001369.3(DNAH5):c.12279+139dup	noncoding	Benign
5	13720861	T	TA	C13720872A	DNAH5	NM_001369.3(DNAH5):c.12279+129dup	noncoding	Benign
5	13721250	C	CA	C13721256A	DNAH5	NM_001369.3(DNAH5):c.12034-10dup	noncoding	Benign
5	13727604	T	TC	G13727607C	DNAH5	NM_001369.3(DNAH5):c.11935dup:p.Glu3979fs	coding	Pathogenic/Likely_pathogenic
5	13729451	ATCTGAAAACTG	A	A13729457G	DNAH5	NM_001369.3(DNAH5):c.11860_11870del:p.Gln3954fs	coding	Pathogenic
5	13729481	CA	C	A13729482C	DNAH5	NM_001369.3(DNAH5):c.11840del:p.Val3947fs	coding	Pathogenic
5	13729654	TTAC	T	A13729659T	DNAH5	NM_001369.3(DNAH5):c.11762-97_11762-95del	noncoding	Benign
5	13735223	TCCTCGTACAGC	T	T13735229G	DNAH5	NM_001369.3(DNAH5):c.11658_11668del:p.Leu3887fs	coding	Pathogenic
5	13735279	GAT	G	A13735282T	DNAH5	NM_001369.3(DNAH5):c.11611_11612del:p.Ile3871fs	coding	Pathogenic
5	13735875	TCATTAACCAAGCG	T	T13735879C	DNAH5	NM_001369.3(DNAH5):c.11500_11512del:p.Leu3835fs	coding	Pathogenic
5	13737285	GA	G	A13737287C	DNAH5	NM_001369.3(DNAH5):c.11421del:p.Gln3808fs	coding	Pathogenic
5	13737289	TTC	T	C13737291G	DNAH5	NM_001369.3(DNAH5):c.11416_11417del:p.Glu3806fs	coding	Pathogenic
5	13737389	C	CTTGTCAGGCGGTA	C13737390T	DNAH5	NM_001369.3(DNAH5):c.11317_11318insTACCGCCTGACAA:p.Gly3773fs	coding	Pathogenic
5	13737393	G	GTCAGGC	G13737394T	DNAH5	NM_001369.3(DNAH5):c.11313_11314insGCCTGA:p.Gln3772delinsAlaTer	coding	Pathogenic
5	13751160	CGG	C	G13751162C	DNAH5	NM_001369.3(DNAH5):c.11127_11128del:p.Arg3710fs	coding	Pathogenic
5	13751238	ACTTC	A	C13751242G	DNAH5	NM_001369.3(DNAH5):c.11047_11050del:p.Lys3682_Glu3683insTer	coding	Pathogenic
5	13753385	TA	T	A13753387T	DNAH5	NM_001369.3(DNAH5):c.10719del:p.Ser3574fs	coding	Pathogenic
5	13753496	C	CTTGGT	A13753503T	DNAH5	NM_001369.3(DNAH5):c.10604_10608dup:p.Glu3537fs	coding	Pathogenic
5	13754319	T	TA	C13754320A	DNAH5	NM_001369.3(DNAH5):c.10438_10439insT:p.Glu3480fs	coding	Pathogenic
5	13758887	CG	C	G13758888T	DNAH5	NM_001369.3(DNAH5):c.10377del:p.Asp3459fs	coding	Pathogenic
5	13759063	TA	T	A13759065C	DNAH5	NM_001369.3(DNAH5):c.10282-81del	noncoding	Benign
5	13762722	CT	C	T13762724C	DNAH5	NM_001369.3(DNAH5):c.10280del:p.Lys3427fs	coding	Pathogenic
5	13764772	AATTAATACTAAGCCCAAAATTCATCAAAAGTACAAGGGACAAACAAAATGAAGCATATTATAGTGTTTCACACTGGTGCTGGTTCAAACAGGCTTGTAAAAAATGATTGTTAAATTTCCAAGAATTCTGCAAACTTGTTAGACTCCGCCATTATTAAAAATTAAAATATATAAGCTTACAATTAAATAAATGATATCTCAAACAAAGATTATAGTCAAAGCTCATAACTTGCTAATTCTTAGACTAAATTTGACTACCATCTGTGTTTTTGAGGTCATTTACAAGTATTGTATCTACATGGTGGAAACACTACACAGTGGCTGCTACCATGCACCTCTTCTCAACTCTAGATTCAGCAACATCATTTTGGCAGCTTAAAACAGCCATCATGGGAGTGCTTACACTATGGCAAGACTTCAAATTAGAGCTTTTTTTTTCTTTTTTTTGTTTTCCTTTCTCCCTTAAGAATCAGTTGTTAAACATTTCTCACACACAGTACAGCACATTTATATACTGGCAAACTATATAACAATGAAAAAAGAAAGACTGTCATTTGCAACAATAAGAATGAATTTCACAGACATGTTGAATGAAAGAGGTCAAAACAAAAGTGTTCATACAATATTATTTCACATATGCAAATTTCAAAACAGGCAAAGCTAATTATCTGGATAAAGGTAAGGATATAATTATCTTAAGGAAAGTTATTGACTTGGTTGGGGCACAAGAGAGATTTCTGGGGTCTGAAAATATATATTTTTCTTCCAGTGTTCACAAATAGGTATATACATATGTAAATATTCATCAAGTTATACATTTAAAATTTGTGCATTTATTCATGTTAAGTTCTATCTCATAAAATTAAAAAAGCTGTAAATTAATACTAAAAAATTACTGAGAAATGCAAAATACAAATATTTGTATTCATGTGAATATAATATAAATACATACTTATTGTCTTCTTAAAATGATTTTTTTAACTTTTATTGAAGTATACATAACACTGATGATGCTTTAATACAACTAAAATCTGTCAGGAAAAACTCTAATGCTTATAATGTTTTATATTTGAGACAAAGTTTTACTCTGAAAAAATCATGTATGTAGAGTAAGTTCTTTTTTTAGAAACTTATTCTACGAAAAGGACTCATACACCAGTGAAGAATGAGTTCCCTCTTAGCCCATCACCACTGAACTACCAACCTGTAAGTTCTGTAAAAAGTTCCCTGCAGTCATCAATTTTAAGGATTCCTGCCAGGAGGGCATGGTACAGCTTTTTTCCAGGTCAATTTTCACAGCACTGACTTTCCTTTGAAACAGCAGCAGTACGCAATCCATGATCCGCATGATGAGGTGAGGGGGGCGGCCCAACGTGCGAACAGTGGCGATGTCCGAAGGCCTGATGGTCTGGGGGATGAAAGGAACGATCACCCAACCACAGATAGGAAAGCACAGACAAGCAAACCTTGCATGTCCAAATGCTGCTATTTCAACAGAGGACAGAAAACTGTTTTAAGTTAGATGCAGGCCACAGGGTCTAGATGCATATTTAATCCCAAAGAAACACCATGTCCCAACAAGTTCACATTTCTACTATTCAAACTAGCAGTGACAGGAAAGAAATGTTGGCGAGCAGATAAGGAGCTGTGACTTCTCTAAAAGTGCACAGATGGCTTTGTGCCAGAAAAAAGAAAGGCATAATCTGAAAGAAAAAGAATAGTCAGCACATAAGTAGATTTCGAGGTTCAAAACCAGGAAAATTACAGTATTTGTGGTGCTTTTTTACTTATTAGCTATGTAGGTCAAGAATCTGCCTCTCTCTCTTAAACAATTCAGGCTCGTCACTGTGGACTGACACCAGAGGGTAGCCACAGGGCTGACAGATTGAATAATTAGAGGTTTCTTAGCTAGGAACTGACCTTTAAATGACGGGACTTGAGCAATAAGAATTTTACTAAGCTCTCTCTTAGAAAAGTTCCATTCCATTTCTAGTATGTATACACTTATAGAGTAAATGATTTAATAGTCACATACACCTGTTTTGGTTGATAATAACTGCTCAATCACCTAAAACTCACTATGGAATAAGTATTGAAAAAGTGTTAAATGTAAGAATTGGAAACAATCCTATCTCTAAGACAAATAGTATATATTCCTTCCTTCCAGATCTTCAAAACATCCATCTGGTTTGTATTTGCATCCTTTCTATCAAAAGACAGTAACCAATGACCTTCACATAAAAGTGAATGATTTTTTTCTCCAAGGACTGAGGACAAAGAAAAAACACTAAACTTGGTAAATTAGGAATGTAATTACATACCTTGAAAAGGTTTGTATATATATATAGTTTTGCTTTTGTTTTTTATTTTGAGACCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCACTGGCGTAATCTCAGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACACACCACCATGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACATCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGAATTACAGGCGTGAGCCAGCATGCCCAGCCTGTTTTAATATATTAATACTAGCAGTTATGAAAGCCAGACAGCTGGAAGTTAGGGTGAATGTGTAGTAGAGAACTGAAAATGGCAAACAGACCTTTATTTGAGGTGCACAGTTATAAAAGAAAAGAGAAAAATAGAACAGCAGCCAGTGAGGAAAGTAGGGTAGGGTCAAATTAAAGTTATATAAAATGTAAGGGCTAGGCATGCTTACTTTACTTTAGCTTTAAAAATAATTTTCAAACAGCATGGTGCTCAGCTGTGTTAGATGCCCAGGTAAAAGAGGTTGGAGAGGGGAACAAAAACTCAACCTGTTTCACCTAAGCATTAAAGTCCTCTCTTTTCTGCAGGCCAAGAAATATGACTGTTATATAATCTCCTATATGCTGTGGCAATAGAACAGTTATCTAACATCTGGAGGTATTTTTTATTTTTGCTCTGAGCTGGTTAAAGTCACATTAATATCAAGATAGGAAGAGACACATTCTTTGCACAAGATTTGTTGTCTTATTTGTTGTATGGATTTATGTAACCTGATGTCAAAATGTTAAGAGTTTGTACATACCTGGAACTTTCTTAGTAAAAGTGAGTCTTCAAAACTGGACCAGCCTTTAAGGTGTGGCCTAGTTCACTAAACTCATTTCATTTTCTCAAAATCCAACCTCTTTTGTAATTTTGCCATTGGTGTATTGCCACATAGTTTGATATGGTTTAGCTCTATGTCCCCACCCAAATCTCATCGCAAACTGTAATCTCCACATGTCAAGGGAGGGACCTGGTGGGAGGTGATTGGATCATGGGGACAGTTTCCCCCATGCTGTTCTCATGATGGTGAGTGAGTTCTCAGGAGATCTGATGGTTTCAAAGTGGCAGTTTCCCCTGATCTCTCTCCCGCCATCTTGTGAAGAAAGTGTCTGCTTCCGTTCACCTTCTGCCATGATCGTAAGTTTCCTGAGGCCTCCCCAGCCATGCGGAACTCTGAGTCAATTAAACGTCTTTTGTTTATAAATTACCCCGTCTCAGGTAACATCTTTATACAGTGTGAACACAGACTAATACACAATTGTACTGTTTAATTGCGTTGGAAGCCTGCTCAAACTCTCTCATTAATGTGCTACATCAGACCAGCAGCTCTCTATTTGGGTAATTCATAGACAGAAAACGTCGTATCTTACAGATCACCTACTCCATTGGCCTCAATGAATGAATGAGAGAATGTTGCCTTAGAAAGTTGATGTAACTTTTCCAACATTACATAGCTTATTGATGACAGAGTTGAAATGAGGACCCAGGACTCTTGGCCACCAGTATATGGCATTGCCCAACATTGATGAGTGAAGAGTGTGAGATGTTAAGCAGAACAGGCAAAACCTATAAAGAGCTAATAAAGTCTCAAGCAGAAAATATTACTTGAAATCACTCAAGTGGATAGAGCTTTCATCTGAACCAGTAGAGCATTTCCTTGCTGTTATTCATCTTTTTAGCATTAGTCTGCCTCTTAAGCCCTAAAGCTGACATCTGTTATATCACATAGATGCACCTGCAATGCAGCTTCTGCCTCTTCTAAAGCTGGTTTTGCTGCTTCCAGTTTTTCTTCAGCAATGGCTTTGTCTTTAGAGATGCTGTCCACAATGGCCTGGGCCCTGTCCTTCACCTTCTGTACCTCAGCCTTGACCTTTTCAGCAGCCTGTGCTTTCATTGTCACTTCTTTTAAGACCTAATTCAATATAAAGCAAGCAATACTTCACCAAACAGTATTAAACATCCAGCTGAAAATGCACATTTTTGCCTTGATTTGTTGATTTTGTTCACTTACCCAGTTTTGTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGCACTTACCCAGTTTTTTATACATAAAATTAAGAGTATTTTATTCCAATGGAAGTTAATGTATACTTCACTAGTTATAGCCAGTGAATATGCATAGATCATTAACACTTGTGAACTGAGAATTCAAAAGGAATGTGGCACATGTGTAAATGCCCACCCACCATGTCGGCTTTATCGTTGGCCACTTGTAGCTCCTTTTCTTTCGCTTCCAGTTCTTTACTCAAGGCTGCAACAGACTCTGAAGCTTCTTTGAGCTTTTCCAATCCAGTATTCATTCTGGGATTGAAAATCCAAGCAAGCAATGTTAAAATGTGTAGGACTTGGATGCAATTCTCAAGTACTGGTCCAATAATGAGTGGTAATGGTTATATCTGAAGATTGCATGTATGCAAGTAGCAAACCCAAGAGGGCT	TAA	A13764772T	DNAH5	NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA	noncoding	Pathogenic
5	13766086	GA	G	A13766089C	DNAH5	NM_001369.3(DNAH5):c.9990del:p.Gln3331fs	coding	Pathogenic/Likely_pathogenic
5	13766086	G	GA	C13766090A	DNAH5	NM_001369.3(DNAH5):c.9990dup:p.Gln3331fs	coding	Pathogenic
5	13768958	AC	A	C13768960T	DNAH5	NM_001369.3(DNAH5):c.9897+1del	noncoding	Pathogenic
5	13769538	TC	T	C13769539T	DNAH5	NM_001369.3(DNAH5):c.9682del:p.Glu3228fs	coding	Pathogenic
5	13769583	GC	G	C13769584T	DNAH5	NM_001369.3(DNAH5):c.9637del:p.Ala3213fs	coding	Pathogenic
5	13770648	C	CA	T13770653A	DNAH5	NM_001369.3(DNAH5):c.9605+97dup	noncoding	Benign
5	13770796	CT	C	T13770798A	DNAH5	NM_001369.3(DNAH5):c.9557del:p.Lys3186fs	coding	Pathogenic
5	13770813	AG	A	G13770815A	DNAH5	NM_001369.3(DNAH5):c.9540del:p.Phe3181fs	coding	Pathogenic
5	13770949	AATAT	A	A13770950C	DNAH5	NM_001369.3(DNAH5):c.9401_9404del:p.Asp3134fs	coding	Pathogenic
5	13777273	TA	T	A13777277G	DNAH5	NM_001369.3(DNAH5):c.9033del:p.Phe3011fs	coding	Pathogenic
5	13777303	C	CAAGGTTT	T13777304A	DNAH5	NM_001369.3(DNAH5):c.9003_9004insAAACCTT:p.Ala3002fs	coding	Pathogenic
5	13786192	AC	A	C13786194A	DNAH5	NM_001369.3(DNAH5):c.8806del:p.Val2936fs	coding	Pathogenic
5	13788872	C	CTA	A13788877T	DNAH5	NM_001369.3(DNAH5):c.8489_8490dup:p.Ala2831Ter	coding	Pathogenic
5	13792224	AG	A	G13792229A	DNAH5	NM_001369.3(DNAH5):c.8225-8del	noncoding	Benign
5	13793522	CT	C	T13793524G	DNAH5	NM_001369.3(DNAH5):c.8216del:p.Lys2739fs	coding	Pathogenic
5	13793953	TG	T	G13793954A	DNAH5	NM_001369.3(DNAH5):c.7992del:p.Asn2665fs	coding	Pathogenic
5	13794063	GA	G	A13794072T	DNAH5	NM_001369.3(DNAH5):c.7888-6del	noncoding	Benign
5	13807619	GA	G	A13807624T	DNAH5	NM_001369.3(DNAH5):c.7858del:p.Ser2620fs	coding	Pathogenic
5	13807743	GA	G	A13807752G	DNAH5	NM_001369.3(DNAH5):c.7753-19del	noncoding	Benign
5	13807743	G	GA	G13807753A	DNAH5	NM_001369.3(DNAH5):c.7753-19dup	noncoding	Benign
5	13810089	T	TGTCCCCGGGCCCCGCTGGCGGCGGC	A13810115G	DNAH5	NM_001369.3(DNAH5):c.7554_7578dup:p.Thr2527fs	coding	Pathogenic
5	13810140	A	AGC	A13810145G	DNAH5	NM_001369.3(DNAH5):c.7526_7527dup:p.Ser2510fs	coding	Pathogenic
5	13810158	G	GCT	G13810159C	DNAH5	NM_001369.3(DNAH5):c.7509_7510insAG:p.Leu2504fs	coding	Pathogenic
5	13810167	GTCCGTCCAGCTCCAGCGCCGCCC	G	T13810168C	DNAH5	NM_001369.3(DNAH5):c.7478_7500del:p.Gly2493fs	coding	Pathogenic
5	13810211	A	AAC	G13810216A	DNAH5	NM_001369.3(DNAH5):c.7455_7456dup:p.Phe2486fs	coding	Pathogenic
5	13810217	AACAGCCGCCCCAGG	A	A13810218T	DNAH5	NM_001369.3(DNAH5):c.7437_7450del:p.Leu2480fs	coding	Pathogenic
5	13810342	CAT	C	T13810344G	DNAH5	NM_001369.3(DNAH5):c.7408-84_7408-83del	noncoding	Benign
5	13811688	T	TG	A13811690G	DNAH5	NM_001369.3(DNAH5):c.7365dup:p.Thr2456fs	coding	Pathogenic
5	13811713	C	CA	T13811715A	DNAH5	NM_001369.3(DNAH5):c.7340dup:p.Met2447fs	coding	Pathogenic
5	13814769	T	TAA	T13814771A	DNAH5	NM_001369.3(DNAH5):c.7065_7066insTT:p.Asn2356fs	coding	Pathogenic/Likely_pathogenic
5	13817691	CA	C	A13817693T	DNAH5	NM_001369.3(DNAH5):c.6844del:p.Cys2282fs	coding	Pathogenic
5	13820377	GGTGGTCTTCCCAGCCCC	G	G13820378A	DNAH5	NM_001369.3(DNAH5):c.6793_6809del:p.Gly2265fs	coding	Pathogenic
5	13820382	TC	T	C13820383T	DNAH5	NM_001369.3(DNAH5):c.6804del:p.Thr2269fs	coding	Pathogenic
5	13823372	T	TA	G13823380A	DNAH5	NM_001369.3(DNAH5):c.6580-9dup	noncoding	Benign
5	13829342	T	TA	C13829349A	DNAH5	NM_001369.3(DNAH5):c.6444+162dup	noncoding	Benign
5	13829585	GC	G	C13829587A	DNAH5	NM_001369.3(DNAH5):c.6368del:p.Gly2123fs	coding	Pathogenic
5	13829898	TTTTCAAAAGGAGGTAAAGTTACAATCCCAA	T	A13829903C	DNAH5	NM_001369.3(DNAH5):c.6249+98_6249+127del	noncoding	Benign
5	13830415	CA	C	A13830423G	DNAH5	NM_001369.3(DNAH5):c.6061+181del	noncoding	Benign
5	13830658	G	GT	A13830660T	DNAH5	NM_001369.3(DNAH5):c.5999dup:p.Tyr2000Ter	coding	Pathogenic
5	13830703	GCC	G	C13830704T	DNAH5	NM_001369.3(DNAH5):c.5953_5954del:p.Gly1985fs	coding	Pathogenic
5	13830763	C	CGTGAT	A13830771G	DNAH5	NM_001369.3(DNAH5):c.5890_5894dup:p.Leu1966fs	coding	Pathogenic
5	13841032	C	CTGATTAG	T13841041G	DNAH5	NM_001369.3(DNAH5):c.5576_5582dup:p.Gln1861delinsHisTer	coding	Pathogenic
5	13841082	C	CT	C13841085T	DNAH5	NM_001369.3(DNAH5):c.5532dup:p.Ala1845fs	coding	Pathogenic
5	13841741	TG	T	G13841742A	DNAH5	NM_001369.3(DNAH5):c.5434del:p.Gln1812fs	coding	Pathogenic
5	13841831	TC	T	C13841832T	DNAH5	NM_001369.3(DNAH5):c.5344del:p.Glu1782fs	coding	Pathogenic
5	13841849	TC	T	C13841851A	DNAH5	NM_001369.3(DNAH5):c.5326del:p.Asp1776fs	coding	Pathogenic
5	13842050	T	TA	G13842061A	DNAH5	NM_001369.3(DNAH5):c.5272-156dup	noncoding	Benign
5	13844625	AT	A	T13844633A	DNAH5	NM_001369.3(DNAH5):c.5271+211del	noncoding	Benign
5	13844863	TG	T	G13844864T	DNAH5	NM_001369.3(DNAH5):c.5244del:p.Asn1748fs	coding	Pathogenic
5	13850799	GA	G	A13850803C	DNAH5	NM_001369.3(DNAH5):c.4966del:p.Ser1656fs	coding	Pathogenic
5	13859571	A	AT	G13859577T	DNAH5	NM_001369.3(DNAH5):c.4830dup:p.Trp1611fs	coding	Pathogenic
5	13862554	CTCAG	C	C13862556A	DNAH5	NM_001369.3(DNAH5):c.4786_4789del:p.Leu1596fs	coding	Pathogenic
5	13862648	TA	T	A13862651G	DNAH5	NM_001369.3(DNAH5):c.4695del:p.Phe1565fs	coding	Pathogenic
5	13862715	GTC	G	C13862723T	DNAH5	NM_001369.3(DNAH5):c.4627_4628del:p.Asp1543fs	coding	Pathogenic
5	13862721	CTCTT	C	T13862724A	DNAH5	NM_001369.3(DNAH5):c.4619_4622del:p.Lys1540fs	coding	Pathogenic
5	13862855	T	TAA	T13862857A	DNAH5	NM_001369.3(DNAH5):c.4597-109_4597-108insTT	noncoding	Benign
5	13862860	A	ATATATATATATATG	A13862865T	DNAH5	NM_001369.3(DNAH5):c.4597-114_4597-113insTATACATATATATA	noncoding	Benign
5	13862860	A	ATATATATATATG	A13862865T	DNAH5	NM_001369.3(DNAH5):c.4597-114_4597-113insTATACATATATA	noncoding	Benign
5	13862860	A	ATATATATG	A13862865T	DNAH5	NM_001369.3(DNAH5):c.4597-114_4597-113insTATACATA	noncoding	Benign
5	13862860	A	ATATATG	A13862865T	DNAH5	NM_001369.3(DNAH5):c.4597-114_4597-113insTATACA	noncoding	Benign
5	13864442	T	TCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCC	A13864446T	DNAH5	NM_001369.3(DNAH5):c.4550_4551insGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAG:p.Asn1518fs	coding	Pathogenic
5	13864476	CTG	C	T13864479C	DNAH5	NM_001369.3(DNAH5):c.4515_4516del:p.His1505fs	coding	Pathogenic
5	13864617	G	GC	G13864621C	DNAH5	NM_001369.3(DNAH5):c.4375dup:p.Ala1459fs	coding	Pathogenic
5	13865708	TA	T	A13865709T	DNAH5	NM_001369.3(DNAH5):c.4314del:p.Asn1438fs	coding	Pathogenic
5	13866251	T	TG	C13866256G	DNAH5	NM_001369.3(DNAH5):c.4084dup:p.Gln1362fs	coding	Pathogenic
5	13867616	G	GAAA	T13867625A	DNAH5	NM_001369.3(DNAH5):c.4053+150_4053+152dup	noncoding	Benign
5	13867616	G	GAA	T13867625A	DNAH5	NM_001369.3(DNAH5):c.4053+150_4053+151dup	noncoding	Benign/Likely_benign
5	13867994	TAA	T	A13868002T	DNAH5	NM_001369.3(DNAH5):c.3835-4_3835-3del	noncoding	Benign
5	13867994	T	TAA	T13868004A	DNAH5	NM_001369.3(DNAH5):c.3835-4_3835-3dup	noncoding	Benign
5	13868007	GA	G	A13868012C	DNAH5	NM_001369.3(DNAH5):c.3835-16del	noncoding	Benign
5	13871583	AC	A	C13871586A	DNAH5	NM_001369.3(DNAH5):c.3578del:p.Gly1193fs	coding	Pathogenic
5	13871657	AT	A	T13871659C	DNAH5	NM_001369.3(DNAH5):c.3504del:p.Glu1168fs	coding	Pathogenic
5	13876819	TA	T	A13876824G	DNAH5	NM_001369.3(DNAH5):c.3263-3del	noncoding	Benign
5	13877014	C	CA	G13877020A	DNAH5	NM_001369.3(DNAH5):c.3263-202dup	noncoding	Benign
5	13882915	G	GTTCACTGC	C13882925T	DNAH5	NM_001369.3(DNAH5):c.3155_3162dup:p.Leu1055fs	coding	Pathogenic
5	13883057	CA	C	A13883060C	DNAH5	NM_001369.3(DNAH5):c.3020del:p.Leu1007fs	coding	Pathogenic
5	13884914	GCA	G	C13884933T	DNAH5	NM_001369.3(DNAH5):c.2983+55TG[9]	noncoding	Benign
5	13885137	CT	C	T13885142C	DNAH5	NM_001369.3(DNAH5):c.2834del:p.Lys945fs	coding	Pathogenic
5	13885279	GGATA	G	T13885286C	DNAH5	NM_001369.3(DNAH5):c.2744-55_2744-52del	noncoding	Benign
5	13886135	CAAAAA	C	A13886150G	DNAH5	NM_001369.3(DNAH5):c.2578-11_2578-7del	noncoding	Benign
5	13886135	C	CA	G13886155A	DNAH5	NM_001369.3(DNAH5):c.2578-25dup	noncoding	Benign
5	13891128	G	GA	T13891135A	DNAH5	NM_001369.3(DNAH5):c.2432-13dup	noncoding	Benign
5	13894818	T	TC	A13894820C	DNAH5	NM_001369.3(DNAH5):c.2262dup:p.Met755fs	coding	Pathogenic
5	13894943	TGGCA	T	C13894946T	DNAH5	NM_001369.3(DNAH5):c.2260-126_2260-123del	noncoding	Benign
5	13894945	GCAGGTAGAGTAGCCAAAACAATAAAAAGAAAAGAAGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC	G	C13894946A	DNAH5	NM_001369.3(DNAH5):c.2260-444_2260-125del	noncoding	Benign
5	13894973	GAAAAGAAGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA	G	G13894984A	DNAH5	NM_001369.3(DNAH5):c.2260-449_2260-153del	noncoding	Benign
5	13911591	GAA	G	A13911598T	DNAH5	NM_001369.3(DNAH5):c.1537-100_1537-99del	noncoding	Benign
5	13913898	GT	G	T13913902G	DNAH5	NM_001369.3(DNAH5):c.1380del:p.Lys460fs	coding	Pathogenic
5	13913923	CTTTTG	C	T13913930C	DNAH5	NM_001369.3(DNAH5):c.1351_1355del:p.Gln451fs	coding	Pathogenic
5	13913967	CA	C	A13913971G	DNAH5	NM_001369.3(DNAH5):c.1321-10del	noncoding	Benign
5	13919191	C	CTT	G13919194T	DNAH5	NM_001369.3(DNAH5):c.958_959dup:p.Lys322fs	coding	Pathogenic
5	13919273	C	CT	C13919281T	DNAH5	NM_001369.3(DNAH5):c.877dup:p.Arg293fs	coding	Pathogenic
5	13920548	CTAGAGTCAAGTAG	C	A13920550C	DNAH5	NM_001369.3(DNAH5):c.717_729del:p.Asp239fs	coding	Pathogenic
5	13923341	AC	A	C13923345A	DNAH5	NM_001369.3(DNAH5):c.376del:p.Val126fs	coding	Pathogenic/Likely_pathogenic
5	13923359	TCGTTTCCCTCGGTCACGAA	T	G13923361A	DNAH5	NM_001369.3(DNAH5):c.340_358del:p.Phe114fs	coding	Pathogenic
5	14330646	AT	A	T14330655C	TRIO	NM_007118.4(TRIO):c.1732-123del	noncoding	Benign
5	14358547	GT	G	T14358551A	TRIO	NM_007118.4(TRIO):c.2216+204del	noncoding	Benign
5	14364378	C	CA	C14364387A	TRIO	NM_007118.4(TRIO):c.2588-264dup	noncoding	Benign
5	14387517	T	TA	T14387525A	TRIO	NM_007118.4(TRIO):c.3657dup:p.Cys1220fs	coding	Pathogenic/Likely_pathogenic
5	14388688	G	GT	G14388707T	TRIO	NM_007118.4(TRIO):c.3948+27dup	noncoding	Benign
5	14388688	G	GTT	G14388707T	TRIO	NM_007118.4(TRIO):c.3948+26_3948+27dup	noncoding	Benign
5	14388688	GT	G	T14388706G	TRIO	NM_007118.4(TRIO):c.3948+27del	noncoding	Benign
5	14398793	AT	A	T14398795G	TRIO	NM_007118.4(TRIO):c.4424-85del	noncoding	Benign
5	14405734	TAA	T	A14405738G	TRIO	NM_007118.4(TRIO):c.4717-110_4717-109del	noncoding	Benign
5	14461304	TCGAGGAGGTGAGGCTCTG	T	G14461306C	TRIO	NM_007118.4(TRIO):c.5491_5496+12del	coding	Pathogenic
5	14465910	CAG	C	A14465911G	TRIO	NM_007118.4(TRIO):c.5763+271_5763+272del	noncoding	Benign
5	14471113	T	TTTCTC	T14471116C	TRIO	NM_007118.4(TRIO):c.5764-203_5764-202insCTCTT	noncoding	Benign
5	14476894	C	CT	A14476903T	TRIO	NM_007118.4(TRIO):c.6092dup:p.Leu2031fs	coding	Pathogenic/Likely_pathogenic
5	14479002	G	GGT	T14479007G	TRIO	NM_007118.4(TRIO):c.6154-258GT[3]	noncoding	Benign
5	14480170	TA	T	A14480172C	TRIO	NM_007118.4(TRIO):c.6336+161del	noncoding	Benign
5	14482665	CAG	C	A14482672G	TRIO	NM_007118.4(TRIO):c.6556_6557del:p.Arg2186fs	coding	Pathogenic
5	14487459	T	TA	C14487461A	TRIO	NM_007118.4(TRIO):c.6836-4dup	noncoding	Benign/Likely_benign
5	14487807	G	GC	G14487814C	TRIO	NM_007118.4(TRIO):c.7185dup:p.Gly2396fs	coding	Pathogenic
5	14492695	CAT	C	A14492696G	TRIO	NM_007118.4(TRIO):c.7762_7763del:p.Met2588fs	coding	Pathogenic
5	14504860	A	AC	A14504869C	TRIO	NM_007118.4(TRIO):c.8612+275dup	noncoding	Benign
5	14507409	A	ATC	A14507421C	TRIO	NM_007118.4(TRIO):c.8751+150TC[6]	noncoding	Benign
5	14664886	CCGGCGCGGGAGGCGGCGGCCA	C	G14664897C	OTULIN	NM_138348.6(OTULIN):c.72_92del:p.Glu24_Arg30del	coding	Benign
5	14664988	GGGGGCGC	G	G14664999C	OTULIN	NM_138348.6(OTULIN):c.152+22_152+28del	noncoding	Benign
5	14664988	G	GGGGGCGC	C14665006G	OTULIN	NM_138348.6(OTULIN):c.152+12GGGGCGC[3]	noncoding	Benign
5	14769203	GA	G	A14769210C	ANKH	NM_054027.6(ANKH):c.97-13del	noncoding	Benign/Likely_benign
5	14871811	G	GCGC	C14871834G	ANKH	Single_allele	noncoding	Benign
5	16478929	GT	G	T16478930A	RETREG1	NM_001034850.3(RETREG1):c.728del:p.Tyr243fs	coding	Pathogenic
5	16481057	T	TAAAAAATGTGCACACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T16481075G	RETREG1	NM_001034850.3(RETREG1):c.621_622insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCTACGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTGTGTGCACATTTTTT:p.Thr208delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer	coding	Pathogenic
5	16483488	G	GA	T16483497A	RETREG1	NM_001034850.3(RETREG1):c.459-17dup	noncoding	Benign/Likely_benign
5	16508720	AG	A	G16508722A	RETREG1	NM_001034850.3(RETREG1):c.459-25249del	coding	Benign
5	16509038	C	CT	C16509055T	RETREG1	NM_001034850.3(RETREG1):c.459-25582dup	noncoding	Benign
5	16509038	C	CTT	C16509055T	RETREG1	NM_001034850.3(RETREG1):c.459-25582_459-25581dup	noncoding	Benign
5	16572213	C	CT	G16572231T	RETREG1	NM_001034850.3(RETREG1):c.321-128dup	noncoding	Benign
5	16572213	CT	C	T16572230G	RETREG1	NM_001034850.3(RETREG1):c.321-112del	noncoding	Benign
5	16616900	CGGCGCCTGCTCCTCGGCGGCAGGAGCCG	C	G16616904A	RETREG1	NM_001034850.3(RETREG1):c.44_71del:p.Pro15fs	coding	Pathogenic
5	16616922	GGA	G	A16616924C	RETREG1	NM_001034850.3(RETREG1):c.48_49del:p.Pro17fs	coding	Pathogenic
5	32711547	A	ACTTTTT	T32711572C	NPR3	NM_001204375.2(NPR3):c.-229CTTTTT[5]	coding	Benign
5	32711571	T	TC	T32711572C	NPR3	NM_001204375.2(NPR3):c.-206_-205insC	coding	Benign
5	32711576	T	TTTTTA	A32711577T	NPR3	NM_001204375.2(NPR3):c.-201_-200insTTTTA	coding	Benign
5	32712023	GT	G	T32712024G	NPR3	NM_001204375.2(NPR3):c.248del:p.Val83fs	coding	Pathogenic
5	32739180	TG	T	G32739181T	NPR3	NM_001204375.2(NPR3):c.1059+151del	noncoding	Benign
5	32739182	TG	T	G32739183T	NPR3	NM_001204375.2(NPR3):c.1059+153del	noncoding	Benign
5	32739183	G	GT	C32739196T	NPR3	NM_001204375.2(NPR3):c.1059+165dup	noncoding	Benign
5	32739191	T	TA	T32739192A	NPR3	NM_001204375.2(NPR3):c.1059+161_1059+162insA	noncoding	Benign
5	32780828	AG	A	G32780829A	NPR3	NM_001204375.2(NPR3):c.1290+13del	noncoding	Benign
5	32786242	AC	A	C32786243A	NPR3	NM_001204375.2(NPR3):c.1524del:p.Lys507_Tyr508insTer	coding	Pathogenic
5	33947225	T	TG	A33947228G	SLC45A2	NM_016180.5(SLC45A2):c.1305dup:p.Ser436fs	coding	Pathogenic
5	33947363	CTT	C	T33947365C	SLC45A2	NM_016180.5(SLC45A2):c.1166_1167del:p.Lys389fs	coding	Pathogenic
5	33954405	CT	C	T33954406G	SLC45A2	NM_016180.5(SLC45A2):c.987del:p.Ala330fs	coding	Pathogenic
5	33963463	TAC	T	A33963464C	SLC45A2	NM_016180.5(SLC45A2):c.888+226_888+227del	noncoding	Benign
5	33963626	AAAC	A	C33963641A	SLC45A2	NM_016180.5(SLC45A2):c.888+50GTT[4]	noncoding	Benign
5	33963776	T	TA	C33963778A	SLC45A2	NM_016180.5(SLC45A2):c.802dup:p.Tyr268fs	coding	Pathogenic
5	33963952	T	TC	T33963954C	SLC45A2	NM_016180.5(SLC45A2):c.626dup:p.Leu210fs	coding	Pathogenic
5	33963961	C	CTCCA	G33963966T	SLC45A2	NM_016180.5(SLC45A2):c.614_617dup:p.Glu206fs	coding	Pathogenic
5	33982263	C	CCT	T33982266C	SLC45A2	NM_016180.5(SLC45A2):c.533_534dup:p.Gly179fs	coding	Pathogenic
5	34008101	CCGGCGCCACGCCCCCAGCCG	C	A34008109G	AMACR	Single_allele	noncoding	Benign
5	34936167	TG	T	G34936168T	DNAJC21	NM_001012339.3(DNAJC21):c.340del:p.Val114fs	coding	Pathogenic
5	34936263	T	TA	C34936265A	DNAJC21	NM_001012339.3(DNAJC21):c.436dup:p.Thr146fs	coding	Pathogenic
5	34937528	A	AT	A34937530T	DNAJC21	NM_001012339.3(DNAJC21):c.642dup:p.Lys215Ter	coding	Pathogenic
5	34937530	AA	TTT	A34937530T	DNAJC21	NM_001012339.3(DNAJC21):c.643_644delinsTTT:p.Lys215fs	coding	Pathogenic
5	34945781	AAAAG	A	G34945785C	DNAJC21	NM_001012339.3(DNAJC21):c.1167_1170del:p.Lys389fs	coding	Pathogenic
5	34950206	G	GA	G34950209A	DNAJC21	NM_001012339.3(DNAJC21):c.1224dup:p.Gly409fs	coding	Pathogenic
5	35694385	TC	T	C35694386T	SPEF2	NM_024867.4(SPEF2):c.1975+23del	noncoding	Benign
5	35705987	AT	A	T35705993C	SPEF2	NM_024867.4(SPEF2):c.2665+185del	noncoding	Benign
5	35763775	AG	A	G35763776T	SPEF2	NM_024867.4(SPEF2):c.3801+74del	noncoding	Benign
5	35771949	TG	T	G35771950T	SPEF2	NM_024867.4(SPEF2):c.3949+194del	noncoding	Benign
5	35857008	GT	G	T35857014C	IL7R	NM_002185.5(IL7R):c.37del:p.Ser13fs	coding	Pathogenic
5	35857206	T	TC	T35857207C	IL7R	NM_002185.5(IL7R):c.82+147_82+148insC	noncoding	Benign
5	35871142	CA	C	A35871146G	IL7R	NM_002185.5(IL7R):c.470del:p.Lys157fs	coding	Pathogenic
5	35871188	AG	A	G35871190A	IL7R	NM_002185.5(IL7R):c.514del:p.Glu172fs	coding	Pathogenic
5	36197827	C	CA	C36197834A	NADK2	NM_001085411.3(NADK2):c.1067-169dup	noncoding	Benign
5	36200307	G	GTA	G36200311A	NADK2	NM_001085411.3(NADK2):c.1013-29_1013-28dup	noncoding	Benign
5	36201169	CA	C	A36201174T	NADK2	NM_001085411.3(NADK2):c.957-9del	noncoding	Benign
5	36207446	T	TA	C36207460A	NADK2	NM_001085411.3(NADK2):c.861-194dup	noncoding	Benign
5	36211835	TA	T	A36211839G	NADK2	NM_001085411.3(NADK2):c.860+8del	noncoding	Benign
5	36217662	G	GTTAATCA	A36217664T	NADK2	NM_001085411.3(NADK2):c.781+85_781+86insATGATTA	noncoding	Benign
5	36242399	TGCAGGCC	T	C36242401A	NADK2	Single_allele	noncoding	Benign
5	36953702	T	TG	A36953707G	NIPBL	NM_133433.4(NIPBL):c.10dup:p.Asp4fs	coding	Pathogenic
5	36957983	CAA	C	A36958000T	NIPBL	NM_133433.4(NIPBL):c.231-104_231-103del	noncoding	Benign
5	36957983	CA	C	A36958001T	NIPBL	NM_133433.4(NIPBL):c.231-103del	noncoding	Benign
5	36958174	GCAAGGAGTCC	G	C36958175T	NIPBL	NM_133433.4(NIPBL):c.302_311del:p.Ala101fs	coding	Pathogenic
5	36961564	A	ATC	A36961569T	NIPBL	NM_133433.4(NIPBL):c.442_443dup:p.Ser150fs	coding	Pathogenic
5	36971267	T	TA	T36971281A	NIPBL	NM_133433.4(NIPBL):c.771+244dup	noncoding	Benign
5	36971966	A	ATTCC	G36971967T	NIPBL	NM_133433.4(NIPBL):c.793_794insTTCC:p.Arg265fs	coding	Pathogenic
5	36976363	A	AT	G36976366T	NIPBL	NM_133433.4(NIPBL):c.1458dup:p.Glu487Ter	coding	Pathogenic
5	36984686	G	GA	G36984694A	NIPBL	NM_133433.4(NIPBL):c.1513dup:p.Arg505fs	coding	Pathogenic
5	36984831	G	GTGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGAA	T36984932A	NIPBL	NM_133433.4:c.1751_1752ins[A;1652_1751]	coding	Pathogenic
5	36984850	TA	T	A36984852C	NIPBL	NM_133433.4(NIPBL):c.1672del:p.Thr558fs	coding	Pathogenic
5	36984964	ACCATC	A	C36984966T	NIPBL	NM_133433.4(NIPBL):c.1786_1790del:p.Asn595_His596insTer	coding	Pathogenic
5	36985006	CAA	C	A36985008G	NIPBL	NM_133433.4(NIPBL):c.1828_1829del:p.Lys610fs	coding	Pathogenic
5	36985119	CA	C	A36985122C	NIPBL	NM_133433.4(NIPBL):c.1942del:p.Thr648fs	coding	Pathogenic
5	36985385	TC	T	C36985387A	NIPBL	NM_133433.4(NIPBL):c.2207del:p.Pro736fs	coding	Pathogenic
5	36986015	G	GT	G36986018T	NIPBL	NM_133433.4(NIPBL):c.2837dup:p.Leu946fs	coding	Pathogenic
5	36986176	CT	C	T36986177A	NIPBL	NM_133433.4(NIPBL):c.2997del:p.Lys1000fs	coding	Pathogenic
5	36986219	TC	T	C36986220A	NIPBL	NM_133433.4(NIPBL):c.3040del:p.Gln1014fs	coding	Pathogenic
5	36995677	TG	T	G36995678A	NIPBL	NM_133433.4(NIPBL):c.3178del:p.Glu1060fs	coding	Pathogenic
5	36995933	G	GT	C36995941T	NIPBL	NM_133433.4(NIPBL):c.3304+136dup	noncoding	Benign
5	37006437	T	TA	C37006439A	NIPBL	NM_133433.4(NIPBL):c.3937dup:p.Thr1313fs	coding	Pathogenic
5	37010118	A	ATG	A37010122G	NIPBL	NM_133433.4(NIPBL):c.4455_4456dup:p.Tyr1486fs	coding	Pathogenic
5	37010161	A	AGT	G37010169T	NIPBL	NM_133433.4(NIPBL):c.4502_4503dup:p.Val1502fs	coding	Pathogenic
5	37010219	TA	T	A37010225G	NIPBL	NM_133433.4(NIPBL):c.4561del:p.Ile1521fs	coding	Pathogenic
5	37014761	AAAAAGTGAGT	A	G37014766T	NIPBL	NM_133433.4(NIPBL):c.4643+1_4643+10del	coding	Pathogenic
5	37016065	T	TTACAGACCACTGTTTGAAAATTTTGTTCAAGACCTTCTTTCAACAGTCAATAAGCCTGAATGGCCAGCTGCTGAAC	T37016145A	NIPBL	NM_133433.4(NIPBL):c.4675_4750dup:p.Leu1584delinsGlnThrThrValTer	coding	Pathogenic
5	37020817	TG	T	G37020818T	NIPBL	NM_133433.4(NIPBL):c.5269del:p.Val1757fs	coding	Pathogenic
5	37024644	ACAAC	A	C37024649A	NIPBL	NM_133433.4(NIPBL):c.5639_5642del:p.Pro1880fs	coding	Pathogenic
5	37026241	G	GA	C37026245A	NIPBL	NM_133433.4(NIPBL):c.5725dup:p.Thr1909fs	coding	Pathogenic
5	37027370	CAGAGATACTGGAT	C	G37027372T	NIPBL	NM_133433.4(NIPBL):c.5822_5834del:p.Arg1941fs	coding	Pathogenic
5	37027474	G	GT	G37027488T	NIPBL	NM_133433.4(NIPBL):c.5862+75dup	noncoding	Benign
5	37038656	TGTTC	T	G37038657T	NIPBL	NM_133433.4(NIPBL):c.6027_6030del:p.Leu2009fs	coding	Pathogenic
5	37038708	T	TATGC	A37038714T	NIPBL	NM_133433.4(NIPBL):c.6080_6083dup:p.Gln2028fs	coding	Pathogenic
5	37046185	C	CT	A37046187T	NIPBL	NM_133433.4(NIPBL):c.6576dup:p.Ile2193fs	coding	Pathogenic
5	37048587	CTCAG	C	G37048591A	NIPBL	NM_133433.4(NIPBL):c.6679_6682del:p.Val2227fs	coding	Pathogenic
5	37048946	G	GACAC	T37048971A	NIPBL	NM_133433.4(NIPBL):c.6764-164AC[14]	noncoding	Benign
5	37048946	G	GAC	T37048971A	NIPBL	NM_133433.4(NIPBL):c.6764-164AC[13]	noncoding	Benign
5	37051836	GC	G	C37051837T	NIPBL	NM_133433.4(NIPBL):c.7013del:p.Ala2338fs	coding	Pathogenic
5	37060988	G	GA	G37060993A	NIPBL	NM_133433.4(NIPBL):c.7834dup:p.Arg2612fs	coding	Pathogenic
5	37061011	AT	A	T37061012C	NIPBL	NM_133433.4(NIPBL):c.7854del:p.Tyr2618_Leu2619insTer	coding	Pathogenic
5	37063875	C	CA	T37063878A	NIPBL	NM_133433.4(NIPBL):c.7948dup:p.Ile2650fs	coding	Pathogenic
5	37064796	CA	C	A37064803T	NIPBL	NM_133433.4(NIPBL):c.8326del:p.Ile2776fs	coding	Pathogenic
5	37064796	C	CA	T37064804A	NIPBL	NM_133433.4(NIPBL):c.8326dup:p.Ile2776fs	coding	Pathogenic
5	37064849	CTT	C	T37064851A	NIPBL	NM_133433.4(NIPBL):c.8374_8375del:p.Leu2792fs	coding	Pathogenic
5	37108311	AC	A	C37108312T	CPLANE1	NM_001384732.1(CPLANE1):c.9560del:p.Ser3187fs	coding	Pathogenic
5	37114898	CA	C	A37114912G	CPLANE1	NM_001384732.1(CPLANE1):c.9400+61del	noncoding	Benign
5	37120201	AGCTTTAAGTCTTACCATGTGGCCAAGGTGAGCCTTGAGGTTGCCCAAAAGACTTCCTCTTATGGATATAACTCGGTTTG	A	C37120203A	CPLANE1	NM_001384732.1(CPLANE1):c.9246_9310+14del	noncoding	Pathogenic
5	37125458	CAGATA	C	A37125464T	CPLANE1	NM_001384732.1(CPLANE1):c.8793-54_8793-50del	noncoding	Benign
5	37139372	T	TA	T37139383A	CPLANE1	NM_001384732.1(CPLANE1):c.8633-3dup	noncoding	Benign
5	37142372	AAC	A	C37142378G	CPLANE1	NM_001384732.1(CPLANE1):c.8568_8569del:p.Phe2857fs	coding	Pathogenic
5	37142450	T	TC	T37142452C	CPLANE1	NM_001384732.1(CPLANE1):c.8491dup:p.Asp2831fs	coding	Pathogenic
5	37157932	C	CAA	G37157959A	CPLANE1	NM_001384732.1(CPLANE1):c.7813-90_7813-89dup	noncoding	Benign
5	37157932	C	CA	G37157959A	CPLANE1	NM_001384732.1(CPLANE1):c.7813-90dup	noncoding	Benign
5	37165605	AT	A	T37165608G	CPLANE1	NM_001384732.1(CPLANE1):c.7466del:p.Asn2489fs	coding	Pathogenic
5	37166920	TGAAAA	T	G37166926C	CPLANE1	NM_001384732.1(CPLANE1):c.7400+122_7400+126del	noncoding	Benign
5	37167047	CT	C	T37167054A	CPLANE1	NM_001384732.1(CPLANE1):c.7399del:p.Arg2467fs	coding	Pathogenic
5	37167126	CT	C	T37167128G	CPLANE1	NM_001384732.1(CPLANE1):c.7320del:p.Gly2441fs	coding	Pathogenic
5	37168507	A	AT	A37168517T	CPLANE1	NM_001384732.1(CPLANE1):c.7233+275dup	noncoding	Benign
5	37168991	TA	T	A37168993C	CPLANE1	NM_001384732.1(CPLANE1):c.7032del:p.Lys2345fs	coding	Pathogenic
5	37169003	G	GT	C37169009T	CPLANE1	NM_001384732.1(CPLANE1):c.7020dup:p.Leu2341fs	coding	Pathogenic
5	37169467	GA	G	A37169469G	CPLANE1	NM_001384732.1(CPLANE1):c.6556del:p.Ser2186fs	coding	Pathogenic
5	37169546	TC	T	C37169549A	CPLANE1	NM_001384732.1(CPLANE1):c.6477del:p.Ser2160fs	coding	Pathogenic
5	37169570	G	GA	G37169577A	CPLANE1	NM_001384732.1(CPLANE1):c.6463-10dup	noncoding	Benign
5	37177605	CT	C	T37177611C	CPLANE1	NM_001384732.1(CPLANE1):c.5900+15del	noncoding	Benign
5	37180124	GA	G	A37180127T	CPLANE1	NM_001384732.1(CPLANE1):c.5629del:p.Ser1877fs	coding	Pathogenic
5	37180159	A	AT	G37180166T	CPLANE1	NM_001384732.1(CPLANE1):c.5594dup:p.Asn1865fs	coding	Pathogenic
5	37180249	G	GT	G37180260T	CPLANE1	NM_001384732.1(CPLANE1):c.5571-76dup	noncoding	Benign
5	37182914	CT	C	T37182915A	CPLANE1	NM_001384732.1(CPLANE1):c.5266del:p.Arg1756fs	coding	Pathogenic
5	37183706	C	CA	T37183714A	CPLANE1	NM_001384732.1(CPLANE1):c.4482-8dup	noncoding	Benign
5	37186319	G	GA	G37186321A	CPLANE1	NM_001384732.1(CPLANE1):c.4155dup:p.Leu1386fs	coding	Pathogenic
5	37187741	CTTTTACA	C	A37187746C	CPLANE1	NM_001384732.1(CPLANE1):c.3906_3912del:p.Asn1302fs	coding	Pathogenic
5	37187824	C	CA	G37187828A	CPLANE1	NM_001384732.1(CPLANE1):c.3829dup:p.Cys1277fs	coding	Pathogenic
5	37195681	GACTT	G	T37195685A	CPLANE1	NM_001384732.1(CPLANE1):c.3811+173_3811+176del	noncoding	Benign
5	37196178	C	CA	G37196191A	CPLANE1	NM_001384732.1(CPLANE1):c.3673-194dup	noncoding	Benign
5	37198435	GA	G	A37198447C	CPLANE1	NM_001384732.1(CPLANE1):c.3672+266del	noncoding	Benign
5	37205399	G	GA	T37205405A	CPLANE1	NM_001384732.1(CPLANE1):c.3204dup:p.Gln1069fs	coding	Pathogenic
5	37206312	CAATA	C	A37206317G	CPLANE1	NM_001384732.1(CPLANE1):c.3030_3033del:p.Phe1010fs	coding	Pathogenic
5	37206408	T	TA	G37206411A	CPLANE1	NM_001384732.1(CPLANE1):c.2937dup:p.Ile980fs	coding	Pathogenic
5	37206521	C	CA	C37206528A	CPLANE1	NM_001384732.1(CPLANE1):c.2921-102dup	noncoding	Benign
5	37221307	GAA	G	A37221316G	CPLANE1	NM_001384732.1(CPLANE1):c.2746+15_2746+16del	noncoding	Benign
5	37221307	GA	G	A37221317G	CPLANE1	NM_001384732.1(CPLANE1):c.2746+16del	noncoding	Benign
5	37221307	G	GA	G37221318A	CPLANE1	NM_001384732.1(CPLANE1):c.2746+16dup	noncoding	Benign
5	37221326	G	GA	T37221332A	CPLANE1	NM_001384732.1(CPLANE1):c.2743dup:p.Ser915fs	coding	Pathogenic
5	37224946	CT	C	T37224966A	CPLANE1	NM_001384732.1(CPLANE1):c.2292-207del	noncoding	Benign
5	37227084	A	AG	A37227089G	CPLANE1	NM_001384732.1(CPLANE1):c.1522-12dup	noncoding	Benign
5	37227088	GAA	G	A37227094T	CPLANE1	NM_001384732.1(CPLANE1):c.1522-17_1522-16del	noncoding	Benign
5	37227088	G	GA	T37227096A	CPLANE1	NM_001384732.1(CPLANE1):c.1522-16dup	noncoding	Benign
5	37227344	T	TGA	A37227345G	CPLANE1	NM_001384732.1(CPLANE1):c.1419_1420insTC:p.Leu475fs	coding	Pathogenic
5	37227738	ATC	A	C37227742G	CPLANE1	NM_001384732.1(CPLANE1):c.1199_1200del:p.Arg400fs	coding	Pathogenic
5	37230943	T	TTAGC	A37230948T	CPLANE1	NM_001384732.1(CPLANE1):c.1041_1044dup:p.Thr349fs	coding	Pathogenic
5	37245297	CTATATATA	C	T37245344C	CPLANE1	NM_001384732.1(CPLANE1):c.337+128TA[23]	noncoding	Benign
5	37245297	CTATATATATATA	C	T37245340C	CPLANE1	NM_001384732.1(CPLANE1):c.337+128TA[21]	noncoding	Benign
5	37245297	CTATATATATATATA	C	T37245338C	CPLANE1	NM_001384732.1(CPLANE1):c.337+128TA[20]	noncoding	Benign
5	37245297	CTATATATATATATATA	C	T37245336C	CPLANE1	NM_001384732.1(CPLANE1):c.337+128TA[19]	noncoding	Benign
5	37245297	CTATATATATATATATATATA	C	T37245332C	CPLANE1	NM_001384732.1(CPLANE1):c.337+128TA[17]	noncoding	Benign
5	37245297	CTATATATATATATATATATATA	C	T37245330C	CPLANE1	NM_001384732.1(CPLANE1):c.337+128TA[16]	noncoding	Benign
5	37246152	CT	C	T37246171A	CPLANE1	NM_001384732.1(CPLANE1):c.82-308del	noncoding	Benign
5	37309269	TAGA	T	A37309273G	NUP155	NM_153485.3(NUP155):c.2629-5_2629-3del	noncoding	Benign
5	37342699	TA	T	A37342701G	NUP155	NM_153485.3(NUP155):c.996-54del	noncoding	Benign
5	37348497	CAT	C	A37348498G	NUP155	NM_153485.3(NUP155):c.995+6_995+7del	noncoding	Benign
5	37349058	C	CT	A37349072T	NUP155	NM_153485.3(NUP155):c.903+101dup	noncoding	Benign
5	37349058	CT	C	T37349071A	NUP155	NM_153485.3(NUP155):c.903+113del	noncoding	Benign
5	37349258	CA	C	A37349270G	NUP155	NM_153485.3(NUP155):c.830-14del	noncoding	Benign
5	37349258	C	CA	G37349271A	NUP155	NM_153485.3(NUP155):c.830-25dup	noncoding	Benign
5	37350050	TTAACA	T	T37350056A	NUP155	NM_153485.3(NUP155):c.829+105_829+109del	noncoding	Benign
5	37352882	AGAGT	A	G37352883A	NUP155	NM_153485.3(NUP155):c.464-57_464-54del	noncoding	Benign
5	37815487	TTCC	T	C37815520T	GDNF	NM_000514.4(GDNF):c.*131GGA[10]	noncoding	Benign/Likely_benign
5	37815487	TTCCTCC	T	C37815517T	GDNF	NM_000514.4(GDNF):c.*131GGA[9]	noncoding	Benign
5	37815487	T	TTCC	T37815523C	GDNF	NM_000514.4(GDNF):c.*131GGA[12]	noncoding	Benign
5	38482336	TCTGTATTTCACACAACAGCACAGCC	T	C38482337A	LIFR	NM_001127671.2(LIFR):c.2671-143_2671-119del	noncoding	Benign
5	38482366	T	TCGGA	T38482367C	LIFR	NM_001127671.2(LIFR):c.2671-149_2671-148insTCCG	noncoding	Benign
5	38482369	TC	T	C38482370T	LIFR	NM_001127671.2(LIFR):c.2671-152del	noncoding	Benign
5	38482375	G	GAAAA	T38482376A	LIFR	NM_001127671.2(LIFR):c.2671-158_2671-157insTTTT	noncoding	Benign
5	38484853	ATAAT	A	T38484858C	LIFR	NM_001127671.2(LIFR):c.2509_2512del:p.Ile837fs	coding	Pathogenic
5	38485927	TCA	T	C38485928G	LIFR	NM_001127671.2(LIFR):c.2387_2388del:p.Leu796fs	coding	Pathogenic
5	38485958	CTTAACTT	C	A38485962T	LIFR	NM_001127671.2(LIFR):c.2351_2357del:p.Lys784fs	coding	Pathogenic
5	38485983	A	AT	A38485989T	LIFR	NM_001127671.2(LIFR):c.2336-4dup	noncoding	Benign
5	38489085	T	TAA	C38489090A	LIFR	NM_001127671.2(LIFR):c.2326_2327dup:p.Leu776fs	coding	Pathogenic
5	38490257	G	GA	T38490264A	LIFR	NM_001127671.2(LIFR):c.2099dup:p.Leu701fs	coding	Pathogenic
5	38493616	TAC	T	C38493618G	LIFR	NM_001127671.2(LIFR):c.2053_2054del:p.Val685fs	coding	Pathogenic
5	38496484	C	CTG	C38496487T	LIFR	NM_001127671.2(LIFR):c.1781_1782dup:p.Glu595fs	coding	Pathogenic
5	38499557	T	TC	A38499560C	LIFR	NM_001127671.2(LIFR):c.1626dup:p.Arg543fs	coding	Pathogenic
5	38499561	AG	A	G38499562T	LIFR	NM_001127671.2(LIFR):c.1622del:p.Thr541fs	coding	Pathogenic
5	38499585	TA	T	A38499590G	LIFR	NM_001127671.2(LIFR):c.1601-3del	noncoding	Benign
5	38502754	CAACAAGAT	C	A38502758T	LIFR	NM_001127671.2(LIFR):c.1475_1482del:p.Tyr492fs	coding	Pathogenic
5	38502765	CT	C	T38502767G	LIFR	NM_001127671.2(LIFR):c.1471del:p.Ser491fs	coding	Pathogenic
5	38503983	T	TA	G38503984A	LIFR	NM_001127671.2(LIFR):c.1429_1430insT:p.Gln477fs	coding	Pathogenic
5	38503994	AG	A	G38503995A	LIFR	NM_001127671.2(LIFR):c.1418del:p.Ser473fs	coding	Pathogenic
5	38504138	TAA	T	A38504140G	LIFR	NM_001127671.2(LIFR):c.1292-19_1292-18del	noncoding	Benign
5	38505905	CT	C	T38505910C	LIFR	NM_001127671.2(LIFR):c.1290del:p.Val431fs	coding	Pathogenic
5	38510379	AC	A	C38510386A	LIFR	NM_001127671.2(LIFR):c.991+84del	noncoding	Benign
5	38510539	CAGAA	C	G38510541T	LIFR	NM_001127671.2(LIFR):c.912_915del:p.Ile304fs	coding	Pathogenic/Likely_pathogenic
5	38510726	G	GA	G38510732A	LIFR	NM_001127671.2(LIFR):c.737-13dup	noncoding	Benign
5	38528806	ATTGT	A	T38528808A	LIFR	NM_001127671.2(LIFR):c.173_176del:p.Asn58fs	coding	Pathogenic
5	38528842	TGGA	T	G38528847A	LIFR	NM_001127671.2(LIFR):c.143-5_143-3del	noncoding	Benign/Likely_benign
5	38528849	GACACACAC	G	C38528871G	LIFR	NM_001127671.2(LIFR):c.143-37GT[10]	noncoding	Benign
5	38528849	G	GACAC	G38528879C	LIFR	NM_001127671.2(LIFR):c.143-37GT[16]	noncoding	Benign
5	38528867	CACACACACACAG	C	C38528875T	LIFR	NM_001127671.2(LIFR):c.143-39_143-28del	noncoding	Benign
5	38530383	CA	C	A38530391T	LIFR	NM_001127671.2(LIFR):c.142+122del	noncoding	Benign
5	39126338	AT	A	T39126347C	FYB1	NM_001465.6(FYB1):c.1908-204del	noncoding	Benign
5	39127450	CA	C	A39127473T	FYB1	NM_001465.6(FYB1):c.1907+290del	noncoding	Benign
5	39127450	C	CAA	T39127474A	FYB1	NM_001465.6(FYB1):c.1907+268_1907+269dup	noncoding	Benign
5	39153149	G	GAGGAGTTGGTGT	T39153150A	FYB1	NM_001465.6(FYB1):c.1292+298_1292+299insACACCAACTCCT	noncoding	Benign
5	39270926	A	ATG	C39270950G	FYB1	Single_allele	noncoding	Benign
5	39270926	A	ATGTG	C39270950G	FYB1	Single_allele	noncoding	Benign
5	39288902	A	AG	T39288905G	C9	NM_001737.5(C9):c.1465dup:p.Leu489fs	coding	Pathogenic
5	39288948	AC	A	C39288949A	C9	NM_001737.5(C9):c.1419del:p.Ser474fs	coding	Pathogenic
5	39308247	CTCTTTACACAATCA	C	C39308254T	C9	NM_001737.5(C9):c.1209_1222del:p.Asp403fs	coding	Pathogenic/Likely_pathogenic
5	39308284	CAG	C	G39308288T	C9	NM_001737.5(C9):c.1184_1185del:p.Ser395fs	coding	Pathogenic
5	39311174	T	TA	G39311176A	C9	NM_001737.5(C9):c.1073dup:p.Ile359fs	coding	Pathogenic
5	39311205	CTACT	C	T39311206G	C9	NM_001737.5(C9):c.1039_1042del:p.Ser347fs	coding	Pathogenic/Likely_pathogenic
5	39311206	TACTG	A	T39311206A	C9	NM_001737.5(C9):c.1038_1042delinsT:p.Ser347fs	coding	Pathogenic
5	39315841	AC	A	C39315844T	C9	NM_001737.5(C9):c.803del:p.Gly268fs	coding	Pathogenic
5	39315857	GA	G	A39315860T	C9	NM_001737.5(C9):c.787del:p.Ser263fs	coding	Pathogenic
5	39315923	AG	A	G39315924A	C9	NM_001737.5(C9):c.721del:p.Ser240_Leu241insTer	coding	Pathogenic
5	39341134	T	TA	T39341139A	C9	NM_001737.5(C9):c.476+11dup	noncoding	Benign
5	40928626	G	GC	T40928627C	C7	NM_000587.4(C7):c.53_54insC:p.Ser20fs	coding	Pathogenic
5	40931093	AC	A	C40931094T	C7	NM_000587.4(C7):c.93del:p.Phe32fs	coding	Pathogenic
5	40936461	CT	C	T40936462A	C7	NM_000587.4(C7):c.405del:p.Asn136fs	coding	Pathogenic/Likely_pathogenic
5	40937590	TC	T	C40937591A	C7	NM_000587.4(C7):c.468del:p.Asn157fs	coding	Pathogenic
5	40947855	TA	T	A40947861T	C7	NM_000587.4(C7):c.982+16del	noncoding	Benign
5	40949890	A	AT	C40949895T	C7	NM_000587.4(C7):c.983-10dup	noncoding	Benign
5	40958080	GA	G	A40958086C	C7	NM_000587.4(C7):c.1314del:p.Lys438fs	coding	Pathogenic
5	40962068	A	AT	C40962077T	C7	NM_000587.4(C7):c.1662-9dup	noncoding	Benign
5	40962189	A	AT	C40962197T	C7	NM_000587.4(C7):c.1749+24dup	noncoding	Benign
5	40976811	ATG	A	G40976815T	C7	NM_000587.4(C7):c.2140_2141del:p.Val714fs	coding	Pathogenic
5	40979709	T	TAAAAATTCTTTTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATACTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A40979725G	C7	NM_000587.4(C7):c.2166-1_2166insGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATACTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATTCTTTTCAG	noncoding	Pathogenic
5	40979760	GC	G	C40979761A	C7	NM_000587.4(C7):c.2202del:p.Ser734fs	coding	Pathogenic
5	41143013	T	TGA	C41143028G	C6	NM_000065.5(C6):c.2624-21TC[8]	noncoding	Benign
5	41149456	AAC	A	C41149462G	C6	NM_000065.5(C6):c.2406_2407del:p.Val802_Phe803insTer	coding	Pathogenic
5	41149979	TTG	T	G41149981T	C6	NM_000065.5(C6):c.2335_2336del:p.Gln779fs	coding	Pathogenic
5	41154986	TC	T	C41154990T	C6	NM_000065.5(C6):c.2086del:p.Asp696fs	coding	Pathogenic
5	41172264	GT	G	T41172266C	C6	NM_000065.5(C6):c.1251del:p.Glu417fs	coding	Pathogenic
5	41176504	TG	T	G41176505A	C6	NM_000065.5(C6):c.1138del:p.Gln380fs	coding	Pathogenic/Likely_pathogenic
5	41181457	TC	T	C41181464T	C6	NM_000065.5(C6):c.828del:p.Ser277fs	coding	Pathogenic
5	41181457	T	TC	T41181465C	C6	NM_000065.5(C6):c.828dup:p.Ser277fs	coding	Pathogenic
5	41181464	CT	C	T41181465G	C6	NM_000065.5(C6):c.821del:p.Gln274fs	coding	Pathogenic
5	41186072	CA	C	A41186075G	C6	NM_000065.5(C6):c.723del:p.Phe241fs	coding	Pathogenic
5	41731783	GA	G	A41731792T	OXCT1	NM_000436.4(OXCT1):c.1522-14del	noncoding	Benign
5	41731783	G	GA	T41731793A	OXCT1	NM_000436.4(OXCT1):c.1522-14dup	noncoding	Benign
5	41805423	TA	T	A41805439T	OXCT1	NM_000436.4(OXCT1):c.955+143del	noncoding	Benign
5	41805423	T	TA	T41805440A	OXCT1	NM_000436.4(OXCT1):c.955+128dup	noncoding	Benign
5	41840315	TG	T	G41840317A	OXCT1	NM_000436.4(OXCT1):c.732+135del	noncoding	Benign
5	41862760	T	TAA	T41862773A	OXCT1	NM_000436.4(OXCT1):c.79-22_79-21dup	noncoding	Benign
5	41870266	T	TC	G41870272C	OXCT1	NM_000436.4(OXCT1):c.78+10dup	noncoding	Benign/Likely_benign
5	42424171	A	AGTGT	C42424220G	GHR	NM_000163.5(GHR):c.-12+217GT[26]	noncoding	Benign
5	42424171	A	AGTGTGT	C42424220G	GHR	NM_000163.5(GHR):c.-12+217GT[27]	noncoding	Benign
5	42688941	CTT	C	T42688945C	GHR	NM_000163.5(GHR):c.192_193del:p.Ser65fs	coding	Pathogenic
5	42694987	T	TA	C42694989A	GHR	NM_000163.5(GHR):c.338dup:p.Tyr113Ter	coding	Pathogenic
5	42711329	CTA	C	A42711331G	GHR	NM_000163.5(GHR):c.743_744del:p.Tyr248fs	coding	Pathogenic
5	42711344	TC	T	C42711345A	GHR	NM_000163.5(GHR):c.757del:p.Gln253fs	coding	Pathogenic
5	42713370	TG	T	G42713371T	GHR	NM_000163.5(GHR):c.785-58del	noncoding	Benign
5	42718486	GC	G	C42718488A	GHR	NM_000163.5(GHR):c.981del:p.Ile328fs	coding	Pathogenic
5	42719239	AG	A	G42719241C	GHR	NM_000163.5(GHR):c.1734del:p.Arg578fs	coding	Pathogenic
5	43612882	T	TA	T43612883A	NNT	NM_182977.3(NNT):c.152-26_152-25insA	noncoding	Benign
5	43615835	A	AT	C43615842T	NNT	NM_182977.3(NNT):c.382-7dup	noncoding	Benign
5	43644315	AC	A	C43644316A	NNT	NM_182977.3(NNT):c.1089del:p.Leu362_Tyr363insTer	coding	Pathogenic
5	43656052	AT	A	T43656054G	NNT	NM_182977.3(NNT):c.2274del:p.Ile758fs	coding	Pathogenic
5	44388484	C	CT	A44388485T	FGF10	NM_004465.2(FGF10):c.198_199insA:p.Val67fs	coding	Pathogenic
5	44388975	TC	T	C44388976A	FGF10	NM_004465.2(FGF10):c.-294del	noncoding	Benign
5	45267463	T	TA	C45267478A	HCN1	NM_021072.4(HCN1):c.1619-224dup	noncoding	Benign
5	45267463	T	TTA	A45267464T	HCN1	NM_021072.4(HCN1):c.1619-211_1619-210insTA	noncoding	Benign
5	45353344	TCA	T	C45353345G	HCN1	NM_021072.4(HCN1):c.1231-100_1231-99del	noncoding	Benign
5	45396386	C	CT	A45396399T	HCN1	NM_021072.4(HCN1):c.1230+94dup	noncoding	Benign
5	45645619	TA	T	A45645626T	HCN1	NM_021072.4(HCN1):c.426-12del	noncoding	Benign
5	45695870	TCGC	T	G45695890A	HCN1	NM_021072.4(HCN1):c.203GCG[6]:p.Gly74del	coding	Benign/Likely_benign
5	52989814	G	GCACA	G52989837C	ITGA2	NM_002203.4(ITGA2):c.64+283CA[13]	noncoding	Benign
5	52989814	G	GCA	G52989837C	ITGA2	NM_002203.4(ITGA2):c.64+283CA[12]	noncoding	Benign
5	52989833	CACAG	C	G52989841C	ITGA2	NM_002203.4(ITGA2):c.64+309_64+312del	noncoding	Benign
5	53027152	T	TGATA	A53027159T	ITGA2	NM_002203.4(ITGA2):c.185+287_185+290dup	noncoding	Benign
5	53049012	CTT	C	T53049027A	ITGA2	NM_002203.4(ITGA2):c.630+257_630+258del	noncoding	Benign
5	53083020	GT	G	T53083027A	ITGA2	NM_002203.4(ITGA2):c.3145-313del	noncoding	Benign
5	53098854	AT	A	T53098863C	MOCS2	NM_004531.5(MOCS2):c.502-188del	noncoding	Benign
5	53100552	GA	G	A53100561T	MOCS2	NM_004531.5(MOCS2):c.378-19del	noncoding	Benign
5	53100552	G	GA	T53100562A	MOCS2	NM_004531.5(MOCS2):c.378-19dup	noncoding	Benign
5	53100609	GA	G	A53100617T	MOCS2	NM_004531.5(MOCS2):c.378-76del	noncoding	Benign
5	53101525	A	AAAAG	A53101533G	MOCS2	NM_004531.5(MOCS2):c.227-20_227-17dup	noncoding	Benign
5	53102159	G	GA	G53102163A	MOCS2	NM_004531.5(MOCS2):c.163dup:p.Ser55fs	coding	Pathogenic
5	53102181	T	TTA	A53102186T	MOCS2	NM_004531.5(MOCS2):c.140_141dup:p.Asn48Ter	coding	Pathogenic
5	53102210	TCATC	T	C53102214A	MOCS2	NM_004531.5(MOCS2):c.109_112del:p.Asp37fs	coding	Pathogenic
5	53107150	AG	A	G53107152A	MOCS2	NM_004531.5(MOCS2):c.24del:p.Ser9fs	coding	Pathogenic
5	53108447	T	TTAC	T53108449A	MOCS2	NM_004531.5(MOCS2):c.-48+74_-48+75insAGT	noncoding	Benign
5	53108603	CCT	C	C53108604G	MOCS2	NM_176806.4(MOCS2):c.57_58del:p.Gly20fs	coding	Pathogenic
5	53603336	C	CT	A53603352T	NDUFS4	NM_002495.4(NDUFS4):c.99-101dup	noncoding	Benign
5	53603336	C	CTT	A53603352T	NDUFS4	NM_002495.4(NDUFS4):c.99-102_99-101dup	noncoding	Benign
5	53603336	C	CTTT	A53603352T	NDUFS4	NM_002495.4(NDUFS4):c.99-103_99-101dup	noncoding	Benign
5	53658638	G	GT	G53658644T	NDUFS4	NM_002495.4(NDUFS4):c.424+19dup	noncoding	Benign/Likely_benign
5	53658783	C	CA	C53658784A	NDUFS4	NM_002495.4(NDUFS4):c.424+159_424+160insA	noncoding	Benign
5	53658784	C	CAAA	C53658805A	NDUFS4	NM_002495.4(NDUFS4):c.424+178_424+180dup	noncoding	Benign
5	53658784	C	CAA	C53658805A	NDUFS4	NM_002495.4(NDUFS4):c.424+179_424+180dup	noncoding	Benign
5	53658784	C	CA	C53658805A	NDUFS4	NM_002495.4(NDUFS4):c.424+180dup	noncoding	Benign
5	53682943	AG	A	G53682944A	NDUFS4	NM_002495.4(NDUFS4):c.425-174del	noncoding	Benign
5	53682946	GGATT	G	G53682951A	NDUFS4	NM_002495.4(NDUFS4):c.425-167_425-164del	noncoding	Benign
5	54455554	C	CA	C54455556A	HSPB3	Single_allele	noncoding	Benign
5	55221274	C	CT	A55221284T	MCIDAS	NM_001190787.3(MCIDAS):c.607-157dup	noncoding	Benign
5	55226649	AG	A	G55226651T	MCIDAS	NM_001190787.3(MCIDAS):c.235del:p.Leu79fs	coding	Pathogenic
5	55231521	AG	A	G55231522T	CCNO	NM_021147.5(CCNO):c.906del:p.Leu303fs	coding	Pathogenic
5	55232043	T	TA	G55232055A	CCNO	NM_021147.5(CCNO):c.568-194dup	noncoding	Benign
5	55233864	GGGAGCCCGGGTCACTGC	G	G55233891T	CCNO	Single_allele	noncoding	Benign
5	55941557	G	GTAGAA	C55941565G	IL6ST	NM_002184.4(IL6ST):c.2277_2281dup:p.Thr761fs	coding	Pathogenic
5	55941683	A	AT	C55941690T	IL6ST	NM_002184.4(IL6ST):c.2155dup:p.Ile719fs	coding	Pathogenic
5	55947592	TAA	T	A55947616G	IL6ST	NM_002184.4(IL6ST):c.1841-5_1841-4del	noncoding	Benign
5	55947592	TA	T	A55947617G	IL6ST	NM_002184.4(IL6ST):c.1841-4del	noncoding	Benign
5	55964232	AAATACACAGTAG	A	C55964237A	IL6ST	NM_002184.4(IL6ST):c.560_571del:p.Ser187_Tyr190del	coding	Pathogenic
5	56815575	T	TGGC	G56815590C	MAP3K1	NM_005921.2(MAP3K1):c.5CGG[5]:p.Ala5dup	coding	Benign
5	56864714	T	TA	T56864724A	MAP3K1	NM_005921.2(MAP3K1):c.835-11dup	noncoding	Benign
5	58457184	C	CA	G58457193A	PLK2	NM_006622.4(PLK2):c.1004dup:p.Leu335fs	coding	Pathogenic
5	58974630	TA	T	A58974642G	PDE4D	NM_001104631.2(PDE4D):c.*33del	noncoding	Benign
5	58975304	CT	C	T58975305A	PDE4D	NM_001104631.2(PDE4D):c.2014-225del	noncoding	Benign
5	58975886	T	TA	C58975898A	PDE4D	NM_001104631.2(PDE4D):c.1831-58dup	noncoding	Benign
5	58975898	C	CAA	C58975907A	PDE4D	NM_001104631.2(PDE4D):c.1831-67_1831-66dup	noncoding	Benign
5	58989595	CTTGA	C	A58989599T	PDE4D	NM_001104631.2(PDE4D):c.1452+156_1452+159del	noncoding	Benign
5	58989986	T	TAA	T58989998A	PDE4D	NM_001104631.2(PDE4D):c.1288-78_1288-77dup	noncoding	Benign
5	58989986	T	TA	T58989998A	PDE4D	NM_001104631.2(PDE4D):c.1288-78dup	noncoding	Benign
5	58990910	GA	G	A58990923G	PDE4D	NM_001104631.2(PDE4D):c.1189-9del	noncoding	Benign/Likely_benign
5	58991726	AAAC	A	A58991727C	PDE4D	NM_001104631.2(PDE4D):c.1188+103_1188+105del	noncoding	Benign
5	58991727	AAC	A	A58991728C	PDE4D	NM_001104631.2(PDE4D):c.1188+103_1188+104del	noncoding	Benign
5	58999284	TA	T	A58999290G	PDE4D	NM_001104631.2(PDE4D):c.922-5820del	noncoding	Benign
5	58999553	G	GTA	G58999569A	PDE4D	NM_001104631.2(PDE4D):c.922-6102TA[8]	coding	Benign
5	58999553	GTA	G	A58999567G	PDE4D	NM_001104631.2(PDE4D):c.922-6102TA[6]	coding	Benign
5	58999563	A	ATATG	A58999567G	PDE4D	NM_001104631.2(PDE4D):c.922-6099_922-6098insATAC	coding	Benign
5	59215549	ATGCGTG	A	C59215552T	PDE4D	NM_001104631.2(PDE4D):c.647+222_647+227del	noncoding	Benign
5	59215552	C	CGTGT	T59215589G	PDE4D	NM_001104631.2(PDE4D):c.647+189AC[20]	noncoding	Benign
5	59215552	C	CGT	T59215589G	PDE4D	NM_001104631.2(PDE4D):c.647+189AC[19]	noncoding	Benign
5	59215552	CGT	C	G59215587T	PDE4D	NM_001104631.2(PDE4D):c.647+189AC[17]	noncoding	Benign
5	59215763	GC	G	C59215766T	PDE4D	NM_001104631.2(PDE4D):c.647+13del	noncoding	Benign
5	59276122	GAA	G	A59276142G	PDE4D	NM_001104631.2(PDE4D):c.456-60156_456-60155del	noncoding	Benign
5	59276122	GA	G	A59276143G	PDE4D	NM_001104631.2(PDE4D):c.456-60155del	noncoding	Benign
5	59276122	G	GA	G59276144A	PDE4D	NM_001104631.2(PDE4D):c.456-60175dup	noncoding	Benign
5	59586505	C	CAA	T59586522A	PDE4D	NM_001104631.2(PDE4D):c.455+306647_455+306648dup	noncoding	Benign
5	59586505	C	CA	T59586522A	PDE4D	NM_001104631.2(PDE4D):c.455+306647dup	noncoding	Benign
5	59892896	CCA	C	A59892938G	PDE4D	NM_001104631.2(PDE4D):c.455+230TG[20]	noncoding	Benign
5	59892896	CCACA	C	A59892936G	PDE4D	NM_001104631.2(PDE4D):c.455+230TG[19]	noncoding	Benign
5	59892896	CCACACA	C	A59892934G	PDE4D	NM_001104631.2(PDE4D):c.455+230TG[18]	noncoding	Benign
5	59892896	CCACACACA	C	A59892932G	PDE4D	NM_001104631.2(PDE4D):c.455+230TG[17]	noncoding	Benign
5	59892896	C	CCACA	G59892940A	PDE4D	NM_001104631.2(PDE4D):c.455+230TG[23]	noncoding	Benign
5	59892896	C	CCA	G59892940A	PDE4D	NM_001104631.2(PDE4D):c.455+230TG[22]	noncoding	Benign
5	60185936	G	GAA	C60185951A	PDE4D	NM_001165899.2(PDE4D):c.-89-251_-89-250dup	noncoding	Benign
5	60185936	G	GA	C60185951A	PDE4D	NM_001165899.2(PDE4D):c.-89-250dup	noncoding	Benign
5	60898293	TG	T	G60898295A	ERCC8	NM_000082.4(ERCC8):c.825del:p.Asn276fs	coding	Pathogenic
5	60902435	A	AT	A60902440T	ERCC8	NM_000082.4(ERCC8):c.617+6dup	noncoding	Benign
5	60902442	CTTGCTG	C	T60902447C	ERCC8	NM_000082.4(ERCC8):c.611_616del:p.Thr204_Ala205del	coding	Pathogenic
5	60902458	T	TA	T60902460A	ERCC8	NM_000082.4(ERCC8):c.600dup:p.Ile201fs	coding	Pathogenic/Likely_pathogenic
5	60904621	AGTGT	A	G60904632A	ERCC8	NM_000082.4(ERCC8):c.481+157AC[5]	noncoding	Benign
5	60904621	AGTGTGT	A	G60904630A	ERCC8	NM_000082.4(ERCC8):c.481+157AC[4]	noncoding	Benign
5	60904628	GTGTGTGTATA	G	G60904630A	ERCC8	NM_000082.4(ERCC8):c.481+154_481+163del	noncoding	Benign
5	60904628	GTGTGTGTATATATATA	G	G60904630A	ERCC8	NM_000082.4(ERCC8):c.481+148_481+163del	noncoding	Benign
5	60904628	GTGTGTGTATATATATATATATATA	G	G60904630A	ERCC8	NM_000082.4(ERCC8):c.481+140_481+163del	noncoding	Benign
5	60904630	GTGTGTATATATATATATATATATATATATATATATATA	G	G60904632A	ERCC8	NM_000082.4(ERCC8):c.481+124_481+161del	noncoding	Benign
5	60904632	GTGTATATATATATATATATATATATATA	G	G60904634A	ERCC8	NM_000082.4(ERCC8):c.481+132_481+159del	noncoding	Benign
5	60904634	GTATATATATATATATA	G	T60904669A	ERCC8	NM_000082.4(ERCC8):c.481+108TA[17]	noncoding	Benign
5	60904826	CAT	C	A60904829G	ERCC8	NM_000082.4(ERCC8):c.445_446del:p.Met149fs	coding	Pathogenic
5	60904827	A	AT	A60904829T	ERCC8	NM_000082.4(ERCC8):c.445dup:p.Met149fs	coding	Pathogenic
5	60922101	GGAGTT	G	G60922102C	ERCC8	NM_000082.4(ERCC8):c.223_227del:p.Asn75fs	coding	Pathogenic
5	60922163	T	TA	G60922170A	ERCC8	NM_000082.4(ERCC8):c.174-14dup	noncoding	Benign
5	60928874	CA	C	A60928876C	ERCC8	NM_000082.4(ERCC8):c.162del:p.Glu55fs	coding	Pathogenic
5	60928906	CCGCCGTGGAT	C	C60928907T	ERCC8	NM_000082.4(ERCC8):c.121_130del:p.Ile41fs	coding	Pathogenic
5	60928932	GTCTT	G	C60928934A	ERCC8	NM_000082.4(ERCC8):c.101_104del:p.Lys34fs	coding	Pathogenic
5	60928957	ACT	A	C60928960T	ERCC8	NC_000005.9:g.60224785_60224786del	coding	Pathogenic
5	61073180	CT	C	T61073181A	NDUFAF2	NM_174889.5(NDUFAF2):c.184del:p.Tyr62fs	coding	Pathogenic
5	61153076	T	TAA	G61153077A	NDUFAF2	Single_allele	noncoding	Benign
5	61332326	GGGC	G	C61332344G	ZSWIM6	NM_020928.2(ZSWIM6):c.57CGG[5]:p.Gly26del	coding	Benign/Likely_benign
5	61332326	GGGCGGCGGCGGCGGCGGCGGGGGCAGCAGC	G	G61332343C	ZSWIM6	NM_020928.2(ZSWIM6):c.71_100del:p.Gly24_Gly33del	coding	Benign
5	61332326	G	GGGC	G61332347C	ZSWIM6	NM_020928.2(ZSWIM6):c.57CGG[7]:p.Gly26dup	coding	Benign
5	61332327	GGCGGCGGCGGCGGCGGCGGGGGCAGCA	G	G61332346C	ZSWIM6	NM_020928.2(ZSWIM6):c.74_100del:p.Gly25_Gly33del	coding	Benign
5	61332354	A	AGCG	C61332373G	ZSWIM6	NM_020928.2(ZSWIM6):c.83GCG[7]:p.Gly33dup	coding	Benign/Likely_benign
5	61332747	CCGGCCGCAACCTCGG	C	G61332764C	ZSWIM6	NM_020928.2(ZSWIM6):c.477GGCCGCAACCTCGGC[1]:p.162TSAAA[1]	coding	Benign
5	61332791	T	TGCC	G61332824C	ZSWIM6	NM_020928.2(ZSWIM6):c.522CGC[11]:p.Ala184_Gly185insAla	coding	Benign
5	61332999	T	TG	T61333010G	ZSWIM6	NM_020928.2(ZSWIM6):c.676+61dup	noncoding	Benign
5	61494145	CGG	C	G61494146A	ZSWIM6	NM_020928.2(ZSWIM6):c.1183-114_1183-113del	noncoding	Benign
5	61494148	A	ACG	G61494149C	ZSWIM6	NM_020928.2(ZSWIM6):c.1183-112_1183-111insCG	noncoding	Benign
5	61526590	A	AT	A61526602T	ZSWIM6	NM_020928.2(ZSWIM6):c.1837+205dup	noncoding	Benign
5	61539995	TA	T	A61540003T	ZSWIM6	NM_020928.2(ZSWIM6):c.2703+244del	noncoding	Benign
5	61541874	GT	G	T61541879A	ZSWIM6	NM_020928.2(ZSWIM6):c.2704-5del	noncoding	Benign
5	61543227	C	CT	A61543231T	ZSWIM6	NM_020928.2(ZSWIM6):c.2786-225dup	noncoding	Benign
5	62350049	A	AT	C62350056T	KIF2A	NM_001098511.3(KIF2A):c.280-11dup	noncoding	Benign
5	62352567	AT	A	T62352579A	KIF2A	NM_001098511.3(KIF2A):c.335-9del	noncoding	Benign
5	62361707	A	AT	A62361722T	KIF2A	NM_001098511.3(KIF2A):c.1027+192dup	noncoding	Benign
5	62365368	ATTTTTTGTTTG	A	T62365373A	KIF2A	NM_001098511.3(KIF2A):c.1578+20_1578+30del	noncoding	Benign/Likely_benign
5	62366396	A	AT	C62366407T	KIF2A	NM_001098511.3(KIF2A):c.1579-8dup	noncoding	Benign
5	62366396	AT	A	T62366406C	KIF2A	NM_001098511.3(KIF2A):c.1579-8del	noncoding	Benign
5	62373402	GT	G	T62373409C	KIF2A	NM_001098511.3(KIF2A):c.1761-278del	noncoding	Benign
5	64769160	ACATC	A	T64769163G	CWC27	NM_005869.4(CWC27):c.17_20del:p.Ile6fs	coding	Pathogenic
5	64774790	A	AAATTATGAC	T64774791A	CWC27	NM_005869.4(CWC27):c.139+3_139+4insAATTATGAC	noncoding	Benign
5	64781908	A	AT	C64781918T	CWC27	NM_005869.4(CWC27):c.140-4dup	noncoding	Benign
5	64781908	AT	A	T64781917C	CWC27	NM_005869.4(CWC27):c.140-4del	noncoding	Benign
5	64782005	G	GA	G64782007A	CWC27	NM_005869.4(CWC27):c.225dup:p.Glu76fs	coding	Pathogenic
5	64786509	TA	T	A64786510T	CWC27	NM_005869.4(CWC27):c.496-14del	noncoding	Benign
5	64788919	CT	C	T64788930C	CWC27	NM_005869.4(CWC27):c.600-21del	noncoding	Benign
5	64788953	AT	A	T64788957A	CWC27	NM_005869.4(CWC27):c.606del:p.Phe202fs	coding	Pathogenic
5	64789036	CCCTTTGTT	C	C64789038T	CWC27	NM_005869.4(CWC27):c.669+18_669+25del	noncoding	Benign
5	64801289	A	AT	A64801298T	CWC27	NM_005869.4(CWC27):c.750-5dup	noncoding	Benign
5	64801303	GA	G	A64801308G	CWC27	NM_005869.4(CWC27):c.756del:p.Gly253fs	coding	Pathogenic
5	64804212	A	AT	C64804217T	CWC27	NM_005869.4(CWC27):c.781-13dup	noncoding	Benign
5	64885497	AC	A	C64885498A	CWC27	NM_005869.4(CWC27):c.994del:p.Gln332fs	coding	Pathogenic
5	64885498	CA	C	A64885506G	CWC27	NM_005869.4(CWC27):c.1002del:p.Lys334_Val335insTer	coding	Pathogenic
5	64885531	G	GA	G64885538A	CWC27	NM_005869.4(CWC27):c.1033dup:p.Arg345fs	coding	Pathogenic
5	64971723	GGTGCT	G	G64971726T	CWC27	NM_005869.4(CWC27):c.1066_1070del:p.Ala356fs	coding	Pathogenic
5	64977135	AC	A	C64977138T	CWC27	NM_005869.4(CWC27):c.1156del:p.Ala387fs	coding	Pathogenic
5	66014649	A	AT	G66014660T	ERBIN	NM_001253697.2(ERBIN):c.477-10dup	noncoding	Benign
5	66014649	AT	A	T66014659G	ERBIN	NM_001253697.2(ERBIN):c.477-10del	noncoding	Benign
5	66024290	C	CT	A66024298T	ERBIN	NM_001253697.2(ERBIN):c.673-9dup	noncoding	Benign
5	66028259	A	AT	C66028267T	ERBIN	NM_001253697.2(ERBIN):c.1137-8dup	noncoding	Benign
5	66076856	A	AT	G66076865T	ERBIN	NM_001253697.2(ERBIN):c.4057-11dup	noncoding	Benign
5	66076965	C	CT	C66076977T	ERBIN	NM_001253697.2(ERBIN):c.4131+27dup	noncoding	Benign
5	66076965	C	CTT	C66076977T	ERBIN	NM_001253697.2(ERBIN):c.4131+26_4131+27dup	noncoding	Benign
5	66076965	CT	C	T66076976C	ERBIN	NM_001253697.2(ERBIN):c.4131+27del	noncoding	Benign
5	68279495	A	AT	G68279511T	PIK3R1	NM_181523.3(PIK3R1):c.503-92dup	noncoding	Benign
5	68279495	AT	A	T68279510G	PIK3R1	NM_181523.3(PIK3R1):c.503-92del	noncoding	Benign
5	68279495	ATT	A	T68279509G	PIK3R1	NM_181523.3(PIK3R1):c.503-93_503-92del	noncoding	Benign
5	68288512	A	ACGAGC	A68288529G	PIK3R1	NM_181523.3(PIK3R1):c.917-3746CGAGC[4]	coding	Benign
5	68293747	G	GA	T68293754A	PIK3R1	NM_181523.3(PIK3R1):c.1344dup:p.Leu449fs	coding	Pathogenic
5	68293869	G	GAGT	T68293873A	PIK3R1	NM_181523.3(PIK3R1):c.1425+36_1425+38dup	noncoding	Benign
5	68294969	AAAAAT	A	A68294986T	PIK3R1	NM_181523.3(PIK3R1):c.1569-178AAAAT[3]	noncoding	Benign
5	68295004	C	CAA	T68295020A	PIK3R1	NM_181523.3(PIK3R1):c.1569-130_1569-129dup	noncoding	Benign
5	68295004	C	CA	T68295020A	PIK3R1	NM_181523.3(PIK3R1):c.1569-129dup	noncoding	Benign
5	68295311	GACCAAT	G	C68295314T	PIK3R1	NM_181523.3(PIK3R1):c.1735_1740del:p.Gln579_Tyr580del	coding	Pathogenic/Likely_pathogenic
5	68295410	TGTTTTTCAGGTG	T	T68295414G	PIK3R1	NM_181523.3(PIK3R1):c.1746-6_1751del	noncoding	Pathogenic
5	68295414	TTTCAGGTG	T	T68295415G	PIK3R1	NM_181523.3(PIK3R1):c.1746-5_1748del	noncoding	Pathogenic
5	68295418	AGGT	A	G68295422T	PIK3R1	NM_181523.3(PIK3R1):c.1748_1750delGGT	noncoding	Pathogenic/Likely_pathogenic
5	68296619	C	CT	C68296627T	PIK3R1	NM_181523.3(PIK3R1):c.1985+285dup	noncoding	Benign
5	69419989	C	CT	G69419994T	MARVELD2	NM_001038603.3(MARVELD2):c.608dup:p.Leu203fs	coding	Pathogenic
5	69432675	CGTGA	C	A69432679T	MARVELD2	NM_001038603.3(MARVELD2):c.1331+4_1331+7del	coding	Pathogenic
5	69509141	CAAACCGAATCATTATGCACCAAGCAATGACATATATGGTGGAGAGATGCATGTTCGACCAATGCTCTCTCAGCCAGCCTACTCTTTTTACCCAGAAGATGAAATTCTTCACTTCTACAAATGGACCTCTCCTCCAGGAGTGATTCGGATCCTGTCTATGCTCATTATTGTGATGTGCATTGCCATCTTTGCCTGTGTGGCCTCCACGCTTGCCTGGGACAGAGGCTATGGAACTTCCCTTTTAGGAGGTAGTGTAGGCTACCCTTATGGAGGAAGTGGCTTTGGTAGCTACGGAAGTGGCTATGGCTATGGCTATGGTTATGGCTATGGCTACGGAGGCTATACAGACCCAAGAGCAGCAAAGGGCTTCATGTTGGCCATGGCTGCCTTTTGTTTCATTGCCGCGTTGGTGATCTTTGTTACCAGTGTTATAAGATCTGAAATGTCCAGAACAAGAAGATACTACTTAAGTGTGATAATAGTGAGTGCTATCCTGGGCATCATGGTGTTTATTGCCACAATTGTCTATATAATGGGAGTGAACCCAACTGCTCAGTCTTCTGGATCTCTATATGGTTCACAAATATATGCCCTCTGCAACCAATTTTATACACCTGCAGCTACTGGACTCTACGTGGATCAGTATTTGTATCACTACTGTGTTGTGGATCCCCAGGAGGTATGAGTGGTGTTTTGGGTTTTTTCTCCATCTCCTTAGCAGAGGCCTTCAACTTGAGATATGTGATAGAATCACTCTGGAAACTCTTAAAAAATATTGATGACAAGGCTCCACTTCTAATTAAATCTGGGGGAGGGGCTGAGTCTCATTAAGATATGATTAACATACCATGTAATTTGATTACTTAAATAACAGTTCAGTGGTTTTTAATATATTCACAGAATTGTGCCACCATCACCACAATCAATTTTAGAACATTTTCACTATCCTAAAAAGAAACTTGTACCCGTTAGCGGTCACTCCTCATTTCCCTAACCATTCTTAGCCCTAGGCAACCACTAATCCTACATCTATAAATTTGTCTATTCTCTAGGTATTTCATATAAATGGAATCACACAATGTGGTCTTTGTGATGGGCTTCTTTTACGTAGCATAATGTTTTTAAGGTTTACCCATGTCATAGCTTGTGCCATTCTCTCATTCCTTTTTATTGCTAATATTCCAGTGTGTGGATAAACCACATTTTATTTATCAGTTGATAGACATTTGTGTCTACATTGGCTATTAAGAATCATGCTAGACTGGGCACGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATTGTGACCATCCTCGCTAATAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTCAGGCAGAAGAAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGAGCGACAGAGCAAGACTCCATCTCAAAAAAAAAGAATCATGCTATAGACATTCTTGTATACGTTTTTGTGTGAACCTATGTTTTAATGATTTCTTGAGTTGGGTTATACCTAGGGGTGGAATTGCTGGGTCATATGGTGACTCTTTAATCTTTTGGGGAGCTACCAGAGTTTTTCCAAAGAGTTTGCATCATTTTACATTCACATCAGAAATGTATGAAAGTTCCAATTTCTCCACATCCTCACCAACACTTGTTATTGTCTGATTCTAGCCATGCTGATGGGTGAGAAGTGAAGTGGTGCTTTATTGTGATTTTGATTCGTATTTTCTTTATAGCTAATGTTATTAGCTATATAGTCATGTACTTATTGGCCATTTCTCTCTTATCTTTGGAGAAATGGCTGTTTAGACTTGTCCATTTTTTTTTTCTTTTTGAGACGGAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTTGCTCACTGTGAGCTACGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCACCGGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCACGATGGTCTCTATCTTCTGACCTCGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCTAGACTTGCCCATGTTTTAATTGGGCTATTTTTGTTGTTGTTTTGTTTTTGAGACAGAGTCTCACTGTCACCCAGGCTGGGGTGCAGTGGTGCAGTCACAGCTCACTGCATCCTTGACCTCCTGGGCTCAAGTGACCCTCCTACCTCAGTCTCCTGAGTAGCTAGGACCACAGGGGCATGCCACCACACCCGGATAATTTTTTAAAAAATTTTTTGTAGAGACAGGGTCTCACTTTGTTGCCCGGTCTGGGCTGGAACTCCTGGGCTCAAGTGATCCTGCCTTGGCCTTCCAAACCGCTGGGATTATAGGCATCTTTTCACTTTCTTGATGGTGTCCTTTGCATAAAAGCTTTTAGTTTTGGGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATAGAAAAATTACCTGGACACGGTGGCGTGCCTGTAATCCCAGCTACTCAGTAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAAATTGTGCCACTGCACTCCAGCCTAGACAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTTTTAGTTTTGATGATGTCCAGTTTATTTAATTTTTCTTCTGTTGCTTGTATTTTTGGTGTCATATCTAATGCTTTGCCTAATTCAGGGTCACAAGGATTTACTCCTATGTTTTCTATTATTTAATTTTTCTATAGTTTCATAATTTTAGCTTTTACAGTTAGGTCTGTGATTCATGTTGTGTTAATTTTGGGCATGATGGAAGCAAGGGTTCTGAAAGCTTTCGCATGTTTATATGCAGTTGTCTCAGTGTTACTTGTTGAAAGGACTGTTCCTCCACTAAGTTTTCTTCATGCCTTTGTCAAAAATGAATTGATCATAAATGTGGACATTTATTTCTGGGCTCTCAGTTCAGCTGCATTAATCATATGTCCTAATGCCAGTACCATACTGTCTTGATTACTGTAACTTTATAGTAAGTTTTGAAATTGTGGAGTGGGAGTTCTCCAACTTTGTTCTTCAAGACTGTTTTGGCTAGATTCTGGATTCCTTGCATTTCCATATGGATTTTAAGATCAGCATGTCAATTTTGGAAAAAAATGCCAGCTAGGATTTTGAAGGGTTATATTGAATCTGTAGGTCAATTTTGGATGTATTGTCATCTTTACAATTACAAGTCTTCTGATTCATGAACGTAAGATTCTTTTGATTTATGTAGGTCTTGTTAAACTTCTTTTAATAGTGTTTTATAGTTTTCAGAGTGTAAGTTAGTATGTTTAAAAGCTAAGCAAGTGATTCAAATGTGCAGGTTGGAGTTGAGAAACCTACTTTAGTAACCATGAGTCATACTGATTATATTAATATCTGAAATGTTTCTGAGTTACTGATCTTTTTTCCCTTGTTTTTCCTTTTTTCTTACACTAACTCAGGAGTTCCCATTCCTGAATGAGTCACTCCTTTGGAGTTAGACCTCTAGTATCTGTCTACCATTATTTAGAAGACTGAAGGTTTTCCCTGCAGACGTAGGTTTTCACAGTGCTCGTTGTTGCCATTTAGACATGTCCATGGTAGATAGGGACTGAGGGTTGGTACTCCTATCCTACCACACCCCTATCCCTCTTAGTTCTCTTACTACTTACTCTTTGAAAAATGATGTCACTGTCAAGACAGCTGGAAGGAGAGCCTCTTGTTCCCATTAGCAGACATCCAGGGTAGAGGCCTGATATTTCCCTCAACTTCAAGTGCCTCCCAGGCCAATATACCATTTAATATCCTATCACCACTGGGAGAACTGTTAAGAGTAGGAAGTTTCTTTGTTACAGGGCCCTTTCTAGTAGTATGCAAGACTCCTGAAACAGAGAAACCTGCCAGACCAAATCAATCATTAGTCAATTTGCTATTTATAGCTTGATTAGATCCATGTCTTCATCATTTTTGGTAAGATAGAGATCTATGGACAGAAATTTACATTCAGTGTAAAAAGGCTTGCCAAGCATATGTTTTGAACAAGATTACAAGCATGATTGGCTATTTCAAAGCTGTGAATACTTTTGAGAGTAGCATTTTTCAGGCCCTTTAGAAGTATACCAATGATTGAGTTACTTTACTGGCCATTCTCGTAGGTGCACAAAGCTTGGCCCGTAGGTGTACAAGCTTTGGAACTAGTTTTTTACAGCTCTGAAATGAGGGTGATGATTGATAGTTCCTAACATTAGGCATTTTCTGAGGATTGAGTCAAGCAGTATGTACGTGTGTGTACATTTGCTGGCCTTAGCCCAGTTAGTGTGGGTTAGGTTTTATGATATGTCTGAAATGTAACTATTTGCTTCAGTTTTCTATCAATTAAACCACATGGATTTAGTAGGGCCTTAGGGTAGATAAGGGTTTTAATAATATGTAGAGGGTGAATTGTGATTAAGCAATTAAAATCTAATTATGCCAATATTTTCCACTCCTTTTTAGGCCATTGCCATTGTACTGGGGTTCATGATTATTGTGGCTTTTGCTTTAATAATTTTCTTTGCTGTGAAAACTCGAAGAAAGATGGACAGGTATGACAAGTCCAATATTTTGTGGGACAAGGAACACATTTATGATGAGCAGCCCCCCAATGTCGAGGAGTGG	C	A69509142G	OCLN	NM_001205254.2(OCLN):c.52_891del:p.Lys18_Trp297del	coding	Pathogenic
5	70049454	C	CA	G70049465A	SMN2	Single_allele	noncoding	Benign
5	70924872	C	CA	G70924883A	SMN1	Single_allele	noncoding	Benign
5	70942372	CA	C	A70942375T	SMN1	NM_000344.4(SMN1):c.291del:p.Lys97fs	coding	Pathogenic
5	70942520	TGTGAA	T	G70942523A	SMN1	NM_000344.4(SMN1):c.439_443del:p.Glu147fs	coding	Pathogenic
5	70942791	TC	T	C70942792A	SMN1	NM_000344.4(SMN1):c.549del:p.Lys184fs	coding	Pathogenic
5	70946065	GATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATGGTAAGTAATCACTCAGCATCTTTTCCTGACAATTTTTTTGTAGTTATGTGACTTTGTTTTGTAAATTTATAAAATACTACTTGCTTCTCTCTTTATATTACTAAAAAATAAAAATAAAAAAATACAACTGTCTGAGGCTTAAATTACTCTTGCATTGTCCCTAAGTATAATTTTAGTTAATTTTAAAAAGCTTTCATGCTATTGTTAGATTATTTTGATTATACACTTTTGAATTGAAATTATACTTTTTCTAAATAATGTTTTAATCTCTGATTTGAAATTGATTGTAGGGAATGGAAAAGATGGGATAATTTTTCATAAATGAAAAATGAAATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACAGCAAGCTCTGCCTTCTGGATTCACGCCATTCTCCTGCCTCAGCCTCAGAGGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGTCTAATTTTTTGTATTTTTTTGTAAAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCCCGTGATCCACCCGCCTCGGCCTTCCAAGAGAAATGAAATTTTTTTAATGCACAAAGATCTGGGGTAATGTGTACCACATTGAACCTTGGGGAGTATGGCTTCAAACTTGTCACTTTATACGTTAGTCTCCTACGGACATGTTCTATTGTATTTTAGTCAGAACATTTAAAATTATTTTATTTTATTTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCTAAAATTATTTTTAAAAGTAAGCTCTTGTGCCCTGCTAAAATTATGATGTGATATTGTAGGCACTTGTATTTTTAGTAAATTAATATAGAAGAAACAACTGACTTAAAGGTGTATGTTTTTAAATGTATCATCTGTGTGTGCCCCCATTAATATTCTTATTTAAAAGTTAAGGCCAGACATGGTGGCTTACAACTGTAATCCCAACAGTTTGTGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCTTGTCTCTACTAAAAATACCAAAAAAAATTTAGCCAGGCATGGTGGCACATGCCTGTAATCCGAGCTACTTGGGAGGCTGTGGCAGGAAAATTGCTTTAATCTGGGAGGCAGAGGTTGCAGTGAGTTGAGATTGTGCCACTGCACTCCACCCTTGGTGACAGAGTGAGATTCCATCTCAAAAAAAGAAAAAGGCCTGGCACGGTGGCTCACACCTATAATCCCAGTACTTTGGGAGGTAGAGGCAGGTGGATCACTTGAGGTTAGGAGTTCAGGACCAGCCTGGCCAACATGGTGACTACTCCATTTCTACTAAATACACAAAACTTAGCCCAGTGGCGGGCAGTTGTAATCCCAGCTACTTGAGAGGTTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCGCTGCACTCTAGCCTGGCCAACAGAGTGAGAATTTGCGGAGGGAAAAAAAAGTCACGCTTCAGTTGTTGTAGTATAACCTTGGTATATTGTATGTATCATGAATTCCTCATTTTAATGACCAAAAAGTAATAAATCAACAGCTTGTAATTTGTTTTGAGATCAGTTATCTGACTGTAACACTGTAGGCTTTTGTGTTTTTTAAATTATGAAATATTTGAAAAAAATACATAATGTATATATAAAGTATTGGTATAATTTATGTTCTAAATAACTTTCTTGAGAAATAATTCACATGGTGTGCAGTTTACCTTTGAAAGTATACAAGTTGGCTGGGCACAATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAAATTAGCCGGGCATGTTGGCGGGCACCTTTTGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAGTGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAATAAAAAAGAAAGTATACAAGTCAGTGGTTTTGGTTTTCAGTTATGCAACCATCACTACAATTTAAGAACATTTTCATCACCCCAAAAAGAAACCCTGTTACCTTCATTTTCCCCAGCCCTAGGCAGTCAGTACACTTTCTGTCTCTATGAATTTGTCTATTTTAGATATTATATATAAACGGAATTATACGATATGTGGTCTTTTGTGTCTGGCTTCTTTCACTTAGCATGCTATTTTCAAGATTCATCCATGCTGTAGAATGCACCAGTACTGCATTCCTTCTTATTGCTGAATATTCTGTTGTTTGGTTATATCACATTTTATCCATTCATCAGTTCATGGACATTTAGGTTGTTTTTATTTTTGGGCTATAATGAATAATGTTGCTATGAACATTCGTTTGTGTTCTTTTTGTTTTTTTGGTTTTTTGGGTTTTTTTTGTTTTGTTTTTGTTTTTGAGACAGTCTTGCTCTGTCTCCTAAGCTGGAGTGCAGTGGCATGATCTTGGCTTACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCCGACAAGTAGCTGGGACTACAGGCGTGTGCCACCATGCACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTTAAGTGTTTTTAATACGTCATTGCCTTAAGCTAACAATTCTTAACCTTTGTTCTACTGAAGCCACGTGGTTGAGATAGGCTCTGAGTCTAGCTTTTAACCTCTATCTTTTTGTCTTAGAAATCTAAGCAGAATGCAAATGACTAAGAATAATGTTGTTGAAATAACATAAAATAGGTTATAACTTTGATACTCATTAGTAACAAATCTTTCAATACATCTTACGGTCTGTTAGGTGTAGATTAGTAATGAAGTGGGAAGCCACTGCAAGCTAGTATACATGTAGGGAAAGATAGAAAGCATTGAAGCCAGAAGAGAGACAGAGGACATTTGGGCTAGATCTGACAAGAAAAACAAATGTTTTAGTATTAATTTTTGACTTTAAATTTTTTTTTTATTTAGTGAATACTGGTGTTTAATGGTCTCATTTTAATAAGTATGACACAGGTAGTTTAAGGTCATATATTTTATTTGATGAAAATAAGGTATAGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTAGAGACTAGCCTCAACATGGAGAAACCCCGTCTCTACTAAAAAAAATACAAAATTAGGCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCACCTCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCAAAAAAAAAAAAATAAGGTATAAGCGGGCTCAGGAACATCATTGGACATACTGAAAGAAGAAAAATCAGCTGGGCGCAGTGGCTCACGCCGGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGAATCACCTGAAGTCGGGAGTTCCAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAACTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTTGCTTGAACTGAGAAGGCGGAGGTTGCGGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAGGAAGAAAAATATTTTTTTAAATTAATTAGTTTATTTATTTTTTAAGATGGAGTTTTGCCCTGTCGCCCAGGCTGGGGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGTGATTACAGCCATATGCCACCACGCCCAGCCAGTTTTGTGTTTTGTTTTGTTTTTTGTTTTTTTTTTTTGAGAGGGTGTCTTGCTCTGTCCCCCAAGCTGGAGTGCAGCGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTTTGATCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCGGCCTAGTCTTGTATTTTTAGTAGAGTCGGGGTTTCTCCATGTTGGTCAGGCTGTTCTCCAAATCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCAAAAGTGCAAGGCATTACAGGCATGAGCCACTGTGACCGGCAATGTTTTTAAATTTTTTAAATTTAAATTTTATTTTTTAGAGACCAGGTCTCACTCTATTGCTCAGGCTGGAGTGCAAGGGCACATTCACAGCTCACTGCAGCCTTGACCTCCAGGGCTCAAGCAGTCCTCTCACCTCAGTTTCCCGAGTAGCTGGGACTACAGTGATAATGCCACTGCACCTGGCTAATTTTTATTTTTATTTATTTATTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAAATCTCAGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAGAGGTCCCCACCACCATGCCTGGCTAATTTTTTGTACTTTCAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGAGCTCAGGTGATCCAACTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTAGCCTGAGCCACCACGCCGGCCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCATTATGTTGCCCAGGGTGGTGTCAAGCTCCAGGTCTCAAGTGATCCCCCTACCTCCGCCTCCCAAAGTTGTGGGATTGTAGGCATGAGCCACTGCAAGAAAACCTTAACTGCAGCCTAATAATTGTTTTCTTTGGGATAACTTTTAAAGTACATTAAAAGACTATCAACTTAATTTCTGATCATATTTTGTTGAATAAAATAAGTAAAATGTCTTGTGAAACAAAATGCTTTTTAACATCCATATAAAGCTATCTATATATAGCTATCTATGTCTATATAGCTATTTTTTTTAACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAA	G	A70946066G	SMN1	NM_000344.4(SMN1):c.724_885del:p.Ile242_Ter295del	noncoding	Pathogenic
5	70952281	C	CA	C70952282A	SMN1	NM_000344.4(SMN1):c.*4-158_*4-157insA	noncoding	Benign
5	70952644	CTA	C	A70952646T	SMN1	NM_000344.4(SMN1):c.*211_*212del	noncoding	Benign
5	71463829	TAA	T	A71463845G	BDP1	NM_018429.3(BDP1):c.600-213_600-212del	noncoding	Benign
5	71463829	TA	T	A71463846G	BDP1	NM_018429.3(BDP1):c.600-212del	noncoding	Benign
5	71486385	TAAAC	T	A71486390C	BDP1	NM_018429.3(BDP1):c.1070-94_1070-91del	noncoding	Benign
5	71490899	G	GAC	G71490901C	BDP1	NM_018429.3(BDP1):c.1493-84_1493-83insCA	noncoding	Benign
5	71495239	C	CT	A71495248T	BDP1	NM_018429.3(BDP1):c.1641-3dup	noncoding	Benign
5	71501673	TAAA	T	A71501691G	BDP1	NM_018429.3(BDP1):c.2048+38_2048+40del	noncoding	Benign
5	71501673	TAA	T	A71501692G	BDP1	NM_018429.3(BDP1):c.2048+39_2048+40del	noncoding	Benign
5	71501673	TA	T	A71501693G	BDP1	NM_018429.3(BDP1):c.2048+40del	noncoding	Benign
5	71501673	T	TA	G71501694A	BDP1	NM_018429.3(BDP1):c.2048+40dup	noncoding	Benign
5	71509445	GC	G	C71509450T	BDP1	NM_018429.3(BDP1):c.2373-15del	noncoding	Benign
5	71509450	CT	C	T71509460A	BDP1	NM_018429.3(BDP1):c.2373-5del	noncoding	Benign
5	71511189	CT	C	T71511195C	BDP1	NM_018429.3(BDP1):c.4059+44del	noncoding	Benign
5	71513063	CA	C	A71513088T	BDP1	NM_018429.3(BDP1):c.4248-97del	noncoding	Benign
5	71513063	C	CA	T71513089A	BDP1	NM_018429.3(BDP1):c.4248-97dup	noncoding	Benign
5	71513442	GT	G	T71513457A	BDP1	NM_018429.3(BDP1):c.4470+50del	noncoding	Benign
5	71522502	C	CA	T71522519A	BDP1	NM_018429.3(BDP1):c.5193+28dup	noncoding	Benign
5	71524540	C	CAAT	G71524541A	BDP1	NM_018429.3(BDP1):c.5772+217_5772+218insAAT	noncoding	Benign
5	71524592	A	AT	A71524594T	BDP1	NM_018429.3(BDP1):c.5772+270dup	noncoding	Benign
5	71532590	TTTTG	T	T71532600G	BDP1	NM_018429.3(BDP1):c.5892+164TTTG[2]	noncoding	Benign
5	71539881	TCATGGAATAGTTGTATG	T	A71539904T	BDP1	NM_018429.3(BDP1):c.6022+255_6022+271del	noncoding	Benign
5	71541131	G	GCTGT	T71541138G	BDP1	NM_018429.3(BDP1):c.6023-320_6023-317dup	noncoding	Benign
5	71541433	G	GT	C71541448T	BDP1	NM_018429.3(BDP1):c.6023-7dup	noncoding	Benign
5	71541433	GT	G	T71541447C	BDP1	NM_018429.3(BDP1):c.6023-7del	noncoding	Benign
5	71544904	A	AAAAG	G71544907A	BDP1	NM_018429.3(BDP1):c.6564-133_6564-132insAGAA	noncoding	Benign
5	71549236	T	TG	C71549237G	BDP1	NM_018429.3(BDP1):c.6809-184_6809-183insG	noncoding	Benign
5	71553052	TA	T	A71553062G	BDP1	NM_018429.3(BDP1):c.6996-54del	noncoding	Benign
5	71587500	GGA	G	G71587501C	MCCC2	NM_022132.5(MCCC2):c.76_77del:p.Asp26fs	coding	Pathogenic
5	71596079	A	AT	A71596089T	MCCC2	NM_022132.5(MCCC2):c.197-192dup	noncoding	Benign
5	71596200	GATTAAGT	G	A71596205T	MCCC2	NM_022132.5(MCCC2):c.197-75_197-69del	noncoding	Benign
5	71599718	TG	T	G71599719C	MCCC2	NM_022132.5(MCCC2):c.342del:p.Pro115fs	coding	Pathogenic
5	71626700	GA	G	A71626704C	MCCC2	NM_022132.5(MCCC2):c.689del:p.Asn230fs	coding	Pathogenic
5	71634960	AC	A	C71634962A	MCCC2	NM_022132.5(MCCC2):c.823del:p.His275fs	coding	Pathogenic
5	71635213	TGCTAACCTTAAGAGGA	T	A71635217T	MCCC2	NM_022132.5(MCCC2):c.970_985del:p.Asn324fs	coding	Pathogenic
5	71643890	AAAA	TTTT	A71643890T	MCCC2	NM_022132.5(MCCC2):c.1144_1147inv:p.Lys382_Lys383delinsPheTer	coding	Pathogenic
5	71644032	CAT	C	A71644033G	MCCC2	NM_022132.5(MCCC2):c.1149+138_1149+139del	noncoding	Benign
5	71644032	C	CGTGT	A71644033G	MCCC2	NM_022132.5(MCCC2):c.1149+137_1149+138insGTGT	noncoding	Benign
5	71644033	A	ATG	C71644072T	MCCC2	NM_022132.5(MCCC2):c.1149+139TG[20]	noncoding	Benign
5	71644033	A	ATGTG	C71644072T	MCCC2	NM_022132.5(MCCC2):c.1149+139TG[21]	noncoding	Benign
5	71644033	A	ATGTGTG	C71644072T	MCCC2	NM_022132.5(MCCC2):c.1149+139TG[22]	noncoding	Benign
5	71644033	A	ATGTGTGTGTG	C71644072T	MCCC2	NM_022132.5(MCCC2):c.1149+139TG[24]	noncoding	Benign
5	71644062	TGTGTGTGTGCGC	T	T71644064C	MCCC2	NM_022132.5(MCCC2):c.1149+169_1149+180del	noncoding	Benign
5	71644070	TGCGC	T	C71644074T	MCCC2	NM_022132.5(MCCC2):c.1149+179_1149+182del	noncoding	Benign
5	71644070	TGC	T	C71644076T	MCCC2	NM_022132.5(MCCC2):c.1149+176GC[2]	noncoding	Benign
5	71649186	AAGATAACCCTC	A	G71649188T	MCCC2	NM_022132.5(MCCC2):c.1308_1318del:p.Lys436fs	coding	Pathogenic
5	71652710	T	TAAGAAGTTTGAAGAGGGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A71652727G	MCCC2	NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG:p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu	coding	Pathogenic
5	71720635	CA	C	A71720636T	CARTPT	NM_004291.4(CARTPT):c.*21del	noncoding	Benign
5	73781037	TCTC	T	C73781041A	ARHGEF28	NM_001177693.2(ARHGEF28):c.910+296_910+298del	noncoding	Benign
5	73795612	CT	C	T73795616C	ARHGEF28	NM_001177693.2(ARHGEF28):c.1024+225del	noncoding	Benign
5	73813910	TA	T	A73813927G	ARHGEF28	NM_001177693.2(ARHGEF28):c.1025-18411del	noncoding	Benign
5	73857564	TACAC	T	C73857584T	ARHGEF28	NM_001177693.2(ARHGEF28):c.1791-91AC[9]	noncoding	Benign
5	73869905	C	CA	C73869915A	ARHGEF28	NM_001177693.2(ARHGEF28):c.2426-155dup	noncoding	Benign
5	74689052	C	CA	G74689053A	HEXB	NM_000521.4(HEXB):c.300-276_300-275insA	noncoding	Benign
5	74705091	CA	C	A74705112G	HEXB	NM_000521.4(HEXB):c.670-107del	noncoding	Benign
5	74705091	C	CA	G74705113A	HEXB	NM_000521.4(HEXB):c.670-107dup	noncoding	Benign
5	74705277	CT	C	T74705280C	HEXB	NM_000521.4(HEXB):c.731del:p.Phe244fs	coding	Pathogenic
5	74713513	ATTCT	A	C74713516G	HEXB	NM_000521.4(HEXB):c.782_785del:p.Ser261fs	coding	Pathogenic
5	74713609	CT	C	T74713610G	HEXB	NM_000521.4(HEXB):c.876del:p.His294fs	coding	Pathogenic
5	74715523	CCT	C	C74715524G	HEXB	NM_000521.4(HEXB):c.916_917del:p.Leu306fs	coding	Pathogenic
5	74715600	G	GAGTATGTA	C74715601A	HEXB	NM_000521.4(HEXB):c.992_993insAGTATGTA:p.Ser331fs	coding	Pathogenic
5	74715623	GAA	G	A74715625T	HEXB	NM_000521.4(HEXB):c.1017_1018del:p.Glu339fs	coding	Pathogenic
5	74715631	TG	T	G74715632A	HEXB	NM_000521.4(HEXB):c.1024del:p.Glu342fs	coding	Pathogenic
5	74715716	T	TA	G74715731A	HEXB	NM_000521.4(HEXB):c.1082+40dup	noncoding	Benign
5	74716646	A	AGAAACTAGAATCTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCG	A74716664T	HEXB	NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT:p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer	coding	Pathogenic
5	74716656	ATCTT	A	T74716660A	HEXB	NM_000521.4(HEXB):c.1156_1159del:p.Phe386fs	coding	Pathogenic
5	74716668	T	TC	A74716670C	HEXB	NM_000521.4(HEXB):c.1165dup:p.Gln389fs	coding	Pathogenic
5	74718817	T	TG	A74718819G	HEXB	NM_000521.4(HEXB):c.1264dup:p.Glu422fs	coding	Pathogenic
5	74718830	GAC	G	C74718832G	HEXB	NM_000521.4(HEXB):c.1278_1279del:p.Asp426fs	coding	Pathogenic
5	74718852	TCAGTA	T	C74718853G	HEXB	NM_000521.4(HEXB):c.1299_1303del:p.Arg435fs	coding	Pathogenic
5	74718856	TAG	T	A74718859T	HEXB	NM_000521.4(HEXB):c.1305_1306del:p.Arg435fs	coding	Pathogenic/Likely_pathogenic
5	74718857	A	AT	G74718858T	HEXB	NM_000521.4(HEXB):c.1303_1304insT:p.Arg435fs	coding	Pathogenic
5	74718897	CT	C	T74718899G	HEXB	NM_000521.4(HEXB):c.1345del:p.Trp449fs	coding	Pathogenic/Likely_pathogenic
5	74718939	AATACT	A	C74718943A	HEXB	NM_000521.4(HEXB):c.1389_1393del:p.Tyr463_Lys465delinsTer	coding	Pathogenic
5	74718957	CT	C	T74718958C	HEXB	NM_000521.4(HEXB):c.1404del:p.Asp470fs	coding	Pathogenic
5	74720691	C	CAGAG	T74720697G	HEXB	NM_000521.4(HEXB):c.1559_1562dup:p.Asp521fs	coding	Pathogenic/Likely_pathogenic
5	74720708	C	CCTATGACAGACTGACA	A74720725C	HEXB	NM_000521.4(HEXB):c.1575_1590dup:p.Arg531delinsLeuTer	coding	Pathogenic/Likely_pathogenic
5	74720716	AGACT	A	T74720720A	HEXB	NM_000521.4(HEXB):c.1586_1589del:p.Leu529fs	coding	Pathogenic
5	74721041	AATATCAATCTAAAATATCTTTATGAATG	A	A74721055T	HEXB	NM_000521.4(HEXB):c.1614-63_1614-36del	noncoding	Benign
5	74721255	CTG	C	G74721257T	HEXB	NM_000521.4(HEXB):c.*82_*83del	noncoding	Benign/Likely_benign
5	74722252	A	AAACTT	A74722261T	GFM2	NM_032380.5(GFM2):c.2211+122_2211+126dup	noncoding	Benign
5	74726280	CAGAG	C	A74726281T	GFM2	NM_032380.5(GFM2):c.1727-158_1727-155del	noncoding	Benign
5	74732927	GACACACACAC	G	A74732970T	GFM2	NM_032380.5(GFM2):c.1587+43GT[21]	noncoding	Benign
5	74732927	GACACACAC	G	A74732972T	GFM2	NM_032380.5(GFM2):c.1587+43GT[22]	noncoding	Benign
5	74732927	GACACAC	G	A74732974T	GFM2	NM_032380.5(GFM2):c.1587+43GT[23]	noncoding	Benign
5	74732927	GACAC	G	A74732976T	GFM2	NM_032380.5(GFM2):c.1587+43GT[24]	noncoding	Benign
5	74732927	GAC	G	A74732978T	GFM2	NM_032380.5(GFM2):c.1587+43GT[25]	noncoding	Benign
5	74732927	G	GAC	T74732980A	GFM2	NM_032380.5(GFM2):c.1587+43GT[27]	noncoding	Benign
5	74745961	A	AT	C74745963T	GFM2	NM_032380.5(GFM2):c.670-105dup	noncoding	Benign
5	74758967	AG	A	G74758969T	GFM2	NM_032380.5(GFM2):c.207-22del	noncoding	Benign
5	74763990	GT	G	T74763991C	GFM2	NM_032380.5(GFM2):c.-24-225del	noncoding	Benign
5	75374198	GA	G	A75374216G	CERT1	NM_005713.3(CERT1):c.*10-8del	noncoding	Benign/Likely_benign
5	75403026	CTCT	C	T75403032A	CERT1	NM_001379029.1(CERT1):c.957AGA[1]:p.Glu321del	coding	Pathogenic
5	77211018	CG	C	G77211019T	PDE8B	NM_003719.5(PDE8B):c.94del:p.Val32fs	coding	Pathogenic
5	77211019	GT	C	G77211019C	PDE8B	NM_003719.5(PDE8B):c.94_95delinsC:p.Val32fs	coding	Pathogenic
5	78039050	AT	A	T78039052A	AP3B1	NM_003664.5(AP3B1):c.2801del:p.Asn934fs	coding	Pathogenic
5	78039094	CT	C	T78039095A	AP3B1	NM_003664.5(AP3B1):c.2757del:p.Ile919fs	coding	Pathogenic
5	78039113	CT	C	T78039116C	AP3B1	NM_003664.5(AP3B1):c.2738del:p.Lys913fs	coding	Pathogenic
5	78039139	TTATTTGTATAGAGACCATC	T	A78039141T	AP3B1	NM_003664.5(AP3B1):c.2694_2712del:p.Met899fs	coding	Pathogenic
5	78109968	A	AC	T78109977C	AP3B1	NM_003664.5(AP3B1):c.2397+231dup	noncoding	Benign
5	78140221	TGCAAATCTGGTAAATTATACTACTATTAAAAGTGGTTTCCCTTTCCTCTGCAGGACAAGGTCCATACTACTTAGCAGAGCATACAAGCCACTCCATGCGTTCAAACTGCAAAATGTCTTAGTCCATTTGGGCTACTGTTAGAAAATACCATAAACTGGGAAGCCTATTAATAATATAATTAATAATAAAAATTTATTTCTCACAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTACCCACAGTTCTGGTGTCTAGTGAGCACCCATTTTCTAATTTACAGATAGCACCTTCTCACTGTGTCCTCACATGGCAGAAGCAGCAAGCTAGCTCTCAGGGATCTCTTTTCTAAGAGCATAAAGTTCATTTATAAAGGCTCCACCCTTATGACCTAATCACCTCCCAAAGGTCCTACCTCCTAATACCATCACATGGGTGATCAGGTTTCACCACATGAACTTTGGGGGATATAAACTTTCAGACCATTGTACCTGCCATTCTGGACTCACCTTCAAAAAGTTTCCCAGAAACACCAAGCTGTTTCTTGACTCTGACCCTGTGCTTTCCTCTTTCTGTACAGTAAACCACTCTTACAAGCCCTTAGTCAAGAGTTTCATCCTTTATAAAATTTTCTCTGACCTCACATCGACTTCAGACTTTATAATTCGTCTAGAATTCCACTGTATGTCAATACTTCTGCTACAGCATTAACACACACTATTTCATTTTTTAATCTGTTTTCTCTCTTACTAGACTAGAATGTCATCTGTTTGCACTAGTATCATCTAACATAGAACCTGAAACAAACAGGCACCTAGAAATTGTTGAATGGTCAGACTAATGAAGGCACAGACCCCCGCTGTTTGATCAGAGTGAAGAGGAAAGTACGTATTAGATAGGTTGACTAACATTTGCCTCTCACCTGTTTGGAGTTGGTTAAATACAATTTTGCTCCCAGATTTAATATCTGCAGTTTTACCAGATCATCTTCACTAGTGAAGCTTTTAGCCATCTTCCTCAAAACATCAGGGGCAATTTTAGGAACTCGTTCACAGTTTTCTCCAATTAGCCAAAGAATACTTGCTCTAGCAACAGGAACCTAATATGAGAAGCAGATTACATAGTTAGAAGTAAGTTAATCATACTCTAATATTAACATAGAAAAGGTTTTAACTATTACAAAAGTTTTACAGCTATTAATTAATTTAATGTATATCTAGGAATTAATCCTGTATTTATGAATTTTCGTCAGTTATCAAAAAATAAACACATAGGAAATCTCATTAAAATTGATTTCGAAGAGAATATCTTAGAAAATATTCATACAGCAAAAACCGATGGTCTAGAATCTAGATTCTATCAGAGACGAACAAATTCTAGAAGCCAGTCTAGCTGCCCATACCTATTTGTTTCTCCATTATCTGTTGCTGCTTTTGTGCTATAATGGCAGAAATAGTTACAGTGAAGACCATATGGTCCTCAAAGCCAAAAATATTGACTGTCTAGCAATTTATAGAAATGGTTTGCTGACCCCTGCTCTAGAACAGCAGTTCCCAAACCTCAATGCCCACAAAAATCATCCAGGGTTCTTACTAAAAAGACAGGTCCTGGGATCAGCTCCAAAATAGTATTTCTGTGGTGGGGCCCAGAAATCTATGTTTTAATTTAAAAAGCATCACAGATGACTCCTGAGACAGGTGGTCCACAAAGCCCATTTGAGAACCCACAGATAATACAGAAAAAGAAACAGATCAATTAGGTACTATGATTCCAAATCAAAACTGTTTTTGCTCTTTATGTATTAGCATCTACAACACTGGAAATATATCAAACTGATAAGATCATCAAGGTCTGCTTATAAAATCATGAATCCCAGTCTATTATTTGGTCAACAAAAGAAACAGGGATAAATTTGTCCAATATTGCATTTTGGCACTATATTTTTAAATAAACTGCATTTCAATATAATTTATGTTCTTAAAAGTCACTGCTTTGTGACAAATTGGAAACCTTCCATCAGTACCATTAAGACCAACAATTTAGAGTATGCAAATTAGTTTTATTACTATTTGCTTATTTGCATCCTCCCCTATTCCAAAAGGAATTTGAGAGGGTGTGTAAATTCATTTCAGTGAACATTTTCACCTCGCACAGAAAATTTGTTTTTTATAATAAGTGAAAAGGCTGACAGCTATCATTAAAAGGTGGCATCACGAGGAAAGATAATGTTCTTTTTATGAAGTCCTTTTACAATTTCTCAAAGTCCTAATATTTTCTGTAGTTTCATGGCTATACATAGTAGGATTGTTAAAGAAAAAAGTGAGAATAAGGACCTTTCCATAGCTAAAATTTTATCACAATATCTACCATTGCAAAATCTTTCAAAACACCCACATTATGAAATTATATAAAAATATTAAGTTACAATATTGAGTCCTTCACTAGAATCAGAATGAGATGATCAAAAAAGCTTTTAAATAAAAAGGTATATATTTTAAAACAGTGTAACAGCATGTCTTTAAATTATTATTTAGCATGTTTGGTGAGACACAAGAAATCCATATACTTGTGCAATTAGAAAAAGGTCTAAGTGCTATTAAAAATCTATTCATGCAGTGTGATAAAACTGATGCCCTTACTGCATACTGATTTCTGGAAAGAAAAGAGGTTATTTCTAACGTTCCAAAGGTTACACTGCATTAAGACCTTACTCCCAATCTATTATTTTAAATTGGGCTAAAGAATAGTAATTGAGTGGTACATTAAATTTTCCAGTATAGAGGAATTCAAGTTGCCTGCCATAATGAAAGGTAGTTCTAAATAAGAATATATGTGCAACTTCAAATTTCAGTTATGCTAGATTTATTTTTCTTAAATATTTTATTATATATTGCTAGTATAAAAATCAGAATTCTATGACATACCATAATCTATTATCCCATTTTAAGTAATTTTCTTCTGGTAACAATCTTTTGCAATTAAAAAGACGATCCCAAAAACAAGTAATGTTTAAAGAGATTGTTTATATTCATGAATATACTAAAATTAAAATTAAAATATTGGAATACTGTAAACACTCACGATACATATATTTAAAATACAACTCTTTGAAAAAATTAAAAATCAATAAATCACAATGCTCACAATAAAAATCTCAAGATGGTGGTGAGAATAAGATTTGTAGTTTTCTAGAACTGAGCTAATAAAATCCCCAAGAATTTTTAAAACTTAGAAAACTTCACCACAAGAAATAATATCAATATAAATATACCAAACTTTTGGTGATGGCATTGTATTACAAAGCTTAGGAAACTGACAAAGACAACATTTTTGAGCAGGTGGATGGGATCAGAATACTAAGATTTTTGGATTCCAGCTTTCCCTTTCTCTTCCCATTAAGCAACAGGACTCTCATTTATACACCATTGACACTATGAATTCACAGCCACTACTTTCAAAGATTTGAAGCACCTGAAAAAAAGGCAAGTAAGAAAATTAGTCACTTTTTAGAGGCCAGGCACAGTGGCTCATGCCTAAAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGACAGGAGTTTGAGACCAGCCTGGCCAACATGGTGATACCCTGTCTCTACTAAATATACAAAATTAGCCTGGCACACTCCTGTAATTCCAGCTACTTGGGAGGCTAAGGTAAAAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGAAAAGTAAATTAGTCACTTTTTGTTCCCCATGGTCTTTTTAACCACAAAATAAATAGGAACACTGAAATAAAACCAAACTAATAATACACACACAGACACAGACACAGGTACAGACACACACACAGAGTCATACATATGATATAATACTTTCATTATGAAGCTCTGCTTTTCAATATTCTCAAAGACAAATTGGATTGTAAATGACTTTGCCTGATTCTTTATTCTAAATGCCCTGAGAAAGTGATTAAATGCACTTTTCAAACCTTGTACTAGAAGGCAGTTTCCACGGCCACCACAACCCATTAATTTGCCAGCAAAAACAAATAATGATTCCTAGCTCACCACAGCAGCTATAGAAAGACATCTAGAAAGATTTTGCAGATCACTCTGTAAGCAGTTCAATTTAAAAGCTATTGTGTTTCAACACCAGCCCACTGCACAGTGCAACAGTCCAAAGTAAACCCTACAAAAACATCAATTTCATTTATTTAAATTTGTCAAAGGCAAAATCAGTAGACATCTAAGCAAACTGCATACCAACAGCAAATCAGATCTAATACTCTGTATCTGGACTCAATATGCATTAAAGCCTAAGCCTGAATTACAATGGGGTGCCAGAGAAAGGGTGGGTAACTTGTGAAATGGCAGGCATCCTGTGAGGCATCTGGGCAACAAGGATACAAAGTGCTATTTCAATATTACTCAGTTTTTACAGAATAACATCTTTCAGTTGTTAAGATATGAAATCCCATCTGTCCCATTAAACATTATGTGAAATCCTGTCAGAGCAATCCACAGGTAGTATGGGTTGTTTTGTTGTTGTTGTTGTTTTTTAAAGACAGGGTCTTACTCTGTCATCCAGGCTGGAGTGCGGTGGTGCAATCATTGCTCACTACAACCTCAAACTCCTGGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCAGCTGATAGTATGCATTTTATTCTAGAAGAACTCCAAAACCAGTATTTATCATAAATGAAGGATACGCCAAAGGACAGAATACTCACAATCAGAACATGTAAGTTGACTGTATTACAGACATAAATCTATTTGATTTGACCGAATTCAAAATGTAAAATACATTTAAACTTTAGTTTTTATATTTTCAATTATTACTAAATAACCAATTAAAACAAAGCCCTCAATATGATAAAATCTATGTTCTCTTTTTAAAACAAATTACATAGCTAATATCTATTGAGCTCTTACCATGTGCCATGCACTGTTTTTGAGAGCTTTACGTATTTTCTCAGTCATTCATCGCCAAAGCCCTATGAAGTATGCTCTACTATGATCTGCACTAGACATATGAGGAAACTAGGTAACAAATGAGTTAAGAAACTTGCCCACATCTCACAGCTGGTTAGTGGTGGAACTAGGATCAGAACTCCAAATCTGAATCCAAAATTCATACTGGATCACTGGGTAGCGACAAAATGAGTGTGGTAAACTAGGAAGAATACTGGTCAGCAAGCTGTTGAGACCGGTTCTGATCCCACACTGATGGTGTTACATCAAGGAGGCAATTAACTTCACCTCACTGGGGTCATATTTACTTATTAATCAGATGAAGGATTATTCCTTCATCCTCTGTTTGTCTGCCACATTGTGCAATGGCTCCCTTAGTGCCTCCTGCCATTTCCCCAAGAGCCAGATTTTCAGGGCAGACCCAGGCCATCCTCTTGCCTGTTCCCACACCCGTGTATAGTGGGACATTTTCCCACTTCTTTCACCTCTTCTTTTAAGGATAGGTAAGGTGGCCAGGTGGGAAGAGGTCTTGCTATCACTTCTGTTCTCTCTCCTTCCAGAAGAAAGATGGACCCAGGATTCTGCCCTAATAAAGTGGCTCAGGCACTGAAGGAAAACATGCTCAATATTGACCCATTGTCCTTAGATATTGGACAGACTGGCTTTTCCTAAAATTGCAGTGTTTTAGAATGACACTCCTGGGTTTGATGGTGAAATAGGTAGAGATTCAGGAGGACAGAAGTCTCATTTAAGGCTCTTATTTTAAGGCTCACATTTTAAAATCACTTGCCTACGTTTAGGAGTTATCAGGTACTTGGTCGGATTAATAAAACACTGCTTTTATTTCCACATGGCCATTGTTCTTGTATAAACAGCTCTCCTGACTGGAACAGAGAGATTCTGGGGATTCAATCATTCTTCTTTCCTGACTTTGAAGTTATGTCTGCTACATCCCTCATCACCTTCTCCTGGGGTAACTTGTGGTTGACCATTTTGAGGGTTCTGCACAACAAATTGTTTTGATTCTTCCTTGCTTGTCCCACCTTCAAGCACTTCAGTTTCCTCAGATACGTTAGATGAGCAGTAACAACTAATTATCAGCTTTTCATTCTCCTTAAGTTCAAATGTGTGCTGTAGAATTCCATACAGCTTTCTTGTATTTTAATTTCTTTTATTATCATATTCCAGATTTGTCTACTTTTGTTACCTCTCTCTGCTTCATAATAATTAGAAGGGAATTTTGTTTTATTTTCTTTCCAAAAGACCAGATTTAACATGTACTTTTCAACTCATATATATTTTTTGTATTCTATTTTACAAAATCAGCATTGATCCCTCTTCTGTTTTGATTCGTTTTTCTTTTATTTTATATCCCTATACTTTAAAAATGGTGATCTTTATAACTTTAGCCATGTCCTACATGTTTTGAAATAAAGCATTTTATTTCCTGGGTTTTAGAAAAAAGTTTGCATTTCTTCTTTAAATGCATTCTTTAATCTGAAAGTACATTTCTTACTTTACAACTGGTCTGGTACCCTTTTAAATTATTTAAGTCTCATTTCATTGCTTAAGGTCAAAGAATGCAAAATCTTTAAGCTTCCTTTATGCCTAAATACATTCTTGATTTTTTGAAAATATTCACTGGATATACTCCTAAAAGTGGGTATTATCTGTTCAAGAGATATAAGGTTTTAGCTATATTTACTAAATAAGTTTTTGATTACTTAATTTTCTTACTTATATCTGTCTACTAGAAATATCTAATATGAGAGAAATACATTACAGTCACACATTGTAACTATTTTATCAATTTCTCCTCACATTTTGAATAGATTTTTCCTTTACATATTTATTTGGTTGCCATATTTTTTGTGCAAATAGGTTTGTGCTTATTACTTTCTTTACAAATTACCCTTTTTTCATTTTATAATGTTCCTTTTTATCTTGTTAAATGCTTTTAATTAACTGTAAATCTCACTTTCTTGTTCATATTTGCTTAATATCTCTTTCCTTACCTTCTTATTTTCAACTTTTATCACTTGATTAAGGTGCTTTAACTATAAATGGCCTGTAGCTAGTTTTTGTTTTTATTCCAATTTGTAAGTCTGTCTTTTGATGAGAAAATTCAGTCCATTCATATTCAAGATGAGAAATATTTGATTTTATTTCTTCCATCTTTATTACTTTTAAATACTTATTATTTATTTTACATTTGTTTTCTTTCTTTCTTATTTTTTTTCTGGCTTTGTAAAACTGCTATTTGTTCCTTTATTTTCCTTTGTGAATACTGAATTCTCACCATATTTTTGTATCTATTAATGGTTATCTTCTGAGAAAAACAAAAGCTGAAAAAAATAAGCTTTGCTATATAGAGCTGTAAGACTGTACTTATTTGGCTTATAGTCCAGCAACTGTTGAGAAAGTTGATGCATCAGCCAGGTGCCATGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGGGGTGAGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGGGAAACCCCATCTCTACTAAAAACACAAAAATTATCCAGGCACGGTGGCGCATGCCTGTAATCCCAACTACTCAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGATGAGATTGCGCCACTGCACTCCAGCCAGGGTGACAGAGCAAGACTCCATTAAAAAAAAAAAGGGAAAGAGAGAGAATGAGCGAGAAAAAGAAAGTTTACACATCAAAAGTATCTTCTGTATCCCTGGACATGAATATACTCAAATAGAAGAAAGTTTTCTTCCAAGAAAGCCTAGGGTTTGCCAGATACAGGCCTCATACACTGTTACAGGTTTTATGTATAGCAGCTGCACTCTCCTGAAGCCCTAGTACTTATAATTGCCTCTTCCTTTCTAAACAGGACCAGAACGAGTTTACTAGCACAAGTTTTAACTAAATTTTGCACAAGAAGTCTGGGGAGATACAGAACTCCTAGTTCCTTCTCATAATCAGATACATACTTCTCTACCATTACCTGTAAACAAGGTATTAA	T	G78140222C	AP3B1	NM_003664.5(AP3B1):c.1474-7072_1650+921del	noncoding	Pathogenic
5	78141130	AT	A	T78141133G	AP3B1	NM_003664.5(AP3B1):c.1650+12del	noncoding	Benign
5	78141173	T	TC	A78141177C	AP3B1	NM_003664.5(AP3B1):c.1619dup:p.Ala541fs	coding	Pathogenic
5	78165484	AGTT	A	T78165487C	AP3B1	NM_003664.5(AP3B1):c.1230+123_1230+125del	noncoding	Benign
5	78175691	A	AC	A78175693C	AP3B1	NM_003664.5(AP3B1):c.1101dup:p.Phe368fs	coding	Pathogenic
5	78227952	CAT	C	T78227956C	AP3B1	NM_003664.5(AP3B1):c.375+190_375+191del	noncoding	Benign
5	78228244	TA	T	A78228253T	AP3B1	NM_003664.5(AP3B1):c.280-6del	noncoding	Benign
5	78240902	AAC	A	C78240904G	AP3B1	NM_003664.5(AP3B1):c.237_238del:p.Phe80fs	coding	Pathogenic
5	78267612	G	GA	T78267621A	AP3B1	NM_003664.5(AP3B1):c.129-18dup	noncoding	Benign
5	78780440	CG	C	G78780445T	ARSB	NM_000046.5(ARSB):c.1558del:p.Arg520fs	coding	Pathogenic
5	78839143	CAAG	C	G78839146T	ARSB	NM_000046.5(ARSB):c.1213+210_1213+212del	noncoding	Benign
5	78955326	G	GAGCCCACTGCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA	A78955342T	ARSB	NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT:p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer	coding	Pathogenic
5	78955669	AATAT	A	T78955673A	ARSB	NM_000046.5(ARSB):c.691-171_691-168del	noncoding	Benign
5	78964406	CA	C	A78964410C	ARSB	NM_000046.5(ARSB):c.690+9del	noncoding	Benign
5	78964856	GT	G	T78964867A	ARSB	NM_000046.5(ARSB):c.500-251del	noncoding	Benign
5	78969036	GA	G	A78969038G	ARSB	NM_000046.5(ARSB):c.468del:p.Pro157fs	coding	Pathogenic
5	78969477	CA	C	A78969484G	ARSB	NM_000046.5(ARSB):c.313-286del	noncoding	Benign
5	78984990	TGTA	T	A78984996T	ARSB	NM_000046.5(ARSB):c.253TAC[1]:p.Tyr86del	coding	Pathogenic
5	78985075	GT	G	T78985077C	ARSB	NM_000046.5(ARSB):c.173del:p.Asn58fs	coding	Pathogenic
5	78985127	G	GC	G78985132C	ARSB	NM_000046.5(ARSB):c.121dup:p.Ala41fs	coding	Pathogenic
5	78985130	CCGGCGCCCGAGCCCGG	C	C78985138A	ARSB	NM_000046.5(ARSB):c.103_118del:p.Pro35fs	coding	Pathogenic
5	78985135	GC	G	C78985138G	ARSB	NM_000046.5(ARSB):c.113del:p.Gly38fs	coding	Pathogenic
5	78985184	A	AC	G78985186C	ARSB	NM_000046.5(ARSB):c.64dup:p.Val22fs	coding	Pathogenic
5	78985560	T	TA	G78985571A	ARSB	NM_000046.4(ARSB):c.-322dup	noncoding	Benign/Likely_benign
5	78985652	CAGTT	C	T78985655A	ARSB	NM_000046.4(ARSB):c.-410_-407delCTAA	noncoding	Benign/Likely_benign
5	79005225	G	GT	G79005228T	DMGDH	NM_013391.3(DMGDH):c.2385+46dup	noncoding	Benign
5	79031099	CGGGCAGCGGGGAGTG	C	G79031102A	DMGDH	NM_013391.3(DMGDH):c.1518-116_1518-102del	noncoding	Benign
5	79055758	CAT	C	A79055759G	DMGDH	NM_013391.3(DMGDH):c.375+50_375+51del	noncoding	Benign
5	80654344	C	CTGGCGCGTCCCGCCCAGGT	A80654345T	MSH3	NM_000791.4(DHFR):c.86+59_86+60insACCTGGGCGGGACGCGCCA	noncoding	Benign
5	80654570	GC	G	C80654576T	MSH3	NM_000791.4(DHFR):c.-82del	noncoding	Benign
5	80654848	AC	A	C80654849A	MSH3	NM_002439.5(MSH3):c.122del:p.Thr41fs	coding	Pathogenic
5	80654854	GCAGCCGAC	G	C80654858G	MSH3	NM_002439.5(MSH3):c.131_138del:p.Ala44fs	coding	Pathogenic
5	80654864	AGGTGGACCCTGGCGCTGCAGCGGCTGCAGCGGCCGCAGCG	A	G80654866C	MSH3	NM_002439.5(MSH3):c.139_178del:p.Val47fs	coding	Pathogenic
5	80654877	CGCTGCAGCG	C	T80654889C	DHFR;MSH3	NM_000791.4(DHFR):c.-406CGCTGCAGC[1]	coding	Benign/Likely_benign
5	80654905	G	GCCGCAGCGGCCGCAGCGC	C80654914G	DHFR;MSH3	NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG	coding	Benign/Likely_benign
5	80654908	G	GCGCCCCCAGCGCCCC	A80654910G	DHFR;MSH3	NM_000791.4(DHFR):c.-420G[5]CGCTGGGGGCG[1]	coding	Benign
5	80654923	C	CCCCCAGCTCCCGCCTTCCCG	G80654952C	MSH3	NM_002439.5(MSH3):c.205_224dup:p.His78fs	coding	Pathogenic
5	80654930	C	CTCCCGCCT	C80654946T	MSH3	NM_002439.5(MSH3):c.211_218dup:p.Gln74fs	coding	Pathogenic
5	80654939	TC	T	C80654942G	MSH3	NM_002439.5(MSH3):c.215del:p.Pro72fs	coding	Pathogenic
5	80654939	T	TCCCGCCCC	A80654948C	MSH3	NM_002439.5(MSH3):c.213_220dup:p.Gln74fs	coding	Pathogenic
5	80656414	AC	A	C80656415A	MSH3	NM_002439.5(MSH3):c.242del:p.Thr81fs	coding	Pathogenic
5	80656432	AAGAAG	A	A80656436C	MSH3	NM_002439.5(MSH3):c.263_267del:p.Lys88fs	coding	Pathogenic
5	80656464	TAAAA	T	A80656466G	MSH3	NM_002439.5(MSH3):c.293_296del:p.Lys98fs	coding	Pathogenic
5	80656518	GTC	G	C80656520G	MSH3	NM_002439.5(MSH3):c.347_348del:p.Ser116fs	coding	Pathogenic
5	80665175	TC	T	C80665176A	MSH3	NM_002439.5(MSH3):c.392del:p.Val130_Ser131insTer	coding	Pathogenic
5	80665180	GTC	G	C80665184G	MSH3	NM_002439.5(MSH3):c.400_401del:p.Leu134fs	coding	Pathogenic
5	80665226	C	CA	G80665230A	MSH3	NM_002439.5(MSH3):c.445dup:p.Ser149fs	coding	Pathogenic
5	80665286	G	GA	T80665288A	MSH3	NM_002439.5(MSH3):c.503dup:p.Asp168fs	coding	Pathogenic
5	80665305	TTC	T	C80665307A	MSH3	NM_002439.5(MSH3):c.523_524del:p.Leu175fs	coding	Pathogenic
5	80665357	T	TC	A80665359C	MSH3	NM_002439.5(MSH3):c.574dup:p.Gln192fs	coding	Pathogenic
5	80670106	CT	C	T80670111G	MSH3	NM_002439.5(MSH3):c.594del:p.Phe198fs	coding	Pathogenic
5	80670106	CTT	C	T80670110G	MSH3	NM_002439.5(MSH3):c.593_594del:p.Leu197_Phe198insTer	coding	Pathogenic
5	80670218	T	TA	C80670220A	MSH3	NM_002439.5(MSH3):c.702dup:p.Gln235fs	coding	Pathogenic
5	80670255	AG	A	G80670256T	MSH3	NM_002439.5(MSH3):c.739del:p.Val247fs	coding	Pathogenic
5	80670279	T	TAAGTATAGATTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	G80670295T	MSH3	NM_002439.5(MSH3):c.777_778insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAAGTATAGATTCTTT:p.Gly260delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer	coding	Pathogenic
5	80672235	A	AT	A80672242T	MSH3	NM_002439.5(MSH3):c.793-3dup	noncoding	Benign
5	80672275	AT	A	T80672278A	MSH3	NM_002439.5(MSH3):c.827del:p.His275_Leu276insTer	coding	Pathogenic
5	80672762	G	GA	C80672766A	MSH3	NM_002439.5(MSH3):c.934dup:p.Thr312fs	coding	Pathogenic
5	80672780	GC	G	C80672782A	MSH3	NM_002439.5(MSH3):c.951del:p.Ile318fs	coding	Pathogenic
5	80672851	TG	T	G80672853A	MSH3	NM_002439.5(MSH3):c.1022del:p.Gly341fs	coding	Pathogenic
5	80672864	CT	C	T80672869G	MSH3	NM_002439.5(MSH3):c.1027+11del	noncoding	Benign
5	80675050	C	CAGCT	T80675056G	MSH3	NM_002439.5(MSH3):c.1097_1100dup:p.Tyr367Ter	coding	Pathogenic
5	80675070	CT	C	T80675071G	MSH3	NM_002439.5(MSH3):c.1116del:p.Glu373fs	coding	Pathogenic
5	80675085	ATG	TT	A80675085T	MSH3	NM_002439.5(MSH3):c.1130_1132delinsTT:p.Asn377fs	coding	Pathogenic
5	80675085	ATGTT	A	T80675086A	MSH3	NM_002439.5(MSH3):c.1131_1134del:p.Asn377fs	coding	Pathogenic
5	80675111	AT	A	T80675116A	MSH3	NM_002439.5(MSH3):c.1161del:p.Phe387fs	coding	Pathogenic
5	80725439	CT	C	T80725445C	MSH3	NM_002439.5(MSH3):c.1341-8del	noncoding	Benign
5	80725524	CAGTTACAG	GGTAATATACATCACATTCAAGATAATGTTTGCTTCTTTTATTAATTTTTTTTTTTAATTTGAGACGATGTTTCACTCTTGCTCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCATTGCAGCCTTGACTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTACAGGCATGTGCTACCGTGCCTGGCTAATTTTTGTATTTTTTGTAGAGAGAGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGAGCTCAGGCAGTCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATTAAGCCACCGTGCCCGGCCAGCGTTTCCTTCTGGAAATCGTAGAGGGATGTGATT	C80725524G	MSH3	NM_002439.5(MSH3):c.1412_1420delinsGGTAATATACATCACATTCAAGATAATGTTTGCTTCTTTTATTAATTTTTTTTTTTAATTTGAGACGATGTTTCACTCTTGCTCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCATTGCAGCCTTGACTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTACAGGCATGTGCTACCGTGCCTGGCTAATTTTTGTATTTTTTGTAGAGAGAGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGAGCTCAGGCAGTCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATTAAGCCACCGTGCCCGGCCAGCGTTTCCTTCTGGAAATCGTAGAGGGATGTGATT:p.Ala471_Glu474delinsGlyTer	coding	Pathogenic
5	80725542	CA	C	A80725546G	MSH3	NM_002439.5(MSH3):c.1434del:p.Asp479fs	coding	Pathogenic
5	80728896	T	TGG	T80728897G	MSH3	NM_002439.5(MSH3):c.1499_1500insGG:p.Ile500fs	coding	Pathogenic
5	80741455	C	CT	A80741460T	MSH3	NM_002439.5(MSH3):c.1569-5dup	noncoding	Benign
5	80741466	A	AT	A80741471T	MSH3	NM_002439.5(MSH3):c.1575dup:p.Lys526Ter	coding	Pathogenic
5	80741502	CAATT	C	T80741506G	MSH3	NM_002439.5(MSH3):c.1611_1614del:p.Ile537fs	coding	Pathogenic
5	80741538	TA	T	A80741539C	MSH3	NM_002439.5(MSH3):c.1644del:p.Gln549fs	coding	Pathogenic
5	80741817	GT	G	T80741823G	MSH3	NM_002439.5(MSH3):c.1653+275del	noncoding	Benign
5	80744509	GAT	G	A80744512G	MSH3	NM_002439.5(MSH3):c.1660_1661del:p.Met554fs	coding	Pathogenic
5	80744528	GT	G	T80744531G	MSH3	NM_002439.5(MSH3):c.1679del:p.Leu560fs	coding	Pathogenic
5	80744539	GT	G	T80744543A	MSH3	NM_002439.5(MSH3):c.1691del:p.Val563_Leu564insTer	coding	Pathogenic
5	80744551	AC	A	C80744552T	MSH3	NM_002439.5(MSH3):c.1700del:p.Thr567fs	coding	Pathogenic
5	80744579	T	TA	G80744583A	MSH3	NM_002439.5(MSH3):c.1730dup:p.Lys578fs	coding	Pathogenic
5	80744587	TG	T	G80744590T	MSH3	NM_002439.5(MSH3):c.1738del:p.Trp579_Val580insTer	coding	Pathogenic
5	80744590	GT	G	T80744591G	MSH3	NM_002439.5(MSH3):c.1739del:p.Val580fs	coding	Pathogenic
5	80744600	CA	C	A80744601C	MSH3	NM_002439.5(MSH3):c.1749del:p.Leu584fs	coding	Pathogenic
5	80744610	AT	A	T80744612A	MSH3	NM_002439.5(MSH3):c.1760del:p.Lys586_Leu587insTer	coding	Pathogenic
5	80761534	C	CT	C80761539T	MSH3	NM_002439.5(MSH3):c.1764-8dup	noncoding	Benign
5	80761649	AG	A	G80761653A	MSH3	NM_002439.5(MSH3):c.1871del:p.Gly624fs	coding	Pathogenic
5	80761657	CTG	C	G80761659A	MSH3	NM_002439.5(MSH3):c.1877_1878del:p.Leu625_Cys626insTer	coding	Pathogenic
5	80761666	TTA	T	A80761668C	MSH3	NM_002439.5(MSH3):c.1886_1887del:p.Tyr629fs	coding	Pathogenic
5	80767934	GT	G	T80767936C	MSH3	NM_002439.5(MSH3):c.1900del:p.Ser634fs	coding	Pathogenic
5	80767942	CAA	C	A80767943G	MSH3	NM_002439.5(MSH3):c.1907_1908del:p.Gln636fs	coding	Pathogenic
5	80768027	AG	A	G80768028T	MSH3	NM_002439.5(MSH3):c.1992del:p.Gln664fs	coding	Pathogenic
5	80768050	A	AT	A80768055T	MSH3	NM_002439.5(MSH3):c.2018dup:p.Leu673fs	coding	Pathogenic
5	80768050	AT	A	T80768054A	MSH3	NM_002439.5(MSH3):c.2018del:p.Ile672_Leu673insTer	coding	Pathogenic
5	80768076	TC	T	C80768078A	MSH3	NM_002439.5(MSH3):c.2042del:p.Pro681fs	coding	Pathogenic
5	80768088	TTACTTAAAGA	T	T80768093C	MSH3	NM_002439.5(MSH3):c.2057_2066del:p.Leu686fs	coding	Pathogenic
5	80768849	CTG	C	T80768850A	MSH3	NM_002439.5(MSH3):c.2100_2101del:p.Glu701fs	coding	Pathogenic
5	80768851	GAATT	G	A80768853T	MSH3	NM_002439.5(MSH3):c.2103_2106del:p.Glu701fs	coding	Pathogenic
5	80768955	AAT	A	T80768957C	MSH3	NM_002439.5(MSH3):c.2207_2208del:p.Ile736fs	coding	Pathogenic
5	80769143	TAAC	T	A80769144T	MSH3	NM_002439.5(MSH3):c.2253+141_2253+143del	noncoding	Benign
5	80775707	TAAAG	T	A80775710C	MSH3	NM_002439.5(MSH3):c.2270_2273del:p.Lys757fs	coding	Pathogenic
5	80775713	ACT	A	C80775716G	MSH3	NM_002439.5(MSH3):c.2276_2277del:p.Ser759fs	coding	Pathogenic
5	80775721	GT	G	T80775722A	MSH3	NM_002439.5(MSH3):c.2282del:p.Val761fs	coding	Pathogenic
5	80775890	C	CT	G80775904T	MSH3	NM_002439.5(MSH3):c.2318+145dup	noncoding	Benign
5	80778813	TG	T	G80778814C	MSH3	NM_002439.5(MSH3):c.2413del:p.Ala805fs	coding	Pathogenic
5	80787657	AAGGAG	A	G80787659T	MSH3	NM_002439.5(MSH3):c.2530_2534del:p.Gly844fs	coding	Pathogenic
5	80792642	CAG	C	A80792645T	MSH3	NM_002439.5(MSH3):c.2544-88_2544-87del	noncoding	Benign
5	80792751	AAG	A	G80792753A	MSH3	NM_002439.5(MSH3):c.2564_2565del:p.Arg855fs	coding	Pathogenic
5	80792825	CA	C	A80792828T	MSH3	NM_002439.5(MSH3):c.2639del:p.Asn880fs	coding	Pathogenic
5	80813600	TAATGATA	T	A80813602T	MSH3	NM_002439.5(MSH3):c.2674_2680del:p.Met892fs	coding	Pathogenic
5	80813600	T	TA	T80813603A	MSH3	NM_002439.5(MSH3):c.2674dup:p.Met892fs	coding	Pathogenic
5	80813665	AC	A	C80813667A	MSH3	NM_002439.5(MSH3):c.2739del:p.Ile914fs	coding	Pathogenic
5	80813718	G	GT	A80813719T	MSH3	NM_002439.5(MSH3):c.2790_2791insT:p.Ile931fs	coding	Pathogenic
5	80813719	A	TC	A80813719T	MSH3	NM_002439.5(MSH3):c.2791delinsTC:p.Ile931fs	coding	Pathogenic
5	80854129	GGATGGGTGCTGCA	G	T80854132C	MSH3	NM_002439.5(MSH3):c.2816_2828del:p.Met939fs	noncoding	Pathogenic
5	80854141	CAGACA	C	G80854143T	MSH3	NM_002439.5(MSH3):c.2827_2831del:p.Asp943fs	coding	Pathogenic
5	80854146	A	AAT	A80854156T	MSH3	NM_002439.5(MSH3):c.2838_2839dup:p.Lys947fs	coding	Pathogenic
5	80854150	TA	T	A80854151T	MSH3	NM_002439.5(MSH3):c.2835del:p.Tyr946fs	coding	Pathogenic
5	80854192	CA	C	A80854193G	MSH3	NM_002439.5(MSH3):c.2877del:p.Ala960fs	coding	Pathogenic
5	80854251	A	AGAGG	C80854258G	MSH3	NM_002439.5(MSH3):c.2938_2941dup:p.Thr981fs	coding	Pathogenic
5	80854256	G	GA	C80854258A	MSH3	NM_002439.5(MSH3):c.2941dup:p.Thr981fs	coding	Pathogenic
5	80854281	A	AT	G80854284T	MSH3	NM_002439.5(MSH3):c.2967dup:p.Ala990fs	coding	Pathogenic
5	80854303	AT	A	T80854306C	MSH3	NM_002439.5(MSH3):c.2990del:p.Phe997fs	coding	Pathogenic
5	80854307	CAT	C	A80854308C	MSH3	NM_002439.5(MSH3):c.2992_2993del:p.Ile998fs	coding	Pathogenic
5	80864777	AAATG	A	T80864780A	MSH3	NM_002439.5(MSH3):c.3001-33_3001-30del	noncoding	Benign
5	80864864	GA	G	A80864871T	MSH3	NM_002439.5(MSH3):c.3059del:p.Asn1020fs	coding	Pathogenic
5	80864873	TACTC	T	T80864876A	MSH3	NM_002439.5(MSH3):c.3064_3067del:p.Ser1022fs	coding	Pathogenic
5	80873219	TC	T	C80873221T	MSH3	NM_002439.5(MSH3):c.3236del:p.Pro1079fs	coding	Pathogenic
5	83258641	TG	T	G83258643C	XRCC4	NM_003401.5(XRCC4):c.859del:p.Ala287fs	coding	Pathogenic
5	83521730	AC	A	C83521731A	VCAN	NM_004385.5(VCAN):c.3425del:p.Thr1142fs	coding	Pathogenic
5	83536996	G	GT	C83537004T	VCAN	NM_004385.5(VCAN):c.4004-4dup	noncoding	Benign
5	83547892	T	TATC	T83547896A	VCAN	NM_004385.5(VCAN):c.9380-78_9380-76dup	noncoding	Benign
5	83572419	TAC	T	A83572420G	VCAN	NM_004385.5(VCAN):c.9740_9741del:p.Gln3246_Tyr3247insTer	coding	Pathogenic
5	83581317	CAAAAAAAAA	C	A83581334G	VCAN	NM_004385.5(VCAN):c.*900_*908del	noncoding	Benign
5	83581317	CAAAAAAAA	C	A83581335G	VCAN	NM_004385.5(VCAN):c.*901_*908del	noncoding	Benign
5	87267958	C	CA	C87267960A	RASA1	NM_002890.3(RASA1):c.-493dup	noncoding	Benign
5	87268622	GGC	G	G87268623T	RASA1	NM_002890.3(RASA1):c.172_173del:p.Ala58fs	coding	Pathogenic
5	87268883	CCCTTTGGGGGCGGGCCT	C	C87268885G	RASA1	NM_002890.3(RASA1):c.434_450del:p.Pro145fs	coding	Pathogenic
5	87268888	T	TG	C87268894G	RASA1	NM_002890.3(RASA1):c.442dup:p.Ala148fs	coding	Pathogenic
5	87268948	AG	A	G87268950A	RASA1	NM_002890.3(RASA1):c.499del:p.Glu167fs	coding	Pathogenic
5	87268987	AC	A	C87268989A	RASA1	NM_002890.3(RASA1):c.538del:p.Gln180fs	coding	Pathogenic
5	87331423	TATAAG	T	T87331425G	RASA1	NM_002890.3(RASA1):c.617_621del:p.Ile206fs	coding	Pathogenic
5	87331426	AAG	A	A87331433T	RASA1	NM_002890.3(RASA1):c.625_626del:p.Glu208_Ser209insTer	coding	Pathogenic
5	87332232	CTG	C	T87332233A	RASA1	NM_002890.3(RASA1):c.693-274_693-273del	noncoding	Benign
5	87332487	A	AT	C87332494T	RASA1	NM_002890.3(RASA1):c.693-14dup	noncoding	Benign
5	87338006	ATGAAT	A	G87338008A	RASA1	NM_002890.3(RASA1):c.934_938del:p.Glu312fs	coding	Pathogenic
5	87349256	CTCCTGGCGATTATTCACTTTATT	C	T87349260G	RASA1	NM_002890.3(RASA1):c.1149_1171del:p.Gly384fs	coding	Pathogenic
5	87349308	TA	T	A87349312T	RASA1	NM_002890.3(RASA1):c.1201del:p.Ile401fs	coding	Pathogenic/Likely_pathogenic
5	87353220	AC	A	C87353222T	RASA1	NM_002890.3(RASA1):c.1319del:p.Pro440fs	coding	Pathogenic
5	87362535	G	GT	A87362542T	RASA1	NM_002890.3(RASA1):c.1333-10dup	noncoding	Benign
5	87363330	A	AT	A87363342T	RASA1	NM_002890.3(RASA1):c.1454-7dup	noncoding	Benign
5	87363352	AG	A	G87363354A	RASA1	NM_002890.3(RASA1):c.1460del:p.Gly487fs	coding	Pathogenic
5	87369857	A	AT	A87369860T	RASA1	NM_002890.3(RASA1):c.1657dup:p.Tyr553fs	coding	Pathogenic
5	87372039	G	GAA	C87372050A	RASA1	NM_002890.3(RASA1):c.1699-70_1699-69dup	noncoding	Benign
5	87372039	G	GA	C87372050A	RASA1	NM_002890.3(RASA1):c.1699-69dup	noncoding	Benign
5	87374147	A	AT	A87374161T	RASA1	NM_002890.3(RASA1):c.1777-3dup	noncoding	Benign/Likely_benign
5	87374147	AT	A	T87374160A	RASA1	NM_002890.3(RASA1):c.1777-3del	noncoding	Benign
5	87374202	C	CT	C87374204T	RASA1	NM_002890.3(RASA1):c.1817dup:p.Val608fs	coding	Pathogenic
5	87374309	G	GT	G87374313T	RASA1	NM_002890.3(RASA1):c.1926dup:p.Val643fs	coding	Pathogenic
5	87374460	T	TA	T87374461A	RASA1	NM_002890.3(RASA1):c.1934+140_1934+141insA	noncoding	Benign
5	87374729	G	GT	A87374741T	RASA1	NM_002890.3(RASA1):c.1935-100dup	noncoding	Benign
5	87374866	TTGAAA	T	G87374868A	RASA1	NM_002890.3(RASA1):c.1963_1967del:p.Glu655fs	coding	Pathogenic
5	87374883	A	AAT	A87374887T	RASA1	NM_002890.3(RASA1):c.1980_1981dup:p.Lys661fs	coding	Pathogenic
5	87374885	TAAAAC	T	A87374889G	RASA1	NM_002890.3(RASA1):c.1984_1988del:p.Thr662fs	coding	Pathogenic
5	87374895	AAAAGC	A	C87374900A	RASA1	NM_002890.3(RASA1):c.1995_1999del:p.Ser665fs	coding	Pathogenic
5	87376524	G	GA	T87376531A	RASA1	NM_002890.3(RASA1):c.2149dup:p.Ile717fs	coding	Pathogenic
5	87376902	CA	C	A87376903T	CCNH;RASA1	NM_002890.3(RASA1):c.2207del:p.His736fs	coding	Pathogenic
5	87376910	CTA	C	A87376912G	CCNH;RASA1	NM_002890.3(RASA1):c.2216_2217del:p.Tyr739fs	coding	Pathogenic
5	87376983	G	GA	G87376988A	RASA1	NM_002890.3(RASA1):c.2291dup:p.Leu765fs	coding	Pathogenic
5	87377021	CAG	C	G87377025A	RASA1	NM_002890.3(RASA1):c.2329_2330del:p.Glu777fs	coding	Pathogenic
5	87378439	CT	C	T87378441G	RASA1	NM_002890.3(RASA1):c.2390del:p.Thr796_Leu797insTer	coding	Pathogenic
5	87378469	TAC	T	C87378473G	RASA1	NM_002890.3(RASA1):c.2422_2423del:p.Gln808fs	coding	Pathogenic
5	87379745	CAA	C	A87379747G	RASA1	NM_002890.3(RASA1):c.2500_2501del:p.Lys834fs	coding	Pathogenic
5	87379766	A	ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC	A87379782T	RASA1	NM_002890.3(RASA1):c.2534_2535insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT:p.Leu845delinsPhePhePhePhePhePhePheXaaXaaXaaXaaPheTer	coding	Pathogenic
5	87379779	TT	ATTTGA	T87379779A	RASA1	NM_002890.3(RASA1):c.2532_2533delinsATTTGA:p.Asn844fs	coding	Pathogenic
5	87380552	CATAAGTGG	C	A87380553C	RASA1	NM_002890.3(RASA1):c.2648_2655del:p.His883fs	coding	Pathogenic
5	87386864	CAACA	C	A87386869T	RASA1	NM_002890.3(RASA1):c.2891_2894del:p.Lys964fs	coding	Pathogenic
5	87386897	AC	A	C87386898T	RASA1	NM_002890.3(RASA1):c.2920del:p.Asn976fs	coding	Pathogenic
5	87386900	TG	T	G87386904T	RASA1	NM_002890.3(RASA1):c.2925+1del	coding	Pathogenic
5	87389515	TG	T	G87389517T	RASA1	NM_002890.3(RASA1):c.3050del:p.Gly1017fs	coding	Pathogenic
5	88722571	GA	G	A88722584C	MEF2C	NM_002397.5(MEF2C):c.*32del	noncoding	Benign
5	88728629	CTAGAT	C	G88728632A	MEF2C	NM_002397.5(MEF2C):c.965-6_965-2del	coding	Benign/Likely_benign
5	88730028	CA	C	A88730039C	MEF2C	NM_002397.5(MEF2C):c.834+182del	noncoding	Benign
5	88730230	TCAGA	T	A88730232T	MEF2C	NM_001131005.2(MEF2C):c.805-887_805-884del	coding	Pathogenic
5	88731530	A	AT	A88731539T	MEF2C	NM_002397.5(MEF2C):c.810+191dup	noncoding	Benign
5	88731909	C	CA	C88731916A	MEF2C	NM_002397.5(MEF2C):c.638-14dup	noncoding	Benign
5	88751886	G	GT	A88751889T	MEF2C	NM_002397.5(MEF2C):c.559dup:p.Thr187fs	coding	Pathogenic
5	88804756	C	CA	T88804758A	MEF2C	NM_002397.5(MEF2C):c.99dup:p.Glu34Ter	coding	Pathogenic
5	88883253	A	AGG	C88883263G	MEF2C	NM_002397.4(MEF2C):c.-450_-449dup	noncoding	Benign/Likely_benign
5	88883309	GAGGAGGAGGAAGA	G	A88883323G	MEF2C	NM_002397.4(MEF2C):c.-523_-511TCTTCCTCCTCCT[1]	noncoding	Benign
5	90615098	CTGTT	C	T90615101A	ADGRV1	NM_032119.4(ADGRV1):c.207+82_207+85del	noncoding	Benign
5	90624877	T	TC	T90624882C	ADGRV1	NM_032119.4(ADGRV1):c.559-249dup	noncoding	Benign
5	90627309	G	GA	T90627315A	ADGRV1	NM_032119.4(ADGRV1):c.776dup:p.Asn259fs	coding	Pathogenic
5	90627623	T	TA	C90627625A	ADGRV1	NM_032119.4(ADGRV1):c.1086dup:p.Leu363fs	coding	Pathogenic
5	90627712	GTCCT	G	C90627714T	ADGRV1	NM_032119.4(ADGRV1):c.1176_1179del:p.Leu393fs	coding	Pathogenic
5	90627917	GACAC	G	C90627959A	ADGRV1	NM_032119.4(ADGRV1):c.1238+142AC[20]	noncoding	Benign
5	90627917	GAC	G	C90627961A	ADGRV1	NM_032119.4(ADGRV1):c.1238+142AC[21]	noncoding	Benign
5	90627917	G	GAC	A90627963C	ADGRV1	NM_032119.4(ADGRV1):c.1238+142AC[23]	noncoding	Benign
5	90627917	G	GACAC	A90627963C	ADGRV1	NM_032119.4(ADGRV1):c.1238+142AC[24]	noncoding	Benign
5	90627917	G	GACACAC	A90627963C	ADGRV1	NM_032119.4(ADGRV1):c.1238+142AC[25]	noncoding	Benign
5	90627917	G	GACACACAC	A90627963C	ADGRV1	NM_032119.4(ADGRV1):c.1238+142AC[26]	noncoding	Benign
5	90629257	A	AT	C90629264T	ADGRV1	NM_032119.4(ADGRV1):c.1563dup:p.Pro522fs	coding	Pathogenic
5	90629434	A	AAGGAGAAATG	C90629446G	ADGRV1	NM_032119.4(ADGRV1):c.1736_1745dup:p.Asp582delinsGluGluLysTer	coding	Pathogenic
5	90634806	CAGTT	C	G90634812T	ADGRV1	NM_032119.4(ADGRV1):c.1840-302_1840-299del	noncoding	Benign
5	90635173	T	TG	A90635178G	ADGRV1	NM_032119.4(ADGRV1):c.1903dup:p.Glu635fs	coding	Pathogenic
5	90635592	CT	C	T90635606C	ADGRV1	NM_032119.4(ADGRV1):c.2016+316del	noncoding	Benign
5	90637470	TAG	T	G90637472C	ADGRV1	NM_032119.4(ADGRV1):c.2017-253_2017-252del	noncoding	Benign
5	90637730	C	CA	T90637732A	ADGRV1	NM_032119.4(ADGRV1):c.2023dup:p.Ile675fs	coding	Pathogenic
5	90638011	AT	A	T90638021A	ADGRV1	NM_032119.4(ADGRV1):c.2240+73del	noncoding	Benign
5	90638244	T	TA	T90638255A	ADGRV1	NM_032119.4(ADGRV1):c.2240+306dup	noncoding	Benign
5	90643858	TG	T	G90643861A	ADGRV1	NM_032119.4(ADGRV1):c.2612del:p.Gly871fs	coding	Pathogenic
5	90644922	AT	A	T90644928A	ADGRV1	NM_032119.4(ADGRV1):c.2898+59del	noncoding	Benign
5	90646052	CTG	C	T90646053A	ADGRV1	NM_032119.4(ADGRV1):c.2984_2985del:p.Leu995fs	coding	Pathogenic
5	90646402	A	AT	C90646412T	ADGRV1	NM_032119.4(ADGRV1):c.3022+320dup	noncoding	Benign
5	90647615	CAA	C	A90647616G	ADGRV1	NM_032119.4(ADGRV1):c.3141_3142del:p.Asp1051fs	coding	Pathogenic
5	90647779	C	CT	A90647786T	ADGRV1	NM_032119.4(ADGRV1):c.3289+21dup	noncoding	Benign
5	90651387	TTCTC	T	C90651395T	ADGRV1	NM_032119.4(ADGRV1):c.3290-216TC[3]	noncoding	Benign
5	90652446	TC	T	C90652447A	ADGRV1	NM_032119.4(ADGRV1):c.3518del:p.Thr1172_Ser1173insTer	coding	Pathogenic
5	90652548	CT	C	T90652550G	ADGRV1	NM_032119.4(ADGRV1):c.3621del:p.Leu1207_Val1208insTer	coding	Pathogenic
5	90653285	T	TCCCTTTGGAGTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGATGTTCTAGATCTGATGATCTCGTGATTCTCCCGCCTCTGCCTCCCTATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A90653301T	ADGRV1	NM_032119.4(ADGRV1):c.3726_3727insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGATGTTCTAGATCTGATGATCTCGTGATTCTCCCGCCTCTGCCTCCCTATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTTTGGAGTTTTT:p.Ile1243delinsPhePhePhePhePhePheXaaXaaXaaXaaTer	coding	Pathogenic
5	90653300	T	TA	T90653302A	ADGRV1	NM_032119.4(ADGRV1):c.3727dup:p.Ile1243fs	coding	Pathogenic
5	90653807	CA	C	A90653809G	ADGRV1	NM_032119.4(ADGRV1):c.4235del:p.Lys1412fs	coding	Pathogenic
5	90653844	T	TGG	C90653847G	ADGRV1	NM_032119.4(ADGRV1):c.4271_4272dup:p.Leu1425fs	coding	Pathogenic
5	90657750	AGAT	A	G90657751A	ADGRV1	NM_032119.4(ADGRV1):c.4379-154_4379-152del	noncoding	Benign
5	90658061	GAT	G	A90658064C	ADGRV1	NM_032119.4(ADGRV1):c.4538_4539del:p.Tyr1513fs	coding	Pathogenic
5	90658238	C	CAAAT	G90658243A	ADGRV1	NM_032119.4(ADGRV1):c.4713_4716dup:p.Gly1573fs	coding	Pathogenic
5	90679261	TAAA	T	A90679266T	ADGRV1	NM_032119.4(ADGRV1):c.5444-283_5444-281del	noncoding	Benign
5	90679531	C	CT	G90679533T	ADGRV1	NM_032119.4(ADGRV1):c.5444-17dup	noncoding	Benign
5	90679563	AG	A	G90679566T	ADGRV1	NM_032119.4(ADGRV1):c.5461del:p.Val1821fs	coding	Pathogenic
5	90683710	A	AT	A90683712T	ADGRV1	NM_032119.4(ADGRV1):c.5790dup:p.Ile1931fs	coding	Pathogenic
5	90683859	A	AT	C90683866T	ADGRV1	NM_032119.4(ADGRV1):c.5944dup:p.Ser1982fs	coding	Pathogenic/Likely_pathogenic
5	90685597	TATAAATAAATAA	T	T90685631A	ADGRV1	NM_032119.4(ADGRV1):c.6275-182ATAA[8]	noncoding	Benign
5	90685597	TATAAATAA	T	T90685635A	ADGRV1	NM_032119.4(ADGRV1):c.6275-182ATAA[9]	noncoding	Benign
5	90685597	TATAA	T	T90685639A	ADGRV1	NM_032119.4(ADGRV1):c.6275-182ATAA[10]	noncoding	Benign
5	90685597	T	TATAA	A90685643T	ADGRV1	NM_032119.4(ADGRV1):c.6275-182ATAA[12]	noncoding	Benign
5	90685640	AAAAT	A	A90685646G	ADGRV1	NM_032119.4(ADGRV1):c.6275-134_6275-131del	noncoding	Benign
5	90685961	GA	G	A90685963G	ADGRV1	NM_032119.4(ADGRV1):c.6458del:p.Lys2153fs	coding	Pathogenic
5	90685966	TTAAA	T	T90685967G	ADGRV1	NM_032119.4(ADGRV1):c.6462_6465del:p.Phe2154fs	coding	Pathogenic
5	90690878	GGA	G	G90690879C	ADGRV1	NM_032119.4(ADGRV1):c.6789_6790del:p.Leu2265fs	coding	Pathogenic
5	90691260	C	CT	G90691267T	ADGRV1	NM_032119.4(ADGRV1):c.6951+225dup	noncoding	Benign
5	90691314	CAT	C	A90691325G	ADGRV1	NM_032119.4(ADGRV1):c.6951+274AT[5]	noncoding	Benign
5	90692776	G	GT	C90692778T	ADGRV1	NM_032119.4(ADGRV1):c.7124dup:p.Arg2376fs	coding	Pathogenic
5	90694189	AC	A	C90694190T	ADGRV1	NM_032119.4(ADGRV1):c.7434del:p.Phe2479fs	coding	Pathogenic
5	90694361	TGA	T	A90694365T	ADGRV1	NM_032119.4(ADGRV1):c.7609_7610del:p.Ser2537fs	coding	Pathogenic
5	90694442	G	GCCAAATATTTCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A90694455T	ADGRV1	NM_032119.4(ADGRV1):c.7698_7699insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAATATTTCT:p.Thr2567delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer	coding	Pathogenic
5	90696779	T	TAC	A90696781C	ADGRV1	NM_032119.4(ADGRV1):c.7946-157_7946-156insCA	noncoding	Benign
5	90703613	G	GTGAAGTTTAT	T90703625G	ADGRV1	NM_032119.4(ADGRV1):c.8156-50_8156-41dup	noncoding	Benign
5	90703675	AC	A	C90703676A	ADGRV1	NM_032119.4(ADGRV1):c.8167del:p.Gln2723fs	coding	Pathogenic
5	90704406	ATTGT	A	T90704411G	ADGRV1	NM_032119.4(ADGRV1):c.8309_8312del:p.Phe2770fs	coding	Pathogenic
5	90705482	T	TG	A90705485G	ADGRV1	NM_032119.4(ADGRV1):c.8471dup:p.Val2825fs	coding	Pathogenic
5	90706403	C	CT	A90706416T	ADGRV1	NM_032119.4(ADGRV1):c.8730+21dup	noncoding	Benign/Likely_benign
5	90706403	C	CTT	A90706416T	ADGRV1	NM_032119.4(ADGRV1):c.8730+20_8730+21dup	noncoding	Benign
5	90706403	CT	C	T90706415A	ADGRV1	NM_032119.4(ADGRV1):c.8730+21del	noncoding	Benign
5	90708736	GTTTAA	G	T90708742A	ADGRV1	NM_032119.4(ADGRV1):c.8731-74_8731-70del	noncoding	Benign
5	90711164	G	GT	G90711172T	ADGRV1	NM_032119.4(ADGRV1):c.8904-13dup	noncoding	Benign
5	90712399	CT	C	T90712400G	ADGRV1	NM_032119.4(ADGRV1):c.9156del:p.Gly3053fs	coding	Pathogenic
5	90712412	AG	A	G90712415A	ADGRV1	NM_032119.4(ADGRV1):c.9171del:p.Asn3059fs	coding	Pathogenic
5	90716531	C	CT	C90716537T	ADGRV1	NM_032119.4(ADGRV1):c.9254dup:p.Leu3086fs	coding	Pathogenic
5	90716703	GT	G	T90716707A	ADGRV1	NM_032119.4(ADGRV1):c.9425del:p.Val3141_Leu3142insTer	coding	Pathogenic
5	90720625	AT	A	T90720631A	ADGRV1	NM_032119.4(ADGRV1):c.9624-304del	noncoding	Benign
5	90724829	CA	C	A90724830G	ADGRV1	NM_032119.4(ADGRV1):c.9749-2del	noncoding	Pathogenic/Likely_pathogenic
5	90725601	AC	A	C90725602A	ADGRV1	NM_032119.4(ADGRV1):c.10107del:p.Asp3369fs	coding	Pathogenic
5	90725682	GT	G	T90725691G	ADGRV1	NM_032119.4(ADGRV1):c.10161+35del	noncoding	Benign
5	90729556	ATTT	A	T90729559A	ADGRV1	NM_032119.4(ADGRV1):c.10427-83_10427-81del	noncoding	Benign
5	90745058	T	TTA	T90745062A	ADGRV1	NM_032119.4(ADGRV1):c.10564_10565dup:p.Gly3523fs	coding	Pathogenic
5	90753345	A	AT	A90753355T	ADGRV1	NM_032119.4(ADGRV1):c.11122-220dup	noncoding	Benign
5	90753669	CACCCGTATCACCACAGAAGGGGTTGAGGACTCATACAAAGGTGCTACTATTGATCAGGACAGAAGCAAGTCTGTTATAACAACT	GATTGTGA	C90753669G	ADGRV1	NM_032119.4(ADGRV1):c.11217_11301delinsGATTGTGA:p.Thr3740fs	coding	Pathogenic
5	90755151	TAAAA	T	A90755152G	ADGRV1	NM_032119.4(ADGRV1):c.11547_11550del:p.Ile3849fs	coding	Pathogenic
5	90755267	A	ATCT	T90755272C	ADGRV1	NM_032119.4(ADGRV1):c.11580+84_11580+86dup	noncoding	Benign
5	90757378	C	CT	G90757379T	ADGRV1	NM_032119.4(ADGRV1):c.11940+217_11940+218insT	noncoding	Benign
5	90759521	TTGTG	T	T90759522G	ADGRV1	NM_032119.4(ADGRV1):c.12054_12057del:p.Val4018_Val4019insTer	coding	Pathogenic
5	90763155	T	TA	T90763164A	ADGRV1	NM_032119.4(ADGRV1):c.12121-142dup	noncoding	Benign
5	90763263	G	GT	G90763275T	ADGRV1	NM_032119.4(ADGRV1):c.12121-31dup	noncoding	Benign
5	90763263	G	GTT	G90763275T	ADGRV1	NM_032119.4(ADGRV1):c.12121-32_12121-31dup	noncoding	Benign
5	90763263	GT	G	T90763274G	ADGRV1	NM_032119.4(ADGRV1):c.12121-31del	noncoding	Benign
5	90763393	TC	T	C90763395G	ADGRV1	NM_032119.4(ADGRV1):c.12211del:p.Arg4071fs	coding	Pathogenic
5	90777930	GGGGA	G	G90777933T	ADGRV1	NM_032119.4(ADGRV1):c.12556_12559del:p.Glu4186fs	coding	Pathogenic
5	90778133	T	TTG	G90778146T	ADGRV1	NM_032119.4(ADGRV1):c.12666+91TG[7]	noncoding	Benign
5	90778533	CG	C	G90778535T	ADGRV1	NM_032119.4(ADGRV1):c.12775del:p.Val4259fs	coding	Pathogenic
5	90779059	A	AT	C90779064T	ADGRV1	NM_032119.4(ADGRV1):c.13048dup:p.Ser4350fs	coding	Pathogenic
5	90783203	CT	C	T90783204C	ADGRV1	NM_032119.4(ADGRV1):c.13312del:p.Ser4438fs	coding	Pathogenic
5	90783258	A	AC	A90783260C	ADGRV1	NM_032119.4(ADGRV1):c.13367dup:p.Val4457fs	coding	Pathogenic
5	90783279	CA	C	A90783283C	ADGRV1	NM_032119.4(ADGRV1):c.13391del:p.Asn4464fs	coding	Pathogenic
5	90788325	A	AT	C90788331T	ADGRV1	NM_032119.4(ADGRV1):c.13893+20dup	noncoding	Benign
5	90789718	AC	A	C90789721A	ADGRV1	NM_032119.4(ADGRV1):c.13913del:p.Pro4638fs	coding	Pathogenic
5	90789799	T	TG	C90789801G	ADGRV1	NM_032119.4(ADGRV1):c.13992dup:p.Leu4665fs	coding	Pathogenic
5	90789869	A	AT	C90789875T	ADGRV1	NM_032119.4(ADGRV1):c.14043+23dup	noncoding	Benign
5	90790773	AT	A	T90790783G	ADGRV1	NM_032119.4(ADGRV1):c.14044-90del	noncoding	Benign
5	90790773	ATT	A	T90790782G	ADGRV1	NM_032119.4(ADGRV1):c.14044-91_14044-90del	noncoding	Benign
5	90790866	AT	A	T90790870A	ADGRV1	NM_032119.4(ADGRV1):c.14044-3del	noncoding	Benign
5	90790951	GGA	G	A90790957T	ADGRV1	NM_032119.4(ADGRV1):c.14128_14129del:p.Glu4709_Ser4710insTer	coding	Pathogenic
5	90791182	AT	A	T90791184A	ADGRV1	NM_032119.4(ADGRV1):c.14355del:p.Asn4786fs	coding	Pathogenic
5	90802818	CA	C	A90802820C	ADGRV1	NM_032119.4(ADGRV1):c.14599del:p.Thr4867fs	coding	Pathogenic
5	90807616	T	TC	A90807620C	ADGRV1	NM_032119.4(ADGRV1):c.14854dup:p.His4952fs	coding	Pathogenic
5	90807625	GAACAA	G	A90807627G	ADGRV1	NM_032119.4(ADGRV1):c.14862_14866del:p.Gln4955fs	coding	Pathogenic
5	90810384	TATC	T	T90810386G	ADGRV1	NM_032119.4(ADGRV1):c.15126_15128del:p.Tyr5042_Gln5043delinsTer	coding	Pathogenic
5	90811300	A	AT	A90811302T	ADGRV1	NM_032119.4(ADGRV1):c.16041dup:p.Thr5348fs	coding	Pathogenic
5	90823450	TG	T	G90823452C	ADGRV1	NM_032119.4(ADGRV1):c.16224del:p.Trp5408fs	coding	Pathogenic
5	90823537	AC	A	C90823538A	ADGRV1	NM_032119.4(ADGRV1):c.16310del:p.Thr5437fs	coding	Pathogenic
5	90829089	GGCTGGCAGTGGCTCACA	G	G90829090A	ADGRV1	NM_032119.4(ADGRV1):c.16515_16531del:p.Leu5506fs	coding	Pathogenic
5	90840589	TG	T	G90840590C	ADGRV1	NM_032119.4(ADGRV1):c.16624del:p.Ala5542fs	coding	Pathogenic
5	90840905	GT	G	T90840906G	ADGRV1	NM_032119.4(ADGRV1):c.16940del:p.Val5647fs	coding	Pathogenic/Likely_pathogenic
5	90848779	TTTCTC	T	T90848781G	ADGRV1	NM_032119.4(ADGRV1):c.17164_17168del:p.Ser5722fs	coding	Pathogenic
5	90854218	T	TA	T90854226A	ADGRV1	NM_032119.4(ADGRV1):c.17594+24dup	noncoding	Benign
5	90985345	CTG	C	T90985348A	ADGRV1	NM_032119.4(ADGRV1):c.17978_17979del:p.Val5993fs	coding	Pathogenic
5	90985392	AGGCG	A	G90985393A	ADGRV1	NM_032119.4(ADGRV1):c.18023_18026del:p.Arg6008fs	coding	Pathogenic
5	90985435	CT	C	T90985439G	ADGRV1	NM_032119.4(ADGRV1):c.18069del:p.Phe6023fs	coding	Pathogenic
5	90985507	TC	T	C90985508A	ADGRV1	NM_032119.4(ADGRV1):c.18138del:p.Ile6047fs	coding	Pathogenic
5	91150009	C	CT	G91150026T	ADGRV1	NM_032119.4(ADGRV1):c.18433-5dup	noncoding	Benign/Likely_benign
5	91150011	T	TTTC	T91150014C	ADGRV1	NM_032119.4(ADGRV1):c.18433-17_18433-16insCTT	noncoding	Benign
5	93585381	T	TA	C93585383A	NR2F1	NM_005654.6(NR2F1):c.359dup:p.Tyr120Ter	coding	Pathogenic
5	93585450	CTC	TT	C93585450T	NR2F1	NM_005654.6(NR2F1):c.427_429delinsTT:p.Lys144fs	coding	Pathogenic
5	93588046	A	AC	A93588051C	NR2F1	NM_005654.6(NR2F1):c.597dup:p.Thr200fs	coding	Pathogenic
5	93593643	GCCAGTACC	G	G93593647A	NR2F1	NM_005654.6(NR2F1):c.1077_1084del:p.Tyr360fs	coding	Pathogenic
5	95469981	C	CTT	G95469995T	TTC37	NM_014639.4(TTC37):c.4366-84_4366-83dup	noncoding	Benign
5	95491031	GA	G	A95491032T	TTC37	NM_014639.4(TTC37):c.3807del:p.Pro1270fs	coding	Pathogenic
5	95495026	GA	G	A95495030T	SKIC3	NM_014639.4(SKIC3):c.3637-10del	noncoding	Benign
5	95512546	GCT	G	C95512549G	TTC37	NM_014639.4(TTC37):c.2849_2850del:p.Glu950fs	coding	Pathogenic
5	95513380	T	TG	T95513381G	TTC37	NM_014639.4(TTC37):c.2778+190_2778+191insC	noncoding	Benign
5	95516424	A	AT	C95516433T	SKIC3	NM_014639.4(SKIC3):c.2578-16dup	noncoding	Benign
5	95516753	GA	G	A95516757G	SKIC3	NM_014639.4(SKIC3):c.2437-4del	noncoding	Benign
5	95528117	T	TA	C95528119A	TTC37	NM_014639.4(TTC37):c.1029dup:p.Asn344Ter	coding	Pathogenic
5	95529045	AC	A	C95529046T	TTC37	NM_014639.4(TTC37):c.949del:p.Val317fs	coding	Pathogenic
5	95530120	CT	C	T95530125G	TTC37	NM_014639.4(TTC37):c.860del:p.Lys287fs	coding	Pathogenic
5	95543304	A	AT	C95543310T	TTC37	NM_014639.4(TTC37):c.113dup:p.Asn38fs	coding	Pathogenic
5	96400029	AATCC	A	T96400031C	PCSK1	NM_000439.5(PCSK1):c.1350_1353del:p.Val450_Asp451insTer	coding	Pathogenic
5	96410910	T	TC	A96410912C	PCSK1	NM_000439.5(PCSK1):c.958dup:p.Asp320fs	coding	Pathogenic
5	96412259	TCTC	T	C96412263A	PCSK1	NM_000439.5(PCSK1):c.882+56_882+58del	noncoding	Benign
5	96415805	A	AT	C96415815T	PCSK1	NM_000439.5(PCSK1):c.709+219dup	noncoding	Benign
5	96421993	TAAAAAAAAAA	T	A96422010G	PCSK1	NM_000439.5(PCSK1):c.544-47_544-38del	noncoding	Benign
5	96421993	TAAAAAAAAA	T	A96422011G	PCSK1	NM_000439.5(PCSK1):c.544-46_544-38del	noncoding	Benign
5	96421993	TAAAAAAAA	T	A96422012G	PCSK1	NM_000439.5(PCSK1):c.544-45_544-38del	noncoding	Benign
5	96421993	TAAA	T	A96422017G	PCSK1	NM_000439.5(PCSK1):c.544-40_544-38del	noncoding	Benign
5	96421993	TAA	T	A96422018G	PCSK1	NM_000439.5(PCSK1):c.544-39_544-38del	noncoding	Benign
5	96421993	TA	T	A96422019G	PCSK1	NM_000439.5(PCSK1):c.544-38del	noncoding	Benign
5	96425728	TAA	T	A96425742T	PCSK1	NM_000439.5(PCSK1):c.396+90_396+91del	noncoding	Benign
5	96425728	TA	T	A96425743T	PCSK1	NM_000439.5(PCSK1):c.396+91del	noncoding	Benign
5	96661873	C	CACAG	G96661875C	CAST	Single_allele	noncoding	Benign
5	96662653	G	GGCAGGTGGCAGCAGGTGGCT	T96662663A	CAST	NM_001750.7(CAST):c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC	noncoding	Benign
5	96662653	G	GGCAGGTGGCT	T96662674G	CAST	NM_001750.7(CAST):c.75+157GCAGGTGGCT[3]	noncoding	Benign
5	96736458	AAAAC	A	A96736467T	CAST	NM_001750.7(CAST):c.699+219AAAC[2]	noncoding	Benign
5	96765327	TAA	T	A96765352T	CAST	NM_001750.7(CAST):c.2037+27_2037+28del	noncoding	Benign
5	96765362	T	TA	G96765364A	CAST	NM_001750.7(CAST):c.2037+38dup	noncoding	Benign
5	96765814	AATAT	A	T96765816G	CAST	NM_001750.7(CAST):c.2038-237_2038-234del	noncoding	Benign
5	98856460	AAGG	A	G98856463A	CHD1	NM_001270.4(CHD1):c.5050_5052del:p.Pro1684del	coding	Benign
5	98885679	A	AT	A98885680T	CHD1	NM_001270.4(CHD1):c.2497-31_2497-30insA	noncoding	Benign
5	110742030	A	AT	A110742040T	SLC25A46	NM_138773.4(SLC25A46):c.284-8dup	noncoding	Benign
5	110742637	TTCTTTTCATGGGTCTATCCAAAGAATAAAATGAAATGTAATCTGTCTGTCTCCCATCAAAAAAGTAATTGTGCATGGAGGCTTCTTTCTAAACACTCTAATGCTTACAAGATATTTAGCAACATAGCATCTAGATTTTGTTCATAATCAGCGTTTGGTGATAGCATTACTTTTTTTTATATCTAACGATCATTTTAAGAAAATCCTTTAGTCTTGATTATTGTGATCCTTAGTGAATACCATTTTCAAAAATATTGGAATTGCACAAAGCTTACATTTCATGCCATAATGATCATTATTTTAAACATTTTAACGAAGAAAAACACCTTATTTGCATAATTAAACCCGAGGGTGTTAATGTCAATATAAATAAAATCTGTGTTTTCCATTCTGCTGGAGTTGTTTTTTGCTTCAATATTTATACTTAAAGCTTTGATTCATTTGATAGACTATTATTACATATAAATATGTGTGCACATGTATGTATATGTCACTCTGAGACCTGAAACCCACAGCTGTAATTGTTTTGTGGGGCACATTCTCAAAATAAATATTTGATACATAAATATTAGTCAATTAACATGGTCATTAAGAATCTTATAATTTAAGATTTATACTTAAATTTATACTTAAACCTTATAATTTAAGTGCACCAAAACCAAACATTTTTAGAATGGGGTTCATGAAGATCAAATGACTCTGCTGATAGGAATTCTGTTATTAGGACATTTTCTGAAAGAAATAATTTGCAGCATTAAATGCCATTTAATTGATGTGCCATTTCCCACATTAAACATTCAGAGATCTAGTTTCATCTTATACTATAGACATTAATATTATGTATTATGTATTGTTTCCCTTATTTACTAGTATGCAGATCTGGTTTTCATTCTTTTCATATTGAATTTCGTTATGGGTAGAATCATTTGCAAACATTTCTAGACATTTTTAAAGATCTATTTAATTTGTTTAAGAATGGAAAACATAAAATAATGCATGATTCTTCAGGCAAGAATAATTTCAGAAAGATACCTGTTGTAAATTTAATTTATCTCTATGTAGACATACATATACATAAATTATTTTTATATAGTCTCTTTACAGAAAATGTATTGGCACATCCTTGCATTGTTCTACGCCGCCAATGTCAGGTAAATGTAATTTCTGTGATCTTTTGAAGCAATACTTCTGACCCTAATATGAAGGGCAGAACTCACATAAATGACATGAAACCAGGTAATTGTTACTTCATGTGAAATGTTCCAAACTTTTTGGTCTCAAAACCTCTTTAAAGTCTTAAAAAAATATTGAGGATCCTAAATAACTTTGGTTTATGTTGGTCATATCTATTGATAGTTACCATTTCAGAAATTAAAATTGGGAAAATTTCAATGCATCTATATAATTCATTAAAATAATAACACCTGTTAGTAAGATAATATGTTTTTATGAAAGTAACTATTTTGCATTTTTGCAAATATCTTTAATATCTGACATAATAGGAGAGAGCCAGTTTCTCTCGTATGCTTCTGCAGTCAATCTGTTGCATCACGTGGTTTTTGAAAGAAGCAAGGAAGTTTAGTCTTGTACACATGTATAGTTGAAAGCAGGAGAGGAGTATATTATATTCTTTTGAGATAATTGTGGGTATTCTTTGCAATTGCACCAAAACTCACTGTGTCGCAGTTTCTTAAAGGTTATTTGCAATGTGAAATCAGAAATCATTTTAGTGAACTTTTTATACTTTGTTACATTAAAAAATCCATTTAACTATACTGCATCTTGAATAGATATTTTTACTTATGCCTGATTCCATGTAATTGTGCATAAGTTATTTGAAAAATATTGACCAATTGAGTTACATAGATCTTCCTGTTGTTAAAACATTTGATTATAAAATATCAAAAAATCATCTTCATTAAAAATACTACTGATCTCACTAGAAAAGTCTATAAGTATTGTCAGCTCTTGACGATGCATATAGATTTTCCAAAATTCTGAGTTTTAGTTGAAAATTCAAACTTATCATTGACAGTAAATACTGTTATTTATTTTTGTTTTAATCAACAATCTCACTTTGTTTATTTTTTAAAATATGTCTGTCCTGAAAGTGAATAGGTATAGTCCGTCAATGAGTTTTTCTAAGTAAAAATGATGTTCCGTGAAAAAAGTGGCTAGTTTAGCTTGCAGTTCTATCATACAAGTGCTTTCCTCATGACAGCAATCTTACTTCCTTATGTAACACACAGGATATTAATTAGAAAGAGGATGTGTACTCAAAGGTCAAGGATTCATAAAATTAACATTTTGTTACTTCATTGTCAAGGATATTACTATATGAAGGTTGCTTTTTTCTCTCTATGGGTAAATGAGGTGAAAAATTACTGTAAGTA	T	T110742638C	SLC25A46	NM_138773.4(SLC25A46):c.326+549_385-1240del	noncoding	Pathogenic
5	110755516	GA	G	A110755519T	SLC25A46	NM_138773.4(SLC25A46):c.618del:p.Lys206fs	coding	Pathogenic
5	110761191	A	AT	A110761197T	SLC25A46	NM_138773.4(SLC25A46):c.679-8dup	noncoding	Benign
5	111094907	C	CT	A111094914T	WDR36	NM_139281.3(WDR36):c.163-7dup	noncoding	Benign/Likely_benign
5	111100646	AT	CC	A111100646C	WDR36	NM_139281.3(WDR36):c.467_468delinsCC:p.His156Pro	coding	Benign
5	111102129	A	AT	G111102131T	WDR36	NM_139281.3(WDR36):c.543-215dup	noncoding	Benign
5	111102301	C	CA	T111102315A	WDR36	NM_139281.3(WDR36):c.543-31dup	noncoding	Benign
5	111107748	T	TG	C111107749G	WDR36	NM_139281.3(WDR36):c.1326+309_1326+310insG	noncoding	Benign
5	111110756	A	AT	C111110767T	WDR36	NM_139281.3(WDR36):c.1442-22dup	noncoding	Benign
5	111113050	A	AT	A111113052T	WDR36	NM_139281.3(WDR36):c.1717-23dup	noncoding	Benign
5	111113050	ATATT	A	A111113052T	WDR36	NM_139281.3(WDR36):c.1717-22_1717-19del	noncoding	Benign
5	111113053	T	TA	T111113054A	WDR36	NM_139281.3(WDR36):c.1717-21_1717-20insA	noncoding	Benign
5	111113054	T	TATATA	T111113055A	WDR36	NM_139281.3(WDR36):c.1717-20_1717-19insATATA	noncoding	Benign
5	111113441	C	CT	G111113447T	WDR36	NM_139281.3(WDR36):c.1796+293dup	noncoding	Benign
5	112707477	AG	A	G112707478C	APC	NC_000005.9:g.112043175del	noncoding	Benign
5	112707546	A	AG	C112707552G	APC	NM_001127511.3(APC):c.-167dup	noncoding	Benign
5	112707584	T	TG	C112707585G	APC	NM_001127511.3(APC):c.-134_-133insG	noncoding	Benign/Likely_benign
5	112707584	T	TGG	C112707585G	APC	NM_001127511.3(APC):c.-134_-133insGG	noncoding	Benign
5	112707585	CG	GT	C112707585G	APC	NM_001127511.3(APC):c.-133_-132delinsGT	noncoding	Benign
5	112737856	GCTGTATTGGTGCAGCCCGCCAGGGTGTCACTGGAGACAGAATGGAGGTGCTGCCGGACTCGGAAATGGGGTAGGTGCTGGAGCCACCATGGCCAGGCTTGCTGCGGGGGGAGGGGGGAAGGTGGTTTTCCCTCGCACTGTCTTAAACCGATGGCCTTTCCTTGGCACAGGGTCCACTGCAGCATGCCAAACGAGGAGGCAGGGGCGTCGTCCCCCCGCCCCCCACTGCAGCACTGGAGATGGATTTCCTGTACTTCGGATCCAGGGTTTTTGACAGAAGAGGAAGAAGGGGGAGGGGTAGAAGTGTTAAGGGGAGTCTGCTGAGAAAAGCTGTTTTTGAAGCCAGAAGGGGTTTTTGTTTTTATAATGCCATTTGACAGAGTGGAATAACAGTATCTAAGGAAACGGGTAGAGGACAACAAAGAATGGAGCATATTCATGGCGAGGAGCAAAAGCTCTACCCCATTGAAAGGCTTCTTTTCCTCCCTGGCGACAAGGACACATGCATTGGTGGCCAAAAGAGAGAGGAGACAAAACCGCTGCAGATGGCTGATGTGAATCTAGTGGAAAGAGCTACTGGGGATGAGAGAAAGAGGAGGAGGCAGGTACTGCAGAGCGTGAGTGGTGGTGTTGGTTGGTGAAATACTGGTCACCAGTAGTGTGCCTGCTTTTGTAAAACATCTAAGTAAACTCCCTGTGAACAGGGTGGCAAACAGATACCAGTGTCTTTGTTAGTTACAAAATGCAGTGGTAGTGGCTTTTTGCGGACGACTGCAGCAGTGCTTTTTCTCCCTCTGTTAGGCCGAAAAGACAACTGCAGAGGAATAAGAAACCTTGCAGCAAATGCTGGGGTAGAAGCCCATTTACAAGAAGCCATAGTTTATAAATGCAGCCTGAACAGCAGAAAAAAAATTACTGTTTTTT	G	C112737857A	APC	NM_001127511.3(APC):c.166-28469_166-27547del	noncoding	Pathogenic
5	112737858	TG	T	G112737859T	APC	NM_001127511.3(APC):c.166-28467del	noncoding	Pathogenic
5	112754888	AGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAGGTATCAAGACTGTGACTTTTAATTGTAGTTTATCCATTTTTATTCAGTATTCCCTCTTGTAAACTTGAGGTAAGACACTTTACTTAAAAGTGTATTTTAAATTAAGCAATAATATGTAAACTCTTTCTTGCAAAAGTTAGCATTTATATTTTTAAATAAGATATATTGAATTCATTCAGTGAATCATATAAAGAAAATAAGTGTAAAACTCCAATGGCTAGTTAGTTCTTAGTTCTTTTTAAGATTAAAGAGAAGAGACCAAATATAGCATCACTGTACTGAGGCAAGGTTTTCTGTGTAGTTCATAGAAACTAGCCTCATGATTTTAGAATATGCCTTGAATATTAAGTGTAGCCTTCCTCCCCAACTCCCTCAGATCTTGCCACCCCTTAAGTGCTGCAGTGATAGGTGATCAAGAAAATCAGGATACCCTACTGGGAAGAGCCATGAACTGAAAGTCAGTACCTGGTTCTATCCCTGGCTTTCCCACAAACTGAGCTATATGACCTCTGTATATTCTTCAGAACTTAAGTTGTCTTATTTGGCAAGTACAGGCATCACACTAGTCTAGATGATTTCCATGGCACCTTCAAGCCCTAAAATTGGCTTGCCAAATAGTACTGAAAAGTTCTGATCACCTCCAAGACAGGTTAGAAAATCGTCTATAGTGGGGAAAATGTTCTGGTTTCAAAATAATTGAGGTTAAAACTTTAGCCATTTTAATTCCCACTTAGGCAGATTCTCTTCTGACTGAATTTAATAACTTCATAGAATTGGACATTATCAACAAAAATATTACTTCCACCGGGTGTGATGGCTCAGGCCTGTAATCCCAGCTCTTAGTGAGGCAGAGGCAGGAGGATAGCTTGAGCCAAGGAGCTCGAGACCTGCCTGGGCAATATAGCAAGACCCCATTCTCAAAAAAAAAAAAAAATTACTTCCTTTATAAAAAAAAAAATCTTCCTGCTTTGTGTTGTTTCTCCCTCTTGGCTATTTTAACATTTGAGTTCCTGGTCCAGTTCTTCCTGTCTGTTCACTACTCTTATTCCTTACTAATTTCCTATTCTATCCTAGTTTTTTTCCTATGCATTTCAAGGTTTCCCTTATTCTCCAGACTTTTGTGTGTCACTGAGGTAACTGTTTCTGCTTCTCTTTTACCCTTTATATTCAGTATCATCACAGCTCAACCTTTGCTCATGTGTCCTATTCTCTTTTTCCATCCCTCTATCAATCTTTTCTACTCTAATTAGCCTCTTCTGTGGTAAAACTGTCCC	A	G112754889C	APC	NM_000038.6(APC):c.-2_135+1274del	coding	Pathogenic
5	112754888	AGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAGGTATCAAGACTGTGACTTTTAATTGTAGTTTATCCATTTTTATTCAGTATTCCCTCTTGTAAACTTGAGGTAAGACACTTTACTTAAAAGTGTATTTTAAATTAAGCAATAATATGTAAACTCTTTCTTGCAAAAGTTAGCATTTATATTTTTAAATAAGATATATTGAATTCATTCAGTGAATCATATAAAGAAAATAAGTGTAAAACTCCAATGGCTAGTTAGTTCTTAGTTCTTTTTAAGATTAAAGAGAAGAGACCAAATATAGCATCACTGTACTGAGGCAAGGTTTTCTGTGTAGTTCATAGAAACTAGCCTCATGATTTTAGAATATGCCTTGAATATTAAGTGTAGCCTTCCTCCCCAACTCCCTCAGATCTTGCCACCCCTTAAGTGCTGCAGTGATAGGTGATCAAGAAAATCAGGATACCCTACTGGGAAGAGCCATGAACTGAAAGTCAGTACCTGGTTCTATCCCTGGCTTTCCCACAAACTGAGCTATATGACCTCTGTATATTCTTCAGAACTTAAGTTGTCTTATTTGGCAAGTACAGGCATCACACTAGTCTAGATGATTTCCATGGCACCTTCAAGCCCTAAAATTGGCTTGCCAAATAGTACTGAAAAGTTCTGATCACCTCCAAGACAGGTTAGAAAATCGTCTATAGTGGGGAAAATGTTCTGGTTTCAAAATAATTGAGGTTAAAACTTTAGCCATTTTAATTCCCACTTAGGCAGATTCTCTTCTGACTGAATTTAATAACTTCATAGAATTGGACATTATCAACAAAAATATTACTTCCACCGGGTGTGATGGCTCAGGCCTGTAATCCCAGCTCTTAGTGAGGCAGAGGCAGGAGGATAGCTTGAGCCAAGGAGCTCGAGACCTGCCTGGGCAATATAGCAAGACCCCATTCTCAAAAAAAAAAAAAAATTACTTCCTTTATAAAAAAAAAAATCTTCCTGCTTTGTGTTGTTTCTCCCTCTTGGCTATTTTAACATTTGAGTTCCTGGTCCAGTTCTTCCTGTCTGTTCACTACTCTTATTCCTTACTAATTTCCTATTCTATCCTAGTTTTTTTCCTATGCATTTCAAGGTTTCCCTTATTCTCCAGACTTTTGTGTGTCACTGAGGTAACTGTTTCTGCTTCTCTTTTACCCTTTATATTCAGTATCATCACAGCTCAACCTTTGCTCATGTGTCCTATTCTCTTTTTCCATCCCTCTATCAATCTTTTCTACTCTAATTAGCCTCTTCTGTGGTAAAACTGTCCCCAGCAATGACAGACATCCAATATACCTACTTCAAATCCCTTGGGAAATAAGGTAGACTATAAACAAACATTTTATTCTTTCCACAAACTATGGGTGACCTAAAAAGACTTGCATTAGTTGCCTAACAGGTTAAAAAAGAGTAGTTTGGTATTTTAACATTGATCAACACATTACATTTCAAATCATTATACTTGGCATGTGTTTTTAAAAGTTTTAAAATACAGAATTAAAATATTCTTTCATCTACTTTAGTATGGTATATTTCGCAGAGAACTCCTCCTGGCAGGCCTGTTTAGATAGTACATGTCTGTTTTGTAGTGTAGAACTCTGAGATCTCTTTTTTAAAGTTTGTTTAATTCCTTAAGCAATTCAAAACTCATATTTGAGAGACAATGTAACTTACCCTTAGATCCATCTCCACACTGAAGTGGAATGTCTCTCAGAGTGACAATAGAAGTCACACCCTCAAATTTCTACAGTGGAATATCTAGTTGATCATTTATATGTGTGGTATAATACAAGTTGAGTATCCCTTACCCAAAATTGCTTC	A	G112754889A	APC	NM_000038.6(APC):c.-2_135+1824del	coding	Pathogenic
5	112754888	AGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAGGCATCTAATATGAAGGTATCAAGACTGTGACTTTTAATTGTAGTTTATCCATTTTTATTCAGTATTCCCTCTTGTAAACTTGAGGTAAGACACTTTACTTAAAAGTGTATTTTAAATTAAGCAATAATATGTAAACTCTTTCTTGCAAAAGTTAGCATTTATATTTTTAAATAAGATATATTGAATTCATTCAGTGAATCATATAAAGAAAATAAGTGTAAAACTCCAATGGCTAGTTAGTTCTTAGTTCTTTTTAAGATTAAAGAGAAGAGACCAAATATAGCATCACTGTACTGAGGCAAGGTTTTCTGTGTAGTTCATAGAAACTAGCCTCATGATTTTAGAATATGCCTTGAATATTAAGTGTAGCCTTCCTCCCCAACTCCCTCAGATCTTGCCACCCCTTAAGTGCTGCAGTGATAGGTGATCAAGAAAATCAGGATACCCTACTGGGAAGAGCCATGAACTGAAAGTCAGTACCTGGTTCTATCCCTGGCTTTCCCACAAACTGAGCTATATGACCTCTGTATATTCTTCAGAACTTAAGTTGTCTTATTTGGCAAGTACAGGCATCACACTAGTCTAGATGATTTCCATGGCACCTTCAAGCCCTAAAATTGGCTTGCCAAATAGTACTGAAAAGTTCTGATCACCTCCAAGACAGGTTAGAAAATCGTCTATAGTGGGGAAAATGTTCTGGTTTCAAAATAATTGAGGTTAAAACTTTAGCCATTTTAATTCCCACTTAGGCAGATTCTCTTCTGACTGAATTTAATAACTTCATAGAATTGGACATTATCAACAAAAATATTACTTCCACCGGGTGTGATGGCTCAGGCCTGTAATCCCAGCTCTTAGTGAGGCAGAGGCAGGAGGATAGCTTGAGCCAAGGAGCTCGAGACCTGCCTGGGCAATATAGCAAGACCCCATTCTCAAAAAAAAAAAAAAATTACTTCCTTTATAAAAAAAAAAATCTTCCTGCTTTGTGTTGTTTCTCCCTCTTGGCTATTTTAACATTTGAGTTCCTGGTCCAGTTCTTCCTGTCTGTTCACTACTCTTATTCCTTACTAATTTCCTATTCTATCCTAGTTTTTTTCCTATGCATTTCAAGGTTTCCCTTATTCTCCAGACTTTTGTGTGTCACTGAGGTAACTGTTTCTGCTTCTCTTTTACCCTTTATATTCAGTATCATCACAGCTCAACCTTTGCTCATGTGTCCTATTCTCTTTTTCCATCCCTCTATCAATCTTTTCTACTCTAATTAGCCTCTTCTGTGGTAAAACTGTCCCCAGCAATGACAGACATCCAATATACCTACTTCAAATCCCTTGGGAAATAAGGTAGACTATAAACAAACATTTTATTCTTTCCACAAACTATGGGTGACCTAAAAAGACTTGCATTAGTTGCCTAACAGGTTAAAAAAGAGTAGTTTGGTATTTTAACATTGATCAACACATTACATTTCAAATCATTATACTTGGCATGTGTTTTTAAAAGTTTTAAAATACAGAATTAAAATATTCTTTCATCTACTTTAGTATGGTATATTTCGCAGAGAACTCCTCCTGGCAGGCCTGTTTAGATAGTACATGTCTGTTTTGTAGTGTAGAACTCTGAGATCTCTTTTTTAAAGTTTGTTTAATTCCTTAAGCAATTCAAAACTCATATTTGAGAGACAATGTAACTTACCCTTAGATCCATCTCCACACTGAAGTGGAATGTCTCTCAGAGTGACAATAGAAGTCACACCCTCAAATTTCTACAGTGGAATATCTAGTTGATCATTTATATGTGTGGTATAATACAAGTTGAGTATCCCTTACCCAAAATTGCTTCAGGCCAGAAGTGTTTTGGATTTTATATTTTTTCAGATTTTTAAATACTTGTATTATACTTCTTGAGCATTCCTAATTCGAAAATCCAAAATCTGAAATGCTCCATTGAGCATTTCGTTTGAGTGTCATGTTGGTGCTCAGAAAGCTCAAGACTTTGGAGCATTTCAGACTTCAAATTTTCGGATTTAGAATGCTCAACCTATATACATCAGGAATAGTGGCACTTCAGATATACCTGAAACCAACCATAAATTTTATTTTACTCAGCATGTGCTTCAACAGACATCTTGTGAATCCATTAACATATTTCCTTAGAATTGGACATGTGGTACCATAACAATTACAGCCCTGTAATGAAATTATATCTCTTTTTAAGGTTTTATGCTGTGAAAGAGCATAAACCATGAGCTATTTATTTTGTCTTAGAATATTGTTTTGTGTAGACACTTTTGAAACCATTGGCACTTCCTACTGTGGATTAAAATTAATCCACACAATGGTTATTTCTCCCAAAATCACTTGCTAGACTTTGTAATACCTTATATAAACTCGAATCACGTTTCCTGTTCATTAATCTCTTTACCCCCAAAAAAGGCAAAAGGAGGCTGGGCACCGTGGCTCATACCTATAATCCTAGCACTTTCGGAGGCCAAGCAGAAAGATTGTTTGAGCTCAGGAATTTGAGACCAGCCTGGGCAACATGGCAAGACTCTGTTTCTGCAAAAAAATACAAAAATTAGCCAGGTGTGGCGTATATCTGTGGTCCCAGCTACTTGGAAGGCTGAGGTGGGAAGATTGTACTCCAGCCTGGGCAAAAGAGCCAGACCTGGTCTGTCTGAAAAACAAAAACAAAAACAAAACAAAAAACAGCAAAAAGTAGGTCTCCTCCAACCGGATTACTTAAAGTCTAAAATTTATGTAGTAGTACCATCTAGTGGCAAAAGAGGACACTGCTTTGCTATTTGATTATATGTGTCTTTGTAGCAGCCAGGGAAATAAGTGTTTATGGGTTAGGGAAATGTGAACACTGTATATTAAGGAAATATTTATTTTTAAGTATAATGATATTATTGTGTTTGTGTTTAGAAAGAATCCTTGTTTAAATATACATATTGAAATATTTACAAAGAAGTTGTATGATGCCTGAGCTTTATTTTAAAAATAAGTCTGAGGCAGAGGGGTGGAAATAGAGGAAGTGGATATGGGTGTAGATGAGATAAAACTGACCATGAATTGATAATTATTGATGTGGGATATGAAGGTACATGGGGCTTTGTTATAATTTTCTGCATACTTAGGTATATGTTTGAAATTTTTTGTAATGAAAATAAAATAGAGATTACATGGAATTTAGATGATATGAAATCAGATAAATGCAGAATTATAGCTAATCTTAAAAAAAGTTGTGTAGTGTATTTTTTACTCCATGGCTAGAGCCCTCCCCCCAACTTGTTTTTTTTGTTTGTTTGTTTTTTGTTTTTTGTTTTTTGTTTTGAGACGAAGTCTCACACTGTCGCCTGGGCTCTGGTGTGCAGTGGGGCAATCTCGGCTTGCTGCAGCCTCCGCCTCCCGGGTTCAAGCGGTTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACGGGTGTGCACCACCACGCCCGGCTAATTTTTATATTTTTAGTACAGACGGGGTTTCACTATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCCCCTCCCCACAACTTTTTTTTAGATGGAGTTTCGTTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACAATTTTGGCTCACTGCAGCCTCCACCTCCTGGGCTCCCAGAGTAGCTGGGATTACAGGTCCCTACCGCCACGCCCGGCTAATTTTTGTATTTTAGTAGAGACGGAGTTTTGCCATGTTTGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCTCAAAGTACTGGAATTACAGGCATGAGTCACCGCACCCAGCCTACCTAGAGCTCTTTAATTGACTTTAAAATACTGAGTATAGCAACAAGGTAAATATGGCATTTTAGAGATAAAAAGCTGAAAGATGGCATGGTGTAGGAAGAATTATCTATAGGCAAGTTATTGAAGCATTTACATCTTTGTTGTAGTTTGACAAAATTTAATATTTATAAATTGGTCTATAAACTGTAAAACAATATACATGTAAAGTATATCTTTTCAGAAAGTAAGGAAAAACCGAGATCAACATTTCAGAATGTATTTTGAAGATGTAATTATCAAGTGTACTTATATCTGGTAATGAAAAGCATCTTTAATTATGATATACTGAAATAAATAAAAGTGGGTCAAGTAGCAGCCTCCCTGAAATGACAAAGTTGCTCATAGATAAATATCACTGGTATAACCACAGCAGATTTCATTTCTAATGAATAATTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGACATGATCTTGGCTGTCTGCAACCTCCGCCTCCCGGGTTCAAGCTAATCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTAGCCAGGATGTTCTCAATTTCTTGACCTTGTGATCCTCCTGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTAATGAATAATTTTCTAATGTTTCTAAAATGTTAAAATACTTCTAAGACAATGTGTGATTATATAGTGTAATTAATCTTTTAAAACTGAGCTTCCAGAATTTTAAAATACAAATGAATATTCTCTCCTTCAAAATTACATATGTATTTAAAAGCTGCCACTTCTCAAAGAACTTTTTGAAACATTTTTTTTTGGAACTGCTTTGCAATTGTATTCCATTTTCTTTTAAAAACTCTTCAAAATCAAGGGCCTCTTCTAGGTTGTATGCAGTATGCAGCCCCCAAGAAATCTGTCCCACTCAAAAACTAGAAAACACTGGATAAAATACAAAAATCATACTTTTAAGGACACTGGAGGACTGTGGAATCATCAAGCTCTTTATTAACTATAATTCTTAGGAAGAAAGAACCCTTTCTAGATAAGCTGAGATTACTGGTAATTTTCTTCCTGGGGTATATTGATTCTGGGTACAGATTGAGATTCATCATTGGCACAAGCAGGAGGACTTCACTGGGAGAAAGAAACTCTTGAGGACTTTCTGCAGGACTAGGTATGAAAGAAAATGAAATCGTTGGCAGCCTTGACAAACATGAGGGCAGATGTAGAGATACTAGCATTTAGAGGAGCTCTAAATGCATGGCTCATTTTTACCATGAGATATTGGCCGAGTCTTGTAGTGCAGGAGACTTGGGATAGACTAGAAACGCAGAATGTTAGCAGGCGAAGTCCTGCTAGAGGGAGAGACATGTTACTTTCATACCACAGGTCTCCTCAAGTCATTTGCCAGATTTTAAATTTTGTAGAGCAGGAGATTAAAGACCTGAGTTTACAACCTCCAAGAGAAACAACATTTAAGGCTAGAGAGTTAAGTGCTACCAGAGAATAAGGCTGAACTGGAAAGGCAAAGTGAAATATCCCATATTCCTGCAATGTTTAGGAAAGACCTATTAGAGGGAGACCTACCTAGTATATCAAACATGACTGGTTTTCCATTCAAGATAAATGTCAGATTTTGATACTGTATAGGGTAAGAAGTTAACTGCTGAGGAGATGGAGAACTTTCATATTTTCTATCTGAATATAGAGAGACACACTCAAGGAACTGGGAAAACCAAACCAGTTAGTTGTGAACTTAAAATTGCAACTAGGTCTCAATCCATTTTTTTTTTTTTTCAAGACAGAGTCTCGCTCTGTCGCCCAGTCTGGAGTGCAGTGGCACAGTCTTGGCTCACTACAAGCTCCACCTCCCAGGTTCACACCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGACTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACCCCCAGCGGGTCCCAATCCATTTTTAGTTGCTAATTGGATTGAGGAGATCAGACCCCAACAATGGAAAAGGCAGACTCTCTAGAGGAAAATACTATCAATCATCTTAAGTCTCTTTTGTTCTTGTATACACAGTTGGCATACAGTCAAACGTTATATGAAATGCAGAGAAACTGGAAGATTACTGATAATCAAGGGAACAAATAGGTAATAGGAGCAAACTCAGATGATCCACATGTTGCAGTTAGTAGTCAAGGATTTTAACATAAGTATTATAAATGTCTTGAAAAAAAGAAAAATGAACAGATAGAAAATTTTGACAGAGAATTGGAGTCTATAATTAAAAGGAATCAAATAGATATTCTAGAACTGAAAAATATATTTGAAATTAACATTGGATGGGCTTAACAGCAGGCTGAACACTGAATTAGTGAACTAGTGAGAAGACAGAATTAGTGAACTTGAAAAAAGATCAGTAGAAAATATTCAAACTGAAGCACAGAGAAAAAAATGGAAAAAACAAAAAAGACAAAACAATGGCTTCTAGAAGAAAACATAGGTAATAGCTTCTTGTCCTGGGAGTAGGCAAAGATGTCTTAAACAGAATGCCAAAGCACCATATATAGAAAGAAATTTGATAGACCTCATTAAAACTAAGAACTCTTGTTCATCAAAAGACTCGAGTGTGCTTCTAGAAGAAAACATAGGATAATCTTATCTATGTGGCCTTGGGTGGGCAAAATTTCTTAGGACACACAAAAGACTAAACATAAAAATGTATAAGATAAACTTCATCAAAATTAAAAACCTGTGCTTTTCAGAAGACTTCATTAAGAAAATGAAAAAGTAAGCCATAGAGGAGAAAATATTTGCAATACATATATCTGACCAAAGGCTCAGTTCAGAATATATTAAGTAATTCCTTCAGAATATATAAATCCCACAAACCAGTAACAAAAAGACAATCCAGTTTTTAAAATGTGACCCAGGGACTTGAAAAGACAATTCAAAAAGAAAGATAAATGGCAGATAAGTCCATGAAAAGGGATTCAGCATCATTTGGCATCAGGGAAATGCAAAGACTATTTCACTCCTACTCAAATGACTGATGTTTAAAAGACTGATCACACCAAATGTGGAGCATTGGAATGCTCAGGCATTGCTGAGAGAAGTATTAAAAACCATTTTGGCAGTTTCCTTTAAAATTAAACCCTATGACTCAGTGTTTGCACTCCTAGAAATGTACTCAAGAGAAGTGAGGGCAAGTGTCCACTAAACGGTACAAGAATGTTCATAGTGACATTCTAAATAATAGCCTGCAGACTGGTAACAGCCCAGATGCCCCTTTAAGAGGAGAAAGGATAGATAAATTGGGCTGTATTTATACAGTGGACTGCTACATACTATACAACATTTAAAAACAATGAACTGATAAGGCAACAGCATGGACAGATTTCACAGATACTATGTTGAACAAAAAAAGTGAGACACAAAATACTTATGTACTGTGTGATTCCATTTATATGAAGGTCAAGAGCATGCCAAACTCTTCTGATAAAGAAGCCAGAATAGTGGTTACCTCTAGGAAATGAAGATTGGTAAAAGGAGCTTGAGGGAACCCTCTGGGGTGCTAGAAATGTATTTTCACCTAGATAGTGATTACATGGGTGTGAAAATTCACTGGATATTTAGGATTAGTGTATTTTACATATGTGTGTTGTGCCTCAATAAAACAGGAAAAAAATTACTTGAGGTCAGTTTTTATTGTGGAATAGCCATAAACTGTTCACAGCAAACTAGTAAATAATGTAGGTCATATTGGATGGTATCATCTTAAGGCAAAGTAACTGGATGTGACTGTAAATTTACACAGATTTTGTTGATGAGGTTCATAACTCAAAGCACTTACAAAAGTAATTTAACACATCATTGGAGTAAGTTAGTAGCTTTCCAAGGTGACTACTTTGGGAATCTTTTTAAAAATTGTTTGACCTTAAATCTTATTTACCTTTATGCTTATAGCTATCAATAGATTTCTAACAATGTGTACAGAAATTTTTAAAAATAGAACTTTATTACAAGTTGAGTATATTCACTATTTTATTAAATTAGGAAGTGTGGACAAAAAAAATCAAAATCAACTATTTTTTTTTAAATTTAAATCCCATCACCAGAGGTAAAAGTAACCTTTGATAGTATATATATATATTCTTTTCTCTATACATTTATGCAAACTTGCATTTGATGACATCATATTTTGCAGGTTTTTTTTTTCTGTGTAATTTATTGTCATCTTACGTCAGATTATGTATTTTACAGTTGCAT	A	G112754889A	APC	NM_000038.6(APC):c.-2_136-2903del	coding	Pathogenic
5	112766336	AAC	A	C112766338A	APC	NM_000038.6(APC):c.148_149del:p.Gln50fs	coding	Pathogenic
5	112766338	C	CTT	A112766339T	APC	NM_000038.6(APC):c.148_149insTT:p.Gln50fs	coding	Pathogenic
5	112766383	CA	C	A112766384G	APC	NM_000038.6(APC):c.194del:p.Gln65fs	coding	Pathogenic
5	112766385	GA	G	A112766386T	APC	NM_000038.6(APC):c.196del:p.Ile66fs	coding	Pathogenic
5	112767199	A	AGATAGCAGTAATTTCCCTGGAGTAAAACTGCG	T112767233A	APC	NM_000038.6(APC):c.233_264dup:p.Ser89delinsIleAlaValIleSerLeuGluTer	coding	Pathogenic
5	112767221	GT	G	T112767222A	APC	NM_000038.6(APC):c.254del:p.Val85fs	coding	Pathogenic
5	112767234	C	CAAAAATGTCCCTCCTGGAGGAAATTGGACACCATCATTCTCAGTAAACTATCGCACGAACAAAAAACCAAACACCGCATCGTCTCAGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	G112767249T	APC	NM_000038.6(APC):c.280_281insTGGAGGAAATTGGACACCATCATTCTCAGTAAACTATCGCACGAACAAAAAACCAAACACCGCATCGTCTCAGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGTCCCTCC:p.Arg94delinsLeuGluGluIleGlyHisHisHisSerGlnTer	coding	Pathogenic
5	112767254	T	TA	T112767256A	APC	NM_000038.6(APC):c.287dup:p.Tyr96Ter	coding	Pathogenic
5	112767261	G	GCCTT	G112767264T	APC	NM_000038.6(APC):c.295_296insTTCC:p.Arg99fs	coding	Pathogenic
5	112767275	G	GTC	A112767277C	APC	NM_000038.6(APC):c.308_309insCT:p.Ser104fs	coding	Pathogenic
5	112767281	AG	A	G112767282C	APC	NM_000038.6(APC):c.314del:p.Ser105fs	coding	Pathogenic
5	112767299	AG	A	G112767300T	APC	NM_000038.6(APC):c.332del:p.Ser111fs	coding	Pathogenic
5	112767344	GGAAGCAGAGAAAGTACTGGATATTTA	G	C112767349A	APC	NM_000038.6(APC):c.381_406del:p.Ser127fs	coding	Pathogenic
5	112767353	GA	G	A112767356G	APC	NM_000038.6(APC):c.388del:p.Ser130fs	coding	Pathogenic/Likely_pathogenic
5	112767363	GAT	G	A112767366T	APC	NM_000038.6(APC):c.398_399del:p.Tyr133fs	coding	Pathogenic
5	112767383	A	AC	A112767384C	APC	NM_000038.6(APC):c.415_416insC:p.Lys139fs	coding	Pathogenic
5	112775605	C	CT	A112775613T	APC	NM_000038.6(APC):c.423-17dup	noncoding	Benign
5	112775625	ATAGGTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAATGTAAGTAACTTGGCAGTACAACTTATTTGAAACTTTAATAACTTGATATTTTAAAGTACCTAGGTAATCCATTAAAATTCAGGATAACTGAATTTATAGTTATTTGTAAATTGCAATATGTTTTACCCAACTTTAGGCCTGAATATATAATAGTTAATGAATTTTTGTTGGTAAAGATGATAAAACTTTATTGTGCTC	A	T112775626A	APC	NM_000038.6(APC):c.423-3_531+198del	noncoding	Pathogenic
5	112775645	G	GA	T112775647A	APC	NM_000038.6(APC):c.440dup:p.Asp147fs	coding	Pathogenic
5	112775647	TC	T	C112775648T	APC	NM_000038.6(APC):c.442del:p.Asp149fs	coding	Pathogenic
5	112775664	A	AG	A112775667G	APC	NM_000038.6(APC):c.460dup:p.Glu154fs	coding	Pathogenic
5	112775681	TACGCTCAACTTCA	T	A112775682G	APC	NM_000038.6(APC):c.476_488del:p.Tyr158_Tyr159insTer	coding	Pathogenic
5	112775703	CTAAAA	C	T112775704G	APC	NM_000038.6(APC):c.498_502del:p.Lys167fs	coding	Pathogenic
5	112775708	AG	A	G112775709A	APC	NM_000038.6(APC):c.503del:p.Arg168fs	coding	Pathogenic/Likely_pathogenic
5	112775720	CT	C	T112775722C	APC	NM_000038.6(APC):c.516del:p.Pro173fs	coding	Pathogenic
5	112779667	A	AT	G112779680T	APC	NM_000038.6(APC):c.532-1111dup	noncoding	Benign
5	112780793	TC	T	C112780795T	APC	NM_000038.6(APC):c.537del:p.Leu180fs	coding	Pathogenic
5	112780813	CA	C	A112780814G	APC	NM_000038.6(APC):c.556del:p.Arg186fs	coding	Pathogenic
5	112780861	AG	A	G112780862A	APC	NM_000038.6(APC):c.604del:p.Glu202fs	coding	Pathogenic
5	112780870	AGG	A	G112780871T	APC	NM_000038.6(APC):c.613_614del:p.Gly205fs	coding	Pathogenic
5	112792473	GA	G	A112792477G	APC	NM_000038.6(APC):c.677del:p.Lys226fs	coding	Pathogenic/Likely_pathogenic
5	112792495	GAC	G	C112792497G	APC	NM_000038.6(APC):c.697_698del:p.Gln233fs	coding	Pathogenic
5	112801300	GA	G	A112801303C	APC	NM_000038.6(APC):c.754del:p.Thr252fs	coding	Pathogenic
5	112801305	C	CG	C112801308G	APC	NM_000038.6(APC):c.758dup:p.Ser254fs	coding	Pathogenic
5	112801313	A	ATG	A112801316T	APC	NM_000038.6(APC):c.765_766dup:p.Asp256fs	coding	Pathogenic
5	112801315	G	GA	T112801317A	APC	NM_000038.6(APC):c.767dup:p.Asp256fs	coding	Pathogenic
5	112801382	A	AT	G112801383T	APC	NM_000038.6(APC):c.833_834insT:p.Gln278fs	coding	Pathogenic
5	112801638	G	GT	A112801647T	APC	NM_000038.6(APC):c.834+263dup	noncoding	Benign
5	112815497	TTCAACTA	T	T112815498C	APC	NM_000038.6(APC):c.838_844del:p.Ser280fs	coding	Pathogenic
5	112815498	TC	T	C112815499A	APC	NM_000038.6(APC):c.839del:p.Gly279_Ser280insTer	coding	Pathogenic
5	112815504	AC	A	C112815505A	APC	NM_000038.6(APC):c.845del:p.Thr282fs	coding	Pathogenic
5	112815552	CA	C	A112815553C	APC	NM_000038.6(APC):c.893del:p.His298fs	coding	Pathogenic
5	112815583	TG	T	G112815586A	APC	NM_000038.6(APC):c.926del:p.Gly309fs	coding	Pathogenic
5	112815591	AAGGT	CA	A112815591C	APC	NM_000038.6(APC):c.931_933+2delinsCA	coding	Pathogenic
5	112818833	TG	T	G112818834T	APC	NM_000038.6(APC):c.934-132del	noncoding	Benign
5	112818847	C	CG	T112818856G	APC	NM_000038.6(APC):c.934-111dup	noncoding	Benign
5	112818946	TA	T	A112818949C	APC	NM_000038.6(APC):c.934-17del	noncoding	Benign/Likely_benign
5	112818968	GGA	G	G112818969A	APC	NM_000038.6(APC):c.937_938del:p.Glu313fs	coding	Pathogenic
5	112819019	T	TA	T112819021A	APC	NM_000038.6(APC):c.988dup:p.Met330fs	coding	Pathogenic
5	112819040	T	TA	T112819042A	APC	NM_000038.6(APC):c.1009dup:p.Met337fs	coding	Pathogenic
5	112819077	CAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG	C	A112819078G	APC	NM_000038.6(APC):c.1046_1140del:p.Gln349fs	coding	Pathogenic
5	112819115	TG	T	G112819117C	APC	NM_000038.6(APC):c.1085del:p.Gly362fs	coding	Pathogenic
5	112819124	CA	C	A112819127G	APC	NM_000038.6(APC):c.1095del:p.Asp366fs	coding	Pathogenic
5	112819126	A	AC	A112819127C	APC	NM_000038.6(APC):c.1094_1095insC:p.Lys365fs	coding	Pathogenic
5	112819139	GT	G	T112819141G	APC	NM_000038.6(APC):c.1109del:p.Leu370fs	coding	Pathogenic
5	112819188	G	GCA	T112819192A	APC	NM_000038.6(APC):c.1158_1159dup:p.Leu387fs	coding	Pathogenic
5	112819210	C	CA	C112819212A	APC	NM_000038.6(APC):c.1179dup:p.Gln394fs	coding	Pathogenic
5	112819221	G	GAC	A112819225C	APC	NM_000038.6(APC):c.1191_1192dup:p.Lys398fs	coding	Pathogenic
5	112819270	TAC	T	A112819271G	APC	NM_000038.6(APC):c.1239_1240del:p.Ile413fs	coding	Pathogenic
5	112819284	GA	G	A112819287C	APC	NM_000038.6(APC):c.1255del:p.Thr419fs	coding	Pathogenic
5	112819290	TGTTGGGAGTGG	T	G112819291C	APC	NM_000038.6(APC):c.1259_1269del:p.Cys420fs	coding	Pathogenic
5	112821893	CAGTGCCAGCTCCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGAAACTTTCATTTGATGAAGAGCATAGACATGCAATGAATGAACTAGGTAAGACAAAAATGTTTTTTAATGACATAGACAATTACTGGTGGATTTTTAAATCATGGTAGAAATTCAGTATAGTAAATAAAGATTTTTAATCATTGATGAATTAGGATATAAGGCCACCAACTTCTGTTATCAGCTGCTTCCTCTGTGTAGCAAAAAATTGTACCCTGGTTTCCAGCATAGAAAGGATCCTGAATCACAGAAACTGCTACCCTGTCATAAGCTAACTTTTTCAAAATCGAAGCCGGAGATTGAAAAAAAATGACAAAATGGGTCACTCTTTGTCCCTTTTGCCAAAGTAGACTCTATATGTGCCAGCTGATGAGGATGGTAATTTGAATTATTTTGAAATGTGGAGCTGCTGTATTGTGATTGAACTCAGTCACTTTTGATGAGCATCAGAGGGAATTATTATTAAGATTGTCATTTATCTTCATGGTTATTGGTACTTTACAGGATTTTCATCATAAGCAGCCTGGTATCTTTGAAATTGGTTAATATAGAAAAGTATTATGCTTTAAGTCAGAAACATTTCATTATAACTTTGGAATGATTACTTCTTTAGGTATGTATTTTCACACACTAAGCCTTATATAACCAGCAGTGCACTCCATTTTTTATGTAATGGTTTTTCTTTGATTTCTAGGTTCATTTTGTACATGTGGTATTTATAAATTGCATCATGCTGAACCATCTCATGTGAACTGGATCTCTCTAGTCATGCCACAAGCAAGAACCATACGCTTAATTCCCATTTTAGTGTAATTGTGCCCTTGCTTTTTGTGCCGTTTATGTTACATTATGTTCCAGCCACCACTTTATATTCCTATCCCCTCATCGTTTCATTCGTCATTTATCTTAAAAGTGATGAAGTCATGAGACTCTTACACAGAGAACCTGAACAGCCAAAAGTATTGTCTCCTTCAGAGTCATCACTTTGGGAGGCTCTGCACCTTAAGATTTCAGGCCTGCCCTCTGGCCATGCTTTCCTTCCTAGTGGTGTAGCAATTGGCCTACCTGATTCTCTTTCCTCCCCCTGGTCTCCTGTGGATTCTCAGTTAATCTTATGAATTCTCCCCTCGTTAATACAATCTCAGCATTTGTGAACATTTTAAATTTTTTAAAATGCTAATCATAACAGGAAGGGGATAAAAAATAATGAATAAACAGGAAAACATTCAGTTTTAAGATACCTCAAAAGTTATTCTGTAAATGTTCCTGTATTCCAATGGATTGTAGACTAGGACTGAGACATTAATCATCTGGATTTCAAAATAAAACCTAGACTCAGTATTTGTTCCTCTTCCTTCTTCAGGTAGGAAGGCTACCCGGGGCATTTCATCACAGGAGCTAGGGCAGGGGCTTTCAGGTGAGGAGCAGGATGGGGCCTCTGGGGGTGTGACTGCTGGGGACATAGCCACAGGGGATTACCTTCTTCTCACTCCTCACCTCCAGATTTGCACTGGGGCAAAAGGAGGATTAGGGTGTGTGGATTGCGGGGAGATAATAGTACAAGACAGCACAAGGTTTTGGCAGTAAGGGATAAGGAGAAAAGAAATCCCAAATAGGTAAAGGGGAATTCCTTAGTTCAGTCAGCTGGGATGGTCATTTGTACATATATGAAGATTCTACAGCTATCAGTCATTTAAGTTTGCACTTATTAGTATTAGAAGTTTTAGAATATAATTTCCATGATATATGTTTATTGATTCCCTAATCTACCCCAGAAACTGTGCTAGGCACTAGATTTTTATAATGATTAAGACCTGGTCCTGGCTTTCAGGGAACTCACAGTTTATTTGCATTAGTGTTTCACAAAATACCTAAATCATAATGATCACCCAGAGGCACTCGTCAAACTGGATTTTCTGGCACTGTAGCAAACAGAATCTCCAGGGGAAGGGCCTAGGAATCAATGTGATAAGTGGCCTGGCTGATTCTTATGTTCGGGAAATTTTGTGAAACACCAGTAGAATATTCTTGTTGAGCCTGTGATATTTATTTTAGAACAAGGCATTTCATGCTAATGGTGACTATCTAAACCAAATAAAACAAAAGCAATATGCTTTTTAAAATTATCAGTCTTTCTTTTGTTCATAAGAGTCTAAATTAAGGATTCTGTTGAATGTCACCTGAGTCTGTTGGTGCTCTACTATCGGTAGTTTTACCCTATTGGGCAATAGTCCGGTCTATTTAGACCACTGTTTTCTAACAGGCACCAAGAAAATTGTAGAAGGACATGTTCATCATCTTTGCATTACCATGAAACATCCTGATTTTTCTTAGAGCAACCAGTTTTTAATTGTATCAATCCAGTCATGAATTTGCATATTTTAGCAAATCCATTTATAGGTTTAACCTATGAATTCTATTCTGTGCCTCAAAATTCTCTGAAATCTTTTCATTTGCCTGAAATCAAAAAGCACTTCCTCTTTTATCTGATAGTCTAAATTTTTTTGAATGTTCTTTTTTTATTAGCCATGTTCTTCCTGAATCTGTTGATATCTGCCACATTCTTATTTAATCTTTATTTTCAGTATCAAATCCTAAGATTTTTAGTTTTTCCATACAAGAGTACTCAACTCTTTGATCATGTAGTGCCTTCTTGGCATCTTCTTTAGGTGCATTTTATCTTTCTTAAGAAAGTATCCCAGTTATTGTCACACCAGGCAAGATTTTATACAGACAAAAGGCATAGTTTGTTTTGTTTTGGTATTGATCCTCTGCTTTAAAATACTCGACATCTTGGGGATCTCATTAGTATACCAGGCCAAGTCTTAAGGTCTTCCCTGTCAATTTCATGGGTCAAAATTCTCAGTTCTTTTACAGGCTCCTTTTCTTTTACCCAAGTGTAAAATGGTGGAATTCCTTGAAGCTCTGCCCTAGGCTCTTTTCCTTTCTCTCTATGCTTCTGTTATAGTTTTTGTTTTTGTTTTCAAATTTACAGCTCAATTTGAGTTTTTTCCCTGAGTTTTAGACACATTATTGAACTGACTATGTGACATCTTCCCTTAGGTGGTATTTTAGACACTTCTAACTCAACTGTCACAAACTGAATTCGTAATCTTTCCCATCCCTGAATCTCTTATCTTTTCCCAGTTTCCTTTTCTCAGAAATTCCAATCCAGTTGCTCAAATTTCAAAATCTTGGAAATCATTCACGATGCCATCCTTATCCCCTGCAAATAGCAACTGACTGCTTTAATTCTGCTACTTAAAAGTATCTTATGTCATCACTCTTCTCTTCATCCCCAGTCCAAGCCACCATCGTCTCTCCTGTTCTACAATACTTTGTCTTACTTCTCTTCCCATTTCCACTCATAGTCGATTTTGTTCACTGAAACCATAGTAATCTGTTTAGAGTGTGCATCTAATTATTCCTTTTTCTGCGTAAAATCTTTAATGTGGCACATAAAGTCTTATGTGATCCGGCATCTACCCATGTTTATAGCCTCATTTTGTGGCCCTCTCCTTGCTGTTAAATATTTCAGGCCCAGGGGCCCTTTCACATGCTGTTTCCTTTGCTTAGAACGCATCTTTCTTCTTCCTGCCCCACCCTTGTTAGATACGCATTCATCTGGCCAGACCTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGAATCACTTGAACCTAGGAGTTCGCAACCAGCTCGGGCAACATAGTGGCACCCTGTCTCTACCAAAATAAAAATAAAAAGAAAGATACACATTCATCCTTTACGTTTCAACTTAAACATTAAAAGATTATTTCCTCAGCCTTTTTCTTATGGAGCCTAATCCCAGGTCTAAGTTAAGTCCACCTATTATATCACCCTGTGGTTCTACATAGTTCATCTATCTTTGCTCCAATCTGTACGCTCTTCATAAAGACAGTGACTGATTTTTGTTCACTGTCTCTGTATTTTGCCACTGTTGCAGGTGAATGGAGGAAAATTTTCCTAAATATGATTTGGATTTTCTTTAACCAAATTAATTTTCACTTACCTACATTCAAACATGTCTGTCATTCCTGCTAGTAATAAAGTTTTGCATAAATCTTCCTACATTTAAATCCCTTGGCTTGGAATTCTTGACCCACGACAGAACTTTGTTTTACAAACTTGCAGATTCTTCTGCATATTGAACTTCCCAGATCACTTATTAAAAATATTAACGTACTGGCTGTCTTGCAGATGAATGACCTAATTAGACTTGTAGTATCCAAGAATTGCCTGTTTATATTCATCTTTTTCTTTCTGAGTCCCGTGATGATTAATATTTGATGAATTATATTTTGAATAGCCTCCACATGCATTTTTCTCTTTTGTTCACTTCCTCACCATTTTGCTTCACTTTTTTTTTAACTGCTTCCTTTGTGTCTTTCCCATTCCTTTACCTTTGTTTTCTCCTTGACTTCCTATTGTTGGCCATTGTGGGCATTGTTTAGCATTTTCAGTGGAAAGAATCAGGGGAAAGAAAATACTAAATCTTAGTATAGTTAATATTTGATATTATCAACGAGAAGTAAGAAATGTTTTGAAAAACACAAATCAGTAGTTTTATATAACTTAATAAATTGAACAGATGATCATTTTTTGTAAAAAAAAAAAAAAACAAAACTTTTTAGTTTTTCTTCATGCACAGTTTCATTTAAAGGCATCCGTATTCCTAAGGGTAATTATTTGCCAAAAAAAAAAAATTAAAGTAGTTAGGCCACAGTGTATGACAATAAAGAGTGTTTATAAAGCCCTAATAATAATAATAAGTTACCTTTTTCTGCTTATGTTCACGAAGAACTAGTGTTAGAAAATAGCCTTCTTCACTGTTGGCAAGGTGCAGTGTATATGCAGTAAATAGAAAATAATTATTTCGCTCAGCAAGATAAGGGGCTGGGGGTGGAGAAACTGGCATAAAATGGAATAATTGTCAGTTGTACTTTATAAATATATTATACAGAAGTTCTTTATAACAGTTTTTGTAGCTTATAATTCTAAAGGCAAATTTAAACCATATATTCTCATTGATTGAGTTTTTTTTTCCTAGTATTTAAGTTACCAACTTGGTACCAGTTTGTTTTATTTTAGATGATTGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGTAGCCAACAAGGTATGTTTTTATAACATGTATTTCTTAAGATAGCTCAGGTATGAGTTAATTTACTTTCATACAAATACATTTTACTGATTTTCTTTTTTTTCACTCTCCTCATTAAACAATGACTGATAAAAACCTGTGCTTCACATTCGCTTATCTTTACTCATTTGTTTGTCTTATGCCTAAACAAAGGCAAAGGTACATCTACAGATGGAACACAGTAGTGAATTTATGTAATTGCATTAAAAACACCATTCATAAGAATATACTTGTAGGGATCATTTCTGTGATCCATTACTAGAGAAGTTTAACTGTGTAGAATTAAAAAATAAAAGATAAAACACTTCCTAGGAATGGGATTAAAAATCTAAAAATTCTTAAGACCAAGGCAAGTGTTACACACACATTGATTCCATCCAAATAAGAGGCTTTACTCTAAAACCTGTTGCTTATCATTTCTCACCACTTATTCACTTTATTTCTCTAGTTTGACAAAGGAAGAACAGATAGCAAAGAATTAGGAGAATATTTGTCTTTTATTTAGGTAATCTTATTCTAGATTTTTTATGAGTGAAGTATCAGTTATGATTAAAACAAAATAATGAAAACTGAATTAGACATTTAGTAGCCAAAAATAAAGCTTGGCTTCAAGTTGTCTTTTTAATGATCCTCTATTCTGTATTTAATTTACAGGCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAAAGTGAAGACTTACAGCAGGTACTATTTAGAATTTCACCTGTTTTTCTTTTTTCTCTTTTTCTTTGAGGCAGGGTCTCACTCTGTCACCCAGGCTTAGAGGGCAGTTGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCAATCCTCCCACTTCAGCCTCTCGAGGCTGGGCCTACAGGTGCACACCACCATGCCAAACGAATTTTTGTATTTTTTATAGAGACGGGGTTTCACCACACCTGGGCTCAAGCAATCTGCCCACCTCAGCATCTCAAAATGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATATCCTGATTTAGATTGTTGCTCAGTATTTAGTATCTCATGTATAAAAGATAGTTCCATTAACACTAGAAAAAGAAAAATAATTATATTGTGGTTAGACTGTAGGAAATCTTTTTGGCACTGTAGTAGCATTTAGGAGGAATTTAAAAAAAAAAAAAAAAACAGGATCTCCCTCTCTTGCCCAGGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAACCTCAAGCTCCTGGGATCCTCCTGCTTCAGCCTCCCAAGTAGCTAGAACTACTGCAGGCGCATGCCACCATGCCCAGCTAATTTTTAAAAAGTTTTCATAGAGACAGGGTCTCACTGTGTTACCCAGAAGGTCTTGAACTCCTGGTCTCAGGAGATCCTCCTGCCTCAGCCTCCCAAAGTGATAGGATTACAGGCGTGAGTCACCACGGCTAGCCAGAATTTCTTTCTTAATAGATTTCTATTCTTACTGCTAGCATTAAAAACAAAAAAGCAACTAGTATGATTTTATGTATAAATTAATCTAAAATTGATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGGAATGTGCTTTAGAAGTTAAAAAGGTACCTTTGAAAACATTTAGTACTATAATATGAATTTCATGTTTGGCTTTTTTTTGCTGCCTTCTTTTAGCCATGAGATTTCCTAATTTCTTACCTGTGTATTATTCAGTACTATAATATGAATTTCATGTTTAGCTTTTTTTG	C	A112821894C	APC	NM_000038.6(APC):c.1313-2_1743+144del	noncoding	Pathogenic
5	112821897	GCCAGC	G	C112821898T	APC	NM_000038.6(APC):c.1315_1319del:p.Pro439fs	coding	Pathogenic
5	112821904	CCTGTTGAACA	C	C112821905T	APC	NM_000038.6(APC):c.1322_1331del:p.Pro441fs	coding	Pathogenic
5	112821933	GTGTGTTC	G	G112821935A	APC	NM_000038.6(APC):c.1352_1358del:p.Val450_Cys451insTer	coding	Pathogenic
5	112821949	CTT	C	T112821951C	APC	NM_000038.6(APC):c.1368_1369del:p.Ser457fs	coding	Pathogenic
5	112821966	GCATAGAC	ATGAATGA	G112821966A	APC	NM_000038.6(APC):c.1383_1390delinsATGAATGA:p.His462_His464delinsTer	coding	Pathogenic
5	112821974	A	AT	G112821976T	APC	NM_000038.6(APC):c.1392dup:p.Ala465fs	coding	Pathogenic
5	112821975	T	TG	C112821977G	APC	NM_000038.6(APC):c.1393dup:p.Ala465fs	coding	Pathogenic
5	112821984	T	TGA	A112821987G	APC	NM_000038.6(APC):c.1402_1403dup:p.Leu469fs	coding	Pathogenic
5	112822005	GT	G	T112822011A	APC	NM_000038.6(APC):c.1408+20del	noncoding	Benign/Likely_benign
5	112827105	TA	T	A112827106G	APC	NM_000038.6(APC):c.1409-2del	noncoding	Pathogenic
5	112827167	A	AAT	G112827170A	APC	NM_000038.6(APC):c.1469_1470dup:p.Asp491fs	coding	Pathogenic
5	112827170	GACCACTACAGTATT	G	C112827173A	APC	NM_000038.6(APC):c.1474_1487del:p.His492fs	coding	Pathogenic
5	112827184	TAC	T	A112827187T	APC	NM_000038.6(APC):c.1488_1489del:p.Leu497fs	coding	Pathogenic
5	112827184	T	TA	C112827186A	APC	NM_000038.6(APC):c.1486dup:p.Thr496fs	coding	Pathogenic
5	112827188	C	CT	A112827190T	APC	NM_000038.6(APC):c.1490dup:p.Arg498fs	coding	Pathogenic
5	112827194	C	CTA	G112827195T	APC	NM_000038.6(APC):c.1495_1496insTA:p.Arg499fs	coding	Pathogenic
5	112827196	A	AT	A112827198T	APC	NM_000038.6(APC):c.1498dup:p.Tyr500fs	coding	Pathogenic
5	112827198	AT	A	T112827199G	APC	NM_000038.6(APC):c.1500del:p.Arg499_Tyr500insTer	coding	Pathogenic
5	112827222	T	TG	A112827224G	APC	NM_000038.6(APC):c.1524dup:p.Thr509fs	coding	Pathogenic
5	112827225	C	CT	G112827230T	APC	NM_000038.6(APC):c.1530dup:p.Gly511fs	coding	Pathogenic/Likely_pathogenic
5	112827226	T	TTTGAGATGTTGGC	T112827229G	APC	NM_000038.6(APC):c.1529_1530insGAGATGTTGGCTT:p.Phe510fs	coding	Pathogenic
5	112827926	C	CAGGCTACGCTATGCTCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACT	A112827980G	APC	NM_000038.6(APC):c.1549-1_1599dup	noncoding	Pathogenic
5	112827933	CGCTAT	C	A112827937C	APC	NM_000038.6(APC):c.1557_1561del:p.Cys520fs	coding	Pathogenic
5	112827949	A	AGGCT	C112827955G	APC	NM_000038.6(APC):c.1571_1574dup:p.Cys525fs	coding	Pathogenic
5	112827984	C	CT	G112827986T	APC	NM_000038.6(APC):c.1605dup:p.Glu536Ter	coding	Pathogenic
5	112827990	GTGAAGACT	G	G112827992A	APC	NM_000038.6(APC):c.1612_1619del:p.Glu538fs	coding	Pathogenic
5	112828457	TA	T	A112828474C	APC	NM_000038.6(APC):c.1627-382del	noncoding	Benign
5	112828865	AGT	A	G112828868T	APC	NM_000038.6(APC):c.1639_1640del:p.Val547fs	coding	Pathogenic
5	112828866	GT	G	T112828867G	APC	NM_000038.6(APC):c.1638del:p.Ser546fs	coding	Pathogenic
5	112828951	ATG	A	T112828954C	APC	NM_000038.6(APC):c.1725_1726del:p.Ala576fs	coding	Pathogenic
5	112828970	AAG	A	A112828971G	APC	NM_000038.6(APC):c.1742_1743del:p.Lys581fs	coding	Pathogenic
5	112834948	TAGGAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGG	T	A112834949T	APC	NM_000038.6(APC):c.1744-2_1958+1del	noncoding	Pathogenic
5	112834966	A	AGCGGG	T112834970G	APC	NM_000038.6(APC):c.1762_1763insGGGCG:p.Val588fs	coding	Pathogenic
5	112834987	AAT	A	A112834988T	APC	NM_000038.6(APC):c.1781_1782del:p.Asn594fs	coding	Pathogenic
5	112835004	CA	C	A112835005C	APC	NM_000038.6(APC):c.1798del:p.Thr600fs	coding	Pathogenic
5	112835014	A	AAAGCTGAT	T112835024A	APC	NM_000038.6(APC):c.1809_1816dup:p.Ile606fs	coding	Pathogenic
5	112835031	TG	T	G112835032T	APC	NM_000038.6(APC):c.1825del:p.Ala608_Val609insTer	coding	Pathogenic
5	112835032	GT	G	T112835033A	APC	NM_000038.6(APC):c.1826del:p.Val609fs	coding	Pathogenic
5	112835041	G	GC	A112835043C	APC	NM_000038.6(APC):c.1835dup:p.Leu613fs	coding	Pathogenic
5	112835044	CT	C	T112835046G	APC	NM_000038.6(APC):c.1839del:p.Ala614fs	coding	Pathogenic
5	112835071	T	TA	C112835073A	APC	NM_000038.6(APC):c.1865dup:p.Tyr622Ter	coding	Pathogenic
5	112835084	C	CA	C112835088A	APC	NM_000038.6(APC):c.1880dup:p.Asn627fs	coding	Pathogenic
5	112835093	TAGCCATTA	T	A112835094T	APC	NM_000038.6(APC):c.1887_1894del:p.Leu629fs	coding	Pathogenic
5	112835103	T	TGAAAGTGGAGGTGGAGGAGCGGACGGGGCCCCCGGGGGCCGCGGGGGAGGCGCACCCCCCCGCCATTGCCACCCCCACTGCCGCGATTGCAACCACAGCCCCGCGGCCCCCCCCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	G112835118A	APC	NM_000038.6(APC):c.1910_1911insAGGAGCGGACGGGGCCCCCGGGGGCCGCGGGGGAGGCGCACCCCCCCGCCATTGCCACCCCCACTGCCGCGATTGCAACCACAGCCCCGCGGCCCCCCCCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTGG:p.Ile638fs	coding	Pathogenic
5	112835165	G	GGT	A112835168G	APC	NM_000038.6(APC):c.1958+1_1958+2dup	coding	Pathogenic/Likely_pathogenic
5	112837409	T	TAGAA	C112837414A	APC	NM_000038.6(APC):c.1959-143_1959-140dup	noncoding	Benign
5	112837590	TTA	T	T112837591C	APC	NM_000038.6(APC):c.1997_1998del:p.Leu666fs	coding	Pathogenic
5	112837591	TAC	A	T112837591A	APC	NM_000038.6(APC):c.1997_1999delinsA:p.Leu666_Gln667delinsTer	coding	Pathogenic
5	112837600	TA	T	A112837604T	APC	NM_000038.6(APC):c.2010del:p.Lys670fs	coding	Pathogenic
5	112837604	AT	A	T112837605C	APC	NM_000038.6(APC):c.2011del:p.Ser671fs	coding	Pathogenic
5	112837608	CAT	C	T112837610G	APC	NM_000038.6(APC):c.2016_2017del:p.His672fs	coding	Pathogenic
5	112837612	G	GT	G112837616T	APC	NM_000038.6(APC):c.2021dup:p.Leu674fs	coding	Pathogenic
5	112837615	TGACAATAGTCA	T	A112837617T	APC	NM_000038.6(APC):c.2023_2033del:p.Leu674_Thr675insTer	coding	Pathogenic
5	112837619	AAT	A	T112837621G	APC	NM_000038.6(APC):c.2027_2028del:p.Ile676fs	coding	Pathogenic
5	112837644	TTG	T	T112837647G	APC	NM_000038.6(APC):c.2053_2054del:p.Trp685fs	coding	Pathogenic/Likely_pathogenic
5	112837651	ATC	A	T112837656A	APC	NM_000038.6(APC):c.2062_2063del:p.Ala689fs	coding	Pathogenic
5	112837683	GCATT	AATGCTGGTCCCATAATG	G112837683A	APC	NM_000038.6(APC):c.2089_2093delinsAATGCTGGTCCCATAATG:p.Ala697fs	coding	Pathogenic
5	112837686	T	TTA	G112837690A	APC	NM_000038.6(APC):c.2094_2095dup:p.Trp699fs	coding	Pathogenic
5	112837702	C	CA	G112837704A	APC	NM_000038.6(APC):c.2109dup:p.Val704fs	coding	Pathogenic
5	112837709	C	CA	T112837711A	APC	NM_000038.6(APC):c.2116dup:p.Met706fs	coding	Pathogenic
5	112837722	CTCAT	C	T112837730A	APC	NM_000038.6(APC):c.2136_2139del:p.His712fs	coding	Pathogenic
5	112837747	T	TTG	C112837750T	APC	NM_000038.6(APC):c.2154_2155dup:p.Ala719fs	coding	Pathogenic
5	112837753	TG	T	G112837756A	APC	NM_000038.6(APC):c.2162del:p.Gly721fs	coding	Pathogenic
5	112837756	G	GAATCAAGC	G112837759T	APC	NM_000038.6(APC):c.2164_2165insTCAAGCAA:p.Ser722fs	coding	Pathogenic
5	112837845	TC	T	C112837846T	APC	NM_000038.6(APC):c.2252del:p.Ser751fs	coding	Pathogenic
5	112837848	CTT	C	T112837849C	APC	NM_000038.6(APC):c.2255_2256del:p.Leu752fs	coding	Pathogenic
5	112837883	A	AT	A112837886T	APC	NM_000038.6(APC):c.2291dup:p.Leu764fs	coding	Pathogenic
5	112837897	AC	A	C112837898T	APC	NM_000038.6(APC):c.2304del:p.Leu769fs	coding	Pathogenic
5	112837900	T	TAA	T112837902A	APC	NM_000038.6(APC):c.2307_2308insAA:p.Ser770fs	coding	Pathogenic
5	112837901	AT	A	T112837902C	APC	NM_000038.6(APC):c.2308del:p.Ser770fs	coding	Pathogenic
5	112837909	CT	C	T112837913G	APC	NM_000038.6(APC):c.2319del:p.Phe773fs	coding	Pathogenic
5	112837936	CC	T	C112837936T	APC	NM_000038.6(APC):c.2342_2343delinsT:p.Pro781fs	coding	Pathogenic
5	112838037	AATACTGGCAAC	A	A112838040G	APC	NM_000038.6(APC):c.2446_2456del:p.Thr816fs	coding	Pathogenic
5	112838041	C	CT	G112838043T	APC	NM_000038.6(APC):c.2448dup:p.Gly817fs	coding	Pathogenic
5	112838065	CAT	C	A112838068T	APC	NM_000038.6(APC):c.2474_2475del:p.Tyr825fs	coding	Pathogenic
5	112838080	CA	C	A112838081G	APC	NM_000038.6(APC):c.2487del:p.Val830fs	coding	Pathogenic
5	112838086	T	TA	C112838088A	APC	NM_000038.6(APC):c.2493dup:p.Pro832fs	coding	Pathogenic
5	112838100	TCATC	T	C112838101A	APC	NM_000038.6(APC):c.2507_2510del:p.Ser835_Ser836insTer	coding	Pathogenic
5	112838101	CATCAAGA	C	A112838102G	APC	NM_000038.6(APC):c.2508_2514del:p.Ser837fs	coding	Pathogenic
5	112838103	TC	T	C112838104A	APC	NM_000038.6(APC):c.2510del:p.Ser836_Ser837insTer	coding	Pathogenic
5	112838133	G	GA	G112838139A	APC	NM_000038.6(APC):c.2544dup:p.Asp849fs	coding	Pathogenic
5	112838181	T	TA	C112838183A	APC	NM_000038.6(APC):c.2588dup:p.Tyr863Ter	coding	Pathogenic
5	112838182	ACCATCCAG	A	C112838184A	APC	NM_000038.6(APC):c.2590_2597del:p.His864fs	coding	Pathogenic
5	112838204	A	AG	A112838207G	APC	NM_000038.6(APC):c.2612dup:p.Thr872fs	coding	Pathogenic
5	112838253	AT	A	T112838255G	APC	NM_000038.6(APC):c.2661del:p.Ile887fs	coding	Pathogenic
5	112838258	CAA	C	A112838260G	APC	NM_000038.6(APC):c.2666_2667del:p.Lys889fs	coding	Pathogenic
5	112838350	GA	G	A112838353T	APC	NM_000038.6(APC):c.2759del:p.Asn920fs	coding	Pathogenic
5	112838354	T	TG	C112838356G	APC	NM_000038.6(APC):c.2761dup:p.Ala921fs	coding	Pathogenic
5	112838368	G	GCT	G112838373C	APC	NM_000038.6(APC):c.2777_2778dup:p.Ala927fs	coding	Pathogenic
5	112838383	C	CGT	A112838384G	APC	NM_000038.6(APC):c.2789_2790insGT:p.His931fs	coding	Pathogenic
5	112838390	AAACACTT	A	A112838392C	APC	NM_000038.6(APC):c.2798_2804del:p.Asn933fs	coding	Pathogenic
5	112838399	CA	C	A112838401T	APC	NM_000038.6(APC):c.2807del:p.Asn936fs	coding	Pathogenic
5	112838434	GTTCTA	G	T112838436G	APC	NM_000038.6(APC):c.2842_2846del:p.Ser948fs	coding	Pathogenic
5	112838436	TC	T	C112838437T	APC	NM_000038.6(APC):c.2843del:p.Ser948fs	coding	Pathogenic
5	112838457	G	GA	T112838460A	APC	NM_000038.6(APC):c.2865dup:p.Tyr956fs	coding	Pathogenic
5	112838479	ATAGTT	A	G112838482A	APC	NM_000038.6(APC):c.2888_2892del:p.Ser963fs	coding	Pathogenic
5	112838484	TTAAA	T	A112838487G	APC	NM_000038.6(APC):c.2893_2896del:p.Asn965fs	coding	Pathogenic
5	112838519	AAG	A	A112838522G	APC	NM_000038.6(APC):c.2928_2929del:p.Gly977fs	coding	Pathogenic
5	112838569	G	GT	A112838571T	APC	NM_000038.6(APC):c.2976dup:p.Lys993Ter	coding	Pathogenic
5	112838617	TAC	T	C112838619T	APC	NM_000038.6(APC):c.3025_3026del:p.Ile1008_His1009insTer	coding	Pathogenic
5	112838619	CA	C	A112838620T	APC	NM_000038.6(APC):c.3026del:p.His1009fs	coding	Pathogenic
5	112838671	AT	A	T112838673A	APC	NM_000038.6(APC):c.3079del:p.Tyr1027fs	coding	Pathogenic
5	112838682	AAATA	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNCTCTGTATTTCCTGAATTTGAATATTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGTGTT	A112838682T	APC	NM_000038.6(APC):c.3088_3092delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNCTCTGTATTTCCTGAATTTGAATATTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGTGTT:p.Lys1030_Tyr1031delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaSerValPheProGluPheGluTyrTrpProAlaLeuLeuAspTrpGlySerSerProGlyTer	coding	Pathogenic
5	112838689	CA	C	A112838690G	APC	NM_000038.6(APC):c.3096del:p.Asp1033fs	coding	Pathogenic
5	112838732	TG	T	G112838733A	APC	NM_000038.6(APC):c.3139del:p.Glu1047fs	coding	Pathogenic
5	112838752	AAC	A	C112838756T	APC	NM_000038.6(APC):c.3162_3163del:p.Ile1055fs	coding	Pathogenic
5	112838756	CA	C	A112838757T	APC	NM_000038.6(APC):c.3163del:p.His1054_Ile1055insTer	coding	Pathogenic
5	112838766	GATGAA	G	G112838769A	APC	NM_000038.6(APC):c.3175_3179del:p.Glu1059fs	coding	Pathogenic
5	112838776	A	AACAAAGTGAGCAAAGAC	A112838795C	APC	NM_000038.6(APC):c.3184_3200dup:p.Gln1067fs	coding	Pathogenic
5	112838790	A	AG	A112838792G	APC	NM_000038.6(APC):c.3197dup:p.Gln1067fs	coding	Pathogenic
5	112838805	CA	C	A112838808G	APC	NM_000038.6(APC):c.3214del:p.Ser1072fs	coding	Pathogenic
5	112838815	CT	C	T112838817A	APC	NM_000038.6(APC):c.3223del:p.Tyr1075fs	coding	Pathogenic
5	112838817	T	TA	T112838819A	APC	NM_000038.6(APC):c.3224dup:p.Tyr1075Ter	coding	Pathogenic
5	112838842	A	AT	G112838844T	APC	NM_000038.6(APC):c.3249dup:p.Asp1084Ter	coding	Pathogenic
5	112838845	A	AT	A112838847T	APC	NM_000038.6(APC):c.3252dup:p.Lys1085Ter	coding	Pathogenic
5	112838853	C	CTCAA	G112838858T	APC	NM_000038.6(APC):c.3260_3263dup:p.Lys1088fs	coding	Pathogenic
5	112838860	TC	T	C112838862A	APC	NM_000038.6(APC):c.3268del:p.Gln1090fs	coding	Pathogenic
5	112838876	AC	A	C112838877A	APC	NM_000038.6(APC):c.3283del:p.Gln1095fs	coding	Pathogenic
5	112838889	G	GT	C112838893T	APC	NM_000038.6(APC):c.3298dup:p.Ser1100fs	coding	Pathogenic
5	112838897	AT	A	T112838898A	APC	NM_000038.6(APC):c.3304del:p.Tyr1102fs	coding	Pathogenic
5	112838907	CG	C	G112838911A	APC	NM_000038.6(APC):c.3317del:p.Gly1106fs	coding	Pathogenic/Likely_pathogenic
5	112838918	TG	T	G112838920T	APC	NM_000038.6(APC):c.3326del:p.Gly1109fs	coding	Pathogenic
5	112838929	C	CA	T112838933A	APC	NM_000038.6(APC):c.3338dup:p.Asn1113fs	coding	Pathogenic
5	112839004	AT	A	T112839005G	APC	NM_000038.6(APC):c.3411del:p.Asp1137fs	coding	Pathogenic
5	112839006	GA	G	A112839007T	APC	NM_000038.6(APC):c.3413del:p.Asp1138fs	coding	Pathogenic
5	112839033	T	TA	C112839035A	APC	NM_000038.6(APC):c.3440dup:p.Tyr1147Ter	coding	Pathogenic
5	112839045	GA	G	A112839047C	APC	NM_000038.6(APC):c.3453del:p.Glu1151fs	coding	Pathogenic
5	112839048	CA	C	A112839049G	APC	NM_000038.6(APC):c.3455del:p.Gln1152fs	coding	Pathogenic
5	112839057	GAAGAA	G	A112839058G	APC	NM_000038.6(APC):c.3464_3468del:p.Glu1155fs	coding	Pathogenic
5	112839058	AAGAAG	A	A112839062G	APC	NM_000038.6(APC):c.3468_3472del:p.Glu1157fs	coding	Pathogenic
5	112839063	G	GA	G112839065A	APC	NM_000038.6(APC):c.3470dup:p.Arg1158fs	coding	Pathogenic
5	112839095	TGAAGA	T	G112839099A	APC	NM_000038.6(APC):c.3505_3509del:p.Glu1169fs	coding	Pathogenic
5	112839112	TG	T	G112839114A	APC	NM_000038.6(APC):c.3520del:p.Asp1174fs	coding	Pathogenic
5	112839116	T	TC	A112839118C	APC	NM_000038.6(APC):c.3523dup:p.Gln1175fs	coding	Pathogenic
5	112839122	TATTG	T	G112839126A	APC	NM_000038.6(APC):c.3532_3535del:p.Asp1178fs	coding	Pathogenic
5	112839170	ACAGT	A	G112839173T	APC	NM_000038.6(APC):c.3579_3582del:p.Gln1193fs	coding	Pathogenic
5	112839176	A	AT	C112839181T	APC	NM_000038.6(APC):c.3586dup:p.Ser1196fs	coding	Pathogenic
5	112839176	AT	A	T112839180C	APC	NM_000038.6(APC):c.3586del:p.Ser1196fs	coding	Pathogenic
5	112839183	T	TCTCAAAATGTTTCA	T112839184C	APC	NM_000038.6(APC):c.3589_3590insCTCAAAATGTTTCA:p.Phe1197fs	coding	Pathogenic
5	112839209	C	CA	G112839211A	APC	NM_000038.6(APC):c.3616dup:p.Ser1206fs	coding	Pathogenic
5	112839235	GC	G	C112839236A	APC	NM_000038.6(APC):c.3642del:p.Ser1214fs	coding	Pathogenic
5	112839246	AC	A	C112839247G	APC	NM_000038.6(APC):c.3653del:p.Thr1218fs	coding	Pathogenic
5	112839258	T	TC	A112839260C	APC	NM_000038.6(APC):c.3665dup:p.Ser1223fs	coding	Pathogenic
5	112839281	TC	T	C112839282A	APC	NM_000038.6(APC):c.3688del:p.Gln1230fs	coding	Pathogenic
5	112839286	T	TA	C112839287A	APC	NM_000038.6(APC):c.3692_3693insA:p.His1232fs	coding	Pathogenic
5	112839290	TC	T	C112839292A	APC	NM_000038.6(APC):c.3698del:p.Pro1233fs	coding	Pathogenic
5	112839307	GTAGA	G	T112839308A	APC	NM_000038.6(APC):c.3714_3717del:p.Ser1238fs	coding	Pathogenic
5	112839308	TAGAAGTGGTC	T	A112839311C	APC	NM_000038.6(APC):c.3717_3726del:p.Arg1239fs	coding	Pathogenic
5	112839311	AAGTGGTC	A	T112839314C	APC	NM_000038.6(APC):c.3720_3726del:p.Gly1241fs	coding	Pathogenic
5	112839318	C	CTCTACTTCTCAAAAGGCTCAAA	A112839319T	APC	NM_000038.6(APC):c.3724_3725insTCTACTTCTCAAAAGGCTCAAA:p.Gln1242fs	coding	Pathogenic
5	112839319	A	AGCCTCAAAAGT	G112839330T	APC	NM_000038.6(APC):c.3735_3736insTGCCTCAAAAG:p.Ala1246fs	coding	Pathogenic
5	112839339	T	TG	C112839341G	APC	NM_000038.6(APC):c.3746dup:p.Cys1249fs	coding	Pathogenic
5	112839340	GC	AA	G112839340A	APC	NM_000038.6(APC):c.3746_3747delinsAA:p.Cys1249Ter	coding	Pathogenic
5	112839345	GTT	G	T112839347C	APC	NM_000038.6(APC):c.3753_3754del:p.Ser1252fs	coding	Pathogenic
5	112839353	TATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAG	T	T112839356G	APC	NM_000038.6(APC):c.3762_3855del:p.Ile1254fs	coding	Pathogenic
5	112839376	CT	C	T112839378A	APC	NM_000038.6(APC):c.3784del:p.Tyr1262fs	coding	Pathogenic
5	112839397	CAA	C	A112839398T	APC	NM_000038.6(APC):c.3804_3805del:p.Ile1269fs	coding	Pathogenic
5	112839412	G	GA	T112839414A	APC	NM_000038.6(APC):c.3819dup:p.Cys1274fs	coding	Pathogenic
5	112839430	C	CT	G112839434T	APC	NM_000038.6(APC):c.3839dup:p.Leu1280fs	coding	Pathogenic
5	112839440	AG	A	G112839441C	APC	NM_000038.6(APC):c.3847del:p.Ala1283fs	coding	Pathogenic
5	112839469	CGACACAGGAAGCA	C	C112839472T	APC	NM_000038.6(APC):c.3878_3890del:p.Thr1293fs	coding	Pathogenic
5	112839473	AC	A	C112839474A	APC	NM_000038.6(APC):c.3880del:p.Gln1294fs	coding	Pathogenic
5	112839474	CAGGA	C	G112839477C	APC	NM_000038.6(APC):c.3883_3886del:p.Glu1295fs	coding	Pathogenic
5	112839484	AT	A	T112839486C	APC	NM_000038.6(APC):c.3892del:p.Ser1298fs	coding	Pathogenic
5	112839498	CT	C	T112839499G	APC	NM_000038.6(APC):c.3905del:p.Leu1302fs	coding	Pathogenic
5	112839510	GAAATA	G	T112839514G	APC	NM_000038.6(APC):c.3920_3924del:p.Ile1307fs	coding	Pathogenic
5	112839512	AAT	A	T112839514A	APC	NM_000038.6(APC):c.3920_3921del:p.Ile1307fs	coding	Pathogenic
5	112839517	AAG	A	G112839519A	APC	NM_000038.6(APC):c.3925_3926del:p.Glu1309fs	coding	Pathogenic
5	112839546	G	GATCC	T112839551A	APC	NM_000038.6(APC):c.3953_3956dup:p.Val1320fs	coding	Pathogenic
5	112839568	CA	C	A112839569G	APC	NM_000038.6(APC):c.3975del:p.Val1326fs	coding	Pathogenic
5	112839574	C	CA	C112839576A	APC	NM_000038.6(APC):c.3981dup:p.Gln1328fs	coding	Pathogenic
5	112839650	TGAATTTTCTTCAG	T	A112839653G	APC	NM_000038.6(APC):c.4059_4071del:p.Phe1354fs	coding	Pathogenic
5	112839650	TG	T	G112839651A	APC	NM_000038.6(APC):c.4057del:p.Glu1353fs	coding	Pathogenic
5	112839661	C	CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCA	A112839662T	APC	NM_000038.6(APC):c.4067_4068insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCA:p.Ser1356_Gly1357insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaCysTrpPheLysValCysPheIleArgAspTer	coding	Pathogenic
5	112839680	C	CA	G112839685A	APC	NM_000038.6(APC):c.4090dup:p.Ser1364fs	coding	Pathogenic
5	112839714	GA	G	A112839716C	APC	NM_000038.6(APC):c.4122del:p.Glu1374fs	coding	Pathogenic
5	112839719	C	CT	A112839721T	APC	NM_000038.6(APC):c.4126dup:p.Tyr1376fs	coding	Pathogenic
5	112839727	AG	A	G112839729A	APC	NM_000038.6(APC):c.4135del:p.Glu1379fs	coding	Pathogenic
5	112839738	CT	C	T112839739C	APC	NM_000038.6(APC):c.4145del:p.Leu1382fs	coding	Pathogenic
5	112839757	CTT	C	T112839758C	APC	NM_000038.6(APC):c.4164_4165del:p.Ser1389fs	coding	Pathogenic
5	112839777	AGTTTT	A	T112839779A	APC	NM_000038.6(APC):c.4185_4189del:p.Ser1395fs	coding	Pathogenic
5	112839782	TGA	T	A112839786T	APC	NM_000038.6(APC):c.4192_4193del:p.Arg1399fs	coding	Pathogenic
5	112839792	TC	T	C112839793G	APC	NM_000038.6(APC):c.4199del:p.Arg1399_Ser1400insTer	coding	Pathogenic
5	112839856	GT	G	T112839857G	APC	NM_000038.6(APC):c.4263del:p.Ser1421fs	coding	Pathogenic
5	112839860	TCTTC	T	T112839862A	APC	NM_000038.6(APC):c.4268_4271del:p.Leu1423fs	coding	Pathogenic
5	112839869	T	TA	G112839871A	APC	NM_000038.6(APC):c.4276dup:p.Ser1426fs	coding	Pathogenic
5	112839892	CA	C	A112839894G	APC	NM_000038.6(APC):c.4300del:p.Ser1434fs	coding	Pathogenic
5	112839908	AC	A	C112839910T	APC	NM_000038.6(APC):c.4316del:p.Pro1439fs	coding	Pathogenic
5	112839924	C	CA	C112839928A	APC	NM_000038.6(APC):c.4333dup:p.Thr1445fs	coding	Pathogenic
5	112839942	C	CGAGAAGTACCTAAAAATAAAGCACCTACT	C112839973A	APC	NM_000038.6(APC):c.4350_4378dup:p.Ala1460fs	coding	Pathogenic
5	112839954	AAAAAT	A	A112839958G	APC	NM_000038.6(APC):c.4364_4368del:p.Asn1455fs	coding	Pathogenic
5	112839968	T	TA	C112839970A	APC	NM_000038.6(APC):c.4375dup:p.Thr1459fs	coding	Pathogenic
5	112839974	TGAAAA	T	A112839977G	APC	NM_000038.6(APC):c.4383_4387del:p.Lys1462fs	coding	Pathogenic
5	112839987	AGT	A	T112839989G	APC	NM_000038.6(APC):c.4395_4396del:p.Ser1465fs	coding	Pathogenic
5	112840006	C	CAGTAAATG	C112840015A	APC	NM_000038.6(APC):c.4413_4420dup:p.Ala1474delinsGluTer	coding	Pathogenic
5	112840027	GGGTC	G	G112840028C	APC	NM_000038.6(APC):c.4434_4437del:p.Arg1478fs	coding	Pathogenic
5	112840040	TC	T	C112840042A	APC	NM_000038.6(APC):c.4448del:p.Pro1483fs	coding	Pathogenic
5	112840052	T	TA	C112840054A	APC	NM_000038.6(APC):c.4459dup:p.Thr1487fs	coding	Pathogenic
5	112840101	TCATC	T	T112840104G	APC	NM_000038.6(APC):c.4510_4513del:p.Ser1504fs	coding	Pathogenic
5	112840105	CCA	C	C112840106G	APC	NM_000038.6(APC):c.4512_4513del:p.Ser1505fs	coding	Pathogenic
5	112840127	C	CG	A112840129G	APC	NM_000038.6(APC):c.4534dup:p.Asp1512fs	coding	Pathogenic
5	112840159	T	TAAGAATAATGCCTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCNNNNNNNNNNAAAAAAAAAA	T112840177G	APC	NM_000038.6(APC):c.4582_4583insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCNNNNNNNNNNAAAAAAAAAAAAGAATAATGCCTCCAG:p.Val1528delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluAlaXaaXaaXaaLysLysLysLysGluTer	coding	Pathogenic
5	112840161	AG	A	G112840162A	APC	NM_000038.6(APC):c.4568del:p.Arg1523fs	coding	Pathogenic
5	112840182	G	GAA	T112840187A	APC	NM_000038.6(APC):c.4591_4592dup:p.Asn1531fs	coding	Pathogenic
5	112840254	G	GA	C112840261A	APC	NM_000038.6(APC):c.4666dup:p.Thr1556fs	coding	Pathogenic
5	112840319	AG	A	G112840320A	APC	NM_000038.6(APC):c.4726del:p.Glu1576fs	coding	Pathogenic
5	112840320	G	GA	G112840323A	APC	NM_000038.6(APC):c.4728dup:p.Glu1577fs	coding	Pathogenic
5	112840329	AT	A	T112840331A	APC	NM_000038.6(APC):c.4737del:p.Ile1580fs	coding	Pathogenic
5	112840329	ATTAT	A	A112840332C	APC	NM_000038.6(APC):c.4738_4741del:p.Ile1580fs	coding	Pathogenic
5	112840352	GT	G	T112840353C	APC	NM_000038.6(APC):c.4759del:p.Ser1587fs	coding	Pathogenic
5	112840359	CG	C	G112840360T	APC	NM_000038.6(APC):c.4766del:p.Arg1589fs	coding	Pathogenic
5	112840386	GCTTCA	G	C112840387A	APC	NM_000038.6(APC):c.4793_4797del:p.Ala1598fs	coding	Pathogenic
5	112840394	AT	A	T112840396A	APC	NM_000038.6(APC):c.4802del:p.Leu1601fs	coding	Pathogenic
5	112840408	TG	T	G112840410C	APC	NM_000038.6(APC):c.4816del:p.Ala1606fs	coding	Pathogenic
5	112840418	AC	A	C112840420A	APC	NM_000038.6(APC):c.4826del:p.Pro1609fs	coding	Pathogenic
5	112840428	CT	C	T112840429G	APC	NM_000038.6(APC):c.4835del:p.Leu1612fs	coding	Pathogenic
5	112840432	CT	C	T112840433G	APC	NM_000038.6(APC):c.4839del:p.Val1614fs	coding	Pathogenic
5	112840463	GT	G	T112840465G	APC	NM_000038.6(APC):c.4871del:p.Leu1624fs	coding	Pathogenic
5	112840469	AC	A	C112840473A	APC	NM_000038.6(APC):c.4879del:p.Gln1627fs	coding	Pathogenic
5	112840478	G	GCATGTTAGTTT	T112840490C	APC	NM_000038.6(APC):c.4885_4895dup:p.Thr1633fs	coding	Pathogenic
5	112840495	CG	C	G112840500A	APC	NM_000038.6(APC):c.4906del:p.Asp1636fs	coding	Pathogenic
5	112840505	T	TA	T112840507A	APC	NM_000038.6(APC):c.4912dup:p.Met1638fs	coding	Pathogenic
5	112840517	GTA	G	A112840519T	APC	NM_000038.6(APC):c.4925_4926del:p.Tyr1642fs	coding	Pathogenic
5	112840521	TG	T	G112840522T	APC	NM_000038.6(APC):c.4928del:p.Cys1643fs	coding	Pathogenic
5	112840538	T	TA	T112840540A	APC	NM_000038.6(APC):c.4945dup:p.Ile1649fs	coding	Pathogenic
5	112840544	CT	C	T112840548C	APC	NM_000038.6(APC):c.4954del:p.Ser1652fs	coding	Pathogenic
5	112840624	GA	G	A112840625G	APC	NM_000038.6(APC):c.5031del:p.Ala1679fs	coding	Pathogenic
5	112840714	CTG	C	G112840716A	APC	NM_000038.6(APC):c.5122_5123del:p.Val1708fs	coding	Pathogenic
5	112840724	AC	A	C112840726T	APC	NM_000038.6(APC):c.5132del:p.Pro1711fs	coding	Pathogenic
5	112840734	GA	G	A112840735T	APC	NM_000038.6(APC):c.5141del:p.Asp1714fs	coding	Pathogenic
5	112840739	CAATA	C	T112840742G	APC	NM_000038.6(APC):c.5148_5151del:p.Asn1716fs	coding	Pathogenic
5	112840745	A	AGCAG	A112840750G	APC	NM_000038.6(APC):c.5152_5155dup:p.Glu1719fs	coding	Pathogenic
5	112840747	C	CA	G112840749A	APC	NM_000038.6(APC):c.5154dup:p.Glu1719fs	coding	Pathogenic
5	112840805	TCA	T	C112840808A	APC	NM_000038.6(APC):c.5214_5215del:p.His1738fs	coding	Pathogenic
5	112840997	TGA	T	A112841003T	APC	NM_000038.6(APC):c.5409_5410del:p.Arg1803fs	coding	Pathogenic
5	112841034	CAG	C	G112841036A	APC	NM_000038.6(APC):c.5442_5443del:p.Asn1815fs	coding	Pathogenic
5	112841128	A	AT	A112841131T	APC	NM_000038.6(APC):c.5536dup:p.Tyr1846fs	coding	Pathogenic
5	112841375	TC	T	C112841376A	APC	NM_000038.6(APC):c.5782del:p.Gln1928fs	coding	Pathogenic
5	112841389	C	CT	C112841394T	APC	NM_000038.6(APC):c.5799dup:p.Pro1934fs	coding	Pathogenic
5	112841393	T	TC	A112841398C	APC	NM_000038.6(APC):c.5803dup:p.Gln1935fs	coding	Pathogenic
5	112841427	G	GCAGCA	A112841433C	APC	NM_000038.6(APC):c.5834_5838dup:p.Thr1947fs	coding	Pathogenic
5	112841447	AC	A	C112841448A	APC	NM_000038.6(APC):c.5854del:p.Gln1952fs	coding	Pathogenic
5	112841452	AT	A	T112841456G	APC	NM_000038.6(APC):c.5862del:p.Phe1954fs	coding	Pathogenic
5	112841457	GC	G	C112841458T	APC	NM_000038.6(APC):c.5864del:p.Ala1955fs	coding	Pathogenic
5	112841544	AATGAACCT	A	G112841547C	APC	NM_000038.6(APC):c.5953_5960del:p.Glu1985fs	coding	Pathogenic
5	112841547	GAACCTATCAAAGA	G	A112841548G	APC	NM_000038.6(APC):c.5954_5966del:p.Glu1985fs	coding	Pathogenic
5	112841549	AC	A	C112841551T	APC	NM_000038.6(APC):c.5957del:p.Pro1986fs	coding	Pathogenic
5	112841555	CAA	C	A112841557G	APC	NM_000038.6(APC):c.5963_5964del:p.Lys1988fs	coding	Pathogenic
5	112841571	C	CCTGA	C112841578G	APC	NM_000038.6(APC):c.5980_5983dup:p.Ser1995Ter	coding	Pathogenic
5	112841580	CAGGG	C	G112841583A	APC	NM_000038.6(APC):c.5989_5992del:p.Gly1997fs	coding	Pathogenic
5	112841588	AC	A	C112841590A	APC	NM_000038.6(APC):c.5996del:p.Pro1999fs	coding	Pathogenic
5	112841695	CT	C	T112841696G	APC	NM_000038.6(APC):c.6102del:p.Glu2035fs	coding	Pathogenic/Likely_pathogenic
5	112841744	GA	G	A112841749G	APC	NM_000038.6(APC):c.6155del:p.Lys2052fs	coding	Pathogenic
5	112841744	G	GA	G112841750A	APC	NM_000038.6(APC):c.6155dup:p.Pro2053fs	coding	Pathogenic
5	112841781	CAT	C	T112841783G	APC	NM_000038.6(APC):c.6189_6190del:p.His2063fs	coding	Pathogenic
5	112841820	CTGACACT	C	C112841824T	APC	NM_000038.6(APC):c.6230_6236del:p.Thr2077fs	coding	Pathogenic/Likely_pathogenic
5	112841826	CTTGAT	C	T112841831A	APC	NM_000038.6(APC):c.6237_6241del:p.Asp2079fs	coding	Pathogenic
5	112841874	CCT	C	C112841875G	APC	NM_000038.6(APC):c.6281_6282del:p.Pro2094fs	coding	Pathogenic/Likely_pathogenic
5	112841875	CT	C	T112841876G	APC	NM_000038.6(APC):c.6282del:p.Asp2095fs	coding	Pathogenic
5	112841904	ATTCAGGAAGG	A	T112841906G	APC	NM_000038.6(APC):c.6312_6321del:p.Ile2104fs	coding	Pathogenic
5	112841926	TAGTA	T	A112841931G	APC	NM_000038.6(APC):c.6337_6340del:p.Ser2113fs	coding	Pathogenic
5	112842044	T	TA	C112842046A	APC	NM_000038.6(APC):c.6451dup:p.Thr2151fs	coding	Pathogenic
5	112842077	TAATAA	T	A112842079G	APC	NM_000038.6(APC):c.6485_6489del:p.Asn2162fs	coding	Pathogenic
5	112842166	GA	G	A112842173G	APC	NM_000038.6(APC):c.6579del:p.Val2194fs	coding	Pathogenic
5	112842219	AT	A	T112842222C	APC	NM_000038.6(APC):c.6628del:p.Ser2210fs	coding	Pathogenic
5	112842335	T	TA	G112842342A	APC	NM_000038.6(APC):c.6747dup:p.Gly2250fs	coding	Pathogenic
5	112842357	AC	A	C112842358T	APC	NM_000038.6(APC):c.6764del:p.Thr2255fs	coding	Pathogenic
5	112842368	CA	C	A112842372G	APC	NM_000038.6(APC):c.6778del:p.Ser2260fs	coding	Pathogenic
5	112842470	AG	A	G112842472T	APC	NM_000038.6(APC):c.6878del:p.Gly2293fs	coding	Pathogenic
5	112842537	CAA	C	A112842538C	APC	NM_000038.6(APC):c.6944_6945del:p.Gln2315fs	coding	Pathogenic
5	112842888	TC	T	C112842889A	APC	NM_000038.6(APC):c.7295del:p.Arg2431_Ser2432insTer	coding	Pathogenic
5	112843213	CAATCA	C	A112843215T	APC	NM_000038.6(APC):c.7621_7625del:p.Pro2540_Ile2541insTer	coding	Pathogenic
5	112843365	CAT	C	A112843366G	APC	NM_000038.6(APC):c.7772_7773del:p.His2591fs	coding	Pathogenic
5	112843518	ACT	A	C112843521A	APC	NM_000038.6(APC):c.7927_7928del:p.Leu2643fs	coding	Pathogenic
5	112843530	CA	C	A112843533T	APC	NM_000038.6(APC):c.7939del:p.Met2647fs	coding	Pathogenic
5	112844127	AAG	A	A112844132G	APC	NM_000038.6(APC):c.*2AG[2]	coding	Benign/Likely_benign
5	112844530	G	GC	A112844532C	APC	NM_000038.6(APC):c.*405dup	noncoding	Benign
5	112844531	CA	C	A112844540T	APC	NM_000038.6(APC):c.*414del	noncoding	Benign
5	113488343	G	GGCTGCTGCC	C113488344G	MCC	NM_001085377.2(MCC):c.71_72insGGCAGCAGC:p.Ser24delinsArgAlaAlaAla	coding	Benign/Likely_benign
5	119473838	CCA	C	C119473855T	HSD17B4	NM_000414.4(HSD17B4):c.113-69CA[8]	noncoding	Benign
5	119473939	TGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAGAGGTGGAAAAGCAGTGGCCAACTATGGTATGGTATTTGAGAGAACTATACTATTTATTTTCCTTCAACTAATGCTATTTGTCACATTAA	T	G119473940T	HSD17B4	NM_000414.4(HSD17B4):c.145_220+63del	coding	Pathogenic
5	119474446	CT	C	T119474450G	HSD17B4	NM_000414.4(HSD17B4):c.270del:p.Phe90fs	coding	Pathogenic/Likely_pathogenic
5	119475719	C	CA	T119475722A	HSD17B4	NM_000414.4(HSD17B4):c.296dup:p.Asn99fs	coding	Pathogenic/Likely_pathogenic
5	119475730	G	TGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT	G119475730T	HSD17B4	NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT	noncoding	Pathogenic
5	119478837	TA	T	A119478838T	HSD17B4	NM_000414.4(HSD17B4):c.439del:p.Ile147fs	coding	Pathogenic
5	119478985	G	GCGGGATCA	A119478997G	HSD17B4	NM_000414.4(HSD17B4):c.590_597dup:p.Met200fs	coding	Pathogenic
5	119479003	C	CA	G119479005A	HSD17B4	NM_000414.4(HSD17B4):c.605dup:p.Thr203fs	coding	Pathogenic
5	119479264	AT	A	T119479274G	HSD17B4	NM_000414.4(HSD17B4):c.622+253del	noncoding	Benign
5	119489225	CA	C	A119489226C	HSD17B4	NM_000414.4(HSD17B4):c.657del:p.Pro220fs	coding	Pathogenic
5	119489265	G	GA	T119489268A	HSD17B4	NM_000414.4(HSD17B4):c.698dup:p.Asn233fs	coding	Pathogenic/Likely_pathogenic
5	119496655	GA	G	A119496661G	HSD17B4	NM_000414.4(HSD17B4):c.972+15del	noncoding	Benign
5	119502020	AT	A	T119502024G	HSD17B4	NM_000414.4(HSD17B4):c.1210-17del	noncoding	Benign
5	119502063	TAG	T	A119502066T	HSD17B4	NM_000414.4(HSD17B4):c.1235_1236del:p.Glu412fs	coding	Pathogenic
5	119502063	T	TA	G119502065A	HSD17B4	NM_000414.4(HSD17B4):c.1233dup:p.Glu412fs	coding	Pathogenic
5	119509133	CT	C	T119509137C	HSD17B4	NM_000414.4(HSD17B4):c.1334-4del	noncoding	Benign
5	119515022	T	TAG	C119515024G	HSD17B4	NM_000414.4(HSD17B4):c.1480_1481insGA:p.Thr494fs	coding	Pathogenic
5	119515040	TA	T	A119515042T	HSD17B4	NM_000414.4(HSD17B4):c.1499del:p.Asn500fs	coding	Pathogenic
5	119525390	TA	T	A119525397T	HSD17B4	NM_000414.4(HSD17B4):c.1573+112del	noncoding	Benign
5	119525713	G	GTT	C119525726T	HSD17B4	NM_000414.4(HSD17B4):c.1574-193_1574-192dup	noncoding	Benign
5	119526284	A	ATATATATATATG	A119526296G	HSD17B4	NM_000414.4(HSD17B4):c.1680+272_1680+273insGTATATATATAT	noncoding	Benign
5	119527198	CAG	C	G119527200A	HSD17B4	NM_000414.4(HSD17B4):c.1748_1749del:p.Arg583fs	coding	Pathogenic/Likely_pathogenic
5	119531363	AGTGGCATATAACCAAAG	A	T119531365C	HSD17B4	NM_000414.4(HSD17B4):c.1954_1970del:p.Trp652fs	coding	Pathogenic
5	119531391	TG	T	G119531395C	HSD17B4	NM_000414.4(HSD17B4):c.1984del:p.Ala662fs	coding	Pathogenic
5	119531563	AGG	A	G119531568T	HSD17B4	NM_000414.4(HSD17B4):c.1993+164_1993+165del	noncoding	Benign
5	119531566	GGGGT	G	G119531568T	HSD17B4	NM_000414.4(HSD17B4):c.1993+164_1993+167del	noncoding	Benign
5	119531567	G	GT	G119531568T	HSD17B4	NM_000414.4(HSD17B4):c.1993+163_1993+164insT	noncoding	Benign
5	119531568	G	GGT	T119531597G	HSD17B4	NM_000414.4(HSD17B4):c.1993+165GT[15]	noncoding	Benign
5	119531568	G	GT	G119531569T	HSD17B4	NM_000414.4(HSD17B4):c.1993+164_1993+165insT	noncoding	Benign
5	119531568	G	GTGT	G119531569T	HSD17B4	NM_000414.4(HSD17B4):c.1993+164_1993+165insTGT	noncoding	Benign
5	119541715	C	CT	A119541724T	HSD17B4	NM_000414.4(HSD17B4):c.2122-182dup	noncoding	Benign
5	119541834	TA	T	A119541848G	HSD17B4	NM_000414.4(HSD17B4):c.2122-57del	noncoding	Benign
5	122070381	G	GT	G122070385T	LOX	NM_002317.7(LOX):c.1131+110dup	noncoding	Benign
5	122070487	TCTTTAC	T	C122070493G	LOX	NM_002317.7(LOX):c.1131+1_1131+6del	noncoding	Pathogenic/Likely_pathogenic
5	122076717	CA	C	A122076722T	LOX	NM_002317.7(LOX):c.740+175del	noncoding	Benign
5	122076897	CCAGA	C	A122076901T	LOX	NM_002317.7(LOX):c.732_735del:p.Cys244fs	coding	Pathogenic
5	122077360	TG	T	G122077362A	LOX	NM_002317.7(LOX):c.625del:p.Gln209fs	coding	Pathogenic/Likely_pathogenic
5	122077634	TG	T	G122077638C	LOX	NM_002317.7(LOX):c.351del:p.Arg118fs	coding	Pathogenic
5	122077919	GGGCGCAGTGCACTA	G	G122077921C	LOX	NM_002317.7(LOX):c.53_66del:p.Leu18fs	coding	Pathogenic
5	123377525	T	TC	T123377527C	CEP120	NM_001375405.1(CEP120):c.2206dup:p.Glu736fs	coding	Pathogenic
5	123378440	TAAAAAA	T	A123378453G	CEP120	NM_001375405.1(CEP120):c.2104-18_2104-13del	noncoding	Benign
5	123378440	TA	T	A123378458G	CEP120	NM_001375405.1(CEP120):c.2104-13del	noncoding	Benign
5	123378440	T	TA	G123378459A	CEP120	NM_001375405.1(CEP120):c.2104-30dup	noncoding	Benign
5	123382213	GA	G	A123382218T	CEP120	NM_001375405.1(CEP120):c.2014-14del	noncoding	Benign
5	123382325	TA	T	A123382345G	CEP120	NM_001375405.1(CEP120):c.2014-126del	noncoding	Benign
5	123382325	T	TA	G123382346A	CEP120	NM_001375405.1(CEP120):c.2014-145dup	noncoding	Benign
5	123385029	G	GT	C123385036T	CEP120	NM_001375405.1(CEP120):c.1684dup:p.Thr562fs	coding	Pathogenic
5	123386673	AT	A	T123386676A	CEP120	NM_001375405.1(CEP120):c.1431-7del	noncoding	Benign
5	123386675	TTAAA	T	T123386676A	CEP120	NM_001375405.1(CEP120):c.1431-12_1431-9del	noncoding	Benign/Likely_benign
5	123386675	TTAA	T	T123386676A	CEP120	NM_001375405.1(CEP120):c.1431-11_1431-9del	noncoding	Benign
5	123388464	CA	C	A123388466G	CEP120	NM_001375405.1(CEP120):c.1397del:p.Leu466fs	coding	Pathogenic
5	123391119	T	TA	T123391121A	CEP120	NM_001375405.1(CEP120):c.1028dup:p.Asp344fs	coding	Pathogenic
5	123391602	CTTCTTT	C	T123391607G	CEP120	NM_001375405.1(CEP120):c.811-271_811-266del	noncoding	Benign
5	123393347	TG	T	G123393348C	CEP120	NM_001375405.1(CEP120):c.762del:p.Ser254fs	coding	Pathogenic
5	123399030	T	TA	G123399042A	CEP120	NM_001375405.1(CEP120):c.612+95dup	noncoding	Benign
5	123412655	A	AT	C123412665T	CEP120	NM_001375405.1(CEP120):c.322-124dup	noncoding	Benign
5	126546638	CAGAA	C	G126546644C	ALDH7A1	NM_001182.5(ALDH7A1):c.1490-243_1490-240del	noncoding	Benign
5	126546651	T	TAA	T126546667A	ALDH7A1	NM_001182.5(ALDH7A1):c.1490-267_1490-266dup	noncoding	Benign
5	126546651	T	TA	T126546667A	ALDH7A1	NM_001182.5(ALDH7A1):c.1490-267dup	noncoding	Benign
5	126546654	A	AAG	A126546656G	ALDH7A1	NM_001182.5(ALDH7A1):c.1490-256_1490-255insTC	noncoding	Benign
5	126550187	AAGTTGTACCCAA	CCCAAC	A126550187C	ALDH7A1	NM_001182.5(ALDH7A1):c.1412_1415+9delinsGTTGGG	noncoding	Pathogenic
5	126550199	A	AC	G126550200C	ALDH7A1	NM_001182.5(ALDH7A1):c.1411_1412insG:p.Leu471fs	coding	Pathogenic
5	126550453	CATTGATAATAAGTAAAAAATTTTGGGATTTTTCCCCTAATTATCAGAAACAAATATTAACACATTCTTCCTTTCATTCAAGCTACTACATATAATAGCTAATATCTATTGAGCTCTTACGTGTGTAACACACCAATCTAAGCACTTAACATGCATTTAGTTATTTAATCCTCATCCTATAACACAGGTTTCCTACTACCTCCCAATTTACAG	C	A126550458G	ALDH7A1	NM_001182.5(ALDH7A1):c.1318-372_1318-161del	noncoding	Benign
5	126554665	C	CT	A126554674T	ALDH7A1	NM_001182.5(ALDH7A1):c.1094-280dup	noncoding	Benign
5	126556239	C	CT	G126556261T	ALDH7A1	NM_001182.5(ALDH7A1):c.1009-245dup	noncoding	Benign
5	126556239	C	CTT	G126556261T	ALDH7A1	NM_001182.5(ALDH7A1):c.1009-245_1009-244dup	noncoding	Benign
5	126556239	C	CTTTT	G126556261T	ALDH7A1	NM_001182.5(ALDH7A1):c.1009-245_1009-242dup	noncoding	Benign
5	126556239	CTT	C	T126556259G	ALDH7A1	NM_001182.5(ALDH7A1):c.1009-226_1009-225del	noncoding	Benign
5	126559263	TC	T	C126559264T	ALDH7A1	NM_001182.5(ALDH7A1):c.984del:p.Arg329fs	coding	Pathogenic
5	126568256	T	TACCAAACC	T126568265A	ALDH7A1	NM_001182.5(ALDH7A1):c.866_871+2dup	noncoding	Pathogenic
5	126577190	T	TC	A126577192C	ALDH7A1	NM_001182.5(ALDH7A1):c.538dup:p.Glu180fs	coding	Pathogenic
5	126578638	CAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAAACAAACAAAAATATTGTATTTTAAATACAAACTTACAAACTTTAAAGTCACCCATAATCCTACAAGGTGTTTATTTTAATTAAAGGCAGCTGGACAGTATAGAACCATACCACACGAATACGATGGTTCACAAATCCCAGTTAAAACCACAGACCAACTGGAAAGGTGGCTGTCCCAGCCATCAGTCTTTCTAGCCACACTCACACTGCTAGCTAGGATGAGGGACCATACCAGACACAGCACCTCACTCCTGGGCCCTCCTTAATCTGGGCACCTTAATCCCTAGAGATGAAGTGCTGGCACAGCCTCTTCCTGGCAGGGCCTGCCTCTTCCTGGCAGGGCCTGCCTCCTCCTCTCCAGCCCTCCCATCTCTGCCCTGATGTCACCCCCTTGCTTATAACCCTGTGGATTTTGGATACCTACTGTAGCTATTCTCAGAATAAAGTCCAATCTCCTTGTCAGACAAAATCTCTTCCCGAGGTTCTCTTTCCACTCTATCTGCCCTACCACTGCACCCTCCAGCTGTGCTGAAGCAATGCAATCCTCCCAAATAAGCCAGACCCTCTCAGCCTTCACACAGGCTTCTTCCTTCTTTAAAACAACTTCCAGCACTCCACTCCTTCTCCTCTTTGTCCCATTTGGGACCTTACCTTGGCTAACCTTCTCTTGGAGGCCTTCCTGGACTGCACTCATGAGGCTGGGTTAGGGGATCCCAGCTATGTGCCCACCATCCTACCGTTTACTCCCTCATATTACTTACCATGCTGGATTATGCTGGATATAATTACCTGTTTATTTATCTCCCACTCTAAGGTATAATTTATAAGCTTATAAATCCCTTGAGGACAGGGACTATGCCTTATAGCTCGAGTATCACCTAGTAGACTACCCGGCACCTGATAGATGCTCCATAAGCATTTATTGAATTAATAAAGCCAAAGTTACCCCAAAGTCTCTACATAAATGAGTAAACTGCTTTAAAAAAAAAAATAGAAGTGTAAGCTAGGTGTGGTGGCTCATGCCTACAATCCCAACACTTTGAGTGGCCAAGGCAGGAGGATTATTTGAGCCAAGGAGTTCTAGACCAGCCTAGGCCACATAGTGCAACCTCGTCTCTACAAGAAAAATTTTTAAATTAGCTGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGAAAGATTGCTTGAGTCCAGGAGGTCCAAGCTGCAAGGGGCTATAATCACACCACTGCACTCCAGCCTGGGTGACAGATCCTATCTCAAATAAACAAACGAAAATGTGCAAGCAATTGAGAAAAATTTTAATTGTTAATTGTGAGGCAGGCATCATAGTAGGTATAAATCAAATAGTTACCTGCTTGCACATGTACATATCCCCAAATTGGAGGTTTATTGACTGTATTGTTGTTATTGCTGTTGTTGTTGAGACAGAGTTTTCTTCTGTTGCCCAGGTTGGAGAACAATGGCGTGATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAATGTGCCACCATGCCCAGCTAATCCGTATTTTTATTAGAGATGGGGTTTTTCCATGTTGGTCAGGCTGGTCTTAAACTCCCGACCTTAAGTGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGGTGGGCCTATTAACTTTTCTTAGCTAGAAAAAAACTCTTGAAAGTGTTCAATGACATAAAATTAATATTGGATAATGGGAATCATTGCTAGATATCTAATTAAGGACATTAAGTGTCCTTAATTAGACTTAAAAAGACTCCCCCAACTCTTTCTACAAGTAGGGAATTTACTCAATATTCCAAGAAAAAGAGAAAAATATGATTTTTTAAAAAATATTATTTCCTTATTATAAATGTAACCTAATAACCATCATGGAAATTTAGAAAATGCAGAAAAATAGAAGAAAATCCACTACTAGTAATTCTGCCACAGAGATAACCACTGCTACCACTTTAGCATACACTTCTATCCCACCATTGCCAATGCAGACATACAGTCACCTGTTTTGCTCTATCCACATTGCAAACATCACAAATTGCTTACACTCTTAACCTCATTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGCAGTGCAATGGCACGATCTCGGCTCACCGCCACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTCACTAATTTTGTATTTTTAGTGGAAATGGGGTTTCTCCATGTTGGCCAGGATGGTCTCTAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCATCTTGTCCAGCTTTTTTTTTTTTCTTACTCTTGCTGTCATCTTAGTATCTTCATTGTTAAAACCTCAGAGTATAAGATTGGTTCTTACAGAACAGCTTGTAATAGCAAAACACTGAAAACAGCCCTACATATACATCATTTGGAAGCTGACTAAATAAATTATAGTCTCTTTATAACAAAATAGATAGCTGCAAACACAGATGAAGGAAGCCCCTTAATAGAATAATACGAAAACAATTTCCAGCCTGACACAGTGGCTCACGCCTGCAATCCTAACACTTTGGGAGGTTGAGACAGGCAGATCACCTGAGCCCCGGAGTTCGAGACCAGCTGGGCAACACTGCAAAACCCCACCTCTACAAAAAAAAAAAAATAGCCAGGTATGGTGGCATGCACCTACAGTCCTAGCTGAGGTAGGAGGATCACCTGATCCCGGGGATGTTGAGGCTGCAGTGAACTGTGATCATGCCACTACATTCTGGCCTGGGCAAGACAGTAAAATCCTGTCTCAAAAAAAGAAAACAAAAAAACAATTTCCAAGATATATTATTGAATATAAAAGTATAAAACAGAACGTACAGTTTGCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGTGGATCATGAGGTGAGGAGTTCAAGAGCAGCCTGGCCAGGATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCGGGTGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAATGTATAGTTTGCTACATATTTGGCTGTACGTGCTCTAAAAAGATACACAAGGGCCTAGGAAGGTGGCTCATGCCTATAATCCCAGCTACTCGGGAGGCTGAAGGGGAGGATCACTTGAGGAGAGAAGTTTGAGACCAGCCTGAACAACACAGCAAGATCCTACAAAATATAAAAAAGACACACAAGAAATTGAAAGCATTCACTACTTCCATGGGGTACTATGGCTTAGTCATGGGGGTAGGAGGGAAACTTTTAATCCTTCAACCTTTTATTGCTTTCTTATTTTCTGATATGAATCTATCGTTTCTTCAAAAAAAATTAACATTAGTATAATTTAAAAATAAGTAAATAAAATCCTCCCGTAAAAGTGTGGGTTAGGGGAAGACAACCTTCACAAACATTATTTTTAGTACATGCTAATAGTCTACCAAAATTGGCTTAGATTTTTTCCCCTTATGATTCGACATTTAGGTCATTTCTAATGTTTTTTATTGATGCCACAATGAACTTCTTTAAACATAACTTCTGTCTTATTTCAGATTATTTACTTAGATTCTTAAAACTGGGCTCTTTAAAGTTAGAGCTCTTTGGGTATATTTCCAAATCGTTTTACAGATGAGTTAAAAGTGTCTTACCCGTGGACTTGCCAACATTAAGTTTTATCTTTAAAACAAAAAGGTTCTTGATCTAACATTTTCATCTGTTTTAATTTGCATTTCTTTGAAAGATTGAGGATATTTTCACATATTTATGCCACTTGAAATTTCTCTTTTGCACAGTCAATAGCCAGAGTATTTTATTTTTTTTGGAGCTCTGTATATCAGAGTACAAAACTCAGCTTAACTAATTTCATTGCTTACTTTCAGAAGGCAAGATAGGTCCTCCAATCATCCTTGATAAACCAACAGCATAGTCACAGATATCCACATACTCCTGAACTTCACCCACACCTTCCACTAAGATTTTCCCCATCTCCAAAGACACCTAGAAATATAAAACGACAAGCAGAATTTTTCCAACAGAATTCACATTATAAACATTAAATTAAAGAAAGGGGGAAGCAAAACATGTTTTGTAAATGTAATAAACTGAAGAAAGTCTGTTTCATTTTCCAAAGAATTTTAAAACACAACAATTGCCTTCACTTTTTCCTGTCTACCTTGTTAATCTTTCCTCTAAGGAAAGAATTTTTAAAATATATAAAGTACAACCGGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTTTGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAATAAATAATAAAATATAATATAATATAAATTACTTTTCTTAAAAACTCTTCTAGCCAAGTGTGGTGGCCCATGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATGTCTACTTTAAAAATACAAAAAATTAGCCAGCCGTGGTGGCACAAGCCTGTAATCCCAGCTACTCGGGAGGCTCAGGCAGGGGAATTGCTGGAACATGGGAGGCAGAGGCTGCAGTGAGCCAAGATTTTACCACTGCACTCCAGCCTGGGTGACAGCAAGACTCCATCTCAAAAAAAAAAAACCTCACAATTTTATATATAGAAAAGCATGACAGCCTTATTGTCCACTCAAAGAATTGTGTATATACTACAAAAATACTTTACCAAGCT	C	A126578639T	ALDH7A1	NM_001182.5(ALDH7A1):c.388_518-1428del	noncoding	Pathogenic
5	126582867	AG	A	G126582869T	ALDH7A1	NM_001182.5(ALDH7A1):c.500del:p.Pro167fs	coding	Pathogenic
5	126583997	GT	G	T126584001G	ALDH7A1	NM_001182.5(ALDH7A1):c.327del:p.Lys109fs	coding	Pathogenic
5	126592690	T	TC	T126592691C	ALDH7A1	NM_001182.5(ALDH7A1):c.285_286insG:p.Arg96fs	coding	Pathogenic/Likely_pathogenic
5	126593308	A	AACACACACAC	T126593345A	ALDH7A1	NM_001182.5(ALDH7A1):c.246+7GT[23]	noncoding	Benign
5	126593308	A	AACACAC	T126593345A	ALDH7A1	NM_001182.5(ALDH7A1):c.246+7GT[21]	noncoding	Benign
5	126593308	A	AAC	T126593345A	ALDH7A1	NM_001182.5(ALDH7A1):c.246+7GT[19]	noncoding	Benign
5	126593314	C	CACACAA	C126593320A	ALDH7A1	NM_001182.5(ALDH7A1):c.246+36_246+37insTGTGTT	noncoding	Benign
5	126595663	TG	T	G126595669C	ALDH7A1	Single_allele	noncoding	Benign
5	126814258	GCATTTACTACTCTTTTCCATTTACTAATAGTAAGTTGTCTACTAGTTACTGTCTATCCCTCAATTTTATTTTTTCCTACTGTATTATTATTTTTTTGGCTGCTGCCTAATCCATTTGATTTACTTAGTACAGATCTTCTCTTGAGGTTGATCTTCACTGTGCTTTGGATGAGGAGACTGTTATTAATAAGTAGTAGTGGGCTCTGAAACTTAGTAGCTATGTGTTCTAACCTAGGTTCAAGGCTGTTTCCCTGTTAATTGAATTCCCATTTTTGCAAGTTGGTTTTTTTTTTTTTTTGAGACAGAATTTTGCTTTTGTTGCCCAAGCTGGAGTGCAATGGCACTATCTCAGCTCACTGCAACTTCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCGCTACCACGCCCAGCTAATTCTTTGTATTTTTAGTAGAAATGGGGTGCACCATGTTAGCCAGGTTGGTTTCAAACTCCTGACTTCAGGTACTCTGCCTACCTTGGCCTCCCAAAATGGAAGGGATTACAGGCGTGAGCTGCTGCCTTAAATGCTGGGATTACAGGTGTAAGCCACTGTGCCTGGCTGCAAGTTTTTTTTGTTAACCTTATCTTAGTGGTTTTTAAGTAATGTTAGGCAGTGCACTGGGGGTTTCCAGGAGCTAACTCCTTAGCAGATAGGAGACGAGCAATCCCTTTAGCCAAAATAGTTTTTAATTTCTCTGGGGTGAATCTTTCCTCTGTTCATTATTGGTAACAGACTTTATGGTAAACAGTATATTTTGAGGAATATTTTTATTAGTTGATAAATTTTAGCCTTAGAAAAATCATCAAAAATAAAAATGTTATCTTTTTGAATATTTTCCTATTGTTTGTCTTAATAGTGTTTGTTGCTGAGTCATATCAGTTTCATCATGCTGCCTATTAGGCCATAAGAATTTCCTTTTGGTTAAATAACTCAGGTTAGTGAAGTACTTCTTAAATTTTACTTAAAATTGACATGGCTTTAAAATACTGGTTTTACAAGATATATTTAAATAATATATAGATGGTAGCAGTGTTATGTTTTGGAATTAGAAATTTTACATTGCTTATAGCATCTCTAGATTTTTGACTTGGGACCAAATGAATTGGTTGGTTAGAGTCTGCTTGCCTTAGAGAAGAGTACAGTATGGTACTTAAAAACACCTCTAACTTTTGTTTTTCTAACACCCAGATTCTGGAGACTTTGGTTGCAGCTAGACCTTAATAAACCAGTACAATTACATTACATACTATAAAATATTTAAAAACCCCAAGATCATCAGAAGTCATAAAATTTAGGGTTAGTGGCAAGATCTGAGAGATCATCTAGATAGTTAGAGCTCTTCATTTTCCTTATGTGGAAACTGGTTTAGTGAGATTAGTTACAGCTTGCTTATAGCCTCATAGGTAGTTTCAATGGCAGAATTAGAAAGGAGAATCTAGGTCTAACTTCTCATACTGTGTTCCTTATATTTCACTACACAGGTGTAAGTGCAGCTACTGAAAATAGAATTTAAATATTTCTATTTAAAATACAGAATGATTCAGAGTAACTTTAAAATTTTTATACCTAGATTTTGATTTTTCCCTCTTAAAGAGCTCTACAACATCAAAGGCAGTCAAACAGAGACATCATTGGGTTTATAAATCTCGGCTCAGGTTATCTGTGAATCTTGGGTAGTTTATATCTCTCATCAACTCTCCTTTAGATTCTACCTTTTTGCCCATTCAAATATATCTTCTACCTCTGATATATGAAATAAAGGGAGGCATTTTGAACTTACATGACTTTTTTTTTTTCTTTTGGAGAAAAAGAAAATACAAGGAACATGGTAGCGGGGAAATGGATTTCTCCATTTATAGCATGATTTTTGCAAACGCAGTTAAATGCAAGTTCTCTGAGGTTCAGGGACTACCTTTGTAATATCCATCTTAAGAGGAGTGCCTGTCTAAATAGCATGTCAAGTCATATACTACTCTGGAATTTAATTAATTGATTGGTCAATTTTTTTTCTTTAAAAATATATTTTTGTGTGTGCGTGTGAACCAGGCACCCCCTCTGCCCCCAAATAGGTTTACAGTGACTCTTGATTATTTTTTAAATAACCTTGTTATTTTGGCATAATTTTAGATTTACAGAAAAGTTGGCAAAGTACTATAGACAGTTCTTGTTTTCCTCTCACCCATTTTCCCCTGTTGTTAGCATCTTATGTTACCATAGTATATTTGTCAAAACTAAGAAACTGACATTGGTATATTACTGTGAACTCGTCTCCAGACTATTTGGATTTCACCAGTTCTTCTGTTATCTTCTTTCTGTTCCAGGTGCCACATGCCTCCCCTGGTCTGTGACAGTTTCTTGGGCTTTCCTTGTTTTTTATGAGCTTGAGTCTTGAGTAAGATTGTCCAGGTATCCTGTAGACTGTCCCCCAATTTGGATTTGTCCGGTGCTTTTCACGTGATTAGACTGGGGTTTTGGGTTTTAAGTGCCCGTTTTGTCACATCGTATCAGGGATTGCACGTATGTGATAACCACATGACATCACTGGTGGTGTTTGGTTTAAGATAGTGTTTGTCAGGTTTCTCCACTGTCAACAGCGCTACTATTTTTCCGTTCCCATACACTGTTCATGGAAAACAGCTCACTAAGTCCAGCCTACCCTCAAGGGTGAAGGACAGGGCAGGACTTAAGCGCCACATTCTGGAGGGAAATCTACATTTATTAAATGGCATTCTTCTGTAACGATTTATCCATTCCCCGTTTGTTTGGTTTGTTTGTTTGTTTGTTTGTGTCCGTATGGACCATGGGCATTTACTTTATACTTTGGGTTGTAAGCTAATACTGCAGTATTTACTTTTTTGGCTTAAATTGTTTCATATTTGGCCACTGGGAGTTCTGTCAGCTTGGCCACTATGTCCCATTGTTTTTTGAGCACTTTGTTGCTTTCTGGTACTATAACATGCTCTAGGCTCATCTTGCATTTTCCCTGCCCCAGTCCTAGAATTATCCAGTCTCCAAGGAGCCCTGGTTCTTGTTATTGGAGAATGGTATATAGAAATTAAGATCTGGGCACTGAGTGTGCTCACTGGTACTGGGTATCACTGCTTCTTGGCCCTCTCACCGATAAAAGTGGGTAACATTTTATGTATGCTAACCCATGTGTATGCACATATTTATAACTTTTTCTGTCTAATCATTTGTGTTAAGATAAACATGAATTCATACAGATGTCTCTGACTTGAATCTAGTAGGACAGCATTCAATTTTGGCTTCCTTTCTGACATACCTGTATCTTTTCTCTCTCAGAGTGAGAAACCTGGTTTTTATCATCCATTTACTTATCTGTTCAGCCCCAGTATATGTTAAAGCAGTTTCAAAATTTTGAACCTGTACTGCTGTGAAAAGTAAATTTACCAGCAAGAGTACAGTTTTTATGTATTTGGTAGCTCCTTTTTATCTCTAGCCTTCTAGATTTAGTTTTTGCACATTAGATGCCCTTTCTCTCCTGCTCTGTTGCAGGTACTTGTGATTCTGAGGGCCTAAGCTATCCATCAGTCTTTTTGAGTTGTCACTTTCTGAGGCTACTGAGATGAATTCTGTCATGGAGAAACACAGAAGAATAATTACCCAGCGAGCCACAAGGTTTCTAAGATGAACTTTCTGGTGTAGGATGTGTGATTTTTAATTTTTTTATGCCAAATATACAGCTTCTATATTCACAGTAATACTTTACAAATCACCCTATATTGTGTGTCCTTTGTGTGCTAACTGAACATGAGATAGCCCAGCAATCCTAAAGGGACACTAGGTAGTGCCTTCCACATAGTAACCAGAGTCCCTTTGCCTTGGTTTCTGAATATTCCTCAGCAGTCTGCTAAAACGTACTTTTACCCACTCTTAGGTTTATTTTGTCAGTCAGTGTTTATATCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCGGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACTACAACCTGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCCCGGCCTCCCAAAGTGTTGGGATTACAGGCGTAAGCCACCACACCCACCCAGTGTTCTTATCTTTTTAAGTTCTTTATTTAATTTATACTTTTGGAAGTAAAGGCTTTGTAAGGGAGCCAGACTTGACTTTTACCAAAACCACATCTTAACATTTTTTTGGCTAAGTACAGAAAAATTATATGTATATTTACAGAACTTACATTTGTGGAATATGTCTTTTATTCTTTTATCAGCCAAAACTATCCTGAGGTCTGTGTTTTGTATTTGAGGAATTTTGGGTTTTAATTTCTTAAAATCTCTTGAATTCTAGTGAGTTAGAGATTCCATAGGGTTGTACTGTTTTCCAGTCTAGGAAATGATTTAAAATAGCTGCCTGGTGCTAATGTTGGAATGTTCCTAGAAAGTAAATATGTTTCCTTGCATCTTAAGTCTAGAGCATGTTTGGAAAGGATTCAAGAATTAGAGGACTTGCTTGCTAAAGAAAAAGACAACTCTCGTCGCATGCTGACAGACAAAGAGAGAGAGATGGCGGAAATAAGGGATCAAATGCAGCAACAGCTGAATGACTATGAACAGCTTCTTGATGTAAAGTTAGCCCTGGACATGGAAATCAGTGCTTACAGGAAACTCTTAGAAGGCGAAGAAGAGAGGTAAGGAACTTAAGGGTCACCCTACCTTATGGTCCACTTTTTGCCTCTCACCCTTTTTATTGAAATAAAAATAAATAGCATTTTAAAAAGAACTTTATTTTCTTGGTCATTTCTTTGAACACCTAGGTATAGAAGTAGTAATAGATCATATTTCTACCTCATCGCAGAAAATGTTGCTCAAGTACTCTTAGTTTATTTATTATTATTACTTTAAATGCTGAACTGCATCAGGATGGATTAGTTCCTTTGAGATTTTAAGTGTTTTGGTGATTTAATATATTGTAAAATGCCAAACTGGCTGAAAGAGACTTTACATATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTCAGCCTGTTGCCCAGGCTAGAGTGCAGTGGTGTGATTCTCGGCTCACTGCAACCTTCACCTCCTGGTTTCAAGCGATTTGCCTACCTCAGCCTCCTGAGTAACTGGGATTACAGGCGTGTGTCACCACACCCGGCTAATTTTGTTTTTAGTAGAGAAGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTGCAAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCTGGCTTTATATATATTTTAAATCTGGTCAATGTATAAATATTTTTGACACCTGTTCTCAGAAAAGAGTTCCAAAAGGGCCAGGTGCATTGCCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGCGGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACTCCGTCTCTAATGAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGAATTGCTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCACAAAAAAAAGAAAAAGAAAAAAAAAGTTCCAAAAGGAAAGTGGCTGATTTAGGATAAAAAGCCAGATAATTTTAATATTATATCCGTTGTGATCATAAGAAAGTACAGGTACGAAAAGAGAAAAAAGTACACCAACTATAACAGTGGCTGTGGTGGGTGGTGGTAGATCAGATGACTTTCTACCCATTTACCAGACTTCTTGCATTATGGTTATATTACTTCCATCCCTAGAGAAAACATTCAGATTGTTATTTTTTAAAAAAGAAAATTGACGATGGGCACCTTATGAAGAAGTTTACATTAGTTAAGGTAAACTTTGGCTTTGGCTAACAGATTGTAAGTAATATTTTGCTTTAGAAATGCATGGGTGGGATATTCTTCTTCTTATTATTATTATTTTGAGACAGGTTTTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGTATTACAGGCGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGATCTTGAACTCCTGACCTCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGTTGGGTTACAGACATGAGCCTCTGTGCCCAGCCCTTGTTTTTTTGTTTTTTTTTTTTTTAAGGCGAGAAGGGCATATGTGTTTTAAAAATGAATTGTTTTATTTTTCCCATATAGGTTGAAGCTGTCTCCAAGCCCTTCTTCCCGTGTGACAGTATCCCGAGCATCCTCAAGTCGTAGTGTACGTACAACTAGAGGAAAGCGGAAGAGGGTTGATGTGGAAGAATCAGAGGCGAGTAGTAGTGTTAGCATCTCTCATTCCGCCTCAGCCACTGGAAATGTTTGCATCGAAGAAATTGATGTTGATGGGAAATTTATCCGCTTGAAGAACACTTCTGAACAGGTAATAAAATAGACCCTTTTTTTTCTAGCAAGGCTTTGTGGATTGCTAGATTCTCTTGCAATTGTCATAGCTCCTTAGTTTTTGTTTGGATTCATTACGTCTTCATGGAATAAGGGTTTATGTCCTTTTTACTTAAATTCATAAAATAAAATAAAAATTAAAATAGGAGGAGGAAGAGTTAGGTACCCTTAGTAGTTTAAAGATTTGCTTCATTAACCCTTCTTTAGAGGGCCAGGGCTTTTTTGAAAAGCATGTTCCTTTTATCACAGTGGTTCTGAGGATGAGTTATTATTATTCTCTGCCCTAGCCAAATTTGTGAAGAAGTTGGAGCAATTGGATGAAAATGGTGGATATTCTTTCGGTCATTAACTTAATAAAAAGCTTACTGAAAGAAGGAGATAAGAGCCTGGACTCAGATATTAAGGGAATATTTTTCCCTGCAAATAAATGAATGAACAAATGCTAATACTTTACATGAAAAATAGCATGAAGCCTTATTTTGAAATATGTTTAAAAGTAAACATGAAGTATTCATAGCAGAGATTTCTGAAATTTAGGGCTGGGGCTTTCGGGAGCTCTGTAGTGTGGGCCTTCCCTAGCTCTGCATCAAGGAGCTGGAGGCCATGATGGGTTGTGAGATGATACTAGAGGAAGGCATGGTCTGGGAGCGTGCAGGCGGCAGTGGGATGGATGTCACATCTTGAAACATATGTTCAGGGCCTGCTAAAAGTAGTTTTGAAAATTAGTCTTTTCTCACCACAGTTATTAAAACTATCTTGCATGTGGATGAATATGTAATTTGGATGAGTGAAGGAGCACTAATGAGCACCAACAGTTTTAATGCTAAAGAGAATAGGCTCTAAGGTCTCTTTGTAGCCTTTTTTTTTTTTTTGAGTCTTGCTCTGTTGCCCAGGTCGGAGTGCAGTGGCATGATCTTGGCTCCTCCACCTCTTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGCAAGCACGCCTGCTGATTTTTGTATTTTTACACAGGGCTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGGGCCACCATGCCCAGCCCCACTGACCCTTTTTTTGAGCCCCTTATGCTTTCATGTATGAGAGCTGAATGTGGGCAGAAGTGGGACAGATGCAGAAGGAAAATGACAGATTTTCTTCTGTTTCTAAGCTTATGTGTCTATTTTAAAAGCTTGAAGTAATCCAATACTTGATGTTTAAAAATTGTGATTATGACAGCTAGATAGTGCTGTAAATTTGAAAGACCCACCTTATCTAGCAGTGAATTTGACCATTTAATTTGGTTCATACCCTGTTCTTCCAGTTCTGTCCTCTTTAAAGTCAAGTACCTTACTAATTAACTCATTGTTGAAGTTACTGTTTGACAAAATGACAGAATCGTGTTTTCTTTTTATAGTAGGAAAACCTGAAATGTGGGAAGATGACCATAAAGCGGTCTTAGTTTAACTGCCTGTATGGATTAATTTATTTGATTATTCCACAACTTTCTTTATCTTTGAAGTAACACCCCTCACCCTCCTTTCTGTGTGTAGGATCAACCAATGGGAGGCTGGGAGATGATCAGAAAAATTGGAGACACATCAGTCAGTTATAAATATACCTCAAGATATGTGCTGAAGGCAGGCCAGACTGTTACAGTAAGTGAATCTAGTCATCATTTAATTTAACTTCATTGTGTTAACTAACAAAGTAACTCAAAAAGTTTTTTGGCTAAAAGAGAAGCATTTTAGAAATGGCCGTTAAAGTACTTTTTATATTATTAGGGCATTACAAGTGCTATAAAAGATTTTTAAAATTCTGTCTTATTGAGAGTAGTGAAGAATGGACCTTTGAATTATTTTTATCTTGTCTATTCCAGTAGATATAAAAGCTATCTCTAGGCTGATACTTATAGCCCAGTGTCATTCAGGAGACACTGCTTGGCATAAAGAACTGTTAAGAATTTAGCATTAACATATGCCTAAAACAGCAATCTCTAGCCTTGGGTGAGCTTCAGAATCATTTGGGTAGTATTTTGGTGTTCAGGCCCTACTTCACCCTTTGCTATCTTTAGGGTTGGGGTAGGAGCCTAGGTTTTGAATAAAAGTCCTTAGATTATAGGCACCCTTGTAAATTTTCACTAATTGGCATTCTGTGTCTTGATTTCTAAATGGCTCTCTATTGGTATGTTCTGAAATACTACATCTTTAATAGTTA	G	A126814260T	LMNB1	NM_005573.4(LMNB1):c.939+2362_1491+560del	noncoding	Pathogenic
5	126820839	GT	G	T126820853A	LMNB1	NM_005573.4(LMNB1):c.1161-57del	noncoding	Benign
5	126832871	TG	T	G126832873T	LMNB1	NM_005573.4(LMNB1):c.1719+72del	noncoding	Benign
5	127299745	GT	G	T127299758A	MEGF10	NM_001256545.2(MEGF10):c.-19+8702del	noncoding	Benign
5	127402579	CG	C	G127402580C	MEGF10	NM_001256545.2(MEGF10):c.815del:p.Arg272fs	coding	Pathogenic
5	127418840	G	GT	G127418843T	MEGF10	NM_001256545.2(MEGF10):c.1306-278dup	noncoding	Benign
5	127420133	GCCTGCAACACC	G	C127420135T	MEGF10	NM_001256545.2(MEGF10):c.1518_1528del:p.Cys507fs	coding	Pathogenic
5	127434912	CATGTTTTCAGCTGTCTGCTGGGA	C	T127434917C	MEGF10	NM_001256545.2(MEGF10):c.1975+96_1975+118del	noncoding	Benign
5	127435641	CT	C	T127435652C	MEGF10	NM_001256545.2(MEGF10):c.2104+163del	noncoding	Benign
5	127440791	A	AAACGGAGCTG	C127440803A	MEGF10	NM_001256545.2(MEGF10):c.2288_2297dup:p.Asp766delinsGluArgSerTer	coding	Pathogenic
5	127443035	GAT	G	A127443038G	MEGF10	NM_001256545.2(MEGF10):c.2403_2404del:p.Ile801fs	coding	Pathogenic
5	127448790	C	CT	C127448808T	MEGF10	NM_001256545.2(MEGF10):c.2857-292dup	noncoding	Benign
5	127448790	CT	C	T127448807C	MEGF10	NM_001256545.2(MEGF10):c.2857-292del	noncoding	Benign
5	127455468	CA	C	A127455469C	MEGF10	NM_001256545.2(MEGF10):c.3094del:p.Thr1032fs	coding	Pathogenic
5	128083706	A	AGCCGCC	A128083721C	SLC12A2	Single_allele	noncoding	Benign
5	128084239	TGCGGCG	T	G128084257A	SLC12A2	NM_001046.3(SLC12A2):c.288GGC[5]:p.Ala106_Ala107del	coding	Benign
5	128084245	GGCGGCGGCGGCGGCGGCA	G	G128084257T	SLC12A2	NM_001046.3(SLC12A2):c.303_320del:p.Ala102_Ala107del	coding	Benign
5	128112949	CTT	C	T128112950A	SLC12A2	NM_001046.3(SLC12A2):c.876+17_876+18del	noncoding	Benign
5	128147908	G	GTTTA	A128147914T	SLC12A2	NM_001046.3(SLC12A2):c.1881+181_1881+184dup	noncoding	Benign
5	128151556	GT	G	T128151568C	SLC12A2	NM_001046.3(SLC12A2):c.2263+172del	noncoding	Benign
5	128168087	TAC	T	C128168101T	SLC12A2	NM_001046.3(SLC12A2):c.2723+221AC[6]	noncoding	Benign
5	128174422	TAAG	T	A128174426C	SLC12A2	NM_001046.3(SLC12A2):c.2804-115_2804-113del	noncoding	Benign
5	128186461	G	GT	C128186474T	SLC12A2	NM_001046.3(SLC12A2):c.3504-23dup	noncoding	Benign
5	128286917	G	GT	G128286919T	FBN2	NM_001999.4(FBN2):c.6881-69dup	noncoding	Benign
5	128302883	A	AT	G128302893T	FBN2	NM_001999.4(FBN2):c.5917+81dup	noncoding	Benign
5	128305093	A	AC	A128305094C	FBN2	NM_001999.4(FBN2):c.5675-12_5675-11insG	noncoding	Benign/Likely_benign
5	128310362	GCA	G	C128310365T	FBN2	NM_001999.4(FBN2):c.5075-256_5075-255del	noncoding	Benign
5	128310386	ATATATATATATATATATTTTT	A	A128310388T	FBN2	NM_001999.4(FBN2):c.5075-299_5075-279del	noncoding	Benign
5	128311167	GA	G	A128311179G	FBN2	NM_001999.4(FBN2):c.5074+132del	noncoding	Benign
5	128318875	ATACCTG	A	C128318879A	FBN2	NM_001999.4(FBN2):c.4592_4594+3del	noncoding	Pathogenic
5	128319012	TA	T	A128319020G	FBN2	NM_001999.4(FBN2):c.4472-12del	noncoding	Benign/Likely_benign
5	128361588	AT	A	T128361590A	FBN2	NM_001999.4(FBN2):c.2554+134del	noncoding	Benign
5	128366134	AGTTT	A	T128366138A	FBN2	NM_001999.4(FBN2):c.2302+239_2302+242del	noncoding	Benign
5	128366251	ATAAT	A	T128366256C	FBN2	NM_001999.4(FBN2):c.2302+122_2302+125del	noncoding	Benign
5	128377550	CA	C	A128377562C	FBN2	NM_001999.4(FBN2):c.1849+201del	noncoding	Benign
5	128378008	G	GT	G128378026T	FBN2	NM_001999.4(FBN2):c.1724-148dup	noncoding	Benign
5	128378008	G	GTTT	G128378026T	FBN2	NM_001999.4(FBN2):c.1724-148_1724-146dup	noncoding	Benign
5	128519459	GTTAAA	G	A128519463T	FBN2	NM_001999.4(FBN2):c.533-96_533-92del	noncoding	Benign
5	128537200	T	TG	T128537206G	FBN2	NM_001999.4(FBN2):c.254+145dup	noncoding	Benign
5	128966589	G	GAGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGTTTACAC	T128966590A	SLC27A6	NM_001017372.3(SLC27A6):c.452_453insAGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGTTTACAC:p.Cys151Ter	coding	Pathogenic
5	131159535	AC	A	C131159537A	HINT1	NM_005340.7(HINT1):c.292del:p.Val97_Val98insTer	coding	Pathogenic
5	131162630	AG	A	G131162631A	HINT1	NM_005340.7(HINT1):c.157del:p.Leu53fs	coding	Pathogenic
5	131165106	CA	C	A131165111T	HINT1	NM_005340.7(HINT1):c.99del:p.Phe33fs	coding	Pathogenic
5	131165597	G	GATT	T131165604A	HINT1	Single_allele	noncoding	Benign
5	131171208	TTG	T	T131171211C	LYRM7	NM_181705.4(LYRM7):c.18+173_18+174del	noncoding	Benign
5	131180382	C	CA	G131180392A	LYRM7	NM_181705.4(LYRM7):c.91+224dup	noncoding	Benign
5	131199511	C	CT	C131199524T	LYRM7	NM_181705.4(LYRM7):c.245-8dup	noncoding	Benign
5	131199511	CT	C	T131199523C	LYRM7	NM_181705.4(LYRM7):c.245-8del	noncoding	Benign
5	131651889	CA	C	A131651891T	FNIP1	NM_133372.3(FNIP1):c.3218del:p.Leu1073fs	coding	Pathogenic
5	131679088	GT	G	T131679089G	FNIP1	NM_133372.3(FNIP1):c.1289del:p.His430fs	coding	Pathogenic
5	132217735	T	TA	T132217736A	P4HA2	NM_001017974.2(P4HA2):c.179+16_179+17insT	noncoding	Benign
5	132369975	G	GC	G132369977C	SLC22A5	NM_003060.4(SLC22A5):c.4dup:p.Arg2fs	coding	Pathogenic
5	132370039	TTCC	T	C132370041G	SLC22A5	NM_003060.4(SLC22A5):c.69_71del:p.Phe23del	coding	Pathogenic
5	132378431	CT	C	T132378433C	SLC22A5	NM_003060.4(SLC22A5):c.449del:p.Phe150fs	coding	Pathogenic
5	132378474	TCAGA	T	A132378478G	SLC22A5	NM_003060.4(SLC22A5):c.494_497del:p.Asp165fs	coding	Pathogenic
5	132378652	A	AATC	T132378656A	SLC22A5	NM_003060.4(SLC22A5):c.497+172_497+174dup	noncoding	Benign
5	132384234	GTT	G	T132384236G	SLC22A5	NM_003060.4(SLC22A5):c.587_588del:p.Phe196fs	coding	Pathogenic
5	132385472	CG	C	G132385477T	SLC22A5	NM_003060.4(SLC22A5):c.802del:p.Val268fs	coding	Pathogenic
5	132387038	T	TC	G132387045C	SLC22A5	NM_003060.4(SLC22A5):c.844dup:p.Arg282fs	coding	Pathogenic
5	132387059	CAG	C	A132387060G	SLC22A5	NM_003060.4(SLC22A5):c.860_861del:p.Gln287fs	coding	Pathogenic
5	132388914	CCTGCAGTTA	C	T132388916A	SLC22A5	NM_003060.4(SLC22A5):c.952-5_955del	noncoding	Pathogenic/Likely_pathogenic
5	132390718	CT	C	T132390721C	SLC22A5	NM_003060.4(SLC22A5):c.1084del:p.Ser362fs	coding	Pathogenic/Likely_pathogenic
5	132390875	TC	T	C132390877T	SLC22A5	NM_003060.4(SLC22A5):c.1240del:p.Leu414fs	coding	Pathogenic
5	132390886	A	AT	G132390888T	SLC22A5	NM_003060.4(SLC22A5):c.1250dup:p.Met417fs	coding	Pathogenic/Likely_pathogenic
5	132392453	GT	G	T132392454C	SLC22A5	NM_003060.4(SLC22A5):c.1289del:p.Val430fs	coding	Pathogenic
5	132392514	CA	C	A132392515G	SLC22A5	NM_003060.4(SLC22A5):c.1350del:p.Ala451fs	coding	Pathogenic
5	132557337	GA	G	A132557341G	RAD50	NM_005732.4(RAD50):c.17del:p.Lys6fs	coding	Pathogenic
5	132557385	G	GA	T132557387A	RAD50	NM_005732.4(RAD50):c.62dup:p.Asp21fs	coding	Pathogenic
5	132557452	C	CT	G132557453T	RAD50	NM_005732.4(RAD50):c.128_129insT:p.Thr44fs	coding	Pathogenic
5	132559295	A	AT	G132559297T	RAD50	NM_005732.4(RAD50):c.142dup:p.Cys48fs	coding	Pathogenic
5	132559346	T	TA	C132559348A	RAD50	NM_005732.4(RAD50):c.193dup:p.Thr65fs	coding	Pathogenic/Likely_pathogenic
5	132559361	TC	T	C132559364A	RAD50	NM_005732.4(RAD50):c.210del:p.Lys71fs	coding	Pathogenic
5	132575887	GAC	G	C132575889G	RAD50	NM_005732.4(RAD50):c.326_327del:p.Thr109fs	coding	Pathogenic
5	132575889	CAG	C	G132575891A	RAD50	NM_005732.4(RAD50):c.328_329del:p.Glu110fs	coding	Pathogenic
5	132579379	CT	C	T132579380C	RAD50	NM_005732.4(RAD50):c.429del:p.Val146fs	coding	Pathogenic
5	132579418	TC	T	C132579419T	RAD50	NM_005732.4(RAD50):c.468del:p.Cys157fs	coding	Pathogenic
5	132579424	ATCAAGAAG	A	T132579425A	RAD50	NM_005732.4(RAD50):c.474_481del:p.His158fs	coding	Pathogenic
5	132579445	CT	C	T132579448A	RAD50	NM_005732.4(RAD50):c.497del:p.Pro165_Leu166insTer	coding	Pathogenic
5	132579501	A	AG	T132579504G	RAD50	NM_005732.4(RAD50):c.551+1dup	coding	Pathogenic
5	132579907	AG	A	G132579909T	RAD50	NM_005732.4(RAD50):c.599del:p.Gly200fs	coding	Pathogenic
5	132580056	AT	A	T132580057C	RAD50	NM_005732.4(RAD50):c.747del:p.Pro250fs	coding	Pathogenic
5	132587587	ATC	A	C132587593A	RAD50	NM_005732.4(RAD50):c.788_789del:p.Leu262_Ser263insTer	coding	Pathogenic
5	132587616	GAAATT	G	T132587620G	RAD50	NM_005732.4(RAD50):c.815_819del:p.Ile272fs	coding	Pathogenic
5	132587637	CG	C	G132587638A	RAD50	NM_005732.4(RAD50):c.833del:p.Arg278fs	coding	Pathogenic
5	132587678	GA	G	A132587682T	RAD50	NM_005732.4(RAD50):c.877del:p.Met293fs	coding	Pathogenic
5	132587956	CTT	C	T132587957A	RAD50	NM_005732.4(RAD50):c.919_920del:p.Leu307fs	coding	Pathogenic
5	132587958	T	TA	T132587960A	RAD50	NM_005732.4(RAD50):c.921dup:p.Tyr308fs	coding	Pathogenic
5	132588053	CTCAA	C	A132588057G	RAD50	NM_005732.4(RAD50):c.1019_1022del:p.Asn340fs	coding	Pathogenic
5	132588671	A	AT	A132588682T	RAD50	NM_005732.4(RAD50):c.1052-6dup	noncoding	Benign
5	132588671	AT	A	T132588681A	RAD50	NM_005732.4(RAD50):c.1052-6del	noncoding	Benign
5	132588792	GAC	G	A132588793C	RAD50	NM_005732.4(RAD50):c.1158_1159del:p.Pro387fs	coding	Pathogenic
5	132588868	CA	C	A132588870C	RAD50	NM_005732.4(RAD50):c.1235del:p.Asn412fs	coding	Pathogenic
5	132589647	AAG	A	G132589651C	RAD50	NM_005732.4(RAD50):c.1266_1267del:p.Glu422fs	coding	Pathogenic
5	132589667	CAG	C	G132589669T	RAD50	NM_005732.4(RAD50):c.1284_1285del:p.Gln428fs	coding	Pathogenic
5	132589712	A	ATTAAG	G132589715A	RAD50	NM_005732.4(RAD50):c.1329_1330insAAGTT:p.Glu444fs	coding	Pathogenic
5	132589754	CT	C	T132589755G	RAD50	NM_005732.4(RAD50):c.1370del:p.Leu457fs	coding	Pathogenic
5	132589780	GC	TT	G132589780T	RAD50	NM_005732.4(RAD50):c.1395_1396delinsTT:p.Gln465_Gln466delinsHisTer	coding	Pathogenic
5	132589791	G	GA	T132589793A	RAD50	NM_005732.4(RAD50):c.1407dup:p.Ser470fs	coding	Pathogenic
5	132589800	ACAGGATTCTTGAACTGGAC	A	T132589806G	RAD50	NM_005732.4(RAD50):c.1421_1439del:p.Ile474fs	coding	Pathogenic
5	132591086	GT	G	T132591093C	RAD50	NM_005732.4(RAD50):c.1453-131del	noncoding	Benign
5	132591270	TA	T	A132591275T	RAD50	NM_005732.4(RAD50):c.1504del:p.Met502fs	coding	Pathogenic
5	132591858	A	AT	A132591869T	RAD50	NM_005732.4(RAD50):c.1636-9dup	noncoding	Benign
5	132591858	A	ATT	A132591869T	RAD50	NM_005732.4(RAD50):c.1636-10_1636-9dup	noncoding	Benign
5	132591939	G	GTTGGGATA	T132591950G	RAD50	NM_005732.4(RAD50):c.1701_1708dup:p.Phe570fs	coding	Pathogenic
5	132594917	AC	A	C132594918T	RAD50	NM_005732.4(RAD50):c.1843del:p.Glu614_Leu615insTer	coding	Pathogenic
5	132595001	AG	A	G132595002A	RAD50	NM_005732.4(RAD50):c.1927del:p.Asp643fs	coding	Pathogenic
5	132595008	C	CTT	A132595011T	RAD50	NM_005732.4(RAD50):c.1934_1935dup:p.Lys646fs	coding	Pathogenic
5	132595633	AC	A	C132595635A	RAD50	NM_005732.4(RAD50):c.2032del:p.Gln678fs	coding	Pathogenic
5	132595667	TCAGA	T	C132595672G	RAD50	NM_005732.4(RAD50):c.2069_2072del:p.Thr690fs	coding	Pathogenic
5	132595683	T	TTACA	A132595688T	RAD50	NM_005732.4(RAD50):c.2081_2084dup:p.Gln695fs	coding	Pathogenic
5	132595696	T	TCAGTGATTTGCAGTCTAAA	T132595717A	RAD50	NM_005732.4(RAD50):c.2095_2113dup:p.Leu705delinsGlnTer	coding	Pathogenic/Likely_pathogenic
5	132595707	CA	C	A132595708G	RAD50	NM_005732.4(RAD50):c.2105del:p.Gln702fs	coding	Pathogenic
5	132603318	GA	AT	G132603318A	RAD50	NM_005732.4(RAD50):c.2226_2227delinsAT:p.Lys743Ter	coding	Pathogenic
5	132603324	GA	G	A132603326G	RAD50	NM_005732.4(RAD50):c.2234del:p.Lys745fs	coding	Pathogenic
5	132603344	GAAAC	G	A132603349T	RAD50	NM_005732.4(RAD50):c.2257_2260del:p.Lys753fs	coding	Pathogenic
5	132603387	G	GAACGA	C132603393A	RAD50	NM_005732.4(RAD50):c.2296_2300dup:p.Asp767fs	coding	Pathogenic
5	132603432	TG	T	G132603433A	RAD50	NM_005732.4(RAD50):c.2341del:p.Glu781fs	coding	Pathogenic
5	132603461	CAG	C	G132603463T	RAD50	NM_005732.4(RAD50):c.2371_2372del:p.Asp791fs	coding	Pathogenic
5	132604813	T	TAAGATTGAATTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A132604827G	RAD50	NM_005732.4(RAD50):c.2545_2546insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTGAATTGA:p.Asn849delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerArgAspArgAspHisProGlyTer	coding	Pathogenic
5	132604890	TA	T	A132604894T	RAD50	NM_005732.4(RAD50):c.2613del:p.Lys871fs	coding	Pathogenic
5	132604920	ATT	A	T132604922G	RAD50	NM_005732.4(RAD50):c.2641_2642del:p.Leu881fs	coding	Pathogenic
5	132604953	CTG	C	T132604956G	RAD50	NM_005732.4(RAD50):c.2675_2676del:p.Val892fs	coding	Pathogenic
5	132604964	T	TC	A132604967C	RAD50	NM_005732.4(RAD50):c.2685dup:p.Thr896fs	coding	Pathogenic
5	132605018	GT	G	T132605024G	RAD50	NM_005732.4(RAD50):c.2718+25del	noncoding	Benign
5	132608598	CT	C	T132608604A	RAD50	NM_005732.4(RAD50):c.2719-11del	noncoding	Benign
5	132608607	A	AT	A132608613T	RAD50	NM_005732.4(RAD50):c.2719-3dup	noncoding	Benign
5	132608607	AT	A	T132608612A	RAD50	NM_005732.4(RAD50):c.2719-3del	noncoding	Benign
5	132608661	TC	T	C132608663A	RAD50	NM_005732.4(RAD50):c.2767del:p.Gln923fs	coding	Pathogenic
5	132608678	GA	G	A132608680T	RAD50	NM_005732.4(RAD50):c.2784del:p.Glu928fs	coding	Pathogenic
5	132609124	A	ATATT	A132609129T	RAD50	NM_005732.4(RAD50):c.2838_2841dup:p.Lys948delinsTyrTer	coding	Pathogenic
5	132609140	T	TAAAAATATTCATGGCGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T132609156G	RAD50	NM_005732.4(RAD50):c.2868_2869insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATATTCATGGC:p.Gly956_Tyr957insGluLeuAlaValSerArgAspCysAlaThrAlaValArgSerProAlaTrpAlaThrGluArgAspSerValSerLysLysLysLysLysLysLysLysXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleHisGly	coding	Pathogenic
5	132609152	T	TG	C132609155G	RAD50	NM_005732.4(RAD50):c.2867dup:p.Tyr957fs	coding	Pathogenic
5	132609283	CA	C	A132609288G	RAD50	NM_005732.4(RAD50):c.2928del:p.Glu977fs	coding	Pathogenic
5	132609298	C	CT	A132609301T	RAD50	NM_005732.4(RAD50):c.2940dup:p.Asn981Ter	coding	Pathogenic
5	132609304	AAAGT	A	G132609307T	RAD50	NM_005732.4(RAD50):c.2947_2950del:p.Lys982_Val983insTer	coding	Pathogenic
5	132609304	A	ATT	A132609305T	RAD50	NM_005732.4(RAD50):c.2944_2945insTT:p.Lys982fs	coding	Pathogenic
5	132616018	C	CT	A132616020T	RAD50	NM_005732.4(RAD50):c.3053dup:p.Gln1019fs	coding	Pathogenic
5	132616044	AAG	A	G132616046A	RAD50	NM_005732.4(RAD50):c.3080_3081del:p.Arg1027fs	coding	Pathogenic
5	132616061	AAG	A	G132616063A	RAD50	NM_005732.4(RAD50):c.3097_3098del:p.Glu1033fs	coding	Pathogenic
5	132616083	AC	A	C132616084A	RAD50	NM_005732.4(RAD50):c.3118del:p.Gln1040fs	coding	Pathogenic
5	132616140	TA	T	A132616144T	RAD50	NM_005732.4(RAD50):c.3164+14del	noncoding	Benign/Likely_benign
5	132618059	CT	C	T132618065A	RAD50	NM_005732.4(RAD50):c.3165-5del	noncoding	Benign
5	132618117	ATAAT	A	A132618119T	RAD50	NM_005732.4(RAD50):c.3214_3217del:p.Asn1072fs	coding	Pathogenic
5	132618169	TAAGAAAGA	T	A132618171C	RAD50	NM_005732.4(RAD50):c.3266_3273del:p.Lys1089fs	coding	Pathogenic
5	132618269	GA	G	A132618270T	RAD50	NM_005732.4(RAD50):c.3365del:p.Asp1122fs	coding	Pathogenic
5	132637182	A	AG	T132637184G	RAD50	NM_005732.4(RAD50):c.3458dup:p.Ser1153fs	coding	Pathogenic
5	132637182	A	AGT	A132637185G	RAD50	NM_005732.4(RAD50):c.3458_3459dup:p.Thr1154fs	coding	Pathogenic
5	132638095	GA	G	A132638098T	RAD50	NM_005732.4(RAD50):c.3493del:p.Ile1165fs	coding	Pathogenic
5	132638485	AC	A	C132638488G	RAD50	NM_005732.4(RAD50):c.3618+265del	noncoding	Benign
5	132640661	C	CT	C132640668T	RAD50	NM_005732.4(RAD50):c.3619-5dup	noncoding	Benign/Likely_benign
5	132640699	G	GC	T132640703C	RAD50	NM_005732.4(RAD50):c.3649dup:p.Leu1217fs	coding	Pathogenic
5	132640722	CA	C	A132640724C	RAD50	NM_005732.4(RAD50):c.3671del:p.Asn1224fs	coding	Pathogenic
5	132640761	TCTTGA	T	T132640763C	RAD50	NM_005732.4(RAD50):c.3710_3714del:p.Leu1237fs	coding	Pathogenic
5	132642183	TA	T	A132642188G	RAD50	NM_005732.4(RAD50):c.3763del:p.Ser1255fs	coding	Pathogenic
5	132885249	CGT	C	G132885276A	AFF4	NM_014423.4(AFF4):c.3100-158AC[13]	noncoding	Benign
5	132885249	CGTGT	C	G132885274A	AFF4	NM_014423.4(AFF4):c.3100-158AC[12]	noncoding	Benign
5	132885249	CGTGTGT	C	G132885272A	AFF4	NM_014423.4(AFF4):c.3100-158AC[11]	noncoding	Benign
5	132898460	C	CG	A132898462G	AFF4	NM_014423.4(AFF4):c.1227-69dup	noncoding	Benign
5	132904352	GGAAA	G	G132904357T	AFF4	NM_014423.4(AFF4):c.1087+12_1087+15del	noncoding	Benign
5	132932158	A	AT	A132932167T	AFF4	NM_014423.4(AFF4):c.963+12dup	noncoding	Benign
5	134199222	CA	C	A134199227T	PPP2CA	NM_002715.4(PPP2CA):c.739-19del	noncoding	Benign
5	134201002	GT	G	T134201003A	PPP2CA	NM_002715.4(PPP2CA):c.558del:p.Gln187fs	coding	Pathogenic
5	134201932	TA	T	A134201935C	PPP2CA	NM_002715.4(PPP2CA):c.401del:p.Cys133_Leu134insTer	coding	Pathogenic
5	134225785	GAC	G	A134225786T	PPP2CA	NM_002715.4(PPP2CA):c.75_76del:p.Glu25fs	coding	Pathogenic
5	134225806	T	TCGTTC	A134225812C	PPP2CA	NM_002715.4(PPP2CA):c.51_55dup:p.Glu19fs	coding	Pathogenic
5	134608353	AT	A	T134608369A	SAR1B	NM_016103.4(SAR1B):c.480+18del	noncoding	Benign
5	134609679	CA	C	A134609684C	SAR1B	NM_016103.4(SAR1B):c.245-6del	noncoding	Benign
5	134621026	CCA	C	C134621027G	SAR1B	NM_016103.4(SAR1B):c.83_84del:p.Leu28fs	coding	Pathogenic
5	134887800	G	GC	A134887803C	TXNDC15	NM_024715.4(TXNDC15):c.211dup:p.Gln71fs	coding	Pathogenic
5	134893571	CCAGTTTGGCCCCTCA	C	A134893573T	TXNDC15	NM_024715.4(TXNDC15):c.673_687del:p.Ser225_His229del	coding	Pathogenic/Likely_pathogenic
5	134899557	A	AT	A134899559T	TXNDC15	NM_024715.4(TXNDC15):c.956dup:p.Ser321fs	coding	Pathogenic
5	135028716	TCCGCGC	T	G135028731T	PITX1	NM_002653.5(PITX1):c.*45GCGCGG[2]	noncoding	Benign
5	135034150	CCCGGCT	C	C135034170G	PITX1	NM_002653.5(PITX1):c.-293AGCCGG[3]	noncoding	Benign
5	136056734	CTTT	C	T136056735G	TGFBI	NM_000358.3(TGFBI):c.1618_1620del:p.Phe540del	coding	Pathogenic
5	137628691	T	TTA	A137628692T	KLHL3	NM_017415.3(KLHL3):c.1451-255_1451-254insTA	noncoding	Benign
5	137628697	ATAT	A	T137628698A	KLHL3	NM_017415.3(KLHL3):c.1451-263_1451-261del	noncoding	Benign
5	137628712	TACAC	T	C137628720G	KLHL3	NM_017415.3(KLHL3):c.1451-285GT[3]	noncoding	Benign
5	137628716	CACACACAG	C	C137628720G	KLHL3	NM_017415.3(KLHL3):c.1451-287_1451-280del	noncoding	Benign
5	137628720	CACAG	C	G137628732T	KLHL3	NM_017415.3(KLHL3):c.1451-295CTGT[2]	noncoding	Benign
5	137639711	C	CAA	G137639727A	KLHL3	NM_017415.3(KLHL3):c.1021+134_1021+135dup	noncoding	Benign
5	137639711	C	CA	G137639727A	KLHL3	NM_017415.3(KLHL3):c.1021+134dup	noncoding	Benign
5	137662087	AC	A	C137662090T	KLHL3	NM_017415.3(KLHL3):c.637-57del	noncoding	Benign
5	137662114	A	AAAAG	G137662116A	KLHL3	NM_017415.3(KLHL3):c.637-84_637-83insTCTT	noncoding	Benign
5	137662114	A	AAAG	G137662116A	KLHL3	NM_017415.3(KLHL3):c.637-84_637-83insTCT	noncoding	Benign
5	137662114	A	AAG	A137662126G	KLHL3	NM_017415.3(KLHL3):c.637-93CT[6]	noncoding	Benign
5	137662240	TACACACAC	T	C137662278A	KLHL3	NM_017415.3(KLHL3):c.637-253GT[18]	noncoding	Benign
5	137662240	TACACAC	T	C137662280A	KLHL3	NM_017415.3(KLHL3):c.637-253GT[19]	noncoding	Benign
5	137662240	TACAC	T	C137662282A	KLHL3	NM_017415.3(KLHL3):c.637-253GT[20]	noncoding	Benign
5	137662240	TAC	T	C137662284A	KLHL3	NM_017415.3(KLHL3):c.637-253GT[21]	noncoding	Benign
5	137662240	T	TAC	A137662286C	KLHL3	NM_017415.3(KLHL3):c.637-253GT[23]	noncoding	Benign
5	137870288	G	GAC	A137870328C	MYOT	NM_006790.3(MYOT):c.-211-152AC[20]	noncoding	Benign
5	137870288	G	GACAC	A137870328C	MYOT	NM_006790.3(MYOT):c.-211-152AC[21]	noncoding	Benign
5	137870288	G	GACACAC	A137870328C	MYOT	NM_006790.3(MYOT):c.-211-152AC[22]	noncoding	Benign
5	137870288	G	GACACACAC	A137870328C	MYOT	NM_006790.3(MYOT):c.-211-152AC[23]	noncoding	Benign
5	137877367	CA	C	A137877391T	MYOT	NM_006790.3(MYOT):c.532-129del	noncoding	Benign
5	137877367	C	CA	T137877392A	MYOT	NM_006790.3(MYOT):c.532-129dup	noncoding	Benign
5	138128499	AT	A	T138128502C	NME5	NM_003551.3(NME5):c.415del:p.Ile139fs	coding	Pathogenic
5	138183593	G	GT	A138183595T	KIF20A	NM_005733.3(KIF20A):c.1139+13dup	noncoding	Benign
5	138185175	GT	G	T138185180A	KIF20A	NM_005733.3(KIF20A):c.1909del:p.Tyr637fs	coding	Pathogenic
5	138567179	GA	G	A138567189G	HSPA9	NM_004134.7(HSPA9):c.717-17del	noncoding	Benign
5	138783364	GA	G	A138783368C	CTNNA1	NM_001903.5(CTNNA1):c.297del:p.Lys99fs	coding	Pathogenic
5	138809742	C	CT	A138809753T	CTNNA1	NM_001903.5(CTNNA1):c.302-286dup	noncoding	Benign
5	138827698	CT	C	T138827701C	CTNNA1	NM_001903.5(CTNNA1):c.1045del:p.Ser349fs	coding	Pathogenic
5	138887552	G	GCC	G138887553C	CTNNA1	NM_001903.5(CTNNA1):c.1206_1207insCC:p.Val403fs	coding	Pathogenic
5	138917531	TTTTA	T	A138917535G	CTNNA1	NM_001903.5(CTNNA1):c.1390-207_1390-204del	noncoding	Benign
5	138917878	A	AC	T138917879C	CTNNA1	NM_001903.5(CTNNA1):c.1526_1527insC:p.Asp509_Asp510insTer	coding	Pathogenic
5	138917912	TC	T	C138917916A	CTNNA1	NM_001903.5(CTNNA1):c.1546+18del	noncoding	Benign
5	138924282	G	GT	A138924296T	CTNNA1	NM_001903.5(CTNNA1):c.1547-215dup	noncoding	Benign
5	138924282	G	GTT	A138924296T	CTNNA1	NM_001903.5(CTNNA1):c.1547-216_1547-215dup	noncoding	Benign
5	138924295	TA	T	A138924300C	CTNNA1	NM_001903.5(CTNNA1):c.1547-210del	noncoding	Benign
5	138924300	AC	A	C138924302T	CTNNA1	NM_001903.5(CTNNA1):c.1547-208del	noncoding	Benign
5	138929373	TG	T	G138929377C	CTNNA1	NM_001903.5(CTNNA1):c.2010+21del	noncoding	Benign
5	138929373	T	TG	C138929378G	CTNNA1	NM_001903.5(CTNNA1):c.2010+21dup	noncoding	Benign
5	138930500	CA	C	A138930505G	CTNNA1	NM_001903.5(CTNNA1):c.2043del:p.Ala682fs	coding	Pathogenic
5	138933963	GA	G	A138933968G	CTNNA1	NM_001903.5(CTNNA1):c.2600del:p.Lys867fs	coding	Pathogenic
5	138947385	AG	A	G138947387C	SIL1	NM_022464.5(SIL1):c.1117del:p.Leu373fs	coding	Pathogenic
5	139127502	TATC	T	C139127514A	SIL1	NM_022464.5(SIL1):c.105+225GAT[3]	noncoding	Benign
5	139322520	GT	G	T139322525C	MATR3	NM_018834.6(MATR3):c.1778+19del	noncoding	Benign
5	139322577	GGT	G	G139322582C	MATR3	NM_018834.6(MATR3):c.1779-20GT[2]	noncoding	Benign
5	139323220	T	TTGA	A139323221T	MATR3	NM_018834.6(MATR3):c.2148+253_2148+254insTGA	noncoding	Benign
5	139326422	C	CT	A139326439T	MATR3	NM_018834.6(MATR3):c.2493+154dup	noncoding	Benign
5	139329329	TTC	T	C139329333T	MATR3	NM_018834.6(MATR3):c.2494-12_2494-11del	noncoding	Benign
5	139848480	G	GA	C139848481A	NRG2	NM_004883.3(NRG2):c.1989_1990insT:p.Pro664fs	coding	Pathogenic
5	139848487	CCCGGGT	C	G139848496C	NRG2	NM_004883.3(NRG2):c.1971ACCCGG[1]:p.654PG[6]	coding	Benign
5	140042822	GC	G	C140042823G	NRG2	NM_004883.3(NRG2):c.247del:p.Ala83fs	coding	Pathogenic
5	140042946	CGCT	C	G140042971C	NRG2	NM_004883.3(NRG2):c.97AGC[8]:p.Ser41del	coding	Pathogenic
5	140042979	CGCT	C	C140042996T	NRG2	NM_004883.3(NRG2):c.73AGC[5]:p.Ser30del	coding	Pathogenic
5	140114253	C	CGGCTCG	A140114265G	PURA	NM_005859.5(PURA):c.78_83dup:p.26_27SG[4]	coding	Benign/Likely_benign
5	140114253	CG	C	G140114255C	PURA	NM_005859.5(PURA):c.74del:p.Gly25fs	coding	Pathogenic
5	140114273	GC	G	C140114274G	PURA	NM_005859.5(PURA):c.93del:p.Gly33fs	coding	Pathogenic
5	140114274	C	CG	C140114280G	PURA	NM_005859.5(PURA):c.98dup:p.Gly34fs	coding	Pathogenic
5	140114274	CG	C	G140114279C	PURA	NM_005859.5(PURA):c.98del:p.Gly33fs	coding	Pathogenic
5	140114310	TGGC	T	C140114325G	PURA	NM_005859.5(PURA):c.132CGG[4]:p.Gly49del	coding	Benign/Likely_benign
5	140114349	C	CGA	C140114354G	PURA	NM_005859.5(PURA):c.171_172dup:p.Thr58fs	coding	Pathogenic
5	140114490	C	CA	T140114492A	PURA	NM_005859.5(PURA):c.310dup:p.Met104fs	coding	Pathogenic
5	140114542	T	TA	C140114544A	PURA	NM_005859.5(PURA):c.362dup:p.Tyr121Ter	coding	Pathogenic
5	140114567	C	CG	C140114569G	PURA	NM_005859.5(PURA):c.387dup:p.Pro130fs	coding	Pathogenic
5	140114568	GC	G	C140114570G	PURA	NM_005859.5(PURA):c.389del:p.Pro130fs	coding	Pathogenic
5	140114604	G	GGC	T140114609G	PURA	NM_005859.5(PURA):c.426_427dup:p.Leu143fs	coding	Pathogenic
5	140114681	T	TC	T140114684C	PURA	NM_005859.5(PURA):c.502dup:p.Leu168fs	coding	Pathogenic
5	140114707	C	CGG	C140114713G	PURA	NM_005859.5(PURA):c.530_531dup:p.Pro178fs	coding	Pathogenic
5	140114707	CG	C	G140114712C	PURA	NM_005859.5(PURA):c.531del:p.Pro178fs	coding	Pathogenic
5	140114763	GCTCATCGAGTTCCGTGACGC	G	C140114764T	PURA	NM_005859.5(PURA):c.583_602del:p.Leu195fs	coding	Pathogenic
5	140114808	CG	C	G140114810A	PURA	NM_005859.5(PURA):c.629del:p.Gly210fs	coding	Pathogenic
5	140114826	GGCCGAGCTGCCCGA	G	C140114828G	PURA	NM_005859.5(PURA):c.647_660del:p.Ala216fs	coding	Pathogenic
5	140114895	CA	C	A140114897G	PURA	NM_005859.5(PURA):c.716del:p.Lys239fs	coding	Pathogenic
5	140115169	C	CCA	T140115184C	PURA	NM_005859.5(PURA):c.*20CA[8]	noncoding	Benign
5	140552043	A	AGT	C140552044G	SRA1	NM_001035235.4(SRA1):c.292_293insAC:p.Val98fs	coding	Benign
5	140552043	A	AGTC	C140552044G	SRA1	NM_001035235.4(SRA1):c.292_293insGAC:p.Val98delinsGlyLeu	coding	Benign
5	140552191	AGG	A	G140552192T	SRA1	NM_001035235.4(SRA1):c.152-9_152-8del	noncoding	Benign
5	140557095	ACC	A	C140557107A	SRA1	NM_001035235.4(SRA1):c.151+50_151+51del	noncoding	Benign
5	140557095	ACCC	A	C140557106A	SRA1	NM_001035235.4(SRA1):c.151+49_151+51del	noncoding	Benign
5	140648007	G	GGT	A140648046G	NDUFA2	NM_006083.4(IK):c.16+84GT[20]	noncoding	Benign
5	140648007	G	GGTGT	A140648046G	NDUFA2	NM_006083.4(IK):c.16+84GT[21]	noncoding	Benign
5	140648007	GGTGTGTGT	G	G140648038A	NDUFA2	NM_006083.4(IK):c.16+84GT[15]	noncoding	Benign
5	140648038	GTGTGTGTATGTA	G	G140648042A	NDUFA2	NM_006083.4(IK):c.16+118_16+129del	noncoding	Benign
5	140648040	GTGTGTATGTA	G	G140648044A	NDUFA2	NM_006083.4(IK):c.16+120_16+129del	noncoding	Benign
5	140676561	GC	G	C140676564A	HARS1	NM_002109.6(HARS1):c.1194+92del	noncoding	Benign
5	140677419	AC	A	C140677421T	HARS1	NM_002109.6(HARS1):c.730delG	coding	Pathogenic
5	140690960	AG	A	G140690962C	HARS1	NM_002109.6(HARS1):c.91-17del	noncoding	Benign
5	140693331	CA	C	A140693348T	HARS2	NM_012208.4(HARS2):c.109-243del	noncoding	Benign
5	140695426	C	CAGTTGATAT	G140695429T	HARS2	NM_012208.4(HARS2):c.400-80_400-79insTTGATATAG	noncoding	Benign
5	140696828	C	CT	A140696851T	HARS2	NM_012208.4(HARS2):c.827-93dup	noncoding	Benign
5	141485494	GT	G	T141485497G	PCDHGC4	NM_018928.3(PCDHGC4):c.324del:p.Phe108fs	coding	Pathogenic
5	141527699	T	TAA	C141527723A	DIAPH1	NM_005219.5(DIAPH1):c.3149-25_3149-24dup	noncoding	Benign
5	141527699	T	TA	C141527723A	DIAPH1	NM_005219.5(DIAPH1):c.3149-25dup	noncoding	Benign
5	141573434	CA	C	A141573456G	DIAPH1	NM_005219.5(DIAPH1):c.2358+57del	noncoding	Benign
5	141573434	C	CA	G141573457A	DIAPH1	NM_005219.5(DIAPH1):c.2358+36dup	noncoding	Benign
5	141573741	T	TG	A141573750G	DIAPH1	NM_005219.5(DIAPH1):c.2108dup:p.Pro704fs	coding	Pathogenic
5	141573749	G	GA	T141573752A	DIAPH1	NM_005219.5(DIAPH1):c.2100dup:p.Pro701fs	coding	Pathogenic
5	141575152	G	GA	C141575159A	DIAPH1	NM_005219.5(DIAPH1):c.1462-7dup	noncoding	Benign
5	141578542	CA	C	A141578543T	DIAPH1	NM_005219.5(DIAPH1):c.1016del:p.Met339fs	coding	Pathogenic
5	141579110	C	CT	A141579116T	DIAPH1	NM_005219.5(DIAPH1):c.910dup:p.Ser304fs	coding	Pathogenic
5	141580450	T	TA	G141580462A	DIAPH1	NM_005219.5(DIAPH1):c.824+283dup	noncoding	Benign
5	141584334	TAAGTA	T	G141584337T	DIAPH1	NM_005219.5(DIAPH1):c.301-114_301-110del	noncoding	Benign
5	141584448	C	CT	C141584456T	DIAPH1	NM_005219.5(DIAPH1):c.301-230dup	noncoding	Benign
5	141586761	GT	G	T141586763A	DIAPH1	NM_005219.5(DIAPH1):c.300+280del	noncoding	Benign
5	141587208	G	GA	G141587215A	DIAPH1	NM_005219.5(DIAPH1):c.145-12dup	noncoding	Benign
5	141588473	GA	G	A141588490G	DIAPH1	NM_005219.5(DIAPH1):c.118-224del	noncoding	Benign
5	141588473	G	GA	G141588491A	DIAPH1	NM_005219.5(DIAPH1):c.118-240dup	noncoding	Benign
5	141618806	T	TA	G141618808A	DIAPH1	NM_005219.5(DIAPH1):c.108dup:p.Lys37Ter	coding	Pathogenic
5	141619200	T	TG	T141619210G	DIAPH1	Single_allele	noncoding	Benign
5	141945390	C	CCTGCTGCTGCTG	C141945410T	PCDH12	NM_016580.4(PCDH12):c.3528CAG[10]:p.Ser1178_Ser1181dup	coding	Benign
5	141949774	GAGTA	G	G141949776T	PCDH12	NM_016580.4(PCDH12):c.2979-195_2979-192del	noncoding	Benign
5	141957542	AG	A	G141957545A	PCDH12	NM_016580.4(PCDH12):c.309del:p.Cys104fs	coding	Pathogenic/Likely_pathogenic
5	144164220	GTTT	G	T144164224G	YIPF5	NM_030799.9(YIPF5):c.317_319del:p.Lys106del	coding	Pathogenic
5	146124394	TG	T	G146124395C	LARS1	NM_020117.11(LARS1):c.2992-309del	noncoding	Benign
5	146128484	ACAGCAGCTTTTCCCT	A	G146128490T	LARS1	NM_020117.11(LARS1):c.2880+173_2880+187del	noncoding	Benign
5	146128952	T	TA	C146128964A	LARS1	NM_020117.11(LARS1):c.2769+15dup	noncoding	Benign
5	146129073	TA	CC	T146129073C	LARS1	NM_020117.11(LARS1):c.2673_2674delinsGG:p.Asn892Asp	coding	Benign
5	146129137	C	CA	C146129145A	LARS1	NM_020117.11(LARS1):c.2629-20dup	noncoding	Benign
5	146129704	TTACACAAATA	T	A146129720C	LARS1	NM_020117.11(LARS1):c.2628+304_2628+313del	noncoding	Benign
5	146132804	TA	T	A146132816G	LARS1	NM_020117.11(LARS1):c.2396+93del	noncoding	Benign
5	146132815	AAG	A	G146132817A	LARS1	NM_020117.11(LARS1):c.2396+81_2396+82del	noncoding	Benign
5	146143111	T	TTATATA	G146143127A	LARS1	NM_020117.11(LARS1):c.1878-41TA[10]	noncoding	Benign
5	146153560	G	GA	C146153563A	LARS1	NM_020117.11(LARS1):c.1230+172dup	noncoding	Benign
5	146153669	G	GTTCA	G146153674T	LARS1	NM_020117.11(LARS1):c.1230+61_1230+64dup	noncoding	Benign
5	146160650	A	AATTT	C146160656T	LARS1	NM_020117.11(LARS1):c.595-168_595-165dup	noncoding	Benign
5	146164257	T	TAAAAAAGCACATAC	T146164272A	LARS1	NM_020117.11(LARS1):c.594+39_594+52dup	noncoding	Benign
5	146339164	GA	G	A146339166C	POU4F3	NM_002700.3(POU4F3):c.54del:p.Glu18fs	coding	Pathogenic
5	146339176	TC	T	C146339178A	POU4F3	NM_002700.3(POU4F3):c.66del:p.Ser23fs	coding	Pathogenic
5	146339673	CATGAGCAGCGTGCCCTGCACGTCCACTTCGTCCACCGTGCCCATCTCCCACCCAGCTGCGCTCACCTCACACCCTCACCACGCCGTGCACCAGGGCCTCGAAGGCGACCTGCTGGAGCACATCTCGCCCACGCTGAGTGTGAGCGGCCTGGGCGCTCCGGAACACTCGGTGATGCCCGCACAGATCCATCCACACCACCTGGGCGCCATGGGCCACCTGCACCAGGCCATGGGCATGAGTCACCCGCACACCGTGGCCCCTCATAGCGCCATGCCTGCATGCCTCAGCGACGTGGAGTCAGACCCGCGCGAGCTGGAAGCCTTCGCCGAGCGCTTCAAGCAGCGGCGCATCAAGCTGGGGGTGACCCAGGCGGACGTGGGCGCGGCTCTGGCTAATCTC	GG	C146339673G	POU4F3	NM_002700.3(POU4F3):c.246_645delinsGG:p.Met83fs	coding	Pathogenic
5	146339927	TG	T	G146339929C	POU4F3	NM_002700.3(POU4F3):c.502del:p.Ala168fs	coding	Pathogenic/Likely_pathogenic
5	146455186	CG	C	G146455188C	TCERG1	NM_001382548.1(TCERG1):c.192del:p.Pro65fs	coding	Pathogenic
5	147824771	G	GAAAA	C147824777A	SPINK1	NM_001379610.1(SPINK1):c.195-70_195-67dup	noncoding	Benign
5	148065545	TCACACACA	T	A148065565T	SPINK5	NM_006846.4(SPINK5):c.81+174CA[9]	noncoding	Benign
5	148065545	TCACACA	T	A148065567T	SPINK5	NM_006846.4(SPINK5):c.81+174CA[10]	noncoding	Benign
5	148065554	C	CAA	C148065556A	SPINK5	NM_006846.4(SPINK5):c.81+183_81+184insAA	noncoding	Benign
5	148065561	A	ATG	C148065562T	SPINK5	NM_006846.4(SPINK5):c.81+189_81+190insTG	noncoding	Benign
5	148070772	CA	C	A148070775G	SPINK5	NM_006846.4(SPINK5):c.209+325del	noncoding	Benign
5	148088835	T	TAA	G148088847A	SPINK5	NM_006846.4(SPINK5):c.474+240_474+241dup	noncoding	Benign
5	148088835	T	TA	G148088847A	SPINK5	NM_006846.4(SPINK5):c.474+241dup	noncoding	Benign
5	148095808	C	CT	C148095814T	SPINK5	NM_006846.4(SPINK5):c.795-5dup	noncoding	Benign
5	148095902	TGTG	T	G148095906A	SPINK5	NM_006846.4(SPINK5):c.882+1_882+3del	coding	Pathogenic
5	148095950	G	GT	G148095951T	SPINK5	NM_006846.4(SPINK5):c.882+45_882+46insT	noncoding	Benign
5	148096019	CACT	C	C148096024G	SPINK5	NM_006846.4(SPINK5):c.882+119_882+121del	noncoding	Benign
5	148097788	T	TTTTAA	C148097792A	SPINK5	NM_006846.4(SPINK5):c.883-76_883-75insAATTT	noncoding	Benign
5	148097789	T	TTTAA	C148097792A	SPINK5	NM_006846.4(SPINK5):c.883-76_883-75insAATT	noncoding	Benign
5	148099091	G	GT	G148099094T	SPINK5	NM_006846.4(SPINK5):c.1011-141dup	noncoding	Benign
5	148099495	ACT	A	C148099498G	SPINK5	NM_006846.4(SPINK5):c.1092+183_1092+184del	noncoding	Benign
5	148099501	CAAAAAA	C	A148099514T	SPINK5	NM_006846.4(SPINK5):c.1092+199_1092+204del	noncoding	Benign
5	148099501	CAAA	C	A148099517T	SPINK5	NM_006846.4(SPINK5):c.1092+202_1092+204del	noncoding	Benign
5	148099501	CAA	C	A148099518T	SPINK5	NM_006846.4(SPINK5):c.1092+203_1092+204del	noncoding	Benign
5	148099501	CA	C	A148099519T	SPINK5	NM_006846.4(SPINK5):c.1092+204del	noncoding	Benign
5	148101365	GA	G	A148101367G	SPINK5	NM_006846.4(SPINK5):c.1233del:p.Glu412fs	coding	Pathogenic
5	148101368	GAAGAA	G	G148101376A	SPINK5	NM_006846.4(SPINK5):c.1242_1246del:p.Lys415fs	coding	Pathogenic
5	148104902	GA	G	A148104913T	SPINK5	NM_006846.4(SPINK5):c.1431-39del	noncoding	Benign
5	148107215	CCT	C	C148107216G	SPINK5	NM_006846.4(SPINK5):c.1607+52_1607+53del	noncoding	Benign
5	148107255	CGT	C	T148107257A	SPINK5	NM_006846.4(SPINK5):c.1607+93_1607+94del	noncoding	Benign
5	148109064	CT	C	T148109065G	SPINK5	NM_006846.4(SPINK5):c.1692+228del	noncoding	Benign
5	148114240	G	GA	T148114249A	SPINK5	NM_006846.4(SPINK5):c.1888-114dup	noncoding	Benign
5	148114268	C	CT	C148114270T	SPINK5	NM_006846.4(SPINK5):c.1888-93dup	noncoding	Benign
5	148114268	C	CTTT	C148114270T	SPINK5	NM_006846.4(SPINK5):c.1888-93_1888-92insTTT	noncoding	Benign
5	148114270	C	CT	C148114283T	SPINK5	NM_006846.4(SPINK5):c.1888-80dup	noncoding	Benign
5	148116390	GAA	G	A148116392G	SPINK5	NM_006846.4(SPINK5):c.2038_2039del:p.Lys680fs	coding	Pathogenic
5	148120286	T	TC	A148120293C	SPINK5	NM_006846.4(SPINK5):c.2442-3dup	noncoding	Benign
5	148120322	GA	G	A148120325G	SPINK5	NM_006846.4(SPINK5):c.2472del:p.Glu825fs	coding	Pathogenic
5	148124742	C	CTT	A148124752T	SPINK5	NM_006846.4(SPINK5):c.2667-15_2667-14dup	noncoding	Benign
5	148124748	T	TG	T148124749G	SPINK5	NM_006846.4(SPINK5):c.2667-17_2667-16insG	noncoding	Benign
5	148124751	TA	T	A148124753T	SPINK5	NM_006846.4(SPINK5):c.2667-12del	noncoding	Benign
5	148124752	A	TT	A148124752T	SPINK5	NM_006846.4(SPINK5):c.2667-13delinsTT	noncoding	Benign
5	148127066	CTT	C	T148127068C	SPINK5	NM_006846.4(SPINK5):c.2953_2954del:p.Phe985fs	coding	Pathogenic
5	148405016	C	CA	C148405030A	FBXO38	NM_205836.3(FBXO38):c.730+207dup	noncoding	Benign
5	148406239	A	AT	C148406253T	FBXO38	NM_205836.3(FBXO38):c.731-5dup	noncoding	Benign
5	148406239	A	ATT	C148406253T	FBXO38	NM_205836.3(FBXO38):c.731-6_731-5dup	noncoding	Benign
5	148416134	A	AT	C148416150T	FBXO38	NM_205836.3(FBXO38):c.1407+79dup	noncoding	Benign
5	148416134	A	ATT	C148416150T	FBXO38	NM_205836.3(FBXO38):c.1407+78_1407+79dup	noncoding	Benign
5	148416134	AT	A	T148416149C	FBXO38	NM_205836.3(FBXO38):c.1407+79del	noncoding	Benign
5	148427798	ATGGGAG	A	G148427802C	FBXO38	NM_205836.3(FBXO38):c.2508_2513del:p.837SG[1]	noncoding	Benign
5	148433754	ATAT	A	T148433758A	FBXO38	NM_205836.3(FBXO38):c.2857+21_2857+23del	noncoding	Benign
5	148828096	A	AC	A148828108C	ADRB2	NM_000024.6(ADRB2):c.*34dup	noncoding	Benign
5	148828096	AC	A	C148828107A	ADRB2	NM_000024.6(ADRB2):c.*34del	noncoding	Benign
5	148828098	C	CG	C148828099G	ADRB2	NM_000024.6(ADRB2):c.*25_*26insG	noncoding	Benign
5	148828104	C	CCCG	C148828107G	ADRB2	NM_000024.6(ADRB2):c.*33_*34insGCC	noncoding	Benign
5	148828104	C	CCG	C148828106G	ADRB2	NM_000024.6(ADRB2):c.*32_*33insGC	noncoding	Benign
5	148994600	ATGGTTGGTTGGT	A	G148994650A	SH3TC2	NM_024577.4(SH3TC2):c.*10051ACCA[12]	noncoding	Benign
5	149002764	GAGT	G	A149002765T	SH3TC2	NM_024577.4(SH3TC2):c.*1944_*1946del	noncoding	Benign
5	149002770	C	CA	T149002771A	SH3TC2	NM_024577.4(SH3TC2):c.*1940_*1941insT	noncoding	Benign
5	149012672	TC	T	C149012677A	SH3TC2	NM_024577.4(SH3TC2):c.3115del:p.Glu1039fs	coding	Pathogenic
5	149027834	GC	G	C149027836T	SH3TC2	NM_024577.4(SH3TC2):c.1897del:p.Ala633fs	coding	Pathogenic/Likely_pathogenic
5	149028174	T	TCTTGGCCCACTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGC	G149028191T	SH3TC2	NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG:p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer	coding	Pathogenic
5	149028175	C	CCTTGGCCCACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG	T149028176C	SH3TC2	NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG:p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
5	149031598	AG	A	G149031600A	SH3TC2	NM_024577.4(SH3TC2):c.1090del:p.Leu364fs	coding	Pathogenic
5	149031683	TG	T	G149031684C	SH3TC2	NM_024577.4(SH3TC2):c.1005del:p.Ser335fs	coding	Pathogenic
5	149038366	T	TC	A149038369C	SH3TC2	NM_024577.4(SH3TC2):c.929dup:p.Ser312fs	coding	Pathogenic
5	149038445	T	TTTTCTCCTGGCTCATAACCCGTCAAGGCC	A149038477T	SH3TC2	NM_024577.4(SH3TC2):c.822_850dup:p.Lys284delinsArgProTer	coding	Pathogenic/Likely_pathogenic
5	149038476	T	TA	C149038478A	SH3TC2	NM_024577.4(SH3TC2):c.819dup:p.Lys274Ter	coding	Pathogenic
5	149047901	TGCCCAGA	T	C149047905G	SH3TC2	NM_024577.4(SH3TC2):c.233_239del:p.Leu78fs	coding	Pathogenic
5	149052238	T	TA	C149052240A	SH3TC2	NM_024577.4(SH3TC2):c.54dup:p.Lys19Ter	coding	Pathogenic
5	149866181	A	AG	T149866184G	PDE6A	NM_000440.3(PDE6A):c.2346dup:p.Phe783fs	coding	Pathogenic
5	149866211	GA	AT	G149866211A	PDE6A	NM_000440.3(PDE6A):c.2316_2317delinsAT:p.Gln773Ter	coding	Pathogenic
5	149866221	GA	G	A149866222G	PDE6A	NM_000440.3(PDE6A):c.2306del:p.Leu769fs	coding	Pathogenic
5	149883527	CG	C	G149883528T	PDE6A	NM_000440.3(PDE6A):c.2036del:p.Thr679fs	coding	Pathogenic
5	149883540	CA	C	A149883544C	PDE6A	NM_000440.3(PDE6A):c.2028-5del	noncoding	Benign
5	149884516	T	TG	T149884518G	PDE6A	NM_000440.3(PDE6A):c.1989dup:p.Ile664fs	coding	Pathogenic
5	149884531	T	TGGCATGCTCATGCTGTCGAC	A149884553G	PDE6A	NM_000440.3(PDE6A):c.1955_1974dup:p.Ile659fs	coding	Pathogenic/Likely_pathogenic
5	149895195	G	GTCTGCCCC	A149895196T	PDE6A	NM_000440.3(PDE6A):c.1715_1716insGGGGCAGA:p.Phe572fs	coding	Pathogenic
5	149895246	CT	C	T149895248G	PDE6A	NM_000440.3(PDE6A):c.1664del:p.Lys555fs	coding	Pathogenic
5	149895259	T	TCATG	T149895260C	PDE6A	NM_000440.3(PDE6A):c.1651_1652insCATG:p.Lys551delinsThrTer	coding	Pathogenic
5	149896414	CA	C	A149896415T	PDE6A	NM_000440.3(PDE6A):c.1561del:p.Cys521fs	coding	Pathogenic
5	149896415	A	AT	A149896420T	PDE6A	NM_000440.3(PDE6A):c.1560dup:p.Cys521fs	coding	Pathogenic
5	149944382	TG	T	G149944383A	PDE6A	NM_000440.3(PDE6A):c.291del:p.Phe97fs	coding	Pathogenic
5	149977707	G	GGAAAT	C149977715A	SLC26A2	NM_000112.4(SLC26A2):c.58_62dup:p.Asp21fs	coding	Pathogenic
5	149977719	T	TATCCATCTGGG	A149977741G	SLC26A2	NM_000112.4(SLC26A2):c.78_88dup:p.Glu30fs	coding	Pathogenic
5	149977749	AG	A	G149977752A	SLC26A2	NM_000112.4(SLC26A2):c.100del:p.Glu34fs	coding	Pathogenic
5	149977865	TA	T	A149977870G	SLC26A2	NM_000112.4(SLC26A2):c.218del:p.Lys73fs	coding	Pathogenic
5	149977886	C	CCAGTG	C149977896G	SLC26A2	NM_000112.4(SLC26A2):c.239_243dup:p.Pro82fs	coding	Pathogenic/Likely_pathogenic
5	149978040	TC	T	C149978043T	SLC26A2	NM_000112.4(SLC26A2):c.391del:p.Leu131fs	coding	Pathogenic/Likely_pathogenic
5	149978100	AT	A	T149978103A	SLC26A2	NM_000112.4(SLC26A2):c.451del:p.Tyr151fs	coding	Pathogenic/Likely_pathogenic
5	149978224	CTCCT	C	C149978230A	SLC26A2	NM_000112.4(SLC26A2):c.578_581del:p.Pro192_Ser193insTer	coding	Pathogenic/Likely_pathogenic
5	149979991	G	GA	G149980002A	SLC26A2	NM_000112.4(SLC26A2):c.700-292dup	noncoding	Benign
5	149980325	TTCTG	T	G149980329A	SLC26A2	NM_000112.4(SLC26A2):c.736_739del:p.Val246fs	coding	Pathogenic/Likely_pathogenic
5	149980388	T	TA	C149980390A	SLC26A2	NM_000112.4(SLC26A2):c.796dup:p.Thr266fs	coding	Pathogenic
5	149980653	G	GAAAAA	T149980658A	SLC26A2	NM_000112.4(SLC26A2):c.1064_1065insAAAAA:p.Asn355fs	coding	Pathogenic
5	149980737	GTGGC	G	G149980740T	SLC26A2	NM_000112.4(SLC26A2):c.1147_1150del:p.Val382_Ala383insTer	coding	Pathogenic
5	149980747	AT	A	T149980748G	SLC26A2	NM_000112.4(SLC26A2):c.1155del:p.Asp385fs	coding	Pathogenic
5	149980791	C	CTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAT	G149980797T	SLC26A2	NM_000112.4(SLC26A2):c.1203_1204insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTTTCT:p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
5	149980864	G	GT	A149980866T	SLC26A2	NM_000112.4(SLC26A2):c.1272dup:p.Asn425Ter	coding	Pathogenic
5	149980873	TC	T	C149980876T	SLC26A2	NM_000112.4(SLC26A2):c.1283del:p.Pro428fs	coding	Pathogenic
5	149980898	TA	T	A149980899C	SLC26A2	NM_000112.4(SLC26A2):c.1306del:p.Thr436fs	coding	Pathogenic
5	149980983	CTT	C	T149980986G	SLC26A2	NM_000112.4(SLC26A2):c.1393_1394del:p.Leu465fs	coding	Pathogenic
5	149980988	G	GT	G149980991T	SLC26A2	NM_000112.4(SLC26A2):c.1397dup:p.Leu466fs	coding	Pathogenic
5	149981028	CA	C	A149981034G	SLC26A2	NM_000112.4(SLC26A2):c.1441del:p.Ser481fs	coding	Pathogenic/Likely_pathogenic
5	149981028	C	CA	G149981035A	SLC26A2	NM_000112.4(SLC26A2):c.1441dup:p.Ser481fs	coding	Pathogenic
5	149981129	A	AGTTAT	C149981135G	SLC26A2	NM_000112.4(SLC26A2):c.1537_1541dup:p.Ile514fs	coding	Pathogenic/Likely_pathogenic
5	149981184	CT	C	T149981185A	SLC26A2	NM_000112.4(SLC26A2):c.1592del:p.Leu531fs	coding	Pathogenic
5	149981305	AC	A	C149981307T	SLC26A2	NM_000112.4(SLC26A2):c.1714del:p.Leu572fs	coding	Pathogenic
5	149981312	GA	G	A149981313T	SLC26A2	NM_000112.4(SLC26A2):c.1720del:p.Ile574fs	coding	Pathogenic
5	149981362	TAAAC	T	C149981366G	SLC26A2	NM_000112.4(SLC26A2):c.1773_1776del:p.Asn591fs	coding	Pathogenic
5	149981362	TA	T	A149981365C	SLC26A2	NM_000112.4(SLC26A2):c.1772del:p.Asn591fs	coding	Pathogenic
5	149981401	CTG	C	G149981403C	SLC26A2	NM_000112.4(SLC26A2):c.1810_1811del:p.Val604fs	coding	Pathogenic
5	149981407	AC	A	C149981410A	SLC26A2	NM_000112.4(SLC26A2):c.1817del:p.Pro606fs	coding	Pathogenic/Likely_pathogenic
5	149981518	AT	A	T149981519C	SLC26A2	NM_000112.4(SLC26A2):c.1926del:p.Leu644fs	coding	Pathogenic/Likely_pathogenic
5	149981545	TTGAC	T	A149981548C	SLC26A2	NM_000112.4(SLC26A2):c.1955_1958del:p.Asp652fs	coding	Pathogenic/Likely_pathogenic
5	149981574	AC	A	C149981575A	SLC26A2	NM_000112.4(SLC26A2):c.1982del:p.Thr661fs	coding	Pathogenic/Likely_pathogenic
5	149981586	C	CA	C149981588A	SLC26A2	NM_000112.4(SLC26A2):c.1994dup:p.His665fs	coding	Pathogenic/Likely_pathogenic
5	149981593	TGAAA	T	A149981597G	SLC26A2	NM_000112.4(SLC26A2):c.2004_2007del:p.Glu669fs	coding	Pathogenic
5	149981713	T	TTC	T149981719C	SLC26A2	NM_000112.4(SLC26A2):c.2124_2125dup:p.Phe709fs	coding	Pathogenic/Likely_pathogenic
5	149995316	CT	C	T149995318G	TIGD6	NM_030953.4(TIGD6):c.1032del:p.Glu345fs	coding	Benign
5	150057611	T	TG	C150057618G	CSF1R	NM_001288705.3(CSF1R):c.2133-20dup	noncoding	Benign
5	150061453	AC	A	C150061459A	CSF1R	NM_001288705.3(CSF1R):c.1858+37del	noncoding	Benign
5	150117527	A	AGC	A150117546G	PDGFRB	NM_002609.4(PDGFRB):c.3137+73GC[10]	noncoding	Benign
5	150117536	GCGCGCGCGCACACA	G	G150117538A	PDGFRB	NM_002609.4(PDGFRB):c.3137+68_3137+81del	noncoding	Benign
5	150117536	GCGCGCGCGCACA	G	G150117538A	PDGFRB	NM_002609.4(PDGFRB):c.3137+70_3137+81del	noncoding	Benign
5	150117538	GCGCGCGCACACACACA	G	G150117540A	PDGFRB	NM_002609.4(PDGFRB):c.3137+64_3137+79del	noncoding	Benign
5	150117540	GCGCGCACACA	G	G150117542A	PDGFRB	NM_002609.4(PDGFRB):c.3137+68_3137+77del	noncoding	Benign
5	150117540	GCGCGCACA	G	G150117542A	PDGFRB	NM_002609.4(PDGFRB):c.3137+70_3137+77del	noncoding	Benign
5	150117542	G	GCA	G150117544A	PDGFRB	NM_002609.4(PDGFRB):c.3137+75_3137+76insGT	noncoding	Benign
5	150117544	GCACA	G	A150117576T	PDGFRB	NM_002609.4(PDGFRB):c.3137+40TG[15]	noncoding	Benign
5	150117544	G	GCA	T150117580A	PDGFRB	NM_002609.4(PDGFRB):c.3137+40TG[18]	noncoding	Benign
5	150117546	A	ACG	A150117548G	PDGFRB	NM_002609.4(PDGFRB):c.3137+71_3137+72insGC	noncoding	Benign
5	150118934	C	CT	C150118936T	PDGFRB	NM_002609.4(PDGFRB):c.2799-83dup	noncoding	Benign
5	150119308	AG	A	G150119310T	PDGFRB	NM_002609.4(PDGFRB):c.2798+158del	noncoding	Benign
5	150122125	TCTCA	T	T150122131A	PDGFRB	NM_002609.4(PDGFRB):c.2184-89_2184-86del	noncoding	Benign
5	150361154	AG	A	G150361155A	TCOF1	NM_001371623.1(TCOF1):c.109-1del	noncoding	Pathogenic
5	150368717	CAG	C	G150368721C	TCOF1	NM_001371623.1(TCOF1):c.384_385del:p.Glu128fs	coding	Pathogenic
5	150368796	TG	T	G150368799A	TCOF1	NM_001371623.1(TCOF1):c.462del:p.Lys155fs	coding	Pathogenic
5	150369580	CCA	C	C150369581G	TCOF1	NM_001371623.1(TCOF1):c.618_619del:p.Ser206_Ser207insTer	coding	Pathogenic
5	150372008	GA	G	A150372011C	TCOF1	NM_001371623.1(TCOF1):c.645del:p.Lys215fs	coding	Pathogenic
5	150372011	AC	A	C150372014T	TCOF1	NM_001371623.1(TCOF1):c.648del:p.Ser217fs	coding	Pathogenic
5	150372182	TAGTGAGGAGGGATCTGAA	T	G150372193A	TCOF1	NM_001371623.1(TCOF1):c.827_844del:p.Gly276_Glu281del	coding	Benign/Likely_benign
5	150372203	TGAG	T	A150372211C	TCOF1	NM_001371623.1(TCOF1):c.839AGG[2]:p.Glu282del	coding	Benign
5	150374375	GC	G	C150374378T	TCOF1	NM_001371623.1(TCOF1):c.1075del:p.Leu359fs	coding	Pathogenic
5	150374705	CT	C	T150374706G	TCOF1	NM_001371623.1(TCOF1):c.1173del:p.Lys393fs	coding	Pathogenic
5	150375001	TGCCAAGGAGTCCCCCAGGAAAGG	T	C150375003G	TCOF1	NM_001371623.1(TCOF1):c.1328_1350del:p.Ala443fs	coding	Pathogenic
5	150375099	CAA	C	A150375100G	TCOF1	NM_001371623.1(TCOF1):c.1425_1426del:p.Arg476fs	coding	Pathogenic
5	150375354	A	AT	A150375355T	TCOF1	NM_001371623.1(TCOF1):c.1504_1505insT:p.Lys502fs	coding	Pathogenic
5	150375391	TG	T	G150375395C	TCOF1	NM_001371623.1(TCOF1):c.1545del:p.Leu517fs	coding	Pathogenic
5	150375425	AC	A	C150375428G	TCOF1	NM_001371623.1(TCOF1):c.1578del:p.Lys528fs	coding	Pathogenic
5	150375840	GG	TT	G150375840T	TCOF1	NM_001371623.1(TCOF1):c.1824_1825delinsTT:p.Glu609Ter	coding	Pathogenic
5	150375881	AGGCACCAG	A	G150375882C	TCOF1	NM_001371623.1(TCOF1):c.1866_1873del:p.Glu622fs	coding	Pathogenic
5	150376181	G	GC	G150376188C	TCOF1	NM_001371623.1(TCOF1):c.1999dup:p.Arg667fs	coding	Pathogenic
5	150376288	TAGTG	T	T150376291G	TCOF1	NM_001371623.1(TCOF1):c.2103_2106del:p.Ser701fs	coding	Pathogenic
5	150376294	GGAAGA	G	G150376300C	TCOF1	NM_001371623.1(TCOF1):c.2112_2116del:p.Glu704fs	coding	Pathogenic
5	150376329	AG	A	G150376331T	TCOF1	NM_001371623.1(TCOF1):c.2142+1del	coding	Pathogenic
5	150379027	G	GAGGT	C150379032A	TCOF1	NM_001371623.1(TCOF1):c.2464_2467dup:p.Ser823Ter	coding	Pathogenic
5	150379580	GC	G	C150379582A	TCOF1	NM_001371623.1(TCOF1):c.2709del:p.Lys904fs	coding	Pathogenic
5	150379594	CA	C	A150379595G	TCOF1	NM_001371623.1(TCOF1):c.2722del:p.Arg908fs	coding	Pathogenic
5	150379688	TCAGA	T	A150379692T	TCOF1	NM_001371623.1(TCOF1):c.2819_2822del:p.Asp940fs	coding	Pathogenic
5	150391996	C	CCTCT	A150391997C	TCOF1	NM_001371623.1(TCOF1):c.3337_3338insCTCT:p.Gln1113fs	coding	Pathogenic
5	150393464	TTCCTC	T	C150393466A	TCOF1	NM_001371623.1(TCOF1):c.3698_3702del:p.Ser1233fs	coding	Pathogenic
5	150396572	AC	A	C150396577A	TCOF1	NM_001371623.1(TCOF1):c.4080del:p.Arg1361fs	coding	Pathogenic
5	150396705	AGAAAG	A	A150396707G	TCOF1	NM_001371623.1(TCOF1):c.4210_4214del:p.Lys1404fs	coding	Pathogenic
5	150396838	CAA	C	A150396839G	TCOF1	NM_001371623.1(TCOF1):c.4342_4343del:p.Lys1448fs	coding	Pathogenic/Likely_pathogenic
5	151259879	TG	T	G151259882C	GM2A	NM_000405.5(GM2A):c.209del:p.Gly70fs	coding	Pathogenic
5	151266896	CA	C	A151266897C	GM2A	NM_000405.5(GM2A):c.410del:p.His137fs	coding	Pathogenic
5	151316740	C	CAAA	G151316764A	SLC36A2	NM_181776.3(SLC36A2):c.*74_*76dup	noncoding	Benign
5	151316740	C	CAA	G151316764A	SLC36A2	NM_181776.3(SLC36A2):c.*75_*76dup	noncoding	Benign
5	151316740	C	CA	G151316764A	SLC36A2	NM_181776.3(SLC36A2):c.*76dup	noncoding	Benign
5	151316762	A	AAG	T151316768G	SLC36A2	NM_181776.3(SLC36A2):c.*51CT[3]	noncoding	Benign
5	151325578	TA	T	A151325579T	SLC36A2	NM_181776.3(SLC36A2):c.844-127del	noncoding	Benign
5	151506113	A	AAGAT	G151506120A	FAT2	NM_001447.3(FAT2):c.12518-20_12518-17dup	noncoding	Benign
5	151506129	A	AT	C151506134T	FAT2	NM_001447.3(FAT2):c.12518-36dup	noncoding	Benign
5	151507621	C	CAGA	G151507625A	FAT2	NM_001447.3(FAT2):c.12060-13_12060-11dup	noncoding	Benign
5	151507623	G	GAGA	T151507626A	FAT2	NM_001447.3(FAT2):c.12060-13_12060-12insCTT	noncoding	Benign
5	151512025	C	CA	C151512028A	FAT2	NM_001447.3(FAT2):c.11905+138dup	noncoding	Benign
5	151522227	G	GA	C151522238A	FAT2	NM_001447.3(FAT2):c.10507-151dup	noncoding	Benign
5	151529577	AT	A	T151529582C	FAT2	NM_001447.3(FAT2):c.9812-186del	noncoding	Benign
5	151855001	T	TG	T151855008G	GLRA1	NM_000171.4(GLRA1):c.697+33dup	noncoding	Benign
5	151855101	CAG	C	A151855104T	GLRA1	NM_000171.4(GLRA1):c.634_635del:p.Leu212fs	coding	Pathogenic
5	151855305	C	CT	C151855314T	GLRA1	NM_000171.4(GLRA1):c.560-136dup	noncoding	Benign
5	151859882	AC	A	C151859883A	GLRA1	NM_000171.4(GLRA1):c.378del:p.Phe127fs	coding	Pathogenic
5	151859884	AG	A	G151859886T	GLRA1	NM_000171.4(GLRA1):c.376del:p.Leu126fs	coding	Pathogenic
5	151886786	G	GA	C151886788A	GLRA1	NM_000171.4(GLRA1):c.186dup:p.Pro63fs	coding	Pathogenic
5	151924883	C	CT	A151924904T	GLRA1	Single_allele	noncoding	Benign
5	151924883	CT	C	T151924903A	GLRA1	Single_allele	noncoding	Benign
5	151924883	CTT	C	T151924902A	GLRA1	Single_allele	noncoding	Benign
5	156344411	A	AT	C156344421T	SGCD	NM_000337.6(SGCD):c.4-69dup	noncoding	Benign
5	156508502	TAA	T	A156508513G	SGCD	NM_000337.6(SGCD):c.193-88_193-87del	noncoding	Benign
5	156508502	TA	T	A156508514G	SGCD	NM_000337.6(SGCD):c.193-87del	noncoding	Benign
5	156588988	TTG	T	T156589023C	SGCD	NM_000337.6(SGCD):c.295-242TG[17]	noncoding	Benign
5	156588988	T	TTG	C156589025T	SGCD	NM_000337.6(SGCD):c.295-242TG[19]	noncoding	Benign
5	156588988	T	TTGTG	C156589025T	SGCD	NM_000337.6(SGCD):c.295-242TG[20]	noncoding	Benign
5	156588988	T	TTGTGTGTG	C156589025T	SGCD	NM_000337.6(SGCD):c.295-242TG[22]	noncoding	Benign
5	156588988	T	TTGTGTGTGTG	C156589025T	SGCD	NM_000337.6(SGCD):c.295-242TG[23]	noncoding	Benign
5	156588988	T	TTGTGTGTGTGTG	C156589025T	SGCD	NM_000337.6(SGCD):c.295-242TG[24]	noncoding	Benign
5	156647444	CT	C	T156647448C	SGCD	NM_000337.6(SGCD):c.503-16del	noncoding	Benign
5	156647644	TAAATTGA	T	A156647647G	SGCD	NM_000337.6(SGCD):c.575+111_575+117del	noncoding	Benign
5	156757446	G	GT	G156757449T	SGCD	NM_000337.6(SGCD):c.576-133dup	noncoding	Benign
5	156757714	GA	G	A156757715G	SGCD	NM_000337.6(SGCD):c.699+11del	coding	Benign
5	156757715	AG	A	G156757716A	SGCD	NM_000337.6(SGCD):c.699+12del	coding	Benign
5	156757716	GA	G	A156757718G	SGCD	NM_000337.6(SGCD):c.699+14del	coding	Benign
5	157294854	T	TC	A157294859C	CYFIP2	NM_001037333.3(CYFIP2):c.283dup:p.Gln95fs	coding	Benign
5	157300699	GC	G	C157300703T	CYFIP2	NM_001037333.3(CYFIP2):c.388-12del	noncoding	Benign
5	157333305	TTC	T	C157333317T	CYFIP2	NM_001037333.3(CYFIP2):c.2266-21TC[5]	noncoding	Benign
5	157361604	T	TCCAGAGC	A157361615G	CYFIP2	NM_001037333.3(CYFIP2):c.3039+10_3039+16dup	noncoding	Benign
5	157389434	AC	A	C157389440A	CYFIP2	NM_001037333.3(CYFIP2):c.3446+13del	noncoding	Benign
5	161336814	CA	C	A161336827C	GABRB2	NM_001371727.1(GABRB2):c.542-46del	noncoding	Benign
5	161336814	C	CA	C161336828A	GABRB2	NM_001371727.1(GABRB2):c.542-58dup	noncoding	Benign
5	161459857	G	GA	C161459867A	GABRB2	NM_001371727.1(GABRB2):c.238-14dup	noncoding	Benign/Likely_benign
5	161545437	TAA	T	A161545454G	GABRB2	NM_001371727.1(GABRB2):c.170-145_170-144del	noncoding	Benign
5	161545437	TA	T	A161545455G	GABRB2	NM_001371727.1(GABRB2):c.170-144del	noncoding	Benign
5	161545437	T	TAA	G161545456A	GABRB2	NM_001371727.1(GABRB2):c.170-161_170-160dup	noncoding	Benign
5	161545437	T	TA	G161545456A	GABRB2	NM_001371727.1(GABRB2):c.170-161dup	noncoding	Benign
5	161546802	TA	T	A161546819T	GABRB2	NM_000813.3(GABRB2):c.-152-8del	noncoding	Benign
5	161546802	T	TA	T161546820A	GABRB2	NM_000813.3(GABRB2):c.-152-8dup	noncoding	Benign
5	161848533	GGA	G	G161848550A	GABRA1	NM_001127644.2(GABRA1):c.-16+112GA[8]	noncoding	Benign
5	161848558	A	AGAGC	A161848575G	GABRA1	NM_001127644.2(GABRA1):c.-16+137GAGC[5]	noncoding	Benign
5	161853834	AT	A	T161853843A	GABRA1	NM_001127644.2(GABRA1):c.75-315del	noncoding	Benign
5	161854146	G	GT	C161854155T	GABRA1	NM_001127644.2(GABRA1):c.75-4dup	noncoding	Benign/Likely_benign
5	161882377	TA	T	A161882389T	GABRA1	NM_001127644.2(GABRA1):c.560-169del	noncoding	Benign
5	161891005	TC	T	C161891007T	GABRA1	NM_001127644.2(GABRA1):c.813del:p.Phe272fs	coding	Pathogenic
5	161895646	G	GT	C161895658T	GABRA1	NM_001127644.2(GABRA1):c.857-9dup	noncoding	Benign/Likely_benign
5	162093929	TAAAC	T	A162093932C	GABRG2	NM_198904.4(GABRG2):c.212_215del:p.Asn71fs	coding	Pathogenic
5	162097735	T	TG	A162097740G	GABRG2	NM_198904.4(GABRG2):c.429dup:p.Lys144fs	coding	Pathogenic
5	162097775	CA	C	A162097781G	GABRG2	NM_198904.4(GABRG2):c.471del:p.Ala158fs	coding	Pathogenic/Likely_pathogenic
5	162097803	AC	A	C162097808A	GABRG2	NM_198904.4(GABRG2):c.498del:p.Asn167fs	coding	Pathogenic
5	162101580	CT	C	T162101592G	GABRG2	NM_198904.4(GABRG2):c.631+275del	noncoding	Benign
5	162153156	CAA	C	A162153157G	GABRG2	NM_198904.4(GABRG2):c.1217_1218del:p.Gln406fs	coding	Pathogenic/Likely_pathogenic
5	162153163	G	GAC	G162153165C	GABRG2	NM_198904.4(GABRG2):c.1224_1225insCA:p.Asp409fs	coding	Pathogenic
5	162153211	GT	G	T162153217C	GABRG2	NM_198904.4(GABRG2):c.1277del:p.Phe426fs	coding	Pathogenic
5	168486656	CAG	C	A168486659T	RARS1	NM_002887.4(RARS1):c.45+116_45+117del	noncoding	Benign
5	168493011	CT	C	T168493017A	RARS1	NM_002887.4(RARS1):c.369+170del	noncoding	Benign
5	168495002	A	AT	C168495017T	RARS1	NM_002887.4(RARS1):c.580-299dup	noncoding	Benign
5	168495002	AT	A	T168495016C	RARS1	NM_002887.4(RARS1):c.580-299del	noncoding	Benign
5	168497522	CT	C	T168497532G	RARS1	NM_002887.4(RARS1):c.822+184del	noncoding	Benign
5	168500591	G	GA	T168500594A	RARS1	NM_002887.4(RARS1):c.825dup:p.Ser276fs	coding	Pathogenic
5	168502380	A	AT	A168502382T	RARS1	NM_002887.4(RARS1):c.1057+276dup	noncoding	Benign
5	168502380	A	ATT	A168502382T	RARS1	NM_002887.4(RARS1):c.1057+276_1057+277insTT	noncoding	Benign
5	168502380	A	ATTT	A168502382T	RARS1	NM_002887.4(RARS1):c.1057+276_1057+277insTTT	noncoding	Benign
5	168502382	A	AT	A168502384T	RARS1	NM_002887.4(RARS1):c.1057+278dup	noncoding	Benign
5	168502382	A	ATTT	A168502384T	RARS1	NM_002887.4(RARS1):c.1057+278_1057+279insTTT	noncoding	Benign
5	168502385	T	TA	T168502386A	RARS1	NM_002887.4(RARS1):c.1057+280_1057+281insA	noncoding	Benign
5	168505714	GAAAAA	G	A168505731G	RARS1	NM_002887.4(RARS1):c.1058-290_1058-286del	noncoding	Benign
5	168505714	GAA	G	A168505734G	RARS1	NM_002887.4(RARS1):c.1058-287_1058-286del	noncoding	Benign
5	168505714	GA	G	A168505735G	RARS1	NM_002887.4(RARS1):c.1058-286del	noncoding	Benign
5	168506668	C	CT	C168506680T	RARS1	NM_002887.4(RARS1):c.1237-43dup	noncoding	Benign
5	168517020	C	CT	G168517034T	RARS1	NM_002887.4(RARS1):c.1625+83dup	noncoding	Benign
5	168517738	A	ATTTCTGATTTACGTGAATCACTTAGTACATAT	G168517743T	RARS1	NM_002887.4(RARS1):c.1626-73_1626-72insTGATTTACGTGAATCACTTAGTACATATTTTC	noncoding	Benign
5	168517803	G	GT	A168517812T	RARS1	NM_002887.4(RARS1):c.1626-4dup	noncoding	Benign
5	169669308	A	AT	A169669310T	DOCK2	NM_004946.3(DOCK2):c.149dup:p.His52fs	coding	Pathogenic
5	169671168	C	CT	A169671170T	DOCK2	NM_004946.3(DOCK2):c.316dup:p.Tyr106fs	coding	Pathogenic
5	169695794	TC	T	C169695800A	DOCK2	NM_004946.3(DOCK2):c.844-3del	noncoding	Benign
5	169702391	CAT	C	A169702392G	DOCK2	NM_004946.3(DOCK2):c.1348_1349del:p.Met450fs	coding	Pathogenic
5	169711917	C	CT	G169711919T	DOCK2	NM_004946.3(DOCK2):c.1483-17dup	noncoding	Benign
5	169718749	A	ATG	T169718755G	DOCK2	NM_004946.3(DOCK2):c.2229_2230dup:p.Phe744fs	coding	Pathogenic
5	170019110	TA	T	A170019116T	DOCK2	NM_004946.3(DOCK2):c.3381+8del	noncoding	Benign
5	170041112	C	CTA	C170041115T	DOCK2	NM_004946.3(DOCK2):c.3724_3725dup:p.Leu1244fs	coding	Pathogenic
5	171392586	CTTT	C	T171392601A	NPM1	NM_002520.7(NPM1):c.353-109_353-107del	noncoding	Benign
5	171400460	CTT	C	T171400475G	NPM1	NM_002520.7(NPM1):c.582+265_582+266del	noncoding	Benign
5	171410553	GA	G	A171410555G	NPM1	NM_002520.7(NPM1):c.875del:p.Lys292fs	coding	Pathogenic
5	172354122	A	AC	T172354130C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.668-124dup	noncoding	Benign
5	172373580	G	GCATC	C172373622A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.427+170GATG[11]	noncoding	Benign
5	172394392	ATAAC	A	A172394398G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.309+167_309+170del	noncoding	Benign
5	172406358	TG	T	G172406364C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.157-7del	noncoding	Benign
5	172454129	AC	A	C172454132G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.75+148del	noncoding	Benign
5	172454257	TG	T	G172454262C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.75+20del	noncoding	Benign
5	173232759	G	GCGCCGCC	G173232767C	NKX2-5	NM_004387.4(NKX2-5):c.778_784dup:p.Ala262fs	coding	Pathogenic
5	173232760	CG	C	G173232761C	NKX2-5	NM_004387.4(NKX2-5):c.783del:p.Ala262fs	coding	Pathogenic/Likely_pathogenic
5	173232944	CTG	C	T173232945G	NKX2-5	NM_004387.4(NKX2-5):c.598_599del:p.Gln200fs	coding	Pathogenic
5	173232958	GC	G	C173232960G	NKX2-5	NM_004387.4(NKX2-5):c.585del:p.Gln196fs	coding	Pathogenic
5	173233007	GGACGTGA	G	A173233009T	NKX2-5	NM_004387.4(NKX2-5):c.530_536del:p.Leu177fs	coding	Pathogenic
5	173233081	GC	G	C173233082T	NKX2-5	NM_004387.4(NKX2-5):c.462del:p.Glu154fs	coding	Pathogenic
5	173233109	G	GA	G173233112A	NKX2-5	NM_004387.4(NKX2-5):c.434dup:p.Ser146fs	coding	Pathogenic
5	173233120	G	GC	G173233122C	NKX2-5	NM_004387.4(NKX2-5):c.423dup:p.Arg142fs	coding	Pathogenic
5	173233165	CCT	C	C173233168G	NKX2-5	NM_004387.4(NKX2-5):c.377_378del:p.Glu126fs	coding	Pathogenic
5	173233202	GCA	G	C173233205G	NKX2-5	NM_004387.4(NKX2-5):c.340_341del:p.Cys114fs	coding	Pathogenic
5	173233202	G	GCA	G173233207C	NKX2-5	NM_004387.4(NKX2-5):c.340_341dup:p.Leu116fs	coding	Pathogenic
5	173233213	A	AG	A173233219G	NKX2-5	NM_004387.4(NKX2-5):c.335-5dup	coding	Benign
5	173234537	C	CTTCT	G173234542T	NKX2-5	NM_004387.4(NKX2-5):c.334+209_334+212dup	noncoding	Benign
5	173234802	TG	T	G173234804A	NKX2-5	NM_004387.4(NKX2-5):c.281del:p.Pro94fs	coding	Pathogenic
5	173234813	C	CG	C173234819G	NKX2-5	NM_004387.4(NKX2-5):c.270dup:p.Ala91fs	coding	Pathogenic
5	173234813	CG	C	G173234818C	NKX2-5	NM_004387.4(NKX2-5):c.270del:p.Ala91fs	coding	Pathogenic
5	173234822	CG	C	G173234825A	NKX2-5	NM_004387.4(NKX2-5):c.261del:p.Ala88fs	coding	Pathogenic
5	173234827	A	AAGGC	A173234834G	NKX2-5	NM_004387.4(NKX2-5):c.253_256dup:p.Phe86fs	coding	Pathogenic
5	173234853	AG	A	G173234855C	NKX2-5	NM_004387.4(NKX2-5):c.230del:p.Pro77fs	coding	Pathogenic
5	173234871	TG	T	G173234872C	NKX2-5	NM_004387.4(NKX2-5):c.212del:p.Ala71fs	coding	Pathogenic
5	173234897	C	CAGCCGCCTCGGGCCCAGCGT	G173234920C	NKX2-5	NM_004387.4(NKX2-5):c.167_186dup:p.Ala63fs	coding	Pathogenic/Likely_pathogenic
5	174724412	G	GA	G174724413A	MSX2	Single_allele	noncoding	Benign
5	174724413	GAA	G	A174724435G	MSX2	Single_allele	noncoding	Benign
5	174724413	GA	G	A174724436G	MSX2	Single_allele	noncoding	Benign
5	174724413	G	GAAA	G174724437A	MSX2	Single_allele	noncoding	Benign
5	174724413	G	GAA	G174724437A	MSX2	Single_allele	noncoding	Benign
5	174724413	G	GA	G174724437A	MSX2	Single_allele	noncoding	Benign
5	174724438	GA	G	A174724439G	MSX2	Single_allele	noncoding	Benign
5	174724439	A	AG	C174724447G	MSX2	Single_allele	noncoding	Benign
5	174724439	A	AGG	C174724447G	MSX2	Single_allele	noncoding	Benign
5	174724439	A	AGGG	C174724447G	MSX2	Single_allele	noncoding	Benign
5	174728967	ATGTG	A	G174728993A	MSX2	NM_002449.5(MSX2):c.380-191TG[12]	noncoding	Benign
5	174728967	ATGTGTG	A	G174728991A	MSX2	NM_002449.5(MSX2):c.380-191TG[11]	noncoding	Benign
5	174728995	G	GTA	G174729001A	MSX2	NM_002449.5(MSX2):c.380-163TA[3]	noncoding	Benign
5	174728995	GTA	G	A174728999G	MSX2	NM_002449.5(MSX2):c.380-160_380-159del	noncoding	Benign
5	174729251	GAGCGCA	G	C174729254T	MSX2	NM_002449.5(MSX2):c.475_480del:p.Arg159_Lys160del	coding	Pathogenic
5	176599120	TCAAAGACCCAGGA	T	C176599121T	GPRIN1	NM_052899.3(GPRIN1):c.702_714del:p.Asp234fs	coding	Benign
5	176626335	GGT	G	G176626362T	SNCB	NM_003085.5(SNCB):c.282+35AC[13]	noncoding	Benign
5	176626335	GGTGT	G	G176626360T	SNCB	NM_003085.5(SNCB):c.282+35AC[12]	noncoding	Benign
5	177135959	AC	A	C177135961A	NSD1	NM_022455.5(NSD1):c.858del:p.Ser287fs	coding	Pathogenic
5	177191967	GC	G	C177191970T	NSD1	NM_022455.5(NSD1):c.1014del:p.Cys339fs	coding	Pathogenic
5	177191989	C	CCGTT	G177191994C	NSD1	NM_022455.5(NSD1):c.1034_1037dup:p.Leu346fs	coding	Pathogenic
5	177191998	AAC	A	C177192004T	NSD1	NM_022455.5(NSD1):c.1048_1049del:p.His350fs	coding	Pathogenic
5	177204266	CAGAA	C	G177204272A	NSD1	NM_022455.5(NSD1):c.1216_1219del:p.Glu406fs	coding	Pathogenic
5	177209528	C	CA	G177209545A	NSD1	NM_022455.5(NSD1):c.1237-92dup	noncoding	Benign
5	177209907	C	CG	T177209908G	NSD1	NM_022455.5(NSD1):c.1508_1509insG:p.Ser503_Asp504insTer	coding	Pathogenic
5	177210007	CT	C	T177210010A	NSD1	NM_022455.5(NSD1):c.1611del:p.Phe537fs	coding	Pathogenic
5	177210120	G	GA	C177210127A	NSD1	NM_022455.5(NSD1):c.1727dup:p.Asn576fs	coding	Pathogenic
5	177210449	ATAAAG	A	A177210452T	NSD1	NM_022455.5(NSD1):c.2053_2057del:p.Lys685fs	coding	Pathogenic
5	177210561	CTGGAACCGAGACGTCTCAG	C	T177210562G	NSD1	NM_022455.5(NSD1):c.2163_2181del:p.Gly722fs	coding	Pathogenic
5	177210972	AAC	A	C177210974T	NSD1	NM_022455.5(NSD1):c.2575_2576del:p.His859fs	coding	Pathogenic
5	177211002	C	CT	A177211005T	NSD1	NM_022455.5(NSD1):c.2605dup:p.Tyr869fs	coding	Pathogenic
5	177211071	CT	C	T177211073C	NSD1	NM_022455.5(NSD1):c.2674del:p.Ser892fs	coding	Pathogenic
5	177211342	T	TG	T177211348G	NSD1	NM_022455.5(NSD1):c.2948dup:p.Gly983_Asp984insTer	coding	Pathogenic
5	177211413	TC	T	C177211416T	NSD1	NM_022455.5(NSD1):c.3017del:p.Pro1006fs	coding	Pathogenic
5	177211426	TA	T	A177211430G	NSD1	NM_022455.5(NSD1):c.3031del:p.Ser1011fs	coding	Pathogenic
5	177211488	TG	CT	T177211488C	NSD1	NM_022455.5(NSD1):c.3089_3090delinsCT:p.Leu1030Ser	coding	Benign
5	177211542	T	TAA	G177211546A	NSD1	NM_022455.5(NSD1):c.3145_3146dup:p.Thr1050fs	coding	Pathogenic
5	177211630	ATTGAGA	TC	A177211630T	NSD1	NM_022455.5(NSD1):c.3231_3237delinsTC:p.Leu1078fs	coding	Pathogenic
5	177211651	TC	T	C177211653T	NSD1	NM_022455.5(NSD1):c.3254del:p.Pro1085fs	coding	Pathogenic
5	177211759	T	TA	T177211764A	NSD1	NM_022455.5(NSD1):c.3364dup:p.Ile1122fs	coding	Pathogenic
5	177212085	CA	C	A177212086G	NSD1	NM_022455.5(NSD1):c.3687del:p.Ala1230fs	coding	Pathogenic
5	177212216	T	TA	T177212230A	NSD1	NM_022455.5(NSD1):c.3796+34dup	noncoding	Benign
5	177212473	CTTTCTCTCTCTCTCT	C	C177212477T	NSD1	NM_022455.5(NSD1):c.3796+282_3796+296del	noncoding	Benign
5	177212486	TC	T	C177212487T	NSD1	NM_022455.5(NSD1):c.3796+292del	noncoding	Benign
5	177212487	C	CT	C177212502T	NSD1	NM_022455.5(NSD1):c.3796+306dup	noncoding	Benign
5	177212487	C	CTT	C177212502T	NSD1	NM_022455.5(NSD1):c.3796+305_3796+306dup	noncoding	Benign
5	177212487	CT	C	T177212501C	NSD1	NM_022455.5(NSD1):c.3796+306del	noncoding	Benign
5	177238078	CT	C	T177238080A	NSD1	NM_022455.5(NSD1):c.3922-157del	noncoding	Benign
5	177239780	GAA	G	A177239783C	NSD1	NM_022455.5(NSD1):c.4220_4221del:p.Lys1407fs	coding	Pathogenic
5	177244253	CA	C	A177244257G	NSD1	NM_022455.5(NSD1):c.4365del:p.Asp1456fs	coding	Pathogenic
5	177244282	TGA	T	G177244285T	NSD1	NM_022455.5(NSD1):c.4378+15_4378+16del	noncoding	Benign
5	177248196	C	CA	C177248198A	NSD1	NM_022455.5(NSD1):c.4514dup:p.His1505fs	coding	Pathogenic
5	177248249	TC	T	C177248252G	NSD1	NM_022455.5(NSD1):c.4569del:p.Met1525fs	coding	Pathogenic
5	177251759	A	AT	G177251761T	NSD1	NM_022455.5(NSD1):c.4672dup:p.Cys1558fs	coding	Pathogenic
5	177257067	AT	A	T177257068G	NSD1	NM_022455.5(NSD1):c.4883del:p.Met1628fs	coding	Pathogenic
5	177267953	GT	G	T177267970A	NSD1	NM_022455.5(NSD1):c.5303+252del	noncoding	Benign
5	177269803	AAAAG	A	A177269804G	NSD1	NM_022455.5(NSD1):c.5506_5509del:p.Lys1836fs	coding	Pathogenic
5	177273737	GAAGACCGA	G	C177273742A	NSD1	NM_022455.5(NSD1):c.5580_5587del:p.Asp1860fs	coding	Pathogenic
5	177280693	CTA	C	A177280695G	NSD1	NM_022455.5(NSD1):c.5753_5754del:p.Leu1917_Tyr1918insTer	coding	Pathogenic
5	177280765	TCCAGA	T	C177280766G	NSD1	NM_022455.5(NSD1):c.5824_5828del:p.Pro1942fs	coding	Pathogenic
5	177291982	CAAAG	C	G177291986T	NSD1	NM_022455.5(NSD1):c.6291_6294del:p.Lys2097fs	coding	Pathogenic/Likely_pathogenic
5	177291986	GA	G	A177291989T	NSD1	NM_022455.5(NSD1):c.6294del:p.Lys2098fs	coding	Pathogenic
5	177292085	C	CG	T177292087G	NSD1	NM_022455.5(NSD1):c.6391dup:p.Val2131fs	coding	Pathogenic
5	177292149	C	CG	A177292151G	NSD1	NM_022455.5(NSD1):c.6455dup:p.Pro2153fs	coding	Pathogenic
5	177293534	G	GC	T177293543C	NSD1	NM_022455.5(NSD1):c.6464-290dup	noncoding	Benign
5	177293542	CT	C	T177293543C	NSD1	NM_022455.5(NSD1):c.6464-289del	noncoding	Benign
5	177293855	CA	C	A177293856G	NSD1	NM_022455.5(NSD1):c.6488del:p.Gln2163fs	coding	Pathogenic
5	177294770	CG	C	G177294773C	NSD1	NM_022455.5(NSD1):c.7405del:p.Ala2469fs	coding	Pathogenic
5	177294968	AC	A	C177294971A	NSD1	NM_022455.5(NSD1):c.7603del:p.Gln2535fs	coding	Pathogenic
5	177386116	T	TG	A177386119G	SLC34A1	NM_003052.5(SLC34A1):c.241dup:p.Glu81fs	coding	Pathogenic
5	177404176	TC	T	C177404185A	F12	NM_000505.4(F12):c.1018+19del	noncoding	Benign
5	177512548	A	AG	A177512552G	DDX41	NM_016222.4(DDX41):c.1496dup:p.Ala500fs	coding	Pathogenic
5	177512784	GC	G	C177512789A	DDX41	NM_016222.4(DDX41):c.1394del:p.Gly465fs	coding	Pathogenic
5	177513796	CT	C	T177513797G	DDX41	NM_016222.4(DDX41):c.986del:p.Gln329fs	coding	Pathogenic
5	177513835	CAT	C	A177513836G	DDX41	NM_016222.4(DDX41):c.946_947del:p.Met316fs	coding	Pathogenic
5	177515370	CAG	C	A177515387T	DDX41	NM_016222.4(DDX41):c.572-130CT[8]	noncoding	Benign
5	177516185	CTT	C	T177516187G	DDX41	NM_016222.4(DDX41):c.305_306del:p.Lys102fs	coding	Pathogenic
5	177600075	G	GCGGCGGACC	G177600094C	B4GALT7	Single_allele	noncoding	Benign
5	177608487	GCCC	G	C177608496G	B4GALT7	NM_007255.3(B4GALT7):c.640-43_640-41del	noncoding	Benign
5	177608487	G	GC	G177608499C	B4GALT7	NM_007255.3(B4GALT7):c.640-41dup	noncoding	Benign
5	177992806	TA	T	A177992807C	PROP1	NM_006261.5(PROP1):c.583del:p.Tyr195fs	coding	Pathogenic
5	177993002	A	AGC	T177993007G	PROP1	NM_006261.5(PROP1):c.386_387dup:p.Ser130fs	coding	Pathogenic/Likely_pathogenic
5	177994137	CG	C	G177994140C	PROP1	NM_006261.5(PROP1):c.310del:p.Arg104fs	coding	Pathogenic/Likely_pathogenic
5	177994291	T	TC	T177994298C	PROP1	NM_006261.5(PROP1):c.156dup:p.Arg53fs	coding	Pathogenic/Likely_pathogenic
5	177994318	T	TG	C177994320G	PROP1	NM_006261.5(PROP1):c.129dup:p.Arg44fs	coding	Pathogenic
5	177994332	C	CTGCAGAACGGAGAGAGCACTGCAGAACGG	C177994334G	PROP1	NM_006261.5(PROP1):c.115_116insCCGTTCTGCAGTGCTCTCTCCGTTCTGCA:p.Ser39fs	coding	Pathogenic
5	177995858	G	GTC	A177995865T	PROP1	NM_006261.5(PROP1):c.74_75dup:p.His26fs	coding	Pathogenic/Likely_pathogenic
5	177995870	AC	A	C177995871A	PROP1	NM_006261.5(PROP1):c.63del:p.Leu22fs	coding	Pathogenic
5	178150867	AG	A	G178150872C	NHP2	NM_017838.4(NHP2):c.336+20del	noncoding	Benign
5	178151011	ACT	A	C178151012G	NHP2	NM_017838.4(NHP2):c.231-20_231-19del	noncoding	Benign
5	178982692	TAAAAAAA	T	A178982698G	GRM6	NM_000843.4(GRM6):c.2436+211_2436+217del	noncoding	Benign
5	178982692	TA	T	A178982704G	GRM6	NM_000843.4(GRM6):c.2436+217del	noncoding	Benign
5	178982692	T	TAA	G178982705A	GRM6	NM_000843.4(GRM6):c.2436+206_2436+207dup	noncoding	Benign
5	178982692	T	TA	G178982705A	GRM6	NM_000843.4(GRM6):c.2436+206dup	noncoding	Benign
5	178986134	A	AG	A178986138G	GRM6	NM_000843.4(GRM6):c.2119dup:p.Leu707fs	coding	Pathogenic
5	178986165	GT	G	T178986166G	GRM6	NM_000843.4(GRM6):c.2088del:p.Gln697fs	coding	Pathogenic
5	178986980	CT	C	T178986981G	GRM6	NM_000843.4(GRM6):c.1357del:p.Ser453fs	coding	Pathogenic
5	178989031	GGT	G	T178989033C	GRM6	NM_000843.4(GRM6):c.1256_1257del:p.His419fs	coding	Pathogenic
5	178989202	CCCCTCCCCA	C	C178989208A	GRM6	NM_000843.4(GRM6):c.1153+54_1153+62del	noncoding	Benign
5	178990582	CT	C	T178990583G	GRM6	NM_000843.4(GRM6):c.1012+9del	noncoding	Benign
5	178991301	T	TG	T178991308G	GRM6	NM_000843.4(GRM6):c.857+117dup	noncoding	Benign
5	178991553	A	AC	T178991561C	GRM6	NM_000843.4(GRM6):c.727dup	coding	Pathogenic
5	178991553	AC	A	C178991560T	GRM6	NC_000005.9:g.178418555del	coding	Pathogenic
5	178992278	G	GGGCAAGGTCT	T178992280G	GRM6	NM_000843.4(GRM6):c.505-196_505-195insCAGACCTTGC	noncoding	Benign
5	178994767	GCTGCCCGCACGCC	G	T178994769G	GRM6	NM_000843.4(GRM6):c.165_177del:p.Arg55_Ala56insTer	coding	Pathogenic
5	178994770	G	GCCCGCACGCCCGGCCCGCCGCGC	G178994799A	GRM6	NM_000843.4(GRM6):c.152_174dup:p.Gln59fs	coding	Pathogenic
5	179124958	CG	C	G179124963A	ADAMTS2	NM_014244.5(ADAMTS2):c.2958+14del	noncoding	Benign
5	179127949	A	AC	T179127955C	ADAMTS2	NM_014244.5(ADAMTS2):c.2617+9dup	noncoding	Benign
5	179128013	CCA	C	C179128016G	ADAMTS2	NM_014244.5(ADAMTS2):c.2561_2562del:p.Val854fs	coding	Pathogenic/Likely_pathogenic
5	179130016	CA	C	A179130017T	ADAMTS2	NM_014244.5(ADAMTS2):c.2372del:p.Met791fs	coding	Pathogenic
5	179132311	CT	C	T179132318G	ADAMTS2	NM_014244.5(ADAMTS2):c.2210-2del	coding	Benign
5	179137472	TC	T	C179137474A	ADAMTS2	NM_014244.5(ADAMTS2):c.1951+296del	noncoding	Benign
5	179138129	TCAG	T	C179138130G	ADAMTS2	NM_014244.5(ADAMTS2):c.1776-188_1776-186del	noncoding	Benign
5	179207502	AC	A	C179207506A	ADAMTS2	NM_014244.5(ADAMTS2):c.891+10del	noncoding	Benign
5	179273007	G	GC	T179273012C	ADAMTS2	NM_014244.5(ADAMTS2):c.591dup:p.Leu198fs	coding	Pathogenic
5	179343990	T	TC	T179343993C	ADAMTS2	NM_014244.5(ADAMTS2):c.310dup:p.Glu104fs	coding	Pathogenic
5	179344026	AC	A	C179344028G	ADAMTS2	NM_014244.5(ADAMTS2):c.274del:p.Val92fs	coding	Pathogenic
5	179345191	TG	T	G179345197T	ADAMTS2	NM_014244.5(ADAMTS2):c.137del:p.Pro46fs	coding	Pathogenic
5	179345205	C	CGGCGGCGAGCCTGGCGTTCGCG	G179345235A	ADAMTS2	NM_014244.5(ADAMTS2):c.102_123dup:p.Ala42fs	coding	Pathogenic
5	179345307	CG	C	G179345309C	ADAMTS2	NM_014244.5(ADAMTS2):c.21del:p.Ala8fs	coding	Pathogenic
5	179616182	T	TGCTG	G179616196C	HNRNPH1	NM_001257293.2(HNRNPH1):c.1240_1243dup:p.Gln415fs	coding	Pathogenic
5	179618241	G	GC	G179618244C	HNRNPH1	NM_001257293.2(HNRNPH1):c.618dup:p.Pro207fs	coding	Pathogenic
5	179823904	GGCGCCCCGCAACATGGT	G	G179823907A	SQSTM1	NM_003900.5(SQSTM1):c.351_367del:p.Arg119fs	coding	Pathogenic
5	179823968	AC	A	C179823971G	SQSTM1	NM_003900.5(SQSTM1):c.415del:p.Arg139fs	coding	Pathogenic
5	179825134	T	TA	T179825140A	SQSTM1	NM_003900.5(SQSTM1):c.674-7dup	noncoding	Benign
5	179832941	G	GT	G179832943T	SQSTM1	NM_003900.5(SQSTM1):c.755-90dup	noncoding	Benign
5	179833060	CGGAGGGAAAAGAAGCCGCCTGACCCCCGTCTCTCCAG	C	G179833061A	SQSTM1	NM_003900.5(SQSTM1):c.784_820del:p.Gly262fs	coding	Pathogenic
5	179833211	AGG	TGA	A179833211T	SQSTM1	NM_003900.5(SQSTM1):c.934_936delinsTGA:p.Arg312Ter	coding	Pathogenic
5	179833747	TGAAG	T	G179833752C	SQSTM1	NM_003900.5(SQSTM1):c.1135_1138del:p.Glu379fs	coding	Pathogenic
5	179833865	CAGA	C	A179833868G	SQSTM1	NM_003900.5(SQSTM1):c.1165+86_1165+88del	noncoding	Benign
5	179836419	CCTTA	C	T179836422G	SQSTM1	NM_003900.5(SQSTM1):c.1166-14_1166-11del	noncoding	Benign
5	179836439	CT	C	T179836440G	SQSTM1	NM_003900.5(SQSTM1):c.1170del:p.Asp391fs	coding	Pathogenic
5	179836767	C	CTG	C179836782T	SQSTM1	NM_003900.5(SQSTM1):c.*175TG[8]	noncoding	Benign/Likely_benign
5	180611248	T	TC	G180611253C	FLT4	NM_182925.5(FLT4):c.3686+79dup	noncoding	Benign
5	180611678	CCT	C	C180611679G	FLT4	NM_182925.5(FLT4):c.3538-201_3538-200del	noncoding	Benign
5	180614273	C	CCGCGG	T180614274C	FLT4	NM_182925.5(FLT4):c.3220-95_3220-94insCCGCG	noncoding	Benign
5	180614273	C	CCG	T180614274C	FLT4	NM_182925.5(FLT4):c.3220-95_3220-94insCG	noncoding	Benign
5	180618700	G	GGGTTACCCTA	G180618703T	FLT4	NM_182925.5(FLT4):c.3001+69_3001+70insCCTAGGGTAA	noncoding	Benign
5	180619426	C	CTGGCCGCTTAGCTAAGGCACAG	C180619427T	FLT4	NM_182925.5(FLT4):c.2648-61_2648-60insCTGTGCCTTAGCTAAGCGGCCA	noncoding	Benign
5	180619492	CAG	C	A180619495G	FLT4	NM_182925.5(FLT4):c.2648-128_2648-127del	noncoding	Benign
5	180620739	C	CGT	A180620758G	FLT4	NM_182925.5(FLT4):c.2300-42AC[10]	noncoding	Benign
5	180620739	C	CGTGT	A180620758G	FLT4	NM_182925.5(FLT4):c.2300-42AC[11]	noncoding	Benign
5	180621986	G	GCCTC	T180622003C	FLT4	NM_182925.5(FLT4):c.1658-98GAGG[5]	noncoding	Benign
5	180622923	GCAC	G	A180622928C	FLT4	NM_182925.5(FLT4):c.1549-87_1549-85del	noncoding	Benign
5	180622926	CCA	C	A180622928C	FLT4	NM_182925.5(FLT4):c.1549-89_1549-88del	noncoding	Benign
5	180622927	CA	C	A180622928C	FLT4	NM_182925.5(FLT4):c.1549-89del	noncoding	Benign
5	180622942	TG	T	G180622947A	FLT4	NM_182925.5(FLT4):c.1549-104del	noncoding	Benign
5	180624227	G	GT	G180624244T	FLT4	NM_182925.5(FLT4):c.1422-182dup	noncoding	Benign
5	180631050	AC	A	C180631053A	FLT4	NM_182925.5(FLT4):c.156-252del	noncoding	Benign
6	395238	T	TG	T395248G	IRF4	NM_002460.4(IRF4):c.403+240dup	noncoding	Benign
6	1610015	GCC	G	C1610028G	FOXC1	NM_001453.3(FOXC1):c.-418_-417del	noncoding	Benign
6	1610015	GC	G	C1610029G	FOXC1	NM_001453.3(FOXC1):c.-417del	noncoding	Benign
6	1610493	GC	G	C1610496T	FOXC1	NM_001453.3(FOXC1):c.51del:p.Tyr18fs	coding	Pathogenic
6	1610509	G	GA	G1610511A	FOXC1	NM_001453.3(FOXC1):c.65dup:p.Gln23fs	coding	Pathogenic
6	1610522	ACCGCGCGGCGGCCGCGGCGG	A	C1610526G	FOXC1	NM_001453.3(FOXC1):c.81_100del:p.Ala28fs	coding	Pathogenic
6	1610537	CGGCGGCCGGG	C	C1610544T	FOXC1	NM_001453.3(FOXC1):c.99_108del:p.Gly34fs	coding	Pathogenic
6	1610595	TGCGCACGCCGA	T	G1610598A	FOXC1	NM_001453.3(FOXC1):c.153_163del:p.His52fs	coding	Pathogenic
6	1610605	GA	G	A1610606G	FOXC1	NM_001453.3(FOXC1):c.161del:p.Glu54fs	coding	Pathogenic
6	1610619	C	CG	C1610622G	FOXC1	NM_001453.3(FOXC1):c.176dup:p.Met60fs	coding	Pathogenic
6	1610625	G	GA	G1610626A	FOXC1	NM_001453.3(FOXC1):c.180_181insA:p.Ala61fs	coding	Pathogenic
6	1610688	T	TA	G1610690A	FOXC1	NM_001453.3(FOXC1):c.244dup:p.Ser82fs	coding	Pathogenic
6	1610798	AC	A	C1610799A	FOXC1	NM_001453.3(FOXC1):c.354del:p.Asn118fs	coding	Pathogenic
6	1610841	CAACG	C	A1610843G	FOXC1	NM_001453.3(FOXC1):c.398_401del:p.Asn133fs	coding	Pathogenic
6	1610945	TC	T	C1610947T	FOXC1	NM_001453.3(FOXC1):c.502del:p.Leu168fs	coding	Pathogenic
6	1610948	TGCG	T	G1610961C	FOXC1	NM_001453.3(FOXC1):c.504GCG[4]:p.Arg173del	coding	Pathogenic
6	1611260	GC	G	C1611266G	FOXC1	NM_001453.3(FOXC1):c.821del:p.Pro274fs	coding	Pathogenic
6	1611260	G	GC	G1611267C	FOXC1	NM_001453.3(FOXC1):c.821dup:p.Ser276fs	coding	Pathogenic
6	1611261	CC	A	C1611261A	FOXC1	NM_001453.3(FOXC1):c.816_817delinsA:p.Ser272fs	coding	Pathogenic
6	1611404	C	CGCCGCAGAGCGCG	G1611423A	FOXC1	NM_001453.3(FOXC1):c.965_977dup:p.Leu328fs	coding	Pathogenic
6	1611480	A	AC	G1611486C	FOXC1	NM_001453.3(FOXC1):c.1040dup:p.Leu348fs	coding	Pathogenic
6	1611568	G	GGGC	C1611570G	FOXC1	NM_001453.3(FOXC1):c.1124_1125insGCG:p.Gly375_Gly376insArg	coding	Benign
6	1611583	G	GGGC	C1611585G	FOXC1	NM_001453.3(FOXC1):c.1139_1140insGCG:p.Gly380_Ala381insArg	coding	Benign
6	1611585	C	CG	C1611587G	FOXC1	NM_001453.3(FOXC1):c.1141dup:p.Ala381fs	coding	Pathogenic
6	1611635	T	TGCAA	C1611642A	FOXC1	NM_001453.3(FOXC1):c.1193_1196dup:p.Met400fs	coding	Pathogenic
6	1611783	C	CCGG	G1611784C	FOXC1	NM_001453.3(FOXC1):c.1338_1339insCGG:p.His446_Gly447insArg	coding	Benign
6	1611804	C	CCGG	G1611805C	FOXC1	NM_001453.3(FOXC1):c.1359_1360insCGG:p.Gly453_Gly454insArg	coding	Benign
6	1611874	CA	C	A1611875G	FOXC1	NM_001453.3(FOXC1):c.1430del:p.Gln477fs	coding	Pathogenic
6	1611906	CGCGGCGGCG	C	G1611918C	FOXC1	NM_001453.3(FOXC1):c.1464GGC[3]:p.Ala493_Ala495del	coding	Benign
6	1611951	GA	G	A1611953C	FOXC1	NM_001453.3(FOXC1):c.1508del:p.Asn503fs	coding	Pathogenic
6	2970724	CA	C	A2970744G	SERPINB6	NM_004568.6(SERPINB6):c.-11+808del	noncoding	Benign
6	2970724	C	CAAA	G2970745A	SERPINB6	NM_004568.6(SERPINB6):c.-11+789_-11+791dup	noncoding	Benign
6	2970724	C	CAA	G2970745A	SERPINB6	NM_004568.6(SERPINB6):c.-11+789_-11+790dup	noncoding	Benign
6	2970724	C	CA	G2970745A	SERPINB6	NM_004568.6(SERPINB6):c.-11+789dup	noncoding	Benign
6	2970961	A	AG	C2970967G	SERPINB6	NM_004568.6(SERPINB6):c.-11+567dup	coding	Benign
6	2970990	GA	G	A2970992C	SERPINB6	NM_004568.6(SERPINB6):c.-11+542del	coding	Benign
6	3077000	CA	C	A3077001G	RIPK1	NM_001354930.2(RIPK1):c.164+14del	noncoding	Benign
6	3083152	TGAGGG	T	G3083153A	RIPK1	NM_001354930.2(RIPK1):c.528_532del:p.Arg177fs	coding	Pathogenic
6	3110932	CT	TC	C3110932T	RIPK1	NM_001354930.2(RIPK1):c.1706_1707delinsTC:p.Ala569Val	coding	Benign
6	3113124	TGTGC	T	G3113125C	RIPK1	NM_001354930.2(RIPK1):c.1802_1805del:p.Cys601fs	coding	Pathogenic
6	3224590	GA	G	A3224599G	TUBB2B	NM_178012.5(TUBB2B):c.*160del	noncoding	Benign
6	5186983	TA	T	A5186998T	LYRM4	NM_020408.6(LYRM4):c.207+29634del	noncoding	Benign
6	5260742	G	GAA	T5260752A	LYRM4	NM_020408.6(LYRM4):c.-11_-10dup	noncoding	Benign
6	5261233	GAGGCCGCGTTGCCCGGGTTACCGA	G	G5261241C	LYRM4	NM_001318872.2(FARS2):c.-139_-116del	noncoding	Benign
6	5368994	GA	G	A5368995C	FARS2	NM_006567.5(FARS2):c.425del:p.Asp142fs	coding	Pathogenic
6	5404622	CA	C	A5404623C	FARS2	NM_006567.5(FARS2):c.694del:p.Thr232fs	coding	Pathogenic
6	5404771	G	GT	C5404788T	FARS2	NM_006567.5(FARS2):c.772+86dup	noncoding	Benign
6	5404771	GT	G	T5404787C	FARS2	NM_006567.5(FARS2):c.772+86del	noncoding	Benign
6	5431141	CG	C	G5431145T	FARS2	NM_006567.5(FARS2):c.877del:p.Gly292_Val293insTer	coding	Pathogenic
6	5545218	GGATTA	G	T5545221A	FARS2	NM_006567.5(FARS2):c.946_950del:p.Leu316fs	coding	Pathogenic/Likely_pathogenic
6	6174409	A	AAAG	A6174415G	F13A1	NM_000129.4(F13A1):c.1747+168_1747+170dup	noncoding	Benign
6	6174988	T	TC	A6174993C	F13A1	NM_000129.4(F13A1):c.1460-125dup	noncoding	Benign
6	6182038	ATTTG	A	T6182043G	F13A1	NM_000129.4(F13A1):c.1405_1408del:p.Gln469fs	coding	Pathogenic
6	6197237	T	TG	T6197244G	F13A1	NM_000129.4(F13A1):c.1201dup:p.Gln401fs	coding	Pathogenic
6	6251042	T	TA	T6251049A	F13A1	NM_000129.4(F13A1):c.572-119dup	noncoding	Benign
6	6266668	A	AGC	T6266669G	F13A1	NM_000129.4(F13A1):c.460_461insGC:p.Ile154fs	coding	Pathogenic
6	6305537	ACT	A	C6305540A	F13A1	NM_000129.4(F13A1):c.131_132del	coding	Pathogenic
6	6318688	G	GAAA	G6318703A	F13A1	NM_000129.4(F13A1):c.-18-20_-18-18dup	noncoding	Benign
6	6318688	G	GA	G6318703A	F13A1	NM_000129.4(F13A1):c.-18-20dup	noncoding	Benign
6	7542278	TC	T	C7542280T	DSP	NM_004415.4(DSP):c.170+195del	noncoding	Benign
6	7559087	G	GA	T7559097A	DSP	NM_004415.4(DSP):c.423-130dup	noncoding	Benign
6	7559210	G	GT	C7559218T	DSP	NM_004415.4(DSP):c.423-9dup	noncoding	Benign/Likely_benign
6	7559359	CAT	C	A7559360G	DSP	NM_004415.4(DSP):c.557_558del:p.His186fs	coding	Pathogenic
6	7562373	G	GTT	C7562388T	DSP	NM_004415.4(DSP):c.598-266_598-265dup	noncoding	Benign
6	7562673	TG	T	G7562677T	DSP	NM_004415.4(DSP):c.623del:p.Gly208fs	coding	Pathogenic
6	7562699	G	GC	A7562701C	DSP	NM_004415.4(DSP):c.646dup:p.Gln216fs	coding	Pathogenic
6	7562762	C	CA	T7562767A	DSP	NM_004415.4(DSP):c.712dup:p.Ile238fs	coding	Pathogenic/Likely_pathogenic
6	7565257	A	AT	A7565268T	DSP	NM_004415.4(DSP):c.778-92dup	noncoding	Benign
6	7565370	TGA	T	A7565374G	DSP	NM_004415.4(DSP):c.793_794del:p.Arg265fs	coding	Pathogenic
6	7565398	C	CA	G7565400A	DSP	NM_004415.4(DSP):c.818dup:p.Asn274fs	coding	Pathogenic
6	7565502	G	GA	C7565506A	DSP	NM_004415.4(DSP):c.924dup:p.Gln309fs	coding	Pathogenic
6	7565529	A	AC	A7565534C	DSP	NM_004415.4(DSP):c.939+13dup	noncoding	Benign/Likely_benign
6	7566438	AC	A	C7566440A	DSP	NM_004415.4(DSP):c.1003del:p.Gln335fs	coding	Pathogenic
6	7566444	T	TTG	C7566448G	DSP	NM_004415.4(DSP):c.1009_1010dup:p.Leu338fs	coding	Pathogenic
6	7566512	G	GA	C7566524A	DSP	NM_004415.4(DSP):c.1044+42dup	noncoding	Benign
6	7567406	AGT	A	T7567408C	DSP	NM_004415.4(DSP):c.1099_1100del:p.Cys367fs	coding	Pathogenic
6	7567824	TC	T	C7567826A	DSP	NM_004415.4(DSP):c.1186del:p.Gln396fs	coding	Pathogenic
6	7567868	C	CT	C7567869T	DSP	NM_004415.4(DSP):c.1228_1229insT:p.Pro410fs	coding	Pathogenic
6	7568462	AC	A	C7568463A	DSP	NM_004415.4(DSP):c.1293del:p.Glu430_Tyr431insTer	coding	Pathogenic
6	7569204	GA	G	A7569205T	DSP	NM_004415.4(DSP):c.1439del:p.Asp480fs	coding	Pathogenic
6	7570443	GC	G	C7570444A	DSP	NM_004415.4(DSP):c.1582del:p.Gln528fs	coding	Pathogenic
6	7570530	CAT	C	T7570532G	DSP	NM_004415.4(DSP):c.1670_1671del:p.Ile557fs	coding	Pathogenic/Likely_pathogenic
6	7571176	CA	C	A7571194T	DSP	NM_004415.4(DSP):c.1702-189del	noncoding	Benign
6	7571176	C	CA	T7571195A	DSP	NM_004415.4(DSP):c.1702-189dup	noncoding	Benign
6	7571390	CAA	C	A7571391T	DSP	NM_004415.4(DSP):c.1710_1711del:p.Met571fs	coding	Pathogenic
6	7571877	C	CA	G7571880A	DSP	NM_004415.4(DSP):c.1941dup:p.Asp648fs	coding	Pathogenic
6	7571997	AC	A	C7571998T	DSP	NM_004415.4(DSP):c.2060del:p.Thr687fs	coding	Pathogenic
6	7574103	AC	A	C7574104A	DSP	NM_004415.4(DSP):c.2149del:p.Gln717fs	coding	Pathogenic
6	7574139	T	TA	T7574141A	DSP	NM_004415.4(DSP):c.2185dup:p.Met729fs	coding	Pathogenic
6	7575449	C	CAG	C7575453G	DSP	NM_004415.4(DSP):c.2593_2594dup:p.Asp865fs	coding	Pathogenic
6	7576313	CAA	C	A7576315T	DSP	NM_004415.4(DSP):c.2652_2653del:p.Gln884fs	coding	Pathogenic
6	7576317	TC	T	C7576318A	DSP	NM_004415.4(DSP):c.2655del:p.Lys886fs	coding	Pathogenic
6	7576438	G	GT	G7576444T	DSP	NM_004415.4(DSP):c.2780dup:p.Leu927fs	coding	Pathogenic
6	7576996	CA	C	A7576997G	DSP	NM_004415.4(DSP):c.2832del:p.Glu945fs	coding	Pathogenic
6	7576996	CAG	C	A7576999G	DSP	NM_004415.4(DSP):c.2834_2835del:p.Glu945fs	coding	Pathogenic
6	7577006	AC	A	C7577007A	DSP	NM_004415.4(DSP):c.2842del:p.Gln948fs	coding	Pathogenic
6	7577321	GTGTT	G	T7577344G	DSP	NM_004415.4(DSP):c.2877+280TGTT[5]	noncoding	Benign
6	7577803	T	TA	C7577805A	DSP	NM_004415.4(DSP):c.2903dup:p.Tyr968Ter	coding	Pathogenic
6	7577880	G	GC	A7577882C	DSP	NM_004415.4(DSP):c.2980dup:p.Gln994fs	coding	Pathogenic/Likely_pathogenic
6	7578159	TGAGA	T	G7578164C	DSP	NM_004415.4(DSP):c.2985+274GA[2]	noncoding	Benign
6	7578521	AG	A	G7578523T	DSP	NM_004415.4(DSP):c.3045del:p.Arg1015fs	coding	Pathogenic
6	7578530	AGT	A	T7578532A	DSP	NM_004415.4(DSP):c.3054_3055del:p.Ser1018fs	coding	Pathogenic
6	7579159	CCA	C	C7579160T	DSP	NM_004415.4(DSP):c.3085-115_3085-114del	noncoding	Benign
6	7579283	TA	T	A7579284C	DSP	NM_004415.4(DSP):c.3094del:p.Thr1032fs	coding	Pathogenic
6	7579379	G	GA	T7579383A	DSP	NM_004415.4(DSP):c.3192dup:p.Tyr1065fs	coding	Pathogenic
6	7579527	CG	C	G7579528A	DSP	NM_004415.4(DSP):c.3338del:p.Arg1113fs	coding	Pathogenic/Likely_pathogenic
6	7579534	CT	C	T7579536A	DSP	NM_004415.4(DSP):c.3346del:p.Tyr1116fs	coding	Pathogenic
6	7579578	G	GCTTCC	A7579579C	DSP	NM_004415.4(DSP):c.3388_3389insCTTCC:p.Asp1130fs	coding	Pathogenic
6	7579635	GA	G	A7579639G	DSP	NM_004415.4(DSP):c.3449del:p.Lys1150fs	coding	Pathogenic
6	7579682	C	CA	G7579685A	DSP	NM_004415.4(DSP):c.3494dup:p.Glu1166fs	coding	Pathogenic
6	7579754	T	TGAAAATGAGCTGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A7579769G	DSP	NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC:p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
6	7579798	T	TAC	G7579799A	DSP	NM_004415.4(DSP):c.3608_3609insAC:p.Met1203fs	coding	Pathogenic
6	7579801	GT	G	T7579802A	DSP	NM_004415.4(DSP):c.3612del:p.Ser1204fs	coding	Pathogenic
6	7579825	CAG	C	G7579829T	DSP	NM_004415.4(DSP):c.3639_3640del:p.Glu1213fs	coding	Pathogenic
6	7579869	CA	C	A7579874G	DSP	NM_004415.4(DSP):c.3684del:p.Glu1229fs	coding	Pathogenic
6	7579944	GA	G	A7579947T	DSP	NM_004415.4(DSP):c.3757del:p.Ile1253fs	coding	Pathogenic
6	7580097	TCTGAGGACAATGC	T	T7580099C	DSP	NM_004415.4(DSP):c.3909_3921del:p.Glu1304fs	coding	Pathogenic
6	7580338	AGAAG	A	G7580343A	DSP	NM_004415.4(DSP):c.4153_4156del:p.Glu1385fs	coding	Pathogenic/Likely_pathogenic
6	7580424	CTG	C	T7580425A	DSP	NM_004415.4(DSP):c.4235_4236del:p.Leu1412fs	coding	Pathogenic
6	7580491	AGGCCACT	A	C7580495T	DSP	NM_004415.4(DSP):c.4305_4311del:p.Thr1436fs	coding	Pathogenic
6	7580527	A	ATGCT	G7580528T	DSP	NM_004415.4(DSP):c.4337_4338insTGCT:p.Gln1446fs	coding	Pathogenic
6	7580572	AGAGC	A	A7580574T	DSP	NM_004415.4(DSP):c.4384_4387del:p.Glu1461_Ser1462insTer	coding	Pathogenic
6	7580585	T	TA	G7580588A	DSP	NM_004415.4(DSP):c.4397dup:p.Gln1467fs	coding	Pathogenic/Likely_pathogenic
6	7580622	G	GATAAAAACAAGGAGATAGAAAGGTTAAAACA	C7580655T	DSP	NM_004415.4(DSP):c.4434_4464dup:p.Leu1489Ter	coding	Pathogenic
6	7580623	A	AT	A7580625T	DSP	NM_004415.4(DSP):c.4434dup:p.Lys1479Ter	coding	Pathogenic
6	7580707	GA	G	A7580708T	DSP	NM_004415.4(DSP):c.4518del:p.Arg1506fs	coding	Pathogenic/Likely_pathogenic
6	7580762	A	AAT	A7580766T	DSP	NM_004415.4(DSP):c.4574_4575dup:p.Asn1526Ter	coding	Pathogenic
6	7580764	TAAAC	T	A7580769T	DSP	NM_004415.4(DSP):c.4579_4582del:p.Asn1526_Lys1527insTer	coding	Pathogenic
6	7580796	ACACGC	A	A7580798T	DSP	NM_004415.4(DSP):c.4608_4612del:p.Arg1537fs	coding	Pathogenic/Likely_pathogenic
6	7580872	ACT	A	C7580877G	DSP	NM_004415.4(DSP):c.4687_4688del:p.Leu1563fs	coding	Pathogenic
6	7580938	CCG	C	C7580941T	DSP	NM_004415.4(DSP):c.4751_4752del:p.Ala1584fs	coding	Pathogenic
6	7580941	CGTCAGAA	C	T7580943A	DSP	NM_004415.4(DSP):c.4753_4759del:p.Ser1585fs	coding	Pathogenic
6	7581071	GA	G	A7581072G	DSP	NM_004415.4(DSP):c.4882del:p.Arg1628fs	coding	Pathogenic
6	7581193	T	TA	C7581195A	DSP	NM_004415.4(DSP):c.5004dup:p.Leu1669fs	coding	Pathogenic
6	7581207	G	GA	G7581211A	DSP	NM_004415.4(DSP):c.5020dup:p.Ser1674fs	coding	Pathogenic
6	7581252	GCGATAGAAGA	G	C7581253T	DSP	NM_004415.4(DSP):c.5063_5072del:p.Ala1688fs	coding	Pathogenic
6	7581505	AT	A	T7581508A	DSP	NM_004415.4(DSP):c.5318del:p.Leu1773fs	coding	Pathogenic
6	7581510	CAG	C	A7581519G	DSP	NM_004415.4(DSP):c.5329_5330del:p.Arg1777fs	coding	Pathogenic
6	7582664	CAAAGAATCAGTGTACTCAGGTG	TGA	C7582664T	DSP	NM_004415.4(DSP):c.5402_5424delinsTGA:p.Ser1801fs	coding	Pathogenic
6	7582713	GA	G	A7582717T	DSP	NM_004415.4(DSP):c.5455del:p.Ile1819fs	coding	Pathogenic
6	7582723	GT	G	T7582724C	DSP	NM_004415.4(DSP):c.5462del:p.Val1821fs	coding	Pathogenic
6	7582811	AACAGC	A	A7582812G	DSP	NM_004415.4(DSP):c.5550_5554del:p.Gln1851fs	coding	Pathogenic
6	7582922	AGAGT	A	T7582926A	DSP	NM_004415.4(DSP):c.5664_5667del:p.Ser1888fs	coding	Pathogenic
6	7582926	TGAGA	T	G7582933A	DSP	NM_004415.4(DSP):c.5671_5674del:p.Glu1891fs	coding	Pathogenic
6	7582926	T	TGA	A7582937G	DSP	NM_004415.4(DSP):c.5673_5674dup:p.Lys1892fs	coding	Pathogenic
6	7582933	GAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCAC	AGAACAGTCTT	G7582933A	DSP	NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT	coding	Pathogenic
6	7582933	GAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCAC	AGAGAAGAACAGTCTT	G7582933A	DSP	NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT	coding	Pathogenic
6	7583112	TC	AT	T7583112A	DSP	NM_004415.4(DSP):c.5850_5851delinsAT:p.His1950_Arg1951delinsGlnTer	coding	Pathogenic
6	7583148	C	CA	C7583150A	DSP	NM_004415.4(DSP):c.5887dup:p.Thr1963fs	coding	Pathogenic
6	7583204	A	AT	G7583206T	DSP	NM_004415.4(DSP):c.5943dup:p.Glu1982Ter	coding	Pathogenic
6	7583260	TC	T	C7583261A	DSP	NM_004415.4(DSP):c.5999del:p.Lys1999_Ser2000insTer	coding	Pathogenic
6	7583341	G	GA	T7583347A	DSP	NM_004415.4(DSP):c.6084dup:p.Tyr2029fs	coding	Pathogenic
6	7583430	TG	T	G7583432T	DSP	NM_004415.4(DSP):c.6170del:p.Gly2057fs	coding	Pathogenic
6	7583530	GA	G	A7583535G	DSP	NM_004415.4(DSP):c.6273del:p.Ala2092fs	coding	Pathogenic/Likely_pathogenic
6	7583546	G	GT	G7583551T	DSP	NM_004415.4(DSP):c.6288dup:p.Asp2097Ter	coding	Pathogenic
6	7583579	CT	C	T7583580G	DSP	NM_004415.4(DSP):c.6318del:p.Val2107fs	coding	Pathogenic
6	7583597	AG	A	G7583598A	DSP	NM_004415.4(DSP):c.6336del:p.Asn2114fs	coding	Pathogenic
6	7583775	CT	C	T7583778G	DSP	NM_004415.4(DSP):c.6516del:p.Phe2172fs	coding	Pathogenic
6	7583822	AG	A	G7583824A	DSP	NM_004415.4(DSP):c.6562del:p.Glu2188fs	coding	Pathogenic
6	7583957	CTG	C	G7583959C	DSP	NM_004415.4(DSP):c.6697_6698del:p.Val2233fs	coding	Pathogenic
6	7584027	G	GGT	G7584029T	DSP	NM_004415.4(DSP):c.6766_6767insTG:p.Gly2256fs	coding	Pathogenic
6	7584197	TG	T	G7584199A	DSP	NM_004415.4(DSP):c.6937del:p.Glu2313fs	coding	Pathogenic/Likely_pathogenic
6	7584340	G	GA	G7584345A	DSP	NM_004415.4(DSP):c.7082dup:p.His2363fs	coding	Pathogenic
6	7584439	AAG	A	A7584442G	DSP	NM_004415.4(DSP):c.7180_7181del:p.Arg2394fs	coding	Pathogenic
6	7584631	CAA	C	A7584634G	DSP	NM_004415.4(DSP):c.7372_7373del:p.Lys2458fs	coding	Pathogenic/Likely_pathogenic
6	7584652	CGTAGAGTG	C	A7584655C	DSP	NM_004415.4(DSP):c.7393_7400del:p.Arg2465fs	coding	Pathogenic
6	7584788	CG	C	G7584791A	DSP	NM_004415.4(DSP):c.7529del:p.Gly2510fs	coding	Pathogenic
6	7584829	AAGAC	A	A7584832G	DSP	NM_004415.4(DSP):c.7570_7573del:p.Thr2524fs	coding	Pathogenic
6	7585081	AG	A	G7585082C	DSP	NM_004415.4(DSP):c.7820del:p.Ser2607fs	coding	Pathogenic
6	10400214	TA	T	A10400229T	TFAP2A	NM_001372066.1(TFAP2A):c.1031+233del	noncoding	Benign
6	10400801	CAAG	C	A10400806C	TFAP2A	NM_001372066.1(TFAP2A):c.890-215_890-213del	noncoding	Benign
6	10402205	C	CAG	A10402207G	TFAP2A	NM_001372066.1(TFAP2A):c.889+286_889+287insTC	noncoding	Benign
6	10402533	CGTCTCCCTGCAGGCAG	ATCCT	C10402533A	TFAP2A	NM_001372066.1(TFAP2A):c.832_848delinsAGGAT:p.Leu278_Arg283delinsArgIle	coding	Pathogenic
6	10404471	C	CGCGGG	C10404487G	TFAP2A	NM_001372066.1(TFAP2A):c.770+22CCCGC[4]	noncoding	Benign
6	10404563	GCCGCTGCACTTC	G	C10404565G	TFAP2A	NM_001372066.1(TFAP2A):c.703_714del:p.Glu235_Arg238del	coding	Pathogenic
6	10404792	TC	T	C10404794T	TFAP2A	NM_001372066.1(TFAP2A):c.539-54del	noncoding	Benign
6	10412502	AG	A	G10412507C	TFAP2A	NM_001372066.1(TFAP2A):c.52-2168del	noncoding	Benign
6	10557493	CT	C	T10557505G	GCNT2	NM_145649.5(GCNT2):c.925+27669del	noncoding	Benign
6	10770178	AAAGG	A	G10770185T	MAK	NM_001242957.3(MAK):c.1721_1724del:p.Ser574fs	coding	Pathogenic
6	10784455	CT	C	T10784456G	MAK	NM_001242957.3(MAK):c.1433del:p.Gln478fs	coding	Pathogenic
6	10784521	CTT	C	T10784522G	MAK	NM_001242957.3(MAK):c.1366_1367del:p.Lys456fs	coding	Pathogenic/Likely_pathogenic
6	10784531	CCT	C	C10784532G	MAK	NM_001242957.3(MAK):c.1356_1357del:p.Glu454fs	coding	Pathogenic/Likely_pathogenic
6	10784586	GA	G	A10784589G	MAK	NM_001242957.3(MAK):c.1317-15del	noncoding	Benign
6	10791768	TC	T	C10791771A	MAK	NM_001242957.3(MAK):c.1222del:p.Glu408fs	coding	Pathogenic
6	10791823	TA	T	A10791824T	MAK	NM_001242957.3(MAK):c.1167del:p.His389fs	coding	Pathogenic
6	10796055	CTG	C	G10796057T	MAK	NM_001242957.3(MAK):c.1084_1085del:p.Gln362fs	coding	Pathogenic
6	10796178	AG	A	G10796180C	MAK	NM_001242957.3(MAK):c.962del:p.Pro321fs	coding	Pathogenic
6	10796226	CTTAT	C	T10796230A	MAK	NM_001242957.3(MAK):c.911_914del:p.Asn304fs	coding	Pathogenic
6	10796238	CTG	C	G10796240T	MAK	NM_001242957.3(MAK):c.901_902del:p.Gln301fs	coding	Pathogenic
6	10801976	A	AAG	T10801981A	MAK	NM_001242957.3(MAK):c.745_746dup:p.Ile250fs	coding	Pathogenic
6	10801976	AAG	A	A10801979T	MAK	NM_001242957.3(MAK):c.745_746del:p.Leu249fs	coding	Pathogenic
6	10803822	T	TC	A10803825C	MAK	NM_001242957.3(MAK):c.560dup:p.Ser188fs	coding	Pathogenic
6	10808825	TA	T	A10808827T	MAK	NM_001242957.3(MAK):c.475del:p.Tyr159fs	coding	Pathogenic
6	10808959	GA	G	A10808968T	MAK	NM_001242957.3(MAK):c.359-18del	noncoding	Benign
6	10808959	G	GA	T10808969A	MAK	NM_001242957.3(MAK):c.359-18dup	noncoding	Benign
6	10813661	G	GC	A10813664C	MAK	NM_001242957.3(MAK):c.340dup:p.Ala114fs	coding	Pathogenic
6	10817839	TA	T	A10817844C	MAK	NM_001242957.3(MAK):c.278+10del	noncoding	Benign
6	10830641	C	CG	T10830644G	MAK	NM_001242957.3(MAK):c.7dup:p.Arg3fs	coding	Pathogenic
6	10874115	TG	T	G10874117C	GCM2	NM_004752.4(GCM2):c.1400del:p.Pro467fs	coding	Pathogenic
6	10874126	GA	G	A10874128T	GCM2	NM_004752.4(GCM2):c.1389del:p.His465fs	coding	Pathogenic
6	10881551	GGTATGTGTGT	G	A10881554G	GCM2	NM_004752.4(GCM2):c.90+143_90+152del	noncoding	Benign
6	10881551	GGTATGTGTGTGTGTGTGT	G	A10881554G	GCM2	NM_004752.4(GCM2):c.90+135_90+152del	noncoding	Benign
6	10881554	ATG	A	G10881606A	GCM2	NM_004752.4(GCM2):c.90+98CA[25]	noncoding	Benign
6	10881554	ATGTG	A	G10881604A	GCM2	NM_004752.4(GCM2):c.90+98CA[24]	noncoding	Benign
6	10881554	ATGTGTG	A	G10881602A	GCM2	NM_004752.4(GCM2):c.90+98CA[23]	noncoding	Benign
6	10881554	ATGTGTGTG	A	G10881600A	GCM2	NM_004752.4(GCM2):c.90+98CA[22]	noncoding	Benign
6	10881554	ATGTGTGTGTGTGTGTGTG	A	G10881590A	GCM2	NM_004752.4(GCM2):c.90+98CA[17]	noncoding	Benign
6	12295917	A	AT	A12295925T	EDN1	NM_001955.5(EDN1):c.534-38dup	noncoding	Benign
6	13281154	ACT	A	C13281157G	LOC100130357;PHACTR1;TBC1D7-LOC100130357	NM_030948.6(PHACTR1):c.1510-2265_1510-2264del	coding	Benign
6	13316548	CAA	C	A13316561G	TBC1D7	NM_016495.6(TBC1D7):c.519+21_519+22del	noncoding	Benign
6	13316548	CA	C	A13316562G	TBC1D7	NM_016495.6(TBC1D7):c.519+22del	noncoding	Benign
6	13326462	C	CA	G13326478A	TBC1D7	NM_016495.6(TBC1D7):c.112+310dup	noncoding	Benign
6	15374244	CTG	C	T15374247A	JARID2	NM_004973.4(JARID2):c.176_177del:p.Val59fs	coding	Pathogenic
6	15496729	GC	G	C15496731A	JARID2	NM_004973.4(JARID2):c.1506del:p.Thr503fs	coding	Pathogenic
6	15500975	A	AT	C15500976T	JARID2	NM_004973.4(JARID2):c.2014_2015insT:p.Thr672fs	coding	Pathogenic
6	15524263	AAAAC	A	A15524270G	DTNBP1	NM_032122.5(DTNBP1):c.811+259_811+262del	coding	Benign
6	15524878	C	CT	C15524881T	DTNBP1	NM_032122.5(DTNBP1):c.668-211dup	noncoding	Benign
6	15593088	G	GAA	G15593103A	DTNBP1	NM_032122.5(DTNBP1):c.489-9_489-8dup	noncoding	Benign
6	15593364	AAC	A	C15593368G	DTNBP1	NM_032122.5(DTNBP1):c.489-285_489-284del	noncoding	Benign
6	15615121	T	TA	G15615129A	DTNBP1	NM_032122.5(DTNBP1):c.488+139dup	noncoding	Benign
6	15627790	GA	G	A15627802C	DTNBP1	NM_032122.5(DTNBP1):c.223-316del	noncoding	Benign
6	15637801	AT	A	T15637802A	DTNBP1	NM_032122.5(DTNBP1):c.164del:p.Tyr55fs	coding	Pathogenic
6	15652103	CT	C	T15652107G	DTNBP1	NM_032122.5(DTNBP1):c.93del:p.Lys31_Val32insTer	coding	Pathogenic
6	16327633	G	GTGCTGCTGC	A16327678C	ATXN1	NM_001128164.2(ATXN1):c.636GCA[17]:p.Gln225_His226insGlnGlnGln	coding	Pathogenic
6	16327633	G	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	A16327678C	ATXN1	NM_001128164.2(ATXN1):c.636GCA[25]:p.Gln225_His226insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	coding	Pathogenic
6	16327633	GTGC	G	C16327675A	ATXN1	NM_001128164.2(ATXN1):c.636GCA[13]:p.Gln225del	coding	Pathogenic
6	16327681	CTGA	C	A16327684C	ATXN1	NM_001128164.2(ATXN1):c.627_629del:p.His209del	coding	Pathogenic
6	16327684	A	ATGCTGC	C16327725G	ATXN1	NM_001128164.2(ATXN1):c.588GCA[15]:p.Gln208_His209insGlnGln	coding	Pathogenic
6	18121726	ACCCTGGTGCTGCAAAC	A	T18121730A	NHLRC1	NM_198586.3(NHLRC1):c.865_880del:p.Gly288_Val289insTer	coding	Pathogenic
6	18121807	A	AC	T18121812C	NHLRC1	NM_198586.3(NHLRC1):c.799dup:p.Val267fs	coding	Pathogenic
6	18121807	AC	A	C18121811T	NHLRC1	NM_198586.3(NHLRC1):c.799del:p.Val267fs	coding	Pathogenic
6	18121933	GGGGT	G	G18121936T	NHLRC1	NM_198586.3(NHLRC1):c.670_673del:p.Thr224fs	coding	Pathogenic
6	18122023	TC	T	C18122024G	NHLRC1	NM_198586.3(NHLRC1):c.583del:p.Asp195fs	coding	Pathogenic
6	18122569	T	TGA	C18122571A	NHLRC1	NM_198586.3(NHLRC1):c.37_38insTC:p.His13fs	coding	Pathogenic
6	21596118	ATC	A	T21596119A	SOX4	NM_003107.3(SOX4):c.*160_*161del	noncoding	Benign
6	24174451	T	TTACAAA	G24174457A	DCDC2	NM_016356.5(DCDC2):c.*278_*279insTTTGTA	noncoding	Benign
6	24175094	CTTTA	C	A24175098T	DCDC2	NM_016356.5(DCDC2):c.1327-264_1327-261del	noncoding	Benign
6	24204846	T	TG	T24204849G	DCDC2	NM_016356.5(DCDC2):c.1023+154dup	noncoding	Benign
6	24205082	CA	C	A24205083G	DCDC2	NM_016356.5(DCDC2):c.942del:p.Gly315fs	coding	Pathogenic/Likely_pathogenic
6	24277792	TG	T	G24277793A	DCDC2	NM_016356.5(DCDC2):c.922+256del	noncoding	Benign
6	24290697	T	TA	C24290707A	DCDC2	NM_016356.5(DCDC2):c.704+226dup	noncoding	Benign
6	24291077	GC	G	C24291079T	DCDC2	NM_016356.5(DCDC2):c.558delG:p.Arg186fs	coding	Pathogenic
6	24301734	TCA	T	C24301735G	DCDC2	NM_016356.5(DCDC2):c.536_537del:p.Leu179fs	coding	Pathogenic
6	24302059	G	GA	T24302068A	DCDC2	NM_016356.5(DCDC2):c.349-16dup	noncoding	Benign
6	24302294	GAAA	G	A24302306C	DCDC2	NM_016356.5(DCDC2):c.349-253_349-251del	noncoding	Benign
6	24302294	G	GAAA	C24302309A	DCDC2	NM_016356.5(DCDC2):c.349-264_349-262dup	noncoding	Benign
6	24302294	G	GAA	C24302309A	DCDC2	NM_016356.5(DCDC2):c.349-264_349-263dup	noncoding	Benign
6	24302294	G	GA	C24302309A	DCDC2	NM_016356.5(DCDC2):c.349-264dup	noncoding	Benign
6	24302304	A	AC	A24302305C	DCDC2	NM_016356.5(DCDC2):c.349-261_349-260insG	noncoding	Benign
6	24353778	TA	T	A24353783C	DCDC2	NM_016356.5(DCDC2):c.294-156del	noncoding	Benign
6	24495026	T	TG	C24495031G	ALDH5A1	NM_001080.3(ALDH5A1):c.34dup:p.Ala12fs	coding	Pathogenic
6	24495030	GCC	G	C24495032G	ALDH5A1	NM_001080.3(ALDH5A1):c.36_37del:p.Arg13fs	coding	Pathogenic
6	24495271	AC	A	C24495272T	ALDH5A1	NM_001080.3(ALDH5A1):c.276del:p.Cys93fs	coding	Pathogenic
6	24502545	AGT	A	T24502547G	ALDH5A1	NM_001080.3(ALDH5A1):c.379_380del:p.Trp127fs	coding	Pathogenic
6	24502591	AAT	A	A24502592C	ALDH5A1	NM_001080.3(ALDH5A1):c.424_425del:p.Ile142fs	coding	Pathogenic
6	24503024	AG	A	G24503025A	ALDH5A1	NM_001080.3(ALDH5A1):c.439-238del	noncoding	Benign
6	24503326	TCTGAGGAAGCCCGCCG	T	C24503327T	ALDH5A1	NM_001080.3(ALDH5A1):c.503_518del:p.Ser168fs	coding	Pathogenic
6	24504710	C	CG	T24504718G	ALDH5A1	NM_001080.3(ALDH5A1):c.610-152dup	noncoding	Benign
6	24504915	TGGCAGCC	T	A24504919T	ALDH5A1	NM_001080.3(ALDH5A1):c.660_666del:p.Ala221fs	coding	Pathogenic
6	24515166	GCTTGCAAGC	G	T24515168A	ALDH5A1	NM_001080.3(ALDH5A1):c.728_736del:p.Leu243_Ser245del	noncoding	Pathogenic
6	24520423	ACT	A	C24520426G	ALDH5A1	NM_001080.3(ALDH5A1):c.896_897del:p.Ser299fs	coding	Pathogenic
6	24520496	C	CCA	G24520499C	ALDH5A1	NM_001080.3(ALDH5A1):c.967_968dup:p.Gln323fs	coding	Pathogenic
6	24522501	G	GTGTGTGTGTGTA	A24522505G	ALDH5A1	NM_001080.3(ALDH5A1):c.1015-263_1015-262insGTGTGTGTATGT	noncoding	Benign
6	24522501	G	GTGTGTGTGTGTGTA	A24522505G	ALDH5A1	NM_001080.3(ALDH5A1):c.1015-263_1015-262insGTGTGTGTGTATGT	noncoding	Benign
6	24527903	GA	G	A24527912T	ALDH5A1	NM_001080.3(ALDH5A1):c.1174-85del	noncoding	Benign
6	24528166	AG	A	G24528167T	ALDH5A1	NM_001080.3(ALDH5A1):c.1343+1del	coding	Pathogenic
6	24528364	A	AT	C24528375T	ALDH5A1	NM_001080.3(ALDH5A1):c.1343+208dup	noncoding	Benign
6	24528369	TTTTTTC	T	C24528375G	ALDH5A1	NM_001080.3(ALDH5A1):c.1343+209_1343+214del	noncoding	Benign
6	24653139	TC	T	C24653141T	TDP2	NM_016614.3(TDP2):c.650del:p.Gly217fs	coding	Pathogenic
6	24781239	A	AAAT	T24781246A	GMNN	NM_015895.5(GMNN):c.130-237AAT[3]	noncoding	Benign
6	24806511	C	CTT	A24806512T	RIPOR2	NM_001286445.3(RIPOR2):c.3044-39_3044-38insAA	noncoding	Benign
6	24828338	CCATT	C	T24828357A	RIPOR2	NM_001286445.3(RIPOR2):c.2507-63AATG[4]	noncoding	Benign
6	24828338	C	CCATT	A24828361T	RIPOR2	NM_001286445.3(RIPOR2):c.2507-63AATG[6]	noncoding	Benign
6	24839358	C	CT	G24839369T	RIPOR2	NM_001286445.3(RIPOR2):c.1858-96dup	noncoding	Benign
6	24843698	C	CGT	A24843745G	RIPOR2	NM_001286445.3(RIPOR2):c.1165-190AC[24]	noncoding	Benign
6	24843698	CGT	C	G24843743A	RIPOR2	NM_001286445.3(RIPOR2):c.1165-190AC[22]	noncoding	Benign
6	24843698	CGTGT	C	G24843741A	RIPOR2	NM_001286445.3(RIPOR2):c.1165-190AC[21]	noncoding	Benign
6	24843698	CGTGTGTGTGTGTGT	C	G24843731A	RIPOR2	NM_001286445.3(RIPOR2):c.1165-190AC[16]	noncoding	Benign
6	24869316	AT	A	T24869334G	RIPOR2	NM_001286445.3(RIPOR2):c.448-170del	noncoding	Benign
6	24869316	ATT	A	T24869333G	RIPOR2	NM_001286445.3(RIPOR2):c.448-171_448-170del	noncoding	Benign
6	24869316	ATTT	A	T24869332G	RIPOR2	NM_001286445.3(RIPOR2):c.448-172_448-170del	noncoding	Benign
6	24875585	C	CG	C24875586G	RIPOR2	NM_001286445.3(RIPOR2):c.188+105_188+106insC	noncoding	Benign
6	24875586	C	CG	C24875593G	RIPOR2	NM_001286445.3(RIPOR2):c.188+104dup	noncoding	Benign
6	25042058	TA	T	A25042072G	RIPOR2	NM_001286446.3(RIPOR2):c.-133del	noncoding	Benign
6	25042058	T	TA	G25042073A	RIPOR2	NM_001286446.3(RIPOR2):c.-133dup	noncoding	Benign
6	26091040	AG	A	G26091043T	HFE	NM_000410.4(HFE):c.279del:p.Trp94fs	coding	Pathogenic
6	26091450	AC	A	C26091453A	HFE	NM_000410.4(HFE):c.480del:p.Arg161fs	coding	Pathogenic
6	26092691	CT	C	T26092694G	HFE	NM_000410.4(HFE):c.626del:p.Leu209fs	coding	Pathogenic
6	26094198	GGCACTACGTCTTA	G	A26094201T	HFE	NM_000410.4(HFE):c.1022_1034del:p.His341fs	coding	Pathogenic
6	26156750	T	TA	G26156756A	H1-4	NM_005321.3(H1-4):c.365dup:p.Ala123fs	coding	Pathogenic
6	26156785	C	CA	G26156787A	H1-4	NM_005321.3(H1-4):c.396dup:p.Gly133fs	coding	Pathogenic
6	26156804	C	CAAGA	G26156810A	H1-4	NM_005321.3(H1-4):c.416_419dup:p.Ala141fs	coding	Pathogenic
6	26156820	G	GC	G26156822C	H1-4	NM_005321.3(H1-4):c.431dup:p.Ala145fs	coding	Pathogenic
6	26156831	C	CA	G26156834A	H1-4	NM_005321.3(H1-4):c.443dup:p.Lys149fs	coding	Pathogenic
6	29672289	AAAAT	A	T29672333A	ZFP57	NM_206809.4(MOG):c.*1108TAAA[10]	noncoding	Benign
6	29673652	TA	T	A29673653G	ZFP57	NM_001109809.5(ZFP57):c.458del:p.Leu153fs	coding	Pathogenic
6	29675201	C	CAACTTGAA	G29675210A	ZFP57	NM_001109809.5(ZFP57):c.352+177_352+184dup	noncoding	Benign
6	29675985	C	CCTCT	G29675990C	ZFP57	NM_001109809.5(ZFP57):c.194_197dup:p.Val67fs	coding	Pathogenic
6	29676049	GT	G	T29676050G	ZFP57	NM_001109809.5(ZFP57):c.133del:p.Thr45fs	coding	Pathogenic
6	30724516	TG	T	G30724524T	TUBB	NM_178014.4(TUBB):c.*127del	noncoding	Benign
6	30724516	T	TG	T30724525G	TUBB	NM_178014.4(TUBB):c.*127dup	noncoding	Benign
6	30914103	AG	A	G30914104C	VARS2	NM_001517.5(GTF2H4):c.*121del	noncoding	Benign
6	30916101	AAAGCAACC	A	A30916110T	VARS2	NM_020442.6(VARS2):c.574-42_574-35del	noncoding	Benign
6	30916453	C	CGT	A30916478G	VARS2	NM_020442.6(VARS2):c.671+205GT[13]	noncoding	Benign
6	30916453	C	CGTGT	A30916478G	VARS2	NM_020442.6(VARS2):c.671+205GT[14]	noncoding	Benign
6	30916465	T	TGTGG	T30916469G	VARS2	NM_020442.6(VARS2):c.671+219_671+220insGGTG	noncoding	Benign
6	30916478	A	ATT	A30916482T	VARS2	NM_020442.6(VARS2):c.671+231_671+232dup	noncoding	Benign
6	30916480	T	TTATA	T30916498A	VARS2	NM_020442.6(VARS2):c.671+232TA[10]	noncoding	Benign
6	30922875	CCTT	C	T30922883C	VARS2	NM_020442.6(VARS2):c.2107-22CTT[2]	noncoding	Benign
6	30923671	TG	T	G30923673C	VARS2	NM_020442.6(VARS2):c.2466+168del	noncoding	Benign
6	30925222	AC	A	C30925223T	VARS2	NM_020442.6(VARS2):c.2674-51del	noncoding	Benign
6	30925785	TG	T	G30925788C	VARS2	NM_020442.6(VARS2):c.2961+69del	noncoding	Benign
6	31116020	ACTT	A	C31116024A	CDSN	NM_001264.5(CDSN):c.1589AAG[1]:p.Ter530=	noncoding	Benign
6	31117165	GCTT	G	T31117167C	CDSN	NM_001264.5(CDSN):c.447_449del:p.Ser153del	coding	Benign
6	31668181	CTAT	C	A31668183C	CSNK2B	NM_001320.7(CSNK2B):c.175+213_175+215del	noncoding	Benign
6	31668186	CCAAA	C	C31668187A	CSNK2B	NM_001320.7(CSNK2B):c.175+217_175+220del	noncoding	Benign
6	31668630	T	TA	C31668632A	CSNK2B	NM_001320.7(CSNK2B):c.268dup:p.Thr90fs	coding	Pathogenic
6	31669422	CT	C	T31669423A	CSNK2B	NM_001320.7(CSNK2B):c.472del:p.Tyr158fs	coding	Pathogenic
6	31669443	TCA	T	C31669446T	CSNK2B	NM_001320.7(CSNK2B):c.495_496del:p.Met166fs	coding	Pathogenic
6	31723412	TG	T	G31723413C	MPIG6B	NM_138272.3(MPIG6B):c.30del:p.Leu11fs	coding	Pathogenic
6	31723724	C	CT	C31723727T	MPIG6B	NM_138272.3(MPIG6B):c.149dup:p.Ala52fs	coding	Pathogenic
6	31740537	T	TC	A31740542C	MSH5	NM_172166.4(MSH5):c.75dup:p.Ser26fs	coding	Pathogenic
6	31760733	CA	C	A31760734G	MSH5	NM_172166.4(MSH5):c.1857del:p.Ala620fs	coding	Pathogenic
6	31859758	GC	G	C31859759T	NEU1	NM_000434.4(NEU1):c.1208del:p.Ser403fs	coding	Pathogenic
6	31860509	CCGT	C	C31860510A	NEU1	NM_000434.4(NEU1):c.725_727del:p.Tyr242_Gly243delinsTer	coding	Pathogenic
6	31864579	CA	C	A31864594T	SLC44A4	NM_025257.3(SLC44A4):c.2011+72del	noncoding	Benign
6	31864579	C	CA	T31864595A	SLC44A4	NM_025257.3(SLC44A4):c.2011+58dup	noncoding	Benign
6	31865295	C	CG	A31865304G	SLC44A4	NM_025257.3(SLC44A4):c.1760+19dup	noncoding	Benign
6	31927787	TC	T	C31927789T	C2	NM_000063.6(C2):c.37del:p.Leu13fs	coding	Pathogenic
6	31943332	AG	A	G31943336C	C2	NM_000063.6(C2):c.1455+17del	noncoding	Benign
6	31943545	CCAGCCTCCTGATCCTGAAGCCA	C	C31943549A	C2	NM_000063.6(C2):c.1567+22_1567+43del	noncoding	Benign
6	31944115	TC	T	C31944119T	C2	NM_000063.6(C2):c.1811-16del	noncoding	Benign
6	31949780	C	CAT	G31949781A	CFB	NM_001710.6(CFB):c.1408+223_1408+224insAT	noncoding	Benign
6	31961349	TG	T	G31961351C	SKIV2L	NM_006929.5(SKIV2L):c.754del:p.Ala252fs	coding	Pathogenic
6	31962558	GCCTCATCATGA	G	T31962561A	SKIV2L	NM_006929.5(SKIV2L):c.1187_1197del:p.Leu396fs	coding	Pathogenic
6	31963457	GC	G	C31963461G	SKIC2	NM_006929.5(SKIC2):c.1452del:p.Val485fs	coding	Pathogenic
6	31963664	GGA	G	G31963669A	SKIV2L	NM_006929.5(SKIV2L):c.1583_1584del:p.Arg528fs	coding	Pathogenic
6	31963694	TG	T	G31963698C	SKIV2L	NM_006929.5(SKIV2L):c.1612del:p.Ala538fs	coding	Pathogenic
6	31965801	AC	A	C31965803T	SKIV2L	NM_006929.5(SKIV2L):c.1992del:p.Phe665fs	coding	Pathogenic
6	31965842	G	GTT	G31965846T	SKIV2L	NM_006929.5(SKIV2L):c.2033_2034dup:p.Asp679fs	coding	Pathogenic
6	31996844	G	GCT	A31996848T	C4A	NM_007293.3(C4A):c.3694_3695dup:p.Val1233fs	coding	Pathogenic
6	32039130	TG	T	G32039133A	CYP21A2	NM_000500.9(CYP21A2):c.332del:p.Gly111fs	coding	Pathogenic
6	32039231	AC	A	C32039234A	CYP21A2	NM_000500.9(CYP21A2):c.433del:p.Gln145fs	coding	Pathogenic
6	32039418	C	CA	G32039420A	CYP21A2	NM_000500.9(CYP21A2):c.511dup:p.Ser171fs	coding	Pathogenic
6	32040098	C	CT	G32040100T	CYP21A2	NM_000500.9(CYP21A2):c.833dup:p.Glu279fs	coding	Pathogenic
6	32040182	GT	G	T32040189G	CYP21A2	NM_000500.9(CYP21A2):c.923del:p.Leu308fs	coding	Pathogenic
6	32040188	T	TTG	C32040191T	CYP21A2	NM_000500.9(CYP21A2):c.923_924dup:p.Leu309fs	coding	Pathogenic
6	32049768	T	TG	A32049774G	TNXB	NM_001365276.2(TNXB):c.9440-186dup	noncoding	Benign
6	32052450	C	CA	G32052465A	TNXB	NM_001365276.2(TNXB):c.9115+206dup	noncoding	Benign
6	32053661	CAG	C	A32053662G	TNXB	NM_001365276.2(TNXB):c.8516_8517del:p.Pro2839fs	coding	Pathogenic
6	32055906	CA	C	A32055907G	TNXB	NM_001365276.2(TNXB):c.8411del:p.Leu2804fs	coding	Pathogenic
6	32058435	CA	C	A32058437C	TNXB	NM_001365276.2(TNXB):c.7493-46del	noncoding	Benign
6	32061449	A	GT	A32061449G	TNXB	NM_001365276.2(TNXB):c.7440delinsAC:p.Tyr2480Ter	coding	Pathogenic
6	32067381	AAG	A	A32067384T	TNXB	NM_001365276.2(TNXB):c.6544+278_6544+279del	noncoding	Benign
6	32067911	C	CA	G32067913A	TNXB	NM_001365276.2(TNXB):c.6293dup:p.Glu2100fs	coding	Pathogenic/Likely_pathogenic
6	32069777	GT	G	T32069778C	TNXB	NM_001365276.2(TNXB):c.5362del:p.Thr1788fs	coding	Pathogenic
6	32070498	GC	G	C32070501A	TNXB	NM_001365276.2(TNXB):c.4991-85del	noncoding	Benign
6	32072200	CCA	C	C32072203G	TNXB	NM_001365276.2(TNXB):c.4778_4779del:p.Val1593fs	coding	Pathogenic
6	32081467	T	TA	C32081470A	TNXB	NM_001365276.2(TNXB):c.3942dup:p.Thr1315fs	coding	Pathogenic/Likely_pathogenic
6	32084312	CTCCAGGAAGCCT	C	A32084316C	TNXB	NM_001365276.2(TNXB):c.3445+89_3445+100del	noncoding	Benign
6	32084569	TG	T	G32084570T	TNXB	NM_001365276.2(TNXB):c.3288del:p.Gln1095_Tyr1096insTer	coding	Pathogenic/Likely_pathogenic
6	32085968	AG	A	G32085970C	TNXB	NM_001365276.2(TNXB):c.2929del:p.Leu977fs	coding	Pathogenic
6	32088573	GTAA	G	T32088577C	TNXB	NM_001365276.2(TNXB):c.2779+209_2779+211del	noncoding	Benign
6	32089062	AGAG	A	G32089068C	TNXB	NM_001365276.2(TNXB):c.2516-17_2516-15del	noncoding	Benign
6	32095325	CAG	C	A32095328G	TNXB	NM_001365276.2(TNXB):c.2243-136_2243-135del	noncoding	Benign
6	32098456	TTTTTGTTTTG	T	T32098480G	TNXB	NM_001365276.2(TNXB):c.-8-280CAAAA[4]	noncoding	Benign
6	32196888	CT	C	T32196890C	NOTCH4	NM_004557.4(NOTCH4):c.5200+36del	noncoding	Benign
6	32198383	CT	C	T32198396C	NOTCH4	NM_004557.4(NOTCH4):c.4756+37del	noncoding	Benign
6	32202687	AG	A	G32202688A	NOTCH4	NM_004557.4(NOTCH4):c.3232-89del	noncoding	Benign
6	32218145	CAG	C	A32218146G	NOTCH4	NM_004557.4(NOTCH4):c.1511-39_1511-38del	noncoding	Benign
6	32220059	G	GCC	T32220063C	NOTCH4	NM_004557.4(NOTCH4):c.1315+67_1315+68dup	noncoding	Benign
6	32223881	T	TAGCAGC	T32223914C	NOTCH4	NM_004557.4(NOTCH4):c.18GCT[12]:p.Leu15_Leu16dup	coding	Benign
6	32223881	T	TAGC	T32223914C	NOTCH4	NM_004557.4(NOTCH4):c.18GCT[11]:p.Leu16dup	coding	Benign
6	32403192	TG	T	G32403194A	BTNL2	NM_001304561.2(BTNL2):c.451del:p.His151fs	coding	Benign
6	32584361	G	GA	C32584362A	HLA-DRB1	NM_002124.4(HLA-DRB1):c.117_118insT:p.Pro40fs	coding	Benign
6	32829039	AG	A	G32829043T	TAP2	NM_001290043.2(TAP2):c.1933-6del	noncoding	Benign
6	32832344	TC	T	C32832348A	TAP2	NM_001290043.2(TAP2):c.1260del:p.Ser421fs	coding	Pathogenic
6	32832473	GAAGA	G	A32832478G	TAP2	NM_001290043.2(TAP2):c.1144-16_1144-13del	noncoding	Benign
6	32832790	CT	C	T32832791G	TAP2	NM_001290043.2(TAP2):c.979del:p.Arg327fs	coding	Pathogenic
6	32835274	CA	C	A32835275G	TAP2	NM_001290043.2(TAP2):c.824del:p.Leu275fs	coding	Pathogenic
6	32837860	TG	T	G32837863C	TAP2	NM_001290043.2(TAP2):c.373del:p.Gln125fs	coding	Pathogenic
6	32844876	TTG	T	T32844879A	PSMB8	Single_allele	noncoding	Benign
6	32847536	CCAGAGATGAAACTA	C	C32847537T	TAP1	NM_000593.6(TAP1):c.1866_1879del:p.His622fs	coding	Pathogenic
6	32850988	GC	G	C32850989A	TAP1	NM_000593.6(TAP1):c.1005del:p.Pro336fs	coding	Pathogenic
6	32974446	G	GT	C32974449T	BRD2	NM_005104.4(BRD2):c.30-14dup	noncoding	Benign
6	33165834	TG	T	G33165836A	COL11A2	NM_080680.3(COL11A2):c.4483-19del	noncoding	Benign
6	33166792	C	CG	C33166798G	COL11A2	NM_080680.3(COL11A2):c.4265dup:p.Gly1423_Glu1424insTer	coding	Pathogenic
6	33168898	A	AC	A33168906C	COL11A2	NM_080680.3(COL11A2):c.3852+50dup	noncoding	Benign
6	33170362	TG	T	G33170368C	COL11A2	NM_080680.3(COL11A2):c.3545del:p.Pro1182fs	coding	Pathogenic
6	33170692	TC	T	C33170696T	COL11A2	NM_080680.3(COL11A2):c.3475-83del	noncoding	Benign
6	33172059	AG	A	G33172065C	COL11A2	NM_080680.3(COL11A2):c.3032del:p.Pro1011fs	coding	Pathogenic
6	33172366	GACCAGGGTC	G	A33172370C	COL11A2	NM_080680.3(COL11A2):c.2902_2910del:p.Asp968_Gly970del	coding	Pathogenic
6	33173749	TG	T	G33173755A	COL11A2	NM_080680.3(COL11A2):c.2584-5del	noncoding	Benign/Likely_benign
6	33173915	AC	A	C33173919G	COL11A2	NM_080680.3(COL11A2):c.2540del:p.Gly847fs	coding	Pathogenic
6	33177425	GT	G	T33177426G	COL11A2	NM_080680.3(COL11A2):c.1957del:p.Thr653fs	coding	Pathogenic
6	33178132	A	AG	T33178138G	COL11A2	NM_080680.3(COL11A2):c.1871dup:p.Gly625fs	coding	Pathogenic
6	33178677	A	AC	T33178681C	COL11A2	NM_080680.3(COL11A2):c.1719+1dup	noncoding	Pathogenic
6	33181369	GC	G	C33181376A	COL11A2	NM_080680.3(COL11A2):c.1120-200del	noncoding	Benign
6	33184296	G	GT	G33184298T	COL11A2	NM_080680.3(COL11A2):c.967dup:p.Thr323fs	coding	Pathogenic
6	33423506	CA	C	A33423508T	SYNGAP1	NM_006772.3(SYNGAP1):c.99del:p.Gln33fs	coding	Pathogenic
6	33425781	AC	A	C33425786A	SYNGAP1	NM_006772.3(SYNGAP1):c.190-12del	noncoding	Benign
6	33425789	C	CCCCA	T33425790C	SYNGAP1	NM_006772.3(SYNGAP1):c.190-9_190-8insCCCA	noncoding	Pathogenic
6	33432230	CT	C	T33432231G	SYNGAP1	NM_006772.3(SYNGAP1):c.366del:p.Ala123fs	coding	Pathogenic
6	33432729	G	GAAGTCACAACCCAA	C33432745A	SYNGAP1	NM_006772.3(SYNGAP1):c.434_447dup:p.Leu150fs	coding	Pathogenic
6	33435075	C	CAA	G33435100A	SYNGAP1	NM_006772.3(SYNGAP1):c.510-54_510-53dup	noncoding	Benign
6	33435075	C	CA	G33435100A	SYNGAP1	NM_006772.3(SYNGAP1):c.510-53dup	noncoding	Benign
6	33435101	GA	G	A33435103G	SYNGAP1	NM_006772.3(SYNGAP1):c.510-49del	noncoding	Benign
6	33435294	TTC	T	C33435296G	SYNGAP1	NM_006772.3(SYNGAP1):c.654_655del:p.Phe218fs	coding	Pathogenic
6	33437727	G	GC	A33437734C	SYNGAP1	NM_006772.3(SYNGAP1):c.828dup:p.Lys277fs	coding	Pathogenic
6	33437786	CCA	C	A33437788C	SYNGAP1	NM_006772.3(SYNGAP1):c.883_884del:p.Thr295fs	coding	Pathogenic
6	33437840	T	TC	G33437842C	SYNGAP1	NM_006772.3(SYNGAP1):c.936dup:p.Glu313fs	coding	Pathogenic
6	33437926	GGC	G	G33437927T	SYNGAP1	NM_006772.3(SYNGAP1):c.1022_1023del:p.Gly341fs	coding	Pathogenic
6	33438207	C	CTT	G33438210T	SYNGAP1;SYNGAP1-AS1	NM_006772.3(SYNGAP1):c.1303_1304dup:p.Leu435fs	coding	Pathogenic
6	33438805	AG	A	G33438807A	SYNGAP1	NM_006772.3(SYNGAP1):c.1564del:p.Glu522fs	coding	Pathogenic
6	33438844	CCA	C	C33438845G	SYNGAP1	NM_006772.3(SYNGAP1):c.1602_1603del:p.Ser535fs	coding	Pathogenic
6	33439119	G	GA	G33439133A	SYNGAP1	NM_006772.3(SYNGAP1):c.1676+213dup	noncoding	Benign
6	33440720	TC	T	C33440726A	SYNGAP1	NM_006772.3(SYNGAP1):c.1677-3del	noncoding	Benign
6	33440811	AG	A	G33440813C	SYNGAP1	NM_006772.3(SYNGAP1):c.1761del:p.Arg587fs	coding	Pathogenic
6	33440952	GC	G	C33440954A	SYNGAP1	NM_006772.3(SYNGAP1):c.1902del:p.Asn635fs	coding	Pathogenic
6	33440986	GGGCAGGGCAGGGAGT	G	A33441010T	SYNGAP1	NM_006772.3(SYNGAP1):c.1913+45_1913+59del	noncoding	Benign
6	33441093	GTGTGTGTGTA	G	A33441113G	SYNGAP1	NM_006772.3(SYNGAP1):c.1914-60_1914-51del	noncoding	Benign
6	33441113	A	ATG	A33441141G	SYNGAP1	NM_006772.3(SYNGAP1):c.1914-59TG[14]	noncoding	Benign
6	33441113	ATGTG	A	G33441137A	SYNGAP1	NM_006772.3(SYNGAP1):c.1914-59TG[11]	noncoding	Benign
6	33441697	GC	G	C33441699T	SYNGAP1	NM_006772.3(SYNGAP1):c.2234del:p.Pro745fs	coding	Pathogenic
6	33442906	G	GCCTCC	A33442919T	SYNGAP1	NM_006772.3(SYNGAP1):c.2362_2366dup:p.Thr790fs	coding	Pathogenic/Likely_pathogenic
6	33442934	A	AC	A33442940C	SYNGAP1	NM_006772.3(SYNGAP1):c.2387dup:p.Pro797fs	coding	Pathogenic
6	33443066	C	CA	G33443069A	SYNGAP1	NM_006772.3(SYNGAP1):c.2516dup:p.Ser840fs	coding	Pathogenic
6	33443089	T	TA	C33443091A	SYNGAP1	NM_006772.3(SYNGAP1):c.2538dup:p.Gln847fs	coding	Pathogenic
6	33443268	CT	C	T33443269C	SYNGAP1	NM_006772.3(SYNGAP1):c.2717del:p.Leu906fs	coding	Pathogenic
6	33443629	AC	A	C33443630A	SYNGAP1	NM_006772.3(SYNGAP1):c.3078del:p.Asp1026fs	coding	Pathogenic
6	33443684	AG	A	G33443685C	SYNGAP1	NM_006772.3(SYNGAP1):c.3133del:p.Ala1045fs	coding	Pathogenic
6	33443685	GC	G	C33443690T	SYNGAP1	NM_006772.3(SYNGAP1):c.3138del:p.Ser1047fs	coding	Pathogenic
6	33443692	CAG	C	A33443693G	SYNGAP1	NM_006772.3(SYNGAP1):c.3141_3142del:p.Gly1048fs	coding	Pathogenic
6	33443726	T	TG	T33443732G	SYNGAP1	NM_006772.3(SYNGAP1):c.3179dup:p.Gly1061fs	coding	Pathogenic
6	33443783	AGTCAGCGCAGCCCAGAAACCCCG	A	T33443785C	SYNGAP1	NM_006772.3(SYNGAP1):c.3233_3255del:p.Val1078fs	coding	Pathogenic
6	33443819	G	GA	T33443822A	SYNGAP1	NM_006772.3(SYNGAP1):c.3269dup:p.Asn1090fs	coding	Pathogenic
6	33443851	GC	G	C33443855G	SYNGAP1	NM_006772.3(SYNGAP1):c.3303del:p.Ala1102fs	coding	Pathogenic
6	33444484	CCT	C	C33444487G	SYNGAP1	NM_006772.3(SYNGAP1):c.3452_3453del:p.Ala1150_Ser1151insTer	coding	Pathogenic
6	33444550	A	AC	A33444552C	SYNGAP1	NM_006772.3(SYNGAP1):c.3516dup:p.Ile1173fs	coding	Pathogenic
6	33446623	AT	A	T33446624G	SYNGAP1	NM_006772.3(SYNGAP1):c.3632del:p.Met1211fs	coding	Pathogenic
6	33447878	A	AC	G33447883C	SYNGAP1	NM_006772.3(SYNGAP1):c.3834dup:p.Ala1279fs	coding	Pathogenic
6	33655890	A	ATG	C33655903T	ITPR3	NM_002224.4(ITPR3):c.282+4TG[7]	noncoding	Benign
6	33657823	GT	G	T33657824G	ITPR3	NM_002224.4(ITPR3):c.283-108del	noncoding	Benign
6	33663378	TGGGAGG	T	G33663380T	ITPR3	NM_002224.4(ITPR3):c.955-120_955-115del	noncoding	Benign
6	33667339	CA	C	A33667340G	ITPR3	NM_002224.4(ITPR3):c.1713+50del	noncoding	Benign
6	33673412	G	GT	C33673417T	ITPR3	NM_002224.4(ITPR3):c.2929-175dup	noncoding	Benign
6	33683073	TG	T	G33683081T	ITPR3	NM_002224.4(ITPR3):c.4598-126del	noncoding	Benign
6	33687592	G	GGGGT	G33687600T	ITPR3	NM_002224.4(ITPR3):c.6264+32_6264+35dup	noncoding	Benign
6	33772927	AGAG	A	G33772931A	LEMD2	NM_181336.4(LEMD2):c.1362-152_1362-150del	noncoding	Benign
6	33781160	G	GA	C33781169A	LEMD2	NM_181336.4(LEMD2):c.854-15dup	noncoding	Benign
6	34242693	A	AC	T34242699C	HMGA1	NM_145899.3(HMGA1):c.136-14dup	noncoding	Benign
6	34418142	G	GT	A34418144T	RPS10	NM_001014.5(RPS10):c.456+226dup	noncoding	Benign
6	34422019	GA	G	A34422033G	RPS10	NM_001014.5(RPS10):c.323-213del	noncoding	Benign
6	34424715	GGCAGGCAC	G	G34424716A	RPS10	NM_001014.5(RPS10):c.268_275del:p.Val90fs	coding	Pathogenic
6	35238017	AGGTAAGGACTTTGAGAGGACAGAAGCAGAGTGACCTTTGGTAAGGGGCTGAGGTTGGGACCAGAGATAGGGTGCCTATTAGGGGATGACACCTCCTCAACCTCCTTCTTATGAAGAACCCAGGACATAGCTAAGGGTTGTCTCCTATCTGCCTGTTTCATCTCAGTTCAAGGGACAGAGAAGTCCAGCCAGTTCCTTAGTGCCCCCTTCCCCTACCCCACCTTGTTTCCCTACTCTCATTCCTATCCCCCATGGGTCCCTAACCCTCTTAGTTAATGGACATGCGATTCACATTTGCTCCTGGGTCTGGAAGGATATTTGAGCCCTGACTGTGTGTGTGCATGAGGTCACAGGTGTGTTCCATAACCTTCTTACCCCACATTCCTCAGACCTTCCCAGTGGGCTCTGGGGAAATGATGTCTACCCCTCGAAAGGCTGTACTGGTCAAAGGGAGAGTAGGATACTAGTTAGGAGGACTGAAGCTGGGTTCAGATCCCAGCCCTGTCTCCTACTAGCTCTGTGATCCTGGACAAGTCACTTAATGTCTCTGTGCCTCAGTTTTCCATAGTGCTCGCCTCATACTGTGTTGTGATTAAAAGAGTGATTACATAAAAAGTACTTAGAACAGTGCTTGGCAAATGGAAACACTTTGTGTTAACTGTTATTACAGTATAGTTACCCACATTATGCATTCTGTTTCCCTTCCTTTTAATTAGCCAGGTCTGAGGGAGAATGGGGGGAAAGGGTGGAGGAAAAAGGCAGGGTAGCCATACTGAAAATGATGATTCATTAGGTCCATATCCCCTGGTCACAAGGAGTGGGGACGAGGAGGACTGGGCTCGTTCTTTGTGTCTTTTGGCCCAACAGCTGCGAGAGGAGGGGGGAGGCTAGGGCAGCAGGTCAGCCAGCCAGAGTTGAGAGGTTTCCTGCTGGGAAGAACTGTTGACAGGTATGCTAAGAGTGAAGTGAAAGGCTGCCCTCCCTGCCCCTTCCCCCAACCAGGGGTGAGTAGCCTGGGTCCTGTCTGCCACCAGCTTGGGGAACTTGACCTCAGGAAGGAAGCCATTCACCAGCCCCCCTTTCCCTTACTAGTGCTGAAAGCTGCCTCAGGCCTGAGTCTCTCCAGATCTCTCCCAGTCCAGCCCCTTGCCTGGCCCCCAGCCCTCCCCCATCAGCTACCCAGCCTCACTGGCTCTCCTGGAGGTCCTCCCTGCCTGGCCTCTTTCCCAGCTCCTCCTCCTCCCTAAAGGGCTGCCCGTTTTCAGTGAGTCCCTTTAGACCCTCCACCTCTCCTTGCCCCGCACCCCCCCAACCCCCCGTCCTGAGGGACAGGAAAGAGATAACCCTTACCCACCAACCTTTCAGGGAATGGCCATCAGCTGGAGACTAAGGGCTAGCCTGTTAGGTCAAATGCCCACCTGCCCCTCCTCTAGGTAATTCCCTGAGGGCCTGTTCCTAGTTTTGGTTCCAATTTGTCCCCTTATAAGAACACTCAATCCCAGAAGAGAGGGTGTTACTAATGGCCACAGATCCCCTGAACAGGGAAGAAACAGAGACAGGAAAGAGAGAGAGAGACAGGAAAGAGAAAGAGAAAGAGACAGAGAGAGATCAAGAAGAGGCAGGCCCAGGACTCCTTGATTTTTGCATGTCTCTGTCAGTGAGGGAGGGATCTTTCTCCTTGTTTGTTCTCAGCCTTTGATAGTATCTTTTATCCTGTTTTGTCCTCCTTCTTCAGATATAGATGAGTGCCGCTTAAACAACGGGGGCTGTGACCATATTTGCCGCAACACAGTGGGCAGCTTCGAATGCAGTTGCAAGAAAGGCTATAAGCTTCTCATCAATGAGAGGAACTGCCAG	A	A35238021G	SCUBE3	NM_152753.4(SCUBE3):c.829+3_952+2del	coding	Pathogenic
6	35319510	T	TC	T35319517C	DEF6	NM_022047.4(DEF6):c.1216-8dup	noncoding	Benign
6	35455829	GA	G	A35455832G	FANCE	NM_021922.3(FANCE):c.334del:p.Ser112fs	coding	Pathogenic
6	35456016	T	TG	C35456023G	FANCE	NM_021922.3(FANCE):c.524dup:p.Arg176fs	coding	Pathogenic
6	35458421	GA	G	A35458423G	FANCE	NM_021922.3(FANCE):c.1096del:p.Ser366fs	coding	Pathogenic
6	35459355	TCCCG	T	C35459358T	FANCE	NM_021922.3(FANCE):c.1141_1144del:p.Arg381fs	coding	Pathogenic
6	35459682	G	GT	C35459684T	FANCE	NM_021922.3(FANCE):c.1239dup:p.Pro414fs	coding	Pathogenic
6	35460634	T	TG	A35460639G	FANCE	NM_021922.3(FANCE):c.1383+20dup	noncoding	Benign
6	35498368	T	TGGCGAA	C35498378G	TULP1	NM_003322.6(TULP1):c.1582_1587dup:p.Ala529_Ile530insPheAla	coding	Pathogenic
6	35503626	CG	C	G35503631C	TULP1	NM_003322.6(TULP1):c.1255del:p.Arg419fs	coding	Pathogenic
6	35506100	T	TG	C35506107G	TULP1	NM_003322.6(TULP1):c.901dup:p.Gln301fs	coding	Pathogenic
6	35506275	GCTTT	G	T35506278G	TULP1	NC_000006.11:g.35474055_35474058del	coding	Pathogenic
6	35509304	TG	T	G35509307A	TULP1	NM_003322.6(TULP1):c.726del:p.Gly244fs	coding	Pathogenic
6	35511689	C	CG	T35511695G	TULP1	NM_003322.6(TULP1):c.307dup:p.Arg103fs	coding	Pathogenic
6	35511745	CGGCGCCCGGGCCT	C	C35511748G	TULP1	NM_003322.6(TULP1):c.239_251del:p.Gln80fs	coding	Pathogenic
6	35512207	T	TG	C35512212G	TULP1	NM_003322.6(TULP1):c.162dup:p.Thr55fs	coding	Pathogenic/Likely_pathogenic
6	35805372	AAG	A	A35805375G	LHFPL5	NM_182548.4(LHFPL5):c.-298AG[1]	noncoding	Benign/Likely_benign
6	35814593	T	TCAAGTGAGGTG	G35814606A	LHFPL5	NM_182548.4(LHFPL5):c.462_472dup:p.Arg158fs	coding	Pathogenic
6	35819682	C	CT	G35819695T	LHFPL5	NM_182548.4(LHFPL5):c.*16+231dup	noncoding	Benign
6	35819682	CT	C	T35819694G	LHFPL5	NM_182548.4(LHFPL5):c.*16+231del	noncoding	Benign
6	35959780	GA	G	A35959781T	SLC26A8	NM_052961.4(SLC26A8):c.1664del:p.Ile555fs	coding	Pathogenic
6	35977442	C	CT	A35977459T	SLC26A8	NM_052961.4(SLC26A8):c.1026-107dup	noncoding	Benign
6	36302770	AC	A	C36302772A	PNPLA1	NM_001374623.1(PNPLA1):c.1384+303del	noncoding	Benign
6	38722576	G	GT	G38722577T	DNAH8	NM_001206927.2(DNAH8):c.-34-200_-34-199insT	noncoding	Benign
6	38722577	G	GTGT	G38722578T	DNAH8	NM_001206927.2(DNAH8):c.-34-199_-34-198insTGT	noncoding	Benign
6	38722577	G	GTGTGT	G38722578T	DNAH8	NM_001206927.2(DNAH8):c.-34-199_-34-198insTGTGT	noncoding	Benign
6	38723552	GCAA	G	C38723565A	DNAH8	NM_001206927.2(DNAH8):c.525+82CAA[4]	noncoding	Benign
6	38734692	CT	C	T38734695A	DNAH8	NM_001206927.2(DNAH8):c.762+70del	noncoding	Benign
6	38761441	G	GT	A38761451T	DNAH8	NM_001206927.2(DNAH8):c.1516-252dup	noncoding	Benign
6	38770174	TG	T	G38770175A	DNAH8	NM_001206927.2(DNAH8):c.1618-238del	noncoding	Benign
6	38770289	T	TA	C38770299A	DNAH8	NM_001206927.2(DNAH8):c.1618-115dup	noncoding	Benign
6	38776217	C	CT	G38776234T	DNAH8	NM_001206927.2(DNAH8):c.1962+282dup	noncoding	Benign
6	38776217	CT	C	T38776233G	DNAH8	NM_001206927.2(DNAH8):c.1962+282del	noncoding	Benign
6	38780009	CA	C	A38780010C	DNAH8	NM_001206927.2(DNAH8):c.2084del:p.His695fs	coding	Pathogenic
6	38781424	ACAAATATATCATAT	A	A38781426C	DNAH8	NM_001206927.2(DNAH8):c.2259+53_2259+66del	noncoding	Benign
6	38787011	GTA	G	A38787027C	DNAH8	NM_001206927.2(DNAH8):c.2583+60TA[7]	noncoding	Benign
6	38790015	G	GT	C38790028T	DNAH8	NM_001206927.2(DNAH8):c.2664+144dup	noncoding	Benign
6	38790015	GT	G	T38790027C	DNAH8	NM_001206927.2(DNAH8):c.2664+144del	noncoding	Benign
6	38790307	CA	C	A38790309G	DNAH8	NM_001206927.2(DNAH8):c.2685del:p.Gly896fs	coding	Pathogenic
6	38791637	G	GAAAC	T38791638A	DNAH8	NM_001206927.2(DNAH8):c.2864_2865insAAAC:p.Ala956fs	coding	Pathogenic
6	38791779	C	CT	G38791791T	DNAH8	NM_001206927.2(DNAH8):c.2901+116dup	noncoding	Benign
6	38803599	ATT	A	T38803613C	DNAH8	NM_001206927.2(DNAH8):c.3034+302_3034+303del	noncoding	Benign
6	38803599	ATTT	A	T38803612C	DNAH8	NM_001206927.2(DNAH8):c.3034+301_3034+303del	noncoding	Benign
6	38807791	AT	A	T38807793A	DNAH8	NM_001206927.2(DNAH8):c.3257+77del	noncoding	Benign
6	38815386	CAG	C	A38815387T	DNAH8	NM_001206927.2(DNAH8):c.3334-81_3334-80del	noncoding	Benign
6	38826407	A	AT	C38826417T	DNAH8	NM_001206927.2(DNAH8):c.4083+25dup	noncoding	Benign
6	38826407	AT	A	T38826416C	DNAH8	NM_001206927.2(DNAH8):c.4083+25del	noncoding	Benign
6	38845866	T	TA	G38845867A	DNAH8	NM_001206927.2(DNAH8):c.5045+93_5045+94insA	noncoding	Benign
6	38850108	G	GA	T38850117A	DNAH8	NM_001206927.2(DNAH8):c.5200-135dup	noncoding	Benign
6	38857752	CT	C	T38857761A	DNAH8	NM_001206927.2(DNAH8):c.5958+19del	noncoding	Benign
6	38860648	G	GT	A38860655T	DNAH8	NM_001206927.2(DNAH8):c.6131+25dup	noncoding	Benign
6	38864245	TA	T	A38864253T	DNAH8	NM_001206927.2(DNAH8):c.6498+193del	noncoding	Benign
6	38872628	G	GCAAA	G38872635A	DNAH8	NM_001206927.2(DNAH8):c.7086_7089dup:p.Glu2364fs	coding	Pathogenic
6	38873149	T	TG	C38873154G	DNAH8	NM_001206927.2(DNAH8):c.7479+6dup	noncoding	Benign
6	38873391	TG	T	G38873392T	DNAH8	NM_001206927.2(DNAH8):c.7620+16del	noncoding	Benign
6	38906355	TAAAAGATG	T	A38906357G	DNAH8	NM_001206927.2(DNAH8):c.9298_9305del:p.Lys3100fs	coding	Pathogenic
6	38921520	T	TA	T38921527A	DNAH8	NM_001206927.2(DNAH8):c.10662+20dup	noncoding	Benign
6	38926179	T	TCTTTTTCC	T38926180C	DNAH8	NM_001206927.2(DNAH8):c.11087_11088insCTTTTTCC:p.Lys3697fs	coding	Pathogenic
6	38929677	TA	T	A38929692G	DNAH8	NM_001206927.2(DNAH8):c.11274+26del	noncoding	Benign
6	38932216	A	ACACACACACACC	C38932218A	DNAH8	NM_001206927.2(DNAH8):c.11457+224_11457+225insACACACACACCC	noncoding	Benign
6	38936024	AT	A	T38936040G	DNAH8	NM_001206927.2(DNAH8):c.11563+343del	noncoding	Benign
6	38971472	A	AT	A38971488T	DNAH8	NM_001206927.2(DNAH8):c.12452-105dup	noncoding	Benign
6	38971472	A	ATTT	A38971488T	DNAH8	NM_001206927.2(DNAH8):c.12452-107_12452-105dup	noncoding	Benign
6	38971472	AT	A	T38971487A	DNAH8	NM_001206927.2(DNAH8):c.12452-105del	noncoding	Benign
6	38973659	A	AG	T38973663G	DNAH8	NC_000006.11:g.38941435_38941436insG	noncoding	Pathogenic
6	38982479	C	CT	C38982486T	DNAH8	NM_001206927.2(DNAH8):c.12951+23dup	noncoding	Benign
6	38984470	GCACA	G	C38984493A	DNAH8	NM_001206927.2(DNAH8):c.13053+164CA[11]	noncoding	Benign
6	38984470	GCA	G	C38984495A	DNAH8	NM_001206927.2(DNAH8):c.13053+164CA[12]	noncoding	Benign
6	38984470	G	GCA	A38984497C	DNAH8	NM_001206927.2(DNAH8):c.13053+164CA[14]	noncoding	Benign
6	39008626	TA	T	A39008627G	DNAH8	NM_001206927.2(DNAH8):c.13215-187del	noncoding	Benign
6	39008693	C	CT	G39008708T	DNAH8	NM_001206927.2(DNAH8):c.13215-107dup	noncoding	Benign
6	39008693	C	CTT	G39008708T	DNAH8	NM_001206927.2(DNAH8):c.13215-108_13215-107dup	noncoding	Benign
6	39008693	C	CTTT	G39008708T	DNAH8	NM_001206927.2(DNAH8):c.13215-109_13215-107dup	noncoding	Benign
6	39909934	CAG	C	A39909937T	MOCS1	NM_001358530.2(MOCS1):c.1001_1002del:p.Asn333_Ser334insTer	coding	Pathogenic
6	39913352	AG	A	G39913357A	MOCS1	NM_001358530.2(MOCS1):c.721del:p.Leu241fs	coding	Pathogenic
6	39925752	AC	A	C39925753A	MOCS1	NM_001358530.2(MOCS1):c.343del:p.Phe114_Val115insTer	coding	Pathogenic
6	39925804	TG	T	G39925809T	MOCS1	NM_001358530.2(MOCS1):c.291del:p.Ala99fs	coding	Pathogenic
6	39925824	TC	T	C39925826T	MOCS1	NM_001358530.2(MOCS1):c.271del:p.Glu91fs	coding	Pathogenic
6	39934369	TG	T	G39934371A	MOCS1	NM_001358530.2(MOCS1):c.48del:p.Ser17fs	coding	Pathogenic
6	41161340	GC	G	C41161341A	TREM2	NM_018965.4(TREM2):c.313del:p.Ala105fs	coding	Pathogenic
6	41161454	TG	T	G41161455C	TREM2	NM_018965.4(TREM2):c.199del:p.His67fs	coding	Pathogenic
6	42068544	GAC	G	C42068546G	TAF8	NM_138572.3(TAF8):c.719_720del:p.Thr240fs	coding	Pathogenic
6	42077124	AACAC	A	A42077125C	TAF8	NM_138572.3(TAF8):c.806_809del:p.Asn269fs	coding	Pathogenic
6	42178876	G	GAAC	T42178878A	GUCA1A	NM_001384910.1(GUCA1A):c.427_428insACA:p.Lys142_Ile143insAsn	coding	Pathogenic
6	42184950	A	AG	A42184956G	GUCA1B	NM_002098.6(GUCA1B):c.476-9dup	noncoding	Benign
6	42697810	TA	T	A42697826G	PRPH2	NM_000322.5(PRPH2):c.*484del	noncoding	Benign/Likely_benign
6	42698390	AG	A	G42698392T	PRPH2	NM_000322.5(PRPH2):c.945del:p.Trp316fs	coding	Pathogenic
6	42698413	AGCAGCCAGC	A	G42698414C	PRPH2	NM_000322.5(PRPH2):c.914_922del:p.Gly305_Leu308delinsVal	coding	Pathogenic
6	42698421	GC	G	C42698424T	PRPH2	NM_000322.5(PRPH2):c.914del:p.Gly305fs	coding	Pathogenic
6	42698423	C	CCT	G42698426C	PRPH2	NM_000322.5(PRPH2):c.911_912dup:p.Gly305fs	coding	Pathogenic
6	42698429	TCTCG	T	G42698433T	PRPH2	NM_000322.5(PRPH2):c.903_906del:p.Ser301fs	coding	Pathogenic/Likely_pathogenic
6	42698466	CAG	C	A42698467C	PRPH2	NM_000322.5(PRPH2):c.868_869del:p.Leu290fs	coding	Pathogenic
6	42698468	GCGACGTCT	G	C42698469G	PRPH2	NM_000322.5(PRPH2):c.860_867del:p.Gln287fs	coding	Pathogenic/Likely_pathogenic
6	42698507	CCTG	C	C42698508G	PRPH2	NM_000322.5(PRPH2):c.829-3_829-1del	coding	Pathogenic
6	42704079	AAC	A	C42704083G	PRPH2	NM_000322.5(PRPH2):c.828+284_828+285del	noncoding	Benign
6	42704104	TA	T	A42704114T	PRPH2	NM_000322.5(PRPH2):c.828+260del	noncoding	Benign
6	42704123	AT	A	T42704124A	PRPH2	NM_000322.5(PRPH2):c.828+241del	noncoding	Benign
6	42704165	GAATA	G	A42704186C	PRPH2	NM_000322.5(PRPH2):c.828+176TATT[5]	noncoding	Benign
6	42704165	G	GAATA	C42704190A	PRPH2	NM_000322.5(PRPH2):c.828+176TATT[7]	noncoding	Benign
6	42704355	CAGGGCCTACCTCGAAGAGCCAAATGAGG	C	G42704358C	PRPH2	NM_000322.5(PRPH2):c.810_828+9del	noncoding	Pathogenic
6	42704362	TACCTCGA	CCAAATGAGGAGCCCAAATG	T42704362C	PRPH2	NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG	noncoding	Pathogenic
6	42704367	CGA	C	G42704368A	PRPH2	NM_000322.5(PRPH2):c.824_825del:p.Leu274_Phe275insTer	coding	Pathogenic
6	42704374	CCAAATGAGGAG	C	A42704376G	PRPH2	NM_000322.5(PRPH2):c.808_818del:p.Leu270fs	coding	Pathogenic/Likely_pathogenic
6	42704381	AG	A	G42704383A	PRPH2	NM_000322.5(PRPH2):c.811del:p.Leu271fs	coding	Pathogenic/Likely_pathogenic
6	42704424	AGCTCAGCAGGGCAGCCCTGC	TCATG	A42704424T	PRPH2	NM_000322.5(PRPH2):c.749_769delinsCATGA:p.Cys250_Tyr257delinsSerTer	coding	Pathogenic
6	42704434	GGCAGCCCT	G	C42704441A	PRPH2	NM_000322.5(PRPH2):c.751_758del:p.Arg251fs	coding	Pathogenic
6	42704446	GC	G	C42704448A	PRPH2	NM_000322.5(PRPH2):c.746del:p.Gly249fs	coding	Pathogenic
6	42704451	G	GCACC	A42704459C	PRPH2	NM_000322.5(PRPH2):c.738_741dup:p.Arg248fs	coding	Pathogenic
6	42704492	T	TA	G42704494A	PRPH2	NM_000322.5(PRPH2):c.700dup:p.Tyr234fs	coding	Pathogenic
6	42704534	CG	C	G42704535T	PRPH2	NM_000322.5(PRPH2):c.658del:p.Arg220fs	coding	Pathogenic
6	42704534	CGTGGCGAGCTAGGATTGCAGCAGCTG	C	G42704535A	PRPH2	NM_000322.5(PRPH2):c.633_658del:p.Phe211fs	coding	Pathogenic
6	42704537	GGC	G	C42704539A	PRPH2	NM_000322.5(PRPH2):c.654_655del:p.Pro219fs	coding	Pathogenic
6	42704561	A	AT	A42704562T	PRPH2	NM_000322.5(PRPH2):c.631_632insA:p.Phe211fs	coding	Pathogenic
6	42704565	GGACGCCGTCCAC	G	G42704566C	PRPH2	NM_000322.5(PRPH2):c.616_627del:p.Val206_Val209del	coding	Pathogenic
6	42704566	GA	G	A42704567C	PRPH2	NM_000322.5(PRPH2):c.626del:p.Val209fs	coding	Pathogenic
6	42704569	GCCGTCCACCAGGTA	G	T42704573C	PRPH2	NM_000322.5(PRPH2):c.610_623del:p.Tyr204fs	coding	Pathogenic
6	42704569	G	GC	G42704572C	PRPH2	NM_000322.5(PRPH2):c.623dup:p.Val209fs	coding	Pathogenic
6	42704572	GTCCACCAGGTACCGCCCA	G	C42704578G	PRPH2	NM_000322.5(PRPH2):c.603_620del:p.Arg203_Gly208del	coding	Pathogenic
6	42721789	A	AT	G42721792T	PRPH2	NM_000322.5(PRPH2):c.545dup:p.Asn182fs	coding	Pathogenic
6	42721816	GT	G	T42721817C	PRPH2	NM_000322.5(PRPH2):c.518del:p.Asp173fs	coding	Pathogenic
6	42721821	G	GA	C42721826A	PRPH2	NM_000322.5(PRPH2):c.513dup:p.Arg172fs	coding	Pathogenic
6	42721825	AC	A	C42721827G	PRPH2	NM_000322.5(PRPH2):c.509del:p.Gly170fs	coding	Pathogenic
6	42721867	G	GATGGT	C42721873A	PRPH2	NM_000322.5(PRPH2):c.463_467dup:p.Asp157fs	coding	Pathogenic
6	42721894	A	AG	T42721899G	PRPH2	NM_000322.5(PRPH2):c.440dup:p.Gly148fs	coding	Pathogenic
6	42721900	GTC	G	C42721902G	PRPH2	NM_000322.5(PRPH2):c.433_434del:p.Asp145fs	coding	Pathogenic
6	42721949	G	GTGTT	C42721954T	PRPH2	NM_000322.5(PRPH2):c.382_385dup:p.Thr129fs	coding	Pathogenic
6	42721963	GC	G	C42721967G	PRPH2	NM_000322.5(PRPH2):c.371del:p.Gly124fs	coding	Pathogenic
6	42722032	GT	G	T42722033A	PRPH2	NM_000322.5(PRPH2):c.302del:p.Tyr101fs	coding	Pathogenic
6	42722048	G	GGCTTC	C42722054G	PRPH2	NM_000322.5(PRPH2):c.282_286dup:p.Pro96fs	coding	Pathogenic
6	42722058	T	TG	C42722061G	PRPH2	NM_000322.5(PRPH2):c.276dup:p.Arg93fs	coding	Pathogenic/Likely_pathogenic
6	42722064	ACT	A	C42722065T	PRPH2	NM_000322.5(PRPH2):c.269_270del:p.Lys90fs	coding	Pathogenic
6	42722067	TGGC	GGCCCT	T42722067G	PRPH2	NM_000322.5(PRPH2):c.265_268delinsAGGGCC:p.Ala89fs	coding	Pathogenic
6	42722102	G	GA	C42722103A	PRPH2	NM_000322.5(PRPH2):c.232_233insT:p.Ala78fs	coding	Pathogenic
6	42722106	GC	G	C42722107G	PRPH2	NM_000322.5(PRPH2):c.228del:p.Leu77fs	coding	Pathogenic
6	42722112	TGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTC	T	G42722113T	PRPH2	NM_000322.5(PRPH2):c.141_222del:p.Arg48fs	coding	Pathogenic
6	42722117	A	ACACAGGATAG	C42722131A	PRPH2	NM_000322.5(PRPH2):c.208_217dup:p.Val73fs	coding	Pathogenic
6	42722125	T	TA	G42722127A	PRPH2	NM_000322.5(PRPH2):c.209dup:p.Ser71fs	coding	Pathogenic
6	42722129	A	AC	A42722135C	PRPH2	NM_000322.5(PRPH2):c.205dup:p.Val69fs	coding	Pathogenic
6	42722156	AC	A	C42722157A	PRPH2	NM_000322.5(PRPH2):c.178del:p.Val60fs	coding	Pathogenic
6	42722238	T	TG	A42722240G	PRPH2	NM_000322.5(PRPH2):c.96dup:p.Ile33fs	coding	Pathogenic
6	42722241	TGCCA	T	G42722246A	PRPH2	NM_000322.5(PRPH2):c.90_93del:p.Gly31fs	coding	Pathogenic
6	42722257	GAACC	G	A42722259G	PRPH2	NM_000322.5(PRPH2):c.74_77del:p.Trp25fs	coding	Pathogenic
6	42722260	CCA	C	C42722261G	PRPH2	NM_000322.5(PRPH2):c.73_74del:p.Trp25fs	coding	Pathogenic
6	42722282	TG	T	G42722285C	PRPH2	NM_000322.5(PRPH2):c.52del:p.Gln18fs	coding	Pathogenic
6	42963226	TGGGGTGGGGGTG	T	G42963248T	GNMT	NM_018960.6(GNMT):c.594+13GGGGTG[3]	noncoding	Benign
6	42963466	TG	T	G42963471T	GNMT	NM_018960.6(GNMT):c.716+22del	noncoding	Benign
6	42964837	TCAGAG	T	C42964843A	PEX6	NM_000287.4(PEX6):c.2754_2758del:p.Cys918_Asp920delinsTer	coding	Pathogenic
6	42965139	C	CCAGCTTGTCAAATCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	A42965157T	PEX6	NC_000006.11:g.42932877_42932878insCAGCTTGTCAAATCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	coding	Pathogenic
6	42965681	CT	C	T42965682G	PEX6	NM_000287.4(PEX6):c.2470del:p.Arg824fs	coding	Pathogenic
6	42966336	TC	T	C42966337A	PEX6	NM_000287.4(PEX6):c.2205del:p.Arg736fs	coding	Pathogenic
6	42966851	AC	A	C42966852A	PEX6	NM_000287.4(PEX6):c.1891del:p.Val631fs	coding	Pathogenic
6	42967444	C	CTGAGCCGCTGCCCCTCTGACAGAGCA	G42967471T	PEX6	NM_000287.4(PEX6):c.1782_1807dup:p.Ser603fs	coding	Pathogenic
6	42967446	GA	G	A42967447G	PEX6	NM_000287.4(PEX6):c.1805del:p.Leu602fs	coding	Pathogenic
6	42967558	G	GGGCA	C42967564G	PEX6	NM_000287.4(PEX6):c.1690_1693dup:p.Pro565fs	coding	Pathogenic
6	42967560	GC	G	C42967561A	PEX6	NM_000287.4(PEX6):c.1691del:p.Cys564fs	coding	Pathogenic
6	42968183	CA	C	A42968184G	PEX6	NM_000287.4(PEX6):c.1688+106del	noncoding	Benign
6	42968296	AG	A	G42968301T	PEX6	NM_000287.4(PEX6):c.1681del:p.Leu561fs	coding	Pathogenic
6	42968404	A	AC	T42968406C	PEX6	NM_000287.4(PEX6):c.1573dup:p.Val525fs	coding	Pathogenic
6	42968455	TC	T	C42968457A	PEX6	NM_000287.4(PEX6):c.1522del:p.Glu508fs	coding	Pathogenic
6	42968937	TG	T	G42968943C	PEX6	NM_000287.4(PEX6):c.1415del:p.Pro472fs	coding	Pathogenic
6	42968948	GT	G	T42968949A	PEX6	NM_000287.4(PEX6):c.1404del:p.Arg469fs	coding	Pathogenic
6	42969677	AG	A	G42969679C	PEX6	NM_000287.4(PEX6):c.1357del:p.Leu453fs	coding	Pathogenic
6	42969721	C	CA	G42969723A	PEX6	NM_000287.4(PEX6):c.1313dup:p.Glu439fs	coding	Pathogenic
6	42969901	T	TG	T42969905G	PEX6	NM_000287.4(PEX6):c.1216dup:p.His406fs	coding	Pathogenic
6	42969979	T	TC	G42969983C	PEX6	NM_000287.4(PEX6):c.1138dup:p.Glu380fs	coding	Pathogenic
6	42974020	ACTTC	A	T42974026A	PEX6	NM_000287.4(PEX6):c.1109_1112del:p.Gly370fs	coding	Pathogenic
6	42974033	ATC	A	C42974037A	PEX6	NM_000287.4(PEX6):c.1098_1099del:p.Glu366fs	coding	Pathogenic
6	42974047	AAT	A	A42974048T	PEX6	NM_000287.4(PEX6):c.1084_1085del:p.Ile362fs	coding	Pathogenic
6	42974893	CG	C	G42974895T	PEX6	NM_000287.4(PEX6):c.1027del:p.Arg343fs	coding	Pathogenic
6	42974997	GCTTCCTTTGT	G	C42975002A	PEX6	NM_000287.4(PEX6):c.914_923del:p.Asp305fs	coding	Pathogenic
6	42975001	CCTTT	C	C42975002G	PEX6	NM_000287.4(PEX6):c.916_919del:p.Lys306fs	coding	Pathogenic
6	42978252	CCA	C	C42978253G	PEX6	NM_000287.4(PEX6):c.882+15_882+16del	noncoding	Benign/Likely_benign
6	42978294	AG	A	G42978299T	PEX6	NM_000287.4(PEX6):c.856del:p.Leu286fs	coding	Pathogenic
6	42978333	A	ACAAG	G42978339A	PEX6	NM_000287.4(PEX6):c.814_817dup:p.Val273fs	coding	Pathogenic
6	42978409	GAGGT	G	A42978410T	PEX6	NM_000287.4(PEX6):c.738_741del:p.Glu246fs	coding	Pathogenic
6	42978460	ACT	A	C42978465G	PEX6	NM_000287.4(PEX6):c.689_690del:p.Glu230fs	coding	Pathogenic
6	42978520	AG	A	G42978521C	PEX6	NM_000287.4(PEX6):c.630del:p.Cys211fs	coding	Pathogenic
6	42978619	GT	G	T42978620G	PEX6	NM_000287.4(PEX6):c.531del:p.Pro179fs	coding	Pathogenic
6	42978636	T	TC	A42978641C	PEX6	NM_000287.4(PEX6):c.514dup:p.Asp172fs	coding	Pathogenic
6	42978643	ACT	A	C42978646G	PEX6	NM_000287.4(PEX6):c.506_507del:p.Glu169fs	coding	Pathogenic/Likely_pathogenic
6	42978744	G	GA	G42978745A	PEX6	NM_000287.4(PEX6):c.406_407insT:p.Pro136fs	coding	Pathogenic
6	42978935	CGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGC	GCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGG	C42978935G	PEX6	NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC:p.Ala4fs	coding	Pathogenic
6	42978938	CG	C	G42978940C	PEX6	NM_000287.4(PEX6):c.212del:p.Pro71fs	coding	Pathogenic
6	43008175	CAAGA	C	A43008176G	PPP2R5D	NM_006245.4(PPP2R5D):c.858-25_858-22del	noncoding	Benign
6	43037425	A	ATC	G43037431C	CUL7	Single_allele	noncoding	Benign
6	43038266	CCAGA	C	G43038273A	CUL7	NM_014780.5(CUL7):c.4770_4773del:p.Cys1590fs	noncoding	Pathogenic
6	43040959	AATCAGGACAGCT	GC	A43040959G	CUL7	NM_014780.5(CUL7):c.3750_3762delinsGC:p.Ala1251fs	coding	Pathogenic
6	43043111	TTTCT	GAA	T43043111G	CUL7	NM_014780.5(CUL7):c.3421_3425delinsTTC:p.Arg1141fs	coding	Pathogenic
6	43046084	TC	T	C43046085A	CUL7	NM_014780.5(CUL7):c.2667del:p.Thr890fs	coding	Pathogenic
6	43048166	G	GT	G43048167T	CUL7	NM_014780.5(CUL7):c.2150_2151insA:p.Asn719fs	coding	Pathogenic
6	43048184	G	GC	A43048186C	CUL7	NM_014780.5(CUL7):c.2132dup:p.Cys711fs	coding	Pathogenic
6	43050549	TACACACACACACACACACAC	T	C43050587G	CUL7	NM_014780.5(CUL7):c.1234-207GT[18]	noncoding	Benign
6	43050549	TACACACACACACACACAC	T	C43050589G	CUL7	NM_014780.5(CUL7):c.1234-207GT[19]	noncoding	Benign
6	43050549	TACACACACACACACAC	T	C43050591G	CUL7	NM_014780.5(CUL7):c.1234-207GT[20]	noncoding	Benign
6	43050549	TACACAC	T	C43050601G	CUL7	NM_014780.5(CUL7):c.1234-207GT[25]	noncoding	Benign
6	43050549	TACAC	T	C43050603G	CUL7	NM_014780.5(CUL7):c.1234-207GT[26]	noncoding	Benign
6	43050549	TAC	T	C43050605G	CUL7	NM_014780.5(CUL7):c.1234-207GT[27]	noncoding	Benign
6	43051597	AC	A	C43051602A	CUL7	NM_014780.5(CUL7):c.732+14del	noncoding	Benign
6	43051693	GC	G	C43051694T	CUL7	NM_014780.5(CUL7):c.650del:p.Ser217fs	coding	Pathogenic
6	43052369	AGT	A	T43052373A	CUL7	NM_014780.5(CUL7):c.418_419del:p.Thr140fs	coding	Pathogenic
6	43517320	CT	C	T43517323C	POLR1C	NM_203290.4(POLR1C):c.87del:p.Gly31fs	coding	Pathogenic
6	43520797	CA	C	A43520799G	POLR1C	NM_203290.4(POLR1C):c.805+25del	noncoding	Benign
6	43521048	TGTGA	T	G43521051A	POLR1C	NM_203290.4(POLR1C):c.922+3_922+6del	coding	Pathogenic
6	43524352	CA	C	A43524371T	XPO5	NM_020750.3(XPO5):c.3477+118del	noncoding	Benign
6	43524732	AT	A	T43524735G	XPO5	NM_020750.3(XPO5):c.3312+98del	noncoding	Benign
6	43524804	T	TCCTTCCCCCATG	A43524825C	XPO5	NM_020750.3(XPO5):c.3312+15_3312+26dup	noncoding	Benign
6	43530422	C	CA	G43530437A	XPO5	NM_020750.3(XPO5):c.2677+265dup	noncoding	Benign
6	43530626	GT	G	T43530630G	XPO5	NM_020750.3(XPO5):c.2677+61del	noncoding	Benign
6	43531243	AAC	A	C43531247G	XPO5	NM_020750.3(XPO5):c.2540+234_2540+235del	noncoding	Benign
6	43531797	CT	C	T43531807C	XPO5	NM_020750.3(XPO5):c.2444-223del	noncoding	Benign
6	43546790	GA	G	A43546803G	XPO5	NM_020750.3(XPO5):c.2161-39del	noncoding	Benign
6	43546790	G	GA	G43546804A	XPO5	NM_020750.3(XPO5):c.2161-39dup	noncoding	Benign
6	43570764	CA	C	A43570775C	XPO5	NM_020750.3(XPO5):c.439-81del	noncoding	Benign
6	43582370	TTTTG	T	T43582373C	POLH	NM_006502.3(POLH):c.54_57del:p.Val19fs	coding	Pathogenic
6	43582422	GCAGTTGTACAGTA	G	G43582425A	POLH	NM_006502.3(POLH):c.106_118del:p.Val36fs	coding	Pathogenic
6	43600999	A	AT	C43601000T	POLH	NM_006502.3(POLH):c.672_673insT:p.Leu225fs	coding	Pathogenic
6	43610556	T	TG	A43610558G	POLH	NM_006502.3(POLH):c.1078dup:p.Asp360fs	coding	Pathogenic
6	43622521	AGT	A	G43622526T	GTPBP2	NM_019096.5(GTPBP2):c.1467+106AC[2]	noncoding	Benign
6	43624247	CCCAT	C	A43624250G	GTPBP2	NM_019096.5(GTPBP2):c.1101-183_1101-180del	noncoding	Benign
6	43624555	TCA	T	C43624556G	GTPBP2	NM_019096.5(GTPBP2):c.1053_1054del:p.Glu352fs	coding	Pathogenic
6	43645229	TTCTCTTCTGGGGC	G	T43645229G	RSPH9	NM_152732.5(RSPH9):c.131_144delinsG:p.Val44fs	coding	Pathogenic
6	43645591	TC	T	C43645596G	RSPH9	NM_152732.5(RSPH9):c.227+271del	noncoding	Benign
6	43645591	T	TC	G43645597C	RSPH9	NM_152732.5(RSPH9):c.227+271dup	noncoding	Benign
6	43656624	AG	A	G43656627A	RSPH9	NM_152732.5(RSPH9):c.574del:p.Glu192fs	coding	Pathogenic
6	44301069	T	TTGTC	G44301072T	AARS2	NM_020745.4(AARS2):c.2793+86_2793+87insCAGA	noncoding	Benign
6	44301927	CAGG	C	G44301930A	AARS2	NM_020745.4(AARS2):c.2598+130_2598+132del	noncoding	Benign
6	44302815	TC	T	C44302819A	AARS2	NM_020745.4(AARS2):c.2350del:p.Glu784fs	coding	Pathogenic
6	44302900	G	GT	A44302902T	AARS2	NM_020745.4(AARS2):c.2265dup:p.Arg756fs	coding	Pathogenic
6	44303085	CAG	C	A44303088G	AARS2	NM_020745.4(AARS2):c.2234_2235del:p.Ser745fs	coding	Pathogenic
6	44304687	GC	G	C44304693T	AARS2	NM_020745.4(AARS2):c.1709del:p.Gly570fs	coding	Pathogenic
6	44304693	CTG	C	G44304695T	AARS2	NM_020745.4(AARS2):c.1702_1703del:p.Gln568fs	coding	Pathogenic
6	44313235	A	AGC	G44313239C	AARS2	NM_020745.4(AARS2):c.87_88dup:p.Leu30fs	coding	Pathogenic
6	45328754	G	GT	G45328756T	RUNX2	NM_001024630.4(RUNX2):c.29dup:p.Thr11fs	coding	Pathogenic
6	45422671	T	TGGCTGCGCAACAGCAGCAGCAACAGCAGCAGCAGCAAC	A45422710G	RUNX2	NM_001024630.4(RUNX2):c.138_175dup:p.Gln59fs	coding	Pathogenic
6	45422734	A	AACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAG	G45422735A	RUNX2	NM_001024630.4(RUNX2):c.200_201insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAG:p.Glu72fs	coding	Pathogenic
6	45422763	GCT	G	C45422764G	RUNX2	NM_001024630.4(RUNX2):c.230_231del:p.Ala77fs	coding	Pathogenic
6	45422804	GC	G	C45422808G	RUNX2	NM_001024630.4(RUNX2):c.274del:p.Arg92fs	coding	Pathogenic
6	45422804	G	GC	G45422809C	RUNX2	NM_001024630.4(RUNX2):c.274dup:p.Arg92fs	coding	Pathogenic
6	45422937	ACCCTG	A	T45422941G	RUNX2	NM_001024630.4(RUNX2):c.407_411del:p.Leu136fs	coding	Pathogenic
6	45422954	CAAGGT	C	G45422958A	RUNX2	NM_001024630.4(RUNX2):c.423+1_423+5del	coding	Pathogenic
6	45422954	C	CA	G45422957A	RUNX2	NM_001024630.4(RUNX2):c.422dup:p.Val142fs	coding	Pathogenic
6	45423101	C	CCT	C45423105T	RUNX2	NM_001024630.4(RUNX2):c.423+146_423+147dup	noncoding	Benign
6	45431882	TACCAGATGGGA	G	T45431882G	RUNX2	NM_001024630.4(RUNX2):c.443_454delinsG:p.Val148fs	coding	Pathogenic
6	45431954	C	CT	G45431956T	RUNX2	NM_001024630.4(RUNX2):c.516dup:p.Ala173fs	coding	Pathogenic
6	45437960	CT	G	C45437960G	RUNX2	NM_001024630.4(RUNX2):c.594_595delinsG:p.Thr198_Leu199insTer	coding	Pathogenic
6	45437968	TA	T	A45437970C	RUNX2	NM_001024630.4(RUNX2):c.604del:p.Thr202fs	coding	Pathogenic
6	45437980	CA	C	A45437983T	RUNX2	NM_001024630.4(RUNX2):c.617del:p.Asn206fs	coding	Pathogenic
6	45438000	A	AC	T45438003C	RUNX2	NM_001024630.4(RUNX2):c.636dup:p.Tyr213fs	coding	Pathogenic
6	45491993	CA	C	A45491994G	RUNX2	NM_001024630.4(RUNX2):c.739del:p.Ser247fs	coding	Pathogenic
6	45492044	TCA	T	C45492045G	RUNX2	NM_001024630.4(RUNX2):c.790_791del:p.Gln264fs	coding	Pathogenic
6	45512257	GCA	G	C45512260G	RUNX2	NM_001024630.4(RUNX2):c.874_875del:p.Gln292fs	coding	Pathogenic
6	45512266	TC	T	C45512270G	RUNX2	NM_001024630.4(RUNX2):c.884del:p.Pro295fs	coding	Pathogenic
6	45545269	GAA	G	A45545270G	RUNX2	NM_001024630.4(RUNX2):c.1075_1076del:p.Lys359fs	coding	Pathogenic
6	45546952	A	ACCTC	A45546957C	RUNX2	NM_001024630.4(RUNX2):c.1214_1217dup:p.Gly407fs	coding	Pathogenic
6	45547016	AC	A	C45547020G	RUNX2	NM_001024630.4(RUNX2):c.1281del:p.Gly428fs	coding	Pathogenic
6	45547118	C	CG	A45547125G	RUNX2	NM_001024630.4(RUNX2):c.1385dup:p.Asp463fs	coding	Pathogenic
6	45941402	C	CG	T45941409G	CLIC5	NM_016929.5(CLIC5):c.406+139dup	noncoding	Benign
6	46704715	TAATC	T	T46704718C	PLA2G7	NM_005084.4(PLA2G7):c.1190-23_1190-20del	noncoding	Benign
6	47576557	C	CA	G47576559A	CD2AP	NM_012120.3(CD2AP):c.764dup:p.Ser256fs	coding	Pathogenic/Likely_pathogenic
6	47579334	T	TAAA	G47579349A	CD2AP	NM_012120.3(CD2AP):c.904-39_904-37dup	noncoding	Benign
6	47579334	T	TAA	G47579349A	CD2AP	NM_012120.3(CD2AP):c.904-38_904-37dup	noncoding	Benign
6	47579334	T	TA	G47579349A	CD2AP	NM_012120.3(CD2AP):c.904-37dup	noncoding	Benign
6	47579500	GT	G	T47579505C	CD2AP	NM_012120.3(CD2AP):c.1008+16del	noncoding	Benign
6	47599283	G	GT	C47599291T	CD2AP	NM_012120.3(CD2AP):c.1275-11dup	noncoding	Benign
6	47605976	AT	A	T47605987C	CD2AP	NM_012120.3(CD2AP):c.1418-178del	noncoding	Benign
6	47609224	G	GA	T47609233A	CD2AP	NM_012120.3(CD2AP):c.1742dup:p.Asn581fs	coding	Pathogenic
6	47609513	CAAA	C	A47609529G	CD2AP	NM_012120.3(CD2AP):c.1814+225_1814+227del	noncoding	Benign
6	47609513	CA	C	A47609531G	CD2AP	NM_012120.3(CD2AP):c.1814+227del	noncoding	Benign
6	47609513	C	CAAA	G47609532A	CD2AP	NM_012120.3(CD2AP):c.1814+225_1814+227dup	noncoding	Benign
6	47609513	C	CA	G47609532A	CD2AP	NM_012120.3(CD2AP):c.1814+227dup	noncoding	Benign
6	49431526	A	AT	A49431537T	MMUT	NM_000255.4(MMUT):c.*201dup	noncoding	Benign
6	49431526	AT	A	T49431536A	MMUT	NM_000255.4(MMUT):c.*201del	noncoding	Benign/Likely_benign
6	49431786	G	GC	A49431788C	MMUT	NM_000255.4(MMUT):c.2194dup:p.Ala732fs	coding	Pathogenic
6	49431820	CAT	C	A49431821T	MMUT	NM_000255.4(MMUT):c.2159_2160del:p.Asn720fs	coding	Pathogenic
6	49435480	CAT	C	A49435481G	MMUT	NM_000255.4(MMUT):c.2098_2099del:p.Met700fs	coding	Pathogenic
6	49435481	AT	A	T49435482G	MMUT	NM_000255.4(MMUT):c.2098del:p.Met700fs	coding	Pathogenic
6	49440215	AG	A	G49440218C	MMUT	NM_000255.4(MMUT):c.1946del:p.Pro649fs	coding	Pathogenic/Likely_pathogenic
6	49440270	GC	G	C49440271T	MMUT	NM_000255.4(MMUT):c.1891del:p.Ala631fs	coding	Pathogenic
6	49440281	A	AT	G49440283T	MMUT	NM_000255.4(MMUT):c.1880dup:p.His627fs	coding	Pathogenic
6	49441968	AC	A	C49441969A	MMUT	NM_000255.4(MMUT):c.1679del:p.Cys560fs	coding	Pathogenic
6	49444656	CA	C	A49444657C	MMUT	NM_000255.4(MMUT):c.1658del:p.Val553fs	coding	Pathogenic
6	49444669	A	AG	A49444672G	MMUT	NM_000255.4(MMUT):c.1645dup:p.Leu549fs	coding	Pathogenic
6	49444745	TG	T	G49444747A	MMUT	NM_000255.4(MMUT):c.1569del:p.Ser524fs	coding	Pathogenic
6	49445034	CAT	C	A49445035G	MMUT	NM_000255.4(MMUT):c.1561-282_1561-281del	noncoding	Benign
6	49447638	T	TAA	G49447655A	MMUT	NM_000255.4(MMUT):c.1560+16_1560+17dup	noncoding	Benign
6	49447638	T	TA	G49447655A	MMUT	NM_000255.4(MMUT):c.1560+16dup	noncoding	Benign
6	49447716	AT	A	T49447718G	MMUT	NM_000255.4(MMUT):c.1513del:p.Ile505fs	coding	Pathogenic
6	49447766	T	TC	A49447769C	MMUT	NM_000255.4(MMUT):c.1463dup:p.Val489fs	coding	Pathogenic
6	49448883	TACAG	T	A49448884C	MMUT	NM_000255.4(MMUT):c.1373_1376del:p.Ala458fs	coding	Pathogenic
6	49451562	AATGATG	A	G49451565T	MMUT	NM_000255.4(MMUT):c.1230_1235del:p.Ile411_Ile412del	coding	Pathogenic
6	49451649	C	CT	G49451651T	MMUT	NM_000255.4(MMUT):c.1148dup:p.Ser384fs	coding	Pathogenic
6	49451649	CTG	C	T49451650A	MMUT	NM_000255.4(MMUT):c.1147_1148del:p.Gln383fs	coding	Pathogenic
6	49453744	GAAGA	G	A49453749C	MMUT	NM_000255.4(MMUT):c.920_923del:p.Phe307fs	coding	Pathogenic
6	49456151	A	AG	T49456153G	MMUT	NM_000255.4(MMUT):c.839dup:p.Leu281fs	coding	Pathogenic/Likely_pathogenic
6	49456243	TA	T	A49456254T	MMUT	NM_000255.4(MMUT):c.754-7del	noncoding	Benign/Likely_benign
6	49456243	T	TA	T49456255A	MMUT	NM_000255.4(MMUT):c.754-17dup	noncoding	Benign
6	49457753	ATG	A	G49457755A	MMUT	NM_000255.4(MMUT):c.689_690del:p.Thr230fs	coding	Pathogenic
6	49457787	AT	A	T49457791G	MMUT	NM_000255.4(MMUT):c.656del:p.Asn219fs	coding	Pathogenic
6	49457817	A	AG	T49457820G	MMUT	NM_000255.4(MMUT):c.626dup:p.Pro209_Lys210insTer	coding	Pathogenic
6	49457899	A	AT	C49457906T	MMUT	NM_000255.4(MMUT):c.544dup:p.Met182fs	coding	Pathogenic
6	49457921	C	CAAAAAGAATTTTGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	C49457939A	MMUT	NM_000255.4(MMUT):c.522_523insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCAAAATTCTTTTT:p.Asp175delinsPhePhePhePhePhePheXaaXaaXaaXaaGlnCysGlyAspSerSerGlyIleTer	coding	Pathogenic
6	49458017	GT	G	T49458018G	MMUT	NM_000255.4(MMUT):c.426del:p.His143fs	coding	Pathogenic
6	49459211	GAAGTTCTTCAGGT	G	T49459216C	MMUT	NM_000255.4(MMUT):c.243_255del:p.Leu81fs	coding	Pathogenic
6	49459437	TA	T	A49459444G	MMUT	NM_000255.4(MMUT):c.29del:p.Leu10fs	coding	Pathogenic
6	49612320	CT	C	T49612327C	RHAG	NM_000324.3(RHAG):c.945+76del	noncoding	Benign
6	50823597	A	AC	T50823602C	TFAP2B	NM_003221.4(TFAP2B):c.276dup:p.Tyr93fs	coding	Pathogenic
6	50823871	CACAAACAA	C	C50823889A	TFAP2B	NM_003221.4(TFAP2B):c.540+7ACAA[4]	noncoding	Benign
6	50836055	TTCTAGTTCCA	T	T50836056G	TFAP2B	NM_003221.4(TFAP2B):c.602-5_606del	noncoding	Pathogenic
6	50843524	AT	A	T50843528A	TFAP2B	NM_003221.4(TFAP2B):c.*136del	noncoding	Benign
6	50844303	AC	A	C50844304A	TFAP2B	NM_003221.4(TFAP2B):c.*912del	noncoding	Benign
6	51619522	TG	T	G51619528A	PKHD1	NM_138694.4(PKHD1):c.11786-3del	noncoding	Benign
6	51619754	AT	A	T51619756G	PKHD1	NM_138694.4(PKHD1):c.11786-235del	noncoding	Benign
6	51627154	G	GATAAAAAGAACATTTTTAT	T51627155A	PKHD1	NM_138694.4(PKHD1):c.11666-39_11666-38insATAAAAATGTTCTTTTTAT	noncoding	Benign
6	51627417	G	GA	G51627425A	PKHD1	NM_138694.4(PKHD1):c.11666-308dup	noncoding	Benign
6	51632517	CT	C	T51632525C	PKHD1	NM_138694.4(PKHD1):c.11665+47del	noncoding	Benign
6	51632546	T	TA	C51632557A	PKHD1	NM_138694.4(PKHD1):c.11665+9dup	noncoding	Benign
6	51638799	CA	C	A51638817C	PKHD1	NM_138694.4(PKHD1):c.11506+49del	noncoding	Benign
6	51638799	C	CAAA	C51638818A	PKHD1	NM_138694.4(PKHD1):c.11506+32_11506+34dup	noncoding	Benign
6	51638799	C	CA	C51638818A	PKHD1	NM_138694.4(PKHD1):c.11506+32dup	noncoding	Benign
6	51638933	CT	C	T51638935G	PKHD1	NM_138694.4(PKHD1):c.11421del:p.Asp3808fs	coding	Pathogenic
6	51638946	C	CT	G51638948T	PKHD1	NM_138694.4(PKHD1):c.11408dup:p.Ala3804fs	coding	Pathogenic
6	51659152	GAT	G	T51659154G	PKHD1	NM_138694.4(PKHD1):c.10972_10973del:p.Ile3658fs	coding	Pathogenic/Likely_pathogenic
6	51659168	A	AC	T51659169C	PKHD1	NM_138694.4(PKHD1):c.10957_10958insG:p.Met3653fs	coding	Pathogenic
6	51659170	TG	T	G51659175T	PKHD1	NM_138694.4(PKHD1):c.10955del:p.Pro3652fs	coding	Pathogenic
6	51659366	AAGTT	A	T51659374C	PKHD1	NM_138694.4(PKHD1):c.10756_10759del:p.Asn3586fs	coding	Pathogenic
6	51659452	AC	A	C51659454T	PKHD1	NM_138694.4(PKHD1):c.10673del:p.Gly3558fs	coding	Pathogenic
6	51659733	TG	T	G51659736T	PKHD1	NM_138694.4(PKHD1):c.10392del:p.Ile3465fs	coding	Pathogenic
6	51659791	AT	A	T51659794A	PKHD1	NM_138694.4(PKHD1):c.10334del:p.Asn3445fs	coding	Pathogenic
6	51659838	C	CT	G51659840T	PKHD1	NM_138694.4(PKHD1):c.10287dup:p.Val3430fs	coding	Pathogenic
6	51744217	A	ATT	C51744218T	PKHD1	NM_138694.4(PKHD1):c.10156+167_10156+168insAA	noncoding	Benign
6	51744404	AG	A	G51744405T	PKHD1	NM_138694.4(PKHD1):c.10136del:p.Thr3379fs	coding	Pathogenic/Likely_pathogenic
6	51744431	T	TA	C51744433A	PKHD1	NM_138694.4(PKHD1):c.10109dup:p.Phe3371fs	coding	Pathogenic/Likely_pathogenic
6	51747888	AT	A	T51747889A	PKHD1	NM_138694.4(PKHD1):c.9727del:p.Ile3243fs	coding	Pathogenic
6	51748229	GC	G	C51748231A	PKHD1	NM_138694.4(PKHD1):c.9386del:p.Gly3129fs	coding	Pathogenic
6	51748267	GC	G	C51748268A	PKHD1	NM_138694.4(PKHD1):c.9348del:p.Leu3117fs	coding	Pathogenic
6	51748277	AG	A	G51748278A	PKHD1	NM_138694.4(PKHD1):c.9338del:p.Ser3113fs	coding	Pathogenic
6	51748392	GTGGACCACGCTGGC	G	G51748395T	PKHD1	NM_138694.4(PKHD1):c.9210_9223del:p.Gln3070fs	coding	Pathogenic
6	51748430	ATTA	CTGATGTCACTAAT	A51748430C	PKHD1	NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG:p.Asn3062fs	coding	Pathogenic
6	51748466	GC	G	C51748468A	PKHD1	NM_138694.4(PKHD1):c.9149del:p.Gly3050fs	coding	Pathogenic
6	51748545	C	CA	G51748547A	PKHD1	NM_138694.4(PKHD1):c.9070dup:p.Cys3024fs	coding	Pathogenic
6	51753238	CA	C	A51753239C	PKHD1	NM_138694.4(PKHD1):c.8912del:p.Val2971fs	coding	Pathogenic
6	51753321	T	TG	T51753323G	PKHD1	NM_138694.4(PKHD1):c.8829dup:p.Ile2944fs	coding	Pathogenic
6	51753371	GT	G	T51753372G	PKHD1	NM_138694.4(PKHD1):c.8798-19del	noncoding	Benign
6	51754849	AG	A	G51754851A	PKHD1	NM_138694.4(PKHD1):c.8731del:p.Leu2911fs	coding	Pathogenic
6	51754912	CA	C	A51754914T	PKHD1	NM_138694.4(PKHD1):c.8668del:p.Trp2890fs	coding	Pathogenic
6	51776075	TA	T	A51776081G	PKHD1	NM_138694.4(PKHD1):c.8441-155del	noncoding	Benign
6	51830954	AC	A	C51830956A	PKHD1	NM_138694.4(PKHD1):c.8208del:p.Trp2736fs	coding	Pathogenic
6	51836425	CT	C	T51836427C	PKHD1	NM_138694.4(PKHD1):c.8151del:p.Gly2718fs	coding	Pathogenic
6	51856089	G	GAA	T51856098A	PKHD1	NM_138694.4(PKHD1):c.7734-27_7734-26dup	noncoding	Benign/Likely_benign
6	51856089	G	GA	T51856098A	PKHD1	NM_138694.4(PKHD1):c.7734-27dup	noncoding	Benign/Likely_benign
6	51868065	AAG	A	A51868068T	PKHD1	NM_138694.4(PKHD1):c.7529_7530del:p.Ser2510fs	coding	Pathogenic
6	51870524	GA	G	A51870526C	PKHD1	NM_138694.4(PKHD1):c.7465del:p.Ser2489fs	coding	Pathogenic
6	51883399	CTAA	C	A51883401G	PKHD1	NM_138694.4(PKHD1):c.7216-175_7216-173del	noncoding	Benign
6	51903832	CATATAT	C	A51903855T	PKHD1	NM_138694.4(PKHD1):c.6865+126AT[11]	noncoding	Benign
6	51903832	CATAT	C	A51903857T	PKHD1	NM_138694.4(PKHD1):c.6865+126AT[12]	noncoding	Benign
6	51903832	CAT	C	A51903859T	PKHD1	NM_138694.4(PKHD1):c.6865+126AT[13]	noncoding	Benign
6	51903832	C	CAT	T51903861A	PKHD1	NM_138694.4(PKHD1):c.6865+126AT[15]	noncoding	Benign
6	51909306	AG	A	G51909307T	PKHD1	NM_138694.4(PKHD1):c.6658del:p.Leu2220fs	coding	Pathogenic
6	51911896	A	AG	T51911898G	PKHD1	NM_138694.4(PKHD1):c.6392dup:p.Val2132fs	coding	Pathogenic
6	51911898	TG	T	G51911900C	PKHD1	NM_138694.4(PKHD1):c.6390del:p.Thr2131fs	coding	Pathogenic
6	51911962	G	GA	G51911970A	PKHD1	NM_138694.4(PKHD1):c.6333-13dup	noncoding	Benign
6	51912400	GCA	G	C51912403G	PKHD1	NM_138694.4(PKHD1):c.6296_6297del:p.Val2099fs	coding	Pathogenic/Likely_pathogenic
6	51934126	TC	T	C51934128A	PKHD1	NM_138694.4(PKHD1):c.6104del:p.Gly2035fs	coding	Pathogenic/Likely_pathogenic
6	51934222	CT	C	T51934224G	PKHD1	NM_138694.4(PKHD1):c.6008del:p.Lys2003fs	coding	Pathogenic
6	51934287	CGATGGGTCCTGGGGCCATGAAAATCAGCTTGCCCCCTAATGGACAAAGGGAAAATTGTCAGTCCCTGGGAGGATAAGGCTT	C	G51934288A	PKHD1	NM_138694.4(PKHD1):c.5909-46_5943del	coding	Pathogenic
6	51959919	CA	C	A51959921T	PKHD1	NM_138694.4(PKHD1):c.5858del:p.Leu1953fs	coding	Pathogenic
6	51959958	TGGCAGCCTTTCAGGAAACCAGCTGTGAGTCCTGGACC	T	G51959959A	PKHD1	NM_138694.4(PKHD1):c.5783_5819del:p.Trp1928fs	coding	Pathogenic
6	51960009	CTG	C	G51960011A	PKHD1	NM_138694.4(PKHD1):c.5767_5768del:p.Gln1923fs	coding	Pathogenic
6	52017547	CA	C	A52017550T	PKHD1	NM_138694.4(PKHD1):c.5462del:p.Asp1820_Leu1821insTer	coding	Pathogenic
6	52022806	AG	A	G52022810C	PKHD1	NM_138694.4(PKHD1):c.5374del:p.Leu1792fs	coding	Pathogenic
6	52022846	T	TA	G52022848A	PKHD1	NM_138694.4(PKHD1):c.5334dup:p.Asn1779Ter	coding	Pathogenic
6	52024785	G	GA	G52024786A	PKHD1	NM_138694.4(PKHD1):c.5024_5025insT:p.Gln1676fs	coding	Pathogenic
6	52024877	ACCAAAGT	A	A52024881T	PKHD1	NM_138694.4(PKHD1):c.4926_4932del:p.Leu1643fs	coding	Pathogenic
6	52024973	AG	A	G52024975T	PKHD1	NM_138694.4(PKHD1):c.4836del:p.Cys1613fs	coding	Pathogenic
6	52024993	AC	A	C52024994T	PKHD1	NM_138694.4(PKHD1):c.4816del:p.Val1606fs	coding	Pathogenic
6	52025030	CTA	C	A52025032G	PKHD1	NM_138694.4(PKHD1):c.4778_4779del:p.Ile1593fs	coding	Pathogenic
6	52025149	T	TA	C52025156A	PKHD1	NM_138694.4(PKHD1):c.4660dup:p.Tyr1554fs	coding	Pathogenic
6	52025165	AG	A	G52025166T	PKHD1	NM_138694.4(PKHD1):c.4644del:p.Tyr1549fs	coding	Pathogenic
6	52025216	T	TA	G52025224A	PKHD1	NM_138694.4(PKHD1):c.4593dup:p.Asn1532Ter	coding	Pathogenic/Likely_pathogenic
6	52025318	A	ACT	C52025320T	PKHD1	NM_138694.4(PKHD1):c.4491_4492insAG:p.Leu1499_Thr1500insTer	coding	Pathogenic
6	52025328	GT	G	T52025331G	PKHD1	NM_138694.4(PKHD1):c.4481del:p.Asn1494fs	coding	Pathogenic
6	52025574	CA	C	A52025576C	PKHD1	NM_138694.4(PKHD1):c.4235del:p.Leu1412fs	coding	Pathogenic
6	52025585	CA	C	A52025586G	PKHD1	NM_138694.4(PKHD1):c.4224del:p.Thr1408_Val1409insTer	coding	Pathogenic
6	52025775	GC	G	C52025778T	PKHD1	NM_138694.4(PKHD1):c.4034del:p.Gly1345fs	coding	Pathogenic
6	52025783	AG	A	G52025785A	PKHD1	NM_138694.4(PKHD1):c.4026del:p.Phe1343fs	coding	Pathogenic
6	52025787	CTG	C	G52025791C	PKHD1	NM_138694.4(PKHD1):c.4021_4022del:p.Gln1341fs	coding	Pathogenic
6	52025804	A	ATC	G52025805T	PKHD1	NM_138694.4(PKHD1):c.4005_4006insGA:p.Cys1336fs	coding	Pathogenic
6	52025869	CT	C	T52025870G	PKHD1	NM_138694.4(PKHD1):c.3940del:p.Ser1314fs	coding	Pathogenic/Likely_pathogenic
6	52026055	AG	A	G52026058T	PKHD1	NM_138694.4(PKHD1):c.3754del:p.Leu1252fs	coding	Pathogenic
6	52027867	T	TC	T52027869C	PKHD1	NM_138694.4(PKHD1):c.3589dup:p.Glu1197fs	coding	Pathogenic
6	52028251	C	CTG	A52028260T	PKHD1	NM_138694.4(PKHD1):c.3463_3464dup:p.Gln1155fs	coding	Pathogenic/Likely_pathogenic
6	52028519	A	AT	G52028535T	PKHD1	NM_138694.4(PKHD1):c.3365-183dup	noncoding	Benign
6	52043023	TG	T	G52043025T	PKHD1	NM_138694.4(PKHD1):c.2932del:p.Gln978fs	coding	Pathogenic
6	52043109	GT	G	T52043110A	PKHD1	NM_138694.4(PKHD1):c.2846del:p.Tyr949fs	coding	Pathogenic
6	52043632	GT	G	T52043633A	PKHD1	NM_138694.4(PKHD1):c.2813del:p.Tyr938fs	coding	Pathogenic/Likely_pathogenic
6	52043712	CA	C	A52043713T	PKHD1	NM_138694.4(PKHD1):c.2733del:p.Asn911fs	coding	Pathogenic
6	52045016	G	GAAAAACTCCACCATCATGCTCCCTCTCCCTCTCCCTCTGTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A52045034G	PKHD1	NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT:p.Leu889fs	coding	Pathogenic
6	52045937	A	AT	G52045949T	PKHD1	NM_138694.4(PKHD1):c.2592+56dup	noncoding	Benign
6	52046005	CT	C	T52046006G	PKHD1	NM_138694.4(PKHD1):c.2590del:p.Arg864fs	coding	Pathogenic/Likely_pathogenic
6	52048558	GTC	G	C52048562G	PKHD1	NM_138694.4(PKHD1):c.2339_2340del:p.Arg780fs	coding	Pathogenic
6	52048592	CTCTT	C	T52048593C	PKHD1	NM_138694.4(PKHD1):c.2303_2306del:p.Glu768fs	coding	Pathogenic
6	52048593	TCTTCTGT	CAGA	T52048593C	PKHD1	NM_138694.4(PKHD1):c.2299_2306delinsTCTG:p.Thr767fs	coding	Pathogenic
6	52048612	GCA	G	C52048615G	PKHD1	NM_138694.4(PKHD1):c.2285_2286del:p.Val762fs	coding	Pathogenic
6	52050233	CCA	C	C52050236G	PKHD1	NM_138694.4(PKHD1):c.2201_2202del:p.Val734fs	coding	Pathogenic
6	52050255	A	AT	G52050258T	PKHD1	NM_138694.4(PKHD1):c.2180dup:p.Asn727fs	coding	Pathogenic/Likely_pathogenic
6	52050258	G	GC	T52050264C	PKHD1	NM_138694.4(PKHD1):c.2177dup:p.Asn727fs	coding	Pathogenic
6	52053130	C	CT	C52053131T	PKHD1	NM_138694.4(PKHD1):c.2085_2086insA:p.Glu696fs	coding	Pathogenic
6	52054145	GC	G	C52054147T	PKHD1	NM_138694.4(PKHD1):c.1856del:p.Gly619fs	coding	Pathogenic
6	52054147	CT	C	T52054150G	PKHD1	NM_138694.4(PKHD1):c.1854del:p.Gly619fs	coding	Pathogenic
6	52054451	TGAGGATTTTAGAGTATCTCACTTAAGAAAACCCCTGTTCTAACCCAATTACCCGTGCAACCTCGAGCAAGTAACTCAACCTCTCTGAGCCTCAGTTCCTCAACTCTAACTCCCCAGCATCCTTGGTTTCTAACTCAGTTAAAGGCAAAGCTGTTGCCACAAGAAGACTTTAGAGCAGGAGTTTTCAGCCTCGGCACTATCAATATTCTAGGGGCTGGATAATTCTTTGTCATAGGGGCTGTTCTGTGCATTATAGGATGTTCAACAGCTTCCCTGGCCTCCACCCACCAGATGCCAATAGCACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAAGGATTTAAGAAGTGTTTGCGAAATGCATCAGACAATTCAATCCATCAATAATGACAACAACTAGAGTAATAATAATTAGCCTTCACTGGGTCCTAACTGTGCAGGCACTTTACTAGATTATCTCATTTAATCTATACCACAGTCCTGAGAGATAGACCACATTACTGTCCATTTTACAGATGAGTAAATGAAGGCATACTGTACTTAAGACAGACATGGAAGGTACATTGGGTGTGGAATCAGGATTTAAAACCAGATAGTCCAATGACACAGTCTGTACTCTTAGAGATCAAAGAAAATATTGTAGCAAATAAAAACTTTCACAAGTCTCACAGCTAATACAAAGGCATTTCCAGGTAACAACACACAAGTGGGGGCCAGTGGTGTCCATTCATACCTGAAACAGCAGTCGAGAGACCTAGAACCTCAGCCTGAAACACCTTGGGCAGATCACAGCAATCACTCCTTTGTGCTTCTGAGTTTTCAGTCTTGAATCCAGAGAGCAATACCAATACCTACCCACCTGACCCAGAAGCACAAAGACTGCTACTCACGTGTGTATACTGATCTAGCCGATAGCCCTTCTGGGCAGCCGGGGGAGTAAGGACAAGGTGTCGAGGCTGACGGAGGCTGAACCTGCCACAGAAGGGCTCCGTCCCACTGGTGAGGTCCCCATCAGAGTTGGAAACTTCTGGGCCTGGATGCAGTTCAGATAAAATAGAAAGGCAGGCATAGATATTAAAAAAGACAGAGCTTCCCTACATGTGTGCA	T	G52054452T	PKHD1	NM_138694.4(PKHD1):c.1694-74_1837-287del	noncoding	Pathogenic
6	52056761	CAAGT	C	G52056764C	PKHD1	NM_138694.4(PKHD1):c.1626_1629del:p.Leu543fs	coding	Pathogenic
6	52056981	TA	T	A52056987G	PKHD1	NM_138694.4(PKHD1):c.1513-3del	noncoding	Benign
6	52058496	AC	A	C52058497A	PKHD1	NM_138694.4(PKHD1):c.1338del:p.Leu447fs	coding	Pathogenic/Likely_pathogenic
6	52058529	TC	T	C52058532T	PKHD1	NM_138694.4(PKHD1):c.1305del:p.Thr436fs	coding	Pathogenic
6	52058541	T	TA	T52058543A	PKHD1	NM_138694.4(PKHD1):c.1293dup:p.Arg432Ter	coding	Pathogenic
6	52058771	C	CTCTA	C52058811A	PKHD1	NM_138694.4(PKHD1):c.1234-206TAGA[10]	noncoding	Benign
6	52058771	C	CTCTATCTA	C52058811A	PKHD1	NM_138694.4(PKHD1):c.1234-206TAGA[11]	noncoding	Benign
6	52058771	CTCTA	C	A52058807C	PKHD1	NM_138694.4(PKHD1):c.1234-206TAGA[8]	noncoding	Benign
6	52058771	CTCTATCTATCTA	C	A52058799C	PKHD1	NM_138694.4(PKHD1):c.1234-206TAGA[6]	noncoding	Benign
6	52059933	TC	T	C52059935T	PKHD1	NM_138694.4(PKHD1):c.1227del:p.Thr410fs	coding	Pathogenic/Likely_pathogenic
6	52059963	AG	A	G52059965A	PKHD1	NM_138694.4(PKHD1):c.1197del:p.Leu400fs	coding	Pathogenic
6	52060003	AT	A	T52060006G	PKHD1	NM_138694.4(PKHD1):c.1157del:p.Asn386fs	coding	Pathogenic
6	52060029	C	CT	A52060030T	PKHD1	NM_138694.4(PKHD1):c.1131_1132insA:p.Gly378fs	coding	Pathogenic
6	52060141	AAAG	A	G52060147C	PKHD1	NM_138694.4(PKHD1):c.1119-102_1119-100del	noncoding	Benign
6	52062593	TG	T	G52062597T	PKHD1	NM_138694.4(PKHD1):c.1043del:p.Pro348fs	coding	Pathogenic
6	52062603	TCA	T	C52062604G	PKHD1	NM_138694.4(PKHD1):c.1032_1033del:p.Glu345fs	coding	Pathogenic
6	52062879	CT	C	T52062885A	PKHD1	NM_138694.4(PKHD1):c.977-220del	noncoding	Benign
6	52065133	TTATATA	T	T52065164G	PKHD1	NM_138694.4(PKHD1):c.881-119TA[15]	noncoding	Benign
6	52065184	G	GAC	G52065186C	PKHD1	NM_138694.4(PKHD1):c.881-135_881-134insTG	noncoding	Benign
6	52066003	C	CA	G52066010A	PKHD1	NM_138694.4(PKHD1):c.852dup:p.Asp285Ter	coding	Pathogenic
6	52066066	CAG	C	G52066068T	PKHD1	NM_138694.4(PKHD1):c.788_789del:p.Ser263fs	coding	Pathogenic
6	52066088	T	TA	G52066103A	PKHD1	NM_138694.4(PKHD1):c.779-25dup	noncoding	Benign
6	52070422	C	CT	G52070424T	PKHD1	NM_138694.4(PKHD1):c.690dup:p.Val231fs	coding	Pathogenic
6	52072197	TA	T	A52072206T	PKHD1	NM_138694.4(PKHD1):c.528-9del	noncoding	Benign
6	52073482	CA	C	A52073486T	PKHD1	NM_138694.4(PKHD1):c.507del:p.Phe169fs	coding	Pathogenic
6	52073519	G	GC	A52073522C	PKHD1	NM_138694.4(PKHD1):c.470dup:p.Trp158fs	coding	Pathogenic
6	52076278	GGA	G	G52076279A	PKHD1	NM_138694.4(PKHD1):c.444_445del:p.Pro149fs	coding	Pathogenic
6	52076299	AC	A	C52076300T	PKHD1	NM_138694.4(PKHD1):c.424del:p.Val142fs	coding	Pathogenic
6	52076309	C	CGATG	G52076315A	PKHD1	NM_138694.4(PKHD1):c.411_414dup:p.Val139fs	coding	Pathogenic
6	52079898	AC	A	C52079900T	PKHD1	NM_138694.4(PKHD1):c.390+1del	noncoding	Pathogenic/Likely_pathogenic
6	52080195	C	CA	G52080204A	PKHD1	NM_138694.4(PKHD1):c.282-195dup	noncoding	Benign
6	52085245	A	AAAT	C52085254T	PKHD1	NM_138694.4(PKHD1):c.-84-234ATT[3]	noncoding	Benign
6	52244610	GT	G	T52244621A	IL17F	Single_allele	noncoding	Benign
6	52420262	TGC	T	G52420265C	EFHC1	NM_018100.3(EFHC1):c.-148_-147GC[1]	noncoding	Benign/Likely_benign
6	52452899	CA	C	A52452903G	EFHC1	NM_018100.4(EFHC1):c.723+66del	coding	Benign
6	52469039	AC	A	C52469040T	EFHC1	NM_018100.4(EFHC1):c.1138-293del	noncoding	Benign
6	52479424	CTT	C	T52479425A	EFHC1	NM_018100.4(EFHC1):c.1492+175_1492+176del	noncoding	Benign
6	52493385	T	TA	T52493386A	EFHC1	NM_018100.4(EFHC1):c.*1044_*1045insA	noncoding	Benign
6	52493386	T	TATATATATATATA	T52493387A	EFHC1	NM_018100.4(EFHC1):c.*1045_*1046insATATATATATATA	noncoding	Benign
6	53269306	C	CACAG	T53269311A	ELOVL5	NM_021814.5(ELOVL5):c.757-40_757-37dup	noncoding	Benign
6	53269366	C	CCTTTT	A53269367C	ELOVL5	NM_021814.5(ELOVL5):c.757-97_757-96insAAAAG	noncoding	Benign
6	53272911	CACACACATAT	C	T53272921C	ELOVL5	NM_021814.5(ELOVL5):c.621+299_621+308del	noncoding	Benign
6	53273405	TA	T	A53273419T	ELOVL5	NM_021814.5(ELOVL5):c.497-62del	noncoding	Benign
6	53498689	GGGCT	G	G53498695A	GCLC	NM_001498.4(GCLC):c.*59AGCC[1]	noncoding	Benign
6	53499011	GT	G	T53499021A	GCLC	NM_001498.4(GCLC):c.1703-45del	noncoding	Benign
6	53508826	G	GCTCCAC	A53508828T	GCLC	NM_001498.4(GCLC):c.829-116_829-115insGGTGGA	noncoding	Benign
6	53514063	A	AT	G53514065T	GCLC	NM_001498.4(GCLC):c.753+140dup	noncoding	Benign
6	53515783	GA	G	A53515793T	GCLC	NM_001498.4(GCLC):c.560+325del	noncoding	Benign
6	53544653	C	CCCTCCTCCT	G53544677T	GCLC	NM_001498.4(GCLC):c.-29AGG[10]	noncoding	Benign
6	53544653	C	CCCTCCT	G53544677T	GCLC	NM_001498.4(GCLC):c.-29AGG[9]	noncoding	Benign
6	56465867	TAA	T	A56465884G	DST	NM_001374736.1(DST):c.22687+209_22687+210del	noncoding	Benign
6	56465867	TA	T	A56465885G	DST	NM_001374736.1(DST):c.22687+210del	noncoding	Benign
6	56465867	T	TA	G56465886A	DST	NM_001374736.1(DST):c.22687+193dup	noncoding	Benign
6	56469720	AC	A	C56469721A	DST	NM_001374736.1(DST):c.22551+162del	noncoding	Benign
6	56472334	CG	C	G56472335C	DST	NM_001374736.1(DST):c.21995-113del	noncoding	Benign
6	56476350	CAG	C	G56476352A	DST	NM_001374736.1(DST):c.21676-15_21676-14del	noncoding	Benign
6	56482187	TCA	T	A56482201C	DST	NM_001374736.1(DST):c.21403-23TG[6]	noncoding	Benign
6	56482187	T	TCACACACACACACACACACACA	C56482203A	DST	NM_001374736.1(DST):c.21403-23TG[18]	noncoding	Benign
6	56482187	T	TCACACACACACACACACACACACA	C56482203A	DST	NM_001374736.1(DST):c.21403-23TG[19]	noncoding	Benign/Likely_benign
6	56482364	T	TA	G56482374A	DST	NM_001374736.1(DST):c.21403-195dup	noncoding	Benign
6	56492442	GA	G	A56492449G	DST	NM_001374736.1(DST):c.20551-10del	noncoding	Benign
6	56492442	G	GA	G56492450A	DST	NM_001374736.1(DST):c.20551-16dup	noncoding	Benign
6	56515266	CAT	C	A56515267G	DST	NM_001374736.1(DST):c.18576+182_18576+183del	noncoding	Benign
6	56536761	AG	A	G56536766T	DST	NM_001374736.1(DST):c.16770+17del	noncoding	Benign
6	56553431	CT	C	T56553433C	DST	NM_001374736.1(DST):c.15360del:p.Gly5121fs	coding	Pathogenic
6	56557524	AG	A	G56557525A	DST	NM_001374736.1(DST):c.14441-7del	noncoding	Benign/Likely_benign
6	56562297	C	CTGAGTGTTGAAA	A56562298T	DST	NM_001374736.1(DST):c.14006-98_14006-97insTTTCAACACTCA	noncoding	Benign
6	56572113	T	TATATTTTATTCTATTTATATTA	C56572116A	DST	NM_001374736.1(DST):c.13707_13708insTAATATAAATAGAATAAAATAT:p.Thr4570Ter	coding	Pathogenic
6	56572822	TA	T	A56572827T	DST	NM_001374736.1(DST):c.13478del:p.Phe4492_Leu4493insTer	coding	Pathogenic
6	56573658	CT	C	T56573666A	DST	NM_001374736.1(DST):c.13236+20del	noncoding	Benign
6	56574159	TA	T	A56574162C	DST	NM_001374736.1(DST):c.13028-273del	noncoding	Benign
6	56578914	ACTT	TA	A56578914T	DST	NM_001374736.1(DST):c.12924_12927delinsTA:p.Ser4309fs	coding	Pathogenic
6	56591981	CA	C	A56592003T	DST	NM_001374736.1(DST):c.12903+200del	noncoding	Benign
6	56591981	C	CAA	T56592004A	DST	NM_001374736.1(DST):c.12903+179_12903+180dup	noncoding	Benign
6	56591981	C	CA	T56592004A	DST	NM_001374736.1(DST):c.12903+179dup	noncoding	Benign
6	56598797	TAC	T	C56598799G	DST	NM_001374736.1(DST):c.11695-90_11695-89del	noncoding	Benign
6	56611384	T	TAAGTA	T56611387G	DST	NM_001374736.1(DST):c.5147+123_5147+124insTTTAC	noncoding	Benign
6	56616037	AG	A	G56616040C	DST	NM_001723.7(DST):c.7429del:p.Leu2477fs	coding	Pathogenic
6	56616369	A	AT	A56616371T	DST	NM_001723.7(DST):c.7097dup:p.Tyr2366Ter	coding	Pathogenic
6	56617079	T	TA	G56617082A	DST	NM_001723.7(DST):c.6387dup:p.Asn2130Ter	coding	Pathogenic
6	56618083	TTC	T	T56618086A	DST	NM_001723.7(DST):c.5949_5950del:p.Lys1984fs	coding	Pathogenic
6	56618676	GT	G	T56618680C	DST	NM_001723.7(DST):c.5357del:p.Asn1786fs	coding	Pathogenic
6	56619330	AC	A	C56619331A	DST	NM_001723.7(DST):c.4703del:p.Cys1568fs	coding	Pathogenic
6	56619556	GC	G	C56619559T	DST	NM_001723.7(DST):c.4477del:p.Ala1493fs	coding	Pathogenic
6	56620468	GC	G	C56620471T	DST	NM_001723.7(DST):c.3565del:p.Ala1189fs	coding	Pathogenic
6	56620650	TG	T	G56620651C	DST	NM_001723.7(DST):c.3383del:p.Ala1128fs	coding	Pathogenic
6	56624603	G	GTA	C56624609A	DST	NM_001374736.1(DST):c.4854_4855dup:p.Thr1619fs	coding	Pathogenic
6	56627255	GCT	G	C56627258G	DST	NM_001374736.1(DST):c.4669_4670del:p.Ser1557fs	coding	Pathogenic
6	56631266	C	CATTA	G56631272T	DST	NM_001374736.1(DST):c.4083_4086dup:p.Val1363Ter	coding	Pathogenic
6	56631336	AT	A	T56631339G	DST	NM_001374736.1(DST):c.4016del:p.Asn1339fs	coding	Pathogenic
6	56639679	TA	T	A56639690C	DST	NM_001374736.1(DST):c.2697+16del	noncoding	Benign
6	56639679	T	TA	C56639691A	DST	NM_001374736.1(DST):c.2697+16dup	noncoding	Benign
6	56640133	AT	A	T56640140A	DST	NM_001374736.1(DST):c.2490+9del	noncoding	Benign
6	56735556	T	TCACCACCACCACCAC	T56735574C	DST	NM_001374736.1(DST):c.626-282GTG[10]	noncoding	Benign
6	56843724	GGTGGAGA	G	A56843731G	DST	NM_001374736.1(DST):c.625+7666_625+7672del	noncoding	Benign
6	56900227	ACTAT	A	T56900233C	DST	NM_001374736.1(DST):c.417+190_417+193del	noncoding	Benign
6	56900875	C	CA	G56900892A	DST	NM_001374736.1(DST):c.217-270dup	noncoding	Benign
6	56954568	A	AGGAAAGCCGC	C56954581A	DST	NM_001374736.1(DST):c.10_19dup:p.Leu7fs	coding	Pathogenic
6	57210051	GA	G	A57210061G	RAB23	NM_016277.5(RAB23):c.155+174del	noncoding	Benign
6	57210051	G	GA	G57210062A	RAB23	NM_016277.5(RAB23):c.155+165dup	noncoding	Benign
6	57210298	CG	C	G57210299C	RAB23	NM_016277.5(RAB23):c.82del:p.Arg28fs	coding	Pathogenic
6	63720628	A	AAACATTGTATCCTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A63720645T	EYS	NM_001142800.2(EYS):c.9402_9403insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGGATACAATGTT:p.Tyr3135fs	coding	Pathogenic
6	63720630	AC	A	C63720631A	EYS	NM_001142800.2(EYS):c.9400del:p.Val3134fs	coding	Pathogenic/Likely_pathogenic
6	63720676	GA	G	A63720682T	EYS	NM_001142800.2(EYS):c.9354del:p.Gln3119fs	coding	Pathogenic
6	63720691	C	CT	A63720695T	EYS	NM_001142800.2(EYS):c.9339dup:p.Asp3114fs	coding	Pathogenic
6	63720724	TCTCTTGAGTAACGATATTTACCTTTCTACCATATTCAAAGCCCCCTAGATAACAAATGCCATCATAGTTTAGAGCCACAAAGTTTTTATGTGGATCAATATCCTCGGAAAGAATTAGACTGTTATTTATGTAGGCCTTGATAAGAGTCTGATTTTGAATTACAACTACATGGTGCCATTTATTACAACAGAATGTGCCATTGTTATAGCTCATAGGCACAGAGATTCTTTCTCCCAAGTTAACTGCTATTTTCAAGGTCTGATTATGGAGACCAATTGCCAGAAAATC	ACCAATTTTAAAAAAAATTTTAAAAAAA	T63720724A	EYS	NM_001142800.2(EYS):c.9019_9307delinsTTTTTTTAAAATTTTTTTTAAAATTGGT:p.Asp3007_Ile3103delinsPhePheTer	coding	Pathogenic
6	63720744	ACC	A	C63720745T	EYS	NM_001142800.2(EYS):c.9285_9286del:p.Lys3095fs	coding	Pathogenic
6	63720752	A	ACC	A63720755C	EYS	NM_001142800.2(EYS):c.9277_9278dup:p.Arg3094fs	coding	Pathogenic
6	63720791	GTT	G	T63720793A	EYS	NM_001142800.2(EYS):c.9238_9239del:p.Asn3080fs	coding	Pathogenic
6	63720839	TAG	T	G63720841C	EYS	NM_001142800.2(EYS):c.9190_9191del:p.Leu3064fs	coding	Pathogenic
6	63720863	GAT	G	T63720865A	EYS	NM_001142800.2(EYS):c.9166_9167del:p.Ile3056fs	coding	Pathogenic/Likely_pathogenic
6	63720863	G	GGGGA	A63720864G	EYS	NM_001142800.2(EYS):c.9167_9168insTCCC:p.Lys3057fs	coding	Pathogenic
6	63720870	GTC	G	C63720872G	EYS	NM_001142800.2(EYS):c.9159_9160del:p.Gln3053fs	coding	Pathogenic
6	63720971	T	TA	T63720973A	EYS	NM_001142800.2(EYS):c.9059dup:p.Ala3021fs	coding	Pathogenic
6	63721162	CA	C	A63721163G	EYS	NM_001142800.2(EYS):c.8868del:p.Ala2957fs	coding	Pathogenic
6	63721172	TG	T	G63721173A	EYS	NM_001142800.2(EYS):c.8858del:p.Ser2953fs	coding	Pathogenic
6	63721178	TTTGTTTTCACAATACCTTCCCACCCAACCCAAAGTACACAGGCAACTGTAAGAAAATGATTGGTCAGGTATACATAAAGA	T	T63721182G	EYS	NM_001142800.2(EYS):c.8773_8852del:p.Ser2925fs	coding	Pathogenic
6	63721242	TC	T	C63721243A	EYS	NM_001142800.2(EYS):c.8788del:p.Asp2930fs	coding	Pathogenic
6	63721338	GA	G	A63721343G	EYS	NM_001142800.2(EYS):c.8692del:p.Ser2898fs	coding	Pathogenic
6	63721352	A	AT	A63721356T	EYS	NM_001142800.2(EYS):c.8678dup:p.Asn2893fs	coding	Pathogenic
6	63721413	TCA	T	A63721415C	EYS	NM_001142800.2(EYS):c.8616_8617del:p.Asp2873fs	coding	Pathogenic
6	63721487	GA	G	A63721488T	EYS	NM_001142800.2(EYS):c.8543del:p.Ile2848fs	coding	Pathogenic
6	63721514	A	AT	C63721519T	EYS	NM_001142800.2(EYS):c.8516dup:p.Asn2839fs	coding	Pathogenic
6	63721684	AAGTACTTCCGTTT	A	G63721686T	EYS	NM_001142800.2(EYS):c.8334_8346del:p.Asn2779fs	coding	Pathogenic
6	63721689	CTTCC	TATAGTTTATAGTTTATAGTTTATAGTTTATAGTTTATAGTTTATAGTTATAGTTTATA	C63721689T	EYS	NM_001142800.2(EYS):c.8338_8342delinsTATAAACTATAACTATAAACTATAAACTATAAACTATAAACTATAAACTATAAACTATA:p.Gly2780_Ser2781delinsTyrLysLeuTer	coding	Pathogenic
6	63721703	T	TA	C63721705A	EYS	NM_001142800.2(EYS):c.8327dup:p.Thr2777fs	coding	Pathogenic
6	63721758	TGAACG	T	G63721763T	EYS	NM_001142800.2(EYS):c.8268_8272del:p.Val2757fs	coding	Pathogenic
6	63721787	T	TA	T63721794A	EYS	NM_001142800.2(EYS):c.8243dup:p.Leu2748fs	coding	Pathogenic
6	63726562	A	AT	C63726564T	EYS	NM_001142800.2(EYS):c.8189dup:p.Asp2730fs	coding	Pathogenic
6	63726583	CT	C	T63726584G	EYS	NM_001142800.2(EYS):c.8168del:p.Gln2723fs	coding	Pathogenic/Likely_pathogenic
6	63726592	AAT	A	A63726595G	EYS	NM_001142800.2(EYS):c.8158_8159del:p.Ile2720fs	coding	Pathogenic
6	63726595	ATG	A	G63726599C	EYS	NM_001142800.2(EYS):c.8155_8156del:p.His2719fs	coding	Pathogenic/Likely_pathogenic
6	63726601	CT	C	T63726607C	EYS	NM_001142800.2(EYS):c.8150del:p.Lys2717fs	coding	Pathogenic
6	63726649	GC	G	C63726650T	EYS	NM_001142800.2(EYS):c.8102del:p.Ser2701fs	coding	Pathogenic
6	63762561	GT	G	T63762562C	EYS	NM_001142800.2(EYS):c.7970del:p.Asp2657fs	coding	Pathogenic
6	63762587	CTG	C	G63762589C	EYS	NM_001142800.2(EYS):c.7943_7944del:p.Thr2648fs	coding	Pathogenic
6	63778015	GT	G	T63778017C	EYS	NM_001142800.2(EYS):c.7888del:p.Thr2630fs	coding	Pathogenic
6	63778101	ATTTGG	A	T63778102G	EYS	NM_001142800.2(EYS):c.7798_7802del:p.Pro2600fs	coding	Pathogenic
6	63778161	TTGAAGAG	T	G63778166A	EYS	NM_001142800.2(EYS):c.7736_7742del:p.Thr2579fs	coding	Pathogenic/Likely_pathogenic
6	63788181	CTG	C	T63788182A	EYS	NM_001142800.2(EYS):c.7645_7646del:p.Gln2549fs	coding	Pathogenic
6	63788260	G	GA	C63788269A	EYS	NM_001142800.2(EYS):c.7579-12dup	noncoding	Benign
6	63789094	AAC	A	C63789096G	EYS	NM_001142800.2(EYS):c.7540_7541del:p.Val2514fs	coding	Pathogenic
6	63806267	TGG	T	G63806268A	EYS	NM_001142800.2(EYS):c.7332_7333del:p.Phe2444fs	coding	Pathogenic
6	63806323	G	GT	A63806325T	EYS	NM_001142800.2(EYS):c.7277dup:p.Tyr2426Ter	coding	Pathogenic
6	63806377	GA	G	A63806383C	EYS	NM_001142800.2(EYS):c.7229-6del	noncoding	Benign
6	63864185	CC	TA	C63864185T	EYS	NM_001142800.2(EYS):c.7228_7228+1delinsTA	noncoding	Pathogenic/Likely_pathogenic
6	63864368	G	GA	T63864375A	EYS	NM_001142800.2(EYS):c.7056-11dup	noncoding	Benign
6	63864499	C	CTT	C63864504T	EYS	NM_001142800.2(EYS):c.7056-145_7056-144dup	noncoding	Benign
6	63864503	T	TTC	C63864504T	EYS	NM_001142800.2(EYS):c.7056-146_7056-145insGA	noncoding	Benign
6	63984421	AC	A	C63984422A	EYS	NM_001142800.2(EYS):c.7016del:p.Cys2339fs	coding	Pathogenic
6	63999091	ATC	A	C63999095G	EYS	NM_001142800.2(EYS):c.6816_6817del:p.Glu2272fs	coding	Pathogenic
6	63999095	CTG	C	G63999099C	EYS	NM_001142800.2(EYS):c.6812_6813del:p.Thr2271fs	coding	Pathogenic/Likely_pathogenic
6	64066342	TTG	T	T64066345A	EYS	NM_001142800.2(EYS):c.6719_6720del:p.Thr2240fs	coding	Pathogenic
6	64066498	G	GA	G64066506A	EYS	NM_001142800.2(EYS):c.6572-8dup	noncoding	Benign
6	64081944	C	CAAAAAGGGCAGTTCTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A64081960G	EYS	NM_001142800.2(EYS):c.6482_6483insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAGAACTGCCCTTTTT:p.Phe2160_Leu2161insPhePhePhePhePhePhePheXaaXaaXaaXaaProLysThrIleLysThrLeuGluGluAsnLeuGlyIleThrIleGlnAspIleGlyValGlyLysAspPheMetSerLysThrProLysAlaMetAlaThrGluLeuProPhe	coding	Pathogenic
6	64230622	GTGGACAGTCACAT	G	C64230627A	EYS	NM_001142800.2(EYS):c.6381_6393del:p.Gln2127fs	coding	Pathogenic
6	64230727	CAG	C	A64230730G	EYS	NM_001142800.2(EYS):c.6287_6288del:p.Ser2096fs	coding	Pathogenic
6	64307026	GTTAT	G	A64307033C	EYS	NM_001142800.2(EYS):c.6131_6134del:p.Asn2044fs	coding	Pathogenic
6	64307084	TGAGA	T	G64307103A	EYS	NM_001142800.2(EYS):c.6079-24TC[9]	noncoding	Benign
6	64388694	A	AT	C64388699T	EYS	NM_001142800.2(EYS):c.6073dup:p.Ile2025fs	coding	Pathogenic
6	64388702	A	ATG	A64388705T	EYS	NM_001142800.2(EYS):c.6064_6065dup:p.Gly2023fs	coding	Pathogenic
6	64388840	CCTG	C	C64388841T	EYS	NM_001142800.2(EYS):c.5928-3_5928-1del	coding	Pathogenic
6	64439157	CTTACCT	C	C64439161A	EYS	NM_001142800.2(EYS):c.5834_5835+4del	noncoding	Pathogenic
6	64439162	CT	C	T64439165A	EYS	NM_001142800.2(EYS):c.5834del:p.Lys1945fs	coding	Pathogenic
6	64439210	TA	T	A64439213T	EYS	NM_001142800.2(EYS):c.5786del:p.Asn1928_Leu1929insTer	coding	Pathogenic
6	64439335	A	ATT	A64439336T	EYS	NM_001142800.2(EYS):c.5661_5662insAA:p.Tyr1888fs	coding	Pathogenic
6	64590332	A	ACTAGG	G64590340A	EYS	NM_001142800.2(EYS):c.5530_5534dup:p.Val1846fs	coding	Pathogenic
6	64590524	CACTGAGCCTGTCAATGGTGGCAGA	C	A64590525T	EYS	NM_001142800.2(EYS):c.5319_5342del:p.Asn1773_Val1781delinsLys	coding	Pathogenic
6	64590570	TG	T	G64590571T	EYS	NM_001142800.2(EYS):c.5296del:p.His1766fs	coding	Pathogenic
6	64590756	A	AT	C64590761T	EYS	NM_001142800.2(EYS):c.5110dup:p.Ile1704fs	coding	Pathogenic
6	64590888	CAT	C	T64590890A	EYS	NM_001142800.2(EYS):c.4977_4978del:p.Cys1660fs	coding	Pathogenic
6	64591003	CCACTGATGGTGTTATTTCAGTAG	C	C64591006G	EYS	NM_001142800.2(EYS):c.4841_4863del:p.Ala1614fs	coding	Pathogenic
6	64591004	CACTG	C	C64591006T	EYS	NM_001142800.2(EYS):c.4859_4862del:p.Ser1620fs	coding	Pathogenic
6	64591051	TG	T	G64591052A	EYS	NM_001142800.2(EYS):c.4815del:p.Thr1606fs	coding	Pathogenic
6	64591192	ATGTTGCACAT	A	T64591193G	EYS	NM_001142800.2(EYS):c.4665_4674del:p.Cys1556fs	coding	Pathogenic
6	64591309	CT	C	T64591313G	EYS	NM_001142800.2(EYS):c.4557del:p.Ala1520fs	coding	Pathogenic
6	64591473	G	GC	T64591480C	EYS	NM_001142800.2(EYS):c.4393dup:p.Ala1465fs	coding	Pathogenic/Likely_pathogenic
6	64591659	AT	A	T64591660A	EYS	NM_001142800.2(EYS):c.4207del:p.Ile1403fs	coding	Pathogenic
6	64591671	AT	A	T64591673A	EYS	NM_001142800.2(EYS):c.4195del:p.Met1399fs	coding	Pathogenic
6	64591714	G	GA	G64591721A	EYS	NM_001142800.2(EYS):c.4152dup:p.Pro1385fs	coding	Pathogenic
6	64591793	TG	T	G64591796T	EYS	NM_001142800.2(EYS):c.4073del:p.Pro1358fs	coding	Pathogenic
6	64591854	CTG	C	G64591858T	EYS	NM_001142800.2(EYS):c.4011_4012del:p.His1337fs	coding	Pathogenic
6	64591914	GGT	G	T64591918C	EYS	NM_001142800.2(EYS):c.3951_3952del:p.Pro1318fs	coding	Pathogenic
6	64591981	GT	G	T64591985G	EYS	NM_001142800.2(EYS):c.3885del:p.Lys1295fs	coding	Pathogenic
6	64593022	GAA	G	A64593031G	EYS	NM_001142800.2(EYS):c.3877+93_3877+94del	noncoding	Benign
6	64593022	GA	G	A64593032G	EYS	NM_001142800.2(EYS):c.3877+94del	noncoding	Benign
6	64593099	T	TA	T64593100A	EYS	NM_001142800.2(EYS):c.3877+17_3877+18insT	noncoding	Benign
6	64593131	T	TA	G64593134A	EYS	NM_001142800.2(EYS):c.3862dup:p.Tyr1288fs	coding	Pathogenic
6	64593209	GTA	G	A64593213G	EYS	NM_001142800.2(EYS):c.3783_3784del:p.Thr1262fs	coding	Pathogenic
6	64593224	G	GAA	T64593228A	EYS	NM_001142800.2(EYS):c.3768_3769dup:p.Ser1257fs	coding	Pathogenic
6	64617445	CG	TT	C64617445T	EYS	NM_001142800.2(EYS):c.3656_3657delinsAA:p.Ser1219Ter	coding	Pathogenic
6	64617513	C	CA	C64617515A	EYS	NM_001142800.2(EYS):c.3588dup:p.Glu1197Ter	coding	Pathogenic
6	64617519	GGT	G	G64617522C	EYS	NM_001142800.2(EYS):c.3581_3582del:p.His1194fs	coding	Pathogenic/Likely_pathogenic
6	64626121	CT	C	T64626122G	EYS	NM_001142800.2(EYS):c.3567del:p.Gly1190fs	coding	Pathogenic/Likely_pathogenic
6	64626251	GA	G	A64626259T	EYS	NM_001142800.2(EYS):c.3444-7del	noncoding	Benign
6	64626251	G	GA	T64626260A	EYS	NM_001142800.2(EYS):c.3444-7dup	noncoding	Benign
6	64626259	AT	A	T64626260G	EYS	NM_001142800.2(EYS):c.3444-15del	noncoding	Benign
6	64813435	AC	A	C64813436T	EYS	NM_001142800.2(EYS):c.3385del:p.Val1129fs	coding	Pathogenic
6	64813457	CA	C	A64813458C	EYS	NM_001142800.2(EYS):c.3363del:p.Cys1121fs	coding	Pathogenic
6	64813554	CA	C	A64813555T	EYS	NM_001142800.2(EYS):c.3266del:p.Met1089fs	coding	Pathogenic
6	64822635	T	TA	T64822644A	EYS	NM_001142800.2(EYS):c.3164+8dup	noncoding	Benign
6	64822702	TGTGTTCC	GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T64822702G	EYS	NM_001142800.2(EYS):c.3106_3113delinsTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC:p.Gly1036_His1038delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheIleIleLeuTer	coding	Pathogenic
6	64822813	CA	C	A64822814G	EYS	NM_001142800.2(EYS):c.3001del:p.Cys1001fs	coding	Pathogenic
6	64886709	G	GTTGT	G64886710T	EYS	NM_001142800.2(EYS):c.2979_2980insACAA:p.Pro994fs	coding	Pathogenic
6	64886834	CA	C	A64886841T	EYS	NM_001142800.2(EYS):c.2854del:p.Cys952fs	coding	Pathogenic
6	64886834	C	CA	T64886842A	EYS	NM_001142800.2(EYS):c.2854dup:p.Cys952fs	coding	Pathogenic
6	64902059	T	TATTA	C64902060A	EYS	NM_001142800.2(EYS):c.2846+53_2846+54insTAAT	noncoding	Benign
6	64902128	ACACATGTTCCATTATTTTTG	A	C64902131A	EYS	NM_001142800.2(EYS):c.2811_2830del:p.Lys938fs	coding	Pathogenic
6	64902141	TA	T	A64902142T	EYS	NM_001142800.2(EYS):c.2817del:p.Asn939fs	coding	Pathogenic
6	64902229	CA	C	A64902235T	EYS	NM_001142800.2(EYS):c.2739-10del	noncoding	Benign
6	64902229	C	CA	T64902236A	EYS	NM_001142800.2(EYS):c.2739-10dup	noncoding	Benign
6	64902425	TCA	T	C64902428G	EYS	NM_001142800.2(EYS):c.2715_2716del:p.Cys905_Glu906delinsTer	coding	Pathogenic
6	64902447	AG	A	G64902449A	EYS	NM_001142800.2(EYS):c.2694del:p.Cys899fs	coding	Pathogenic
6	64902489	T	TA	C64902491A	EYS	NM_001142800.2(EYS):c.2652dup:p.Lys885Ter	coding	Pathogenic/Likely_pathogenic
6	64912570	AG	A	G64912572T	EYS	NM_001142800.2(EYS):c.2554del:p.Leu852fs	coding	Pathogenic
6	64912638	GA	G	A64912639T	EYS	NM_001142800.2(EYS):c.2486del:p.Ile829fs	coding	Pathogenic
6	64912650	AT	A	T64912651G	EYS	NM_001142800.2(EYS):c.2474del:p.His825fs	coding	Pathogenic
6	64945799	CT	C	T64945803G	EYS	NM_001142800.2(EYS):c.2374del:p.Ser792fs	coding	Pathogenic
6	64945897	GCA	G	A64945905T	EYS	NM_001142800.2(EYS):c.2275_2276del:p.Cys759fs	coding	Pathogenic/Likely_pathogenic
6	64997417	TA	T	A64997428G	EYS	NM_001142800.2(EYS):c.2259+164del	noncoding	Benign
6	65057740	G	GAA	G65057741A	EYS	NM_001142800.2(EYS):c.2024-14_2024-13insTT	noncoding	Benign
6	65057740	G	GA	G65057741A	EYS	NM_001142800.2(EYS):c.2024-14_2024-13insT	noncoding	Benign/Likely_benign
6	65057741	GA	G	A65057750T	EYS	NM_001142800.2(EYS):c.2024-15del	noncoding	Benign
6	65057741	G	GA	T65057751A	EYS	NM_001142800.2(EYS):c.2024-15dup	noncoding	Benign/Likely_benign
6	65295716	AT	A	T65295727A	EYS	NM_001142800.2(EYS):c.2023+146del	noncoding	Benign
6	65295846	G	GA	G65295847A	EYS	NM_001142800.2(EYS):c.2023+16_2023+17insT	noncoding	Benign
6	65295847	GA	G	A65295857C	EYS	NM_001142800.2(EYS):c.2023+15del	noncoding	Benign/Likely_benign
6	65295972	GTTCC	G	C65295975T	EYS	NM_001142800.2(EYS):c.1910_1913del:p.Arg637fs	coding	Pathogenic
6	65296073	CA	C	A65296074T	EYS	NM_001142800.2(EYS):c.1812del:p.Asn604fs	coding	Pathogenic
6	65335101	CCTGA	C	A65335105T	EYS	NM_001142800.2(EYS):c.1641_1644del:p.Ser547fs	coding	Pathogenic
6	65335105	ACTGT	A	G65335108T	EYS	NM_001142800.2(EYS):c.1637_1640del:p.Asp546fs	coding	Pathogenic
6	65335142	CA	C	A65335145T	EYS	NM_001142800.2(EYS):c.1603del:p.Cys535fs	coding	Pathogenic
6	65344100	AG	A	G65344102T	EYS	NM_001142800.2(EYS):c.1536del:p.Tyr513fs	coding	Pathogenic
6	65344134	GAA	G	A65344136T	EYS	NM_001142800.2(EYS):c.1501_1502del:p.Phe501fs	coding	Pathogenic
6	65344150	AC	A	C65344154T	EYS	NM_001142800.2(EYS):c.1486del:p.Val496fs	coding	Pathogenic
6	65344181	TAA	T	A65344189G	EYS	NM_001142800.2(EYS):c.1460-6_1460-5del	noncoding	Benign
6	65344181	TA	T	A65344190G	EYS	NM_001142800.2(EYS):c.1460-5del	noncoding	Benign
6	65353516	AC	A	C65353518A	EYS	NM_001142800.2(EYS):c.1400del:p.Gly467fs	coding	Pathogenic
6	65353529	A	AT	C65353530T	EYS	NM_001142800.2(EYS):c.1387_1388insA:p.Val463fs	coding	Pathogenic
6	65353557	TTA	T	T65353558G	EYS	NM_001142800.2(EYS):c.1358_1359del:p.Leu453fs	coding	Pathogenic
6	65384412	A	AC	A65384415C	EYS	NM_001142800.2(EYS):c.1272dup:p.Cys425fs	coding	Pathogenic
6	65384424	TC	T	C65384425A	EYS	NM_001142800.2(EYS):c.1260del:p.Asn421fs	coding	Pathogenic
6	65384473	GT	G	T65384480C	EYS	NM_001142800.2(EYS):c.1211del:p.Asn404fs	coding	Pathogenic
6	65402617	T	TA	T65402625A	EYS	NM_001142800.2(EYS):c.1057-19dup	noncoding	Benign
6	65405385	C	CAA	G65405388A	EYS	NM_001142800.2(EYS):c.863-20_863-19dup	noncoding	Benign
6	65405388	G	GAAA	G65405398A	EYS	NM_001142800.2(EYS):c.863-30_863-28dup	noncoding	Benign
6	65405388	G	GAA	G65405398A	EYS	NM_001142800.2(EYS):c.863-30_863-29dup	noncoding	Benign
6	65405388	G	GAGA	A65405390G	EYS	NM_001142800.2(EYS):c.863-22_863-21insTTC	noncoding	Benign
6	65490652	TC	T	C65490654A	EYS	NM_001142800.2(EYS):c.803del:p.Gly268fs	coding	Pathogenic/Likely_pathogenic
6	65490669	G	GT	G65490671T	EYS	NM_001142800.2(EYS):c.786dup:p.His263fs	coding	Pathogenic/Likely_pathogenic
6	65490706	TC	T	C65490708T	EYS	NC_000006.11:g.66200600del	coding	Pathogenic
6	65490726	G	GT	A65490735T	EYS	NM_001142800.2(EYS):c.749-20dup	noncoding	Benign
6	65490726	GT	G	T65490734A	EYS	NM_001142800.2(EYS):c.749-20del	noncoding	Benign
6	65494673	TG	T	G65494676T	EYS	NM_001142800.2(EYS):c.737del:p.Pro246fs	coding	Pathogenic
6	65494767	TCAAGTTC	T	A65494769T	EYS	NM_001142800.2(EYS):c.637_643del:p.Glu213fs	coding	Pathogenic
6	65494791	GAA	G	A65494794T	EYS	NM_001142800.2(EYS):c.618_619del:p.Ser207fs	coding	Pathogenic
6	65494839	C	CT	A65494841T	EYS	NM_001142800.2(EYS):c.571dup:p.Ser191fs	coding	Pathogenic
6	65494877	C	CA	G65494879A	EYS	NM_001142800.2(EYS):c.533dup:p.Ser179fs	coding	Pathogenic
6	65494911	ACATTTAGT	A	A65494913G	EYS	NM_001142800.2(EYS):c.492_499del:p.Leu165fs	coding	Pathogenic
6	65494956	A	AT	A65494958T	EYS	NM_001142800.2(EYS):c.454dup:p.Met152fs	coding	Pathogenic
6	65495006	AGT	A	T65495010C	EYS	NM_001142800.2(EYS):c.403_404del:p.Thr135fs	coding	Pathogenic
6	65495194	CT	C	T65495196G	EYS	NM_001142800.2(EYS):c.216del:p.Ala73fs	coding	Pathogenic/Likely_pathogenic
6	65495305	GT	G	T65495307G	EYS	NM_001142800.2(EYS):c.105del:p.Gln35fs	coding	Pathogenic
6	65495331	T	TGC	C65495334G	EYS	NM_001142800.2(EYS):c.78_79dup:p.Gln27fs	coding	Pathogenic
6	69700747	AC	A	C69700748T	LMBRD1	NM_018368.4(LMBRD1):c.1188+17del	noncoding	Benign/Likely_benign
6	69700857	CAA	C	A69700858G	LMBRD1	NM_018368.4(LMBRD1):c.1094_1095del:p.Leu365fs	coding	Pathogenic
6	69701898	AAGAG	A	G69701902A	LMBRD1	NM_018368.4(LMBRD1):c.967_970del:p.Leu323fs	coding	Pathogenic
6	69752264	AT	A	T69752267A	LMBRD1	NM_018368.4(LMBRD1):c.399del:p.Lys133fs	coding	Pathogenic
6	69929155	TAC	T	A69929180T	COL19A1	NM_001858.6(COL19A1):c.391-269AC[12]	noncoding	Benign
6	69929155	T	TACACACACAC	T69929182A	COL19A1	NM_001858.6(COL19A1):c.391-269AC[18]	noncoding	Benign
6	70165682	A	AT	C70165684T	COL19A1	NM_001858.6(COL19A1):c.2401-258dup	noncoding	Benign
6	70184520	CAG	C	A70184521T	COL19A1	NM_001858.6(COL19A1):c.2776-182_2776-181del	noncoding	Benign
6	70206634	CAA	C	A70206654G	COL19A1	NM_001858.6(COL19A1):c.3224-247_3224-246del	noncoding	Benign
6	70206634	C	CA	G70206656A	COL19A1	NM_001858.6(COL19A1):c.3224-246dup	noncoding	Benign
6	70207364	CTT	C	T70207386G	COL19A1	NM_001858.6(COL19A1):c.*112_*113del	noncoding	Benign
6	70216654	C	CTT	A70216668T	COL9A1	NM_001851.6(COL9A1):c.*241_*242dup	noncoding	Benign
6	70217018	AC	A	C70217022T	COL9A1	NM_001851.6(COL9A1):c.2644del:p.Val882fs	coding	Pathogenic
6	70234235	A	AGT	C70234259T	COL9A1	NM_001851.6(COL9A1):c.2314+282AC[12]	noncoding	Benign
6	70234235	AGT	A	T70234257C	COL9A1	NM_001851.6(COL9A1):c.2314+282AC[10]	noncoding	Benign
6	70234299	C	CAAAAA	C70234304A	COL9A1	NM_001851.6(COL9A1):c.2314+239_2314+240insTTTTT	noncoding	Benign
6	70234304	C	CAAAA	G70234313A	COL9A1	NM_001851.6(COL9A1):c.2314+227_2314+230dup	noncoding	Benign
6	70234305	A	AAAAC	A70234309C	COL9A1	NM_001851.6(COL9A1):c.2314+233_2314+234insTTTG	noncoding	Benign
6	70234889	GC	G	C70234894G	COL9A1	NM_001851.6(COL9A1):c.2163del:p.Leu722fs	coding	Pathogenic
6	70239138	CA	C	A70239149G	COL9A1	NM_001851.6(COL9A1):c.2112+115del	noncoding	Benign
6	70239138	C	CA	G70239150A	COL9A1	NM_001851.6(COL9A1):c.2112+105dup	noncoding	Benign
6	70240578	A	AATAT	C70240596T	COL9A1	NM_001851.6(COL9A1):c.2079+95AT[10]	noncoding	Benign
6	70240578	AAT	A	T70240594C	COL9A1	NM_001851.6(COL9A1):c.2079+95AT[7]	noncoding	Benign
6	70240594	T	TATATAC	C70240596T	COL9A1	NM_001851.6(COL9A1):c.2079+94_2079+95insTGTATA	noncoding	Benign
6	70240618	G	GTA	C70240631T	COL9A1	NM_001851.6(COL9A1):c.2079+59TA[7]	noncoding	Benign
6	70240672	GA	G	A70240682T	COL9A1	NM_001851.6(COL9A1):c.2079+16del	noncoding	Benign
6	70240672	G	GA	T70240683A	COL9A1	NM_001851.6(COL9A1):c.2079+7dup	noncoding	Benign
6	70240893	GT	G	T70240895A	COL9A1	NM_001851.6(COL9A1):c.2035-161del	noncoding	Benign
6	70242028	AG	A	G70242029A	COL9A1	NM_001851.6(COL9A1):c.1933del:p.Leu645fs	coding	Pathogenic
6	70242710	AC	A	C70242711T	COL9A1	NM_001851.6(COL9A1):c.1877del:p.Ser626fs	coding	Pathogenic
6	70252251	T	TGGTG	T70252256G	COL9A1	NM_001851.6(COL9A1):c.1818+7_1818+10dup	noncoding	Benign
6	70252262	CG	C	G70252264T	COL9A1	NM_001851.6(COL9A1):c.1817del:p.Pro606fs	coding	Pathogenic
6	70254523	G	GTTCA	C70254528T	COL9A1	NM_001851.6(COL9A1):c.1668_1671dup:p.Pro558Ter	coding	Pathogenic
6	70255199	G	GC	T70255205C	COL9A1	NC_000006.11:g.70964902_70964903insC	coding	Pathogenic
6	70256718	CA	C	A70256731T	COL9A1	NM_001851.6(COL9A1):c.1503+49del	noncoding	Benign
6	70256718	C	CA	T70256732A	COL9A1	NM_001851.6(COL9A1):c.1503+37dup	noncoding	Benign
6	70256825	C	CA	C70256833A	COL9A1	NM_001851.6(COL9A1):c.1450-5dup	noncoding	Benign
6	70260548	CA	C	A70260566G	COL9A1	NM_001851.6(COL9A1):c.1449+108del	noncoding	Benign
6	70260548	C	CA	G70260567A	COL9A1	NM_001851.6(COL9A1):c.1449+91dup	noncoding	Benign
6	70263223	AT	A	T70263229A	COL9A1	NM_001851.6(COL9A1):c.1395+20del	noncoding	Benign
6	70263303	G	GA	G70263312A	COL9A1	NM_001851.6(COL9A1):c.1342-14dup	noncoding	Benign
6	70263314	A	AAAAAG	C70263325A	COL9A1	NM_001851.6(COL9A1):c.1342-27CTTTT[3]	noncoding	Benign/Likely_benign
6	70270332	A	AG	C70270339G	COL9A1	NM_001851.6(COL9A1):c.1178dup:p.Gly394fs	coding	Pathogenic
6	70270332	AG	A	G70270338C	COL9A1	NM_001851.6(COL9A1):c.1178del:p.Pro393fs	coding	Pathogenic
6	70272325	CT	C	T70272336A	COL9A1	NM_001851.6(COL9A1):c.1066-238del	noncoding	Benign
6	70273941	TAATA	T	T70273972A	COL9A1	NM_001851.6(COL9A1):c.1065+74TATT[7]	noncoding	Benign
6	70273941	T	TAATA	A70273976T	COL9A1	NM_001851.6(COL9A1):c.1065+74TATT[9]	noncoding	Benign
6	70273941	T	TAATAAATA	A70273976T	COL9A1	NM_001851.6(COL9A1):c.1065+74TATT[10]	noncoding	Benign
6	70280732	T	TC	A70280741C	COL9A1	NM_001851.6(COL9A1):c.975+72dup	noncoding	Benign
6	70281013	C	CG	C70281020G	COL9A1	NM_001851.6(COL9A1):c.902dup:p.Pro306fs	coding	Pathogenic
6	70281300	GA	G	A70281313C	COL9A1	NM_001851.6(COL9A1):c.876+89del	noncoding	Benign
6	70281300	G	GAA	C70281314A	COL9A1	NM_001851.6(COL9A1):c.876+77_876+78dup	noncoding	Benign
6	70281300	G	GA	C70281314A	COL9A1	NM_001851.6(COL9A1):c.876+77dup	noncoding	Benign
6	70281417	A	AG	C70281424G	COL9A1	NM_001851.6(COL9A1):c.848dup:p.Gly284fs	coding	Pathogenic
6	70294459	TC	T	C70294461T	COL9A1	NM_001851.6(COL9A1):c.403del:p.Asp135fs	coding	Pathogenic
6	70294629	TC	T	C70294632T	COL9A1	NM_001851.6(COL9A1):c.300-67del	noncoding	Benign
6	70300153	GA	G	A70300155C	COL9A1	NM_001851.6(COL9A1):c.188del:p.Phe63fs	coding	Pathogenic
6	70300248	T	TA	T70300260A	COL9A1	NM_001851.6(COL9A1):c.166+50dup	noncoding	Benign
6	70302204	C	CT	G70302228T	COL9A1	NM_001851.6(COL9A1):c.15-153dup	noncoding	Benign
6	70302204	CTT	C	T70302226G	COL9A1	NM_001851.6(COL9A1):c.15-132_15-131del	noncoding	Benign
6	70302204	CTTTTTTTTT	C	T70302219G	COL9A1	NM_001851.6(COL9A1):c.15-139_15-131del	noncoding	Benign
6	70302915	A	AG	T70302918G	COL9A1	NM_001851.6(COL9A1):c.9dup:p.Cys4fs	coding	Pathogenic/Likely_pathogenic
6	72242296	C	CT	A72242305T	RIMS1	NM_014989.7(RIMS1):c.1958-10dup	noncoding	Benign
6	72250477	GA	G	A72250487T	RIMS1	NM_014989.7(RIMS1):c.2372+27del	noncoding	Benign
6	72250477	G	GA	T72250488A	RIMS1	NM_014989.7(RIMS1):c.2372+27dup	noncoding	Benign
6	72265583	TCTC	T	C72265587T	RIMS1	NM_014989.7(RIMS1):c.3308+84_3308+86del	noncoding	Benign
6	72392820	ATT	A	T72392829C	RIMS1	NM_014989.7(RIMS1):c.4618+19_4618+20del	noncoding	Benign
6	72399170	AAG	A	G72399174A	RIMS1	NM_014989.7(RIMS1):c.4860+80_4860+81del	noncoding	Benign
6	73077788	A	AT	G73077794T	KCNQ5	NM_019842.4(KCNQ5):c.824dup:p.Leu275fs	coding	Pathogenic
6	73461534	AAAATAAATAAATAAATAAATAAATAAATAAATAAAT	A	T73461562A	MTO1	Single_allele	noncoding	Benign
6	73461534	AAAATAAATAAATAAATAAATAAATAAATAAAT	A	T73461566A	MTO1	Single_allele	noncoding	Benign
6	73461534	AAAATAAATAAATAAATAAATAAAT	A	T73461574A	MTO1	Single_allele	noncoding	Benign
6	73462348	C	CTT	C73462349T	MTO1	NM_012123.4(MTO1):c.217+277_217+278insTT	noncoding	Benign
6	73462350	A	AAG	C73462352G	MTO1	NM_012123.4(MTO1):c.217+280_217+281insGA	noncoding	Benign
6	73466390	CTA	C	T73466393A	MTO1	NM_012123.4(MTO1):c.402_403del:p.Tyr134_Lys135delinsTer	coding	Pathogenic
6	73466496	TCTTGAATACACCACTG	T	G73466500A	MTO1	NM_012123.4(MTO1):c.429_444del:p.Asn144fs	coding	Pathogenic
6	73473277	CAGAT	C	G73473299C	MTO1	NM_012123.4(MTO1):c.536-87AGAT[5]	noncoding	Benign
6	73473277	C	CAGAT	C73473303G	MTO1	NM_012123.4(MTO1):c.536-87AGAT[7]	noncoding	Benign
6	73473561	CAA	C	A73473563G	MTO1	NM_012123.4(MTO1):c.734_735del:p.Lys245fs	coding	Pathogenic/Likely_pathogenic
6	73473721	C	CT	G73473739T	MTO1	NM_012123.4(MTO1):c.825+84dup	noncoding	Benign
6	73479961	GTT	G	T73479964G	MTO1	NM_012123.4(MTO1):c.967_968del:p.Leu323fs	coding	Pathogenic
6	73480789	AG	A	G73480791A	MTO1	NM_012123.4(MTO1):c.1246del:p.Glu416fs	coding	Pathogenic
6	73492103	CAA	C	A73492117G	MTO1	NM_012123.4(MTO1):c.1638-117_1638-116del	noncoding	Benign
6	73492103	CA	C	A73492118G	MTO1	NM_012123.4(MTO1):c.1638-116del	noncoding	Benign
6	73492287	CT	C	T73492288G	MTO1	NM_012123.4(MTO1):c.1692del:p.Val565fs	coding	Pathogenic
6	73492342	G	GA	T73492347A	MTO1	NM_012123.4(MTO1):c.1750dup:p.Ile584fs	coding	Pathogenic
6	73497910	CAGG	C	G73497913A	MTO1	NM_012123.4(MTO1):c.1917+17_1917+19del	noncoding	Benign
6	73595228	CA	C	A73595234T	SLC17A5	NM_012434.5(SLC17A5):c.1351-15del	noncoding	Benign
6	73610435	AG	A	G73610436A	SLC17A5	NM_012434.5(SLC17A5):c.1223del:p.Ser408fs	coding	Pathogenic/Likely_pathogenic
6	73610537	TC	T	C73610539A	SLC17A5	NM_012434.5(SLC17A5):c.1121del:p.Gly374fs	coding	Pathogenic/Likely_pathogenic
6	73610691	GA	G	A73610701T	SLC17A5	NM_012434.5(SLC17A5):c.1112-145del	noncoding	Benign
6	73610691	G	GA	T73610702A	SLC17A5	NM_012434.5(SLC17A5):c.1112-154dup	noncoding	Benign
6	73615427	CA	C	A73615429T	SLC17A5	NM_012434.5(SLC17A5):c.998del:p.Leu333fs	coding	Pathogenic
6	73621679	CT	C	T73621680A	SLC17A5	NM_012434.5(SLC17A5):c.978+124del	noncoding	Benign
6	73621792	A	AT	C73621799T	SLC17A5	NM_012434.5(SLC17A5):c.978+11dup	noncoding	Benign
6	73621805	TCTTGAACATTGAA	T	T73621807C	SLC17A5	NM_012434.5(SLC17A5):c.964_976del:p.Phe322fs	coding	Pathogenic
6	73621918	G	GGATT	T73621923G	SLC17A5	NM_012434.5(SLC17A5):c.860_863dup:p.Leu289fs	coding	Pathogenic
6	73635405	T	TAA	G73635406A	SLC17A5	NM_012434.5(SLC17A5):c.795_796insTT:p.Ile266fs	coding	Pathogenic
6	73635453	CACTA	C	T73635460C	SLC17A5	NM_012434.5(SLC17A5):c.744_747del:p.Ser249fs	coding	Pathogenic
6	73635742	C	CT	G73635759T	SLC17A5	NM_012434.5(SLC17A5):c.701-258dup	noncoding	Benign
6	73635742	CT	C	T73635758G	SLC17A5	NM_012434.5(SLC17A5):c.701-243del	noncoding	Benign
6	73636367	A	AT	G73636374T	SLC17A5	NM_012434.5(SLC17A5):c.700+248dup	noncoding	Benign
6	73636621	CA	C	A73636627G	SLC17A5	NM_012434.5(SLC17A5):c.699del:p.Phe233fs	coding	Pathogenic
6	73636653	T	TA	G73636655A	SLC17A5	NM_012434.5(SLC17A5):c.667dup:p.Tyr223fs	coding	Pathogenic/Likely_pathogenic
6	73638445	C	CAAGAGGGGGAGCCCCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGGGGGGGGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A73638460C	SLC17A5	NM_012434.5(SLC17A5):c.579_580insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCCCCCCCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGGCTCCCCCTCTT:p.Leu193_Glu194insPhePhePhePhePhePheXaaXaaXaaXaaProProProProProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAlaGluGlyAlaProProLeu	coding	Pathogenic
6	73641708	GT	G	T73641709G	SLC17A5	NM_012434.5(SLC17A5):c.507del:p.Ala169_Leu170insTer	coding	Pathogenic/Likely_pathogenic
6	73641864	CA	C	A73641865T	SLC17A5	NM_012434.5(SLC17A5):c.351del:p.Phe116_Tyr117insTer	coding	Pathogenic
6	73644540	AC	A	C73644541A	SLC17A5	NM_012434.5(SLC17A5):c.157del:p.Val53fs	coding	Pathogenic
6	73644551	AC	A	C73644553A	SLC17A5	NM_012434.5(SLC17A5):c.146del:p.Gly49fs	coding	Pathogenic
6	73644553	C	CA	G73644560A	SLC17A5	NM_012434.5(SLC17A5):c.144dup:p.Gly49fs	coding	Pathogenic
6	73654059	G	GC	G73654065C	SLC17A5	Single_allele	noncoding	Benign
6	75086648	G	GTA	C75086674A	COL12A1	NM_004370.6(COL12A1):c.9182-115TA[13]	noncoding	Benign
6	75086648	G	GTATA	C75086674A	COL12A1	NM_004370.6(COL12A1):c.9182-115TA[14]	noncoding	Benign
6	75086648	GTA	G	A75086672C	COL12A1	NM_004370.6(COL12A1):c.9182-115TA[11]	noncoding	Benign
6	75087281	GA	G	A75087292G	COL12A1	NM_004370.6(COL12A1):c.9181+295del	noncoding	Benign
6	75091471	A	AT	A75091478T	COL12A1	NM_004370.6(COL12A1):c.8685+18dup	noncoding	Benign
6	75097258	GC	G	C75097261T	COL12A1	NM_004370.6(COL12A1):c.8571del:p.Pro2858fs	coding	Pathogenic
6	75109011	TACTC	T	C75109015G	COL12A1	NM_004370.6(COL12A1):c.8100+3_8100+6del	noncoding	Pathogenic/Likely_pathogenic
6	75121302	CT	C	T75121303G	COL12A1	NM_004370.6(COL12A1):c.7085del:p.Gln2362fs	coding	Pathogenic
6	75123999	CA	C	A75124004C	COL12A1	NM_004370.6(COL12A1):c.6819del:p.Phe2273fs	coding	Pathogenic
6	75124006	AGTGACACCATAATCAGTGTCTGGTGAAAGGCCAGTGAAGCAGTGACTGGTTTCTGATCCACGCACTGTAATTTCTT	A	G75124009C	COL12A1	NM_004370.6(COL12A1):c.6737_6812del:p.Gln2246fs	coding	Pathogenic
6	75148110	G	GA	C75148118A	COL12A1	NM_004370.6(COL12A1):c.4287+241dup	noncoding	Benign
6	75154594	CT	C	T75154603G	COL12A1	NM_004370.6(COL12A1):c.3444-58del	noncoding	Benign
6	75175317	T	TA	T75175324A	COL12A1	NM_004370.6(COL12A1):c.2438-8dup	noncoding	Benign
6	75181216	T	TA	T75181217A	COL12A1	NM_004370.6(COL12A1):c.1892-6_1892-5insT	noncoding	Benign
6	75181217	TA	T	A75181230G	COL12A1	NM_004370.6(COL12A1):c.1892-7del	noncoding	Benign
6	75181217	T	TAA	G75181231A	COL12A1	NM_004370.6(COL12A1):c.1892-19_1892-18dup	noncoding	Benign
6	75181217	T	TA	G75181231A	COL12A1	NM_004370.6(COL12A1):c.1892-19dup	noncoding	Benign
6	75183740	T	TAA	T75183741A	COL12A1	NM_004370.6(COL12A1):c.1289-89_1289-88insTT	noncoding	Benign
6	75183741	TA	T	A75183751C	COL12A1	NM_004370.6(COL12A1):c.1289-90del	noncoding	Benign
6	75183741	T	TAA	C75183752A	COL12A1	NM_004370.6(COL12A1):c.1289-99_1289-98dup	noncoding	Benign
6	75192193	AT	A	T75192197A	COL12A1	NM_004370.6(COL12A1):c.334+18del	noncoding	Benign
6	75202750	CCGCGCCCAGGGCGGCA	C	C75202751A	COL12A1	NM_004370.6(COL12A1):c.27_42del:p.Ala10fs	coding	Pathogenic
6	75817304	C	CAAAA	G75817323A	MYO6	NM_004999.4(MYO6):c.-47-182_-47-179dup	noncoding	Benign
6	75817304	C	CA	G75817323A	MYO6	NM_004999.4(MYO6):c.-47-179dup	noncoding	Benign
6	75822517	CCTT	C	C75822521T	MYO6	NM_004999.4(MYO6):c.118-261_118-259del	noncoding	Benign
6	75840588	AC	A	C75840591A	MYO6	NM_004999.4(MYO6):c.560del:p.Pro187fs	coding	Pathogenic
6	75841122	G	GT	G75841123T	MYO6	NM_004999.4(MYO6):c.652-92_652-91insT	noncoding	Benign
6	75848714	CT	C	T75848715G	MYO6	NM_004999.4(MYO6):c.1078+184del	noncoding	Benign
6	75862615	AGTGGGAATACTGGATATTTTGGATGAAGAAAATCGCCTTCCCCAGCCAAG	A	G75862616T	MYO6	NM_004999.4(MYO6):c.1567_1616del:p.Leu522_Val523insTer	coding	Pathogenic
6	75866275	C	CTG	C75866309G	MYO6	NM_004999.4(MYO6):c.1675-250TG[17]	noncoding	Benign
6	75866275	C	CTGTG	C75866309G	MYO6	NM_004999.4(MYO6):c.1675-250TG[18]	noncoding	Benign
6	75866275	C	CTGTGTG	C75866309G	MYO6	NM_004999.4(MYO6):c.1675-250TG[19]	noncoding	Benign
6	75866275	C	CTGTGTGTG	C75866309G	MYO6	NM_004999.4(MYO6):c.1675-250TG[20]	noncoding	Benign
6	75866278	T	TGTGTGTGTGG	T75866288G	MYO6	NM_004999.4(MYO6):c.1675-239_1675-238insGGTGTGTGTG	noncoding	Benign
6	75866280	T	TGTGTGTGG	T75866288G	MYO6	NM_004999.4(MYO6):c.1675-239_1675-238insGGTGTGTG	noncoding	Benign
6	75867122	A	AT	A75867133T	MYO6	NM_004999.4(MYO6):c.1944+27dup	noncoding	Benign
6	75881423	TC	T	C75881434A	MYO6	NM_004999.4(MYO6):c.2287-255del	noncoding	Benign
6	75886903	TAGTC	T	C75886907G	MYO6	NM_004999.4(MYO6):c.2571_2574del:p.Ser858fs	coding	Pathogenic
6	75889927	AAAC	A	C75889930T	MYO6	NM_004999.4(MYO6):c.2659-127_2659-125del	noncoding	Benign
6	75907683	A	ACG	T75907686C	MYO6	NM_004999.4(MYO6):c.3256_3257dup:p.Asp1087fs	coding	Pathogenic
6	75907794	A	ATGTG	A75907818G	MYO6	NM_004999.4(MYO6):c.3280+87TG[13]	noncoding	Benign
6	75907794	A	ATGTGTGTG	A75907818G	MYO6	NM_004999.4(MYO6):c.3280+87TG[15]	noncoding	Benign
6	75907794	A	ATGTGTGTGTG	A75907818G	MYO6	NM_004999.4(MYO6):c.3280+87TG[16]	noncoding	Benign
6	75919434	CAATT	C	A75919439T	MYO6	NM_004999.4(MYO6):c.*4423AATT[1]	noncoding	Benign/Likely_benign
6	75923627	A	AT	A75923632T	IMPG1	NM_001563.4(IMPG1):c.2316+3dup	noncoding	Benign
6	76018866	T	TA	G76018881A	IMPG1	NM_001563.4(IMPG1):c.667-22dup	noncoding	Benign
6	76042042	A	AT	C76042049T	IMPG1	NM_001563.4(IMPG1):c.151dup:p.Met51fs	coding	Pathogenic
6	78940496	TTA	T	A78940514T	PHIP	NM_017934.7(PHIP):c.*179TA[8]	noncoding	Benign
6	78940496	TTATA	T	A78940512T	PHIP	NM_017934.7(PHIP):c.*179TA[7]	noncoding	Benign
6	78945082	CT	C	T78945096C	PHIP	NM_017934.7(PHIP):c.4828+217del	noncoding	Benign
6	78946883	GA	G	A78946893G	PHIP	NM_017934.7(PHIP):c.4207-10del	noncoding	Benign
6	78947654	G	GAATTACTGAAAATAATTACTGAAAAT	G78947670T	PHIP	NM_017934.7(PHIP):c.4174_4175insATTTTCAGTAATTATTTTCAGTAATT:p.Ser1392delinsTyrPheGlnTer	coding	Pathogenic
6	78947951	T	TC	T78947960C	PHIP	NM_017934.7(PHIP):c.4054-184dup	noncoding	Benign
6	78955481	GT	G	T78955493A	PHIP	NM_017934.7(PHIP):c.3852+131del	noncoding	Benign
6	78955659	ATTATG	A	G78955664A	PHIP	NM_017934.7(PHIP):c.3801_3805del:p.Ile1268fs	coding	Pathogenic
6	78982951	C	CT	C78982958T	PHIP	NM_017934.7(PHIP):c.2703dup:p.Val902fs	coding	Pathogenic
6	78985286	T	TA	C78985298A	PHIP	NM_017934.7(PHIP):c.2537+55dup	noncoding	Benign
6	78990866	AC	A	C78990868T	PHIP	NM_017934.7(PHIP):c.2319+1del	noncoding	Pathogenic
6	79003716	TCATCATACTCTACCTTGTCATATTTGCTACTGGACCCAA	T	C79003717A	PHIP	NM_017934.7(PHIP):c.1628_1653+13del	noncoding	Pathogenic
6	79017527	C	CA	T79017535A	PHIP	NM_017934.7(PHIP):c.1050dup:p.Gly351fs	coding	Pathogenic
6	79025306	G	GA	T79025315A	PHIP	NM_017934.7(PHIP):c.923+205dup	noncoding	Benign
6	79026059	CAT	C	T79026061G	PHIP	NM_017934.7(PHIP):c.704_705del:p.Asn234_Tyr235insTer	coding	Pathogenic
6	79026467	TA	T	A79026480T	PHIP	NM_017934.7(PHIP):c.601-304del	noncoding	Benign
6	79487636	CAG	C	A79487637G	LCA5	NM_001122769.3(LCA5):c.1460_1461del:p.Pro487fs	coding	Pathogenic/Likely_pathogenic
6	79487729	C	CT	C79487731T	LCA5	NM_001122769.3(LCA5):c.1368dup:p.Glu457fs	coding	Pathogenic
6	79487771	G	GT	G79487774T	LCA5	NM_001122769.3(LCA5):c.1326dup:p.Leu443fs	coding	Pathogenic
6	79487785	GT	G	T79487788C	LCA5	NM_001122769.3(LCA5):c.1312del:p.Thr438fs	coding	Pathogenic
6	79487816	G	GT	A79487818T	LCA5	NM_001122769.3(LCA5):c.1281dup:p.Leu428fs	coding	Pathogenic
6	79487824	GC	G	C79487826T	LCA5	NM_001122769.3(LCA5):c.1273del:p.Ala425fs	coding	Pathogenic
6	79489124	TTCTT	GTTGTCGTAA	T79489124G	LCA5	NM_001122769.3(LCA5):c.1187_1191delinsTTACGACAAC:p.Glu396fs	coding	Pathogenic
6	79489228	TA	T	A79489236T	LCA5	NM_001122769.3(LCA5):c.1099-13del	noncoding	Benign
6	79489228	T	TA	T79489237A	LCA5	NM_001122769.3(LCA5):c.1099-13dup	noncoding	Benign
6	79492552	A	AT	C79492559T	LCA5	NM_001122769.3(LCA5):c.953dup:p.Asn318fs	coding	Pathogenic
6	79492619	T	TA	T79492620A	LCA5	NM_001122769.3(LCA5):c.886_887insT:p.Asn296fs	coding	Pathogenic
6	79513218	TC	T	C79513219T	LCA5	NM_001122769.3(LCA5):c.713del:p.Arg238fs	coding	Pathogenic
6	79513690	ACT	A	T79513692G	LCA5	NM_001122769.3(LCA5):c.240_241del:p.Val81fs	coding	Pathogenic
6	79513743	TA	T	A79513749G	LCA5	NM_001122769.3(LCA5):c.191-3del	noncoding	Benign
6	79518728	GA	G	A79518730G	LCA5	NM_001122769.3(LCA5):c.166del:p.Ser56fs	coding	Pathogenic
6	79518827	T	TAAGAATAATGGTGTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T79518843A	LCA5	NM_001122769.3(LCA5):c.67_68insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAACACCATTATTCTT:p.Tyr23delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
6	79518857	TC	T	C79518858T	LCA5	NM_001122769.3(LCA5):c.37del:p.Glu13fs	coding	Pathogenic
6	79916763	TA	T	A79916765G	ELOVL4	NM_022726.4(ELOVL4):c.789del:p.Asn264fs	coding	Pathogenic
6	79917131	AT	A	T79917139A	ELOVL4	NM_022726.4(ELOVL4):c.670-249del	noncoding	Benign
6	79919110	A	ACATAAAT	T79919112A	ELOVL4	NM_022726.4(ELOVL4):c.669+309_669+310insGATTTAT	noncoding	Benign
6	79921729	A	AT	A79921731T	ELOVL4	NM_022726.4(ELOVL4):c.436dup:p.Ile146fs	coding	Pathogenic
6	79921730	T	TA	C79921737A	ELOVL4	NM_022726.4(ELOVL4):c.435dup:p.Ile146fs	coding	Pathogenic
6	79921961	TG	T	G79921965A	ELOVL4	NM_022726.4(ELOVL4):c.370-166del	noncoding	Benign
6	79925036	G	GA	G79925042A	ELOVL4	NM_022726.4(ELOVL4):c.289-9dup	noncoding	Benign
6	80106713	C	CT	G80106715T	BCKDHB	NM_183050.4(BCKDHB):c.21dup:p.Ala8fs	coding	Pathogenic
6	80106717	C	CGGCTGGCTACT	C80106729G	BCKDHB	NM_183050.4(BCKDHB):c.25_35dup:p.Arg13fs	coding	Pathogenic
6	80106785	TG	T	G80106787C	BCKDHB	NM_183050.4(BCKDHB):c.94del:p.Ala32fs	coding	Pathogenic
6	80127525	A	AT	G80127536T	BCKDHB	NM_183050.4(BCKDHB):c.197-12dup	noncoding	Benign
6	80127579	GTAACAAGTGCCTTGGA	G	A80127584T	BCKDHB	NM_183050.4(BCKDHB):c.234_249del:p.Ser79fs	coding	Pathogenic
6	80127621	GC	G	C80127622A	BCKDHB	NM_183050.4(BCKDHB):c.272del:p.Ala91fs	coding	Pathogenic
6	80128872	C	CTG	G80128909T	BCKDHB	NM_183050.4(BCKDHB):c.275-288TG[19]	noncoding	Benign
6	80128872	CTG	C	T80128907G	BCKDHB	NM_183050.4(BCKDHB):c.275-288TG[17]	noncoding	Benign
6	80128872	CTGTG	C	T80128905G	BCKDHB	NM_183050.4(BCKDHB):c.275-288TG[16]	noncoding	Benign
6	80128872	CTGTGTG	C	T80128903G	BCKDHB	NM_183050.4(BCKDHB):c.275-288TG[15]	noncoding	Benign
6	80129164	TATTTGGTGAAG	T	T80129167G	BCKDHB	NM_183050.4(BCKDHB):c.281_291del:p.Phe94fs	coding	Pathogenic/Likely_pathogenic
6	80129207	T	TG	T80129209G	BCKDHB	NM_183050.4(BCKDHB):c.322dup:p.Val108fs	coding	Pathogenic
6	80167698	AC	A	C80167702A	BCKDHB	NM_183050.4(BCKDHB):c.368del:p.Pro123fs	coding	Pathogenic/Likely_pathogenic
6	80167727	AT	A	T80167730G	BCKDHB	NM_183050.4(BCKDHB):c.396del:p.Phe132fs	coding	Pathogenic
6	80168917	C	CT	A80168923T	BCKDHB	NM_183050.4(BCKDHB):c.525dup:p.Asn176Ter	coding	Pathogenic
6	80171272	GT	G	T80171277G	BCKDHB	NM_183050.4(BCKDHB):c.634-5del	noncoding	Benign
6	80171375	CT	C	T80171378A	BCKDHB	NM_183050.4(BCKDHB):c.730del:p.Tyr244fs	coding	Pathogenic/Likely_pathogenic
6	80200905	CT	C	T80200917C	BCKDHB	NM_183050.4(BCKDHB):c.743-17del	noncoding	Benign
6	80343652	CTCTG	C	T80343657C	BCKDHB	NM_183050.4(BCKDHB):c.1039-7_1039-4del	noncoding	Pathogenic
6	81749628	CT	C	T81749642C	TENT5A	NM_017633.3(TENT5A):c.*66del	noncoding	Benign
6	81752010	A	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	T81752073G	TENT5A	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[7]:p.26DFGGG[7]	coding	Benign
6	81752010	A	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	T81752073G	TENT5A	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[6]:p.26DFGGG[6]	coding	Benign/Likely_benign
6	81752010	A	ACCGCCGAAGTCGCCG	T81752073G	TENT5A	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5]:p.26DFGGG[5]	coding	Benign/Likely_benign
6	81752010	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	A	G81752043T	TENT5A	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[2]:p.26DFGGG[2]	coding	Benign
6	81752209	GACGCGCGGCGGCGGAGAGC	G	C81752230G	TENT5A	NM_017633.3(TENT5A):c.-37-50_-37-32del	noncoding	Benign
6	83170741	C	CTT	A83170743T	PGM3	NM_015599.3(PGM3):c.1366-264_1366-263insAA	noncoding	Benign
6	83171673	T	TAG	C83171677G	PGM3	NM_015599.3(PGM3):c.1365+262_1365+263dup	noncoding	Benign
6	83171968	G	GTATA	G83171973T	PGM3	NM_015599.3(PGM3):c.1330_1333dup:p.Thr445fs	coding	Pathogenic
6	83178762	CA	C	A83178767C	PGM3	NM_015599.3(PGM3):c.946-7del	noncoding	Benign
6	83181745	GTTTCTGATGAC	G	C83181749T	PGM3	NM_015599.3(PGM3):c.767_777del:p.Ser256fs	coding	Pathogenic
6	83186791	TCTC	T	C83186794A	PGM3	NM_015599.3(PGM3):c.457+214_457+216del	noncoding	Benign
6	83187043	A	AT	A83187046T	PGM3	NM_015599.3(PGM3):c.421dup:p.Ile141fs	coding	Pathogenic
6	83188581	GT	G	T83188592A	PGM3	NM_015599.3(PGM3):c.389+32del	noncoding	Benign
6	83188624	T	TA	C83188626A	PGM3	NM_015599.3(PGM3):c.378dup:p.Arg127Ter	coding	Pathogenic
6	83191251	TC	T	C83191255A	PGM3	NM_015599.3(PGM3):c.-2-238del	coding	Pathogenic
6	83193914	T	TG	C83193924G	PGM3	NM_033411.5(RWDD2A):c.-140-389dup	noncoding	Benign
6	84744185	T	TA	C84744187A	TBX18	NM_001080508.3(TBX18):c.1004+75dup	noncoding	Benign
6	84747663	T	TATC	A84747666C	TBX18	NM_001080508.3(TBX18):c.939+256_939+257insATG	noncoding	Benign
6	84756776	C	CA	G84756777A	TBX18	NM_001080508.3(TBX18):c.692_693insT:p.Glu233fs	coding	Pathogenic
6	85508320	T	TA	T85508341A	SNX14	NM_153816.6(SNX14):c.2654-281dup	noncoding	Benign
6	85536998	T	TA	G85537007A	SNX14	NM_153816.6(SNX14):c.1476-82dup	noncoding	Benign
6	85546965	C	CA	G85546985A	SNX14	NM_153816.6(SNX14):c.1108+128dup	noncoding	Benign
6	85567351	CA	C	A85567352G	SNX14	NM_153816.6(SNX14):c.461+182del	noncoding	Benign
6	85572560	A	AAAATACC	C85572569A	SNX14	NM_153816.6(SNX14):c.262-193_262-187dup	noncoding	Benign
6	85574059	TATA	T	T85574067A	SNX14	NM_153816.6(SNX14):c.261+190TAT[2]	noncoding	Benign
6	85574110	T	TA	C85574119A	SNX14	NM_153816.6(SNX14):c.261+140dup	noncoding	Benign
6	85574119	C	CAA	G85574132A	SNX14	NM_153816.6(SNX14):c.261+127_261+128dup	noncoding	Benign
6	85574119	C	CA	G85574132A	SNX14	NM_153816.6(SNX14):c.261+127dup	noncoding	Benign
6	85574131	AGAG	A	G85574132A	SNX14	NM_153816.6(SNX14):c.261+124_261+126del	noncoding	Benign
6	85574383	AAAAT	A	A85574388G	SNX14	NM_153816.6(SNX14):c.141-9_141-6del	noncoding	Benign
6	87245488	CT	C	T87245499A	ZNF292	NM_015021.3(ZNF292):c.879-4del	noncoding	Benign
6	87255919	T	TA	C87255921A	ZNF292	NM_015021.3(ZNF292):c.2291dup:p.Tyr764Ter	coding	Pathogenic
6	87256117	G	GATCAC	G87256124T	ZNF292	NM_015021.3(ZNF292):c.2490_2494dup:p.Ser832fs	coding	Pathogenic/Likely_pathogenic
6	87257238	GT	G	T87257240G	ZNF292	NM_015021.3(ZNF292):c.3611del:p.Leu1204fs	coding	Pathogenic
6	87258045	A	AT	C87258047T	ZNF292	NM_015021.3(ZNF292):c.4417dup:p.Ser1473fs	coding	Pathogenic/Likely_pathogenic
6	87258466	CAG	C	G87258468A	ZNF292	NM_015021.3(ZNF292):c.4839_4840del:p.Asn1614fs	coding	Pathogenic
6	87259380	TGCACTATTTAA	T	T87259388G	ZNF292	NM_015021.3(ZNF292):c.5759_5769del:p.Phe1920fs	coding	Pathogenic
6	87259765	G	GA	G87259775A	ZNF292	NM_015021.3(ZNF292):c.6145dup:p.Ser2049fs	coding	Pathogenic
6	87259787	CAG	C	G87259789A	ZNF292	NM_015021.3(ZNF292):c.6160_6161del:p.Glu2054fs	coding	Pathogenic/Likely_pathogenic
6	87259893	AAAGG	A	A87259895G	ZNF292	NM_015021.3(ZNF292):c.6266_6269del:p.Lys2089fs	coding	Pathogenic
6	87259902	G	GA	C87259909A	ZNF292	NM_015021.3(ZNF292):c.6279dup:p.Arg2094fs	coding	Pathogenic
6	87434981	C	CA	T87434990A	CFAP206	NM_001031743.3(CFAP206):c.1430dup:p.Asn477fs	coding	Pathogenic
6	87477166	G	GGTGT	C87477192T	SLC35A1	NM_006416.5(SLC35A1):c.17-195GT[14]	noncoding	Benign
6	87477166	G	GGTGTGTGT	C87477192T	SLC35A1	NM_006416.5(SLC35A1):c.17-195GT[16]	noncoding	Benign
6	87500749	AT	A	T87500765G	SLC35A1	NM_006416.5(SLC35A1):c.354+98del	noncoding	Benign
6	87508703	GTAAA	G	A87508706C	SLC35A1	NM_006416.5(SLC35A1):c.751+110_751+113del	noncoding	Benign
6	87508882	C	CCACT	A87508885C	SLC35A1	NM_006416.5(SLC35A1):c.752-157_752-156insCTCA	noncoding	Benign
6	87511379	A	AT	C87511391T	SLC35A1	NM_006416.5(SLC35A1):c.887-9dup	noncoding	Benign
6	87511379	AT	A	T87511390C	SLC35A1	NM_006416.5(SLC35A1):c.887-9del	noncoding	Benign
6	87514311	CA	C	A87514329T	RARS2	NM_020320.5(RARS2):c.*101del	noncoding	Benign
6	87514311	C	CA	T87514330A	RARS2	NM_020320.5(RARS2):c.*101dup	noncoding	Benign
6	87516821	TA	T	A87516823C	RARS2	NM_020320.5(RARS2):c.1570del:p.Tyr524fs	coding	Pathogenic
6	87516837	TG	T	G87516840T	RARS2	NM_020320.5(RARS2):c.1554del:p.Arg519fs	coding	Pathogenic
6	87518668	T	TG	T87518670G	RARS2	NM_020320.5(RARS2):c.1376dup:p.Gly460fs	coding	Pathogenic
6	87518679	GACTCTGGAAAACACGATCCCAGCTGA	G	C87518683T	RARS2	NM_020320.5(RARS2):c.1340_1365del:p.Phe447fs	coding	Pathogenic/Likely_pathogenic
6	87519139	ATT	A	T87519142A	RARS2	NM_020320.5(RARS2):c.1238-250_1238-249del	noncoding	Benign
6	87519148	ATATAT	A	T87519149A	RARS2	NM_020320.5(RARS2):c.1238-262_1238-258del	noncoding	Benign
6	87519164	G	GTA	A87519177T	RARS2	NM_020320.5(RARS2):c.1238-285TA[7]	noncoding	Benign
6	87521502	GA	G	A87521503T	RARS2	NM_020320.5(RARS2):c.996del:p.Arg333fs	coding	Pathogenic
6	87524590	A	AT	A87524593T	RARS2	NM_020320.5(RARS2):c.940dup:p.Met314fs	coding	Pathogenic
6	87524602	A	AT	G87524605T	RARS2	NM_020320.5(RARS2):c.928dup:p.Ile310fs	coding	Pathogenic
6	87529898	TA	T	A87529913T	RARS2	NM_020320.5(RARS2):c.772-251del	noncoding	Benign
6	87530855	C	CGATGT	C87530857A	RARS2	NM_020320.5(RARS2):c.699_700insACATC:p.Asp234fs	coding	Pathogenic
6	87545485	GA	G	A87545500T	RARS2	NM_020320.5(RARS2):c.535+130del	noncoding	Benign
6	87548604	AC	A	C87548605G	RARS2	NM_020320.5(RARS2):c.437del:p.Arg146fs	coding	Pathogenic
6	87548650	C	CA	T87548659A	RARS2	NM_020320.5(RARS2):c.396-12dup	noncoding	Benign
6	87562700	AC	A	C87562702T	RARS2	NM_020320.5(RARS2):c.297+1del	noncoding	Pathogenic
6	87562713	GCTCT	G	C87562716G	RARS2	NM_020320.5(RARS2):c.282_285del:p.Arg94fs	coding	Pathogenic
6	87562713	GCT	G	C87562718G	RARS2	NM_020320.5(RARS2):c.284_285del:p.Glu95fs	coding	Pathogenic
6	87562718	CTGTT	C	G87562720A	RARS2	NM_020320.5(RARS2):c.277_280del:p.Asn93fs	coding	Pathogenic
6	87562736	A	ACAGT	C87562742A	RARS2	NM_020320.5(RARS2):c.259_262dup:p.Val88fs	coding	Pathogenic
6	87562772	G	GATTTCACT	T87562773A	RARS2	NM_020320.5(RARS2):c.226_227insAGTGAAAT:p.Thr76delinsLysTer	coding	Pathogenic
6	87569558	GT	G	T87569562C	RARS2	NM_020320.5(RARS2):c.68del:p.Asn23fs	coding	Pathogenic
6	90546958	CA	C	A90546960T	MAP3K7	NM_145331.3(MAP3K7):c.1210+299del	noncoding	Benign
6	90551863	GA	G	A90551865C	MAP3K7	NM_145331.3(MAP3K7):c.867+185del	noncoding	Benign
6	90553713	AACT	A	A90553717C	MAP3K7	NM_145331.3(MAP3K7):c.608-130_608-128del	noncoding	Benign
6	90556630	T	TA	C90556640A	MAP3K7	NM_145331.3(MAP3K7):c.483-15dup	noncoding	Benign
6	90571632	TA	T	A90571634T	MAP3K7	NM_145331.3(MAP3K7):c.231+64del	noncoding	Benign
6	90571915	TA	T	A90571929C	MAP3K7	NM_145331.3(MAP3K7):c.121-109del	noncoding	Benign
6	98874452	G	GAAACA	C98874478A	FBXL4	NM_001278716.2(FBXL4):c.1703-36TGTTT[6]	noncoding	Benign/Likely_benign
6	98875676	G	GT	A98875683T	FBXL4	NM_001278716.2(FBXL4):c.1440dup:p.Leu481fs	coding	Pathogenic/Likely_pathogenic
6	98917495	A	AT	A98917497T	FBXL4	NM_001278716.2(FBXL4):c.736dup:p.Ile246fs	coding	Pathogenic
6	98947764	GAC	G	C98947766G	FBXL4	NM_001278716.2(FBXL4):c.-309+40_-309+41del	noncoding	Benign
6	99446484	CAAAGA	C	A99446490G	USP45	NM_001346022.3(USP45):c.1309-26_1309-22del	noncoding	Benign
6	99613029	CCAGGGGAGGAGCG	C	A99613031T	PRDM13	NM_021620.4(PRDM13):c.398-2_408del	noncoding	Pathogenic
6	99613433	AG	A	G99613435A	PRDM13	NM_021620.4(PRDM13):c.800del:p.Gly267fs	coding	Pathogenic
6	99613473	GC	G	C99613474G	PRDM13	NM_021620.4(PRDM13):c.839del:p.Ala280fs	coding	Pathogenic
6	99613474	CG	C	G99613479T	PRDM13	NM_021620.4(PRDM13):c.844del:p.Val282fs	coding	Pathogenic
6	99613748	C	CCCG	T99613769G	PRDM13	NM_021620.4(PRDM13):c.1116GCC[7]:p.Pro378dup	coding	Benign
6	99613748	CCCGCCG	C	G99613763T	PRDM13	NM_021620.4(PRDM13):c.1116GCC[4]:p.Pro377_Pro378del	coding	Benign
6	100448605	TG	T	G100448607T	SIM1	NM_005068.3(SIM1):c.616del:p.Gln206fs	coding	Pathogenic
6	100453644	T	TG	T100453653G	SIM1	NM_005068.3(SIM1):c.258+110dup	noncoding	Benign
6	100463196	ATATGT	A	T100463197A	SIM1	NM_005068.3(SIM1):c.175+93_175+97del	noncoding	Benign
6	104744232	TAAC	T	C104744238G	HACE1	NM_020771.4(HACE1):c.2443-5_2443-3del	noncoding	Benign
6	104852387	C	CAG	A104852389G	HACE1	NM_020771.4(HACE1):c.77-17_77-16insTC	noncoding	Benign
6	105124385	CAAA	C	A105124406G	BVES	NM_001199563.2(BVES):c.648+159_648+161del	noncoding	Benign
6	105124385	CAA	C	A105124407G	BVES	NM_001199563.2(BVES):c.648+160_648+161del	noncoding	Benign
6	105129235	TA	T	A105129237T	BVES	NM_001199563.2(BVES):c.351+143del	noncoding	Benign
6	105133592	TA	T	A105133597C	BVES	NM_001199563.2(BVES):c.-11-5del	noncoding	Benign
6	106572332	TCTC	T	T106572337A	RTN4IP1	NM_032730.5(RTN4IP1):c.1084-232_1084-230del	noncoding	Benign
6	106592165	G	GT	A106592170T	RTN4IP1	NM_032730.5(RTN4IP1):c.804dup:p.Pro269fs	coding	Pathogenic
6	106622887	CAG	C	A106622890T	RTN4IP1	NM_032730.5(RTN4IP1):c.355_356del:p.Leu119fs	coding	Pathogenic
6	106629184	G	GA	G106629188A	RTN4IP1	NM_032730.5(RTN4IP1):c.-164dup	noncoding	Benign
6	106629185	AAAG	A	G106629191T	RTN4IP1	NM_032730.5(RTN4IP1):c.-170CTT[1]	noncoding	Benign
6	106641052	TG	T	G106641053T	QRSL1	NM_018292.5(QRSL1):c.283+132del	noncoding	Benign
6	106649248	AAC	A	C106649250G	QRSL1	NM_018292.5(QRSL1):c.557+49_557+50del	noncoding	Benign
6	106649398	TTAAAA	T	A106649402C	QRSL1	NM_018292.5(QRSL1):c.557+201_557+205del	noncoding	Benign
6	106655514	CA	C	A106655533G	QRSL1	NM_018292.5(QRSL1):c.1043-82del	noncoding	Benign
6	106655514	C	CA	G106655534A	QRSL1	NM_018292.5(QRSL1):c.1043-82dup	noncoding	Benign
6	107334526	CGTT	C	G107334554T	PDSS2	NM_020381.4(PDSS2):c.297-224AAC[9]	noncoding	Benign
6	107334526	CGTTGTT	C	G107334551T	PDSS2	NM_020381.4(PDSS2):c.297-224AAC[8]	noncoding	Benign
6	107334526	CGTTGTTGTTGTT	C	G107334545T	PDSS2	NM_020381.4(PDSS2):c.297-224AAC[6]	noncoding	Benign
6	107872503	T	TA	G107872515A	SEC63	NM_007214.5(SEC63):c.2139+294dup	noncoding	Benign
6	107876590	CAT	C	A107876591G	SEC63	NM_007214.5(SEC63):c.2006_2007del:p.His669fs	coding	Pathogenic
6	107876670	C	CAAA	G107876690A	SEC63	NM_007214.5(SEC63):c.1936-27_1936-25dup	noncoding	Benign
6	107882999	CTTTGT	C	G107883008T	SEC63	NM_007214.5(SEC63):c.1817_1821del:p.Asn606fs	coding	Pathogenic
6	107897653	ATT	A	T107897654G	SEC63	NM_007214.5(SEC63):c.1434_1435del:p.Met479fs	coding	Pathogenic
6	107901523	T	TA	G107901536A	SEC63	NM_007214.5(SEC63):c.1210-18dup	noncoding	Benign
6	107902861	C	CCCGT	T107902867C	SEC63	NM_007214.5(SEC63):c.1188_1191dup:p.Val398fs	coding	Pathogenic
6	107904718	TG	T	G107904719A	SEC63	NM_007214.5(SEC63):c.964del:p.Gln322fs	coding	Pathogenic
6	107908965	G	GTA	A107908970T	SEC63	NM_007214.5(SEC63):c.693_694dup:p.Thr232fs	coding	Pathogenic
6	107921826	CA	C	A107921827T	SEC63	NM_007214.5(SEC63):c.422del:p.Met141fs	coding	Pathogenic
6	107921882	GTTTTTTAA	G	T107921886C	SEC63	NM_007214.5(SEC63):c.359_366del:p.Ile120fs	coding	Pathogenic
6	107921915	GAAAAAC	G	C107921921A	SEC63	NM_007214.5(SEC63):c.340-12_340-7del	noncoding	Benign
6	107921921	C	CGGG	A107921922G	SEC63	NM_007214.5(SEC63):c.340-13_340-12insCCC	noncoding	Benign
6	107922082	A	ATT	A107922085T	SEC63	NM_007214.5(SEC63):c.340-175_340-174dup	noncoding	Benign
6	107924666	TATA	T	T107924671C	SEC63	NM_007214.5(SEC63):c.339+149_339+151del	noncoding	Benign
6	108051121	C	CA	G108051123A	OSTM1	NM_014028.4(OSTM1):c.692dup:p.Ser232fs	coding	Pathogenic
6	108064259	AT	A	T108064261A	OSTM1	NM_014028.4(OSTM1):c.442del:p.Met148fs	coding	Pathogenic
6	109377644	TA	T	A109377660G	CD164	NM_006016.6(CD164):c.331+255del	noncoding	Benign
6	109377644	T	TA	G109377661A	CD164	NM_006016.6(CD164):c.331+240dup	noncoding	Benign
6	109381925	CA	C	A109381926C	CD164	NM_006016.6(CD164):c.175+278del	noncoding	Benign
6	109446428	T	TGTGGTCTGGTCAGTGACCTGCCCAGG	A109446433T	MICAL1	NM_022765.4(MICAL1):c.2305-17_2305-16insCCACCCTGGGCAGGTCACTGACCAGA	noncoding	Benign
6	109446727	GC	TT	G109446727T	MICAL1	NM_022765.4(MICAL1):c.2272_2273delinsAA:p.Ala758Lys	coding	Benign
6	109448185	GCCTTT	G	T109448190C	MICAL1	NM_022765.4(MICAL1):c.1855+13_1855+17del	noncoding	Benign
6	109481117	T	TA	G109481121A	ZBTB24	NM_014797.3(ZBTB24):c.909dup:p.Lys304Ter	coding	Pathogenic
6	109481525	C	CT	G109481533T	ZBTB24	NM_014797.3(ZBTB24):c.501dup:p.Val168fs	coding	Pathogenic
6	109691426	TGCCGCCGCCATGCCCACG	T	A109691436C	FIG4	NM_014845.6(FIG4):c.1_18del:p.Met1_Ala6del	noncoding	Pathogenic
6	109732621	GT	G	T109732634A	FIG4	NM_014845.6(FIG4):c.447-3del	noncoding	Benign
6	109741450	TG	T	G109741451A	FIG4	NM_014845.6(FIG4):c.783del:p.Ile262fs	coding	Pathogenic
6	109743052	TATTTC	T	T109743056A	FIG4	NM_014845.6(FIG4):c.877-54_877-50del	noncoding	Benign
6	109743677	GATCAGGCA	G	A109743678G	FIG4	NM_014845.6(FIG4):c.1043_1050del:p.Asp348fs	coding	Pathogenic
6	109743846	TAAC	T	C109743849G	FIG4	NM_014845.6(FIG4):c.1137+77_1137+79del	noncoding	Benign
6	109763955	ATG	A	T109763960A	FIG4	NM_014845.6(FIG4):c.1412_1413del:p.Val471fs	coding	Pathogenic
6	109764895	TTTTTTG	T	T109764929C	FIG4	NM_014845.6(FIG4):c.1435-117TTTTTG[5]	noncoding	Benign
6	109764895	T	TTTTTTGTTTTTG	C109764935T	FIG4	NM_014845.6(FIG4):c.1435-117TTTTTG[8]	noncoding	Benign
6	109765020	TCCTTCGAA	T	T109765023A	FIG4	NM_014845.6(FIG4):c.1445_1452del:p.Leu482fs	coding	Pathogenic
6	109765113	TG	T	G109765116A	FIG4	NM_014845.6(FIG4):c.1538del:p.Gly513fs	coding	Pathogenic
6	109765171	A	AT	G109765178T	FIG4	NM_014845.6(FIG4):c.1583+16dup	noncoding	Benign
6	109786338	A	AG	A109786340G	FIG4	NM_014845.6(FIG4):c.1986dup:p.Lys663fs	coding	Pathogenic
6	109789655	GA	G	A109789658C	FIG4	NM_014845.6(FIG4):c.2161del:p.Thr721fs	coding	Pathogenic
6	109789670	G	GT	A109789672T	FIG4	NM_014845.6(FIG4):c.2174dup:p.Leu726fs	coding	Pathogenic
6	109792560	CT	C	T109792572A	FIG4	NM_014845.6(FIG4):c.2377-10del	noncoding	Benign
6	109792560	CTT	C	T109792571A	FIG4	NM_014845.6(FIG4):c.2377-11_2377-10del	noncoding	Benign/Likely_benign
6	111367566	CTG	C	T111367567A	REV3L	NM_001372078.1(REV3L):c.6220_6221del:p.Gln2074fs	coding	Pathogenic
6	111567696	C	CA	G111567706A	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1291-13dup	noncoding	Benign
6	112053864	GT	G	T112053865G	CCN6	Single_allele	noncoding	Benign
6	112064993	GC	G	C112064995A	CCN6	NM_198239.2(CCN6):c.587del:p.Pro196fs	coding	Pathogenic
6	112068230	G	GA	T112068240A	CCN6	NM_198239.2(CCN6):c.624dup:p.Cys209fs	coding	Pathogenic
6	112068239	ATG	A	G112068241C	CCN6	NM_198239.2(CCN6):c.626_627del:p.Cys209fs	coding	Pathogenic
6	112069566	TCAG	ATT	T112069566A	CCN6	NM_198239.2(CCN6):c.1011_1014delinsATT:p.Cys337_Gln338delinsTer	coding	Pathogenic
6	112129172	GTGTGTGTGTGTGTGCA	G	C112129187T	LAMA4	NM_001105206.3(LAMA4):c.4134-113_4134-98del	noncoding	Benign
6	112130299	T	TG	T112130300G	LAMA4	NM_001105206.3(LAMA4):c.3969-260_3969-259insC	noncoding	Benign
6	112130300	TTG	T	G112130336A	LAMA4	NM_001105206.3(LAMA4):c.3969-296CA[17]	noncoding	Benign
6	112130300	T	TGTGTG	T112130301G	LAMA4	NM_001105206.3(LAMA4):c.3969-261_3969-260insCACAC	noncoding	Benign
6	112130300	TTGTGTGTGTG	T	G112130328A	LAMA4	NM_001105206.3(LAMA4):c.3969-296CA[13]	noncoding	Benign
6	112130300	T	TTG	A112130338G	LAMA4	NM_001105206.3(LAMA4):c.3969-296CA[19]	noncoding	Benign
6	112130300	T	TTGTG	A112130338G	LAMA4	NM_001105206.3(LAMA4):c.3969-296CA[20]	noncoding	Benign
6	112150202	GACACAC	G	C112150230G	LAMA4	NM_001105206.3(LAMA4):c.2173+277GT[13]	noncoding	Benign
6	112150202	G	GACAC	G112150236C	LAMA4	NM_001105206.3(LAMA4):c.2173+277GT[18]	noncoding	Benign
6	112150202	G	GAC	G112150236C	LAMA4	NM_001105206.3(LAMA4):c.2173+277GT[17]	noncoding	Benign
6	112150228	CACACACAG	C	G112150236C	LAMA4	NM_001105206.3(LAMA4):c.2173+275_2173+282del	noncoding	Benign
6	112150419	GACAA	G	C112150425G	LAMA4	NM_001105206.3(LAMA4):c.2173+88_2173+91del	noncoding	Benign
6	112154656	A	AT	C112154667T	LAMA4	NM_001105206.3(LAMA4):c.2056+185dup	noncoding	Benign
6	112154656	A	ATT	C112154667T	LAMA4	NM_001105206.3(LAMA4):c.2056+185_2056+186dup	noncoding	Benign
6	112154656	AT	A	T112154666C	LAMA4	NM_001105206.3(LAMA4):c.2056+194del	noncoding	Benign
6	112159132	TA	T	A112159136C	LAMA4	NM_001105206.3(LAMA4):c.1669-253del	noncoding	Benign
6	112206953	A	AAAACAAAACG	A112206963G	LAMA4	NM_001105206.3(LAMA4):c.422+67_422+68insGTTTTGTTTC	noncoding	Benign
6	116120163	C	CCA	C116120169A	COL10A1	NM_000493.4(COL10A1):c.1951_1952dup:p.Trp651fs	coding	Pathogenic
6	116120215	TC	T	C116120217A	COL10A1	NM_000493.4(COL10A1):c.1900del:p.Asp634fs	coding	Pathogenic
6	116120239	TCATAGGTGTA	T	A116120243T	COL10A1	NM_000493.4(COL10A1):c.1867_1876del:p.Tyr623fs	coding	Pathogenic
6	116120246	TGTACATTACAGGG	T	A116120249G	COL10A1	NM_000493.4(COL10A1):c.1857_1869del:p.Val621fs	coding	Pathogenic
6	116120249	ACATTACAGGGGTGC	A	A116120254C	COL10A1	NM_000493.4(COL10A1):c.1853_1866del:p.Gly618fs	coding	Pathogenic
6	116120256	AG	A	G116120260T	COL10A1	NM_000493.4(COL10A1):c.1859del:p.Pro620fs	coding	Pathogenic
6	116125562	AT	A	T116125564C	COL10A1	NM_000493.4(COL10A1):c.-15-56del	noncoding	Benign
6	116279302	T	TCAC	T116279310A	TSPYL1	NM_003309.4(TSPYL1):c.523GTG[3]:p.Val176_Lys177insVal	coding	Benign
6	116427152	GA	G	A116427155T	DSE	NM_013352.4(DSE):c.670+328del	noncoding	Benign
6	116430787	C	CA	C116430790A	DSE	NM_013352.4(DSE):c.671-165dup	noncoding	Benign
6	116616386	A	ATC	G116616399T	RSPH4A	Single_allele	noncoding	Benign
6	116616386	ATC	A	T116616397G	RSPH4A	Single_allele	noncoding	Benign
6	116616824	C	CA	G116616827A	RSPH4A	NM_001010892.3(RSPH4A):c.203dup:p.Thr69fs	coding	Pathogenic
6	116617101	CT	C	T116617102G	RSPH4A	NM_001010892.3(RSPH4A):c.479del:p.Leu160fs	coding	Pathogenic
6	116617512	C	CT	G116617526T	RSPH4A	NM_001010892.3(RSPH4A):c.686+216dup	noncoding	Benign
6	116628111	TC	T	C116628114A	RSPH4A	NM_001010892.3(RSPH4A):c.1407del:p.Ile470fs	coding	Pathogenic
6	116629593	AC	A	C116629594A	RSPH4A	NM_001010892.3(RSPH4A):c.1690del:p.Gln564fs	coding	Pathogenic/Likely_pathogenic
6	116629634	AAG	A	G116629636C	RSPH4A	NM_001010892.3(RSPH4A):c.1732_1733del:p.Asp578fs	coding	Pathogenic
6	116630342	CAT	C	A116630343G	RSPH4A	NM_001010892.3(RSPH4A):c.1799-92_1799-91del	noncoding	Benign
6	116877064	T	TCCACCGCGG	C116877067A	RFX6	Single_allele	noncoding	Benign
6	116877064	T	TCCCACCGCGG	T116877086C	RFX6	Single_allele	noncoding	Benign
6	116882569	GA	G	A116882582G	RFX6	NM_173560.4(RFX6):c.566+154del	noncoding	Benign
6	116882569	G	GA	G116882583A	RFX6	NM_173560.4(RFX6):c.566+154dup	noncoding	Benign
6	116917861	ACACT	A	T116917865A	RFX6	NM_173560.4(RFX6):c.973-172_973-169del	noncoding	Benign
6	116919562	TAAG	T	A116919566C	RFX6	NM_173560.4(RFX6):c.1182+270_1182+272del	noncoding	Benign
6	116925413	G	GA	T116925420A	RFX6	NM_173560.4(RFX6):c.1679-34dup	noncoding	Benign
6	116925897	ATTAG	A	G116925901A	RFX6	NM_173560.4(RFX6):c.1885+242_1885+245del	noncoding	Benign
6	116927743	C	CT	G116927763T	RFX6	NM_173560.4(RFX6):c.2398+223dup	noncoding	Benign
6	116927743	C	CTTTT	G116927763T	RFX6	NM_173560.4(RFX6):c.2398+220_2398+223dup	noncoding	Benign
6	117675691	GGT	G	T117675695G	NUS1	NM_138459.5(NUS1):c.25_26del:p.Trp9fs	coding	Pathogenic
6	117675744	GG	AA	G117675744A	NUS1	NM_138459.5(NUS1):c.74_75delinsAA:p.Trp25Ter	coding	Pathogenic
6	117693014	GTTTTACTTGCCTTTTTC	G	A117693019T	NUS1	NM_138459.5(NUS1):c.416-23_416-7del	noncoding	Benign
6	117694010	ATTGT	A	G117694017T	NUS1	NM_138459.5(NUS1):c.542-14_542-11del	noncoding	Benign
6	117694185	G	GT	A117694193T	NUS1	NM_138459.5(NUS1):c.691+12dup	noncoding	Benign
6	118558626	TACAC	T	C118558658G	PLN	NM_002667.5(PLN):c.-97-198AC[15]	noncoding	Benign
6	118558626	T	TACACACAC	G118558662C	PLN	NM_002667.5(PLN):c.-97-198AC[21]	noncoding	Benign
6	118558626	T	TACACAC	G118558662C	PLN	NM_002667.5(PLN):c.-97-198AC[20]	noncoding	Benign
6	118558626	T	TACAC	G118558662C	PLN	NM_002667.5(PLN):c.-97-198AC[19]	noncoding	Benign
6	118558626	T	TAC	G118558662C	PLN	NM_002667.5(PLN):c.-97-198AC[18]	noncoding	Benign
6	118558646	CACACACACACACACAG	C	C118558648G	PLN	NM_002667.5(PLN):c.-97-177_-97-162del	noncoding	Benign
6	118558927	G	GA	G118558931A	PLN	NM_002667.5(PLN):c.9dup:p.Val4fs	coding	Pathogenic
6	118559012	CTATT	C	T118559016C	PLN	NM_002667.5(PLN):c.95_98del:p.Phe32fs	coding	Pathogenic
6	121091045	TA	T	A121091056G	TBC1D32	NM_152730.6(TBC1D32):c.3466-5del	noncoding	Benign
6	121091045	T	TA	G121091057A	TBC1D32	NM_152730.6(TBC1D32):c.3466-5dup	noncoding	Benign
6	121304628	G	GA	G121304637A	TBC1D32	NM_152730.6(TBC1D32):c.770-4dup	noncoding	Benign
6	123224014	GA	G	A123224028G	TRDN	NM_006073.4(TRDN):c.2014+78del	noncoding	Benign
6	123252492	TA	T	A123252495T	TRDN	NM_006073.4(TRDN):c.1952-58del	noncoding	Benign
6	123260644	G	GAA	G123260660A	TRDN	NM_006073.4(TRDN):c.1805-21_1805-20dup	noncoding	Benign
6	123260644	G	GA	G123260660A	TRDN	NM_006073.4(TRDN):c.1805-21dup	noncoding	Benign
6	123265347	G	GA	G123265354A	TRDN	NM_006073.4(TRDN):c.1784-10dup	noncoding	Benign
6	123265354	GA	G	A123265363G	TRDN	NM_006073.4(TRDN):c.1784-17del	noncoding	Benign
6	123267792	C	CTTTG	G123267797T	TRDN	NM_006073.4(TRDN):c.1739-45_1739-42dup	noncoding	Benign
6	123271039	C	CTG	C123271065G	TRDN	NM_006073.4(TRDN):c.1720+76CA[13]	noncoding	Benign
6	123271039	C	CTGTG	C123271065G	TRDN	NM_006073.4(TRDN):c.1720+76CA[14]	noncoding	Benign
6	123271039	C	CTGTGTG	C123271065G	TRDN	NM_006073.4(TRDN):c.1720+76CA[15]	noncoding	Benign
6	123278186	G	GT	A123278196T	TRDN	NM_006073.4(TRDN):c.1567+123dup	noncoding	Benign
6	123278955	CA	C	A123278957C	TRDN	NM_006073.4(TRDN):c.1537+100del	noncoding	Benign
6	123279094	TA	T	A123279101T	TRDN	NM_006073.4(TRDN):c.1511-13del	noncoding	Benign
6	123377760	G	GA	T123377770A	TRDN	NM_006073.4(TRDN):c.1220-19dup	noncoding	Benign
6	123381956	GCT	G	T123381988A	TRDN	NM_006073.4(TRDN):c.1165+130AG[15]	noncoding	Benign
6	123381956	G	GCT	A123381990T	TRDN	NM_006073.4(TRDN):c.1165+130AG[17]	noncoding	Benign
6	123381956	G	GCTCT	A123381990T	TRDN	NM_006073.4(TRDN):c.1165+130AG[18]	noncoding	Benign
6	123438324	A	AT	C123438325T	TRDN	NM_006073.4(TRDN):c.992-203_992-202insA	noncoding	Benign
6	123438324	A	ATTT	C123438325T	TRDN	NM_006073.4(TRDN):c.992-203_992-202insAAA	noncoding	Benign
6	123438325	C	CT	G123438338T	TRDN	NM_006073.4(TRDN):c.992-215dup	noncoding	Benign
6	123438325	C	CTTT	G123438338T	TRDN	NM_006073.4(TRDN):c.992-206_992-204dup	noncoding	Benign
6	123464887	G	GA	G123464898A	TRDN	NM_006073.4(TRDN):c.931+18dup	coding	Benign
6	123465116	CA	C	A123465122G	TRDN	NM_006073.4(TRDN):c.854-134del	noncoding	Benign
6	123516157	TTC	T	C123516159T	TRDN	NM_006073.4(TRDN):c.532_533del:p.Glu178fs	coding	Pathogenic
6	123516159	CT	C	T123516164C	TRDN	NM_006073.4(TRDN):c.531del:p.Glu178fs	coding	Pathogenic
6	123530549	CTT	C	T123530550A	TRDN	NM_006073.4(TRDN):c.439_440del:p.Lys147fs	coding	Pathogenic
6	123547340	CT	C	T123547347C	TRDN	NM_006073.4(TRDN):c.423del:p.Glu142fs	coding	Pathogenic
6	123547520	G	GT	A123547526T	TRDN	NM_006073.4(TRDN):c.392-153dup	noncoding	Benign
6	123548553	C	TT	C123548553T	TRDN	NM_006073.4(TRDN):c.292delinsAA:p.Glu98fs	coding	Pathogenic
6	123571063	AC	A	C123571064T	TRDN	NM_006073.4(TRDN):c.91del:p.Val31fs	coding	Pathogenic
6	123571097	T	TAAAA	G123571098A	TRDN	NM_006073.4(TRDN):c.57_58insTTTT:p.Lys20delinsPheTer	coding	Pathogenic
6	125754563	AT	A	T125754578G	HEY2	NM_012259.3(HEY2):c.328+32del	noncoding	Benign
6	129059853	G	GAA	T129059856A	LAMA2	NM_000426.4(LAMA2):c.354_355dup:p.Ile119fs	coding	Pathogenic
6	129059908	C	CT	G129059916T	LAMA2	NM_000426.4(LAMA2):c.396+19dup	noncoding	Benign
6	129098212	T	TC	G129098219C	LAMA2	NM_000426.4(LAMA2):c.442dup:p.Arg148fs	coding	Pathogenic
6	129143911	CTT	C	T129143913A	LAMA2	NM_000426.4(LAMA2):c.652_653del:p.Leu218fs	coding	Pathogenic
6	129147009	TG	T	G129147011T	LAMA2	NM_000426.4(LAMA2):c.872del:p.Gly291fs	coding	Pathogenic
6	129147044	C	CA	T129147048A	LAMA2	NM_000426.4(LAMA2):c.908dup:p.Asn303fs	coding	Pathogenic
6	129147264	C	CT	C129147282T	LAMA2	NM_000426.4(LAMA2):c.909+233dup	noncoding	Benign
6	129147264	C	CTT	C129147282T	LAMA2	NM_000426.4(LAMA2):c.909+232_909+233dup	noncoding	Benign
6	129149003	AAC	A	C129149007T	LAMA2	NM_000426.4(LAMA2):c.938_939del:p.Thr313fs	coding	Pathogenic
6	129149020	C	CCT	T129149021C	LAMA2	NM_000426.4(LAMA2):c.951_952insCT:p.Cys318fs	coding	Pathogenic/Likely_pathogenic
6	129165650	C	CAA	G129165653A	LAMA2	NM_000426.4(LAMA2):c.1282_1283dup:p.Asp429fs	coding	Pathogenic
6	129165943	AAG	A	A129165952T	LAMA2	NM_000426.4(LAMA2):c.1306+269AG[4]	noncoding	Benign
6	129178001	A	ACCCTATAAATGTCTTTAAATG	A129178005T	LAMA2	NM_000426.4(LAMA2):c.1467+138_1467+139insTATAAATGTCTTTAAATGCCC	noncoding	Benign
6	129250205	AT	A	T129250206C	LAMA2	NM_000426.4(LAMA2):c.1877del:p.Ile626fs	coding	Pathogenic
6	129252065	C	CT	C129252074T	LAMA2	NM_000426.4(LAMA2):c.1885-11dup	noncoding	Benign
6	129260798	AG	A	G129260801T	LAMA2	NM_000426.4(LAMA2):c.2187del:p.Tyr730fs	coding	Pathogenic
6	129260805	AC	A	C129260806T	LAMA2	NM_000426.4(LAMA2):c.2192del:p.Thr731fs	coding	Pathogenic
6	129280109	T	TCATCCAA	G129280110C	LAMA2	NM_000426.4(LAMA2):c.2499_2500insCATCCAA:p.Gly834fs	coding	Pathogenic
6	129280129	C	CA	G129280131A	LAMA2	NM_000426.4(LAMA2):c.2520dup:p.Gly841fs	coding	Pathogenic
6	129287871	AC	A	C129287874T	LAMA2	NM_000426.4(LAMA2):c.2565del:p.Ser856fs	coding	Pathogenic
6	129288023	AT	A	T129288027G	LAMA2	NM_000426.4(LAMA2):c.2718del:p.Phe906fs	coding	Pathogenic
6	129291695	AG	A	G129291698T	LAMA2	NM_000426.4(LAMA2):c.2834del:p.Gly945fs	coding	Pathogenic
6	129291921	A	AT	G129291931T	LAMA2	NM_000426.4(LAMA2):c.2856+210dup	noncoding	Benign
6	129297847	CAA	C	A129297848G	LAMA2	NM_000426.4(LAMA2):c.3020_3021del:p.Gln1007fs	coding	Pathogenic
6	129298090	C	CTTTT	G129298091T	LAMA2	NM_000426.4(LAMA2):c.3037+225_3037+226insTTTT	noncoding	Benign
6	129300785	A	ATGCATTTGCCCTCCCAATACCATTGGAGAGAAATGTTC	A129300825G	LAMA2	NM_000426.4(LAMA2):c.3089_3126dup:p.Lys1043fs	coding	Pathogenic
6	129312866	TA	T	A129312868C	LAMA2	NM_000426.4(LAMA2):c.3182del:p.Asn1061fs	coding	Pathogenic
6	129312958	CAG	C	A129312961T	LAMA2	NM_000426.4(LAMA2):c.3275_3276del:p.Glu1092fs	coding	Pathogenic
6	129312978	TG	T	G129312980A	LAMA2	NM_000426.4(LAMA2):c.3294del:p.His1097_Trp1098insTer	coding	Pathogenic/Likely_pathogenic
6	129313015	TC	T	C129313018T	LAMA2	NM_000426.4(LAMA2):c.3332del:p.Pro1111fs	coding	Pathogenic
6	129313023	A	ACAGATGCC	A129313032C	LAMA2	NM_000426.4(LAMA2):c.3338_3345dup:p.Thr1116fs	coding	Pathogenic
6	129313052	T	TA	T129313059A	LAMA2	NM_000426.4(LAMA2):c.3372dup:p.Cys1125fs	coding	Pathogenic
6	129315465	AC	A	C129315469T	LAMA2	NM_000426.4(LAMA2):c.3556-7del	noncoding	Benign
6	129315512	GTAGATGAGGCTCT	G	T129315513G	LAMA2	NM_000426.4(LAMA2):c.3593_3605del:p.Val1198fs	coding	Pathogenic
6	129315586	C	CT	C129315587T	LAMA2	NM_000426.4(LAMA2):c.3666_3667insT:p.Leu1223fs	coding	Pathogenic
6	129315609	T	TGGAACCTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A129315621T	LAMA2	NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTT:p.Tyr1234delinsPhePhePheXaaXaaXaaXaaArgMetValSerIleSerTer	coding	Pathogenic
6	129315616	T	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACC	A129315621T	LAMA2	NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT:p.Tyr1234delinsPhePhePhePhePhePhePhePheTer	coding	Pathogenic
6	129315740	ATTC	A	C129315746T	LAMA2	NM_000426.4(LAMA2):c.3736-16_3736-14del	noncoding	Benign
6	129315898	TG	T	G129315900C	LAMA2	NM_000426.4(LAMA2):c.3874del:p.Ala1292fs	coding	Pathogenic
6	129315909	CTGAT	C	A129315912G	LAMA2	NM_000426.4(LAMA2):c.3886_3889del:p.Ile1296fs	coding	Pathogenic
6	129316050	TA	T	A129316051T	LAMA2	NM_000426.4(LAMA2):c.3938del:p.Tyr1313fs	coding	Pathogenic
6	129328338	AC	A	C129328341T	LAMA2	NM_000426.4(LAMA2):c.4240del:p.Leu1414fs	coding	Pathogenic
6	129328395	GA	G	A129328398C	LAMA2	NM_000426.4(LAMA2):c.4297del:p.Thr1433fs	coding	Pathogenic
6	129342396	CTATGG	C	T129342397A	LAMA2	NM_000426.4(LAMA2):c.4366_4370del:p.Tyr1456fs	coding	Pathogenic
6	129352895	C	CATT	A129352918T	LAMA2	NM_000426.4(LAMA2):c.4524-268ATT[8]	noncoding	Benign
6	129353221	TGA	T	A129353223T	LAMA2	NM_000426.4(LAMA2):c.4583_4584del:p.Glu1528fs	coding	Pathogenic
6	129353254	CT	C	T129353255G	LAMA2	NM_000426.4(LAMA2):c.4615del:p.Cys1539fs	coding	Pathogenic
6	129353272	AT	A	T129353274C	LAMA2	NM_000426.4(LAMA2):c.4634del:p.Phe1545fs	coding	Pathogenic
6	129353320	CA	C	A129353322G	LAMA2	NM_000426.4(LAMA2):c.4682del:p.Lys1561fs	coding	Pathogenic/Likely_pathogenic
6	129353328	G	GGCAT	C129353336T	LAMA2	NM_000426.4(LAMA2):c.4692_4695dup:p.Arg1566fs	coding	Pathogenic/Likely_pathogenic
6	129353416	TC	T	C129353418A	LAMA2	NM_000426.4(LAMA2):c.4717+61del	noncoding	Benign
6	129353448	C	CT	G129353464T	LAMA2	NM_000426.4(LAMA2):c.4717+106dup	noncoding	Benign
6	129366314	CCATATAAAATGCTGTAT	C	C129366315G	LAMA2	NM_000426.4(LAMA2):c.4814_4830del:p.Pro1605fs	coding	Pathogenic
6	129391239	CTT	C	T129391241C	LAMA2	NM_000426.4(LAMA2):c.5072-250_5072-249del	noncoding	Benign
6	129391523	AC	A	C129391524T	LAMA2	NM_000426.4(LAMA2):c.5105del:p.Thr1702fs	coding	Pathogenic
6	129391553	AG	A	G129391554A	LAMA2	NM_000426.4(LAMA2):c.5135del:p.Arg1712fs	coding	Pathogenic
6	129391609	G	GA	T129391615A	LAMA2	NM_000426.4(LAMA2):c.5195dup:p.Asn1732fs	coding	Pathogenic/Likely_pathogenic
6	129391792	C	CATCT	T129391819C	LAMA2	NM_000426.4(LAMA2):c.5234+140ATCT[7]	noncoding	Benign
6	129393100	GA	G	A129393104T	LAMA2	NM_000426.4(LAMA2):c.5294del:p.Asn1765fs	coding	Pathogenic
6	129393165	T	TG	C129393167G	LAMA2	NM_000426.4(LAMA2):c.5356dup:p.Ala1786fs	coding	Pathogenic
6	129402208	C	CAAAAA	C129402228A	LAMA2	NM_000426.4(LAMA2):c.5563-101_5563-97dup	noncoding	Benign
6	129402208	C	CA	C129402228A	LAMA2	NM_000426.4(LAMA2):c.5563-97dup	noncoding	Benign
6	129403888	AAGGACTATAT	A	A129403889T	LAMA2	NM_000426.4(LAMA2):c.5795_5804del:p.Lys1932fs	coding	Pathogenic
6	129427848	GT	TG	G129427848T	LAMA2	NM_000426.4(LAMA2):c.5962_5963delinsTG:p.Val1988Ter	coding	Pathogenic
6	129438704	TG	T	G129438708A	LAMA2	NM_000426.4(LAMA2):c.6031del:p.Asp2011fs	coding	Pathogenic
6	129438736	T	TG	A129438740G	LAMA2	NM_000426.4(LAMA2):c.6062dup:p.Leu2023fs	coding	Pathogenic/Likely_pathogenic
6	129440843	A	AG	A129440846G	LAMA2	NM_000426.4(LAMA2):c.6115dup:p.Asp2039fs	coding	Pathogenic
6	129440854	A	AGACAAGCCAAC	C129440870A	LAMA2	NM_000426.4(LAMA2):c.6129_6139dup:p.Thr2047fs	coding	Pathogenic
6	129440919	TG	T	G129440921C	LAMA2	NM_000426.4(LAMA2):c.6191del:p.Gly2064fs	coding	Pathogenic
6	129445714	CGGCTAATAGATAA	C	G129445715A	LAMA2	NM_000426.4(LAMA2):c.6323_6335del:p.Arg2108fs	coding	Pathogenic
6	129452975	G	GT	A129452984T	LAMA2	NM_000426.4(LAMA2):c.6430-5dup	noncoding	Benign/Likely_benign
6	129453128	AT	A	T129453131G	LAMA2	NM_000426.4(LAMA2):c.6573del:p.Phe2191fs	coding	Pathogenic
6	129453945	C	CT	G129453959T	LAMA2	NM_000426.4(LAMA2):c.6574-197dup	noncoding	Benign
6	129453945	CT	C	T129453958G	LAMA2	NM_000426.4(LAMA2):c.6574-197del	noncoding	Benign
6	129454196	CT	C	T129454198C	LAMA2	NM_000426.4(LAMA2):c.6617del:p.Phe2206fs	coding	Pathogenic
6	129454216	CTG	C	T129454217G	LAMA2	NM_000426.4(LAMA2):c.6636_6637del:p.Gly2213fs	coding	Pathogenic
6	129460295	AG	A	G129460296A	LAMA2	NM_000426.4(LAMA2):c.6964del:p.Glu2322fs	coding	Pathogenic
6	129473281	CA	C	A129473283C	LAMA2	NM_000426.4(LAMA2):c.7370del:p.Asn2457fs	coding	Pathogenic
6	129473304	CAG	C	G129473306T	LAMA2	NM_000426.4(LAMA2):c.7393_7394del:p.Ala2464_Asp2465insTer	coding	Pathogenic
6	129480966	AAC	A	C129480968A	LAMA2	NM_000426.4(LAMA2):c.7573-295_7573-294del	noncoding	Benign
6	129481318	CA	C	A129481320T	LAMA2	NM_000426.4(LAMA2):c.7630del:p.Ile2544fs	coding	Pathogenic
6	129481344	CT	C	T129481345G	LAMA2	NM_000426.4(LAMA2):c.7655del:p.Leu2552fs	coding	Pathogenic
6	129481355	CA	C	A129481356C	LAMA2	NM_000426.4(LAMA2):c.7666del:p.Thr2556fs	coding	Pathogenic
6	129484760	GGTAATGATAAACATAAAATCCACATTTGTGGTTACCTCTGAGATGGAGAAGCAAGGAGATGGTATTAGAAAGAAACTCATAAGAGATGCAATGGTATTGTTTCTGAAATTTGGTGGTAGATTTACAGGTATTCATGTTATTATACAGTGTTAACGCAGCTTCATCGTTTACATGTATATCACTCATATTGTGAAGAATATATCAAATAGTCGTAATAAAAATATTTTTGAAGAGTAGAGGGAGAAAAGTGTTATTTTATTTCATTTCTTACTACACATAATAAGCACTAAATAAATATAAAATACAAATGCCCTCGTCAATTTTTTTGTTTATCTTGAAAAATAAACTTTTTTCTCATATTGCAAATGATAAGCTAGTTATAATAAGAATACCAGATCAAATATTCTGAAATAGATTTCCACTAAAGGATACTTGATTCCTTCATCATTGCCAGATATTTAAACACTACCTACTGGCTCCAAATTTCTCCTCTTCAAGATAAAAGAAATGAATGTGAATCACCAGCTTTCAGGATAGTGCTTAAAATAAAACAGATTCCTATTAAAACAATTACAATAAGAAAACACTATGTAGTATAGTATAAAGTAAGTTAAAATGACATTTTAATGTTTTAACATTTTAATAACTCATATCTACTTTATAAAATATCATAGTATATGCTATCTGAAGGAGGAACCAATGTTAAATAGTATAAGTCTGTTAGACATAATTAGATTTAGATTCAGTGCTGGTTAAATTGACAAGTTTTATATTTCAAAGCTAACGGTTTTGATACCCATAGAGTTATTTGTGATTCCTTTCTGCTAAATGGGTTTGATATGGCAAACCATCCATGAGCTAAGGAATTTTTAATTGAGTAGTTTGTGTTTTCCCTTTGACAGATGGTGAGCACTTATCCAGATCCTCAAAATGTTCTGTGGTGGACACGTAACTACATACATGATTTAGTAAATTATTGGAACATGATGATGTTTGATGGAATCTGTCTCTACCACCATAGATGACTCATGGAGAACTGAGCCATCACTGTGTGGCAGGTGCCCCCATACTCCACAAGAAAGGGAGAGCACGTGGCATCAGCTCTAGGGACAAGGACTGCATTCAGGCTCCCTGGGGTTCATGATGGGATATCAAAACCACACTGGTTGCTATAGTAACAGTAGCAAGAAGAAAGCAGGCATGCTTGTGGATGAAAAATTATCTTCCTTCTTTCTAAATGTGGGAGGCAGGTTACATGTTTGTGATAGCGATCTATTCTACCAGCTCAGAGAACAAATTGAAGTCTAAATACTCAGAATGCCACAAGGTTGGGAGTCAGGCCTGATTCTCAGAAGCTAGCTGTCCACTTGTGAATATAAGGGAGAGGGATTTTGTTGACACCCTTTGTCTCCTGATGGGTTTTATAAGTTAGAGGACCAACGCAAGCACAGCTGTTACTTTCAGCATCACAAATCTGCTTTGCAGAGAACTGCTATATTAATATATCCACTTTCCAGATCATCTCACAAGCAAAAATGGTAAATGATTAGAAAGATATTTCCAGCTGTTTTCAAAACCGTTTGAGAAAATAAAGTCTTAATTTCTCAGGTAAGATCTCAGAGCAGACGAACCTGTGGTTCTGCCAGGGAATCTCTAAAGCTAAGCCATAAATGAGACTTCTGTTTAATCTTCAATAACCACTTGCTGTTGCAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCGAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGGTAACAATAGCACTAAAATATTTATTATTGTAACTCAGGTGAACTTCCTTTGCTAGCATCGGTATCTATCAGTATCTGCCTGAACCTCTGTGTGTGTGGACCTACTATGCATTGCAAAAGGATACCGTAGCTTAATTCCCTCTTCTTTACTTTTCATACTTCGGGAACCTCATTTGCCTCAGCCCTTAGGAGTTCTACCCTTAACATTTTTATTCGTGCAGTTATCTCCACCTTTGGAAAAACCAAATGCATTTTCTGAAGCTATAAATAAGAAAAATCCCTCCCTCTGCCCCTCTTAAATATTACCTCCTCAAATAAGGTATGCACACAGCAAAACTCACAAATCAGCTCCACTGGAGCCAGCAGGCTTTGGCGGTTTCTATCTCATTCAGGTTCCAAAGCAGTTATGGCAGCTGCTTAGCTGTCACAGATACAGAGTGTGGCAGCAGCTGCAGGACCTATTGAGCCTATTAAGTGCATATCTTGTCCCTGTCCCCCTTCCCAAGGTTTGCAGGGTCCCTGCAGAGTGGCTTTCTGAGGGAACAGAATCAAGGGAGGGGAGGAAAATGACTGCTGCCCTGAGCCTGGCCACCTTTTTACAAATCTACCAGAGTGCTTGCCCCAGCCCTGGGCCAGGGAATTGGCTTTACTCATGCACAAACTGATGACTTTCTTTAGAATGCTGCAATACTTTATACTTACTTTATTAGGAAAGTCATCTGTATTTTTCATCAAAATATTGTATGACAACTCAGAGAGATAATTAGTTTAGAAGGACAATTAGAGAAAAAAGAAACAGAAGCCCAGAGACTTCAGGGGTTCAGACCTCCAAGCCAGCAATCCATTTATCAGACTGAAGACATAGAAAAGAACTGGAAATCCAATTTGATGAGGCCTCAAAACACAGAGGATACTTTTAAATGCAACGAGTATGAATATGTAGCAGTAGTTCAGCCAAGCCAATACTATCCTGCAGTGAAAGACCTACATTTACTAATTATCCTCTTGGGGAAAACATTTAGATAAGCAATAAAGATTTCTTACCTTCTAAGTAAACAACAAAGCTTTCCTCAGTTTTTATTATTATTATTATTAGGTAGAGGATTAGGCTGTAGGATGAATTGATACAAAGCGTTCATGCAGAATGGCTACTGAGACGTTTAGAAACCATGATCGAGACAAATGAGGGATCATTTATTTGGACAAACTGAGAACTTTTACTAATCTAACAGCCAGATATTGTAGTCATGGTCTCTGAGGAGAAATGCAAACTGAATGCTCTCATTTGAATCTTAGAATGCTTTAGAATCCTGGTTTCACATGTCTTCTAGATTAGATGTTAGGCCCTTTGACAAACTTTAATCCTTTTCATTGCGGAAAGGACTTTTTAAAAGATTTAAACTTTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAACATTAGCCAGACATGGTGGTAGGCGCCTGTAATCACAGCTACTCTGGAGGCTGAGGCAGGAGAAATGCTTAAACCAGGGGGACAGAGGTTTCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCAACTCGGAAAAAACAAAACAAAACAAAAACATTTAAACTTTAAGGAATTTCAATAAGTAACTGCAGATTTGAGAAATTAGTTTACCGAAATCACTCAAAATGTGTTATTTTGTTGAGAAAGAATTCTGGAATTCCCAAATGCATTACACTATTGTACCACTATGCCACTATGTCCTTTTAACAGGTGCTTCTTCAAGAAGGGCATTTTATTATGCCAACTTCACAGCTGTTGACCATCAATCCAACCTTTATTTGATTAAGCTCAGTATATAGTACATCACTGGAAACCAGTCATTTAGTTAATTGGCCATATAAACGAACAGTTTTGCCATTCATTGTTAATTACAGGATAATATATGACATATTAGTGTGTAGTCACTGAACTCTGTGCCAAAACAGTAATACATTTGCTACCATAATGGCTCATTCGGCACTCTAAGGTTAAAATGCAATCTACTCTATAAGCAAGTGCCACATTAAACTGATTGACCAGAGATCGCAAGTGACCATGAGAACTTCACCCAGAAAAAATTTTTAATGCTTTATATGCCTATTCTATGGCATGATTTGTGTCACATACTAGACAAAGATGATTTGTTTTCATTGTTCTGAATGTATGTGAGATCTGTAATAACATCCTTTCATCACAGATGAGAAAATATTAACTAACCTGCCCAAAATCATGTACTACAAATAACAGGACCAGGTATTAAATGAGATGATATATTTGACTTAAATACCTCCATCTATGCACAGCCAATAGATTATTCTTACATTTTTGTGTGACCATAAAGGTTTATATTACTAAATGTTGATTATGATGTATGATTATTAATTTGGAGATATTTGCATTATCCCAACACTTTTCAGATTTTCAGACTATGCATGTCAGTCATCATTTCTTTTCCTAAAATCCTGGACAAAATGATAGCTTTAATACCGCCTCACAAAATAATTGGATTTTCACCAAACTGGGGGCCAAGCTTCTCAAGAAGCTCCTTCTCCCTTGTCCTCTGCCTCTCTTTACTCCTCCTCCCTCATTCTCTCTCCCTTCCACCCCTTCATCTGGAAAAATCTCCCTTTAGTCACTTTGGTATCTAATTTCTTGGCACTCCAGTGACCTCTGCCTCCTATATCTGCTTTGTCCTCTGATCCTTCTCCTGGCATCCGCCTTGGTGGCCAGCAGTTCTTACTGGACAAAAACATCAAACCCTAAGAGCCTGAAGTAGTTACTTAAGCAAATAGGACAAGCAACTGAACTGAGTTTTTCTTCTGGGAAAGCTTTCTTCACACAGGTACAGAAATAGGCTAAAGGTCAGGAAGTAGGGTGAGATATTTTAGGAGTCATTTGGGGTTTCCAGAATGAGATAAAGATTTTAACACTGAACCCTAAATATTTTCTTTCTTAACATCCAAAGTATGTTCAAACAGAAAAAAGATTAGA	G	G129484761T	LAMA2	NM_000426.4(LAMA2):c.7750-1713_7899-2153del	noncoding	Pathogenic
6	129486498	AG	A	G129486502C	LAMA2	NM_000426.4(LAMA2):c.7778del:p.Gly2593fs	coding	Pathogenic
6	129486537	AC	A	C129486538A	LAMA2	NM_000426.4(LAMA2):c.7814del:p.Thr2605fs	coding	Pathogenic
6	129486545	G	GA	T129486550A	LAMA2	NM_000426.4(LAMA2):c.7825dup:p.Ile2609fs	coding	Pathogenic
6	129486592	A	AAC	T129486596C	LAMA2	NM_000426.4(LAMA2):c.7870_7871dup:p.Ser2625fs	coding	Pathogenic
6	129491945	AC	A	C129491947T	LAMA2	NM_000426.4(LAMA2):c.7945del:p.Asn2648_Leu2649insTer	coding	Pathogenic
6	129492415	GAAATAGTT	G	A129492417T	LAMA2	NM_000426.4(LAMA2):c.8178_8185del:p.Glu2726fs	coding	Pathogenic
6	129502678	CA	C	A129502679G	LAMA2	NM_000426.4(LAMA2):c.8265del:p.Glu2756fs	coding	Pathogenic
6	129502709	G	GT	C129502712T	LAMA2	NM_000426.4(LAMA2):c.8297dup:p.Gly2767fs	coding	Pathogenic
6	129503095	AC	A	C129503096A	LAMA2	NM_000426.4(LAMA2):c.8363del:p.Thr2788fs	coding	Pathogenic
6	129503107	GAAGT	G	T129503111A	LAMA2	NM_000426.4(LAMA2):c.8378_8381del:p.Val2793fs	coding	Pathogenic
6	129503111	TAAGA	T	A129503113C	LAMA2	NM_000426.4(LAMA2):c.8380_8383del:p.Arg2794fs	coding	Pathogenic
6	129503272	TG	T	G129503274C	LAMA2	NM_000426.4(LAMA2):c.8541del:p.Trp2847fs	coding	Pathogenic
6	129503275	CA	C	A129503276C	LAMA2	NM_000426.4(LAMA2):c.8543del:p.His2848fs	coding	Pathogenic
6	129505201	TTAAGA	T	G129505205T	LAMA2	NM_000426.4(LAMA2):c.8553_8557del:p.Lys2851fs	coding	Pathogenic
6	129505264	T	TC	A129505266C	LAMA2	NM_000426.4(LAMA2):c.8613dup:p.Ser2872fs	coding	Pathogenic
6	129507498	A	AGGTGAC	C129507500G	LAMA2	NM_000426.4(LAMA2):c.8714_8715insGTGACG:p.Ser2905delinsArgTer	coding	Pathogenic
6	129507532	CA	C	A129507533G	LAMA2	NM_000426.4(LAMA2):c.8748del:p.Glu2917fs	coding	Pathogenic
6	129507582	AC	A	C129507583A	LAMA2	NM_000426.4(LAMA2):c.8798del:p.Thr2933fs	coding	Pathogenic
6	129507586	GT	G	T129507590G	LAMA2	NM_000426.4(LAMA2):c.8805del:p.Phe2935fs	coding	Pathogenic
6	129512382	A	AT	G129512385T	LAMA2	NM_000426.4(LAMA2):c.8879dup:p.Leu2960fs	coding	Pathogenic
6	129512466	A	AATGG	G129512471A	LAMA2	NM_000426.4(LAMA2):c.8962_8965dup:p.Gly2989fs	coding	Pathogenic
6	129514448	G	GATGGACA	C129514460A	LAMA2	NM_000426.4(LAMA2):c.9069_9075dup:p.His3026fs	coding	Pathogenic
6	129514523	GAAGCCCA	G	G129514533C	LAMA2	NM_000426.4(LAMA2):c.9149_9155del:p.Ser3050fs	coding	Pathogenic
6	129514539	AC	A	C129514542A	LAMA2	NM_000426.4(LAMA2):c.9158del:p.Pro3053fs	coding	Pathogenic
6	129514551	C	CAT	C129514554A	LAMA2	NM_000426.4(LAMA2):c.9168_9169dup:p.Ser3057fs	coding	Pathogenic
6	129514572	CTG	C	G129514576T	LAMA2	NM_000426.4(LAMA2):c.9192_9193del:p.Phe3065fs	coding	Pathogenic/Likely_pathogenic
6	129514574	G	GT	G129514576T	LAMA2	NM_000426.4(LAMA2):c.9191dup:p.Phe3065fs	coding	Pathogenic
6	129514574	G	GTGTT	G129514583T	LAMA2	NM_000426.4(LAMA2):c.9195_9198dup:p.Gly3067fs	coding	Pathogenic
6	129516022	A	ATCTT	C129516034T	LAMA2	NM_000426.4(LAMA2):c.9212-167TCTT[3]	noncoding	Benign
6	131573329	CA	C	A131573332G	ARG1	NM_000045.4(ARG1):c.50del:p.Lys17fs	coding	Pathogenic
6	131576681	GA	G	A131576683G	ARG1	NM_000045.4(ARG1):c.78del:p.Gly27fs	coding	Pathogenic
6	131576697	TG	T	G131576698A	ARG1	NM_000045.4(ARG1):c.93del:p.Arg32fs	coding	Pathogenic
6	131576732	CA	C	A131576734G	ARG1	NM_000045.4(ARG1):c.129del:p.Glu44fs	coding	Pathogenic/Likely_pathogenic
6	131579241	CAAGA	C	A131579243G	ARG1	NM_000045.4(ARG1):c.263_266del:p.Lys88fs	coding	Pathogenic
6	131579250	CG	C	G131579252A	ARG1	NM_000045.4(ARG1):c.272del:p.Gly91fs	coding	Pathogenic
6	131580758	A	AAG	C131580761A	ARG1	NM_000045.4(ARG1):c.306-460_306-459dup	noncoding	Benign
6	131581099	T	TATCA	G131581104A	ARG1	NM_000045.4(ARG1):c.306-119_306-116dup	noncoding	Benign
6	131581199	CA	C	A131581203T	ARG1	NM_000045.4(ARG1):c.306-16del	noncoding	Benign
6	131581284	A	AT	G131581286T	ARG1	NM_000045.4(ARG1):c.372dup:p.Ala125fs	coding	Pathogenic/Likely_pathogenic
6	131582701	GGAC	G	G131582702C	ARG1	NM_000045.4(ARG1):c.547_549del:p.Asp183del	coding	Pathogenic
6	131582814	G	GAC	T131582832C	ARG1	NM_000045.4(ARG1):c.560+100AC[9]	noncoding	Benign
6	131583073	ACT	A	C131583076A	ARG1	NM_000045.4(ARG1):c.577_578del:p.Leu193fs	coding	Pathogenic
6	131583101	CTG	C	T131583102A	ARG1	NM_000045.4(ARG1):c.603_604del:p.Glu202fs	coding	Pathogenic
6	131583372	AT	A	T131583373C	ARG1	NM_000045.4(ARG1):c.684del:p.His228_Leu229insTer	coding	Pathogenic
6	131583564	G	GA	C131583568A	ARG1	NM_000045.4(ARG1):c.802+76dup	noncoding	Benign
6	131583743	GCTACT	G	A131583746C	ARG1	NM_000045.4(ARG1):c.807_811del:p.Leu270fs	coding	Pathogenic
6	131583756	T	TTAGA	T131583763G	ARG1	NM_000045.4(ARG1):c.820_823dup:p.Ile275fs	coding	Pathogenic
6	131583757	TA	T	A131583758G	ARG1	NM_000045.4(ARG1):c.819del:p.Asp274fs	coding	Pathogenic
6	131583775	AC	A	C131583778A	ARG1	NM_000045.4(ARG1):c.839del:p.Pro280fs	coding	Pathogenic
6	131596109	C	CA	G131596111A	MED23	NM_004830.4(MED23):c.2832dup:p.Val945fs	coding	Pathogenic
6	131627676	T	TAA	C131627691A	MED23	NM_004830.4(MED23):c.40-6_40-5dup	noncoding	Benign
6	131808055	C	CG	C131808062G	ENPP1	NM_006208.3(ENPP1):c.26dup:p.Gly10fs	coding	Pathogenic
6	131808224	GGC	G	G131808231C	ENPP1	NM_006208.3(ENPP1):c.196_197del:p.Ala66fs	coding	Pathogenic
6	131847855	A	AGG	T131847858G	ENPP1	NM_006208.3(ENPP1):c.313+8_313+9dup	noncoding	Benign
6	131847858	TGTG	T	G131847859T	ENPP1	NM_006208.3(ENPP1):c.313+11_313+13del	noncoding	Benign
6	131852191	AG	A	G131852192A	ENPP1	NM_006208.3(ENPP1):c.574del:p.Glu192fs	coding	Pathogenic
6	131860467	TAA	T	A131860469G	ENPP1	NM_006208.3(ENPP1):c.878_879del:p.Lys293fs	coding	Pathogenic
6	131864866	AC	A	C131864868A	ENPP1	NM_006208.3(ENPP1):c.1094del:p.Pro365fs	coding	Pathogenic
6	131867927	CT	C	T131867942A	ENPP1	NM_006208.3(ENPP1):c.1165-76del	noncoding	Benign
6	131869340	A	AT	C131869351T	ENPP1	NM_006208.3(ENPP1):c.1274-8dup	noncoding	Benign
6	131875513	G	GA	T131875523A	ENPP1	NM_006208.3(ENPP1):c.1636-254dup	noncoding	Benign
6	131882031	T	TAATA	T131882060A	ENPP1	NM_006208.3(ENPP1):c.2101-313AATA[8]	noncoding	Benign
6	131882058	T	TAAAA	T131882060A	ENPP1	NM_006208.3(ENPP1):c.2101-286_2101-285insAAAA	noncoding	Benign
6	131882431	TA	T	A131882436T	ENPP1	NM_006208.3(ENPP1):c.2192del:p.Asn731fs	coding	Pathogenic
6	131882601	TTATA	T	A131882609T	ENPP1	NM_006208.3(ENPP1):c.2230+128TA[3]	noncoding	Benign
6	131882648	ATT	A	T131882651A	ENPP1	NM_006208.3(ENPP1):c.2230+177_2230+178del	noncoding	Benign
6	131883762	CA	C	A131883763G	ENPP1	NM_006208.3(ENPP1):c.2300del:p.Gln767fs	coding	Pathogenic
6	131885762	ATCAGAAAGCACATCAATTTGCAAAGTTACAGTTTTTTACTTTCCCTTGAGGCATAAAGCTGCCTTAGAAGCTGTAGCACTGGAGAGGATACAGAAGAGAACTGCATATGCTTCCTACCCACGGCTTCACCCAGAGCCCTCTGTTTAAATCTGTTTTATAGATTATGTTTCTACATAAGGTCATATTTGAAAACAATGATTCCACTGCCTTAAATTTTGAAAGATGTTGAAAAAACAAACACAGCCTTAAAATAGGAGAATGACTATGAGGTAAAGATGTTTGGGACATCTTTGATAATATACTTCAGTTTAAAAAATTAAGTTATTAAGGAAGAAAATCCAGTTAGAACAAACAATTCATGACAACATGTCCTCTCTGAAGGGGCTGGAATAGAAAATTCCTAACCAGTTCTTTCTCTGCCCACTATTTGTCTATAATCGCCTAGAAGTTAAGACTATCAATAATGGTTTACACTCTTGGTCATAGGTGTTCAAAAATGACATTTTCTTTTCTTTAGTGTTTCAATTTCAATGTCTTTAGGTAGAACTAAAAGAATTCTAAAAGTCAATAAACTTCTACAGAAAATAAAAATTATTTGGAGTGTGTTTATCTGCCTGTCTTCTAATTATTGCTCTCAATCTGGCAGAGTATGTTGAGGTATTGTGATTACTAGCTTCTTATATTTAATTATTTGTTTGAATTTGATTTTTATATGTATTAAAAGCATGCTCTACTGAAATATTCATCAAAAGGAAGATAGTTATTTCTTTCTTAAAATGAATATTGGCATGTTTTACAGAAAAAGAAGAGTCATCCGTAACCAAGAAATTTTGATTCCAACTCACTTCTTTATTGTGCTAACAAGCTGTAAAGATACATCTCAGACGCCTTTGCACTGTGAAAACCTAGACACCTTAGCTTTCATTTTGCCTCACAGGACTGATAACAGCGAGAGCTGTGTGGTAAGTAGCTTTTGTATATTTACTTTGCATGTTGAAAATCTAGACATATGCATATTTGTTTATGTCACCCATCTGACATTACAGTGAGAGAAAGCACAACTGAGTACACATGGACTTCGAAATTATAGGATGCTTTTAAATTTGATCTTTTAAGATGACATATCTTTGGGGAAGACTACCCTTGTCTGCTTTTACTTTTTTCTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTCTTTCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCTTATGATCCTCCTGTCTTGGCCTCCCAAAGTGCTGAGATTGCAGGTGTGAGCCACCCTGCCTGGCCCCTTTGTCTGGTAAAGATACTAAAAATCAGATCAGAATCAAACTTTGTATGGCTTAACCACTAAAGTCTAGGTTTATCTGAGGTATGGATTTTCTCTTTTTTTAAAACTGGATGTATAATTTCAAAGTGTCAGCACTGTTATAAATTAAAGTTGTTAGACAACATTTCAAATTTTCTGTGTATCACTTAATTATAAAAAATCTTTTCCTTTCTTATCGTATTGTCATCCCAGTGTGTTTGGGAATAATTGTTTTATATTATCTTATTTGCTCAGAATTTTAAAAATCTACATTGTAGATTGGGACATCAAGACTGCATAACATTTTAGCAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGGCTCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACCGCAAGCTCCGCCTTCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGGCTTCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTTCTGGGCTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTTGTCCTTCCAAAATGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTTTGGAGTCTTGCTCTGTCACCCAGGCTGGAAGGCAGTGGCGTGATCTCGGCTCCCTGCAACCTCCGCTTCCCGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCACCCATGCCCAGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCGCCGTGTTGGCCAGGCTGTTCTCTACCTCCTGACCTCAGGTGATCTGCTGGCCTTAGCCTCCCAAAGTGCGGGGGTTACAGTCATGAGCCACTGTGCCCGGCCCATTTTAGCAATTTTTAAGTTTTCTCTTATGGTGAGCCAAAATATATTTCTTTCAGAGTACTTCCTACATTTCCTTTTTTTTTTTTTTTCATTGAAGTGACACCAAGTAAGTCTAAACCTGAATCTGCAAAAAGATGTAGCTTTCATACCAGTCCCAATGAATGGGTGGTAGGTACCTGGAGTTAGGATCTTGAGACCCAGTATGAGCTCAGCAGGAAAGAGTGCTGTATCCACTCATTCATTCACTACTACTTTGATTCACCATTCATTCCTTTGATATTTATAATCAGGTGCTCTAGGTACTGAGGACACAGCAGTGAACAAAATAGTGAGCTCTTCTCTGGGCCCAAGAGTAGAATACAATGATCCGTTTGCCATCCCTGATGGTAGTAGTCTTTCTATATATCGTTAAAATTCATGAAGATATGTCTCTCCTTAATTGTTTCTATGATAAACTTTCAGAATTACTTGTTCCTATAGAACACATTTCTCATTATTTTTCCCTTTATTCTTTAGAATTAAATACAGAATAGCAAGATTTTAGTTGGTTGCCTGATGATTATCTGACTCCACTGAAAGTTGTCAGTTTTGTGGGCATTGTTGGAAACATGCAGCTATTCCCTGCTTCATTATTTCGTTTGAGAGATTATATTGTCATTGAATGTATCAATTAGAGTAGGGTTCTGCAGCAAATAACAGAAACCCCTTTGCAGTGGCTTAAGCAAGTCAGGGATTCCTCATGGAACAGCAAGTCCAGCTGCACACAGTCCTGGGATGGCGCTTTGGGTCAACTGCACCATTAGGGACCCAGAACTTTTCCCTCTTTCTGCTCCACCATTCTTAGCATGTGGCTTTGGCCCACGTGGGCTTCTTCATGCATCTTTGTAGGTAACACATTCTCATAAAAACTAGTATTTGTGTAGTACATTTGCACACATCATTACGTTTGATCCTCAAAATAACCCGATGAGGAGGATACAGATAAAGGAATCAAGACTTATATGTTAAATAACTTTCCTTAGTTTACCTGATACGATTGTCACAGAACCAGCCTCTTTTAAAAAAATTTTCAACTTTTAAGTTCAGGGGTACATGTGCAGGATGTGCAGGTTTGTTGCATAGGTAAATGTGTGCCATGGTGGTTTGCTGCACAGATCATCCCGTCACCCAGGTATTAAGCCCAGCATCCATTAGCTATTCTTTCTGATGCTCTCCCTCCTCCCACCCCCTGCCCTCCAACAGGCCCCAGTGTATTTTCTTCCCCCACACGTGTTTATGTGTTCTCATCCTTCAGCTCCCTCTTATAATTGAGAACATGAGGTTTCGATTTTCTGTTTCTGCATTAGTTTGCTAAGGATAATGGCCTCCAGCTCCATCCATGTCCCTGCACAGGACATGATCTTTTATGGCTGCATAGTATTCCATGGTATACATGTACCACATTTTCTTAATTTAGTCTATCATTGACCATATACACCATAGTATTCCATGGTGTGTATGTACCACATTTTCTTGATCCAGTCTATCATTGTTGGGCACTTAAGTTGATTCCATGTCTCTCCTATTGTGAATAGTGCTGCACTGAACATATGCGTGCGTGTATCTGTATAATAGAATGATTTATATTCCTGTGGGTATGTACCCAGTAATGGGATTGCTGGGTCCAGTGGTATTTCTGCCTCTAGGTCTTTGAGGAATTGCCACACTGTCTTCCACAGTGGTTGCACTAATTTACACTCCCACCAACAGTGTAAAAGCATTCCTTTTTCTCCACAACCTTACTAGCTAGCGTCTGTTGTTTTTTGACTTTTTAATAATAGGCATTCTGAGTGATTCTTTACATTATTCAGATATTCTTTCCCATGCCATGTAATTTCTGTTTTCCCCCTTTTTTTAACCCCACGCCATTGAAGTTTCTTAAACCTATGTAATGCAGGACCATCTGTTCCAGGTATAGTTTCTTTTCCCCAAACTTGAAGCATCTAATTAAACAAACATGCATGGTATGTATTAGAAGGAAAGCTACTCAAGAGGAGAGATGATGCCTAACAAATCATGTGGCACGTTCCACTTCAGAGCTGAAATCTCGTAAATGATTAAACTGGGGAGATGGAGCACTTATAGAAGTGAACTGAGTGTTCTCTTGGTAACTTTTCTTTTATATTTCCTATTCTCCTAGCATGGGAAGCATGACTCCTCATGGGTTGAAGAATTGTTAATGTTACACAGAGCACGGATCACAGATGTTGAGCACATCACTGGACTCAGCTTCTATCAACAAAGAAAAGAGCCAGTTTCAGACATTTTAAAGTTGAAAACACATTTGCCAACCTTTAGCCAAGAAGACTGATATGTTTTTTATCCCCAAACACCATGAATCTTTTTGAGAGAACCTTATATTTTATATAGTCCTCTAGCTACACTATTGCATTGTTCAGAAACTGTCGACCAGAGTTAGAACGGAGCCCTCGGTGATGCGGACATCTCAGGGAAACTTGCGTACTCAGCACAGCAGTGGAGAGTGTTCCTGTTGAATCTTGCACATATTTGAATGTGTAAGCATTGTATACATTGATCAAGTTCGGGGGAATAAAGACAGACCACACCTAAAACTGCCTTTCTGCTTCTCTTAAAGGAGAAGTAGCTGTGAACATTGTCTGGATACCAGATATTTGAATCTTTCTTACTATTGGTAATAAACCTTGATGGCATTGGGCAAACAGTAGACTTATAGTAGGGTTGGGGTAGCCCATGTTATGTGACTATCTTTATGAGAATTTTAAAGTGGTTCTGGATATCTTTTAACTTGGAGTTTCATTTCTTTTCATTGTAATCAAAAAAAAAATTAACAGAAGCCAAAATACTTCTGAGACCTTGTTTCAATCTTTGCTGTATATCCCCTCAAAATCCAAGTTATTAATCTTATGTGTTTTCTTTTTAATTTTTTGATTGGATTTCTTTAGATTTAATGGTTCAAATGAGTTCAACTTTGAGGGACGATCTTTGAATATACTTACCTATTATAAAATCTTACTTTGTATTTGTATTTAAAAAAGAAAAATATTCCTATCCTGCTCACTGGTAATTAACATAGGTTTAAAATGGCTTCAAATGTGGCCCTATAGACGGTTAAAATTGTACCTTATCTTGGCAAAACTTCAGAGCACCAGTCAGTGCATGCAAGGTGCCATTTTTTATTGAGATGCTTAGAATGTT	A	A131885765T	ENPP1	NM_006208.3(ENPP1):c.2444+702_*868del	noncoding	Pathogenic
6	131886824	C	CTCT	G131886826C	ENPP1	NM_006208.3(ENPP1):c.2607+101_2607+102insCTT	noncoding	Benign
6	131890395	CG	C	G131890397A	ENPP1	NM_006208.3(ENPP1):c.2664del:p.Ile889fs	coding	Pathogenic
6	133462359	AC	A	C133462361A	EYA4	NM_004100.5(EYA4):c.464del:p.Pro155fs	coding	Pathogenic
6	133462475	A	ACTAC	G133462477T	EYA4	NM_004100.5(EYA4):c.579_580insTACC:p.Asp194fs	coding	Pathogenic
6	133462653	G	GA	G133462655A	EYA4	NM_004100.5(EYA4):c.614dup:p.Ser206fs	coding	Pathogenic
6	133462763	AGGTAAGTAGCTACACATGAAACATGTTTTGGGAGAACTAATTCTTTGAGTGAGACTCATTGGCTTCAGACTAGGAATATCCAATCATGAAGGTAGTTTTAAGCTTTATCACAGCTCACACAATTTCTAAAGAAAGATAACTAGACAGAAACACGATGAAATGGTTGAGTATACGTCAGGAAACATGACCTATACCAAACTTAAATACTTAAGTTTAAGCTGCGTAACATCAGCAGGAAACCAAGTCCAAGCAAAGCAACTCCCAAGCCAGACACCAGGTCAGCCACACATTTGGCGTCTACTTAAGCAATTTAAAAGATCTGTAGCACAAACCAGTATTTTCTTTTCACTCTTCCTGAAGTATGTAATGCTGTTTTGATTATACTTAAACTTGAATTAACTCTTTTCTAAGTTCCATATATTATTGACCAGTTGAGGATTTTTTGTTCATTCCTAAAATTCCTCTCTCCTATTGATACTATATTGCTTAATAGGACTGTTATATAATATTTACTCTCCAATCCTCCATATAGGCATATAGGATCATTAAATTTTTTTAAATTTTAGACTCCTATTAAAATTGTGTTTTATCTTTTTTTTTTTTTTTTTTTTTCTGAGATGCAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTAACTTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGTGACGGGGTTTCACCATGTTGATCAGGCTGGTCTCAAACTCCTGATCTCAGGTGACCCGCCCGCCACGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCATGCCTAGCTGTGTTTTATCTTAATGCAATAGTTGCCAAAAGAATTTTAGTGACATAGTAAAAACTTTAAAAGCTGGTTACTATCTGTCATTTTGTCTGTACTGCAAATCACAAATTTGGGGCTATATTAACATATTTGAACCAACTGGTATGACATTTTGGTCAATTGATTCAAATGAAATAATTACTTAGATATGTTCAGCTGGAATAGCAGTGCTCTTTTTTACCTAGAATGTAGGTTGAAACATATTTGAAAGCATGCTATAGCCACAAAAATTCATACAGCTTCAGTTAGCCATGTGACAGACAGTATTTTTTTTTTTTTCACGAATACTTTCATACTGGTTATTCCAGGTCAGGTCAGTGGCACTGATTACATAATACATTGCTAGTCAAAACACATTGATAAAACAAGTAATCAGCTACCTCAATAGCCTTTCATTTTACTTCTTGACAAGCACATTCCATAAGGACTTTTTTTTTAGGAAACCTGTAATTGGCAGCTCACTTGTTTTTGCCCTGATTTGAGAAATCATTAAATTTCAGACCTTGTAGTAAAGTTTTAGAAGGCCCTCAAACCCTAGATTTGTGTACCATAAACAGTTCTCCCTTGAGTCTGAACCCTAATTCACAGCTATTTTTGTTCTAAAGAAAAGACAAAGGGAACAAAAGTACAAGGAGTTGCTAAATGGGGTTCTGTATGTTTATTTCCCACGCTAAAAACCCTGTACAAATGTTGAACTCAAGTGATTTTTTGTATGTAAATGCAGTTGATATGGTTTGAAAGTTCCAGTAGTTTCCTGGAGGTAGTCTTAGTCTGTGTAAGATTTTATCCTTTGCATACCCCTGCACTTCTAGACTCTTAACCCTTGAATGTTGGCCTCACTCCTTATGAAGACTGTTCCCATGTGCTTCTGTTTAGCTCAACAGATTCAATAGGAAAGGGTTTACCAGCTGTTACAAGAGGGAGAGAGCTAAGCCTATTTTCTGTATAAATGTCTCAACTTCAAATTTCACTGTCTTCACGACAAATTTCAAAGTGTTTCTCTCACAGAATTCTGCAAAGTGAAATATCTTTATCATTTTACAAGGAATACTTTTAAAATGCAATTTGTTTTTTACCTCTAGGTTCTAGTTTTGCACCATCATCTACTATTTATGCAAATAATTCAGTTTCCAATTCAACGAATTTCAGTGGTTCACAACAGGTATAGTAGCTTTTTGTGTTTATGCTTTTTATATGTATTTCAGATTTTTGAAGAGTACTCTCAGGTTGCCATATATGTGCATACTCTCCCAGAATAAGGTTTCTTTATTTAAAAATTATGATAGCATTTCAGGATAGTAAAAAATTAGCTATCTAGAATTCTTGGAATATGCATTATTCTGGCTATTTTAGATTTTTTGATTGCTAAAGGTTTGTGCTTTAAACATTTATGCTGTAGTTGTTTTAATCATTTGGCATGGAATTACAAAATGTATTGGATATTTTGCTATCTTAAAATATACTAAGAACAATTTTATTTTTCTTGATAAAGCAGTTATTATAATGAATATTAATTGGTTGAATCAATATTAATTGATTAAAATAAGTCATAGGATTATACTACAGACTATATAACATTTTCAGTCCTAAAAAGTGTCCTTTGTTACTAAACAAAATGCCTCAAAGACTACTGTTGGCTTTTAAATAATTTTTCTGTTTTTTAGTTTTATGAATACTTTTAATAAATGTTTGATTCCCACTTTCCTGACAGCTGCAACTTTTTGCTTTTGTCACTGTGCCTGCCTCTGGTAGTCTTTAGTCCTCCTTCTAATTATGTTTTCTTAATATTTTTGTGAGTTTTAAAATCTAGCATGTTAGAATTATGCATGAAGCAAGAGTGAATGTCCCTGAATAAGTAAATCAGCTCGGAGTGAGATGAATTCGTGATATATGTTGACACTTCCAAATCTTTTGTCCTTATTTTTTGATTTTCAGCCATGTTCGAAGTAGTTGAGATTGAAGAGTTAGTGGCTGACTTCTGGTCTGGCAATACACTATTTTACTTTAGTATAGTTGCTAGACACTTATATATTCTAAAATGTAAGTTACTGTACAAGTGCTTACTTTTTAGATTTACTGAAGGAATTTTATCAATTGCTTTATTTTAGTTTTATTGATATCACAAAAGGCAGAAAGGAAATTTTGATCATTAAAATCGTGTGGAATAATAATATTTTTGATAGGATTAAACGGTGTAATTTAGCATTAGGAAAATGATGTCTTAAAACACTAAACATCAGAGCCAGTGTATACATTTTATTTTTTAAAATTGAGGTTTTTTTTGTAACTTGATTTTATGCATTTATTTATTGGTCCAGCAAGCATTTATTGAGCACTTGCTATATGTTAGATTTTTGGCTAGGGATTGAAGATTCAAAACGAGTAACTCATTGTTCCCTGCTCTTTAGAAGGATTCAGTCCTCCGAAAGAAACAAATATGAAAATAAGATGGACAGAGGGTGGGATGGGATATAGTGAATATAATAACAGAAATATACACTAGGCAGAGTTGTACTATAAAGGAAAAACTGCTCTGCCTCTATTTGGGAGGATTAAGAAAAGATTTGTAAAGGAAAAGAGCATTTATTTGAAAAGAGTTAATCATAGAACAGATCTGATTCTCTGTGAAGATTTAAATATAGTGGATCCCAATGTAAAATGTAATCTGTATTTGGGACCATGGCCTGAGCACCAGTTTGTTGTTTTGGCTCATACCTATTGAGTGCCCATAAAGTGTTAGGAATTGGTCTGTATACTGGGGCACACGAAGGTGGGGCTGGAGTAGATCAGATCTGATTCCTGCCTCATAGAGCTTACAGCCTACTGGGACAAACATACAATAAACCAGTAAACACACAAATAAATGCAGAATTAGAAAGAGAACAGGGCCTGCGAAAACATCAACTGAATATAATTTTGAATAGGGGAGGTTTTATATAAGGCTTCTCTATGGAAACCACATTTAGGCCAAGACTTCTAAGAGTTAGGTGAAGAAGGAGGGCAGTGGTGTTTCAGGCAAAGAAAGCAGAGTGTACCAAATCCCCAATGGATGGAAAACTTGGTGTGTCACTGAACTTAAAAAAAAAAAAAAGGCTGGAGTTCAGTTAGTGCATGAGGGGGAAGTGGGGAAGCACATTTGCAGAGATAGGCGGGGGCCTGCTCACGTAAGGCCTGGTGGTTTACAATAAGGAATTTGGATTCTATTCCAAGCCCAGTGGGAGGCTATGATAGCATTTTGAGCAAGAAAATTACATCATTTAATTTATGTTTTGAGACGATAACTCTGCCACCAAGGTCTTTGGAGAAAGTCAGAAATGGAAACGAGGAGATAAATTTAAAAATGAATACATTGCCTGCAACAGGAAGAAAAGGTAGTTTGGACAAGGGGGCGACAGTGGAAATGAAAAGAAAGTGAGATCTTTGAGATATGTTTGAATATGAAAAGACATTATATTCCCCAGTGGGGAATAGCCTGGACCTTTCCAGTATGTAACCTCATCCTCTTCTGCAGGAATTAGTAGGCTAACAGAGAGCTTCAGCACAGATGTTTGACTTAGGCACTCTGGGTTTAAATTCTAGCTCTGAAACTTACTAGCTGTGTGACTTTGTGCAAATCACTTAACCACTCTGTGCCTTAGTCCCCTTCAAAGTAAAATGAATATAGTATTAAGACCACATAAGAGAGTATAAGGATTAAATGAGTAAATATATCTGAGCCCTTAGAACAGTGCTTTGATACAGAGTAAGCACTATGTAAACATTTGCTACCACTGTTTTACTCTGAGAGATATTGGTAGGAACTTTGTTTAAATATGATGAGGTTTTTGTTCTTGGCTCACAAGTTACAGTAGTGGGAAACATTGGATCTTGAAATTTTCAGACTAATAGAATTTTAGTTTTCTGCCATATTACT	A	G133462764T	EYA4	NM_004100.5(EYA4):c.724_805-957del	coding	Pathogenic
6	133464764	GT	G	T133464770A	EYA4	NM_004100.5(EYA4):c.725-9del	noncoding	Benign
6	133464859	GT	G	T133464860A	EYA4	NM_004100.5(EYA4):c.804+2del	coding	Pathogenic
6	133481517	G	GAA	C133481520A	EYA4	NM_004100.5(EYA4):c.1026_1027dup:p.Thr343fs	coding	Pathogenic
6	133481538	C	CAA	G133481542A	EYA4	NM_004100.5(EYA4):c.1048_1049dup:p.Arg352fs	coding	Pathogenic
6	133483035	G	GTGTT	C133483043T	EYA4	NM_004100.5(EYA4):c.1115_1118dup:p.Trp374fs	coding	Pathogenic
6	133506107	AT	A	T133506108C	EYA4	NM_004100.5(EYA4):c.1194del:p.Met401fs	coding	Pathogenic
6	133506145	GA	G	A133506148T	EYA4	NM_004100.5(EYA4):c.1234del:p.Glu411_Met412insTer	coding	Pathogenic
6	133515622	AGT	A	G133515655T	EYA4	NM_004100.5(EYA4):c.1616+188GT[16]	noncoding	Benign
6	133515622	AGTGT	A	G133515653T	EYA4	NM_004100.5(EYA4):c.1616+188GT[15]	noncoding	Benign
6	133515622	AGTGTGT	A	G133515651T	EYA4	NM_004100.5(EYA4):c.1616+188GT[14]	noncoding	Benign
6	133515622	AGTGTGTGT	A	G133515649T	EYA4	NM_004100.5(EYA4):c.1616+188GT[13]	noncoding	Benign
6	133523467	TTTAA	T	A133523471G	EYA4	NM_004100.5(EYA4):c.1738+294_1738+297del	noncoding	Benign
6	135300325	CA	C	A135300340G	AHI1	NM_001134831.2(AHI1):c.3485+174del	noncoding	Benign
6	135300338	AAAG	A	G135300341A	AHI1	NM_001134831.2(AHI1):c.3485+159_3485+161del	noncoding	Benign
6	135300340	AG	A	G135300341A	AHI1	NM_001134831.2(AHI1):c.3485+159del	noncoding	Benign
6	135300816	C	CA	T135300835A	AHI1	NM_001134831.2(AHI1):c.3427-276dup	noncoding	Benign
6	135323186	G	GA	T135323191A	AHI1	NM_001134831.2(AHI1):c.3303dup:p.Pro1102fs	coding	Pathogenic
6	135387756	T	TA	T135387768A	AHI1	NM_001134831.2(AHI1):c.3109+7009dup	noncoding	Benign
6	135388070	T	TA	C135388076A	AHI1	NM_001134831.2(AHI1):c.3109+6701dup	noncoding	Benign
6	135394825	G	GT	G135394829T	AHI1	NM_001134831.2(AHI1):c.3059dup:p.Asn1020fs	coding	Pathogenic/Likely_pathogenic
6	135394906	GA	G	A135394910C	AHI1	NM_001134831.2(AHI1):c.2989-11del	noncoding	Benign
6	135404968	G	GT	A135404970T	AHI1	NM_001134831.2(AHI1):c.2970dup:p.Arg991fs	coding	Pathogenic
6	135411341	A	AGTC	A135411342G	AHI1	NM_001134831.2(AHI1):c.2961+6_2961+7insGAC	noncoding	Benign/Likely_benign
6	135428756	TA	T	A135428758T	AHI1	NM_001134831.2(AHI1):c.2495del:p.Ile831_Leu832insTer	coding	Pathogenic
6	135430011	TA	T	A135430019T	AHI1	NM_001134831.2(AHI1):c.2374-12del	noncoding	Benign/Likely_benign
6	135431320	T	TA	T135431328A	AHI1	NM_001134831.2(AHI1):c.2267-13dup	noncoding	Benign
6	135433059	CT	C	T135433063G	AHI1	NM_001134831.2(AHI1):c.2233del:p.Ser745fs	coding	Pathogenic
6	135438427	AG	A	G135438429A	AHI1	NM_001134831.2(AHI1):c.1983del:p.Trp662fs	coding	Pathogenic
6	135442593	T	TA	T135442595A	AHI1	NM_001134831.2(AHI1):c.1900dup:p.Tyr634fs	coding	Pathogenic
6	135442691	GTGTT	G	T135442698G	AHI1	NM_001134831.2(AHI1):c.1799_1802del:p.Lys600fs	coding	Pathogenic
6	135453360	AT	A	T135453364C	AHI1	NM_001134831.2(AHI1):c.1420del:p.Ile474fs	coding	Pathogenic
6	135453407	AATTTC	A	T135453410C	AHI1	NM_001134831.2(AHI1):c.1369_1373del:p.Asp456_Glu457insTer	coding	Pathogenic
6	135455835	AT	A	T135455839A	AHI1	NM_001134831.2(AHI1):c.1242del:p.Lys414fs	coding	Pathogenic
6	135455872	AG	A	G135455874A	AHI1	NM_001134831.2(AHI1):c.1205del:p.Pro402fs	coding	Pathogenic/Likely_pathogenic
6	135455932	C	CA	G135455940A	AHI1	NM_001134831.2(AHI1):c.1152-7dup	noncoding	Benign/Likely_benign
6	135457550	C	CA	T135457552A	AHI1	NM_001134831.2(AHI1):c.1094dup:p.Met365fs	coding	Pathogenic
6	135457725	GA	G	A135457734T	AHI1	NM_001134831.2(AHI1):c.932-13del	noncoding	Benign
6	135457725	G	GA	T135457735A	AHI1	NM_001134831.2(AHI1):c.932-21dup	noncoding	Benign
6	135463155	GT	G	T135463158A	AHI1	NM_001134831.2(AHI1):c.900del:p.Lys300fs	coding	Pathogenic
6	135465929	GTTTC	G	T135465936A	AHI1	NM_001134831.2(AHI1):c.630_633del:p.Lys210fs	coding	Pathogenic/Likely_pathogenic
6	135466028	CTT	C	T135466029C	AHI1	NM_001134831.2(AHI1):c.533_534del:p.Glu178fs	coding	Pathogenic
6	135466286	TC	T	C135466287T	AHI1	NM_001134831.2(AHI1):c.276del:p.Ser93fs	coding	Pathogenic
6	136822720	G	GGCTACGCCGCC	A136822733C	PEX7	NM_000288.4(PEX7):c.57_67dup:p.Glu23fs	coding	Pathogenic
6	136825197	AT	A	T136825205C	PEX7	NM_000288.4(PEX7):c.131-9del	noncoding	Benign
6	136826422	GC	G	C136826424A	PEX7	NM_000288.4(PEX7):c.294del:p.Ala100fs	coding	Pathogenic
6	136845636	CA	C	A136845639C	PEX7	NM_000288.4(PEX7):c.364del:p.Thr122fs	coding	Pathogenic
6	136846124	ATTAT	A	T136846129A	PEX7	NM_000288.4(PEX7):c.474_477del:p.Tyr159fs	coding	Pathogenic
6	136846170	CT	C	T136846172C	PEX7	NM_000288.4(PEX7):c.517del:p.Ser173fs	coding	Pathogenic
6	136866643	AAT	A	A136866646G	PEX7	NM_000288.4(PEX7):c.546_547del:p.Ile182fs	coding	Pathogenic
6	136870016	CT	C	T136870020C	PEX7	NM_000288.4(PEX7):c.747+17del	noncoding	Benign
6	136870021	CTTTTA	C	T136870023A	PEX7	NM_000288.4(PEX7):c.747+20_747+24del	noncoding	Benign
6	136871992	A	AAT	T136871997A	PEX7	NM_000288.4(PEX7):c.748-205AT[3]	noncoding	Benign
6	136898195	CAG	C	A136898198T	PEX7	NM_000288.4(PEX7):c.860_861del:p.Glu287fs	coding	Pathogenic
6	137200936	TA	T	A137200941C	IFNGR1	NM_000416.3(IFNGR1):c.805del:p.Tyr269fs	coding	Pathogenic
6	137200960	AG	A	G137200961C	IFNGR1	NM_000416.3(IFNGR1):c.781del:p.Ser262fs	coding	Pathogenic
6	137203733	G	GA	T137203748A	IFNGR1	NM_000416.3(IFNGR1):c.547-62dup	noncoding	Benign
6	137206319	TA	T	A137206326T	IFNGR1	NM_000416.3(IFNGR1):c.201-12del	noncoding	Benign
6	137207050	TCA	T	C137207051A	IFNGR1	NM_000416.3(IFNGR1):c.111_112del:p.Glu38fs	coding	Pathogenic
6	137219168	G	GGCTTCCCGGCTGGGGCGGA	T137219188G	IFNGR1	NM_000416.3(IFNGR1):c.85+56_85+74dup	noncoding	Benign
6	137871312	AT	A	T137871317A	TNFAIP3	NM_001270508.2(TNFAIP3):c.90del:p.Phe30fs	coding	Pathogenic
6	137871329	TG	T	G137871332A	TNFAIP3	NM_001270508.2(TNFAIP3):c.105del:p.Ile36fs	coding	Pathogenic
6	137871343	AT	A	T137871347A	TNFAIP3	NM_001270508.2(TNFAIP3):c.120del:p.Phe40fs	coding	Pathogenic
6	137871450	G	GCC	A137871453C	TNFAIP3	NM_001270508.2(TNFAIP3):c.224_225dup:p.Thr76fs	coding	Pathogenic
6	137874824	TCTC	T	C137874830T	TNFAIP3	NM_001270508.2(TNFAIP3):c.296-15_296-13del	noncoding	Benign
6	137875013	C	CG	C137875018G	TNFAIP3	NM_001270508.2(TNFAIP3):c.468dup:p.Leu157fs	coding	Pathogenic
6	137877234	ACTCAT	A	T137877241A	TNFAIP3	NM_001270508.2(TNFAIP3):c.971_975del:p.Leu324fs	coding	Pathogenic
6	137878536	GGA	G	A137878542G	TNFAIP3	NM_001270508.2(TNFAIP3):c.1097_1098del:p.Glu366fs	coding	Pathogenic
6	137878789	GA	G	A137878791C	TNFAIP3	NM_001270508.2(TNFAIP3):c.1346del:p.Asn449fs	coding	Pathogenic
6	137879168	T	TC	G137879173C	TNFAIP3	NM_001270508.2(TNFAIP3):c.1727dup:p.His577fs	coding	Pathogenic
6	137879347	CAA	C	A137879349C	TNFAIP3	NM_001270508.2(TNFAIP3):c.1904_1905del:p.Lys635fs	coding	Pathogenic
6	138107228	GA	G	A138107229C	PERP	NM_022121.5(PERP):c.112del:p.Ser38fs	coding	Pathogenic
6	138905135	GA	G	A138905140G	REPS1	NM_001286611.2(REPS1):c.2323-4del	noncoding	Benign
6	139373365	CGCCGCT	C	C139373367T	CITED2	NM_006079.5(CITED2):c.574_579del:p.Ser192_Gly193del	coding	Benign
6	139373408	AGAGCCGCCGGGGGTGCTGCTGCCGCCC	A	C139373435G	CITED2	NM_006079.5(CITED2):c.510_536del:p.163GSSTPGGSG[1]	coding	Pathogenic
6	142400321	AT	A	T142400332A	ADGRG6	NM_198569.3(ADGRG6):c.1568-153del	noncoding	Benign
6	142403007	GT	G	T142403018G	ADGRG6	NM_198569.3(ADGRG6):c.1955+188del	noncoding	Benign
6	142417177	CTTCTT	C	T142417181A	ADGRG6	NM_198569.3(ADGRG6):c.2939-92_2939-88del	noncoding	Benign
6	142753820	CAT	C	T142753822G	HIVEP2	NM_006734.4(HIVEP2):c.6626_6627del:p.Tyr2209fs	coding	Pathogenic
6	142760431	C	CG	C142760434G	HIVEP2	NM_006734.4(HIVEP2):c.5856dup:p.Val1953fs	coding	Pathogenic
6	142760496	G	GT	G142760502T	HIVEP2	NM_006734.4(HIVEP2):c.5791dup:p.Thr1931fs	coding	Pathogenic
6	142761579	CA	C	A142761587G	HIVEP2	NM_006734.4(HIVEP2):c.5519-15del	noncoding	Benign
6	142771884	CCT	C	C142771885G	HIVEP2	NM_006734.4(HIVEP2):c.2853_2854del:p.Glu953fs	coding	Pathogenic
6	142774261	GGT	G	G142774262T	HIVEP2	NM_006734.4(HIVEP2):c.476_477del:p.Asn159fs	coding	Pathogenic
6	143463010	T	TA	C143463012A	PEX3	NM_003630.3(PEX3):c.287+14dup	noncoding	Benign
6	143470941	C	CT	C143470946T	PEX3	NM_003630.3(PEX3):c.332-16dup	noncoding	Benign
6	143471575	C	CT	G143471577T	PEX3	NM_003630.3(PEX3):c.543dup:p.Val182fs	coding	Pathogenic
6	143471781	CTT	C	T143471789A	PEX3	NM_003630.3(PEX3):c.578+178_578+179del	noncoding	Benign
6	143472520	AT	A	T143472524A	PEX3	NM_003630.3(PEX3):c.747+196del	noncoding	Benign
6	144187179	T	TA	G144187182A	STX11	NM_003764.4(STX11):c.554dup:p.Trp186fs	coding	Pathogenic
6	144187222	GGCGC	G	C144187226G	STX11	NM_003764.4(STX11):c.599_602del:p.Ala200fs	coding	Pathogenic
6	144521953	A	AT	A144521955T	UTRN	NM_007124.3(UTRN):c.5542-26dup	noncoding	Benign
6	144551136	GAC	G	C144551168A	UTRN	NM_007124.3(UTRN):c.6928+55AC[15]	noncoding	Benign
6	144557429	G	GTATTT	T144557436A	UTRN	NM_007124.3(UTRN):c.7289+120_7289+124dup	noncoding	Benign
6	144700353	C	CG	C144700354G	UTRN	NM_007124.3(UTRN):c.7809+110_7809+111insG	noncoding	Benign
6	144803261	AT	A	T144803271C	UTRN	NM_007124.3(UTRN):c.9357+124del	noncoding	Benign
6	145627477	C	CG	C145627481G	EPM2A	NM_005670.4(EPM2A):c.934dup:p.Arg312fs	coding	Pathogenic
6	145627620	CACGT	GTGGGCAGAAGGG	C145627620G	EPM2A	NM_005670.4(EPM2A):c.788_792delinsCCCTTCTGCCCAC:p.Tyr263fs	coding	Pathogenic
6	145627620	C	CACGT	A145627627G	EPM2A	NM_005670.4(EPM2A):c.788_791dup:p.His265fs	coding	Pathogenic
6	145627652	C	CTGCAT	A145627653T	EPM2A	NM_005670.4(EPM2A):c.759_760insATGCA:p.Ala254fs	coding	Pathogenic
6	145686275	CG	C	G145686277T	EPM2A	NM_005670.4(EPM2A):c.322del:p.Arg108fs	coding	Pathogenic
6	145735359	GCCGCGGTGCCGGCCGGCCTCAGGCGGACGGCA	G	G145735365C	EPM2A	NM_005670.4(EPM2A):c.108_139del:p.Ala37fs	coding	Pathogenic
6	146159604	TTCTCTCTCTCTCTC	T	T146159629A	GRM1	NM_001278064.2(GRM1):c.950+8TC[12]	noncoding	Benign
6	146159604	TTCTCTCTCTC	T	T146159633A	GRM1	NM_001278064.2(GRM1):c.950+8TC[14]	noncoding	Benign
6	146159604	TTCTCTC	T	T146159637A	GRM1	NM_001278064.2(GRM1):c.950+8TC[16]	noncoding	Benign
6	146159604	TTCTC	T	T146159639A	GRM1	NM_001278064.2(GRM1):c.950+8TC[17]	noncoding	Benign
6	146159604	TTC	T	T146159641A	GRM1	NM_001278064.2(GRM1):c.950+8TC[18]	noncoding	Benign
6	146159604	T	TTCTC	A146159643T	GRM1	NM_001278064.2(GRM1):c.950+8TC[21]	noncoding	Benign/Likely_benign
6	146357817	G	GT	G146357822T	GRM1	NM_001278064.2(GRM1):c.1602+127dup	noncoding	Benign
6	146399751	TTC	T	C146399773T	GRM1	NM_001278064.2(GRM1):c.2660+53TC[10]	noncoding	Benign
6	146434991	TC	T	C146434993A	GRM1	NM_001278064.2(GRM1):c.*197del	noncoding	Benign
6	148343106	T	TGAGCCC	G148343124C	SASH1	NM_015278.5(SASH1):c.45CGAGCC[3]:p.12EP[7]	coding	Benign
6	148471386	CTT	C	T148471412A	SASH1	NM_015278.5(SASH1):c.428-5_428-4del	noncoding	Benign
6	148471386	CTTT	C	T148471411A	SASH1	NM_015278.5(SASH1):c.428-6_428-4del	noncoding	Benign
6	148471386	CTTTT	C	T148471410A	SASH1	NM_015278.5(SASH1):c.428-7_428-4del	noncoding	Benign
6	148487918	G	GT	A148487933T	SASH1	NM_015278.5(SASH1):c.729+217dup	noncoding	Benign
6	148514546	A	AAGGGAT	C148514554G	SASH1	NM_015278.5(SASH1):c.862+92_862+97dup	noncoding	Benign
6	148525021	T	TA	T148525030A	SASH1	NM_015278.5(SASH1):c.1210-262dup	noncoding	Benign
6	149369892	T	TTTTC	A149369905T	TAB2	NM_001292034.3(TAB2):c.-89-16TTTC[4]	noncoding	Benign
6	149370155	AT	A	T149370157G	TAB2	NM_001292034.3(TAB2):c.102+58del	noncoding	Benign
6	149377814	TAGTC	T	T149377817A	TAB2	NM_001292034.3(TAB2):c.103-201_103-198del	noncoding	Benign
6	149378581	TG	T	G149378583T	TAB2	NM_001292034.3(TAB2):c.668del:p.Gly223fs	coding	Pathogenic
6	149379029	AG	A	G149379030C	TAB2	NM_001292034.3(TAB2):c.1115del:p.Ser372fs	coding	Pathogenic
6	149379252	ACT	A	C149379255G	TAB2	NM_001292034.3(TAB2):c.1340_1341del:p.Ser447fs	coding	Pathogenic
6	149379311	A	AT	A149379314T	TAB2	NM_001292034.3(TAB2):c.1398dup:p.Thr467fs	coding	Pathogenic
6	149379320	TC	T	C149379321T	TAB2	NM_001292034.3(TAB2):c.1406del:p.Ser469fs	coding	Pathogenic
6	149397441	CA	C	A149397456T	TAB2	NM_001292034.3(TAB2):c.1604-148del	noncoding	Benign
6	149397718	CT	C	T149397719C	TAB2	NM_001292034.3(TAB2):c.1719del:p.Arg574fs	coding	Pathogenic
6	151404858	C	CATTT	T151404875A	RMND1	NM_017909.4(RMND1):c.*361AAAT[5]	noncoding	Benign
6	151405798	TGTTA	T	A151405802C	RMND1	NM_017909.4(RMND1):c.1235_1238del:p.Leu412fs	coding	Pathogenic
6	151417492	CT	C	T151417504G	RMND1	NM_017909.4(RMND1):c.1080-94del	noncoding	Benign
6	151422273	CTATT	C	T151422276C	RMND1	NM_017909.4(RMND1):c.1002+264_1002+267del	noncoding	Benign
6	151422610	G	GA	T151422618A	RMND1	NM_017909.4(RMND1):c.938-6dup	noncoding	Benign/Likely_benign
6	151423627	GT	G	T151423628C	RMND1	NM_017909.4(RMND1):c.834del:p.Gln279fs	coding	Pathogenic
6	151423851	C	CT	G151423868T	RMND1	NM_017909.4(RMND1):c.831-236dup	noncoding	Benign
6	151423851	CT	C	T151423867G	RMND1	NM_017909.4(RMND1):c.831-221del	noncoding	Benign
6	151427375	CA	C	A151427390G	RMND1	NM_017909.4(RMND1):c.830+106del	noncoding	Benign
6	151427479	TACTC	T	A151427480T	RMND1	NM_017909.4(RMND1):c.829_830+2del	noncoding	Pathogenic
6	151445724	AC	A	C151445725A	RMND1	NM_017909.4(RMND1):c.87del:p.Met29fs	coding	Pathogenic
6	151804095	C	CAA	G151804096A	ESR1	NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA	noncoding	Benign
6	151808410	A	AGGAG	A151808435G	ESR1	NM_000125.4(ESR1):c.452+47GGAG[7]	noncoding	Benign
6	151944147	A	AT	C151944157T	ESR1	NM_000125.4(ESR1):c.761-17dup	noncoding	Benign
6	152011524	AG	A	G152011525T	ESR1	NM_000125.4(ESR1):c.1097-131del	noncoding	Benign
6	152012017	T	TACACACACAC	T152012048A	ESR1	NM_000125.4(ESR1):c.1235+224AC[20]	noncoding	Benign
6	152012017	T	TACACACAC	T152012048A	ESR1	NM_000125.4(ESR1):c.1235+224AC[19]	noncoding	Benign
6	152012017	T	TACACAC	T152012048A	ESR1	NM_000125.4(ESR1):c.1235+224AC[18]	noncoding	Benign
6	152012017	T	TACAC	T152012048A	ESR1	NM_000125.4(ESR1):c.1235+224AC[17]	noncoding	Benign
6	152012017	T	TAC	T152012048A	ESR1	NM_000125.4(ESR1):c.1235+224AC[16]	noncoding	Benign
6	152141037	AAAAC	A	A152141048C	SYNE1	NM_182961.4(SYNE1):c.25246+154GTTT[2]	noncoding	Benign
6	152213903	TAAAA	T	A152213906G	SYNE1	NM_182961.4(SYNE1):c.22347-148_22347-145del	noncoding	Benign
6	152218437	TAA	T	A152218449T	SYNE1	NM_182961.4(SYNE1):c.22045-36_22045-35del	noncoding	Benign
6	152218437	TA	T	A152218450T	SYNE1	NM_182961.4(SYNE1):c.22045-35del	noncoding	Benign
6	152218437	T	TA	T152218451A	SYNE1	NM_182961.4(SYNE1):c.22045-47dup	noncoding	Benign
6	152221550	CT	C	T152221552G	SYNE1	NM_182961.4(SYNE1):c.21531del:p.Asp7178fs	coding	Pathogenic
6	152231784	A	ATGTG	A152231804G	SYNE1	NM_182961.4(SYNE1):c.20863-235CA[11]	noncoding	Benign
6	152231784	A	ATGTGTG	A152231804G	SYNE1	NM_182961.4(SYNE1):c.20863-235CA[12]	noncoding	Benign
6	152231786	G	GTGTGTGTA	G152231794A	SYNE1	NM_182961.4(SYNE1):c.20863-220_20863-219insACACACAT	noncoding	Benign
6	152231788	G	GTGTGTA	G152231794A	SYNE1	NM_182961.4(SYNE1):c.20863-222_20863-221insACACAT	noncoding	Benign
6	152231802	G	GTATA	T152231814A	SYNE1	NM_182961.4(SYNE1):c.20863-245TA[7]	noncoding	Benign
6	152231802	G	GTGTA	A152231804G	SYNE1	NM_182961.4(SYNE1):c.20863-236_20863-235insATAC	noncoding	Benign
6	152236498	A	AT	G152236509T	SYNE1	NM_182961.4(SYNE1):c.20200-205dup	noncoding	Benign
6	152236836	TC	T	C152236837A	SYNE1	NM_182961.4(SYNE1):c.20179del:p.Asp6727fs	coding	Pathogenic
6	152254905	CT	C	T152254908C	SYNE1	NM_182961.4(SYNE1):c.19444del:p.Arg6482fs	coding	Pathogenic
6	152256431	A	AAAATAAAT	G152256469A	SYNE1	NM_182961.4(SYNE1):c.19104+167ATTT[11]	noncoding	Benign
6	152256431	A	AAAAT	G152256469A	SYNE1	NM_182961.4(SYNE1):c.19104+167ATTT[10]	noncoding	Benign
6	152256431	AAAAT	A	A152256465G	SYNE1	NM_182961.4(SYNE1):c.19104+167ATTT[8]	noncoding	Benign
6	152256431	AAAATAAAT	A	A152256461G	SYNE1	NM_182961.4(SYNE1):c.19104+167ATTT[7]	noncoding	Benign
6	152256690	CAG	TC	C152256690T	SYNE1	NM_182961.4(SYNE1):c.19046_19048delinsGA:p.Ser6349_Ala6350delinsTer	coding	Pathogenic
6	152268388	T	TAAA	C152268405A	SYNE1	NM_182961.4(SYNE1):c.18706-239_18706-237dup	noncoding	Benign
6	152268388	T	TAA	C152268405A	SYNE1	NM_182961.4(SYNE1):c.18706-239_18706-238dup	noncoding	Benign
6	152268388	T	TA	C152268405A	SYNE1	NM_182961.4(SYNE1):c.18706-239dup	noncoding	Benign
6	152269421	T	TA	C152269430A	SYNE1	NM_182961.4(SYNE1):c.18574-136dup	noncoding	Benign
6	152284040	CAGTG	C	T152284043C	SYNE1	NM_182961.4(SYNE1):c.18141_18144del:p.Thr6048fs	coding	Pathogenic
6	152293724	TAGAG	T	A152293725T	SYNE1	NM_182961.4(SYNE1):c.17872_17875del:p.Leu5958fs	coding	Pathogenic
6	152300679	GGGAGCGACAGGCAGGT	G	C152300684A	SYNE1	NM_182961.4(SYNE1):c.17628_17643del:p.Pro5877fs	coding	Pathogenic
6	152310121	CA	C	A152310134T	SYNE1	NM_182961.4(SYNE1):c.17020-105del	noncoding	Benign
6	152310667	CT	C	T152310677C	SYNE1	NM_182961.4(SYNE1):c.16896+20del	noncoding	Benign
6	152317234	C	CT	C152317249T	SYNE1	NM_182961.4(SYNE1):c.16573-249dup	noncoding	Benign
6	152322008	AC	A	C152322009A	SYNE1	NM_182961.4(SYNE1):c.15918-123del	noncoding	Benign
6	152323710	GATCA	G	A152323715T	SYNE1	NM_182961.4(SYNE1):c.15681_15684del:p.Asp5228fs	coding	Pathogenic
6	152325858	GA	G	A152325864G	SYNE1	NM_182961.4(SYNE1):c.15438+99del	noncoding	Benign
6	152330406	TG	T	G152330407A	SYNE1	NM_182961.4(SYNE1):c.14278del:p.His4760fs	coding	Pathogenic
6	152330480	CT	C	T152330481G	SYNE1	NM_182961.4(SYNE1):c.14204del:p.Gln4735fs	coding	Pathogenic
6	152330716	CAACAATTACATTA	C	C152330719T	SYNE1	NM_182961.4(SYNE1):c.13956_13968del:p.Phe4652fs	coding	Pathogenic
6	152334425	G	GA	T152334430A	SYNE1	NM_182961.4(SYNE1):c.12529-153dup	noncoding	Benign
6	152337291	AT	A	T152337306G	SYNE1	NM_182961.4(SYNE1):c.12352-275del	noncoding	Benign
6	152344329	TC	T	C152344335A	SYNE1	NM_182961.4(SYNE1):c.12079-103del	noncoding	Benign
6	152347162	CCAAT	C	T152347166A	SYNE1	NM_182961.4(SYNE1):c.11971_11974del:p.Ile3991fs	coding	Pathogenic
6	152350784	G	GAA	T152350794A	SYNE1	NM_182961.4(SYNE1):c.11581-16_11581-15dup	noncoding	Benign
6	152352408	C	CT	G152352421T	SYNE1	NM_182961.4(SYNE1):c.11254-67dup	noncoding	Benign
6	152353310	CA	C	A152353312T	SYNE1	NM_182961.4(SYNE1):c.11205del:p.Ile3735fs	coding	Pathogenic
6	152358643	CATT	C	T152358645G	SYNE1	NM_182961.4(SYNE1):c.10444-109_10444-107del	noncoding	Benign
6	152359629	G	GGTGTGT	A152359654G	SYNE1	NM_182961.4(SYNE1):c.10300-195AC[15]	noncoding	Benign
6	152364686	GAGGA	G	A152364726G	SYNE1	NM_182961.4(SYNE1):c.10145+121TCCT[9]	noncoding	Benign
6	152364686	G	GAGGAAGGAAGGA	G152364730A	SYNE1	NM_182961.4(SYNE1):c.10145+121TCCT[13]	noncoding	Benign
6	152364686	G	GAGGAAGGA	G152364730A	SYNE1	NM_182961.4(SYNE1):c.10145+121TCCT[12]	noncoding	Benign
6	152364686	G	GAGGA	G152364730A	SYNE1	NM_182961.4(SYNE1):c.10145+121TCCT[11]	noncoding	Benign
6	152364726	A	AAGGAAGGG	G152364730A	SYNE1	NM_182961.4(SYNE1):c.10145+120_10145+121insCCTCCCTT	noncoding	Benign
6	152367579	CA	C	A152367589G	SYNE1	NM_182961.4(SYNE1):c.9808-198del	noncoding	Benign
6	152367579	C	CA	G152367590A	SYNE1	NM_182961.4(SYNE1):c.9808-207dup	noncoding	Benign
6	152386794	TTAAC	T	C152386798A	SYNE1	NM_182961.4(SYNE1):c.8487+274_8487+277del	noncoding	Benign
6	152391580	GA	G	A152391594G	SYNE1	NM_182961.4(SYNE1):c.7713-13del	noncoding	Benign
6	152391585	A	AAAAAAAG	A152391592G	SYNE1	NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTC	noncoding	Benign/Likely_benign
6	152391591	AAAAG	A	G152391595A	SYNE1	NM_182961.4(SYNE1):c.7713-27_7713-24del	noncoding	Benign
6	152391592	AAAG	A	G152391595A	SYNE1	NM_182961.4(SYNE1):c.7713-27_7713-25del	noncoding	Benign
6	152399767	A	AT	C152399772T	SYNE1	NM_182961.4(SYNE1):c.7085dup:p.Asn2362fs	coding	Pathogenic
6	152400867	G	GA	C152400877A	SYNE1	NM_182961.4(SYNE1):c.7029+262dup	noncoding	Benign
6	152404104	G	GATATATAT	C152404118T	SYNE1	NM_182961.4(SYNE1):c.6825+97AT[10]	noncoding	Benign
6	152404104	G	GATATAT	C152404118T	SYNE1	NM_182961.4(SYNE1):c.6825+97AT[9]	noncoding	Benign
6	152404104	G	GATAT	C152404118T	SYNE1	NM_182961.4(SYNE1):c.6825+97AT[8]	noncoding	Benign
6	152404104	G	GAT	C152404118T	SYNE1	NM_182961.4(SYNE1):c.6825+97AT[7]	noncoding	Benign
6	152404335	TAACTA	T	A152404337T	SYNE1	NM_182961.4(SYNE1):c.6724-26_6724-22del	noncoding	Benign
6	152404557	GA	G	A152404566C	SYNE1	NM_182961.4(SYNE1):c.6724-244del	noncoding	Benign
6	152406944	CT	C	T152406957C	SYNE1	NM_182961.4(SYNE1):c.6723+69del	noncoding	Benign
6	152406944	CTT	C	T152406956C	SYNE1	NM_182961.4(SYNE1):c.6723+68_6723+69del	noncoding	Benign
6	152408955	C	CA	G152408972A	SYNE1	NM_182961.4(SYNE1):c.6540+97dup	noncoding	Benign
6	152409563	GA	G	A152409568G	SYNE1	NM_182961.4(SYNE1):c.6376del:p.Ser2126fs	coding	Pathogenic
6	152416541	GA	G	A152416543G	SYNE1	NM_182961.4(SYNE1):c.5895del:p.Leu1966fs	coding	Pathogenic
6	152416839	GGCAA	G	A152416842T	SYNE1	NM_182961.4(SYNE1):c.5594_5597del:p.Leu1865fs	coding	Pathogenic
6	152416911	C	CA	G152416913A	SYNE1	NM_182961.4(SYNE1):c.5525dup:p.Gln1843fs	coding	Pathogenic
6	152419546	T	TA	C152419560A	SYNE1	NM_182961.4(SYNE1):c.5421+10dup	noncoding	Benign
6	152435853	TAA	T	A152435856G	SYNE1	NM_182961.4(SYNE1):c.4310+86_4310+87del	noncoding	Benign
6	152441231	CTTTG	C	G152441239C	SYNE1	NM_182961.4(SYNE1):c.4044_4047del:p.Asn1348fs	coding	Pathogenic
6	152444478	TC	T	C152444480T	SYNE1	NM_182961.4(SYNE1):c.3769del:p.Glu1257fs	coding	Pathogenic
6	152444591	G	GA	C152444603A	SYNE1	NM_182961.4(SYNE1):c.3670-14dup	noncoding	Benign
6	152450753	TG	T	G152450756A	SYNE1	NM_182961.4(SYNE1):c.3266del:p.Pro1089fs	coding	Pathogenic
6	152451276	CAA	C	A152451286C	SYNE1	NM_182961.4(SYNE1):c.3028-73_3028-72del	noncoding	Benign
6	152451276	CA	C	A152451287C	SYNE1	NM_182961.4(SYNE1):c.3028-72del	noncoding	Benign
6	152453330	TA	T	A152453339T	SYNE1	NM_182961.4(SYNE1):c.3027+255del	noncoding	Benign
6	152456270	GT	G	T152456281G	SYNE1	NM_182961.4(SYNE1):c.2569-227del	noncoding	Benign
6	152463508	G	GA	T152463516A	SYNE1	NM_182961.4(SYNE1):c.1941dup:p.Arg648fs	coding	Pathogenic
6	152465760	A	AACACAC	T152465766C	SYNE1	NM_182961.4(SYNE1):c.1729+218GT[5]	noncoding	Benign
6	152465762	CACAT	C	T152465766C	SYNE1	NM_182961.4(SYNE1):c.1729+216_1729+219del	noncoding	Benign
6	152465766	T	TAC	A152465798C	SYNE1	NM_182961.4(SYNE1):c.1729+186GT[16]	noncoding	Benign
6	152465792	C	CAG	C152465794G	SYNE1	NM_182961.4(SYNE1):c.1729+189_1729+190insTC	noncoding	Benign
6	152472240	TA	T	A152472245G	SYNE1	NM_182961.4(SYNE1):c.1463+60del	noncoding	Benign
6	152488074	C	CAAAA	T152488090A	SYNE1	NM_182961.4(SYNE1):c.1047+307_1047+310dup	noncoding	Benign
6	152488074	C	CAAA	T152488090A	SYNE1	NM_182961.4(SYNE1):c.1047+307_1047+309dup	noncoding	Benign
6	152488074	C	CAA	T152488090A	SYNE1	NM_182961.4(SYNE1):c.1047+307_1047+308dup	noncoding	Benign
6	152488074	C	CA	T152488090A	SYNE1	NM_182961.4(SYNE1):c.1047+307dup	noncoding	Benign
6	152502752	C	CA	G152502759A	SYNE1	NM_182961.4(SYNE1):c.779-11dup	noncoding	Benign
6	152526078	AC	A	C152526080A	SYNE1	NM_182961.4(SYNE1):c.225+1del	noncoding	Pathogenic
6	152540207	T	TA	T152540213A	SYNE1	NM_182961.4(SYNE1):c.68-187dup	noncoding	Benign
6	152628584	T	TA	T152628595A	SYNE1	NM_182961.4(SYNE1):c.-223-40dup	noncoding	Benign
6	156777692	G	GGCA	G156777701A	ARID1B	NM_001374828.1(ARID1B):c.15AGC[3]:p.Ala14dup	noncoding	Benign
6	156777718	CGGCGCGGGCGCG	C	G156777728A	ARID1B;LOC115308161	NM_001374828.1(ARID1B):c.42GCGGGC[1]:p.15RA[1]	noncoding	Benign
6	156778031	G	GTCC	G156778053T	ARID1B	NM_001374828.1(ARID1B):c.352TCC[8]:p.Ser124dup	coding	Benign/Likely_benign
6	156778178	G	GCAC	T156778196C	ARID1B	NM_001374828.1(ARID1B):c.501CCA[6]:p.His172dup	coding	Benign
6	156778198	CCCA	C	C156778214T	ARID1B	NM_001374828.1(ARID1B):c.519CCA[5]:p.His179del	coding	Benign/Likely_benign
6	156778268	CCAGCAGCAG	C	G156778283A	ARID1B	NM_001374828.1(ARID1B):c.591GCA[4]:p.Gln212_Gln214del	coding	Benign/Likely_benign
6	156778289	GCAA	G	A156778292G	ARID1B	NM_001374828.1(ARID1B):c.612_614del:p.Gln214del	coding	Benign
6	156778737	TCCG	T	C156778750G	ARID1B	NM_001374828.1(ARID1B):c.1058CCG[4]:p.Ala357del	coding	Benign
6	156778737	T	TCCG	G156778753C	ARID1B	NM_001374828.1(ARID1B):c.1058CCG[6]:p.Ala357dup	coding	Benign
6	156778847	GGGCGGC	G	C156778868A	ARID1B	NM_001374828.1(ARID1B):c.1170CGG[6]:p.Gly401_Gly402del	coding	Benign/Likely_benign
6	156778847	GGGCGGCGGC	G	C156778865A	ARID1B	NM_001374828.1(ARID1B):c.1170CGG[5]:p.Gly400_Gly402del	coding	Benign/Likely_benign
6	156778847	G	GGGCGGC	A156778874C	ARID1B	NM_001374828.1(ARID1B):c.1170CGG[10]:p.Gly401_Gly402dup	coding	Benign/Likely_benign
6	156778871	C	CGGA	C156778886A	ARID1B	NM_001374828.1(ARID1B):c.1194AGG[5]:p.Gly402dup	coding	Benign/Likely_benign
6	156778889	C	CGGA	C156778915G	ARID1B	NM_001374828.1(ARID1B):c.1211GAG[9]:p.Gly411dup	coding	Benign/Likely_benign
6	156778889	C	CGGAGGA	C156778915G	ARID1B	NM_001374828.1(ARID1B):c.1211GAG[10]:p.Gly410_Gly411dup	coding	Benign/Likely_benign
6	156778889	C	CGGAGGAGGA	C156778915G	ARID1B	NM_001374828.1(ARID1B):c.1211GAG[11]:p.Gly409_Gly411dup	coding	Benign/Likely_benign
6	156778906	GAGGAGGAGCAGGAGC	G	A156778922G	ARID1B	NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1]:p.411GAGAG[1]	coding	Benign/Likely_benign
6	156778958	CGCGGCGGCGGCGGCAGCAGCAGGAG	C	A156778973G	ARID1B	NM_001374828.1(ARID1B):c.1293_1317del:p.Ala433fs	coding	Pathogenic/Likely_pathogenic
6	156778963	C	CGGCGGCGGCAGCAGCAGGA	G156778992A	ARID1B	NM_001374828.1(ARID1B):c.1293_1311dup:p.Gly438fs	coding	Pathogenic
6	156779186	C	CA	T156779189A	ARID1B	NM_001374828.1(ARID1B):c.1508dup:p.Asn503fs	coding	Pathogenic
6	156779253	AG	A	G156779254C	ARID1B	NM_001374828.1(ARID1B):c.1574del:p.Ser525fs	coding	Pathogenic
6	156779296	A	AGGC	G156779311C	ARID1B	NM_001374828.1(ARID1B):c.1619CGG[5]:p.Ala543dup	coding	Benign
6	156779296	AGGC	A	C156779308G	ARID1B	NM_001374828.1(ARID1B):c.1619CGG[3]:p.Ala543del	coding	Benign/Likely_benign
6	156779302	CGGCGGCGGGGGCGGCGGCG	C	G156779309C	ARID1B	NM_001374828.1(ARID1B):c.1629_1647del:p.Gly544fs	coding	Pathogenic/Likely_pathogenic
6	156779359	AG	A	G156779361A	ARID1B	NM_001374828.1(ARID1B):c.1681del:p.Asp561fs	coding	Pathogenic
6	156779365	TG	T	G156779368C	ARID1B	NM_001374828.1(ARID1B):c.1688del:p.Gly563fs	coding	Pathogenic
6	156829382	TC	T	C156829385G	ARID1B	NM_001374828.1(ARID1B):c.1950del:p.Ala652fs	coding	Pathogenic
6	156901446	AG	A	G156901447C	ARID1B	NM_001374828.1(ARID1B):c.2058del:p.Gln686fs	coding	Pathogenic
6	156901471	A	AC	A156901476C	ARID1B	NM_001374828.1(ARID1B):c.2086dup:p.Gln696fs	coding	Pathogenic
6	156935566	C	CA	G156935569A	ARID1B	NM_001374828.1(ARID1B):c.2239dup:p.Ser747fs	coding	Pathogenic
6	157133040	G	GC	A157133042C	ARID1B	NM_001374828.1(ARID1B):c.2595dup:p.Thr866fs	coding	Pathogenic
6	157133063	G	GCCTCAACC	T157133065C	ARID1B	NM_001374828.1(ARID1B):c.2618_2619insCTCAACCC:p.Gln874fs	coding	Pathogenic
6	157133174	T	TA	C157133176A	ARID1B	NM_001374828.1(ARID1B):c.2729dup:p.Tyr910Ter	coding	Pathogenic
6	157148704	GC	G	C157148706A	ARID1B	NM_001374828.1(ARID1B):c.2844del:p.Asn949fs	coding	Pathogenic
6	157167048	GT	G	T157167051C	ARID1B	NM_001374828.1(ARID1B):c.3101del:p.Phe1034fs	coding	Pathogenic
6	157167074	CT	C	T157167076A	ARID1B	NM_001374828.1(ARID1B):c.3126del:p.Met1043fs	coding	Pathogenic
6	157167129	TG	T	G157167130A	ARID1B	NM_001374828.1(ARID1B):c.3180del:p.Met1060fs	coding	Pathogenic
6	157167159	CGCCCGCCATGGTGAACAGCTCGGCA	C	C157167161G	ARID1B	NM_001374828.1(ARID1B):c.3211_3235del25:p.Pro1071fs	coding	Pathogenic
6	157174017	GTC	G	C157174019T	ARID1B	NM_001374828.1(ARID1B):c.3247_3248del:p.Leu1083fs	coding	Pathogenic
6	157174718	T	TTA	A157174741T	ARID1B	NM_001374828.1(ARID1B):c.3346-128TA[12]	noncoding	Benign
6	157174817	AT	A	T157174831A	ARID1B	NM_001374828.1(ARID1B):c.3346-16del	noncoding	Benign
6	157180990	AC	A	C157180991T	ARID1B	NM_001374828.1(ARID1B):c.3527del:p.Thr1176fs	coding	Pathogenic
6	157181075	AAG	A	A157181082G	ARID1B	NM_001374828.1(ARID1B):c.3618_3619del:p.Gly1207fs	coding	Pathogenic
6	157184342	GA	G	A157184343G	ARID1B	NM_001374828.1(ARID1B):c.3827del:p.Glu1276fs	coding	Pathogenic
6	157184368	GC	G	C157184373G	ARID1B	NM_001374828.1(ARID1B):c.3857del:p.Pro1286fs	coding	Pathogenic
6	157184416	G	GC	T157184418C	ARID1B	NM_001374828.1(ARID1B):c.3901dup:p.Leu1301fs	coding	Pathogenic
6	157189671	AC	A	C157189677A	ARID1B	NM_001374828.1(ARID1B):c.3955del:p.Gln1319fs	coding	Pathogenic
6	157189717	AC	A	C157189719T	ARID1B	NM_001374828.1(ARID1B):c.3997del:p.Asp1332_Leu1333insTer	coding	Pathogenic
6	157190103	A	AC	T157190105C	ARID1B	NM_001374828.1(ARID1B):c.4125dup:p.Ser1376fs	coding	Pathogenic
6	157190191	CT	C	T157190194G	ARID1B	NM_001374828.1(ARID1B):c.4215del:p.Phe1405fs	coding	Pathogenic
6	157196264	T	TCC	G157196265C	ARID1B	NM_001374828.1(ARID1B):c.4331_4332insCC:p.Gly1445fs	coding	Pathogenic
6	157196284	CAG	C	A157196285T	ARID1B	NM_001374828.1(ARID1B):c.4352_4353del:p.Gln1451fs	coding	Pathogenic
6	157198871	T	TGG	A157198874G	ARID1B	NM_001374828.1(ARID1B):c.4444_4445dup:p.Gly1483fs	coding	Pathogenic
6	157198904	GC	G	C157198906G	ARID1B	NM_001374828.1(ARID1B):c.4478del:p.Pro1493fs	coding	Pathogenic
6	157200754	A	AC	G157200756C	ARID1B	NM_001374828.1(ARID1B):c.4530dup:p.Glu1511fs	coding	Pathogenic
6	157200774	AT	A	T157200775G	ARID1B	NM_001374828.1(ARID1B):c.4550del:p.Met1517fs	coding	Pathogenic
6	157200814	AT	A	T157200815G	ARID1B	NM_001374828.1(ARID1B):c.4590del:p.Gln1529_Tyr1530insTer	coding	Pathogenic
6	157200816	GGA	G	A157200818G	ARID1B	NM_001374828.1(ARID1B):c.4593_4594del:p.Gly1532fs	coding	Pathogenic
6	157201055	G	GC	T157201061C	ARID1B	NM_001374828.1(ARID1B):c.4835dup:p.Tyr1613fs	coding	Pathogenic
6	157201093	T	TG	T157201096G	ARID1B	NM_001374828.1(ARID1B):c.4870dup:p.Val1624fs	coding	Pathogenic
6	157201189	TCA	T	A157201193G	ARID1B	NM_001374828.1(ARID1B):c.4968_4969del:p.Arg1657fs	coding	Pathogenic
6	157201270	TC	T	C157201272A	ARID1B	NM_001374828.1(ARID1B):c.5047del:p.Gln1683fs	coding	Pathogenic
6	157201294	TG	T	G157201295T	ARID1B	NM_001374828.1(ARID1B):c.5070del:p.Met1690fs	coding	Pathogenic
6	157201448	AG	A	G157201449T	ARID1B	NM_001374828.1(ARID1B):c.5224del:p.Val1742fs	coding	Pathogenic
6	157203887	TGATGATGTC	AGA	T157203887A	ARID1B	NM_001374828.1(ARID1B):c.5285_5294delinsAGA:p.Val1762fs	coding	Pathogenic
6	157203966	CA	C	A157203967G	ARID1B	NM_001374828.1(ARID1B):c.5365del:p.Ser1789fs	coding	Pathogenic
6	157206180	TCGAA	T	G157206182T	ARID1B	NM_001374828.1(ARID1B):c.5410_5413del:p.Glu1804fs	coding	Pathogenic
6	157206401	AAGAC	A	C157206405A	ARID1B	NM_001374828.1(ARID1B):c.5633_5636del:p.Thr1878fs	coding	Pathogenic
6	157206405	CAGAA	C	A157206408C	ARID1B	NM_001374828.1(ARID1B):c.5636_5639del:p.Glu1879fs	coding	Pathogenic/Likely_pathogenic
6	157206607	CG	C	G157206612T	ARID1B	NM_001374828.1(ARID1B):c.5840del:p.Gly1947fs	coding	Pathogenic
6	157206796	AG	A	G157206800C	ARID1B	NM_001374828.1(ARID1B):c.6028del:p.Ala2010fs	coding	Pathogenic
6	157206826	GC	G	C157206830A	ARID1B	NM_001374828.1(ARID1B):c.6058del:p.Gln2020fs	coding	Pathogenic
6	157206856	TGG	T	G157206857T	ARID1B	NM_001374828.1(ARID1B):c.6085_6086del:p.Gly2029fs	coding	Pathogenic
6	157206865	GC	G	C157206866A	ARID1B	NM_001374828.1(ARID1B):c.6094del:p.Gln2032fs	coding	Pathogenic
6	157207147	C	CA	G157207150A	ARID1B	NM_001374828.1(ARID1B):c.6377dup:p.Val2128fs	coding	Pathogenic
6	157207181	TG	T	G157207184A	ARID1B	NM_001374828.1(ARID1B):c.6412del:p.Asp2138fs	coding	Pathogenic
6	157207268	A	AG	C157207270G	ARID1B	NM_001374828.1(ARID1B):c.6497dup:p.Ser2166fs	coding	Pathogenic
6	157207336	TC	T	C157207339T	ARID1B	NM_001374828.1(ARID1B):c.6567del:p.Pro2191fs	coding	Pathogenic
6	157207705	AC	A	C157207707A	ARID1B	NM_001374828.1(ARID1B):c.6935del:p.Pro2312fs	coding	Pathogenic
6	157208109	G	GT	C157208120T	ARID1B	NM_001374828.1(ARID1B):c.*228dup	noncoding	Benign
6	158111480	A	AT	A158111481T	SERAC1	NM_032861.4(SERAC1):c.1850_1851insA:p.Pro618fs	coding	Pathogenic
6	158113453	T	TG	A158113455G	SERAC1	NM_032861.4(SERAC1):c.1823dup:p.Ala609fs	coding	Pathogenic
6	158114963	CAAG	C	A158114968C	SERAC1	NM_032861.4(SERAC1):c.1504CTT[1]:p.Leu503del	coding	Pathogenic
6	158114988	G	GA	C158114996A	SERAC1	NM_032861.4(SERAC1):c.1502-24dup	noncoding	Benign/Likely_benign
6	158117837	CAT	C	A158117840G	SERAC1	NM_032861.4(SERAC1):c.1309-18_1309-17del	noncoding	Benign/Likely_benign
6	158143327	CTCTCTCTCTCTCTCTCTCTCTATA	C	C158143329A	SERAC1	NM_032861.4(SERAC1):c.610-167_610-144del	noncoding	Benign
6	158143329	CTCTCTCTCTCTCTCTCTCTATATA	C	C158143331A	SERAC1	NM_032861.4(SERAC1):c.610-169_610-146del	noncoding	Benign
6	158143329	CTCTCTCTCTCTCTCTCTCTATATATA	C	C158143331A	SERAC1	NM_032861.4(SERAC1):c.610-171_610-146del	noncoding	Benign
6	158143331	CTCTCTCTCTCTCTCTCTATATATA	C	C158143333A	SERAC1	NM_032861.4(SERAC1):c.610-171_610-148del	noncoding	Benign
6	158143331	CTCTCTCTCTCTCTCTCTATATATATA	C	C158143333A	SERAC1	NM_032861.4(SERAC1):c.610-173_610-148del	noncoding	Benign
6	158143333	CTCTCTCTCTCTCTCTATATATA	C	C158143335A	SERAC1	NM_032861.4(SERAC1):c.610-171_610-150del	noncoding	Benign
6	158143333	CTCTCTCTCTCTCTCTATATATATA	C	C158143335A	SERAC1	NM_032861.4(SERAC1):c.610-173_610-150del	noncoding	Benign
6	158143384	CAT	C	A158143393G	SERAC1	NM_032861.4(SERAC1):c.610-210AT[4]	noncoding	Benign
6	158158505	TA	T	A158158515T	SERAC1	NM_032861.4(SERAC1):c.-1-142del	noncoding	Benign
6	158191983	TG	T	G158191984C	GTF2H5	NM_207118.3(GTF2H5):c.43del:p.Ala15fs	coding	Pathogenic
6	158192342	TA	T	A158192355G	GTF2H5	NM_207118.3(GTF2H5):c.*198del	noncoding	Benign
6	158999692	CG	C	G158999695C	RSPH3	NM_031924.8(RSPH3):c.-143del	coding	Pathogenic
6	158999769	CG	C	G158999774C	RSPH3	NM_031924.8(RSPH3):c.-220del	coding	Pathogenic
6	158999850	CGG	C	G158999852A	RSPH3	NM_031924.8(RSPH3):c.-302_-301del	coding	Pathogenic
6	159801113	T	TC	T159801115C	PNLDC1	NM_001271862.2(PNLDC1):c.136dup:p.Leu46fs	coding	Pathogenic
6	160713272	A	ATT	A160713273T	PLG	NM_000301.5(PLG):c.547+147_547+148insTT	noncoding	Benign
6	160713273	A	AT	C160713286T	PLG	NM_000301.5(PLG):c.547+160dup	noncoding	Benign
6	160713273	A	ATT	C160713286T	PLG	NM_000301.5(PLG):c.547+159_547+160dup	noncoding	Benign
6	160714474	G	GA	G160714475A	PLG	NM_000301.5(PLG):c.548-320_548-319insA	noncoding	Benign
6	160753345	AT	A	T160753350A	PLG	NM_000301.5(PLG):c.*289del	noncoding	Benign
6	161548852	AC	A	C161548856A	PRKN	NM_004562.3(PRKN):c.1083+1del	noncoding	Pathogenic
6	161548965	GA	G	A161548966C	PRKN	NM_004562.3(PRKN):c.971del:p.Val324fs	coding	Pathogenic
6	161549018	AAGCAG	A	G161549020T	PRKN	NM_004562.3(PRKN):c.934-20_934-16del	noncoding	Benign
6	161549118	ATGTG	A	G161549138A	PRKN	NM_004562.3(PRKN):c.934-137CA[9]	noncoding	Benign
6	161549118	ATGTGTG	A	G161549136A	PRKN	NM_004562.3(PRKN):c.934-137CA[8]	noncoding	Benign
6	161716067	CATCTT	C	T161716069C	PRKN	NM_004562.3(PRKN):c.871+69700_871+69704del	noncoding	Benign
6	161785899	GA	G	A161785900C	PRKN	NM_004562.3(PRKN):c.743del:p.Val248fs	coding	Pathogenic
6	162046157	GGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	TTCGTTTTTTGCCTTTCCATAGAATGATTCAAAAGCCAAACGTGTCAGTCCGAGGCTGTGTTGATGGTTGCATTGCAGGTTTAGACAAAGGCC	G162046157T	PRKN	NM_004562.3(PRKN):c.618+7842_618+7934inv	noncoding	Pathogenic
6	162170197	CCTAA	C	A162170200C	PRKN	NM_004562.3(PRKN):c.534+30930_534+30933del	noncoding	Benign
6	162201173	TA	T	A162201174C	PRKN	NM_004562.3(PRKN):c.491del:p.Val164fs	coding	Pathogenic
6	162262781	G	GT	A162262783T	PRKN	NM_004562.3(PRKN):c.172-17dup	noncoding	Benign/Likely_benign
6	162262782	TAAAAAAAAAAA	T	A162262793G	PRKN	NM_004562.3(PRKN):c.172-28_172-18del	noncoding	Benign
6	162262782	T	TA	G162262804A	PRKN	NM_004562.3(PRKN):c.172-38dup	noncoding	Benign
6	162443289	CG	C	G162443291C	PRKN	NM_004562.3(PRKN):c.171+20del	noncoding	Benign
6	163478762	CT	C	T163478774C	QKI	NM_006775.3(QKI):c.286-6del	noncoding	Benign
6	165431474	T	TA	C165431483A	PDE10A	NM_001385079.1(PDE10A):c.1492-3dup	noncoding	Benign
6	166943017	AC	A	C166943019A	RNASET2	NM_003730.6(RNASET2):c.332+1del	noncoding	Pathogenic
6	166946676	C	CAAT	C166946681A	RNASET2	NM_003730.6(RNASET2):c.261+3_261+5dup	noncoding	Benign/Likely_benign
6	168608142	TC	T	C168608148G	SMOC2	NM_001166412.2(SMOC2):c.825-9del	noncoding	Benign
6	168652852	T	TGG	A168652854G	SMOC2	NM_001166412.2(SMOC2):c.1011-101_1011-100insGG	noncoding	Benign
6	168664384	CTTTTTTTTTTTTTTT	C	T168664402A	SMOC2	NM_001166412.2(SMOC2):c.1323+291_1323+305del	noncoding	Benign
6	169759815	CAG	C	G169759817T	ERMARD	NM_018341.3(ERMARD):c.606-21_606-20del	noncoding	Benign
6	169769522	CT	C	T169769523G	ERMARD	NM_018341.3(ERMARD):c.1060-17del	noncoding	Benign
6	169775360	TG	T	G169775364C	ERMARD	NM_018341.3(ERMARD):c.1394+18del	noncoding	Benign
6	169776551	CA	TG	C169776551T	ERMARD	NM_018341.3(ERMARD):c.1617_1618inv:p.Ser540Gly	coding	Benign
6	169781315	AT	A	T169781325A	ERMARD	NM_018341.3(ERMARD):c.1854-5del	noncoding	Benign
6	170282881	TG	T	G170282887C	DLL1	NM_005618.4(DLL1):c.2167-3del	noncoding	Benign
6	170283662	CT	C	T170283663G	DLL1	NM_005618.4(DLL1):c.1616del:p.Gln539fs	coding	Pathogenic
6	170284019	ACACTTGG	A	T170284023C	DLL1	NM_005618.4(DLL1):c.1253_1259del:p.Ala418fs	coding	Pathogenic
6	170285585	G	GC	A170285593C	DLL1	NM_005618.4(DLL1):c.845dup:p.Leu283fs	coding	Pathogenic
6	170288338	A	AAACGGAGCAGCCCTCTCCGTAGTAGTGT	T170288367A	DLL1	NM_005618.4(DLL1):c.543_570dup:p.Phe191fs	coding	Pathogenic
6	170288446	CCG	C	C170288447T	DLL1	NM_005618.4(DLL1):c.461_462del:p.Thr154fs	coding	Pathogenic
6	170288753	CTG	C	T170288758G	DLL1	NM_005618.4(DLL1):c.386_387del:p.Thr129fs	coding	Pathogenic
6	170289280	TCTC	T	C170289287G	DLL1	NM_005618.4(DLL1):c.351+223GAG[2]	noncoding	Benign
6	170561925	A	ACAG	A170561952G	TBP	NM_003194.5(TBP):c.192GCA[9]:p.Gln95dup	coding	Benign
6	170561950	CA	C	A170561952C	TBP	NM_003194.5(TBP):c.216del:p.Gln72fs	coding	Benign
6	170561955	GCAA	G	A170561958G	TBP	NM_003194.5(TBP):c.222_224del:p.Gln95del	coding	Benign
6	170561962	C	CCAA	A170561963C	TBP	NM_003194.5(TBP):c.226_227insCAA:p.Gln76delinsProLys	coding	Benign/Likely_benign
6	170561966	AG	A	G170561967C	TBP	NM_003194.5(TBP):c.231del:p.Gln77fs	coding	Pathogenic
6	170561966	AGCAGCAGCAG	A	G170561967C	TBP	NM_003194.5(TBP):c.231_240del:p.Gln77fs	coding	Benign
6	170561966	AGCAGCAGCAGCAG	A	G170561967C	TBP	NM_003194.5(TBP):c.231_243del:p.Gln77fs	coding	Benign/Likely_benign
6	170561966	AGCAGCAGCAGCAGCAG	A	G170561967C	TBP	NM_003194.5(TBP):c.231_246del:p.Gln77fs	coding	Pathogenic
6	170561966	AGCAGCAGCAGCAGCAGCAGCAGCAG	A	G170561967C	TBP	NM_003194.5(TBP):c.231_255del:p.Gln77fs	coding	Pathogenic
7	246536	C	CGACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGT	C246538A	FAM20C	NM_020223.4(FAM20C):c.956+30_956+31insACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGTG	noncoding	Benign
7	248189	C	CACAGAGGCCCGCTCAGCCCCACAGAGCACAGACCCTCCCCTGCCCCGTTCTTATTTGGAGGCAGGGAA	G248203C	FAM20C	NM_020223.4(FAM20C):c.957-113_957-112insCAGCCCCACAGAGCACAGACCCTCCCCTGCCCCGTTCTTATTTGGAGGCAGGGAAACAGAGGCCCGCT	noncoding	Benign
7	259464	C	CTCTG	C259472G	FAM20C	NM_020223.4(FAM20C):c.1506-263_1506-260dup	noncoding	Benign
7	259592	T	TTCTC	G259600C	FAM20C	NM_020223.4(FAM20C):c.1506-138TC[5]	noncoding	Benign
7	259714	GC	G	C259718T	FAM20C	NM_020223.4(FAM20C):c.1506-13del	noncoding	Benign
7	607392	TT	AA	T607392A	PRKAR1B	NM_001164760.2(PRKAR1B):c.500_501inv:p.Gln167Leu	coding	Pathogenic
7	726577	G	GACGAT	A726580G	DNAAF5	NM_001164760.2(PRKAR1B):c.-23+632_-23+633insGTATC	noncoding	Benign
7	727031	T	TGCGCC	G727046C	DNAAF5	NM_017802.4(DNAAF5):c.321_325dup:p.Arg109fs	coding	Pathogenic
7	729809	TC	T	C729812A	DNAAF5	NM_017802.4(DNAAF5):c.745del:p.His249fs	coding	Pathogenic
7	763965	GCA	G	C763968G	DNAAF5	NM_017802.4(DNAAF5):c.1777_1778del:p.Gln593fs	coding	Pathogenic
7	841928	G	GT	C841938T	SUN1	NM_001130965.3(SUN1):c.267-9dup	noncoding	Benign
7	843191	TG	T	G843192T	SUN1	NM_001130965.3(SUN1):c.452-14del	noncoding	Benign
7	843192	G	GT	A843204T	SUN1	NM_001130965.3(SUN1):c.452-3dup	noncoding	Benign
7	843192	GT	G	T843203A	SUN1	NM_001130965.3(SUN1):c.452-3del	noncoding	Benign
7	843192	GTT	G	T843202A	SUN1	NM_001130965.3(SUN1):c.452-4_452-3del	noncoding	Benign
7	851547	C	CGAT	T851551G	SUN1	NM_001130965.3(SUN1):c.757+66_757+68dup	noncoding	Benign
7	873198	TC	T	C873201A	SUN1	NM_001130965.3(SUN1):c.2242-14del	noncoding	Benign
7	2354793	C	CGCG	C2354799G	EIF3B	NM_001362792.2(EIF3B):c.-504-438_-504-436dup	noncoding	Benign
7	2367102	CA	C	A2367119C	EIF3B	NM_001037283.2(EIF3B):c.1403+74del	noncoding	Benign
7	2513247	A	AGATG	A2513276G	LFNG	NM_001166355.2(LFNG):c.163_166dup:p.Glu56delinsGlyTer	coding	Benign
7	2513247	A	AGGAT	A2513249G	LFNG	NM_001166355.2(LFNG):c.139_140insGATG:p.Asp47delinsGlyTer	coding	Benign
7	2527320	C	CTGTGCG	T2527343C	LFNG	NM_001040167.2(LFNG):c.*113CGTGTG[4]	coding	Benign
7	2527332	G	GTGTGCA	G2527338A	LFNG	NM_001040167.2(LFNG):c.*121_*125TG[2]CATGTGC[1]	coding	Benign
7	2527337	C	CGTGTGCGT	T2527343C	LFNG	NM_001040167.2(LFNG):c.*126_*130GT[2]GCGTGTGTG[1]	coding	Benign
7	2538511	TA	T	A2538512G	BRAT1	NM_152743.4(BRAT1):c.2023del:p.Tyr675fs	coding	Pathogenic
7	2538537	CAA	C	A2538539G	BRAT1	NM_152743.4(BRAT1):c.1996_1997del:p.Leu666fs	coding	Pathogenic
7	2538711	TG	T	G2538714A	BRAT1	NM_152743.4(BRAT1):c.1823del:p.Pro608fs	coding	Pathogenic
7	2539550	AG	A	G2539551T	BRAT1	NM_152743.4(BRAT1):c.1590del:p.Trp531fs	coding	Pathogenic
7	2540962	TATCCCCACCACCGTACCGTGGGGCTGGAGCCGGGGCTCTCG	T	T2540964G	BRAT1	NM_152743.4(BRAT1):c.1371_1395+16del	noncoding	Pathogenic/Likely_pathogenic
7	2541756	ACAGGAGGCCGGCG	A	G2541762C	BRAT1	NM_152743.4(BRAT1):c.1083_1095del:p.Gly363fs	coding	Pathogenic
7	2542127	TC	T	C2542129G	BRAT1	NM_152743.4(BRAT1):c.1007del:p.Gly336fs	coding	Pathogenic
7	2543206	GT	G	T2543207G	BRAT1	NM_152743.4(BRAT1):c.920del:p.His307fs	coding	Pathogenic
7	2543939	G	GGAGAAGAT	G2543941A	BRAT1	NM_152743.4(BRAT1):c.453_454insATCTTCTC:p.Leu152fs	coding	Pathogenic/Likely_pathogenic
7	2544022	GGCAGAGGGCCTCAGGGAAGATACAAATA	G	T2544033C	BRAT1	NM_152743.4(BRAT1):c.431-88_431-61del	noncoding	Benign
7	2544058	G	GC	A2544065C	BRAT1	NM_152743.4(BRAT1):c.431-102dup	noncoding	Benign
7	2545065	CA	C	A2545072G	BRAT1	NM_152743.4(BRAT1):c.283-10del	noncoding	Benign
7	2547019	G	GTCCCAGGAAGAGACGGAGGCCATGGGGCAGCTACGACTCCTGTCTCCA	T2547033C	BRAT1	NM_152743.4(BRAT1):c.282+304_282+305insTCTCTTCCTGGGATGGAGACAGGAGTCGTAGCTGCCCCATGGCCTCCG	noncoding	Benign
7	2554397	AG	A	G2554398A	BRAT1	NM_152743.4(BRAT1):c.34del:p.Leu12fs	coding	Pathogenic
7	2601425	C	CT	C2601437T	IQCE	NM_152558.5(IQCE):c.1609-5dup	noncoding	Benign
7	2917342	C	CG	T2917348G	CARD11	NM_032415.7(CARD11):c.2650dup:p.Arg884fs	coding	Pathogenic
7	2926807	GA	G	A2926808G	CARD11	NM_032415.7(CARD11):c.1755-17del	noncoding	Benign
7	2926810	GT	G	T2926811G	CARD11	NM_032415.7(CARD11):c.1755-20del	noncoding	Benign
7	2938017	CCTT	C	T2938020C	CARD11	NM_032415.7(CARD11):c.1030_1032del:p.Lys344del	coding	Pathogenic
7	2939813	AG	A	G2939814A	CARD11	NM_032415.7(CARD11):c.799del:p.Leu267fs	coding	Pathogenic
7	2944307	C	CCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCAT	T2944354A	CARD11	NM_032415.7(CARD11):c.547_588dup:p.Lys196_Val197insMetLysGluGluArgAspSerTyrAsnAspGluLeuValLys	coding	Pathogenic
7	4781741	T	TTCTC	T4781747C	AP5Z1	NM_014855.3(AP5Z1):c.355_358dup:p.Leu120fs	coding	Pathogenic/Likely_pathogenic
7	4784909	T	TA	G4784910A	AP5Z1	NM_014855.3(AP5Z1):c.792_793insA:p.Asp265fs	coding	Pathogenic
7	4785760	C	CT	G4785781T	AP5Z1	NM_014855.3(AP5Z1):c.1132+96dup	noncoding	Benign
7	4785760	C	CTT	G4785781T	AP5Z1	NM_014855.3(AP5Z1):c.1132+95_1132+96dup	noncoding	Benign
7	4785760	CTTT	C	T4785778G	AP5Z1	NM_014855.3(AP5Z1):c.1132+94_1132+96del	noncoding	Benign
7	4787635	TC	T	C4787637T	AP5Z1	NM_014855.3(AP5Z1):c.1315del:p.Leu439fs	coding	Pathogenic
7	4787643	TG	T	G4787645A	AP5Z1	NM_014855.3(AP5Z1):c.1323del:p.Ala440_Trp441insTer	coding	Pathogenic
7	4788298	CG	C	G4788302C	AP5Z1	NM_014855.3(AP5Z1):c.1595+8del	noncoding	Benign
7	4788970	G	GC	A4788977C	AP5Z1	NM_014855.3(AP5Z1):c.1707+25dup	noncoding	Benign
7	4789851	TCAAC	T	A4789854G	AP5Z1	NM_014855.3(AP5Z1):c.1730_1733del:p.Asn577fs	coding	Pathogenic
7	4789990	TCTCCCCTCCCCC	T	C4789998T	AP5Z1	NM_014855.3(AP5Z1):c.1805+69_1805+80del	noncoding	Benign
7	4790070	ACCCACAGC	A	G4790077C	AP5Z1	NM_014855.3(AP5Z1):c.1805+148_1805+155del	noncoding	Benign
7	4790100	TTCTC	T	C4790104G	AP5Z1	NM_014855.3(AP5Z1):c.1805+175_1805+178del	noncoding	Benign
7	4790126	C	CCT	G4790127C	AP5Z1	NM_014855.3(AP5Z1):c.1805+197_1805+198insCT	noncoding	Benign
7	4790809	GGTGTCCCCCCCAGGTGGTCACC	G	T4790813C	AP5Z1	NM_014855.3(AP5Z1):c.2079_2100del:p.Cys693_Pro694insTer	coding	Pathogenic
7	5308345	T	TG	C5308352G	TNRC18	NM_001080495.3(TNRC18):c.8701-39dup	noncoding	Benign
7	5313028	G	GGAT	G5313031T	TNRC18	NM_001080495.3(TNRC18):c.7862_7863insATC:p.Ser2671dup	coding	Benign
7	5313969	GT	G	T5313979G	TNRC18	NM_001080495.3(TNRC18):c.7028-107del	noncoding	Benign
7	5325418	G	GT	G5325428T	TNRC18	NM_001080495.3(TNRC18):c.6148-179dup	noncoding	Benign
7	5325428	G	GT	G5325442T	TNRC18	NM_001080495.3(TNRC18):c.6148-193dup	noncoding	Benign
7	5356738	T	TC	A5356747C	TNRC18	NM_001080495.3(TNRC18):c.5194+170dup	noncoding	Benign
7	5356828	GGC	G	C5356830G	TNRC18	NM_001080495.3(TNRC18):c.5194+86_5194+87del	noncoding	Benign
7	5356829	GC	G	C5356830G	TNRC18	NM_001080495.3(TNRC18):c.5194+86del	noncoding	Benign
7	5356830	C	CG	A5356839G	TNRC18	NM_001080495.3(TNRC18):c.5194+78dup	noncoding	Benign
7	5390358	CAAAAA	C	A5390375G	TNRC18	NM_001080495.3(TNRC18):c.487+122_487+126del	noncoding	Benign
7	5390358	CAAAA	C	A5390376G	TNRC18	NM_001080495.3(TNRC18):c.487+123_487+126del	noncoding	Benign
7	5390358	CAAA	C	A5390377G	TNRC18	NM_001080495.3(TNRC18):c.487+124_487+126del	noncoding	Benign
7	5390358	CAA	C	A5390378G	TNRC18	NM_001080495.3(TNRC18):c.487+125_487+126del	noncoding	Benign
7	5390358	CA	C	A5390379G	TNRC18	NM_001080495.3(TNRC18):c.487+126del	noncoding	Benign
7	5390358	C	CA	G5390380A	TNRC18	NM_001080495.3(TNRC18):c.487+106dup	noncoding	Benign
7	5420887	C	CGCCGGGGCCGCCGGACTG	T5420891G	TNRC18	NM_001080495.3(TNRC18):c.187+172_187+173insGGCCAGTCCGGCGGCCCC	noncoding	Benign
7	5527623	CA	C	A5527639C	ACTB	NM_001101.5(ACTB):c.*124del	noncoding	Benign
7	5527623	C	CA	C5527640A	ACTB	NM_001101.5(ACTB):c.*124dup	noncoding	Benign
7	5528520	TAGTC	T	T5528527G	ACTB	NM_001101.5(ACTB):c.559_562del:p.Asp187fs	coding	Pathogenic
7	5528607	A	ACC	G5528612C	ACTB	NM_001101.5(ACTB):c.474_475dup:p.Val159fs	coding	Pathogenic
7	5529168	ATCT	GTCA	A5529168G	ACTB	NM_001101.5(ACTB):c.353_356delinsTGAC:p.Lys118_Met119delinsMetThr	coding	Pathogenic
7	5530469	GGCCGCCTGCGGCCGGGCCGTGA	G	G5530479C	ACTB	NM_001101.5(ACTB):c.-7+33_-7+54del	noncoding	Benign
7	5530474	CCTGCGGCCGGGCCGTG	C	C5530475A	ACTB	NM_001101.5(ACTB):c.-7+34_-7+49del	noncoding	Benign
7	5530491	AGCCGCC	A	G5530492T	ACTB	NM_001101.5(ACTB):c.-7+27_-7+32del	noncoding	Benign
7	5973395	ACGGTCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCACCTGAGTGTGAGACACAATGGTTCAACGTTTTAGTAGTTTTTTGACGTCAGAATGGCAGCTCTTCAGAAGCATTCTTCTCTAAAATAAGGCTGGACAAGATTACAGCTCAAAAACTACCTTCCCTGAAAAACCTTCCCCCAGAGAAGCCTAGGTTCTAGATCTCAGCCCTC	A	G5973397A	PMS2	NM_000535.7(PMS2):c.2446-170_*3del	noncoding	Pathogenic
7	5973395	ACGGTCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCACCTGAGTGTGAGACACAATGGTTCAACGTTTTAGTAGTTTTTTGACGTCAGAATGGCAGCTCTTCAGAAGCATTCTTCTCTAAAATAAGGCTGGACAAGATTACAGCTCAAAAACTACCTTCCCTGAAAAACCTTCCCCCAGAGAAGCCTAGGTTCTAGATCTCAGCCCTCCACCCTTCTGTGAAATCAGGCTCCTTGTGGCTCCTTCAAGGTGGCACCGCCTCCACTCCAGACGCCGACCACACCTGTCTCAGCAGCCACCCTGCCCTCTCACCCTGGCAGGTGCAGCAGCCTCCCAGCAGGCCTCCCTGCCCCACTGCGACCCCTCCGAGCCGCTCTCCACTCAGCAGCCAGTGATTACTTTTAAAGGGCTGTCAGGTTATTCATTCCACTTCACAGCTCTCCCCCTCACCTGAATAAAAGCCCCCGTCTGTCCCCTGACTTGGCCCTCGCTGGGCTGTGCCTGCACCCCCACCTCCAAGCACGAATGCCTCCCTTCCTCACCCCAGCTGCACTGCTACTCCCTTCCTCTTGCACAGGCCCATCACGCAAACACCTGCCTTGGGACTGTGGCACTCCCGGGACCCTCTCCCCCAATGGGTGCAGGCGTCACTCCCCCTCTGTCGAGCTCCGACCTGCTGCCCATAGCACTCCAGCCCTGGCCCTGCTGCCTCCCTGCCATGGGTCCTCTGACAGGAAGGAGAGGACACAAGCCTGAAGCCCAATGTCACCTTCTTTCTTCCTGCAGCACCCTGAGGGCTCGCCATGTGCCAAGCACAGTCAGAAGGCTGGGGTGACAGCAGGTTGGAGAAGGACAGACAATCAACAAGTCAACAGAGAACCAAGACAGGTGGCACCAGGCGAGGCGGCCTGCTCAGGTGTGGGGATGGGGTGAAGGGTGACGGTGGCAAACCCAGGTAGAGAGGAGAGTAGGGAGAAAGGGTGTAAGGCAGGGAGGAGACTGAGGCGAGCGTGGAACTGGAAGGCAGCTACATGGCTGGAAGCTACATGGTGGGGAGATGGGGCTGGAAGGGTGGGCAGGGCTCAAAGCAGGAGCCTCCTGGGCAGGCAGTGACAACACCGGAGATGGACGGGTAGGCCAGGGCGAGAGGGAAGGAGCAGCCTGTGGTTCCCCGGGCCACTGAGTCACACTAAACTCAGGACATCAAAACTGCCCGGCTATGAGCTCAGCTCCACGCTCTCACTCACAGACTCCAAGACTGGAAGATCCATATTATGTCTTTTATTTTGGTGAGGTCAGGGGTGGTGGAGAGACTCTGTCTCCCAGGCTGGAATGCAATGGTGCGATCTCAGCTCACTGCAACTCCGCCTCCCAGATTCAAGCAATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTAATTTTCGTACTTTTAGTAGGGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAATTCCTGACCTCAGGTGATCAACCCACCTCCGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCTATTAGGTCTTTATCCAAGAAACACTGTGGCTAGAAGTCAGACTCTGGGCCCTCTTCTAATTAAACTCTGCCCTTGAGTCATTTCATCTAATCTCATGGCTGTAAATTACACCTGAAGCTCACACAGCAGGCTCCATCCCACCCACTCCCCACGTGGCCCCCAGCTGCTGCTCTCCTCAGCGGCCGCAGCCACCGCACCCCTTCCAGTCTGTTCTCTCTCCAGCAGCTGCAATCACGGGACTCCTTCCCGTCTGTTCTCTCCAGTGGCTCGTGCCACACACAGCACAGACCCCCAGGGTCTAGGTATGACCGGCAACACTCTACGTGGCTGTCCTCTGGACGCCGCTCTGCTCACTCCCTTCCCCTCTCCAGGGACACAATCAGCCTCTGGCTTCAGTCTTGCTACTTCCTTCGCTTGGAAAGTTCTTACCCAAGAGGGCTCCATTCTACCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCTGCCCCAAAACGCTGTTTTAGGCCAGGTGCGGTGGCTCACGCCTGTAAT	A	G5973397C	PMS2	NM_000535.7(PMS2):c.2445+1601_*3del	noncoding	Pathogenic
7	5973396	CGGTCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCACCTGAGTGTGAGACACAATGGTTCAACGTTTTAGTAGTTTTTTGACGTCAGAATGGCAGCTCTTCAGAAGCATTCTTCTCTAAAATAAGGCTGGACAAGATTACAGCTCAAAAACTACCTTCCCTGAAAAACCTTCCCCCAGAGAAGCCTAGGTTCTAGATCTCAGCCCTCCACCCTTCTGTGAAATCAGGCTCCTTGTGGCTCCTTCAAGGTGGCACCGCCTCCACTCCAGACGCCGACCACACCTGTCTCAGCAGCCACCCTGCCCTCTCACCCTGGCAGGTGCAGCAGCCTCCCAGCAGGCCTCCCTGCCCCACTGCGACCCCTCCGAGCCGCTCTCCACTCAGCAGCCAGTGATTACTTTTAAAGGGCTGTCAGGTTATTCATTCCACTTCACAGCTCTCCCCCTCACCTGAATAAAAGCCCCCGTCTGTCCCCTGA	C	G5973397C	PMS2	NM_000535.7(PMS2):c.2446-440_*2del	noncoding	Pathogenic
7	5973396	CGGTCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCACCTGAGTGTGAGACACAATGGTTCAACGTTTTAGTAGTTTTTTGACGTCAGAATGGCAGCTCTTCAGAAGCATTCTTCTCTAAAATAAGGCTGGACAAGATTACAGCTCAAAAACTACCTTCCCTGAAAAACCTTCCCCCAGAGAAGCCTAGGTTCTAGATCTCAGCCCTCCACCCTTCTGTGAAATCAGGCTCCTTGTGGCTCCTTCAAGGTGGCACCGCCTCCACTCCAGACGCCGACCACACCTGTCTCAGCAGCCACCCTGCCCTCTCACCCTGGCAGGTGCAGCAGCCTCCCAGCAGGCCTCCCTGCCCCACTGCGACCCCTCCGAGCCGCTCTCCACTCAGCAGCCAGTGATTACTTTTAAAGGGCTGTCAGGTTATTCATTCCACTTCACAGCTCTCCCCCTCACCTGAATAAAAGCCCCCGTCTGTCCCCTGACTTGGCCCTCGCTGGGCTGTGCCTGCACCCCCACCTCCAAGCACGAATGCCTCCCTTCCTCACCCCAGCTGCACTGCTACTCCCTTCCTCTTGCACAGGCCCATCACGCAAACACCTGCCTTGGGACTGTGGCACTCCCGGGACCCTCTCCCCCAATGGGTGCAGGCGTCACTCCCCCTCTGTCGAGCTCCGACCTGCTGCCCATAGCACTCCAGCCCTGGCCCTGCTGCCTCCCTGCCATGGGTCCTCTGACAGGAAGGAGAGGACACAAGCCTGAAGCCCAATGTCACCTTCTTTCTTCCTGCAGCACCCTGAGGGCTCGCCATGTGCCAAGCACAGTCAGAAGGCTGGGGTGACAGCAGGTTGGAGAAGGACAGACAATCAACAAGTCAACAGAGAACCAAGACAGGTGGCACCAGGCGAGGCGGCCTGCTCAGGTGTGGGGATGGGGTGAAGGGTGACGGTGGCAAACCCAGGTAGAGAGGAGAGTAGGGAGAAAGGGTGTAAGGCAGGGAGGAGACTGAGGCGAGCGTGGAACTGGAAGGCAGCTACATGGCTGGAAGCTACATGGTGGGGAGATGGGGCTGGAAGGGTGGGCAGGGCTCAAAGCAGGAGCCTCCTGGGCAGGCAGTGACAACACCGGAGATGGACGGGTAGGCCAGGGCGAGAGGGAAGGAGCAGCCTGTGGTTCCCCGGGCCACTGAGTCACACTAAACTCAGGACATCAAAACTGCCCGGCTATGAGCTCAGCTCCACGCTCTCACTCACAGACTCCAAGACTGGAAGATCCATATTATGTCTTTTATTTTGGTGAGGTCAGGGGTGGTGGAGAGACTCTGTCTCCCAGGCTGGAATGCAATGGTGCGATCTCAGCTCACTGCAACTCCGCCTCCCAGATTCAAGCAATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTAATTTTCGTACTTTTAGTAGGGATGGGGTTTCACCATGTTGGCCAAGCTGGTCTCAAATTCCTGACCTCAGGTGATCAACCCACCTCCGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCCTATTAGGTCTTTATCCAAGAAACACTGTGGCTAGAAGTCAGACTCTGGGCCCTCTTCTAATTAAACTCTGCCCTTGAGTCATTTCATCTAATCTCATGGCTGTAAATTACACCTGAAGCTCACACAGCAGGCTCCATCCCACCCACTCCCCACGTGGCCCCCAGCTGCTGCTCTCCTCAGCGGCCGCAGCCACCGCACCCCTTCCAGTCTGTTCTCTCTCCAGCAGCTGCAATCACGGGACTCCTTCCCGTCTGTTCTCTCCAGTGGCTCGTGCCACACACAGCACAGACCCCCAGGGTCTAGGTATGACCGGCAACACTCTACGTGGCTGTCCTCTGGACGCCGCTCTGCTCACTCCCTTCCCCTCTCCAGGGACACAATCAGCCTCTGGCTTCAGTCTTGCTACTTCCTTCGCTTGGAAAGTTCTTACCCAAGAGGGCTCCATTCTACCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCA	C	G5973397C	PMS2	NM_000535.7(PMS2):c.2445+1763_*2del	noncoding	Pathogenic
7	5973453	AT	A	T5973454G	PMS2	NM_000535.7(PMS2):c.2534del:p.His845fs	coding	Pathogenic
7	5973471	GTG	AACT	G5973471A	PMS2	NM_000535.7(PMS2):c.2515_2517delinsAGTT:p.His839fs	coding	Pathogenic
7	5973481	TC	T	C5973486A	PMS2	NM_000535.7(PMS2):c.2506del:p.Glu836fs	coding	Pathogenic
7	5973494	TGA	T	G5973495T	PMS2	NM_000535.7(PMS2):c.2492_2493del:p.Ile831fs	coding	Pathogenic
7	5973514	CTTGTG	C	G5973517A	PMS2	NM_000535.7(PMS2):c.2469_2473del:p.Asn823fs	coding	Pathogenic
7	5973535	ATCAT	A	T5973536C	PMS2	NM_000535.7(PMS2):c.2449_2452del:p.Met817fs	coding	Pathogenic
7	5977583	CTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGCCAGCGGATCATGAGGTCAGGAGATACAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATAGAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGGCACCACTGCGCTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAGAAAAAAAAAAAGTGAACACCTGAAAGAGAGGAAACTCACAAAATGCTTTTTGGAGGAACTTTTTAATCTTTTATAAAATTAAAAAAAACTGGTCTATATGACCTGAAAGATTATTCCCAGCTCTAAAAAGACAAGAATCTATAGTTCTGATTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGACGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGCTACTTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCGATCTGCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGCCGCTATAGTTCTAATTAATAACTTACCATTTTCATCGATAACAAAATCAAAGCCATTCTTTCTAAATATTTCCAGATTTTCTATCAGAACAGCTTCATTAACAGCAGTTAAGTTGAGAGTCTGAGGTCTGAAAAACACAAAAATGATTCAAACCATATCCTGAAGTCAAACATTTAGCTTTACAGCAGAAATGAAATGAAAACAACAATACTGTATTTTGAATTCATGTCAAAATAACAACACAAATAACAACACTACTCAGCTAAGTGTCACAAAACTTCCTGAGAAGTTCCTTTTAATTTTCTCTTTCTTAAAGTTCTTTTTAGAAGTTAAAGTAGCTACAGGCCAGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTAGGAGCCCGAGGCAGGCAGATCTCTTGAGGCCAGGAGTTTGAGACCGGCCTGGTCAACACAGCGAAACACTCTCTCTACTAAAAATATAAAAATTAGGCCAGGCATGGTGGCGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTTAGGCATGAGATTCGTTTGAACCCAGGAGGGAGGCAGAGGTTGTAGTGAGAGCCAAGATCACGCCACTGTACTCCAGCCTGGGCGACACAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCCATAAAAACAAAAATTAGCTGGAAGTGGTGGCTCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACTAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGGGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGTTCAAGTAGCTACAAAAGTAGTTTGCTTTTTCCTCAGCCTGCCACGCCAATGACTCCCACTTTTTCTGAATCCTTTCCTTAAGGATAACAGTATCACAAAAATGCTATTTTTCCTCCTTCTAATACAGAATTTGAAACACTGGGTTAGGTCATTGCCAGCATTTGTAAACAGAATGAACAGACAGCTTTTATTTTGCTATCCTGTTCCTTCCTCTGCCTGTATTATATCTCCATCCCTCTCTCCTCCTGGATTTACTGTTTGTTTTTTTTTAACCTTTCGTTATTTTTTTCAAAGATAGAGACAGGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGGCTCAAGCGATCCTTCCACTTCAGCCTCCCAAAGTGCTGGGATTACGAGTGTGAGCCACTGCATCTGGTCCTGAGTGCTGGATAAGACAAACACTGCTCAAGGCAGGAGACAGCTGGTGAGCAAACACAGGCTTGGTCCTGGAGCCAACAGATTACCGGGGAAGAAAGACGTTGAGCAAATACTCAGGCAAGTCGATTATGATGAGAAACGACAGGAAGGTCAGGAAGAAAAAGCAGCCAGTGTCATAGAGAGACTTCACCCTGGGGTCAGGAAGTGACCT	C	A5977586G	PMS2	NM_000535.7(PMS2):c.2175-1335_2445+4del	noncoding	Pathogenic
7	5977585	TACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGC	T	A5977586T	PMS2	NM_000535.7(PMS2):c.2276-1_2445+2del	noncoding	Pathogenic
7	5977593	TC	T	C5977595G	PMS2	NM_000535.7(PMS2):c.2439del:p.Lys814fs	coding	Pathogenic
7	5977595	CGGCA	C	A5977599T	PMS2	NM_000535.7(PMS2):c.2434_2437del:p.Cys812fs	coding	Pathogenic
7	5977632	A	AAGGC	C5977637A	PMS2	NM_000535.7(PMS2):c.2397_2400dup:p.Ser801fs	coding	Pathogenic
7	5977646	A	ACC	A5977651C	PMS2	NM_000535.7(PMS2):c.2385_2386dup:p.Val796fs	coding	Pathogenic
7	5977651	A	AGG	C5977655G	PMS2	NM_000535.7(PMS2):c.2380_2381dup:p.Gly795fs	coding	Pathogenic
7	5977659	CGCTCAGCATGAAGATCA	C	C5977661T	PMS2	NM_000535.7(PMS2):c.2357_2373del:p.Leu786fs	coding	Pathogenic
7	5977672	GATCAGTTC	G	A5977676G	PMS2	NM_000535.7(PMS2):c.2353_2360del:p.Glu785fs	coding	Pathogenic
7	5977691	T	TG	T5977696G	PMS2	NM_000535.7(PMS2):c.2341dup:p.Gln781fs	coding	Pathogenic
7	5977751	AC	A	C5977752T	PMS2	NM_000535.7(PMS2):c.2281del:p.Val761fs	coding	Pathogenic
7	5978580	CTAAT	C	T5978585A	PMS2	NM_000535.7(PMS2):c.2275+12_2275+15del	noncoding	Benign/Likely_benign
7	5978597	AT	A	T5978601C	PMS2	NM_000535.7(PMS2):c.2273del:p.Asn758fs	coding	Pathogenic
7	5978611	CA	C	A5978615T	PMS2	NM_000535.7(PMS2):c.2259del:p.Phe753fs	coding	Pathogenic
7	5978611	C	CA	T5978616A	PMS2	NM_000535.7(PMS2):c.2259dup:p.Val754fs	coding	Pathogenic
7	5978662	CT	C	T5978664C	PMS2	NM_000535.7(PMS2):c.2208del:p.Ala737fs	coding	Pathogenic
7	5978673	GC	G	C5978674A	PMS2	NM_000535.7(PMS2):c.2197del:p.Ala733fs	coding	Pathogenic
7	5978693	AG	A	G5978695T	PMS2	NM_000535.7(PMS2):c.2177del:p.Pro726fs	coding	Pathogenic
7	5978699	GA	G	A5978704C	PMS2	NM_000535.7(PMS2):c.2175-4del	noncoding	Benign/Likely_benign
7	5981725	TAC	GGT	T5981725G	PMS2	NM_000535.7(PMS2):c.2174+1097_2174+1099delinsACC	noncoding	Benign
7	5982862	CA	C	A5982863G	PMS2	NM_000535.7(PMS2):c.2135del:p.Leu712fs	coding	Pathogenic
7	5982878	TA	T	A5982879C	PMS2	NM_000535.7(PMS2):c.2119del:p.Tyr707fs	coding	Pathogenic
7	5982891	TG	T	G5982893C	PMS2	NM_000535.7(PMS2):c.2106del:p.Thr703fs	coding	Pathogenic
7	5982956	TG	T	G5982957A	PMS2	NM_000535.7(PMS2):c.2041del:p.Gln681fs	coding	Pathogenic
7	5982970	CAT	C	A5982971T	PMS2	NM_000535.7(PMS2):c.2026_2027del:p.Met676fs	coding	Pathogenic
7	5986756	TACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACC	T	A5986757T	PMS2	NM_000535.7(PMS2):c.1145-1_2006+2del	noncoding	Pathogenic
7	5986756	TACCTTATCTCTTTTCTTAGTTCATCTTCGGCTGCTTGATTTTCTCCAGGACAAATCTTTGCCCTAAACTTCCTGTAATTCTGTTCCCCTTCACTTTGCTGTGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGGCTTGTTCTCTGTTGTGTGACGAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTTAATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACGGAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTATGTGAACAGATACTTCACAAAAGAGGAGATCCACATGCTAATTACACAGATGAACACAGTTCAATGTTCAAAATAAAACTATAATATGGGCCAGGTGTGGTGGCTTACGCCTGTTATCCCAGCACTTTAGGAGGCCAAGGCAGGGGGATCACATGAGGCTAGGAGTTCAGGACTGGTCTGGACAACATGGTAAAACCCTGTTTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCATATCTGTCATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCCCTTTAGCCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGCCACCACTGCTCTCCAGCCTGGGTGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACCACAACACAATGCAATATGGCCATATACTCACCAGAATGGTAAAATTAAAAAAACAACAAATGCTCACAAAGATCAGGATCAAGAGGAATGCCTGAATACCTCTGGTAGGAATGAACCTGGTACAGCTGCTTTGAAAAGTTCTCTGGGAATACCTCCTAAATCTGAATGTATGCACACCTGCAACCCAGCATAGCTACTCCTATCAGAAGTGCCTATTGGCCGGCACAGTGGCTCACGCCTGTAATCCTAGCCCTTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAATTAGCAGGGCATAGTGGAATGCACTTATAATCCCAGCTACTAGGGAGAATGAGAATGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGGGTTGCAGCGAGCCAAGATCACTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAAAAAGAAAGAAGTGCCTATCTATGCTCGTCAAAAAG	T	C5986759G	PMS2	NM_000535.7(PMS2):c.1145-982_2006+2del	noncoding	Pathogenic
7	5986759	C	CT	A5986762T	PMS2	NM_000535.7(PMS2):c.2005dup:p.Ser669fs	coding	Pathogenic
7	5986807	CA	C	A5986810T	PMS2	NM_000535.7(PMS2):c.1957del:p.Cys653fs	coding	Pathogenic
7	5986820	TA	T	A5986823C	PMS2	NM_000535.7(PMS2):c.1944del:p.Phe648fs	coding	Pathogenic
7	5986826	TC	T	C5986828T	PMS2	NM_000535.7(PMS2):c.1938del:p.Lys647fs	coding	Pathogenic/Likely_pathogenic
7	5986840	TC	T	C5986844T	PMS2	NM_000535.7(PMS2):c.1924del:p.Glu642fs	coding	Pathogenic
7	5986855	TG	T	G5986856T	PMS2	NM_000535.7(PMS2):c.1909del:p.Gln637fs	coding	Pathogenic
7	5986868	G	GT	A5986870T	PMS2	NM_000535.7(PMS2):c.1896dup:p.His633fs	coding	Pathogenic
7	5986877	TTATTCGTTTAGCTAAAGAACTCA	T	T5986880G	PMS2	NM_000535.7(PMS2):c.1865_1887del:p.Met622fs	coding	Pathogenic
7	5986903	GA	G	A5986907G	PMS2	NM_000535.7(PMS2):c.1861del:p.Ser621fs	coding	Pathogenic
7	5986905	A	AAT	A5986907T	PMS2	NM_000535.7(PMS2):c.1859_1860insAT:p.Phe620fs	coding	Pathogenic
7	5986912	AG	A	G5986916C	PMS2	NM_000535.7(PMS2):c.1852del:p.Leu618fs	coding	Pathogenic
7	5986921	ACTTT	A	T5986925A	PMS2	NM_000535.7(PMS2):c.1840_1843del:p.Lys614fs	coding	Pathogenic
7	5986922	CT	C	T5986925C	PMS2	NM_000535.7(PMS2):c.1842del:p.Val615fs	coding	Pathogenic
7	5986931	TA	T	A5986933T	PMS2	NM_000535.7(PMS2):c.1833del:p.Asn612fs	coding	Pathogenic
7	5986931	T	TA	T5986934A	PMS2	NM_000535.7(PMS2):c.1833dup:p.Asn612Ter	coding	Pathogenic
7	5986933	AT	A	T5986937C	PMS2	NM_000535.7(PMS2):c.1831del:p.Ile611fs	coding	Pathogenic
7	5986948	TC	T	C5986949A	PMS2	NM_000535.7(PMS2):c.1816del:p.Asp606fs	coding	Pathogenic
7	5986951	AC	A	C5986953T	PMS2	NM_000535.7(PMS2):c.1813del:p.Val605fs	coding	Pathogenic
7	5987008	GA	G	A5987011G	PMS2	NM_000535.7(PMS2):c.1756del:p.Ser586fs	coding	Pathogenic
7	5987014	AT	A	T5987017C	PMS2	NM_000535.7(PMS2):c.1750del:p.Ile584fs	coding	Pathogenic
7	5987021	C	CT	A5987028T	PMS2	NM_000535.7(PMS2):c.1743dup:p.Glu582fs	coding	Pathogenic
7	5987043	T	TG	T5987048G	PMS2	NM_000535.7(PMS2):c.1721dup:p.Asn575fs	coding	Pathogenic
7	5987053	AG	A	G5987054A	PMS2	NM_000535.7(PMS2):c.1711del:p.Leu571fs	coding	Pathogenic
7	5987057	TAGTTGGCTGAGGCAAAACTCGAAATTTAC	T	G5987059T	PMS2	NM_000535.7(PMS2):c.1679_1707del:p.Gly559_Cys560insTer	coding	Pathogenic
7	5987058	A	TT	A5987058T	PMS2	NM_000535.7(PMS2):c.1707delinsAA:p.Asn570fs	coding	Pathogenic
7	5987060	TTGGCTGAGGCAAAACTCGAAATTTACATCC	CT	T5987060C	PMS2	NM_000535.7(PMS2):c.1675_1705delinsAG:p.Gly559fs	coding	Pathogenic
7	5987070	CA	C	A5987074C	PMS2	NM_000535.7(PMS2):c.1694del:p.Leu565fs	coding	Pathogenic
7	5987086	CA	C	A5987087T	PMS2	NM_000535.7(PMS2):c.1678del:p.Cys560fs	coding	Pathogenic
7	5987158	TGA	T	A5987162T	PMS2	NM_000535.7(PMS2):c.1605_1606del:p.Gln536fs	coding	Pathogenic
7	5987193	TG	T	G5987197A	PMS2	NM_000535.7(PMS2):c.1571del:p.Pro524fs	coding	Pathogenic
7	5987217	GCTGCAGTGACTGCC	G	T5987219G	PMS2	NM_000535.7(PMS2):c.1534_1547del:p.Gly512fs	coding	Pathogenic
7	5987359	CTCAGGACGCCTTTGTCAGAGATGGCACCTG	C	T5987360A	PMS2	NM_000535.7(PMS2):c.1376_1405del:p.Ser459_Arg469delinsTer	coding	Pathogenic
7	5987420	GTCCTAGAGGGC	G	A5987425T	PMS2	NM_000535.7(PMS2):c.1334_1344del:p.Ser445fs	coding	Pathogenic
7	5987491	G	GAAAAGGCCTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	C5987505G	PMS2	NM_000535.7(PMS2):c.1273_1274insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGCCTTTT:p.Ser425delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer	coding	Pathogenic
7	5987510	TG	T	G5987512A	PMS2	NM_000535.7(PMS2):c.1254del:p.Arg419fs	coding	Pathogenic
7	5987518	GAC	G	A5987521G	PMS2	NM_000535.7(PMS2):c.1245_1246del:p.Ser416fs	coding	Pathogenic
7	5987525	C	CTT	C5987534T	PMS2	NM_000535.7(PMS2):c.1238_1239dup:p.Asp414fs	coding	Pathogenic
7	5987525	CT	C	T5987533C	PMS2	NM_000535.7(PMS2):c.1239del:p.Asp414fs	coding	Pathogenic
7	5987547	T	TA	T5987550A	PMS2	NM_000535.7(PMS2):c.1217dup:p.Leu406fs	coding	Pathogenic
7	5987553	AGG	A	G5987556A	PMS2	NM_000535.7(PMS2):c.1210_1211del:p.Pro404fs	coding	Pathogenic
7	5987563	TC	T	C5987565T	PMS2	NM_000535.7(PMS2):c.1201del:p.Asp401fs	coding	Pathogenic
7	5987568	CT	C	T5987572C	PMS2	NM_000535.7(PMS2):c.1196del:p.Lys399fs	coding	Pathogenic
7	5987605	AT	A	T5987610A	PMS2	NM_000535.7(PMS2):c.1159del:p.Met387fs	coding	Pathogenic
7	5987610	TA	T	A5987611T	PMS2	NM_000535.7(PMS2):c.1154del:p.Ile385fs	coding	Pathogenic
7	5987613	TAA	T	A5987614G	PMS2	NM_000535.7(PMS2):c.1150_1151del:p.Leu384fs	coding	Pathogenic
7	5987616	GT	G	T5987618A	PMS2	NM_000535.7(PMS2):c.1148del:p.Asn383fs	coding	Pathogenic
7	5989797	TACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTC	T	A5989798T	PMS2	NM_000535.7(PMS2):c.989-1_1144+2del	noncoding	Pathogenic
7	5989798	AC	A	C5989800T	PMS2	NM_000535.7(PMS2):c.1144+1del	noncoding	Pathogenic/Likely_pathogenic
7	5989849	ACTATCAAACATTC	A	C5989858G	PMS2	NM_000535.7(PMS2):c.1082_1094del:p.Gly361fs	coding	Pathogenic
7	5989864	TA	T	A5989865T	PMS2	NM_000535.7(PMS2):c.1079del:p.Ile360fs	coding	Pathogenic
7	5989879	TA	T	A5989883C	PMS2	NM_000535.7(PMS2):c.1064del:p.Val354_Leu355insTer	coding	Pathogenic
7	5989891	CA	C	A5989895G	PMS2	NM_000535.7(PMS2):c.1052del:p.Leu351fs	coding	Pathogenic
7	5989897	C	CT	C5989902T	PMS2	NM_000535.7(PMS2):c.1046dup:p.Leu350fs	coding	Pathogenic
7	5989897	CT	C	T5989901C	PMS2	NM_000535.7(PMS2):c.1046del:p.Lys349fs	coding	Pathogenic
7	5989903	CT	C	T5989904C	PMS2	NM_000535.7(PMS2):c.1040del:p.Glu347fs	coding	Pathogenic
7	5989919	TG	T	G5989920C	PMS2	NM_000535.7(PMS2):c.1024del:p.Gln342fs	coding	Pathogenic
7	5989922	C	CT	A5989927T	PMS2	NM_000535.7(PMS2):c.1021dup:p.Arg341fs	coding	Pathogenic
7	5989926	T	TC	A5989927C	PMS2	NM_000535.7(PMS2):c.1017_1018insG:p.Lys340fs	coding	Pathogenic
7	5989933	AG	A	G5989934T	PMS2	NM_000535.7(PMS2):c.1010del:p.Thr337fs	coding	Pathogenic
7	5989934	G	GT	A5989936T	PMS2	NM_000535.7(PMS2):c.1009dup:p.Thr337fs	coding	Pathogenic
7	5991970	TACCTGAATCAACAGAAATGTTAAGAACAACAAATGGATACTGGTGTCGATTATACATGTGGTAGACCTCATTCACGAGTCTGCAGACCTGCACAAAATACAAGGAGTAGAAAAGAATAAATGACAAATGTTCCCAGCCCCCCGCATTCTAACAACATTCTATTCTAACCAACCAGCATGTTCTTAGAAGGGGATACTTTTTTGTTTTTTTTTTTTTTGAGTCAAGGTCTCGCCTTGTCACAGCCTGGAGTGCAGTGGAGCAATCATGGCTCACTGCAGCCTCAACC	T	A5991971T	PMS2	NM_000535.7(PMS2):c.904-199_988+2del	noncoding	Pathogenic
7	5991973	C	CT	G5991975T	PMS2	NM_000535.7(PMS2):c.987dup:p.Glu330fs	coding	Pathogenic
7	5992000	CA	C	A5992003T	PMS2	NM_000535.7(PMS2):c.960del:p.Phe320fs	coding	Pathogenic
7	5992002	AATGGATACTGGTGTCGATTATAC	A	G5992006T	PMS2	NM_000535.7(PMS2):c.936_958del:p.Met312fs	coding	Pathogenic
7	5992048	GTC	G	C5992050G	PMS2	NM_000535.7(PMS2):c.911_912del:p.Arg304fs	coding	Pathogenic
7	5995516	C	CA	T5995524A	PMS2	NM_000535.7(PMS2):c.903+17dup	noncoding	Benign/Likely_benign
7	5995523	AT	A	T5995527A	PMS2	NM_000535.7(PMS2):c.903+10del	noncoding	Benign
7	5995531	TACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACATGGCACATTCTTAAAGTGAAATGAAAACAAAACACCAGGTGACATGCTGATAAGGATCACTATTGCAGTTCACGGGTATCTGTGCTCCAAATCTTGATGAGTCATCAAAGAACCAAACCTTCTGGAATATTCTAAAGCTCCTACAGTCAACCAATGCACCACAGGTGATGCAGTGCGTCCAAAACTGATGTGTTGCAGCTCTC	T	A5995532C	PMS2	NM_000535.7(PMS2):c.804-267_903+2del	noncoding	Pathogenic
7	5995534	CT	C	T5995537G	PMS2	NM_000535.7(PMS2):c.902del:p.Lys301fs	coding	Pathogenic
7	5995537	T	TG	C5995539G	PMS2	NM_000535.7(PMS2):c.899dup:p.Val302fs	coding	Pathogenic
7	5995567	GA	G	A5995572C	PMS2	NM_000535.7(PMS2):c.869del:p.Phe290fs	coding	Pathogenic
7	5995571	A	AACAG	T5995574A	PMS2	NM_000535.7(PMS2):c.865_866insCTGT:p.Phe289fs	coding	Pathogenic
7	5995581	CTGTT	C	T5995582G	PMS2	NM_000535.7(PMS2):c.852_855del:p.Arg287fs	coding	Pathogenic
7	5995605	GC	G	C5995606G	PMS2	NM_000535.7(PMS2):c.831del:p.His278fs	coding	Pathogenic
7	5995606	C	CT	G5995607T	PMS2	NM_000535.7(PMS2):c.830_831insA:p.His278fs	coding	Pathogenic
7	5995610	CATTGTGAAATGAAA	C	A5995611C	PMS2	NM_000535.7(PMS2):c.813_826del:p.Phe272fs	coding	Pathogenic
7	5997325	C	CTATTT	A5997328T	PMS2	NM_000535.7(PMS2):c.803_804insAAATA:p.Tyr268Ter	noncoding	Pathogenic
7	5997326	TAA	T	A5997331G	PMS2	NM_000535.7(PMS2):c.801_802del:p.Phe267fs	coding	Pathogenic
7	5997329	A	AATTT	A5997331T	PMS2	NM_000535.7(PMS2):c.799_800insAAAT:p.Phe267Ter	coding	Pathogenic
7	5997349	GGA	CG	G5997349C	PMS2	NM_000535.7(PMS2):c.778_780delinsCG:p.Ser260fs	coding	Pathogenic
7	5997361	AC	A	C5997363G	PMS2	NM_000535.7(PMS2):c.767del:p.Gly256fs	coding	Pathogenic
7	5997371	T	TCA	G5997379A	PMS2	NM_000535.7(PMS2):c.756_757dup:p.Glu253fs	coding	Pathogenic
7	5997387	T	TCTTCACACAC	A5997388C	PMS2	NM_000535.7(PMS2):c.741_742insGTGTGTGAAG:p.Ser248fs	coding	Pathogenic
7	5997388	A	AG	C5997394G	PMS2	NM_000535.7(PMS2):c.740dup:p.Pro247_Ser248insTer	coding	Pathogenic
7	5997388	AG	A	G5997393C	PMS2	NM_000535.7(PMS2):c.740del:p.Pro247fs	coding	Pathogenic
7	5997388	AGGGGG	A	G5997389C	PMS2	NM_000535.7(PMS2):c.736_740del:p.Leu245_Pro246insTer	coding	Pathogenic
7	5997388	AGGGGG	TTCACACACAC	A5997388T	PMS2	NM_000535.7(PMS2):c.736_741delinsGTGTGTGTGAA:p.Pro246fs	coding	Pathogenic
7	5997393	G	GC	A5997395C	PMS2	NM_000535.7(PMS2):c.735dup:p.Pro246fs	coding	Pathogenic
7	5997396	GC	G	C5997397T	PMS2	NM_000535.7(PMS2):c.732del:p.Gln244fs	coding	Pathogenic
7	5997402	CA	C	A5997406G	PMS2	NM_000535.7(PMS2):c.726del:p.Phe242fs	coding	Pathogenic/Likely_pathogenic
7	5997411	TGAGGCTTT	A	T5997411A	PMS2	NM_000535.7(PMS2):c.710_718delinsT:p.Gln237fs	coding	Pathogenic
7	5997415	GC	G	C5997416T	PMS2	NM_000535.7(PMS2):c.713del:p.Ser238fs	coding	Pathogenic
7	5997419	TGCA	T	G5997420A	PMS2	NM_000535.7(PMS2):c.707_709del:p.Leu236_Gln237delinsTer	coding	Pathogenic
7	5997426	GAAAA	G	A5997440T	PMS2	NM_000535.7(PMS2):c.706-7_706-4del	noncoding	Benign
7	5999123	C	CACAGAGCCGAT	T5999136C	PMS2	NM_000535.7(PMS2):c.679_689dup:p.Phe231fs	coding	Pathogenic
7	5999149	TG	T	G5999153C	PMS2	NM_000535.7(PMS2):c.663del:p.Ser222fs	coding	Pathogenic
7	5999214	AC	A	C5999215A	PMS2	NM_000535.7(PMS2):c.598del:p.Arg199_Val200insTer	coding	Pathogenic
7	5999217	C	CG	A5999220G	PMS2	NM_000535.7(PMS2):c.595dup:p.Arg199fs	coding	Pathogenic
7	5999236	TA	T	A5999237C	PMS2	NM_000535.7(PMS2):c.576del:p.Tyr191_Cys192insTer	coding	Pathogenic
7	5999245	CAT	C	A5999246G	PMS2	NM_000535.7(PMS2):c.566_567del:p.His189fs	coding	Pathogenic
7	5999256	TG	T	G5999258A	PMS2	NM_000535.7(PMS2):c.556del:p.Gln186fs	coding	Pathogenic
7	5999315	A	ATATTATAGGAAT	A5999316T	PMS2	NM_000535.7(PMS2):c.538-41_538-40insATTCCTATAATA	noncoding	Pathogenic
7	6002455	TC	T	C6002456T	PMS2	NM_000535.7(PMS2):c.534del:p.Lys179fs	coding	Pathogenic
7	6002464	TC	T	C6002466T	PMS2	NM_000535.7(PMS2):c.525del:p.Asn176fs	coding	Pathogenic
7	6002477	CT	C	T6002479A	PMS2	NM_000535.7(PMS2):c.512del:p.Lys171fs	coding	Pathogenic
7	6002532	CT	C	T6002533G	PMS2	NM_000535.7(PMS2):c.457del:p.Arg153fs	coding	Pathogenic/Likely_pathogenic
7	6002533	TGGGGC	T	C6002538G	PMS2	NM_000535.7(PMS2):c.452_456del:p.Arg151fs	coding	Pathogenic
7	6002538	C	CG	T6002544G	PMS2	NM_000535.7(PMS2):c.451dup:p.Arg151fs	coding	Pathogenic
7	6002538	C	TG	C6002538T	PMS2	NM_000535.7(PMS2):c.452delinsCA:p.Arg151fs	coding	Pathogenic
7	6002545	AG	A	G6002550T	PMS2	NM_000535.7(PMS2):c.444del:p.Tyr149fs	coding	Pathogenic
7	6002550	GT	G	T6002554C	PMS2	NM_000535.7(PMS2):c.439del:p.Thr147fs	coding	Pathogenic
7	6002560	TA	T	A6002562T	PMS2	NM_000535.7(PMS2):c.429del:p.Ile144fs	coding	Pathogenic
7	6002566	TC	T	C6002569A	PMS2	NM_000535.7(PMS2):c.423del:p.Ile143fs	coding	Pathogenic
7	6002598	AC	A	C6002600T	PMS2	NM_000535.7(PMS2):c.391del:p.Val131fs	coding	Pathogenic
7	6002600	CTT	AGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCTCGCTTTGGCCTCCCAAAGTGCTGGAATTACAGGCACTTTGGGCTGGAATTACA	C6002600A	PMS2	NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT:p.Lys130delinsCysAsnSerSerProLysCysLeuTer	coding	Pathogenic
7	6002621	AG	A	G6002622A	PMS2	NM_000535.7(PMS2):c.368del:p.Ser123fs	coding	Pathogenic
7	6003715	CT	C	T6003717C	PMS2	NM_000535.7(PMS2):c.327del:p.Ala110fs	coding	Pathogenic
7	6003717	TCC	T	C6003722G	PMS2	NM_000535.7(PMS2):c.324_325del:p.Glu109fs	coding	Pathogenic
7	6003723	CG	C	G6003724A	PMS2	NM_000535.7(PMS2):c.319del:p.Arg107fs	coding	Pathogenic
7	6003772	T	TA	G6003774A	PMS2	NM_000535.7(PMS2):c.270dup:p.Lys91Ter	coding	Pathogenic
7	6003775	A	ATATC	G6003777A	PMS2	NM_000535.7(PMS2):c.267_268insGATA:p.Ser90fs	coding	Pathogenic
7	6003979	T	TTCGA	A6003984T	PMS2	NM_000535.7(PMS2):c.239_242dup:p.Glu81fs	coding	Pathogenic
7	6004007	CCATT	C	C6004008G	PMS2	NM_000535.7(PMS2):c.211_214del:p.Asn71fs	coding	Pathogenic
7	6004007	C	CTGAAACTT	C6004008T	PMS2	NM_000535.7(PMS2):c.214_215insAAGTTTCA:p.Gly72fs	coding	Pathogenic/Likely_pathogenic
7	6004012	GTC	G	C6004014G	PMS2	NM_000535.7(PMS2):c.208_209del:p.Asp70fs	coding	Pathogenic
7	6004016	GA	G	A6004019C	PMS2	NM_000535.7(PMS2):c.205del:p.Ser69fs	coding	Pathogenic
7	6005955	TCAGTACCA	T	A6005957C	PMS2	NM_000535.7(PMS2):c.92_99del:p.Val31fs	coding	Pathogenic
7	6005970	CA	C	A6005971G	PMS2	NM_000535.7(PMS2):c.84del:p.Gln30fs	coding	Pathogenic
7	6005975	CA	C	A6005978T	PMS2	NM_000535.7(PMS2):c.79del:p.Cys27fs	coding	Pathogenic
7	6005999	TCAATA	T	C6006000G	PMS2	NM_000535.7(PMS2):c.51_55del:p.Ile18fs	coding	Pathogenic
7	6006012	TG	T	G6006014C	PMS2	NM_000535.7(PMS2):c.42del:p.Ile15fs	coding	Pathogenic
7	6009002	G	GCT	A6009008T	PMS2	NM_000535.7(PMS2):c.16_17dup:p.Ser6fs	coding	Pathogenic
7	6009006	T	TCAGCTCGCTCC	A6009018C	PMS2	NM_000535.7(PMS2):c.3_13dup:p.Glu5fs	coding	Pathogenic
7	6009007	C	CA	G6009009A	PMS2	NM_000535.7(PMS2):c.12dup:p.Glu5Ter	coding	Pathogenic
7	6009512	G	GC	G6009519C	AIMP2	NM_006303.4(AIMP2):c.135+20dup	noncoding	Benign
7	6466226	T	TG	T6466230G	KDELR2	NM_006854.4(KDELR2):c.448dup:p.His150fs	coding	Pathogenic
7	12218440	T	TA	C12218442A	TMEM106B	NM_001134232.2(TMEM106B):c.218-17dup	noncoding	Benign
7	12229634	A	ATGTT	A12229636G	TMEM106B	NM_001134232.2(TMEM106B):c.442-44_442-43insGTTT	noncoding	Benign
7	12229667	C	CT	G12229675T	TMEM106B	NM_001134232.2(TMEM106B):c.442-5dup	noncoding	Benign
7	12230457	TAAC	T	A12230458T	TMEM106B	NM_001134232.2(TMEM106B):c.632+20_632+22del	noncoding	Benign
7	16091614	C	CCA	G16091623C	CRPPA	NM_001101426.4(CRPPA):c.*73TG[5]	noncoding	Benign/Likely_benign
7	16258960	TG	T	G16258961C	CRPPA	NM_001101426.4(CRPPA):c.985del:p.Gln329fs	coding	Pathogenic
7	16308895	T	TA	T16308903A	CRPPA	NM_001101426.4(CRPPA):c.685-275dup	noncoding	Benign
7	16376143	ACTTGCTCTGTGTC	TGTT	A16376143T	CRPPA	NM_001101426.4(CRPPA):c.620_633delinsAACA:p.Arg207fs	coding	Pathogenic
7	16421268	TC	GCA	T16421268G	CRPPA	NM_001101426.4(CRPPA):c.54_55delinsTGC:p.Ser19fs	coding	Pathogenic
7	16421270	A	AG	C16421273G	CRPPA	NM_001101426.4(CRPPA):c.52dup:p.Leu18fs	coding	Pathogenic
7	17322487	C	CT	C17322495T	AHR	NM_001621.5(AHR):c.254-7dup	noncoding	Benign
7	19116813	G	GA	G19116815A	TWIST1	NM_000474.4(TWIST1):c.508dup:p.Ser170fs	coding	Pathogenic
7	19116873	TTGAGGGTCTGAA	T	G19116875C	TWIST1	NM_000474.4(TWIST1):c.437_448del:p.Ile146_Leu149del	coding	Pathogenic
7	19116901	C	CCGAGGGCAGCGTGGGGATGAT	T19116924G	TWIST1	NM_000474.4(TWIST1):c.400_420dup:p.Ile134_Ser140dup	coding	Pathogenic/Likely_pathogenic
7	19116906	G	GGCAGCGTGGGGATGATCTTCC	C19116934T	TWIST1	NM_000474.4(TWIST1):c.395_415dup:p.Arg132_Leu138dup	coding	Pathogenic
7	19116916	GGAT	G	G19116920C	TWIST1	NM_000474.4(TWIST1):c.400ATC[1]:p.Ile135del	coding	Pathogenic
7	19116982	T	TGG	C19116985G	TWIST1	NM_000474.4(TWIST1):c.338_339dup:p.Asn114fs	coding	Pathogenic
7	19117213	GT	G	T19117214C	TWIST1	NM_000474.4(TWIST1):c.108del:p.Arg37fs	coding	Pathogenic
7	19117248	TCTGGCTCTTCCTCGCTGTTG	T	G19117251C	TWIST1	NM_000474.4(TWIST1):c.54_73del:p.Ser18fs	coding	Pathogenic
7	21544683	AT	A	T21544686C	DNAH11	NM_001277115.2(DNAH11):c.352-320del	noncoding	Benign
7	21558694	G	GGAT	A21558698G	DNAH11	NM_001277115.2(DNAH11):c.496-107_496-105dup	noncoding	Benign
7	21559766	G	GA	T21559771A	DNAH11	NM_001277115.2(DNAH11):c.860dup:p.Asn287fs	coding	Pathogenic
7	21561149	A	AT	C21561155T	DNAH11	NM_001277115.2(DNAH11):c.966dup:p.Leu323fs	coding	Pathogenic
7	21561447	TA	T	A21561459T	DNAH11	NM_001277115.2(DNAH11):c.982+289del	noncoding	Benign
7	21564132	G	GA	C21564147A	DNAH11	NM_001277115.2(DNAH11):c.983-40dup	noncoding	Benign
7	21570187	GA	G	A21570194T	DNAH11	NM_001277115.2(DNAH11):c.1320del:p.Lys440fs	coding	Pathogenic
7	21571680	TATTTTCTGTC	T	T21571694G	DNAH11	NM_001277115.2(DNAH11):c.1426-112_1426-103del	noncoding	Benign
7	21571854	TTTGGTGGTACCAAAGGAGCAATTTTAAATGGACAAGTCCACGAGATGAGTGAAGAACTTATGGAACTCTGTAAACTTTTTAAACAGAGCACTTATGACCCATCTGATTGCACTAACATGGTAATGTTGTACCTTTGCATTTTCATTGCATGGGATCCTATAATTTTATAGCTGAAAAGGAAGATAGGTCACAGTGATAATAGGGACCATCCATTCCAATATCTCTAGGACCAAAAGAGGTTACATGACTTGCCTGAAGTCTTGTAGCTACTTAGTTAGTAGATCAGGGATCAGAACTTAAGCTTTTGCATTTTCAGTTCAGAATGACGGCTGATAAAACTGCAGACCTCAGTCTGGATTTGTATCTTGTTTGTGTATGCTAAACAGAAACTTTCCACATGAATTCATTTTGATCTGATGTCCATGTAACTCGTGCTTTATTTTAGCATTTTCTTGAATCACTGGATGTTTTGTTTTTTGATTCACCTGAACACTTGCTTTCACCCCAGTCATTAAGTGTATCATTTACATGTTGGTTGTTTCTTATAATTTTTGTTATTCTTGAGAGCTGATTATAATTTCATATTTCCAACCACAGGAAAGGGGGAACCTTTCTGATTTAAGCTGCTTCTGTGCTCTGTCAGTTCCAGCATGTTAGTAGCCAGGGAGCTACCTGTGAGCATCCCTGCAGTTCTAGGATAAAAATAGCTTCATTTTAGTAGTTTGCCAAGAACAGCGAAGCCCAAGTCCAAAAGAATGAAGATTTAGCTCTTGTTCTTATTATTGTATATGTAATGTGAGTTTATTCACTATTGTTTATATTTGGCCAAACAATTGATTCTTTGAAGTGTACGAGTGCAGTATGTTAGCTTTATAAGGATGTAGTTAGCAAACTTAAGCCCTCTGAATTATAGTCAGTTTTGGAAAGTGGAGTTAATGGTAGAAGGACACTGCTGTAATAGGTGACTTTTTGCTAAACCAGGGCACTACACTTTGTGAAAAAGTATGAGGAACCTAGGATCATGGTGATGAATAATTTGAGTGAGCTCATCCCCAAAGCCTTGTA	T	T21571855A	DNAH11	NM_001277115.2(DNAH11):c.1475_1593+946del	coding	Pathogenic
7	21590736	TTACTA	T	C21590739T	DNAH11	NM_001277115.2(DNAH11):c.2170-179_2170-175del	noncoding	Benign
7	21600049	T	TA	T21600051A	DNAH11	NM_001277115.2(DNAH11):c.2931dup:p.Cys978fs	coding	Pathogenic
7	21601537	CTT	C	T21601539G	DNAH11	NM_001277115.2(DNAH11):c.3569_3570del:p.Leu1189_Phe1190insTer	coding	Pathogenic
7	21606615	C	CT	G21606636T	DNAH11	NM_001277115.2(DNAH11):c.3766-12dup	noncoding	Benign
7	21606615	C	CTT	G21606636T	DNAH11	NM_001277115.2(DNAH11):c.3766-13_3766-12dup	noncoding	Benign
7	21606615	CT	C	T21606635G	DNAH11	NM_001277115.2(DNAH11):c.3766-12del	noncoding	Benign
7	21606615	CTTT	C	T21606633G	DNAH11	NM_001277115.2(DNAH11):c.3766-14_3766-12del	noncoding	Benign
7	21606615	CTTTT	C	T21606632G	DNAH11	NM_001277115.2(DNAH11):c.3766-15_3766-12del	noncoding	Benign
7	21606664	CAG	C	G21606672T	DNAH11	NM_001277115.2(DNAH11):c.3791_3792del:p.Arg1264fs	coding	Pathogenic
7	21612907	ATGATTATCGCGAGAAATGCCAAAAGAACTTTAGCTATCATTCAACATTCATTCATGATAGAAACACTTAGCAGCCATTTTTTACCTAATAAAAGAATGAAAACTCTACGTAAAATACTATACGATAGGGAACGTGAAAATTTCCAGAAGCATTAGTAATAAGGGTGAAACATAGGAAAAGACAAAATGACTATCAGAAGTAAAAAAAAATAGTGTGTATTCATATAATGTAGTACTATGCAGTAGGGGAAATGAACTTCACACACATCATCATGAATATATAGGTGGACATAAATATCAATTGAAATGTGATATATGTAGTAAACTGCATTTCACAAACATAAATTTTAACATTTAGCGCTTAGCAATACATTAATGTGAAAATATTATAAAAATTAGATTATTAAATAAAAAGGTAGGTTTTGTGGTTAAATATGTAGTAGGGAAAAGAGGGATGAAATTAAGAAAAGGCATTAAAAATTATTAGTCATATTTCTTAGGCTAGGTGGGGAACAAACGCATATATCCTTTTATGTGTATAAAATGTTTCATAATAAAACATTTTAAAACTAAAAGAATTGCAGTTCTTGTATGTGAAGATATAACTTGTAAAAATGAAAGCAGGATGCTAATACTCTTCTTTACATAGTAGGAAATGAAGAGACAGAGTTGGGGTTGGGGAGATGTTAGTTCACAAGACTTCTTGTACAATATGGTGACTATAGTTAATAGCAACGTACTGTATTTTGAAAATTGCTGAGTAGATTTTAAGTGTTCTCACCACAAAAAGTGTGAGATGATGAAGTATGTGAGATAATGCATATATTAATTAGCTCTATAGAGCCATTTCACAATATATAGATTTTTTGTTTTGTTGAGACAGGGTCTCACTCTGACCAGGCTGTAGTGCAGTGGTACAATTTCAACTCAGTGCAGCCTCAACCTTCCCTGATCTTACTTAGGTCATTCTCCCACCTCAGCCTCCCGAGTAACTGGGACTATAGGCACATGCCACCATGCCCAGCTAATTTTTTTTTTTTTTGCACTTTTAATAGAGATGAGGTTTTGCTACATTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCACCTACTGTGACTTCCCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCCCAGCCTCGCAATTCCAAAGCATCATGTTGTACGTGATAAATATATACAATTTTTATTTGTCAATTGAAAAAGAGTTGAAGGTTGATGGAACATAAAAGCATTAAGTATAGGTATTTAAAGTTCAAAGAAACTAAAGTAATACAATTGTTGGATCTTGGGAGGAGGATGGGAGAAAATAGAAAGTGGAAAAACAAAGTCAAATCCTTCTTTTGCAAAGCCAGTAGTAACCTAGTATAATGTCTAAACGTGATCAATCAACAAAGAGCAGCTTGAGCACAGAATTGGAAGTTACAGAAATAGCATCCAAAAGAATGACTGAACCTGAAGGATTGCTTTCCTGCCTTGCAAGTGCTCCTCTACACCTTGAACTTTTACCATGTAAGCATAGTACCATTTTGTTAATTAAAGATGAAAATTAAGACTTGGTCATCACAAAAGAAAAAACATGTCAGCATTTACGTTTGGTGTAAAATGTAAACTATTCTATGTAGATGGGGTATATAATTGAACCTTGATAAAGACAGTCATATGGTGATGTTTTCATACTGGGCTGTGTTTTTAGCTTTATGCTTTATTTCACAAATTCTCTTGAGTGCATTTGATATTATTGATAATCTGTAGGGTATTTTTTAAATCTGAAAGTTTTAATAAACTAAGTCATTACTTAAAATATAATTCATTCTTACATGGAAGTTTCTAGAGCCCCACCTTTTGTTCTTCAGCAAATTCCCCAGCTCTCGGTACAAAAACCAAGAGGAAAAATTGTATTCAGAGAAATCTGATGAAGAAGAAATTTTGCTAATACGTGTATAGGGACAGTATTGTTGAAGTTACTGTGTTTAACAGTAATCTGTTCTCACTTTTTGTGCAGCTGAGTTTGCTCTTCTAAAACCTACATTTTGCCAGTAATTACGCTGCAGATTTATTTTTATTTTCCCGTTAAAAATCAAAGATTGAAATGTCGAGATAACCAGAGCTACAGAACTGCATGTCTTCTCTTTCTCTGGCAGTTTGTATGCAGGTGTTTATGTTCTCTCCTTAGGCAAATGAAGAGCTTGAGGCCTTAGAAGAAGAAATGTTGCAGATGCAAGAATCTACTCGTCTTTTTGAAGTGGCTCTTCCAGAGTACAAACAAATGAAACAGTGTCGCAAAGAAATAAAATTGCTCAAGGGACTGTGGGATGTCATTATTTATGTTCGAGTAAGATGTGCTTTTTCAAAACATGCTTTTTATTTAGTAGTTCTTTTACATATGCAGTTTGTGGAGCCTATATTATTCTATTTGGGTTTTATAATGTCTTGAAATATGTGGAAATTAGATCCTCACCCCAGCCCCAAATTAGAGTTCATGTATCTCTGTTAGTGGATGATTCTTCTTTGAATACCAGTTGTTTTTATTTTTAGTTCAGGATGAAACTTTGTTTAATAAGCTGACTGCCTCAAATCCTTTGGGGAGATTGTAAAGAATATAAATAAAATAAAAATTAATATATAAATATATATTACATGTGTAGTCATCTGTGCATACCAACTCATACATATTCCTATGCTTATACTTACATGCCTGGGCATACACAAACAGACCCTTCCTAAAAATAATTTGTATGTGGTTAATTAAGTTAAAAACTTAAGTGAAAAAGTAAGTTCTAGGGAATGAGGCATATTGCAACAAGCACTATAATCTTTTATGTTAGTTGAAAGCCATATAGAAATATATTAACAAAATATAAAATATGGTCAAGAAATGGTTGATGAGAGTTTTGTTTATAATGGTTGAAAATTGTCATGTGAAAGCTTATTTAGTTACATGTAGAATTATAAAAGTCTGTTATTTAATAATCTACTTATCAATTTATTCAAAGTACACAGGATTAAGTGATAATGATGGTATGTGTATGGAATTTATCATCGCTACTAGAAATTAATATATCATAATGTTTTAGCCTTTAGCTTGACGTGTTCTGACAACTTTTTTGTTTTGGTGATAGGGAAGTTTTGACAAGTGCAGTTAATATTTTAAAAATTGACTTTCCACTGGATGATAGAGTTACAGTGTATCATCAGTTTATATATTTTGCTGCAGAGACTTGCTTTCACCAAATGTTGTTGACACTTTTATCTGCTTTTGCGTTTTCAGAGAAGCATTGATAATTGGACTAAAACCCAGTGGAGACAGATTCATGTGGAACAGATGGATGTAGAACTCAGAAGGTTTGCCAAGGCGAGTTCCATAACTGTCTATTACAACAATTTATCTTTCTCAGCACCACCTCCTTCCATCTTCCCTAATCTAGTATCTGGTGTATTGGGCTGCATGTACTTATTTACTTCTAACAGAGTGATAGCAGACAGTGTTTTTTTCACCCTTAGCCAGTTGCACTTCTAATCAAGCCTGTCTTTCTGTGAGTGAGTTGATAGAAGCATATTAGGGTTAATGAATTTATGAGAAGCTACTCTAATTATGAGCTTCCTACAGCTTCCTAGAACAGAGAGGAACATTATCAGGGCCAAGGGGTCAGGCTTCTGAAAGCTTTTGATTTCTTTGCTTAGCAACCATAAACATTTTGTATCTGAAAAGGTACCTTTTGGCTCTGGAATTTGGGGCAACTAATAGGAGCATGCCACCTCTGGATTTATGCGGAATACTATGATCTTTGTTCTTATTAATGACTCTGGTATCCCAAGGGGGCTCAACATATACAGAACTGAGCCTATTGTAATTTGGTACTTATTGGAATTTGATGTCTATTCTGCATAGCCGTATGCCCTCTGAAGACAGAGCATCTTTGGATAAAGGCAAAATGCATATCAGTGAAAGGCAGTTAAAAGTGACAGGACCATTTGCTTTTTTTCCACCCCAGGGCTTCCTTGCCTCAGCTTCTACCCACTCTCGCCTGTATTTTCCCCCATATTATGCCAGTCCCAAAGACCCAAACTAAAATGTCCCTTCATTCTTTCGGATGTCATGGGGTCACATTGTCCTTTATTTCGTGCTAAGTTCTAGTTGTTTTCTTATGGGTTTTCTCATTCACAATTGC	A	T21612912G	DNAH11	NM_001277115.2(DNAH11):c.3853-2202_4096-506del	noncoding	Pathogenic
7	21615159	CAAGAATCT	G	C21615159G	DNAH11	NM_001277115.2(DNAH11):c.3898_3906delinsG:p.Gln1300fs	coding	Pathogenic
7	21635628	TGAG	T	G21635632A	DNAH11	NM_001277115.2(DNAH11):c.4501-239_4501-237del	noncoding	Benign
7	21637636	T	TA	G21637638A	DNAH11	NM_001277115.2(DNAH11):c.4752dup:p.Glu1585fs	coding	Pathogenic
7	21638691	GGT	G	G21638732A	DNAH11	NM_001277115.2(DNAH11):c.4818-247GT[20]	noncoding	Benign
7	21638691	GGTGT	G	G21638730A	DNAH11	NM_001277115.2(DNAH11):c.4818-247GT[19]	noncoding	Benign
7	21638691	GGTGTGT	G	G21638728A	DNAH11	NM_001277115.2(DNAH11):c.4818-247GT[18]	noncoding	Benign
7	21639341	T	TC	A21639347C	DNAH11	NM_001277115.2(DNAH11):c.4944+281dup	noncoding	Benign
7	21683510	A	AT	C21683512T	DNAH11	NM_001277115.2(DNAH11):c.5461-273dup	noncoding	Benign
7	21687446	AC	A	C21687448G	DNAH11	NM_001277115.2(DNAH11):c.5845del:p.Arg1949fs	coding	Pathogenic
7	21702505	C	CA	G21702517A	DNAH11	NM_001277115.2(DNAH11):c.6181-194dup	noncoding	Benign
7	21704420	GT	G	T21704429C	DNAH11	NM_001277115.2(DNAH11):c.6274-5del	noncoding	Benign
7	21704456	A	ATT	C21704460T	DNAH11	NM_001277115.2(DNAH11):c.6298_6299dup:p.Asn2101fs	coding	Pathogenic
7	21707791	CT	C	T21707794G	DNAH11	NM_001277115.2(DNAH11):c.6642del:p.Phe2214fs	coding	Pathogenic
7	21718188	G	GTTT	A21718189T	DNAH11	NM_001277115.2(DNAH11):c.7134+263_7134+264insTTT	noncoding	Benign
7	21718188	G	GTTTT	A21718189T	DNAH11	NM_001277115.2(DNAH11):c.7134+263_7134+264insTTTT	noncoding	Benign
7	21741990	CA	C	A21741993T	DNAH11	NM_001277115.2(DNAH11):c.7981del:p.Ile2661fs	coding	Pathogenic
7	21742087	CAA	C	A21742088T	DNAH11	NM_001277115.2(DNAH11):c.8076_8077del:p.Met2693fs	coding	Pathogenic
7	21749711	GC	G	C21749713A	DNAH11	NM_001277115.2(DNAH11):c.8709del:p.Lys2904fs	coding	Pathogenic
7	21749770	CCTCGTGCTGATTAATGA	C	C21749773T	DNAH11	NM_001277115.2(DNAH11):c.8769_8785del:p.Val2924fs	coding	Pathogenic
7	21765225	C	CTG	C21765231G	DNAH11	NM_001277115.2(DNAH11):c.8941-202TG[3]	noncoding	Benign
7	21765609	G	GTC	A21765612T	DNAH11	NM_001277115.2(DNAH11):c.9102+21_9102+22dup	noncoding	Benign/Likely_benign
7	21765610	TCACACACACACACACACA	T	A21765642T	DNAH11	NM_001277115.2(DNAH11):c.9102+22CA[15]	noncoding	Benign
7	21765610	TCACACACACACA	T	A21765648T	DNAH11	NM_001277115.2(DNAH11):c.9102+22CA[18]	noncoding	Benign
7	21765610	TCACA	T	A21765656T	DNAH11	NM_001277115.2(DNAH11):c.9102+22CA[22]	noncoding	Benign
7	21765610	T	TCACACA	T21765660A	DNAH11	NM_001277115.2(DNAH11):c.9102+22CA[27]	noncoding	Benign
7	21765610	T	TCACA	T21765660A	DNAH11	NM_001277115.2(DNAH11):c.9102+22CA[26]	noncoding	Benign
7	21765610	T	TCA	T21765660A	DNAH11	NM_001277115.2(DNAH11):c.9102+22CA[25]	noncoding	Benign
7	21773657	A	AT	C21773667T	DNAH11	NM_001277115.2(DNAH11):c.9103-100dup	noncoding	Benign
7	21773700	A	AT	A21773709T	DNAH11	NM_001277115.2(DNAH11):c.9103-58dup	noncoding	Benign
7	21773903	GT	G	T21773906A	DNAH11	NM_001277115.2(DNAH11):c.9243del:p.Phe3081fs	coding	Pathogenic
7	21784502	C	CTAGT	G21784504A	DNAH11	NM_001277115.2(DNAH11):c.9560_9561insAGTT:p.Ala3189fs	coding	Pathogenic
7	21786301	C	CGTGT	A21786302G	DNAH11	NM_001277115.2(DNAH11):c.9598-323_9598-322insGTGT	noncoding	Benign
7	21786301	C	CGTGTGT	A21786302G	DNAH11	NM_001277115.2(DNAH11):c.9598-323_9598-322insGTGTGT	noncoding	Benign
7	21786302	A	ATG	A21786330G	DNAH11	NM_001277115.2(DNAH11):c.9598-321TG[14]	noncoding	Benign
7	21786302	A	ATGTG	A21786330G	DNAH11	NM_001277115.2(DNAH11):c.9598-321TG[15]	noncoding	Benign
7	21786302	A	ATGTGTG	A21786330G	DNAH11	NM_001277115.2(DNAH11):c.9598-321TG[16]	noncoding	Benign
7	21818326	AT	A	T21818328A	DNAH11	NM_001277115.2(DNAH11):c.10680del:p.Gly3563fs	coding	Pathogenic
7	21842732	AT	A	T21842735G	DNAH11	NM_001277115.2(DNAH11):c.10883del:p.Leu3628fs	coding	Pathogenic
7	21852405	T	TAA	G21852424A	DNAH11	NM_001277115.2(DNAH11):c.10897-45_10897-44dup	noncoding	Benign
7	21852405	T	TA	G21852424A	DNAH11	NM_001277115.2(DNAH11):c.10897-44dup	noncoding	Benign
7	21862122	C	CT	G21862137T	DNAH11	NM_001277115.2(DNAH11):c.11373+113dup	noncoding	Benign
7	21866320	CA	C	A21866335G	DNAH11	NM_001277115.2(DNAH11):c.11497-135del	noncoding	Benign
7	21866320	C	CAA	G21866336A	DNAH11	NM_001277115.2(DNAH11):c.11497-136_11497-135dup	noncoding	Benign
7	21866320	C	CA	G21866336A	DNAH11	NM_001277115.2(DNAH11):c.11497-135dup	noncoding	Benign
7	21867839	T	TC	A21867840C	DNAH11	NM_001277115.2(DNAH11):c.11691-20_11691-19insC	noncoding	Benign
7	21868104	C	CT	A21868121T	DNAH11	NM_001277115.2(DNAH11):c.11839+113dup	noncoding	Benign
7	21868104	CT	C	T21868120A	DNAH11	NM_001277115.2(DNAH11):c.11839+113del	noncoding	Benign
7	21873091	C	CT	G21873105T	DNAH11	NM_001277115.2(DNAH11):c.11968-170dup	noncoding	Benign
7	21881124	T	TA	C21881134A	DNAH11	NM_001277115.2(DNAH11):c.12387+240dup	noncoding	Benign
7	21884048	G	GA	T21884057A	DNAH11	NM_001277115.2(DNAH11):c.12388-235dup	noncoding	Benign
7	21894882	AG	A	G21894887A	DNAH11	NC_000007.13:g.21934501del	noncoding	Pathogenic
7	21899388	CTT	C	T21899389A	DNAH11	NM_001277115.2(DNAH11):c.13103_13104del:p.Leu4368fs	coding	Pathogenic
7	21899968	A	ATATT	C21899974A	DNAH11	NM_001277115.2(DNAH11):c.13163-10_13163-7dup	noncoding	Benign
7	21900058	CAAAG	C	A21900059G	DNAH11	NM_001277115.2(DNAH11):c.13242_13245del:p.Glu4416fs	coding	Pathogenic
7	21900082	C	CAAGGGAA	G21900090A	DNAH11	NM_001277115.2(DNAH11):c.13266_13272dup:p.Gly4425fs	coding	Pathogenic
7	21900740	A	ATTCTC	A21900748C	DNAH11	NM_001277115.2(DNAH11):c.13304-264_13304-260dup	noncoding	Benign
7	21900939	AACTT	A	A21900944G	DNAH11	NM_001277115.2(DNAH11):c.13304-63_13304-60del	coding	Benign
7	21901066	T	TGCCCTATGCCGGTCATCTTTGCAAAAGCCACCCCCGTGGACAGACAAGAAAC	C21901119G	DNAH11	NM_001277115.2(DNAH11):c.13364_13415dup:p.Lys4473fs	coding	Pathogenic
7	21901152	C	CAA	C21901156A	DNAH11	NM_001277115.2(DNAH11):c.13451_13452dup:p.Leu4485fs	coding	Pathogenic
7	21901174	A	ATCTGGACCTTCAGGCTGAAGAGCGAAGAGAGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCAT	A21901205G	DNAH11	NM_001277115.2(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA:p.Lys4501delinsArgThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer	coding	Pathogenic
7	21901182	C	CTTCAGGCTGAAGA	G21901196T	DNAH11	NM_001277115.2(DNAH11):c.13480_13492dup:p.Ser4498fs	coding	Pathogenic
7	22960457	A	AAGATCAACAT	G22960458A	FAM126A	NM_032581.4(FAM126A):c.832-43_832-42insATGTTGATCT	noncoding	Benign
7	22961164	G	GCTCT	A22961170T	FAM126A	NM_032581.4(FAM126A):c.831+67AG[4]	noncoding	Benign
7	22964109	C	CA	T22964121A	FAM126A	NM_032581.4(FAM126A):c.743+295dup	noncoding	Benign
7	23124694	T	TGCTTGAATCAAAGTCCTTTGAA	T23124718C	KLHL7	NM_001031710.3(KLHL7):c.232_253dup:p.Val85delinsAlaTer	coding	Pathogenic
7	23140942	CA	C	A23140943G	KLHL7	NM_001031710.3(KLHL7):c.617del:p.Gln206fs	coding	Pathogenic
7	23143875	TTGAAATACGA	T	A23143880C	KLHL7	NM_001031710.3(KLHL7):c.648_657del:p.Lys216fs	coding	Pathogenic
7	23152217	AT	A	T23152222A	KLHL7	NM_001031710.3(KLHL7):c.936+13del	noncoding	Benign
7	23167849	GTATT	G	A23167855G	KLHL7	NM_001031710.3(KLHL7):c.1197_1200del:p.Phe400fs	coding	Pathogenic
7	24289484	C	CT	C24289495T	NPY	NM_000905.4(NPY):c.189-5dup	noncoding	Benign
7	24707875	CTA	C	A24707877G	GSDME	NM_001127453.2(GSDME):c.990+250_990+251del	noncoding	Benign
7	24710136	TC	T	C24710137A	GSDME	NM_001127453.2(GSDME):c.862+87del	noncoding	Benign
7	24710600	TG	T	G24710601T	GSDME	NM_001127453.2(GSDME):c.698-213del	noncoding	Benign
7	24717191	A	AGTCCCTCTGCTGAGGGATCCTCTGCTGGGG	A24717222G	GSDME	NM_001127453.2(GSDME):c.697+33_697+62dup	noncoding	Benign
7	24718798	C	CA	C24718801A	GSDME	NM_001127453.2(GSDME):c.576+247dup	noncoding	Benign
7	24718819	CTA	C	A24718825C	GSDME	NM_001127453.2(GSDME):c.576+222TA[2]	noncoding	Benign
7	24744362	TC	T	C24744368A	GSDME	NM_001127453.2(GSDME):c.404+199del	noncoding	Benign
7	24744923	C	CGT	G24744953T	GSDME	NM_001127453.2(GSDME):c.212-197AC[15]	noncoding	Benign
7	24744923	C	CGTGT	G24744953T	GSDME	NM_001127453.2(GSDME):c.212-197AC[16]	noncoding	Benign
7	24744923	CGTGT	C	T24744949G	GSDME	NM_001127453.2(GSDME):c.212-197AC[12]	noncoding	Benign
7	24744923	CGTGTGTGTGTGTGT	C	T24744939G	GSDME	NM_001127453.2(GSDME):c.212-197AC[7]	noncoding	Benign
7	24744984	C	CGT	G24745036T	GSDME	NM_001127453.2(GSDME):c.212-280AC[26]	noncoding	Benign
7	24744984	CGT	C	T24745034G	GSDME	NM_001127453.2(GSDME):c.212-280AC[24]	noncoding	Benign
7	24744984	CGTGT	C	T24745032G	GSDME	NM_001127453.2(GSDME):c.212-280AC[23]	noncoding	Benign
7	24744984	CGTGTGT	C	T24745030G	GSDME	NM_001127453.2(GSDME):c.212-280AC[22]	noncoding	Benign
7	24744984	CGTGTGTGT	C	T24745028G	GSDME	NM_001127453.2(GSDME):c.212-280AC[21]	noncoding	Benign
7	24744984	CGTGTGTGTGT	C	T24745026G	GSDME	NM_001127453.2(GSDME):c.212-280AC[20]	noncoding	Benign
7	24749497	C	CAA	G24749515A	GSDME	NM_001127453.2(GSDME):c.211+50_211+51dup	noncoding	Benign
7	24749497	C	CA	G24749515A	GSDME	NM_001127453.2(GSDME):c.211+50dup	noncoding	Benign
7	26195921	CAA	C	A26195927G	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.659-14_659-13del	noncoding	Benign
7	26195921	C	CA	G26195929A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.659-13dup	noncoding	Benign
7	26197868	TG	T	G26197874A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.7-137del	noncoding	Benign
7	26197874	GA	G	A26197884C	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.7-143del	noncoding	Benign
7	26365062	TC	T	C26365064A	SNX10	NM_013322.3(SNX10):c.230del:p.Pro77fs	coding	Pathogenic
7	26371803	C	CT	A26371814T	SNX10	NM_013322.3(SNX10):c.312-8dup	noncoding	Benign
7	26372470	TC	T	C26372475T	SNX10	NM_013322.3(SNX10):c.525-16del	noncoding	Benign
7	27095689	GGGTGGCGAT	G	C27095695T	HOXA1	NM_005522.5(HOXA1):c.215_223del:p.His72_His74del	coding	Benign/Likely_benign
7	27102258	GCGGCTGCC	G	G27102261C	HOXA2	NM_006735.4(HOXA2):c.235_242del:p.Gly79fs	coding	Pathogenic
7	27102973	A	AGT	A27102993T	HOXA2	Single_allele	noncoding	Benign
7	27199679	CGCG	C	G27199697T	HOXA13	NM_000522.5(HOXA13):c.381CGC[5]:p.Ala133del	coding	Benign
7	27199685	G	GGCGGCGGCGGCGGCTGCAGCGGCAGCC	A27199718G	HOXA13	NM_000522.5(HOXA13):c.366_392dup:p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
7	27199688	G	GGCGGCGGCGGCTGCAGCGGCAGCC	A27199718G	HOXA13	NM_000522.5(HOXA13):c.366_389dup:p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
7	27199700	T	TGCAGCGGCAGCCGCGGCA	G27199727A	HOXA13	NM_000522.5(HOXA13):c.360_377dup:p.Ala133_Ser134insAlaAlaAlaAlaAlaAla	coding	Pathogenic/Likely_pathogenic
7	27200396	A	AG	C27200399G	HOXA13	Single_allele	noncoding	Benign
7	30022807	A	AT	G30022809T	FKBP14	NM_017946.4(FKBP14):c.206dup:p.His69fs	coding	Pathogenic
7	30026412	GGA	G	G30026415A	FKBP14	NM_017946.4(FKBP14):c.95_96del:p.Leu32fs	coding	Pathogenic
7	30026970	CTG	C	T30026973A	FKBP14	Single_allele	noncoding	Benign
7	30600882	CT	C	T30600888A	GARS1	NM_002047.4(GARS1):c.428-171del	noncoding	Benign
7	30602961	ATTATC	A	C30602966A	GARS1	NM_002047.4(GARS1):c.570-68_570-64del	noncoding	Benign
7	30622650	CT	C	T30622661C	GARS1	NM_002047.4(GARS1):c.1613+199del	noncoding	Benign
7	30922542	CCTCT	C	C30922543G	AQP1	NM_198098.4(AQP1):c.550-21_550-18del	noncoding	Benign
7	30923681	A	AGGGAG	T30923695A	AQP1	NM_198098.4(AQP1):c.*56AGGGG[3]	noncoding	Benign
7	30964084	T	TG	C30964091G	GHRHR	NM_000823.4(GHRHR):c.22dup:p.Ala8fs	coding	Pathogenic
7	31816353	CAGTT	C	T31816356A	PDE1C	NM_001191057.4(PDE1C):c.1583-203_1583-200del	noncoding	Benign
7	31836945	CT	C	T31836952C	PDE1C	NM_001191057.4(PDE1C):c.1203+234del	noncoding	Benign
7	32209543	G	GAA	G32209554A	PDE1C	NM_001191058.4(PDE1C):c.86-6_86-5dup	noncoding	Benign
7	33014502	CT	C	T33014516A	NT5C3A	NM_001002010.5(NT5C3A):c.*227del	noncoding	Benign
7	33014505	T	TAAGA	T33014506A	NT5C3A	NM_001002010.5(NT5C3A):c.*224_*225insTCTT	noncoding	Benign
7	33017182	CA	C	A33017200G	NT5C3A	NM_001002010.5(NT5C3A):c.693+256del	noncoding	Benign
7	33020991	TCA	T	C33020992T	NT5C3A	NM_001002010.5(NT5C3A):c.440+279_440+280del	noncoding	Benign
7	33035974	TG	T	G33035976T	NT5C3A	NM_001002010.5(NT5C3A):c.139-9060del	coding	Benign
7	33146698	CAAA	C	A33146716G	BBS9	NM_198428.3(BBS9):c.112+352_112+354del	noncoding	Benign
7	33152801	AG	A	G33152802T	BBS9	NM_198428.3(BBS9):c.214del:p.Val72fs	coding	Pathogenic/Likely_pathogenic
7	33152830	TG	T	G33152832A	BBS9	NM_198428.3(BBS9):c.244del:p.Glu82fs	coding	Pathogenic
7	33155705	A	AAGAAATATTTTTTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCC	A33155718T	BBS9	NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTNNNNNNNNNNAGACAACTGGTTAGCCAGGATGGTCTCGTTCGCGGGTACTCCAGATCCACCCGCCTCTGACTCCCAACGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT	noncoding	Benign
7	33177459	CT	C	T33177471C	BBS9	NM_198428.3(BBS9):c.329-7del	noncoding	Benign
7	33264382	C	CT	A33264390T	BBS9	NM_198428.3(BBS9):c.702+15dup	noncoding	Benign
7	33272872	AG	A	G33272873A	BBS9	NM_198428.3(BBS9):c.703-139del	noncoding	Benign
7	33273059	T	TG	T33273061G	BBS9	NM_198428.3(BBS9):c.751dup:p.Val251fs	coding	Pathogenic
7	33273062	CT	C	T33273063C	BBS9	NM_198428.3(BBS9):c.754del:p.Ser252fs	coding	Pathogenic
7	33273162	TG	T	G33273164A	BBS9	NM_198428.3(BBS9):c.855del:p.Asp284_Trp285insTer	coding	Pathogenic/Likely_pathogenic
7	33336598	AT	A	T33336599C	BBS9	NM_198428.3(BBS9):c.1175del:p.Ile392fs	coding	Pathogenic
7	33351251	GT	G	T33351254A	BBS9	NM_198428.3(BBS9):c.1468del:p.Tyr490fs	coding	Pathogenic
7	33383835	T	TGAGAAATTATTCATTG	G33383839A	BBS9	NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG:p.Leu655fs	coding	Pathogenic
7	33388030	T	TGA	C33388038A	BBS9	NM_198428.3(BBS9):c.2007_2008dup:p.Ala670fs	coding	Pathogenic
7	33388125	T	TA	G33388127A	BBS9	NM_198428.3(BBS9):c.2097dup:p.Asp700fs	coding	Pathogenic
7	33505277	A	AT	A33505287T	BBS9	NM_198428.3(BBS9):c.2116-177dup	noncoding	Benign
7	33604877	CA	C	A33604879T	BBS9	NM_198428.3(BBS9):c.2536del:p.Ile846fs	coding	Pathogenic
7	33605183	C	CT	C33605191T	BBS9	NM_198428.3(BBS9):c.2633-5dup	noncoding	Benign
7	33905639	CTCTGGCTGA	AGACCAGAGCGGCG	C33905639A	BMPER	NM_001365308.1(BMPER):c.26_35delinsAGACCAGAGCGGCG:p.Ala9fs	coding	Pathogenic
7	33970316	TTC	T	C33970318G	BMPER	NM_001365308.1(BMPER):c.403-11_403-10del	noncoding	Benign
7	33974703	CTG	C	G33974709T	BMPER	NM_001365308.1(BMPER):c.501_502del:p.Val167_Phe168insTer	coding	Pathogenic
7	34057831	A	AACAC	T34057859C	BMPER	NM_001365308.1(BMPER):c.928-227AC[15]	noncoding	Benign
7	34057831	A	AAC	T34057859C	BMPER	NM_001365308.1(BMPER):c.928-227AC[14]	noncoding	Benign
7	34057831	AAC	A	C34057857T	BMPER	NM_001365308.1(BMPER):c.928-227AC[12]	noncoding	Benign
7	34061950	G	GT	A34061966T	BMPER	NM_001365308.1(BMPER):c.1033-37dup	noncoding	Benign
7	34061950	G	GTTTT	A34061966T	BMPER	NM_001365308.1(BMPER):c.1033-40_1033-37dup	noncoding	Benign
7	35240733	T	TA	G35240735A	TBX20	NM_001077653.2(TBX20):c.813+145dup	noncoding	Benign
7	35241049	AG	A	G35241050A	TBX20	NM_001077653.2(TBX20):c.655-13del	noncoding	Benign/Likely_benign
7	35248831	G	GA	C35248835A	TBX20	NM_001077653.2(TBX20):c.390dup:p.Pro131fs	coding	Pathogenic
7	35248846	CAG	C	G35248862A	TBX20	NM_001077653.2(TBX20):c.381-21CT[7]	noncoding	Benign
7	35248846	C	CAG	A35248864G	TBX20	NM_001077653.2(TBX20):c.381-21CT[9]	noncoding	Benign
7	35250277	C	CA	T35250281A	TBX20	NM_001077653.2(TBX20):c.128-77dup	noncoding	Benign
7	35250329	C	CA	G35250331A	TBX20	NM_001077653.2(TBX20):c.128-127dup	noncoding	Benign
7	36406246	AG	CA	A36406246C	ANLN	NM_018685.5(ANLN):c.553_554delinsCA:p.Arg185Gln	coding	Benign
7	36417004	AC	A	C36417005A	ANLN	NM_018685.5(ANLN):c.1523-75del	noncoding	Benign
7	36420810	CA	C	A36420813G	ANLN	NM_018685.5(ANLN):c.2163+69del	noncoding	Benign
7	36422283	TTCTC	T	T36422304C	ANLN	NM_018685.5(ANLN):c.2299+292TC[10]	noncoding	Benign
7	36422283	TTC	T	T36422306C	ANLN	NM_018685.5(ANLN):c.2299+292TC[11]	noncoding	Benign
7	36422283	T	TTC	C36422308T	ANLN	NM_018685.5(ANLN):c.2299+292TC[13]	noncoding	Benign
7	36425997	C	CT	A36426013T	ANLN	NM_018685.5(ANLN):c.2749-3dup	noncoding	Benign
7	36425997	CT	C	T36426012A	ANLN	NM_018685.5(ANLN):c.2749-3del	noncoding	Benign
7	36426320	ATTTGT	A	T36426326G	ANLN	NM_018685.5(ANLN):c.2770+290_2770+294del	noncoding	Benign
7	36427189	G	GT	G36427205T	ANLN	NM_018685.5(ANLN):c.2883+176dup	noncoding	Benign
7	36443487	TAA	T	A36443490G	ANLN	NM_018685.5(ANLN):c.2971-265_2971-264del	noncoding	Benign
7	37850236	TTTTC	T	C37850244T	NME8	NM_016616.5(NME8):c.-7-16_-7-13del	noncoding	Benign
7	37876681	AT	A	T37876682A	NME8	NM_016616.5(NME8):c.819-150del	noncoding	Benign
7	37883986	C	CA	C37883987A	NME8	NM_016616.5(NME8):c.995-317_995-316insA	noncoding	Benign
7	37883987	C	CA	C37883988A	NME8	NM_016616.5(NME8):c.995-316_995-315insA	noncoding	Benign
7	37912292	CA	C	A37912293C	SFRP4	NM_003014.4(SFRP4):c.617del:p.Val206fs	coding	Pathogenic
7	38765405	T	TG	T38765406G	VPS41	NM_014396.4(VPS41):c.1329+174_1329+175insC	noncoding	Benign
7	38765479	TC	T	C38765480A	VPS41	NM_014396.4(VPS41):c.1329+100del	noncoding	Benign
7	38771280	T	TA	G38771295A	VPS41	NM_014396.4(VPS41):c.1129-40dup	noncoding	Benign
7	38772464	CTTCT	C	T38772465C	VPS41	NM_014396.4(VPS41):c.1128+54_1128+57del	noncoding	Benign
7	38774064	GA	G	A38774065G	VPS41	NM_014396.4(VPS41):c.1012+50del	noncoding	Benign
7	39706106	AT	A	T39706114C	RALA	NM_005402.4(RALA):c.499-9del	noncoding	Benign
7	40093923	AT	A	T40093936A	CDK13	NM_003718.5(CDK13):c.3689-194del	noncoding	Benign
7	40134338	CG	C	G40134340C	MPLKIP	NM_138701.4(MPLKIP):c.229del:p.Arg77fs	coding	Pathogenic
7	40181746	C	CA	G40181761A	SUGCT	NM_001193313.2(SUGCT):c.153-195dup	noncoding	Benign
7	40195143	CT	C	T40195156G	SUGCT	NM_001193313.2(SUGCT):c.484+96del	noncoding	Benign
7	40317142	TTC	T	T40317143C	SUGCT	NM_001193313.2(SUGCT):c.816+288_816+289del	noncoding	Benign
7	40449184	CAT	C	A40449185T	SUGCT	NM_001193313.2(SUGCT):c.817-102_817-101del	noncoding	Benign
7	41964527	AGTGG	A	G41964528T	GLI3	NM_000168.6(GLI3):c.4542_4545del:p.His1515fs	coding	Pathogenic
7	41964659	TC	T	C41964663T	GLI3	NM_000168.6(GLI3):c.4413del:p.Thr1472fs	coding	Pathogenic
7	41964789	C	CT	G41964791T	GLI3	NM_000168.6(GLI3):c.4283dup:p.Pro1429fs	coding	Pathogenic
7	41964900	GC	G	C41964905A	GLI3	NM_000168.6(GLI3):c.4172del:p.Gly1391fs	coding	Pathogenic
7	41965116	T	TC	A41965120C	GLI3	NM_000168.6(GLI3):c.3956dup:p.Gln1320fs	coding	Pathogenic
7	41965403	CGTA	TTGAT	C41965403T	GLI3	NM_000168.6(GLI3):c.3667_3670delinsATCAA:p.Tyr1223fs	coding	Pathogenic
7	41965619	CGGGGCAGGGCTGCTCGA	C	G41965623C	GLI3	NM_000168.6(GLI3):c.3437_3453del:p.Leu1146fs	coding	Pathogenic
7	41965706	GCA	G	A41965708T	GLI3	NM_000168.6(GLI3):c.3365_3366del:p.Val1122fs	coding	Pathogenic
7	41965988	TGC	T	G41965989T	GLI3	NM_000168.6(GLI3):c.3083_3084del:p.Ser1028fs	coding	Benign
7	41966440	TC	T	C41966441G	GLI3	NM_000168.6(GLI3):c.2632del:p.Glu878fs	coding	Pathogenic
7	41966474	TC	T	C41966477T	GLI3	NM_000168.6(GLI3):c.2598del:p.Ile867fs	coding	Pathogenic
7	41967388	A	AT	C41967396T	GLI3	NM_000168.6(GLI3):c.2431+201dup	noncoding	Benign
7	41972349	TG	T	G41972350C	GLI3	NM_000168.6(GLI3):c.2090del:p.Ala697fs	coding	Pathogenic
7	41972380	TC	T	C41972383G	GLI3	NM_000168.6(GLI3):c.2059del:p.Glu687fs	coding	Pathogenic
7	41972558	CAT	C	A41972559G	GLI3	NM_000168.6(GLI3):c.1880_1881del:p.His627fs	coding	Pathogenic
7	41977576	G	GT	G41977581T	GLI3	NM_000168.6(GLI3):c.1793dup:p.Asn598fs	coding	Pathogenic
7	41977941	G	GT	A41977953T	GLI3	NM_000168.6(GLI3):c.1648-230dup	noncoding	Benign
7	41977941	GT	G	T41977952A	GLI3	NM_000168.6(GLI3):c.1648-220del	noncoding	Benign
7	42026307	A	AG	C42026311G	GLI3	NM_000168.6(GLI3):c.1133dup:p.Pro379fs	coding	Pathogenic
7	42026392	TAGGTGAAGCTCAAGGC	T	T42026396G	GLI3	NM_000168.6(GLI3):c.1033_1048del:p.Ala345fs	coding	Pathogenic
7	42040252	C	CA	G42040259A	GLI3	NM_000168.6(GLI3):c.827-19dup	noncoding	Benign/Likely_benign
7	42048334	CA	C	A42048338C	GLI3	NM_000168.6(GLI3):c.679+156del	noncoding	Benign
7	42048494	CTGTAGGGCTCAGCCCACGGGTTGCTGAGATCATGGAGAGCGATGGGCTGCTGTGCAAGGAGCGGATATAGTCCA	C	C42048502A	GLI3	NM_000168.6(GLI3):c.602_675del:p.Met201fs	coding	Pathogenic
7	42076257	TCACATTTGCCATTTTGTTTGGCTGACATTCCCATCAATCAAGTGACTTCTGGTGTACTTACATAGGGGCTATGAAAATTTACCATAAAAATTTCATTACAATTCCTTGTGATCCCCAGAACAGGACTTTCATGTTACAGAAATTTGAACATAACAAACTTCAAACCTAATGTCGACCAAATACATATTCTGAGTGGTAACTTTCCATTAGGCTTTTACTTTTTAATTTAGTATTTACAGCCCACAGAACACACGTCAGCAAAATATATAGGAAATACTTGTCGGCGACCTAGTGTGACAGGCATTCCTCAGGAAGCAGCAGGGATTTGCTTCAGTGAACCCACGAACAGATAGGCTTGCTATATTTCAAAAGTAAATCTTACACTTCTATCACATCTTCAAAGCCCAGTGGACATGCCATTAACAAAAAGTCCTGAGATGGTAAAAGCCAGCATCTCGTTCCATTTCATTAATGAAGAAAGTGTTAATACTTACATATGCAATGGAGGAATCGGAGATGGATCGTAATGGTAACGGCCCTCATGATGTCTGGCATCAATTGGTACAGGAGGATGGAAGGCAGGGAAAAGATGAGGAGGGTCTGAAAAGAAGAGAGAGCCCAATCTATATCAAATGAACACTTTCAAACAGCATTCCGATTCACAAAGCAACATTGCTATACTATTGTATCTTCACTACCTACACTTAATCTAAGAATTTGTAAAAGAACTCTTTAAGGTTAGTTATGAAGCTCTGTGAGGTACTGCAGCAGTGTGACTAAGTAAGTAGTGCCTGCACCTACCTGAGAAGGCAGAGCCTGGGACTGACTGCAACTCAAACCCAGACACGAAAGCAAGAAAGAGAGGAGCAACACAGGCTCCCTATCTTGAAAGACAGGCTGACCAGAGGAGAAGGGCTGAAGGGAGCCACAAAGCCAAGGGGAAGAGATTAAAACACACTTATTTGAAAAATAAAACTACATTGTCAAGTTAAGTTTTAGACAAAGACACTGTAATACAAATACCAGTTTCATTTCTCCCATGCTCACCATACTTTTAAG	T	C42076258A	GLI3	NM_000168.6(GLI3):c.368-459_473+494del	noncoding	Pathogenic
7	42148130	A	AGC	A42148137G	GLI3	NM_000168.6(GLI3):c.367+90GC[4]	noncoding	Benign
7	42148135	GCACACACA	G	C42148170G	GLI3	NM_000168.6(GLI3):c.367+49TG[17]	noncoding	Benign
7	42148135	GCACACA	G	C42148172G	GLI3	NM_000168.6(GLI3):c.367+49TG[18]	noncoding	Benign
7	42148135	GCACA	G	C42148174G	GLI3	NM_000168.6(GLI3):c.367+49TG[19]	noncoding	Benign
7	42148135	G	GCA	G42148178C	GLI3	NM_000168.6(GLI3):c.367+49TG[22]	noncoding	Benign
7	42223336	GA	G	A42223350C	GLI3	NM_000168.6(GLI3):c.-42-42del	noncoding	Benign
7	42223336	G	GA	C42223351A	GLI3	NM_000168.6(GLI3):c.-42-55dup	noncoding	Benign
7	42223443	CA	C	A42223453G	GLI3	NM_000168.6(GLI3):c.-42-149del	noncoding	Benign
7	44104212	AGCCCCCCGCCCCCC	A	G44104227C	AEBP1	Single_allele	noncoding	Benign
7	44107968	C	CG	C44107971G	AEBP1	NM_001129.5(AEBP1):c.863-37dup	noncoding	Benign
7	44108973	CTGAG	C	A44108980G	AEBP1	NM_001129.5(AEBP1):c.1018+4_1018+7del	coding	Benign
7	44109347	TG	T	G44109353C	AEBP1	NM_001129.5(AEBP1):c.1150+12del	noncoding	Benign
7	44112520	A	AG	C44112522G	AEBP1	NM_001129.5(AEBP1):c.2218-37dup	noncoding	Benign
7	44112925	A	AG	C44112930G	AEBP1	NM_001129.5(AEBP1):c.2569+20dup	noncoding	Benign
7	44145166	GGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGAC	G	A44145170C	GCK	NM_000162.5(GCK):c.1162_1364del203:p.Val389fs	coding	Pathogenic
7	44145237	TGG	CGGC	T44145237C	GCK	NM_000162.5(GCK):c.1295_1297delinsGCCG:p.Pro432fs	coding	Pathogenic
7	44145254	ACG	A	G44145256T	GCK	NM_000162.5(GCK):c.1278_1279del:p.Val427fs	coding	Pathogenic
7	44145504	GC	G	C44145505A	GCK	NM_000162.5(GCK):c.1245del:p.His416fs	coding	Pathogenic
7	44145593	AG	A	G44145594C	GCK	NM_000162.5(GCK):c.1156del:p.Leu386fs	coding	Pathogenic
7	44145607	CAT	C	A44145608G	GCK	NM_000162.5(GCK):c.1141_1142del:p.Met381fs	coding	Pathogenic
7	44145672	AG	A	G44145675T	GCK	NM_000162.5(GCK):c.1077del:p.Ser360fs	coding	Pathogenic
7	44146187	GC	G	C44146191T	GCK	NM_000162.5(GCK):c.1019+275del	noncoding	Benign
7	44146518	C	CGG	A44146521G	GCK	NM_000162.5(GCK):c.962_963dup:p.Glu322fs	coding	Pathogenic
7	44149772	CG	C	G44149773A	GCK	NM_000162.5(GCK):c.666del:p.Gly223fs	coding	Pathogenic/Likely_pathogenic
7	44149782	CT	C	T44149783G	GCK	NM_000162.5(GCK):c.656del:p.Gln219fs	coding	Pathogenic
7	44149797	G	GT	A44149799T	GCK	NM_000162.5(GCK):c.641dup:p.Tyr214Ter	coding	Pathogenic
7	44149832	C	CACGGTGT	C44149833A	GCK	NM_000162.5(GCK):c.606_607insACACCGT:p.Val203fs	coding	Pathogenic
7	44149859	CCTGCCAAGAAGCA	C	T44149861A	GCK	NM_000162.5(GCK):c.580-13_580-1del	coding	Pathogenic
7	44150993	G	GT	G44150995T	GCK	NM_000162.5(GCK):c.445dup:p.Thr149fs	coding	Pathogenic
7	44151045	CG	C	G44151047A	GCK	NM_000162.5(GCK):c.393del:p.Asp132fs	coding	Pathogenic/Likely_pathogenic
7	44152274	C	CT	C44152276T	GCK	NM_000162.5(GCK):c.359dup:p.Met121fs	coding	Pathogenic/Likely_pathogenic
7	44152275	TCAGCAGTG	T	A44152277C	GCK	NM_000162.5(GCK):c.351_358del:p.Thr118fs	coding	Pathogenic
7	44152313	C	CA	T44152315A	GCK	NM_000162.5(GCK):c.320dup:p.Met107fs	coding	Pathogenic
7	44152326	GT	G	T44152327C	GCK	NM_000162.5(GCK):c.307del:p.Thr103fs	coding	Pathogenic
7	44153360	TG	T	G44153363T	GCK	NM_000162.5(GCK):c.148del:p.His50fs	coding	Pathogenic
7	44153368	C	CA	G44153370A	GCK	NM_000162.5(GCK):c.140dup:p.Glu48fs	coding	Pathogenic
7	44153422	GT	G	T44153423C	GCK	NM_000162.5(GCK):c.86del:p.Asp29fs	coding	Pathogenic
7	44159368	T	TG	T44159372G	GCK	NM_000162.5(GCK):c.46-5908dup	noncoding	Benign
7	44188935	TG	T	G44188937C	GCK	NM_000162.5(GCK):c.18del:p.Arg7fs	coding	Pathogenic
7	44219955	T	TG	C44219958G	CAMK2B	NM_001220.5(CAMK2B):c.*2+103dup	noncoding	Benign
7	44219962	G	GC	A44219964C	CAMK2B	NM_001220.5(CAMK2B):c.*2+97dup	noncoding	Benign
7	44232715	G	GC	A44232717C	CAMK2B	NM_001220.5(CAMK2B):c.1176+106dup	noncoding	Benign
7	45000161	G	GGGCCTGCTCT	C45000162G	CCM2	Single_allele	noncoding	Benign
7	45000457	G	GC	G45000458C	CCM2	NM_031443.4(CCM2):c.30+94_30+95insC	noncoding	Benign
7	45000464	G	GT	G45000465T	CCM2	NM_031443.4(CCM2):c.30+101_30+102insT	noncoding	Benign
7	45038304	AGAGAT	A	G45038305A	CCM2	NM_031443.4(CCM2):c.83_87del:p.Arg28fs	coding	Pathogenic
7	45038312	GA	G	A45038315G	CCM2	NM_031443.4(CCM2):c.93del:p.Ala32fs	coding	Pathogenic
7	45038368	TG	T	G45038369C	CCM2	NM_031443.4(CCM2):c.147del:p.Leu49fs	coding	Pathogenic
7	45063940	T	TA	C45063942A	CCM2	NM_031443.4(CCM2):c.228dup:p.Pro77fs	coding	Pathogenic
7	45063948	TAC	T	A45063949C	CCM2	NM_031443.4(CCM2):c.236_237del:p.Tyr79fs	coding	Pathogenic
7	45064477	T	TC	G45064480C	CCM2	NM_031443.4(CCM2):c.305dup:p.His104fs	coding	Pathogenic
7	45068497	GCCTCA	G	C45068498G	CCM2	NM_031443.4(CCM2):c.528_532del:p.Leu177fs	coding	Pathogenic
7	45068538	G	GT	G45068540T	CCM2	NM_031443.4(CCM2):c.569dup:p.Glu191fs	coding	Pathogenic
7	45068555	GGTCA	G	G45068556T	CCM2	NM_031443.4(CCM2):c.586_589del:p.Val196fs	coding	Pathogenic
7	45073447	CA	C	A45073448T	CCM2	NM_031443.4(CCM2):c.804-12del	noncoding	Benign/Likely_benign
7	45075791	A	ATCCC	G45075797C	CCM2	NM_031443.4(CCM2):c.1071_1074dup:p.Glu359delinsProTer	coding	Pathogenic
7	45610768	T	TGGTG	A45610769G	ADCY1	NM_021116.4(ADCY1):c.908+271_908+272insGGTG	noncoding	Benign
7	45610778	G	GA	T45610779A	ADCY1	NM_021116.4(ADCY1):c.908+281_908+282insA	noncoding	Benign
7	45610817	T	TG	A45610818G	ADCY1	NM_021116.4(ADCY1):c.908+320_908+321insG	noncoding	Benign
7	45610819	T	TGGC	A45610822C	ADCY1	NM_021116.4(ADCY1):c.908+324_908+325insCGG	noncoding	Benign
7	45659771	CTT	C	T45659772G	ADCY1	NM_021116.4(ADCY1):c.1308-270_1308-269del	noncoding	Benign
7	47803151	C	CAA	G47803152A	PKD1L1	NM_138295.5(PKD1L1):c.7962+58_7962+59insTT	noncoding	Benign
7	47812323	C	CA	T47812325A	PKD1L1	NM_138295.5(PKD1L1):c.7347-273dup	noncoding	Benign
7	47821198	GT	G	T47821203A	PKD1L1	NM_138295.5(PKD1L1):c.6855-13del	noncoding	Benign
7	47834148	CG	C	G47834151A	PKD1L1	NM_138295.5(PKD1L1):c.6174+190del	noncoding	Benign
7	47855354	C	CT	A47855356T	PKD1L1	NM_138295.5(PKD1L1):c.4591-90dup	noncoding	Benign
7	47858624	T	TG	A47858628G	PKD1L1	NM_138295.5(PKD1L1):c.4362+46dup	noncoding	Benign
7	47880538	TCCCAAAGTGCTGGGATTACAAGCGTGA	T	C47880539G	PKD1L1	NM_138295.5(PKD1L1):c.3520+163_3520+189del	noncoding	Benign
7	47882187	T	TCG	G47882188C	PKD1L1	NM_138295.5(PKD1L1):c.3266-103_3266-102insCG	noncoding	Benign
7	47882188	GCT	G	C47882189G	PKD1L1	NM_138295.5(PKD1L1):c.3266-105_3266-104del	noncoding	Benign
7	47882282	TTCCCTCCC	T	C47882300T	PKD1L1	NM_138295.5(PKD1L1):c.3266-221GGGA[4]	noncoding	Benign
7	47882282	T	TTCCC	T47882308C	PKD1L1	NM_138295.5(PKD1L1):c.3266-221GGGA[7]	noncoding	Benign
7	47893758	TA	T	A47893760C	PKD1L1	NM_138295.5(PKD1L1):c.2453+119del	noncoding	Benign
7	47897853	AT	A	T47897866A	PKD1L1	NM_138295.5(PKD1L1):c.2271+134del	noncoding	Benign
7	47902049	GAAAAGAAAAA	G	A47902053G	PKD1L1	NM_138295.5(PKD1L1):c.2064+320_2064+329del	noncoding	Benign
7	47932043	G	GT	G47932047T	PKD1L1	NM_138295.5(PKD1L1):c.411dup:p.Pro138fs	coding	Pathogenic
7	50387241	A	AT	A50387252T	IKZF1	NM_006060.6(IKZF1):c.590-94dup	noncoding	Benign
7	50463376	A	AT	G50463384T	DDC	NM_001082971.2(DDC):c.1297dup:p.Ile433fs	coding	Pathogenic
7	50467222	GA	G	A50467225G	DDC	NM_001082971.2(DDC):c.1233del:p.Arg412fs	coding	Pathogenic
7	50469979	C	CA	G50469993A	DDC	NM_001082971.2(DDC):c.1140+81dup	noncoding	Benign
7	50470157	TG	T	G50470159T	DDC	NM_001082971.2(DDC):c.1055del:p.Pro352fs	coding	Pathogenic/Likely_pathogenic
7	50476571	AG	A	G50476572C	DDC	NM_001082971.2(DDC):c.1041+52del	noncoding	Benign
7	50479963	AGCCCT	A	C50479970A	DDC	NM_001082971.2(DDC):c.945-105_945-101del	noncoding	Benign
7	50480028	G	GT	C50480030T	DDC	NM_001082971.2(DDC):c.945-166dup	noncoding	Benign
7	50492693	A	ACTC	T50492694C	DDC	NM_001082971.2(DDC):c.944+2656_944+2657insGAG	coding	Benign
7	50529209	T	TGATCG	G50529218C	DDC	NM_001082971.2(DDC):c.564_568dup:p.Gln190fs	coding	Pathogenic
7	50529297	TC	T	C50529299G	DDC	NM_001082971.2(DDC):c.480del:p.Thr161fs	coding	Pathogenic
7	50537978	GC	G	C50537980T	DDC	NM_001242888.2(DDC):c.201+5906del	coding	Pathogenic
7	50544037	TG	CT	T50544037C	DDC	NM_001082971.2(DDC):c.48_49delinsAG:p.Tyr16_Met17delinsTer	coding	Pathogenic
7	55142309	CT	C	T55142310C	EGFR	NM_005228.5(EGFR):c.113del:p.Leu38fs	coding	Pathogenic
7	55151291	CAGGCCAAA	C	G55151294T	EGFR	NM_001346941.2(EGFR):c.89-4536_89-4529del	noncoding	Pathogenic
7	55157418	CA	C	A55157419G	EGFR	NM_005228.5(EGFR):c.1208-244del	noncoding	Benign
7	55160255	CA	C	A55160258T	EGFR	NM_005228.5(EGFR):c.1418del:p.Asn473fs	coding	Pathogenic
7	55161531	TC	T	C55161536G	EGFR	NM_005228.5(EGFR):c.1536del:p.Glu513fs	coding	Pathogenic
7	55165417	CC	AA	C55165417A	EGFR	NM_005228.5(EGFR):c.1860_1861delinsAA:p.Cys620_His621delinsTer	coding	Pathogenic
7	55173911	T	TC	A55173919C	EGFR	NM_005228.5(EGFR):c.2062-3dup	noncoding	Benign
7	55174772	GGAATTAAGAGAAGCA	G	G55174773A	EGFR	NM_005228.5(EGFR):c.2236_2250del:p.Glu746_Ala750del	coding	Pathogenic
7	55181296	GC	G	C55181298T	EGFR	NM_005228.5(EGFR):c.2289del:p.Tyr764fs	coding	Pathogenic
7	55191824	GC	G	C55191826A	EGFR	NM_005228.5(EGFR):c.2577del:p.Lys860fs	coding	Pathogenic
7	55200385	GAGACCCCC	G	A55200388C	EGFR	NM_005228.5(EGFR):c.2921_2928del:p.Asp974fs	coding	Pathogenic
7	55201369	G	GTC	A55201386T	EGFR	NM_005228.5(EGFR):c.3114+15TC[9]	noncoding	Benign
7	55201369	GTC	G	T55201384A	EGFR	NM_005228.5(EGFR):c.3114+15TC[7]	noncoding	Benign
7	55201982	C	CAG	C55201983A	EGFR	NM_005228.5(EGFR):c.3162+200_3162+201insAG	noncoding	Benign
7	55205898	G	GA	G55205912A	EGFR	NM_005228.5(EGFR):c.*294dup	noncoding	Benign
7	56101805	T	TA	G56101807A	CHCHD2	NM_016139.4(CHCHD2):c.*45dup	noncoding	Benign
7	56106660	CG	C	G56106662A	CHCHD2	Single_allele	noncoding	Benign
7	56106696	C	CCG	G56106699C	CHCHD2	Single_allele	noncoding	Benign
7	56106858	TCA	T	C56106859G	CHCHD2	Single_allele	noncoding	Benign
7	65970268	AC	A	C65970273A	GUSB	NM_000181.4(GUSB):c.1476+13del	noncoding	Benign
7	65979930	C	CG	A65979935G	GUSB	NM_000181.4(GUSB):c.397-20dup	noncoding	Benign
7	66082945	G	GC	T66082950C	ASL	NM_000048.4(ASL):c.348+13dup	noncoding	Benign
7	66087243	C	CGT	C66087284G	ASL	NM_000048.4(ASL):c.603-90GT[21]	noncoding	Benign
7	66087243	CGT	C	G66087282C	ASL	NM_000048.4(ASL):c.603-90GT[19]	noncoding	Benign
7	66087243	CGTGT	C	G66087280C	ASL	NM_000048.4(ASL):c.603-90GT[18]	noncoding	Benign
7	66087243	CGTGTGTGT	C	G66087276C	ASL	NM_000048.4(ASL):c.603-90GT[16]	noncoding	Benign
7	66087360	GTGTGGACCGAGAGCTGC	G	G66087362C	ASL	NM_000048.4(ASL):c.631_647del:p.Val211fs	coding	Pathogenic/Likely_pathogenic
7	66087719	A	AC	A66087727C	ASL	NM_000048.4(ASL):c.656-3dup	noncoding	Benign
7	66089327	GACTT	G	T66089330A	ASL	NM_000048.4(ASL):c.973_976del:p.Leu325fs	coding	Pathogenic/Likely_pathogenic
7	66089345	C	CG	A66089351G	ASL	NM_000048.4(ASL):c.978+15dup	noncoding	Benign/Likely_benign
7	66089345	CG	C	G66089350A	ASL	NM_000048.4(ASL):c.978+15del	noncoding	Benign
7	66089706	AC	A	C66089712T	ASL	NM_000048.4(ASL):c.1062+17del	noncoding	Benign
7	66092461	GA	G	A66092477G	ASL	NM_000048.4(ASL):c.1144-80del	noncoding	Benign
7	66092843	CA	C	A66092844C	ASL	NM_000048.4(ASL):c.1327del:p.Thr443fs	coding	Pathogenic
7	66638276	CAG	C	A66638277G	KCTD7	NM_153033.5(KCTD7):c.339_340del:p.Asp115fs	coding	Pathogenic
7	66639054	CT	C	T66639058G	KCTD7	NM_153033.5(KCTD7):c.696del:p.Phe232fs	coding	Pathogenic
7	66988498	AC	A	C66988500T	SBDS	NM_016038.2(SBDS):c.625-1delG	coding	Pathogenic
7	66995316	G	GT	G66995322T	SBDS	NM_016038.4(SBDS):c.101dup:p.Asn34fs	coding	Pathogenic
7	69598633	A	AGCG	A69598654G	AUTS2	NM_015570.4(AUTS2):c.-1018GGC[7]	noncoding	Benign
7	69599972	AC	A	C69599978T	AUTS2	NM_015570.4(AUTS2):c.309+16del	noncoding	Benign
7	69600053	GCTGT	G	G69600084A	AUTS2	NM_015570.4(AUTS2):c.309+92CTGT[7]	noncoding	Benign
7	69600053	G	GCTGT	A69600088G	AUTS2	NM_015570.4(AUTS2):c.309+92CTGT[9]	noncoding	Benign
7	69899455	AGCACCTTG	C	A69899455C	AUTS2	NM_015570.4(AUTS2):c.479_487delinsC:p.Gln160fs	coding	Pathogenic
7	70118245	TAAA	T	A70118265T	AUTS2	NM_015570.4(AUTS2):c.624+32_624+34del	noncoding	Benign
7	70118245	TAA	T	A70118266T	AUTS2	NM_015570.4(AUTS2):c.624+33_624+34del	noncoding	Benign
7	70118245	TA	T	A70118267T	AUTS2	NM_015570.4(AUTS2):c.624+34del	noncoding	Benign
7	70118245	T	TA	T70118268A	AUTS2	NM_015570.4(AUTS2):c.624+34dup	noncoding	Benign
7	70698370	C	CA	C70698371A	AUTS2	NM_015570.4(AUTS2):c.691-199_691-198insA	noncoding	Benign
7	70698785	GCATTAA	G	T70698794A	AUTS2	NM_015570.4(AUTS2):c.742+174_742+179del	noncoding	Benign
7	70768374	GTC	G	C70768376G	AUTS2	NM_015570.4(AUTS2):c.1734+308_1734+309del	noncoding	Benign
7	70775357	T	TTGAC	A70775362T	AUTS2	NM_015570.4(AUTS2):c.1904_1907dup:p.Pro638fs	coding	Pathogenic
7	70775365	TC	T	C70775367T	AUTS2	NM_015570.4(AUTS2):c.1913del:p.Pro638fs	coding	Pathogenic
7	70775581	C	CT	A70775593T	AUTS2	NM_015570.4(AUTS2):c.1932+206dup	noncoding	Benign
7	70777163	CAG	C	G70777165A	AUTS2	NM_015570.4(AUTS2):c.1995_1996del:p.Lys666fs	coding	Pathogenic
7	70781364	CA	C	A70781384C	AUTS2	NM_015570.4(AUTS2):c.2005-231del	noncoding	Benign
7	70781364	C	CA	C70781385A	AUTS2	NM_015570.4(AUTS2):c.2005-231dup	noncoding	Benign
7	70784742	TAAAAAAAAAA	T	A70784764C	AUTS2	NM_015570.4(AUTS2):c.2147-178_2147-169del	noncoding	Benign
7	70784742	TAAAAAAAAA	T	A70784765C	AUTS2	NM_015570.4(AUTS2):c.2147-177_2147-169del	noncoding	Benign
7	70784742	TAAAAAAA	T	A70784767C	AUTS2	NM_015570.4(AUTS2):c.2147-175_2147-169del	noncoding	Benign
7	70784742	TA	T	A70784773C	AUTS2	NM_015570.4(AUTS2):c.2147-169del	noncoding	Benign
7	70784768	AAAAAAC	A	A70784770C	AUTS2	NM_015570.4(AUTS2):c.2147-172_2147-167del	noncoding	Benign
7	70785010	GC	G	C70785013A	AUTS2	NM_015570.4(AUTS2):c.2218del:p.His740fs	coding	Pathogenic
7	70786129	CTA	C	A70786131G	AUTS2	NM_015570.4(AUTS2):c.2308+93_2308+94del	noncoding	Benign
7	70787003	GA	G	A70787013G	AUTS2	NM_015570.4(AUTS2):c.2309-196del	noncoding	Benign
7	70790590	GCCACCACCA	G	A70790608C	AUTS2	NM_015570.4(AUTS2):c.3377ACC[5]:p.His1131_His1133del	coding	Benign/Likely_benign
7	70790590	GCCA	G	A70790614C	AUTS2	NM_015570.4(AUTS2):c.3377ACC[7]:p.His1133del	coding	Benign
7	73331695	A	AGTGGCAGCTACGGAACGGGAGT	T73331718G	FKBP6	NM_003602.5(FKBP6):c.508_529dup:p.Phe177fs	coding	Pathogenic
7	74028192	CG	C	G74028195T	ELN	NM_000501.4(ELN):c.8del:p.Gly3fs	coding	Pathogenic
7	74035375	GC	G	C74035377A	ELN	NM_000501.4(ELN):c.96del:p.Ile33fs	coding	Pathogenic
7	74037708	GC	G	C74037709T	ELN	NM_000501.4(ELN):c.166del:p.Leu56fs	coding	Pathogenic
7	74042427	C	CA	T74042441A	ELN	NM_000501.4(ELN):c.233-174dup	noncoding	Benign
7	74043005	CA	C	A74043006G	ELN	NM_000501.4(ELN):c.348del:p.Gly117fs	coding	Pathogenic
7	74046199	GC	G	C74046200T	ELN	NM_000501.4(ELN):c.554del:p.Ala185fs	coding	Pathogenic
7	74046703	AC	A	C74046706T	ELN	NM_000501.4(ELN):c.582del:p.Phe195fs	coding	Pathogenic
7	74048183	GGT	G	G74048184T	ELN	NM_000501.4(ELN):c.728_729del:p.Gly243fs	coding	Pathogenic
7	74051942	CAGCTGCAG	C	A74051943C	ELN	NM_000501.4(ELN):c.909_916del:p.Ala304fs	coding	Pathogenic
7	74053168	G	GCT	G74053171C	ELN	NM_000501.4(ELN):c.956_957dup:p.Ala320fs	coding	Pathogenic
7	74053285	G	GGGATCCCA	T74053296A	ELN	NM_000501.4(ELN):c.1075_1082dup:p.Ala362fs	coding	Pathogenic
7	74054470	C	CA	G74054486A	ELN	NM_000501.4(ELN):c.1097-231dup	noncoding	Benign
7	74056091	AT	A	T74056099A	ELN	NM_000501.4(ELN):c.1151-172del	noncoding	Benign
7	74056310	ACGGGGTTGG	A	C74056311A	ELN	NM_000501.4(ELN):c.1191_1199del:p.Tyr397_Gly400delinsTer	coding	Pathogenic
7	74057674	A	AG	C74057676G	ELN	NM_000501.4(ELN):c.1393dup:p.Ala465fs	coding	Pathogenic
7	74059906	GTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCT	G	T74059935A	ELN	NM_000501.4(ELN):c.1464_1517del:p.Leu497_Gly514del	coding	Benign/Likely_benign
7	74059923	C	CA	G74059924A	ELN	NM_000501.4(ELN):c.1452_1453insA:p.Val485fs	coding	Pathogenic
7	74060430	TC	T	C74060433T	ELN	NM_000501.4(ELN):c.1679del:p.Pro560fs	coding	Pathogenic
7	74060481	G	GT	G74060483T	ELN	NM_000501.4(ELN):c.1728dup:p.Val577fs	coding	Pathogenic
7	74060490	GC	G	C74060491T	ELN	NM_000501.4(ELN):c.1737del:p.Phe580fs	coding	Pathogenic
7	74060495	GG	CA	G74060495C	ELN	NM_000501.4(ELN):c.1741_1742delinsCA:p.Gly581Gln	coding	Pathogenic
7	74063646	AG	A	G74063648A	ELN	NM_000501.4(ELN):c.1946del:p.Gly649fs	coding	Pathogenic
7	74063673	TC	T	C74063675A	ELN	NM_000501.4(ELN):c.1973del:p.Pro658fs	coding	Pathogenic
7	75980499	CAG	C	G75980503C	POR	NM_001395413.1(POR):c.507+15_507+16del	noncoding	Benign
7	75983340	CA	C	A75983352G	POR	NM_001395413.1(POR):c.822-168del	noncoding	Benign
7	75983831	CG	C	G75983832T	POR	NM_001395413.1(POR):c.1033del:p.Val345fs	coding	Pathogenic
7	75984884	C	CT	G75984886T	POR	NM_001395413.1(POR):c.1166dup:p.Ala390fs	coding	Pathogenic
7	75984961	GCGCCCCCTCAGCCCCCGCAACCTC	G	C75984968G	POR	NM_001395413.1(POR):c.1239+10_1239+33del	noncoding	Benign/Likely_benign
7	75985171	GC	G	C75985172A	POR	NM_001395413.1(POR):c.1354del:p.Gln452fs	coding	Pathogenic/Likely_pathogenic
7	75985592	CTG	C	T75985595C	POR	NM_001395413.1(POR):c.1406_1407del:p.Val469fs	coding	Pathogenic
7	75985937	G	GAGAC	G75985942A	POR	NM_001395413.1(POR):c.1676_1679dup:p.Leu561fs	coding	Pathogenic
7	76065027	TC	T	C76065030T	MDH2	NM_005918.4(MDH2):c.885+77del	noncoding	Benign
7	76303081	G	GC	T76303088C	HSPB1	NM_001540.5(HSPB1):c.364+11dup	noncoding	Benign
7	76303791	T	TC	A76303798C	HSPB1	NM_001540.5(HSPB1):c.365-5dup	noncoding	Benign/Likely_benign
7	76330231	C	CA	C76330233A	YWHAG	NM_012479.4(YWHAG):c.89dup:p.Thr31fs	coding	Pathogenic
7	76432993	AGAG	A	G76432997A	ZP3	NM_001110354.2(ZP3):c.499GAG[1]:p.Glu168del	coding	Pathogenic
7	78078810	GTGTA	G	G78078812A	MAGI2	NM_012301.4(MAGI2):c.3706+133_3706+136del	noncoding	Benign
7	78168158	C	CT	C78168173T	MAGI2	NM_012301.4(MAGI2):c.2404-64dup	noncoding	Benign
7	78168158	CT	C	T78168172C	MAGI2	NM_012301.4(MAGI2):c.2404-51del	noncoding	Benign
7	78489904	G	GAA	G78489914A	MAGI2	NM_012301.4(MAGI2):c.966-73_966-72dup	noncoding	Benign
7	78489904	G	GA	G78489914A	MAGI2	NM_012301.4(MAGI2):c.966-73dup	noncoding	Benign
7	78501484	C	CT	C78501500T	MAGI2	NM_012301.4(MAGI2):c.965+78dup	noncoding	Benign
7	78501484	C	CTT	C78501500T	MAGI2	NM_012301.4(MAGI2):c.965+78_965+79dup	noncoding	Benign
7	78501484	C	CTTT	C78501500T	MAGI2	NM_012301.4(MAGI2):c.965+78_965+80dup	noncoding	Benign
7	78501484	CT	C	T78501499C	MAGI2	NM_012301.4(MAGI2):c.965+92del	noncoding	Benign
7	78521177	ATATGCCAAAAATGTTTT	A	A78521179G	MAGI2	NM_012301.4(MAGI2):c.754+236_754+252del	noncoding	Benign
7	78521232	TC	T	C78521234A	MAGI2	NM_012301.4(MAGI2):c.754+197del	noncoding	Benign
7	79453799	CGT	C	G79453822A	MAGI2	Single_allele	noncoding	Benign
7	79453799	CGTGT	C	G79453820A	MAGI2	Single_allele	noncoding	Benign
7	80661095	AG	A	G80661097A	CD36	NM_001001548.3(CD36):c.316del:p.Asp106fs	coding	Pathogenic
7	80664432	TAA	T	A80664434G	CD36	NM_001001548.3(CD36):c.638_639del:p.Lys213fs	coding	Pathogenic
7	80664458	T	TAAGTA	T80664468A	CD36	NM_001001548.3(CD36):c.667_671dup:p.Ala225fs	coding	Pathogenic
7	80666125	GA	G	A80666136T	CD36	NM_001001548.3(CD36):c.702-307del	noncoding	Benign
7	80670179	A	AT	G80670194T	CD36	NM_001001548.3(CD36):c.818+171dup	noncoding	Benign
7	80670179	AT	A	T80670193G	CD36	NM_001001548.3(CD36):c.818+171del	noncoding	Benign
7	80672000	C	CAAATGAAGAAGAACATAGGACATA	C80672025A	CD36	NM_001001548.3(CD36):c.1086_1109dup:p.Tyr370Ter	coding	Pathogenic
7	80672833	GA	G	A80672839T	CD36	NM_001001548.3(CD36):c.1195del:p.Ile399fs	coding	Pathogenic
7	80674384	AGCACAAATAAAGCACT	A	G80674385T	CD36	NM_001001548.3(CD36):c.*1419+238_*1419+253del	noncoding	Benign
7	81705870	TA	T	A81705887G	HGF	NM_000601.6(HGF):c.1758-118del	noncoding	Benign
7	81729800	CA	C	A81729809C	HGF	NM_000601.6(HGF):c.866-22del	noncoding	Benign
7	81755188	ATTTCATCATC	A	A81755203C	HGF	NM_000601.6(HGF):c.482+1991_482+2000del	noncoding	Pathogenic
7	81755200	TTCA	T	A81755206T	HGF	NM_000601.6(HGF):c.482+1986_482+1988del	noncoding	Pathogenic
7	81756901	C	CAGAAAG	G81756904A	HGF	NM_000601.6(HGF):c.482+287_482+288insCTCTTT	noncoding	Benign
7	81769724	C	CA	G81769732A	HGF	NM_000601.6(HGF):c.88+153dup	noncoding	Benign
7	81950516	TA	T	A81950526G	CACNA2D1	NM_000722.4(CACNA2D1):c.3160-9del	noncoding	Benign
7	81950516	T	TAA	G81950527A	CACNA2D1	NM_000722.4(CACNA2D1):c.3160-18_3160-17dup	noncoding	Benign
7	81950523	AAAAG	A	G81950527A	CACNA2D1	NM_000722.4(CACNA2D1):c.3160-19_3160-16del	noncoding	Benign
7	81962510	TA	T	A81962520T	CACNA2D1	NM_000722.4(CACNA2D1):c.2781-16del	noncoding	Benign
7	81962510	T	TA	T81962521A	CACNA2D1	NM_000722.4(CACNA2D1):c.2781-16dup	noncoding	Benign
7	81962633	A	AAATT	T81962639A	CACNA2D1	NM_000722.4(CACNA2D1):c.2781-142_2781-139dup	noncoding	Benign
7	81968975	TA	T	A81968985T	CACNA2D1	NM_000722.4(CACNA2D1):c.2309-3del	noncoding	Benign/Likely_benign
7	81968975	T	TA	T81968986A	CACNA2D1	NM_000722.4(CACNA2D1):c.2309-12dup	noncoding	Benign/Likely_benign
7	81974629	AT	A	T81974641A	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-78del	noncoding	Benign
7	81974650	CA	C	A81974652G	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-99del	noncoding	Benign
7	81997396	TTA	T	T81997409G	CACNA2D1	NM_000722.4(CACNA2D1):c.1591-160TA[6]	noncoding	Benign
7	81997455	C	CTTAA	A81997461T	CACNA2D1	NM_000722.4(CACNA2D1):c.1591-209_1591-206dup	noncoding	Benign
7	82005506	G	GA	G82005521A	CACNA2D1	NM_000722.4(CACNA2D1):c.1516-23dup	noncoding	Benign
7	82006028	C	CATT	C82006031T	CACNA2D1	NM_000722.4(CACNA2D1):c.1441-190_1441-189insATA	noncoding	Benign
7	82012254	GA	G	A82012267G	CACNA2D1	NM_000722.4(CACNA2D1):c.1273-12del	noncoding	Benign
7	82012254	G	GAAAAA	G82012268A	CACNA2D1	NM_000722.4(CACNA2D1):c.1273-16_1273-12dup	noncoding	Benign/Likely_benign
7	82012254	G	GA	G82012268A	CACNA2D1	NM_000722.4(CACNA2D1):c.1273-12dup	noncoding	Benign
7	82066526	TAA	T	A82066541G	CACNA2D1	NM_000722.4(CACNA2D1):c.659-4_659-3del	noncoding	Benign/Likely_benign
7	82066541	A	AG	A82066542G	CACNA2D1	NM_000722.4(CACNA2D1):c.659-18_659-17insC	noncoding	Benign
7	82066541	AAG	A	G82066547T	CACNA2D1	NM_000722.4(CACNA2D1):c.659-23CT[2]	noncoding	Benign/Likely_benign
7	82084905	C	CA	G82084912A	CACNA2D1	NM_000722.4(CACNA2D1):c.527-6dup	noncoding	Benign
7	82117217	CAT	C	T82117219A	CACNA2D1	NM_000722.4(CACNA2D1):c.397-46_397-45del	noncoding	Benign
7	82136546	C	CTTAAAAACT	A82136548T	CACNA2D1	NM_000722.4(CACNA2D1):c.396+88_396+89insAAGTTTTTA	noncoding	Benign
7	82335262	GA	G	A82335272C	CACNA2D1	NM_000722.4(CACNA2D1):c.178-12del	noncoding	Benign
7	82758719	G	GA	T82758726A	PCLO	NM_033026.6(PCLO):c.15289-5dup	noncoding	Benign
7	82805755	AC	A	C82805758A	PCLO	NM_033026.6(PCLO):c.14865del:p.Tyr4956fs	coding	Pathogenic
7	82824218	TA	T	A82824225T	PCLO	NM_033026.6(PCLO):c.14596+17del	noncoding	Benign
7	82824419	GA	G	A82824426G	PCLO	NM_033026.6(PCLO):c.14416-4del	noncoding	Benign
7	82952172	T	TTCA	T82952178A	PCLO	NM_033026.6(PCLO):c.8778_8780dup:p.Asp2926dup	coding	Benign
7	82952725	T	TTATCAGTTGTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A82952739T	PCLO	NM_033026.6(PCLO):c.8227_8228insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAACAACTGATA:p.Lys2743delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
7	82953213	A	AT	A82953215T	PCLO	NM_033026.6(PCLO):c.7739dup:p.Tyr2580Ter	coding	Pathogenic
7	82956559	TCTGAAATAGTAATTTCCA	T	C82956560A	PCLO	NM_033026.6(PCLO):c.4376_4393del:p.Leu1459_Glu1465delinsTer	coding	Pathogenic
7	82956594	C	CT	G82956596T	PCLO	NM_033026.6(PCLO):c.4358dup:p.Ser1454fs	coding	Pathogenic
7	82966494	G	GA	T82966502A	PCLO	NM_033026.6(PCLO):c.3301-8dup	noncoding	Benign
7	83134638	GAAGGGGCAGGGGCTTGTTTCATTGGGGCCCCTGGTCCACTTTGTGAATGAGGTCCAGGTTGGCCTGCAGTGGAAATTAAATTTGATGCCTGGCTGAAGATTGATGCTCCAAACCCAAAGAGTTTCCCAGTCACGGTCTCTTGAGGAGTTGTAGGCTGTGATTTGGGGGCATCAGTAATACTTCC	T	G83134638T	PCLO	NM_033026.6(PCLO):c.2728_2912delinsA:p.Gly910fs	coding	Pathogenic
7	83135460	GC	G	C83135462T	PCLO	NM_033026.6(PCLO):c.2089del:p.Ala697fs	coding	Pathogenic
7	83367517	G	GATTT	T83367526A	SEMA3E	NM_012431.3(SEMA3E):c.*61AAAT[3]	noncoding	Benign
7	83368193	ATC	A	C83368209G	SEMA3E	NM_012431.3(SEMA3E):c.1876-171GA[7]	noncoding	Benign
7	83368193	ATCTC	A	C83368207G	SEMA3E	NM_012431.3(SEMA3E):c.1876-171GA[6]	noncoding	Benign
7	83368193	ATCTCTC	A	C83368205G	SEMA3E	NM_012431.3(SEMA3E):c.1876-171GA[5]	noncoding	Benign
7	83368203	CTCTCTCTG	C	C83368205G	SEMA3E	NM_012431.3(SEMA3E):c.1876-173_1876-166del	noncoding	Benign
7	83368205	CTCTCTG	C	C83368207G	SEMA3E	NM_012431.3(SEMA3E):c.1876-173_1876-168del	noncoding	Benign
7	83368207	CTCTG	C	C83368209G	SEMA3E	NM_012431.3(SEMA3E):c.1876-173_1876-170del	noncoding	Benign
7	83368209	CTG	C	G83368237A	SEMA3E	NM_012431.3(SEMA3E):c.1876-199CA[13]	noncoding	Benign
7	83368290	CATTTT	C	T83368293A	SEMA3E	NM_012431.3(SEMA3E):c.1876-257_1876-253del	noncoding	Benign
7	83387346	ATCT	A	T83387350A	SEMA3E	NM_012431.3(SEMA3E):c.1668-299_1668-297del	noncoding	Benign
7	83392483	TAAAA	T	A83392498G	SEMA3E	NM_012431.3(SEMA3E):c.1667+68_1667+71del	noncoding	Benign
7	83392483	TAAA	T	A83392499G	SEMA3E	NM_012431.3(SEMA3E):c.1667+69_1667+71del	noncoding	Benign
7	83392483	TAA	T	A83392500G	SEMA3E	NM_012431.3(SEMA3E):c.1667+70_1667+71del	noncoding	Benign
7	83394271	TAC	T	C83394287G	SEMA3E	NM_012431.3(SEMA3E):c.1500+10GT[7]	noncoding	Benign
7	83394271	T	TACAC	G83394289C	SEMA3E	NM_012431.3(SEMA3E):c.1500+10GT[10]	noncoding	Benign
7	83394348	T	TA	G83394355A	SEMA3E	NM_012431.3(SEMA3E):c.1459-11dup	noncoding	Benign
7	83394582	T	TTGTCTC	G83394585T	SEMA3E	NM_012431.3(SEMA3E):c.1459-245_1459-244insCAGAGA	noncoding	Benign
7	83396784	C	CAA	C83396792A	SEMA3E	NM_012431.3(SEMA3E):c.1367-62_1367-61dup	noncoding	Benign
7	83402787	C	CA	G83402794A	SEMA3E	NM_012431.3(SEMA3E):c.999-12dup	noncoding	Benign
7	83466611	GA	G	A83466618G	SEMA3E	NM_012431.3(SEMA3E):c.337-11del	noncoding	Benign/Likely_benign
7	83466611	G	GA	G83466619A	SEMA3E	NM_012431.3(SEMA3E):c.337-11dup	noncoding	Benign/Likely_benign
7	83469112	A	AT	C83469119T	SEMA3E	NM_012431.3(SEMA3E):c.336+125dup	noncoding	Benign
7	83648383	C	CT	A83648399T	SEMA3E	NM_012431.3(SEMA3E):c.115+30dup	noncoding	Benign
7	83648383	CT	C	T83648398A	SEMA3E	NM_012431.3(SEMA3E):c.115+44del	noncoding	Benign
7	83648882	GAA	G	A83648897G	SEMA3E	NM_012431.3(SEMA3E):c.-342_-341del	noncoding	Benign
7	83648882	GA	G	A83648898G	SEMA3E	NM_012431.3(SEMA3E):c.-341del	noncoding	Benign
7	83648882	G	GA	G83648899A	SEMA3E	NM_012431.3(SEMA3E):c.-341dup	noncoding	Benign
7	83648903	G	GA	C83648911A	SEMA3E	NM_012431.3(SEMA3E):c.-362dup	noncoding	Benign
7	83648910	AC	A	C83648911A	SEMA3E	NM_012431.3(SEMA3E):c.-369del	noncoding	Benign
7	83649269	TGGGGA	T	G83649271T	SEMA3E	Single_allele	noncoding	Benign
7	83977037	T	TGA	T83977044G	SEMA3A	NM_006080.3(SEMA3A):c.1717+89TC[4]	noncoding	Benign
7	83985485	AG	A	G83985486A	SEMA3A	NM_006080.3(SEMA3A):c.1453-9del	noncoding	Benign
7	84001678	T	TTACA	A84001681C	SEMA3A	NM_006080.3(SEMA3A):c.1452+276_1452+277insTATG	noncoding	Benign
7	84002133	CAAAG	C	A84002136C	SEMA3A	NM_006080.3(SEMA3A):c.1361-91_1361-88del	noncoding	Benign
7	84010733	AT	A	T84010735A	SEMA3A	NM_006080.3(SEMA3A):c.995+288del	noncoding	Benign
7	84010737	TAATAATG	T	A84010738T	SEMA3A	NM_006080.3(SEMA3A):c.995+278_995+284del	noncoding	Benign
7	84011103	C	CA	T84011108A	SEMA3A	NM_006080.3(SEMA3A):c.926-13dup	noncoding	Benign
7	84060441	TTTAA	T	A84060444G	SEMA3A	NM_006080.3(SEMA3A):c.547+20_547+23del	noncoding	Benign
7	84110693	C	CT	G84110707T	SEMA3A	NM_006080.3(SEMA3A):c.334-117dup	noncoding	Benign
7	84194796	GAAA	G	A84194811T	SEMA3A	Single_allele	noncoding	Benign
7	84194796	GA	G	A84194813T	SEMA3A	Single_allele	noncoding	Benign
7	87406584	G	GCAT	G87406588C	ABCB4	NM_000443.4(ABCB4):c.3280-93_3280-91dup	noncoding	Benign
7	87417339	ATC	A	C87417343T	ABCB4	NM_000443.4(ABCB4):c.2653_2654del:p.Arg884_Asp885insTer	coding	Pathogenic
7	87417580	GC	G	C87417582T	ABCB4	NM_000443.4(ABCB4):c.2479-66del	noncoding	Benign
7	87419795	AAC	A	C87419797A	ABCB4	NM_000443.4(ABCB4):c.2394+201_2394+202del	noncoding	Benign
7	87419796	AC	A	C87419797A	ABCB4	NM_000443.4(ABCB4):c.2394+201del	noncoding	Benign
7	87419803	C	CA	C87419814A	ABCB4	NM_000443.4(ABCB4):c.2394+185dup	noncoding	Benign
7	87426539	AT	A	T87426547C	ABCB4	NM_000443.4(ABCB4):c.2064+210del	noncoding	Benign
7	87426944	A	AGT	C87426981G	ABCB4	NM_000443.4(ABCB4):c.1894-60AC[19]	noncoding	Benign
7	87426944	A	AGTGT	C87426981G	ABCB4	NM_000443.4(ABCB4):c.1894-60AC[20]	noncoding	Benign
7	87426944	A	AGTGTGT	C87426981G	ABCB4	NM_000443.4(ABCB4):c.1894-60AC[21]	noncoding	Benign
7	87426944	A	AGTGTGTGT	C87426981G	ABCB4	NM_000443.4(ABCB4):c.1894-60AC[22]	noncoding	Benign
7	87426944	AGTGTGTGT	A	G87426973C	ABCB4	NM_000443.4(ABCB4):c.1894-60AC[14]	noncoding	Benign
7	87426945	G	GTGTT	G87426949T	ABCB4	NM_000443.4(ABCB4):c.1894-26_1894-25insACAA	noncoding	Benign
7	87443524	GA	G	A87443532G	ABCB4	NM_000443.4(ABCB4):c.1231-81del	noncoding	Benign
7	88210843	G	GA	T88210850A	SRI	NM_003130.4(SRI):c.249+33dup	noncoding	Benign
7	88220357	CTT	C	T88220371C	SRI	NM_198901.2(SRI):c.7-1417_7-1416del	noncoding	Benign
7	91940571	G	GA	C91940582A	AKAP9	Single_allele	noncoding	Benign
7	91992661	C	CAA	C91992686A	AKAP9	NM_005751.5(AKAP9):c.406-201_406-200dup	noncoding	Benign
7	91992661	C	CA	C91992686A	AKAP9	NM_005751.5(AKAP9):c.406-200dup	noncoding	Benign
7	92022863	T	TA	C92022867A	AKAP9	NM_005751.5(AKAP9):c.4005dup:p.Leu1336fs	coding	Benign
7	92022864	A	AC	A92022865C	AKAP9	NM_005751.5(AKAP9):c.4003_4004insC:p.Lys1335fs	coding	Benign
7	92022865	A	AAAC	C92022867A	AKAP9	NM_005751.5(AKAP9):c.4005_4006insACA:p.Lys1335_Leu1336insThr	coding	Benign
7	92022865	A	AC	A92022866C	AKAP9	NM_005751.5(AKAP9):c.4004_4005insC:p.Lys1335fs	coding	Benign
7	92029999	AT	A	T92030004A	AKAP9	NM_005751.5(AKAP9):c.4245+13del	noncoding	Benign
7	92040646	G	GT	A92040664T	AKAP9	NM_005751.5(AKAP9):c.4693-11dup	noncoding	Benign
7	92041004	A	AT	G92041020T	AKAP9	NM_005751.5(AKAP9):c.4917+121dup	noncoding	Benign
7	92042030	C	CT	C92042037T	AKAP9	NM_005751.5(AKAP9):c.4918-10dup	noncoding	Benign
7	92044876	G	GTAT	T92044881A	AKAP9	NM_005751.5(AKAP9):c.5163-130_5163-128dup	noncoding	Benign
7	92061584	C	CTA	A92061621T	AKAP9	NM_005751.5(AKAP9):c.5764+163TA[19]	noncoding	Benign
7	92061584	C	CTATA	A92061621T	AKAP9	NM_005751.5(AKAP9):c.5764+163TA[20]	noncoding	Benign
7	92061584	CTA	C	T92061619A	AKAP9	NM_005751.5(AKAP9):c.5764+163TA[17]	noncoding	Benign
7	92061584	CTATATA	C	T92061615A	AKAP9	NM_005751.5(AKAP9):c.5764+163TA[15]	noncoding	Benign
7	92061584	CTATATATA	C	T92061613A	AKAP9	NM_005751.5(AKAP9):c.5764+163TA[14]	noncoding	Benign
7	92071327	AAT	A	A92071332C	AKAP9	NM_005751.5(AKAP9):c.6612+319AT[2]	noncoding	Benign
7	92077067	T	TTTA	T92077091A	AKAP9	NM_005751.5(AKAP9):c.6765+61TTA[8]	noncoding	Benign
7	92077092	C	CT	C92077096T	AKAP9	NM_005751.5(AKAP9):c.6765+88dup	noncoding	Benign
7	92131736	G	GT	C92131750T	CYP51A1	NM_000786.4(CYP51A1):c.291+25dup	noncoding	Benign
7	92131736	G	GTT	C92131750T	CYP51A1	NM_000786.4(CYP51A1):c.291+25_291+26dup	noncoding	Benign
7	92131991	CA	C	A92132000G	CYP51A1	NM_000786.4(CYP51A1):c.193-120del	noncoding	Benign
7	92201347	C	CTA	G92201351A	KRIT1	NM_194454.3(KRIT1):c.2100_2101dup:p.Ser701fs	coding	Pathogenic
7	92201422	G	GC	T92201425C	KRIT1	NC_000007.13:g.91830736_91830737insC	coding	Pathogenic
7	92213239	CT	AC	C92213239A	KRIT1	NM_194454.3(KRIT1):c.1980_1981delinsGT:p.Gly661Ter	coding	Pathogenic
7	92213279	CT	C	T92213282G	KRIT1	NM_194454.3(KRIT1):c.1940del:p.Lys647fs	coding	Pathogenic
7	92213291	CTG	C	G92213293C	KRIT1	NM_194454.3(KRIT1):c.1927_1928del:p.Gln643fs	coding	Pathogenic
7	92213338	TCTGTAAGA	T	C92213339A	KRIT1	NM_194454.3(KRIT1):c.1874_1881del:p.Met624_Phe625insTer	coding	Pathogenic
7	92213352	C	CG	C92213354G	KRIT1	NM_194454.3(KRIT1):c.1867dup:p.Arg623fs	coding	Pathogenic
7	92213360	GT	G	T92213361G	KRIT1	NM_194454.3(KRIT1):c.1859del:p.His620fs	coding	Pathogenic
7	92214626	TTG	T	G92214630T	KRIT1	NM_194454.3(KRIT1):c.1713_1714del:p.His571fs	coding	Pathogenic
7	92222018	G	GT	G92222021T	KRIT1	NM_194454.3(KRIT1):c.1446dup:p.His483fs	coding	Pathogenic
7	92222842	CAT	C	T92222846G	KRIT1	NM_194454.3(KRIT1):c.1389_1390del:p.Ile463fs	coding	Pathogenic
7	92222935	GA	G	A92222937C	KRIT1	NM_194454.3(KRIT1):c.1297del:p.Ser433fs	coding	Pathogenic
7	92222945	A	AC	A92222949C	KRIT1	NM_194454.3(KRIT1):c.1287dup:p.Ser430fs	coding	Pathogenic
7	92222945	AC	A	C92222948A	KRIT1	NM_194454.3(KRIT1):c.1287del:p.Ser430fs	coding	Pathogenic
7	92222959	TATATTCGAACTTTTTC	T	T92222963C	KRIT1	NM_194454.3(KRIT1):c.1255_1270del16:p.Glu420fs	coding	Pathogenic
7	92225798	T	TG	A92225801G	KRIT1	NM_194454.3(KRIT1):c.1175dup:p.Leu393fs	coding	Pathogenic
7	92225807	TC	T	C92225809T	KRIT1	NM_194454.3(KRIT1):c.1166del:p.Gly389fs	coding	Pathogenic
7	92225822	T	TC	A92225823C	KRIT1	NM_194454.3(KRIT1):c.1151_1152insG:p.Ile384fs	coding	Pathogenic
7	92226528	TATCC	T	A92226529G	KRIT1	NM_194454.3(KRIT1):c.1140_1143del:p.Arg382fs	coding	Pathogenic
7	92226572	T	TG	T92226574G	KRIT1	NM_194454.3(KRIT1):c.1099dup:p.His367fs	coding	Pathogenic
7	92226574	TC	T	C92226576T	KRIT1	NM_194454.3(KRIT1):c.1097del:p.Gly366fs	coding	Pathogenic
7	92226640	TC	T	C92226642T	KRIT1	NM_194454.3(KRIT1):c.1031del:p.Gly344fs	coding	Pathogenic
7	92234561	GGA	G	A92234565G	KRIT1	NM_194454.3(KRIT1):c.875_876del:p.Leu292fs	coding	Pathogenic
7	92234916	TTATC	T	T92234919C	KRIT1	NM_194454.3(KRIT1):c.733_736del:p.Asp245fs	coding	Pathogenic
7	92235432	AC	A	C92235433A	KRIT1	NM_194454.3(KRIT1):c.699del:p.Leu233fs	coding	Pathogenic
7	92235484	CTT	C	T92235486A	KRIT1	NM_194454.3(KRIT1):c.646_647del:p.Lys216fs	coding	Pathogenic
7	92235502	A	AT	A92235504T	KRIT1	NM_194454.3(KRIT1):c.629dup:p.Tyr210Ter	coding	Pathogenic
7	92241111	C	CT	C92241120T	KRIT1	NM_194454.3(KRIT1):c.143dup:p.Arg49fs	coding	Pathogenic
7	92241111	CT	C	T92241119C	KRIT1	NM_194454.3(KRIT1):c.143del:p.Lys48fs	coding	Pathogenic
7	92447459	TC	T	C92447466A	GATAD1	Single_allele	noncoding	Benign
7	92487544	G	GA	G92487551A	PEX1	NM_000466.3(PEX1):c.3768-4dup	noncoding	Benign
7	92489430	TA	T	A92489437G	PEX1	NM_000466.3(PEX1):c.3637-8del	noncoding	Benign
7	92489430	T	TA	G92489438A	PEX1	NM_000466.3(PEX1):c.3637-8dup	noncoding	Benign
7	92489727	CG	C	G92489729T	PEX1	NM_000466.3(PEX1):c.3622del:p.Arg1208fs	coding	Pathogenic
7	92491377	TAAAG	T	G92491381C	PEX1	NM_000466.3(PEX1):c.3329_3332del:p.Val1109_Ser1110insTer	coding	Pathogenic/Likely_pathogenic
7	92491449	AAG	A	G92491451A	PEX1	NM_000466.3(PEX1):c.3259_3260del:p.Phe1086_Leu1087insTer	coding	Pathogenic
7	92491451	GA	G	A92491454G	PEX1	NM_000466.3(PEX1):c.3258del:p.Asn1088fs	coding	Pathogenic
7	92491452	AAAGACCATTG	A	C92491458A	PEX1	NM_000466.3(PEX1):c.3248_3257del:p.Ser1083fs	coding	Pathogenic
7	92491679	AT	A	T92491681A	PEX1	NM_000466.3(PEX1):c.3208-178del	noncoding	Benign
7	92492979	C	CA	T92492981A	PEX1	NM_000466.3(PEX1):c.3180dup:p.Gly1061fs	coding	Pathogenic
7	92493001	A	AT	G92493004T	PEX1	NM_000466.3(PEX1):c.3158dup:p.Asn1053fs	coding	Pathogenic
7	92493003	TGTAAA	T	T92493010C	PEX1	NM_000466.3(PEX1):c.3152_3156del:p.Leu1051fs	coding	Pathogenic
7	92494311	G	GTATACAC	A92494319T	PEX1	NM_000466.3(PEX1):c.3005_3011dup:p.Tyr1004Ter	coding	Pathogenic
7	92494345	A	AG	C92494349G	PEX1	NM_000466.3(PEX1):c.2977dup:p.Leu993fs	coding	Pathogenic
7	92494408	AAG	A	G92494410A	PEX1	NM_000466.3(PEX1):c.2927-14_2927-13del	noncoding	Benign
7	92494537	CGG	C	G92494538T	PEX1	NM_000466.3(PEX1):c.2874_2875del:p.Asp958fs	coding	Pathogenic
7	92494553	T	TA	T92494555A	PEX1	NM_000466.3(PEX1):c.2859dup:p.Thr954fs	coding	Pathogenic/Likely_pathogenic
7	92496754	G	GTATT	G92496760A	PEX1	NM_000466.3(PEX1):c.2738_2741dup:p.Tyr914Ter	coding	Pathogenic
7	92499728	ACT	A	T92499734G	PEX1	NM_000466.3(PEX1):c.2692_2693del:p.Glu897_Ser898insTer	coding	Pathogenic
7	92499847	C	CAA	T92499860A	PEX1	NM_000466.3(PEX1):c.2584-21_2584-20dup	noncoding	Benign
7	92501370	TA	T	A92501372G	PEX1	NM_000466.3(PEX1):c.2583+136del	noncoding	Benign
7	92501491	C	CT	A92501499T	PEX1	NM_000466.3(PEX1):c.2583+15dup	noncoding	Benign
7	92501539	T	TC	T92501541C	PEX1	NM_000466.3(PEX1):c.2550dup:p.Ile851fs	coding	Pathogenic
7	92501553	T	TGA	T92501555A	PEX1	NM_000466.3(PEX1):c.2536_2537insTC:p.His846fs	coding	Pathogenic
7	92501612	C	CAAAGACGCAGGAAG	T92501630G	PEX1	NM_000466.3(PEX1):c.2464_2477dup:p.Leu826fs	coding	Pathogenic
7	92503102	AG	A	G92503103T	PEX1	NM_000466.3(PEX1):c.2164del:p.Val723fs	coding	Pathogenic
7	92503182	CAT	C	A92503185C	PEX1	NM_000466.3(PEX1):c.2083_2084del:p.Met695fs	coding	Pathogenic
7	92504738	CAAGCCGCTGGCTCTGCACCGCATCAGGACTGTGCTCATGTTCCGGGACAGCAGGCAGTCCAGCAATGAGGTCAAGGTCATCCAGCAGGACAACAGATGGCTGCATCCACACTGCCTCTGAGAAAGCCACCTCTAGGGTTTTTTGTATGTTTTCAAGCCT	C	A92504739T	PEX1	NM_000466.3(PEX1):c.1906_2064del:p.Arg636_Leu688del	coding	Pathogenic
7	92504763	AG	A	G92504765A	PEX1	NM_000466.3(PEX1):c.2039del:p.Pro680fs	coding	Pathogenic
7	92504835	TGGCTG	T	G92504836C	PEX1	NM_000466.3(PEX1):c.1963_1967del:p.Gln655fs	coding	Pathogenic
7	92504847	CA	C	A92504848C	PEX1	NM_000466.3(PEX1):c.1955del:p.Val652fs	coding	Pathogenic
7	92504875	G	GT	G92504882T	PEX1	NM_000466.3(PEX1):c.1927dup:p.Thr643fs	coding	Pathogenic/Likely_pathogenic
7	92504886	G	GT	C92504891T	PEX1	NM_000466.3(PEX1):c.1916dup:p.Asn639fs	coding	Pathogenic
7	92506105	A	AAAGACTTAAAATTTCT	A92506110C	PEX1	NM_000466.3(PEX1):c.1900+142_1900+143insTCTTAGAAATTTTAAG	noncoding	Benign
7	92506256	GC	G	C92506257T	PEX1	NM_000466.3(PEX1):c.1891del:p.Ala631fs	coding	Pathogenic
7	92506308	T	TAC	G92506312C	PEX1	NM_000466.3(PEX1):c.1838_1839dup:p.Lys614fs	coding	Pathogenic/Likely_pathogenic
7	92507080	TGTGA	T	G92507085T	PEX1	NM_000466.3(PEX1):c.1713_1716del:p.His572fs	coding	Pathogenic
7	92507130	T	TA	T92507137A	PEX1	NM_000466.3(PEX1):c.1671-5dup	noncoding	Benign
7	92507185	T	TA	T92507193A	PEX1	NM_000466.3(PEX1):c.1671-66dup	noncoding	Benign
7	92507245	CT	C	T92507256G	PEX1	NM_000466.3(PEX1):c.1671-120del	noncoding	Benign
7	92509135	GA	G	A92509146G	PEX1	NM_000466.3(PEX1):c.1670+193del	noncoding	Benign
7	92511008	T	TC	A92511012C	PEX1	NM_000466.3(PEX1):c.1522dup:p.Glu508fs	coding	Pathogenic/Likely_pathogenic
7	92511668	TAC	T	C92511670G	PEX1	NM_000466.3(PEX1):c.1393_1394del:p.Val465fs	coding	Pathogenic
7	92513847	CTAAATTCTCTCTAGGTTGTAACTTTAGAGATCTTGGAATTTTAGGGGTAACTTCCACTGGAGTTATCCTGACTACGGCATGCATTTCTATATTTAGTCTCTTCCTCAGGTCATCTGGAAT	C	T92513848C	PEX1	NM_000466.3(PEX1):c.1240_1359del:p.Ile414_Leu453del	noncoding	Pathogenic
7	92513976	TA	T	A92513981T	PEX1	NM_000466.3(PEX1):c.1240-10del	noncoding	Benign
7	92517306	AT	A	T92517311G	PEX1	NM_000466.3(PEX1):c.1208del:p.Asn403fs	coding	Pathogenic
7	92517438	CT	C	T92517440C	PEX1	NM_000466.3(PEX1):c.1076del:p.Lys359fs	coding	Pathogenic/Likely_pathogenic
7	92517498	AAGTAG	A	A92517499C	PEX1	NM_000466.3(PEX1):c.1012_1016del:p.Leu338fs	coding	Pathogenic
7	92517680	TTGAC	T	A92517683C	PEX1	NM_000466.3(PEX1):c.831_834del:p.Ser278fs	coding	Pathogenic
7	92517725	ATG	A	G92517727C	PEX1	NM_000466.3(PEX1):c.788_789del:p.Thr263fs	coding	Pathogenic
7	92517727	GTC	G	C92517731T	PEX1	NM_000466.3(PEX1):c.786_787del:p.Glu262fs	coding	Pathogenic
7	92517854	TTGAC	T	C92517858A	PEX1	NM_000466.3(PEX1):c.657_660del:p.Ser220fs	coding	Pathogenic
7	92517867	CTTGGT	C	G92517871A	PEX1	NM_000466.3(PEX1):c.643_647del:p.Thr215fs	coding	Pathogenic/Likely_pathogenic
7	92517973	G	GTCTT	G92517979C	PEX1	NM_000466.3(PEX1):c.538_541dup:p.Thr181fs	coding	Pathogenic
7	92518168	GATCAACCCAA	G	T92518170C	PEX1	NM_000466.3(PEX1):c.435_444del:p.Trp146fs	coding	Pathogenic
7	92519046	AG	A	G92519047A	PEX1	NM_000466.3(PEX1):c.305del:p.Ser102fs	coding	Pathogenic
7	92522105	TC	T	C92522110A	PEX1	NM_000466.3(PEX1):c.269del:p.Gly90fs	coding	Pathogenic
7	92522424	TG	T	G92522426A	PEX1	NM_000466.3(PEX1):c.130-180del	noncoding	Benign
7	92528355	GCAGTCGCGAGCGTTGGTGAAGGCCA	G	G92528361A	PEX1	NM_000466.3(PEX1):c.56_80del:p.Val19fs	coding	Pathogenic
7	92528409	ACCCGCCAGGCGATCGCTGCCCCACATCGTCCCGGAGCGTCGCTCTGGGTTCGCCCACCCTAGCGCCGCAAAGGACCCGGGACCCGGCAGGCCGAGGACGTCGGAGCCGGAGGAGATCGATCGGCCCCGCCCCCTGCGGCCCCGCCCCCTCTCCCCGCTGCGCATCCTGCCGTAAGCCTGTAGTGGGTGGGACAAGAAAGCTTCTGTCACCCACCGCGCCTCTCCGCCGAGCCGCTCGGGGGCGGCACCTCGTTCATCAAATCTTCGCACGCAGGAAACGATGGCCGACGCTGTCGATTCTC	A	C92528411A	PEX1	NC_000007.13:g.92157724_92158024del	coding	Pathogenic
7	92536832	CT	C	T92536844A	RBM48	NM_032120.4(RBM48):c.1018-7del	noncoding	Benign
7	92615316	TATACA	T	A92615322T	CDK6	NM_001145306.2(CDK6):c.835-35_835-31del	noncoding	Benign
7	93102086	C	CTACT	A93102091T	SAMD9	NM_017654.4(SAMD9):c.4008_4011dup:p.Ala1338fs	coding	Pathogenic
7	93311237	TAAC	T	C93311240A	VPS50	NM_017667.4(VPS50):c.1823_1825del:p.Thr608del	coding	Pathogenic
7	93434389	G	GAAAA	G93434403A	CALCR	NM_001742.4(CALCR):c.1150-108_1150-105dup	noncoding	Benign
7	93434389	G	GAA	G93434403A	CALCR	NM_001742.4(CALCR):c.1150-108_1150-107dup	noncoding	Benign
7	93434389	G	GA	G93434403A	CALCR	NM_001742.4(CALCR):c.1150-108dup	noncoding	Benign
7	93434594	GA	G	A93434605C	CALCR	NM_001742.4(CALCR):c.1150-301del	noncoding	Benign
7	93434594	G	GAA	C93434606A	CALCR	NM_001742.4(CALCR):c.1150-311_1150-310dup	noncoding	Benign
7	93435824	TAATA	T	T93435847C	CALCR	NM_001742.4(CALCR):c.1149+104TATT[5]	noncoding	Benign
7	93435828	A	AT	A93435829T	CALCR	NM_001742.4(CALCR):c.1149+123_1149+124insA	noncoding	Benign
7	93436356	ATGT	A	G93436358C	CALCR	NM_001742.4(CALCR):c.931-189_931-187del	noncoding	Benign
7	93438022	TA	T	A93438024T	CALCR	NM_001742.4(CALCR):c.930+37del	noncoding	Benign
7	93468823	T	TAAACAAACAAAC	T93468838A	CALCR	NM_001742.4(CALCR):c.430-29GTTT[6]	noncoding	Benign
7	93468823	T	TAAACAAAC	T93468838A	CALCR	NM_001742.4(CALCR):c.430-29GTTT[5]	noncoding	Benign
7	93472768	AC	A	C93472770A	CALCR	NM_001742.4(CALCR):c.317-282del	noncoding	Benign
7	93479751	T	TAC	T93479758A	CALCR	NM_001742.4(CALCR):c.52-250GT[4]	noncoding	Benign
7	93487079	A	AT	C93487086T	CALCR	NM_001742.4(CALCR):c.-26-78dup	noncoding	Benign
7	94394423	GC	G	C94394428T	COL1A2	Single_allele	noncoding	Benign
7	94397731	C	CTT	C94397742T	COL1A2	NM_000089.4(COL1A2):c.71-8_71-7dup	noncoding	Benign
7	94397769	CTT	C	T94397775A	COL1A2	NM_000089.4(COL1A2):c.81+17_81+18del	noncoding	Benign
7	94398636	GA	G	A94398645G	COL1A2	NM_000089.4(COL1A2):c.96+249del	noncoding	Benign
7	94401544	AT	A	T94401556A	COL1A2	NM_000089.4(COL1A2):c.226-11del	noncoding	Benign
7	94401569	CT	C	T94401572G	COL1A2	NM_000089.4(COL1A2):c.231del:p.Phe77fs	coding	Pathogenic
7	94404602	TA	T	A94404604G	COL1A2	NM_000089.4(COL1A2):c.324+4del	noncoding	Pathogenic
7	94404893	GTAAGTATTTAC	G	A94404895C	COL1A2	NM_000089.4(COL1A2):c.432+3_432+13del	coding	Pathogenic
7	94405664	CTTTCTAAGGGTGCTCGTGG	C	T94405669C	COL1A2	NM_000089.4(COL1A2):c.487-4_501del	noncoding	Pathogenic
7	94409816	CTTG	C	T94409821A	COL1A2	NM_000089.4(COL1A2):c.1035_1035+2del	coding	Pathogenic
7	94411033	GT	G	T94411049G	COL1A2	NM_000089.4(COL1A2):c.1252-7del	noncoding	Benign
7	94416448	CT	C	T94416449G	COL1A2	NM_000089.4(COL1A2):c.1809del:p.Gly604fs	coding	Pathogenic
7	94416470	T	TC	T94416473C	COL1A2	NM_000089.4(COL1A2):c.1832dup:p.Ser612fs	coding	Pathogenic
7	94416481	CCCCAGGG	C	C94416484T	COL1A2	NM_000089.4(COL1A2):c.1844_1850del:p.Pro615fs	coding	Pathogenic
7	94418591	AT	A	T94418601A	COL1A2	NM_000089.4(COL1A2):c.2025+49del	noncoding	Benign
7	94418882	TAAATAAATAAGTCTCCTATGCTTTAGGAAGCCGGGACCTCTAACAAGATTCTATAGTTATTCAAACCTACTCCCTAGAAATTTATCACCCAAAGAGCAGCCCCAAAGATTAGCTGTTAATGCCATGAAGATGCCAAAGATAATCCCATGACAGTCTAATTACCTTATCTCGTATGTCAGCCTCATGGGTCTTCTAGGCCACAGTCGGCCTGGATTCCTTTATTCACCTCTCCTTCAGAGCTGAAAACTGACTGTAGCACATCTGTAATAGTCTTTCTTTTGAATCACGTAGTTCTAACAGTTTCAAACAAGGCTACTCATTTGCTGCTCTCCAGGGAATTTTACAATAGCGGAAAGTTCAGATCTCCCAAATTTCTGACCTGCTATTGACTTACACATTTCCATAACCTTTATTACTGGAGTACCCTCCTTCTGAGAGTGGCTTCTAATAGTCTTGTTAATTAGAACCAAAATACATCAGAGGCCTTCTAGATATCCAACCAGAGTGCAGTGAAAGTGTTCAGTCACTGTATAAGCACAGAAAAAAAGAATGACAAGGTTCACTTTTGATGATACGGGGTGTTATTAATAAGACATGTTTCCTTTTTGGTACTAGGGTGCTCCTGGTGCTGTAGGTGCCCCTGGTCCTGCTGGAGCCACAGGTGACCGGGTAAGCATGCATTTTCACTAAGCCAACAGCAATATCTAAAATTTCCCGCCTTCCCTAGTCCCAAAGAGCCCCAGCAATTCATTTTTATGGCTTGGTATAAAGCCTACTTATTTAAAAACCTAGCTATTGTGATAGAGCAGCAGGAAACAAATGCTGTGTGTTTAAAATTACTTTTCCCTTCCTATAGATTTGCCAGCTATCTGATCTATACTCTAATCCCTAGCATTTGTTTTAAAGTCTCTCCATGTTGCGCATTAACAATATCCTAATGCACTGAGGCTTCTCAAAGCCTTCAATTATTACCAAAAAATCAATAAAATACATAGTGTGCCCATTTCACATTGAACTCTCCACTTAAAATAGATCTTATTTATTGTATTGCAAAGATTGCCACAAATAGATCAGCCCCGTGTCCATCTAAAAATTAAAATGTCCTCCTCCTGGTATTGTAGGCACTGATTTATAGTGTTTTCTCAAGTGTATAACCCATACTACTTAACCCCCAAAATGAATATAGCATTAAGTAAAAATCCACTTCATTTTACTCTGTGAGATGTGCGTCAGTTATCTCTTCCAAGGCAACTACAGACTCTGTCTGTCCACCACTGTTCTCTCTCCCTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATCTTTGGTCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGTAAGTAAGAACCTGGGTCATTTTGTATACTCACACCTCACAATGTTTAGACATTGATGAACCTAGGATTGATAACACATTTTTAAATCCCTTCTCCCACCTAGGGTGAACGTGGTGAGGTCGGTCCTGCTGGCCCCAATGGATTTGCTGGTCCTGCTGTGAGTATCACATAATGAAGATTAATCTGAAAACATCCTAAGTTGGGGAGTAGAGTGGGTCGGAATACCAGAGCTGTAACTGTTTATTTCCAACAGGGTGCTGCTGGTCAACCTGGTGCTAAAGGAGAAAGAGGAGCCAAAGGGCCTAAGGGTGAAAACGGTGTTGTTGGTCCCACAGGCCCCGTTGGAGCTGCTGGCCCAGCTGTAAGTTGAATTCACTGGTGGTCCACACAGCAGCTACCCATTAGATCTTCCAATTAAATATATATCCGTCAAGTGCCTGCTATGCAACAGGGAATATACCAGATAGAAGATGGAAAATAACGGAAGGATTAACATTTGCACACTGCTTTACAAAGTATAAAAGTTTCATGAATATTGTTTTATTTTAATTCTCTGATAACCTCATAAGGGTGGTAATATTGAAGAACATTCTGACACAGATAGTCATTTTTTATTTCTATATTTTCTTCTAAGAGATGCGGGAATGATCCACTTGAAGAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAGGACACTTGAAAGTTTTGAAATTTTTGGTAAATTTGGACTACCATGAGGAAACTTTTGAGATTCAAGTTCATTCTATTCAGAGCAATTCCGATATTGATGTTAACTTGAACTCAGCTGGAACTCAGTGTATGTTGCTATCAGCTCACTTGAGGTAATAACCAAGGTGGGCCCTAGGCAGTTTAATTGTAAAGTCGGAAAAAATATTCCTTTTGGCGTTTATTAATATGCCCCTTCTTCTGCCTGACCATGTCCTTCTCCTTTGCAGGCAATGCTATCACAACAATTCTCTAGAGACCCAGAGCTCCCCAAAAATGAACTTTACTGACTTCTTCTCTCACTGGACAGTGCTGAATTATCTAGGTCATTTGTTATTCTTTTGTCCATGAACACCATTACCTATTAAGTGTCCATTTCCTTACCACTCAGCCAGGTGGTAAAGATAGTTATTAATGTATACACATTAATGTGTAATAATGACATAGTGTCTTATCTTCATACCTTTACAACCATAAGATAATATGTCAGCATTTCAGAAAGGACCATCCAAACCTTAACGCAAAATATGGGCATTGCAACTGGTAATATGCTGGTAAGGAAGATGTGTGGAGAAGGAGGGCCTTCAGGGTCCTGGCTAAATAATGCCCTATATGAAGCTGCCTACCTCCTACTCCTTGGTCTATTCCTGGTCACATGTACTGATTTTCCAAAACAAAGAAATTCCCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGCTTCTGATAGGAAACTGGTAAGAAACTCTTCATGAAAACACATCACTAATATTCGCTATTACTCTCCTGGTCTGAAGTCAGCTTTTCTGAACCATTAAGGTATTTCATCACAAGTTATATTTTATAATATCAGTTTAAGAGGCTTTTATTCATGTGAACACCAGTCCCCTTTCAGGGGCATGGTCTTTTTGAAAAAAAAAAAACAAAAAAACGAACAGTTTTAGCCACATATCAGATATTTCTATATCTAATTATCCTTTATGGCTAACATTCTGCCTCCATTGTTAAGGTATAATTGTTCCTGAATTTAAAGGTGGTTTGGCCTCTAATTTAATTCTGATTCAGACTCTCCTGTCAGGACTCAAGAAAATTTAATTAATTACCAAGGATTAAGTCTTCTGGTTAAGGTTTCTGGGAAAAAAAAATAGCAAAGATGTTGATTTCTTGGAATCCTTTTACAGGTTCATAACAGAAAAATCTTCATTCCCTGTAGGCATTTAATTAAACCTAGTTGAGAAGTGTGTGGGATTCCTCAATTATGAACAAAACACGTATATTGGCTTTCTTTAAAAAAAAAAAAAAAGAAGAAAAAAGAAAAGGCAAAGTCCTTCGAAACTCAGAGTCCCATTCATTTATCATTAACTCCTATCATTCTACATAGTTCTGATTCCAATATGCCAGGGTACCAGTGGCATGACATTGTTTTTCCTCATAGAAATTTGCCATAGTCTCTCCTCCATTATTTGGTTGGTTACAGCCTCATAAAGGAAGACAGGAGTTGCTTCTTTCTGCAAGAAAGAAGGTTAAAAACTATAAATATTTCCCCCAAATGGCCAGGGTATTATTTTATTGCATCACATTGTTTGCATCTTAAGATCTAGAATCTTTGCTGCTCTCTTCCAGGCCCTTGGTGATTAACAGAAAGGAAATGACCTTGTACATTTGCTCATAGGGTATTTCTGGCCCTCCTGGTCCCCCTGGTCCTGCTGGGAAAGAAGGGCTTCGTGGTCCTCGTGGTGACCAAGGTCCAGTTGGCCGAACTGGAGAAGTAGGTGCAGTTGGTCCCCCTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATACCTTATGCTGAATTAAAATAAAGCCCCTACACAAATCTTCAAGTGGCATCTATTTGTTGATGAGTATTGCAGGCTCTCAAGTAGAGCTCAGTTGAGCCAGGAAATCTGTCCAGCACACACTGAGGGGCTGTGGCTTCCAAGATGCTCAG	T	T94418886G	COL1A2	NM_000089.4(COL1A2):c.2025+334_2565+183del	noncoding	Pathogenic
7	94419315	TGA	T	A94419319T	COL1A2	NM_000089.4(COL1A2):c.2026-179_2026-178del	noncoding	Benign
7	94419464	TTA	T	A94419466T	COL1A2	NM_000089.4(COL1A2):c.2026-32_2026-31del	noncoding	Benign
7	94420292	TAA	AAC	T94420292A	COL1A2	NM_000089.4(COL1A2):c.2133+6_2133+8delinsAAC	noncoding	Pathogenic
7	94421772	CCTACCTCCTACTCCTTGGTCTATTCCTGGTCACATGTA	C	A94421775G	COL1A2	NM_000089.4(COL1A2):c.2350-124_2350-87del	noncoding	Benign
7	94422195	GAA	G	A94422206C	COL1A2	NM_000089.4(COL1A2):c.2403+254_2403+255del	noncoding	Benign
7	94422195	GA	G	A94422207C	COL1A2	NM_000089.4(COL1A2):c.2403+255del	noncoding	Benign
7	94426011	CT	C	T94426012G	COL1A2	NM_000089.4(COL1A2):c.2958del:p.Val987fs	coding	Pathogenic
7	94426939	GAA	G	A94426952T	COL1A2	NM_000089.4(COL1A2):c.3106-56_3106-55del	noncoding	Benign
7	94427634	CT	C	T94427635G	COL1A2	NM_000089.4(COL1A2):c.3276del:p.Gly1093fs	coding	Pathogenic
7	94428889	GA	G	A94428891T	COL1A2	NM_000089.4(COL1A2):c.3712-297del	noncoding	Benign
7	94429098	C	CT	C94429108T	COL1A2	NM_000089.4(COL1A2):c.3712-81dup	noncoding	Benign
7	94429108	C	CT	C94429123T	COL1A2	NM_000089.4(COL1A2):c.3712-66dup	noncoding	Benign
7	94429108	C	CTT	C94429123T	COL1A2	NM_000089.4(COL1A2):c.3712-67_3712-66dup	noncoding	Benign
7	94429545	GAACT	G	A94429550T	COL1A2	NM_000089.4(COL1A2):c.3954+120_3954+123del	noncoding	Benign
7	94588689	C	CT	G94588691T	SGCE	NM_003919.3(SGCE):c.1296dup:p.Gly433fs	coding	Pathogenic
7	94600671	TA	T	A94600672T	SGCE	NM_003919.3(SGCE):c.1011del:p.Ala336_Tyr337insTer	coding	Pathogenic
7	94600736	TC	T	C94600738G	SGCE	NM_003919.3(SGCE):c.946del:p.Asp316fs	coding	Pathogenic
7	94600774	G	GGGTTT	T94600781G	SGCE	NM_003919.3(SGCE):c.904_908dup:p.Pro304fs	coding	Pathogenic
7	94600817	A	ATCACTTCCTGC	A94600828C	SGCE	NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA:p.Ile289delinsSerArgLysTer	coding	Pathogenic
7	94602739	GTTAACATGCAAATTAAAATGTGATTTGGAAAGAAATATTATGTTTATGAATTATGGGTAAGATTCTAACTTTCTTCACTTGGAATTGTCTCTTGTTTCTTGGACTTTCCCTATAATTTGAGTTGTCAGAACATTAAATCATAGCACAATACTGCTTTATTTTCAGATTTATTATTGTACTCCATCCTTTCCTTCCAAAGTGGGTTAGTGGCAGAATATTTAAGAAGAATCTTTCTGCACATATCATACTAACTCCACTATCTGTGCTCATTAGCAGCTATATGGATGCCCAAGGGGTTCATTTGGACCACCTGCCAAGCTAATCCAGCCCCAGCAATTAATCAAGGATAGAATAAGTACAAAAGTGGATATATTCTTTCCTAAACGGATGCACTGTCAACGAGCTTACCAGATCCTTAATCTCAAGGGAAGTCAACTGCAGTTAAAGTAAACCTAGGATTTATTCCTAAAAGCAGTTCAGGTTTTAGTCAAACGTTAACTCCAGCCACATTATTTTTAACTAAACTTGCAAAAACAAAATAAAAACTTACCAATGAAATTTTGCACCAGTCAATGTAAAATTGAGTACGAAATTTTTTATCACATGTTATTACAGGCTCCATTTCTTGACTACATCTCAATTGATTCTGTGGATTTTCAACTTCTCGTAAACAAGAAGAAAACGGGACATCTGCACCAACCATGACATAAACGCTGTAAAAATGTGAAACTCTCAGGTTATCCTTTAAGAAAATTGAAAACACTAAAAAACAATCCACCTTAAAAGCAGGATTTAGCCTTTTGAATTGAGAGATTAACTAGACTCATCCCTGAGGTAGGGGCCTCGGCTCTAAAAACAATGATTCATGTAGGGGCTTCCTTTCATTCATTCCTTTATTCAACCAATATTTACTGAGTGCTTTGGTATACCAGATACTCTCTCCATTCTATGTTAATTTCTAAAAACTTTATTTCATCCCATTTATTTTCATTCAATATAAACATGCATCATATTCTGATTACTATATTTAGTAATTACTATATTTAGTAGATATTTACATTAAAACATTATCCTTAAGGTAAATTAGGAAATAACCCCACTACTACAATAATAAATAACTAAGTAATACATTTCACTTAATTTTCTTGTAATAAAACTTTTAAATTACATCCCTGGAGGTATGGAGCTTTGGGTAGACATTACTATTTTACCTATCAGTTCTGTTAGTTTTTCTACTACACAAACCCCTATATGCTTGGTCTCTCATTAGAAGGCCTTGCAATCTTTTATCTAAGACATTAATATAAGGGTAAAACTATTGTTTGGTAAACACAAAGAGGCAAACAAAATATTTTGTTGGTTTGGGGGAATTATGGGGAAAGATCTCTACTTAACTGGCTAAAAAGATTTCACAACAGGAAATAGTGACAACAGTATTTAAATAATCTTGGAGCAGCTTGAGAAGATAGGAATCTCATTGGCCTTTCAAAAGAAAAGAGAAAACCAGGAAAATACTACAAGTAAATACTGTTCCTTTTCATAATGACAATGCTAGGAAAAAAATGACAATGTAAAATGAAGTAAAACCATCAAAATTCTAGCTGCCTTCTTTGCAGAAGTTGACTAACTGATCCTAAAATTCCTAAGGAAGTTCATAGCACCCAGAATAGCCATACACACACACACACACACACAAATTTGGATAAGGAAAAACAAATTTGGAAAACTCACAATTCCCAATTTGAAAACTTACTCAGAGCTACAGTAAGCAAGTCATCTGGTACGGGCATAGGAACAGACAGACAGATCAATGGAATAGAACTGAGAATCCAGAAATAAACTCTCACATTTAATAAACTGATTATCATCACAGGTACCAAGACAATTCAAAAAGGAAAGAATAGTTGTTATAACTAATGGTGCTGGAAAAACTGGATATCCACATATCCTGTCCTACCTAAGAAGGCAAATGAGAAGCATATGTGAAATTTATGGTCTTGAGGCATAGGCTCACTAAAAGATTGAAAACTAATCATAGAATTATTTTTTATAACTAATGGTGCTGGAATATATATATATATATATATATATATATATATATATATATATATATATATATAATAGTTGTTATAACTAATGGTGCTGGAAAAACTGGATATCCACATATCCCGTCCTACCTAAGAAGGCAAATGAGAAGCATATGTGAAATTCATGGTCCTGAGGCATAGGTTCACTAAAAGATTGAAAACTAATCATAGAATTACAGAATTCTTCCCCTCCCACAACACCTGACCACCATATTACTAAAGATCTACTTATATTCATTCTTTTTACTCCATACATTAGTCCAGCTAGCAAGAAAAAAATTATAAAACATACTATACAGCAAAAAGCACAGTTTGAAAAGACTGAACAAGCATCACACCGGAATCAGATATGGCAGAGATGTTGAAATTATCAGACCAGAAATTTAAAACAACTATGACTAATATGCAGAGGGCTCTAATGAATAAAGTGAAACTACTTTGCAAGAAATGTTAAAATAACTTCTTTTGAGAGATGGAAAATGATATAAGTCAGAAACTCAGATCTACATAAAGAAAAGTAGAGCATCAGAGAAGGAATAAGTGAAGATAAAACCTTTTATTTTTCTTAATTGATCTAACAGATAACTTGTTTAAAATAATAGCAACAATCTATTCACCATATATCCATAAATGTATATATCTACATATATGTTTATATACACTTATAGATAAGCAAAATAAATGACAGCAATGATACAAGAGAGATGAGGGAAAGACAGGGATTATTTTATCATAAGATACCTGCAATACCTAGGAAGTAGTGTAGTGTTATTTGAAAGTGAATTTGGATTGGTTATATATGTATATTACAAACTCTAAGACAATCAGTAAAAGACAGTTTAAAAAATACAACTGATGTGTTAAAAGAGGAGAGAAAACAATCATAAAAAATGCTCAATGAAAACTATAAAAAGTGGGAAAAGAGTGGAAGACAAAAATAGAAACAAAAAACAAAGGCAACAAACAGAAAACAGTAACAAATATAGTAGATTTATATTTTATTTTATTTTATTTTTATTTTATTTTTGAGACACAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTCGGTAGAGATGGGTTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCATGGCTGGCCTCAATAATCACTTTAAACATCAATGGTCTAAATACCCCATTGAAAAGACAGAGACTGTCAGAGTGGATTGAAAAACAAGATCCAACTATACTCTTTATAAAAAATATCTACTTTAAATAGGAAGACACATATACATTAAAAGTAAATGGGTGGAGAAAGATATACTATGCTAACAATAACTAAAAAGCAGGAGGAGCTATATTAATTTCAGACAGAGCCAACCTCACAGCAAGGAAACTTATCAGAGACAAAGAAAGGCATTACATAATGATAAAGAGGTCAATTCTTTAAGAACATAAATCACTCCTTAATGTGTATATGCCTCATAACAGTGCATCAAATTACATGAGGCAAGAGCTGATAGAAGTGCAAAGAGAAATAGATGAATCCACTATTATAGCTGGACATTTCAACATCTCTCTATCAGAAATGGACACAACCAGCAGGCAGAAAATTGGTAAAGACATAGTGAAACTCAGTATCATCATCAGTCGACAGGTTTTAATAGACACTTAGAGACTACTTCATCCAAAAATAGAATACACATTCTTCTTAAGTACACATGAAACATTTAGCAACATTCCAGACCATAAAAAATTAACAAATTTAAAGGAATGGAAATCATACACTGTCTGTTCTCAGACCCCGGTAGAATTAAACTGGAACTCAGTATCAAAAGATAACTGAAAAATCCCAAACTACTAGGAAACTAAGCAACAGACTTCAAAAATTGCACATGGATTAAAGGAGAAATCTTGGATGAAACTTGAAAATATTCTGAATTAAATAAAAATGAAACCATAACTTATCAAAATGTTTACAATTTGGCAAAAGCAATACTTAGAAGGAAATTCATAGCATTGAATGCATACATTAGAAAAGAAGAGAGATCTAAAATCAATAATTGAAACCTCCCCCTCAGGAAACTAGAAAAAGAAGAACAAATGAAATCCAAAGTAAGCAGAAGAAAAAAAAAATCAGATAATCTGCACAGGCCTATATGTAGTAAGGAAATTGAATCAATAATTAATAATCTTCTAAAGCAGAAAGCATCAGGTCCAGATGGGTTCACTGTTGAATTCTACTAGACATTTAAGGGAGAAATTATGCCAACTCTCTACAATATTTCTCAGAAGACAAAAGCCAAAAGAATACTTCCTATCTCATTCTATGAAACCCAAATTACCTTAATACCAAAACCAGAAAACAACATTACATGAAAAGAAACTACACACCACACCAGCATCTCTCATAAACACAGGTGCAAAAATCCTCAACAAAATATTAGCAAATCAGATTCAACAATGTATAAAAGGAATTATACACAATGATCAACTGGGACTTTCCCCAGTTATGCAAGGCTAGTTCAACATCCAAAAATCAGTTAATATCACATCAACAGGCTAAAGAAGAAAAATCACATGACAGCATCATCAGATGCAGGAAATGCATTTGACAAAATCCAATGGCAATTTGTGAAAAAAAAAATTCTTAGTAAACTAGGAATAGAGGGGAATTTCCTCAATTTGATACCTACAGCTAACATTACTCTAAATGAGAAACTTGAAGTTTTCCTACTAGTATCAGGAAAAAGTTAAGAATGTTGCCTCTCATCACTGTTTTTTAACATCATACTGGAAGTCCTAACTAATGTAATAAAAGACAAAAAGAAAATAAAAAGTATACAGATTTGAAAGGATTAAATACTGTCTTTCTTTGCAGATGATATGATTCAAAAGAATTGATTAAAAACTCCTAAAACTAGTGAGTGATTACAGCAACGTTGCAGGAATCAGTAATAACCTTCCAAAACAGAAAGCATCAAAATACATGAGGCAAGAGCTGATAGAGCTGATACTAAGATTAATATAATAAAGTCCATCACTTTCCTATATACCAGCATGAACAGGTAGAACTTGAAATTAAAAACAGAGGCCGGGTGTGATGGCTCACACCTGTAATCCCAGCAGTTTTGCAGGCCGAGGCAGGTGGGTCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACATGACAAAACCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACGCCTGTAGTCCCAGCTTCTCAGGAGGCTGAGCCAGGGGTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTACCCTCCAAAATAAAATACTTAAATATAAATATAAGTCTAATAAAATAGGTACAAGATCTGTATGAGGAAGACTACAAAACTGATGAAAGAAATCAAAGAAGACCTAAATAAATGGAGAGATATTCCATGTTTAATGGATAGGAAGACTAAATATTGTCCATATGCCAGTTCTTCCCAAATTAATTATAGATTCAATGTAATCTCAATCATATTCTCAGCAAGTTAATTTGCAGATATTAACAAACTTATTCTAAAGTTTATATGGAGAAACAGAAGACCCAGAATAGCCAAAACAATATTGAAGGAGAAGAACAAATTTTGAGGACTGACACTACCCAACATCAAGATTTACTATAAAGCTACAGCAATCAAGACAGTGTAGTATTGGGAAATAATTGACAAAATAGATCAATGAAACAGAATACACATTTAGAAATAGACCCACATAAATCTATTCAACTAATCTGTGGCAAAGGAGCAAAGGCAATACAATGGAGGAAAGACAGTCTTTTGAACAAATGGTGTTGAAAAAACTAGACTTATACATGTAAAAAATGAATCTAGATACATATGCCCTTCACAAAAATTAACTCAAAATGCATCACAGGTCTACATGCAAAATGCAAAACTATGAAACTTCTAGAAGATAATAGAGGAGAAAATCGAGATGACCTTGGATTTGATGATGATTTTTTAGTTACAACACCAAAGGCACAATCCATGAAAGAAAGAATTGACAAGATGGACTTAATTAAAATTAAAAATTTCTCTTCTGCAAAAGACACTGCCAGTAGTACAAAAAGCCACAGACTACAAGGAAATATTTGCAAAATGCATATCTGATAAAGGACTGTTATCCAAAATATACAAAAAACACTTAAAACATAAAACAACAAACAATCCAATTAAAAATGGGCCAGAGGCCAGATGCAGTGGCTCAAGCCTGTAATCTCAGCACTTTTGGAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTCGCCAAAATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTATCTGTGTAAGATGGCATGCTTCTATAGTCCCAGCTACTTGACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACACAGTAAGACTCTGTCTAAAAAACAACAACAACAAAAAGCCAGAGACC	G	T94602746G	SGCE	NM_003919.3(SGCE):c.663-6109_825+550del	noncoding	Pathogenic
7	94603287	TAC	T	A94603288C	SGCE	NM_003919.3(SGCE):c.825+1_825+2del	noncoding	Pathogenic
7	94603302	GCA	G	A94603304C	CASD1;SGCE	NM_003919.3(SGCE):c.811_812del:p.Cys271fs	coding	Pathogenic
7	94603312	A	AT	G94603314T	SGCE	NM_003919.3(SGCE):c.802dup:p.Ile268fs	coding	Pathogenic
7	94603390	G	GGA	T94603393G	SGCE	NM_003919.3(SGCE):c.723_724dup:p.Pro242fs	coding	Pathogenic
7	94603407	TAAAC	T	A94603410G	SGCE	NM_003919.3(SGCE):c.704_707del:p.Cys235fs	coding	Pathogenic
7	94618761	TC	T	C94618763T	SGCE	NM_003919.3(SGCE):c.658del:p.Glu220fs	coding	Pathogenic
7	94618769	GTCATTAATGGGAAGTGGCACCCTGCCAC	G	T94618770C	SGCE	NM_003919.3(SGCE):c.623_650del:p.Gly208fs	coding	Pathogenic
7	94618815	G	GT	G94618817T	SGCE	NM_003919.3(SGCE):c.604dup:p.Thr202fs	coding	Pathogenic
7	94618839	TC	T	C94618840T	SGCE	NM_003919.3(SGCE):c.580del:p.Glu194fs	coding	Pathogenic
7	94618847	CCA	C	C94618852T	SGCE	NM_003919.3(SGCE):c.571_572del:p.Trp191fs	coding	Pathogenic
7	94618898	CA	C	A94618899T	SGCE	NM_003919.3(SGCE):c.521del:p.Met174fs	coding	Pathogenic
7	94618921	TAATG	T	T94618924G	SGCE	NM_003919.3(SGCE):c.495_498del:p.Phe165fs	coding	Pathogenic
7	94618936	CT	C	T94618938G	SGCE	NM_003919.3(SGCE):c.483del:p.Ala162fs	coding	Pathogenic
7	94623335	CATTAT	C	T94623340A	SGCE	NM_003919.3(SGCE):c.448_452del:p.Ile150fs	coding	Pathogenic
7	94623382	TGTTGTAGGCAGTTATCTATTATAAAAGGAAAACCATATTAAAGAAGTGAAATGTTCTTTGTAAAATGAAATTCATTAAGGATTAAAATGAAAACAAA	T	G94623383T	SGCE	NM_003919.3(SGCE):c.391-82_405del	coding	Pathogenic
7	94628137	T	TACACAC	T94628165C	SGCE	NM_003919.3(SGCE):c.390+39GT[16]	noncoding	Benign
7	94628137	T	TAC	T94628165C	SGCE	NM_003919.3(SGCE):c.390+39GT[14]	noncoding	Benign
7	94628270	GT	G	T94628271G	SGCE	NM_003919.3(SGCE):c.321del:p.Pro108fs	coding	Pathogenic
7	94629753	A	ATATTCTC	T94629762A	SGCE	NM_003919.3(SGCE):c.191_197dup:p.Tyr66Ter	coding	Pathogenic
7	94629756	TTC	T	C94629760T	SGCE	NM_003919.3(SGCE):c.193_194del:p.Glu65fs	coding	Pathogenic
7	94629816	GTGTAC	G	T94629817C	SGCE	NM_003919.3(SGCE):c.130_134del:p.Val44fs	coding	Pathogenic
7	94655777	G	GAAA	G94655785A	SGCE	NM_003919.3(SGCE):c.109+206_109+208dup	noncoding	Benign
7	94656061	C	CT	A94656062T	SGCE	NM_003919.3(SGCE):c.37_38insA:p.Cys13Ter	coding	Pathogenic
7	94656254	AC	A	C94656259A	SGCE	Single_allele	noncoding	Benign
7	95299242	AAC	A	A95299247C	PON1	NM_000446.7(PON1):c.910-146GT[2]	noncoding	Benign
7	95301923	T	TAA	T95301939A	PON1	NM_000446.7(PON1):c.909+267_909+268dup	noncoding	Benign
7	95301923	T	TA	T95301939A	PON1	NM_000446.7(PON1):c.909+267dup	noncoding	Benign
7	95302632	G	GA	G95302643A	PON1	NM_000446.7(PON1):c.781-309dup	noncoding	Benign
7	95308384	T	TAA	G95308386A	PON1	NM_000446.7(PON1):c.498-174_498-173insTT	noncoding	Benign
7	95308475	C	CGT	A95308512G	PON1	NM_000446.7(PON1):c.498-300AC[19]	noncoding	Benign
7	95308475	CGT	C	G95308510A	PON1	NM_000446.7(PON1):c.498-300AC[17]	noncoding	Benign
7	95308475	CGTGT	C	G95308508A	PON1	NM_000446.7(PON1):c.498-300AC[16]	noncoding	Benign
7	95308475	CGTGTGT	C	G95308506A	PON1	NM_000446.7(PON1):c.498-300AC[15]	noncoding	Benign
7	95308475	CGTGTGTGT	C	G95308504A	PON1	NM_000446.7(PON1):c.498-300AC[14]	noncoding	Benign
7	95311166	TG	T	G95311168T	PON1	NM_000446.7(PON1):c.497+284del	noncoding	Benign
7	95318085	CT	C	T95318099G	PON1	NM_000446.7(PON1):c.145+237del	noncoding	Benign
7	95359943	C	CT	A95359961T	PON3	NM_000940.3(PON3):c.*29dup	noncoding	Benign
7	95394877	TG	T	G95394878T	PON3	NM_000940.3(PON3):c.75-164del	noncoding	Benign
7	95424815	TA	T	A95424826G	PON2	NM_000305.3(PON2):c.75-231del	noncoding	Benign
7	95810675	TG	T	G95810677A	DYNC1I1	NM_001135556.2(DYNC1I1):c.223+171del	noncoding	Benign
7	95810694	A	AG	T95810696G	DYNC1I1	NM_001135556.2(DYNC1I1):c.223+189dup	noncoding	Benign
7	95813093	C	CT	C95813108T	DYNC1I1	NM_001135556.2(DYNC1I1):c.224-140dup	noncoding	Benign
7	95813378	T	TAA	C95813394A	DYNC1I1	NM_001135556.2(DYNC1I1):c.314+55_314+56dup	noncoding	Benign
7	95813378	T	TA	C95813394A	DYNC1I1	NM_001135556.2(DYNC1I1):c.314+56dup	noncoding	Benign
7	96121749	T	TAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA	A96121767G	SLC25A13	NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC	noncoding	Pathogenic
7	96121927	A	AGCCC	G96121933C	SLC25A13	NM_014251.3(SLC25A13):c.1658_1661dup:p.Gln556fs	coding	Pathogenic
7	96121951	C	CGTCTT	A96121958T	SLC25A13	NM_014251.3(SLC25A13):c.1633_1637dup:p.Leu548fs	coding	Pathogenic
7	96121976	AC	A	C96121977T	SLC25A13	NM_014251.3(SLC25A13):c.1612del:p.Leu537_Val538insTer	coding	Pathogenic
7	96121978	TA	T	A96121981G	SLC25A13	NM_014251.3(SLC25A13):c.1610del:p.Ser536_Leu537insTer	coding	Pathogenic
7	96121979	A	AAAGATGC	T96121987A	SLC25A13	NM_014251.3(SLC25A13):c.1603_1609dup:p.Leu537fs	coding	Pathogenic
7	96131844	GAGAA	G	A96131847G	SLC25A13	NM_014251.3(SLC25A13):c.1486_1489del:p.Phe496fs	coding	Pathogenic
7	96146536	TA	T	A96146550G	SLC25A13	NM_014251.3(SLC25A13):c.1452+19del	noncoding	Benign
7	96146588	CGACA	C	C96146595G	SLC25A13	NM_014251.3(SLC25A13):c.1416_1419del:p.Val473fs	coding	Pathogenic
7	96171473	G	GT	A96171475T	SLC25A13	NM_014251.3(SLC25A13):c.1228dup:p.Thr410fs	coding	Pathogenic
7	96184280	T	TA	T96184282A	SLC25A13	NM_014251.3(SLC25A13):c.1173dup:p.Arg392Ter	coding	Pathogenic
7	96184358	CA	C	A96184362G	SLC25A13	NM_014251.3(SLC25A13):c.1095del:p.Phe365fs	coding	Pathogenic
7	96189636	TA	T	A96189638C	SLC25A13	NM_014251.3(SLC25A13):c.792del:p.Thr265fs	coding	Pathogenic
7	96193043	T	TAGAC	T96193049G	SLC25A13	NM_014251.3(SLC25A13):c.605_608dup:p.Val204fs	coding	Pathogenic
7	96193123	T	TC	A96193127C	SLC25A13	NM_014251.3(SLC25A13):c.528dup:p.Arg177fs	coding	Pathogenic
7	96208875	CTT	C	T96208879C	SLC25A13	NM_014251.3(SLC25A13):c.429_430del:p.Arg144fs	coding	Pathogenic
7	96208885	CT	C	T96208889C	SLC25A13	NM_014251.3(SLC25A13):c.420del:p.Glu141fs	coding	Pathogenic
7	96208980	G	GA	G96208985A	SLC25A13	NM_014251.3(SLC25A13):c.329-4dup	noncoding	Benign
7	96234853	TA	T	A96234856C	SLC25A13	NM_014251.3(SLC25A13):c.276del:p.Phe92fs	coding	Pathogenic
7	96234926	T	TA	C96234931A	SLC25A13	NM_014251.3(SLC25A13):c.213-10dup	noncoding	Benign
7	96277233	CCA	C	C96277236G	SLC25A13	NM_014251.3(SLC25A13):c.173_174del:p.Val58fs	coding	Pathogenic
7	96277283	GT	G	T96277284G	SLC25A13	NM_014251.3(SLC25A13):c.124del:p.Thr42fs	coding	Pathogenic
7	96277296	TG	T	G96277301A	SLC25A13	NM_014251.3(SLC25A13):c.111del:p.Asn38fs	coding	Pathogenic
7	96277344	TA	T	A96277352G	SLC25A13	NM_014251.3(SLC25A13):c.70-7del	noncoding	Benign
7	96277344	T	TA	G96277353A	SLC25A13	NM_014251.3(SLC25A13):c.70-14dup	noncoding	Benign
7	96296900	T	TG	C96296901G	SLC25A13	NM_014251.3(SLC25A13):c.66_67insC:p.Lys23fs	coding	Pathogenic
7	97006051	GGCA	G	G97006073A	DLX6	NM_005222.4(DLX6):c.75GCA[7]:p.Gln44del	coding	Benign
7	97006108	A	AGCC	A97006138C	DLX6	NM_005222.4(DLX6):c.134CGC[10]:p.Pro53dup	coding	Benign
7	97006108	AGCC	A	C97006135A	DLX6	NM_005222.4(DLX6):c.134CGC[8]:p.Pro53del	coding	Benign
7	97010193	C	CCTCT	C97010209T	DLX6	NM_005222.4(DLX6):c.*148TC[9]	noncoding	Benign
7	97020572	A	AG	T97020580G	DLX5	NM_005221.6(DLX5):c.*163dup	noncoding	Benign
7	97022287	GC	G	C97022288T	DLX5	NM_005221.6(DLX5):c.437del:p.Ser146fs	coding	Pathogenic
7	97852410	GT	G	T97852414A	ASNS	NM_001673.5(ASNS):c.1534del:p.Thr512fs	coding	Pathogenic
7	97853161	G	GT	A97853163T	ASNS	NM_001673.5(ASNS):c.1374dup:p.Pro459fs	coding	Pathogenic
7	97853330	AGAGACAAGTAATAG	A	G97853333A	ASNS	NM_001673.5(ASNS):c.1281_1294del:p.Tyr428fs	coding	Pathogenic
7	97853396	G	GA	G97853401A	ASNS	NM_001673.5(ASNS):c.1239-11dup	noncoding	Benign
7	97854625	T	TA	G97854627A	ASNS	NM_001673.5(ASNS):c.1192dup:p.Tyr398fs	coding	Pathogenic/Likely_pathogenic
7	97854975	C	CT	A97854994T	ASNS	NM_001673.5(ASNS):c.1138-313dup	noncoding	Benign
7	97854975	CT	C	T97854993A	ASNS	NM_001673.5(ASNS):c.1138-296del	noncoding	Benign
7	97858834	G	GT	A97858842T	ASNS	NM_001673.5(ASNS):c.775+13dup	noncoding	Benign
7	97858834	G	GTT	A97858842T	ASNS	NM_001673.5(ASNS):c.775+18_775+19dup	noncoding	Benign/Likely_benign
7	97858834	GT	G	T97858841A	ASNS	NM_001673.5(ASNS):c.775+19del	noncoding	Benign
7	97858875	TTCTG	T	T97858882A	ASNS	NM_001673.5(ASNS):c.750_753del:p.Asp250fs	coding	Pathogenic/Likely_pathogenic
7	97858911	TA	T	A97858916G	ASNS	NM_001673.5(ASNS):c.717del:p.Phe239fs	coding	Pathogenic
7	97858922	CT	C	T97858923G	ASNS	NM_001673.5(ASNS):c.706del:p.Arg236fs	coding	Pathogenic
7	97858935	TCA	T	C97858938G	ASNS	NM_001673.5(ASNS):c.692_693del:p.Val231fs	coding	Pathogenic
7	97858940	G	GT	C97858944T	ASNS	NM_001673.5(ASNS):c.688dup:p.Thr230fs	coding	Pathogenic
7	97859331	AT	A	T97859332A	ASNS	NM_001673.5(ASNS):c.554del:p.Tyr185fs	coding	Pathogenic
7	97859333	A	AG	T97859335G	ASNS	NM_001673.5(ASNS):c.552dup:p.Tyr185fs	coding	Pathogenic
7	97859345	GA	G	A97859349G	ASNS	NM_001673.5(ASNS):c.540del:p.Leu181fs	coding	Pathogenic/Likely_pathogenic
7	97859387	A	AT	G97859389T	ASNS	NM_001673.5(ASNS):c.498dup:p.Leu167fs	coding	Pathogenic
7	97864410	T	TG	T97864411G	ASNS	NM_001673.5(ASNS):c.335_336insC:p.Gln112fs	coding	Pathogenic
7	98897676	G	GTT	G98897681T	TRRAP	NM_001375524.1(TRRAP):c.508-62_508-61dup	noncoding	Benign
7	98906084	TG	T	G98906086C	TRRAP	NM_001375524.1(TRRAP):c.1037-91del	noncoding	Benign
7	98906396	TTTTTGTTTTA	T	T98906400A	TRRAP	NM_001375524.1(TRRAP):c.1115+145_1115+154del	noncoding	Benign
7	98912387	CT	C	T98912400A	TRRAP	NM_001375524.1(TRRAP):c.2199+187del	noncoding	Benign
7	98937323	CAT	C	A98937324G	TRRAP	NM_001375524.1(TRRAP):c.4233+47_4233+48del	noncoding	Benign
7	98951059	C	CTGTG	T98951095G	TRRAP	NM_001375524.1(TRRAP):c.5463+56TG[19]	noncoding	Benign
7	98951059	C	CTGTGTG	T98951095G	TRRAP	NM_001375524.1(TRRAP):c.5463+56TG[20]	noncoding	Benign
7	98951059	C	CTGTGTGTG	T98951095G	TRRAP	NM_001375524.1(TRRAP):c.5463+56TG[21]	noncoding	Benign
7	98951059	C	CTGTGTGTGTG	T98951095G	TRRAP	NM_001375524.1(TRRAP):c.5463+56TG[22]	noncoding	Benign
7	98951059	CTG	C	G98951093T	TRRAP	NM_001375524.1(TRRAP):c.5463+56TG[16]	noncoding	Benign
7	98953031	TTGTGTG	T	G98953075T	TRRAP	NM_001375524.1(TRRAP):c.5464-135TG[21]	noncoding	Benign
7	98953031	TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T	G98953049T	TRRAP	NM_001375524.1(TRRAP):c.5464-135TG[8]	noncoding	Benign
7	98956116	T	TC	G98956119C	TRRAP	NM_001375524.1(TRRAP):c.5938-28dup	noncoding	Benign
7	98958309	G	GT	G98958321T	TRRAP	NM_001375524.1(TRRAP):c.6342+229dup	noncoding	Benign
7	99192998	GAGAA	G	G99193004A	KPNA7	NM_001145715.3(KPNA7):c.636+17_636+20del	noncoding	Benign
7	99369752	TTATCCTCTCCCCTCCTGCTGTCAGTTGGGATGGATCCCTTGATCCCAGGGAAAGTGACCCACATTCTGGGGTGGACCAGTGGGACAAAGGGGAGATTATACTGGATACTGGGAGCTCTTAGAAAAGGTCCCTGCCACCGCCCCCCCTCCATCTCCCATCTCCCTGGTCTGCCTTGGCCCACCCACTGCTTGTCTGCAGTCAACCTAGCTGCCATTTTGTGACCAGGAGGCAATAAAACTGGTGCTTGAAGCTGGGAGGCAGAGGTTGTAGTGAGCCGAGATTGTGCCACTGCACTCCAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAATAGCGACAGGCAAGGGGCAGAAAGCCAGCAAGAACCTGGGAGACTGCACCAGCCCTGGCCTGCCTCCCCCACGTCGGCCAGCCCTGGAGAGTCACAGCCTGGGTTTGTGGCTGCATTTCTTGGAAACATGAGAAGGCAATAAAGGAAGCAGGAGTGTGTAGCATCTTCGTCCCAGGGCCCTGCACAAAGCCAATTCTAGGAAGAAACAGAAAGCTCTCCAAGTTGTTCTGGGAGCTCCAGATGAAATCCTTCCATCACCAAGTTCCCTAACCCAAAGTGTTTCTCCACGTACGGCTTAGAAAACTTTCTCCCCCAAAGGAGCCATTTCAAATAATGCCTTCCATTGCTTTCCAATCTGAGGTCTGCTTTCTCCCATCCACTGGGTCTTCCCTCCACGACTGAAGGCCTGTGGGACGGGTGGGCAGGTGGACAGTGCTTGTCAGCTTCACTTTACAGATGTGGAAACTAAGGCACGGTTACACTACAGGTTAAGTGGCAGCACCAGAACTGGACCCACTTTCTTTCTTATTTTTCCTTTTTTGAGATGAAGTCTCGCTCCATCACCCAGGCTGGAATGTAGCCTGGTTACAGTGATCTCGACTCACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGGAGGTGGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCTAAACTGCTGGGATTACAAGCGTGAGCCACTGCGCCCAACCTTTTTTTGGGGGGGATGGAGTCTTGCTCTGTTATCGGCTCACTGCAACCTCCACCACCCTCATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAACTAATTTTTGTATTTTTGTTTTGTTTTGTTTTGTTTTGTTCTTCGAGACGGTCTCACTCTGTCACCCAGACTGGAGGGCAATGGCGTGGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACTATGTTGGCCTGACCTCGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGGCTTTTTTTTTTTTTATTAGAAATGGGTTTTCACCATGTTAGTCAGGCTGGTCTCACCCTCCTGACCTTTTGTGATCAGCCTGCCTCCGCTTCCCATAGTGCTGGGATTACAGGCGTGAGCCACCATACCCGGCCTGGACTCAGTTTTCTACCACTGGATCATTCATTAACACATCTGTTAAGATGTGTGTTGAGTGACTCAGGCACCGGGCTCTGTCATGGGCCCAGGGGAGAGAAGAGGGAACAGTACAGCCATGGCTGCGGCTCGCATAGGCTTTTAGAGCCTTTACATCAACTCAGGTGACCTTAGTTTACATTTTCGCAGATAGGAAAAAGGAGTCTTGAGGTATGCATATTTGTTAGGATGCTTTGATGATTCGCAGCAGAAAAACTCAAAGCAGCCTAAAAATAAAGTGGAGGCTGCACACCGTGGCTCACGTCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTTCTTGAGGCAAGGAGTTCGAGACCAGCCTGGGTCACACAGGGAGAGCCCTGTCCATACAAAAATTTTAAAAATTAGCTGGGTGTAGTGGCGCATGCCTGTGGTCCCTCCCAGCTACGAGAGAGGCTGAGGTGGGAGAATCACTTGAGGCCAGGAGTTTGATACCAACCTGCACAACATAGCAAAAACACTATCCTTATAAAAATTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAATCTCCGCCTCCTGGGTTCAAGTGATTTTCCTGCCTTAGCCTCTGGAGTAGCTGAGATTACAGGCGCGCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAACGATCCGCCTGCCTTGGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACCGCACCCAGCCTATAAAAATTTTAAAAATTAGCCAGGTGTGATGGTGCACACCTGTAGTCCCAAGTGCTCGAGAAGCTAAGGCGGGAGGATCACTTGAGCCCAGGAGCTGGAGGCTTCAGTGAGCTGTGATTGCGTCACTACATTCCAGCCTGGGTAAAAGAGGGAGACCCTGTCTCTAAAACATATTAATTAATTAAGCGGATAACTTGGCTCACATATCTGAATCTTTGGAGGCAGGTTGGGCTCAGACCTTCCAGTCAGAGGTGACCAGAGCTCCGGTTACTTCTCTGACCTTCTCTCGGCTCTGCACTCTCCCTGCAGCTTCCCTTGTTGCTGTTCCACTTCCGCGTTCCACTTACGAGTCCAGATTCCTGCAGCTCGCTCAGAAGGGGCTTTGTGCGCTGGATCATCAGCTGAAGTCCTGGGCTTTGCTTTGATTGGGTCATCTTAGGTCACAAGTGCAGCAGGACAGGGAACACCGTGAGCTGATTTAGACCACTCAGGGCCACTTGGGGTCATTCCCTGGGCATCTACAAAGCGGCAGAAGAGTAGGATGGAAGCCAGGGAAGCAGCAACAGGGTCACCTCAGTTACCCTACACTTGTCCCTGTGGGAAGAGGGCTGCCGGTACAGACCCCTTGAAGCTTTGTATCTGCTTGAACTAAAACCACCGCCTGTGTTTGCTGAGGTTGCCGACATCTGTCTGAGAAAATACGCAGGAGCAGCAAGGTTGGGGGGGCTCAGAAAAGTTCGAGCACTTCCTGTGTGCACACTGTATGACCCGATTCACACACCTGGACACATTTAATCCTCCCAACTACCCTAGGGGGTCGAATTCAGTGGAAAAGAGAGCGGCGGCTAAGGGCACCTCCAATGGGGAGGGTGTCGGGGCAAAGCGACCTGAGACCCCCAGCCACATACTGCAGGACAAACCAATGTCGGCAGGTGAGGACAGGGTGGGAATAGTGTTCCAGGCAGAAGGAACAGCGAGTGTCAAAGCCTCTAAGCCTGACAGGGTGGGAGTCTGGCCTCGGATCTCCAGAGATCCAGGAAGACCCTGCACAAATACTAGAGAGAGGGGTCTGAAGGAGAGAAGAGGAGGGAAGGTTTTTGTTGTTGTTTGAGAGGAAGTCTCGCTCTGTTGCCAGGCTGGCGTGCAGGGGCCCCATCTTGGCTCACTGCAGCCTCTGCCCCCGGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGCAGCGCTCCATCACGCCATGGGGCTCCTTGCAGCTAATTTTTTTTTTTTTTGAAACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGTAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTAGATTCAAGCGATTCTTCTACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTTGTATTGTTTAGTAGAGACGAGGTTTCACCGTGATAGCCAGGATGGTCTCGATCTGAGCTCGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGACCGGCCGAGGTAAGGTTTTCACTGGGGTCTCTTCCATCTGCCTGGCCGCCAGGCCACGTATCCACTGAAGAGGCAGAGGGTCAGGATGGGAAGACTCCGGGGACCACCTAGCCCAAGACCCGCAATCAGGCGGCTCTGCAAGGCTAACCGGGTAACTTAAAGAAGTGAAGCCGATTGACGTAAAACAGAAAGGAAAGAAGTTAACTGGCCGGCCAGCGTCAGCAGGGGCGGCCAGTGTCACCCTGCCCGGGGACAGCACCCCTGTTTCGTGGCGAGGACACGGAGGGCCAAGGGGGCGGGGCCGGGCTGCCCTGGCCACGCCCGGACCGCCTGCTCCCCGCCCAGGGCCTGCACAGTTGGCGCCCACCGGCATCAGCGTGAAGGGAGCTCCTCGCTGGCTGCCGACGGGGCTGCAGGGCTCGCTAGCCGCTCACCTGCGTGTGAGCGCGGAGCCCGCAGTACCCGCCGTCCGGGCTCAGAGGACGTGACTCCCCGACCCTGCGCCCGGCAGTCCCCGGGGGCCGTGCGCCCGGCCCAGGCTCGGAGGTCCAGCCCAGCGGCGGCTCAGGCTGCGCGCCTGGCTCCCAGCCTCAGTTTCCCCATTGGTAAAGCATTGACGGTGGTTGCGGACGGCTTCTGCGGACAGAGCCTTGGGCTCCGACGTCTGCGCGGGTACCGGCAGCACCCCCACCCCGAAGGGAGGGCGGGACCTGGATCTCGCGACCGCTGCCCCAGGTCCCCGCCCCCGGGCCCTACCGGGCTGAGGTCGGCAGGCCCCGCCCCCCGCCCACGAGGAAGTGGCTGCTGCTCCGGCGCGGAGCCCAGAGCCGGTTCGGCGCGTCGACTGCCCAGAGTCCGCGGCCGGGGCGCGGGAGGTGAGGGCCGTGGGGGCGCCCGGAGGTGGGGGTCAGGGGAGCCACCTGGAGGTGGGGGGGCGCGTAGATGTGGGGCGCCGCCTGGGAGTGAGCGGGACTGGAGGGATGAGAGGGGGTGCAAGGAGGGGACCGGGGGGCGCCTGGAAGTGAGGACGCATAGATGTGGGGCGCCGCCCAATAGGGGCACGGGGATGAGTGGGGGCACATGGAGAGGAGGGGGCGCGGGGACGAGGGGCTCACGGAAAGGAGAGGGAGCCCTGGGATTGGAGGGGGCGCGGGGGTGGCCGCAGGGCCAGACTGTGGAAACGCGGGCTCCCAGCGCACCGGGCGCCCTCGGGGCGTCCCCAGCCCCCGGCCCCAAGCTTCCGCCTCGTGCCTTCCGCCCCTGCTCCCCGGCCCCCATCCCCAGCCTTGCCCCGCGGTCGGTCGGTGTAGCCCCGTTACTTCGGGCCGGCGGGGCCCCACACCCAGTCACTTCCCCTCCATCCCCGGAGCCTTCCGGGTTGCAGCCGCCGGGAAATGAGCTGGCGTCTCCTGCCGCCCCGCCCCTGCCCTCCTGGCCGCTCCCGCTGCTCCCACCCGCCTCCCCCGGGCCAGGTCCGAGGGGTCCCGTACGGGGCGGGCCTGGCTGGCGGGGTCCCGGAACGCACCCCCTCAGCTGCAGGGCTCCGCGGCCAGGGCAGATCCGAGCAGCCCCTCCCTTTCCGGAGGCGCTGGGAGAGCAGCCAGGCCGCCTAGGGCGGGGCGGGGCCGGGCTGCACCCGCGGGCAGTGAAGGGATCAGGAGTGCAAGCCTGGGGAGTCAGACCTCCCCCTGCCTCCTCTGCCAATGCAGCCCGGAGGCTACCACCACCCATCCCGGCCGGGCGCGGTGGCTCACACATAGAATCCTAGCATTTTGAGAGGCCCAGGCGGGAGGATCGCTTGAGGCCAGGAGTTGGAGGCCAGCATGGACAGCATTGCGAGACCCTTTCTCTATTAAAATAAATAAATAAAATGTAGCCAGGCGCTGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGTCGAGGTGGACGGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGACCGACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTACCCAGGCATGGTGGCACGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGCCACGTAACATGCCTGTAATCCCAGCTACTTAGGAGGATGAGGCAAGAGAATTGCTTGAACCTGCCTTGGCAGTGAGCCAAGACTGTACCACTGCACTGCAGCCTTGGCAACAGAGCCAGACTCCGTCTCTAAATAAATAAATAAAATCTTAGGGACCTAGGTAGGAGTGCCAGCTTCTCCCTTCACTGGCCAGTGACTGGTAAGCCACCCAACTCCTGCCAGCCTCAACTTTCCTTATCTGGAAAATGGGAACCTTAAAGACTGGGAGGCTGAAATGCAATACTGCAAGACACCTGGCAGCGTGTCAGGCGCTGACAGTATAAACGTGCGTTTGTTGCTCACCTTGATCATAGTGTTCCCCCAGGTGAACCTAACTTCCTGGCCTCCAAGATTTGGGGTCAGAGTCCCAAGCTGCGTCATTTAGTAGAAGCCGAGTGACTTTGAACAAATCGTTGCTTTTGTCTGAGCCTGGGTTTCCTCCTGTACAAACTGAAGGTAAAAAGCAAACAGGCTGGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGTGAAACCCCGTCACTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTAGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATCATGCCGTTGCACTCCAGCCTGGGGTTACAAAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAAAGCAAACAAAAAATGTCTCAGGCTTGCTTCAGGGGGAGAATGGTGAAAGGTCTGGGTAAAATCGCCCTGATAGATGCCGGTAAAGTTTGTTTCTTACATATGTCTGTACATAATCCATTGATAGGTCTTTTTCTTTTTTTCTGGAGTCCGGGTCTCATTGTGTTGCCCAGGCTATAGTGCCATGGCTTGATCATAACTCACTTTAGCCCCAAACTCCTGGGCTCAAGGGATCCTCCTGAGTAGCTGGGATTACAGGTATGTTCCTCCATGCCCAGCTAATTTTTAAATGTTTAGTAGAGGTAGGGTTTTGCTGTGTTGTCCAGGCTGGCCTCAAACTCCTGGCCTTAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCTCCACGCCTGCCTTATACGTGCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGTGTCTTGTTCTGTTGCCCAGGCTGGAGTGTGGTGACACTACCTTGACTCACTGCAGCATCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCTCAGGTAGCTGGGATTACAGGTACATGCCAATATGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCAGGTGATCCGCCCACCTCGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCAGCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTATTTGGAGGTGGCGGAGTTTCACTCTGTCGCCCAGGCTGCAGTGCAGTGGCACAATCTCAGCTAACTGCAACCTCTTCCTCTCGAGTTCAAGTGATTCTCTTGCCTCGACCCCCCGAGCAGCTGGGATTACAAGTGCCCACCACCAAGCCCAGATAAATTTTGTATTTTTAGTAGAGAGGGTTTTACCATGTTGGGCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCCGCCTCCCAAAGTCTGGGATTACAGGTGTGAGCCACCGCACCCGTCGGTTGATAGGTCTTTTCTAATATTAATAATTACGTAGCATCTCAACATGTTAATGTCATAATTTACTCTTTCCATATTGTCACCTGGGTTTTTCCACACTGTCACCATTATAAAGACAGCTATTATAAACATGTTTGCTTTATTTTTTAGATGAGGTTTCACTCTGTCACCCAGGCTGGAGTACAGTGACGAGATCTCGGCTCACTGCAACCTCCACCTTCCCAGCTCAAGGAATCCTCCAGCCTCAGCCCCTCAGATAGCCAGGACTACAGGCGTACAGCATCACATCCCGCTAATTTTTTTTTTTTTTTTGGTAGTTTTTATAGACACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCCGAACTCCTGGACTCAAGTGATCCACCTGGCTTGGCCTCCCAAAATGGTGGGATTACAGGCGTGAGCCATGGCACCCCACCTGTTTGCTTTTAAAAAAGAAAAATGGGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCATCTCTACTAAAAACAAAAACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTTCCACCTACTGGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGAATGCACCACTACACTCCAGCCTGGGCGACAGAATGAGACTACATCTCAAAAATAAAAAAGAAAAAGAAAGAAAAATGTGTTGCTGTTTTCTTAGGACCAAATGGGTGTATGTGACCAAAGAATGTTAATTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCCTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTC	T	A99369754T	ARPC1B	NC_000007.14:g.99369754_99378887del	noncoding	Pathogenic
7	99390001	CT	C	T99390003C	ARPC1B	NM_005720.4(ARPC1B):c.491del:p.Phe164fs	coding	Pathogenic
7	99392785	GAGCGCTTCCAGAACCTGGACAAGAAGGCGAGCTCCGAGGGTGGCAC	G	A99392786G	ARPC1B	NM_005720.4(ARPC1B):c.899_944del:p.Glu300fs	coding	Pathogenic
7	100101765	CAA	C	A100101767G	AP4M1	NM_004722.4(AP4M1):c.53_54del:p.Lys18fs	coding	Pathogenic
7	100102430	T	TC	G100102431C	AP4M1	NM_004722.4(AP4M1):c.148-245_148-244insC	noncoding	Benign
7	100102715	GCC	G	C100102716T	AP4M1	NM_004722.4(AP4M1):c.189_190del:p.Tyr65fs	coding	Pathogenic
7	100102753	CCCTT	C	C100102755A	AP4M1	NM_004722.4(AP4M1):c.228_231del:p.Phe77fs	coding	Pathogenic
7	100102950	A	ATGAAGTGC	G100102961A	AP4M1	NM_004722.4(AP4M1):c.344_351dup:p.Asp118fs	coding	Pathogenic
7	100103886	G	GAA	C100103887A	AP4M1	NM_004722.4(AP4M1):c.543+194_543+195insAA	noncoding	Benign
7	100103886	G	GA	C100103887A	AP4M1	NM_004722.4(AP4M1):c.543+194_543+195insA	noncoding	Benign
7	100104102	ATG	A	T100104103A	AP4M1	NM_004722.4(AP4M1):c.555_556del:p.Asn185fs	coding	Pathogenic
7	100105285	CTG	C	T100105288A	AP4M1	NM_004722.4(AP4M1):c.776_777del:p.Val259fs	coding	Pathogenic
7	100105784	GAA	G	A100105796G	AP4M1	NM_004722.4(AP4M1):c.930-163_930-162del	noncoding	Benign
7	100105784	GA	G	A100105797G	AP4M1	NM_004722.4(AP4M1):c.930-162del	noncoding	Benign
7	100106277	TC	T	C100106278G	AP4M1	NM_004722.4(AP4M1):c.1012del:p.Arg338fs	coding	Pathogenic
7	100110979	CA	C	A100110995G	TAF6	NM_139315.3(TAF6):c.1083+159del	noncoding	Benign
7	100110979	C	CA	G100110996A	TAF6	NM_139315.3(TAF6):c.1083+144dup	noncoding	Benign
7	100112961	A	AG	A100112963G	TAF6	NM_139315.3(TAF6):c.455-45dup	noncoding	Benign
7	100113838	AC	A	C100113848G	TAF6	NM_139315.3(TAF6):c.243+29del	noncoding	Benign
7	100113844	C	CA	C100113845A	TAF6	NM_139315.3(TAF6):c.243+23_243+24insT	noncoding	Benign
7	100114245	GC	G	C100114250G	TAF6	NM_139315.3(TAF6):c.-37del	coding	Benign
7	100181901	C	CAA	G100181920A	STAG3	NM_001282717.2(STAG3):c.117-172_117-171dup	noncoding	Benign
7	100182792	G	GC	A100182795C	STAG3	NM_001282717.2(STAG3):c.291dup:p.Asn98fs	coding	Pathogenic
7	100198298	GAGGGGGTAAT	G	G100198300T	STAG3	NM_001282717.2(STAG3):c.1244+134_1244+143del	noncoding	Benign
7	100200065	CA	C	A100200082G	STAG3	NM_001282717.2(STAG3):c.1678-154del	noncoding	Benign
7	100200840	T	TG	C100200845G	STAG3	NM_001282717.2(STAG3):c.1936dup:p.Ala646fs	coding	Pathogenic
7	100211151	GAAGA	G	A100211153G	STAG3	NM_001282717.2(STAG3):c.3381_3384del:p.Glu1128fs	coding	Pathogenic
7	100435357	GGTCTACGCTTCC	CG	G100435357C	PPP1R35	NM_145030.4(PPP1R35):c.753_*3delinsCG:p.Trp251fs	noncoding	Pathogenic
7	100621026	T	TC	A100621029C	TFR2	NM_003227.4(TFR2):c.2236dup:p.Asp746fs	coding	Pathogenic
7	100621034	GGC	G	G100621037C	TFR2	NM_003227.4(TFR2):c.2227_2228del:p.Ala743fs	coding	Pathogenic
7	100626802	GTC	G	T100626809C	TFR2	NM_003227.4(TFR2):c.2095_2096del:p.Asp699fs	coding	Pathogenic
7	100627013	C	CTG	G100627014T	TFR2	NM_003227.4(TFR2):c.1996-111_1996-110insCA	noncoding	Benign
7	100627786	TAG	T	A100627791T	TFR2	NM_003227.4(TFR2):c.1638_1639del:p.Leu546_Tyr547insTer	coding	Pathogenic
7	100631001	G	GCC	T100631004C	TFR2	NM_003227.4(TFR2):c.1156_1157dup:p.Ser387fs	coding	Pathogenic
7	100631002	C	CT	C100631003T	TFR2	NM_003227.4(TFR2):c.1156_1157insA:p.Gly386fs	coding	Pathogenic
7	100631305	CTT	C	T100631329A	TFR2	NM_003227.4(TFR2):c.1107-255_1107-254del	noncoding	Benign
7	100633104	TG	T	G100633107C	TFR2	NM_003227.4(TFR2):c.745del:p.His249fs	coding	Pathogenic
7	100633545	AG	A	G100633547C	TFR2	NM_003227.4(TFR2):c.484del:p.Leu162fs	coding	Pathogenic
7	100640752	TAG	T	A100640755T	TFR2	NM_003227.4(TFR2):c.405_406del:p.Tyr136fs	coding	Pathogenic
7	100640840	AC	A	C100640843T	TFR2	NM_003227.4(TFR2):c.318del:p.Ser107fs	coding	Pathogenic
7	100641198	CG	C	G100641200T	TFR2	NM_003227.4(TFR2):c.63del:p.Val22fs	coding	Pathogenic
7	100641475	AC	A	C100641477G	TFR2	NM_003227.4(TFR2):c.33+1del	noncoding	Pathogenic
7	100650039	CG	C	G100650041T	ACTL6B	NM_016188.5(ACTL6B):c.465del:p.Ala156fs	coding	Pathogenic
7	100682691	G	GC	A100682697C	GIGYF1	NM_001375765.1(GIGYF1):c.2498dup:p.Gly834fs	coding	Pathogenic
7	100722057	CT	C	T100722072C	EPO	NM_000799.4(EPO):c.246+24del	noncoding	Benign
7	100722521	TCACTCAC	T	C100722522T	EPO	NM_000799.4(EPO):c.247-142_247-136del	noncoding	Benign
7	100803321	GTC	G	T100803326C	EPHB4	NM_004444.5(EPHB4):c.*134GA[2]	noncoding	Benign
7	100805573	T	TG	A100805579G	EPHB4	NM_004444.5(EPHB4):c.2605dup:p.Gln869fs	coding	Pathogenic
7	100806506	CG	C	G100806508A	EPHB4	NM_004444.5(EPHB4):c.2397del:p.Ala800fs	coding	Pathogenic
7	100812900	CTCCGT	C	T100812901G	EPHB4	NM_004444.5(EPHB4):c.1960_1964del:p.Thr654fs	coding	Pathogenic
7	100817082	CAAAAAA	C	A100817099G	EPHB4	NM_004444.5(EPHB4):c.1588+104_1588+109del	noncoding	Benign
7	100817082	CAAA	C	A100817102G	EPHB4	NM_004444.5(EPHB4):c.1588+107_1588+109del	noncoding	Benign
7	100817082	CAA	C	A100817103G	EPHB4	NM_004444.5(EPHB4):c.1588+108_1588+109del	noncoding	Benign
7	100817082	C	CAA	G100817105A	EPHB4	NM_004444.5(EPHB4):c.1588+88_1588+89dup	noncoding	Benign
7	100817082	C	CA	G100817105A	EPHB4	NM_004444.5(EPHB4):c.1588+88dup	noncoding	Benign
7	100819617	A	ATGCCCCGTGGCTAAGGAGGC	A100819619G	EPHB4	NM_004444.5(EPHB4):c.1236_1237insGCCTCCTTAGCCACGGGGCA:p.Ser413fs	coding	Pathogenic
7	100819814	A	AG	C100819821G	EPHB4	NM_004444.5(EPHB4):c.1039dup:p.Leu347fs	coding	Pathogenic
7	100820158	C	CG	T100820164G	EPHB4	NM_004444.5(EPHB4):c.946dup:p.Arg316fs	coding	Pathogenic
7	100820465	C	CAA	T100820483A	EPHB4	NM_004444.5(EPHB4):c.809-186_809-185dup	noncoding	Benign
7	100820465	C	CA	T100820483A	EPHB4	NM_004444.5(EPHB4):c.809-186dup	noncoding	Benign
7	100822385	CA	C	A100822386G	EPHB4	NM_004444.5(EPHB4):c.693del:p.Gly232fs	coding	Pathogenic
7	100822472	TCA	T	C100822475G	EPHB4	NM_004444.5(EPHB4):c.605_606del:p.Val202fs	coding	Pathogenic
7	100823818	TGG	T	G100823820A	EPHB4	NM_004444.5(EPHB4):c.235_236del:p.Pro79fs	coding	Pathogenic
7	100826955	G	GC	G100826965C	EPHB4	NM_004444.5(EPHB4):c.52+23dup	noncoding	Benign
7	101132065	CTA	C	T101132068G	SERPINE1	NM_000602.5(SERPINE1):c.699_700del:p.Tyr233_Thr234insTer	coding	Pathogenic
7	101154157	T	TC	A101154159C	AP1S1	Single_allele	noncoding	Benign
7	101206761	A	AGT	A101206767T	PLOD3	NM_001084.5(PLOD3):c.2061+14AC[3]	noncoding	Benign
7	101210451	T	TG	T101210456G	PLOD3	NM_001084.5(PLOD3):c.1501-8dup	noncoding	Benign
7	102280022	T	TC	T102280026C	CUX1	NM_001913.5(CUX1):c.1681-12dup	noncoding	Benign
7	103376685	CAGA	C	G103376690C	SLC26A5	NM_198999.3(SLC26A5):c.2041+120_2041+122del	noncoding	Benign
7	103379483	C	CA	G103379499A	SLC26A5	NM_198999.3(SLC26A5):c.1585-163dup	noncoding	Benign
7	103397716	CA	C	A103397732G	SLC26A5	NM_198999.3(SLC26A5):c.971+215del	noncoding	Benign
7	103397716	C	CAAA	G103397733A	SLC26A5	NM_198999.3(SLC26A5):c.971+200_971+202dup	noncoding	Benign
7	103397716	C	CA	G103397733A	SLC26A5	NM_198999.3(SLC26A5):c.971+200dup	noncoding	Benign
7	103397751	TTA	T	A103397753G	SLC26A5	NM_198999.3(SLC26A5):c.971+179_971+180del	noncoding	Benign
7	103397953	AC	A	C103397954A	SLC26A5	NM_198999.3(SLC26A5):c.949del:p.Val317fs	coding	Pathogenic
7	103407632	CAG	C	A103407635T	SLC26A5	NM_198999.3(SLC26A5):c.888+217_888+218del	noncoding	Benign
7	103478276	AT	A	T103478291A	RELN	NM_005045.4(RELN):c.10286+112del	noncoding	Benign
7	103486042	CAT	C	A103486047G	RELN	NM_005045.4(RELN):c.9983+149AT[2]	noncoding	Benign
7	103496170	GGTAACCTAGCACCGAAA	G	G103496171A	RELN	NM_005045.4(RELN):c.9194-289_9194-273del	noncoding	Benign
7	103498280	TAAAA	T	A103498284C	RELN	NM_005045.4(RELN):c.8668-32_8668-29del	noncoding	Benign/Likely_benign
7	103498498	A	AT	G103498510T	RELN	NM_005045.4(RELN):c.8668-257dup	noncoding	Benign
7	103498498	AT	A	T103498509G	RELN	NM_005045.4(RELN):c.8668-247del	noncoding	Benign
7	103515504	A	AAAG	T103515509A	RELN	NM_005045.4(RELN):c.7863-66_7863-64dup	noncoding	Benign
7	103519586	A	AT	G103519601T	RELN	NM_005045.4(RELN):c.7669-84dup	noncoding	Benign
7	103519586	A	ATTTTTTT	G103519601T	RELN	NM_005045.4(RELN):c.7669-84_7669-78dup	noncoding	Benign
7	103523374	G	GA	C103523382A	RELN	NM_005045.4(RELN):c.7490+16dup	noncoding	Benign
7	103535725	ATAAAG	A	G103535730T	RELN	NM_005045.4(RELN):c.7181-246_7181-242del	noncoding	Benign
7	103539397	C	CGTTT	T103539418G	RELN	NM_005045.4(RELN):c.6931-90AAAC[6]	noncoding	Benign
7	103542963	A	ATACTCAT	T103542965A	RELN	NM_005045.4(RELN):c.6524-86_6524-85insAATGAGT	noncoding	Benign
7	103542968	GT	G	T103542969A	RELN	NM_005045.4(RELN):c.6524-91del	noncoding	Benign
7	103542970	AG	A	G103542971T	RELN	NM_005045.4(RELN):c.6524-93del	noncoding	Benign
7	103545172	AG	A	G103545174T	RELN	NM_005045.4(RELN):c.6474del:p.Cys2159fs	coding	Pathogenic
7	103545383	GAAC	G	C103545386T	RELN	NM_005045.4(RELN):c.6303-42_6303-40del	noncoding	Benign
7	103553444	A	ATT	G103553445T	RELN	NM_005045.4(RELN):c.6072+16_6072+17insAA	noncoding	Benign
7	103561959	CAA	C	A103561977C	RELN	NM_005045.4(RELN):c.5211-8_5211-7del	noncoding	Benign
7	103561959	CA	C	A103561978C	RELN	NM_005045.4(RELN):c.5211-7del	noncoding	Benign
7	103565568	TG	T	G103565569T	RELN	NM_005045.4(RELN):c.4937-18del	noncoding	Benign
7	103565977	A	AT	G103565985T	RELN	NM_005045.4(RELN):c.4936+240dup	noncoding	Benign
7	103566255	C	CT	A103566256T	RELN	NM_005045.4(RELN):c.4904_4905insA:p.Met1635fs	coding	Pathogenic
7	103566766	T	TA	G103566771A	RELN	NM_005045.4(RELN):c.4589-8dup	noncoding	Benign
7	103574152	TAG	T	G103574158T	RELN	NM_005045.4(RELN):c.4449_4450del:p.Tyr1484fs	coding	Pathogenic
7	103575660	GT	G	T103575665C	RELN	NM_005045.4(RELN):c.4190del:p.Asn1397fs	coding	Pathogenic
7	103590010	AAAC	A	C103590013T	RELN	NM_005045.4(RELN):c.3913-185_3913-183del	noncoding	Benign
7	103594011	AT	A	T103594020A	RELN	NM_005045.4(RELN):c.3712-130del	noncoding	Benign
7	103594538	C	CT	C103594550T	RELN	NM_005045.4(RELN):c.3540-57dup	noncoding	Benign
7	103611536	A	AT	G103611551T	RELN	NM_005045.4(RELN):c.2895+61dup	noncoding	Benign
7	103611536	A	ATT	G103611551T	RELN	NM_005045.4(RELN):c.2895+61_2895+62dup	noncoding	Benign
7	103629630	GT	G	T103629641A	RELN	NM_005045.4(RELN):c.2702+309del	noncoding	Benign
7	103629641	T	TA	T103629646A	RELN	NM_005045.4(RELN):c.2702+295dup	noncoding	Benign
7	103635525	CA	C	A103635526G	RELN	NM_005045.4(RELN):c.2364del:p.Asp789fs	coding	Pathogenic
7	103640620	G	GA	G103640626A	RELN	NM_005045.4(RELN):c.2003-12dup	noncoding	Benign
7	103650084	CT	C	T103650099C	RELN	NM_005045.4(RELN):c.2002+189del	noncoding	Benign
7	103650084	CTT	C	T103650098C	RELN	NM_005045.4(RELN):c.2002+188_2002+189del	noncoding	Benign
7	103727921	GAATT	G	A103727923T	RELN	NM_005045.4(RELN):c.753+186_753+189del	noncoding	Benign
7	103749186	G	GA	T103749197A	RELN	NM_005045.4(RELN):c.656+230dup	noncoding	Benign
7	103917146	AC	A	C103917148A	RELN	NM_005045.4(RELN):c.265del:p.Leu88_Val89insTer	coding	Pathogenic
7	103917201	GA	G	A103917211C	RELN	NM_005045.4(RELN):c.227-17del	noncoding	Benign
7	103917201	G	GA	C103917212A	RELN	NM_005045.4(RELN):c.227-26dup	noncoding	Benign/Likely_benign
7	105063465	TC	T	C105063467A	KMT2E	NM_182931.3(KMT2E):c.303del:p.Ser102fs	coding	Pathogenic
7	105091236	TATAGA	T	T105091238G	KMT2E	NM_182931.3(KMT2E):c.1646_1650del:p.Ile549fs	coding	Pathogenic
7	105101475	TGAAAA	T	A105101478G	KMT2E	NM_182931.3(KMT2E):c.1776_1780del:p.Lys593fs	coding	Pathogenic/Likely_pathogenic
7	105101479	AAG	A	G105101487A	KMT2E	NM_182931.3(KMT2E):c.1785_1786del:p.Arg597fs	coding	Pathogenic
7	105102045	G	GAT	G105102051T	KMT2E	NM_182931.3(KMT2E):c.2051_2052dup:p.Glu685Ter	coding	Pathogenic
7	105102158	TAATA	T	A105102162G	KMT2E	NM_182931.3(KMT2E):c.2164_2167del:p.Lys722fs	coding	Pathogenic
7	105106637	T	TC	T105106640C	KMT2E	NM_182931.3(KMT2E):c.2714dup:p.Met906fs	coding	Pathogenic
7	105107673	CAG	C	G105107675A	KMT2E	NM_182931.3(KMT2E):c.3218_3219del:p.Arg1073fs	coding	Pathogenic
7	105107697	GAACTCCAACTTGAGGGA	G	A105107698C	KMT2E	NM_182931.3(KMT2E):c.3241_3257del:p.Asn1081fs	coding	Pathogenic
7	105110484	A	AT	C105110486T	KMT2E	NM_182931.3(KMT2E):c.3853dup:p.Ser1285fs	coding	Pathogenic
7	105112579	A	AT	G105112586T	KMT2E	NM_182931.3(KMT2E):c.4829dup:p.Leu1610fs	coding	Pathogenic/Likely_pathogenic
7	105459242	TC	T	C105459243A	PUS7	NM_019042.5(PUS7):c.1774del:p.Asp592fs	coding	Pathogenic
7	105482394	A	AGT	T105482397G	PUS7	NM_019042.5(PUS7):c.965_966dup:p.Phe323fs	coding	Pathogenic
7	105482444	TA	T	A105482460G	PUS7	NM_019042.5(PUS7):c.921-5del	noncoding	Benign
7	105506146	A	AT	A105506152T	PUS7	NM_019042.5(PUS7):c.483+42dup	noncoding	Benign
7	105542387	CT	C	T105542393A	RINT1	NM_021930.6(RINT1):c.274-15del	noncoding	Benign
7	105550037	AT	A	T105550041C	RINT1	NM_021930.6(RINT1):c.997-14del	noncoding	Benign
7	105565266	G	GT	C105565273T	RINT1	NM_021930.6(RINT1):c.1887-5dup	coding	Benign
7	106886205	GA	G	A106886206G	PIK3CG	NM_001282426.2(PIK3CG):c.2944del:p.Arg982fs	coding	Pathogenic
7	107211159	G	GA	C107211162A	COG5	NM_006348.5(COG5):c.2234dup:p.Ser746fs	coding	Pathogenic
7	107211234	GA	G	A107211239C	COG5	NM_006348.5(COG5):c.2169-10del	noncoding	Benign
7	107230615	CT	C	T107230616G	COG5	NM_006348.5(COG5):c.2167del:p.Arg723fs	coding	Pathogenic
7	107230915	TA	T	A107230925C	COG5	NM_006348.5(COG5):c.2092-225del	noncoding	Benign
7	107236301	C	CT	A107236313T	COG5	NM_006348.5(COG5):c.2091+138dup	noncoding	Benign
7	107248454	AAGTG	A	G107248458A	COG5	NM_006348.5(COG5):c.1791_1794del:p.Thr598fs	coding	Pathogenic
7	107248501	T	TA	G107248514A	COG5	NM_006348.5(COG5):c.1750-3dup	noncoding	Benign
7	107248518	G	GA	G107248527A	COG5	NM_006348.5(COG5):c.1750-20dup	noncoding	Benign
7	107258169	AT	A	T107258171G	COG5	NM_006348.5(COG5):c.1686+103del	noncoding	Benign
7	107258425	TTC	T	T107258450A	COG5	NM_006348.5(COG5):c.1576-68GA[12]	noncoding	Benign
7	107258425	T	TTCTC	A107258452T	COG5	NM_006348.5(COG5):c.1576-68GA[15]	noncoding	Benign
7	107258450	T	TCTCA	A107258452T	COG5	NM_006348.5(COG5):c.1576-68_1576-67insGTGA	noncoding	Benign
7	107281405	G	GA	T107281410A	COG5	NM_006348.5(COG5):c.1476-7dup	noncoding	Benign
7	107324536	CA	C	A107324541T	COG5	NM_006348.5(COG5):c.1027-16del	noncoding	Benign
7	107372699	G	GTA	C107372703A	COG5	NM_006348.5(COG5):c.729_730dup:p.Thr244fs	coding	Pathogenic
7	107372937	C	CATTA	T107372938A	COG5	NM_006348.5(COG5):c.670-178_670-177insTAAT	noncoding	Benign
7	107412352	CGAT	C	T107412355C	COG5	NM_006348.5(COG5):c.669+147_669+149del	noncoding	Benign
7	107412712	CA	C	A107412724C	COG5	NM_006348.5(COG5):c.539-81del	noncoding	Benign
7	107527216	TA	T	A107527231C	COG5	NM_006348.5(COG5):c.538+20del	noncoding	Benign
7	107527216	T	TA	C107527232A	COG5	NM_006348.5(COG5):c.538+6dup	noncoding	Benign
7	107554351	C	CA	T107554357A	COG5	NM_006348.5(COG5):c.235-10dup	noncoding	Benign
7	107558126	GA	G	A107558132T	COG5	NM_006348.5(COG5):c.95-12del	noncoding	Benign
7	107563544	TGGG	T	G107563556T	COG5	NM_006348.5(COG5):c.94+256_94+258del	noncoding	Benign
7	107563544	TGG	T	G107563557T	COG5	NM_006348.5(COG5):c.94+257_94+258del	noncoding	Benign
7	107563544	TG	T	G107563558T	COG5	NM_006348.5(COG5):c.94+258del	noncoding	Benign
7	107563546	G	GC	G107563547C	COG5	NM_006348.5(COG5):c.94+256_94+257insG	noncoding	Benign
7	107563788	AC	A	C107563792G	COG5	NM_006348.5(COG5):c.94+14del	noncoding	Benign
7	107661695	CA	C	A107661696G	SLC26A4	NM_000441.2(SLC26A4):c.55del:p.Ser19fs	coding	Pathogenic/Likely_pathogenic
7	107672192	CT	C	T107672198C	SLC26A4	NM_000441.2(SLC26A4):c.365del:p.Phe122fs	coding	Pathogenic
7	107672219	TC	T	C107672220T	SLC26A4	NM_000441.2(SLC26A4):c.387del:p.Phe130fs	coding	Pathogenic
7	107672236	C	CAT	C107672241A	SLC26A4	NM_000441.2(SLC26A4):c.406_407dup:p.Val138fs	coding	Pathogenic
7	107672244	AGTTGGTAATTATAAGTATATT	A	G107672245T	SLC26A4	NM_000441.2(SLC26A4):c.412_415+17del	coding	Pathogenic
7	107674284	CA	C	A107674285G	SLC26A4	NM_000441.2(SLC26A4):c.537del:p.Ala180fs	coding	Pathogenic
7	107674313	GC	G	C107674315A	SLC26A4	NM_000441.2(SLC26A4):c.567del:p.Ser190fs	coding	Pathogenic
7	107674337	GGAATTATACAGGTAAT	G	T107674341C	SLC26A4	NM_000441.2(SLC26A4):c.593_600+8del	coding	Pathogenic
7	107674346	CA	C	A107674347G	SLC26A4	NM_000441.2(SLC26A4):c.599del:p.Gln200fs	coding	Pathogenic
7	107674968	TGGATTCAT	ACTTGGC	T107674968A	SLC26A4	NM_000441.2(SLC26A4):c.624_632delinsACTTGGC:p.Gly209fs	coding	Pathogenic
7	107675009	G	GCTT	A107675014T	SLC26A4	NM_000441.2(SLC26A4):c.667_669dup:p.Phe223dup	coding	Pathogenic
7	107675018	CA	C	A107675019G	SLC26A4	NM_000441.2(SLC26A4):c.675del:p.Ala226fs	coding	Pathogenic
7	107675041	GTCTC	G	T107675042A	SLC26A4	NM_000441.2(SLC26A4):c.698_701del:p.Val233fs	coding	Pathogenic
7	107675087	A	ATGGAG	T107675094G	SLC26A4	NM_000441.2(SLC26A4):c.745_749dup:p.Leu251fs	coding	Pathogenic
7	107683323	TC	T	C107683326A	SLC26A4	NM_000441.2(SLC26A4):c.890del:p.Pro297fs	coding	Pathogenic/Likely_pathogenic
7	107689061	CT	C	T107689062C	SLC26A4	NM_000441.2(SLC26A4):c.1011del:p.Pro338fs	coding	Pathogenic
7	107689104	TG	T	G107689105C	SLC26A4	NM_000441.2(SLC26A4):c.1054del:p.Ala352fs	coding	Pathogenic
7	107690163	TTCTTC	T	C107690168G	SLC26A4	NM_000441.2(SLC26A4):c.1194_1198del:p.Phe398fs	coding	Pathogenic
7	107694437	T	TC	G107694439C	SLC26A4	NM_000441.2(SLC26A4):c.1299dup:p.Ala434fs	coding	Pathogenic
7	107694619	A	AGCT	T107694621C	SLC26A4	NM_000441.2(SLC26A4):c.1342-1_1342insCTG	noncoding	Pathogenic
7	107694670	AG	A	G107694671C	SLC26A4	NM_000441.2(SLC26A4):c.1392del:p.Gln464fs	coding	Pathogenic
7	107695817	GA	G	A107695828T	SLC26A4	NM_000441.2(SLC26A4):c.1438-105del	noncoding	Benign
7	107698026	ATAT	A	A107698028T	SLC26A4	NM_000441.2(SLC26A4):c.1545-14_1545-12del	noncoding	Benign/Likely_benign
7	107699927	CAAA	C	A107699941G	SLC26A4	NM_000441.2(SLC26A4):c.1615-142_1615-140del	noncoding	Benign
7	107699927	CAA	C	A107699942G	SLC26A4	NM_000441.2(SLC26A4):c.1615-141_1615-140del	noncoding	Benign
7	107699927	CA	C	A107699943G	SLC26A4	NM_000441.2(SLC26A4):c.1615-140del	noncoding	Benign
7	107700135	AT	A	T107700136G	SLC26A4	NM_000441.2(SLC26A4):c.1668del:p.Phe555_Tyr556insTer	coding	Pathogenic
7	107701837	TA	T	A107701839G	SLC26A4	NM_000441.2(SLC26A4):c.1816del:p.Ser606fs	coding	Pathogenic
7	107701848	GT	G	T107701851C	SLC26A4	NM_000441.2(SLC26A4):c.1828del:p.Ser610fs	coding	Pathogenic
7	107702006	C	CT	G107702008T	SLC26A4	NM_000441.2(SLC26A4):c.1984dup:p.Cys662fs	coding	Pathogenic
7	107702048	AC	A	C107702049T	SLC26A4	NM_000441.2(SLC26A4):c.2026del:p.Leu676fs	coding	Pathogenic
7	107702050	TG	T	G107702051C	SLC26A4	NM_000441.2(SLC26A4):c.2028del:p.Arg677fs	coding	Pathogenic
7	107704334	GT	G	T107704335C	SLC26A4	NM_000441.2(SLC26A4):c.2039del:p.Val680fs	coding	Pathogenic
7	107709994	A	AAAAC	A107710006C	SLC26A4	NM_000441.2(SLC26A4):c.2090-59AAAC[3]	noncoding	Benign
7	107710101	AT	A	T107710103A	SLC26A4	NM_000441.2(SLC26A4):c.2139del:p.Arg714fs	coding	Pathogenic
7	107710137	GCTATACTCTAT	G	T107710141C	SLC26A4	NM_000441.2(SLC26A4):c.2177_2187del:p.Ile726fs	coding	Pathogenic
7	107710138	C	CTA	C107710143T	SLC26A4	NM_000441.2(SLC26A4):c.2177_2178dup:p.Leu727fs	coding	Pathogenic/Likely_pathogenic
7	107710141	TA	T	A107710142C	SLC26A4	NM_000441.2(SLC26A4):c.2178del:p.Leu727fs	coding	Pathogenic
7	107710143	C	CTCTA	C107710152T	SLC26A4	NM_000441.2(SLC26A4):c.2184_2187dup:p.Gln730fs	coding	Pathogenic
7	107710157	C	CA	C107710158A	SLC26A4	NM_000441.2(SLC26A4):c.2193_2194insA:p.Gln732fs	coding	Pathogenic
7	107710328	G	GT	C107710335T	SLC26A4	NM_000441.2(SLC26A4):c.2235+135dup	noncoding	Benign
7	107715237	CAA	C	A107715250G	SLC26A4	NM_000441.2(SLC26A4):c.2320-173_2320-172del	noncoding	Benign
7	107715237	C	CAA	G107715252A	SLC26A4	NM_000441.2(SLC26A4):c.2320-173_2320-172dup	noncoding	Benign
7	107776410	G	GT	A107776412T	SLC26A3	NM_000111.3(SLC26A3):c.1677+41dup	noncoding	Benign
7	107778274	CA	C	A107778277T	SLC26A3	NM_000111.3(SLC26A3):c.1414del:p.Trp472fs	coding	Pathogenic
7	107778360	C	CTTTTT	G107778378T	SLC26A3	NM_000111.3(SLC26A3):c.1408-96_1408-92dup	noncoding	Benign
7	107778360	C	CTTTTTT	G107778378T	SLC26A3	NM_000111.3(SLC26A3):c.1408-96_1408-91dup	noncoding	Benign
7	107778360	C	CTTTTTTTTT	G107778378T	SLC26A3	NM_000111.3(SLC26A3):c.1408-96_1408-88dup	noncoding	Benign
7	107778360	C	CTTTTTTTTTTT	G107778378T	SLC26A3	NM_000111.3(SLC26A3):c.1408-96_1408-86dup	noncoding	Benign
7	107778360	C	CTTTTTTTTTTTTT	G107778378T	SLC26A3	NM_000111.3(SLC26A3):c.1408-96_1408-84dup	noncoding	Benign
7	107782884	T	TA	T107782892A	SLC26A3	NM_000111.3(SLC26A3):c.1234-17dup	noncoding	Benign/Likely_benign
7	107785312	ATCTCAGGTACTCTGCCTCTAGAACACTGGAGCTTACCTACTAGGTTACACTGCCACTCTATTGAACGTAATGGTTACCCGTTGCCACACCCTACACACTGTGGAGAGAGGTACACTGACATTGAAAATACATTCACTAAATAAGACTGTTGTTGAGGTATTTAAGGTGTAACTCAGTGATCTTAAGTTTATCTTTTATTTTCCAAGCCCTTCTGACAAGATCCTGTTTGGTTTTGCAAGTATTCATTTTTTCTATTTGGTTTATGTCTCCCAAGACATTTAAGTAAAGTGAAATCACTTCAAAGTGGCAGAATAGAAGGAAACCCTAGAAACAGTCTTTCAGTTTCAGCCTAATTTCCACTTTAAAACTTTAAAAATTAAAAGTGATGCTTGAGATTCGTGAAATGTAACACACGAAGATCTGGTAATAAAAAAAATGTTTTTTCTTTAAAAAAATAAAAAGTACATATATTTGCCTTTAAAAGAATTTGGCTGTTTTAAAGTAAAAAAAATACATATAAATGCTGATTTCTCGAATTCTCAAATATTTCTTAAGCATAGAGAGGGAGAGAAGTCTTTTAAAAAAACAAAACAAAACAAAACAAAACAGGAAAACACCTTTTCCTTGGTAAGTTGGAAGAAACTGATTCTGTGGTTAGAAGAAACAACACAAAATGATCTTCCTTCTCAATCCACTGAATGTAATGAAATACATTTTAAAATTCTTGTACAAACTGGACTTCTCATCCTTTTGCAGTGGGAAAAGTTGCTCTGCCCTTGTTTTGAATCTGATCGGGAGAAAGGACAGAGTGTGCCTATCTGGACTGCTCACGTGGAGTGCCTGTGTTCCTTCAGTGTCTTCTTTGAACTTTCAGAACTTGGCTCCAGTAACTTCAAACAAAGCATTACATATTGTTTATAGTAATTTATGGACAAGGAAATCTGGTTTCACTTGATGTTTCTTTAAGAGGAGAAGCAGTTTACTTTGCCTATTTTTCTTTATGGTATTATTTATATATTTTTAAAAAAACAAGAGATGGGGGTCTTGCTGTGTTGCCCAGACTGGTCTTGAACTCCCGGGCTCAAGTGATCCTCTCACCTTGGCCTCTCAAATTGCTGGGATTTCAGGCATGAGCCACCGGGTCTGGCCTTACTTTGCTTATTTTTAGACTTTCACTACTTTGCTAACTTTTACTTTCCTGTGAGTTTCTACTGGTCTGTGTCCCTGCTTGTCTTGTTTGTGAGTTCTTCCACAAGGAGAAGCCTTCTGATATTAAGAACTGCATTCACTGTGGGGAGGCGAAAAAAAAAAAAAAAGAACTGCACACCCTGCCTTTCTTTGTAGCACCTTCCTAGAAGGAAAGCAGTGAGCCTTCCTTAGGGATGCAGGGTGCAGGGAGGATTCTGATGAGGGTTACCTGCAGGCTGAACTGCAGTTCGGATTGTACCTCTCCTGTCACTACTGCTAACTCTCTGCTTAGTGCATGGTGATGCCATCATCGAAGACACACTTACCCAGGATTCATGTCCCCAACCACAGCCACTTTAAACCTGTTTTTAAAGTCACAGCCGTAGGATACACCTGCTGCAATCACGGTCTGCAAAGTTGCAAATGGCCCAAGTTAGAAATGTGAGATGCAAGTAAGAGTCTTGCTTTGAAGAAAAATAAATTGCCAAAACCCACTTCTGTACCTGTTAAGTAAGAACTCCAGCCCAGGCTTTGTTACTTTTTAAGAAATTCGGAGGCAATTCTAACATGCCGCCAGGATTGAGAACCACAGCTAAATTCAAATGGCTCTAACACGACATTTTGTCAAGGGTCTTGCTCTCTGCACTATCCTTGTCTCACGTGGAAAAAATTAACTCAAAATCATAAGAGGAAGTTATTAAATTCTGAATGAAAATAAAACCATGCTAAACATTATGCCCGAAAACTGCAGAGATGGCCTCTGCCCCACTAAAACTTCCTGAGCTACAAATGGTGAAGGACTTACAACATATAAACAGTAGAGTAGCTATGACAGAGTCTGAAAATGATCAATTACCATAATGAATTCGATTGGAATGGGCACTGGAAGTTTGTCTTTGAAGCGCTGATTTATTTCTTTAACAATGGATACAACCAAAAGGACAATCAGAGCTGTCACCAGGTCTGCAATATTAGTCTTCTCTATTTGTGAGAATACAGAGTATAGTACCTACAATTATAAAAACAAAAACCACCAAAGCCCTATATTAATGCACAATTTGGATACAACGCATCTCCAAACAAATAAAAATAAACATGGAAGCAAAAAGACTGATAGAGACTGATAGTGATTTCCTGTATTGCCCCGGTTTAATTGTGAATGTGAAATTGTAGAGAGTAGCGATGGAGATATGAGAAGAGTAAGTTAGCATAGTGTAGGTGGCACACTAGTTTAAGAATGCTTCTGGCATTTTTGCTGGGAATCTCTTTGGCTAGTGTCAAATTTTGTTGGATACTTTTCACATTTTTACCACTGGTCTTCTGCCCTTATTAGGTCTCTTTGGTCGTCATTTTTTATTTCACAGCCATCACTACTCTGTCCAGGGAATAACTTCTGATCTTTGATAGTTTTGCTTAGTATGCTCAATTCCTGGCCCTCTTGGGGGGTTTACACCCCCTCATATTTCTTAGCTGACTCTCTATGTCACTTTTGGAAAATAGTTTTCTGGCTAACTGTGCACTATGCATGTGCACATACTTCTTGAAGCTAGTTGGGTTCCATATCCACTTACCCCAAAAAGCTCAAGCAGGCCAAAACTGGATCCCAAATTGCTTCTAGAACACTCCACTTTTGGAATACCTCTGGATGAAAGAGAGTGTTGGTTCCAATTTGGAGCAAGTTCTGTCTCAACTCCCAAAAACTTTTGGGAGTCGTTAAAAATCAAACACATCTACCATCGAGCTAATGTTAACAACAAAAATTAAGTAACACTTCTCCTATATTTGACTCAAGTATTTTCAAAAAAATAATCTATGTTATTAAAAGCTTTACCATTTTGTCCCAAGTTTTAAAACTAAGAACACTATCTGTTCTACTTTGCATCCTCTGGAGGAGGGGAGAACTGCTGCCCTATCTACATAGTGGTAAATGTTCTTTTGTTTTCTAAACAGGATGCAAAAAGACCCAAGAACTTCAATTCTAAAAGAATGAGACATGCTTTTCAAGAAACAGGAAAACATCATAACTCAATTAGCAAATTTCTTTCAAAATAAGATTTTAAGAAACAGTTTAAAACTTGGGACAAAATGGTAAAGCTTTTAAAACATAGACTTTTTTTTTCCTTTTGGAAAGTACTTGAGTCAAATCTAAGAGAAGTGTTACTTAATTTTGTTGTTAACATTAGCTGTATGGTAGATGTGGTTGATTTTCAGTATTGTTCCCTTGCTACTTTTTCTTTTCTTTCGTTTCCTTTTTTCTTTTCTTTTCTTTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACTATGTCTCGC	A	C107785316G	SLC26A3	NM_000111.3(SLC26A3):c.735+708_971+1514del	noncoding	Pathogenic
7	107786613	GA	G	A107786628G	SLC26A3	NM_000111.3(SLC26A3):c.971+213del	noncoding	Benign
7	107786613	G	GA	G107786629A	SLC26A3	NM_000111.3(SLC26A3):c.971+199dup	noncoding	Benign
7	107789644	CA	C	A107789645G	SLC26A3	NM_000111.3(SLC26A3):c.614del:p.Leu205fs	coding	Pathogenic
7	107790796	CTGTT	C	T107790800G	SLC26A3	NM_000111.3(SLC26A3):c.570+248_570+251del	noncoding	Benign
7	107791625	AAAAT	A	T107791653A	SLC26A3	NM_000111.3(SLC26A3):c.382+177ATTT[6]	noncoding	Benign
7	107791867	GA	G	A107791868T	SLC26A3	NM_000111.3(SLC26A3):c.344del:p.Ile115fs	coding	Pathogenic/Likely_pathogenic
7	107793727	TA	T	A107793735T	SLC26A3	NM_000111.3(SLC26A3):c.271+14del	noncoding	Benign
7	107793855	ATTCTCTTGGCCTT	A	C107793858G	SLC26A3	NM_000111.3(SLC26A3):c.145_157del:p.Lys49fs	coding	Pathogenic/Likely_pathogenic
7	107891387	G	GC	G107891389C	DLD	NM_000108.5(DLD):c.39+99dup	noncoding	Benign
7	107904981	GA	G	A107904982C	DLD	NM_000108.5(DLD):c.362del:p.Asp121fs	coding	Pathogenic
7	107915485	GT	G	T107915492A	DLD	NM_000108.5(DLD):c.685-14del	noncoding	Benign
7	107915601	CT	C	T107915604C	DLD	NM_000108.5(DLD):c.783del:p.Gln262fs	coding	Pathogenic
7	107917930	GAGTAC	G	G107917932A	DLD	NM_000108.5(DLD):c.1245_1249del:p.Tyr416fs	coding	Pathogenic
7	107919078	TAG	T	A107919081T	DLD	NM_000108.5(DLD):c.1446_1447del:p.Arg482fs	coding	Pathogenic/Likely_pathogenic
7	107925898	T	TAA	G107925914A	LAMB1	NM_002291.3(LAMB1):c.5064+270_5064+271dup	noncoding	Benign
7	107925898	T	TA	G107925914A	LAMB1	NM_002291.3(LAMB1):c.5064+270dup	noncoding	Benign
7	107925911	AAAG	A	A107925912C	LAMB1	NM_002291.3(LAMB1):c.5064+269_5064+271del	noncoding	Benign
7	107928865	TGAA	T	G107928866T	LAMB1	NM_002291.3(LAMB1):c.4887+196_4887+198del	noncoding	Benign
7	107935343	CTTTGTTTTTTTTTT	C	G107935347T	LAMB1	NM_002291.3(LAMB1):c.4188+58_4188+71del	noncoding	Benign
7	107936822	GA	G	A107936834T	LAMB1	NM_002291.3(LAMB1):c.3946+270del	noncoding	Benign
7	107937003	CT	C	T107937013C	LAMB1	NM_002291.3(LAMB1):c.3946+89del	noncoding	Benign
7	107953359	TA	T	A107953375T	LAMB1	NM_002291.3(LAMB1):c.3079+170del	noncoding	Benign
7	107962707	CAA	C	A107962724G	LAMB1	NM_002291.3(LAMB1):c.1857+196_1857+197del	noncoding	Benign
7	107962707	CA	C	A107962725G	LAMB1	NM_002291.3(LAMB1):c.1857+197del	noncoding	Benign
7	107963005	G	GCTCCA	G107963011C	LAMB1	NM_002291.3(LAMB1):c.1752_1756dup:p.Ala586fs	coding	Pathogenic
7	107963059	AC	A	C107963064T	LAMB1	NC_000007.13:g.107603505del	coding	Pathogenic
7	107978455	TA	T	A107978472C	LAMB1	NM_002291.3(LAMB1):c.880-289del	noncoding	Benign
7	107980860	G	GT	C107980874T	LAMB1	NM_002291.3(LAMB1):c.677-62dup	noncoding	Benign
7	107980860	GT	G	T107980873C	LAMB1	NM_002291.3(LAMB1):c.677-50del	noncoding	Benign
7	108184243	TCCACG	GA	T108184243G	NRCAM	NM_001037132.4(NRCAM):c.2297_2302delinsTC:p.Thr766fs	coding	Pathogenic
7	108491481	GA	G	A108491488T	PNPLA8	NM_001256007.3(PNPLA8):c.1626-15del	noncoding	Benign
7	112461852	ATT	A	T112461862A	IFRD1	NM_001550.4(IFRD1):c.568-4_568-3del	noncoding	Benign
7	114628616	TC	T	C114628618T	FOXP2	NM_014491.4(FOXP2):c.337del:p.Leu113fs	coding	Pathogenic
7	114642414	CT	C	T114642416A	FOXP2	NM_014491.4(FOXP2):c.782del:p.Gly260_Leu261insTer	coding	Pathogenic
7	114642799	TATATA	T	A114642800T	FOXP2	NM_014491.4(FOXP2):c.989+177_989+181del	noncoding	Benign
7	114642801	TA	T	A114642802T	FOXP2	NM_014491.4(FOXP2):c.989+179del	noncoding	Benign
7	114642801	TATATATA	T	A114642802T	FOXP2	NM_014491.4(FOXP2):c.989+179_989+185del	noncoding	Benign
7	114652275	AC	A	C114652276A	FOXP2	NM_014491.4(FOXP2):c.1168del:p.Gln390fs	coding	Pathogenic
7	114659425	TA	T	A114659427G	FOXP2	NM_014491.4(FOXP2):c.1540del:p.Arg514fs	coding	Pathogenic
7	114663436	A	ATT	C114663447T	FOXP2	NM_014491.4(FOXP2):c.1770-5_1770-4dup	noncoding	Benign
7	114663562	CT	C	T114663577G	FOXP2	NM_014491.4(FOXP2):c.1839+58del	noncoding	Benign
7	114690129	CTTTTT	C	T114690142A	FOXP2	NM_014491.4(FOXP2):c.*216_*220del	noncoding	Benign
7	114979658	TC	T	C114979659A	MDFIC	NM_001166345.3(MDFIC):c.371del:p.Leu123_Ser124insTer	coding	Pathogenic
7	114979673	C	CA	T114979680A	MDFIC	NM_001166345.3(MDFIC):c.391dup:p.Met131fs	coding	Pathogenic
7	116526072	C	CCGGGGA	A116526083G	CAV1	NM_001753.5(CAV1):c.31-448_31-443dup	noncoding	Benign
7	116559112	TTC	T	C116559118T	CAV1	NM_001753.5(CAV1):c.368_369del:p.Ser123fs	coding	Pathogenic
7	116559612	A	AG	A116559615G	CAV1	NM_001753.5(CAV1):c.*327dup	noncoding	Benign
7	116700477	A	AT	A116700478T	MET	NM_000245.4(MET):c.1200+193_1200+194insT	noncoding	Benign
7	116741067	G	GTT	G116741084T	MET	NM_000245.4(MET):c.1701+57_1701+58dup	noncoding	Benign
7	116755526	T	TA	T116755531A	MET	NM_000245.4(MET):c.1862+15dup	noncoding	Benign
7	116758444	A	AT	G116758453T	MET	NM_000245.4(MET):c.2103-7dup	noncoding	Benign
7	116758444	AT	A	T116758452G	MET	NM_000245.4(MET):c.2103-7del	noncoding	Benign
7	116758444	ATT	A	T116758451G	MET	NM_000245.4(MET):c.2103-8_2103-7del	noncoding	Benign/Likely_benign
7	116771617	GT	G	T116771622C	MET	NM_000245.4(MET):c.2855del:p.Phe952fs	coding	Pathogenic
7	116771794	C	CCT	G116771797C	MET	NM_000245.4(MET):c.2888-54_2888-53dup	noncoding	Benign
7	117479225	AT	A	T117479234C	CFTR	NC_000007.13:g.117119280del	noncoding	Benign
7	117480133	CAAACT	C	A117480134T	CFTR	NM_000492.4(CFTR):c.40_44del:p.Lys14fs	coding	Pathogenic
7	117480136	AC	A	C117480137T	CFTR	NM_000492.4(CFTR):c.43del:p.Leu15fs	coding	Pathogenic
7	117480137	CTT	C	T117480143C	CFTR	NM_000492.4(CFTR):c.49_50del:p.Phe17fs	coding	Pathogenic/Likely_pathogenic
7	117498442	TTGACCCCAATACTGCGATTTTAAATTGAATTCTTGAAGCCTACAAGTTTTACACAGGACTTTAGAGAGCTGGATAGTATCACTTTGTCAAGTCCTACTTTTACTATGATTCTTTGAGAAAAATACATCTGACTAAATAACTCTGAATCTAAATTGGATAAAATAAATGTGACATTCAAAATGTTATTTATGATTTTAGAAAAATATCCTTATAGACACTAGATGAGTTTTAGTCTCAAATCAATCCTCCCTATCATAGTCACTTATCAAAATAACTAAAGCAAAGTGGTAGAGCTGTGCTCTAGAAGTTTGGGATTTATGATCACAATCTTTTCCAATGAGTCCCCTCTTTCCTCTGCCTGTCTTCAACATTTGTTTTTTTTTTTTTTTGGTTAGGACTATCCAGATTGTGTGGCCTATTTCAAACTCATGGCAAATACATTGGATGATCAGAAATTTTCTAATGTATTTGAATTTGTCTACACAAACTAGAGTAATTGCTATTAATTCCTCAAGTGTTAATTATTTCATGCAAAAAGGAAAAAGGCTATTAGTCTTTAAGTGTATTAGTATGTCAATATTTGGGAGAAGTGTCATGCAATTAGTGGTTTGAATTTCCTATTTTATTTTATTGCATTTTATTTTATTTGCCTAGTCAAATAAAAAGTAATGTTAAATACATGGAAGCATGATTGTTTTCTACACTAAAAATCATTTTGACTTGAAAAGATCTGATATCCATGACCTTCATCTGAAGTTTTGGCAGATGAAAATGTCAGATGCGTCTTTTGGATTAATAAAAGGCAAAAGTCAGATCGAAAAATGAGTATAAGCTTTAATTATATGACTTTAGGAGGATATGTTATGAAAATCAAAGCTTTAATAGTGATTATAATTGGCAAGTTCTTTTTTTATAAGGAATTACAAGTCACTCTATACAAAAATTGGAATTTTTGTCCTAAGAAATGAAATTTACTATAGTTTCATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAAAAAATCAAGTGATAGGGCTTTTCCTCAATAAAATCTGAAATCTCTTATAGTTAAGTGAACAGAACAGTGTATCTAGGATGCTAGACTTTTTTTTCAAAGTTAGTTTAAAACTTATACATAGTAAAATCTGTATGCCTTAGGGATCTCTGTTTGCTATCCCATAGTGAATGATTAATTAGTTTCTGTTAGAAATAGTCAGAACTAGGCTGGGTGTGGTGGTGGCTCATGCCTGTAATTCCAGGACTTTGGGAGGCCAAGGCAGGAGGATCTCTTAAGCCCAGGAATTTGCAACCAGCTTGGGCAGGCTGGTGAGATCCTATCTCTACAAAAACAAACAAACAAACAAAGGACAATAAGAAAGAAAGAAATAGCCAGAGCTTTGAACAAAATTTCTAAGTAGACCAATGTAAAAGTCTGTCGTCAATATGTAGTGGCTATGAATGGAGGTTATGAATGAAAGAGAAGGATAAGATGAACTAGAGGTGAGAGGGGAAGACAGCAGGCCCAAGTGAAAGGCAGAGCCGAGTTTATTGCTTTTTGGTTATTCCAGGTGTGTCTGCTTTGTCTCATGAAACACCTGGATGATCACTGATTTCTAGTGGAAGAAATGCTGAAAAGTCCTTACTGTGCATTTAAACATTCTAGGTTTAATATACTCAGGGTTTTTCAAAAGAAAGGGTGGCTGGAGTTTTGCACTAACTAATATTTCATAAAGTGTCTAAGTATAGATGTCTGGTTTTTTTTTGTATTTCTAAGACTGGCTTGAGGTAGGCATGGAGAATTCTTTGATGGGACATAATTTTCTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCCACCTCAGCCTCCCGCGTAGCTGGGATTACAGGCATGTGCCCCCATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTGATGGGACATATTTTTCATTCAATTTTATTGATTTAACCTCACAAAATAAAATATTTCCTTAAGATGACTCTGTGGTCATTGTTGGGCAGCATAAGCTTAATGGATTTTAGTTATCATAATTTACCTTAAACCCAATTTGTATTTCAGGATATAAATAGAGGTTTATTGTAGTGAATCTTCCAGGAAATACTAAGTGATACTAATAATTATAGATGGTGAACTTAAGTCTTTATATTACTGAATTTGTTTGGTTTGATGATGCTAGGCTATGGCATTCTTGCTAATCAAAACGATGTGTCATGGTGTAACATAACTTATTAAAATGGGCACAGATAACACAGGAAGCTTTTTATAAAAGCAGCTCACAAATTGTGTTACTTTGAACTGAACTGGCCATTTATGGGAAAGGTCACTGGGTTGTAAATAAGGACCAAAAGAGTTACGTTTATATTTTTTAAAAGAGATTGAGGAGATTTATTTTTACATTTCTTGAAAATGCCTTATTTTGGTATGGTATTGACAGATAGTGAAATTCTGCTCATTTGTAAATATAGTGTCATATTTTAATAATTTCAAACATATTGAAAATGCAGAATTTATTAATAGTGGGAGCACATTTTCCTTTTTACTAAATGTTCTACAGGTTCTTTTCTTTCCATCCACACACAGTGCCATTACCCTCATTCTAAGCCTTTCAAACATCTGGCAGTAAGTGATCTGCTGCACTTAGCTCTTTCCAGCTGAGCTGATTTTTAAATTTTCAGAAAATTTGTGAGCTAATTGTTAAACATGGCCATTATTAAAAATTAAATTATTTCAACTTATAATTAAATAAATTATATTAAAACAAAAGTATTAAAAACTCAAAAGTTGGCTGGGCGCACTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATTGCCTGAAGTCAGGGGTTCGAGACCAACCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATATAAAAAAATAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATTGCGCCATTGCGCTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAAAAAAAAAAAAAACAAAAAGCAAACAAACAAAAAAACAAAAATTATCACTTCCTAATTATTTTGCATTTTACTATTATCTATGCTATTAACGTTATTTGCCTTCATTGTATTTGAAAGGTGGACTATATTCTATTGCACTTTCATTGTACTATATTCTAATATGCAACTGTGTATCCCTTCCCAACTCTGTGTTCAATGACTTTATATTTGGTTGCTTTAAAATGATGACGATGAGAGTATTTATATCATAGAAATTGGCAAATGCCGTAAGTCAGTTTTTGTTTTTGTTTTTGTTTTCCGGAGAGGGGATTGTTAAATATTTGCCTGCATGCAACACCACTACATGCAGTCTGCTATCTTTTGTTCTTCCTGCTTTCAGGCTCCTCTCCCAGCTGTCTGTCTAGCACAACCCAGCATACCAAATTTTCTTAAATAGGGAAAGTTGAACATGGTAAAAGAATGAATGAAGTCAAAAGAATGTGGAAAGACCTAGGCTTTGCCATTTAGTAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGGTGGGTGTGCCATCACTTTCTCAGATGATGTCCACTGAAGACCTTGCATGATCATGGCATTCATTTTCCTGCTGTATTCAGACTGGCCTCAACTATTTTCTTTATTGCTCTCCAGGAAAAATTACAAATGAATCAGACTGGGCAATGAAGGGTAAACCTAATTATCGCTCTTTGTTAAAGACAGCTCTTGTTAAAATGCGGATATTGCAAATTAATGGAAAAAATATGACATAGTAAACCATACTCACTTATTAATATCTTAGTAAGGAATAATTGATGAAGTTACTTAACCTTAGAGCCCTAATTCAGTTAAGTTTTAATGAAGGACAAGTTGTAGAGATATCGAGAACCCAGGGCAGGTGCCTACTGAAGAAGTTCCAGACCAAGGAAGTATAAAGAAGGACCTGGGTGGGAGCAGTGAGATTGGATATGAGGGCCACTGGCAAAGTTTTGCCCCAGAACAGTGTCAAAATGTTTGCATTTGGCATAGCCCTTTCTCTTTTTGTTCTGAATGGCTTTGCTAGAATATCTTTTCTATAATGAATTTATCCTGCTTCTCAGATATTGCTAAAGCACTCCCTTTTGAATTTTGGTGCTTTAACATGCATTTTGATACATTACCAAATAAGGTCTGAATGACACAAATTTTAGAACTCTCCAGAGAAAAGAAAGATGCTGAGGGAAAAAGCATAGGTTTGGGACTCACTAAATCCCAGTTCAATTCCTTTCTTTAATAAATATATTCAATTTTACCTGAGAAAGCTCTCGTGCTCTCGAATTTTATTTAGAAATTTCTCTTTGTACATGATTGATTTCACAATCCTTCTTCTGCCTCCTCTTCTACTTTCTTCTTTCTAGATTTTCCTATCTTTATGAAGATTATTCTGCCTTATCCTCAACAGTTAGAAACAATATTTTTGAAAATCACTACGGTATCCTGCATAGTGATTTCCCATGCCAACTTTACTAATTTCCATTATAAATTATTATTTATTGATGCCTAGAGGGCAGATGAGTGTAGCTGCTATGGAGTGAGGAGACAAAACATAAGAAAGTTATGATCCTACCCTCAGGTAATGATTCAGACATGATAATTAAGTCAACAAATTGATAGAAACTAATCACTAACTCTCTGGCTATAGTCATTCTTTCAATGAATAGCTCATTACTGAGTATGCATGCTACAGTAACAAAATTATATAAGGCTGTTGATTAAATGTTGATTAAGTGCATGTCTTATTCAGAGTTTTTTTATATTTGAAATGGAAGAGGCTGGACTTCAGTAATTTGCTATAAACTGCTAGTATATGATTATTTGGGGGCAGTTATTTTTTAAAGAATAATTTAAATATGGAATGTTTAGCAGTTTGTTTTTTCCCTGGGAAAAACCATACTATTATTCCCTCCCAATCCCTTTGACAAAGTGACAGTCACATTAGTTCAGAGATATTGATGTTTTATACAGGTGTAGCCTGTAAGAGATGAAGCCTGGTATTTATAGAAATTGACTTATTTTATTCTCATATTTACATGTGCATAATTTTCCATATGCCAGAAAAGTTGAATAGTATCAGATTCCAAATCTGTATGGAGACCAAATCAAGTGAATATCTGTTCCTCCTCTCTTTATTTTAGCTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAGGTATGTTCATGTACATTGTTTAGTTGAAGAGAGAAATTCATATTATTAATTATTTAGAGAAGAGAAAGCAAACATATTATAAGTTTAATTCTTATATTTAAAAATAGGAGCCAAGTATGGTGGCTAATGCCTGTAATCCCAACTATTTGGGAGGCCAAGATGAGAGGATTGCTTGAGACCAGGAGTTTGATACCAGCCTGGGCAACATAGCAAGATGTTATCTCTACACAAAATAAAAAAGTTAGCTGGGAATGGTAGTGCATGCTTGTATTCCCAGCTACTCAGGAGGCTGAAGCAGGAGGGTTACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCTTGGGTGACACAGCAAAACCCTCTCTCTCTAAAAAAAAAAAAAAAAAGGAACATCTCATTTTCACACTGAAATGTTGACTGAAATCATTAAACAATAAAATCATAAAAGAAAAATAATCAGTTTCCTAAGAAATGATTTTTTTTCCTGAAAAATACACATTTGGTTTCAGAGAATTTGTCTTATTAGAGACCATGAGATGGATTTTGTGAAAACTAAAGTAACACCATTATGAAGTAAATCGTGTATATTTGCTTTCAAAACCTTTATATTTGAATACAAATGTACTCCCTGGGAAGTCTTAAGGTAATGGCTACTGGTTATCAAACAAATGTAAAAATTGTATATTTTTGAGTACCTGTTACATGCCAGGTAGAATATCTCCTCTCAGCCACTCTGAGTGGAAAGCATCATTATCTCTATTTTACAGAAAAGCAAACTGAGGCTCAGAGAGATAATATACTTTGCCAGTTAATGAATGATGGAGCCATGATTCCAGCTGAGGTCTGTATTGCCTTGCTCTCTAGGAATGGTAGTCCCCCCCATAAAGAATCTCTCAGTTTCCTTTCCAATCAAAAGGTTAGGATCCTTTTGATTGCCAGTGACAGAAACCCAATTTACTAGCTTAAGTAAATAAAAGGAACGAATTTATTGGCTCATGAAGCCTGAACTATGTGAAGACCTAGGTGGAGAACTGGCCTTAGGAACTCAATGGGACCAAGGACTCAAATGCCACCTGGTGGCATTTGCCTTATGCTGGTTTTATTTTCTCAGACCGGACCAGCTTTCTACATAAAGTGGGTCCCTGGTTAGAACTCTTTGCTCCTATCTTTAAGGACCACGAAAGAAGGAGCCCTTTGTCCTTGGCTAAATGTGAAAAATCCCAGAGACTCTTGAGTCATAGTGCTTACCCCTTGGGCCACTCATAGTCTAGAATGAACTAGGCTGAGTCTCGTGCCAACAGCACAGGCCTGATGCCAGATAAAAGGGTGAGTGAAGGGGGATAAAAAATAAGACATAGCTACTAAATTATTGCACCAAAGTAAAAACATTGAGTTGACTTGCAATTTGTTTCTTTTAATTAAATTCATTTCCTTTTTTTGGCATTTTGAAGGCAAAGTAAGATATTAAACTTTATTTTTATTGATTTTATTCAAAGAATTAAGCTAGTGGGAGTAGCAGATTCACACTTCTAAGATCAAGGGCCAGCTTCTATTATTGAACACTTGGTGTGTGCAAATGCCATGAGGTAGGGATACTTTGTTTTGTTTTTTATTTTTTATTGGGTTCGATCTCTTTTGTTTATGATGTATCCCCAAGTGCCTAGAATAGGGCCTGGCATATGGTATATACTCAATAAATATTTGTTGAATGAATCCATGATGGAATGTGAAATGGCTAGCATTACATAGAAACCTGTAGCATTGCTGGAGAGATAAAATATATAAACATAATCCATTGCAGGTATATTGACAAGTTCAAAATAATATAATGGGTATTGAATATCTAAATGTTTGTTGTTGTTGTTGCTGTTGTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTAATGGTGCAATTTTGGCTCACTGCAAACTTCGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGTTTACAGGCACTCGCCACAATGCCTGGCTAATTTTTGTATTTTAGTAGATGTGGAGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAATGCTGGGATTATAGGTGTGAGCCACTATGCCCAGCTTTGA	GGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT	T117498442G	CFTR	NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT	noncoding	Pathogenic
7	117504287	C	CA	G117504289A	CFTR	NM_000492.4(CFTR):c.89dup:p.Arg31fs	coding	Pathogenic
7	117504296	GAATTGTCAGACATATACC	G	T117504299A	CFTR	NM_000492.4(CFTR):c.100_117del:p.Leu34_Gln39del	coding	Pathogenic/Likely_pathogenic
7	117504339	ACAAT	A	A117504341T	CFTR	NM_000492.4(CFTR):c.142_145del:p.Asn48fs	coding	Pathogenic
7	117504350	GA	G	A117504355T	CFTR	NM_000492.4(CFTR):c.156del:p.Lys52fs	coding	Pathogenic
7	117504350	G	GA	T117504356A	CFTR	NM_000492.4(CFTR):c.156dup:p.Leu53fs	coding	Pathogenic
7	117509102	T	TC	T117509104C	CFTR	NM_000492.4(CFTR):c.234dup:p.Trp79fs	coding	Pathogenic/Likely_pathogenic
7	117530920	CCT	C	C117530925T	CFTR	NM_000492.4(CFTR):c.300_301del:p.Leu101fs	coding	Pathogenic
7	117530930	TG	T	G117530933A	CFTR	NM_000492.4(CFTR):c.308del:p.Gly103fs	coding	Pathogenic
7	117530949	CTA	C	A117530951G	CFTR	NM_000492.4(CFTR):c.326_327del:p.Ser108_Tyr109insTer	coding	Pathogenic
7	117530954	AC	A	C117530957G	CFTR	NM_000492.4(CFTR):c.332del:p.Pro111fs	coding	Pathogenic/Likely_pathogenic
7	117531017	TTATTG	T	A117531019G	CFTR	NM_000492.4(CFTR):c.394_398del:p.Ile132fs	coding	Pathogenic
7	117534283	AG	A	G117534284C	CFTR	NM_000492.4(CFTR):c.498del:p.Lys166fs	coding	Pathogenic
7	117534333	CTCCTT	C	T117534337A	CFTR	NM_000492.4(CFTR):c.551_555del:p.Leu184fs	coding	Pathogenic
7	117534366	G	GACAT	T117534367A	CFTR	NM_000492.4(CFTR):c.579+1_579+2insACAT	coding	Pathogenic
7	117535278	GCTCCTTTGCAAGTGGCACTCCTCATGGGGCTAATCTGGGAGTTGTTACAGGCGTCTGCCTTCTGTGGACTTGGTTTCCTGATAGTCCTTGCCCTTTTTCAGGCTGGGCTAGGGAGAATGATGATGAAGTACAGGTAGCAACCTATTTTCATAACTTGAAAGTTTTAAAAATTATGTTTTCAAAAAGCCCACTTTAGTAAAACCAGGACTGCTCTATGCATAGAACAGTGATCTTCAGTGTCATTAAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTAGATCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCACTGCAACTTCTGCCTCCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAGAGGCGCATGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAGGGTTTCACCAGGTTGCCCAGGCTGGTCTCGAATGCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGATATTACAGGCATGAGCTACCGCGCCCGGCCTAAAAAATACTTTTTAAGATGGTGTAAATATTACTTTCTGTATCAATGGTACATTTTTTACTTGTCAGTCTCTAGAATTTCTTTATAAATATGTTGATTCAGTTCATTTTTGTAGATTATAAAACAGGTAAAAAAGGATAAAACATTTATGTGAATTAAAGGGAATACCTAATTTTTGTGTAGAGTTTATTAGCTTTTACTACTCTGGTTTATGGATCATCACACCAGAGCCTTAGTTACTTTGTGTTACAGAATAACTAATATGAGTGAATGAATGACTTACACAAGTCACTGCTTAGGATAAAGGGCTTGAGTTTGTCAGCTAGAGTATGACAGAAAGTATCTAAGTTTTGGAGTCAAATAGCACTTTGTTTGAATCCCAGATTGCATGCTTACTAGTTATGTGACCTTAGTCAAGCCACTTCACCTCACTGAGTCTTTGCTTTTTTCATCTCTAAAATAGAGATACCCACCGCTCATAGGCTGTCATAAGGGATAGAGATAGCATATGGAATGAGTCTGTACAGCGTCTGGCACATAGGAGGCATTTACCAAACAGTAGTTATTATTTTTGTTACCATCTATTTGATAATAAAATAATGCCCATCTGTTGAATAAAAGAAATATGACTTAAAACCTTGAGCAGTTCTTAATAGATAATTTGACTTGTTTTTACTATTAGATTGATTGATTGATTGATTGATTGATTTACAGAGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTGATTACCTCAGAAATGATTGAAAATATCCAATCTGTTAAGGCATACTGCTGGGAAGAAGCAATGGAAAAAATGATTGAAAACTTAAGACAGTAAGTTGTTCCAATAATTTCAATATTGTTAGTAATTCTGTCCTTAATTTTTTAAAAATATGTTTATCATGGTAGACTTCCACCTCATATTTGATGTTTGTGACAATCAAATGATTGCATTTAAGTTCTGTCAATATTCATGCATTAGTTGCACAAATTCACTTTCATGGGCTGTAGTTTTATGTAGTTGGTCCAGGGTGTTATTTTATGCTGCAAGTATATTATACTGATACGTTATTAAAGAATTTCCTACATATGTTCACTGCTGCTCAATACATTTATTTCGTTAAAACAATTATCAAGATACTGAAGGCTGATTGGTAACTCACATGGAACTGGGAGAGTATACAATTCTGAACCAAATAGATGATTCTCTATTATTATATCTTAATTTATGTGTTATGGTATATTAAACATGAAAAAAATTGTATTTGGTTAGAATATGTTTGCTCTTCCTTAACTCGGGAATGACATAGGGTAATATTCACAGATTGGGTTCCTATAAATCCTCCACTTGAAGTGAAGTCAGTTCAAGTAATGAAAGCTACCTCCTGAGATAGAATCAGTACTTGGCACCTATCTCTAGTGTTCTTTCACCTCATATAACCTTTCACTGATTAGTAAAGATTATATCCAACAAAGAAAGTACAGCACAGACTGAGATATGATTACTGAGATAAATTTGGGCAAAATATAAACTACAGCATTTCTGTAGCAATGAGACCATTTTTCTTCAGTTGAGCTCCATGTTCTACAAACTTCAATCAAAAAAGGTTCTAGGAGACTCAGTGAAAGTTGATACACTGTTCAAGGAACAAATAATTTCAGCACATGGGAATTTCACAGGGAAAAATATACTAAAAAGAGAGGTACCATTTTGGATGGTGTCAATATGGGTTATGAGGAATTCAGGCTGCTGAGTCCAGTGTACAATGGAAACTGAGCTGCAGGTGTGTGATTGTAACAACAAAAGAAATGCTGAAATATTAAGTCCTTTGCCATGTAAATAGAAAAAGAGTATTTATTTCCCAAACATTATTGCTCACCTGTTTTTGTTATGCCTTTCAAGATAAATCCAGGAAAGGAATTGCATTTTCTTTCCAGAAAACAAGTTCTTGGGGGAATTGTTCAATTGGTAGATGTTGTTTTTCTCATTAACAAGTGAGTGCTCCATCACACTTGCTGAGTGCTCCATCACACTTGCTCTCTGCATTACTCCTCTGCCTGCAAACACATATATAGCAAGGGTGATGACAAGGATATCAGAGGGTCTGGTTTTCTCAAACTCATGATAAACTCATGGCTGGGTCATTCTTGGTGCTGATTTTACTTTGTTTTTTGTTGTTATTGTTCCCTCTTCCTCAAAAGATGAAATCTATCCCTCTTACTTGGAATTTCTCTTTGATATATAGCGAATGTTTGGTTGTAACCTGTATAATCTGGCATGAAATTGTCACTCGAAAAGGCTAGAAGTGTTGACATAAATATGGGACAGCAAGAGTTGCTCCTACTCAAGAGAGCAAATATAATGTTCTGGAAGAGATTGGCAGAATTCACATCAAAGGAGTGATTACTTCAGCCTGGGCCACTGTTGTACTGGTCAAAAGGCTGTGCAAAGCTCTCTGAAAATCCACTCTTTTATTGCTCTTTAGTAATAAAGTCACTTTCAATTTTAAAAATAACAAACTGATATATTTTTATGACTCATAAAATGTTAGCAATTATATTATGGAGAATCTACTTTCTGGGTGATTCTTACAAATGTTCTTGGATCTATTTTTTTTTCTTATAGTACCTATTCTTCCCATTTTTCTCAGCTCTAGTTAATATATTTCAACAACAGTTCAACAAATTTAACATTTTTATAAAAAGTGTTTC	G	C117535281A	CFTR	NM_000492.4(CFTR):c.613_870-1547del	coding	Pathogenic
7	117536563	GA	G	A117536565G	CFTR	NM_000492.4(CFTR):c.761del:p.Lys254fs	coding	Pathogenic
7	117536573	GA	G	A117536576G	CFTR	NM_000492.4(CFTR):c.772del:p.Arg258fs	coding	Pathogenic/Likely_pathogenic
7	117536579	CT	C	T117536581G	CFTR	NM_000492.4(CFTR):c.777del:p.Leu259_Val260insTer	coding	Pathogenic
7	117536614	AT	A	T117536615C	CFTR	NM_000492.4(CFTR):c.811del:p.Ser271fs	coding	Pathogenic/Likely_pathogenic
7	117540089	GT	G	T117540095A	CFTR	NM_000492.4(CFTR):c.870-5del	noncoding	Benign
7	117540148	TAGCTC	T	T117540152C	CFTR	NM_000492.4(CFTR):c.922_926del:p.Ser308fs	coding	Pathogenic
7	117540199	TC	T	C117540202T	CFTR	NM_000492.4(CFTR):c.972del:p.Tyr325fs	coding	Pathogenic
7	117540305	CAAAC	AAAAA	C117540305A	CFTR	NM_000492.4(CFTR):c.1075_1079delinsAAAAA:p.Gln359_Thr360delinsLysLys	coding	Pathogenic
7	117540309	CA	C	A117540310T	CFTR	NM_000492.4(CFTR):c.1080del:p.Trp361fs	coding	Pathogenic
7	117542057	CTT	C	T117542058A	CFTR	NM_000492.4(CFTR):c.1159_1160del:p.Leu387fs	coding	Pathogenic
7	117542075	AG	A	G117542076T	CFTR	NM_000492.4(CFTR):c.1177del:p.Val392_Val393insTer	coding	Pathogenic
7	117548622	GTGTGTGT	G	G117548624T	CFTR	NM_000492.4(CFTR):c.1210-17_1210-11del	noncoding	Benign
7	117548622	GTGTGTGTT	G	G117548624T	CFTR	NM_000492.4(CFTR):c.1210-17_1210-10del	noncoding	Benign
7	117548627	TG	T	G117548628T	CFTR	NM_000492.4(CFTR):c.1210-13del	noncoding	Benign
7	117548628	G	GT	A117548636T	CFTR	NM_000492.4(CFTR):c.1210-6dup	noncoding	Benign/Likely_benign
7	117548628	G	GTGTGT	T117548630G	CFTR	NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT	noncoding	Benign
7	117548628	G	GTGTGTT	T117548630G	CFTR	NM_000492.4(CFTR):c.1210-12_1210-11insGTGTTT	noncoding	Benign
7	117548628	G	GTGT	T117548630G	CFTR	NM_000492.4(CFTR):c.1210-12_1210-11insGTT	noncoding	Benign
7	117548628	G	GTGTT	T117548630G	CFTR	NM_000492.4(CFTR):c.1210-12_1210-11insGTTT	noncoding	Benign
7	117548630	T	GTGTG	T117548630G	CFTR	NM_000492.4(CFTR):c.1210-11delinsGTGTG	noncoding	Pathogenic
7	117548650	GA	G	A117548652T	CFTR	NM_000492.4(CFTR):c.1221del:p.Glu407fs	coding	Pathogenic
7	117548657	TTG	T	T117548658A	CFTR	NM_000492.4(CFTR):c.1227_1228del:p.Phe409fs	coding	Pathogenic
7	117548664	AG	A	G117548665C	CFTR	NM_000492.4(CFTR):c.1234del:p.Ala412fs	coding	Pathogenic
7	117548665	GCAAAA	G	A117548674T	CFTR	NM_000492.4(CFTR):c.1243_1247del:p.Gln414_Asn415insTer	coding	Pathogenic
7	117548687	G	GA	C117548693A	CFTR	NM_000492.4(CFTR):c.1261dup:p.Thr421fs	coding	Pathogenic
7	117548744	CTCCTG	C	T117548750A	CFTR	NM_000492.4(CFTR):c.1319_1323del:p.Val440fs	coding	Pathogenic
7	117548763	TA	T	A117548765T	CFTR	NM_000492.4(CFTR):c.1334del:p.Asn445fs	coding	Pathogenic
7	117548769	CAAGATAGA	C	T117548774G	CFTR	NM_000492.4(CFTR):c.1343_1350del:p.Ile448fs	coding	Pathogenic
7	117559515	A	AT	A117559518T	CFTR	NM_000492.4(CFTR):c.1446dup:p.Lys483Ter	coding	Pathogenic
7	117559532	AATTTC	A	T117559536C	CFTR	NM_000492.4(CFTR):c.1465_1469del:p.Ser489fs	coding	Pathogenic
7	117559533	ATTTCATTCTGTTC	A	T117559535C	CFTR	NM_000492.4(CFTR):c.1464_1476del:p.Cys491fs	coding	Pathogenic
7	117559538	AT	A	T117559540C	CFTR	NM_000492.4(CFTR):c.1469del:p.Phe490fs	coding	Pathogenic/Likely_pathogenic
7	117559616	TAG	T	G117559618T	CFTR	NM_000492.4(CFTR):c.1547_1548del:p.Arg516fs	coding	Pathogenic
7	117559642	GC	G	C117559644A	CFTR	NM_000492.4(CFTR):c.1573del:p.Gln525fs	coding	Pathogenic
7	117559644	CAACTAGAAGAGGTAAGA	C	G117559650T	CFTR	NM_000492.4(CFTR):c.1579_1584+11del	coding	Pathogenic
7	117587746	CC	G	C117587746G	CFTR	NM_000492.4(CFTR):c.1592_1593delinsG:p.Ile530_Ser531insTer	coding	Pathogenic
7	117587777	TG	T	G117587779A	CFTR	NM_000492.4(CFTR):c.1625del:p.Gly542fs	coding	Pathogenic
7	117590410	TG	T	G117590411T	CFTR	NM_000492.4(CFTR):c.1738del:p.Val580fs	coding	Pathogenic
7	117591972	TG	T	G117591974T	CFTR	NM_000492.4(CFTR):c.1807del:p.Val603fs	coding	Pathogenic
7	117592054	A	AT	C117592059T	CFTR	NM_000492.4(CFTR):c.1891dup:p.Ser631fs	coding	Pathogenic
7	117592089	GCTCAAAAC	G	C117592090T	CFTR	NM_000492.4(CFTR):c.1923_1930del:p.Ser642fs	coding	Pathogenic
7	117592101	TG	T	G117592104A	CFTR	NM_000492.4(CFTR):c.1937del:p.Gly646fs	coding	Pathogenic
7	117592113	CT	C	T117592116C	CFTR	NM_000492.4(CFTR):c.1949del:p.Phe650fs	coding	Pathogenic
7	117592140	GA	G	A117592143T	CFTR	NM_000492.4(CFTR):c.1976del:p.Asn659fs	coding	Pathogenic
7	117592208	GA	G	A117592211C	CFTR	NM_000492.4(CFTR):c.2044del:p.Thr682fs	coding	Pathogenic/Likely_pathogenic
7	117592368	GA	G	A117592370G	CFTR	NM_000492.4(CFTR):c.2203del:p.Arg735fs	coding	Pathogenic/Likely_pathogenic
7	117592427	GT	G	T117592428G	CFTR	NM_000492.4(CFTR):c.2261del:p.Val754fs	coding	Pathogenic
7	117592444	C	CA	C117592446A	CFTR	NM_000492.4(CFTR):c.2278dup:p.Thr760fs	coding	Pathogenic
7	117592467	AG	A	G117592468T	CFTR	NM_000492.4(CFTR):c.2301del:p.Gln767fs	coding	Pathogenic
7	117592500	AC	A	C117592502A	CFTR	NM_000492.4(CFTR):c.2335del:p.Gln779fs	coding	Pathogenic
7	117592502	CA	C	A117592504G	CFTR	NM_000492.4(CFTR):c.2337del:p.Gly780fs	coding	Pathogenic
7	117592556	G	GC	T117592561C	CFTR	NM_000492.4(CFTR):c.2393dup:p.Gln799fs	coding	Pathogenic
7	117592600	G	GT	A117592603T	CFTR	NM_000492.4(CFTR):c.2435dup:p.Leu812fs	coding	Pathogenic
7	117592637	AT	A	T117592639A	CFTR	NM_000492.4(CFTR):c.2472del:p.Asn825fs	coding	Pathogenic
7	117592639	T	TAACG	G117592646C	CFTR	NM_000492.4(CFTR):c.2475_2478dup:p.Glu827fs	coding	Pathogenic/Likely_pathogenic
7	117594993	TA	T	A117594994T	CFTR	NM_000492.4(CFTR):c.2555del:p.Tyr852fs	coding	Pathogenic
7	117594998	T	TA	C117595000A	CFTR	NM_000492.4(CFTR):c.2560dup:p.Thr854fs	coding	Pathogenic
7	117595029	ATT	A	T117595031G	CFTR	NM_000492.4(CFTR):c.2592_2593del:p.Ile864fs	coding	Pathogenic
7	117595042	TA	T	A117595044T	CFTR	NM_000492.4(CFTR):c.2605del:p.Ile869fs	coding	Pathogenic
7	117595042	T	TA	T117595045A	CFTR	NM_000492.4(CFTR):c.2605dup:p.Ile869fs	coding	Pathogenic
7	117595049	T	TC	T117595051C	CFTR	NM_000492.4(CFTR):c.2611dup:p.Leu871fs	coding	Pathogenic
7	117602840	GGTTGTGCT	G	T117602843G	CFTR	NM_000492.4(CFTR):c.2637_2644del:p.Val880fs	coding	Pathogenic
7	117602847	C	CTG	G117602852T	CFTR	NM_000492.4(CFTR):c.2644_2645dup:p.Trp882fs	coding	Pathogenic/Likely_pathogenic
7	117603578	AG	A	G117603579C	CFTR	NM_000492.4(CFTR):c.2705del:p.Ser902fs	coding	Pathogenic
7	117603617	GTG	A	G117603617A	CFTR	NM_000492.4(CFTR):c.2743_2745delinsA:p.Val915fs	coding	Pathogenic
7	117603695	CT	C	T117603696A	CFTR	NM_000492.4(CFTR):c.2822del:p.Leu941fs	coding	Pathogenic
7	117603720	AC	A	C117603722A	CFTR	NM_000492.4(CFTR):c.2848del:p.His950fs	coding	Pathogenic
7	117604866	AGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTCTGAGTTGGCGCTATAAGAGCAGTGATCATGGGCAAGTGACTCTTCTGAGCCTTGGCCTCCTCACCTGTTAAGTGAAGAAAAGAATATTTCAGAAGATCTTTGTGAGAATGAAACAAGGCAATTTACTTGCCTGCTACATAGCCAATGGGAAATCAATATAAGTTCCCCGTGGTTCCCTTCTGTGGGGTTTTGTTCCCACAGAGGGTGCACTGGCCATTCCACTTCTTCTTTTCCAAGCTCCTCATTCCCTTTAACGCTGTTCATAGTTGGTTCCAAACCATTTGAAATATAATAAGCACCAGGATGGTTTTTTCTTTCCACCAAAGCAAATTTCATTTTCTAAACACTGTTTATAAATATCAATGGCTATTTTTTCAATTTTTGATTATCATGAAAATATACAAATATGTTTAATTAAATATGCTAAAGAATGTATTAATAAATATGTATTAAATAATTCCTACATATAAGGCCTTTTTGCTTGGGGTATGGGTGATACAAAATAAATGTGGCATGAACCCACTGACCTCTAGCAATTTATAACCTAGAAAAAGAGTTATGATATGTTTATAAGTTCCTGTGATATAAGACATGCATATAGTCATTATAACAGAGGTGCAAACAAGATGTATCAAGTATGTCCAGAGGAGGAAGAGATTAATCCCAGCTGGAGGAAACACTGATGCTTTCTTGCAGCAGGGGCATTTGAGTTGAGAAAGGGAGGAAACATAGATTTTGACAATGAGAGCTGAGGGGAAAGGGGTTTCAGGTGGAGGGAACCGCATGTGGAAAGCAGGGAGGTAGGAAAGTGTAGAGTGTGTTTAAAGAATAGACCAGTTTGGCTGAAACAGGATATTTGAGCAGAGGAAGCTTGTACTAGGTAGGTGGGTTGAGGCCAAATTATGCAAGGCATTAAATATTAAACTAGGAATTTTGGACTTTATCCTGCAGTTTATGGGGGGTAAATGATAAGATTCAATATCACTTTATTTGTACAGTATTATGTTACATTTTATCTAATTGTTTGTTTAATTCCTGTCTAGACAATGAATTCCTCAAGGGCAAGGAGCATGGCTTATTCACCTCAGTAATTTCAGTGCCTAGCATTGTGCCTGGTACAAAGTGGACACTTGTATATAACCTTTTTTAATTGAAGCAACAAGTTGTCAACCTTACAAATGTGAATCCGTGATTCAGATGACAGGTTGAAATGTAGATTGTCTGCGAAGAGGGCAGAAAGAGAGTATGACAAAGGAGGACAAGACAGTGGGGCAGGCAGGGAGAGAGAGCAGCCAGGGTTTCGGTAGAGGTATGTCAAAAAGGTATGGAAGTCAGAGGAGAAGGAGACCCCTATGTTATAGAATACAAATGGAAGGGAAATGATGACAACAGTAAGTTGTCATTAAATGCAAGGTTGCAAAAGTAAGATTGTAAAGCAGGATGAGTACCCACCTATTCCTGACATAATTTATAGTAAAAGCTATTTCAGAGAAATTGGTCGTTACTTGAATCTTACAAGAATCTGAAACTTTTAAAAAGGTTTAAAAGTAAAAGACAATAACTTGAACACATAATTATTTAGAATGTTTGGAAAGAAACAAAAATTTCTAAGTCTATCTGATTCTATTTGCTAATTCTTATTTGGGTTCTGAATGCGTCTACTGTGATCCAAACTTAGTATTGAATATATTGATATATCTTTAAAAAATTAGTGTTTTTTGAGGAATTTGTCATCTTGTATATTATAGGTGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAGGTATGTAAAAATAAGTACCGTTAAGTATGTCTGTATTATTAAAAAAACAATAACAAAAGCAAATGTGATTTTGTTTTCATTTTTTATTTGATTGAGGGTTGAAGTCCTGTCTATTGCATTAATTTTGTAATTATCCAAAGCCTTCAAAATAGACATAAGTTTAGTAAATTCAATAATAAGTCAGAACTGCTTACCTGGCCCAAACCTGAGGCAATCCCACATTTAGATGTAATAGCTGTCTACTTGGGAGTGATTTGAGAGGCACAAAGGACCATCTTTCCCAAAATCACTGGCCACAAAGTGTGACATTTTGGCATTGGCATCACTATTTGATGGAAGCCAACCTCCCCCCAAAAGGCCTGTATTAGAATGAAGATGGATTCCCTGGGTGGGTTACACTTGAAACTAGCCTCACCCATGAACACTTTGGCACAGATTAGCTAGCCCATTCCCCCACAGTAAGGACCATAAGGAAGGGACAGAAGCAAAGATAAGTTTTAGAACAAAAGAGAGGGGAAAGAAAAAATCTAGGGTTTTATGAGGGCTGTCCCTGAGTGATAGATGTGAATAGGCCTCCAGGGCAGGCTGGCTCAGAGGCTGACTCTTTGGGTTGGGGTGACTGATTGGTGGTGAGGATGGAGAAGAAAAGGGGAGTGGAGGAGGTGAAAGTGACCTTGGGACATTAGGTCTCCATAAGTGACAGGATTTAAGGAGTGTTGTAAGCTGTGGTTGTTGGACCAGGTTTAAGCACAGCTTCCTGAGCTTCCTGACTGGTTTAGGTCAAGCTCCAGAGAGCAAATGCCACAGTCTCAGTGATCTCCTTGGAGAAACAGTTGGAATAGGATGTTGCCCATGTTGGGATGAGTCATTGTCCGCTCTTGCTCTTTCCCTACCCCTGCAAAATAATAATACTGTATTTGATTGAACATATAAAACAAAAGAAGGATTATCACATAAGTATGTATATATAACCAACATTGGCAGGTGCAGAAAAACCAGACTGTCAGTTTGCCTCATCTGAAATGATTGACACAAACAAATATATTTACTGTCCCAAGTGAACTTTGGCATTTTGGATATCCTTCAGTTGTTCTGTTTAAAGATATAACTTAGAAGCAGCTGATGGAATATTTAAATCCATGCGTTGAATTCATGCATTCAAAGAAACATGTCCTGAGTCACTAAATGCTGACATTTGTTTTTCATGTTAAGAGTGTAAATAACTGGTCCCAAATATAATATTATTACATCAGATAAAAACTGGAATGTGAACCTCTTAACTTGATTGTGAAAGTATTTGCCAATGGTGCCTCTTGATAATTATTTGAGGCTCACTTCAGAACTCCTCTGGAAGGGTTAATTTTTAAATAGTCATTTTATAAATTAACATTTTTGACATATGTGATGGCTCTCAAATTTTTTCTTTTATGCCAGTTTGAATCATTTCTGCTCAATTTTTTTTTTTAATTGGGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTGACTGCAACCTCCACCTCCTCGGTTCAAGCGATTCTCTCGCATCAGCCTCCAGAGTAGCTGGGATTACAGGCGCGCACCACCATGCCTGGATAATTTTTGTATTATTACTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCTTAAAGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTTTATTGTGGCAAGTCCACTTAACATGAGATTTACCCTCTTAACAGATTTTTATGTGTAAAATACAATATTGTTCACCATGGGTAAATGTTGCACAGCAGATCTCTGGAACTTATTCATTTTGCACTACTGAAATTTTATACCTGTTGATTAGTATCTCCCCATTTCCCTCTCTCCCCTGTCCTGTTACCCATGGTTCTGTTCTTTGCTTCTTTGAGTTTGAGTATTTTGATACCTCATGTAATCTTCATTCTATTTTCTAACTTTGACAATGTTCTGACAAATTTGCTTTCCGGATTGGAGCACTGTATAGTGAAAATTGAAAATCTTGGTTATTTTCTACAGATTCCCACTATTTTACCTTGAGCAGACACTTATCTTGAAGGGTCTCAGATTTGTCACTTGTAGAATGGGGAATATAAACCTGATAATGGTCCCTTTCAGTTCTAAAGTTATATCAGTTGAAAATACATGTGTCACTTATGGTAACGGGTAGAGAACTGGCTCACTGAACAGCATATGGATATTATAAAGTGGTTTTTTTTAATCCTTTCTGCAGACAGTTACTTTATACTTTATTCAAATGGATTATTGTGAAGTACATGTTAGCGGACTTTGTACCTTTTAAAAATGTATGTATTTGGTGTAATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCACTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAAAATAAAAAAAAGTTTGAGGTGTTTAAAGTATGCAAAAAAAAAAAAAGAAATAAATCACTGACACACTTTGTCCACTTTGCAATGTGAAAATGTTTACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAGGTATGACAGTGAATGTGCGATACTCATCTTGTAAAAAAGCTATAAGAGCTATTTGAGATTCTTTATTGTTAATCTACTTAAAAAAAATTCTGCTTTTAAACTTTTACATCATATAACAATAATTTTTTTCTACATGCATGTGTATATAAAAGGAAACTATATTACAAAGTACACATGGATTTTTTTTCTTAATTAATGACCATGTGACTTCATTTTGGTTTTAAAATAGGTATATAGAATCTTACCACAGTTGGTGTACAGGACATTCATTTATAATAAACTTATATCAGTCAAATTAAACAAGGATAGTGCTGCTATTACTAAAGGTTTCTCTGGGTTCCCAAATGATACTTGACCAAATTTGTCCCTTTGGCTTGTTGTCTTCAGACACCCTTTCTTCATGTGTTGGAGCTGCCATTTCGTGTGCCCCCAAACTCTACTTGAGCTGTTAGGGAATCACATTTTGCAGTGACAGCCTTAGTGTGGGTGCATTTTCAGGCAATACTTTTTCAGTATATTTCTGCTTTGTAGATTATTAGCTAAATCAAGTCACATAAACTTCCTTAATTTAGATACTTGAAAAAATTGTCTTAAAAGAAAATTTTTTTAGTAAGAATTAATTTAGAATTAGCCAGAAAACTCCCAGTGGTAGCCAAGAAAGAGGAATAAATATTGGTGGTAATTTTTTAAGTTCCCATCTCTGGTAGCCAAGTAAAAAAAGAGGGTAACTCATTAATAAAATAACAAATCATATCTATTCAAAGAATGGCACCAGTGTGAAAAAAAGCTTTTTAACCAATGACATTTGTGATATGATTATTCTAATTTAGTCTTTTTCAGGTACAAGATATTATGAAATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAG	A	G117604867T	CFTR	NM_000492.4(CFTR):c.2908+1085_3367+260del	noncoding	Pathogenic
7	117606038	CTGGTACAAAGTGGACACTTGTATATAACCTTTTTTAATTGAAGCAACAAGTTGTCAACCTTACAAATGTGAATCCGTGATTCAGATGACAGGTTGAAATGTAGATTGTCTGCGAAGAGGGCAGAAAGAGAGTATGACAAAGGAGGACAAGACAGTGGGGCAGGCAGGGAGAGAGAGCAGCCAGGGTTTCGGTAGAGGTATGTCAAAAAGGTATGGAAGTCAGAGGAGAAGGAGACCCCTATGTTATAGAATACAAATGGAAGGGAAATGATGACAACAGTAAGTTGTCATTAAATGCAAGGTTGCAAAAGTAAGATTGTAAAGCAGGATGAGTACCCACCTATTCCTGACATAATTTATAGTAAAAGCTATTTCAGAGAAATTGGTCGTTACTTGAATCTTACAAGAATCTGAAACTTTTAAAAAGGTTTAAAAGTAAAAGACAATAACTTGAACACATAATTATTTAGAATGTTTGGAAAGAAACAAAAATTTCTAAGTCTATCTGATTCTATTTGCTAATTCTTATTTGGGTTCTGAATGCGTCTACTGTGATCCAAACTTAGTATTGAATATATTGATATATCTTTAAAAAATTAGTGTTTTTTGAGGAATTTGTCATCTTGTATATTATAGGTGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAGGTATGTAAAAATAAGTACCGTTAAGTATGTCTGTATTATTAAAAAAACAATAACAAAAGCAAATGTGATTTTGTTTTCATTTTTTATTTGATTGAGGGTTGAAGTCCTGTCTATTGCATTAATTTTGTAATTATCCAAAGCCTTCAAAATAGACATAAGTTTAGTAAATTCAATAATAAGTCAGAACTGCTTACCTGGCCCAAACCTGAGGCAATCCCACATTTAGATGTAATAGCTGTCTACTTGGGAGTGATTTGAGAGGCACAAAGGACCATCTTTCCCAAAATCACTGGCCACAAAGTGTGACATTTTGGCATTGGCATCACTATTTGATGGAAGCCAACCTCCCCCCAAAAGGCCTGTATTAGAATGAAGATGGATTCCCTGGGTGGGTTACACTTGAAACTAGCCTCACCCATGAACACTTTGGCACAGATTAGCTAGCCCATTCCCCCACAGTAAGGACCATAAGGAAGGGACAGAAGCAAAGATAAGTTTTAGAACAAAAGAGAGGGGAAAGAAAAAATCTAGGGTTTTATGAGGGCTGTCCCTGAGTGATAGATGTGAATAGGCCTCCAGGGCAGGCTGGCTCAGAGGCTGACTCTTTGGGTTGGGGTGACTGATTGGTGGTGAGGATGGAGAAGAAAAGGGGAGTGGAGGAGGTGAAAGTGACCTTGGGACATTAGGTCTCCATAAGTGACAGGATTTAAGGAGTGTTGTAAGCTGTGGTTGTTGGACCAGGTTTAAGCACAGCTTCCTGAGCTTCCTGACTGGTTTAGGTCAAGCTCCAGAGAGCAAATGCCACAGTCTCAGTGATCTCCTTGGAGAAACAGTTGGAATAGGATGTTGCCCATGTTGGGATGAGTCATTGTCCGCTCTTGCTCTTTCCCTACCCCTGCAAAATAATAATACTGTATTTGATTGAACATATAAAACAAAAGAAGGATTATCACATAAGTATGTATATATAACCAACATTGGCAGGTGCAGAAAAACCAGACTGTCAGTTTGCCTCATCTGAAATGATTGACACAAACAAATATATTTACTGTCCCAAGTGAACTTTGGCATTTTGGATATCCTTCAGTTGTTCTGTTTAAAGATATAACTTAGAAGCAGCTGATGGAATATTTAAATCCATGCGTTGAATTCATGCATTCAAAGAAACATGTCCTGAGTCACTAAATGCTGACATTTGTTTTTCATGTTAAGAGTGTAAATAACTGGTCCCAAATATAATATTATTACATCAGATAAAAACTGGAATGTGAACCTCTTAACTTGATTGTGAAAGTATTTGCCAATGGTGCCTCTTGATAATTATTTGAGGCTCACTTCAGAACTCCTCTGGAAGGGTTAATTTTTAAATAGTCATTTTATAAATTAACATTTTTGACATATGTGATGGCTCTCAAATTTTTTCTTTTATGCCAGTTTGAATCATTTCTGCTCAATTTTTTTTTTTAATTGGGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTGACTGCAACCTCCACCTCCTCGGTTCAAGCGATTCTCTCGCATCAGCCTCCAGAGTAGCTGGGATTACAGGCGCGCACCACCATGCCTGGATAATTTTTGTATTATTACTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCTTAAAGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTTTATTGTGGCAAGTCCACTTAACATGAGATTTACCCTCTTAACAGATTTTTATGTGTAAAATACAATATTGTTCACCATGGGTAAATGTTGCACAGCAGATCTCTGGAACTTATTCATTTTGCACTACTGAAATTTTATACCTGTTGATTAGTATCTCCCCATTTCCCTCTCTCCCCTGTCCTGTTACCCATGGTTCTGTTCTTTGCTTCTTTGAGTTTGAGTATTTTGATACCTCATGTAATCTTCATTCTATTTTCTAACTTTGACAATGTTCTGACAAATTTGCTTTCCGGATTGGAGCACTGTATAGTGAAAATTGAAAATCTTGGTTATTTTCTACAGATTCCCACTATTTTACCTTGAGCAGACACTTATCTTGAAGGGTCTCAGATTTGTCACTTGTAGAATGGGGAATATAAACCTGATAATGGTCCCTTTCAGTTCTAAAGTTATATCAGTTGAAAATACATGTGTCACTTATGGTAACGGGTAGAGAACTGGCTCACTGAACAGCATATGGATATTATAAAGTGGTTTTTTTTAATCCTTTCTGCAGACAGTTACTTTATACTTTATTCAAATGGATTATTGTGAAGTACATGTTAGCGGACTTTGTACCTTTTAAAAATGTATGTATTTGGTGTAATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCACTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAAAATAAAAAAAAGTTTGAGGTGTTTAAAGTATGCAAAAAAAAAAAAAGAAATAAATCACTGACACACTTTGTCCACTTTGCAATGTGAAAATGTTTACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAGGTATGACAGTGAATGTGCGATACTCATCTTGTAAAAAAGCTATAAGAGCTATTTGAGATTCTTTATTGTTAATCTACTTAAAAAAAATTCTGCTTTTAAACTTTTACATCATATAACAATAATTTTTTTCTACATGCATGTGTATATAAAAGGAAACTATATTACAAAGTACACATGGATTTTTTTTCTTAATTAATGACCATGTGACTTCATTTTGGTTTTAAAATAGGTATATAGAATCTTACCACAGTTGGTGTACAGGACATTCATTTATAATAAACTTATATCAGTCAAATTAAACAAGGATAGTGCTGCTATTACTAAAGGTTTCTCTGGGTTCCCAAATGATACTTGACCAAATTTGTCCCTTTGGCTTGTTGTCTTCAGACACCCTTTCTTCATGTGTTGGAGCTGCCATTTCGTGTGCCCCCAAACTCTACTTGAGCTGTTAGGGAATCACATTTTGCAGTGACAGCCTTAGTGTGGGTGCATTTTCAGGCAATACTTTTTCAGTATATTTCTGCTTTGTAGATTATTAGCTAAATCAAGTCACATAAACTTCCTTAATTTAGATACTTGAAAAAATTGTCTTAAAAGAAAATTTTTTTAGTAAGAATTAATTTAGAATTAGCCAGAAAACTCCCAGTGGTAGCCAAGAAAGAGGAATAAATATTGGTGGTAATTTTTTAAGTTCCCATCTCTGGTAGCCAAGTAAAAAAAGAGGGTAACTCATTAATAAAATAACAAATCATATCTATTCAAAGAATGGCACCAGTGTGAAAAAAAGCTTTTTAACCAATGACATTTGTGATATGATTATTCTAATTTAGTCTTTTTCAGGTACAAGATATTATGAAATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCCCTGTTTTCACAGTTTTAAAAACCGATGCACACAGATTGTCAGATAGCAATTCTGTGATTGAAGGGGAAATATGTCACCTCTTCATACTCATATTGGTGAAGGGTCCTAGCTTCAAAATTAATAGATTCCTAAAGAGGGGAAATGAAACATCCGCATTTACACACACACACACACACACACACACAGAGTTCCTCTTGTCGGTAAGTTTTGTTTTTTTTAAATCTCTACTAGATAAAATTTGTTATCTAATTGTGAGTTTTACACAAAGAAAAACTGTCACAGAAAAGAAAGACAGTGTCACATTTTTCAAAAGAAAAAGAAGAAAAGAAAGTGCCATGTTTTTCAAATACAAATGTTCTGGATTGATTTTAGGATCTTTAGTGAAAAACAAAGTATTTCATAATAAGTAAAATAAAAATCTATGTAGGTAAATTTGTTTCTCTAATTTAAGAATTTGAATTTCTGAGTATTTATGATAAGTGTTGAAATAACTTCTTATATGTGACAGTGAATACTGGCAGAGCAAATGCCAAATCAATGCCAAATCTGTAGGATCATTTGATTGTAGGAACAGAATTCTACTCAAACCGAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTACCAGGGCTATGCCACATTGACTTTATGTAGTGTCTCCATTCTGGCCTCCTGAATTTACAGGAGAGTTCCTCTGTACAAACTCAAAGTCCTGGAGAGAACAGAAAACAGCTTCCTTTTGGCTCAGGGGTCCAACTGC	TAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	C117606038T	CFTR	NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	noncoding	Pathogenic
7	117606666	T	TATTATAGGTGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG	A117606685T	CFTR	NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT	noncoding	Pathogenic
7	117606671	TAGGTGGGATTCTTAATAGATTCTCCAAAGATATAGCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAGGTATGTAAAAATAAGTACCGTTAAGTATGTCTGTATTATTAAAAAAACAATAACAAAAGCAAATGTGATTTTGTTTTCATTTTTTATTTGATTGAGGGTTGAAGTCCTGTCTATTGCATTAATTTTGTAATTATCCAAAGCCTTCAAAATAGACATAAGTTTAGTAAATTCAATAATAAGTCAGAACTGCTTACCTGGCCCAAACCTGAGGCAATCCCACATTTAGATGTAATAGCTGTCTACTTGGGAGTGATTTGAGAGGCACAAAGGACCATCTTTCCCAAAATCACTGGCCACAAAGTGTGACATTTTGGCATTGGCATCACTATTTGATGGAAGCCAACCTCCCCCCAAAAGGCCTGTATTAGAATGAAGATGGATTCCCTGGGTGGGTTACACTTGAAACTAGCCTCACCCATGAACACTTTGGCACAGATTAGCTAGCCCATTCCCCCACAGTAAGGACCATAAGGAAGGGACAGAAGCAAAGATAAGTTTTAGAACAAAAGAGAGGGGAAAGAAAAAATCTAGGGTTTTATGAGGGCTGTCCCTGAGTGATAGATGTGAATAGGCCTCCAGGGCAGGCTGGCTCAGAGGCTGACTCTTTGGGTTGGGGTGACTGATTGGTGGTGAGGATGGAGAAGAAAAGGGGAGTGGAGGAGGTGAAAGTGACCTTGGGACATTAGGTCTCCATAAGTGACAGGATTTAAGGAGTGTTGTAAGCTGTGGTTGTTGGACCAGGTTTAAGCACAGCTTCCTGAGCTTCCTGACTGGTTTAGGTCAAGCTCCAGAGAGCAAATGCCACAGTCTCAGTGATCTCCTTGGAGAAACAGTTGGAATAGGATGTTGCCCATGTTGGGATGAGTCATTGTCCGCTCTTGCTCTTTCCCTACCCCTGCAAAATAATAATACTGTATTTGATTGAACATATAAAACAAAAGAAGGATTATCACATAAGTATGTATATATAACCAACATTGGCAGGTGCAGAAAAACCAGACTGTCAGTTTGCCTCATCTGAAATGATTGACACAAACAAATATATTTACTGTCCCAAGTGAACTTTGGCATTTTGGATATCCTTCAGTTGTTCTGTTTAAAGATATAACTTAGAAGCAGCTGATGGAATATTTAAATCCATGCGTTGAATTCATGCATTCAAAGAAACATGTCCTGAGTCACTAAATGCTGACATTTGTTTTTCATGTTAAGAGTGTAAATAACTGGTCCCAAATATAATATTATTACATCAGATAAAAACTGGAATGTGAACCTCTTAACTTGATTGTGAAAGTATTTGCCAATGGTGCCTCTTGATAATTATTTGAGGCTCACTTCAGAACTCCTCTGGAAGGGTTAATTTTTAAATAGTCATTTTATAAATTAACATTTTTGACATATGTGATGGCTCTCAAATTTTTTCTTTTATGCCAGTTTGAATCATTTCTGCTCAATTTTTTTTTTTAATTGGGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTGACTGCAACCTCCACCTCCTCGGTTCAAGCGATTCTCTCGCATCAGCCTCCAGAGTAGCTGGGATTACAGGCGCGCACCACCATGCCTGGATAATTTTTGTATTATTACTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCTTAAAGAGCTGGAATTATAGGTGTGAGCCACTGCACCAGGCCCTGTTCAACTTTTAATGCTAAGATTCATTTGTTGTTGTTTCACAAGTGATTAGGCAGAGGTCTTTTATATTAATTTACCCATTTTATTTGTAAGAGAGTCTCATATTAAGGAAGCATAATATATGACAATCCAAATACAGTACAAATTTGGTTAATTTTGATTTTGTTAAATAATTAATCACAGGGGTCCTTCAAATTGTGAGCTCCTCTGGTTATACTTATGTTTTACCTCTGGTTATACTTAATTTCAAACAAATGAAATTTCATTCTATTCATGATATTTCAGAAGCAGATCTGTTGCACAAAATAAAGCATACCTATAAATTTTCTTTTTTTAAAAAAAAGTCTCTGTTCACTCTATTTTCTATTATTTTTCTCTTTTTAAAATTTGAATTTTATTGTGGCAAGTCCACTTAACATGAGATTTACCCTCTTAACAGATTTTTATGTGTAAAATACAATATTGTTCACCATGGGTAAATGTTGCACAGCAGATCTCTGGAACTTATTCATTTTGCACTACTGAAATTTTATACCTGTTGATTAGTATCTCCCCATTTCCCTCTCTCCCCTGTCCTGTTACCCATGGTTCTGTTCTTTGCTTCTTTGAGTTTGAGTATTTTGATACCTCATGTAATCTTCATTCTATTTTCTAACTTTGACAATGTTCTGACAAATTTGCTTTCCGGATTGGAGCACTGTATAGTGAAAATTGAAAATCTTGGTTATTTTCTACAGATTCCCACTATTTTACCTTGAGCAGACACTTATCTTGAAGGGTCTCAGATTTGTCACTTGTAGAATGGGGAATATAAACCTGATAATGGTCCCTTTCAGTTCTAAAGTTATATCAGTTGAAAATACATGTGTCACTTATGGTAACGGGTAGAGAACTGGCTCACTGAACAGCATATGGATATTATAAAGTGGTTTTTTTTAATCCTTTCTGCAGACAGTTACTTTATACTTTATTCAAATGGATTATTGTGAAGTACATGTTAGCGGACTTTGTACCTTTTAAAAATGTATGTATTTGGTGTAATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCACTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAAAATAAAAAAAAGTTTGAGGTGTTTAAAGTATGCAAAAAAAAAAAAAGAAATAAATCACTGACACACTTTGTCCACTTTGCAATGTGAAAATGTTTACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAGGTATGACAGTGAATGTGCGATACTCATCTTGTAAAAAAGCTATAAGAGCTATTTGAGATTCTTTATTGTTAATCTACTTAAAAAAAATTCTGCTTTTAAACTTTTACATCATATAACAATAATTTTTTTCTACATGCATGTGTATATAAAAGGAAACTATATTACAAAGTACACATGGATTTTTTTTCTTAATTAATGACCATGTGACTTCATTTTGGTTTTAAAATAGGTATATAGAATCTTACCACAGTTGGTGTACAGGACATTCATTTATAATAAACTTATATCAGTCAAATTAAACAAGGATAGTGCTGCTATTACTAAAGGTTTCTCTGGGTTCCCAAATGATACTTGACCAAATTTGTCCCTTTGGCTTGTTGTCTTCAGACACCCTTTCTTCATGTGTTGGAGCTGCCATTTCGTGTGCCCCCAAACTCTACTTGAGCTGTTAGGGAATCACATTTTGCAGTGACAGCCTTAGTGTGGGTGCATTTTCAGGCAATACTTTTTCAGTATATTTCTGCTTTGTAGATTATTAGCTAAATCAAGTCACATAAACTTCCTTAATTTAGATACTTGAAAAAATTGTCTTAAAAGAAAATTTTTTTAGTAAGAATTAATTTAGAATTAGCCAGAAAACTCCCAGTGGTAGCCAAGAAAGAGGAATAAATATTGGTGGTAATTTTTTAAGTTCCCATCTCTGGTAGCCAAGTAAAAAAAGAGGGTAACTCATTAATAAAATAACAAATCATATCTATTCAAAGAATGGCACCAGTGTGAAAAAAAGCTTTTTAACCAATGACATTTGTGATATGATTATTCTAATTTAGTCTTTTTCAGGTACAAGATATTATGAAATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAAC	T	G117606676A	CFTR	NM_000492.4(CFTR):c.2911_3367+2del	noncoding	Pathogenic
7	117606719	AC	A	C117606721T	CFTR	NM_000492.4(CFTR):c.2956del:p.Leu986fs	coding	Pathogenic
7	117606722	T	TTC	G117606726C	CFTR	NM_000492.4(CFTR):c.2959_2960dup:p.Pro988fs	coding	Pathogenic
7	117610523	TA	T	A117610524T	CFTR	NM_000492.4(CFTR):c.2994del:p.Leu998fs	coding	Pathogenic
7	117611617	TA	T	A117611621G	CFTR	NM_000492.4(CFTR):c.3180del:p.Gly1061fs	coding	Pathogenic
7	117611621	AGGACTAT	A	T117611626A	CFTR	NM_000492.4(CFTR):c.3185_3191del:p.Leu1062fs	coding	Pathogenic
7	117611733	TG	T	G117611735T	CFTR	NM_000492.4(CFTR):c.3294del:p.Trp1098fs	coding	Pathogenic
7	117611739	CA	C	A117611742T	CFTR	NM_000492.4(CFTR):c.3301del:p.Gln1100_Met1101insTer	coding	Pathogenic
7	117611761	TTG	T	G117611763C	CFTR	NM_000492.4(CFTR):c.3322_3323del:p.Val1108fs	coding	Pathogenic
7	117611762	TG	T	G117611763T	CFTR	NM_000492.4(CFTR):c.3322del:p.Val1108fs	coding	Pathogenic
7	117614649	TAGCCATGAATATCATG	T	C117614652T	CFTR	NM_000492.4(CFTR):c.3407_3422del:p.Ala1136fs	coding	Pathogenic
7	117614653	CATGA	C	G117614656A	CFTR	NM_000492.4(CFTR):c.3411_3414del:p.Met1137fs	coding	Pathogenic
7	117614713	GGTAAGT	ATAAAAAGCTTATAAAAAG	G117614713A	CFTR	NM_000492.4(CFTR):c.3468_3468+6delinsATAAAAAGCTTATAAAAAG	coding	Pathogenic
7	117624637	GAACTTTTCTTAGAGGACCTGGTATCTAAACCCTCTTGTTACCCCCATTTATGGACCCCATTTATGGGGTGAGGAGAGTGACTGCTTCTAATCCATCATAATTTTTGTCTATGGCTACTGTTTTTGCATAGACACTATGTTTTGAGTCCTTAGGCTTTGGCTTTTGGCGCTTAATGGCCAATATTCACATGGCTCAAAATTTTCAAATGATCCATATCTGACTTGAGTTTCAAAAGTCAGTTTTTGAAACTTAAATGATCAGAATTGATTTGTTCTGCTCTGGTTCTGATGTGGCCTCTCCTTCCAGAGGTACTGGAGGTAGAATATCCAAGGTGGAAAGCCCACGACTACAAGGAATTGGTTAGTAATTCATAATGTTAGCTGTCCACATCTATTCAGTAATGGCATTTCAGTGGCTGCACAACTGACCATGGTGAAAGTGTCTGCACAAGCCACTTTTTCTTCCTGTCAGAAAATGTTCTCACCCACTGAATTGAATGACTGTCTGCTCATATGCTGTGAATGAGTGCCCAGTCTTAAGATTAAATCACACGTTCTTGGCTATGCATATTTGGGCATGCTGTGGGGAGTTATAATAGGCTGTCTTAGAGTCACATTAAGCAGCTAGACAGACAATGAGTTGGAAAGTTACATTTTCTAAATTTGATTGGTACATTCCATTTGTCACATTTGACATTAGAAGTTCTGGATTCACCCTCTATGGTGAGCTTCACTAATGGAGAATGTAATTTGCAATGCTCAAACACAAGTCCTAAACAGAAAACATTGTATGTTACATTCCAGTGCTACCAAAATAGTGGTTTTGAAAGTCCTTATTTTCTAATACTACTATGTGTAATTTTGAGTCATTTAGATAGCAACAGTTAAATGTTTTATAGATTGTTTGGAAGTATTAAAATGTGAAGGATTTTTGTTATATAGTGTCTTTCCTATCTTGCTTAATAAAATATAAGTTTAGAATTGTGTATAGAATTAACATGCAAAAATATCAAGTCTCAACTTTATACAGTTAATCTACATTTGTGTATACCCTTCAATTATTTCAAGAGAGGGATACTATTCTTATGCAGGATAAATACAATAAGATATTTTAAATGAATTTTAACTACATCTCTGGCAGTTTCATCTCAATAGTAGTTGTAATTTTATCTCCCAGACCTTATTATAGACTAGCAGCTCTCTATGAAAATTAGTGACAGTGTGAGTGTATTTTAATTCAAAGTTAATCAAGAATGACTGAGTCAAGAGTTAGCTACCCCTGAAAGTAACTCATAATTCAGAATTTAAAATATTACATGTGGAACAATCATGACTATATGCCTTTTACTTTCTCTATCATTATTTAGGTTGTGGGCTTTGGGTCCTTTTCACATCCGTTAACAGTGGGCTTGACTTCAAAGGATTATTTTCTTGAATCTTGAATAATTGCTGAAGACAATTTGAAGATATTTTCAAGATGAAGGAAACTGAAGCACAGAATCACTAGAGTGAAAAAAGAACTTCACAAACAGTGCAGGCTTGATCAATGGCATGGGAAAACAGGCAATACAGTTAGAATTGCTAAGATGGAATTTTAACGTTCAATTAAGGATCTATCTCTAAACTCCTCTGCTTTATCCACCAATCATTCCATATTAAAGATGAAGAATTGTTCCCATTTCACCTTTTGATAAGGAAAAATAGAAATAACAGAAGCAAATACACTTTTGCCCACATTTTTTTCCAAAAAGAATAATTTTTGAAGTCTAAACGTTTGGTGTAAATAAGATGATGTGTTAATATTGTAAAGGAAAGCTAGTTAAGTTTTTGACTGAATAAAGCCAGCATCAATAATTACTAGTAAGACTAAAAATAAGAGCAGTAAAATTGTGTCTAATCAGCTACTAATATCTGGGAAGGATTGAGCCACAGGATCAAAGATGGTATCTTTTAAAAATAGAAGTTGAGTGAATTCGGTCTTCAAATTCTTTCTTTTTATTCATTTATATTTATTTACTCATTAGTATATTCATTCCTTTATTCATGTATTGTTCAAATATATATTGGGTACTTATTATATGCCAAGTTGTTTTTAAAATCACATTCCAAATTCCCGTAAGTCATAATTATTCAGAGATGTATGTTTTTTTTAAAAAAAATTGAACACCTTTAAAAATTATCAAGTCCTTTTATTTCTGTATGCATTAAAGATAAACTTTACTAAATGTTACATGAATAGATTTATAAAGCAGATAAATATTTAATTTCAAATATAACCCTTATATGCAATTATATTTTCCTTAGCACTAAAAATGAATATTTAAGTAATTTATATTAAAAGTGTAATTATTTAACTGCAGATGTATGCCAATGACTTAAATTGTTTAAAGATTATAGCAAAGTTGTTTAAAATTGTCTAATCATGAAGAGTTCACTTAACCACCTGGTTGACACATAAAATTATAGTTAGTTACTAAGGTAGTTCGAGAGAAAGAGAAGAATCTTCAGTAGTGGTTTTGAGGTGTGGTACATTTTATTATAATATACCGGTTATACAGCATTGTGCAGTGCTGCTCATAGTAGAAATAAATTTTCTCTTTGATGTCATCTATTCCCTTGTGTGGCTTACATAACTGAGAATTAGGTGATCACAAAAATAAACAGGCCTATACAGAGCCCATTTATATAAGTCCTGGTTATTTCTCTTCAGTTAAACTTTTAATTATATCCAATTATTTCCTGTTAGTTCATTGAAAAGCCCGACAAATAACCAAGTGACAAATAGCAAGTGTTGCATTTTACAAGTTATTTTTTAGGAAGCATCAAACTAATTGTGAAATTGTCTGCCATTCTTAAAAACAAAAATGTTGTTATTTTTATTTCAGATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAACCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACAGAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTGAGATTTGAACACTGCTTGCTTTGTTAGACTGTGTTCAGTAAGTGAATCCCAGTAGCCTGAAGCAATGTGTTAGCAGAATCTATTTGTAACATTATTATTGTACAGTAGAATCAATATTAAACACACATGTTTTATTATATGGAGTCATTATTTTTAATATGAAATTTAATTTGCAGAGTCCTGAACCTATATAATGGGTTTATTTTAAATGTGATTGTACTTGCAGAATATCTAATTAATTGCTAGGTTAATAACTAAAGAAGCCATTAAATAAATCAAAATTGTAACATGTTTTAGATTTCCCATCTTGAAAATGTCTTCCAAAAATATCTTATTGCTGACTCCATCTATTGTCTTAAATTTTATCTAAGTTCCATTCTGCCAAACAAGTGATACTTTTTTTCTAGCTTTTTTCAGTTTGTTTGTTTTGTTTTTCTTTGAAGTTTTAATTCAGACATAGATTATTTTTTCCCAGTTATTTACTATATTTATTAAGCATGAGTAATTGACATTATTTTGAAATCCTTCTTATGGATCCCAGCACTGGGCTGAACACATAGAAGGAACTTAATATATACTGATTTCTGGAATTGATTCTTGGAGACAGGGATGGTCATTATCCATATACTTCAGGCTCCATAAACATATTTCTTAATTGCCTTCAAATCCCTATTCTGGACTGCTCTATAAATCTAGACAAGAGTATTATATATTTTGATTGATATTTTTTAGATAAAATAAAAGGGAGCTGAAAACTGAATTGCAAACTGAATTTTAAAACTTTATCTCTCTGTGGTTAATTGCAAACACAGATACAAAAATATAGAGAGAGATACAGTTAGTAAAGATGTTAGGTCACCGTTACTAACACTGACATAGAAACAGTTTTGCTCATGAGTTTCAGAATATATGAGTTTGATTTTGCCCATGGATTTTAGAATATTTGATAAACATTTAATGCATTGTACAAATTCTGTGAAAACATATATATAGGATGTGCGAAAAGTCCCTGTGTATCATGTGAAATGGCTTAAAACAGAACACCATAGGTATTCATATCAGTGAATACCATAGGTAGCTGAAAGTGTTTTTTCCTGGGGTCGCCAAGATGAATGCCAAAAGTGATATCATTATTATAAACAATAGCCAGAATAGGTTGGTATAAACCTGGTAGAAAGCCTTGATAAATTGACTTTCTCTCCTCCTGACATCCTGCCACCCCTTTGCTTTGCTGATGCTCATTTGTCCACTAAATTAAACTCAAGCAAGCCCTAGTAAAGTAATAGAATTTGTGGAGTCCTCATTAGTATAGGAAGTTTCCCTGATGTGAGATTAGTAATTAGAGATGTAGCAAAATGAGAAAGAAGTAATATGCTTAGATATTTCATTTTCTCTGAACCTGTATATACAAAATAGGCCATGCGTGTTCAGTAACTATTCACTGCAAGGCACTCTCTAGGTACTTTGGGGGAATTGGAAATTACTCACATAAGGCTATGGATTGTGCCATTTGTCAAAAGACAAAATGACAACAAATTTAGTTTAAAGACCTCAGTCAGCTTTATTTTCTATTCTAGATTTGGACAGTCCTTCATTTCACAAATTGGAGTAAGTGTTCCAATAAGTTGAGCAAAGGAGCTTGGCTTTATAGACCCAAAAAAAGGGCCAAAGGAAGCAGAAACAAAGAACAATAAGAGAATTGGTCATTTCAAAGTTACTTTTCTTGAAAGGTGGGGACAAGGAGACAGAATAATAGAAAAGTCACTGATTGGTTAACATTGGATTAAGAATTAAAACAGAGGAAACTTTAAGATTGAAGTTTGAAACTGACTTGTTTGGGAAATCAGGCTGTCTTCTTTCTTGATTTCTTAGAAGGCCGGATAACAACTGAGTTTTGCTTTGGTGAACATGGGTGACTCCATTTTTACTTTTAGTCTGGTCTGTTGAGGCCTCGTGAGAGAGCTTAATCTAAAACAATGACTTCCTATAATTTTTGTTTGACACATCCAAAGAGGGACTCTAATATTTATTGAGAGCTTATCATATCTTAAGTACTGTTTAAACACTTTTATTTGCTATTACATTTGATCTTATTATAACTCTAAAGGCAGAAATGATTGCTTTTATTTTCCACAATGGAGGA	G	T117624642G	CFTR	NM_000492.4(CFTR):c.3469-2880_3717+2150del	noncoding	Pathogenic
7	117627573	AAACCTACCAAGTC	A	T117627578A	CFTR	NM_000492.4(CFTR):c.3525_3537del:p.Thr1176fs	coding	Pathogenic
7	117627585	TCAAC	T	C117627589A	CFTR	NM_000492.4(CFTR):c.3536_3539del:p.Thr1179fs	coding	Pathogenic/Likely_pathogenic
7	117627591	AAACCATACAAGAATGG	A	A117627592C	CFTR	NM_000492.4(CFTR):c.3539_3554del:p.Lys1180fs	coding	Pathogenic
7	117627650	GA	G	A117627653G	CFTR	NM_000492.4(CFTR):c.3600del:p.Asp1201fs	coding	Pathogenic
7	117627689	C	CA	G117627693A	CFTR	NM_000492.4(CFTR):c.3639dup:p.Asp1214fs	coding	Pathogenic
7	117642444	CT	C	T117642445C	CFTR	NM_000492.4(CFTR):c.3725del:p.Leu1242fs	coding	Pathogenic
7	117642454	GA	G	A117642456C	CFTR	NM_000492.4(CFTR):c.3736del:p.Thr1246fs	coding	Pathogenic
7	117642459	G	GGATCA	G117642466A	CFTR	NM_000492.4(CFTR):c.3741_3745dup:p.Gly1249fs	coding	Pathogenic
7	117642507	AC	A	C117642508T	CFTR	NM_000492.4(CFTR):c.3788del:p.Thr1263fs	coding	Pathogenic
7	117642514	GA	G	A117642515G	CFTR	NM_000492.4(CFTR):c.3795del:p.Glu1266fs	coding	Pathogenic
7	117642531	GGT	G	G117642536C	CFTR	NM_000492.4(CFTR):c.3816_3817del:p.Ser1273fs	coding	Pathogenic
7	117652828	CT	C	T117652834G	CFTR	NM_000492.4(CFTR):c.3874-8del	noncoding	Benign
7	117652851	AT	A	T117652857C	CFTR	NM_000492.4(CFTR):c.3889del:p.Ser1297fs	coding	Pathogenic
7	117652870	G	GA	C117652877A	CFTR	NM_000492.4(CFTR):c.3908dup:p.Asn1303fs	coding	Pathogenic
7	117652907	AGAAATATG	A	T117652912G	CFTR	NM_000492.4(CFTR):c.3944_3951del:p.Ile1315fs	coding	Pathogenic/Likely_pathogenic
7	117660798	GTTTGTTTGTTTTTTGCCCATAGTGCTTATCTCTTTGAACAGTAATTTTCCACTTACTATTTTTCTCCCCTTTTGGACCATAATTTCCTTTAAGGCAGAGCCTCCTGTTACTCATCTTTGAATCTGGGGTCTGTCAGAGTACCTAGAATTTAATAAACTCTCATTAAGAGCCAGTTGAAAGAATATATGACTAAGCAGTCATTTACATCCAAAAGATCCGTAGGAGAATTCTTATCAGCACATGTGATTGGTAACAATAACTTTGTACTTTTCAAAAACAATTACTAATCTATCTTGCTTTCCATTATCTCACCAAAACCTATTAGCATGTCTGGCAGAAAATAGATACTTAATAAATTTCTTAAATGTTTACTGACTTCAATTTTAAGTTTTATTAACTATGTTGACTTTTCTCTAATGAAGATGATTCTAAAAAGCTTTTTACTATACTTCACAGTGAATAAAACAGTGAGATAGGAATATTGCAAAATGTCCCCTGTGTTGGTCAGTCTTAGTGTCATTCATTTTAAAAATTCTGTTCTCTAAATATTGACAGTTATATATAAATTTATGTAATTGTTTACTTCTAATAAAGAATTTCATCTGGGGAAAAACATACTTTGCTCAGCTCTTTGCCACAAGTGCAAAGTCTAAGACAGTCAAATAGCTTTCCTAGTACGGCCTTAGGAACTTAGTATATGACTGGTGTGAATCTAGAGGGAGCATACTGCATTCTGACCAAAATCTCCACCCTGTTACTATGGCCATCACTAACTTCGCAGTATTGCAGTACTTCCTGCTAGCTTAGTTCCCAAGGCAACTTGTGAAGGAAAATTTTTACAAAGCTGTTGTCACACAAAGGTAGTGTTTCAGTTCCTGAGCCCATGTCCTTGGAGTTGCCCAGGCTCCAATAATACTAATAATTACTGTACATTAGGTACTTACCATGTGCCATATTCTGTGGGAGCCGCTTTCCACAAATTATCTCTGGTAATCCTTGTAACAACCCTTTGACATCAATATTATTATTTTCTCCATTTTTTTACATATGAGATAAATGAGACTTAAAATAATGTGCCTGATATCATCAGCAAATGAGCTGAGGAGGGCAGATTCAAAGCTGATTGTGTTTGACTCTAGAGCTGCAGTCTTAAGCCAGACCTTTTCTTGCTGGTTAATTTTACTGAAAAAAAAAAAAAAAAAAAAAAACCCTCAAATACTGCTGATTGATCTAAAGTACTAACATTTCTATCAGTGTTAGGGAAATTTTAATTTTATAATTTGATTTTGTGAGAAATTTATAGCATCTTGAATACTCACATGCAAAGTGATATGTCTTAGATAACATTTTACAATGGCAGAGCTTAAGCCAGTGCTCAGTCATTCATTCATCCTCAAGTTTTGATTCATTTATCATTCATCAAAACTCTGTTTTGTTTGGCCACCCACATTCTAGGAGCTCAGTACATATTTGATAAATGAATGAATTGTTGAGGTTGACAGTTACCCAGGACTGGCATTAGGAACACAGAGCTGAAGAGCACGTTTTTACCCTCAAGAAGCTTACAGTCTAACGAGGGAACTTGCACAAATACTACTATCACTAGGTGCCTGGTTGAATGGCTTAAGAGATGATCAGGGATATTCAGAAGGATATGTCAGGCTCAGCAATGGCATCACTTGAGAGCATCAAGGTGTTTAGGGAACTACAAGATGTTTGGTTCTGCTGGGAATAAGAGTGAAGGGGGCTCCATTTGGATGCCTCATACACCAGGTGAGAGATCTTAGATTTTATTCCACCAGGAGGAGAACTACCATAGGATTTAAAACAGAAATGATATGGTCAAACCTACATCTTAGGAAGATCCCTGGGGTGTTTGTATGGTGGACTTGCAATTTGACTAATTGAGATTTGTAGGATGATTCTTAAGAGATGATGATGACCCAGACTGGGATCACTATAATAGAGTTGGTAAGGAGGAGAATGATTTAAAAAGTAGTTGGAAGAATTCTAGGGATGGAGATAAACATTTGAAAATTATTAACTTATAGGTGGTCATCAATACCCTGAAAATGACTGGGATCTCAGAGGAGAGTCTGGAGAGTTGGAAATGACAAAGACTAATATTCAAGGGGGCAGGAAGAGGGAGAGTTGTTCACACATGACAATAGGAAGAAATGGCCATAGAGTGTGTGGTTTCTCTCAAGCCAAGGAATAGATGTTTTAAGAAAGGAAAATTCTTGTGGTGGGAAGCAGTAGAGATGACAGATACACATTAATTTCTTGAGATTTCTAGATGACTAAATGGGCAGATGTTGAATGATAGCTAAAGGAGAACCCAGAAACAAGGGAGGGATTTTGTTTTTGTTTTTTAAAAAAGATAGACCATAGCAGCTTCATAGACTGAAACAATAAAAAAGTTGAAGGCACAAAGAAAGACACAGGTCCTCTAACTCCCTGCCCAGTGCCCTTTATTCATATTCTCAGCACTTGTATTTCTAAGTTTTATGTTTGAGTCTTCGGGGATACATCAGAGTAGTCCCCCTTGTCTAATAAATGTGTTTACATTTCCTGCCATACCAGAAACCCTTCTCAAACTTTAATGAATTTCTACAAGGTGAGATTACTTTAATGAGAAACCAACCAAGGAAAGGAGTATCATCTGCAATATACTTTCAAATGTTTTTTGCTTGTTTGTTTCTTGTCCAGCTAAAAAAAAAAAAAAAAAACAAGCCATTGGTCCTAACACAACTTTCATATTCTACCCCAATATCAAAGAGGCTTAAAATCTCCTGGTCGTGTGATGGGCACACAGTTAATTTTTTGTGAACAAACACAGTGTTATGGGCCATTTCTGAATTTATCTCTGAAATCATAAGATTCTTTCTGAGCCATTATCTCATTCTATATTACAGTCAGGTGGAGCCCATCTTACCTCCTCATACTAAATTCTAGACTTCTCAAGGGCAGGAGACAATCATCTGTATATCTCTTTGGCCTTCATACACTCAGGAGTACTTGCCAAAAATAAACATTTAATGCACATTTATTTGAATAATTGATAAGATCCAATACTTCAATAACTTTGTCATATTTTTATAGAATGGGTTTCTATATCTCATTTGCATTTTCAAACTTTACTTTTACTGTCTAGCTTTAAAAAAAAAGCCTTTGACTCTAATACAGCCCTCATATTCTACCCCAATATCTAAGAGGCTTTATATCTCCTAGTGTTGTACCACTATTTTAACTCCAGTATTTTTTACTTCATAGTTTTACCTATTTGTTACAGTTAGTTTTTATGAATTCAAGAGATGAATAGCAATTTTCCATATGTAATTTAAAAAACCCCACAGTTGACTATTTTATGCTATCTTTTGTCCTCAGTCATGACAGAGTAGAAGATGGGAGGTAGCACCAAGGATGATGTCATACCTCCATCCTTTATGCTACATTCTATCTTCTGTCTACATAAGATGTCATACTAGAGGGCATATCTGCAATGTATACATATTATCTTTTCCAGCATGCATTCAGTTGTGTTGGAATAATTTATGTACACCTTTATAAACGCTGAGCCTCACAAGAGCCATGTGCCACGTATTGTTTTCTTACTACTTTTTGGGATACCTGGCACGTAATAGACACTCATTGAAAGTTTCCTAATGAATGAAGTACAAAGATAAAACAAGTTATAGACTGATTCTTTTGAGCTGTCAAGGTTGTAAATAGACTTTTGCTCAATCAATTCAAATGGTGGCAGGTAGTGGGGGTAGAGGGATTGGTATGAAAAACATAAGCTTTCAGAACTCCTGTGTTTATTTTTAGAATGTCAACTGCTTGAGTGTTTTTAACTCTGTGGTATCTGAACTATCTTCTCTAACTGCAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAACTTTACTTAAGATCTCATTGCCCTTGTAATTCTTGATAACAATCTCACATGTGATAGTTCCTGCAAATTGCAACAATGTACAAGTTCTTTTCAAAAATATGTATCATACAGCCATCCAGCTTTACTCAAAATAGCTGCACAAGTTTTTCACTTTGATCTGAGCCATGTGGTGAGGTTGAAATATAGTAAATCTAAAATGGCAGCATATTACTAAGTTATGTTTATAAATAGGATATATATACTTTTTGAGCCCTTTATTTGGGGACCAAGTCATACAAAATACTCTACTGTTTAAGATTTTAAAAAAGGTCCCTGTGATTCTTTCAATAACTAAATGTCCCATGGATGTGGTCTGGGACAGGCCTAGTTGTCTTACAGTCTGATTTATGGTATTAATGACAAAGTTGAGAGGCACATTTCATTTTTCTAGCCATGATTTGGGTTCAGGTAGTACCTTTCTCAACCACCTTCTCACTGTTCTTAAAAAAACTGTCACATGGCCAGGCACAGTGGCTTACATCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGGGGATTACTTGAGGCCAGGAATTCAAGACCAGCCCAGGCAACATAGTGAGGCCCCATCTGTCTTTATTAAAACAAAACAAAACTGTCACAGCTTCTTTCAAGTGATGTTTACAAATTCCCTATGGTTTAGTCACAAGGAAGTTCTGAGGATGATGTATCACGTCATTTCTGTTCAGGCTTTTGAGCCTCCTGGAGGTAAATGGTTTCCTTACTGAAGGCTTGTTATTACCATGATTATCACTAAGCTTGAAGTAACAAATTAGGGGGGCAGACTCACAACCTCTTGCCCTGCCATGGACAAGTTCAAGAATCTAAGTAAAGTCCTCTATTGTCTGATCTTGGATTTGCTCAACCTGAACAAGCCAAGGAGGTGTATTAAACTCAGGCACATCCTGACCAATTTGGAATTCTTAAGCTTCAGATCACTGTGGAAGAGGCTCAACTCTTTATGGTGCTGTAGACTTACGCTCATTTTCTAGGTAATTTATAAGGGACCTAATATTTTGTTTTCAAAGCAACTTCAGTTCTACTAAACCTCCCTGAAGAATCTTCCAGCTGCTGAGTAGAAAATCACAACTAATTTCACAGATGGTAGAACCTCCTTAGAGCAAAAGGACACAGCAGTTAAATGTGACATACCTGATTGTTCAAAATGCAAGGCTCTGGACATTGCATTCTTTGACTTTTATTTTCCTTTGAGCCTGTGCCAGTTTCTGTCCCTGCTCTGGTCTGACCTGCCTTCTGTCCCAGATCTCACTAACAGCCATTTCCCTAGGTCATAGAAGAGAACAAAGTGCGGCAGTACGATTCCATCCAGAAACTGCTGAACGAGAGGAGCCTCTTCCGGCAAGCCATCAGCCCCTCCGACAGGGTGAAGCTCTTTCCCCACCGGAACTCAAGCAAGTGCAAGTCTAAGCCCCAGATTGCTGCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTTTAGAGAGCAGCATAAATGTTGACATGGGACATTTGCTCATGGAATTGGAGCTCGTGGGACAGTCACCTCATGGAATTGGAGCTCGTGGAACAGTTACCTCTGCCTCAGAAAACAAGGATGAATTAAGTTTTTTTTTAAAAAAGAAACATTTGGTAAGGGGAATTGAGGACACTGATATGGGTCTTGATAAATGGCTTCCTGGCAATAGTCAAATTGTGTGAAAGGTACTTCAAATCCTTGAAGATTTACCACTTGTGTTTTGCAAGCCAGATTTTCCTGAAAACCCTTGCCATGTGCTAGTAATTGGAAAGGCAGCTCTAAATGTCAATCAGCCTAGTTGATCAGCTTATTGTCTAGTGAAACTCGTTAATTTGTAGTGTTGGAGAAGAACTGAAATCATACTTCTTAGGGTTATGATTAAGTAATGATAACTGGAAACTTCAGCGGTTTATATAAGCTTGTATTCCTTTTTCTCTCCTCTCCCCATGATGTTTAGAAACACAACTATATTGTTTGCTAAGCATTCCAACTATCTCATTTCCAAGCAAGTATTAGAATACCACAGGAACCACAAGACTGCACATCAAAATATGCCCCATTCAACATCTAGTGAGCAGTCAGGAAAGAGAACTTCCAGATCCTGGAAATCAGGGTTAGTATTGTCCAGGTCTACCAAAAATCTCAATATTTCAGATAATCACAATACATCCCTTACCTGGGAAAGGGCTGTTATAATCTTTCACAGGGGACAGGATGGTTCCCTTGATGAAGAAGTTGATATGCCTTTTCCCAACTCCAGAAAGTGACAAGCTCACAGACCTTTGAACTAGAGTTTAGCTGGAAAAGTATGTTAGTGCAAATTGTCACAGGACAGCCCTTCTTTCCACAGAAGCTCCAGGTAGAGGGTGTGTAAGTAGATAGGCCATGGGCACTGTGGGTAGACACACATGAAGTCCAAGCATTTAGATGTATAGGTTGATGGTGGTATGTTTTCAGGCTAGATGTATGTACTTCATGCTGTCTACACTAAGAGAGAATGAGAGACACACTGAAGAAGCACCAATCATGAATTAGTTTTATATGCTTCTGTTTTATAATTTTGTGAAGCAAAATTTTTTCTCTAGGAAATATTTATTTTAATAATGTTTCAAACATATATAACAATGCTGTATTTTAAAAGAATGATTATGAATTACATTTGTATAAAATAATTTTTATATTTGAAATATTGACTTTTTATGGCACTAGTATTTCTATGAAATATTATGTTAAAACTGGGACAGGGGAGAACCTAGGGTGATATTAACCAGGGGCCATGAATCACCTTTTGGTCTGGAGGGAAGCCTTGGGGCTGATGCAGTTGTTGCCCACAGCTGTATGATTCCCAGCCAGCACAGCCTCTTAGATGCAGTTCTGAAGAAGATGGTACCACCAGTCTGACTGTTTCCATCAAGGGTACACTGCCTTCTCAACTCCAAACTGACTCTTAAGAAGACTGCATTATATTTATTACTGTAAGAAAATATCACTTGTCAATAAAATCCATACATTTGTGTGAAACTTTGTTGTTTTCAGATGCGTTCACTTGTCATGTTTCATCAGTCTCTCACTCCAATTTCTAAGCTTCATGGAACATGAAACACGAATCTGTCTTTTAGATATAGCCTCTTTTGAGAATTCACATGAATTAGAACACACATTTTTAGTTATCTGTTTAAACTATGGTAAAATATACATAACATAAAATTTTCCATTTTAACCATTTTAAAGTTCAGTTCAGTGTCATTAGGTACATTCACATGGTTGTGCAAATATCACCATCATCCTTCCACAGAATTTTTTTCTTGCAAAACTGAAACTCTTTTTACCCGTTAGTCAATAATCCCGCATTTATCTTTCCTCTAATGCCTGGCAACCACCATTTTACTTTCTGTCTCTGATTTTGACTACTCGAAGGACCTAGGAGTGGGATCATACAGTATTTGTATTTTTGTGCTTATTTCATCTAGCATAATGTCTTCAAGCCTCATCCATGTTGCAACATGGGTCAATTTTCTTCCTTCTTAAGGTTGAATAATATTCATTATAGAGTAGTCCCCCCTTATCCTTGGGGAATATGTTCCAAGACCCCCAATGGATGCCTGAAATCACTGATAGCACTGAACCTGATTACTGTGTTTATTCCTATACATACACACATACATATGATAACATTTAATTTATAAATTAAGCACAGTAATAGATTAACAACAATAATCATAAAATAGAACAATTATAACAATATATTATGACACGAGCGATACAAATGTGGTCTCTCTCTTTCTCAAAATATCTCATTATACTGTGCCACAGGTAACTGAAACCACAGAGAGCAAAACCTTGGATAGGGGGACCACTCTATAAATATGTACCACATTTTTCCTCACCCATTCATCCATCACTGGCTACTTGGTTTGCTTCCACTTTTTGGATATAGTGAATAATGCTTCTATAAATATGGGTGTACAAATGTTTCTTCATGTCCCTGCTTTCATTACTTAGGATATGTTTGAAGTTATTTTTATTTTTAAATGGAGGCTTATAGAACACAAAAGATTTATATTCTGCAAGTGTCCATCTATTTCTTTTAAAGCTTATTCAAAAAGTGGTAGCTATCTCATAGCTCTTGGTAAGTTAAAAATCTTCATCAACGAAAATACTATTTCTGCGTTGGCACCTGCATGGATTTTCTTTGTCCAAATCCCTCTTTTTAATTGATGAGGCTTCTTTAGTTCCTTTTTTTCTTCCTTGTTGAGCTTCTTCATGAAATGTGCAGTTGCTAGCATGTGGTGGACGGACTGCAGATCCCTACTGAATGCCAGGCCCTCCGGCCCTGTGTTCTCTTTCTTGGAGAGGTTTGTTTTCACACGTAACCCCAAGAGGGCAGTCTCAGAGCGTGTTCTAGTCTAGTTCTTTTTTTAAAATTACTAAACTTTATTTTTTTTAGGGCAGTTTTAGGTTCCCATCAAAATTGAACAAAAAGTATGGAGAGTTCACATATAACTTCTCCATACATGATAGCCTCCCCCATTCAACATCCCACACTAAAGTAGTACATTTGTTACAACTGTGAAAGCAAATAGAATTTCAAGACCCCAAGCTCACTA	TAACT	G117660798T	CFTR	NC_000007.13:g.117300852_117310305delinsTAACT	noncoding	Pathogenic
7	117664686	A	AGGTTG	C117664694T	CFTR	NM_000492.3(CFTR):c.3965_3969dup	noncoding	Pathogenic
7	117664699	AT	A	T117664700C	CFTR	NM_000492.4(CFTR):c.3976del:p.Ser1326fs	coding	Pathogenic
7	117664710	AAC	A	C117664712G	CFTR	NM_000492.4(CFTR):c.3988_3989del:p.Gln1330fs	coding	Pathogenic/Likely_pathogenic
7	117664758	T	TC	T117664761C	CFTR	NM_000492.4(CFTR):c.4036dup:p.Leu1346fs	coding	Pathogenic
7	117664795	TAG	AA	T117664795A	CFTR	NM_000492.4(CFTR):c.4071_4073delinsAA:p.Arg1358fs	coding	Pathogenic
7	117664800	CTG	C	G117664802T	CFTR	NM_000492.4(CFTR):c.4078_4079del:p.Val1360fs	coding	Pathogenic
7	117665450	C	CT	C117665455T	CFTR	NM_000492.4(CFTR):c.4137-5dup	noncoding	Benign
7	117666871	CT	C	T117666873C	CFTR	NM_000492.4(CFTR):c.4243-35del	noncoding	Benign/Likely_benign
7	117667004	GT	G	T117667005G	CFTR	NM_000492.4(CFTR):c.4340del:p.Val1447fs	coding	Pathogenic
7	117667051	CCA	C	C117667052G	CFTR	NM_000492.4(CFTR):c.4387_4388del:p.Gln1463fs	coding	Pathogenic
7	117667232	GT	G	T117667241A	CFTR	NM_000492.4(CFTR):c.*133del	noncoding	Benign/Likely_benign
7	120747664	AT	A	T120747673C	KCND2	NM_012281.3(KCND2):c.1716-8del	noncoding	Benign
7	120806579	GT	G	T120806580G	TSPAN12	NM_012338.4(TSPAN12):c.581del:p.His194fs	coding	Pathogenic
7	120806613	AC	A	C120806614A	TSPAN12	NM_012338.4(TSPAN12):c.547del:p.Val183fs	coding	Pathogenic
7	120810470	TG	T	G120810471A	TSPAN12	NM_012338.4(TSPAN12):c.460del:p.Gln154fs	coding	Pathogenic/Likely_pathogenic
7	120810624	TCACA	T	A120810652G	TSPAN12	NM_012338.4(TSPAN12):c.361-84TG[13]	noncoding	Benign
7	120810624	TCA	T	A120810654G	TSPAN12	NM_012338.4(TSPAN12):c.361-84TG[14]	noncoding	Benign
7	120810624	T	TCACA	G120810656A	TSPAN12	NM_012338.4(TSPAN12):c.361-84TG[17]	noncoding	Benign
7	120810624	T	TCA	G120810656A	TSPAN12	NM_012338.4(TSPAN12):c.361-84TG[16]	noncoding	Benign
7	120815787	A	AG	C120815789G	TSPAN12	NM_012338.4(TSPAN12):c.301dup:p.Leu101fs	coding	Pathogenic
7	120838882	AAAGT	A	A120838887C	TSPAN12	NM_012338.4(TSPAN12):c.176_179del:p.Tyr59fs	coding	Pathogenic
7	120840117	GA	G	A120840123G	TSPAN12	NM_012338.4(TSPAN12):c.67-9del	noncoding	Benign
7	122086119	G	GA	T122086127A	AASS	NM_005763.4(AASS):c.2076dup:p.Pro693fs	coding	Pathogenic
7	122092724	CA	C	A122092736T	AASS	NM_005763.4(AASS):c.1875+118del	noncoding	Benign
7	122092724	C	CA	T122092737A	AASS	NM_005763.4(AASS):c.1875+107dup	noncoding	Benign
7	122098872	T	TA	G122098897A	AASS	NM_005763.4(AASS):c.1407-30dup	noncoding	Benign
7	122113923	C	CA	G122113941A	AASS	NM_005763.4(AASS):c.1044-220dup	noncoding	Benign
7	122302388	GA	G	A122302398T	FEZF1	NM_001024613.4(FEZF1):c.1070-34del	noncoding	Benign
7	122302778	G	GACA	T122302782A	FEZF1	NM_001024613.4(FEZF1):c.1069+18_1069+20dup	noncoding	Benign
7	122303472	GGGAA	G	A122303536G	FEZF1	NM_001024613.4(FEZF1):c.801+101TTCC[15]	noncoding	Benign
7	122303472	GGGAAGGAA	G	A122303532G	FEZF1	NM_001024613.4(FEZF1):c.801+101TTCC[14]	noncoding	Benign
7	122303472	GGGAAGGAAGGAA	G	A122303528G	FEZF1	NM_001024613.4(FEZF1):c.801+101TTCC[13]	noncoding	Benign
7	122303472	GGGAAGGAAGGAAGGAA	G	A122303524G	FEZF1	NM_001024613.4(FEZF1):c.801+101TTCC[12]	noncoding	Benign
7	122303536	A	AGGAGGGAG	A122303548G	FEZF1	NM_001024613.4(FEZF1):c.801+93CTCC[4]	noncoding	Benign
7	122304791	C	CT	C122304804T	FEZF1	Single_allele	noncoding	Benign
7	122304810	CA	C	A122304811G	FEZF1	Single_allele	noncoding	Benign
7	123117451	A	AT	C123117459T	SLC13A1	NM_022444.4(SLC13A1):c.1650+13dup	noncoding	Benign
7	123662826	CCT	C	C123662829G	LMOD2	NM_207163.3(LMOD2):c.1243_1244del:p.Leu415fs	coding	Pathogenic
7	124824090	CA	C	A124824097G	POT1	NM_015450.3(POT1):c.1793-17del	noncoding	Benign
7	124827220	C	CATGAGATAGGCTTCTAGTACTCCTGTTCCATCATCAAGTGT	A124827263T	POT1	NM_015450.3(POT1):c.1639_1679dup:p.Met560delinsIleHisLeuMetMetGluGlnGluTyrTer	coding	Pathogenic
7	124827227	T	TA	G124827229A	POT1	NM_015450.3(POT1):c.1672dup:p.Tyr558fs	coding	Pathogenic
7	124827315	GA	G	A124827322G	POT1	NM_015450.3(POT1):c.1595-11del	noncoding	Benign
7	124827315	G	GA	G124827323A	POT1	NM_015450.3(POT1):c.1595-11dup	noncoding	Benign/Likely_benign
7	124829254	CT	C	T124829256C	POT1	NM_015450.3(POT1):c.1593del:p.Ala532fs	coding	Pathogenic
7	124829268	GA	G	A124829270G	POT1	NM_015450.3(POT1):c.1579del:p.Ser527fs	coding	Pathogenic
7	124829331	C	CA	C124829333A	POT1	NM_015450.3(POT1):c.1516dup:p.Cys506fs	coding	Pathogenic
7	124829353	TA	T	A124829357G	POT1	NM_015450.3(POT1):c.1506-12del	noncoding	Benign
7	124835242	TAAACA	T	C124835271T	POT1	NM_015450.3(POT1):c.1505+7TGTTT[5]	noncoding	Benign
7	124835242	T	TAAACA	T124835276C	POT1	NM_015450.3(POT1):c.1505+7TGTTT[7]	noncoding	Benign
7	124835280	CAT	C	T124835282G	POT1	NM_015450.3(POT1):c.1502_1503del:p.Tyr501fs	coding	Pathogenic
7	124835369	C	CA	T124835370A	POT1	NM_015450.3(POT1):c.1414_1415insT:p.Ser472fs	coding	Pathogenic
7	124835370	TATT	AAAAA	T124835370A	POT1	NM_015450.3(POT1):c.1411_1414delinsTTTTT:p.Asn471fs	coding	Pathogenic
7	124835401	ACT	A	C124835402G	POT1	NM_015450.3(POT1):c.1381_1382del:p.Leu460_Ser461insTer	coding	Pathogenic
7	124835403	TGA	T	A124835405T	POT1	NM_015450.3(POT1):c.1379_1380del:p.Leu460fs	coding	Pathogenic
7	124841019	A	AT	C124841025T	POT1	NM_015450.3(POT1):c.1322dup:p.Asn441fs	coding	Pathogenic
7	124841041	AC	A	C124841042T	POT1	NM_015450.3(POT1):c.1300del:p.Lys433_Val434insTer	coding	Pathogenic
7	124842818	TTTAGG	T	T124842819G	POT1	NM_015450.3(POT1):c.1147_1151del:p.Pro383fs	coding	Pathogenic
7	124842862	TA	T	A124842863T	POT1	NM_015450.3(POT1):c.1107del:p.Ser368_Tyr369insTer	coding	Pathogenic
7	124842898	GA	G	A124842899G	POT1	NM_015450.3(POT1):c.1071del:p.Gln358fs	coding	Pathogenic
7	124842898	G	GA	G124842900A	POT1	NM_015450.3(POT1):c.1071dup:p.Gln358fs	coding	Pathogenic/Likely_pathogenic
7	124842903	GCT	CC	G124842903C	POT1	NM_015450.3(POT1):c.1065_1067delinsGG:p.Ala356fs	coding	Pathogenic
7	124842904	C	CT	G124842910T	POT1	NM_015450.3(POT1):c.1065dup:p.Ala356fs	coding	Pathogenic/Likely_pathogenic
7	124842973	AT	A	T124842978A	POT1	NM_015450.3(POT1):c.1007-11del	noncoding	Benign
7	124846992	C	CCA	G124846995C	POT1	NM_015450.3(POT1):c.954_955dup:p.Gly319fs	coding	Pathogenic
7	124851933	AT	A	T124851936G	POT1	NM_015450.3(POT1):c.887del:p.Asn296fs	coding	Pathogenic
7	124851935	TTGCAGATTCTAAA	T	G124851937C	POT1	NM_015450.3(POT1):c.873_885del:p.Asp291fs	coding	Pathogenic
7	124852991	CAG	C	A124852994T	POT1	NM_015450.3(POT1):c.848_849del:p.Asn282_Ser283insTer	coding	Pathogenic
7	124853059	AAACTT	A	T124853063A	POT1	NM_015450.3(POT1):c.777_781del:p.Leu259fs	coding	Pathogenic
7	124853096	G	GT	A124853097T	POT1	NM_015450.3(POT1):c.744_745insA:p.Gln249fs	coding	Pathogenic
7	124853121	TC	T	C124853122T	POT1	NM_015450.3(POT1):c.719del:p.Arg240fs	coding	Pathogenic
7	124853140	TA	T	A124853146T	POT1	NM_015450.3(POT1):c.703-3del	noncoding	Benign
7	124858967	CT	C	T124858969G	POT1	NM_015450.3(POT1):c.691del:p.Arg231fs	coding	Pathogenic
7	124859095	CCT	C	C124859096G	POT1	NM_015450.3(POT1):c.562_563del:p.Arg188fs	coding	Pathogenic
7	124863521	GAA	G	A124863522G	POT1	NM_015450.3(POT1):c.373_374del:p.Phe125fs	coding	Pathogenic
7	124863566	C	CA	G124863570A	POT1	NM_015450.3(POT1):c.329dup:p.Leu110fs	coding	Pathogenic
7	124863577	CA	C	A124863580C	POT1	NM_015450.3(POT1):c.318del:p.Phe106fs	coding	Pathogenic
7	124863610	T	TAG	C124863612G	POT1	NM_015450.3(POT1):c.285_286insCT:p.Ile96fs	coding	Pathogenic
7	124863613	CCT	C	C124863614G	POT1	NM_015450.3(POT1):c.281_282del:p.Gln94fs	coding	Pathogenic/Likely_pathogenic
7	124863615	TGA	T	A124863617T	POT1	NM_015450.3(POT1):c.279_280del:p.Gln94fs	coding	Pathogenic
7	124863637	G	GA	T124863640A	POT1	NM_015450.3(POT1):c.258dup:p.Gln87fs	coding	Pathogenic
7	124870941	A	AT	A124870947T	POT1	NM_015450.3(POT1):c.224dup:p.Asn75fs	coding	Pathogenic
7	124870953	T	TA	T124870955A	POT1	NM_015450.3(POT1):c.212dup:p.Ile72fs	coding	Pathogenic
7	124870974	TC	T	C124870976A	POT1	NM_015450.3(POT1):c.191del:p.Gly64fs	coding	Pathogenic
7	124870983	G	GTTTAAACTAA	A124870984T	POT1	NM_015450.3(POT1):c.182_183insTTAGTTTAAA:p.Leu61_Phe62insTer	coding	Pathogenic
7	124871004	A	AT	G124871008T	POT1	NM_015450.3(POT1):c.161dup:p.Asn54fs	coding	Pathogenic/Likely_pathogenic
7	124871018	CA	C	A124871020T	POT1	NM_015450.3(POT1):c.147del:p.Ile49fs	coding	Pathogenic/Likely_pathogenic
7	124892331	CCACCCTTAAGTTGATT	C	C124892334G	POT1	NM_015450.3(POT1):c.43_58del:p.Asn15fs	coding	Pathogenic
7	124897164	C	CCAAAGACA	T124897173C	POT1	NM_015450.3(POT1):c.2_9dup:p.Val4fs	noncoding	Pathogenic
7	124897223	AAAAG	A	A124897230C	POT1	NM_015450.3(POT1):c.-39-15_-39-12del	noncoding	Benign
7	124897393	TA	T	A124897403G	POT1	NM_015450.3(POT1):c.-39-182del	noncoding	Benign
7	124898382	GA	G	A124898392G	POT1	NM_015450.3(POT1):c.-153-9del	noncoding	Benign
7	127612934	A	AGGAT	A127612979G	PAX4	NM_001366110.1(PAX4):c.715+44ATCC[12]	noncoding	Benign
7	127612934	AGGAT	A	G127612975A	PAX4	NM_001366110.1(PAX4):c.715+44ATCC[10]	noncoding	Benign
7	127613660	A	AG	C127613661G	PAX4	NM_001366110.1(PAX4):c.562+95_562+96insC	noncoding	Benign
7	128254651	TG	T	G128254657T	LEP	NM_000230.3(LEP):c.398del:p.Gly133fs	coding	Pathogenic
7	128394435	AC	A	C128394440A	IMPDH1	NM_000883.4(IMPDH1):c.1694+20del	noncoding	Benign
7	128395076	AC	A	C128395083A	IMPDH1	NM_000883.4(IMPDH1):c.1406-44del	noncoding	Benign
7	128400314	TC	T	C128400318T	IMPDH1	NM_000883.4(IMPDH1):c.786+18del	noncoding	Benign
7	128400553	T	TG	A128400559G	IMPDH1	NM_000883.4(IMPDH1):c.580-15dup	noncoding	Benign
7	128773636	TAA	T	A128773638G	OPN1SW	NM_001385125.1(OPN1SW):c.918+11_918+12del	noncoding	Benign
7	128830259	CG	C	G128830263C	FLNC	Single_allele	noncoding	Benign
7	128830606	T	TAGCCCCGGCCGCACCCCC	G128830630C	FLNC	NM_001458.5(FLNC):c.-26_-9dup	noncoding	Benign/Likely_benign
7	128830783	A	AT	C128830784T	FLNC	NM_001458.5(FLNC):c.146_147insT:p.Leu50fs	coding	Pathogenic
7	128830792	G	GC	G128830794C	FLNC	NM_001458.5(FLNC):c.156dup:p.Val53fs	coding	Pathogenic
7	128830897	AT	A	T128830898C	FLNC	NM_001458.5(FLNC):c.261del:p.Pro88fs	coding	Pathogenic
7	128830973	CA	C	A128830975G	FLNC	NM_001458.5(FLNC):c.338del:p.Lys113fs	coding	Pathogenic
7	128831106	C	CT	G128831107T	FLNC	NM_001458.5(FLNC):c.352+117_352+118insT	noncoding	Benign
7	128835458	A	AG	C128835460G	FLNC	NM_001458.5(FLNC):c.486dup:p.Gln163fs	coding	Pathogenic
7	128835460	C	CAGCG	G128835465A	FLNC	NM_001458.5(FLNC):c.488_491dup:p.Leu165fs	coding	Pathogenic
7	128835501	GC	G	C128835504A	FLNC	NM_001458.5(FLNC):c.531del:p.Ile178fs	coding	Pathogenic
7	128835534	CG	C	G128835536C	FLNC	NM_001458.5(FLNC):c.563del:p.Gly188fs	coding	Pathogenic
7	128835564	CTG	C	T128835565C	FLNC	NM_001458.5(FLNC):c.592_593del:p.Cys198fs	coding	Pathogenic
7	128835568	G	GC	G128835574C	FLNC	NM_001458.5(FLNC):c.600dup:p.Gly201fs	coding	Pathogenic
7	128837213	CG	C	G128837216A	FLNC	NM_001458.5(FLNC):c.658del:p.Glu220fs	coding	Pathogenic
7	128837228	CA	C	A128837229G	FLNC	NM_001458.5(FLNC):c.671del:p.Gln224fs	coding	Pathogenic
7	128837474	AG	A	G128837476C	FLNC	NM_001458.5(FLNC):c.778del:p.Ala260fs	coding	Pathogenic
7	128837490	TG	T	G128837492T	FLNC	NM_001458.5(FLNC):c.794del:p.Gly265fs	coding	Pathogenic
7	128837498	CT	C	T128837499G	FLNC	NM_001458.5(FLNC):c.801del:p.Val268fs	coding	Pathogenic
7	128838328	T	TG	C128838331G	FLNC	NM_001458.5(FLNC):c.1111dup:p.Ala371fs	coding	Pathogenic
7	128838423	AC	A	C128838424T	FLNC	NM_001458.5(FLNC):c.1205del:p.Thr402fs	coding	Pathogenic
7	128838650	CG	C	G128838652C	FLNC	NM_001458.5(FLNC):c.1260del:p.Arg421fs	coding	Pathogenic
7	128838665	GA	G	A128838666G	FLNC	NM_001458.5(FLNC):c.1274del:p.Glu425fs	coding	Pathogenic
7	128840071	AG	A	G128840074T	FLNC	NM_001458.5(FLNC):c.1463del:p.Gly488fs	coding	Pathogenic
7	128840107	TG	T	G128840108T	FLNC	NM_001458.5(FLNC):c.1497del:p.Phe500fs	coding	Pathogenic
7	128840113	C	CCA	A128840116C	FLNC	NM_001458.5(FLNC):c.1503_1504dup:p.Lys502fs	coding	Pathogenic
7	128840665	TC	T	C128840668T	FLNC	NM_001458.5(FLNC):c.1670del:p.Pro557fs	coding	Pathogenic
7	128840688	G	GC	A128840695C	FLNC	NM_001458.5(FLNC):c.1676+20dup	noncoding	Benign
7	128840736	ACT	A	C128840737G	FLNC	NM_001458.5(FLNC):c.1676+63_1676+64del	noncoding	Benign
7	128840739	GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT	G	G128840740T	FLNC	NM_001458.5(FLNC):c.1676+66_1677-63del	noncoding	Benign
7	128840905	CT	C	T128840906G	FLNC	NM_001458.5(FLNC):c.1749del:p.Gly584fs	coding	Pathogenic
7	128841320	TTG	T	T128841321C	FLNC	NM_001458.5(FLNC):c.1965_1966del:p.Ala656fs	coding	Pathogenic/Likely_pathogenic
7	128841343	CCTGA	C	A128841347C	FLNC	NM_001458.5(FLNC):c.1991_1994del:p.Asp664fs	coding	Pathogenic
7	128841493	ATC	A	T128841494G	FLNC	NM_001458.5(FLNC):c.2048_2049del:p.Ile683fs	coding	Pathogenic
7	128842605	CG	C	G128842608T	FLNC	NM_001458.5(FLNC):c.2299del:p.Arg766_Val767insTer	coding	Pathogenic
7	128843281	GC	G	C128843282A	FLNC	NM_001458.5(FLNC):c.2604del:p.Ser868fs	coding	Pathogenic
7	128843506	GTTGTGCGGGAC	G	G128843509T	FLNC	NM_001458.5(FLNC):c.2743_2753del:p.Val914_Val915insTer	coding	Pathogenic
7	128843520	T	TC	G128843521C	FLNC	NM_001458.5(FLNC):c.2754_2755insC:p.Glu919fs	coding	Pathogenic
7	128843795	G	GGGCAACAT	G128843808A	FLNC	NM_001458.5(FLNC):c.2816_2823dup:p.Val942fs	noncoding	Pathogenic
7	128843829	GA	G	A128843830C	FLNC	NM_001458.5(FLNC):c.2846del:p.Asp949fs	coding	Pathogenic
7	128843885	CA	C	A128843889T	FLNC	NM_001458.5(FLNC):c.2905del:p.Ile969fs	coding	Pathogenic
7	128844092	CT	C	T128844093C	FLNC	NM_001458.5(FLNC):c.3019del:p.Ser1007fs	coding	Pathogenic
7	128844683	A	AG	T128844687G	FLNC	NM_001458.5(FLNC):c.3221dup:p.Gly1075fs	coding	Pathogenic
7	128845159	GGGCA	G	G128845160T	FLNC	NM_001458.5(FLNC):c.3695_3698del:p.Gly1232fs	coding	Pathogenic
7	128845164	TC	T	C128845167G	FLNC	NM_001458.5(FLNC):c.3702del:p.Val1235fs	coding	Pathogenic
7	128845173	CA	C	A128845176T	FLNC	NM_001458.5(FLNC):c.3711del:p.Lys1237fs	coding	Pathogenic
7	128845866	GAGAGGAGGGGA	G	G128845885A	FLNC	NM_001458.5(FLNC):c.3791-105_3791-95del	noncoding	Benign
7	128846053	GC	G	C128846054A	FLNC	NM_001458.5(FLNC):c.3855del:p.Asn1286fs	coding	Pathogenic
7	128846094	AAGAC	A	G128846100C	FLNC	NM_001458.5(FLNC):c.3901_3904del:p.Asp1301fs	coding	Pathogenic
7	128846198	T	TGGGCAGGTGGGCAGGGCC	A128846204G	FLNC	NM_001458.5(FLNC):c.3964+40_3964+41insGGTGGGCAGGGCCGGGCA	noncoding	Benign
7	128846383	TC	T	C128846386A	FLNC	NM_001458.5(FLNC):c.4050del:p.Thr1351fs	coding	Pathogenic
7	128846836	GT	A	G128846836A	FLNC	NM_001458.5(FLNC):c.4219_4220delinsA:p.Val1407fs	coding	Pathogenic
7	128846886	C	CG	C128846893G	FLNC	NM_001458.5(FLNC):c.4275dup:p.Arg1426fs	coding	Pathogenic
7	128846911	CAG	C	A128846918T	FLNC	NM_001458.5(FLNC):c.4288+7AG[3]	noncoding	Benign
7	128848050	AC	A	C128848052A	FLNC	NM_001458.5(FLNC):c.4564del:p.Gln1522fs	coding	Pathogenic
7	128848661	GA	G	A128848662G	FLNC	NM_001458.5(FLNC):c.4682del:p.Glu1561fs	coding	Pathogenic
7	128848807	GC	G	C128848810A	FLNC	NM_001458.5(FLNC):c.4755del:p.Lys1586fs	coding	Pathogenic
7	128849197	TG	T	G128849199C	FLNC	NM_001458.5(FLNC):c.4946del:p.Gly1649fs	coding	Pathogenic
7	128850467	G	GA	G128850471A	FLNC	NM_001458.5(FLNC):c.5385dup:p.Gly1796fs	coding	Pathogenic
7	128850470	A	AG	A128850475G	FLNC	NM_001458.5(FLNC):c.5389dup:p.Glu1797fs	coding	Pathogenic
7	128851248	CT	C	T128851249A	FLNC	NM_001458.5(FLNC):c.5557del:p.Tyr1853fs	coding	Pathogenic
7	128851257	TGCCATCAACA	T	A128851261G	FLNC	NM_001458.5(FLNC):c.5569_5578del:p.Ile1857fs	coding	Pathogenic
7	128851299	GAGCCATGGCATGGTCAACAAGCC	G	T128851305C	FLNC	NM_001458.5(FLNC):c.5613_5635del:p.Gly1872fs	coding	Pathogenic
7	128851356	AG	A	G128851357A	FLNC	NM_001458.5(FLNC):c.5665del:p.Glu1889fs	coding	Pathogenic
7	128851518	A	AT	G128851520T	FLNC	NM_001458.5(FLNC):c.5733dup:p.Gly1912fs	coding	Pathogenic
7	128852760	T	TG	C128852765G	FLNC	NM_001458.5(FLNC):c.6004+12dup	noncoding	Benign
7	128852873	T	TGC	A128852878G	FLNC;FLNC-AS1	NM_001458.5(FLNC):c.6053_6054dup:p.Lys2019fs	coding	Pathogenic
7	128852893	GT	G	T128852894C	FLNC	NM_001458.5(FLNC):c.6071del:p.Val2024fs	coding	Pathogenic
7	128853499	GCCCAAGCAAGGTGGACATCA	G	C128853500A	FLNC	NM_001458.5(FLNC):c.6240_6259del:p.Pro2081fs	coding	Pathogenic
7	128853538	AC	A	C128853539G	FLNC	NM_001458.5(FLNC):c.6279del:p.Asp2093fs	coding	Pathogenic
7	128853563	CCCCA	C	C128853566G	FLNC	NM_001458.5(FLNC):c.6306_6309del:p.Thr2103fs	coding	Pathogenic
7	128854148	CTG	C	G128854152T	FLNC	NM_001458.5(FLNC):c.6663_6664del:p.Phe2222fs	coding	Pathogenic
7	128854522	G	GC	A128854527C	FLNC	NM_001458.5(FLNC):c.6841dup:p.Gln2281fs	coding	Pathogenic
7	128854547	G	GTCGC	G128854553C	FLNC	NM_001458.5(FLNC):c.6864_6867dup:p.Val2290fs	coding	Pathogenic
7	128854637	CG	C	G128854640C	FLNC	NM_001458.5(FLNC):c.6955del:p.Ala2319fs	coding	Pathogenic
7	128855297	ACT	A	C128855298G	FLNC	NM_001458.5(FLNC):c.7235_7236del:p.Thr2412fs	coding	Pathogenic
7	128856235	TCA	T	C128856240G	FLNC	NM_001458.5(FLNC):c.7252-282CA[2]	noncoding	Benign
7	128856526	GC	G	C128856527T	FLNC	NM_001458.5(FLNC):c.7261del:p.Leu2421fs	coding	Pathogenic
7	128856572	G	GC	G128856576C	FLNC	NM_001458.5(FLNC):c.7309dup:p.Arg2437fs	coding	Pathogenic
7	128856590	GC	G	C128856593G	FLNC	NM_001458.5(FLNC):c.7327del:p.Arg2443fs	coding	Pathogenic
7	128856639	AG	A	G128856640C	FLNC	NM_001458.5(FLNC):c.7374del:p.Glu2458fs	coding	Pathogenic
7	128856826	GAAGTCCCT	G	A128856827T	FLNC;FLNC-AS1	NM_001458.5(FLNC):c.7467_7474del:p.Ser2490fs	coding	Pathogenic
7	128856866	TG	T	G128856870A	FLNC	NM_001458.5(FLNC):c.7510del:p.Asp2504fs	coding	Pathogenic
7	128857304	T	TCGTGGGCAGCCCCTTCAAGG	C128857326G	FLNC	NM_001458.5(FLNC):c.7750_7769dup:p.Lys2591fs	coding	Pathogenic
7	128858395	GT	G	T128858396G	FLNC	NM_001458.5(FLNC):c.8051del:p.Val2684fs	coding	Pathogenic
7	128858439	C	CT	A128858440T	FLNC	NM_001458.5(FLNC):c.8094_8095insT:p.Lys2699Ter	coding	Pathogenic
7	128858448	AG	A	G128858452A	FLNC	NM_001458.5(FLNC):c.8107del:p.Asp2703fs	coding	Pathogenic
7	128858576	TACACAC	T	C128858594A	FLNC	NM_001458.5(FLNC):c.*55CA[8]	noncoding	Benign
7	128858576	TAC	T	C128858598A	FLNC	NM_001458.5(FLNC):c.*55CA[10]	noncoding	Benign
7	128858576	T	TAC	A128858600C	FLNC	NM_001458.5(FLNC):c.*55CA[12]	noncoding	Benign
7	128967308	G	GTTGT	G128967317T	TNPO3	NM_012470.4(TNPO3):c.2679_2682dup:p.Leu895fs	coding	Pathogenic
7	128974637	GTGAGCCCTCC	G	G128974639T	TNPO3	NM_012470.4(TNPO3):c.2273+221_2273+230del	noncoding	Benign
7	128975660	GAAC	G	A128975664T	TNPO3	NM_012470.4(TNPO3):c.2178+156_2178+158del	noncoding	Benign
7	128982034	C	CT	A128982040T	TNPO3	NM_012470.4(TNPO3):c.1859+209dup	noncoding	Benign
7	129001236	T	TG	A129001241G	TNPO3	NM_012470.4(TNPO3):c.697-3dup	noncoding	Benign
7	129205016	A	AAAAG	G129205031A	SMO	NM_005631.5(SMO):c.538-186AAAG[4]	noncoding	Benign
7	129206716	C	CAG	T129206719A	SMO	NM_005631.5(SMO):c.1264+130_1264+131dup	noncoding	Benign
7	129206838	GT	G	T129206846G	SMO	NM_005631.5(SMO):c.1264+259del	noncoding	Benign
7	130381618	TG	T	G130381619T	CPA1	NM_001868.4(CPA1):c.148-11del	noncoding	Benign
7	130383816	TG	T	G130383821A	CPA1	NM_001868.4(CPA1):c.696+27del	noncoding	Benign
7	130384467	A	AC	A130384474C	CPA1	NM_001868.4(CPA1):c.697-63dup	noncoding	Benign
7	130384467	A	ACC	A130384474C	CPA1	NM_001868.4(CPA1):c.697-64_697-63dup	noncoding	Benign
7	130399187	G	GGCCT	A130399192G	CEP41	NM_018718.3(CEP41):c.974-152_974-149dup	noncoding	Benign
7	130399819	C	CAA	G130399833A	CEP41	NM_018718.3(CEP41):c.973+207_973+208dup	noncoding	Benign
7	130399819	C	CA	G130399833A	CEP41	NM_018718.3(CEP41):c.973+207dup	noncoding	Benign
7	130400264	G	GA	T130400269A	CEP41	NM_018718.3(CEP41):c.758-14dup	noncoding	Benign
7	130402343	C	CA	C130402354A	CEP41	NM_018718.3(CEP41):c.574+295dup	noncoding	Benign
7	130402353	AC	A	C130402354A	CEP41	NM_018718.3(CEP41):c.574+294del	noncoding	Benign
7	130427949	ACTC	A	C130427950A	CEP41	NM_018718.3(CEP41):c.97+3_97+5del	noncoding	Pathogenic
7	130440782	G	GCCCGC	T130440796G	CEP41	NM_018718.3(CEP41):c.33+142GCGGG[3]	noncoding	Benign
7	130440959	AG	A	G130440962A	CEP41	NM_018718.3(CEP41):c.7del:p.Leu3fs	coding	Pathogenic
7	130441228	C	CT	C130441230T	CEP41	Single_allele	noncoding	Benign
7	131506122	CT	C	T131506123G	PODXL	NM_001018111.3(PODXL):c.1312-88del	noncoding	Benign
7	131506704	TTCTCATCC	T	T131506705G	PODXL	NM_001018111.3(PODXL):c.1116_1123del:p.Asp373fs	coding	Pathogenic
7	131506795	TC	T	C131506798A	PODXL	NM_001018111.3(PODXL):c.1102-70del	noncoding	Benign
7	131509499	GC	AA	G131509499A	PODXL	NM_001018111.3(PODXL):c.888_889delinsTT:p.Gln297Ter	coding	Pathogenic
7	131556270	GGGCGAC	G	G131556290A	PODXL	NM_001018111.3(PODXL):c.66GTCGCC[3]:p.24PS[3]	coding	Benign
7	131556270	GGGCGACGGCGAC	G	G131556284A	PODXL	NM_001018111.3(PODXL):c.66GTCGCC[2]:p.24PS[2]	coding	Benign
7	131556270	G	GGGCGAC	A131556296G	PODXL	NM_001018111.3(PODXL):c.66GTCGCC[5]:p.24PS[5]	coding	Benign
7	135570950	A	ATAGT	T135570953G	NUP205	NM_015135.3(NUP205):c.29-153_29-152insGTTA	noncoding	Benign
7	135571279	AT	A	T135571292A	NUP205	NM_015135.3(NUP205):c.171+45del	noncoding	Benign
7	135579197	A	AT	G135579212T	NUP205	NM_015135.3(NUP205):c.1042+296dup	noncoding	Benign
7	135579197	A	ATT	G135579212T	NUP205	NM_015135.3(NUP205):c.1042+295_1042+296dup	noncoding	Benign
7	135579198	T	TTTC	T135579201C	NUP205	NM_015135.3(NUP205):c.1042+285_1042+286insCTT	noncoding	Benign
7	135584907	TG	CA	T135584907C	NUP205	NM_015135.3(NUP205):c.1118_1119inv:p.Met373Thr	coding	Benign
7	135591124	GT	G	T135591125A	NUP205	NM_015135.3(NUP205):c.1474-325del	noncoding	Benign
7	135591253	G	GTAT	T135591258A	NUP205	NM_015135.3(NUP205):c.1474-195_1474-193dup	noncoding	Benign
7	135605853	AT	A	T135605869A	NUP205	NM_015135.3(NUP205):c.2824-276del	noncoding	Benign
7	135616773	TA	T	A135616786C	NUP205	NM_015135.3(NUP205):c.3532+60del	noncoding	Benign
7	135616773	T	TA	C135616787A	NUP205	NM_015135.3(NUP205):c.3532+60dup	noncoding	Benign
7	135626416	G	GA	G135626419A	NUP205	NM_015135.3(NUP205):c.4793+57dup	noncoding	Benign
7	135626578	GC	G	C135626581A	NUP205	NM_015135.3(NUP205):c.4793+220del	noncoding	Benign
7	135630306	C	CCT	G135630309C	NUP205	NM_015135.3(NUP205):c.4933-37_4933-36dup	noncoding	Benign
7	135638414	GA	G	A135638432G	NUP205	NM_015135.3(NUP205):c.5266-125del	noncoding	Benign
7	135638414	G	GAAA	G135638433A	NUP205	NM_015135.3(NUP205):c.5266-127_5266-125dup	noncoding	Benign
7	135638414	G	GA	G135638433A	NUP205	NM_015135.3(NUP205):c.5266-125dup	noncoding	Benign
7	135643420	A	ACTGGT	C135643423G	NUP205	NM_015135.3(NUP205):c.5559+64_5559+65insGGTCT	noncoding	Benign
7	135643660	AT	A	T135643670A	NUP205	NM_015135.3(NUP205):c.5559+312del	noncoding	Benign
7	135648741	T	TA	C135648749A	NUP205	NM_015135.3(NUP205):c.*192dup	noncoding	Benign
7	136868746	GCACACACACACACACA	G	C136868759G	CHRM2	NM_001006630.2(CHRM2):c.-528CA[6]	noncoding	Benign
7	136868746	GCACACA	G	C136868769G	CHRM2	NM_001006630.2(CHRM2):c.-528CA[11]	noncoding	Benign
7	136868746	GCA	G	C136868773G	CHRM2	NM_001006630.2(CHRM2):c.-528CA[13]	noncoding	Benign
7	138088841	C	CGTGT	A138088858G	AKR1D1	NM_005989.4(AKR1D1):c.261+74GT[10]	noncoding	Benign
7	138091665	C	CA	T138091678A	AKR1D1	NM_005989.4(AKR1D1):c.262-91dup	noncoding	Benign
7	138091677	A	AG	T138091678G	AKR1D1	NM_005989.4(AKR1D1):c.262-91_262-90insG	noncoding	Benign
7	138097847	CT	C	T138097862C	AKR1D1	NM_005989.4(AKR1D1):c.379-4del	noncoding	Benign
7	138097847	CTT	C	T138097861C	AKR1D1	NM_005989.4(AKR1D1):c.379-5_379-4del	noncoding	Benign
7	138715507	GTGT	G	G138715512T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2257+254_2257+256del	noncoding	Benign
7	138715748	T	TGGGCTGCTCACTCACGTGCATGAGCGGGG	C138715774G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2257+15_2257+16insGCTCATGCACGTGAGTGAGCAGCCCCCCC	noncoding	Benign
7	138732793	C	CA	G138732807A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1908+71dup	noncoding	Benign
7	138732851	TA	T	A138732864T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1908+25del	noncoding	Benign
7	138732851	T	TA	T138732865A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1908+13dup	noncoding	Benign
7	138734133	T	TA	C138734135A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1691+2dup	noncoding	Pathogenic/Likely_pathogenic
7	138747429	TTGTC	T	G138747435T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1312_1315del:p.Asp438fs	coding	Pathogenic
7	138747559	AG	A	G138747564C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1185del:p.Tyr396fs	coding	Pathogenic
7	138752824	GT	G	T138752827G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.829del:p.Thr277fs	coding	Pathogenic
7	138756560	T	TA	G138756570A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.640-29dup	noncoding	Benign
7	138756569	A	AG	T138756578G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.640-37dup	noncoding	Benign
7	138763158	TACACACAGAC	T	G138763186C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.292-163GTCTGTGTGT[2]	noncoding	Benign
7	138763186	GAC	G	A138763211G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.292-187GT[12]	noncoding	Benign
7	138768495	AT	A	T138768496C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.291+284del	noncoding	Benign
7	138769147	GAAA	G	A138769161T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.196+23_196+25del	noncoding	Benign
7	138769147	GAA	G	A138769162T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.196+24_196+25del	noncoding	Benign
7	138769147	GA	G	A138769163T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.196+25del	noncoding	Benign
7	138769147	G	GA	T138769164A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.196+10dup	noncoding	Benign
7	138769211	TTCAC	T	T138769212A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.154_157del:p.Val52fs	coding	Pathogenic
7	138770964	CA	C	A138770965T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.117+166del	noncoding	Benign
7	138771400	C	CT	C138771418T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-17-153dup	noncoding	Benign
7	138771441	G	GC	T138771444C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.-17-179dup	noncoding	Benign
7	138869780	G	GA	G138869782A	KIAA1549	NM_001164665.2(KIAA1549):c.4552-20dup	noncoding	Benign
7	138898940	AC	A	C138898942T	KIAA1549	NM_001164665.2(KIAA1549):c.3847+14del	noncoding	Benign
7	139875656	G	GTTTCTATTATGTACGATAT	G139875698C	TBXAS1	NM_001061.7(TBXAS1):c.236+20TTTCTATTATGTACGATAT[3]	coding	Benign
7	139911207	A	AT	A139911214T	TBXAS1	NM_001061.7(TBXAS1):c.237-12dup	noncoding	Benign
7	140734779	A	AG	A140734780G	BRAF	NM_004333.6(BRAF):c.2128-10_2128-9insC	noncoding	Benign
7	140734786	G	AGA	G140734786A	BRAF	NM_004333.6(BRAF):c.2128-16delinsTCT	noncoding	Benign
7	140734820	A	AAAAAG	G140734824A	BRAF	NM_004333.6(BRAF):c.2128-51_2128-50insTTTCT	noncoding	Benign
7	140734820	A	AAAAG	A140734836G	BRAF	NM_004333.6(BRAF):c.2128-62CTTT[4]	noncoding	Benign
7	140739519	TGG	T	G140739529T	BRAF	NM_004333.6(BRAF):c.2127+291_2127+292del	noncoding	Benign
7	140739519	TG	T	G140739530T	BRAF	NM_004333.6(BRAF):c.2127+292del	noncoding	Benign
7	140739956	GA	G	A140739964G	BRAF	NM_004333.6(BRAF):c.1993-11del	noncoding	Benign
7	140739956	G	GA	G140739965A	BRAF	NM_004333.6(BRAF):c.1993-11dup	noncoding	Benign/Likely_benign
7	140740188	GC	G	C140740189T	BRAF	NM_004333.6(BRAF):c.1993-243del	noncoding	Benign
7	140778038	AGGTGCTGTCACATTC	A	G140778039A	BRAF	NM_004333.6(BRAF):c.1455_1469del:p.Leu485_Pro490delinsPhe	coding	Pathogenic
7	140787300	C	CAAA	G140787325A	BRAF	NM_004333.6(BRAF):c.1177+245_1177+247dup	noncoding	Benign
7	140787300	C	CA	G140787325A	BRAF	NM_004333.6(BRAF):c.1177+224dup	noncoding	Benign
7	140808351	CAAAA	C	A140808374T	BRAF	NM_004333.6(BRAF):c.609-293_609-290del	noncoding	Benign
7	140808351	CAAA	C	A140808375T	BRAF	NM_004333.6(BRAF):c.609-292_609-290del	noncoding	Benign
7	140808351	CAA	C	A140808376T	BRAF	NM_004333.6(BRAF):c.609-291_609-290del	noncoding	Benign
7	140808351	CA	C	A140808377T	BRAF	NM_004333.6(BRAF):c.609-290del	noncoding	Benign
7	141615460	T	TC	A141615469C	AGK	NM_018238.4(AGK):c.424-3dup	noncoding	Benign
7	141615645	TC	T	C141615646T	AGK	NM_018238.4(AGK):c.518+81del	noncoding	Benign
7	141649094	GA	G	A141649111G	AGK	NM_018238.4(AGK):c.976-152del	noncoding	Benign
7	141649094	G	GA	G141649112A	AGK	NM_018238.4(AGK):c.976-152dup	noncoding	Benign
7	141649319	C	CT	A141649323T	AGK	NM_018238.4(AGK):c.1035dup:p.Ile346fs	coding	Pathogenic
7	141649323	A	ATAAC	T141649330A	AGK	NM_018238.4(AGK):c.1039_1042dup:p.Ile348fs	coding	Pathogenic
7	142749823	AACAGCAACAGAATAGCACCACTATAGCTGCTCCTAACCTCGAATGCACCTGGGGAGGTTGAAAAATTACTCATGCCAGAGACTCAGCTCTAGAAATTCTAACTTCAATTGTCTGGGGTAGAGCTTGTGTTCTGGGCTTTTAAGCTTCCCAGGTGATTTTTAATATTTCCAGCCATGCAGCCAAGGTTAAGAATTGCTGTCCTATTGGCCAATAACAAAGTCTACCTTTGTTCTGCCAAAGTGAGCCTGGGGGCTGCCCTCAACTCTGCCCTGACTGCACAGATCTGAGCTATGGGGGAAGGTGGTCATGGCCAGGTCTATGCAGACAGGGGGTTTTCCTAGCTTGGCAAAAGAATCCTGACAATCCAGGGCCCAAATAGCCAGGGGAAGTACACAGGTGATGAATAAAAGAGAGAAGCACTCAGTGGGAGAGACAACCACATCCCAACTCCTATCCCACTGGAAGCATTGTGAGGACATTCCTTGCGACTTCAGCCTGGTGACCCCAGGAGAGCTCGGATCCTCCGCAGGGTACCTAGCTATGTGCCCTGCAGGCACAGAGACTTGGGAGCCACAGGCAGTGATGATCACCAGGGGTGGCAGAGCTCCCTCCCTTGCCTAGCCTCACTGTGCTTGTTAAGGATTTCTAATTAGCAGAAAGCAATCACAGGCTGGGAGCGCCACCCCTAACATGCTATTGACTTGCCTTCTCCCTTCCCATCTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAAGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGCAGGCCACTGCTACAAGTCGTAAGTGTGGGGCCCCCGACTGCAAAGCTCCCGGCCAGTCTGCCTGGGAGAGCTTGGCTTCAGCCCAGGGAACTACTGAGGTTGGGTAAGATGGATGGGAGAGGTGGTGGAGAAGAAAACTTGTTGGCAGCTGCGGACTCTCCAGAGCAGAGAGTGAACACAAGACAGGAACCTCTCACACCCAGGCAAATCCATGAAACAGCAAGGGTTGTGGTCATAAAAGCAGGCAGGGATGATCTTGGGGTGGTGAGAGCTAGTGAGAAAAGCAGGCAAGTATCTTTTGCTGGTTAGCTACACATTAAAGCCAACTAAGAAAGACTTTTTAAAAATACAGATGCCTTTGTCCTATCCCAGGGCAATTAAGTCAAAATTTTCAGGAAGAGGGTGTGAATATCAGTGAGAATTTTACACTCTACCTCTGCTAACTGTAGAGTGTATAGACAGAGCTGAGAACTGCTGCCTACACCAAGAACTCTCAAACCTGAGTATGCATCAGAACGCCCTGCAGGCTTGTTAAGGCACAAATCACTGGGCCCCTTCCCCAAGGTTCTGATCAGTAGGTGGGGGTAAGGACCAAGAATTCACATTTCTAACAAGTTCCCAGGAGATGCTAATGCTATGGCTACCCTTGGATTAGATTACACAGAAGGGTGGTTCTCACCAGGCCAAGAATGGAGGGAGGAACAGGCACTGTGCACAGTTGGCAAAGGCCTGGGGTGAAGAACGCTGGGAAAACTTCAAGGAGCTCCTTGTGCCCACAGTGCTAGTGACTGTGGAGATTGTGGGAAAGAGTCTGGGGAGGCAGGTTGAGGAGCAGCCTCTGGTGGGATCCCTTTGACTCTTCCCCACCCCACTACCACCAACCTCTGGAGCAGATAGGTCCTGGGTCTCATACCTTCACTGACCCACATCCCTCTGCTGCCCATGCGATATGGCCACACACCCCACCCCATGCCTCCAGAGCTGTCCATGAGCAGAGAGCTTGAGGAACCTGGGGAAGGTGGGATAGGTGCCCTGGCTGTGGGAGAAGGTCTTCACCATGCCTGCCCTGCCCATCAGCCGCATCCAGGTGAGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATCATCCGCCACCCCCAATACGACAGGAAGACTCTGAACAATGACATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTGGCACGAAGTGCCTCATCTCTGGCTGGGGCAACACTGCGAGCTCTGGCGGTGAGTGGGACCCTTAGTCCTTCTACTTCCCTCCATCCTCACAATTTCCAGAACAAACCATGCCCCTTAACTTGAATCCTCTCACCTCCAGGCTTAAGACACATTTCGAGTGCCCATTACACACAGACTCTGCACTGGGCACCAGAGAGATGCAAACTATCAAGGACTTGGCTCCTAAAATCAAGAGACAGGACAAATGGAGAACTTGATATGATCACATCTTGGGAGGGGTTCAACAATGATCATTCTGGGAACTAAAAGCCAGAGTCTCTTGCCAGGACTTATGTTCTGGAGTCCTCTCCAGGGGCTGTGTTCCTCTTCAGTTTTCCATCCAAGATTATTGTCTCCTTCTCTGGCCTGACCCACATTTCTACTTCCTTTGA	GACAGCAACAGAATAGCACCACTATAGCTGCTCCTAACCTCGAATGCACCTGGGGAGGTTGAAAAATTACTCATGCCAGAGACTCAGCTCTAGAAATTCTAACTTCAATTGTCTGGGGTAGAGCTTGTGTTCTGGGCTTTTAAGCTTCCCAGGTGATTTTTAATATTTCCAGCCATGCAGCCAAGGTTAAGAATTGCTGTCCTATTGGCCAATAACAAAGTCTACCTTTGTTCTGCCAAAGTGAGCCTGGGGGCTGCCCTCAACTCTGCCCTGACTGCACAGATCTGAGCTATGGGGGAAGGTGGTCATGGCCAGGTCTATGCAGACAGGGGGTTTTCCTAGCTTGGCAAAAGAATCCTGACAATCCAGGGCCCAAATAGCCAGGGGAAGTACACAGGTGATGAATAAAAGAGAGAAGCACTCAGTGGGAGAGACAACCACATCCCAACTCCTATCCCACTGGAAGCATTGTGAGGACATTCCTTGCGACTTCAGCCTGGTGACCCCAGGAGAGCTCGGATCCTCCGCAGGGTACCTAGCTATGTGCCCTGCAGGCACAGAGACTTGGGAGCCACAGGCAGTGATGATCACCAGGGGTGGCAGAGCTCCCTCCCTTGCCTAGCCTCACTGTGCTTGTTAAGGATTTCTAATTAGCAGAAAGCAATCACAGGCTGGGAGCGCCACCCCTAACATGCTATTGACTTGCCTTCTCCCTTCCCATCTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAAGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGCAGGCCACTGCTACAAGTCGTAAGTGTGGGGCCCCCGACTGCAAAGCTCCCGGCCAGTCTGCCTGGGAGAGCTTGGCTTCAGCCCAGGGAACTACTGAGGTTGGGTAAGATGGATGGGAGAGGTGGTGGAGAAGAAAACTTGTTGGCAGCTGCGGACTCTCCAGAGCAGAGAGTGAACACAAGACAGGAACCTCTCACACCCAGGCAAATCCATGAAACAGCAAGGGTTGTGGTCATAAAAGCAGGCAGGGATGATCTTGGGGTGGTGAGAGCTAGTGAGAAAAGCAGGCAAGTATCTTTTGCTGGTTAGCTACACATTAAAGCCAACTAAGAAAGACTTTTTAAAAATACAGATGCCTTTGTCCTATCCCAGGGCAATTAAGTCAAAATTTTCAGGAAGAGGGTGTGAATATCAGTGAGAATTTTACACTCTACCTCTGCTAACTGTAGAGTGTATAGACAGAGCTGAGAACTGCTGCCTACACCAAGAACTCTCAAACCTGAGTATGCATCAGAACGCCCTGCAGGCTTGTTAAGGCACAAATCACTGGGCCCCTTCCCCAAGGTTCTGATCAGTAGGTGGGGGTAAGGACCAAGAATTCACATTTCTAACAAGTTCCCAGGAGATGCTAATGCTATGGCTACGCTTGGATTAGATTACACAGAAGGGTGGTTCTCACCAGGCCAAGAATGGAGGGAGGAACAGGCACTGTGCACAGTTGGCAAAGGCCTGGGGTGAAGAACGCTGGGAAAACTTCAAGGAGCTCCTTGTGCCCACAGTGCTAGTGACTGTGGAGATTGTGGGAAAGAGTCTGGGGAGGCAGGTTGAGGAGCAGCCTCTGGTGGGATCCCTTTGACTCTTCCCCACCCCACTACCACCAACCTCTGGAGCAGATAGGTCCTGGGTCTCATACCTTCACTGACCCACATCCCTCTGCTGCCCATGCGATATGGCCACACACCCCACCCCATGCCTCCAGAGCTGTCCATGAGCAGAGAGCTTGAGGAACCTGGGGAAGGTGGGATAGGTGCCCTGGCTGTGGGAGAAGGTCTTCACCATGCCTGCCCTGCCCATCAGCCGCATCCAGGTGAGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATCATCCGCCACCCCCAATACGACAGGAAGACTCTGAACAATGACATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTGGCACGAAGTGCCTCATCTCTGGCTGGGGCAACACTGCGAGCTCTGGCGGTGAGTGGGACCCTTAGTCCTTCTACTTCCCTCCATCCTCACAATTTCCAGAACAAACCATGCCCCTTAACTTGAATCCTCTCACCTCCAGGCTTAAGACACATTTCGAGTGCCCATTACACACAGACTCTGCACTGGGCACCAGAGAGATGCAAACTATCAAGGACTTGGCTCCTAAAATCAAGAGACAGGACAAATGGAGAACTTGATATGATCACATCTTGGGAGGGGTTCAACAATGATCATTCTGGGAACTAAAAGCCAGAGTCTCTTGCCAGGACTTATGTTCTGGAGTCCTCTCCAGGGGCTGTGTTCCTCTTCAGTTTTCCATCCAAGATTATTGTCTCCTTCTCTGGCCTGACCCACATTTCTACTTCCTTTGTTCTCTTCCTGATCCTCACAGCCGACTACCCAGACGAGCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACCCTGGAAAGATTACCAGCAACATGTTCTGTGTGGGCTTCCTTGAGGGAGGCAAGGATTCATGTCAGGTGATTTGACCAACCCTTCCCATGCTGAGGCTCCCACTGATACCTAGGCCCCACCAGGGAAAAGGATTTGAACTCAAAAGGTGGTGGGGCTGAGGAGGCTCCCTGCAGTGCCCACATGGAGAAGTGAGGAAGACTCCCTTGGGCTGCATCTTGTCTGCTTAGGAAGAACAGAGAATGGGCCACCATGAGAAGGACATGGAGCCACAGAGCTGGCTGGAAAGGGGTCTTTTAAGGTTCAGAGTAAATGTAGCTATATTCCTCCTCCATCTCTCCATACAACTTGTCCCTTCTTCCCCCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGCCCAGAAGAACAAGCCTGGAGTCTACACCAAGGTCTACAACTATGTGAAATGGATTAAGAACACCATAGCTGCCAATAGCTAAAGCCCCCAGTATCTCTTCAGATTTGTAAACAGCTAGGCCATTCTCCCTCCTTCTAACCCTCATCTCCAGGGCCTAAGAAAGCCCAGCTCTGTTATCTGGGGCTTGACTTTCCCTGTCTTCCCCATCCCAGTATCCTTGCAGGAAACAGCCGGTCTCGCTCTCTGCTCTCAGAAGGAAAGTTTCCTTATCACCTGTGAATCACAAACCCAGAGAGTGGCCAAACATAGCCAGGCTGATGCAAGACCCTGGGAAGAGGAAAGCTGCAGGTGTGTTTGTGCTGGGAGGAGTGGTGACCCTCACCTCACAGTCACCTCCTCTCTGGATCCTCGTGAGGTATAAAGACGAGTCCTCCACCACCAGTCAGGCACACTCTACCACCATGAATCCACTCCTGATCCTTACCTTTGTGGCAGCTGCTCGTGAGTATCATGCCCTGCCTCAGGCCCCAACCACCCCCCCGTTCCTGGCCGACAAATGCCCTTCCATTCTTACCACCTCTCCTCTTTTGACTGTGCTCTGATATTCCGTTTCCTCCATCTGGCATATCTCCTTCCCATCCTCCTTGGGCTCTTTTTAAGTCTCACCTGTTCACCTTCTCCTTGACTTCACTCCCACCACTGTCATTCATCCATATCCGAGTTGTGGTTGGAGAAGCTGGGAAGGGGGCCAGGTGGGGCTGTCCCACGAAATGAAGCAGCAGGCTTCAGGCTTGGCTCCGACAGCAACAGAATAGCACCACTATAGCTGCTCCTAACCTCGAATGCACCTGGGGAGGTTGAAAAATTACTCATGCCAGAGACTCAGCTCTAGAAATTCTAACTTCAATTGTCTGGGGTAGAGCTTGTGTTCTGGGCTTTTAAGCTTCCCAGGTGATTTTTAATATTTCCAGCCATGCAGCCAAGGTTAAGAATTGCTGTCCTATTGGCCAATAACAAAGTCTACCTTTGTTCTGCCAAAGTGAGCCTGGGGGCTGCCCTCAACTCTGCCCTGACTGCACAGATCTGAGCTATGGGGGAAGGTGGTCATGGCCAGGTCTATGCAGACAGGGGGTTTTCCTAGCTTGGCAAAAGAATCCTGACAATCCAGGGCCCAAATAGCCAGGGGAAGTACACAGGTGATGAATAAAAGAGAGAAGCACTCAGTGGGAGAGACAACCACATCCCAACTCCTATCCCACTGGAAGCATTGTGAGGACATTCCTTGCGACTTCAGCCTGGTGACCCCAGGAGAGCTCGGATCCTCCGCAGGGTACCTAGCTATGTGCCCTGCAGGCACAGAGACTTGGGAGCCACAGGCAGTGATGATCACCAGGGGTGGCAGAGCTCCCTCCCTTGCCTAGCCTCACTGTGCTTGTTAAGGATTTCTAATTAGCAGAAAGCAATCACAGGCTGGGAGCGCCACCCCTAACATGCTATTGACTTGCCTTCTCCCTTCCCATCTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAAGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGCAGGCCACTGCTACAAGTCGTAAGTGTGGGGCCCCCGACTGCAAAGCTCCCGGCCAGTCTGCCTGGGAGAGCTTGGCTTCAGCCCAGGGAACTACTGAGGTTGGGTAAGATGGATGGGAGAGGTGGTGGAGAAGAAAACTTGTTGGCAGCTGCGGACTCTCCAGAGCAGAGAGTGAACACAAGACAGGAACCTCTCACACCCAGGCAAATCCATGAAACAGCAAGGGTTGTGGTCATAAAAGCAGGCAGGGATGATCTTGGGGTGGTGAGAGCTAGTGAGAAAAGCAGGCAAGTATCTTTTGCTGGTTAGCTACACATTAAAGCCAACTAAGAAAGACTTTTTAAAAATACAGATGCCTTTGTCCTATCCCAGGGCAATTAAGTCAAAATTTTCAGGAAGAGGGTGTGAATATCAGTGAGAATTTTACACTCTACCTCTGCTAACTGTAGAGTGTATAGACAGAGCTGAGAACTGCTGCCTACACCAAGAACTCTCAAACCTGAGTATGCATCAGAACGCCCTGCAGGCTTGTTAAGGCACAAATCACTGGGCCCCTTCCCCAAGGTTCTGATCAGTAGGTGGGGGTAAGGACCAAGAATTCACATTTCTAACAAGTTCCCAGGAGATGCTAATGCTATGGCTACGCTTGGATTAGATTACACAGAAGGGTGGTTCTCACCAGGCCAAGAATGGAGGGAGGAACAGGCACTGTGCACAGTTGGCAAAGGCCTGGGGTGAAGAACGCTGGGAAAACTTCAAGGAGCTCCTTGTGCCCACAGTGCTAGTGACTGTGGAGATTGTGGGAAAGAGTCTGGGGAGGCAGGTTGAGGAGCAGCCTCTGGTGGGATCCCTTTGACTCTTCCCCACCCCACTACCACCAACCTCTGGAGCAGATAGGTCCTGGGTCTCATACCTTCACTGACCCACATCCCTCTGCTGCCCATGCGATATGGCCACACACCCCACCCCATGCCTCCAGAGCTGTCCATGAGCAGAGAGCTTGAGGAACCTGGGGAAGGTGGGATAGGTGCCCTGGCTGTGGGAGAAGGTCTTCACCATGCCTGCCCTGCCCATCAGCCGCATCCAGGTGAGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATCATCCGCCACCCCCAATACGACAGGAAGACTCTGAACAATGACATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTGGCACGAAGTGCCTCATCTCTGGCTGGGGCAACACTGCGAGCTCTGGCGGTGAGTGGGACCCTTAGTCCTTCTACTTCCCTCCATCCTCACAATTTCCAGAACAAACCATGCCCCTTAACTTGAATCCTCTCACCTCCAGGCTTAAGACACATTTCGAGTGCCCATTACACACAGACTCTGCACTGGGCACCAGAGAGATGCAAACTATCAAGGACTTGGCTCCTAAAATCAAGAGACAGGACAAATGGAGAACTTGATATGATCACATCTTGGGAGGGGTTCAACAATGATCATTCTGGGAACTAAAAGCCAGAGTCTCTTGCCAGGACTTATGTTCTGGAGTCCTCTCCAGGGGCTGTGTTCCTCTTCAGTTTTCCATCCAAGATTATTGTCTCCTTCTCTGGCCTGACCCACATTTCTACTTCCTTTGT	A142749823G	PRSS1;TRB	NC_000007.14:g.142749126_142753040dup	noncoding	Pathogenic
7	143316197	CTC	GGA	C143316197G	CLCN1	NM_000083.3(CLCN1):c.-16_-14delinsGGA	noncoding	Benign
7	143316256	GGTGGGGTAGTGACCCCCAGTACCAGTATATGCCCTTTGAACACTGCACCAGCTACGGACTGCCCTCTGAGAATGGGGGCCTCCAGCACAGGCTCCGGAAGGATGCAGGCCCCCGCCACAACGTCCACCCCACACAGGTAAAGTGCTCTAAGGGGAGAGGGGAGCCATGGATGAGGGGAGACAGTGGTGCCAGAGACTGGTGAAAATGAGGAATTGGGTGAAAAGAGGGAGCAGTGTTACATTTTTTTAACTTAAAAAACAAGTACGTGGTGATGTGTTCAAAATATGAAAATCTTTGAAAGTCTGGGCTCACTTAAGTATGCACTTAGAGAGATATGCATGCACTTTCATACAACCTTTACCAACAGAGTACCCAAATCATATGGGGAAACAGCAGAGCCTCACATGCATGAATAGCTCGTGCTTACATAACCTACGTGGAGTGGATTGCGTAGGAGCCCACACTGCAGTGTGCTGGGAGCTGTCTCCCACACCCTCACCCACAGGTAGACACTGCCAGATTTCTGCCTCTGGGACCCTCTGCAGAATACACACAAACATGAATCTTTCTGCAGAAGGCAGAAGAAAGGAATTGGGCAAGTGTAGAAAACAGACTGAATTGCTTATCAGTGATCAAAGATCTACCAACGTCAAAATGAGCAGAGATGTACAAGCTTTTAGGTCGCAAGATGATCAAGTAAGAACCTATTAAGTGTTAGGCACCTGGAAAAGGGCAGAGATGTGATCCCAGCAACAGAAGCATGCAGGCTAATTAGGAGTGTCTATGGATGAGCAGCCTCCCGCTGTGGGATTGGTGGGATATGAACACCTAGGAAAGGGGGAATGGGGATGGGCACAACTAAAGGAAAGGTTGTGAAATTGTCATGGAAAAAGATAGGTCATGGTTAATAAGTAAGTGTGCCTCTCCCTCCAAAGAATGCAGAGAATAACAGAGGATAGAATTTGTCTAGAGGGCAGTTGGCCAGAACTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGCTATCTTGGCTCACTGCGACCTCCGCCTCCCGGGTTCAAGCAATTCTCTTTCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATACCTGGCAAATTTTTGTACTTTCAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGTCTCGAACTCCTGACCTCAGGTAATTCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGTGTTAACCACTGTGCCCAGTCTGGTCAGAACTTAAAAGGCTTTTTTTTCTTTCTTTTTTTTTTTTTTAACAGGGAGCCTTCAGTTCCTTTAGGTTTAAGGCTGGGAAGCTGAGGCATGAGCTATGCAGGGGATCTCAGCACTGGGGGTCAAAAGGATCTGCTCTCAGTCCCTGACCAACCCCCAGGAGTATTTGCAAAGGCAGCGCTAGGGACCCAGTAGGGAAGAGGGACATACAGGTCAGTGTAGGCTGGAATCGAGCATTGGGAAGGTTTCTTGGAGACAGCGGGGTCTGACTAGGCCTTTGAACACTGTGTGGGATCAGCAGGAGGGAAGACCCCTCCCCCTGGCCCTGTGTTCTCACTCGTGTACATGGTTGTATCTGGGTGGGATGGCAACTTGAGTAACAGTGCCATTATGGCACTTCCTGATGACAGTTCTCGTGTTGGGAAGCTATGGTTAGTTTGGGGAGTAGAATTGGCCTGTTTTCTACAGGTCTCAAAAGTAAACAAGAGTTTGGATTAGTTTTTCTTTGTTTAATTTTTATTATGGAAGACTTACACAAAAATGGAATGGTATAGTGAAGCCCCAAGTACCCACCAGTTGTCAATATTTTGTCACTATTGTTCCATCTATTCTTCCCTTCCCCACCCTCACCACTCTACACACCATGGAATACTTTTTTTTTGTTTTTTGTTTTTTGTTTTTTGTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCCGCCTCCCAGGTAGCTGAGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTCAGGTAACCTGCCCATCTCAGGCTCCTAAAGTGCTGGGGTTACAGGGGTGAGCCACTGAGCCTTGCTTCCACCTTGGAATACTTTTTAACAAATCCCAGACATTGTATCACTTGTAGACTTGAGTTTTGACTTCTCCCTTGCCCTCCCCTCACCCTGCCCTGCATGGGACCAGCCAGAACAGATCTGGCCCTTTAAGTGTTTTCCCAGCCCAGGTATGATGATATGAAGCAACCCCCTTCCTTGTCTCCACTGGCCTGGGGCCTTGAGGAGCTGAGACAGCCTCAGCTGTCTGACTTCCACTGGGAAGTATGTTCTCTCTCTGGGTCCCACGCAGGGTTTGGAAGGAAACACTGCCTCCCTCGGTCACTGACCCAGAAGACAAACAGCCATGAGCAGGGCAATTCATGTGCGTGCTTGTTCAGGACTGCGGTGTAAAATGCTGCTCATATTGTGAAATCAGATCTCTTCTACTCAGGCTCTCCCAGAATCCAGCAACATGGCCTGGCCTGACCCTGGCCCCAGAGGACAGTTAGTGTAGTGGGAGTGGGGCAGGCTAAAAGTGGTTGGAGCTCTTGTATACCCCACACAGACACACGTGCTCTGCCTCAGGATGGAAGCGGAGGGCCACCAGACCTGGGGGAGCTGCTCTGTCCTCTTCACATGTGGGGCAGGTAGGGGTCTAATTATCTAGCTGTGGGAAGAAGTAGATGGACCTGCCTTTTCGGGCTAGTTCTTGTGTGTGCATACAAGCACTGGGAGATGAAGTGGATGGTCTTGAAGCTTGATAGAGGACCTGAGGTGCCTCAGGTAAGGCTAGACACACCAAGGCAAAGTGCAACCAAGACTGCCCTGCTAGTTAGCCCAGTCTGTCCTCACCCTGTTCATGTTAGGAGAAAAGTCAATGCAAGTGGTCTGGGGAAATTGTGGGACATACAGAAAGCGCAGTGACACAAAACACCTGATTGATATGGCCACCTGGGTTCAGCACAGTTCTGTACCTCTGCTTCAAAGCAAAAACTGGCCTCCTTGATAAAGGCTACCCTGGATCAAGGTGAGTACAGGTTGGAGAATGGGTGTAGAGAAGGTAGGATGAATGAACAAGGGAAAGGGTGGGAAGTGTGGGAATGGAGGGTGGAGAGTAGAGGGCAGGGATGACCACAAAGTCACCCTGCATGCAGTCAACACCCAGAATTCAAAAAGCTGTTGTTCTTTTCTTCTGTGAGTCTGTCTGCTGGCCTCTGTCTATTATTTTTTTAGTCTTCCACAAGGCAGACACTGATCATTCTCTCTCTGTCCAGATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAAGGTGATGGGGACTGAGGAATAAAGAAATCTGGAGTAGAAACAGGTACAGGGATTAGGAGAATAACTTGGGCATCCCATTGCACGTACGTACTCCCTGCCCTGCTACAAAAACTCTCCTCTAATTGTTTTTAAGAGACAGGGTCTCACTCTGTCATTCAGACTGAAGTGCAGTGGAGTGATCATAGCTCACTGCAGCCTAGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCTCCAGTAGCTGAGACTATAGGCACATGCCACCATGCCCAGCTAATTTTAAAACTTTTTTTGTAAGGATGCTGAGGCTGGTCTTGAACTCCTGGCATCAAGCAATCCTCCCGCCTTAGCCTCCCAAATTCCTGGGATTAGAGGCGTGAGCCACCATGCTTGGCCCCTCTAAGTATTAAGGAAAAGGCACCTCTCTTCACCTCCTTCGCACTTTGCCTATTCCCTGTTATTCCTCCCACAACTCCAAGAAATGAGTTTTAGGAAGGAATTCAAGTATTCATGGGGAACTGGGCTTTGGTGCCTTTTGCAGGGGCCGGAGCAGCAATCAGCAGAGGGGTAATGAGAAACTCAGTGCATAAGACATACGGACCCTGGGGGCCCAAGGCTTCCCCTCCCATCTTGGGTATAGCACCCAAAGTAAAGTAGTGACTCGTTAGCTGCTTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTACATATATATATTTTTGTTTGTTTGTTTGTTTGTTGTTTGTTTGTTTGTTTTTTCCCTCATCTCTTCCTAGATTGTATCCACCGCCTGGGACAGGTGGTGAGAAGAAAATTAGGGGAAGACGGGATCTTTCTGGTGCTTCTGGGACTGCTGATGGCTCTGGTCAGCTGGAGCATGGACTACGTCAGTGCCAAAAGCCTTCAGGGTAGGTTTAACCTGGACCTTTGCCCACAGCCGTTTCTGGAGTTTCTACCTAGGGTAAGCAGGGTGTGTTATCGGAAGCGAATGTTAAGCAGGGTGTGTTATGGGAAGCGAATATTGCGCAGAGAGGGATCAGGTGGGACTCCAGGCCCAGAAAAGACCAGACCCAGGCCTGCTCCACTTCTCACGCCCCTCCACTCACTGCCACCCAAGCAGTGGATGCCCCTCTAATAGGGTGGCCAACTTGCCCCAGTTCCCCAGGGACTTTCCCAGTTTCAGCACTGAACATCCCGAATCCCAGGAAGCCCCTTGGTTCTGGGCACACCGGGTGGTTGGTCACACCCAGGCCTCCAGACCCTGTACTCCA	G	G143316262A	CLCN1	NM_000083.3(CLCN1):c.50_434-202del	coding	Pathogenic
7	143319771	AAGAACAATTCTCAGAC	A	A143319774G	CLCN1	NM_000083.3(CLCN1):c.200_215del:p.Glu67fs	coding	Pathogenic
7	143320553	TTC	T	C143320585G	CLCN1	NM_000083.3(CLCN1):c.302-110TC[15]	noncoding	Benign
7	143320553	TTCTC	T	C143320583G	CLCN1	NM_000083.3(CLCN1):c.302-110TC[14]	noncoding	Benign
7	143320553	T	TTC	G143320587C	CLCN1	NM_000083.3(CLCN1):c.302-110TC[17]	noncoding	Benign
7	143320719	CT	C	T143320722C	CLCN1	NM_000083.3(CLCN1):c.360del:p.Leu121fs	coding	Pathogenic
7	143320739	T	TG	C143320741G	CLCN1	NM_000083.3(CLCN1):c.378dup:p.Leu127fs	coding	Pathogenic/Likely_pathogenic
7	143320772	AC	GGA	A143320772G	CLCN1	NM_000083.3(CLCN1):c.410_411delinsGGA:p.Tyr137fs	coding	Pathogenic
7	143331240	A	AC	T143331242C	CLCN1	NM_000083.3(CLCN1):c.989dup:p.Ala331fs	coding	Pathogenic
7	143332739	G	GC	A143332742C	CLCN1	NM_000083.3(CLCN1):c.1269dup:p.Ile424fs	coding	Pathogenic
7	143332752	TG	T	G143332753T	CLCN1	NM_000083.3(CLCN1):c.1281del:p.Leu427fs	coding	Pathogenic
7	143332758	AC	A	C143332759A	CLCN1	NM_000083.3(CLCN1):c.1287del:p.Asp429fs	coding	Pathogenic
7	143339306	GC	G	C143339308T	CLCN1	NM_000083.3(CLCN1):c.1457del:p.Pro486fs	coding	Pathogenic
7	143342136	AGC	A	G143342137T	CLCN1	NM_000083.3(CLCN1):c.1791_1792del:p.Gln597fs	coding	Pathogenic
7	143342482	CTT	C	T143342484A	CLCN1	NM_000083.3(CLCN1):c.1909_1910del:p.Leu637fs	coding	Pathogenic
7	143345634	TC	T	C143345635G	CLCN1	NM_000083.3(CLCN1):c.2045del:p.Ser682fs	coding	Pathogenic
7	143345737	A	AC	G143345739C	CLCN1	NM_000083.3(CLCN1):c.2148dup:p.Glu717fs	coding	Pathogenic
7	143346184	GT	G	T143346185C	CLCN1	NM_000083.3(CLCN1):c.2218del:p.Ser740fs	coding	Pathogenic
7	143350638	TC	T	C143350640T	CLCN1	NM_000083.3(CLCN1):c.2581del:p.Leu861fs	coding	Pathogenic
7	143350780	C	CT	G143350795T	CLCN1	NM_000083.3(CLCN1):c.2595+140dup	noncoding	Benign
7	143350780	CT	C	T143350794G	CLCN1	NM_000083.3(CLCN1):c.2595+140del	noncoding	Benign
7	143350780	CTT	C	T143350793G	CLCN1	NM_000083.3(CLCN1):c.2595+139_2595+140del	noncoding	Benign
7	144397274	G	GC	T144397277C	NOBOX	NM_001080413.3(NOBOX):c.2041dup:p.Ala681fs	coding	Pathogenic
7	144398378	TAAAG	T	A144398380G	NOBOX	NM_001080413.3(NOBOX):c.1674_1677del:p.Phe559fs	coding	Pathogenic
7	144399779	CA	C	A144399780G	NOBOX	NM_001080413.3(NOBOX):c.1131del:p.Gly378fs	coding	Pathogenic
7	144453675	TA	T	A144453677G	TPK1	NM_022445.4(TPK1):c.614-13del	noncoding	Benign/Likely_benign
7	144548427	A	AAAGAAAGCAAGC	A144548435C	TPK1	NM_022445.4(TPK1):c.613+63_613+64insCTTTCTTGCTTG	noncoding	Benign
7	144548450	GAA	G	A144548460T	TPK1	NM_022445.4(TPK1):c.613+39_613+40del	noncoding	Benign
7	144548450	GA	G	A144548461T	TPK1	NM_022445.4(TPK1):c.613+40del	noncoding	Benign
7	144623280	G	GA	G144623285A	TPK1	NM_022445.4(TPK1):c.259-20dup	noncoding	Benign
7	144648639	TG	T	G144648640T	TPK1	NM_022445.4(TPK1):c.258+167del	noncoding	Benign
7	144648821	AT	A	T144648823C	TPK1	NM_022445.4(TPK1):c.243del:p.Glu81fs	coding	Pathogenic
7	144682911	TTCTC	T	T144682918C	TPK1	NM_022445.4(TPK1):c.179_182del:p.Arg60fs	coding	Pathogenic
7	144835625	TA	T	A144835637G	TPK1	NM_022445.4(TPK1):c.-16-8del	noncoding	Benign
7	144835625	T	TA	G144835638A	TPK1	NM_022445.4(TPK1):c.-16-19dup	noncoding	Benign
7	144835736	A	AG	A144835739G	TPK1	NM_022445.4(TPK1):c.-16-120dup	noncoding	Benign
7	146116214	TGGCGGC	T	G146116234T	CNTNAP2	Single_allele	noncoding	Benign
7	146774446	C	CAT	A146774460T	CNTNAP2	NM_014141.6(CNTNAP2):c.208+66AT[7]	noncoding	Benign
7	147044201	C	CAT	A147044213T	CNTNAP2	NM_014141.6(CNTNAP2):c.550+148AT[6]	noncoding	Benign
7	147108128	A	AT	G147108140T	CNTNAP2	NM_014141.6(CNTNAP2):c.551-8dup	noncoding	Benign/Likely_benign
7	147108128	AT	A	T147108139G	CNTNAP2	NM_014141.6(CNTNAP2):c.551-8del	noncoding	Benign
7	147108132	T	TG	T147108133G	CNTNAP2	NM_014141.6(CNTNAP2):c.551-15_551-14insG	noncoding	Benign
7	147108241	C	CT	A147108245T	CNTNAP2	NM_014141.6(CNTNAP2):c.648dup:p.Lys217Ter	coding	Pathogenic
7	147108250	GT	G	T147108251C	CNTNAP2	NM_014141.6(CNTNAP2):c.655del:p.Ser219fs	coding	Pathogenic
7	147121006	G	GGA	C147121007G	CNTNAP2	NM_014141.6(CNTNAP2):c.782_783insGA:p.His262fs	coding	Pathogenic
7	147132453	TG	T	G147132456T	CNTNAP2	NM_014141.6(CNTNAP2):c.1295del:p.Gly432fs	coding	Pathogenic
7	147486186	CAAA	C	A147486197T	CNTNAP2	NM_014141.6(CNTNAP2):c.1777+156_1777+158del	noncoding	Benign
7	147486186	CAA	C	A147486198T	CNTNAP2	NM_014141.6(CNTNAP2):c.1777+157_1777+158del	noncoding	Benign
7	147562202	A	AG	A147562204G	CNTNAP2	NM_014141.6(CNTNAP2):c.1843dup:p.Asp615fs	coding	Pathogenic
7	147638841	C	CT	C147638855T	CNTNAP2	NM_014141.6(CNTNAP2):c.1898-252dup	noncoding	Benign
7	147639496	GA	G	A147639502T	CNTNAP2	NM_014141.6(CNTNAP2):c.2098+196del	noncoding	Benign
7	148118128	GA	G	A148118130T	CNTNAP2	NM_014141.6(CNTNAP2):c.2396del:p.Asn799fs	coding	Pathogenic
7	148147770	C	CA	T148147786A	CNTNAP2	NM_014141.6(CNTNAP2):c.2773+76dup	noncoding	Benign
7	148172387	CTG	C	T148172390A	CNTNAP2	NM_014141.6(CNTNAP2):c.2922_2923del:p.Cys974_Glu975delinsTer	coding	Pathogenic
7	148217108	C	CT	G148217122T	CNTNAP2	NM_014141.6(CNTNAP2):c.3011-167dup	noncoding	Benign
7	148416888	C	CTTAGT	A148416897G	CNTNAP2	NM_014141.6(CNTNAP2):c.*1276_*1280dup	noncoding	Benign/Likely_benign
7	148417027	A	ATTTCCAGAAAG	G148417039T	CNTNAP2	NM_014141.6(CNTNAP2):c.*1412_*1422dup	noncoding	Benign
7	148419600	A	ATT	G148419616T	CNTNAP2	NM_014141.6(CNTNAP2):c.*3998_*3999dup	noncoding	Benign
7	148807690	C	CATCAGCCT	G148807699A	EZH2	NM_004456.5(EZH2):c.2204_2211dup:p.Ala738fs	coding	Pathogenic
7	148807814	TAAAAAAA	T	A148807830C	EZH2	NM_004456.5(EZH2):c.2196-115_2196-109del	noncoding	Benign
7	148807814	TAAA	T	A148807834C	EZH2	NM_004456.5(EZH2):c.2196-111_2196-109del	noncoding	Benign
7	148807814	TAA	T	A148807835C	EZH2	NM_004456.5(EZH2):c.2196-110_2196-109del	noncoding	Benign
7	148807814	TA	T	A148807836C	EZH2	NM_004456.5(EZH2):c.2196-109del	noncoding	Benign
7	148809662	CA	C	A148809677T	EZH2	NM_004456.5(EZH2):c.2030-273del	noncoding	Benign
7	148829752	CATA	C	A148829755T	EZH2	NM_004456.5(EZH2):c.457_459del:p.Tyr153del	coding	Pathogenic
7	148846601	TA	T	A148846612T	EZH2	NM_004456.5(EZH2):c.118-4del	noncoding	Benign
7	148846838	CTG	C	G148846882A	EZH2	NM_004456.5(EZH2):c.118-284CA[21]	noncoding	Benign
7	148846838	CTGTG	C	G148846880A	EZH2	NM_004456.5(EZH2):c.118-284CA[20]	noncoding	Benign
7	148846838	CTGTGTG	C	G148846878A	EZH2	NM_004456.5(EZH2):c.118-284CA[19]	noncoding	Benign
7	148846838	CTGTGTGTG	C	G148846876A	EZH2	NM_004456.5(EZH2):c.118-284CA[18]	noncoding	Benign
7	148846838	CTGTGTGTGTG	C	G148846874A	EZH2	NM_004456.5(EZH2):c.118-284CA[17]	noncoding	Benign
7	148846838	CTGTGTGTGTGTG	C	G148846872A	EZH2	NM_004456.5(EZH2):c.118-284CA[16]	noncoding	Benign
7	148846884	AT	A	T148846895A	EZH2	NM_004456.5(EZH2):c.118-287del	noncoding	Benign
7	150945386	G	GT	G150945388T	KCNH2	NM_000238.4(KCNH2):c.3458dup:p.His1153fs	coding	Pathogenic
7	150946951	G	GC	G150946956C	KCNH2	NM_000238.4(KCNH2):c.3255dup:p.Pro1086fs	coding	Pathogenic
7	150947370	T	TCGCCC	G150947378C	KCNH2	NM_000238.4(KCNH2):c.3105_3109dup:p.Asp1037fs	coding	Pathogenic
7	150947371	CGCCCCGGG	C	C150947375G	KCNH2	NM_000238.4(KCNH2):c.3101_3108del:p.Pro1034fs	coding	Pathogenic
7	150947373	C	CCCCGGGGCCG	G150947386C	KCNH2	NM_000238.4(KCNH2):c.3097_3106dup:p.Gly1036fs	coding	Pathogenic
7	150947373	C	CCCCGGGG	G150947383C	KCNH2	NM_000238.4(KCNH2):c.3100_3106dup:p.Gly1036fs	coding	Pathogenic
7	150947380	GCCGCCGACCCGGGC	G	C150947381T	KCNH2	NM_000238.4(KCNH2):c.3086_3099del:p.Ser1029fs	coding	Pathogenic
7	150947380	GCCGC	G	C150947382G	KCNH2	NM_000238.4(KCNH2):c.3096_3099del:p.Arg1033fs	coding	Pathogenic
7	150947385	CGA	C	G150947386C	KCNH2	NM_000238.4(KCNH2):c.3093_3094del:p.Arg1032fs	coding	Pathogenic
7	150947387	AC	A	C150947390G	KCNH2	NM_000238.4(KCNH2):c.3092del:p.Gly1031fs	coding	Pathogenic/Likely_pathogenic
7	150947392	G	GGC	T150947395G	KCNH2	NM_000238.4(KCNH2):c.3086_3087dup:p.Pro1030fs	coding	Pathogenic
7	150947440	GA	G	A150947441G	KCNH2	NM_000238.4(KCNH2):c.3039del:p.Arg1014fs	coding	Pathogenic
7	150947447	CT	C	T150947448C	KCNH2	NM_000238.4(KCNH2):c.3032del:p.Glu1011fs	coding	Pathogenic
7	150947629	C	CTGCTCTTCTCG	C150947641T	KCNH2	NM_000238.4(KCNH2):c.2931_2941dup:p.Ser981fs	coding	Pathogenic
7	150947639	C	CGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCTCCAG	A150947704C	KCNH2	NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC:p.Glu978fs	coding	Pathogenic
7	150947667	C	CG	C150947670G	KCNH2	NM_000238.4(KCNH2):c.2903dup:p.Gly970fs	coding	Pathogenic
7	150947667	C	CGGCG	C150947673G	KCNH2	NM_000238.4(KCNH2):c.2900_2903dup:p.Gly969fs	coding	Pathogenic
7	150947676	TC	T	C150947678G	KCNH2	NM_000238.4(KCNH2):c.2894del:p.Gly965fs	coding	Pathogenic
7	150947713	AG	A	G150947718C	KCNH2	NM_000238.4(KCNH2):c.2857del:p.Leu953fs	coding	Pathogenic
7	150947785	T	TC	A150947792C	KCNH2	NM_000238.4(KCNH2):c.2785dup:p.Glu929fs	coding	Pathogenic/Likely_pathogenic
7	150947795	GC	G	C150947802G	KCNH2	NM_000238.4(KCNH2):c.2775del:p.Pro926fs	coding	Pathogenic
7	150947796	CC	A	C150947796A	KCNH2	NM_000238.4(KCNH2):c.2774_2775delinsT:p.Gly925fs	coding	Pathogenic
7	150947804	GC	G	C150947806G	KCNH2	NM_000238.4(KCNH2):c.2766del:p.Pro923fs	coding	Pathogenic/Likely_pathogenic
7	150947808	G	GC	G150947813C	KCNH2	NM_000238.4(KCNH2):c.2762dup:p.Arg922fs	coding	Pathogenic
7	150947814	G	GCTACTCGGCCCTGCCCCCGCCCGGCC	G150947842T	KCNH2	NM_000238.4(KCNH2):c.2731_2756dup:p.Ser919fs	coding	Pathogenic
7	150947819	TCGGCCCTGCCCCCGCC	T	T150947826G	KCNH2	NM_000238.4(KCNH2):c.2736_2751del:p.Ala913fs	coding	Pathogenic
7	150947826	TGCCCCCGCCCGGCCCG	T	C150947832A	KCNH2	NM_000238.4(KCNH2):c.2729_2744del:p.Pro910fs	coding	Pathogenic
7	150947827	GC	G	C150947832G	KCNH2	NM_000238.4(KCNH2):c.2743del:p.Ala915fs	coding	Pathogenic
7	150947836	C	CG	C150947839G	KCNH2	NM_000238.4(KCNH2):c.2734dup:p.Arg912fs	coding	Pathogenic
7	150948450	C	CCGTG	C150948457T	KCNH2	NM_000238.4(KCNH2):c.2682_2685dup:p.Asp896fs	coding	Pathogenic
7	150948451	CG	C	G150948452T	KCNH2	NM_000238.4(KCNH2):c.2684del:p.Thr895fs	coding	Pathogenic
7	150948455	C	CGCCTG	C150948461G	KCNH2	NM_000238.4(KCNH2):c.2676_2680dup:p.Arg894fs	coding	Pathogenic
7	150948456	G	GCCTGC	G150948462C	KCNH2	NM_000238.4(KCNH2):c.2675_2679dup:p.Arg894fs	coding	Pathogenic
7	150948488	CG	C	G150948489A	KCNH2	NM_000238.4(KCNH2):c.2647del:p.Arg883fs	coding	Pathogenic
7	150948880	C	CA	G150948882A	KCNH2	NM_000238.4(KCNH2):c.2567dup:p.Glu857fs	coding	Pathogenic
7	150948892	GA	G	A150948894G	KCNH2	NM_000238.4(KCNH2):c.2555del:p.Phe852fs	coding	Pathogenic
7	150948910	AGG	A	G150948912T	KCNH2	NM_000238.4(KCNH2):c.2536_2537del:p.Tyr845_Pro846insTer	coding	Pathogenic
7	150949076	CT	C	T150949077C	KCNH2	NM_000238.4(KCNH2):c.2399-28del	noncoding	Pathogenic
7	150950189	C	CG	C150950191G	KCNH2	NM_000238.4(KCNH2):c.2376dup:p.Asp793fs	coding	Pathogenic
7	150950365	C	CGGCT	T150950368C	KCNH2	NM_000238.4(KCNH2):c.2200_2201insAGCC:p.Arg734fs	coding	Pathogenic
7	150950822	T	TG	T150950824G	KCNH2	NM_000238.4(KCNH2):c.2145+98dup	noncoding	Benign
7	150950824	T	TG	A150950826G	KCNH2	NM_000238.4(KCNH2):c.2145+96dup	noncoding	Benign
7	150950944	T	TGTAG	A150950950T	KCNH2	NM_000238.4(KCNH2):c.2118_2121dup:p.Thr708fs	coding	Pathogenic
7	150950957	GT	G	T150950958G	KCNH2	NM_000238.4(KCNH2):c.2108del:p.His703fs	coding	Pathogenic
7	150951082	TG	T	G150951084C	KCNH2	NM_000238.4(KCNH2):c.1983del:p.Ile662fs	coding	Pathogenic/Likely_pathogenic
7	150951106	TAGCAT	A	T150951106A	KCNH2	NM_000238.4(KCNH2):c.1955_1960delinsT:p.Tyr652fs	coding	Pathogenic
7	150951351	A	AG	C150951355G	KCNH2	NM_000238.4(KCNH2):c.1945+96dup	noncoding	Benign
7	150951573	AT	A	T150951574G	KCNH2	NM_000238.4(KCNH2):c.1819del:p.Ile607fs	coding	Pathogenic
7	150951592	CG	C	G150951593C	KCNH2	NM_000238.4(KCNH2):c.1800del:p.Ser600fs	coding	Pathogenic
7	150951650	TG	T	G150951651A	KCNH2	NM_000238.4(KCNH2):c.1742del:p.Ser581fs	coding	Pathogenic
7	150951681	A	ATGGCG	A150951688G	KCNH2	NM_000238.4(KCNH2):c.1707_1711dup:p.Ile571fs	coding	Pathogenic
7	150951731	CAT	C	A150951732G	KCNH2	NM_000238.4(KCNH2):c.1660_1661del:p.Met554fs	coding	Pathogenic
7	150951763	C	CT	G150951765T	KCNH2	NM_000238.4(KCNH2):c.1629dup:p.Glu544fs	coding	Pathogenic
7	150951789	ACGCGCACCAGCCGCAGCAGCCG	A	G150951793A	KCNH2	NM_000238.4(KCNH2):c.1582_1603del:p.Arg528fs	coding	Pathogenic
7	150952171	GA	G	A150952178G	KCNH2	NM_000238.4(KCNH2):c.1557+253del	noncoding	Benign
7	150952298	G	GTCTTTCTC	C150952318T	KCNH2	NM_000238.4(KCNH2):c.1557+111GAGAAAGA[3]	noncoding	Benign
7	150952509	GACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGT	G	A150952510G	KCNH2	NM_000238.4(KCNH2):c.1420_1472del:p.Thr474fs	coding	Pathogenic
7	150952596	C	CA	T150952598A	KCNH2	NM_000238.4(KCNH2):c.1385dup:p.Met462fs	coding	Pathogenic
7	150952677	CTCCTTCA	C	T150952678G	KCNH2	NM_000238.4(KCNH2):c.1298_1304del:p.Leu433fs	coding	Pathogenic
7	150957235	AC	A	C150957240T	KCNH2	NM_000238.4(KCNH2):c.1128+55del	noncoding	Benign
7	150957462	GGT	G	T150957464G	KCNH2	NM_000238.4(KCNH2):c.955_956del:p.Thr319fs	coding	Pathogenic
7	150957534	A	AG	C150957536G	KCNH2	NM_000238.4(KCNH2):c.917-33dup	noncoding	Benign
7	150958070	TGGCGCGGTGGCGG	T	C150958073G	KCNH2	NM_000238.4(KCNH2):c.892_904del:p.Pro298fs	coding	Pathogenic
7	150958081	CG	C	G150958086C	KCNH2	NM_000238.4(KCNH2):c.893del:p.Pro298fs	coding	Pathogenic
7	150958105	G	GGCCTC	A150958112C	KCNH2	NM_000238.4(KCNH2):c.865_869dup:p.Met291fs	coding	Pathogenic
7	150958153	TTCTCGGGAGCGCG	T	T150958156C	KCNH2	NM_000238.4(KCNH2):c.809_821del:p.Thr270fs	coding	Pathogenic
7	150958169	CG	C	G150958172C	KCNH2	NM_000238.4(KCNH2):c.805del:p.Arg269fs	coding	Pathogenic
7	150958185	TGGAGCCCGAGGCGTCG	T	A150958188G	KCNH2	NM_000238.4(KCNH2):c.774_789del:p.Asp259fs	coding	Pathogenic
7	150958239	C	CG	C150958243G	KCNH2	NM_000238.4(KCNH2):c.735dup:p.Gly246fs	coding	Pathogenic
7	150958305	CT	C	T150958306G	KCNH2	NM_000238.4(KCNH2):c.669del:p.Leu225fs	coding	Pathogenic
7	150958417	G	GC	G150958421C	KCNH2	NM_000238.4(KCNH2):c.557dup:p.Gly187fs	coding	Pathogenic
7	150958418	CCCGCGCCGCCCGA	C	G150958423A	KCNH2	NM_000238.4(KCNH2):c.544_556del:p.Ser182fs	coding	Pathogenic
7	150958423	G	GCCGCCCGA	A150958436C	KCNH2	NM_000238.4(KCNH2):c.544_551dup:p.Ala185fs	coding	Pathogenic/Likely_pathogenic
7	150959576	GGCCA	G	C150959583T	KCNH2	NM_000238.4(KCNH2):c.464_467del:p.Leu155fs	coding	Pathogenic
7	150959579	CA	C	A150959580G	KCNH2	NM_000238.4(KCNH2):c.464del:p.Leu155fs	coding	Pathogenic
7	150959621	C	CG	A150959626G	KCNH2	NM_000238.4(KCNH2):c.422dup:p.Ala142fs	coding	Pathogenic
7	150959625	GA	G	A150959626C	KCNH2	NM_000238.4(KCNH2):c.418del:p.Ser140fs	coding	Pathogenic
7	150959646	AT	A	T150959647C	KCNH2	NM_000238.4(KCNH2):c.397del:p.Met133fs	coding	Pathogenic
7	150974709	AC	A	C150974711A	KCNH2	NM_000238.4(KCNH2):c.307+1del	noncoding	Pathogenic
7	150974746	TCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAG	T	C150974747G	KCNH2	NM_000238.4(KCNH2):c.205_271del:p.Leu69fs	coding	Pathogenic
7	150974775	CTGCGCGGCAGCGCGGCGCTGCG	C	A150974784C	KCNH2	NM_000238.4(KCNH2):c.221_242del:p.Thr74fs	coding	Pathogenic/Likely_pathogenic
7	150974784	AGCGCGGCGCTGCGT	A	G150974792C	KCNH2	NM_000238.4(KCNH2):c.220_233del:p.Thr74fs	coding	Pathogenic
7	150974788	CG	A	C150974788A	KCNH2	NM_000238.4(KCNH2):c.229_230delinsT:p.Arg77fs	coding	Pathogenic
7	150974807	C	CGTGCAGGAAGTCGCAG	G150974831A	KCNH2	NM_000238.4(KCNH2):c.195_210dup:p.Gly71fs	coding	Pathogenic
7	150977872	GA	G	A150977874G	KCNH2	NM_000238.4(KCNH2):c.41del:p.Phe14fs	coding	Pathogenic
7	150977933	C	CA	G150977934A	KCNH2	NM_000238.4(KCNH2):c.-21_-20insT	noncoding	Benign
7	150978402	T	TC	A150978412C	KCNH2	Single_allele	noncoding	Benign
7	151002383	AACACAC	A	A151002448G	NOS3	NM_000603.5(NOS3):c.1752+80AC[32]	noncoding	Benign
7	151002383	AACACACACAC	A	A151002444G	NOS3	NM_000603.5(NOS3):c.1752+80AC[30]	noncoding	Benign
7	151002383	AACACACACACAC	A	A151002442G	NOS3	NM_000603.5(NOS3):c.1752+80AC[29]	noncoding	Benign
7	151006654	C	CT	A151006655T	NOS3	NM_000603.5(NOS3):c.1820+160_1820+161insT	noncoding	Benign
7	151009348	G	GC	A151009354C	NOS3	NM_000603.5(NOS3):c.2325-45dup	noncoding	Benign
7	151055383	A	AC	G151055392C	CDK5	NM_004935.4(CDK5):c.484-11dup	noncoding	Benign
7	151181614	CT	C	T151181630G	ASB10	NM_001142459.2(ASB10):c.585-157del	noncoding	Benign
7	151570151	GA	G	A151570161C	PRKAG2	NM_016203.4(PRKAG2):c.1106+19del	noncoding	Benign
7	151570151	G	GA	C151570162A	PRKAG2	NM_016203.4(PRKAG2):c.1106+10dup	noncoding	Benign
7	151572717	TA	T	A151572724T	PRKAG2	NM_016203.4(PRKAG2):c.1006-9del	noncoding	Benign
7	151572717	T	TA	T151572725A	PRKAG2	NM_016203.4(PRKAG2):c.1006-9dup	noncoding	Benign/Likely_benign
7	151576525	AG	A	G151576527T	PRKAG2	NM_016203.4(PRKAG2):c.865-74del	noncoding	Benign
7	151595309	A	AT	A151595310T	PRKAG2	NM_016203.4(PRKAG2):c.864+35_864+36insA	noncoding	Benign/Likely_benign
7	151632055	C	CG	C151632060G	PRKAG2	NM_016203.4(PRKAG2):c.754+13dup	noncoding	Benign/Likely_benign
7	152139793	TAA	T	A152139800G	KMT2C	NM_170606.3(KMT2C):c.14344-4_14344-3del	noncoding	Benign
7	152176909	AT	A	T152176911A	KMT2C	NM_170606.3(KMT2C):c.8543del:p.Asn2848fs	coding	Pathogenic
7	152178011	C	CT	A152178016T	KMT2C	NM_170606.3(KMT2C):c.7443-2dup	coding	Benign
7	152178015	TAAAAAAAAAAAAA	T	A152178030G	KMT2C	NM_170606.3(KMT2C):c.7443-18_7443-6del	noncoding	Benign
7	152178015	TAAAAAAA	T	A152178036G	KMT2C	NM_170606.3(KMT2C):c.7443-12_7443-6del	noncoding	Benign
7	152178015	TAA	T	A152178041G	KMT2C	NM_170606.3(KMT2C):c.7443-7_7443-6del	noncoding	Benign
7	152178015	TA	T	A152178042G	KMT2C	NM_170606.3(KMT2C):c.7443-6del	noncoding	Benign
7	152178015	T	TTAAAAAA	A152178016T	KMT2C	NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTA	noncoding	Benign/Likely_benign
7	152179844	GA	G	A152179845G	KMT2C	NM_170606.3(KMT2C):c.7431del:p.His2478fs	coding	Pathogenic
7	152180920	CAA	C	A152180923G	KMT2C	NM_170606.3(KMT2C):c.6938_6939del:p.Phe2313fs	coding	Pathogenic
7	152181286	TAACA	T	A152181292G	KMT2C	NM_170606.3(KMT2C):c.6570_6573del:p.Phe2190fs	coding	Pathogenic
7	152181410	TC	T	C152181412T	KMT2C	NM_170606.3(KMT2C):c.6449del:p.Gly2150fs	coding	Pathogenic
7	152185537	TAG	T	A152185540G	KMT2C	NM_170606.3(KMT2C):c.5082+19_5082+20del	noncoding	Benign
7	152194273	TA	T	A152194285G	KMT2C	NM_170606.3(KMT2C):c.4508-13del	noncoding	Benign
7	152194273	T	TAA	G152194286A	KMT2C	NM_170606.3(KMT2C):c.4508-14_4508-13dup	noncoding	Benign
7	152194273	T	TA	G152194286A	KMT2C	NM_170606.3(KMT2C):c.4508-13dup	noncoding	Benign
7	152222074	GA	G	A152222085T	KMT2C	NM_170606.3(KMT2C):c.3434-9del	noncoding	Benign
7	152224507	TCA	T	C152224510G	KMT2C	NM_170606.3(KMT2C):c.3084_3085del:p.Cys1028_Asp1029delinsTer	coding	Pathogenic
7	152230258	C	CAACT	G152230263A	KMT2C	NM_170606.3(KMT2C):c.2829_2832dup:p.Val945fs	coding	Pathogenic
7	152247900	AC	A	C152247902T	KMT2C	NM_170606.3(KMT2C):c.2532+1del	noncoding	Pathogenic
7	152252546	CT	C	T152252550G	KMT2C	NM_170606.3(KMT2C):c.1468del:p.Arg490fs	coding	Pathogenic
7	152262992	AAAAT	A	T152263004C	KMT2C	NM_170606.3(KMT2C):c.1299+12ATTT[2]	noncoding	Benign
7	152311949	GAAAAT	G	A152311962C	KMT2C	NM_170606.3(KMT2C):c.591-18ATTTT[2]	noncoding	Benign
7	152358681	GA	G	A152358694T	KMT2C	NM_170606.3(KMT2C):c.162-7del	noncoding	Benign
7	152660692	A	AT	A152660699T	XRCC2	NM_005431.2(XRCC2):c.121+3dup	noncoding	Benign/Likely_benign
7	154052720	CT	C	T154052733A	DPP6	NM_130797.4(DPP6):c.-88del	coding	Benign
7	154052986	C	CGCG	C154053008G	DPP6	NM_130797.4(DPP6):c.167GCG[8]:p.Gly62dup	coding	Benign/Likely_benign
7	154053075	TC	T	C154053076G	DPP6	NM_130797.4(DPP6):c.243+13del	noncoding	Benign
7	154053234	G	GC	G154053236C	DPP6	NM_130797.4(DPP6):c.243+172dup	noncoding	Benign
7	154305018	TCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAG	T	C154305046G	DPP6	NM_130797.4(DPP6):c.244-141195CCCCAG[4]	noncoding	Benign
7	154305018	TCCCCAGCCCCAGCCCCAGCCCCAGCCCCAG	T	C154305058G	DPP6	NM_130797.4(DPP6):c.244-141195CCCCAG[6]	noncoding	Benign
7	154305018	TCCCCAGCCCCAGCCCCAGCCCCAG	T	C154305064G	DPP6	NM_130797.4(DPP6):c.244-141195CCCCAG[7]	noncoding	Benign
7	154305018	TCCCCAGCCCCAGCCCCAG	T	C154305070G	DPP6	NM_130797.4(DPP6):c.244-141195CCCCAG[8]	noncoding	Benign
7	154669538	TTGTG	T	G154669564A	DPP6	NM_130797.4(DPP6):c.762+98TG[12]	noncoding	Benign
7	154669538	TTGTGTG	T	G154669562A	DPP6	NM_130797.4(DPP6):c.762+98TG[11]	noncoding	Benign
7	154772967	CA	C	A154772982C	DPP6	NM_130797.4(DPP6):c.1136+40del	noncoding	Benign
7	154795784	C	CA	G154795797A	DPP6	NM_130797.4(DPP6):c.1261-49dup	noncoding	Benign
7	154795792	AAAAAGAAAAG	A	G154795802A	DPP6	NM_130797.4(DPP6):c.1261-43_1261-34del	noncoding	Benign
7	154795793	AAAAGAAAAG	A	G154795797A	DPP6	NM_130797.4(DPP6):c.1261-48_1261-40del	noncoding	Benign
7	154853709	G	GTTTTC	G154853717T	DPP6	NM_130797.4(DPP6):c.1667-68_1667-64dup	noncoding	Benign
7	155802776	A	ATTATTC	A155802794C	SHH	NM_000193.4(SHH):c.*112GAATAA[3]	coding	Benign
7	156724307	T	TG	A156724308G	LMBR1	NM_022458.4(LMBR1):c.1159-130_1159-129insC	noncoding	Benign
7	156728716	CCTCT	C	C156728719A	LMBR1	NC_000007.13:g.156521411_156521414delCTCT	coding	Pathogenic
7	156761976	C	CAAAAAAAAAAAAA	C156761993A	LMBR1	NM_022458.4(LMBR1):c.684+142_684+154dup	noncoding	Benign
7	156761976	C	CAA	C156761993A	LMBR1	NM_022458.4(LMBR1):c.684+142_684+143dup	noncoding	Benign
7	156761976	C	CA	C156761993A	LMBR1	NM_022458.4(LMBR1):c.684+142dup	noncoding	Benign
7	156762832	AGTGT	A	T156762836A	LMBR1	NM_022458.4(LMBR1):c.619+272_619+275del	noncoding	Benign
7	156763444	CA	C	A156763456T	LMBR1	NM_022458.4(LMBR1):c.550+224del	noncoding	Benign
7	156764005	C	CA	T156764014A	LMBR1;SHH	NM_022458.4(LMBR1):c.424-218dup	noncoding	Benign/Likely_benign
7	156789385	TGTTA	T	T156789388G	SHH	NM_022458.4(LMBR1):c.423+7000_423+7003del	noncoding	Benign
7	156791327	C	CA	C156791334A	LMBR1	NM_022458.4(LMBR1):c.423+5061dup	noncoding	Benign
7	156833579	ATTG	A	T156833580G	LMBR1	NM_022458.4(LMBR1):c.179+171_179+173del	noncoding	Benign
7	156833583	G	GAACCAGTGCTAA	T156833585A	LMBR1	NM_022458.4(LMBR1):c.179+169_179+170insTTTAGCACTGGT	noncoding	Benign
7	156892698	CG	C	G156892705C	LMBR1	NM_022458.4(LMBR1):c.66+229del	noncoding	Benign
7	156892751	GAGGGA	G	A156892756G	LMBR1	NM_022458.4(LMBR1):c.66+172_66+176del	noncoding	Benign
7	156892844	TCCGGGGA	T	A156892851G	LMBR1	NM_022458.4(LMBR1):c.66+77_66+83del	noncoding	Benign
7	156892851	A	AC	G156892854C	LMBR1	NM_022458.4(LMBR1):c.66+75dup	noncoding	Benign
7	156893207	T	TCGGGGGCGGGG	A156893231G	LMBR1	NM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCG	noncoding	Benign/Likely_benign
7	157005354	A	AG	C157005356G	MNX1	NM_005515.4(MNX1):c.*165dup	noncoding	Benign
7	157006578	CT	C	T157006579G	MNX1	NM_005515.4(MNX1):c.752del:p.Gln251fs	coding	Pathogenic
7	157009664	GA	G	A157009666G	MNX1	NM_005515.4(MNX1):c.686del:p.Phe229fs	coding	Pathogenic
7	157009741	CCAGCTTGATG	C	C157009742G	MNX1	NM_005515.4(MNX1):c.600_609del:p.Ile201fs	coding	Pathogenic
7	157009780	CT	C	T157009782G	MNX1	NM_005515.4(MNX1):c.570del:p.Gly191fs	coding	Pathogenic
7	157009856	G	GCCGTAGA	G157009867T	MNX1	NM_005515.4(MNX1):c.488_494dup:p.Tyr166fs	coding	Pathogenic
7	157009881	G	GC	G157009884C	MNX1	NM_005515.4(MNX1):c.469dup:p.Ala157fs	coding	Pathogenic
7	157009947	C	CCGGCGG	A157009949G	MNX1	NM_005515.4(MNX1):c.403_404insCCGCCG:p.Ala133_Ala134dup	coding	Benign
7	157009949	A	AGCG	A157009979G	MNX1	NM_005515.4(MNX1):c.375CGC[10]:p.Ala134dup	coding	Benign/Likely_benign
7	157009949	A	AGCGGCGGCG	A157009979G	MNX1	NM_005515.4(MNX1):c.375CGC[12]:p.Ala132_Ala134dup	coding	Benign
7	157009949	A	AGCGGCGGCGGCG	A157009979G	MNX1	NM_005515.4(MNX1):c.375CGC[13]:p.Ala131_Ala134dup	coding	Benign
7	157009949	AGCG	A	G157009976A	MNX1	NM_005515.4(MNX1):c.375CGC[8]:p.Ala134del	coding	Benign
7	157009978	C	CGGCGG	A157009979G	MNX1	NM_005515.4(MNX1):c.372_373insCCGCC:p.Ala125fs	coding	Pathogenic
7	157010010	TG	T	G157010014C	MNX1	NM_005515.4(MNX1):c.340del:p.His114fs	coding	Pathogenic
7	157010341	A	AT	C157010347T	MNX1	NM_005515.4(MNX1):c.9dup:p.Ser4fs	coding	Pathogenic
7	157010865	CA	C	A157010867C	MNX1	NR_038835.1(MNX1-AS1):n.11del	noncoding	Benign
7	157382128	CTTAAG	C	A157382131T	DNAJB6	NM_058246.4(DNAJB6):c.347-115_347-111del	noncoding	Benign
7	157382535	T	TTAA	C157382539T	DNAJB6	NM_058246.4(DNAJB6):c.478+159_478+161dup	noncoding	Benign
7	157385248	TTAAAATGG	T	T157385257A	DNAJB6	NM_058246.4(DNAJB6):c.620+249_620+256del	noncoding	Benign
7	157385841	A	AT	G157385852T	DNAJB6	NM_058246.4(DNAJB6):c.691+240dup	coding	Benign
7	158869820	T	TTTTAAAC	A158869828T	DYNC2I1	NM_018051.5(DYNC2I1):c.16-34_16-28dup	noncoding	Benign
7	158871383	TGAA	T	A158871385G	DYNC2I1	NM_018051.5(DYNC2I1):c.313_315del:p.Lys105del	coding	Benign
7	158887057	T	TA	G158887061A	DYNC2I1	NM_018051.5(DYNC2I1):c.975dup:p.Asp326fs	coding	Pathogenic
7	158887252	AATTG	A	T158887258A	DYNC2I1	NM_018051.5(DYNC2I1):c.990+183_990+186del	noncoding	Benign
7	158934107	T	TC	T158934108C	DYNC2I1	NM_018051.5(DYNC2I1):c.2547-22_2547-21insC	noncoding	Benign
7	158934324	C	CT	A158934328T	DYNC2I1	NM_018051.5(DYNC2I1):c.2647-91dup	noncoding	Benign
8	1780264	GTC	G	C1780268G	CLN8	NM_018941.4(CLN8):c.562_563del:p.Leu188fs	coding	Pathogenic/Likely_pathogenic
8	1858143	A	AGTCCCCAGGTGGGTCCCCAGGTGG	A1858167G	ARHGEF10	NM_014629.4(ARHGEF10):c.193+51_193+52insGGTCCCCAGGTGGGTCCCCAGGTG	noncoding	Benign
8	1858167	A	AGGTGG	T1858169G	ARHGEF10	NM_014629.4(ARHGEF10):c.193+53_193+54insGTGGG	noncoding	Benign
8	1882758	C	CTGCGGGTCTTCT	A1882762G	ARHGEF10	NM_014629.4(ARHGEF10):c.1075+12_1075+13insGGGTCTTCTTGC	noncoding	Benign
8	1885588	C	CT	A1885598T	ARHGEF10	NM_014629.4(ARHGEF10):c.1076-4dup	noncoding	Benign
8	1896457	C	CT	C1896468T	ARHGEF10	NM_014629.4(ARHGEF10):c.1557+18dup	noncoding	Benign
8	1903092	GC	G	C1903093T	ARHGEF10	NM_014629.4(ARHGEF10):c.1651-188del	noncoding	Benign
8	6409281	G	GT	A6409283T	MCPH1	NM_024596.5(MCPH1):c.26dup:p.Val10fs	coding	Pathogenic
8	6438934	A	AT	G6438941T	MCPH1	NM_024596.5(MCPH1):c.437-13dup	noncoding	Benign
8	6438992	CA	C	A6438993T	MCPH1	NM_024596.5(MCPH1):c.477del:p.Ser159_Leu160insTer	coding	Pathogenic
8	6439372	T	TA	T6439382A	MCPH1	NM_024596.5(MCPH1):c.580+285dup	noncoding	Benign
8	6442069	TC	T	C6442072A	MCPH1	NM_024596.5(MCPH1):c.586del:p.Gln196fs	coding	Pathogenic
8	6477552	G	GA	T6477553A	MCPH1	NM_024596.5(MCPH1):c.1936-42_1936-41insA	noncoding	Benign
8	10612646	GC	G	C10612647T	RP1L1	NM_178857.6(RP1L1):c.1451del:p.Ser484fs	coding	Pathogenic/Likely_pathogenic
8	10616465	CAGCCCAGATA	C	G10616467A	RP1L1	NM_178857.6(RP1L1):c.722_731del:p.Thr240_Leu241insTer	coding	Pathogenic
8	11556931	CA	C	A11556932G	BLK	NM_001715.3(BLK):c.952+95del	noncoding	Benign
8	11756754	TA	T	A11756755G	GATA4	NM_001308093.3(GATA4):c.1001-180del	noncoding	Benign
8	11847658	GCCAGGCC	G	A11847668T	CTSB	NM_001908.5(CTSB):c.676+14_676+20del	noncoding	Benign
8	13085576	AT	A	T13085592G	DLC1	NM_182643.3(DLC1):c.*234del	noncoding	Benign
8	13090196	TG	T	G13090198A	DLC1	NM_182643.3(DLC1):c.4074+55del	noncoding	Benign
8	13092579	CCT	C	C13092580G	DLC1	NM_182643.3(DLC1):c.3740+31_3740+32del	noncoding	Benign
8	13094665	CA	C	A13094676G	DLC1	NM_182643.3(DLC1):c.3526+93del	noncoding	Benign
8	13100904	G	GT	A13100924T	DLC1	NM_182643.3(DLC1):c.1567-153dup	noncoding	Benign
8	13100904	GT	G	T13100923A	DLC1	NM_182643.3(DLC1):c.1567-135del	noncoding	Benign
8	13100904	GTT	G	T13100922A	DLC1	NM_182643.3(DLC1):c.1567-136_1567-135del	noncoding	Benign
8	13115463	A	AT	A13115472T	DLC1	NM_182643.3(DLC1):c.1420+115dup	noncoding	Benign
8	13499309	TT	CG	T13499309C	DLC1	NM_182643.3(DLC1):c.762_763delinsCG:p.Gln254_Asn255delinsHisAsp	coding	Benign
8	15622810	C	CT	A15622820T	TUSC3	NM_006765.4(TUSC3):c.139-261dup	noncoding	Benign
8	15650984	TACACACACAC	T	C15651014A	TUSC3	NM_006765.4(TUSC3):c.426+171AC[14]	noncoding	Benign
8	15650984	TACACACAC	T	C15651016A	TUSC3	NM_006765.4(TUSC3):c.426+171AC[15]	noncoding	Benign
8	15650984	TACACAC	T	C15651018A	TUSC3	NM_006765.4(TUSC3):c.426+171AC[16]	noncoding	Benign
8	15650984	TACAC	T	C15651020A	TUSC3	NM_006765.4(TUSC3):c.426+171AC[17]	noncoding	Benign
8	15662494	C	CTAAA	A15662495T	TUSC3	NM_006765.4(TUSC3):c.708+198_708+199insTAAA	noncoding	Benign
8	15673997	TACAC	T	C15674009A	TUSC3	NM_006765.4(TUSC3):c.798+162AC[5]	noncoding	Benign
8	15757670	CCT	C	C15757671G	TUSC3	NM_006765.4(TUSC3):c.1029-120_1029-119del	noncoding	Benign
8	17276187	CA	C	A17276197G	VPS37A	NM_152415.3(VPS37A):c.643-200del	noncoding	Benign
8	18057356	TA	T	A18057357G	ASAH1	NM_177924.5(ASAH1):c.*177del	noncoding	Benign
8	18057362	GA	G	A18057372G	ASAH1	NM_177924.5(ASAH1):c.*171del	noncoding	Benign
8	18057744	C	CTG	T18057746G	ASAH1	NM_177924.5(ASAH1):c.1099-122_1099-121insAC	noncoding	Benign
8	18058883	TGA	T	G18058886T	ASAH1	NM_177924.5(ASAH1):c.1048_1049del:p.Ser350fs	coding	Pathogenic
8	18059089	CT	C	T18059095A	ASAH1	NM_177924.5(ASAH1):c.1042-199del	noncoding	Benign
8	18059602	CGT	C	G18059605A	ASAH1	NM_177924.5(ASAH1):c.885_886del:p.Asp297fs	coding	Pathogenic
8	18061738	TC	T	C18061741T	ASAH1	NC_000008.10:g.17919248del	coding	Pathogenic
8	18064457	C	CT	G18064464T	ASAH1	NM_177924.5(ASAH1):c.456dup:p.Gly153fs	coding	Pathogenic
8	18064504	T	TAAAAAATATTGAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATCACGAGTACACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A18064521G	ASAH1	NM_177924.5(ASAH1):c.409_410insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGTACTCGTGATCCTCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCATTCAATATTTTTT:p.Tyr137fs	coding	Pathogenic
8	18064525	ATC	A	T18064530C	ASAH1	NM_177924.5(ASAH1):c.387_388del:p.Glu129fs	coding	Pathogenic
8	18064603	AGTTTCAGT	A	C18064608T	ASAH1	NM_177924.5(ASAH1):c.383-80_383-73del	noncoding	Benign
8	18065860	TGATTGTATATACAGATACACATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATGTATTGTATATTTATATCAAAGACACCACTGCAATTTGCTGAGGAAAGGATAGCCTTTTGAATTGATGCTGTTTAACTAACTGGATATACCACATGAGAAAAACCTGAAGCTTGACCCATAAGTCATAGCATATACAAAAATAATTCAAAATAGATGATAGGCCTAAATGTAAAAAGTAAACATTAAACATCTAGAAGAAAATATATAAGCATATATATATGACTTTGGGGTAGGCCAAGATTCCTTAAATGGATACAAAAGGCACTACTCATAAAAGAGAAGACTGAGATATTAGACTTCACTAAAATTAAAAATTTCTGTTCATCAAAAGACAAAAGTAAGAGAATAAAAATGAAGGTCATAGACTGGGAGCAGATATTCAGAATCCATATATCTGACAAAGGGCTTATATTCAAAGTATGTAAAAAATTCCTTCAATCTAATTTTTAAAAGGGCAAAAGACCTTCACAAGCCCTTCTCCAAAAGAAACAAAGAAAACCAAAAAAAAAAAAAAAAAGTCAATAAACTGTTCAATCTCATTAATCATCAAGGAAATGCAAATTGAAACTAAAATGCGATACTGCGACACTCAACAAAAAGGCTCAAATAAAGATTGACACTAACAAAAAAAAAGGAAAAAAAAAGACTGACACTATCGAGAGGAGAATTATCAAGAGGAGAAAACTGAAACTCTCATACTCTGCTGATTGTCAACTGCTGGAATCACTTTGGAAAACTGTTTGGCAGAATCTATAAGGCTAAACACACAATTACTCTATAACACAACAGTTCACTTCCTAGGTATATATCCAGAAAATGAGTACCCAGACACCCCCAAAATGTACTACAATATTTATAATTCCTTTATTGTTAATATCACAAATCTGAAAACCACCCAAATACCCTGTTGATACAATAGCACACCACCCATAATGAAATACAAGAAATCACACAGGACAGTTCATATTGTTCAGTTCTATTTATACAAAGTTCACGAAGAGGCAAAACTAATCTATAGTGACATCAGAATAGTGTTTACTGGAGGAGGCAGTATTTTCTGCAAAGGGGCATGATGGAGCATCGTGGAGTGCTGGGCTCTTCCGTATCTTGATCTGAGTCATGGCTACATGCATGCATGCATTTCTGAAGCTTCACTGAGCTGTATATCTAAGACCTGTGCACCTGTGCTGTATATCTAAGACATACAGCACCTGTGCTGTATGTATATCACACCTCAATGGAAACTTGTAAAAGAATTTAATTACTTTTTTTTTTAAAGCTTCTAAGTGAACTTTACCTAAAGGTATATCAGTAACAGCGGCAATACCCTTCATTTCCTCTTCAAAAGGGCCAGGAAAGTTGCCAAGTAGGCCAGGCTGGAAAACAAATATATTAATAAAAGCATTTAACATAATAACAATAAAAAATATATAATATAATATAAACAAATATAATAAAAGCATGCTTTGAAATCTAGTTCTTGGACATATAATTTTTTCTAGATACTGCTATCATAATAAGTGATAGGAATTATTTTTTAAAGCATTTTTACATCATGTAGTTATAAAAAGATTCTATGTAATACTGAATATTGGGCCCCTATACAGAGACCAGATTCTCAGATTGTTTTTCCTGCCTTATTTTTCCATCATTCTCCAGAGAAGGCAGGAACGAGAGTAATTCCACTTGGATGACCTAACCTGACCCACACCACAAAAACATCATAACAAGCACTCCTTATCTCTCTGCACGAATTCACCCTCTAGCCACTGGCATATACCGTTCTTACCATTTCCTTCCCACACTCACAGAGATAAACCTGCACTATTCTATCCATAGCCCTGTGTCATGGTTAATGGCTGATCTTCAGCTAAGATGAAGTAACTGCATTCTTTTAGCAAACCAGAGACATTGAGCAAATTCAGTGGTGGACATCATATATTTATTCTCAATGGCAACTACTAACATCCAGATCACAACTTAAGTTCACGGCCTTTTGCTGAGATAATCTGCTTAAAATTCACGAATCTCACTTTTTTAACCAACTTGGTAATTACATGTAATGTCACCTAAACATATTTTTTTTCTCCCTAGGAACTCAAAGCATTCCCCAAGTGGAATGTTCCAGCCATTTAACAAACAAATGTGACGTAATGGGTATTTATTAAACACTTATTACATCCAAGCACTATGCTTTATACACAGTATGTCATTTAACCCTTACAACCACCATATGAAATATATATTAGTAATTATTATTCTCCCTGATGAGAAAACTGAGGTTTCATAGGTTAAGAAACTTTCCCTAGGACACAAGGCTAGTATGTGACTGATCCAGCCTTAAAACCCAGTATTGTCCGATTCCAAGGCGTGGCACAAAAACTCTCTGCAATGTTGCCCTCCCTGATAACATTCAGAGTAGAGGGGAGATTAAGGCATACGGGGAACGTGGGGGCCTCATCCTCTTTTGCTCCTGCCAGCATTTTTTTGTTTTGAGGAAGTCCGGTAAGTATGAACATAAAGGATAGCCTGAAACAAAAGCTCCGAGAGCATGCACGTGAGGGATAATGGGTTTGGTGCTTGGCAGGTACAAGTGTCATAGGGAGGATGTGGCCACAGCACTCAGCCGCTAGGGCAATGATTCTCGACCACGGGAGATTTGGTAACATCTAAGGACATTTTTGGTTGTCACAACTGAGGGGGTGTTACCAGCATCCAGTGGGTAAGGGCCAGGGACACTGCTAAACATCCTGCAATGCACATGACAGCCCCACAAAAAAGAGACACCCACCCCAGGCCGGGCATCCTGAGCTGCTAAACATCCTGCAATGCACATGACAGCCCCACAAAAAAGAGACACCCACCCCAGGCCGGGCATCCTGGAATGTAGACAAGCCCACGACAAAGAAATATCCAACCCAGGCCGGGCATGGCGGTTCACACCTACGATCCCAACACTTTGGGAGAACACTTTGGGAGGTTGAGGCGGGAAGATCGCCTGAGCCCAGGAGTTGGGAGACCAGCCTGGGTGACACAGCAAGCCTCCGTCTCTACTAAAAATTCAGAAAAGTAGCTGGGTGTGGCGGCACGTGACTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGGATCCCTTGAGCCTGGGAGATCAAGGCAGCTGTGAGCTATGATCATGCCAGTGCACTCCAGCCTGGGCTACAGAGTGAGATGAGGTCTCAAAAAAAAAAAAAAAAAAAAAGCTGCCCAACCCCAAATGTCATTAATGCCCAAAATCTGCCATCAAGAGCAATGAGGATCCCTTTAACAGTTCTAGGGGCCAGGCCCTAGGTGTTTCATTGGTTCTGCGTCAACAAAAACGGGGCTGAGAAATGGAGTCTTCCTGCATGATGAGGATGAAAATGAAATGGTTTGGTGATTGCACAGAAACACTCAGCCCAAATGAGTTTCAGGGTCAGAGCTACTGAGGAACTCTACAGAATAAGGGGCCAGGCTGAGTATGTCATTTGCTCATATCTACAAAAAAAAAATCTCTGGATGTCCCTGAGACACTTAAGAAAAAAAACCAAGTCTTCAATAGTGAACTCACTACATAAAGGGAAGGAAATACCACACTCCCAGATGAAATATGGTTATTTGCCCAATGTCGTAATGTAGTCCCATCCCCTTTTACGAAACCATAATTTGCTATGCTGTAACCCTAATATTACCAATTCCCCAAATTTAAGTCCCTCTGAAGTTCTGACAGTGAGCTAGATTCATGCAGATTTGCCCAAGTCCCTGCGAAGAGGTTGCTGAATTATGCCTTTAAATAAATAACAGCGCATTTTCTATGTGCTTAACATTTATTGTGAGAAATAATATCTCTTACCAATTTTTCATCCACCACCTGCATAATTTTTCCACTTGGCACGAATGTATTTATCATATTCTTCAGAGAATTCACTATAACCTTTAGCTGAAAAATAAATAAAATGCTTACTAAAAGACATAATGAAATGCTGTCAAGATTACCTTTTGGCTTACCCATATGTAGCTAAAAGAGAGTGCTATTTGACAATTTATATATATATTTTTTAAAACAGCATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTAGCACCATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAAGTGTGCATCACCATTCCCAGCTAATTTTTGTATTTTTTTTTTTAAGACGGAGTTTTGCTCTTGTCGCCCAGGCCGGAGTGCAATGGCACGATCTCTGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGATCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTACTGGGATTGATTACAGGCATGAGCCACCGTGCCTGGCCTCGATTAATACATTAATACAGTAAGTCTAATTTTATCTTTAAAGTGAATTTGATTCTTAATTATTTACATGAAGGGAGATGACATAAAGGGAAAGAAACAAAGGTAAAGTTTACAAAAAAGAACAAAGGCTACAGAGGAATGACCTCTTTTCCTCTGCTGTCACTTAACGTATAGGGCAGAAAGGTATCAAAAGCACAATTTTAAACTATTCTGTGGGTAATTTCATGAAGTGTTCTTTTAAAAATACAATAATATTTAATAAAGTTAGAAATAAAAGATTTAATATAGAATCTCCACGGTCCTTGGGGGGAAAATAAATAAATAAAATAAGAAATATGGCCGGGCATGGCGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTCGAGGTCAGGAGTTTGAGATCAGCTTGGACAACATGGCAAAATCTTGTCTCTACTAAAAATACAAAAATTAGCCGGCATGGTGGCAGGTGCCTGTAATTCCAGCTACTCGGGAAGCTGAGGCAGGGAAATTGCTAGAACCCAGGAGGCGGAGGTTGCGGCGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAACAAAAAAAAAATCAATCAATAAATAAAAATAAAGAAATAAAATAAAAAATAAAAATAAAGAAATAAAAGATTTAAGCATCATAGCATACCACTGGTGCCTTGTCAAGCATCAATTCATGCCATCTTTTGTAGGGTGGTAAGTCAAGATTTATGGTGTACCATGGAACTGCACCTCTGTACCTGTAATGAGAGGTGTATCATCTTGAAATGATGAAAGGGTTTTTTGTGAGGGTCAGTTAGATACATCTATAAGAATATATGAGAGGCAAAGTCTTAACAGCAGTGTAGAATTTGGTTACCCAAACCAAAATTTGGAAAGAAAGTTCATTCTCTACCTAGTGCTTCTAGGTTGAGAACACAATCATAAGCGGTCACAGAAATCCTGGAATAGAATGATCTAGTAGGGAAGGTTCATGTGAATTGGTTTTCTATGAAAAAATCAACTATGGCTTAAGAGCTCTAACCTGATTATCACTGACGGGAAATACCTGCCATTTTTTTTTTCTCCTAAATATCTGCAAAGATTTAGTCTGGGCTCTAGACAATTCTCCAATTGGTTTCCAGTTTCAGAATTCTCTCTCAGAGAGTGTAACACTATTGCCAAACCAATGTCTCCAGTGTTGCCTTCAGGAAGATCACCTTTTAAGCCCCAGATGGCAACATGTATTATCTTCCCACGATCAGCTTCAAGAACCTTCATGATTCTGTCAGCCATCCTAATCTTCCCTACTATATACCTCTTCTCTTCTCATTTTCCTGGACAAAGTCCAAGCCCAAGCTGTATTCTGTCATATCCTCCAACTTCCTACTCTTTAACTTACGTGCAGCAATTTCTGAGGATATAGCAACATCCAGTCACTTATCAGTGAAGCTGGGCCATATTTCTGGTGGATGAATTCTACAACTATTTTTGTTGCTATAGGAACATTATTTTCTGGCCCTGGTTACTAAACTGAAATAGCTTTTAAGGGTGTGCCAGTTAGTGGTTTATCAGTATAAACCTATGCCTAAAAATAACCATCATCTGTTCCACTGATCTGCTCCTGAGACTGGCAGGGTGACTCTGGTATGTGCCACAATGATACCAGTCTCCTAAATAGAAATGTTATCTAGACTTATGTCCATAGCTGGGGATGGGTTATTACCTAAGTCATGAACTGTGGTTCTATTTATATTTCCACTATCATAAATAATTACTTGGTTCTCTAAATAATGCTGTGTAACTTGGGGCCCTGGTATATGTATGAGGTTTTATGAAACTGTTAACTAGCAGACATTCAGGTTGTGATTTAGACAGAAAAGTATATTCGATTTTGGAAATGTACATTTAAACAAAATCATAGTGAACGAATTTTGTTCTTCTCAAAGCATTTTCAAGTTCCCCATTTTCTTAGGAGCTGATATCTACATGAAATGCTACAATACTTATATTCTAGAAAAAAACTTTTCATCACAACAAATTAATTCCATTTCTGACAGACCATAATTTCACATGTAAAATTTTGTCCCACAATTCAGTAAGTAATTATTGTTCCCCATATTATGGGCAGGTATTACTAGTCTCCCCTCTCCCTTCAACTGTGCATTTAGATTTCTATGTCTAGTAGCAAAGATAACTCAGTGGCCTGTTGGAGATATGCATCTCATCCCTATGAACTCCAATCAGCTGCTCCTCACCTCATAACATCCAACCAATCCCAAATCATGCCTCTATACCCGCCATAAATTCCTGATTCTTTTTCAGCCTAGAGTCCTGGGTAGGTTCATGGATCTCAGAGACGCGATGAGAGGGGATGAACACAACACAACGGACAATGAAGGGATTACAATGAAGTGGGGATGATGAGACCCCACAAACCTCTCTACCATCAAACCTGCACTAATTAGAATTTGAGAGAACTGGTTAATCTAATAAACCAAATTATTTTAATGACTAAAGCTTAGCCATAATTGCACATTTTACCTCTCGTTAAACAGTTTTCTAAAACATTTCAGTATTTAACTTGTGCGCCTCCATTTCCCCATAAGAATAAAAGAGTATCCACCTTATAACAGCAGGGAAGACACTATATGAAAAATGCAAAAATAAAAAAAACACTTAGCAGCATTGGTATTCAATCAACAGTAGTCATCACAATTTATTTTCCTACTTCACTGCAAACAAGAAATATCATTTCATCATTTTTGAGACTTAGTGTTTGCAATGTCCATGCCATTCATAATATCAGCAACATCACCTGAACCCACATGGCTACCTAGGTGGCATGGAAACTAGTCCAAGTGACACAACACACACATATACAAATAAGAGAGCAAGTGCTAGGCATCCCGTGAGCAGTGGGAAAGAAATGCTGAATGGGACTCAGATGGACTCAGGGGTGATCTGGCTATCAGTTCCTTTATCTTCAGCATTGATTTGACTAGTCATGCTGGCCAAACAGGTTATCTTTTTCTTCCCTCATATCTGCCCATGGATGCTGCCCAAATCTACGCACTTAATTGAAAAGGATGATCTCAAAGGAACAGAACGTCTGTTTGTCATTCAAAGGTACATAAATACCACAGTTATCTCCTAAATCTCAAGATCCATTGATAGAGTTGAGAGAAGAGAAGGATAAGAGCAAAGCCGAGGCTTTTTGTGTAGGAAAGCAGGCTAGTGAGATAAAAAGAAAGCTAGCGAAAAAATGAAGGCAAGGAAAGAAACATACAAGTTATGTCCATGTATACACGTGTATGTGTTTTGGAGTACATATGTATGTATACATGTAGGTATGTATGCACATAGGTAGACACACACTCACATGCACATGGCAATAAGAGTCAGTAAAATGCCTAATCAGGAAAGGTTTATGGTTTGCAGGGCATTCAATTTATAGACACATGTAAAGTGCACCTAAAAGGGAGTAGAAACGGCCTCAAACATGGAAGGCACCTCATTAAATGTTCAATGAATTGGGGCAGTGAGACCAACAGAGAGACATAATCAATCAGTAAGGCAGACATGTCACTGAAGGCCAGAATGATGCCAGTGATGACAGAAAGGAAGACTTTCAGACAGCAGGCCATTGAAGAAAGAGCTGGAATGAACACTGGCCCCAAACAACATCCAAACTGGTTACCTCTAAATTGCTTCCTGCCAAATACTGGCCTCTTTCTACATAAAGGCGAGTAAGTCAAAAGAACTTAGTTTATTACAGTTTCACGCTATCTGGGACAGAGGCTATTTAAAATACATCGTTTAGACAACAACAGTACAACGTAAGTAATTTGGAATGTTGCACGAACTGAAAATGTCATCTTGATATCACTAGATAGAGTTGTACTGTTTCCCCCTACAAACAGCAGGCTACTTTCAGCGAAAGGGCAGTGTAGGAGAAAAAGATCACCACCCCCTATACCTGTTCCTTCTTTTCTCTGTTCTGTACACTCTGAGGGGTCTGTGAGCTGTTATTATGGCTTTCTCACAGGCCCATTTAAACACTGAGGATTTGGAAAGACCAAAATCTAGACTAAAAATATTAATGTTAAACACACTGAATCATGACATTGGTCCTCCTCTTAGGTGTTCCAATCCTGTTTTGTCCTCGACAGCTTTGTTGTGCCAAGGTTTATTTTGAGAACGTTTCACATATGAGGGCCTATGCTTTTTTGTTACAATATAATTTGGTGGTTTATATCCAGGCACCATAGAGAATCACAGGTCATTTCAAATACAGCCCTTACATTTGTCAAAGATGAGAAAAACCCTTCATGGTAGACAGGAGAATTGAGTGGAGAATGAAAATCCTTTCCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGACTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTAGCCAGCATGGTCTCGATCTCCTGACCTTATGATTTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGGCTGAAAATCCTTTTCTTTCCGATGATTTTGATAGTCTAGC	T	T18065863C	ASAH1	NM_177924.5(ASAH1):c.125+211_383-1330del	noncoding	Pathogenic
8	18067103	ACCTGTGCTGTATATCTAAGACATACAGCAC	A	C18067105T	ASAH1	NM_177924.5(ASAH1):c.382+87_382+116del	noncoding	Benign
8	18071211	C	CA	T18071222A	ASAH1	NM_177924.5(ASAH1):c.216+79dup	noncoding	Benign
8	18071253	T	TATA	A18071255T	ASAH1	NM_177924.5(ASAH1):c.216+46_216+47insTTA	noncoding	Benign/Likely_benign
8	18083982	GGCGGCGCGTGCTGCGC	G	C18083984A	ASAH1	NM_177924.5(ASAH1):c.61_76del:p.Ala21fs	coding	Pathogenic
8	18085214	CTTT	C	T18085219C	ASAH1	Single_allele	noncoding	Benign
8	19408468	CTTTTTTTTT	C	T19408489G	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.1309+136_1309+144del	noncoding	Benign
8	19505344	G	GT	A19505346T	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.490dup:p.Thr164fs	coding	Pathogenic
8	19505558	GCTGCT	G	T19505560A	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.272_276del:p.Glu91fs	coding	Pathogenic
8	19505757	GAT	G	T19505759G	CSGALNACT1	NM_001354483.2(CSGALNACT1):c.76_77del:p.Ile26fs	coding	Pathogenic
8	19939447	AGCAAAGCCCT	A	A19939450T	LPL	NM_000237.3(LPL):c.10_19del:p.Lys4fs	coding	Pathogenic
8	19939485	CCA	C	C19939486G	LPL	NM_000237.3(LPL):c.46_47del:p.Gln16fs	coding	Pathogenic
8	19939498	GCCTCCCGCGGAGG	CCTC	G19939498C	LPL	NM_000237.3(LPL):c.58_71delinsCCTC:p.Ala20fs	coding	Pathogenic
8	19948228	CT	C	T19948229G	LPL	NM_000237.3(LPL):c.138del:p.Glu47fs	coding	Pathogenic
8	19951872	AG	A	G19951874A	LPL	NM_000237.3(LPL):c.355del:p.Glu119fs	coding	Pathogenic
8	19953512	A	ATG	G19953519T	LPL	NM_000237.3(LPL):c.541+92TG[4]	noncoding	Benign
8	19954142	CTT	C	T19954144G	LPL	NM_000237.3(LPL):c.566_567del:p.Asn188_Phe189insTer	coding	Pathogenic
8	19954145	TGAGTATGCAGAAGCCCC	T	A19954150C	LPL	NM_000237.3(LPL):c.572_588del:p.Tyr191fs	coding	Pathogenic
8	19954265	TG	T	G19954266T	LPL	NM_000237.3(LPL):c.688del:p.Val230fs	coding	Pathogenic
8	19954336	CAGAG	C	A19954341G	LPL	NM_000237.3(LPL):c.763_766del:p.Arg255fs	coding	Pathogenic
8	19954336	CAG	C	A19954343G	LPL	NM_000237.3(LPL):c.765_766del:p.Gly256fs	coding	Pathogenic
8	19954345	G	GTAAATATT	A19954346T	LPL	NM_000237.3(LPL):c.767_768insTAAATATT:p.Leu257fs	coding	Pathogenic
8	19955875	CT	C	T19955876C	LPL	NM_000237.3(LPL):c.811del:p.Ser271fs	coding	Pathogenic
8	19955995	CA	C	A19955997C	LPL	NM_000237.3(LPL):c.932del:p.Asn311fs	coding	Pathogenic
8	19960928	CTCCT	C	T19960933A	LPL	NM_000237.3(LPL):c.1172_1175del:p.Ser390_Phe391insTer	coding	Pathogenic
8	19965102	GC	G	C19965103T	LPL	NM_000237.3(LPL):c.1428-207del	noncoding	Benign
8	19967115	C	CTT	G19967117T	LPL	NM_000237.3(LPL):c.*1806_*1807insTT	noncoding	Benign/Likely_benign
8	20211762	A	AAGTT	T20211764G	ATP6V1B2	NM_001693.4(ATP6V1B2):c.705+10_705+11insGTTA	noncoding	Benign
8	22119890	CCT	C	C22119891G	HR	NM_005144.5(HR):c.2847-2_2847-1del	coding	Pathogenic
8	22121668	TG	T	G22121673C	HR	NM_005144.5(HR):c.2147del:p.Pro716fs	coding	Pathogenic
8	22127183	TG	T	G22127185A	HR	NM_005144.5(HR):c.1258del:p.Gln420fs	coding	Pathogenic
8	22148689	CA	C	A22148690G	LGI3	NM_139278.4(LGI3):c.1117del:p.Trp373fs	coding	Pathogenic
8	22148869	GT	G	T22148870G	LGI3	NM_139278.4(LGI3):c.937del:p.Thr313fs	coding	Pathogenic
8	22156440	T	TG	C22156447G	LGI3	NM_139278.4(LGI3):c.102dup:p.Lys35fs	coding	Pathogenic
8	22163524	CTAGAAAAGTCCACAACT	AGGTGATC	C22163524A	SFTPC	NM_001317778.2(SFTPC):c.413_430delinsAGGTGATC:p.Thr138fs	coding	Pathogenic
8	22163941	A	AG	C22163946G	SFTPC	NM_001317778.2(SFTPC):c.480dup:p.Arg161fs	coding	Pathogenic
8	22164226	G	GA	T22164228A	SFTPC	NM_001317778.2(SFTPC):c.*19-39dup	noncoding	Benign
8	22165128	A	AG	A22165139G	BMP1	Single_allele	noncoding	Benign
8	22176988	C	CG	C22176994G	BMP1	NM_006129.5(BMP1):c.584dup:p.Gln197fs	coding	Pathogenic
8	22177735	A	AG	A22177741G	BMP1	NM_006129.5(BMP1):c.731-112dup	noncoding	Benign
8	22201944	CA	C	A22201945G	BMP1	NM_006129.5(BMP1):c.2233+17del	noncoding	Benign
8	22206764	AG	A	G22206771C	BMP1	NM_006129.5(BMP1):c.2234-83del	noncoding	Benign
8	22404458	G	GTTT	G22404462T	SLC39A14	NM_001128431.4(SLC39A14):c.-15-237_-15-235dup	noncoding	Benign
8	22404458	G	GTTTT	G22404462T	SLC39A14	NM_001128431.4(SLC39A14):c.-15-235_-15-234insTTTT	noncoding	Benign
8	22404462	GT	G	T22404475C	SLC39A14	NM_001128431.4(SLC39A14):c.-15-221del	noncoding	Benign
8	23014789	AG	A	G23014793A	RHOBTB2	NM_015178.3(RHOBTB2):c.1860+15del	noncoding	Benign
8	23022842	C	CGT	A23022847G	TNFRSF10B	NM_003842.5(TNFRSF10B):c.1150_1151dup:p.Met385fs	coding	Pathogenic
8	23702404	A	AG	A23702408G	NKX2-6	NM_001136271.3(NKX2-6):c.*46dup	noncoding	Benign
8	24956009	C	CT	C24956011T	NEFL	NM_006158.5(NEFL):c.506dup:p.Thr170fs	coding	Pathogenic
8	25423270	A	AG	C25423272G	GNRH1	NM_001083111.2(GNRH1):c.60dup:p.Cys21fs	coding	Pathogenic
8	27469321	A	AG	C27469328G	CHRNA2	NM_000742.4(CHRNA2):c.339+13dup	noncoding	Benign
8	27469321	AG	A	G27469327C	CHRNA2	NM_000742.4(CHRNA2):c.339+13del	noncoding	Benign
8	27479255	CACACACACAT	C	T27479265C	CHRNA2	Single_allele	noncoding	Benign
8	27776382	ATC	A	C27776384G	ESCO2	NM_001017420.3(ESCO2):c.76_77del:p.Leu26fs	coding	Pathogenic
8	27776409	ACT	A	C27776410G	ESCO2	NM_001017420.3(ESCO2):c.102_103del:p.His34fs	coding	Pathogenic
8	27776439	AAGAAAACCTGC	A	G27776441T	ESCO2	NM_001017420.3(ESCO2):c.133_143del:p.Glu45fs	coding	Pathogenic
8	27776459	CAA	C	A27776460C	ESCO2	NM_001017420.3(ESCO2):c.152_153del:p.Gln51fs	coding	Pathogenic
8	27776469	ATTTTG	A	G27776474A	ESCO2	NM_001017420.3(ESCO2):c.166_170del:p.Val56fs	coding	Pathogenic
8	27776573	C	CA	T27776578A	ESCO2	NM_001017420.3(ESCO2):c.269dup:p.Asn90fs	coding	Pathogenic
8	27776579	AAGTGGTACCTC	A	G27776581A	ESCO2	NM_001017420.3(ESCO2):c.273_283del:p.Trp92fs	coding	Pathogenic
8	27776616	AAG	A	A27776621T	ESCO2	NM_001017420.3(ESCO2):c.313_314del:p.Glu104_Ser105insTer	coding	Pathogenic
8	27776678	G	GA	T27776685A	ESCO2	NM_001017420.3(ESCO2):c.376dup:p.Met126fs	coding	Pathogenic
8	27776719	CA	C	A27776725C	ESCO2	NM_001017420.3(ESCO2):c.417del:p.Lys139fs	coding	Pathogenic
8	27776764	T	TA	G27776766A	ESCO2	NM_001017420.3(ESCO2):c.457dup:p.Arg153fs	coding	Pathogenic
8	27776792	TC	T	C27776793T	ESCO2	NM_001017420.3(ESCO2):c.485del:p.Ser162fs	coding	Pathogenic
8	27776796	G	GA	T27776800A	ESCO2	NM_001017420.3(ESCO2):c.491dup:p.Asn164fs	coding	Pathogenic
8	27776807	CA	C	A27776811T	ESCO2	NM_001017420.3(ESCO2):c.503del:p.Asn168fs	coding	Pathogenic
8	27776915	G	GT	A27776918T	ESCO2	NM_001017420.3(ESCO2):c.609dup:p.Thr204fs	coding	Pathogenic
8	27777050	ACTGT	A	T27777052A	ESCO2	NM_001017420.3(ESCO2):c.744_747del:p.Ser250fs	coding	Pathogenic
8	27777066	A	AAG	A27777068G	ESCO2	NM_001017420.3(ESCO2):c.759_760insGA:p.Thr254fs	coding	Pathogenic
8	27777168	A	AG	T27777171G	ESCO2	NM_001017420.3(ESCO2):c.861+1dup	coding	Pathogenic
8	27780159	T	TA	C27780163A	ESCO2	NM_001017420.3(ESCO2):c.862-12dup	noncoding	Benign
8	27780204	G	GATTTT	A27780206T	ESCO2	NM_001017420.3(ESCO2):c.893_894insTTTTA:p.Glu298fs	coding	Pathogenic
8	27780208	A	AT	A27780210T	ESCO2	NM_001017420.3(ESCO2):c.897dup:p.Lys300Ter	coding	Pathogenic
8	27784189	TATTG	T	T27784191G	ESCO2	NM_001017420.3(ESCO2):c.1013+134_1013+137del	noncoding	Benign
8	27787982	A	AT	C27787983T	ESCO2	NM_001017420.3(ESCO2):c.1111_1112insT:p.Thr371fs	coding	Pathogenic
8	27788242	ATAT	A	A27788244C	ESCO2	NM_001017420.3(ESCO2):c.1131+242_1131+244del	noncoding	Benign
8	27788531	TC	T	C27788539A	ESCO2	NM_001017420.3(ESCO2):c.1132-308del	noncoding	Benign
8	27788832	A	AC	A27788839C	ESCO2	NM_001017420.3(ESCO2):c.1132-9dup	noncoding	Benign
8	27788928	A	ATG	C27788931T	ESCO2	NM_001017420.3(ESCO2):c.1214_1215dup:p.Gln406fs	coding	Pathogenic
8	27788960	G	GGAAGGAA	T27788968G	ESCO2	NM_001017420.3(ESCO2):c.1246_1252dup:p.Ile418fs	coding	Pathogenic
8	27791841	ATCT	A	C27791849T	ESCO2	NM_001017420.3(ESCO2):c.1264-121TCT[2]	noncoding	Benign
8	27792051	AG	A	G27792053T	ESCO2	NM_001017420.3(ESCO2):c.1353+1del	coding	Pathogenic
8	27803549	T	TACACACAC	G27803568A	ESCO2	NM_001017420.3(ESCO2):c.*112AC[13]	noncoding	Benign
8	28527641	AT	A	T28527648A	FZD3	NM_017412.4(FZD3):c.888del:p.Phe296fs	coding	Pathogenic
8	30607202	CA	C	A30607216T	GTF2E2	NM_002095.6(GTF2E2):c.550-53del	noncoding	Benign
8	30607202	C	CA	T30607217A	GTF2E2	NM_002095.6(GTF2E2):c.550-66dup	noncoding	Benign
8	30615049	AG	A	G30615051T	GTF2E2	NM_002095.6(GTF2E2):c.259-335del	noncoding	Benign
8	30683754	C	CAA	T30683769A	GSR	NM_000637.5(GSR):c.1153+320_1153+321dup	noncoding	Benign
8	30683754	C	CA	T30683769A	GSR	NM_000637.5(GSR):c.1153+320dup	noncoding	Benign
8	30709905	G	GT	A30709907T	GSR	NM_000637.5(GSR):c.334-4dup	noncoding	Benign
8	30839929	TTC	T	C30839933G	TEX15	NM_001350162.2(TEX15):c.8197_8198del:p.Glu2733fs	coding	Pathogenic
8	30843259	ACT	A	C30843262G	TEX15	NM_001350162.2(TEX15):c.6906_6907del:p.Arg2302fs	coding	Pathogenic
8	31058454	G	GA	T31058463A	WRN	NM_000553.6(WRN):c.15dup:p.Leu6fs	coding	Pathogenic
8	31058466	GA	G	A31058469C	WRN	NM_000553.6(WRN):c.22del:p.Thr8fs	coding	Pathogenic
8	31064273	A	AT	C31064279T	WRN	NM_000553.6(WRN):c.210-11dup	noncoding	Benign
8	31064407	T	TA	C31064409A	WRN	NM_000553.6(WRN):c.329dup:p.Tyr110Ter	coding	Pathogenic
8	31064902	G	GA	T31064907A	WRN	NM_000553.6(WRN):c.356-9dup	noncoding	Benign
8	31065036	GGAGTT	G	G31065039C	WRN	NM_000553.6(WRN):c.480_484del:p.Glu160fs	coding	Pathogenic
8	31076257	A	AT	G31076259T	WRN	NM_000553.6(WRN):c.810dup:p.Ala271fs	coding	Pathogenic
8	31076332	TA	T	A31076333T	WRN	NM_000553.6(WRN):c.839+46del	noncoding	Benign
8	31080854	A	AT	A31080865T	WRN	NM_000553.6(WRN):c.840-3dup	noncoding	Benign
8	31080854	AT	A	T31080864A	WRN	NM_000553.6(WRN):c.840-3del	noncoding	Benign
8	31080891	TTCAGAAAA	T	A31080894T	WRN	NM_000553.6(WRN):c.867_874del:p.Glu290fs	coding	Pathogenic
8	31080953	T	TGA	G31080957A	WRN	NM_000553.6(WRN):c.928_929dup:p.Pro311fs	coding	Pathogenic
8	31080970	TTAAAC	T	A31080972T	WRN	NM_000553.6(WRN):c.945_949del:p.Leu315fs	coding	Pathogenic
8	31081029	A	AGAACATGAAGTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A31081044T	WRN	NM_000553.6(WRN):c.1016_1017insTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACATGAAGTTTT:p.Leu339delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyPheThrValLeuAlaGlyMetValSerIleSerTer	coding	Pathogenic
8	31081034	ATGAAG	A	G31081036T	WRN	NM_000553.6(WRN):c.1009_1013del:p.Glu337fs	coding	Pathogenic
8	31081036	GAAGTTTT	G	G31081039T	WRN	NM_000553.6(WRN):c.1012_1018del:p.Val338fs	coding	Pathogenic
8	31081080	T	TG	A31081082G	WRN	NM_000553.6(WRN):c.1054dup:p.Asp352fs	coding	Pathogenic
8	31081182	GA	G	A31081184T	WRN	NM_000553.6(WRN):c.1157del:p.Asn386fs	coding	Pathogenic
8	31081234	CA	C	A31081237T	WRN	NM_000553.6(WRN):c.1210del:p.Ile404fs	coding	Pathogenic
8	31081255	C	CA	G31081257A	WRN	NM_000553.6(WRN):c.1229dup:p.Glu411fs	coding	Pathogenic
8	31081278	TG	T	G31081279C	WRN	NM_000553.6(WRN):c.1252del:p.Ala418fs	coding	Pathogenic
8	31083729	AC	A	C31083730G	WRN	NM_000553.6(WRN):c.1301del:p.Thr434fs	coding	Pathogenic
8	31085183	TAATG	T	T31085186A	WRN	NM_000553.6(WRN):c.1371_1374del:p.Asn457fs	coding	Pathogenic
8	31087786	A	AT	C31087787T	WRN	NM_000553.6(WRN):c.1442_1443insT:p.Leu482fs	coding	Pathogenic
8	31087815	C	CA	T31087817A	WRN	NM_000553.6(WRN):c.1472dup:p.His491fs	coding	Pathogenic
8	31090480	GATTC	G	T31090486G	WRN	NM_000553.6(WRN):c.1674_1677del:p.His558fs	coding	Pathogenic
8	31090506	GA	G	A31090507G	WRN	NM_000553.6(WRN):c.1695del:p.Asp566fs	coding	Pathogenic
8	31091861	T	TC	A31091863C	WRN	NM_000553.6(WRN):c.1862dup:p.Ala622fs	coding	Pathogenic
8	31091906	AT	A	T31091913C	WRN	NM_000553.6(WRN):c.1898+15del	noncoding	Benign
8	31100893	TG	T	G31100898C	WRN	NM_000553.6(WRN):c.2031del:p.His678fs	coding	Pathogenic
8	31100932	TC	T	C31100935T	WRN	NM_000553.6(WRN):c.2068del:p.Ser689_Leu690insTer	coding	Pathogenic
8	31111630	C	CT	A31111633T	WRN	NM_000553.6(WRN):c.2106dup:p.Thr703fs	coding	Pathogenic
8	31111702	A	ACC	T31111705C	WRN	NM_000553.6(WRN):c.2177_2178dup:p.Cys727fs	coding	Pathogenic
8	31111748	GA	G	A31111753C	WRN	NM_000553.6(WRN):c.2227del:p.Thr743fs	coding	Pathogenic
8	31111755	AG	A	G31111758A	WRN	NM_000553.6(WRN):c.2232del:p.Asn745fs	coding	Pathogenic
8	31111839	C	CT	A31111853T	WRN	NM_000553.6(WRN):c.2273+53dup	noncoding	Benign
8	31116505	AG	A	G31116507T	WRN	NM_000553.6(WRN):c.2427del:p.Arg809fs	coding	Pathogenic
8	31124594	AT	A	T31124595A	WRN	NM_000553.6(WRN):c.2704del:p.Tyr902fs	coding	Pathogenic
8	31124914	CT	C	T31124916G	WRN	NM_000553.6(WRN):c.2741del:p.Leu914fs	coding	Pathogenic
8	31124993	AG	A	G31124995T	WRN	NM_000553.6(WRN):c.2820del:p.Arg940fs	coding	Pathogenic
8	31132423	CA	C	A31132425G	WRN	NM_000553.6(WRN):c.2886del:p.Ala963fs	coding	Pathogenic
8	31132431	T	TA	G31132434A	WRN	NM_000553.6(WRN):c.2894dup:p.Leu966fs	coding	Pathogenic
8	31132490	TA	T	A31132491T	WRN	NM_000553.6(WRN):c.2952del:p.Leu984fs	coding	Pathogenic
8	31141152	GT	G	T31141154C	WRN	NM_000553.6(WRN):c.2968-276del	noncoding	Benign
8	31141364	TG	T	G31141365T	WRN	NM_000553.6(WRN):c.2968-65del	noncoding	Benign
8	31141467	G	GT	A31141471T	WRN	NM_000553.6(WRN):c.3008dup:p.Leu1003fs	coding	Pathogenic
8	31141788	G	GT	C31141796T	WRN	NM_000553.6(WRN):c.3233+20dup	noncoding	Benign
8	31142609	A	AT	A31142614T	WRN	NM_000553.6(WRN):c.3234-13dup	noncoding	Benign
8	31142634	CTG	C	G31142636A	WRN	NM_000553.6(WRN):c.3244_3245del:p.Val1082fs	coding	Pathogenic
8	31142635	TG	T	G31142636T	WRN	NM_000553.6(WRN):c.3244del:p.Val1082fs	coding	Pathogenic
8	31142678	GT	G	T31142680G	WRN	NM_000553.6(WRN):c.3288del:p.Glu1097fs	coding	Pathogenic
8	31143548	A	AGTCTAACTTGGAGAAGTTATATTCTTATAAACCATGTGATAAGATTTCTTCTGGGAGTAAC	A31143610G	WRN	NM_000553.6(WRN):c.3310-1_3369dup	noncoding	Pathogenic
8	31147501	T	TC	A31147502C	WRN	NM_000553.6(WRN):c.3572+25_3572+26insC	noncoding	Benign
8	31154661	AG	A	G31154662A	WRN	NM_000553.6(WRN):c.3726del:p.Lys1243fs	coding	Pathogenic
8	31157394	GCCTCTCATGACAATTGGCATGCACTTATCCCAAGCGGTGAAAGCTGGCTGCCCCCTTGATTTGGAGCGAGCAGGCCTGACTCCAGAGGTTCAGAAGATTATTGCTGATGTTATCCGAAACCCTCCCGTCAACTCAGGTGAGAGGCATGGCCTAGCTCTGCACCCTTAATGACTTGATGAAGTAAACAAGCAATCCACTATATTTTTCACTGTTAACAGCATTAATCCTTTATGCTATTATGAAAACCTTACTTTTGTGATTCTTTTTCTTGTTTTAGGAAAACAATCTTTCTTCCCATTATCACTCAGAGGAAAGTATACTGAGAAATTTTTTTGTTTTGTTTTGTTTTTTGAGACAGAGTCTTGCTCTCTTGTCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCGCTGCAACCTCTATCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCAGCTATTTTTTGTATTTTTTGATAGAGACAGGGTTTTCCATGTTGGCTAGGCAGGTCTCGAACTCCTGACCTCTGATGATCCGCCCA	G	T31157399A	WRN	NM_000553.6(WRN):c.3851_3982+449del	coding	Pathogenic
8	31167078	C	CT	A31167081T	WRN	NM_000553.6(WRN):c.4041dup:p.Ile1348fs	coding	Pathogenic
8	37740607	T	TAC	T37740615C	ERLIN2	NM_007175.8(ERLIN2):c.189+162AC[4]	noncoding	Benign
8	37753411	TA	T	A37753412G	ERLIN2	NM_007175.8(ERLIN2):c.740-38del	noncoding	Benign
8	37964944	T	TA	T37964959A	ADRB3	NM_000025.3(ADRB3):c.1205+307dup	noncoding	Benign
8	38144346	TG	T	G38144349A	STAR	NM_000349.3(STAR):c.784del:p.Gln262fs	coding	Pathogenic
8	38145009	GAA	G	A38145028G	STAR	NM_000349.3(STAR):c.744+211_744+212del	noncoding	Benign
8	38145009	GA	G	A38145029G	STAR	NM_000349.3(STAR):c.744+212del	noncoding	Benign
8	38145246	CG	C	G38145247T	STAR	NM_000349.3(STAR):c.719del:p.Thr240fs	coding	Pathogenic
8	38145263	A	AGG	A38145267G	STAR	NM_000349.3(STAR):c.701_702dup:p.Ser235fs	coding	Pathogenic
8	38145288	CA	C	A38145289C	STAR	NM_000349.3(STAR):c.677del:p.Val226fs	coding	Pathogenic/Likely_pathogenic
8	38146331	C	CAA	T38146333A	STAR	NM_000349.3(STAR):c.422_423insTT:p.Met141fs	coding	Pathogenic
8	38148689	TG	T	G38148693C	STAR	NM_000349.3(STAR):c.129del:p.Thr44fs	coding	Pathogenic
8	38148724	C	CT	G38148726T	STAR	NM_000349.3(STAR):c.94dup:p.Ser32fs	coding	Pathogenic
8	38148750	CAGCCCTGCAGAAGGGA	C	G38148752T	STAR	NM_000349.3(STAR):c.65-12_68del	coding	Pathogenic
8	38148812	TC	T	C38148815A	STAR	NM_000349.3(STAR):c.65-59del	noncoding	Benign
8	38234769	A	AT	G38234786T	DDHD2	NM_015214.3(DDHD2):c.411+201dup	noncoding	Benign
8	38249455	G	GT	A38249474T	DDHD2	NM_015214.3(DDHD2):c.1249-235dup	noncoding	Benign
8	38413986	AG	A	G38413989C	FGFR1	NM_023110.3(FGFR1):c.2223del:p.Ser742fs	coding	Pathogenic
8	38414786	G	GT	C38414788T	FGFR1	NM_023110.3(FGFR1):c.1969dup:p.Thr657fs	coding	Pathogenic
8	38415903	C	CA	C38415905A	FGFR1	NM_023110.3(FGFR1):c.1820dup:p.Ala608fs	coding	Pathogenic
8	38418218	GTAT	G	T38418224C	FGFR1	NM_023110.3(FGFR1):c.1430+7_1430+9del	noncoding	Benign
8	38419551	A	AG	A38419555G	FGFR1	NM_023110.3(FGFR1):c.1265dup:p.Leu423fs	coding	Pathogenic
8	38421894	TAAGTG	T	T38421898C	FGFR1	NM_023110.3(FGFR1):c.979_983del:p.His327fs	coding	Pathogenic
8	38421914	CTT	C	T38421916G	FGFR1	NM_023110.3(FGFR1):c.962_963del:p.Lys321fs	coding	Pathogenic
8	38430234	G	GGATCA	C38430235G	FGFR1	NM_023110.3(FGFR1):c.92-287_92-286insTGATC	noncoding	Benign
8	38463236	GCTCGAAGCAACATCCATGCCTCTGTGCAAGACTTTCTTCATGCCATTCCTTGTTCTGCAACAGGCCAGCCCTTCCCTTTTCTCTGAACCCCACCTTAAGAAGCTGTTTCTTCCATAAGACTTTCTTGGGCCTTCTAGCTGGAGAATTTCATTCCTCCAAATTTGCAAACCACATTACTAGCCCCTCTCACATAGCACTTAGGTCATATTATATGATTGTTATTTATGTTCTTCATTCTCTTCTCTCCCCACGAAACTGCAGGCTCCTTCAGAACAGGGTCTGTGCCTCCCTAACCTTTGCTAACACCCTCGGCACCTAGCATGTACACAGGAGATGCCAACATGTTTGTTAACTGGATGAATGAGTAAGTGAATGAAGGAAAAAAAAGGGCTGATGAAAAGAAACTGACAGAGATACTCCTCCAGAAAAAGAGGCTGAGAATATCAGAGAAAAGCAATTAGGTAGTACCCCTTGTTAACCAGCCAAACTCTAGTCCAAAGAACCCTGAGAAAATTTCTGGACAACTTGGTTCTTCAGAATTGAGGAAGTAACACCAAAACATTAATCCCTTCAGATGAGAATAAGACTTATTTCTTCCCCAAAGTGACCATTCTCTACTCACATGTTGAGAGGGCAGGGGGCAAGTACTTAATAAACATATGGAGAAAGTTACTCAGCTCAGCTTGCTAAATTTTAGTTGGTCCAATGGAAATGCTAATTTTTTGAGTCTCTTTAAAAAAAAAAAGTGTCTAAATGTCCTTGGAAGTAAGAGACATATAAAAAATTAGCAATAAGTGGTCAGGCACAATGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCCAGCGGATTGCTTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACACCATCTCTATTAAAAACACAAAAAATTAGCCGGACATGGTGGCGCATGCTTGCAATCCCAGCTACTAGGGAGGCTGGGGCAGGAGAATCGCTTCAACCGGAAGGCGGAGGTTGCAGTGACCTGAGATAGCGCCACAGCACTCCAGCCTGGGCGACAGAGCGAGACTATCTCAAAAAAAAAAAAAAAAAAAAAAAGCAACAAGTGAAACACGAACTGCTGCACATAATCTAGAAAACCTTGCTCTTGAAGACAGGATGTACTATGAGTGGAACCCCACCAAATTCTTGGGATAGTTCATCCATGTGAGGGCTATTAAATGGGGGAGAGGGCCCTAAACATGGTTTCTTTCATTGCAGGGGAGAGATAAATGGTGGCGAGGAGAGAATTTCTGTTTAAAGTAGATGCAACCTTAGGAGGAAAAACAAATATCCTAGCCCAAGTCTGACATTTCATCCTCTCTGGAAACACCAGAATCTTCTCTAAAGCTCTGCATCTGGGCTCCCACTAGTCCCTGGTGCGTTCAGGCCTTTTACAAAGCTCTGGGGAAGACAAATGTAAGACACAAATTTCCCAGGAGGAAATTAAACTATCAAGTGATGTGAGGCCCTTTCAGAATAAGACATTTGAATCAATTCTAACTCCTTTTCCTCCAGCAGCAACAGGCTCAAACTTTGCTAGGATGTTCTATAACTAACAGCCATTTTGACGAAAGACACTTTAGAAACGAAGGCAAGAAAAAAGCCTTTGTAGAAGCCGGCTGCTAAACCCCCAAGTTCATACCAGCAAATCTCTCATTTTAGGAGTCTTGTTTCAGGTCAATACTGAAAACAAAGAGCACACCACTAAAAGCAAAACCCATGGATTTTCCTTGGTCTCTAAGGCTTGAATCTGCCTACCCAGTGTTCAATTCAATTTTCTTGCCCTCTGGAGTCCACCAGGAATAAAGCTAGCCCAGCCTGAGGGATGCACCGATGTATCTAATCCTCTGCCCCTAGGGAGTGGGGGACGCTTCTCCATTTCTTCCTGAGCCTTTGCTTCCCTTGCTATCAAAGGGCCACCTAATGGAACTGTCTAACACCCTCCATGGCCAGAGGCCAAGGAAAAGAAGCACCCTAAGATTGTTCAAGTGGTGCCCACTCTGGCCTGAATTCCCATTGGGAAAAATACCTCGAAAATGAGCATTTCTGCAGGCATGTTTGGAAAAGCAGGCAGTGAAGTACGCAGTCCAAGTGGCTCTCAATCTGGATGAACCTCATTAAAAAGCTGACACTCAGCTATGACTAAGAGTAAATGCAACAGATATTTCAAGCAGCTCGTCACTGATGCAGTTCATAACCCTCCCAGCTGGAGTCAGGCCCCAGCAGCCTCCCGGTCCCCAAACACCCTGCACTCGGAGGGTCGGGGCAGCCCCGGAGCTTCTCCTAACCCACTGGGGGTAGGATATGTAAACAAGTCATTAGGGAGGCAGGCCATCGGCAAAGACGGCCGGCAATAGCAGAGGCTGCTGAACCTCGGTCACCGAGAGGAAGGTGGATGACCCGGGCGTGGGGGTGATTACCCAGACCAAGGCGCGTCCCACGGGGCCCTGCTACTTCGCTTTTAAACAAGCCTCAGGGAGGAAACCGGGAGCCCGGGCCAAGGGAGGAAAATGGCCACTTTCTGCTAAACAGTCTCAAGGCTAGATAGTATTCCAAAAAAAGCGCTGGTCCGGAGGTGCAAAGGGTAGGGCACATCTGCGGAGGAAACAGTCACCTTAATTACCACGTCTAGAGAAAGTGCGATTTCATTACAGCCTCCAAAACTACCGCCCAAAGAAGGAAACCAGAGAAGTGTTTTCAATTTGAAAGAGGCTGGAAAGAAGCGGGTAAGACACCGACTCTCCCCACCCTCCCGGCAACTTTGGACCACAAGGCGCTTTCCTGCCTCAAAGACTATTACCAAACACAACTCGAAAATCCAACCCCGCTTTCAAACCTGTAGCCGTTATTTAAACGGTAAAACACCCCACTTTAGTTTCCGGGGGATGCGGCCCAAATCAGTCCTTAAAAACACACAGAGAGCGCCTCTGGCAGCAGCCGCCCACGCCCCCGGCCCTGCGCACCGGGCTTGCTCCGGGAGGGGCGCGTGACGCCACCGCGGGGCAGCCGAGAGGGGACCGCGGGCTCCGGGCAGGGCAGGCGCTCCCGCAGCTCCAGCTATAACACAAGGGAGAGAAAGCAACGCTTTGGTTCCAGAAACTTCCATCGTCAAGGCCAGTTCTGGCCAGACGCACAGCCAAAGAGCCCCCCTAGTCTAGCGGATGAACCGTTCGCGAGTGGCACCCCCTAAAACCTTGGCCCCATCTCCCAAGATGCCTCTTTACTGCGCAATCCAGAAAGCACCCGGACCGCCGCCACCCACCAGCGGCGGCGAATAACTTGGTGAGATCTTAAATAACTCGGGATCCAAGGGAACTTTCTTTTCTCCCCCGAATCTCAACGCCGCATCTCCAAGTCTCCAGAAATGTTAAGGAGGGAGGTGGTCAAGACAGGCTGAAGAATCTGAGTTTTAATTTGGGGGAGGGGGAGGGGAGGAAGAGGGAAGTTAATAATGCGGCTGCGGTGTACCCGTGTGGGGTGAAACGGAACCAGATGCGGCTGCTACATCTGGAAATTGGGGGTGGGGGAGTGCTGGGGGAGAAAGGCACCGTGGTAATGTTTTTCAAAAGGGTTGATAGCTTCTGGGCTCAGAACAAGAAACAGGCTTCACACCCCACCCCCCCCCCACCACCACCAAAAAAGTGTCTGGCTGCCTCATAGGGGGTGTGTGTTCTATATGAACCCCCATCTACAAGGTCCATAAAATTCCTCCGCAAACATGGGTCGTAGCCTCACTTTTCTCCCAACCCCAAACATAACGGTAGGGGAAGCGAGGTGCAGAGGGGTCTGGGCCAGAGAAGCATACGCATCGCTGCCGAGTGAACCACACCGGACAAAAACCCTCATCCCTTCCCCCACCTCTAGGAACCAGATTGGGACCGAACGGTCCTTCCGCCCCCATCCCACACCTCGGCTTAACGACCGTGGGTTGTCCTCCCGTTCCCCAAACTTCCGACCCTTTCAGAGACCGTCCAAGTCATAAGATCACCCCTTCTGGAAAGGGGAGTCGTTTTTCGCTCTCAGCTCAAGCAGATTCAGCCATTTGGTGACGACACCTCCTTAAAACCTATTCCAAGAGAAGCTAACCTAGCCCTCCACGTCCTCCGCAGTTCATCTCCCACCCCATCCGACCCCAACCCGCACCCCAGGCTTTCCCGGGGGTGGAAAAGGACTTAGGAATGCCCCGGATTTTTAGCGTTGAGCCCAAAGCTACCTGCTGAATTGGGGGTGAATCCCCAAAAGGGGACCAAAAAGACATGGAGTGGAATGCAACACACACACATAACACACACAACGCATCCCACCTCGCCGCCCACTCCCGCCCTCCTCCCCAGTCCAGGAAACCGCGGGCCTCGCCGCCTTCGCCCCGGGCCTGTCCCTCCCGGGACTCACTGAGGAGCCGCCGCCGCCTCGCCAGCTCCCGAGCGCGAGTTGGAGGAAAAGTTGGGCGGCGGGAAGAGCGGCGGGACGAGCGCAGGGAGGGGGCGCAGGAGACGCGGACGGAGGGAAGGGAGGGGAGACCCAAGGGGCGCGGATCGCCCGGGAGGGAGCCAGGAGGTGAAAGGGGCGGGCGGCGAGCGGAGGGAGGCGCCGGCCCCGGCTGGGCTGCGGCGGGCAAAGCGCGCAGCCGGGAGGCTCCGGCGCCGGGGGCCGCTCGGGACGCCAAGCCCGCCCCAGATCCGGGGGCGCCGCGGCTCTTACCTCGCTCGGCGTGGAGGTTCCGCCTCGGGAGAGTCCGCCGTGGCTTGTGCGAGCGGGCGTGTGCCCGCGTCCCCGGCTCCGGCCCGCCGCCCCCGGGCTCTGTTCGGGTCCTGGCGGGGTCGCAAGAGCTCCGCGGCCGGCGCTCGACTCCCGGCGGCGCTCGGTGCTCGGCGCCTCCAGCCCGGGCGGGAACAATGGAGCCGGAGCTGGTGCCCCGGAGGCGGGGCGGGGGGAGGGCTCCCGTCCGCCACCCGGGGTCTCCAGACCTTGTGCCCCCCTCCTCCAGAACGCAGCGGCGGCGCCTCACTTTCCTTGCAGACCGGGCTCCATCGCCCTGCGGAGGCCCCGGCGCCGCGGCGTGCCCGACTGCAGCACGGGTACCGTGCGCCCTGCGGGGCGCCCCGAGCTCGGACCGGAGAAAAGTCCTTGGGTTCCGCGGCTTTTCAAGCAGCGGCGCGCTCGCGGCCGGGGAAGGCGAGGTCGCCGCAATGCGCTACGAGGGGTCTCGGTCCCGTCCGGACGTGGCCGCCCAGCTCCCGGCACACCCGGGTTCCTCCGCGCGCTGCGGCTGCACCGGCGTCCCGGCTCCCGCTAGCTGCCGCCCGCCGCCGAGGACGCCGCGCCTGTGGCCGCAAGAGCGCTCCGAGCGCTATGCGCCGGCGGGGCGCGAGGGCTCGCTCTCTCACTCCCACCCGCGCTGGTCCCTCCTCCGCCTCCGCCCCCTGCAGCTGCCTGCTGGGCCTTGTAGTTCCCCAGCCGCGGCCCCAAAGGACGGGGAGCGGGCCGAGCTGTCCGGCGCTCTGCCCTTCTCTTCCTACAGCCTGGTCTCCTTTGGCGTTTGCGCCCCTGCATCTGAGCACGTCCCAGAGGGCGCCGGAATGTCAGGCCCTAGACATAGCAGCGGTTTGGGGGCTAGGGGGCAGGTGAAGAGACGCCGCAGCCTTGAGGTTGTACCTGGTAGCGTGGGCTTTGGAGTCTGTGCGCCTTGGGGAAATGATTTTCGCGCTCTAAATCTCTGTTTTCCCATCTGTAAATGGGGGATAATAGTGCTTTTCACATAGAGTTGAGGCGTCAACGAGGGCCTAGCGCATAGTTAACACTTAGTAAATACAAGCCGGTTTTATTATAAGGTCAGCCCCTCCTCAAACCCTTCCCTTGGATTTCAGCTTTCCCCAGCCACATAATTTAGGTTTTGTGGTCCACCGGGAACTGGACCCTGTAAATTCTACAGCGATGCTGTTGGCTTCCAGAAGTCTCCAGCCTGCAGTGAATGTCTAGGAAGCAAAGAGTAAGCAGTGGGAGTTGAGGGGAGACGTGTGGTTGGTTTGGAAATTAATCACAGCCCACTCAGAACACCCTCCAGTACTGTGGAACACAGGAAAGTGGCTAAAATGCTTCCCCCTGAGTCTTCCCGCGAAGTGGTATAATGTAGTGGTTCCCTAATCCAGATGGACACGGGTCCTAGGGAACGTCTGAAAAATACAAGTTCATGGGCCTGCTCAGACATGAGGAATCACGCTGTCCCAGGAAGGAGCCAAGAGCCTTTATTTTTTCCAAGGCTCCTTGGGGCGTGTGATGTGAGCCCAGGCTGAGGCCACCATTGGGGTGGGAAGTAGGCAGCACTTGGTCTGAAGGATTCCTCCATTCTGTCCATCATTTATGAAGTTTGATGTAGGACAAATCATGCATCTGATAAAATCAAAACGGGGTATCTGTTGATACTCCTTCACAAGATGGTCATAAGAATCAAATAAAATAATAGCTCTCAGTGGACCAAAAATATTACACAAATGGAAGTCACTATGAAAGGTAGTGGCAGGGCCTGTTCCCTTACCATCACCCACCTCAACCCCGAAACTTGTAGAAGTTTGAATACTGAATGAGATCCCCCCACCCAACTCCTCACCCAACCCACCCACGCCTCCCTGGCTAATTTAAGAAAAGAGTTGGCCGGGTGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATCGAGACTATCCTTGCCAACAAGGTGAAACCCCGTCTCTACTAAAATACAAAAAAATTAGCCAGGCATGGTGGCGCTTGCCTGTAATCCCAGCTACTGGGGAGGCTGCGGCAGAGGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAAGAAAAGAAAAAATGGTCCTCGCGCTATTTTTCTAATCCACCAGTAGGTGACAGACTAGTGGCCAACACAGTGTTATTCACATAGTAGACACTCATGAAATCCCTTGACTGGCCAAAGAGCAAATATTCAATAAGTATTTGTTGAACAAATGAGTAAATAAACAACTAAATTACAGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAAGCGGGAGGATCACTTGAAGCCAGAAGTTCAAGACCAGCCTGGGAAACAAAGTGAGCCCTTGTCTCTACAAAATATTTTTAAAAATTAGCTGGAGGTGGAGGCTGAAGAAGGAGGATGGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCCAGCCACTACACTCCAGCCTGGGCGACAGAGTAAGACCCTGTCTCAAAACAAAATAATACAAAACAAAAAATGAGAAACAAGAACTCATATCTTTGTTGAATAAATGAACTTCAGCCACTGTTTATAGGGTTTTCCCCTAAGAGCCACCATTTAA	G	T38463238C	FGFR1	Single_allele	noncoding	Pathogenic
8	39017349	G	GATAT	G39017355T	ADAM9	NM_003816.3(ADAM9):c.543_546dup:p.Glu183fs	coding	Pathogenic
8	39023332	A	AT	A39023343T	ADAM9	NM_003816.3(ADAM9):c.914+17dup	noncoding	Benign
8	39023332	A	ATT	A39023343T	ADAM9	NM_003816.3(ADAM9):c.914+16_914+17dup	noncoding	Benign
8	39026823	G	GTTTC	C39026826T	ADAM9	NM_003816.3(ADAM9):c.1130+15_1130+16insTCTT	noncoding	Benign
8	39054602	GAA	G	A39054621G	ADAM9	NM_003816.3(ADAM9):c.1395+48_1395+49del	noncoding	Benign
8	39054602	G	GA	G39054623A	ADAM9	NM_003816.3(ADAM9):c.1395+49dup	noncoding	Benign
8	39055767	GCTCAAGTAAGATAT	G	T39055769A	ADAM9	NM_003816.3(ADAM9):c.1588_1591+10del	coding	Pathogenic
8	39082624	A	AT	C39082638T	ADAM9	NM_003816.3(ADAM9):c.1882-4dup	noncoding	Benign
8	39082624	A	ATT	C39082638T	ADAM9	NM_003816.3(ADAM9):c.1882-5_1882-4dup	noncoding	Benign/Likely_benign
8	39082624	AT	A	T39082637C	ADAM9	NM_003816.3(ADAM9):c.1882-4del	noncoding	Benign
8	39101844	A	AT	C39101855T	ADAM9	NM_003816.3(ADAM9):c.2299-9dup	noncoding	Benign
8	39101844	AT	A	T39101854C	ADAM9	NM_003816.3(ADAM9):c.2299-9del	noncoding	Benign
8	41655404	AC	A	C41655408A	ANK1	NM_000037.4(ANK1):c.*385del	noncoding	Benign/Likely_benign
8	41662256	C	CA	G41662268A	ANK1	NM_000037.4(ANK1):c.5479-326dup	noncoding	Benign
8	41663700	C	CCCCTG	T41663702C	ANK1	NM_000037.4(ANK1):c.5436_5437insCAGGG:p.Glu1813fs	coding	Pathogenic
8	41672629	TGA	T	A41672633T	ANK1	NM_000037.4(ANK1):c.4819_4820del:p.Ser1607fs	coding	Pathogenic
8	41672908	GT	G	T41672909A	ANK1	NM_000037.4(ANK1):c.4541del:p.Tyr1514fs	coding	Pathogenic
8	41688536	G	GT	A41688538T	ANK1	NM_000037.4(ANK1):c.4157dup:p.Tyr1386Ter	coding	Pathogenic
8	41692655	TC	T	C41692658T	ANK1	NM_000037.4(ANK1):c.3850del:p.Asp1284fs	coding	Pathogenic
8	41692856	G	GGACAGTCCGAC	A41692868G	ANK1	NM_000037.4(ANK1):c.3639_3649dup:p.Pro1217fs	coding	Pathogenic
8	41692948	GC	G	C41692951G	ANK1	NM_000037.4(ANK1):c.3630-73del	noncoding	Benign
8	41693915	AGGCGCAGGCTG	A	G41693917T	ANK1	NM_000037.4(ANK1):c.3504_3514del:p.Ser1169fs	coding	Pathogenic
8	41694643	CT	C	T41694644G	ANK1	NM_000037.4(ANK1):c.3275del:p.Gln1092fs	coding	Pathogenic
8	41695196	GATCT	G	A41695197G	ANK1	NM_000037.4(ANK1):c.3092_3095del:p.Gln1031fs	coding	Pathogenic
8	41695269	A	ACCACGAG	T41695278C	ANK1	NM_000037.4(ANK1):c.3016_3022dup:p.Val1008fs	coding	Pathogenic
8	41696375	GC	G	C41696380G	ANK1	NM_000037.4(ANK1):c.2947del:p.Ala983fs	coding	Pathogenic
8	41701607	GCTTATCACTGA	G	T41701610A	ANK1	NM_000037.4(ANK1):c.2393_2403del:p.Val798fs	coding	Pathogenic
8	41701613	CACTG	C	G41701617A	ANK1	NM_000037.4(ANK1):c.2394_2397del:p.Ser799fs	coding	Pathogenic
8	41701617	GACTA	G	C41701623A	ANK1	NM_000037.3(ANK1):c.2390_2393delTAGT	coding	Pathogenic
8	41701666	CA	C	A41701667C	ANK1	NM_000037.4(ANK1):c.2389-45del	noncoding	Benign
8	41704467	GC	G	C41704470A	ANK1	NM_000037.4(ANK1):c.2102del:p.Gly701fs	coding	Pathogenic
8	41709117	T	TAAAC	A41709137C	ANK1	NM_000037.4(ANK1):c.1801-158GTTT[5]	noncoding	Benign
8	41714245	TCAGGCCATTCTG	T	C41714250G	ANK1	NM_000037.4(ANK1):c.1702-3_1710del	coding	Pathogenic
8	41715823	T	TGCAC	A41715828G	ANK1	NM_000037.4(ANK1):c.1427_1430dup:p.Ala478fs	coding	Pathogenic
8	41718231	CA	C	A41718233G	ANK1	NM_000037.4(ANK1):c.1108-28del	noncoding	Benign
8	41723147	GC	G	C41723151G	ANK1	NM_000037.4(ANK1):c.886del:p.Ala296fs	coding	Pathogenic
8	41725765	G	GA	G41725769A	ANK1;LOC124153154	NM_000037.4(ANK1):c.607dup:p.Ser203fs	coding	Pathogenic
8	41727289	AAACTT	A	T41727293C	ANK1	NM_000037.4(ANK1):c.382_386del:p.Lys128fs	coding	Pathogenic
8	41933243	TGGCTGCTGTGGAGGCGGTGGTGGC	T	T41933252C	KAT6A	NM_006766.5(KAT6A):c.4953_4976del:p.Pro1652_Pro1659del	coding	Benign/Likely_benign
8	41933268	G	GGCT	G41933282C	KAT6A	NM_006766.5(KAT6A):c.4940AGC[5]:p.Gln1650dup	coding	Benign/Likely_benign
8	41933820	TGA	T	A41933822G	KAT6A	NM_006766.5(KAT6A):c.4398_4399del:p.Gln1467fs	coding	Pathogenic
8	41933945	TAC	T	C41933947G	KAT6A	NM_006766.5(KAT6A):c.4273_4274del:p.Val1425fs	coding	Pathogenic
8	41937377	AT	A	T41937381C	KAT6A	NM_006766.5(KAT6A):c.3230del:p.Asn1077fs	coding	Pathogenic
8	41941417	TG	T	G41941418T	KAT6A	NM_006766.5(KAT6A):c.2463del:p.Asn821fs	coding	Pathogenic
8	41946529	C	CAT	C41946531T	KAT6A	NM_006766.5(KAT6A):c.1996+61_1996+62insTA	noncoding	Benign
8	41948901	A	ACAT	A41948931T	KAT6A	NM_006766.5(KAT6A):c.1740+294ATG[10]	noncoding	Benign
8	41948901	A	ACATCAT	A41948931T	KAT6A	NM_006766.5(KAT6A):c.1740+294ATG[11]	noncoding	Benign
8	41948901	A	ACATCATCAT	A41948931T	KAT6A	NM_006766.5(KAT6A):c.1740+294ATG[12]	noncoding	Benign
8	41948901	ACAT	A	T41948928A	KAT6A	NM_006766.5(KAT6A):c.1740+294ATG[8]	noncoding	Benign
8	41955023	T	TA	T41955034A	KAT6A	NM_006766.5(KAT6A):c.1598+263dup	noncoding	Benign
8	41955387	CA	C	A41955388G	KAT6A	NM_006766.5(KAT6A):c.1506del:p.Asp503fs	coding	Pathogenic
8	41977224	A	AC	T41977225C	KAT6A	NM_006766.5(KAT6A):c.1146_1147insG:p.Tyr383fs	coding	Pathogenic
8	41977232	TC	GA	T41977232G	KAT6A	NM_006766.5(KAT6A):c.1138_1139inv:p.Glu380Ser	coding	Benign
8	42272123	CA	C	A42272125C	IKBKB	NM_001556.3(IKBKB):c.25del:p.Thr9fs	coding	Pathogenic
8	42315919	TC	T	C42315923A	IKBKB	NM_001556.3(IKBKB):c.801-287del	noncoding	Benign
8	42315929	G	GC	T42315930C	IKBKB	NM_001556.3(IKBKB):c.801-281_801-280insC	noncoding	Benign
8	42317787	GT	G	T42317791G	IKBKB	NM_001556.3(IKBKB):c.1240+20del	noncoding	Benign
8	42318689	C	CT	A42318699T	IKBKB	NM_001556.3(IKBKB):c.1364+23dup	noncoding	Benign
8	42321933	G	GA	C42321939A	IKBKB	NM_001556.3(IKBKB):c.1731dup:p.Pro578fs	coding	Pathogenic
8	42322433	CTG	C	G42322435T	IKBKB	NM_001556.3(IKBKB):c.1927_1928del:p.Val643fs	coding	Pathogenic
8	42430134	CTG	C	T42430137C	SLC20A2	NM_001257180.2(SLC20A2):c.1637_1638del:p.Thr546fs	coding	Pathogenic
8	42437068	C	CGGGT	C42437074G	SLC20A2	NM_001257180.2(SLC20A2):c.1440_1443dup:p.Glu482fs	coding	Pathogenic
8	42439645	GTAATTTGCCTAAAGAAAACAAAGTCA	G	A42439648C	SLC20A2	NM_001257180.2(SLC20A2):c.731-18_738del	coding	Pathogenic
8	42463100	TA	T	A42463110T	SLC20A2	NM_001257180.2(SLC20A2):c.431-11del	noncoding	Benign
8	42463100	T	TA	T42463111A	SLC20A2	NM_001257180.2(SLC20A2):c.431-11dup	noncoding	Benign
8	42472298	GTTGGCAACATCGT	G	G42472302C	SLC20A2	NM_001257180.2(SLC20A2):c.80_92del:p.Asn27fs	coding	Pathogenic
8	42838118	CTTCT	C	T42838123G	THAP1	NM_018105.3(THAP1):c.482_485del:p.Lys161fs	coding	Pathogenic/Likely_pathogenic
8	42838255	CA	C	A42838257T	THAP1	NM_018105.3(THAP1):c.348del:p.Ile116fs	coding	Pathogenic
8	42839549	A	AT	A42839556T	THAP1	NM_018105.3(THAP1):c.72-174dup	noncoding	Benign
8	42856416	TTC	T	T42856421C	RNF170	NM_030954.4(RNF170):c.518_519del:p.Arg173fs	coding	Pathogenic
8	43103699	GA	G	A43103700C	POMK	NM_032237.5(POMK):c.152del:p.Asp51fs	coding	Pathogenic
8	43122275	T	TATCA	C43122280A	POMK	NM_032237.5(POMK):c.452_455dup:p.His152fs	coding	Pathogenic
8	43140581	T	TCGGGGCGCGATGCC	A43140597G	HGSNAT	NM_152419.3(HGSNAT):c.87_100dup:p.Gln34fs	coding	Pathogenic
8	43146783	AT	A	T43146784C	HGSNAT	NM_152419.3(HGSNAT):c.119-164del	noncoding	Benign
8	43146909	CT	C	T43146925A	HGSNAT	NM_152419.3(HGSNAT):c.119-23del	noncoding	Benign
8	43146955	C	CA	G43146963A	HGSNAT	NM_152419.3(HGSNAT):c.133dup:p.Arg45fs	coding	Pathogenic
8	43169057	TTTAA	T	A43169061C	HGSNAT	NM_152419.3(HGSNAT):c.564-112_564-109del	noncoding	Benign
8	43169165	A	AT	C43169170T	HGSNAT	NM_152419.3(HGSNAT):c.564-4dup	noncoding	Benign
8	43170627	GTTCAGCCAGCAACGTGGCGTCTATCTGCCCTGCCGCCCCGCCTCCGCAGCGTGGACACC	G	C43170633G	HGSNAT	NM_152419.3(HGSNAT):c.682_740del:p.Pro228fs	coding	Pathogenic
8	43170669	CT	C	T43170670C	HGSNAT	NM_152419.3(HGSNAT):c.719del:p.Leu240fs	coding	Pathogenic
8	43178089	G	GGGATCTTCCATTTTTCTTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A43178107T	HGSNAT	NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT:p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer	coding	Pathogenic
8	43182162	CGCATTCCTGGTGTGCT	C	T43182166G	HGSNAT	NM_152419.3(HGSNAT):c.1034_1049del:p.Ile345fs	coding	Pathogenic
8	43182186	T	TATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA	T43182187A	HGSNAT	NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA:p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer	coding	Pathogenic
8	43191513	TG	T	G43191515C	HGSNAT	NM_152419.3(HGSNAT):c.1170del:p.Trp390fs	coding	Pathogenic
8	43192400	CG	C	G43192401A	HGSNAT	NM_152419.3(HGSNAT):c.1348del:p.Asp450fs	coding	Pathogenic
8	43193842	AG	A	G43193844T	HGSNAT	NM_152419.3(HGSNAT):c.1464+1del	coding	Pathogenic
8	43194052	C	CA	T43194060A	HGSNAT	NM_152419.3(HGSNAT):c.1464+216dup	noncoding	Benign
8	43196990	A	AT	C43196992T	HGSNAT	NM_152419.3(HGSNAT):c.1508dup:p.Leu504fs	coding	Pathogenic
8	43197738	CT	C	T43197739C	HGSNAT	NM_152419.3(HGSNAT):c.1610del:p.Leu537fs	coding	Pathogenic
8	47713563	TC	T	C47713565T	SPIDR	NM_001080394.4(SPIDR):c.2265del:p.Cys756fs	coding	Pathogenic
8	47789059	G	GA	G47789069A	PRKDC	NM_006904.7(PRKDC):c.10759-11dup	noncoding	Benign
8	47800996	T	TA	C47801004A	PRKDC	NM_006904.7(PRKDC):c.9923-17dup	noncoding	Benign/Likely_benign
8	47800999	AAAAAC	A	C47801014T	PRKDC	NM_006904.7(PRKDC):c.9923-28GTTTT[2]	noncoding	Benign
8	47819513	TAA	T	A47819533G	PRKDC	NM_006904.7(PRKDC):c.9337-5_9337-4del	noncoding	Benign
8	47819513	TA	T	A47819534G	PRKDC	NM_006904.7(PRKDC):c.9337-4del	noncoding	Benign
8	47839995	AAT	A	T47839997G	PRKDC	NM_006904.7(PRKDC):c.7454+19_7454+20del	noncoding	Benign
8	47852799	GA	G	A47852803G	PRKDC	NM_006904.7(PRKDC):c.6894-16del	noncoding	Benign
8	47890129	TATA	T	A47890156G	PRKDC	NM_006904.7(PRKDC):c.4071+101TAT[8]	noncoding	Benign
8	47890129	T	TATA	G47890159A	PRKDC	NM_006904.7(PRKDC):c.4071+101TAT[10]	noncoding	Benign
8	47893254	A	AC	A47893255C	PRKDC	NM_006904.7(PRKDC):c.3731_3732insG:p.Arg1245fs	coding	Benign
8	47893255	A	AG	T47893258G	PRKDC	NM_006904.7(PRKDC):c.3730dup:p.Leu1244fs	coding	Benign
8	47913773	TA	T	A47913774C	PRKDC	NM_006904.7(PRKDC):c.2781+127del	noncoding	Benign
8	47935068	G	GA	G47935074A	PRKDC	NM_006904.7(PRKDC):c.1448-15dup	noncoding	Benign
8	47936072	AAC	A	A47936079T	PRKDC	NM_006904.7(PRKDC):c.1279-180GT[3]	noncoding	Benign
8	47953735	TAAG	T	A47953740T	PRKDC	NM_006904.7(PRKDC):c.622-19_622-17del	noncoding	Benign
8	47955957	TA	T	A47955967T	PRKDC	NM_006904.7(PRKDC):c.325-10del	noncoding	Benign
8	47955957	T	TA	T47955968A	PRKDC	NM_006904.7(PRKDC):c.325-19dup	noncoding	Benign
8	47970502	AT	A	T47970504A	MCM4	NM_182746.3(MCM4):c.1435-7del	noncoding	Benign
8	47975702	CT	C	T47975707A	MCM4	NM_182746.3(MCM4):c.2366-8del	noncoding	Benign
8	54458520	C	CAG	T54458521A	SOX17	NM_022454.4(SOX17):c.307+75_307+76insAG	noncoding	Benign
8	54459698	A	ACACCAGCACCAG	C54459728G	SOX17	NM_022454.4(SOX17):c.954GCACCA[6]:p.316QH[7]	coding	Benign
8	54621037	CT	C	T54621038C	RP1	NM_006269.2(RP1):c.72del:p.Arg25fs	coding	Pathogenic
8	54621116	GGTCAGGGTGGTGGTCAAC	AGACCCCCAATT	G54621116A	RP1	NM_006269.2(RP1):c.150_168delinsAGACCCCCAATT:p.Val51fs	coding	Pathogenic
8	54621219	A	AC	T54621224C	RP1	NM_006269.2(RP1):c.257dup:p.Arg87fs	coding	Pathogenic
8	54621249	C	CT	G54621251T	RP1	NM_006269.2(RP1):c.284dup:p.Glu96fs	coding	Pathogenic
8	54621273	TCCTA	T	C54621278T	RP1	NM_006269.2(RP1):c.312_315del:p.Leu105fs	coding	Pathogenic
8	54621434	AG	A	G54621435T	RP1	NM_006269.2(RP1):c.469del:p.Val157fs	coding	Pathogenic
8	54621454	AC	A	C54621457G	RP1	NM_006269.2(RP1):c.491del:p.Pro164fs	coding	Pathogenic
8	54621477	CT	C	T54621479C	RP1	NM_006269.2(RP1):c.513del:p.Leu171_Leu172insTer	coding	Pathogenic
8	54625154	TTGGGAGAATGCTACTGTGGACACAGATA	T	G54625156C	RP1	NM_006269.2(RP1):c.1274_1301del:p.Trp425fs	coding	Pathogenic
8	54625343	AG	A	G54625344A	RP1	NM_006269.2(RP1):c.1462del:p.Glu488fs	coding	Pathogenic
8	54625600	ACT	A	T54625602A	RP1	NM_006269.2(RP1):c.1720_1721del:p.Ser574fs	coding	Pathogenic
8	54625723	A	AT	C54625729T	RP1	NM_006269.2(RP1):c.1846dup:p.Ser616fs	coding	Pathogenic
8	54625867	AG	A	G54625868A	RP1	NM_006269.2(RP1):c.1986del:p.Lys663fs	coding	Pathogenic
8	54625882	CT	C	T54625883G	RP1	NM_006269.2(RP1):c.2001del:p.Val668fs	coding	Pathogenic
8	54625883	TG	T	G54625884T	RP1	NM_006269.2(RP1):c.2002del:p.Val668fs	coding	Pathogenic
8	54625892	C	CA	G54625898A	RP1	NM_006269.2(RP1):c.2015dup:p.Lys673fs	coding	Pathogenic/Likely_pathogenic
8	54625898	GA	G	A54625900G	RP1	NM_006269.2(RP1):c.2018del:p.Lys673fs	coding	Pathogenic
8	54625901	G	GA	T54625908A	RP1	NM_006269.2(RP1):c.2025dup:p.Ser676fs	coding	Pathogenic
8	54625953	GC	G	C54625954A	RP1	NM_006269.2(RP1):c.2072del:p.Ala691fs	coding	Pathogenic
8	54625958	CA	C	A54625961G	RP1	NM_006269.2(RP1):c.2079del:p.Gly694fs	coding	Pathogenic
8	54625973	T	TAAGAATGAGAGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A54625986G	RP1	NM_006269.2(RP1):c.2103_2104insGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGAGAGA:p.Ile702delinsGlyTer	coding	Pathogenic
8	54625987	T	TG	A54625988G	RP1	NM_006269.2(RP1):c.2105_2106insG:p.Ile702fs	coding	Pathogenic
8	54625991	CA	C	A54625992C	RP1	NM_006269.2(RP1):c.2110del:p.Thr704fs	coding	Pathogenic
8	54626054	G	GA	T54626056A	RP1	NM_006269.2(RP1):c.2173dup:p.Ile725fs	coding	Pathogenic
8	54626055	AT	G	A54626055G	RP1	NM_006269.2(RP1):c.2173_2174delinsG:p.Ile725fs	coding	Pathogenic
8	54626152	TC	T	C54626154A	RP1	NM_006269.2(RP1):c.2272del:p.His758fs	coding	Pathogenic
8	54626203	TA	T	A54626205C	RP1	NM_006269.2(RP1):c.2323del:p.Thr775fs	coding	Pathogenic
8	54626212	GA	G	A54626216T	RP1	NM_006269.2(RP1):c.2334del:p.Lys778fs	coding	Pathogenic
8	54626227	TAAATA	T	A54626234G	RP1	NM_006269.2(RP1):c.2352_2356del:p.Ile785fs	coding	Pathogenic
8	54626443	GT	G	T54626446A	RP1	NM_006269.2(RP1):c.2564del:p.Ser854_Leu855insTer	coding	Pathogenic
8	54626452	CA	C	A54626456G	RP1	NM_006269.2(RP1):c.2574del:p.Val859fs	coding	Pathogenic
8	54626478	T	TTAAAAAGCCAGAAAAGAGAAAAGCAAAATGTCTATTCCGGTCTATTGCCTATTTTTTGAATTTGGATTTTGGTTTTCTTGCTATTGAGTTGTTTGAGTTCCTTATATATTTTGAGTAATAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A54626494G	RP1	NM_006269.2(RP1):c.2611_2612insGAGAAAAGCAAAATGTCTATTCCGGTCTATTGCCTATTTTTTGAATTTGGATTTTGGTTTTCTTGCTATTGAGTTGTTTGAGTTCCTTATATATTTTGAGTAATAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAAGCCAGAAAA:p.Lys871delinsArgGluLysGlnAsnValTyrSerGlyLeuLeuProIlePheTer	coding	Pathogenic
8	54626488	AG	A	G54626489A	RP1	NM_006269.2(RP1):c.2607del:p.Lys871fs	coding	Pathogenic
8	54626552	CA	C	A54626553G	RP1	NM_006269.2(RP1):c.2671del:p.Arg891fs	coding	Pathogenic/Likely_pathogenic
8	54626625	T	TA	T54626627A	RP1	NM_006269.2(RP1):c.2744dup:p.Tyr915Ter	coding	Pathogenic
8	54626628	ATACAGAGTTGGTTGCAG	A	T54626629A	RP1	NM_006269.2(RP1):c.2747_2763del:p.Ile916fs	coding	Pathogenic
8	54626660	TC	T	C54626662A	RP1	NM_006269.2(RP1):c.2780del:p.Pro927fs	coding	Pathogenic
8	54626747	TGATCCCCATAC	T	G54626748A	RP1	NM_006269.2(RP1):c.2866_2876del:p.Asp956fs	coding	Pathogenic
8	54626798	TA	T	A54626800G	RP1	NM_006269.2(RP1):c.2918del:p.Lys973fs	coding	Pathogenic
8	54627517	GTTCCACGGTCAACA	G	C54627521A	RP1	NM_006269.2(RP1):c.3639_3652del:p.Thr1214fs	coding	Pathogenic
8	54627608	TGA	T	A54627610G	RP1	NM_006269.2(RP1):c.3728_3729del:p.Glu1243fs	coding	Pathogenic
8	54627677	TA	T	A54627679G	RP1	NM_006269.2(RP1):c.3797del:p.Lys1266fs	coding	Pathogenic
8	54628077	TG	T	G54628078T	RP1	NM_006269.2(RP1):c.4196del:p.Cys1399fs	coding	Pathogenic/Likely_pathogenic
8	54628093	GT	G	T54628094G	RP1	NM_006269.2(RP1):c.4212del:p.Ser1404fs	coding	Pathogenic
8	54628462	TAATC	T	A54628464G	RP1	NM_006269.2(RP1):c.4582_4585del:p.Ile1528fs	coding	Pathogenic
8	54628466	CAGTA	C	T54628469A	RP1	NM_006269.2(RP1):c.4587_4590del:p.Ser1529fs	coding	Pathogenic
8	54628589	TG	T	G54628591A	RP1	NM_006269.2(RP1):c.4709del:p.Gly1570fs	coding	Pathogenic/Likely_pathogenic
8	54629444	GA	G	A54629446G	RP1	NM_006269.2(RP1):c.5564del:p.Lys1855fs	coding	Pathogenic/Likely_pathogenic
8	54629684	A	AT	G54629688T	RP1	NM_006269.2(RP1):c.5805dup:p.Ala1936fs	coding	Pathogenic
8	54629720	CT	C	T54629722G	RP1	NM_006269.2(RP1):c.5840del:p.Leu1947fs	coding	Pathogenic
8	54630060	GA	G	A54630063T	RP1	NM_006269.2(RP1):c.6181del:p.Ile2061fs	coding	Pathogenic
8	56073675	G	GC	T56073680C	RPS20	NM_001023.4(RPS20):c.177+19dup	noncoding	Benign
8	56977776	TG	T	G56977777A	BPNT2	NM_017813.5(BPNT2):c.646+273del	noncoding	Benign
8	56980110	T	TTA	C56980113T	BPNT2	NM_017813.5(BPNT2):c.473_474dup:p.Thr159Ter	coding	Pathogenic
8	58492544	GA	G	A58492551G	CYP7A1	NM_000780.4(CYP7A1):c.1040-17del	noncoding	Benign/Likely_benign
8	58494585	CT	C	T58494586C	CYP7A1	NM_000780.4(CYP7A1):c.959del:p.Glu320fs	coding	Pathogenic
8	60189993	C	CA	T60190010A	CA8	NM_004056.6(CA8):c.*36-24dup	noncoding	Benign/Likely_benign
8	60222337	CAG	C	G60222339C	CA8	NM_004056.6(CA8):c.738+310_738+311del	noncoding	Benign
8	60266117	CT	C	T60266128C	CA8	NM_004056.6(CA8):c.293-69del	noncoding	Benign
8	60741786	T	TGGTG	C60741792G	CHD7	NM_017780.4(CHD7):c.356_359dup:p.Gly121fs	coding	Pathogenic
8	60741950	CT	C	T60741951C	CHD7	NM_017780.4(CHD7):c.519del:p.Pro174fs	coding	Pathogenic
8	60742205	AC	A	C60742207A	CHD7	NM_017780.4(CHD7):c.775del:p.His259fs	coding	Pathogenic
8	60742467	AAGAT	A	G60742469C	CHD7	NM_017780.4(CHD7):c.1037_1040del:p.Arg346fs	coding	Pathogenic
8	60742877	G	GT	G60742879T	CHD7	NM_017780.4(CHD7):c.1446dup:p.Val483fs	coding	Pathogenic
8	60743061	A	AC	A60743066C	CHD7	NM_017780.4(CHD7):c.1633dup:p.Gln545fs	coding	Pathogenic
8	60780897	TGAGTATA	T	G60780900A	CHD7	NM_017780.4(CHD7):c.1666-100_1666-94del	noncoding	Benign
8	60781106	AACAGC	A	C60781108G	CHD7	NM_017780.4(CHD7):c.1774_1778del:p.Gln592fs	coding	Pathogenic
8	60781139	AAAAC	A	A60781142C	CHD7	NM_017780.4(CHD7):c.1808_1811del:p.Asn603fs	coding	Pathogenic
8	60781181	GT	G	T60781182A	CHD7	NM_017780.4(CHD7):c.1848del:p.Asp618fs	coding	Pathogenic
8	60781204	GT	G	T60781205A	CHD7	NM_017780.4(CHD7):c.1871del:p.Val624fs	coding	Pathogenic
8	60781260	GA	G	A60781265G	CHD7	NM_017780.4(CHD7):c.1931del:p.Lys644fs	coding	Pathogenic
8	60781266	G	GA	G60781271A	CHD7	NM_017780.4(CHD7):c.1936dup:p.Arg646fs	coding	Pathogenic
8	60781270	AG	A	G60781272T	CHD7	NM_017780.4(CHD7):c.1938del:p.Arg646fs	coding	Pathogenic
8	60781280	C	CA	G60781288A	CHD7	NM_017780.4(CHD7):c.1953dup:p.Asp652fs	coding	Pathogenic
8	60781302	G	GAAAGAACCCAAGGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A60781319G	CHD7	NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA:p.Lys662fs	coding	Pathogenic
8	60781308	AC	A	C60781311A	CHD7	NM_017780.4(CHD7):c.1977del:p.Lys660fs	coding	Pathogenic
8	60781317	G	GA	G60781324A	CHD7	NM_017780.4(CHD7):c.1989dup:p.Glu664fs	coding	Pathogenic
8	60781429	AG	A	G60781431T	CHD7	NM_017780.4(CHD7):c.2096+1del	coding	Pathogenic
8	60781445	G	GA	C60781452A	CHD7	NM_017780.4(CHD7):c.2096+21dup	noncoding	Benign
8	60795015	CT	C	T60795018G	CHD7	NM_017780.4(CHD7):c.2129del:p.Ala709_Leu710insTer	coding	Pathogenic
8	60795077	A	AC	A60795079C	CHD7	NM_017780.4(CHD7):c.2189dup:p.Pro731fs	coding	Pathogenic
8	60795079	AC	A	C60795084A	CHD7	NM_017780.4(CHD7):c.2195del:p.Pro732fs	coding	Pathogenic
8	60795084	C	CA	C60795086A	CHD7	NM_017780.4(CHD7):c.2196dup:p.Pro733fs	coding	Pathogenic
8	60800366	CTGTCTTGGGTTTTTG	C	G60800368T	CHD7	NM_017780.4(CHD7):c.2239-20_2239-6del	noncoding	Pathogenic
8	60800438	G	GT	G60800439T	CHD7	NM_017780.4(CHD7):c.2289_2290insT:p.Glu764Ter	coding	Pathogenic
8	60800469	G	GA	T60800471A	CHD7	NM_017780.4(CHD7):c.2321dup:p.Asp774fs	coding	Pathogenic
8	60800567	A	ATGGACT	A60800574T	CHD7	NM_017780.4(CHD7):c.2376+43_2376+48dup	noncoding	Benign/Likely_benign
8	60801558	GA	G	A60801564T	CHD7	NM_017780.4(CHD7):c.2413del:p.Ile805fs	coding	Pathogenic
8	60804040	GAGAAGCATCATGATCCATTATGATGGAGTTGTGCAAACATAAAACTCACCTGGCAGAGGCACCGTAAGTCAGCACCTCATGTTAAATAGGGGTGGCTCAAGCATTTATGTTGTTCTAAACCCAGGTTAATGTCTATGATACCTAGTTGCATGAAATAGTTGGTGCCTATTTGAATTTTGAGGTAGATATATGAGTAGATACTTGGATTGTATAAAGCCTAATTATTTTGTTTTCCTTGTTTAGTCAGCTTGTAGCTGTTTCTGCTTTGAGCCATTCATCTTTGGAGGATAATTCAAATCCTTTTTTTTTTGTATCAGAAGGCCAAAAGTAGTTTTAAAAGTGAATTGTGACTGTATTCCCTAAAATTCTTTATTTTTCTTTAAGTTAACTACAGGACGTATTTTCAGAGTGTGTGTTTTAAGTATGTAGCTGAGCCTCCTAGAGTGTAAAGAAGGCAAAACTCTTAATCTCATCCATTGTCATGTCCTTATTTTTTCCCTAAGTGAACTGTGATTTGGTGTCTCTAGTAAAGTATACAGTAGATAGGGCCAAAAGTGAAAAGGGATTCATACCCACGCCTTATTGATAACTTTATTGAGGTGCTTTTTCATTCTTTTGTGTATTATTTGACAGAGTGTTCTGTTTTTTTGCTCTGTATTTTAGTTTCTTGACTGTGACTACTTAATTTAGTAGTAGGATGCATAGGAAAGGCCTAAGTTAGGCCTAGACTCTGGGTGGCTATTTAGAATCCAGGTGGCTGGAGAACTCATTTATTGCCTTCTCAAAGTTTCTGGTTTGTTTGAACAGTGGGACAAGTATGGCTTAATATGTTTGAAACTTTAAGTGTCATATGAATAATAAGGATTTCCCTAGACTAATTTTGGATCTAATGAAAAGATATATACATTTCTCAGAAAAATTCTATTTAATTCATAATATTACTGGGTTCTCAAATTTAAAGGTAGCTGCTCAAGAAATAAATCTGAGTGTTGTGTGTATGTATGGGAATAGTTCTTTGACTTAGTTATTCATTGCCTATGCCTGTTGTAGAATGGCTTCTGAAAATAGGGCTTAGAGGTGAGAGGTTTTAGGGTAGGGGCTGTTTGAAGCTGTCAACAGAGGCTGGTCAAACTGCCTCCCATTTAGTAAATAATTGAAATGATGTTTCTGAGGGCTTATGAATTCACACACTTTTGTTCAATTGTTTTACTGTTCAGTAAAAGAAAAGAGGTCAGCATGATCATATTTATATGAAAGGAACGGTGAAAAACAGCTCTATTTATAGTTTTAGGGGCAAGAAGGTGGTGATCCAATATGTGTGGTCCATTAAACAGAACCAAGTGTTGTATTCTGAAACATCCAAAAGATAACAGGCCCTGGGACACTTCTGTACCAGCTCCAGGTGCTGCTAAATGAAGTTTCAGAACCTGGTTGGTTCCTCCTAGGCAGCCCTAGACTCTCTTGTCAGGCATCTTCACAGCAGGTTCCCAGAGGAATAGCTGATCATGACAAGAAAATGGGTAGTAATGAGAGTTGGGGACAGATGGCTGTAAGAGTCAGAGCTTTCTGGGAACAGACTTGAGACAAAATAAAAAGTGTCTTTACTGTTCAAGATTTGATCCTGTATGTGTTGGTGCCCACTTAGAATTATGGGATGATGAGACCATTTAGAATGAGAAGAAAAGGGACAGTATGGGAGAAAAGATCAGACAGAAGAATCAGGAGAAATAATACGAGCATAGACATGATAAATCTTGTTTATGATTTATAACATATATATCAGTTATATAAATGATACATTTGATACATTTGAAGGCATTGAAAATGCCTTCAAAATTGAAAAAATATAATTATTATCAGAAGGGCAAAAGCTCAGACATTTGAGTTCCATTCTTGATTTGAATTTCATGATAATGCTGTGTGAAGAATCAAAGGATCTAGTTTCATCCTTGCTTCTCTTTTTCCCTGATCATCTACCATCTTTTTGTCTTTCTGCTGGAAGTCTGGTTCTATATAAAGATAATATATCTTAAAATGGGAGGCTGGGCGCAGTGGTTCAAGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGTGGGCAGATGATGAGGTCAGGAGATTGAGACCATCCTGTCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCGGGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATGGCGTGAACCTGCGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCGTCTCAAAAAAAAAGGGAGTAGAATGGGGAAATATTAAGGCTAGAGAGAAAAAGGTAGGGTGGGTCTTGGATGGATGGCCACTTGAACTTGGTAGTATTTATTTATAAATTAATTCCATGTTCCATTTATGTTGCTGGTTCTTGAAGCCATCCAACAAACATTTCTTTTTATTTTGGATAACTAAAAGTTTATGACATAGAAGGTGTTCTGATACATTGGTTTAAAATAGTGCTTTATAGTTATTACGTTTCATAGATCCATTATGGCACAACCAGATATTAATAGATATTGACCACTCCTGCATATCCAGACTCCTTCTTGATGATTTCTAGACAGGCCAAAACTGTTTAAAATATAGGTTTAGCTCGGTGTGGTGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCTGAGACGGGGGGATTGCTTGAGCCTAAGAGTTTGAGACCAGCCTGGGCAACATGGTGTAAAACCCAGCCTACGGAAAATACAGAATTAGCTGAGCATGGTGATGTGTGCCCGTAGTCCCAGCTACTTGGGGAGGTGGTAGGGAGGGGCAGGGGTTGCTGAGGCAGGAGGATTGCTTGAGCCTGGGAGGTTGAGTTTGCAGTGAGCCATGTTTGCACCACTCCACTCAAGCCTGGGTGACAAAGCAAATCCTATCTCAGAAAAGAAAGAAAAAAAATTAGGTTTAACTGTTATAAGTGAGAGTTTCAAAGAAAAGTTTAAGTTCACAATCTTTGAAAATGGTTTGAAGGTTGGAGATTGAGGGGACTAGTACCTTTGAACAGATCTGTGCCAGTCTGTTATCCAGTAGAAGCCTTTGCTCTTTTGTTTGTTCTTTGCCATGTTCCTACTTGCCTTGATTTTCTTCGAAGCATTTCGGAGGTGGCTGAACAGCCATACATGACCCTCAAGGCAGGCTTGGGGTCTCTTGTAAGAGTGTAAAAGCAATCCCCAAACATCTGTAAGTGGTGTTTATATTTTAGATCCCTGATTTATCTGATCAAATGTTCCAGAAGGAAATTACATATTATGACTTGTTTAAGAGCCTAAAACCAAAAGGGGAATAAAAAGAGATGCCTAAAATACCATCTGAACATCATCTTCTGCATACACTACAGCAGATAGGATTAAGGGAGACATTATAGATAATCTTACTACTGAAAACTCTTGATTTGGCTGACATGTATCACAATTTTAACCTTACCTAAATGTAGTATTTGGAGTGTTAATTTTATTTGGCTGCTATGTGTGTGAGACATCTTGTCTGAGAGATTTTAATTGTACCATTGAGTGAAACTAAGACTATGAATAGTGATGCACTGAAATTACAGCATAAGAACAAGGTTTACTTTTATATGGTTTCTTGTTTAGAGTTATTAAGTATATGGAGAAATAAATGTCTTTTAAATATTTTAAAACATTACAAAACCCACAATGTAAAGTTGCCATGAGGCAGCCAAAAATAATACATATGGCATTCAGGAGAGCAGTTGCTAATTGGCTGCTGCCTGAGAAAATGGTACACTTGGCGTCTACTTAACACTGTGGGTTTGGCAGAAGGCCAAATTTGGGGTCAGGTTGTTGTGAATGAAGCTGCATGTGGTTAGGGAGGAGTTAAAGTGATTCATGTCTTAGAAGCTCTCGCACGTTGAGCAGAGGTGCGTGCATGGGCCTGAGCGTGGCAGTCTTCGTGGCCCTGGCCACCTCCCAGCACACGGTGTGCTCATCTTACGTGAAGGTCCTTTGCTGCTCTTTTCAGTCCTATTTTGTGCTCATATGGGAGTAAATCATTACTTTTAAAATATTCTAGTAGATGGTTTTAAATACATGCCTGAAATTTTCTTTTGTTGCAGAAGGAATCTGGAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTGTAAGTAAATTGTGATTCTGTTTTTAATGGGGGGCTATATTTTCCAAGTAGTAAACGACCATTTTTTTTTAAAGTTGGGAAATTAAGAAACTTTGGTATGATTTCTTTAGTCATCATGGCCTGGGAGGCCATTTTTTAACCAACTTTTGTATGTTTGATATTTTATGAATTTTTCTGGAAAATGTGTAATTGGTGTAAAAGTTGACTAACTTCTGTGTATAACCAATAAGTATTTTTTTAGAGAGGATAAAAACTTCT	G	G60804042C	CHD7	NM_017780.4(CHD7):c.2442+2449_2498+259del	noncoding	Pathogenic
8	60808264	CA	C	A60808269C	CHD7	NM_017780.4(CHD7):c.2495del:p.Asn832fs	coding	Pathogenic
8	60816095	T	TTGTC	C60816117G	CHD7	NM_017780.4(CHD7):c.2499-291TGTC[6]	noncoding	Benign
8	60816432	AGA	TG	A60816432T	CHD7	NM_017780.4(CHD7):c.2544_2546delinsTG:p.Lys848fs	coding	Pathogenic
8	60821795	GACTC	G	C60821799A	CHD7	NM_017780.4(CHD7):c.2707_2710del:p.His903fs	coding	Pathogenic
8	60821897	A	ATT	A60821898T	CHD7	NM_017780.4(CHD7):c.2805_2806insTT:p.Met936fs	coding	Pathogenic
8	60822066	AG	A	G60822069A	CHD7	NM_017780.4(CHD7):c.2881del:p.Glu961fs	coding	Pathogenic
8	60822581	GA	G	A60822584G	CHD7	NM_017780.4(CHD7):c.3039del:p.Gly1014fs	coding	Pathogenic
8	60823946	TCA	T	C60823947T	CHD7	NM_017780.4(CHD7):c.3309_3310del:p.Val1103_Ile1104insTer	coding	Pathogenic
8	60824013	C	CT	G60824016T	CHD7	NM_017780.4(CHD7):c.3377dup:p.Leu1126fs	coding	Pathogenic
8	60828703	CTG	C	T60828706G	CHD7	NM_017780.4(CHD7):c.3422_3423del:p.Val1141fs	coding	Pathogenic
8	60830493	G	GGCGGTGGTCAAGCTAA	C60830510G	CHD7	NM_017780.4(CHD7):c.3695_3710dup:p.Asn1237delinsLysArgTrpSerSerTer	coding	Pathogenic
8	60836130	ATT	A	T60836133C	CHD7	NM_017780.4(CHD7):c.3839_3840del:p.Phe1280fs	coding	Pathogenic
8	60836751	TA	T	A60836758G	CHD7	NM_017780.4(CHD7):c.3990-59del	noncoding	Benign
8	60836751	T	TA	G60836759A	CHD7	NM_017780.4(CHD7):c.3990-59dup	noncoding	Benign
8	60836946	T	TAA	C60836949A	CHD7	NM_017780.4(CHD7):c.4120_4121dup:p.Asn1374fs	coding	Pathogenic
8	60841648	GT	G	T60841652G	CHD7	NM_017780.4(CHD7):c.4542del:p.Phe1514fs	coding	Pathogenic
8	60841736	T	TG	A60841738G	CHD7	NM_017780.4(CHD7):c.4627dup:p.Asp1543fs	coding	Pathogenic
8	60841867	T	TC	A60841870C	CHD7	NM_017780.4(CHD7):c.4667dup:p.Arg1557fs	coding	Pathogenic
8	60844900	CT	C	T60844901A	CHD7	NM_017780.4(CHD7):c.4888del:p.Tyr1630fs	coding	Pathogenic
8	60844944	GA	G	A60844946C	CHD7	NM_017780.4(CHD7):c.4933del:p.Thr1645fs	coding	Pathogenic
8	60845364	TC	T	C60845366A	CHD7	NM_017780.4(CHD7):c.5167del:p.Gln1723fs	coding	Pathogenic
8	60845460	T	TA	T60845467A	CHD7	NM_017780.4(CHD7):c.5210+57dup	noncoding	Benign
8	60848554	AG	A	G60848555A	CHD7	NM_017780.4(CHD7):c.5251del:p.Glu1751fs	coding	Pathogenic
8	60849093	TC	T	C60849095T	CHD7	NM_017780.4(CHD7):c.5345del:p.Pro1782fs	coding	Pathogenic
8	60850501	A	AAGTACAACT	C60850511A	CHD7	NM_017780.4(CHD7):c.5414_5422dup:p.Ser1808Ter	coding	Pathogenic
8	60851041	TGATA	T	T60851044G	CHD7	NM_017780.4(CHD7):c.5547_5550del:p.Asp1849fs	coding	Pathogenic
8	60851318	A	AG	T60851321G	CHD7	NM_017780.4(CHD7):c.5665+1dup	coding	Pathogenic
8	60852230	ATC	A	C60852232G	CHD7	NM_017780.4(CHD7):c.5879_5880del:p.Ile1959_Ser1960insTer	coding	Pathogenic
8	60852512	A	ATC	A60852513T	CHD7	NM_017780.4(CHD7):c.5909_5910insTC:p.Glu1970fs	coding	Pathogenic
8	60852514	GA	G	A60852515G	CHD7	NM_017780.4(CHD7):c.5912del:p.Glu1971fs	coding	Pathogenic
8	60852647	TCA	T	C60852648G	CHD7	NM_017780.4(CHD7):c.6045_6046del:p.Phe2015fs	coding	Pathogenic
8	60852704	A	ATG	G60852707T	CHD7	NM_017780.4(CHD7):c.6102_6103dup:p.Glu2035fs	coding	Pathogenic
8	60853065	T	TATCACATCCTCAATGACC	C60853084A	CHD7	NM_017780.4(CHD7):c.6341_6358dup:p.Asp2119_Pro2120insHisHisIleLeuAsnAsp	coding	Pathogenic
8	60853149	TC	T	C60853151T	CHD7	NM_017780.4(CHD7):c.6426del:p.Ser2142_Leu2143insTer	coding	Pathogenic
8	60853255	A	AG	C60853257G	CHD7	NM_017780.4(CHD7):c.6531dup:p.Pro2178fs	coding	Pathogenic
8	60853351	CA	C	A60853352G	CHD7	NM_017780.4(CHD7):c.6627del:p.Glu2210fs	coding	Pathogenic
8	60853363	CTG	C	T60853366A	CHD7	NM_017780.4(CHD7):c.6641_6642del:p.Val2214fs	coding	Pathogenic
8	60853454	A	AAAGC	T60853459A	CHD7	NM_017780.4(CHD7):c.6730_6733dup:p.Leu2245fs	coding	Pathogenic
8	60853461	G	GA	G60853463A	CHD7	NM_017780.4(CHD7):c.6737dup:p.Asp2247fs	coding	Pathogenic
8	60856863	GC	G	C60856865A	CHD7	NM_017780.4(CHD7):c.7585del:p.His2529fs	coding	Pathogenic
8	60861004	CT	C	T60861005G	CHD7	NM_017780.4(CHD7):c.7710del:p.Val2571fs	coding	Pathogenic
8	60862284	CTT	C	T60862286G	CHD7	NM_017780.4(CHD7):c.7921_7922del:p.Leu2641fs	coding	Pathogenic
8	60862298	G	GA	G60862302A	CHD7	NM_017780.4(CHD7):c.7936dup:p.Arg2646fs	coding	Pathogenic
8	60862318	TA	T	A60862321C	CHD7	NM_017780.4(CHD7):c.7956del:p.Lys2652fs	coding	Pathogenic
8	60862330	GA	G	A60862332G	CHD7	NM_017780.4(CHD7):c.7967del:p.Lys2656fs	coding	Pathogenic
8	60862639	TA	T	A60862640G	CHD7	NM_017780.4(CHD7):c.8064del:p.Ile2688fs	coding	Pathogenic
8	60862795	AT	A	T60862798C	CHD7	NM_017780.4(CHD7):c.8076+146del	noncoding	Benign
8	60862809	T	TAATACATCATTTCTTACATC	A60862821T	CHD7	NM_017780.4(CHD7):c.8076+168_8076+169insTCTTACATCAATACATCATT	noncoding	Benign
8	60862813	A	ACAAT	T60862816A	CHD7	NM_017780.4(CHD7):c.8076+163_8076+164insATCA	noncoding	Benign
8	60862814	C	CATCA	T60862819A	CHD7	NM_017780.4(CHD7):c.8076+163_8076+166dup	noncoding	Benign
8	60865297	AG	A	G60865299C	CHD7	NM_017780.4(CHD7):c.8360del:p.Gly2787fs	coding	Pathogenic
8	60865392	AC	A	C60865395T	CHD7	NM_017780.4(CHD7):c.8456del:p.Pro2819fs	coding	Pathogenic
8	60865816	G	GGAA	G60865819A	CHD7	NM_017780.4(CHD7):c.8879_8880insAGA:p.Glu2960dup	coding	Benign
8	61503452	C	CCAT	A61503456C	ASPH	NM_004318.4(ASPH):c.2181_2183dup:p.Trp728Ter	coding	Pathogenic
8	61503510	CT	C	T61503511G	ASPH	NM_004318.4(ASPH):c.2127-2del	coding	Pathogenic/Likely_pathogenic
8	61518107	A	AT	C61518112T	ASPH	NM_004318.4(ASPH):c.1916dup:p.Asn639fs	coding	Pathogenic
8	61563195	T	TA	G61563206A	ASPH	NM_004318.4(ASPH):c.1301-325dup	noncoding	Benign
8	61583862	A	AT	A61583877T	ASPH	NM_004318.4(ASPH):c.1062+68dup	noncoding	Benign
8	61638365	T	TA	C61638379A	ASPH	NM_004318.4(ASPH):c.791-15dup	noncoding	Benign
8	61642845	CA	C	A61642856G	ASPH	NM_004318.4(ASPH):c.790+42del	noncoding	Benign
8	61642845	C	CA	G61642857A	ASPH	NM_004318.4(ASPH):c.790+32dup	noncoding	Benign
8	61642923	G	GA	G61642934A	ASPH	NM_004318.4(ASPH):c.758-13dup	noncoding	Benign/Likely_benign
8	61644636	GA	G	A61644647T	ASPH	NM_004318.4(ASPH):c.620-5del	noncoding	Benign/Likely_benign
8	63061361	AG	A	G63061362A	TTPA	NM_000370.3(TTPA):c.727del:p.Leu243fs	coding	Pathogenic
8	63064216	A	AT	C63064223T	TTPA	NM_000370.3(TTPA):c.652dup:p.Ile218fs	coding	Pathogenic
8	63064327	T	TA	T63064335A	TTPA	NM_000370.3(TTPA):c.553-12dup	noncoding	Benign
8	63066043	A	ATTAGACTTACTCGAAATACGTCATAAGCTGTAAAAACT	G63066084A	TTPA	NM_000370.3(TTPA):c.375_412dup:p.Ile138delinsLysPheLeuGlnLeuMetThrTyrPheGluTer	coding	Pathogenic
8	63066071	CT	C	T63066072G	TTPA	NM_000370.3(TTPA):c.384del:p.Ala129fs	coding	Pathogenic
8	63073002	CT	C	T63073005A	TTPA	NM_000370.3(TTPA):c.290del:p.Lys97fs	coding	Pathogenic
8	63073050	TG	T	G63073052A	TTPA	NM_000370.3(TTPA):c.242del:p.Pro81fs	coding	Pathogenic
8	63073064	TCC	AAT	T63073064A	TTPA	NM_000370.3(TTPA):c.227_229delinsATT:p.Trp76_Arg77delinsTyrTer	coding	Pathogenic/Likely_pathogenic
8	63073073	A	AAT	G63073077T	TTPA	NM_000370.3(TTPA):c.218_219dup:p.Tyr74fs	coding	Pathogenic
8	63085843	T	TC	G63085847C	TTPA	NM_000370.3(TTPA):c.178dup:p.Asp60fs	coding	Pathogenic
8	63085930	A	AGCGCCGCC	A63085939G	TTPA	NM_000370.3(TTPA):c.84_91dup:p.Leu31fs	coding	Pathogenic
8	63086294	CA	C	A63086297C	TTPA	Single_allele	noncoding	Benign
8	63086355	CT	C	T63086366C	TTPA	Single_allele	noncoding	Benign
8	64596847	AGGTAA	TTCT	A64596847T	CYP7B1	NM_004820.5(CYP7B1):c.1311_1316delinsAGAA:p.Cys437_Leu439delinsTer	coding	Pathogenic
8	64597016	TCTTAAAAAGCTC	T	A64597020T	CYP7B1	NM_004820.5(CYP7B1):c.1234-99_1234-88del	noncoding	Benign
8	64615519	C	CA	T64615534A	CYP7B1	NM_004820.5(CYP7B1):c.850+158dup	noncoding	Benign
8	64615734	AT	A	T64615735C	CYP7B1	NM_004820.5(CYP7B1):c.806del:p.Asp269fs	coding	Pathogenic
8	64616119	C	CA	G64616121A	CYP7B1	NM_004820.5(CYP7B1):c.421dup:p.Cys141fs	coding	Pathogenic
8	64616226	A	AT	A64616233T	CYP7B1	NM_004820.5(CYP7B1):c.314dup:p.Asn105fs	coding	Pathogenic/Likely_pathogenic
8	64616285	GA	G	A64616296G	CYP7B1	NM_004820.5(CYP7B1):c.260-5del	noncoding	Benign
8	64798520	GC	G	C64798522A	CYP7B1	NM_004820.5(CYP7B1):c.67del:p.Ala23fs	coding	Pathogenic
8	67064700	T	TG	T67064705G	CSPP1	NM_001382391.1(CSPP1):c.-11+166dup	noncoding	Benign
8	67074229	A	AT	A67074239T	CSPP1	NM_001382391.1(CSPP1):c.-10-5dup	noncoding	Benign/Likely_benign
8	67076513	G	GT	A67076515T	CSPP1	NM_001382391.1(CSPP1):c.132dup:p.Lys45Ter	coding	Pathogenic
8	67085994	G	GT	C67086003T	CSPP1	NM_001382391.1(CSPP1):c.200-5dup	noncoding	Benign
8	67086067	TAAAAG	T	A67086070G	CSPP1	NM_001382391.1(CSPP1):c.263_267del:p.Lys88fs	coding	Pathogenic
8	67093574	ACAAT	A	A67093577G	CSPP1	NM_001382391.1(CSPP1):c.419_422del:p.Asn140fs	coding	Pathogenic
8	67105884	TC	T	C67105885T	CSPP1	NM_001382391.1(CSPP1):c.1023-20del	noncoding	Benign
8	67105891	C	CT	C67105899T	CSPP1	NM_001382391.1(CSPP1):c.1023-7dup	noncoding	Benign/Likely_benign
8	67111815	TGAA	T	A67111820G	CSPP1	NM_001382391.1(CSPP1):c.1094-152_1094-150del	noncoding	Benign
8	67112234	GT	G	T67112252G	CSPP1	NM_001382391.1(CSPP1):c.1187+187del	noncoding	Benign
8	67115894	A	AT	C67115903T	CSPP1	NM_001382391.1(CSPP1):c.1288-12dup	noncoding	Benign
8	67118254	AC	A	C67118256T	CSPP1	NM_001382391.1(CSPP1):c.1505del:p.Pro502fs	coding	Pathogenic
8	67118290	TACTA	T	A67118295T	CSPP1	NM_001382391.1(CSPP1):c.1544_1547del:p.Asn515fs	coding	Pathogenic
8	67132037	CCAAA	C	A67132040G	CSPP1	NM_001382391.1(CSPP1):c.1787_1790del:p.Lys596fs	coding	Pathogenic
8	67132067	CT	C	T67132070G	CSPP1	NM_001382391.1(CSPP1):c.1817del:p.Leu606fs	coding	Pathogenic/Likely_pathogenic
8	67149947	CTT	C	T67149970A	CSPP1	NM_001382391.1(CSPP1):c.2128+35_2128+36del	noncoding	Benign
8	67149947	CTTT	C	T67149969A	CSPP1	NM_001382391.1(CSPP1):c.2128+34_2128+36del	noncoding	Benign
8	67149947	CTTTTTTTTTTTT	C	T67149960A	CSPP1	NM_001382391.1(CSPP1):c.2128+25_2128+36del	noncoding	Benign
8	67158489	CTG	C	T67158490A	CSPP1	NM_001382391.1(CSPP1):c.2285_2286del:p.Leu762fs	coding	Pathogenic
8	67158977	TTTTTA	T	T67158983A	CSPP1	NM_001382391.1(CSPP1):c.2392-8_2392-4del	noncoding	Benign/Likely_benign
8	67159116	TTTGA	T	A67159120G	CSPP1	NM_001382391.1(CSPP1):c.2521_2524del:p.Ile841fs	coding	Pathogenic
8	67161802	AT	A	T67161807C	CSPP1	NM_001382391.1(CSPP1):c.2539-4del	noncoding	Benign
8	67172154	A	AT	G67172177T	CSPP1	NM_001382391.1(CSPP1):c.2829-240dup	noncoding	Benign
8	67180023	TAAA	T	A67180034G	CSPP1	NM_001382391.1(CSPP1):c.3220+108_3220+110del	noncoding	Benign
8	67180023	T	TA	G67180037A	CSPP1	NM_001382391.1(CSPP1):c.3220+110dup	noncoding	Benign
8	67193495	GTCTC	G	C67193501A	CSPP1	NM_001382391.1(CSPP1):c.3368_3371del:p.Leu1122_Ser1123insTer	coding	Pathogenic
8	67193537	TTA	T	T67193538G	CSPP1	NM_001382391.1(CSPP1):c.3405_3406del:p.Arg1136fs	coding	Pathogenic
8	67193537	T	TTATA	G67193540T	CSPP1	NM_001382391.1(CSPP1):c.3406_3407insTATA:p.Arg1136delinsIleTer	coding	Pathogenic
8	67211624	TA	T	A67211634T	ARFGEF1	NM_006421.5(ARFGEF1):c.4687-10del	noncoding	Benign
8	67240216	A	AAG	G67240223A	ARFGEF1	NM_006421.5(ARFGEF1):c.2923_2924dup:p.Cys976fs	coding	Pathogenic
8	67259891	AG	A	G67259893T	ARFGEF1	NM_006421.5(ARFGEF1):c.2158del:p.Leu720fs	coding	Pathogenic
8	67287975	AT	A	T67287978C	ARFGEF1	NM_006421.5(ARFGEF1):c.1006del:p.Met336fs	coding	Pathogenic
8	69601038	AT	A	T69601040G	SULF1	NM_001128205.2(SULF1):c.885+287del	noncoding	Benign
8	69628244	ACT	A	C69628249G	SULF1	NM_001128205.2(SULF1):c.2108+9CT[2]	noncoding	Benign
8	69629549	GAAC	G	A69629553C	SULF1	NM_001128205.2(SULF1):c.2155AAC[1]:p.Asn720del	coding	Benign
8	71211209	CT	C	T71211213C	EYA1	NM_000503.6(EYA1):c.1644del:p.Val549fs	coding	Pathogenic
8	71211233	TTC	T	T71211238A	EYA1	NM_000503.6(EYA1):c.1619_1620del:p.Arg540fs	coding	Pathogenic
8	71215484	TACTA	T	C71215486A	EYA1	NM_000503.6(EYA1):c.1496_1499del:p.Ile498_Leu499insTer	coding	Pathogenic
8	71215495	TCA	T	C71215500G	EYA1	NM_000503.6(EYA1):c.1487_1488del:p.Val496fs	coding	Pathogenic
8	71215663	CG	C	G71215665T	EYA1	NM_000503.6(EYA1):c.1425del:p.Asp476fs	coding	Pathogenic
8	71216388	G	GGCTAATTCTTCGAAGGAT	C71216413T	EYA1	NM_000503.6(EYA1):c.1360+286_1360+303dup	noncoding	Benign
8	71216702	A	GG	A71216702G	EYA1	NM_000503.6(EYA1):c.1350delinsCC:p.Asn451fs	coding	Pathogenic
8	71216725	CTT	C	T71216728A	EYA1	NM_000503.6(EYA1):c.1325_1326del:p.Lys442fs	coding	Pathogenic
8	71216736	CT	C	T71216737G	EYA1	NM_000503.6(EYA1):c.1315del:p.Arg439fs	coding	Pathogenic
8	71216779	G	GT	A71216781T	EYA1	NM_000503.6(EYA1):c.1272dup:p.Arg425fs	coding	Pathogenic
8	71216815	C	CT	G71216817T	EYA1	NM_000503.6(EYA1):c.1236dup:p.Ala413fs	coding	Pathogenic
8	71216981	T	TA	T71216983A	EYA1	NM_000503.6(EYA1):c.1182dup:p.Asn395Ter	coding	Pathogenic
8	71269816	A	AAC	T71269821A	EYA1	NM_000503.6(EYA1):c.972_973dup:p.Phe325fs	coding	Pathogenic
8	71271521	TAGAG	T	G71271525A	EYA1	NM_000503.6(EYA1):c.966+233_966+236del	noncoding	Benign
8	71271794	GT	G	T71271797C	EYA1	NM_000503.6(EYA1):c.929del:p.Asn310fs	coding	Pathogenic
8	71299090	CG	C	G71299092T	EYA1	NM_000503.6(EYA1):c.782del:p.Pro261fs	coding	Pathogenic
8	71299719	AC	A	C71299721T	EYA1	NM_000503.5(EYA1):c.557del	coding	Pathogenic
8	71317617	A	AG	A71317619G	EYA1	NM_000503.6(EYA1):c.490dup:p.Leu164fs	coding	Pathogenic
8	71317618	G	GA	T71317622A	EYA1	NM_000503.6(EYA1):c.489dup:p.Leu164fs	coding	Pathogenic
8	71321746	TGCCGTACG	T	C71321749T	EYA1	NM_000503.6(EYA1):c.398_405del:p.Pro133fs	coding	Pathogenic
8	73009299	G	GGAGGTCGGGAGA	G73009304T	TERF1	NM_017489.3(TERF1):c.319+98_319+99insTCGGGAGAGAGG	noncoding	Benign
8	73976049	A	AGGCGGCAGGCGGGCGGCAGGCG	A73976135G	TMEM70	Single_allele	noncoding	Benign
8	73976049	AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	A	G73976080A	TMEM70	Single_allele	noncoding	Benign
8	73976378	C	CG	C73976382G	TMEM70	NM_017866.6(TMEM70):c.100dup:p.Ala34fs	coding	Pathogenic
8	73976476	TC	T	C73976478G	TMEM70	NM_017866.6(TMEM70):c.197del:p.Pro66fs	coding	Pathogenic
8	73978692	C	CA	C73978704A	TMEM70	NM_017866.6(TMEM70):c.211-53dup	noncoding	Benign
8	73981204	GC	G	C73981206A	TMEM70	NM_017866.6(TMEM70):c.368del:p.Pro123fs	coding	Pathogenic
8	74350205	T	TAAAA	C74350217A	GDAP1	Single_allele	noncoding	Benign
8	74350205	T	TAAA	C74350217A	GDAP1	Single_allele	noncoding	Benign
8	74350205	T	TA	C74350217A	GDAP1	Single_allele	noncoding	Benign
8	74350371	CCT	C	T74350373A	GDAP1	NC_000008.10:g.75262607_75262608delCT	noncoding	Benign
8	74350409	GGGA	G	G74350411A	GDAP1	NM_018972.4(GDAP1):c.-51_-49del	noncoding	Benign/Likely_benign
8	74350483	CAG	C	A74350488G	GDAP1	NM_018972.4(GDAP1):c.27_28del:p.Gly10fs	coding	Pathogenic
8	74351330	GCC	TGTG	G74351330T	GDAP1	NM_018972.4(GDAP1):c.174_176delinsTGTG:p.Pro59fs	coding	Pathogenic
8	74351387	GCCTGT	G	G74351391T	GDAP1	NM_018972.4(GDAP1):c.235_239del:p.Val79fs	coding	Pathogenic
8	74351402	CG	C	G74351406A	GDAP1	NM_018972.4(GDAP1):c.250del:p.Glu84fs	coding	Pathogenic
8	74359984	TTGAA	T	A74359991T	GDAP1	NM_018972.4(GDAP1):c.311-146_311-143del	noncoding	Benign
8	74360184	CG	C	G74360187T	GDAP1	NM_018972.4(GDAP1):c.361del:p.Val121fs	coding	Pathogenic
8	74361932	AC	A	C74361935A	GDAP1	NM_018972.4(GDAP1):c.536del:p.Pro179fs	coding	Pathogenic
8	74361955	AT	A	T74361957G	GDAP1	NM_018972.4(GDAP1):c.558del:p.Ile186fs	coding	Pathogenic
8	74362771	G	GCT	T74362786C	GDAP1	NM_018972.4(GDAP1):c.580-167CT[8]	noncoding	Benign
8	74365855	CA	C	A74365856T	GDAP1	NM_018972.4(GDAP1):c.*1489del	noncoding	Benign/Likely_benign
8	76707921	AGT	A	G76707924A	ZFHX4	NM_024721.5(ZFHX4):c.2969_2970del:p.Cys990fs	coding	Pathogenic
8	76983560	GA	G	A76983565T	PEX2	NM_000318.3(PEX2):c.618del:p.Leu207fs	coding	Pathogenic
8	76983607	AT	A	T76983608G	PEX2	NM_000318.3(PEX2):c.571del:p.Tyr190_Met191insTer	coding	Pathogenic
8	76983628	C	CG	A76983629G	PEX2	NM_000318.3(PEX2):c.550_551insC:p.Cys184fs	coding	Pathogenic
8	76983654	AG	A	G76983655A	PEX2	NM_000318.3(PEX2):c.524del:p.Ser175fs	coding	Pathogenic
8	76983723	A	AC	A76983724C	PEX2	NM_000318.3(PEX2):c.455_456insG:p.Ile152fs	coding	Pathogenic
8	76983761	TCA	T	A76983767T	PEX2	NM_000318.3(PEX2):c.416_417del:p.Val139fs	coding	Pathogenic
8	76983782	C	CAAATGATGCT	G76983801C	PEX2	NM_000318.3(PEX2):c.387_396dup:p.Gly133fs	coding	Pathogenic
8	76983958	G	GC	A76983960C	PEX2	NM_000318.3(PEX2):c.220dup:p.Ala74fs	coding	Pathogenic
8	76984032	TA	T	A76984034C	PEX2	NM_000318.3(PEX2):c.146del:p.Leu48_Leu49insTer	coding	Pathogenic/Likely_pathogenic
8	76984040	C	CT	A76984041T	PEX2	NM_000318.3(PEX2):c.138_139insA:p.Gly47fs	coding	Pathogenic
8	76984098	CTT	C	T76984099G	PEX2	NM_000318.3(PEX2):c.79_80del:p.Lys27fs	coding	Pathogenic
8	76984153	TTC	T	T76984154G	PEX2	NM_000318.3(PEX2):c.24_25del:p.Lys9fs	coding	Pathogenic
8	79766065	C	CA	T79766072A	HEY1	NM_012258.4(HEY1):c.332-300dup	noncoding	Benign
8	79766258	AGGCATGT	A	T79766263G	HEY1	NM_012258.4(HEY1):c.331+386_331+392del	coding	Benign
8	79766297	CA	C	A79766302T	HEY1	NM_012258.4(HEY1):c.331+353del	coding	Benign
8	80486812	TGTC	T	C80486815T	ZBTB10	NM_001105539.3(ZBTB10):c.5_7del:p.Ser2del	coding	Benign
8	85110101	CT	C	T85110112A	LRRCC1	NM_033402.5(LRRCC1):c.311-3del	noncoding	Benign
8	85463769	A	AGGAGCCCC	C85463803G	CA2	Single_allele	noncoding	Benign
8	85473822	C	CT	C85473833T	CA2	NM_000067.3(CA2):c.351+21dup	noncoding	Benign
8	85477231	AC	A	C85477233T	CA2	NM_000067.3(CA2):c.621del:p.Trp208fs	coding	Pathogenic
8	85477544	C	CT	G85477558T	CA2	NM_000067.3(CA2):c.663+282dup	noncoding	Benign
8	85477544	CT	C	T85477557G	CA2	NM_000067.3(CA2):c.663+282del	noncoding	Benign
8	85480684	TA	T	A85480687C	CA2	NM_000067.3(CA2):c.681del:p.Lys227fs	coding	Pathogenic/Likely_pathogenic
8	86099139	G	GA	T86099153A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.130+44dup	noncoding	Benign
8	86114139	TA	T	A86114150G	ATP6V0D2	NM_152565.1(ATP6V0D2):c.302+270del	noncoding	Benign
8	86143045	AT	A	T86143054A	ATP6V0D2	NM_152565.1(ATP6V0D2):c.639+100del	noncoding	Benign
8	86151220	G	GT	A86151222T	ATP6V0D2	NM_152565.1(ATP6V0D2):c.817-245dup	noncoding	Benign
8	86153183	CAT	C	A86153184G	ATP6V0D2	NM_152565.1(ATP6V0D2):c.*207_*208del	noncoding	Benign
8	86214405	TCCGACATC	T	C86214406T	SLC7A13	NM_138817.3(SLC7A13):c.1413_*7del:p.Glu470_Ter471insTer	noncoding	Benign
8	86223076	ATTG	A	G86223082C	SLC7A13	NM_138817.3(SLC7A13):c.707CAA[1]:p.Thr237del	coding	Benign
8	86576128	CT	C	T86576130C	CNGB3	NM_019098.5(CNGB3):c.2105del:p.Lys702fs	coding	Pathogenic
8	86579125	TC	T	C86579127T	CNGB3	NM_019098.5(CNGB3):c.1908del:p.Ile637fs	coding	Pathogenic/Likely_pathogenic
8	86598576	TCCAAAATCAAAATATCAGCAGGGCTGTGTTTCCTCTAAAGACTCCAGTGAAAAATCTTTTCTTGCCTCTTCCAGCTTCTAGTGCTGCCAGGCATTTCTTGGCTATGGCTGCAATACTTCAGTTTCTACCCTCAGTCTTCACATGGTCTTCTCCTCTTATGTCTTTTATAAAGACACTTATAAAAAGTGTCCTTAGGAAAAAGAACCCTCTTTGTCATTGGACTTGGGGCCCTTCAAGATAATTCAGGATGATCTCATCTTGAGATCCTTAACTTAATTACATCTGCAAAGACCCTGACCCTTTTTTTCAAGTTAGGTCACATACACAAGTTCCTAGGATTAGGATGTGGACTTATCTTTGTGGGAGACACCATTCAACCCACTACAGGCATCACGTCAATTATCCTTTACATACCCCTCAGTAGGGGTTTATAGGACTGACCTGTGTGCACACATCATTTGAGGACCAGTGAAGGTTTGTTGCAGGAAGTCAGGGACGCCAAACGGAGGGACCGGCTGAAGCCATGGCAGAAGAACGTGGATTGTGAAGATTTCATGGACATTTATTAGTTCCCCAAATTAATACTTTTATAATTTCTTATGCCTGTCTCTACTGCAGTCTCTGAAAATAAATTGTGAAGATTTCATGGACACTTATCACTTCCCCAATCAATACCCTTGTGATTTCCTATGCTTGTCTTTACTTTAATCTCTTAATCTCATCATCTTCGTAAACTGAGGAGGATGTATGTTGCCTCAGGACCCTGGGATGATTGCGTTAACTGCACAAATTGTTGTAGAGCTTGTGTGTTTGAACAATATGAAATCTGGACACCTTGAAAAAAGAACAGGATAACAGCAATGTTCAGGGAACAAGAGAGATAACCTTAAACTCTGACTGCCAGTGGGCCGGGTGGAACAGAGCCATATTTCTCTTCTTTCAAAAGCAAATGGGAGAAATATTGATGAGTTCTTTTTCTCAGCAAGGAACATCCCTGAGAAAGAGAATGTGTCCCTGAGGGTAGGCCTTTAAAATGGCCACCTTGGGGGCGGCTGTCTTTTACGGTCGCAGCTGTAGGGTTGAAATAAGCCCCAGTCTCCTATAGCACTCCCAGGCTTATTAGGACGAGAAAATTCCCACCTAATAAATTTTGGTCAGACCGGTTGTCTGCTCTCAAACCCTGTCTCCTGATAAGATGTTATCAATGACCATGCGTGCCTGAAACTTCATTAGCAATTTTAATTTCACCCCAGTCCTGTGGTCCTGTGATCTTGCCCTGCCTCCATTTGGCTTGTGATATTCTATTACCTTGTGAAGCATGTGATCTCTGTGACCCACACCCTGTTCATACACTCCCTCCCCTTTTGAAAATGACTAATAAAAACTTGCTGGTTTTGTGGCTTGTGGGACATCACGGAACCTGGTGACATGTGATGTCTCCCCTGGACACCCAACTTTAAAATTTCTCTCTCTTGTACTCTGTTCCTTTATTTCTCAGACCAGCCAACACTTAGGGAAAATAGAAAAGAACCTACATGAAATATCGGGGGTGGATTTTGCCCGATAAACGTTCAGCTTTTGGTTCCCAAATAACCTCTAGTAATTGCCAGATCCAAAGGATGCACTGGTCCTTGTGAAAACTTTGTCCCCAAAGCATCCTGTACACACTCTCTTCCTGGGACACAATTCATACATTTAATCACCTGGTATTGAAGTCTCTTCTAAGGCCCTGGAGGACAGTGATTGTTTCTTGTTCTCCTTTGTACCCTCATGACTGGCACTGTGCCTGGCAAAGAAGGAATACATGGCCTTCTTTGAGTCACTTTCACACTATGCCATAAGGGGACCCAAATATAATTTTCTTTTGTTTCTATCAAATCACAATTAAGTACTTAATTAATTAAAAATTGCTGAAGAGCTGTTGCAAATTATTTTTGAATGGAGGCATGATACAAGTAAAAATCACCACTTAGTATATAGTGTTTACGTAGCTGCTGGTGATATGAAGATGGATAAATTCTAGTTCCTTTTTTTTTTCTTTTTTTTTTTTTGTGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACGCTCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCACAGTGTTAGCTGGGACGGTCTTGATCTCCAGGCCTTGTGATCTACCCGCCTCAGCCTCCCAACGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTCTAGTTCTTACATTTTAGTAGCTCAGTCTGTTGGAGAGACCTGTCTGAACAAATTAATTATAAATCAGTAGTAATTACTGCAATAAATGCATGAATGAAATGCTATGGAAGCATAGAATAAAGAGTAACTAGTTGTTTTAGGGGTTAAAGATGGCTTCAAAAAGGTGGCATTTGAAGGAGGAATGAAAAATTTCCAGGGGAGGATATTCCGAAGAGAGATGAAACCAATAGAAAATCCTATTGAAATCATAATGGCAACACAAGAATAAAAACTCAGATGTGTTTTAAGAAAAATGACATTTTAACAGAAACAGAATGCAGACAGGAAGTGGTTAAATACATTCAGTGAATAAGACTTGGGACTAAATGTACGTGTAAGGAAAATGATGGACCTGGAACCACCACAAGGCCATCTCTCAGCAGACCCTGGGTCTCTCTTTTAGAAATGGGGTATCTGCACTCTTCAGATGATAATTGGAAATGTGGTCTGGGTTTTCTCAATGACAGGCTATTAATCTATATTTTAGTCAGGGTTTTGCTCTTTTGGATTAATATATAATGTCCTTGAAAGCCCTTAATGTTTTTCTTTATTTTTTTTTTTCCTGAGGAAAAAGAACTCTTTTAAAGGCTACATGATAGTGCTGGATTTAGCTCATTTTAACAAAGGTCACAGCATTTTTGAGTAGTAAACACTATTACTAGATCTTTCCAGTATCTGGATGTTTGGCAGGCATACCTCCAGCTCTGGAATAAATGACTAGAGCTTCAGCGGCATATGACAGCTGTGGGCCTGTGAAGCCTGTGGGTATCTGGAAAGAGGCAGATGCATCCTGTTTCCCCATAACCACAGCCAAAAAGAGAATCAAGGCAAAAAGCTCCCTTTTACTTGAATCAACCAAACTACTGAGCAAGTTTAAAGTTTGTCTGTTCTACTGGTTTCAATTTGGCCTTAGAAACCAAATGGGTAATAGGAGATTTATTTGAGAAGCTGCTGTCAGGAATCTAGGATTACTTTCAGTTGCAACTCAGAAACACCTGGATTCAATTCTTAGGGTATTTCCTCCTGTGATGATAATATCAGCAATTAACATACTTGTATTTATAAAGCTTATTCTTCAGGGAGTACTCAACCCTTGGGAAAGGTCAGCTAATTAATTTCTGCAGTGTTTCAGATTAAACTGTTGCATGTTTTATGACCTTGAAGATTACAGTGATTATTAAGTCACAAAATATTAAATCACTTTTGCAAGGACTCCCAGGAAGGAAATGATAGAAAACAGGCAAAGAACTCAGGTCTCGTATGTTCTGAGAAGTGTTTCCACCACTGCCCAAGAGCAAGATCCTCAGAGGATCACCTTAACAAATAATCAGTCGTTAAACAAGGAGAAAAAAATTAAAAAGAGAAGCCACATTAACAACAGAGAAATAACATGTTTCAACATTCCAAAGAAACCCTAACAATGCTAATATGAAGTCATCTAAAATTATCCATATTTCCAGAACACAAAGATAACTTCTTAGCAGCTAGGAAATTAGAGACTGGAAATTTCTTCTGTGACGTGGTATAAAGATCACTGGACCCCGATCCGTGGAGACCCAGGTTTGAATGTTGTCCCTATAATTCATTAGCAATGGTGTCCTGGGAAAGATATAGTACTTGGCATCTTGGGATAGCAATTTTCTCAGTTATGAAATGAATATATTAATAACTGCCTGACAGGGTACTCTTCTATTCATCATATGAGCCAGTATCTCAGTTCCAGACACCATCATCTTTCACTTGAGCCACCACAGTTGACTTCTAACTGGACTCTATTCATTCTTGCTCCTCTACTGTATCTTTTCCACATAGCTGTTGAAGTCGTCTTTTAAAATAATAATTCAGAGTGTGTCATTCTTTTGCCTAAAACCCTCTACTGGCATTCATTCATATTTAGAAAAAGACATAAATTCCTATCATGGCGTAAAAGACCATGTTATCTGGGTCTTGCTCACCTATTTGGCTTCATCTCCCCAGTGTTCTTATTCACTGTACTCCAGCCATATTGACCTTTCTACCCCTTGACCAGACAAACTTGCTTTACCTCTAGCCCTTTGGTAATCAGGCTCTTCACCCAATTCTGAATGGCTGATCCTTTTCTCTTTCAAATCTCAGGTCAAATATTATCTCCCTAGAGAGGTCATTCCTGACCACTGCATCTAAGTTGTGTCCTGTTACTTTCTAACCACTTTTTCCTTCATAGTAGTTATTACAGTGTGAATTCATCTTGTCTAGCTAATTAACTATTTATTATCAGTTTTCCCTGACTGGACTATAAACTCTGTTAGGGGCCATATCTTGTCTAATATTTTTATATAGTTTATTCCTAGAGTTAAGAGCAATACCTGACAATCTAGCACGTACCAGGCACTCCATAAATATTTTTTGGTTGAATAATGAATAAATGTGATAATGCATATAGAAGTGTTTAGCTCACAAAATGCTTAAATTTGCTGTCTATATTTTTCCTCTTGGGGAGTTTCTTGTTCTAGGATAAACTTTTCCTGGCCAATAAGAAGCAATGGTAAAAATAATTGATATTTATTGAGTTGTTAATAGATGCCAGGCAGTGTTCTAAGTGCTTTTAGTGAATTAACTCATTTACCAACACTTTAAGATATGTTCTATTATTATCCTAATTATTAAGGTGAGGAAACTGAGGAACAGTGGGGACAAGTAACAGAGGAAAAAAGCCAGTAGTGGTGAAACTGGAGTTTAAACTCAGGAAATTTGGTCCCACAGCTATGATCACATCACTAGCCTACGCAAGACCCCCTTGTTAGCAAGGCTTTCAAGTTTTCCAACAATCTGGTAACAATGAACCCTCCAAACCTCTTCTCTCATTTACTAATTCATTTGCACATCCATTCAACATATACTGGGAACCTGCTTTACGCCAGGCACTGCTCTAGGTCCTGGACTAAAGAGCTGAATGACCCAGTTCTTTTCCTTAGGTCGCTTTGGTGAAGGGATGAATAAAAATATGAAAATCCTTATTTTACGAATGCTCTCAGCACAATCAAACCTTTGATAAATCTGAGCGGGAACTTATTTTACTACCTAAGACTTTTCTTTTATGACAAATGATGGACTTCAATATTTATGAAGTATCTTTCAGATACCTGATTTCTCCAAACACCGACCCAGCTTTCAGAGTAACCAGAACTTTAGTACCATCAGGGCCTCCAAGAACTTGGACTTCTCCATGCTTGATGATATACATTTCCTTGCCAATTTCTCCCTACATTTTAAATATAAAGAGGAAATGGTAGTTACTTTATTCTTGATAATTATGCTGTAAATTAAGAAATATAAATTCTTTTAGAGGAGTAAATATAAATGAAGGAAGCAAAGAACATTAGTGTAAAATTAATTATCTTAAGACCTAAAGTATTTACAGACATGGGTTGAACATATCATGTGAAAGAAAATGATTAGGAAGATGATACTTCTCAACACGTGAGTACTGTTTGCCTCCCTTGGATACATGAAGATATTTCAGTTAGCACATTGCTTTAGGAAGGACCCTGGGTAGAGGAAGTAATTGATTTTAAGCATGGTCGAACCTGGCTTTGATGACCACCACTATGCTTGGAAGAAGTTGCTTGGTCTAGCCAAAGAGCATAGACTGCAGCCTTTCAAAGGTCAATTCTATTCATCTACCCATGGCATTGAGGTCTGATTTGGGGAATTGGGGCATAGGAGATCTTTGAGTTATTATTAGTATTCCATACTGAGATAAAGTATTAATGCAGCAGGTTGTTTTACTCAGTTCTTGCCTATCTTTGGGGACTCTTGGGACCAGGGCAATGATCTTTGTTCAAGCCCTAAGAATTAAACTCCTGGAATGTTCACATAGCCACTGGTTAATGGTGTTATTCTATATTCCTGAGCCAGTATAGCAGGATGTATCAGGCTGTCAACACTATTTAATATAATCACAAAGATTTATGATGTGTACCTTGTACATAGTTTGAAAGTCTGAATCATGTCTGGTCATGCAGCTATATGCGCCATTTAAGAACATTGGACCCAAGACTAATATGAGCTTCCACCGGTGGAGATATTTTGCTCATGTTTCTGTGGTCCACTGGAGAGAAAAATGCATCCATGTGACCCTCATAGAAATAGGACCTAGTAAGCCTGTGTCTGATTTCTCTCGTGTTTGCCCATGTATATCTTTTTCTTGCTATTCTTGCATTTTATCCTTTGCTATAATAAATCTTAAGCCATAAATATAACTTTATGTTGAATTATATGAGTTCTTACAAGTAAATCACCAAACTAGTGGGTGGTTATGAGGCCCTTGGAACACATCTTCTCTAACTTCCAAAAAGAATAGATGTCTTACAAGAGACCTAAATGGCACTTAGGTCAAGAAAGGCTGTTAAACTCTAAATAGGCCAGATTGCATAACACTAGGCAAACTATTTGGCTAGTAGTACCTACATGTCTGAATGAGCAGTGCCTTGATCACCTTGAGCTATAAAAAAAAATAGCATTAATACAATAAATTCACTTACTTGGCTTAGGAGGGGACTGGGTTATTTGAGTTAATCAAATATTCTCATTAACCATACTTTGAAAGAATTAGAATACACTAAAATCAACTCGAGATTAAAAGATTTATTTTTTATTTTTAAAAATATTTAGCCTACATCATTCTTTGGAAGAAAAAAATATTGATTGTAGTTTACTCTCTGAGATGGCTGAGAGAATGTCTACTTTGTTGCAGTGCTGAACGCAGGCTTGACATATAGGAAACACTCATTTATGAATGAGGAAAATATAACTTAACTATTCTCTGGGAGATTCTAAAGTCTTTCCTTACACCTAGGTTTATTTTCCTGAACATCAACTATTGTTGCTTTATAATTGCTGGGTTGTGTTTAAAGTTATCAGACTCCACCTTTTAGTTAACATCCAGGAAGCTGAAATTCTTATTTTATCTCCCCATTACTCTTATAAGGAAGGTAGAGTAAGTACTATTATTTCCTTTTTACAAAAATTAAAACAAAGGCACAGATTGGCTTAGCCAATTAGCTAAAGTTATATGACTCGGTAATTAGAAGCGAAGGAAGCCTAGAACCCACATCTCCTAACTGAGCAATGCAAGAAATACGTTTAAGTTTTGCATTGTGTAAAATACATTTTTAAATTAAAATTTTGGGGTTGGTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTCCCCAGGCTAGAGTGCAGTGGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATAAGCCACCATGCCTGGCTAATTTTTGTATTTATTGTAGAGACAGGGTTTTGCCATGTTGTCCAGGCTTGTCTTGAACTCCTGGACTTATGTGATCCTGCCACCTTGGCCTCCCAAAGTGTTGGAATTACAGTCGTGAGCCACTGCACCTGGCCTGTGCAAAATATTAAGCATATATTTATACTCAAAAACAGATAAAAGTAGAAATTCCAATATAGATGGATCTTATATTTATTTACATACTATTAATGCTAATAACAATATCATGTCTTTGCATATTACTTTAAAAAATCATTACATTATCTGACATTTACATAGCTCCTTATTTTAATTCCTATATTTGTTCTAGCAGAACATGCTACTTTATAGCTGTAAAGCATCTCATAGATATTAATTCATCTAATTCTTGCAAAAATCCGAGTGAAGTCAAGTAGGAAACGTATCATTACTCTTATTTAACAATTGGCAGTCGAGGTTTAAAAAATTAAGTGTCTTGAGCAAACTTATAAGGCTCGCAGGTGACAGCGCCAGAACTAGCAGCACCTATGTCATCTGACTCTATATAATACATGAAGA	T	C86598578A	CNGB3	NM_019098.5(CNGB3):c.1663-2660_1781+5516del	noncoding	Pathogenic
8	86604135	AC	A	C86604136T	CNGB3	NM_019098.5(CNGB3):c.1738del:p.Val580fs	coding	Pathogenic
8	86611649	T	TAA	T86611653A	CNGB3	NM_019098.5(CNGB3):c.1599_1600dup:p.Tyr534fs	coding	Pathogenic
8	86611672	CT	C	T86611673A	CNGB3	NM_019098.5(CNGB3):c.1579-2del	coding	Pathogenic
8	86628967	GC	G	C86628968T	CNGB3	NM_019098.5(CNGB3):c.1431del:p.Lys477fs	coding	Pathogenic
8	86629027	AGG	A	G86629028C	CNGB3	NM_019098.5(CNGB3):c.1370_1371del:p.Ala457fs	coding	Pathogenic
8	86629032	CG	C	G86629034A	CNGB3	NM_019098.5(CNGB3):c.1366del:p.Arg456fs	coding	Pathogenic/Likely_pathogenic
8	86632821	TA	T	A86632824G	CNGB3	NM_019098.5(CNGB3):c.1250del:p.Leu417fs	coding	Pathogenic
8	86652312	T	TGACTGAAGGCCTAGGACATTACTGTACACTACTGTAGACTTTATAAACACTGTAGAGTTAGGCTACACTAAATTTATTTAACAATTTTTTCTTTAATAATAAAGTAAACCTAGCTCACTGTAACTATTTTACTTTATAAGCTTTTGAATTTTTAAAAACTTTTTTACTCTTTTGTAATAACACTTAGCTTAAAACACTCATTGTGCAGCTATACAAAAGTATTTTCATTATATATGTATTATATAAGCTTTTTTCTATTTTAAAATGTTTTTATTTTTACTTTTAAGCTTTTTTGTTAAAAACCAAGACACAAGCACACAAATTAGCCTAGGCTTACACAGGGTCAGGATCATCAATATCACTGTCTTCCACATCCACATCTTGCCCCACTGGAAGGTCTTCAGGCTCCATAACATGGGTGGAGCTGTCATTTCCTATAATAACAATGCCTTCTTCTGGAATGCCTCCTGAAAGATTTGCCTGAGGCTGTTTTACAATTAACTTTTAAAAAAATTCATAGGAGTACATTCCGAAATAACAATAAAGAGTACAGGATAGTAAATACATAAGCTAGTAATATAGTTGTTTATTGCCATTATCCCCAATATTATGTACCATACATATTAGTATGTACTATACTTTTATATGACTGGCAGCCCAGTAGGTTTGTTTACACCAGCATCACTGCAAACAGGTGAATAACACATTGCACTGTAATGTTATGATGGCTGTGATGTCACTAGGCAATAGGGATTTTTCGGCTCCCTTATAATCTTATGGGACCATCACCATATATGTGGTCTGTCATTGACTGAAATGCCATTATGCTAACACATATTAAATATATAAATTAATTTAGTCCTTATTCAAACTCAGGAAAGTAAGAGTTTGGAATAAGCTTTATGGCATTACAAAAGTATTTATCCTCTTTGTAGAATTCATCAAAGCAGCATAGAGATCTTTTATGAATATGCCTAAGTATGTGGCAATATTTAATAAAGAAAATTAGTCGGAGATTAAAAAAAAAACAATTGAAAGGGATGTAATCATTGTAGATTTCCAACAAGGATAGTCTGAGACCTAAACCCAGATTTGTATTTTTAAACAAACTCTGAGGCCACTAAAGAATTGTCTTTGAAGTGAGAGGCTAGAGTTCACTCCAATTGGGTAAACCTAAATAACCCCTGACCTCTGCCTATTTCTCAGAGAACAAAGTACTTAGAAAATAATTATGGGCAATAAAACGTTATGTTTTAGGAAAGGAACGTTCCATGTTATCTAAACAATTGCTTCTCTTCTATTAATAATTTTTATTTTGAATATATGAGAACAAGAAAGAAGCGGGAGTAAAAACAATTTTGCAAACCTTTACAACATCATGCTACATTAATTGGGGGCTAGAATTTTGTAGACAAGACAAAGTATACAACCCATATTCCTTTACTGATGTGTAAATTAGAATTCAAATCTGGGCACTAACTTATTTTGGTCTGCTTAATAAGGGCTTATATGTTGAATTACCCACTTGCACATACAAGGAAACATATCAGGTAATTATTGAGAGGCAGAAACTTCAGGCTTATCATTGTCTAATAAAACTTCGTATGTACAAACTTTGTTTATAGAAATCTATAGATGGGATTTAAAGTCAAAATGGTAATAGATCACGTGAGCAACTTTGAAATTGTTTGTCACCTACCTGAAATTTTGTAGAAGTCCTGTAGTGTTTCCTTAGCTCATTTGAATCCACCTGAAAGATATTTGTATTTTCATTAATTTTAGCCAATTTCATCAATTATTTTTTTCTCACTTTTAAATTTATAACTGTTTCTCTTGGTTGGTTCCTTCCAATCTCAGCCAATAAACATCCTCCATATTCCCAGGTATTAAAACAAAAAATGTTTGGCTTTAGTTTTCTTCTTACTATTGCCCTATTGTTTGCCACAATCAAGCTTCTCAAGAGAGTTGCCTACCTGCTTTACTCTATATCCTTCCCTCACATTCATCCTTAACTCATGGCAATTTGGTGGCAATTTGGCTTCTTCCTGCTTCTCTCATTGCATCAAGGCTAACAGTGCAAAGGTCACCAATGATCTCCTAATGATCATGCCCAGGATATCCTTTATGGCACTTAGCATCCTGTTATGGCATTCATCATGATTTGAAATGACACGTATACTGCTTGGCTCATTTACTTAAAATTAGTCTACTCCATTAAACGGTAATCTATCTGAGGACAGGTTTGATTTTGTTTAGCAACTAAATTTAACTAGTGCCTAGAATATACTAAAAGCCCAATAAATATTTATTAACTGAATGAATAAAGAAATGGAGAGATGAATAAAACCTCTGAAGCATTAAAAATTTTTTGGACAATTTTTTTCCATGAAACTTTTTCTTTTCAAAGAATCTGTAATCCCACTCTTAGTTTACTTATATCTTCACTTCCTACTTTTCAGTTTTCTTGGATTCTTGGGCTAGTCATTTAAAAGTCAACATTCCCCAGGATTTAGCTCTCTTCTCTTTTCTCATCATACTTGCTTCCTGGGAAATCTCACCCACATTTATAGTTTCAGAGATTACCGTGCGGGTTGATGCTACCAAATCTCTACTTCCACTAATATCACTTTCTTGAGCTGTTGATGGGTAAGCAACTGCCCATTGTCCTCTTCACTTAGCAGATCCACTGCACCAAACCTGAATTCATCATCATTCTTCATTCTCCTTGAGCCAAACTGCTGCTCCTCCTGCTTCCGAGTATCCTATGAGCAATCTCATCTACACTGCTTAGTGGTCCTACACTGCACATTCTCCCTCAGCCCTGATACAACCAATAGCCAAGTTCTACTCATTCTTCCTAAAATTTTCTCATGGCCATTCTCTGCTTTCTGGCACTGCTGTCTCTGCCTTTAGTCTTGTTCCCCTTGATCCATTCTACAGTGGCCGCCAGATGATCTCTAAATCAGATCACTTAAAATCCTCATTTATGTCAAATCCTGCAACTCCACATGATTTTAAGGAAAAAAGTGCAAGCACCTTTTCAGGGTATACAAAGCTCTACTTTCTGTTTTCCACTCACTTCCCGGAGCATCCCAGAAACAGAACCCACTCTGTTCAGCATTTCCTCAAATGCGTCAGAGGGATGCCTTTGCCCATGCTGTCCCAGAGCTCAGAACATGTTTTTCTTTTTTTCTTGTGGAGGAAAAAGGTGCAGGTAACTCCAACTCATCCATCAAGATTTGGACTAAGGGTCTTCTCTGTCAGATGGTTTTCTCTGAGCCTTATAGCACCCTGGGCATGCCTTTTCATGACTCACAACATAAAATCCCACCATTTTTCTTTTGTTGGTCTGTCCTAGACATTCTGAGCTATGTAAGACAGTAGGGTCCAATCTTTGTCCTCTATTTCCTCAGTTCCTAACACAGTGTCTAACACACAGTAGGTGTTCAATAAATGTGTGACGAGTGATAGATGACTAGAGTGGCATTTGTTAATATTCAGACCTAAAATAATTAATTTGAATATTGGACTTTTATGTTTCACTTATATGTAGTAAAGGATTTTCTAAGGGCTCTTAATTAGTTGACCAAAGCATTATAACTTGGACACATGGAAGTAGCGTCTTCTAACAATTATCATTCAGGCTGTCTGGAAGTTTTAAACTGCTGCTTGATCAATGTTAAAGATTGGTTAGTCAACTCCCTAGTTACTCCCCACACTACTGACTTTTTTGGCTATAATTTTTACTCATATACATGTACTAAATTTTACAGAAATATATTAGAAAATATATGACATGCTCATTTAATGATTTTTACTGTGAAACAAAATGGCTTACTGAGCCATGGGTAGACATAGATACGGCTTCAAATAAATAGTGTTATAAATCATGTACCACAAGAGTAAAATCAGTCACTTCCCTCAAAGTTTATATGGGACAGCCAGATAGATATCAAGTGCTAGACAGTTAAGTTAAAATACTACCTCCACCCTGCACTCAGGAAGAATGTTCTTAGCATATTTGTCTGTTTACTTTCAAGGTTGTCTATGATTCTATGATTGAATAAATGTAAATGCAACTAAAACTTGCTAGATTAAATGAAATGTGATTTAGTGATTTTAAAATCTATCTTCTTTAGAGCAGTAAATAAACTTGGCATCATTAGCCTTATGAGGATCAGCATGCTTACCGGTAACAATTAGGTACTTATTTTTAAAATGTCACCCCACTTAATTATCTCTCCCTCTTTTAAGCCTCATGATTATACCAGTGACATTTCTTCAGGGGAGGCTTACTTTAGGAAGGATATGCTAATTGCACCTAAATCCTTTTCCAATAGATAGCTTTTGAAGAAGATCTACTCAGGTGTTAGTATATTTACTTAGTATTTACCTCTTCTTTCTGCTCCCACCCCCCCAACCAAAATGGCTAAATCCATTTATTCCAAAAGAAAAAGCAAAATAAACAGAAGTTGCATCACCAGGGCACCATGACCCCATCCTTGCCTCCTTTCTCTGTCCCGTACTATCAATAAAGAAGTTTCCCAGTCCCAAATAATTACTAGAACCTCCTCCCCATGTACCAGCTTCAACCTCCTCTATGTATGATACAGGGGGTGGCCCTACCCTGGAATATACAAAATTTTACACAGATAGAATATGTACACTGGGGAAGGGGAGCCACCCCCAGCAGCCTGTTCTCTTGCCTGGTCTACATTTAGCCCCATTGTCCTGCCTCAGCTGCCTCTCTGAGTAAGAAGATGGGAGCCCCCGTGAAGGAAAAGTTGCTTAGTGAGTCAGGCCATCAGGGAGGCCACCAGGCCTCCTGCAAATAAATCAACCCTATGAGCCTCTGGCTCTTAAATAACAACATAATCATCCAGAAATTAAGGACTCAGCCCTGGCCAAGGTGGCAAAGGGTCTGCACTTGTTTGTCTCCCCCCATCACACAGGGGTCTTACCTTGCTCCTCTAAGGATAATGGGGTGACTGGGAAGGGGTGGTAAGGACCTGGTGGGGATGGAGCCTCTGGCCCCACTTCTCCAAGCTTTGCTGACAGTGGCCGGCTTTTAGATGATGGTGATCTTCACCTCATTTCTTGTCAGCATGATAGAAAAATGGAATGCAGGGGTTGCTGCCCAAGCCTGGGTGCTCCTGGGGGTTCTGCATCTCAGGAAGCAGTTGCATAATCTGCTGTGCAGTGGGATTGTCATGGGGAGAACCCTCCCTGGCCTCTTCTTGTGCAGGCTCCATGCTGTGGGCGAGGCTCATCTTGCAAAGATCACCCTGTTTGTTGGCAGCCCCGAGCTCCTGTGGGAGCTGGGGCACCTGGAGCGGGCTAATCAACAGGGTTCTTGGCAGCTGCCAGGAATTTGCCATGCCACTTGTTGTGGTTGCCCACAAGCCGCAACACCAGCTCCTGCAGCTCCTGCAGCTCCAGCAGCTCCAGCAGCTTCACCTTCATCTCCTCCTTGTCCTGGGCCAGGCTGCTGATGTATTCCTTCTGGTGCCACGTCTTCAGCACTGACCTCTAGCTCTGGTACAGTGTGATGTACTTTCCTGCGGGAGGACAGGGTTCAGACGCTGGGACCCCTCTGACCACCGTGCAGCTCCCCCTGCCATGCCCTGGCCTCCCCCTCACTGATGACGTCTGTCTCTCCAGACAGCTGGATGCAGCGACGTTCCAGTTTTTCCATCTGCTCCTTCAGGTCCACCTTCTCCTGCATGAGCTCCATAAAGTGGCTCTGCAGCTTCTCCATGGCCCCCTGCAGGGCCGGGTGGGCCTCCCCACACACAGAATCGCCTCCAGTCCCTGGGACTAGGGCTGCTGCCTCTGGCTCCTTCTGGACTGAGGCCACCAGGTGAGCCAGACACTGACAGCCTGACAGCTCACCCTTTGCTCCTTCAGCTGCCCACGTGGCCATGCCTGCTCCTCCTCGGCACTGGCCACAGCTGAGTTTAAAAATGCCACCATGGCCTCCCGACTCTCCAGTTCCTCCGGGATGCTTGGCATGAGCGGAAGCGCCTCCTCCTCACTGTCCAGTCCATCTCCTTCCCCATGGAGAGCCATGAGGGTCAGCTGGGCCTGTGGCTGCTACTTCTGCTGGCTGGTAGCTTCCAGGTGCTCCTGGGTCTCCTGCAACCCTTGGCAGGCCATCTTGGCCACGACTTTGCCCTGAGCTTCCTCCTGCTGCAGCTGGTCTATGAGCTGGGTCTGCAGCAGTAACTGCTTGTGGAGCTCCTTCTCATAGGGCACCTGCTGATAGGTGGCCACATACTGCTGCAGGTGACCCAGGTACTGATCTCACTACTGCTGTAGACTCTGAGCCTCTTGGCTCTTCAGCTCTACCATCTCCTTCAGCTCACCCAGCTTCTCGCTCGGCTCTTTCTTGATGTGCTGCTCCGACTGTGGTGTGCTGGTGATCTCCATGTTCTCATTGTTCAGCTTCATGAAGCCAGTCTGCAACTTGGCCAGCTGCTCTTTGAGCTCACCATTCTGGAAGACTGCATGACTGATGGTGGTGAGGTCATTCTGCATGGTCTCCAGGGTTTGCCTGTGCACCTCCACCTGCTCCTCCCAGAGCTCAGCCTTCTGCTCTAGCTCCAGCAGCCTCTCCTCCTGCTCTCGGTTCAGGAGACTCAAGCCCTCATTGTCTTGCACCTGGGCTTGGAGCTGTCCTGCCAGACCCTCCAGCTCCTTCCGCAGGTGCTCGGCCTCCACTTATAGCTGCTGCTCCACCTCAGAGGGCCCTGCTGGGGGCTCCAGGAGCAGGGGTTCAGCGATCTGTTCCCTCAGTTTGGCCAAGCTGGTCTCCAGCTCCTGTACCCGAGTCATGCTGTGCTCCTTCTCCTCCCTCAATGTGTGCACCTGCTCTGACATCGGCTGCATCCTCTGCTACCGCATGGCCCTCCCTCCTTTCAGATTTTCAGTATATTGGTCTTTCTCCATCTGTAGCTGTTTCAGCAACTCCATAACCTGCCCCAGGTGTGCTTCCAGCTGTGCCTGCTCCTCCATGGCCTGCTGTAACTGCTGGTTAGCATCAGGGGGTTCACACTGGCTTGAGGACTATTGAAGCAGGAGCTTGGCCTCTCCAGCTTCTTTTGCAGATCCTCCAAGTTGAGCTGGATTCCTGACTTCTCTGTCACTAGGACTCAAATTTCTCTTCTAATTCTGAGTTCTGTGGCTTCAGATCCTCATATAACTCCAGCCTGAGGGCATCTCTCTCCTTGGTTAACTCTTTGTTGTATTTGTGTCTTCTTCTGCTATGTAGAGACAGCAGAGAGAGCCCACTCCAACTCTCCCACACGCGCCAGGAATACTGCAGGCAGCTGGCCAGATCCTTTGACTCTCCTTCAAACTGCCTGGCAGCATGCTGAGTGTAATACAGAGCTGTCCATAACTCTGCCTTCTCGGACATGAGGATCCCTATGGTCTGAATTTGAACCTGTAACCACTCCCTTTGGCTCCCTGCTTTCAGTTGCTTGCTTTCTTTTCTTCTTCCAGTTGATCCAGAATTTCTTGGTTTTGTTGTTTCTCCAGATCCTTCAGGTTAGCAGATGATGCAGGGCCCTCCCCATTGACAAAGGATGTAGACTCAGAGGCAAGACAATTGAGCTGTTGAAGAGTTGTCCTGGGCTCTTGATCAATGAGAAAGTCTTGGTTTCATCCATGAGATTGGGACCAATGTCAGCATCATGATTCTGAGGTGCCGCCATGCTAGTGAGACTGGCACCAGGGGAAGAGACACCACCAGCTAACATGGTGTCATGAGCAGACAGTTGTAGAGGAGAAAGCATGGTCTTTGCACATATCCTCAGGTGAATGGCAACCACCAGAAGTGGTTGTCTCAGGATTGCTGCCATTTTTCATTTTCTCCTTTTTTGCTCTTGTACCTACACCAGAGTTGTTTGTATGCTGATATTCTCTCAATGTTTTCTTGGCCACAGCCAATTTGCTCTGTAGGGTTTCTTCAGACATCACAGGCAGGGTGGGAGGTGGGGTTGGGGCCATATCAGCACGATCCTGGCAACCACTGCTAAACACATCCAGTCATCTACCGGGCAGATGTGCAACTGATCCAGAGGAGAGTTAACCAGGGCCACACTAGAACTCAGAATAGGGTGTGGTCTCAATGCTCCAAGCCCATTGGTCAATGAGAAAGATGAAAGGGAAAGGAAGCATGGCCAGGTGGCAGCATGTCCAGAGGGACGATTTTTCTCATGCATCTGTACAATGGAATTATAGGATTGTTGGGCTCTTGCTAGATTATATTGATTCTTATTAGCTCCAAACTGCACTCTGGCTTTGCCTCTGACTAAGATGGCATTTATTTGCATAATGACCAATTCTTTTGTGTAGGCACAGCTACAGCCCTGTTTTGTGAGAAGTTCCATACACAGTGCTCCCCCATCCAATACATATCCTCCTGAGAGAACAGGTAACACCACTCAAACAAATGGAGGATAAAATGGAAAATTGTCCTGCTACCCTCCAAAGTCTATGAATACCAATACTAATAACTTGGCAATTCAGTTTAAGGTCCTCTTCATAAGGCCAGTTAGCTCAAGGCAATAACATTCTTCCCAGGCCTCTTAAGAAATACTCCTACCCCAGAAAAGGCCCTTCTTTCTGGTGTTAGGAGCCATGGTCCAGAAACACAAATCCAGTAGCATTTCAGCCATTTACCTCTCAGATCGCCTCCTCCCTAAAGTTCTACTTTCCTGGGTTTTTTTGTGTTTTGTGTTTGGCCTTGGTTCTTCATTCGTTCCCCCATATGAGTCAGTAAAAATGTAGCCATTAGCAACTTCAGTTAATATATAACAGATTCATACTTTAGGACGACAACCCAGTTGACAACCACAACAGTTTCTTAAAAGACATGTTAAACAAAATATATTCTATGCTTTCTTTTTCTTTTTTGATCTGAAGATCATTGTGCAAAAGACTATCAGGGTCGACCTTCTGCAGTTTAACATGCCAGTCATGTACTGTCATTTACGAGTTCCACTGAATAAATCCTTTTCAAGCAATATTGCTTTGCTTTTGCCAGAAGATAAAAATCATGTAAGAGTTAATTCTCTATCAGGAAGAGGACAAAAAAATTCCAGCAGACCTGTTTTATGTTTTATAACTCCATGATCTGCATACGTCCCTGAGCTCTTTCATAAGTCCATCTGAAACTTGCACTGACCCAAACACCACATCACATTTAAATGGCCTTGACTTTGAGTCTTCCTAATTTTCTCTAATGTTGCCAAATTTTCTTTTTCAATTCCTTCATCCTCCAACTTTTTCCCACTAATAAGTTCTTCTTTCTTCATCTTACAGTGATTTAAGTATTTTATATCTCCAGCCATCTCTTCTTCCTCTTCTTCTGAAGTCACTTCTATTTTCCCATTCTGACCCATGGGTAGTGGTTGATCTAGCATCTCAAACATCCAGGTGCTTAGGAAGGTTATATAATCTGCAGAGTTCACATATCAACCACTTCAATTGCTGACGAAGGTAATTGTTGTTCTCAGTATCTTCTGGACGTTCCAGAACTGATGTCAGATTTGGGTCATCACAGTCCACAAACCATATTGGTGAAAAAGATGGATAGGATTCTTGGAATCTCTAGGCACGAGAAGAGGCTCAACCCATCATGGAACAGTCCTGGCCTCCGTGGTGTCTTGTCCACAGGAGATTCGGCAATGTGTAAATATTCAGGAGACTGGCCCAGGTGCAGGGCTGCGAGGGTGCGCTGCTGTCCCCGTGCCGCCGCCGCCAACTCAGTCCGCAAAGCTGAGCATGGGGCGCCACTGCAGCTCTTTGTGAGCCTGCGCCAAGCCGCACACCGCAACCCGTATTCACTCCTTCTGATAAACAATTCACAGAAACTTCATAATTTTACACAGGACAGATGGAAGAAGTATTTTAAAATAATATTACCTGAAACAATTATAATGCAGATTAAATAATTATTCAAAGAAATAAAATCCTCGAACTGAGATTATCATTCATTCACTCCTTCAAACATTTCTTGAGTATACTCTAAGTTCCTAGGGTAGATAAATAAGTGAATCGAATACTGTCCCTACTCTCAAGAAACTTATCCTCAGGTAAGAAAGAGAGATACATAGACAAATAGGAGACAAGAGGGAAAAGTGAAGTGTGTGGACAACCATTCATTTAATTCATTTGACAATCAATTGTGTATTTTCTATATGCCAGACCCTGAGCTAGGTGTCTTATTCAATCTTCATAATAGGTTTATGAGGTGGGTACTGCGATAGCCAGGTGGGAGGGGGTTGCTGGAGAAACTCCAACCAGCCTGCCCACTGAGGTGGAGCCTTGGAAAGTTTGCTACATTTGCAGTAGGGAGGAGCCTGGTCCCTCCTCTTCCTGTGTGGAACCTGGAATTCGAACAGTGGGCACAAGCACTCTAGCAGGGGGCTCTGACCTTGTGGAGGATCCCTGTTTCCCCCCTTTTTAAACCTTTTCACACAATAAAGCCCTGCTTCAGTCACCCTTCAAACCGTCTCCGAGCCTAAATTTTCATGGCCATGGGAGAGCCAAGGACCCTGTCTTTAGCTGAACTAAGGAAAAGTCCTGCAACAGTACG	A86662916G	CNGB3	NM_019098.5(CNGB3):c.852+4010_903+1699dup	noncoding	Pathogenic
8	86654024	AGAAGT	A	G86654025C	CNGB3	NM_019098.5(CNGB3):c.886_890del:p.Thr296fs	coding	Pathogenic/Likely_pathogenic
8	86666937	T	TC	T86666940C	CNGB3	NM_019098.5(CNGB3):c.839dup:p.Gly281fs	coding	Pathogenic
8	86667103	ACAAGCAAGAGCCACAGGAGATAGAGTCGATCTGGAAAAACAGCAAGTGGTGAAATCCAAATGACATAGAACAAACACAGAAAGAATTCTGTTGCTTAGTTTGGGGAGGTTGGGGCACTACCCTCTACAGAGTAATTTGCCATAGGAGGCTCTATTAAACATTCAACACCATTCTGCCTCTGGACTGTGAGGCTCCGGGCTTTACAAGAGATGTTAAATGATCTTATCACCTCTTCCGAAAGTGGAGAGTTTCCTTCCAGTCTCCTTAAGAAGTGGCCCCTCTGAGTCTGTCCACACAGGTAGCTGTACTATTTGGATCAGGCAACGAGAATTTCAAGAAAAGTTGGAAGGACTTTGCACAGACATCACTGCAGCCACAGATCTTTAGTTCCTCAGTAGTTAAGTTGCAGGATTGATTGCCCAGGGCAGGTGGCAGAAAGGCCACATCCTGCCAGAAGGAGTATGGCACTGAATGGGAGGGCAGAGGGTCAGCCCATTAAAGTAGTCCATGTCCCTTCACACATAGCCCTTCTCTGCCTCTGGGAGGCTGCAGGAAAGGATTTGTTCAATTAGAATAATCAACAATGTGAAGCCATGGAAGAAGACTGACACTTTATAATGATGTGTGAGTGTGTCAGTGCACATATTGCGGAGTGCTTTGGGCCTTCTTTTCAAAGGTAATTAGGGGCAGGAGAGGATCTGGACTGCCTTTTAAATATAGGCAGGAATATTGTATTTCTTGTCTTCACCAAAGATGGGCAAATGATCCTTTGCAGGTTATTTAATTTAAATTCTGCTTCCTAGTTAGATTGAGAATATGAAGTAAGGAAAATAGAAGCTATCTGTGACTTTGAGTCACAGGGTTTCTTGGTGATAGCCAGCCCTCCCACTATGATAATTCACCCTTTGATAATACCTGTGTATGAATCTATGCTGTTTGGAAGTTTAATTCGCTTTAAGTACTCTGTTAAAGGCATCTTTTTGACTTTGAACCACAACAGCCTGTAGTAATGTTCTGTTGGCTTATCATCGCTTTCTTTTACTGGTGGTACAGCCGTGGGCTTTGCTTCATAGGGAAAAAAAAAAAGATGAAACATTTGAAGAGGTTAAGTTAGTTTAGTTAAAAACTTGAATTTCTTAACCAAACACCGCATGTTCTCACTCATAAGTGGGAGTTGAACAATGAGAACATATGGGCACAGGGAGGGGAACATCACACACTGGGGTCTATCGGGGGGTGGGGGACAAGGGGAGGGATAACATTAGGAAAAATACCTAATGTAGATGATGGGATGATGGGTGCAGCAAACCACCATAGCCCATGTATACCTATGTAACAAACCTGCATGTTCTGCACATGTATCCCAGAACTTAAAGTATAAAAAAATCCAAAAAACTTGAATTTCTTAAAGTCGGAACGTTTATGAATCTTCCTCTTTTGATACAGACAGATGAAACAAAACCTTCATGACATTTAAAATAGTGACATTTATTTCACTGTGTGTGTGTTTGTATAAAGAAAAAATACGTCAATGTAAAAAATTAAAGGAAAAACAATTTTTAAAATAAATAAATGTTAATAAATTTTTACAAAAAAAAAAAAAGAACAGGAAAAACTACTAAATGATGACAAAATTCAGGATAGTGTTTACCTTGGCAAGGGGGCTTTGTCACCTGGGTAGACCGGAAGTTTTCTCTAGTGAGGGAAATGTCCTTTATCTTGGAGGGTGGTGATGGTGATGCAACAAGACTATTCATGTGTAAAAATTATCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTCCTCTGAAGGCTGAGGCAAGAGGATCATTTAAGCCCAAGAGTTAGAGGCGGCAGTCAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGCCATTAAAAGAATAAAATAAGATTAAATAAATATATAAATAAAATGTTTGTCTACACTGAAATATTTATGGATGAAATATAGTGTCTGGAATTTGCTTTAAAAGCTCATTGTAACTCCAATATTACAGGAAATAAATTTTAAAAAATGAAAAAAGAATATGTTAAAATAATTGAGCTGTACACTTAATATTTGTGGATTTTACAGTTTTTAAACTGTCTCAAATAAAAATGTAGCGTATAAAATAAAGACATTCTCACATTAAAAAAGAAAACAAATCATGTTGTATATCTTAAAGTATACAATAAAAACAAAATAAAATAGTAACATTTATGAAAATATACAGGTAATGAAAACACTGAAATTTGGAAATATGTAACAGGTTTAAAGCTCACAAATAAGGTGTCACAAAGGTGTTACAAATAGAGTATTTTAAATACAAGCTTGATTTTCACATACTTTGGAGCATTAATAAAGCCAGAGATCCGAAACACTGCAAACGTACATCATTCCACAGGTTTTGGTTTGGTGCTTCTTTACCCTCACACATGTCACACACAATATTCTTTTCAATATATCTTTATCGAAGTATAATAACTATGATTTCTTTTAGCCTCTTCTGTTTAAAAAGAAACTGTTATACAATACACAGTTTATTTTGAAAACCCACATTCTCTTATACAGAACTACAAGGAATCTCAACTCCATCCCATGTAATTATCAACTTGATTTGCATTTATATGTTAAACAACAAAGCTTTGTTCTATTCTTTTCCTGTATATATATAAATATTTTACATAGATGTAATCACAGTATGTATTACTTTTGTGCTCTATATTATCATATTGATTTTTTTTTTTTCGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCACCTCCCAAGTAGCTGGTACTACAGGCATGTGCCACCATGCCTTTCTGATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGGGCTAGGATTACAGTCATGAGCCACTACGCCTGGCCAATTAATTTTTCATACACACATTTTTGTAGTTATTAGCGTGGTTGATAATAGTCCCTCCCCTTACTTGATTGGTTTGTTGATGTCCTTTGCTCTCTTGGATACCCAGGTAATATTCCTGTGTTTTTATAATATGTACTTTGCATAACATGGGTATTTTAAATATTTACAATAAAATTTGTTATAGAAGATACTGTTTGTGTCCTACACATATATCCTGAGCCTGGAGGTCACCTGTAGGAGGCTTCCCTGCATCTGTCGGAGGATTTCCTCTAGCAGGTTTACTGAAAGTGCTGGGGAGGTAACAGTATCAGGCTCCAGCACCAACCAGTTTCCTCCTCTTCCATTCAAGTAATTTTCAAGTATGAGCCACACAGTTTTTCAGCTGGATAAAGCCCCAATGGCAGAGCAGTAGTCCTCTTATTCTTTTTCTTTTTTTTAATTAAAAAAAAGAGATAGGGCCTCACTATGCTGCCCAGGCTGGTTTCAAATTCCTAGGCTCAAGCAATCCTCCTGTCTTGGTCTCCCAAAGTGCTGGGATTATAGATGTGAGCCACTGCACCCTGCCAGGTGTGAGCCACTGCACCCCGCCAGTAATCCTCTTATTAACCCATCTGTACTGTCTTAACTTTGTTCTCTGTCTCACCACTCGTACCTTCCTGGATTACTCTCAAAATAAACTGTACGTAAATCATTTTCTCAGGGTCTGCTTTTGGGAGATCCAAACTAAAACATCTGCAAAACACAGGTCCCCTCAGCACTTCTTTCTTCCCAGTACTTGGAGGGAGCAATGCTTACCAGTTTGTGGGCTGGCTTCGGGTGAGGAGAGATCTCCCTCTACCAACTTTTTCTTGTAGAGGGCTGTTCTTTGACGCATTCTTTTCACCAGGTTGTGTAGCTGGGCATCGGCATACTCATTTATAACAGGAGCTGCAGGCGGTTTGTTTTGTGGGCTAAATGAGAAAAAAAATGGCAATAGAGATGGGCCCATGAAGAAATAGATATAAGGGAAAGATTAAATCTTTTCACCTTCCTTATATATTCAAGATTATTAACTTCCCCTTTTTTGCAATTGAATAGCACAATTCAAACATTAGGTTTAATGGAAATAGTGCTGGTGGAATACAGATTTGTTATTAAAAAAATTAGAATCCTCAAATAGCAAGTGGTAACTCTTGACCATATTGGATCTTGATGACAGTGATTCTGTTATTACATTGTATCACTAGGACAAGTAAAGCTACAGATGGTGGGGCAGGCAGAAGCCTAAGATGGCCCCAAGATTCCCTGCCCCTTGGTATATGTGCCTGCATAATCCCAGGGACAATAAGTATGGTGGTTTTATTCCCATCAGTAGTCCATGTTATGTGGCACAGTTGATAAGGAGATTATATAGGTGGGCCTGATCTAATCATACCAGGCCTTTAAAAGTAGAGTTTCTCCAGCTGCTGACACAGCAAGAAGGCAGAGATTTGAAGTACAAGGGAGATTTTACTTGAGATAAATCCTCCATGGCTGATCGTGAAGAAGAGGGTCACCTGGTTAGAATTTCATGAGGCCTCTAGGAGGCTGAGAGTGATTCCTGGCTAGCTGTTCACAAGAAAACAGAGACTTCAGAGGTACAACTGCGGGAACTGATTTTGCCAATAACCTGAATGAACTTGGAAGTAAATTCTTCACCACAGCCTCCCAGTGAGAGCCTAGTCTGGCCTGGCCAACACCTTGATTTCAGCCTTGTGAGACCTGAAGCCAAGAACCCGGTTGAGCCCACTCAGACTTCTGATTTGGACCCATTTGCTAATAGCTGGGTGGTTTTTAATTTAATTTTATTTATTTGTTATATCTTCAACTTTTATTTTTGGGTGTTGTTTTAAATCACTTAAGTATGTGGTAATTTGTTATGTGGCAATAGAAAAATAATGCAGCTGCTGTGCTTCAATGAACTTCCTTTTGATTTTTTGTTTGTTTGTTTGGACTGAGTCTCACGTTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCGCAGCCTCCCAAGTAGCTAGGACTACAGGTGCATGCCACCACGCCTAGCTAATTTTTGTAGTTTTAGTAGAGACTGGGTCTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTTTGCCTGCCCTGGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCTCCGTCCCCAGCCAATGAACTTCCTTTCTGAGAAAATACACAAACAGCCTAGCATGGAGCATAGAGTAGACATTAGGATACTTCATCAAGACCTGAGCTTCTTCACAGATTTCCCTCAGAGCTCTCACTGTCTATCTTCCTTCCAATGTCTGACATTGGGTCTACATGAGCCCATGTAGGCTCCATCCATACTCTTCTCATATCTGCCCTTCCCATCTCACCTCCAAGTGGCAGCCCATGGGGTTCACAGCGCATCTGGGCAACTTGTAGATTCCACTTAAGAAAATCTCAGTATTGAGTATGAGCCCCTCTCCATGAACCCCTTCCCTACATGGCCCACAGATATATTACATCTATAAATGTTTACAGGTTCCCAGACTACCCATGTTTTTCTCTCTTACCTTCTTATTATCATGGTACAATTTATACTTCTTTCAAAGGTAAACGGTCCTGTCTCAGAATCAAGATCTCCAAGTATGTCACATTAGGACATATAAAAGCCTACTTAAGGATGGTAGAGACCAACGGGCAGTGAACATAGTTCAGATTCATCTTCAACAGTTCAGAAATAGGTGGACACTAGGTCCATAAAGCCAGAATAACTTTTTTCCTGATTAAGACTTGTTGTCATAGATATAATTTCACTGATTCCTTCTTAAAGGTGTGCTTAGAAGTTTATTCATCCATCAAGCAGTTATTGAGTTTCTACTTTATGTACTGCAAATAGAAATATAAGTTACACAGTGTCAGGCCCGATAGTTGTTCATAGTTTAATGGGGGAAACAAGGATGTCAATCCATAGCTAATGGTAAATAATAAAAACATGTGCAAAGTACTTTGCTCCACACTGAATTTAGCCTGGGGTGTCAAGGAGGGGCTTTGTAGAGGAAGTACACTGTCTTAAGGGACCAGCATATCTTTGACAGATAAATGATAGACTGTCTTTTAGGCATGGAGAGTGATATGTTCAAAGGCATGAAAGAACATGGCATGTTCAGCAGATTTTGGTGTGATTGGAACAGAGTATATGTGTGTGTGTGTAGGGGGCCAGGTGGCAGAGGGTGGCAGGAGTGATGGTGGTTGGGTATGGAAAGGAAAGGTGAGTGAAGTCAGGTTATGATGGTCCCATGTGATCTATTGAGGAGTTTAGACATTAAGCAGTGGGCAAAGAGAGCCAATGCAGGGTATTAAGCAGACGAAAGGCCTGAGCAGACAGCTTTGAACTTTGGAAAATTAGCAATAGTGAGAGGATAGGCTAATGAGCTGTACTGGAGCTTTTGGATAATTCAAAGAAGAAATCAAGAATGACTAAGTTTCTATTACAAGAGACTAGACTCATGAAGATGACATCAATATAAATAGGAATTCAGGAAGCAGATGTTTGTATGAAGTAGCGGCATGAAAAAATTTTTTGTGTGTGTATCTTCAGTTTGAGGTGTTTGTAGGACCTTGTGTGATAAAACCTTGTCTGTGATATTCAGGAGACATTCAGAAATACAGTTCTGACAATAAGAACTTGGGGTTCATCAGTGATTATGGAATATTTGAAGTGATTTATGTGTATAACACCATCATAGACTGTAAGATTCTCAAAGCAAGGAACTGTGTCTTTTCTTCATACTCCATAAGATCAGCACAACGTAGGTTTTAATAAATGCTTATTGAGTAAATACACCCACTACTTTTAACAATTTGTTTGACCTTAGTTGATGTGCCTGAGTGCTTTAAAATATATATAAAAAGCTATGTTGAATGTTGCTGAATCATTAACTATAAAGTCAGGTATTCAAACTGTCAAACTCTCCAGTGTCCCAAGATCTGAGGAGAATATTTTTTCTTTCCCTGAATTATCTATAAGCCCTAATTGACCATATAATTGCCATTTAGTTATATTACTTTGTAGTGTGCAAACCCACCTCATGGTTAAAATGCTGAAATTCACATGAAAAAGAATGCAAGCATATCAAATACATATCTATATTTTAACTACTATGCATTTTTGTCTTTATGTTAGCTGGAGCATTATGATGTCATTTTATTTCATCTTCTTGTCTTTCTCCAGCTTCTTTTCTAGGATCCTTGCCATTCTCCTCTGCCTATATACATATGGAAGCCATGAATGTATTTTTCTTTAGGTAATTTTGTTATGGAACAGGAAAGGCAAATAGAGAGGAAGAAACATACATCATGAGATAAAACCCAAAAGGGATAAAAGAAAGAACCAATGGTTTTGCCTTATGTAACTATGCTTCATCTGAGCTCTGTTTGCTATTTCTTGTTTATATTACCAATTTTATGCTTTTTAAAGAATTATTCCTAATTCCATGATGAAAGTTTTGGTAAACAGTAAAAATATCTTACAATTTAACTTTTGTGTGTGTGTGTGAGATAGGGTCTTGCTCTGCTGCCCAGGCTGGAGTGCAGTGGTACAATCATAGCTCACTGCAGCCTTGACTTCCCTGGGCTCAAGCCATCCTCCCACCTCAGTCTCTTGGGTTGCTGGGACTACAGGTGTGCAACACCACACCTGTCTAATATTTCTTTCTTTCTCTCTTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAAAGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTTCCAGGTTCAAGCAATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAAGTGTCCACCACCACACCTGGCTAATTTTTGTATTTTTTAAATTAGACACAGGGTTTCATCATGTTGGCTAGGTTGGTCTAGAACTCCTGACCTCATGTGATCCACCTTCTTCGGCCTCCCAGAGTGCCGGCATTTCTTTTGTGTGTGAGTCTGTAGACATGAGGTTTCACCAGGTTGCTCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCTTCCTGCCTTGGCCTCCCAAAGTACTGGGATTACTGTTGTGAGCCACTGTCCCCAGCCAATTCTACAAATTTTGATAAACATAGGAGGAAACTCATATTGGATAGTTGTCTTCCTATTCTATTCTATTTTGTTCTGTTCTAGAGATGGGGTCTCACTCTGTCACCATCATAGCTTACTGAGGCCATAAACTCCTGAGCT	A	G86667111T	CNGB3	NM_019098.5(CNGB3):c.339-4415_673del	coding	Pathogenic
8	86668178	GA	G	A86668189G	CNGB3	NM_019098.5(CNGB3):c.494-11del	noncoding	Benign
8	86668178	G	GAA	G86668190A	CNGB3	NM_019098.5(CNGB3):c.494-12_494-11dup	noncoding	Benign
8	86670991	T	TA	T86670992A	CNGB3	NM_019098.5(CNGB3):c.445_446insT:p.Lys149fs	coding	Pathogenic
8	86670991	TTTTT	ATTTTC	T86670991A	CNGB3	NM_019098.5(CNGB3):c.442_446delinsGAAAAT:p.Lys148fs	coding	Pathogenic
8	86671024	CT	C	T86671028C	CNGB3	NM_019098.5(CNGB3):c.412del:p.Arg138fs	coding	Pathogenic/Likely_pathogenic
8	86671079	CA	C	A86671080G	CNGB3	NM_019098.5(CNGB3):c.357del:p.Ala120fs	coding	Pathogenic
8	86723676	TGCCCCTTTCAAGTTGTTCCTTCAGTGCAGCTGGTTTTCACCCAATCCTGAGAAAACATGTGAACAACCATCTAATAACAAAGCAAGAACTTTAAGCTAACTTGGGTCTACTTAGTTTGTTAATACTTCTCAAACCACTTTGCTATCTATGTTGTAGCCAGGAAGACATTAAAAAGTGTTCTGACAAAATCATGTCCTTTGCAGCAACACAGATGGAGCTTGAGGCCATTATCCTAAGTGAACTAACACAGGTACAGAAAACCAGACACCACATGTTCTCACTTACAATGGTAGCTAAACATTGAGCACACAAGGACACGTTGAAGAAAACAATAGACATCAGAGCCTACTTGAGGATGACCGGAGGGAGGAGGCTGAGGGTCAAAAAACTACCTATTGTGTACTGTGCTTATTACCTGGCTGATGAAATAATATGTACATCAAACCCTTGCAACATGAAATTTATCTATAGAATCAACCTGCATATGTACCCATGAAACTAAAATAACACTTAAAAAAAGTCTTCTGGATTTAACAGTTTTGCCATCTCAGGATAGTGATACTGATGAAAAGCCATGTTAGAAGAGAAGTAAGGATTTGAGAGCTTTACAGCCTCATGTTTTTTCCTCATTATCTTTGCAATATGCTACTGATTATTCTTGCTTTTATCAAGAATTCTGAGCAGGAAGGAATGGGAAGACTTGGAGAGTCACTTGTGTCTTGCTCTCCTCCTGGAGAAGCTGTATAGTTTTGAAAATCTAGCAGTTCAAGCAAATCCAATATGTTTGGATCAATCAATTCATTTGTTAAATATTTATTGAATATTTACCATGTGCCAGACATTGATGTAGGTACTGGGGATACTAATCATCAACAAAAACAGGCATGGCCCCTGCCATCATGAAGCACACAATTTAGAGATTGAGACTGATGGATTTTTCAGGCAGATAATCATATAAAATGCATCAGCAATAAATGCTGTGAAAGAGATCTTATAATAGGGGCACATAGCCTAGTTAGGAATGTCAGGGAAAGCCTTACAAAGGAAGTATTGGTCATATTGTTATCTGAAGAATGAATAGAAGTTAATTAGGTGATAAGGGGAGGAAAGAATAGAACAAGCAGAGGAAGTAGTATGTGCAAAAGCCTGCGGCAGGAGGGAACATGACAAATACAAGAGACTGAAATAGAACAGGTGTGACTGGAGCAGAGAGGTGGGAAAGTTGTGTGTTGGGAGAGGACAAAGTAAAAACAGGTGAGAGACAGACCAGGCAGGGCCTGAGAGGTCATGTCAAGAAGTTTTTTGTTTTTGAGCTATGCTGATTGACCCCTGGGTAATTGAAAGGTTTCCACTTCCACATTTCAGAAGAGTGTAAGAAATACTAGGAATGAATACGGATTAAAAAGAATTTATCCCCCAAAATGTTAGTTATGGCTTCAACTTCAGTCCTTTGAAAATCTATCAATTGCCGTGGGTTATTGTAAAAAATAAACATATTAAAATTAATGCTAGAAAGGGAGATTAGTTTAGAAGGCTGGGAGTGTATTGGTGTGAGGAAGTAAAAGTTCTCTTTGGGAATTCAAATCTTTTGTAGTCTAATATTAGGAGAGCTGACCCTATTACTACAGGCAAATGAATTAACCTTTCAGTATCTTGGTTGCTTATCTGTTGAGTGAAGATAATGATGATCCACTAATAGGACTGAAAATAATTCTGTAAACAACAACAGTTATAGATAAAATATAAATAATTAGTTGTTCTCTTGTTAGATTACAGTCCTTACCTCAGAGTTTAAACATCTCTCTGCCAAAATAATATGTCAACTTTTATTTTTGTCAAATAACATTGTGTTTATGTGCACACGTGTGTATGTGTGTGCGTGTATGTGGTAGAGTGAGCTTGTGTTTATTTTCATATAGTCAAATTTGTGTTTATCGAAAAGGCATTCTCTGTTTCTGATGCCAATTGTTCATTCAGCAATTCCCTGGGTCCTAGATAATCACGATGACTTCTACTAACAGCAGATGGTTTAACACAGTAGAGGTGCTGCTGAGAGAGAAGGCGGGGTAGGGTGGAGTGGGATGGACGAATAGGTACTTTTAACTTCTTTATAAGTGACAACTCTTTTTGTCTATTAAATAAGAATATGCTTTTATTGTTTCATAAACATATTGCAATTATATCAATTATAGTTAAGCCATTTTAACTGGATCGGCAGGTACATAATACCATGCCAAGAAGAGGCAAAATGAAGGACCTCCTTGTTGGGATTTATTGCAGATTTACTGGTTCACATTTAAATTGTTATCTCTTTTGCAGTATTTCCAATACTCTTACGGGAAGTACTTATAAAGCTGTGTTCCTTCAGTGGCATAAAGATGTTCCAGTTCTGTAATTATTCCTGGTTAGCATGTCACACTTTCTTTAGTGGATAAAAGGAAATAATAATTAATCTTTTGAAACAATAAAATATTCACAGAATTGGAATAGCTGTTTATTTGTGAGCTTGGAAAATTTTCATCATTTCTTTTTAAAATTCATGCCTAGTAAATATATAGGCTGTTTCCATAATGATACAATGACTCATACATGTAACAGCAATATTTTTGTTGTGATTTGGCCTATAGCCAAATGGCTGCCTAGGGATATTGGTTAGTGGCCATGCTGGGCCAGTGAGGTACGATGAACTGGACAGAACCAACCTTTTAGTTCTGACACAGTTTTTTTGTGTTATGTGACTATTGAATTTTTTCTGCCCTTATATTCAGCTAAAGGGGAGAGTGGATATTTGAGCTCTTTAGGGCAGGCTGAGCAATATCTCTAAAATATGTTGTGTGTTTTATTAAATGCTCACCTGTTTGGACCTTCTTTCCCGGGGTCCATTTCCTTCTGCTCTGGCACTGTTCCAGTTGGTTCTGCTGCATTTTGAGGGTCAGGGTTTGTGGTCAGATCTCCAGAGGAATTTTTCTTGGAGAGTTTGTCTATGAAAAAAAAATTCACATAGATAGAAGAATGTACAACACTCTTGACCCAGCTATATTTGGCAACATGAGCTACAAAGATGCTGCTTGTTTTTTAGAATAGTCTTCTCAAGAACACCTCCCCTGGGACTTCTGCTAAACAAAGTAGGACTTTATGCAGGAAGAATTAACTGGTAGACACCTTCAGGCCAATGAAAAAATACAGTCGTGTGCTATTTAATGACAGAGATATATTCTGAAAAATGCATTGTTAGGTGACTTAGTCGTTGTGCAAACATCATAGAGTGTACTTATATCATACAAATCCTGATGTTATAGCCTACCACACACCAAGGCTATACGGTATACTCTATGGATCCTAGGCTACAAACCTGTGCAGCATGTTACTGTAATAAATACTGTAAGCCATTCTAACACAATGGTCAGTCTGTGTATGTAAACATAGAAAAGATACAGTTTGAAATATGTTATTATAATCTTATGAGACTACCCTCTTTTATGCAGTCTTTTATTGACTAAAATATCTTTATGCAGCACATGATTGTAATTGAAGTTGGTGTATTATGTAATAAAAGTTCATAAGATATATTTCTTTTTGATATTGACAAAGCTGAGAATAAGAATTTATTATTCAGAAGGCATTTCCAGTTTTGCTAAAGTATTCATAATTTTGGGCTGAAATTGATACATCATAAAATTCAGAAAAGTAAAATAGGAAAAAATGTGATTGACATTATTTAGCACTTGCATTCTACATTTTTATGAAATCAAATTTTTGTTTTTAGCTTGACCATCTTTAAGTTGTGAAATATTTTCTGACGAAATGATACAAACTAATATGTACTAGCTTTATTTTCAATACAGAAATTAATTTCTTCCCGTCAAGCCTACAGATACAATTTCTAATTAATATAGTTTAAATTGTAATTTACCCAGAGAATAAACAACTTACTGGTAAATATTTGGATTATAGAGAAGATTTTAATGAAAGCAAATTACTTAATATTAAAAGAAAATGTAGAAGCGGAAAAGAAAAATAAGAACGAATACAATTTAATAGTTATTCATTTTCCACAGCTTCTAACATTTTTAATTGGATGTCTTGTGCTTAAGATATTAAAATGGAGGCCCAAATCATCATTTTATTTTCTTGTAATACATATAGTTTGAAGATATAAGCAAACCCAGTATTGAAAATTTGGATTTACAAAAGTGATAAATCAGGGGATGATCACCATACCAGTCCTTTAATATGAACATTTCTAAGATCCATCTAAAAATCTTTCAAGGTACTAAACTTTTCAGGAACAAGTTTCAGGAATAAAGGAAATCAAAAAATTGAGTCACTCCTTAAAATTTTTAAAAGTTTAAGACTAAGAAAGCCTAAATTCTCGGATTTCCCAAGACGCTTTTATTCATTACGCATCTCCTATCTACTTTTATTTTGGAATTATAGTATTTTGGCTAGAAGAGAGAAAACACAGTACTAGCTATGTTTTTGTTATGTTTAAATGGAAAGAAAAAACAATTCTCCAATTTCCTTGGGATACAAAGGTCTCAATATAATCACATCCTTGAAGCCTGCGTATAAAGATTATGTTTAGGTGAAATATTGAAAGTTGTAGGATAGGGACCCTTCTGTACAGGCACATGTGGTACACTAATGAGTTTATCAGTATCCAACAGATTTCAGAGTAAAAAAAATTGCACTTTCAATATGTCATTTTGTACTAACAAGCTTTTGATAAAAAAAGAGAGAAGGATCTGTTTTCCTTATGTGTTTGGGTCAAGTCATATTTTTCCATTTCTCTTTACCCAATCAAAACAAAAATCATATAGATCAGATCTCTGACAAATTTCCATTTTGTATTGCTGTCTGTGAAAGTGGCAGCCTAATCCTTTTTTGTATCCACAAACACTTGGACAATTACTGTATGATATTTAGAAGCAAAATTCTTAATTGCTGGCCATGGATGTCTAGTGCATTTTTCATTTGAAATCCTTGAAGCCGTATGTTGTATATACCTTTTATTACATGGAGGGGATCTGGAGTTATCATGGGCTTCTCAAAGGAGTCCGGACCAAGAAACATGTTATGGATCATTGTGTTCACATATGTTTCTAGGAGTACTTACCCTAAAAGAAAATTAGGACTGATAAAGAATATGAAATATGAGTAAAAATCAGAAAAAAATCCTGAATGTAAAACAAATAGAATCTGTACTGTAAAACATTTCTTAAAGGCTTTTATTGGCTATGGGTTTTTGTTTTGAGACATGGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGTACGATCACAGCTCATTGCAGCCTTGACCTCCTGGGCTCAAGTGATTCTCCCACCTCAGCCTCACGGATCGCTGGAACTACAGGCATGAGCCACCACACCCAGTTAATTTTTGTATTTTTTGTCGAGATGGGGTTTTGCCATGTTGTGCAGGCTGGTTTCAAACTCCTGGGCTCAAGCAATGCGCCTGTCAAAGTGCTGGGATTATTGGTGTGA	T	C86723680A	CNGB3	NM_019098.5(CNGB3):c.212-2527_338+2854del	noncoding	Pathogenic
8	86726606	GGGTCAGGGTTTGT	G	G86726613A	CNGB3	NM_019098.5(CNGB3):c.250_262del:p.Thr84fs	coding	Pathogenic
8	86739620	G	GT	C86739639T	CNGB3	NM_019098.5(CNGB3):c.211+17dup	noncoding	Benign
8	86739620	GT	G	T86739638C	CNGB3	NM_019098.5(CNGB3):c.211+34del	noncoding	Benign
8	86739620	GTT	G	T86739637C	CNGB3	NM_019098.5(CNGB3):c.211+33_211+34del	noncoding	Benign
8	86739620	GTTT	G	T86739636C	CNGB3	NM_019098.5(CNGB3):c.211+32_211+34del	noncoding	Benign
8	86739743	G	GA	C86739750A	CNGB3	NM_019098.5(CNGB3):c.130-8dup	noncoding	Benign
8	86743585	C	CTA	G86743590T	CNGB3	NM_019098.5(CNGB3):c.41_42dup:p.Gly15Ter	coding	Pathogenic
8	89943038	C	CT	A89943054T	NBN	NM_002485.5(NBN):c.2184+200dup	noncoding	Benign
8	89943038	C	CTT	A89943054T	NBN	NM_002485.5(NBN):c.2184+200_2184+201dup	noncoding	Benign
8	89943038	CT	C	T89943053A	NBN	NM_002485.5(NBN):c.2184+214del	noncoding	Benign
8	89943264	GC	AA	G89943264A	NBN	NM_002485.5(NBN):c.2172_2173delinsTT:p.Arg724_Gln725delinsSerTer	coding	Pathogenic
8	89943295	TC	T	C89943296G	NBN	NM_002485.5(NBN):c.2141del:p.Arg714fs	coding	Pathogenic
8	89943365	AC	A	C89943367T	NBN	NC_000008.10:g.90955594del	coding	Pathogenic
8	89943378	TA	T	A89943382G	NBN	NM_002485.5(NBN):c.2071-13del	noncoding	Benign
8	89946158	AT	A	T89946164A	NBN	NM_002485.5(NBN):c.2051del:p.Asn684fs	coding	Pathogenic
8	89946208	TAGAGTTTTTAATCACC	T	A89946211T	NBN	NM_002485.5(NBN):c.1986_2001del:p.Val663fs	coding	Pathogenic
8	89946217	T	TA	T89946220A	NBN	NM_002485.5(NBN):c.1992dup:p.Lys665Ter	coding	Pathogenic
8	89946251	CT	G	C89946251G	NBN	NM_002485.5(NBN):c.1958_1959delinsC:p.Lys653fs	coding	Pathogenic
8	89946270	CT	C	T89946271A	NBN	NM_002485.5(NBN):c.1939del:p.Ser647fs	coding	Pathogenic
8	89947868	G	GT	C89947872T	NBN	NM_002485.5(NBN):c.1869dup:p.Arg624fs	coding	Pathogenic
8	89947889	CT	C	T89947891G	NBN	NM_002485.5(NBN):c.1848del:p.Glu617fs	coding	Pathogenic/Likely_pathogenic
8	89953310	T	TGGCCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A89953322T	NBN	NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAAGGCC:p.Pro593_Arg594insAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
8	89953361	A	AATTTCTAACT	C89953372A	NBN	NM_002485.5(NBN):c.1718_1727dup:p.Asp577fs	coding	Pathogenic
8	89953390	A	ATAAC	G89953396A	NBN	NM_002485.5(NBN):c.1695_1698dup:p.Phe567fs	coding	Pathogenic
8	89953395	TGTTCC	T	G89953396A	NBN	NM_002485.5(NBN):c.1689_1693del:p.Glu564fs	coding	Pathogenic
8	89953398	TC	T	C89953400A	NBN	NM_002485.5(NBN):c.1690del:p.Glu564fs	coding	Pathogenic
8	89953427	ATCCATTTCCCTTTTTTTATT	A	C89953429G	NBN	NM_002485.5(NBN):c.1642_1661del:p.Ser547_Asn548insTer	coding	Pathogenic
8	89953437	CT	C	T89953444A	NBN	NM_002485.5(NBN):c.1651del:p.Arg551fs	coding	Pathogenic
8	89953444	T	TA	T89953446A	NBN	NM_002485.5(NBN):c.1644dup:p.Lys549Ter	coding	Pathogenic
8	89953448	TG	T	G89953449A	NBN	NM_002485.5(NBN):c.1640del:p.Arg546_Ser547insTer	coding	Pathogenic/Likely_pathogenic
8	89953501	A	AT	A89953506T	NBN	NM_002485.5(NBN):c.1587dup:p.Ser530fs	coding	Pathogenic/Likely_pathogenic
8	89953534	CT	C	T89953535G	NBN	NM_002485.5(NBN):c.1554del:p.Asp519fs	coding	Pathogenic
8	89953542	G	GT	G89953544T	NBN	NM_002485.5(NBN):c.1546dup:p.Thr516fs	coding	Pathogenic
8	89953565	T	TA	G89953567A	NBN	NM_002485.5(NBN):c.1523dup:p.Ser509fs	coding	Pathogenic
8	89953604	AG	A	G89953606T	NBN	NM_002485.5(NBN):c.1484del:p.Pro495fs	coding	Pathogenic
8	89953614	TG	T	G89953615T	NBN	NM_002485.5(NBN):c.1474del:p.Gln492fs	coding	Pathogenic
8	89953664	CA	C	A89953665T	NBN	NM_002485.5(NBN):c.1424del:p.Met475fs	coding	Pathogenic
8	89953683	TC	T	C89953686T	NBN	NM_002485.5(NBN):c.1405del:p.Asp469fs	coding	Pathogenic
8	89955236	CT	C	T89955239C	NBN	NM_002485.5(NBN):c.1397+46del	noncoding	Benign
8	89955240	C	CT	A89955241T	NBN	NM_002485.5(NBN):c.1397+42_1397+43insA	noncoding	Benign
8	89955241	A	AT	C89955251T	NBN	NM_002485.5(NBN):c.1397+33dup	noncoding	Benign
8	89955283	CT	C	T89955290G	NBN	NM_002485.5(NBN):c.1396del:p.Arg466fs	coding	Pathogenic/Likely_pathogenic
8	89955317	T	TG	A89955320G	NBN	NM_002485.5(NBN):c.1362dup:p.Ile455fs	coding	Pathogenic
8	89955431	C	CCATA	T89955437A	NBN	NM_002485.5(NBN):c.1245_1248dup:p.Val417fs	coding	Pathogenic
8	89955444	ATT	A	T89955445A	NBN	NM_002485.5(NBN):c.1234_1235del:p.Ser411_Asn412insTer	coding	Pathogenic
8	89955454	G	GT	G89955459T	NBN	NM_002485.5(NBN):c.1225dup:p.Thr409fs	coding	Pathogenic
8	89955454	GT	G	T89955458G	NBN	NM_002485.5(NBN):c.1225del:p.Thr409fs	coding	Pathogenic
8	89955514	A	AT	G89955519T	NBN	NM_002485.5(NBN):c.1165dup:p.Met389fs	coding	Pathogenic
8	89955553	TC	T	C89955556T	NBN	NC_000008.10:g.90967782del	coding	Pathogenic
8	89955561	GA	G	A89955566G	NBN	NM_002485.5(NBN):c.1125-7del	noncoding	Benign
8	89955561	G	GA	G89955567A	NBN	NM_002485.5(NBN):c.1125-7dup	noncoding	Benign
8	89958741	C	CT	G89958743T	NBN	NM_002485.5(NBN):c.1107dup:p.Glu370fs	coding	Pathogenic
8	89958759	CG	C	G89958760T	NBN	NM_002485.5(NBN):c.1089del:p.Thr362_Tyr363insTer	coding	Pathogenic
8	89958776	AC	A	C89958777T	NBN	NM_002485.5(NBN):c.1072del:p.Pro357_Val358insTer	coding	Pathogenic
8	89958777	C	CT	G89958779T	NBN	NM_002485.5(NBN):c.1071dup:p.Val358fs	coding	Pathogenic
8	89970333	A	AT	G89970334T	NBN	NM_002485.5(NBN):c.896+30_896+31insA	noncoding	Benign
8	89970334	G	GT	A89970341T	NBN	NM_002485.5(NBN):c.896+24dup	noncoding	Benign
8	89970405	ACAGT	A	T89970409G	NBN	NM_002485.5(NBN):c.851_854del:p.Asp284fs	coding	Pathogenic
8	89970411	AG	A	G89970413A	NBN	NM_002485.5(NBN):c.848del:p.Pro283fs	coding	Pathogenic/Likely_pathogenic
8	89970458	TTCCCGGAGCCAAAAAGAAATTATGTTCTTCTTCATTC	T	C89970461T	NBN	NM_002485.5(NBN):c.765_801del:p.Asn256fs	coding	Pathogenic
8	89970474	GA	TT	G89970474T	NBN	NM_002485.5(NBN):c.785_786delinsAA:p.Phe262Ter	coding	Pathogenic
8	89970522	AC	A	C89970524T	NBN	NM_002485.5(NBN):c.737del:p.Gly246fs	coding	Pathogenic/Likely_pathogenic
8	89971248	AT	A	T89971253A	NBN	NM_002485.5(NBN):c.626del:p.Asn209fs	coding	Pathogenic
8	89971270	TCATCAAGAGGTGGGTA	T	C89971271A	NBN	NM_002485.5(NBN):c.589_604del:p.Tyr197fs	coding	Pathogenic
8	89978247	GACTCA	G	C89978251G	NBN	NM_002485.5(NBN):c.552_556del:p.Glu185fs	coding	Pathogenic
8	89978283	G	GA	G89978284A	NBN	NM_002485.5(NBN):c.520_521insT:p.Pro174fs	coding	Pathogenic
8	89980783	GTCCAATTGTTTACAGTAAATCC	G	T89980789G	NBN	NM_002485.5(NBN):c.409_430del:p.Gly137fs	coding	Pathogenic
8	89980799	TA	T	A89980802T	NBN	NM_002485.5(NBN):c.414del:p.Phe138fs	coding	Pathogenic
8	89980813	TGCAATATA	T	A89980816T	NBN	NM_002485.5(NBN):c.393_400del:p.Ile132fs	coding	Pathogenic
8	89980861	GA	G	A89980863G	NBN	NM_002485.5(NBN):c.352del:p.Ser118fs	coding	Pathogenic
8	89980878	AG	A	G89980880C	NBN	NM_002485.5(NBN):c.335del:p.Pro112fs	coding	Pathogenic
8	89980883	C	CA	T89980885A	NBN	NM_002485.5(NBN):c.330dup:p.Glu111Ter	coding	Pathogenic
8	89981411	TC	T	C89981416G	NBN	NM_002485.5(NBN):c.283del:p.Asp95fs	coding	Pathogenic
8	89981463	C	CAAAG	G89981468A	NBN	NM_002485.5(NBN):c.228_231dup:p.Val78fs	coding	Pathogenic
8	89981478	T	TAA	G89981480A	NBN	NM_002485.5(NBN):c.216_217insTT:p.Lys73fs	coding	Pathogenic/Likely_pathogenic
8	89981482	ATTATCTTT	A	T89981484A	NBN	NM_002485.5(NBN):c.205_212del:p.Lys69fs	coding	Pathogenic
8	89981483	T	TTA	C89981487A	NBN	NM_002485.5(NBN):c.210_211dup:p.Asn71fs	coding	Pathogenic
8	89981486	T	TTA	C89981487T	NBN	NM_002485.5(NBN):c.208_209insTA:p.Asp70fs	coding	Pathogenic
8	89981518	T	TTA	G89981520A	NBN	NM_002485.5(NBN):c.176_177insTA:p.Gln59fs	coding	Pathogenic
8	89981824	GTC	G	C89981826G	NBN	NM_002485.5(NBN):c.172-303_172-302del	noncoding	Benign
8	89982735	GA	G	A89982739G	NBN	NM_002485.5(NBN):c.157del:p.Ser53fs	coding	Pathogenic
8	89982779	A	ATCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A89982788T	NBN	NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGA:p.Asp38delinsGluAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
8	89982796	T	TGGCA	C89982801G	NBN	NM_002485.5(NBN):c.93_96dup:p.Ile33fs	coding	Pathogenic
8	89982803	GT	G	T89982808C	NBN	NM_002485.5(NBN):c.89del:p.Asn30fs	coding	Pathogenic/Likely_pathogenic
8	89982865	AT	A	T89982874A	NBN	NM_002485.5(NBN):c.38-11del	noncoding	Benign/Likely_benign
8	89982874	TA	T	A89982881G	NBN	NM_002485.5(NBN):c.38-20del	noncoding	Benign
8	89982874	T	TA	G89982882A	NBN	NM_002485.5(NBN):c.38-20dup	noncoding	Benign/Likely_benign
8	89984538	CGCGGCGGGCA	C	G89984541A	NBN	NM_002485.5(NBN):c.14_23del:p.Leu5fs	coding	Pathogenic
8	89984557	CA	C	A89984558C	NBN	NM_002485.5(NBN):c.4del:p.Trp2fs	coding	Pathogenic/Likely_pathogenic
8	89984909	ATACT	A	T89984913C	NBN	NC_000008.10:g.90997138_90997141delTACT	noncoding	Benign
8	91071244	TAGAG	T	A91071247G	OTUD6B	NM_016023.5(OTUD6B):c.192_195del:p.Glu65fs	coding	Pathogenic
8	91078560	C	CT	G91078562T	OTUD6B	NM_016023.5(OTUD6B):c.521dup:p.Thr175fs	coding	Pathogenic
8	91078564	CTG	C	T91078567G	OTUD6B	NM_016023.5(OTUD6B):c.527_528del:p.Val176fs	coding	Pathogenic
8	93758462	AT	A	T93758470C	TMEM67	NM_153704.6(TMEM67):c.313-13del	noncoding	Benign
8	93763911	CTT	C	T93763914A	TMEM67	NM_153704.6(TMEM67):c.479_480del:p.Phe160fs	coding	Pathogenic
8	93772619	AAGTATTT	A	A93772620G	TMEM67	NM_153704.6(TMEM67):c.683_689del:p.Lys228fs	coding	Pathogenic
8	93780912	T	TAGGATTAGCACCTCAATGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	G93780929T	TMEM67	NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA:p.Val309Ter	coding	Pathogenic
8	93781498	GT	G	T93781499C	TMEM67	NM_153704.6(TMEM67):c.979-159del	noncoding	Benign
8	93781673	TTTGTTGCTGCTTCCTATGA	T	T93781675A	TMEM67	NM_153704.6(TMEM67):c.996_1014del:p.Phe332fs	coding	Pathogenic
8	93781731	GAGGTGTTTTAC	G	G93781736A	TMEM67	NM_153704.6(TMEM67):c.1057_1065+2del	coding	Pathogenic
8	93781926	C	CT	G93781937T	TMEM67	NM_153704.6(TMEM67):c.1065+192dup	noncoding	Benign
8	93781926	CT	C	T93781936G	TMEM67	NM_153704.6(TMEM67):c.1065+192del	noncoding	Benign
8	93782571	GT	G	T93782590G	TMEM67	NM_153704.6(TMEM67):c.1131+130del	noncoding	Benign
8	93786217	TA	T	A93786221G	TMEM67	NM_153704.6(TMEM67):c.1289-2del	noncoding	Pathogenic
8	93786265	TAGTGGATGCAGTA	T	T93786272C	TMEM67	NM_153704.6(TMEM67):c.1338_1350del:p.Ala447fs	coding	Pathogenic
8	93787860	AAC	A	C93787864A	TMEM67	NM_153704.6(TMEM67):c.1433_1434del:p.Thr478fs	coding	Pathogenic
8	93793258	TG	T	G93793260A	TMEM67	NM_153704.6(TMEM67):c.1638del:p.Gly545_Trp546insTer	coding	Pathogenic
8	93797244	T	TA	T93797251A	TMEM67	NM_153704.6(TMEM67):c.1960+17dup	noncoding	Benign
8	93803661	GT	G	T93803663G	TMEM67	NM_153704.6(TMEM67):c.2301del:p.Asp768fs	coding	Pathogenic/Likely_pathogenic
8	93803665	AT	A	T93803668A	TMEM67	NM_153704.6(TMEM67):c.2306del:p.Leu769fs	coding	Pathogenic
8	94403877	GTA	G	A94403879G	RAD54B	NM_012415.3(RAD54B):c.944+198_944+199del	noncoding	Benign
8	94407867	T	TA	C94407876A	RAD54B	NM_012415.3(RAD54B):c.500-155dup	noncoding	Benign
8	94458478	AATTTTCTGT	A	C94458493T	RAD54B	NM_012415.3(RAD54B):c.136-51_136-43del	noncoding	Benign
8	95034883	AT	A	T95034897A	NDUFAF6	NM_152416.4(NDUFAF6):c.298-557del	noncoding	Benign
8	95035578	T	TTA	A95035579T	NDUFAF6	NM_152416.4(NDUFAF6):c.420+2_420+3insTA	noncoding	Pathogenic
8	95045545	GA	G	A95045552T	NDUFAF6	NM_152416.4(NDUFAF6):c.485del:p.Asn162fs	coding	Pathogenic
8	95045622	TCTTTA	T	T95045626A	NDUFAF6	NM_152416.4(NDUFAF6):c.559_563del:p.Tyr187fs	coding	Pathogenic
8	95045776	G	GTT	G95045785T	NDUFAF6	NM_152416.4(NDUFAF6):c.580+136_580+137dup	noncoding	Benign
8	95057745	G	GT	A95057760T	NDUFAF6	NM_152416.4(NDUFAF6):c.874-50dup	noncoding	Benign
8	95247826	T	TAA	G95247842A	CFAP418	NM_177965.4(CFAP418):c.471-71_471-70dup	noncoding	Benign
8	95247826	T	TA	G95247842A	CFAP418	NM_177965.4(CFAP418):c.471-71dup	noncoding	Benign
8	95259860	AATCCC	A	T95259862C	CFAP418	NM_177965.4(CFAP418):c.349_353del:p.Gly117fs	coding	Pathogenic
8	95260477	A	AG	C95260480G	CFAP418	NM_177965.4(CFAP418):c.298dup:p.Leu100fs	coding	Pathogenic
8	95263752	CT	C	T95263758A	CFAP418	NM_177965.4(CFAP418):c.177del:p.Glu60fs	coding	Pathogenic
8	95269065	CG	C	G95269067T	CFAP418	NM_177965.4(CFAP418):c.124del:p.Arg42fs	coding	Pathogenic
8	95269085	GC	G	C95269087G	CFAP418	NM_177965.4(CFAP418):c.104del:p.Gly35fs	coding	Pathogenic
8	95269090	CGCAGCCTTTGG	C	A95269093T	CFAP418	NM_177965.4(CFAP418):c.89_99del:p.Pro30fs	coding	Pathogenic
8	95269252	A	AGGGGACCTGGC	C95269267G	CFAP418	Single_allele	noncoding	Benign
8	96231296	G	GT	G96231298T	UQCRB	NM_006294.5(UQCRB):c.259-165dup	coding	Benign
8	96231989	G	GT	A96231997T	UQCRB	NM_006294.5(UQCRB):c.92-56dup	noncoding	Benign
8	96233094	C	CA	C96233106A	UQCRB	NM_006294.5(UQCRB):c.91+51dup	noncoding	Benign
8	96331098	ATCTTGT	A	T96331107G	PTDSS1	NM_014754.3(PTDSS1):c.1312+12_1312+17del	noncoding	Benign
8	98123775	C	CA	G98123791A	POP1	NM_001145860.2(POP1):c.142+311dup	noncoding	Benign
8	98130545	GGGA	G	G98130550A	POP1	NM_001145860.2(POP1):c.735+324_735+326del	noncoding	Benign
8	98155909	TTGTGTG	T	G98155951T	POP1	NM_001145860.2(POP1):c.2058-140TG[20]	noncoding	Benign
8	98155909	TTGTGTGTG	T	G98155949T	POP1	NM_001145860.2(POP1):c.2058-140TG[19]	noncoding	Benign
8	98155909	T	TTG	T98155957G	POP1	NM_001145860.2(POP1):c.2058-140TG[24]	noncoding	Benign
8	98155909	T	TTGTG	T98155957G	POP1	NM_001145860.2(POP1):c.2058-140TG[25]	noncoding	Benign
8	98155909	T	TTGTGTG	T98155957G	POP1	NM_001145860.2(POP1):c.2058-140TG[26]	noncoding	Benign
8	99038679	C	CT	G99038706T	VPS13B	NM_152564.5(VPS13B):c.291+139dup	noncoding	Benign
8	99038679	CT	C	T99038705G	VPS13B	NM_152564.5(VPS13B):c.291+139del	noncoding	Benign
8	99096367	CA	C	A99096371T	VPS13B	NM_152564.5(VPS13B):c.351del:p.Lys117fs	coding	Pathogenic
8	99096755	CA	C	A99096773T	VPS13B	NM_152564.5(VPS13B):c.412+341del	noncoding	Benign
8	99103002	GATAA	G	A99103007T	VPS13B	NM_152564.5(VPS13B):c.467_470del:p.Asn156fs	coding	Pathogenic
8	99103019	TA	T	A99103023T	VPS13B	NM_152564.5(VPS13B):c.483del:p.Lys161fs	coding	Pathogenic
8	99111290	C	CT	G99111299T	VPS13B	NM_152564.5(VPS13B):c.762+19dup	noncoding	Benign
8	99115752	CTA	C	A99115754G	VPS13B	NM_152564.5(VPS13B):c.817_818del:p.Met273fs	coding	Pathogenic
8	99115799	GA	G	A99115802T	VPS13B	NM_152564.5(VPS13B):c.865del:p.Glu288_Ile289insTer	coding	Pathogenic
8	99115832	GA	G	A99115833C	VPS13B	NM_152564.5(VPS13B):c.896del:p.Asp299fs	coding	Pathogenic
8	99121239	TA	T	A99121240T	VPS13B	NM_152564.5(VPS13B):c.1001del:p.Tyr334fs	coding	Pathogenic/Likely_pathogenic
8	99121462	GCTGTTTATATCTCTAT	G	T99121464A	VPS13B	NM_152564.5(VPS13B):c.1206+19_1206+34del	coding	Benign/Likely_benign
8	99135015	GC	G	C99135018T	VPS13B	NM_152564.5(VPS13B):c.1306del:p.Leu436_Met437insTer	coding	Pathogenic/Likely_pathogenic
8	99135077	GT	G	T99135078G	VPS13B	NM_152564.5(VPS13B):c.1366del:p.Cys456fs	coding	Pathogenic
8	99135696	CT	C	T99135697C	VPS13B	NM_152564.5(VPS13B):c.1527del:p.Arg510fs	coding	Pathogenic
8	99143053	TG	T	G99143054T	VPS13B	NM_152564.5(VPS13B):c.1732del:p.Val578fs	coding	Pathogenic
8	99143075	C	CGTTTG	A99143082T	VPS13B	NM_152564.5(VPS13B):c.1755_1759dup:p.Asp587fs	coding	Pathogenic
8	99143083	TA	T	A99143084G	VPS13B	NM_152564.5(VPS13B):c.1762del:p.Ser588fs	coding	Pathogenic
8	99148015	AT	A	T99148019G	VPS13B	NM_152564.5(VPS13B):c.2013+9del	noncoding	Benign
8	99148054	A	AT	G99148072T	VPS13B	NM_152564.5(VPS13B):c.2013+61dup	noncoding	Benign
8	99148054	AT	A	T99148071G	VPS13B	NM_152564.5(VPS13B):c.2013+61del	noncoding	Benign
8	99148054	ATT	A	T99148070G	VPS13B	NM_152564.5(VPS13B):c.2013+60_2013+61del	noncoding	Benign
8	99156580	TC	T	C99156582A	VPS13B	NM_152564.5(VPS13B):c.2047del:p.Gln683fs	coding	Pathogenic
8	99156748	GA	G	A99156752G	VPS13B	NM_152564.5(VPS13B):c.2208+9del	noncoding	Benign
8	99170149	ACT	A	T99170151C	VPS13B	NM_152564.5(VPS13B):c.2321_2322del:p.Leu774fs	coding	Pathogenic
8	99192921	TC	T	C99192923A	VPS13B	NM_152564.5(VPS13B):c.2381del:p.Pro794fs	coding	Pathogenic
8	99192926	ATC	A	T99192929A	VPS13B	NM_152564.5(VPS13B):c.2387_2388del:p.Leu796fs	coding	Pathogenic
8	99193052	GTA	G	T99193055G	VPS13B	NM_152564.5(VPS13B):c.2513_2514del:p.Ile838fs	coding	Pathogenic
8	99209896	G	GT	C99209899T	VPS13B	NM_152564.5(VPS13B):c.2515+16841dup	noncoding	Benign
8	99274214	TC	T	C99274218T	VPS13B	NM_152564.5(VPS13B):c.2536del:p.Leu846fs	coding	Pathogenic
8	99274559	GA	G	A99274564T	VPS13B	NM_152564.5(VPS13B):c.2650+232del	noncoding	Benign
8	99275289	CT	C	T99275307C	VPS13B	NM_152564.5(VPS13B):c.2824+53del	noncoding	Benign
8	99275289	CTT	C	T99275306C	VPS13B	NM_152564.5(VPS13B):c.2824+52_2824+53del	noncoding	Benign
8	99275289	CTTT	C	T99275305C	VPS13B	NM_152564.5(VPS13B):c.2824+51_2824+53del	noncoding	Benign
8	99275335	A	AT	A99275349T	VPS13B	NM_152564.5(VPS13B):c.2824+94dup	noncoding	Benign
8	99275336	T	TA	T99275337A	VPS13B	NM_152564.5(VPS13B):c.2824+82_2824+83insA	noncoding	Benign
8	99384336	A	AT	C99384343T	VPS13B	NM_152564.5(VPS13B):c.2934+25dup	noncoding	Benign
8	99384578	AC	A	C99384580A	VPS13B	NM_152564.5(VPS13B):c.2934+263del	noncoding	Benign
8	99391365	G	GTA	A99391366T	VPS13B	NM_152564.5(VPS13B):c.2935-192_2935-191insTA	noncoding	Benign
8	99391610	T	TG	A99391612G	VPS13B	NM_152564.5(VPS13B):c.2989dup:p.Glu997fs	coding	Pathogenic
8	99391689	AC	A	C99391690A	VPS13B	NM_152564.5(VPS13B):c.3068del:p.Thr1023fs	coding	Pathogenic
8	99431647	AAGCAT	A	A99431648C	VPS13B	NM_152564.5(VPS13B):c.3194_3198del:p.Lys1065fs	coding	Pathogenic
8	99442550	A	AC	A99442551C	VPS13B	NM_152564.5(VPS13B):c.3360_3361insC:p.Ile1121fs	coding	Pathogenic
8	99467454	C	CAT	C99467462T	VPS13B	NM_152564.5(VPS13B):c.3492_3493dup:p.Thr1165fs	coding	Pathogenic
8	99481610	CT	C	T99481611A	VPS13B	NM_152564.5(VPS13B):c.3679del:p.Tyr1227fs	coding	Pathogenic
8	99481712	TC	T	C99481714T	VPS13B	NM_152564.5(VPS13B):c.3782del:p.Pro1261fs	coding	Pathogenic/Likely_pathogenic
8	99501694	CTA	C	T99501697C	VPS13B	NM_152564.5(VPS13B):c.3881_3882del:p.Ile1294fs	coding	Pathogenic
8	99507844	G	GC	A99507846C	VPS13B	NM_017890.5(VPS13B):c.4233dup:p.Thr1412fs	coding	Pathogenic
8	99511049	T	TA	T99511050A	VPS13B	NM_152564.5(VPS13B):c.4225-55_4225-54insA	noncoding	Benign
8	99511137	CA	C	A99511138G	VPS13B	NM_152564.5(VPS13B):c.4259del:p.Gln1420fs	coding	Pathogenic/Likely_pathogenic
8	99511406	G	GAGGACCC	T99511415G	VPS13B	NM_152564.5(VPS13B):c.4529_4535dup:p.His1512fs	coding	Pathogenic
8	99511526	A	AT	G99511535T	VPS13B	NM_152564.5(VPS13B):c.4633+22dup	noncoding	Benign
8	99511526	AT	A	T99511534G	VPS13B	NM_152564.5(VPS13B):c.4633+22del	noncoding	Benign
8	99556885	G	GA	G99556895A	VPS13B	NM_152564.5(VPS13B):c.4949+241dup	noncoding	Benign
8	99575704	AC	A	C99575705A	VPS13B	NM_152564.5(VPS13B):c.4997del:p.Thr1666fs	coding	Pathogenic
8	99577566	T	TC	T99577567C	VPS13B	NM_152564.5(VPS13B):c.5153_5154insC:p.Gln1719fs	coding	Pathogenic
8	99641797	C	CT	C99641804T	VPS13B	NM_152564.5(VPS13B):c.5221-8dup	noncoding	Benign
8	99641848	A	AT	G99641850T	VPS13B	NM_152564.5(VPS13B):c.5259dup:p.Gly1754fs	coding	Pathogenic/Likely_pathogenic
8	99642128	CAA	C	A99642129G	VPS13B	NM_152564.5(VPS13B):c.5539_5540del:p.Lys1847fs	coding	Pathogenic
8	99642245	G	GA	T99642253A	VPS13B	NM_152564.5(VPS13B):c.5662dup:p.Ile1888fs	coding	Pathogenic
8	99642322	CTA	C	A99642324T	VPS13B	NM_152564.5(VPS13B):c.5734_5735del:p.Ile1912fs	coding	Pathogenic/Likely_pathogenic
8	99642359	CT	C	T99642361A	VPS13B	NM_152564.5(VPS13B):c.5771del:p.Leu1924fs	coding	Pathogenic
8	99642361	T	TA	C99642363A	VPS13B	NM_152564.5(VPS13B):c.5772dup:p.Gln1925fs	coding	Pathogenic/Likely_pathogenic
8	99642425	CAGAAA	C	A99642426G	VPS13B	NM_152564.5(VPS13B):c.5836_5840del:p.Arg1946fs	coding	Pathogenic
8	99661374	GA	G	A99661376G	VPS13B	NM_152564.5(VPS13B):c.5931del:p.Ala1978fs	coding	Pathogenic
8	99661380	C	CTT	G99661383T	VPS13B	NM_152564.5(VPS13B):c.5936_5937dup:p.Asp1980fs	coding	Pathogenic
8	99699594	AC	A	C99699596T	VPS13B	NM_152564.5(VPS13B):c.6118del:p.Leu2040fs	coding	Pathogenic
8	99699612	T	TA	T99699619A	VPS13B	NM_152564.5(VPS13B):c.6140dup:p.Asn2047fs	coding	Pathogenic
8	99699678	AGGATGATCTT	A	G99699679C	VPS13B	NM_152564.5(VPS13B):c.6201_6210del:p.Lys2067fs	coding	Pathogenic
8	99699764	C	CAAGAAAACATGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A99699781G	VPS13B	NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG:p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg	coding	Pathogenic
8	99699920	CA	C	A99699925G	VPS13B	NM_152564.5(VPS13B):c.6447del:p.Val2150fs	coding	Pathogenic
8	99699947	AG	A	G99699951A	VPS13B	NM_152564.5(VPS13B):c.6454+19del	noncoding	Benign
8	99717158	AT	A	T99717167C	VPS13B	NM_152564.5(VPS13B):c.6455-4del	noncoding	Benign
8	99717336	C	CA	T99717342A	VPS13B	NM_152564.5(VPS13B):c.6625dup:p.Ile2209fs	coding	Pathogenic
8	99766850	GC	G	C99766851A	VPS13B	NM_152564.5(VPS13B):c.7128del:p.Ser2376fs	coding	Pathogenic
8	99766855	GT	G	T99766858G	VPS13B	NM_152564.5(VPS13B):c.7135del:p.Cys2379fs	coding	Pathogenic
8	99776838	T	TAGGCA	G99776839A	VPS13B	NM_152564.5(VPS13B):c.7311_7312insAGGCA:p.Ala2438fs	coding	Pathogenic/Likely_pathogenic
8	99778985	AGCATGTAGTCCAT	A	G99778986T	VPS13B	NM_152564.5(VPS13B):c.7734_7746del:p.Gln2578fs	coding	Pathogenic
8	99779028	AC	A	C99779029A	VPS13B	NM_152564.5(VPS13B):c.7777del:p.Gln2593fs	coding	Pathogenic
8	99817582	C	CA	G99817586A	VPS13B	NM_152564.5(VPS13B):c.8143dup:p.Ser2715fs	coding	Pathogenic
8	99817646	A	AAC	T99817650C	VPS13B	NM_152564.5(VPS13B):c.8206_8207dup:p.Phe2737fs	coding	Pathogenic
8	99818517	CA	C	A99818519G	VPS13B	NM_152564.5(VPS13B):c.8430del:p.Val2811fs	coding	Pathogenic
8	99818703	AT	A	T99818708A	VPS13B	NM_152564.5(VPS13B):c.8446-5del	noncoding	Benign
8	99818725	CCT	C	C99818728T	VPS13B	NM_152564.5(VPS13B):c.8461_8462del:p.Leu2821fs	coding	Pathogenic
8	99818760	CAT	C	A99818761T	VPS13B	NM_152564.5(VPS13B):c.8494_8495del:p.Ile2832fs	coding	Pathogenic
8	99818761	AT	A	T99818763A	VPS13B	NM_152564.5(VPS13B):c.8496del:p.Ile2833fs	coding	Pathogenic
8	99818768	T	TACATTTGGAGAAAAGGAGTCTGGGATTGAGTGAA	C99818806T	VPS13B	NM_152564.5(VPS13B):c.8505_8538dup:p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer	coding	Pathogenic
8	99818823	AG	A	G99818826C	VPS13B	NM_152564.5(VPS13B):c.8559del:p.Gln2854fs	coding	Pathogenic/Likely_pathogenic
8	99819980	CAT	C	A99819983G	VPS13B	NM_152564.5(VPS13B):c.8855_8856del:p.Tyr2952fs	coding	Pathogenic
8	99819986	T	TTAGA	A99819991T	VPS13B	NM_152564.5(VPS13B):c.8859_8862dup:p.Thr2955Ter	coding	Pathogenic
8	99821049	T	TA	T99821063A	VPS13B	NM_152564.5(VPS13B):c.8995-232dup	noncoding	Benign
8	99821103	A	AAC	C99821168A	VPS13B	NM_152564.5(VPS13B):c.8995-190AC[33]	noncoding	Benign
8	99821103	AAC	A	A99821166C	VPS13B	NM_152564.5(VPS13B):c.8995-190AC[31]	noncoding	Benign
8	99821103	AACAC	A	A99821164C	VPS13B	NM_152564.5(VPS13B):c.8995-190AC[30]	noncoding	Benign
8	99821103	AACACAC	A	A99821162C	VPS13B	NM_152564.5(VPS13B):c.8995-190AC[29]	noncoding	Benign
8	99821103	AACACACAC	A	A99821160C	VPS13B	NM_152564.5(VPS13B):c.8995-190AC[28]	noncoding	Benign
8	99821103	AACACACACACACACACACACACACAC	A	A99821142C	VPS13B	NM_152564.5(VPS13B):c.8995-190AC[19]	noncoding	Benign
8	99832366	TAG	T	A99832367T	VPS13B	NM_152564.5(VPS13B):c.9331-2_9331-1del	noncoding	Benign/Likely_benign
8	99832574	C	CTATA	G99832579T	VPS13B	NM_152564.5(VPS13B):c.9537_9540dup:p.Val3181fs	coding	Pathogenic
8	99832595	CCAGA	C	C99832600G	VPS13B	NM_152564.5(VPS13B):c.9562_9565del:p.Gln3188fs	coding	Pathogenic/Likely_pathogenic
8	99832600	C	CA	G99832602A	VPS13B	NM_152564.5(VPS13B):c.9563dup:p.Ser3189fs	coding	Pathogenic
8	99835564	CA	C	A99835571T	VPS13B	NM_152564.5(VPS13B):c.9775del:p.Ile3259fs	coding	Pathogenic/Likely_pathogenic
8	99835637	ACCAAAGACTTACTTCCAAGC	A	C99835639T	VPS13B	NM_152564.5(VPS13B):c.9843_9862del:p.Lys3282fs	coding	Pathogenic
8	99835686	A	AACCTCTAG	G99835688C	VPS13B	NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA:p.Val3298fs	coding	Pathogenic
8	99848826	G	GTGTGGCACAGTCTTCATCAC	C99848853A	VPS13B	NM_152564.5(VPS13B):c.10000_10019dup:p.Pro3341fs	coding	Pathogenic
8	99848831	GCA	G	C99848834G	VPS13B	NM_152564.5(VPS13B):c.10001_10002del:p.Thr3334fs	coding	Pathogenic
8	99853553	ACT	A	T99853555A	VPS13B	NM_152564.5(VPS13B):c.10166_10167del:p.Leu3389fs	coding	Pathogenic/Likely_pathogenic
8	99853827	CTT	C	T99853829G	VPS13B	NM_152564.5(VPS13B):c.10440_10441del:p.Cys3481fs	coding	Pathogenic/Likely_pathogenic
8	99853942	CTTTG	C	T99853947A	VPS13B	NM_152564.5(VPS13B):c.10558_10561del:p.Phe3520fs	coding	Pathogenic/Likely_pathogenic
8	99853945	TG	T	G99853946T	VPS13B	NM_152564.5(VPS13B):c.10557del:p.Leu3519fs	coding	Pathogenic
8	99859368	CG	C	G99859372T	VPS13B	NM_152564.5(VPS13B):c.10936del:p.Val3646fs	coding	Pathogenic
8	99859408	AC	A	C99859411G	VPS13B	NM_152564.5(VPS13B):c.10975del:p.Arg3659fs	coding	Pathogenic
8	99859415	GC	G	C99859418T	VPS13B	NM_152564.5(VPS13B):c.10982del:p.Pro3661fs	coding	Pathogenic
8	99859523	C	CT	A99859539T	VPS13B	NM_152564.5(VPS13B):c.11044+58dup	noncoding	Benign
8	99859523	CT	C	T99859538A	VPS13B	NM_152564.5(VPS13B):c.11044+58del	noncoding	Benign
8	99861777	TA	T	A99861778C	VPS13B	NM_152564.5(VPS13B):c.11047del:p.Thr3683fs	coding	Pathogenic
8	99868308	TG	T	G99868309A	VPS13B	NM_152564.5(VPS13B):c.11236del:p.Asp3746fs	coding	Pathogenic/Likely_pathogenic
8	99868323	GA	G	A99868325C	VPS13B	NM_152564.5(VPS13B):c.11252del:p.Asn3751fs	coding	Pathogenic
8	99868332	GA	G	A99868336C	VPS13B	NM_152564.5(VPS13B):c.11263del:p.Thr3755fs	coding	Pathogenic/Likely_pathogenic
8	99870829	CATCAGCCAAGTGA	C	A99870830T	VPS13B	NM_152564.5(VPS13B):c.11438_11450del:p.His3813fs	coding	Pathogenic
8	99870862	CCAAA	C	A99870865G	VPS13B	NM_152564.5(VPS13B):c.11473_11476del:p.Asn3825fs	coding	Pathogenic
8	99871452	AT	A	T99871453G	VPS13B	NM_152564.5(VPS13B):c.11501del:p.Met3834fs	coding	Pathogenic/Likely_pathogenic
8	99871460	G	GTCTC	G99871466C	VPS13B	NM_152564.5(VPS13B):c.11510_11513dup:p.Gly3839fs	coding	Pathogenic/Likely_pathogenic
8	99871574	TGTCA	T	C99871577G	VPS13B	NM_152564.5(VPS13B):c.11625_11628del:p.Ser3876fs	coding	Pathogenic
8	99871651	TACTC	T	T99871654A	VPS13B	NM_152564.5(VPS13B):c.11702_11705del:p.Leu3901fs	coding	Pathogenic/Likely_pathogenic
8	99871675	C	CA	G99871678A	VPS13B	NM_152564.5(VPS13B):c.11725dup:p.Arg3909fs	coding	Pathogenic
8	99871676	AAG	A	A99871679T	VPS13B	NM_152564.5(VPS13B):c.11727_11728del:p.Arg3909fs	coding	Pathogenic
8	99871708	GA	G	A99871712C	VPS13B	NM_152564.5(VPS13B):c.11745+15del	noncoding	Benign
8	99875443	CAG	C	A99875446C	VPS13B	NM_152564.5(VPS13B):c.11774_11775del:p.Glu3925fs	coding	Pathogenic
8	99875472	T	TACATC	A99875481T	VPS13B	NM_152564.5(VPS13B):c.11804_11808dup:p.Lys3937fs	coding	Pathogenic
8	99875479	CA	C	A99875482G	VPS13B	NM_152564.5(VPS13B):c.11810del:p.Lys3937fs	coding	Pathogenic
8	99875501	CCCCAGCTGTT	C	C99875503T	VPS13B	NM_152564.5(VPS13B):c.11831_11840del:p.Pro3944fs	coding	Pathogenic/Likely_pathogenic
8	99875697	G	GTGAT	T99875703G	VPS13B	NM_152564.5(VPS13B):c.*33_*36dup	noncoding	Benign/Likely_benign
8	99875699	G	GGATT	A99875700G	VPS13B	NM_152564.5(VPS13B):c.*33_*34insGATT	noncoding	Benign
8	99875913	C	CCAA	G99875919A	VPS13B	NM_152564.5(VPS13B):c.*250_*252dup	noncoding	Benign/Likely_benign
8	100140756	C	CTGTTAAGA	C100140768T	FBXO43	NM_001029860.4(FBXO43):c.1490_1497dup:p.Glu500delinsSerTer	coding	Pathogenic
8	100142099	TC	T	C100142101G	FBXO43	NM_001029860.4(FBXO43):c.154del:p.Asp52fs	coding	Pathogenic
8	100183360	AT	A	T100183364A	SPAG1	NM_003114.5(SPAG1):c.427-11del	noncoding	Benign
8	100183849	GAATAT	G	A100183850G	SPAG1	NM_003114.5(SPAG1):c.489-106_489-102del	noncoding	Benign
8	100183858	TCCAAAGG	T	C100183860A	SPAG1	NM_003114.5(SPAG1):c.489-96_489-90del	noncoding	Benign
8	100184023	TC	T	C100184024A	SPAG1	NM_003114.5(SPAG1):c.557del:p.Ser186fs	coding	Pathogenic
8	100193990	C	CA	G100193999A	SPAG1	NM_003114.5(SPAG1):c.940-114dup	noncoding	Benign
8	100194180	GA	G	A100194184G	SPAG1	NM_003114.5(SPAG1):c.1012del:p.Arg338fs	coding	Pathogenic
8	100212893	AG	A	G100212898C	SPAG1	NM_003114.5(SPAG1):c.1097-192del	noncoding	Benign
8	100213013	C	CCCGCGGCCT	A100213039C	SPAG1	NM_003114.5(SPAG1):c.1097-76CCGCGGCCT[3]	noncoding	Benign
8	100213013	CCCGCGGCCT	C	C100213030A	SPAG1	NM_003114.5(SPAG1):c.1097-60_1097-52del	noncoding	Benign
8	100213102	CGGCGGGAGCCGCGCGCGCCGCCCAGCCGTGCGTCATG	C	G100213106A	SPAG1	NM_003114.5(SPAG1):c.1113_1149del:p.Gly372fs	coding	Pathogenic
8	100213110	GC	G	C100213112G	SPAG1	NM_003114.5(SPAG1):c.1119del:p.Ala374fs	coding	Pathogenic/Likely_pathogenic
8	100213267	C	CGGCGGCGGCG	C100213288G	SPAG1	NM_003114.5(SPAG1):c.1285_1294dup:p.Ala432fs	coding	Pathogenic
8	100213267	CGGCGGCGGCG	C	G100213278C	SPAG1	NM_003114.5(SPAG1):c.1285_1294del:p.Gly429fs	coding	Pathogenic
8	100231167	TTTAAAGCCCTTAAGGAAGA	T	T100231168A	SPAG1	NM_003114.5(SPAG1):c.1868_1886del:p.Thr622_Phe623insTer	coding	Pathogenic
8	100231350	TAA	T	A100231351G	SPAG1	NM_003114.5(SPAG1):c.1988+63_1988+64del	noncoding	Benign
8	100239257	AATTG	A	T100239260C	SPAG1	NM_003114.5(SPAG1):c.2136_2139del:p.Asp713fs	coding	Pathogenic
8	100239323	GGTAA	G	G100239324C	SPAG1	NM_003114.5(SPAG1):c.2200_2203del:p.Val734fs	coding	Pathogenic
8	101493429	CCCCTCCCCCGCCT	C	C101493440G	GRHL2	NM_024915.4(GRHL2):c.20+651_20+663del	noncoding	Benign
8	101570645	GA	G	A101570647C	GRHL2	NM_024915.4(GRHL2):c.734+253del	noncoding	Benign
8	101577181	C	CT	C101577192T	GRHL2	NM_024915.4(GRHL2):c.892-217dup	noncoding	Benign
8	101619714	GT	G	T101619720A	GRHL2	NM_024915.4(GRHL2):c.1257+23del	noncoding	Benign
8	101619883	A	AT	A101619902T	GRHL2	NM_024915.4(GRHL2):c.1257+204dup	noncoding	Benign
8	101619883	AT	A	T101619901A	GRHL2	NM_024915.4(GRHL2):c.1257+204del	noncoding	Benign
8	101636724	TACACAC	T	A101636761T	GRHL2	NM_024915.4(GRHL2):c.1486-172AC[18]	noncoding	Benign
8	101636724	TAC	T	A101636765T	GRHL2	NM_024915.4(GRHL2):c.1486-172AC[20]	noncoding	Benign
8	101636724	T	TACACAC	T101636767A	GRHL2	NM_024915.4(GRHL2):c.1486-172AC[24]	noncoding	Benign
8	101636724	T	TACAC	T101636767A	GRHL2	NM_024915.4(GRHL2):c.1486-172AC[23]	noncoding	Benign
8	101636724	T	TAC	T101636767A	GRHL2	NM_024915.4(GRHL2):c.1486-172AC[22]	noncoding	Benign
8	101664338	T	TGAA	G101664344A	GRHL2	NM_024915.4(GRHL2):c.1699-113_1699-111dup	noncoding	Benign
8	102212951	TAGAA	T	A102212955G	RRM2B	NM_015713.5(RRM2B):c.790-66_790-63del	noncoding	Benign
8	102213750	A	AC	A102213751C	RRM2B	NM_015713.5(RRM2B):c.789+303_789+304insG	noncoding	Benign
8	102225035	A	AATAGATAT	C102225046A	RRM2B	NM_015713.5(RRM2B):c.322-25_322-18dup	noncoding	Benign
8	102226308	TA	T	A102226310T	RRM2B	NM_015713.5(RRM2B):c.205-275del	noncoding	Benign
8	102226326	T	TTA	A102226345T	RRM2B	NM_015713.5(RRM2B):c.205-310TA[10]	noncoding	Benign
8	102231868	CA	C	A102231886G	RRM2B	NM_015713.5(RRM2B):c.204+280del	noncoding	Benign
8	102231868	C	CA	G102231887A	RRM2B	NM_015713.5(RRM2B):c.204+263dup	noncoding	Benign
8	102238952	G	GTGGTCCGC	G102238972T	RRM2B	Single_allele	noncoding	Benign
8	102239336	GCCCCATT	G	C102239337T	RRM2B	Single_allele	noncoding	Benign
8	102652082	T	TA	G102652084A	KLF10	NM_005655.4(KLF10):c.271-22dup	noncoding	Benign
8	102652470	A	AT	A102652491T	KLF10	NM_005655.4(KLF10):c.37-93dup	noncoding	Benign
8	102652470	A	ATT	A102652491T	KLF10	NM_005655.4(KLF10):c.37-93_37-92dup	noncoding	Benign
8	102652470	AT	A	T102652490A	KLF10	NM_005655.4(KLF10):c.37-74del	noncoding	Benign
8	103400246	CA	C	A103400248G	SLC25A32	NM_030780.5(SLC25A32):c.*164del	noncoding	Benign
8	103400556	G	GA	T103400562A	SLC25A32	NM_030780.5(SLC25A32):c.813-11dup	noncoding	Benign
8	103401307	T	TC	T103401308C	SLC25A32	NM_030780.5(SLC25A32):c.812+208_812+209insG	noncoding	Benign
8	103403409	T	TAA	G103403431A	SLC25A32	NM_030780.5(SLC25A32):c.392-106_392-105dup	noncoding	Benign
8	103403409	T	TA	G103403431A	SLC25A32	NM_030780.5(SLC25A32):c.392-106dup	noncoding	Benign
8	103414679	CG	C	G103414680C	SLC25A32	NM_030780.5(SLC25A32):c.154+104del	noncoding	Benign
8	104381288	A	AC	G104381290C	DPYS	NM_001385.3(DPYS):c.1469dup:p.Ala491fs	coding	Pathogenic
8	104392971	TGA	T	A104392973T	DPYS	NM_001385.3(DPYS):c.1254_1255del:p.His419fs	coding	Pathogenic
8	104466769	A	AC	G104466773C	DPYS	NM_001385.3(DPYS):c.151dup:p.Val51fs	coding	Pathogenic
8	104466819	TG	T	G104466820C	DPYS	NM_001385.3(DPYS):c.101del:p.Ala34fs	coding	Pathogenic
8	104466864	G	GA	G104466867A	DPYS	NM_001385.3(DPYS):c.56dup:p.Ser20fs	coding	Pathogenic
8	105318866	G	GGCGGCGGGA	C105318878G	ZFPM2	NM_012082.4(ZFPM2):c.-73_-65dup	noncoding	Benign
8	105798377	G	GAGGT	A105798384G	ZFPM2	NM_012082.4(ZFPM2):c.740-344_740-341dup	coding	Benign
8	105798739	G	GCAAGT	C105798746A	ZFPM2	NM_012082.4(ZFPM2):c.757_761dup:p.Cys255fs	coding	Pathogenic
8	105801475	T	TTTTC	A105801482T	ZFPM2	NM_012082.4(ZFPM2):c.1396_1399dup:p.Tyr467fs	coding	Pathogenic
8	107264365	GA	G	A107264373G	ANGPT1	NM_001146.5(ANGPT1):c.1206-15del	noncoding	Benign
8	107264365	G	GA	G107264374A	ANGPT1	NM_001146.5(ANGPT1):c.1206-22dup	noncoding	Benign
8	107303227	CT	C	T107303229C	ANGPT1	NM_001146.5(ANGPT1):c.936+12del	noncoding	Benign
8	107303371	C	CAA	G107303387A	ANGPT1	NM_001146.5(ANGPT1):c.809-19_809-18dup	noncoding	Benign
8	107303371	C	CA	G107303387A	ANGPT1	NM_001146.5(ANGPT1):c.809-19dup	noncoding	Benign
8	107303577	AT	A	T107303582A	ANGPT1	NM_001146.5(ANGPT1):c.809-211del	noncoding	Benign
8	107322314	A	AT	A107322316T	ANGPT1	NM_001146.5(ANGPT1):c.576-187dup	noncoding	Benign
8	107901346	GAAT	G	A107901356T	RSPO2	NM_178565.5(RSPO2):c.617-168ATT[3]	noncoding	Benign
8	107958036	T	TCA	G107958039C	RSPO2	NM_178565.5(RSPO2):c.616+42_616+43dup	noncoding	Benign
8	115414507	A	ACCTC	G115414509C	TRPS1	NM_014112.5(TRPS1):c.3400_3401insGAGG:p.Val1134fs	coding	Pathogenic
8	115414632	ATTTGGGTG	A	G115414636C	TRPS1	NM_014112.5(TRPS1):c.3268_3275del:p.His1090fs	coding	Pathogenic
8	115414659	CT	C	T115414663C	TRPS1	NM_014112.5(TRPS1):c.3248del:p.Lys1083fs	coding	Pathogenic
8	115414976	TGTTGA	T	T115414978C	TRPS1	NM_014112.5(TRPS1):c.2927_2931del:p.Leu976fs	coding	Pathogenic
8	115415078	TG	T	G115415081A	TRPS1	NM_014112.5(TRPS1):c.2829del:p.Arg944fs	coding	Pathogenic
8	115418394	CAG	C	A115418401G	TRPS1	NM_014112.5(TRPS1):c.2757_2758del:p.Trp920fs	coding	Pathogenic
8	115418459	CAG	C	A115418460G	TRPS1	NM_014112.5(TRPS1):c.2701-9_2701-8del	noncoding	Benign/Likely_benign
8	115587181	TAG	T	A115587184T	TRPS1	NM_014112.5(TRPS1):c.2518_2519del:p.Leu840fs	coding	Pathogenic
8	115587220	C	CA	G115587222A	TRPS1	NM_014112.5(TRPS1):c.2480dup:p.Thr828fs	coding	Pathogenic
8	115587255	T	TC	G115587261C	TRPS1	NM_014112.5(TRPS1):c.2445dup:p.Ser816fs	coding	Pathogenic
8	115587399	TAG	T	A115587402T	TRPS1	NM_014112.5(TRPS1):c.2300_2301del:p.Asp766_Ser767insTer	coding	Pathogenic
8	115587833	GACAC	G	A115587852G	TRPS1	NM_014112.5(TRPS1):c.2097-251GT[9]	noncoding	Benign
8	115587833	GAC	G	A115587854G	TRPS1	NM_014112.5(TRPS1):c.2097-251GT[10]	noncoding	Benign
8	115603878	G	GT	G115603880T	TRPS1	NM_014112.5(TRPS1):c.2090dup:p.His697fs	coding	Pathogenic
8	115604057	CA	C	A115604058G	TRPS1	NM_014112.5(TRPS1):c.1911del:p.Asp638fs	coding	Pathogenic
8	115604319	G	GCCAT	G115604324C	TRPS1	NM_014112.5(TRPS1):c.1646_1649dup:p.Pro551fs	coding	Pathogenic
8	115604463	AC	A	C115604464T	TRPS1	NM_014112.5(TRPS1):c.1505del:p.Ser502fs	coding	Pathogenic
8	115604566	TA	T	A115604568T	TRPS1	NM_014112.5(TRPS1):c.1402del:p.Tyr468fs	coding	Pathogenic
8	115619482	C	CATCT	G115619487A	TRPS1	NM_014112.5(TRPS1):c.612_615dup:p.Gly206fs	coding	Pathogenic
8	115619501	GT	G	T115619507G	TRPS1	NM_014112.5(TRPS1):c.596del:p.Asn199fs	coding	Pathogenic
8	115620182	GAA	G	A115620194C	TRPS1	NM_014112.5(TRPS1):c.38-124_38-123del	noncoding	Benign
8	116848746	AAACTTAAACTATAATAAAAAAAAAAAAGAAAAGAAAACTCTCCCTCCAGAAAAAATAAATAAATAAATAAAAATGTAGTTTTGGAAAAAGTTTGACAAAGGTATGCTTTCTGTTTCCAGCATCTAACTTTTTTTTTTTCAGGGAACAATGGCAAAAGCCTTTGATGAAGCATTTTCCTCTGAGACAACAGCGGCAATACCTGAAGACCATGAAGCATCTGCTGAGTCCTTTTGTTCCATCTTCTTTCTTCCTGATCTTGATCGCCCCCTGATGCATCTTCATCCTGAATAAAAATGACCCCCAAAAAGCTGACAAAACAAGTCCAATGAAAAATGAAGTATTTCTACATCTCCTAAAAGCTCCTAAATTACCTTGAGATTGTGTATTTTGAACTAATAGAAAACTGTACTTAATGCTGCTGAGCAATCACTTAGCATTTAGAGTACAAACTGAAGAGTCTGTTTTTCTTAAATTACAAGGCAAAGTCCTCTATGTGCAAGCAAACATTTGGCTGAAAGTATGCTTCTATATTGCGCTATAAGGATGCTATCTACACACACTATGTGGTCTGTGGACTGCTGCTGATCATGGAGGTTTTGGTTACTGGCCCCTCTTAAAGAACTTCAGGATATAAATCAACTGTACCACTAAATATACTGTTTATTTC	A	T116848751A	RAD21	NM_006265.3(RAD21):c.1621-384_1704+199del	noncoding	Pathogenic
8	116848761	T	TAA	G116848774A	RAD21	NM_006265.3(RAD21):c.1704+173_1704+174dup	noncoding	Benign
8	116848761	T	TA	G116848774A	RAD21	NM_006265.3(RAD21):c.1704+173dup	noncoding	Benign
8	116850304	G	GT	A116850306T	RAD21	NM_006265.3(RAD21):c.1620+313dup	noncoding	Benign
8	116852713	T	TA	G116852728A	RAD21	NM_006265.3(RAD21):c.1162-19dup	noncoding	Benign
8	116854125	AAAG	A	G116854128A	RAD21	NM_006265.3(RAD21):c.1161+117_1161+119del	noncoding	Benign
8	116854459	GTTTC	G	C116854463A	RAD21	NM_006265.3(RAD21):c.943_946del:p.Glu315fs	coding	Pathogenic
8	116855998	G	GC	T116856000C	RAD21	NM_006265.3(RAD21):c.937+167dup	noncoding	Benign
8	116856292	TAA	T	A116856314G	RAD21	NM_006265.3(RAD21):c.815-6_815-5del	noncoding	Benign
8	116856292	TA	T	A116856315G	RAD21	NM_006265.3(RAD21):c.815-5del	noncoding	Benign/Likely_benign
8	116856585	G	GT	A116856587T	RAD21	NM_006265.3(RAD21):c.814+60dup	noncoding	Benign
8	116856755	AC	A	C116856756T	RAD21	NM_006265.3(RAD21):c.704del:p.Ser235fs	coding	Pathogenic
8	116857002	AT	A	T116857006A	RAD21	NM_006265.3(RAD21):c.689-232del	noncoding	Benign
8	116857361	G	GC	T116857363C	RAD21	NM_006265.3(RAD21):c.593dup:p.Ser198fs	coding	Pathogenic
8	116857612	AAACTTT	A	C116857615T	RAD21	NM_006265.3(RAD21):c.482-145_482-140del	noncoding	Benign
8	116863092	A	AAAC	A116863107C	RAD21	NM_006265.3(RAD21):c.274+26GTT[5]	noncoding	Benign
8	116863092	A	AAACAAC	A116863107C	RAD21	NM_006265.3(RAD21):c.274+26GTT[6]	noncoding	Benign
8	116866645	T	AGG	T116866645A	RAD21	NM_006265.3(RAD21):c.85delinsCCT:p.Lys29fs	coding	Pathogenic
8	116866662	CAATGGGCCGCTAGCCA	C	G116866666T	RAD21	NM_006265.3(RAD21):c.52_67del:p.Trp18fs	coding	Pathogenic
8	116866681	TTTTG	T	T116866682G	RAD21	NM_006265.3(RAD21):c.45_48del:p.Lys16fs	coding	Pathogenic
8	116866771	GA	G	A116866779G	RAD21	NM_006265.3(RAD21):c.-32-11del	noncoding	Benign
8	116866869	A	AT	A116866870T	RAD21	NM_006265.3(RAD21):c.-32-109_-32-108insA	noncoding	Benign
8	117799413	AGTTTAAACCTGCATAGCAATCATTTCAAAAATAATTATTTAATGTTCCATAATTAAACTGTACACAACCTAGTCTTGGGACACAGAAGCCAGTGAGGTGAGTTTGGAGCAGTCTGGTGCAGTCCCAGGAGCCAGGAGTTGAGTTCTCATTGGCCTTTTTTTTTTTGTCATTCTGCTCATCTAAGTTTTTGGATAGTTGGCACAATCTGGCTCTGCTGATGAGTGGATCTGCACTGGGAAGAGAGAGCAGCTTGACCCCCATCCCTTCTTGCTTCCCCTCCCCCACTCAGCCGGATTCCTCAAAGTCGCTCAATGTCTCGGTATTTCTTCCTCAAAATAGAGACCTGGTCTTTAAAGAGGACGGGGTCGAGCCTCATCTGAGAGTGGATCAGCGGCATGTAGCCAAACCAGCTGGCAAACGTATTCATGCAGCTCTGTCGCTGGGCAAAGTGGTCAGGGTCAGCCCAACGGGAAGCCCGAGAAGTCTAGGGAGAAGGAGAGAAACAAGGATAATGATGAGAGAAGTGCAAGGTGAGATGGAAACATTGCAGAAAATGGAGTCAGGCAAATGAGCAAGCAGCAAAGCTTGGGGTCTGGCCCGGCCACCAAGTCTCACCATCTATGCACCTGCTGAAAATGCAATCGCTGATATTGGTTTTTCCCAAGGTATGCTACGTTCCTCAGTGTTAAAAACACAAAAACAAAGATTCATGTTGACTTTAATTCTCTAAAATTTATTGACTAATTCTCTGGTCAGTCCACGACTTAGCAACTGAAACTCGACTACTACAGTGACTCAATCTAAAACCTCTCTTTGCACTTGGGACCAAGTACTAAGATTAAAGATGTGTTTCTGCTTTCAAAGAGTTTTCTAAATCCTTCCTGTTTATGTAGTTGATTTAGAAATACCCACCAACTTTTAGAAGTCTATCTTTCTCTCTATCCATCACTTCCTTCCTTCTACTATCTCTTTACCTTTATAAGGGTCCTACTAAATCCTTTGTTAAAAATTCACATATATAGTTGAAGAAGAACAAAATAGTGCCTTTTACATGTCACTCAAGGCTAGTGTTACGCAGCATCTAAAACTCCGTTTTCTCTTCTGTAGCCTCCCCATTGACGTGACTCCATGAGGATGAGAAGGTGAGATTCAGTGGTATATAGAGCATGTTGCTGTATGACTAACTTTATACTAAAATCTCAAAATTCTGTTCTTCTCTTAACCCAAGAATTGTTGGCTTTCCTGCTTGACTAAAACCCCCAAAGGTTACTTTTTAAAGGGCAATCAGCCCTCCAAAGAATCACTGCTCACCCAGAATAAAGATTAACTCTCGACAAATAGAAAAGATGGCTACCATGTTTTTAGCTCTCTGTGTTGCCCCTAAAGTTGGTTAAATATTTTTAGATCATGCAAATGATTGGCATTGATTTAAAAAGAATGCCTTAATGACTGGAGTGCTGAAATTTAAATAGAATGACTAAGCACATTGTCTTTCAATCCCTGTTTTTATGAAACATGGAAAAGATGGGCTGCCCAATTATGGGGGAACCCCCACAAGCCCATTTATGTCAATAGGCAAGTCTTTAATGATGTATATGTATGCACGTGTGTTCTGTGTATTTGTTGTACTCACAGTTTTAGAAAAATACTTTCATGGGAAGATACATTTTAGTGTGAGAAGCAGTAAGAGTCACTTCAGAATCATAGTGTCAACATGCTCGAAAATAACATTGAAGATAAACACAAATGTCAAGTTACCTCTGAACAGCAGAATAACAAACAAAACACTATTTGTAAAGTGTTTTCATGGAGTTCATTTGAATCTCACCACAATCTGGTGAAGTATCTACCCAGGTAATAACATCCCCATTTTATAGCTGAGGAAGCAAGTTTAAGAAAGTTAGAGTTATTTGTTCAAGGCTAGAGAGGGGCAGAACTCAAGCTTCATTCTTCAGCCTTTATATGAGGGGAACTCTACTTGATAAATCAGAGAAAGATATCAAATGGAGCTGACTGGTTGAGTTCATATCAGAGTAGACAATCCCAAATGTAACTTGTTTTGACCCTAAATGGATATGAGTTTGTGGGCCATTTTTTTTTCTTTTTTTTAAAGGCAGAGTCTCACTCTGTCACGCAGGCTGGAGTGCGGTGGCATGATCTTGGCTCACTGCAACCTCCACCACATGGGTTCAAGTGATTCTTGTGTCTCAGCCTCCCAAGTATCTGGGATTACAGGTGCACACCACCATGCATGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATTTTGCCCAGGCTGGTCCTGAACTCCTGAGCTCAAGCAATCCACCTGCTCTGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTGTGGGCCATTTTTGATTGGCCCACTCATTCCCAAAGGGTGCTGTACCCAGGCAAAATACTCATATATGCAACTAGAAATACTGTCTAGAGTTTACACTCATTCCTATTCAAAAAATTTTTTTTAAAGTTCAGTTGAATCATTCAGGTATCGTTTTGCTTCTAGATGTTAACATTTATTCTGAGTCAACCAACATCTATTAGAAAAGATGCCTTTCTTATGTAATAAAAGCCTAATCCTAGAGGATGATATCTATTTACTTTACCGGTCATACAAACATTCAATAAATTAATGTGTATGATGGAAAGAAGGGGGCAAATATAGTACCTGAATACACCTAGTTAGACCTAAGGTTAAATTTAGATTTTTTTGTTAAAGATGTATGAATTACTAGAAATACTGTTTGGTAGAATTAGGCTAATCTATGAAAATAGCACAAATCCACCCCCTAAGAGGCCTTGTATGACTAGAATTCCCCACTTAGTGAGTGTTCTGAAGAACTCTGAGTAAAAAAATATTTTTAAAATGTCATGTCCTTAAATGAGATAATATACAGTCATGCACCACATAATGACATTTCAATCAATGTTGGATCACATAGATGACTATTGTCCCATATACTGTAATACCATATTTTTATTGTACCTTTTCTGTATTTAGAAATGTTTAGATACACAAATATTTATCACTGTGTTACAACTGCCTACAGTATTCAGTACAGTGACATGCTATATATGTTATAGCCTAGGAGCAATAGGCTATAGTAGGCTGTACCATATAGGGCTGTGTAAGTACACTTGATAATGTTTGGATAATGACAAGATCACCAAATGATGCATTTCTCAGAATGTATCCTCATTCTTAAGAGATAAATAAAAAATATAAATAAAAATGTTTGGGCACATAATAGACAATACATCTTGCTTGAATTCGAATATTCTCTCAGCCTTAAAAATTTTTACAAATCCTCTTATCTGTTCTTTCTGTAATTAGAAGGAAACAGAATTTTCTGCCAGACTCTTTGCTAAGGACAGCTCTTTCATCATAACCAATACCTAGAACAGTGCCTGGTAACATGCTCACTAAGTACTAAATAACTTTTTATAAACTTTAAATTCTTTATAAACTTTAAATTTTTGCTTACTAAATTTAGTGAATGAAAAACTATCAGCTTAACATGAGGCCTAGCTAAGATTTCCTTTGCAAAAGCTAGATTTGTATATGTTTTCCAATGCCTGTGAGAACAAGGCACATGCAAAGCCCCTCAAAATTGAACTAATATAACCATGTTAAAGTATGTTCATTCAGATTAACCTCAATCCTGTTGGATGCTCCATGATTTAACGTGAGTGAATCTTAATGCTCTTTCTTAAGGTTTTTTGTTTCTTTTTTCTTTTTCTTTTTTTTTGAGACAGAGCCTTGTTCTGTCACCCAGCCTGAAGTGCAGTGGCATGATCTCAACCCACTGCAACCTCTGCCTTCCAGTTTCAAGCAATTCTCGTGCCTCAGCCACCCGAGTAAGCTGGGATTACAAGCGTGCACCACTATGACCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCGACATGTTGGCAAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAATGCTGGGATTATCAGTATGAGCCACTGTGCCTGGCTAAGATTTTTGATTTCTTACATATAGTAGGGGCTCTGCTCAAGATGAATAAAGATAGATGAAATTCGGCATATCCAGGTGGACCTGATACCAAGATGGTGGGGTGTACAAGGACAAGCAGTGAAGTCCACAGACCCTGGGATTCAATTCCCAATTCTGTCTCTAACTTACTGGGCAACTTGTGGCAATATGCTTAAATTCACTAGGTCCTAGTTTTCTTACTTATAAAAAGAAAATGTTGGATTCTATTTCCTTGAAAATACCTTTAATACTAAAATTGTATAACTCAACACAATATTTTACTTCACTTTTATAAAAGCTTTCAAACATATTATTTCAACCCTGTAAGGTAGATTTCACCATTTCCATGTTAAAGATGAGCCAACTGAGTTTCAGAAGGTTACTGACTTGCCTGTATTTTAAATCCTGATTCTAGAACTGAAAATTAAATATTGTGATTCCTGTTATGTCACCAAGACACAATTCAACTCAACTGCAAGCACCAGAAAACTGTGTTAAAGAGAGTATGGTTTGCTAGACATTAAATAAGGTACCTACAATCAACTTTCATAAGTTATTTGTAGGGCTTTAATTCTGCTGAGGGCTGAATGTTTGTGCCCCCTAATATTTATATGTTGAAGCTTAATTCTTAATGTGATGATATTTGCAGGTGAGGTCTCTGTGGGATGATTAGGTCATGAGGGTGGAGTCCTCACAAATGGGAGCAGTGCTCTTATAAAAAGGACCCTAGAGAACTCTCTTGCCCTTCTTTCTGCCATGTGAAGACACAATGAGCAGAGGGCTATCTATGAATCAGGAAACAGTCTCTTGTCAGGCACCAAATCTGCTGGTGCCTTGATCTGGGACTCTCCAGCCTCTAGAACTATGAAAAATAAATGTCTGTTATTTAAGTCACCCAGTCAATGGTATTTTTGTCATAGCAGCCCAAATGGACTAAGACAAACTCTAAAGACATATCTTTCTCATGTCACCTTAAAGATTATAGGAGAGCTTTACATCCTTGGCATAAAGATACTCTTAACTTGTGTCTTCCTAATTATCCCTGCACCAATCATACACTCTTTTCTAGCTTTCAGATGTAGTTCATTCCTGGTTTCTCCTCATTATATGCTCCTGGGTGGAACAGCTAGAGGAACGTGAGTCCTCATTACCTGG	A	T117799415G	EXT1	NM_000127.3(EXT1):c.2055+52_*298del	noncoding	Pathogenic
8	117799567	CT	C	T117799578G	EXT1	NM_000127.3(EXT1):c.*144del	noncoding	Benign
8	117799821	CA	C	A117799822G	EXT1	NM_000127.3(EXT1):c.2131del:p.Trp711fs	coding	Pathogenic
8	117804778	A	AT	G117804783T	EXT1	NM_000127.3(EXT1):c.1998dup:p.Leu667fs	coding	Pathogenic
8	117804870	TG	T	G117804873A	EXT1	NM_000127.3(EXT1):c.1906del:p.His636fs	coding	Pathogenic
8	117807254	AG	A	G117807255T	EXT1	NM_000127.3(EXT1):c.1845del:p.Tyr616fs	coding	Pathogenic
8	117807320	CG	C	G117807324T	EXT1	NM_000127.3(EXT1):c.1779del:p.Ala594fs	coding	Pathogenic
8	117807337	C	CT	C117807339T	EXT1	NM_000127.3(EXT1):c.1762dup:p.Arg588fs	coding	Pathogenic
8	117812901	C	CA	G117812904A	EXT1	NM_000127.3(EXT1):c.1692dup:p.Asp565Ter	coding	Pathogenic
8	117812914	GGC	G	C117812916T	EXT1	NM_000127.3(EXT1):c.1678_1679del:p.Ala560fs	coding	Pathogenic
8	117812935	G	GT	A117812937T	EXT1	NM_000127.3(EXT1):c.1658dup:p.Tyr553Ter	coding	Pathogenic
8	117819576	CGGGGAGCCT	C	T117819585C	EXT1	NM_000127.3(EXT1):c.1536+91_1536+99del	noncoding	Benign
8	117819689	TG	T	G117819692A	EXT1	NM_000127.3(EXT1):c.1522del:p.Gln508fs	coding	Pathogenic
8	117822463	AC	A	C117822465T	EXT1	NM_000127.3(EXT1):c.1417+1del	noncoding	Pathogenic
8	117822493	TCCCAG	T	C117822494A	EXT1	NM_000127.3(EXT1):c.1384_1388del:p.Leu462fs	coding	Pathogenic
8	117822544	G	GTTCCATATTAAACTGTTACGTGA	A117822569T	EXT1	NM_000127.3(EXT1):c.1315_1337dup:p.Asn446_Lys447insHisValThrValTer	coding	Pathogenic/Likely_pathogenic
8	117822577	G	GAA	T117822580A	EXT1	NM_000127.3(EXT1):c.1303_1304dup:p.Lys436fs	coding	Pathogenic
8	117822584	CTGTCCTGA	C	T117822585A	EXT1	NM_000127.3(EXT1):c.1290_1297del:p.Ile430fs	coding	Pathogenic
8	117830296	CT	C	T117830297G	EXT1	NM_000127.3(EXT1):c.1217del:p.Gln406fs	coding	Pathogenic
8	117830320	CT	C	T117830321G	EXT1	NM_000127.3(EXT1):c.1193del:p.Gln398fs	coding	Pathogenic
8	117835481	TG	T	G117835483T	EXT1	NM_000127.3(EXT1):c.1126del:p.Gln376fs	coding	Pathogenic
8	117835531	C	CA	T117835533A	EXT1	NM_000127.3(EXT1):c.1076dup:p.Met359fs	coding	Pathogenic
8	117835534	C	CA	C117835536A	EXT1	NM_000127.3(EXT1):c.1073dup:p.Met359fs	coding	Pathogenic
8	117835557	C	CA	G117835564A	EXT1	NM_000127.3(EXT1):c.1057-12dup	noncoding	Benign
8	117837111	C	CA	G117837115A	EXT1	NM_000127.3(EXT1):c.1052dup:p.Leu351fs	coding	Pathogenic
8	118109685	TCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGA	T	G118109691C	EXT1	NM_000127.3(EXT1):c.540_962+399del	noncoding	Pathogenic
8	118110006	AT	A	T118110007C	EXT1	NM_000127.3(EXT1):c.962+78del	noncoding	Benign
8	118110139	TC	T	C118110140T	EXT1	NM_000127.3(EXT1):c.907del:p.Asp303fs	coding	Pathogenic
8	118110209	T	TG	T118110212G	EXT1	NM_000127.3(EXT1):c.837dup:p.Arg280fs	coding	Pathogenic
8	118110259	AT	A	T118110260G	EXT1	NM_000127.3(EXT1):c.787del:p.Met263fs	coding	Pathogenic
8	118110269	TGAGAG	T	A118110273G	EXT1	NM_000127.3(EXT1):c.773_777del:p.Pro258fs	coding	Pathogenic
8	118110276	AG	A	G118110279A	EXT1	NM_000127.3(EXT1):c.770del:p.Pro257fs	coding	Pathogenic
8	118110294	CA	C	A118110299C	EXT1	NM_000127.3(EXT1):c.752del:p.Phe250_Leu251insTer	coding	Pathogenic
8	118110299	AC	A	C118110304T	EXT1	NM_000127.3(EXT1):c.747del:p.Phe250_Leu251insTer	coding	Pathogenic
8	118110327	AT	A	T118110328C	EXT1	NM_000127.3(EXT1):c.719del:p.Asp240fs	coding	Pathogenic
8	118110333	AG	A	G118110334A	EXT1	NM_000127.3(EXT1):c.713del:p.Ser238fs	coding	Pathogenic
8	118110334	GAA	G	A118110337G	EXT1	NM_000127.3(EXT1):c.711_712del:p.Phe237_Ser238insTer	coding	Pathogenic
8	118110392	CTTTGGCCAGCA	C	T118110394C	EXT1	NM_000127.3(EXT1):c.644_654del:p.Met215fs	coding	Pathogenic
8	118110488	CAT	C	A118110489T	EXT1	NM_000127.3(EXT1):c.557_558del:p.Asn186fs	coding	Pathogenic
8	118110559	C	CTT	G118110561T	EXT1	NM_000127.3(EXT1):c.487_488insAA:p.Arg163fs	coding	Pathogenic
8	118110584	CAA	C	A118110586G	EXT1	NM_000127.3(EXT1):c.461_462del:p.Phe154fs	coding	Pathogenic
8	118110611	AG	A	G118110613T	EXT1	NM_000127.3(EXT1):c.435del:p.Ser146fs	coding	Pathogenic
8	118110627	G	GCCCT	G118110633C	EXT1	NM_000127.3(EXT1):c.416_419dup:p.Ser141fs	coding	Pathogenic
8	118110630	CT	C	T118110631C	EXT1	NM_000127.3(EXT1):c.416del:p.Glu139fs	coding	Pathogenic
8	118110654	G	GT	A118110656T	EXT1	NM_000127.3(EXT1):c.392dup:p.Tyr131Ter	coding	Pathogenic
8	118110673	T	TC	T118110678C	EXT1	NM_000127.3(EXT1):c.373dup:p.Glu125fs	coding	Pathogenic
8	118110676	CCT	C	C118110677T	EXT1	NM_000127.3(EXT1):c.369_370del:p.Lys126fs	coding	Pathogenic
8	118110716	T	TACGTAGA	C118110717A	EXT1	NM_000127.3(EXT1):c.330_331insTCTACGT:p.Lys111delinsSerThrTer	coding	Pathogenic
8	118110753	GC	G	C118110754A	EXT1	NM_000127.3(EXT1):c.293del:p.Cys98fs	coding	Pathogenic
8	118110756	C	CTTCT	G118110762T	EXT1	NM_000127.3(EXT1):c.287_290dup:p.Cys98fs	coding	Pathogenic
8	118110982	TAAAAC	T	C118110987G	EXT1	NM_000127.3(EXT1):c.60_64del:p.Tyr22fs	coding	Pathogenic
8	118111000	CAA	C	A118111001G	EXT1	NM_000127.3(EXT1):c.45_46del:p.Cys16fs	coding	Pathogenic
8	118111031	G	GT	G118111038T	EXT1	NM_000127.3(EXT1):c.15dup:p.Arg6fs	coding	Pathogenic
8	118924611	GTCA	AAG	G118924611A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.966_969delinsCTT:p.Asp323fs	coding	Pathogenic
8	118932661	T	TA	C118932677A	TNFRSF11B	NM_002546.4(TNFRSF11B):c.400+255dup	noncoding	Benign
8	118951520	TTC	T	T118951539C	TNFRSF11B	NM_002546.4(TNFRSF11B):c.30+252GA[9]	noncoding	Benign
8	119067400	CCA	C	C119067409A	COLEC10	NM_006438.5(COLEC10):c.128_129del:p.Thr43fs	coding	Pathogenic
8	119778138	G	GA	G119778147A	TAF2	NM_003184.4(TAF2):c.2254-17dup	noncoding	Benign
8	119788452	TA	T	A119788462C	TAF2	NM_003184.4(TAF2):c.1684-6del	noncoding	Benign
8	119788452	T	TA	C119788463A	TAF2	NM_003184.4(TAF2):c.1684-15dup	noncoding	Benign
8	120162322	AT	A	T120162323G	COL14A1	NM_021110.4(COL14A1):c.206-103del	noncoding	Benign
8	120226304	AT	A	T120226307A	COL14A1	NM_021110.4(COL14A1):c.1865-320del	noncoding	Benign
8	120243683	TGATTATA	T	G120243684A	COL14A1	NM_021110.4(COL14A1):c.2350-195_2350-189del	noncoding	Benign
8	120247429	G	GAA	T120247441A	COL14A1	NM_021110.4(COL14A1):c.2480-174_2480-173dup	noncoding	Benign
8	120247429	G	GA	T120247441A	COL14A1	NM_021110.4(COL14A1):c.2480-173dup	noncoding	Benign
8	120280903	CTT	C	T120280917A	COL14A1	NM_021110.4(COL14A1):c.3686-4_3686-3del	noncoding	Benign
8	120316144	A	AT	C120316145T	COL14A1	NM_021110.4(COL14A1):c.4659+147_4659+148insT	noncoding	Benign
8	124546741	AG	A	G124546745A	NDUFB9	NM_005005.3(NDUFB9):c.295-255del	noncoding	Benign
8	125057778	G	GCAACAACCACCGAATCTCATCAATAT	T125057781A	WASHC5	NM_014846.4(WASHC5):c.1765-113_1765-112insTGATATTGATGAGATTCGGTGGTTGT	noncoding	Benign
8	125063749	TAAG	T	A125063753C	WASHC5	NM_014846.4(WASHC5):c.1279-101_1279-99del	noncoding	Benign
8	125075417	CT	C	T125075424A	WASHC5	NM_014846.4(WASHC5):c.865-307del	noncoding	Benign
8	125076744	TA	T	A125076761G	WASHC5	NM_014846.4(WASHC5):c.712-245del	noncoding	Benign
8	125076744	T	TAAAAAAAAAAAAAA	G125076762A	WASHC5	NM_014846.4(WASHC5):c.712-261_712-248dup	noncoding	Benign
8	125076744	T	TAAAAAAAAAAAAA	G125076762A	WASHC5	NM_014846.4(WASHC5):c.712-261_712-249dup	noncoding	Benign
8	125079090	ATG	A	G125079094A	WASHC5	NM_014846.4(WASHC5):c.519-162_519-161del	noncoding	Benign
8	125079116	G	GTA	C125079141T	WASHC5	NM_014846.4(WASHC5):c.519-210TA[13]	noncoding	Benign
8	125079116	G	GTATA	C125079141T	WASHC5	NM_014846.4(WASHC5):c.519-210TA[14]	noncoding	Benign
8	125079116	G	GTATATA	C125079141T	WASHC5	NM_014846.4(WASHC5):c.519-210TA[15]	noncoding	Benign
8	125079116	G	GTATATATATA	C125079141T	WASHC5	NM_014846.4(WASHC5):c.519-210TA[17]	noncoding	Benign
8	125079116	GTATA	G	T125079137C	WASHC5	NM_014846.4(WASHC5):c.519-210TA[10]	noncoding	Benign
8	125079135	T	TATATATATATAC	C125079141T	WASHC5	NM_014846.4(WASHC5):c.519-206_519-205insTATATGTATATA	noncoding	Benign
8	125079141	CA	C	A125079142T	WASHC5	NM_014846.4(WASHC5):c.519-212del	noncoding	Benign
8	125151154	A	AT	C125151164T	NSMCE2	NM_173685.4(NSMCE2):c.158-8dup	noncoding	Benign
8	132130000	G	GA	T132130005A	KCNQ3	NM_004519.4(KCNQ3):c.1885-5dup	noncoding	Benign/Likely_benign
8	132132168	GA	G	A132132172G	KCNQ3	NM_004519.4(KCNQ3):c.1884+11del	noncoding	Benign
8	132134551	TGAGGA	T	A132134561G	KCNQ3	NM_004519.4(KCNQ3):c.1701-168_1701-164del	noncoding	Benign
8	132137899	C	CT	A132137903T	KCNQ3	NM_004519.4(KCNQ3):c.1685dup:p.Tyr563fs	coding	Pathogenic
8	132137985	AT	A	T132137994A	KCNQ3	NM_004519.4(KCNQ3):c.1599del:p.Lys533fs	coding	Pathogenic
8	132141170	GC	G	C132141172G	KCNQ3	NM_004519.4(KCNQ3):c.1423del:p.Ala475fs	coding	Pathogenic
8	132163513	G	GA	T132163520A	KCNQ3	NM_004519.4(KCNQ3):c.1236-20dup	noncoding	Benign
8	132170445	AG	A	G132170449C	KCNQ3	NM_004519.4(KCNQ3):c.1141-18del	noncoding	Benign
8	132172397	TACAC	T	C132172433G	KCNQ3	NM_004519.4(KCNQ3):c.1140+163GT[17]	noncoding	Benign
8	132172397	TAC	T	C132172435G	KCNQ3	NM_004519.4(KCNQ3):c.1140+163GT[18]	noncoding	Benign
8	132172397	T	TACACACAC	G132172437C	KCNQ3	NM_004519.4(KCNQ3):c.1140+163GT[23]	noncoding	Benign
8	132172397	T	TACAC	G132172437C	KCNQ3	NM_004519.4(KCNQ3):c.1140+163GT[21]	noncoding	Benign
8	132172397	T	TAC	G132172437C	KCNQ3	NM_004519.4(KCNQ3):c.1140+163GT[20]	noncoding	Benign
8	132446958	G	GA	T132446963A	KCNQ3	NM_004519.4(KCNQ3):c.386+33185dup	noncoding	Benign
8	132479949	A	AACACAC	C132479994A	KCNQ3	NM_004519.4(KCNQ3):c.386+154GT[25]	noncoding	Benign
8	132479949	A	AACAC	C132479994A	KCNQ3	NM_004519.4(KCNQ3):c.386+154GT[24]	noncoding	Benign
8	132479949	A	AAC	C132479994A	KCNQ3	NM_004519.4(KCNQ3):c.386+154GT[23]	noncoding	Benign
8	132479949	AAC	A	A132479992C	KCNQ3	NM_004519.4(KCNQ3):c.386+154GT[21]	noncoding	Benign
8	132479949	AACACAC	A	A132479988C	KCNQ3	NM_004519.4(KCNQ3):c.386+154GT[19]	noncoding	Benign
8	132479949	AACACACAC	A	A132479986C	KCNQ3	NM_004519.4(KCNQ3):c.386+154GT[18]	noncoding	Benign
8	132572685	T	TA	G132572702A	DNAAF11	NM_012472.6(DNAAF11):c.1227-221dup	noncoding	Benign
8	132583777	TA	T	A132583778C	DNAAF11	NM_012472.6(DNAAF11):c.1142del:p.Val381fs	noncoding	Pathogenic
8	132625382	GTT	G	T132625383G	DNAAF11	NM_012472.6(DNAAF11):c.724_725del:p.Asn242fs	coding	Pathogenic
8	132632942	CT	AC	C132632942A	DNAAF11	NM_012472.6(DNAAF11):c.450_451delinsGT:p.Ile150_Glu151delinsMetTer	coding	Pathogenic
8	132656934	ATAAT	A	T132656939C	DNAAF11	NM_012472.6(DNAAF11):c.179-31_179-28del	noncoding	Benign
8	132881872	T	TG	C132881874G	TG	NM_003235.5(TG):c.649dup:p.Ala217fs	coding	Pathogenic
8	132888595	ATGTG	A	G132888619A	TG	NM_003235.5(TG):c.2761+28TG[11]	noncoding	Benign
8	132972569	G	GT	G132972576T	TG	NM_003235.5(TG):c.6056-23dup	noncoding	Benign
8	133095197	G	GC	A133095201C	TG	NM_003235.5(TG):c.7396dup:p.Gln2466fs	coding	Pathogenic
8	133252821	G	GGGGACTCTATTCCCCTCGTACACTCGCCAACTCCAGAGTGGGGCCTCTATTGCCCTCGTACACTCGTCAACTCCAGAGTGGGGCCTCTATTCCCCTGGTACACTCGTCAACTCCAGAGTGGGGCGTCTGTTCCCCTGGTGTACTCGCCAGCTCCAGAGTGGAGGCTGTGTCCCCAGGACTCATGGGAGTGTCAGATGGTCACACATGTTAGCTCAGAAGCAGACAGTGGTATGTAAGCAAAGCAGGTCACTGCAATTTCAGGCAACCAAGGGGTTTTCCAGACCCTGGGCTTGCAACCAAGCCCATGGCATACCCTTCCCGAGGGTAGCTGGCCCCAGCTAGAGACACAAAACCAGTGTCTGGGGCCAGGCAGGCTGGGCTGATAAGATGACTGCTCACTTCTAGCATGCTGTGAGGGGCTTGGCTCAATCCCCTTTAGTGGGGTAACTCTGCAGAAGAGCAGCTCATCTCAGAGCCAGGCAGCAGCACAGGCAGCCGCCATCCTGCTGTGGTGACCAGAATGAAGCCAGATTCATAGGTTCTAATACCGGCCCCACCTCTCCCTGGTTGAGACCCTATGCAAGTCACTCAACCTCTCTGGTCTGTTTCCTCTTCCATAAACTGGGAATGAGAACAGAATTTATCACACAGGTCACAGAGCACCTGGGTGGAATCCTATTCCTATAGTTAACACTTGTGAAGCTCTTAGGACTGAGCCCAGCCCAGCACACAGCTAACTCCACGGACATGTTTGCTACTGACCAGATTTATAACAGCCCAGAACTGGGAACAACTCAAAGGTCTTATCAACAGGTGAATGGAAAAACAAACTGTTGCACATACATAAAATGGAATACTTCTCAGCACTAAAAAGGAATAAACTTTTTTTTAAGAGACAGGGTCTCTCTGTCACCTAGGCGGAATACAGTGGGCTATCCCAGCTCACTGCTCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTATAGGCATGCAGAACCACCATGCCTGGCCAATTTTTAATTTTTCTGTAGAGACAAGGTGTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGTGCTGGGATTATAGGAATGAGCACTGCACCCCGACTAGGAATAAACTATTGATCCACTCATTAACATGGACAAATCTCAAAATGGTTATGCTGAGGGAAAGAAGCCAGACCAAAAAAAAAAAAAAAAGAGTACCTACTATATAATGCCATTTATATAAAATTCTAGGAATTGCAAAGCAATCTATAGAGGCCAATGCTGATCAGAAGTTGCCTGAGGAGGAGGGAGAGGAGGACTATCAAGGGGCACAAGGAAACTCTTGGAGTGATGGAGACGTTATTCTCCTGATTACAGGGATGGTTTTACAAATGTATATGCATGTCAATTGTACACTTTAAATATGTGCAGTTAATTGTACTTCAATCAGCTGTTTTTAAAAGACACATAAAAAAGAGAGAGAATGAATGACTTGTTGCTTATGAATGAATAATGTCACATTATCTCATGAGCACCAGCTCGGTGGCCCCCAGTTGATTGTGTCTTGTTCTCTCCACCCCCACATGGGGCCCTGTGCTGAGCACCACACAATGCCTTGCTCAGCAGGAACAACAGATTTGCCAGACCACGCAACTCACCTTCCCAAAAAGGTGGGACACCACCATGTCCGGCAGAGCTTGGGTCCATCCTGAGATCTGGAAAGGAGTAAAGTGGGTGGATGAGAAACCAGGAGCTAACAGTAGTTAACAAGGTCAGCAAAACCCCACTTCCCTGGGTGCAGGGTGGCATTGCTGGACTCCCCCCTACATGCAGGCCTCAAGGACATCCCCCTTGATAGAAACTCAGTTCCTGTCTCCAGTTCCCTCCTGGACCTGATCCCCCAAATGCAGGGCCTGGGACTATATCCAGTTCCTTATTTTCAGAGGCCCATGCACAAGATGCACAGCAAATAAGTGCTGAATAAAGACCCAGCTACTGCTAGCTTACCCTGCTCCAAACATTCACCAAGTCCTCAGCAAAGAGGGCCATCCATTCACCTCTTCTAAAAACACACTGAGCTCCCCAGTCTATACCCCAAGATATGCTTGGCTCCCAACTATCCCTCCTCTCTCATCTCCAAGCCAGTTTCCCCTTTCTAAGTATACTGATATTACCAAAGACACTGACAATCTTCTTTTCCTACCTCTCCCCAGTGACTAGGTTTGCAGCAGGAGCTCTATAAGTCCTAGTATACAGCAGAAGCTCCATAAATGTGTGCTGACCTAAGCATTAGGCAAAAATGAGTAGGAGAGAAGCTCTAGACCTAAGGGTCTTTGGCTGGCCCTTGCCTGCCACAGCCTAGCTGTGTGGCACTGGGCAGTCTGCATACCTCTGGGTCTCAGACTTCTAATCTGGAACTGGGAGTGCCAGGAACTTCAAGGCCACAAGGTCAAGGGAAGGACTGCAAGAAGTAACTGCACACATCACAGTATCTAATACCAATGCCTGGTAATCGAAAGGCTGGAGTTGAAAAAGAAGGGAATAGTACAGCTATTAAAGCTGTACTGAAGGGAATAGTACAGCTATTAAAGACAATCCTCAGGCTTCACATTAGCCAGTGGTCGACATCCCCAGACCTTCGAGTCTCACTCAGGACAGCTATCATGAAGCCCAGCGGGTTGACTGGAATGTCACTTCCTTTGCTGGAAAATCAAATAAAAAACAGGGAGTGTGTTCCACTCCAGAACGTCATACAGGCTGGACGGAAGGGCTCCTGCATTCTGGAGGAATGTTCAAAGAACAAATGCAAAATCACAGTGGCTGGTACAGGGCAGGGGATGGGGCAAGAGGCAGGGCCCCTTCAAACCATCGGTCCCTGGCAGCCACCCAAAATTGGGCAAAAATGCACTTGCAGAATGAGAAGCTGCGATCACCTCAGCTTGAAAGACTCTGTCCTATTTCAACTGGAATGACCTCCCCCTCTCCTTGGCCAACACTGAGGCCTTTACAGGGAAAAAAACAAAAACAAAAACACCACAATGATAATTTTTAAAAGATAAACAAGGAACCTTAGGACACCAGCCAGGACAGAGCTTCCCAAGACAGCACAGGTCCCTTCTCCTCCAGGCAGCCTACCCTGCTTGCCAGGCCTGCCTGTCTCCCACCCTGGACAGGAGCCCCAGGGGCACGGGTGGTCAGGTCCACGAACCACAAAGTCAAAGCAAGCTGCATCCAGTCCCCGTTCTACTGCCTAGCTTTATGTGACCCTGGACAATCCCCTTAGCCACACCGAGTCCTTACCTCTGAAACGGTGATAAAAATTCTCACCTCCTAGAGTTACTATGAAGATTAACTGAGATCATGCACACACAGCAACGTAGAATGAAACTAGCACATGGTAAACTCTCAATCTACGTTAGCTAATTATTATCGTAAAATTCTGTGGCACAGTCCGTACTAAATACATATTTATTTTTCTTTAATAATATGTGAATGGATTCCTAAGATTCATTCCTAGAGGCTTTTGTCTTGTTCATCTCAAGAAGTCTTGTTCTTCAAGATGCTCAGCATCTTGACCAAAGCCTGGCACAAGTTATGTACCCAGCTAATACTCATTAATCCAAGCAATGCTTCTCCAAGCTGCCTCAGGGACCTGTGTCCCAGTGCTTTCCCTGGCTTAGACAGCTTGGTGGTATTTAAGTCTTCTGAATGGCAAACGGCTGAGGTCATGTGTACTGTTCTAAGTAAAGCAGAGGGAACTGGAGTGGGCAGTAGAGGGTAGTGGAGGAGTGGGTAAAGAGAGAGCTCGTAGCTCCAGGGATCCCCCAGGCAGAGGCTGTGTGCACCTGTCCCTCTTCTTGCAGGGATCCCGCCGGCCTGACAGGCCCCCACCTCACCTTGGAGGCGGCCCAGTCCATCCAGCCTTCCGCACAAGGGTTCACGTTGATAAGGACAAGGCCCTCCACCATCTCAGGGTTGTTTAGCTGCAATTCAAGACACAAAGTGAGACAGACATCCCAGCAATCTGAAACACTAGGAACTTTCCAAGGCAAACCAAAGCTTGAGAGAAGTACCCAGAAAAAGGCAGTGTGGGCAGCAGAGCAGGCTGCTGCTCCCCGGCCCCACCCCATGCAAAACTGAGGTTCCAGCACAGCAGACACGGTATCGGGTCCTAGAGAGAGTGGGAAGGAGAAAGAGGAAGTGCAGGAGAAGTAGGAAGCCCGCTGCTTTGCAGGCCTGCCTTGGGCAAGTCACTTCAACCCACGGAGGCTCAGCTTCTCCAGCTATCAAATGGGTGTAACACACCATCGACCTCATCAATCAAACAAGGCGCACAGCACAAATGCTCTCTAGTTGTGGCAGTAACAACTGTATTACTTACTTCCAGGATAAACACATGCATACACACACACACACACACACACACACACACACACAGAGAGAGAGACAGAGTTATGCATCGCTGAATAACAGGGATACTTTCTGAGAAAATTCATCATTAGGAGATTTTGTCATTGTGTGAAGATCTCAGAGTATACTTACACACACCTAGACAGTATAGTCTACAACTCACCAAGGCTGTATAGAACAGCCCTTTGCTCCTAGGTTTGCTGTACAAACCTGTACAGCATATGACGCTACCCAATACTGCAGGGAATTGCAACACAATGCTAAGTATTGATGTATCTAAGCAAATCTAAACATAAAAATGGTACAGTAAAAATGAACCATTATAATCTTATGGAACCACTGTCAAATGTGCAGTCTGTCATTGACCAAAATGTCATTATGTGATGCAGATACATACAGATATAGATATGTACACCTGGGGTACAGTTGAGACCATTTTTAATTTGCTGAGAGCCTATATGGCCAGACCATTTTGTATTCATGTCAGCATTCCTTTCTTTTTTTTGTAAGATGGATGTTGTAGAATCATGTCAGTATTCCCAACCTCCAGCAAAGCCCAGCAAATAATAGGTAGTCAAAATACCAATGGATGTACAAAATGAGTATTGTTGCATTCTTACACAATTGCTCGGTGAGGATACAAAGGAACAGTGGCTCTTGACCTGAGCCCAGAGAAATAACAATGACAACTGTCATGAAAACTTCCCGTGTCTGATTCTAGTTTAGAATCAGTTATGACCCAGGAGTGCCCTGACTACAAAAACCTGTACAGCTGTTACAAAGCAGTGTCATAGCAGAGTACTCAGTGAGTGAGGAGCGTCCTCACTAGATGGCTAAGCGGACAAAGCCCATGACAAAGGAATGTGTCCAGTATCATCCTTGAGTGGAGGAAGAGAAAAGGCTGTGAGTATATATATATACGAGTACCCATGCACCACACACACACACACACACAACTGTGGAGAATACGGGTCATTTCTTTTTCCCTTTTGGGTTTTTGATGCTTTTCCAATGTCTTCCTTCATCTTAAAATGTTATTTAAAATGCGATTTTCAAAAAATGCCAAAGCACTCACAGCAAATCGAGTTAGGATGTAGGCGCCTGCTCCTGTTCCCATGCCAATAATGCTTTTCAGCCTGGAAGCAAAAATACAAATGCATGTCACACAAGGACAGAGTGACGGGAGCCTCCAAGGACCCACTTAGAACTTCCTGAGGGTGACCGCCTGGCTAGGCAATGCGGGAGCATGCTGCCGTAACTGCCTGCACAGCTCTGAGGTCACCATGCTTTAGGACTGGACAGAGACCTCGACCTTGGAGAGCCGCGCCCCTTCTCCTCACTTCCCTCCTGGCCGCCACCCAGGCTCTGAGAGACCGTCTGACATTTACGGGAAGGCCCGTTACGGCATCATTTCTTCCCACTCTTAAGCTTTATTTTGGATTCTAAAACTTGGAATGAAAACAAATTGAGCAAGAACCATGAAGTTATCATTCTTTGAAGAGCTCAAGACAGAGAGGAACACTGGAAAAATGAGGGTGTGGAGAGAAAAGCTAAGGACTCAGGCAACTCCATTCCAGAACATTCCATGGGAAAGAGAAGGGAATGGAAGAACAGGAGGCAAGAGCAAATGGGTGGGGCAGCTGCCATCATGCAATATAACATTCACGCAAGAGGAAAACTGAAGTTAGAGGAGACAGACTAGAGCTCAGAGACTGTGTGAAGAACAGTGTTCACAGAGTGACGAGCTAATTTCTTGCCTCATCTCTAAATTGCAACCTTAATTTTA	T133259078G	NDRG1	NM_006096.4(NDRG1):c.389+92_594+1717dup	noncoding	Pathogenic
8	133256766	CCCCACCTCA	C	C133256769T	NDRG1	NM_006096.4(NDRG1):c.537+2_537+10del	noncoding	Pathogenic
8	133256792	G	GTCCA	G133256801T	NDRG1	NM_006096.4(NDRG1):c.518_521dup:p.Trp175fs	coding	Pathogenic
8	133258225	CCA	C	C133258244A	NDRG1	NM_006096.4(NDRG1):c.450+121TG[9]	noncoding	Benign
8	133258225	C	CCA	A133258246C	NDRG1	NM_006096.4(NDRG1):c.450+121TG[11]	noncoding	Benign
8	133259188	AG	A	G133259190A	NDRG1	NM_006096.4(NDRG1):c.368del:p.Pro123fs	coding	Pathogenic
8	133284329	CCT	C	C133284330G	NDRG1	NM_006096.4(NDRG1):c.-18-2_-18-1del	noncoding	Benign/Likely_benign
8	133296688	GACACAGAC	G	G133296694C	NDRG1	NM_006096.4(NDRG1):c.-19+438_-19+445del	noncoding	Benign
8	133296694	GAC	G	A133296731T	NDRG1	NM_006096.4(NDRG1):c.-19+402GT[18]	noncoding	Benign
8	133296694	G	GAC	T133296733A	NDRG1	NM_006096.4(NDRG1):c.-19+402GT[20]	noncoding	Benign
8	139732033	GTAGTT	TTAGTC	G139732033T	TRAPPC9	NM_001160372.4(TRAPPC9):c.3220_3225delinsGACTAA:p.Asn1074_Tyr1075delinsAspTer	coding	Pathogenic
8	139885893	G	GCCAGC	T139885899C	TRAPPC9	NM_001160372.4(TRAPPC9):c.3036_3040dup:p.Ala1014fs	coding	Pathogenic
8	139988847	GA	G	A139988853G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2700-12del	noncoding	Benign
8	140024091	TA	T	A140024102T	TRAPPC9	NM_001160372.4(TRAPPC9):c.2557-13del	noncoding	Benign
8	140024091	T	TA	T140024103A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2557-13dup	noncoding	Benign
8	140024103	T	TAC	T140024117C	TRAPPC9	NM_001160372.4(TRAPPC9):c.2557-36GT[7]	noncoding	Benign
8	140221555	CAG	C	A140221556G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2458_2459del:p.Leu820fs	coding	Pathogenic
8	140253110	CCT	C	C140253111G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2279-183_2279-182del	noncoding	Benign
8	140283815	T	TA	T140283830A	TRAPPC9	NM_001160372.4(TRAPPC9):c.2114+60dup	noncoding	Benign
8	140283980	GCAAA	G	A140283983G	TRAPPC9	NM_001160372.4(TRAPPC9):c.2019_2022del:p.Leu674fs	coding	Pathogenic
8	140284008	C	CG	T140284010G	TRAPPC9	NM_001160372.4(TRAPPC9):c.1994dup:p.Val666fs	coding	Pathogenic
8	140287826	T	TC	G140287828C	TRAPPC9	NM_001160372.4(TRAPPC9):c.1855-93dup	noncoding	Benign
8	140397386	A	AAAAC	A140397398C	TRAPPC9	NM_001160372.4(TRAPPC9):c.1134+226GTTT[3]	noncoding	Benign
8	140434969	CA	C	A140434984T	TRAPPC9	NM_001160372.4(TRAPPC9):c.859+142del	noncoding	Benign
8	140435250	AAGAAAACAAAAAACAAAAACC	A	A140435274C	TRAPPC9	NM_001160372.4(TRAPPC9):c.731-31_731-11del	noncoding	Benign
8	140458148	AGGAGGGAGAT	A	G140458163C	TRAPPC9	NM_031466.8(TRAPPC9):c.-11+123_-11+132del	noncoding	Benign
8	140458393	A	AC	G140458400C	TRAPPC9	NM_031466.8(TRAPPC9):c.-124dup	coding	Pathogenic
8	140458526	CCT	C	C140458527G	TRAPPC9	NM_031466.8(TRAPPC9):c.-258_-257del	coding	Pathogenic
8	140560482	TGAA	T	A140560487G	AGO2	NM_012154.5(AGO2):c.541TTC[1]:p.Phe182del	coding	Pathogenic
8	142874446	TC	T	C142874448T	CYP11B1	NM_000497.4(CYP11B1):c.1438del:p.Asp480fs	coding	Pathogenic
8	142874995	G	GC	G142874998C	CYP11B1	NM_000497.4(CYP11B1):c.1359dup:p.Arg454fs	coding	Pathogenic
8	142875022	AGCCAAAGG	A	C142875025A	CYP11B1	NM_000497.4(CYP11B1):c.1325_1332del:p.Pro442fs	coding	Pathogenic
8	142875140	CA	C	A142875141C	CYP11B1	NM_000497.4(CYP11B1):c.1214del:p.Val405fs	coding	Pathogenic
8	142875253	T	TTC	G142875257C	CYP11B1	NM_000497.4(CYP11B1):c.1179_1180dup:p.Asn394fs	coding	Pathogenic
8	142876287	GC	G	C142876288A	CYP11B1	NM_000497.4(CYP11B1):c.907del:p.Ala303fs	coding	Pathogenic
8	142876341	T	TAGTA	G142876342A	CYP11B1	NM_000497.4(CYP11B1):c.853_854insTACT:p.Gln285fs	coding	Pathogenic
8	142876754	TC	T	C142876756T	CYP11B1	NM_000497.4(CYP11B1):c.726del:p.Ser243fs	coding	Pathogenic/Likely_pathogenic
8	142876837	CTG	C	T142876840G	CYP11B1	NM_000497.4(CYP11B1):c.642_643del:p.His214fs	coding	Pathogenic
8	142876869	AAG	A	A142876872C	CYP11B1	NM_000497.4(CYP11B1):c.610_611del:p.Leu204fs	coding	Pathogenic
8	142877071	T	TC	G142877077C	CYP11B1	NM_000497.4(CYP11B1):c.546dup:p.Ser183fs	coding	Pathogenic
8	142879998	CCCT	C	T142880007A	CYP11B1	Single_allele	noncoding	Benign
8	142912534	T	TGCA	T142912550G	CYP11B2;LOC106799834	NM_000498.3(CYP11B2):c.1379TGC[6]:p.Leu464dup	coding	Pathogenic
8	142913358	TGGCTGCGGCGGCCA	T	G142913363C	CYP11B2	NM_000498.3(CYP11B2):c.1034_1047del:p.Leu345fs	coding	Pathogenic
8	142914912	CG	C	G142914916A	CYP11B2	NM_000498.3(CYP11B2):c.596-5del	noncoding	Benign
8	142915044	AC	A	C142915046T	CYP11B2	NM_000498.3(CYP11B2):c.595+1del	noncoding	Pathogenic
8	142915087	GT	G	T142915088C	CYP11B2	NM_000498.3(CYP11B2):c.553del:p.Thr185fs	coding	Pathogenic
8	142915099	C	CG	C142915103G	CYP11B2	NM_000498.3(CYP11B2):c.541dup:p.Arg181fs	coding	Pathogenic
8	142915109	GC	G	C142915110A	CYP11B2	NM_000498.3(CYP11B2):c.531del:p.Gln178fs	coding	Pathogenic
8	142915212	C	CCGCAAT	G142915221C	CYP11B2	NM_000498.3(CYP11B2):c.423_428dup:p.Leu144_Asn145insArgLeu	coding	Pathogenic
8	142917110	G	GGC	T142917113G	CYP11B2	NM_000498.3(CYP11B2):c.342_343dup:p.Pro115fs	coding	Pathogenic
8	142917732	GCAGCA	C	G142917732C	CYP11B2	NM_000498.3(CYP11B2):c.104_109delinsG:p.Val35fs	coding	Pathogenic
8	142917733	CAGCA	C	A142917734C	CYP11B2	NM_000498.3(CYP11B2):c.104_107del:p.Val35fs	coding	Pathogenic
8	143213588	CGGCTGCAGGACAGTGAGTAGGGTGAGTAGGGTAGTAGGACAGTGAGTAGGGTGAGTA	C	A143213621G	GPIHBP1	NM_178172.6(GPIHBP1):c.53-201_53-145del	noncoding	Benign
8	143213623	TAGGACAGTGAGTAGGGTGAGTAGGCTGC	T	C143213648G	GPIHBP1	NM_178172.6(GPIHBP1):c.53-174_53-147del	noncoding	Benign
8	143215177	CA	C	A143215178G	GPIHBP1	NM_178172.6(GPIHBP1):c.295+52del	noncoding	Benign
8	143310051	AC	A	C143310055A	TOP1MT	NM_052963.3(TOP1MT):c.1703+16del	noncoding	Benign
8	143317715	AG	CT	A143317715C	TOP1MT	NM_052963.3(TOP1MT):c.1330+7_1330+8inv	noncoding	Benign
8	143728150	GTG	TTA	G143728150T	FAM83H	NM_198488.5(FAM83H):c.1309_1311delinsTAA:p.His437Ter	coding	Pathogenic
8	143728547	GC	G	C143728551G	FAM83H	NM_198488.5(FAM83H):c.913del:p.Ala305fs	coding	Pathogenic
8	143817123	AGGAGGACGGGCTG	A	A143817126G	PUF60	NM_078480.3(PUF60):c.1154_1166del:p.Pro385fs	coding	Pathogenic
8	143817739	C	CA	T143817741A	PUF60	NM_078480.3(PUF60):c.860dup:p.Met287fs	coding	Pathogenic
8	143817750	CAG	C	A143817751C	PUF60	NM_078480.3(PUF60):c.848_849del:p.Ala283fs	coding	Pathogenic
8	143817964	C	CT	G143817966T	PUF60	NM_078480.3(PUF60):c.714dup:p.Asp239fs	coding	Pathogenic
8	143818006	A	AG	C143818009G	PUF60	NM_078480.3(PUF60):c.672dup:p.Phe225fs	coding	Pathogenic
8	143818038	ATGGGC	A	T143818044C	PUF60	NM_078480.3(PUF60):c.636_640del:p.Gln212fs	coding	Pathogenic
8	143818048	CCTGCCCTATGTTGCTGGGT	C	T143818055A	PUF60	NM_078480.3(PUF60):c.612_630del:p.Asn207fs	coding	Pathogenic/Likely_pathogenic
8	143818205	G	GC	A143818212C	PUF60	NM_078480.3(PUF60):c.590dup:p.Arg198fs	coding	Pathogenic
8	143818373	CTTGTGCT	C	T143818375C	PUF60	NM_078480.3(PUF60):c.503_509del:p.Lys168fs	coding	Pathogenic
8	143818499	CAT	C	A143818500G	PUF60	NM_078480.3(PUF60):c.382_383del:p.Met128fs	coding	Pathogenic
8	143824372	AC	A	C143824378T	PUF60	NM_078480.3(PUF60):c.51del:p.Ser18fs	coding	Pathogenic
8	143829293	GC	G	C143829295G	PUF60	NM_078480.3(PUF60):c.10del:p.Ala4fs	coding	Pathogenic
8	143916894	C	CT	G143916896T	PLEC	NM_201384.3(PLEC):c.12926dup:p.Arg4310fs	coding	Pathogenic
8	143920508	AC	A	C143920511T	PLEC	NM_201384.3(PLEC):c.9312del:p.Tyr3105fs	coding	Pathogenic
8	143920526	CG	C	G143920528C	PLEC	NM_201384.3(PLEC):c.9294del:p.Glu3099fs	coding	Pathogenic
8	143923418	TA	T	A143923419T	PLEC	NM_201384.3(PLEC):c.6510del:p.His2170fs	coding	Pathogenic
8	143923733	G	GT	A143923735T	PLEC	NM_201384.3(PLEC):c.6195dup:p.Gln2066fs	coding	Pathogenic
8	143924265	CT	C	T143924267G	PLEC	NM_201384.3(PLEC):c.5663del:p.Lys1888fs	coding	Pathogenic
8	143929394	T	TG	A143929403G	PLEC	NM_201384.3(PLEC):c.3081+19dup	noncoding	Benign
8	143930204	AC	A	C143930205G	PLEC	NM_201384.3(PLEC):c.2551del:p.Val851fs	coding	Pathogenic
8	143932057	G	GGCCCC	T143932076C	PLEC	NM_201384.3(PLEC):c.2083-40GGGGC[4]	noncoding	Benign
8	143933058	CGTAGGTT	C	G143933062C	PLEC	NM_201384.3(PLEC):c.1465_1471del:p.Asn489fs	coding	Pathogenic
8	143933987	C	CCG	A143933988C	PLEC	NM_201384.3(PLEC):c.1263+10_1263+11insCG	noncoding	Benign
8	143934790	G	GC	A143934797C	PLEC	NM_201384.3(PLEC):c.945+19dup	noncoding	Benign
8	143934879	AAGC	A	G143934890C	PLEC	NM_201384.3(PLEC):c.864GCT[3]:p.Leu292del	coding	Pathogenic
8	143938996	T	TC	G143939004C	PLEC	NM_201384.3(PLEC):c.113-311dup	noncoding	Benign
8	143945022	C	CGGGCTCACGTCCCTGCAGGAGGCGG	T143945048G	PLEC	NM_201378.4(PLEC):c.71-6355_71-6331dup	noncoding	Benign
8	143953448	C	CCCG	T143953477C	PLEC	NM_201378.4(PLEC):c.71-14783CGG[10]	noncoding	Benign
8	143973390	C	CG	C143973397G	PLEC	NM_201378.4(PLEC):c.70+12dup	noncoding	Benign
8	143975250	C	CCGGCTCCGCTGCGT	T143975265C	PLEC	NM_000445.5(PLEC):c.106_119dup:p.Gly44fs	coding	Pathogenic
8	144082770	GC	G	C144082773G	GPAA1	NM_003801.4(GPAA1):c.43del:p.Arg15fs	coding	Pathogenic
8	144083450	CAG	C	A144083453T	GPAA1	NM_003801.4(GPAA1):c.319_320del:p.Ser107fs	coding	Pathogenic
8	144084555	TGCGTGGCATC	G	T144084555G	GPAA1	NM_003801.4(GPAA1):c.956_966delinsG:p.Leu319fs	coding	Pathogenic
8	144084603	TG	T	G144084606C	GPAA1	NM_003801.4(GPAA1):c.1007del:p.Gly336fs	coding	Pathogenic
8	144084625	T	TC	T144084632C	GPAA1	NM_003801.4(GPAA1):c.1010+22dup	noncoding	Benign
8	144096762	TGG	T	G144096763C	CYC1	NM_001916.5(CYC1):c.772+19_772+20del	noncoding	Benign
8	144096763	GGCAGTGGGCATGTGGAATACTTCTCCA	C	G144096763C	CYC1	NM_001916.5(CYC1):c.772+19_772+46delinsC	noncoding	Benign
8	144096765	CAGTGGGCATGTGGAATACTTCTCCA	C	A144096766C	CYC1	NM_001916.5(CYC1):c.772+22_772+46del	noncoding	Benign
8	144316212	CCACACAGCTCTGGCACTCGCCCTTGTGGGTGTGGCCATACCCCCCACCAGGCCCCAGGCCCCTGGCAGGCTGAAGAGGTCACTGGACAGCACTTTATTGACACCCTCGGACCCGGGGCAGGGTCAGCAAGACTCCCAGCTGGCATCAGACTGTGTCTGGCCTGCTGTCGCCATCCCTGAGGGGTGCAGGACAGAGCCCCATAGGGGCAGAGAGGCCTCCCTGGGACCAGAGGAGGATGCTGTGCAGCCAGGCCCATCCCCAGCACTCGAGGCCTAGGAGGAGAGGTGGGCTCTGGCAGCGGGTGTGAGGTGGCAGTGAGAAGCCAGGCCCTCAGGTGCAGCTCAGGCCTCTGCCGCTGGGGCCTCATAGTTGAGCACGTAGTAGTCGTGGACGTACATGAGGACGGCTATTGGCTGTCCGATGATGAGCGACAGCCACACAGCTGCGTTGCCATAGTTGCCCTGGAAAAAGCGGCCCACGAACCAGGCCAGTGGGATCTAGGGAGTGAGGGGCCAAGTCAGTCGGCCATGGTGACCACAGGGCTGGGGGCTTCAGGGTCCCTGGGCATGGGGAGGGTCAGCCGAGGGGTTCAGGTGCGGGGTAACTGGGCGAGTGAGGAGGCCACGTGGGGGTCACTCACCTGAGCCATCATGCCCGTGAACGCCCAGAGGCGGAACATTCGCAGAGGGACGCTCACCAGGTACTGAGATGGGAGGGAGAGAGGATGCCAGGGAGTGGGGTGTCAGCCGTCCCTGCTGTGGGCATACCCCTGCCCAGGGATGAGGCAAGATGCCCCCCAGAGCACTGACCTCGTGGAAGAAGGCCGAGGCCAGGAACACCCCTGTCCTGGCCATCCACTTGCTGCTGCCCCGTCGAAGCATGGGCTTGTAGAAGTGTCTGCAGAGGAGGGGGCATGGAAAGCGGTTCAGGTTCACAGCCATGTTCCACATCACACACACACACACCCCACCTACCTGATGCACCACTTGTGCACAGGGATGTTCCAGTTCTGCCAGAAGTAGGTGACAGACTCGGAGTTCCTGGGGGCCAAGAGACCACAGGGGGATCAGAGCACACCATGGCCCATCCCAGCCCCCAGGGACACCCCAGGGACACTCACCACCAGTCCCGGTAGAACTCCCGGTCTCCAAACTGCATGAGCTCAGCCACGGCATTCAGGCAGGAGTGGAAGAGCCAGTAGAAGAAGATGAGCCAGATGAGGTGATTGGGGACCTGGCAGGGAGGTGGGGGTGGGCACCAAGTTCTAGAACCTTCCCCCACATGCCACTGTCCCCTCCTGTCCTGTGCATGCGCCACCTGTCCGCACTCACCGCCAGCTTCAGGAGGCGCTCGATGATGCGTGAGTAGTCCATGTCCTGCAGAAACAAGCCCTTCAGCTAGCCATGCTCCTGGTCACTCCCCAGCCACCCCAGCTGCAAGAGCACCTGAGCCACTCACCTTGAAGGGCTTCATGGAGTTCTGGATGGTGGGGACCATCCACTGCAAAGGAGGGCACCACGTCAGCTCCCAGCCATGCCCAGCTACACCCAACCCTGCCCTACCCCACTTACCTGCTGGATCAGCCCCACCTGGAGCTGGGTGAAGAACAGCTGGGGGGGAAACAGAGAGCAGCCAGCTGAGGCCCTGGCTAGCCAGAAGGCCCCCTAGCCTCCAGTGGCTGCCCCCAGCCCCCAACCTCACCATCTCAAGGATCCGTCGCAGCAGAAAGCGCTTCCGGATGCGGGGAGAGCG	C	C144316213G	DGAT1	NM_012079.6(DGAT1):c.805_*341del:p.Arg269fs	noncoding	Pathogenic
8	144317254	T	TG	C144317260G	DGAT1	NM_012079.6(DGAT1):c.1095-3dup	coding	Benign
8	144317316	AC	A	C144317320A	DGAT1	NM_012079.6(DGAT1):c.1094+16del	coding	Benign
8	144317824	TG	T	G144317831A	DGAT1	NM_012079.6(DGAT1):c.856-3del	noncoding	Benign
8	144317824	T	TG	A144317832G	DGAT1	NM_012079.6(DGAT1):c.856-3dup	noncoding	Benign
8	144318108	A	ATTGTCCGGGTAGCTCACGG	G144318129T	DGAT1	NM_012079.6(DGAT1):c.719_737dup:p.Leu247fs	coding	Pathogenic
8	144318503	AAC	A	C144318507G	DGAT1	NM_012079.6(DGAT1):c.530_531del:p.Cys177fs	coding	Pathogenic
8	144359768	AGCCCT	A	C144359771T	SLC52A2	NM_001363118.2(SLC52A2):c.279_283del:p.Leu94fs	coding	Pathogenic
8	144359893	CCTT	C	C144359897G	SLC52A2	NM_001363118.2(SLC52A2):c.402CTT[1]:p.Phe135del	coding	Pathogenic
8	144397274	T	TC	T144397280C	CPSF1	NM_013291.3(CPSF1):c.2524dup:p.Glu842fs	coding	Pathogenic
8	144413511	ACCTGGGCTCAGTCT	A	T144413523G	SLC39A4	NM_130849.4(SLC39A4):c.1462_1474+1del	noncoding	Pathogenic
8	144413772	TG	T	G144413779C	SLC39A4	NM_130849.4(SLC39A4):c.1396del:p.His466fs	coding	Pathogenic
8	144413772	T	TG	C144413780G	SLC39A4	NM_130849.4(SLC39A4):c.1396dup:p.His466fs	coding	Pathogenic
8	144414016	AGCCCG	A	C144414020A	SLC39A4	NM_130849.4(SLC39A4):c.1224_1228del:p.Gly409fs	coding	Pathogenic
8	144414045	G	GGTGGGCT	A144414061T	SLC39A4	NM_130849.4(SLC39A4):c.1193_1199dup:p.Trp401fs	coding	Pathogenic
8	144414049	GGCTGTGGGCTGAGGCCCTCTTC	G	G144414056T	SLC39A4	NM_130849.4(SLC39A4):c.1174_1195del:p.Glu392fs	coding	Pathogenic
8	144414251	TG	T	G144414256C	SLC39A4	NM_130849.4(SLC39A4):c.1149+10del	noncoding	Benign
8	144414278	AG	A	G144414280A	SLC39A4	NM_130849.4(SLC39A4):c.1132del:p.Leu378fs	coding	Pathogenic
8	144414340	G	GGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCA	A144414395T	SLC39A4	NM_130849.4(SLC39A4):c.1018_1070dup:p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer	coding	Pathogenic
8	144414344	AC	A	C144414350T	SLC39A4	NM_130849.4(SLC39A4):c.1066del:p.Val356fs	coding	Pathogenic
8	144414417	GGGAGC	G	G144414418C	SLC39A4	NM_130849.4(SLC39A4):c.989_993del:p.Gly330fs	coding	Pathogenic
8	144414418	GGAGCCGTACA	G	G144414421T	SLC39A4	NM_130849.4(SLC39A4):c.983_992del:p.Leu328fs	coding	Pathogenic
8	144414727	TCTGA	T	A144414731G	SLC39A4	NM_130849.4(SLC39A4):c.970_973del:p.Ser324fs	coding	Pathogenic
8	144414752	CG	C	G144414758C	SLC39A4	NM_130849.4(SLC39A4):c.948del:p.Val317fs	coding	Pathogenic
8	144414792	C	CT	G144414794T	SLC39A4	NM_130849.4(SLC39A4):c.908dup:p.Gln304fs	coding	Pathogenic
8	144414838	AC	A	C144414842A	SLC39A4	NM_130849.4(SLC39A4):c.862del:p.Gly287_Val288insTer	coding	Pathogenic
8	144414898	T	TG	T144414905G	SLC39A4	NM_130849.4(SLC39A4):c.805-3dup	noncoding	Benign
8	144415347	GGACGCCGCCAGCA	G	G144415348C	SLC39A4	NM_130849.4(SLC39A4):c.534_546del:p.Ala179fs	coding	Pathogenic
8	144415870	CG	C	G144415874T	SLC39A4	NM_130849.4(SLC39A4):c.413del:p.Pro138fs	coding	Pathogenic
8	144415946	TCCTCA	T	C144415948A	SLC39A4	NM_130849.4(SLC39A4):c.333_337del:p.Cys111_Asp113delinsTer	coding	Pathogenic
8	144416029	G	GC	G144416033C	SLC39A4	NM_130849.4(SLC39A4):c.254dup:p.Val87fs	coding	Pathogenic
8	144416633	C	CCG	C144416637G	SLC39A4	NM_130849.4(SLC39A4):c.155_156dup:p.Asp53fs	coding	Pathogenic
8	144416701	CT	C	T144416702C	SLC39A4	NM_130849.4(SLC39A4):c.88del:p.Ser30fs	coding	Pathogenic
8	144435932	TC	T	C144435936G	TONSL	NM_013432.5(TONSL):c.2500del:p.Asp834fs	coding	Pathogenic
8	144436782	G	GC	G144436789C	TONSL	NM_013432.5(TONSL):c.1864dup:p.Ala622fs	coding	Pathogenic
8	144442125	CAA	C	A144442129G	TONSL	NM_013432.5(TONSL):c.775_776del:p.Leu259fs	coding	Pathogenic
8	144442265	G	GCTCTCCATGAACCGCTTCCT	A144442287T	TONSL	NM_013432.5(TONSL):c.706_725dup:p.Ser242fs	coding	Pathogenic
8	144442816	A	AC	A144442824C	TONSL	NM_013432.5(TONSL):c.449-11dup	noncoding	Benign
8	144511571	G	GAC	G144511577C	RECQL4	NM_004260.4(RECQL4):c.3503-20GT[3]	noncoding	Benign
8	144511973	C	CT	C144511976T	RECQL4	NM_004260.4(RECQL4):c.3330dup:p.Glu1111fs	coding	Pathogenic
8	144511979	C	CTT	A144511980T	RECQL4	NM_004260.4(RECQL4):c.3324_3325insAA:p.Glu1109fs	coding	Pathogenic
8	144512016	G	GCGCT	C144512022G	RECQL4	NM_004260.4(RECQL4):c.3284_3287dup:p.Ser1097fs	coding	Pathogenic
8	144512038	AG	A	G144512040C	RECQL4	NM_004260.4(RECQL4):c.3265del:p.Leu1089fs	coding	Pathogenic
8	144512041	CA	C	A144512042G	RECQL4	NM_004260.4(RECQL4):c.3262del:p.Cys1088fs	coding	Pathogenic
8	144512195	C	CG	C144512199G	RECQL4	NM_004260.4(RECQL4):c.3184dup:p.Arg1062fs	coding	Pathogenic
8	144512216	AG	A	G144512218A	RECQL4	NM_004260.4(RECQL4):c.3163del:p.Leu1055fs	coding	Pathogenic
8	144512372	TG	T	G144512376T	RECQL4	NM_004260.4(RECQL4):c.3055+19del	noncoding	Benign
8	144512488	ACTCCACG	A	C144512489G	RECQL4	NM_004260.4(RECQL4):c.2952_2958del:p.Val985fs	coding	Pathogenic
8	144512649	CCAGGGCCTGGAGCTGGG	C	T144512657C	RECQL4	NM_004260.4(RECQL4):c.2861_2877del:p.Ala954fs	coding	Pathogenic
8	144512758	CAA	C	A144512760G	RECQL4	NM_004260.4(RECQL4):c.2767_2768del:p.Leu923fs	coding	Pathogenic
8	144512830	T	TA	C144512832A	RECQL4	NM_004260.4(RECQL4):c.2755+16dup	noncoding	Benign/Likely_benign
8	144512951	TG	T	G144512952C	RECQL4	NM_004260.4(RECQL4):c.2650del:p.Gln884fs	coding	Pathogenic
8	144512954	T	TCAGC	T144512960A	RECQL4	NM_004260.4(RECQL4):c.2644_2647dup:p.Glu883delinsGlyTer	coding	Pathogenic
8	144513048	CT	C	T144513049G	RECQL4	NM_004260.4(RECQL4):c.2553del:p.Ala852fs	coding	Pathogenic
8	144513052	GAA	G	A144513053C	RECQL4	NM_004260.4(RECQL4):c.2548_2549del:p.Phe850fs	coding	Pathogenic
8	144513083	AG	A	G144513085A	RECQL4	NM_004260.4(RECQL4):c.2518del:p.Leu840fs	coding	Pathogenic
8	144513198	TGG	T	G144513209T	RECQL4	NM_004260.4(RECQL4):c.2463+18_2463+19del	noncoding	Benign/Likely_benign
8	144513258	TC	T	C144513259A	RECQL4	NM_004260.4(RECQL4):c.2422del:p.Asp808fs	coding	Pathogenic
8	144513306	G	GA	G144513307A	RECQL4	NM_004260.4(RECQL4):c.2374_2375insT:p.Pro792fs	coding	Pathogenic
8	144513375	AC	A	C144513377A	RECQL4	NM_004260.4(RECQL4):c.2305del:p.Val769fs	coding	Pathogenic
8	144513384	CG	C	G144513385C	RECQL4	NM_004260.4(RECQL4):c.2296del:p.Arg766fs	coding	Benign
8	144513392	G	GC	T144513396C	RECQL4	NM_004260.4(RECQL4):c.2288dup:p.Gln764fs	coding	Pathogenic
8	144513403	A	AG	C144513406G	RECQL4	NM_004260.4(RECQL4):c.2277dup:p.Phe760fs	coding	Pathogenic
8	144513465	GT	G	T144513469G	RECQL4	NM_004260.4(RECQL4):c.2215del:p.Thr739fs	coding	Pathogenic
8	144513469	T	TG	C144513475G	RECQL4	NM_004260.4(RECQL4):c.2211dup:p.Lys738fs	coding	Pathogenic/Likely_pathogenic
8	144513674	G	GT	G144513679T	RECQL4	NM_004260.4(RECQL4):c.2096dup:p.Asn699fs	coding	Pathogenic
8	144513674	GT	G	T144513678G	RECQL4	NM_004260.4(RECQL4):c.2096del:p.Asn699fs	coding	Pathogenic
8	144513931	GTC	G	C144513933G	RECQL4	NM_004260.4(RECQL4):c.2053_2054del:p.Asp685fs	coding	Pathogenic
8	144513959	AG	A	G144513961T	RECQL4	NM_004260.4(RECQL4):c.2026del:p.Leu676fs	coding	Pathogenic
8	144514062	CTG	C	T144514065A	RECQL4	NM_004260.4(RECQL4):c.1922_1923del:p.Thr641fs	coding	Pathogenic
8	144514214	CG	C	G144514216A	RECQL4	NM_004260.4(RECQL4):c.1852del:p.Arg618fs	coding	Pathogenic
8	144514306	CG	C	G144514307C	RECQL4	NM_004260.4(RECQL4):c.1760del:p.Ala587fs	coding	Pathogenic
8	144514514	C	CA	G144514516A	RECQL4	NM_004260.4(RECQL4):c.1631dup:p.Pro545fs	coding	Pathogenic
8	144514994	CG	C	G144514996C	RECQL4	NM_004260.4(RECQL4):c.1561del:p.Arg521fs	coding	Pathogenic
8	144515221	TG	T	G144515223A	RECQL4	NM_004260.4(RECQL4):c.1411del:p.Gln471fs	coding	Pathogenic
8	144515333	CT	C	T144515334G	RECQL4	NM_004260.4(RECQL4):c.1382del:p.Gln461fs	coding	Pathogenic
8	144515358	AGT	A	T144515360G	RECQL4	NM_004260.4(RECQL4):c.1356_1357del:p.Tyr454fs	coding	Pathogenic
8	144515784	GC	CT	G144515784C	RECQL4	NM_004260.4(RECQL4):c.1237_1238delinsAG:p.Ala413Arg	coding	Benign/Likely_benign
8	144515810	GA	G	A144515813C	RECQL4	NM_004260.4(RECQL4):c.1211del:p.Phe404fs	coding	Pathogenic
8	144516070	CT	C	T144516071G	RECQL4	NM_004260.4(RECQL4):c.1048del:p.Arg350fs	coding	Pathogenic
8	144516114	GCCCTCAGCCTTCCCAGC	G	C144516117T	RECQL4	NM_004260.4(RECQL4):c.988_1004del:p.Ala330fs	coding	Pathogenic
8	144516130	G	GC	T144516134C	RECQL4	NM_004260.4(RECQL4):c.988dup:p.Ala330fs	coding	Pathogenic
8	144516221	CT	C	T144516222G	RECQL4	NM_004260.4(RECQL4):c.897del:p.Glu301fs	coding	Pathogenic
8	144516271	C	CCAGCT	T144516277C	RECQL4	NM_004260.4(RECQL4):c.843_847dup:p.Gly283fs	coding	Pathogenic
8	144516411	GCCCTGGGAGCCAGC	G	C144516412A	RECQL4	NM_004260.4(RECQL4):c.694_707del:p.Ala232fs	coding	Pathogenic
8	144516465	TTG	T	T144516468A	RECQL4	NM_004260.4(RECQL4):c.652_653del:p.Gln218fs	coding	Pathogenic
8	144516503	TG	T	G144516508C	RECQL4	NM_004260.4(RECQL4):c.615del:p.Ala207fs	coding	Pathogenic
8	144516503	T	TG	C144516509G	RECQL4	NM_004260.4(RECQL4):c.615dup:p.Lys206fs	coding	Pathogenic
8	144516656	C	CG	T144516657G	RECQL4	NM_004260.4(RECQL4):c.462_463insC:p.Val155fs	coding	Pathogenic
8	144516699	TG	T	G144516703T	RECQL4	NM_004260.4(RECQL4):c.419del:p.Pro140fs	coding	Pathogenic
8	144516702	GGTGGATGCCTTAGATGA	G	T144516704G	RECQL4	NM_004260.4(RECQL4):c.400_416del:p.Ser134fs	coding	Pathogenic
8	144517166	G	GC	A144517172C	RECQL4	NM_004260.4(RECQL4):c.237dup:p.Pro80fs	coding	Pathogenic
8	144517486	AGTGCG	A	G144517489A	RECQL4	NM_004260.4(RECQL4):c.136_140del:p.Arg46fs	coding	Pathogenic
8	144517731	GA	G	A144517733C	RECQL4	NM_004260.4(RECQL4):c.53del:p.Phe18fs	coding	Pathogenic
8	144517741	TCC	T	C144517743A	RECQL4	NM_004260.4(RECQL4):c.42_43del:p.Trp14_Glu15delinsTer	coding	Pathogenic
8	144517747	GC	TA	G144517747T	RECQL4	NM_004260.4(RECQL4):c.37_38delinsTA:p.Ala13Ter	coding	Pathogenic
9	215002	GCC	G	C215003G	DOCK8	NM_203447.4(DOCK8):c.27_28del:p.Ala11fs	coding	Pathogenic
9	215037	GC	G	C215043G	DOCK8	NM_203447.4(DOCK8):c.53+14del	coding	Benign/Likely_benign
9	271402	A	AC	T271405C	DOCK8	NM_203447.4(DOCK8):c.54-223dup	noncoding	Benign
9	273178	G	GA	C273184A	DOCK8	NM_203447.4(DOCK8):c.156+1454dup	noncoding	Benign
9	289481	C	CAT	G289482A	DOCK8	NM_203447.4(DOCK8):c.333-29_333-28insAT	noncoding	Benign
9	304942	TG	T	G304947A	DOCK8	NM_203447.4(DOCK8):c.528+243del	noncoding	Benign
9	317060	AC	A	C317061G	DOCK8	NM_203447.4(DOCK8):c.760del:p.Arg254fs	coding	Pathogenic
9	325693	CT	C	T325694G	DOCK8	NM_203447.4(DOCK8):c.851del:p.Leu284fs	coding	Pathogenic
9	325811	T	TC	T325812C	DOCK8	NM_203447.4(DOCK8):c.894+74_894+75insC	noncoding	Benign
9	334047	A	ACTTCTGG	C334049T	DOCK8	NM_203447.4(DOCK8):c.1126-177_1126-176insTTCTGGC	noncoding	Benign
9	334369	G	GTGGA	C334374T	DOCK8	NM_203447.4(DOCK8):c.1271_1274dup:p.Ser426fs	coding	Pathogenic
9	339908	C	CT	A339912T	DOCK8	NM_203447.4(DOCK8):c.1517-248dup	noncoding	Benign
9	371170	G	GTTTTTTT	G371173T	DOCK8	NM_203447.4(DOCK8):c.1869-256_1869-255insTTTTTTT	noncoding	Benign
9	372295	CA	C	A372297G	DOCK8	NM_203447.4(DOCK8):c.2109+11del	noncoding	Benign
9	376584	T	TA	C376586A	DOCK8	NM_203447.4(DOCK8):c.2205+280dup	noncoding	Benign
9	377360	AT	A	T377370G	DOCK8	NM_203447.4(DOCK8):c.2440+159del	noncoding	Benign
9	398814	CA	C	A398824G	DOCK8	NM_203447.4(DOCK8):c.3121-322del	noncoding	Benign
9	399267	TC	T	C399274A	DOCK8	NM_203447.4(DOCK8):c.3234+15del	noncoding	Benign/Likely_benign
9	399274	CA	AC	C399274A	DOCK8	NM_203447.4(DOCK8):c.3234+15_3234+16delinsAC	noncoding	Benign/Likely_benign
9	399275	A	AC	A399281C	DOCK8	NM_203447.4(DOCK8):c.3234+21dup	noncoding	Benign
9	399505	TAAA	T	A399507T	DOCK8	NM_203447.4(DOCK8):c.3234+248_3234+250del	noncoding	Benign
9	405014	CT	C	T405022A	DOCK8	NM_203447.4(DOCK8):c.3339del:p.Phe1113fs	coding	Pathogenic/Likely_pathogenic
9	406805	G	GC	A406806C	DOCK8	NM_203447.4(DOCK8):c.3391-125_3391-124insC	noncoding	Benign
9	407157	T	TA	C407164A	DOCK8	NM_203447.4(DOCK8):c.3530+94dup	noncoding	Benign
9	414966	GT	G	T414970C	DOCK8	NM_203447.4(DOCK8):c.3700+19del	noncoding	Benign
9	422056	CG	C	G422057A	DOCK8	NM_203447.4(DOCK8):c.4163del:p.Arg1388fs	coding	Pathogenic
9	432140	CT	C	T432154C	DOCK8	NM_203447.4(DOCK8):c.4627-12del	noncoding	Benign
9	432140	CTT	C	T432153C	DOCK8	NM_203447.4(DOCK8):c.4627-13_4627-12del	noncoding	Benign
9	432140	CTTT	C	T432152C	DOCK8	NM_203447.4(DOCK8):c.4627-14_4627-12del	noncoding	Benign
9	441369	ACT	A	T441371A	DOCK8	NM_203447.4(DOCK8):c.5309_5310del:p.Leu1770fs	coding	Pathogenic
9	441816	ACTCAGTGGCTC	A	T441822G	DOCK8	NM_203447.4(DOCK8):c.5356-53_5356-43del	noncoding	Benign
9	441960	AC	A	C441961A	DOCK8	NM_203447.4(DOCK8):c.5442del:p.Val1813_Tyr1814insTer	coding	Pathogenic
9	441999	A	AT	A442001T	DOCK8	NM_203447.4(DOCK8):c.5481dup:p.Arg1828Ter	coding	Pathogenic
9	446360	TC	T	C446365T	DOCK8	NM_203447.4(DOCK8):c.5581-5del	noncoding	Benign
9	451890	TATGCATATACATATAC	T	G451893A	DOCK8	NM_203447.4(DOCK8):c.5962-118_5962-103del	noncoding	Benign
9	451923	ATATG	A	A451929G	DOCK8	NM_203447.4(DOCK8):c.5962-82_5962-79del	noncoding	Benign
9	451943	A	ATG	A451957G	DOCK8	NM_203447.4(DOCK8):c.5962-67TG[7]	noncoding	Benign
9	451945	G	GCATATACA	T451946C	DOCK8	NM_203447.4(DOCK8):c.5962-66_5962-65insCATATACA	noncoding	Benign
9	451975	ATATTTTTTT	A	A451977T	DOCK8	NM_203447.4(DOCK8):c.5962-34_5962-26del	noncoding	Benign/Likely_benign
9	451977	ATTTTTTT	A	T451996C	DOCK8	NM_203447.4(DOCK8):c.5962-15_5962-9del	noncoding	Benign
9	451977	ATTTTTTTT	A	T451995C	DOCK8	NM_203447.4(DOCK8):c.5962-16_5962-9del	noncoding	Benign/Likely_benign
9	451977	ATTTTTTTTT	A	T451994C	DOCK8	NM_203447.4(DOCK8):c.5962-17_5962-9del	noncoding	Benign/Likely_benign
9	451977	ATTTTTTTTTTT	A	T451992C	DOCK8	NM_203447.4(DOCK8):c.5962-19_5962-9del	noncoding	Benign
9	463276	TAA	T	A463287C	DOCK8	NM_203447.4(DOCK8):c.6069-230_6069-229del	noncoding	Benign
9	463276	TA	T	A463288C	DOCK8	NM_203447.4(DOCK8):c.6069-229del	noncoding	Benign
9	676837	T	TG	T676838G	KANK1	NM_015158.5(KANK1):c.-83-53_-83-52insG	noncoding	Benign
9	712040	C	CAGCTGT	G712049C	KANK1	NM_015158.5(KANK1):c.1277_1282dup:p.Ala426_Val427dup	coding	Benign
9	729781	A	AG	A729782G	KANK1	NM_015158.5(KANK1):c.2699-270_2699-269insG	noncoding	Benign
9	729965	ATT	A	T729966A	KANK1	NM_015158.5(KANK1):c.2699-85_2699-84del	noncoding	Benign
9	734665	C	CA	T734676A	KANK1	NM_015158.5(KANK1):c.3246-73dup	noncoding	Benign
9	740769	CTTTTTT	C	T740782A	KANK1	NM_015158.5(KANK1):c.3554-10_3554-5del	noncoding	Benign/Likely_benign
9	740769	CTTTTTTT	C	T740781A	KANK1	NM_015158.5(KANK1):c.3554-11_3554-5del	noncoding	Benign
9	741247	GA	G	A741248C	KANK1	NM_015158.5(KANK1):c.3696+314del	noncoding	Benign
9	744222	CT	C	T744224C	KANK1	NM_015158.5(KANK1):c.3898-267del	noncoding	Benign
9	744242	T	TG	C744246G	KANK1	NM_015158.5(KANK1):c.3898-246dup	noncoding	Benign
9	842315	AC	A	C842317T	DMRT1	NM_021951.3(DMRT1):c.354+125del	noncoding	Benign
9	894335	CATAT	C	A894336G	DMRT1	NM_021951.3(DMRT1):c.822+141_822+144del	noncoding	Benign
9	967939	A	ACTCCCTTT	T967959C	DMRT1	NM_021951.3(DMRT1):c.968-45CTCCCTTT[3]	noncoding	Benign
9	967951	C	CCTTTCTCT	C967970T	DMRT1	NM_021951.3(DMRT1):c.968-33CTTTCTCT[3]	noncoding	Benign
9	2039233	CT	C	T2039246A	SMARCA2	NM_003070.5(SMARCA2):c.356-220del	noncoding	Benign
9	2047083	C	CT	C2047097T	SMARCA2	NM_003070.5(SMARCA2):c.791-133dup	noncoding	Benign
9	2047083	CT	C	T2047096C	SMARCA2	NM_003070.5(SMARCA2):c.791-133del	noncoding	Benign
9	2056861	G	GT	C2056862T	SMARCA2	NM_003070.5(SMARCA2):c.1347+16_1347+17insT	noncoding	Benign
9	2082305	A	AGG	T2082308G	SMARCA2	NM_003070.5(SMARCA2):c.2348+311_2348+312dup	noncoding	Benign
9	2082306	GGT	G	T2082350A	SMARCA2	NM_003070.5(SMARCA2):c.2348+312GT[21]	noncoding	Benign
9	2083325	G	GT	G2083338T	SMARCA2	NM_003070.5(SMARCA2):c.2349-10dup	noncoding	Benign
9	2083325	GT	G	T2083337G	SMARCA2	NM_003070.5(SMARCA2):c.2349-10del	noncoding	Benign
9	2084370	C	CTG	T2084418G	SMARCA2	NM_003070.5(SMARCA2):c.2526+175TG[24]	noncoding	Benign
9	2084370	C	CTGTG	T2084418G	SMARCA2	NM_003070.5(SMARCA2):c.2526+175TG[25]	noncoding	Benign
9	2084370	CTG	C	G2084416T	SMARCA2	NM_003070.5(SMARCA2):c.2526+175TG[22]	noncoding	Benign
9	2084370	CTGTG	C	G2084414T	SMARCA2	NM_003070.5(SMARCA2):c.2526+175TG[21]	noncoding	Benign
9	2084370	CTGTGTGTGTG	C	G2084408T	SMARCA2	NM_003070.5(SMARCA2):c.2526+175TG[18]	noncoding	Benign
9	2084370	CTGTGTGTGTGTG	C	G2084406T	SMARCA2	NM_003070.5(SMARCA2):c.2526+175TG[17]	noncoding	Benign
9	2088879	A	ATTTTTTT	A2088895T	SMARCA2	NM_003070.5(SMARCA2):c.2883+275_2883+281dup	noncoding	Benign
9	2088879	A	ATTTTTTTT	A2088895T	SMARCA2	NM_003070.5(SMARCA2):c.2883+274_2883+281dup	noncoding	Benign
9	2088879	A	ATTTTTTTTTTTT	A2088895T	SMARCA2	NM_003070.5(SMARCA2):c.2883+270_2883+281dup	noncoding	Benign
9	2088879	A	ATTTTTTTTTTTTT	A2088895T	SMARCA2	NM_003070.5(SMARCA2):c.2883+269_2883+281dup	noncoding	Benign
9	2097527	TA	T	A2097536C	SMARCA2	NM_003070.5(SMARCA2):c.3078+65del	noncoding	Benign
9	2097548	GA	G	A2097559C	SMARCA2	NM_003070.5(SMARCA2):c.3078+88del	noncoding	Benign
9	2097548	G	GA	C2097560A	SMARCA2	NM_003070.5(SMARCA2):c.3078+88dup	noncoding	Benign
9	2186078	GC	G	C2186082T	SMARCA2	NM_003070.5(SMARCA2):c.4462-14del	noncoding	Benign
9	2186304	AAGAGACTTTAGAGTGGGGC	A	G2186308T	SMARCA2	NM_003070.5(SMARCA2):c.4594+80_4594+98del	noncoding	Benign
9	2186330	G	GT	G2186331T	SMARCA2	NM_003070.5(SMARCA2):c.4594+102_4594+103insT	noncoding	Benign
9	2192379	A	AT	C2192389T	SMARCA2	NM_003070.5(SMARCA2):c.4738-316dup	noncoding	Benign
9	2644153	GT	G	T2644175G	VLDLR	NM_003383.5(VLDLR):c.1066+216del	noncoding	Benign
9	2644153	GTT	G	T2644174G	VLDLR	NM_003383.5(VLDLR):c.1066+215_1066+216del	noncoding	Benign
9	2647141	TCAGC	T	G2647148A	VLDLR	NM_003383.5(VLDLR):c.1704-326_1704-323del	noncoding	Benign
9	2718099	GA	G	A2718100C	KCNV2	NM_133497.4(KCNV2):c.361del:p.Thr121fs	coding	Pathogenic
9	2718227	AT	A	T2718230C	KCNV2	NM_133497.4(KCNV2):c.491del:p.Phe164fs	coding	Pathogenic
9	2718393	CGA	C	A2718395C	KCNV2	NM_133497.4(KCNV2):c.656_657del:p.Glu219fs	coding	Pathogenic
9	2718511	GC	G	C2718513G	KCNV2	NM_133497.4(KCNV2):c.774del:p.Ala259fs	coding	Pathogenic
9	2718518	AG	A	G2718520C	KCNV2	NM_133497.4(KCNV2):c.781del:p.Ala261fs	coding	Pathogenic
9	2718619	GGCGGCCCAGACCT	G	G2718628T	KCNV2	NM_133497.4(KCNV2):c.889_901del:p.Asp297fs	coding	Pathogenic
9	3855963	C	CA	T3855966A	GLIS3	NM_001042413.2(GLIS3):c.2473+44dup	noncoding	Benign
9	3932133	GCAGCTATGCAAACCATAGCCATAT	G	A3932178T	GLIS3	NM_001042413.2(GLIS3):c.1983+203_1983+226del	noncoding	Benign
9	4125633	A	AGT	A4125656G	GLIS3	NM_001042413.2(GLIS3):c.596+79AC[12]	noncoding	Benign
9	4125633	A	AGTGT	A4125656G	GLIS3	NM_001042413.2(GLIS3):c.596+79AC[13]	noncoding	Benign
9	4125633	A	AGTGTGT	A4125656G	GLIS3	NM_001042413.2(GLIS3):c.596+79AC[14]	noncoding	Benign
9	4125633	AGTGT	A	G4125652A	GLIS3	NM_001042413.2(GLIS3):c.596+79AC[9]	noncoding	Benign
9	5080892	CTTTT	C	T5080910G	JAK2	NM_004972.4(JAK2):c.2434+227_2434+230del	noncoding	Benign
9	6534717	TGCTGCCACCTCTCTGGAATAAGGCCGGTCCCAGTGGGAAG	T	G6534718A	GLDC	NM_000170.3(GLDC):c.2870_2909del:p.Ser957fs	coding	Pathogenic
9	6534749	AGT	A	T6534751G	GLDC	NM_000170.3(GLDC):c.2876_2877del:p.His959fs	coding	Pathogenic
9	6536077	AC	A	C6536080T	GLDC	NM_000170.3(GLDC):c.2824del:p.Val942fs	coding	Pathogenic
9	6550887	CTTGT	C	G6550890A	GLDC	NM_000170.3(GLDC):c.2481_2484del:p.Gln828fs	coding	Pathogenic/Likely_pathogenic
9	6554673	CG	C	G6554674A	GLDC	NM_000170.3(GLDC):c.2310del:p.Ile770fs	coding	Pathogenic
9	6556178	AG	A	G6556180T	GLDC	NM_000170.3(GLDC):c.2176del:p.Tyr725_Leu726insTer	coding	Pathogenic
9	6556241	AC	A	C6556245A	GLDC	NM_000170.3(GLDC):c.2113del:p.Val705fs	coding	Pathogenic
9	6588612	AACTACCAGTGGAATCATGCTGTGAACAAGGGAAATGTCTTTATTTTCCAGTTTCTTCATGTACCGGACAATGTTTGTTTCAGAGTGGTAGCTGTGAACACAAAACACAGAATTAGGGGCCCCAAAAGTAGAT	A	C6588614T	GLDC	NM_000170.3(GLDC):c.1581-42_1665+5del	noncoding	Pathogenic
9	6589198	T	TGTG	T6589199G	GLDC	NM_000170.3(GLDC):c.1576_1577insCAC:p.Asn526delinsThrHis	coding	Pathogenic
9	6592180	T	TC	A6592183C	GLDC	NM_000170.3(GLDC):c.1444dup:p.Asp482fs	coding	Pathogenic
9	6593268	G	GAT	A6593288T	GLDC	NM_000170.3(GLDC):c.1262-296AT[10]	noncoding	Benign
9	6594803	A	AAAAG	A6594835G	GLDC	NM_000170.3(GLDC):c.1261+183CTTT[8]	noncoding	Benign
9	6594803	A	AAAAGAAAG	A6594835G	GLDC	NM_000170.3(GLDC):c.1261+183CTTT[9]	noncoding	Benign
9	6594803	AAAAG	A	G6594831A	GLDC	NM_000170.3(GLDC):c.1261+183CTTT[6]	noncoding	Benign
9	6604594	AC	A	C6604599A	GLDC	NM_000170.3(GLDC):c.1051del:p.Gly350_Val351insTer	coding	Pathogenic
9	6604762	TCAGTAGCACAGCAGGCCAGGCTCTAGA	T	C6604763A	GLDC	NM_000170.3(GLDC):c.862-5_883del	coding	Pathogenic
9	6606309	C	CAA	G6606330A	GLDC	NM_000170.3(GLDC):c.713+263_713+264dup	noncoding	Benign
9	6606309	C	CA	G6606330A	GLDC	NM_000170.3(GLDC):c.713+263dup	noncoding	Benign
9	6606324	AAAAAAG	A	A6606327G	GLDC	NM_000170.3(GLDC):c.713+262_713+267del	noncoding	Benign
9	6610213	TC	T	C6610214T	GLDC	NM_000170.3(GLDC):c.613del:p.Glu205fs	coding	Pathogenic
9	6610226	TC	T	C6610230T	GLDC	NM_000170.3(GLDC):c.600del:p.Thr201fs	coding	Pathogenic
9	6610240	AG	A	G6610243A	GLDC	NM_000170.3(GLDC):c.586del:p.Leu196fs	coding	Pathogenic
9	6610299	TA	T	A6610302C	GLDC	NM_000170.3(GLDC):c.527del:p.Leu176fs	coding	Pathogenic
9	6610316	CCT	C	C6610317G	GLDC	NM_000170.3(GLDC):c.509_510del:p.Gln170fs	coding	Pathogenic
9	6620296	G	GAGTTTA	G6620301T	GLDC	NM_000170.3(GLDC):c.357_358insTAAACT:p.Leu120Ter	coding	Pathogenic
9	6620483	CA	C	A6620496G	GLDC	NM_000170.3(GLDC):c.335-165del	noncoding	Benign
9	6644640	C	CT	C6644645T	GLDC	NM_000170.3(GLDC):c.307dup:p.Arg103fs	coding	Pathogenic
9	6644656	TG	T	G6644658C	GLDC	NM_000170.3(GLDC):c.291del:p.Asn98fs	coding	Pathogenic
9	6645248	CA	C	A6645249G	GLDC	NM_000170.3(GLDC):c.251del:p.Leu84fs	coding	Pathogenic
9	6645377	GC	G	C6645379G	GLDC	NM_000170.3(GLDC):c.122del:p.Gly41fs	coding	Pathogenic
9	6645472	GC	G	C6645477A	GLDC	NM_000170.3(GLDC):c.27del:p.Leu10fs	coding	Pathogenic/Likely_pathogenic
9	6645684	CG	C	G6645685C	GLDC	NM_000170.3(GLDC):c.-186del	noncoding	Benign/Likely_benign
9	12694076	CA	C	A12694078G	TYRP1	NM_000550.3(TYRP1):c.82del:p.Arg28fs	coding	Pathogenic
9	12695690	CT	C	T12695693G	TYRP1	NM_000550.3(TYRP1):c.564del:p.Phe188fs	coding	Pathogenic
9	12704639	AT	A	T12704644G	TYRP1	NM_000550.3(TYRP1):c.1200del:p.Phe400fs	coding	Pathogenic
9	12704696	T	TA	C12704698A	TYRP1	NM_000550.3(TYRP1):c.1253dup:p.Tyr418Ter	coding	Pathogenic
9	13113995	GA	G	A13113998G	MPDZ	NM_001378778.1(MPDZ):c.5492del:p.Phe1831fs	coding	Pathogenic
9	13119493	A	AT	A13119500T	MPDZ	NM_001378778.1(MPDZ):c.5379+8dup	noncoding	Benign
9	13121844	T	TATAC	G13121846T	MPDZ	NM_001378778.1(MPDZ):c.5125_5126insGTAT:p.Tyr1709fs	coding	Pathogenic
9	13143484	TAG	T	A13143489T	MPDZ	NM_001378778.1(MPDZ):c.3820_3821del:p.Leu1274fs	coding	Pathogenic
9	13158105	ATG	A	G13158107C	MPDZ	NM_001378778.1(MPDZ):c.3363_3364del:p.Ile1122fs	coding	Pathogenic
9	13183558	CT	C	T13183559A	MPDZ	NM_001378778.1(MPDZ):c.2508del:p.Asp837fs	coding	Pathogenic
9	13186394	G	GA	T13186401A	MPDZ	NM_001378778.1(MPDZ):c.2365-9dup	noncoding	Benign
9	13188816	TC	T	C13188819T	MPDZ	NM_001378778.1(MPDZ):c.2331del:p.Thr778fs	coding	Pathogenic
9	13190094	TA	T	A13190098G	MPDZ	NM_001378778.1(MPDZ):c.2154+19del	noncoding	Benign
9	13190163	TC	AT	T13190163A	MPDZ	NM_001378778.1(MPDZ):c.2104_2105delinsAT:p.Glu702Met	coding	Benign
9	13193321	GA	G	A13193332G	MPDZ	NM_001378778.1(MPDZ):c.1657-9del	noncoding	Benign
9	13193321	G	GA	G13193333A	MPDZ	NM_001378778.1(MPDZ):c.1657-9dup	noncoding	Benign
9	13206024	GCA	G	C13206027G	MPDZ	NM_001378778.1(MPDZ):c.1364_1365del:p.Val455fs	coding	Pathogenic
9	13206048	A	ATACC	C13206054A	MPDZ	NM_001378778.1(MPDZ):c.1338_1341dup:p.Leu448fs	coding	Pathogenic
9	13219684	CT	C	T13219686G	MPDZ	NM_001378778.1(MPDZ):c.960del:p.Val321fs	coding	Pathogenic
9	13223689	CA	C	A13223694C	MPDZ	NM_001378778.1(MPDZ):c.414del:p.Phe138fs	coding	Pathogenic
9	14120611	TC	T	C14120612G	NFIB	NM_001190737.2(NFIB):c.1073del:p.Arg358fs	coding	Pathogenic
9	14740352	A	AG	A14740353G	FREM1	NM_001379081.2(FREM1):c.6255-119_6255-118insC	noncoding	Benign
9	14756320	C	CA	C14756330A	FREM1	NM_001379081.2(FREM1):c.5407+45dup	noncoding	Benign
9	14756456	GA	G	A14756465T	FREM1	NM_001379081.2(FREM1):c.5335-11del	noncoding	Benign
9	14775731	A	AAG	T14775732A	FREM1	NM_001379081.2(FREM1):c.4857+57_4857+58insCT	noncoding	Benign
9	14775731	A	AG	T14775732G	FREM1	NM_001379081.2(FREM1):c.4857+57_4857+58insC	noncoding	Benign
9	14784436	T	TC	A14784439C	FREM1	NM_001379081.2(FREM1):c.4375dup:p.Asp1459fs	coding	Pathogenic
9	14797415	G	GAC	C14797428A	FREM1	NM_001379081.2(FREM1):c.3839+71GT[7]	noncoding	Benign
9	16419668	A	AG	T16419676G	BNC2	NM_017637.6(BNC2):c.2640-20dup	noncoding	Benign
9	16738340	GA	G	A16738350C	BNC2	NM_017637.6(BNC2):c.129+19del	noncoding	Benign
9	20720318	GGT	G	G20720333T	FOCAD	NM_001375567.1(FOCAD):c.133-61GT[7]	noncoding	Benign
9	20740356	G	GT	A20740367T	FOCAD	NM_001375567.1(FOCAD):c.392+26dup	noncoding	Benign
9	20781497	AAG	A	A20781500T	FOCAD	NM_001375567.1(FOCAD):c.995-227_995-226del	noncoding	Benign
9	20782096	GA	G	A20782097T	FOCAD	NM_001375567.1(FOCAD):c.1197+168del	noncoding	Benign
9	20907198	G	GC	T20907201C	FOCAD	NM_001375567.1(FOCAD):c.2676dup:p.Trp893fs	coding	Pathogenic
9	20907334	G	GA	T20907339A	FOCAD	NM_001375567.1(FOCAD):c.2718+96dup	noncoding	Benign
9	20913145	TACACAC	T	A20913184G	FOCAD	NM_001375567.1(FOCAD):c.2807+192AC[19]	noncoding	Benign
9	20913145	TACAC	T	A20913186G	FOCAD	NM_001375567.1(FOCAD):c.2807+192AC[20]	noncoding	Benign
9	20913145	TAC	T	A20913188G	FOCAD	NM_001375567.1(FOCAD):c.2807+192AC[21]	noncoding	Benign
9	20913145	T	TACAC	G20913190A	FOCAD	NM_001375567.1(FOCAD):c.2807+192AC[24]	noncoding	Benign
9	20913145	T	TAC	G20913190A	FOCAD	NM_001375567.1(FOCAD):c.2807+192AC[23]	noncoding	Benign
9	20926139	TG	T	G20926140T	FOCAD	NM_001375567.1(FOCAD):c.2962-161del	noncoding	Benign
9	20932890	C	CT	A20932901T	FOCAD	NM_001375567.1(FOCAD):c.3318-114dup	noncoding	Benign
9	20948126	C	CTT	A20948129T	FOCAD	NM_001375567.1(FOCAD):c.3676-144_3676-143dup	noncoding	Benign
9	20978418	CT	C	T20978420G	FOCAD	NM_001375567.1(FOCAD):c.4343del:p.Leu1448fs	coding	Pathogenic
9	20995374	A	AAC	A20995376C	FOCAD	NM_001375567.1(FOCAD):c.5333-181_5333-180insCA	noncoding	Benign
9	21802469	T	TG	A21802470G	MTAP	Single_allele	noncoding	Benign
9	21815590	T	TAAA	G21815605A	MTAP	NM_002451.4(MTAP):c.120+83_120+85dup	noncoding	Benign
9	21815590	T	TAA	G21815605A	MTAP	NM_002451.4(MTAP):c.120+84_120+85dup	noncoding	Benign
9	21971072	AC	A	C21971074A	CDKN2A	NM_000077.5(CDKN2A):c.286del:p.Val96fs	coding	Pathogenic
9	21971106	CGTCGTGCACGGGTCGGGTGAGAGTGGCGGGGTCGGCGCAGTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCCATCATCATGACCTGCCAGAGAGAACAGAATGGTCAGAGCCAGGGTGGGGGCCGGCATGACGGAAAGGAAGCTTGTGTAGAGCCCCCTCACCGCCAAGCAGACCCCCACACAAGCCCCAGGTGTCTAATTACCCCTACATTTGCTTCCAGTTTCCAATTTCCTTCTTGAGTTCTCTATCCATTCTTCAGTACACAATGAATTCCATTATATCCTCCGAACTTCTGCGGAGCTGTCGTCACAGGCAGAGAGCACTGTGAGGCACGGGCAAAATAGCAAAGGGGCAGGGACAGACTGACTTTTACTCCAGGCTAACTTCCTGTATTTCCCCTGAGATACAACTACTGAAATTTCTTCCTGAAATTATGTTAGGCCTGGAGATTTTTTTTTTTTTTTTTGTTCACTGCTGTATATCCAAGCGCAGAATGTGGTAATTGTTAAAAAGAGAAAACTTGTTTGTTTGTTAAAACAAATTCTCACAAAACTTTTAAGTTACACTTAGCTTCTGGGAATGTTGAACTTCAATTTCTTTTTCATTATATTAGTTTTAAAATTATATATTGGGATAGTACAGTTGTATATATTTATGTGGTACAATATGAAGTTATGATCTTTGAACACAATGGGGAATTATTAAGTCAAGCTAAGTAACCTATCCATCATCTCAAATATTTGACATTTTTGTCAAATGAGAGCATTTGGGATTTACTATTTAGCTATATTCATCATGCTATGAAACACATCTCAAAAAAAACAATCAAACTTATTCCTCCCATCTTAACTGAGGCTTTATATCTTGATTACCATCTCCCCATTCCTCCCACCCCCCAGCTCTAGTAACCACCATTCTACTCTTTACTGCTAAGAATGTAATT	C	C21971109T	CDKN2A	NM_000077.5(CDKN2A):c.151-861_252del	coding	Pathogenic
9	21971130	TG	T	G21971132C	CDKN2A	NM_000077.5(CDKN2A):c.228del:p.Thr77fs	coding	Pathogenic
9	21971154	CC	AA	C21971154A	CDKN2A	NM_000077.5(CDKN2A):c.204_205delinsTT:p.Glu69Ter	coding	Pathogenic
9	21971163	GGAGCAGCAGCA	T	G21971163T	CDKN2A	NM_000077.5(CDKN2A):c.185_196delinsA:p.Leu62fs	coding	Pathogenic
9	21974701	T	TA	T21974703A	CDKN2A	NM_000077.5(CDKN2A):c.126dup:p.Ser43Ter	coding	Pathogenic
9	21974704	TC	T	C21974705G	CDKN2A	NM_000077.5(CDKN2A):c.123del:p.Asn42fs	coding	Pathogenic
9	21974705	CG	A	C21974705A	CDKN2A	NM_000077.5(CDKN2A):c.122_123delinsT:p.Pro41fs	coding	Pathogenic
9	21974721	GC	G	C21974726G	CDKN2A	NM_000077.5(CDKN2A):c.106del:p.Ala36fs	coding	Pathogenic
9	21974730	T	TC	A21974733C	CDKN2A	NM_000077.5(CDKN2A):c.97dup:p.Glu33fs	coding	Pathogenic
9	21974759	ACCCCGGGCCGCGGCCGTGGCCAGCCAGTCAG	A	C21974762G	CDKN2A	NM_000077.5(CDKN2A):c.38_68del:p.Ala13fs	coding	Pathogenic
9	21974784	CA	C	A21974785G	CDKN2A	NM_000077.5(CDKN2A):c.43del:p.Trp15fs	coding	Pathogenic
9	21974793	GA	G	A21974795G	CDKN2A	NM_000077.5(CDKN2A):c.34del:p.Ser12fs	coding	Pathogenic
9	21974804	G	GCTGCT	C21974811T	CDKN2A	NM_000077.5(CDKN2A):c.19_23dup:p.Ser8fs	coding	Pathogenic
9	21974805	C	CTGCT	C21974810T	CDKN2A	NM_000077.5(CDKN2A):c.19_22dup:p.Ser8fs	coding	Pathogenic
9	21994205	C	CTG	A21994206T	CDKN2A	NM_058195.4(CDKN2A):c.126_127insCA:p.Val43fs	coding	Pathogenic
9	26906081	TA	T	A26906092G	PLAA	NM_001031689.3(PLAA):c.1823-6del	noncoding	Benign
9	26906081	T	TA	G26906093A	PLAA	NM_001031689.3(PLAA):c.1823-6dup	noncoding	Benign
9	26919289	TC	T	C26919290A	PLAA	NM_001031689.3(PLAA):c.1417+20del	noncoding	Benign
9	26926567	TA	T	A26926573C	PLAA	NM_001031689.3(PLAA):c.566-8del	noncoding	Benign
9	26962058	CT	C	T26962059A	IFT74	NM_025103.4(IFT74):c.92del:p.Leu31fs	coding	Pathogenic
9	26984321	CAA	C	A26984322G	IFT74	NM_025103.4(IFT74):c.371_372del:p.Gln124fs	coding	Pathogenic
9	27011645	GT	G	T27011663G	IFT74	NM_025103.4(IFT74):c.727-243del	noncoding	Benign
9	27011645	GTT	G	T27011662G	IFT74	NM_025103.4(IFT74):c.727-244_727-243del	noncoding	Benign
9	27011887	C	CT	C27011898T	IFT74	NM_025103.4(IFT74):c.727-9dup	noncoding	Benign
9	27029022	CAG	C	A27029023G	IFT74	NM_025103.4(IFT74):c.975-2_975-1del	noncoding	Pathogenic
9	27047253	CTT	C	T27047254A	IFT74	NM_025103.4(IFT74):c.1109-20_1109-19del	noncoding	Benign
9	27056359	TATC	T	T27056361A	IFT74	NM_025103.4(IFT74):c.1525_1527del:p.Ser509del	coding	Benign
9	27056405	CA	C	A27056406T	IFT74	NM_025103.4(IFT74):c.1570del:p.Asn523_Ile524insTer	coding	Pathogenic
9	27204693	G	GT	A27204708T	TEK	NM_000459.5(TEK):c.2210-204dup	noncoding	Benign
9	27204693	G	GTT	A27204708T	TEK	NM_000459.5(TEK):c.2210-205_2210-204dup	noncoding	Benign
9	27204707	T	TA	T27204710A	TEK	NM_000459.5(TEK):c.2210-202dup	noncoding	Benign
9	27217518	CTGTT	C	T27217525C	TEK	NM_000459.5(TEK):c.2992-163_2992-160del	noncoding	Benign
9	27217757	GT	G	T27217758G	TEK	NM_000459.5(TEK):c.3062del:p.Val1021fs	coding	Pathogenic
9	27217785	A	AT	C27217794T	TEK	NM_000459.5(TEK):c.3062+35dup	noncoding	Benign
9	27217793	T	TC	T27217797C	TEK	NM_000459.5(TEK):c.3062+38dup	noncoding	Benign
9	27217831	A	AAAGAT	C27217838A	TEK	NM_000459.5(TEK):c.3062+75_3062+79dup	noncoding	Benign
9	27219030	C	CATGAACTTTATTATATATT	A27219051T	TEK	NM_000459.5(TEK):c.3103+215_3103+233dup	noncoding	Benign
9	27220086	C	CT	A27220088T	TEK	NM_000459.5(TEK):c.3142dup:p.Tyr1048fs	coding	Pathogenic
9	27229171	CCA	ACC	C27229171A	TEK	NM_000459.5(TEK):c.3314_3316delinsACC:p.Thr1105_Thr1106delinsAsnPro	coding	Pathogenic
9	27561467	A	ATGT	C27561471T	C9orf72	NM_018325.5(C9orf72):c.665+115_665+117dup	coding	Benign
9	32459521	CA	C	A32459526G	RIGI	NM_014314.4(RIGI):c.2338-8del	noncoding	Benign
9	32481502	T	TA	G32481519A	DDX58	NM_014314.4(DDX58):c.1481-21dup	noncoding	Benign
9	32485290	C	CAA	G32485301A	RIGI	NM_014314.4(RIGI):c.1376-13_1376-12dup	noncoding	Benign
9	32485290	C	CA	G32485301A	RIGI	NM_014314.4(RIGI):c.1376-21dup	noncoding	Benign
9	32488222	TCC	T	C32488223A	RIGI	NM_014314.4(RIGI):c.954-21_954-20del	noncoding	Benign
9	32488903	G	GA	G32488910A	RIGI	NM_014314.4(RIGI):c.800-17dup	noncoding	Benign
9	32493945	GA	G	A32493953G	RIGI	NM_014314.4(RIGI):c.242-4del	noncoding	Benign
9	32493954	G	GA	T32493963A	RIGI	NM_014314.4(RIGI):c.242-20dup	noncoding	Benign
9	32526055	ACT	A	T32526057A	RIGI	NM_014314.4(RIGI):c.106+4_106+5del	noncoding	Benign
9	32973711	CA	C	A32973729T	APTX	NM_001195248.2(APTX):c.875-60del	noncoding	Benign
9	32984762	CA	C	A32984763G	APTX	NM_001195248.2(APTX):c.638del:p.Leu213fs	coding	Pathogenic
9	32984804	AC	A	C32984805G	APTX	NM_001195248.2(APTX):c.596del:p.Arg199fs	coding	Pathogenic
9	32984813	T	TG	T32984817G	APTX	NM_001195248.2(APTX):c.587dup:p.Ala198fs	coding	Pathogenic
9	32986041	A	AC	A32986042C	APTX	NM_001195248.2(APTX):c.484-12_484-11insG	noncoding	Benign/Likely_benign
9	32986049	A	AC	A32986050C	APTX	NM_001195248.2(APTX):c.484-20_484-19insG	noncoding	Benign
9	32987724	CT	C	T32987725C	APTX	NM_001195248.2(APTX):c.302del:p.Glu101fs	coding	Pathogenic
9	32997368	C	CAG	A32997370G	APTX	NM_001195248.2(APTX):c.-5+4198_-5+4199insTC	noncoding	Benign
9	33116240	AT	A	T33116250G	B4GALT1	NM_001497.4(B4GALT1):c.837-128del	noncoding	Benign
9	34241315	AG	A	G34241318C	UBAP1	NM_016525.5(UBAP1):c.293del:p.Gly98fs	coding	Pathogenic
9	34343180	GA	G	A34343182G	NUDT2	NM_001161.5(NUDT2):c.186del:p.Ala63fs	coding	Pathogenic/Likely_pathogenic
9	34370703	TG	T	G34370706A	MYORG	NM_020702.5(MYORG):c.*95del	noncoding	Benign
9	34485203	CAGTT	C	T34485206A	DNAI1	NM_012144.4(DNAI1):c.146_149del:p.Val49fs	coding	Pathogenic
9	34485237	T	TG	C34485239G	DNAI1	NM_012144.4(DNAI1):c.178dup:p.Ala60fs	coding	Pathogenic
9	34489307	GC	G	C34489311T	DNAI1	NM_012144.4(DNAI1):c.262-12del	noncoding	Benign
9	34489323	GA	G	A34489325G	DNAI1	NM_012144.4(DNAI1):c.264del:p.Gly89fs	coding	Pathogenic
9	34489402	AC	A	C34489403T	DNAI1	NM_012144.4(DNAI1):c.342del:p.Ser115fs	coding	Pathogenic
9	34490087	CTG	C	T34490088A	DNAI1	NM_012144.4(DNAI1):c.465_466del:p.Glu156fs	coding	Pathogenic
9	34490422	G	GA	G34490424A	DNAI1	NM_012144.4(DNAI1):c.556dup:p.Arg186fs	coding	Pathogenic
9	34490430	TCA	T	A34490432T	DNAI1	NM_012144.4(DNAI1):c.565_566del:p.Leu188_Thr189insTer	coding	Pathogenic
9	34491533	CTT	C	T34491536C	DNAI1	NM_012144.4(DNAI1):c.663_664del:p.Ala223fs	coding	Pathogenic
9	34493199	GAT	G	A34493200C	DNAI1	NM_012144.4(DNAI1):c.688_689del:p.Ile230fs	coding	Pathogenic
9	34506673	G	GGGCATGCTGCTGCTCTACA	A34506674G	DNAI1	NM_012144.4(DNAI1):c.1110_1111insGGCATGCTGCTGCTCTACA:p.Lys371fs	coding	Pathogenic
9	34506687	TC	T	C34506690T	DNAI1	NM_012144.4(DNAI1):c.1127del:p.Pro376fs	coding	Pathogenic
9	34506753	ACCT	A	C34506754G	DNAI1	NM_012144.4(DNAI1):c.1191_1193del:p.Tyr397_Leu398delinsTer	coding	Pathogenic
9	34506764	G	GT	A34506766T	DNAI1	NM_012144.4(DNAI1):c.1202dup:p.Gly402fs	coding	Pathogenic
9	34512134	ACCAAAAC	A	C34512136T	DNAI1	NM_012144.4(DNAI1):c.1339_1345del:p.Gln447fs	coding	Pathogenic
9	34512141	CCTTAA	C	A34512145C	DNAI1	NM_012144.4(DNAI1):c.1348_1352del:p.Asn450fs	coding	Pathogenic
9	34512151	TTC	T	C34512155G	DNAI1	NM_012144.4(DNAI1):c.1358_1359del:p.Ser453fs	coding	Pathogenic
9	34517335	GC	G	C34517337T	DNAI1	NM_012144.4(DNAI1):c.1871del:p.Pro624fs	coding	Pathogenic
9	34517352	AG	A	G34517353A	DNAI1	NM_012144.4(DNAI1):c.1887del:p.Asn630fs	coding	Pathogenic
9	34637993	GC	AA	G34637993A	SIGMAR1	NC_000009.11:g.34637990_34637991delinsAA	noncoding	Benign
9	34645848	A	AT	A34645869T	GALT	NM_000155.3(GALT):c.-837dupT	noncoding	Benign
9	34645848	A	ATT	A34645869T	GALT	NM_000155.3(GALT):c.-838_-837dupTT	noncoding	Benign
9	34645848	A	ATTT	A34645869T	GALT	NM_000155.3(GALT):c.-839_-837dupTTT	noncoding	Benign
9	34645848	A	ATTTT	A34645869T	GALT	NM_000155.3(GALT):c.-840_-837dupTTTT	noncoding	Benign
9	34645848	A	ATTTTT	A34645869T	GALT	NM_000155.3(GALT):c.-841_-837dupTTTTT	noncoding	Benign
9	34645848	A	ATTTTTT	A34645869T	GALT	NM_000155.3(GALT):c.-842_-837dupTTTTTT	noncoding	Benign
9	34645848	A	ATTTTTTT	A34645869T	GALT	NM_000155.3(GALT):c.-843_-837dupTTTTTTT	noncoding	Benign
9	34645848	AT	A	T34645868A	GALT	NM_000155.3(GALT):c.-837delT	noncoding	Benign
9	34646057	AAG	A	A34646074G	GALT	NM_000155.3(GALT):c.-631_-630delAG	noncoding	Benign
9	34646720	AC	A	C34646722G	GALT	NM_000155.4(GALT):c.18del:p.Asp7fs	coding	Pathogenic/Likely_pathogenic
9	34646744	G	GT	C34646745T	GALT	NM_000155.4(GALT):c.40_41insT:p.Ala14fs	coding	Pathogenic
9	34647205	CG	C	G34647206C	GALT	NM_000155.4(GALT):c.200del:p.Arg67fs	coding	Pathogenic
9	34647525	GACA	G	A34647528G	GALT	NM_000155.4(GALT):c.289_291del:p.Asn97del	coding	Pathogenic/Likely_pathogenic
9	34647565	CA	C	A34647566G	GALT	NM_000155.4(GALT):c.327del:p.Gly110fs	coding	Pathogenic
9	34647835	GGTCAT	G	C34647838G	GALT	NM_000155.4(GALT):c.384_388del:p.Met129fs	coding	Pathogenic
9	34648339	GGCCAGCAGTTTCCT	G	C34648345A	GALT	NM_000155.4(GALT):c.576_589del:p.Ser192fs	coding	Pathogenic
9	34648451	AG	A	G34648453A	GALT	NM_000155.4(GALT):c.684del:p.Lys229fs	coding	Pathogenic
9	34648780	AGT	A	T34648782A	GALT	NM_000155.4(GALT):c.708_709del:p.Ser236fs	coding	Pathogenic
9	34648826	AC	CT	A34648826C	GALT	NM_000155.4(GALT):c.752_753delinsCT:p.Tyr251Ser	coding	Pathogenic/Likely_pathogenic
9	34648834	C	CT	G34648836T	GALT	NM_000155.4(GALT):c.761dup:p.Leu255fs	coding	Pathogenic/Likely_pathogenic
9	34648842	GC	G	C34648846G	GALT	NM_000155.4(GALT):c.772del:p.Arg258fs	coding	Pathogenic
9	34648863	GC	G	C34648864T	GALT	NM_000155.4(GALT):c.790del:p.Leu264fs	coding	Pathogenic
9	34648887	GC	G	C34648888G	GALT	NM_000155.4(GALT):c.814del:p.Arg272fs	coding	Pathogenic
9	34649082	GT	G	T34649083G	GALT	NM_000155.4(GALT):c.904+2del	coding	Pathogenic
9	34649414	T	TC	A34649418C	GALT	NM_000155.4(GALT):c.912dup:p.Thr305fs	coding	Pathogenic/Likely_pathogenic
9	34650282	C	CAAAAAAAAAAAAAA	T34650299A	GALT	NM_000155.4(GALT):c.1060-84_1060-71dup	noncoding	Benign
9	34650282	C	CAAAAAAAAA	T34650299A	GALT	NM_000155.4(GALT):c.1060-79_1060-71dup	noncoding	Benign
9	34654994	C	CGT	C34655018T	IL11RA	NM_001142784.3(IL11RA):c.1-223GT[12]	noncoding	Benign
9	34654994	CGT	C	T34655016C	IL11RA	NM_001142784.3(IL11RA):c.1-223GT[10]	noncoding	Benign
9	34655016	T	TGTGC	C34655018T	IL11RA	NM_001142784.3(IL11RA):c.1-201_1-200insTGCG	noncoding	Benign
9	34659852	G	GGCACCTGGA	C34659873A	IL11RA	NM_001142784.3(IL11RA):c.907ACCTGGAGC[3]:p.Ser308_Pro309insThrTrpSer	coding	Pathogenic
9	34660951	CAGA	C	A34660955T	IL11RA	NM_001142784.3(IL11RA):c.1252+19_1252+21del	noncoding	Benign
9	34661176	TCAGGGTATTAGTATTAGTACTAATACTCTTC	T	T34661188A	IL11RA	NM_001142784.3(IL11RA):c.1252+252_1253-264del	noncoding	Benign
9	34661552	G	GGATGGATGGACA	A34661556G	IL11RA	NM_001142784.3(IL11RA):c.*55_*57GATG[2]GACAGAT[1]	noncoding	Benign
9	34661759	CA	C	A34661760G	IL11RA	NM_001142784.3(IL11RA):c.*262del	noncoding	Benign
9	35058791	CA	C	A35058799C	VCP	NM_007126.5(VCP):c.2160+272del	noncoding	Benign
9	35074475	AAAGT	A	A35074480G	FANCG	NM_004629.2(FANCG):c.1652_1655del:p.Tyr551fs	coding	Pathogenic
9	35074478	G	GT	A35074480T	FANCG	NM_004629.2(FANCG):c.1652dup:p.Tyr551Ter	coding	Pathogenic
9	35075079	GC	G	C35075083T	FANCG	NC_000009.11:g.35075077del	coding	Pathogenic
9	35075497	AC	A	C35075500A	FANCG	NM_004629.2(FANCG):c.1400del:p.Gly467fs	coding	Pathogenic
9	35075587	A	ATC	T35075591C	FANCG	NM_004629.2(FANCG):c.1309_1310dup:p.Asp437fs	coding	Pathogenic
9	35075650	TAG	T	A35075653T	FANCG	NM_004629.2(FANCG):c.1246_1247del:p.Leu416fs	coding	Pathogenic
9	35076526	G	GT	A35076528T	FANCG	NM_004629.2(FANCG):c.981dup:p.Leu328fs	coding	Pathogenic
9	35076815	G	GC	T35076817C	FANCG	NM_004629.2(FANCG):c.832dup:p.Ala278fs	coding	Pathogenic
9	35077034	G	GC	T35077037C	FANCG	NM_004629.2(FANCG):c.713dup:p.Leu239fs	coding	Pathogenic
9	35077058	GC	G	C35077059T	FANCG	NM_004629.2(FANCG):c.689del:p.Ser230fs	coding	Pathogenic
9	35077349	TG	T	G35077354A	FANCG	NM_004629.2(FANCG):c.560del:p.Pro187fs	coding	Pathogenic
9	35077357	T	TC	A35077360C	FANCG	NM_004629.2(FANCG):c.552dup:p.Ser185fs	coding	Pathogenic
9	35078255	C	CA	G35078257A	FANCG	NM_004629.2(FANCG):c.395dup:p.Pro133fs	coding	Pathogenic
9	35078314	TG	T	G35078317C	FANCG	NM_004629.2(FANCG):c.336del:p.Arg113fs	coding	Pathogenic
9	35078694	ACAGT	A	T35078698C	FANCG	NM_004629.2(FANCG):c.214_217del:p.Thr72fs	coding	Pathogenic
9	35078861	A	AT	A35078864T	FANCG	NM_004629.2(FANCG):c.176-127dup	noncoding	Benign
9	35090457	AG	A	G35090462T	PIGO	NM_032634.4(PIGO):c.2854+8del	noncoding	Benign/Likely_benign
9	35091281	AGAAG	A	G35091286C	PIGO	NM_032634.4(PIGO):c.2602_2605del:p.Leu868fs	coding	Pathogenic
9	35091523	AGTGG	A	T35091525G	PIGO	NM_032634.4(PIGO):c.2360_2363del:p.Pro787fs	coding	Pathogenic
9	35091525	T	TG	C35091533G	PIGO	NM_032634.4(PIGO):c.2361dup:p.Thr788fs	coding	Pathogenic/Likely_pathogenic
9	35091629	GA	G	A35091631G	PIGO	NM_032634.4(PIGO):c.2257del:p.Ser753fs	coding	Pathogenic
9	35091804	TGAGATTACCATAGC	T	A35091806G	PIGO	NM_032634.4(PIGO):c.2069_2082del:p.Arg690fs	coding	Pathogenic
9	35091944	CA	C	A35091947C	PIGO	NM_032634.4(PIGO):c.1942del:p.Cys648fs	coding	Pathogenic
9	35092437	GGAGTA	G	T35092441G	PIGO	NM_032634.4(PIGO):c.1445_1449del:p.Leu482fs	coding	Pathogenic
9	35093906	CA	C	A35093907C	PIGO	NM_032634.4(PIGO):c.773del:p.Val258fs	coding	Pathogenic
9	35547242	G	GGATGCT	C35547249G	RUSC2	NM_014806.5(RUSC2):c.722_727dup:p.Ser243Ter	coding	Pathogenic
9	35555454	T	TC	A35555460C	RUSC2	NM_014806.5(RUSC2):c.2414dup:p.Glu806fs	coding	Pathogenic
9	35560263	TGGCCCG	T	C35560272G	RUSC2	NM_014806.5(RUSC2):c.3626CCCGGG[1]:p.1209AR[1]	coding	Benign
9	35560354	AGAAGAG	A	G35560366A	RUSC2	NM_014806.5(RUSC2):c.3720GGAAGA[1]:p.Glu1245_Glu1246del	coding	Benign
9	35560373	G	GA	G35560375A	RUSC2	NM_014806.5(RUSC2):c.3734dup:p.Glu1246fs	coding	Pathogenic
9	35657732	G	GTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC	C35657803T	RMRP	NC_000009.11:g.35657729_35657730insTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC	noncoding	Benign
9	35657752	CAGCCGCGCTG	C	C35657755A	RMRP	NR_003051.3(RMRP):n.257_266del	noncoding	Pathogenic
9	35657838	C	CG	C35657840G	RMRP	NR_003051.3(RMRP):n.180dup	noncoding	Pathogenic
9	35657893	G	GGGAATGTCTACGTA	G35657907A	RMRP	NR_003051.3(RMRP):n.125_126insTACGTAGACATTCC	noncoding	Pathogenic
9	35657920	G	GCA	T35657924A	RMRP	NR_003051.3(RMRP):n.97_98dup	noncoding	Pathogenic
9	35657925	C	CT	C35657927T	RMRP	NR_003051.3(RMRP):n.93dup	noncoding	Pathogenic
9	35658015	A	AACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG	C35658052A	RMRP	NR_003051.3(RMRP):n.-33_3dup	noncoding	Pathogenic
9	35658015	A	AACCACGTCCTCAGCTTCACAGAGT	G35658041C	RMRP	NC_000009.11:g.35658012_35658013insACCACGTCCTCAGCTTCACAGAGT	noncoding	Pathogenic
9	35658015	A	AACCACGTTCTCAGCTTCACAGAG	C35658023T	RMRP	NC_000009.11:g.35658012_35658013insACCACGTTCTCAGCTTCACAGAG	noncoding	Pathogenic
9	35658016	A	ACCACGTCCTCAGCTTCACAGAG	T35658039C	RMRP	NR_003051.3(RMRP):n.-20_2dup	noncoding	Pathogenic
9	35658016	A	ACCACGTC	T35658025C	RMRP	NC_000009.11:g.35658013_35658014insCCACGTC	noncoding	Pathogenic
9	35658017	C	CCACGTCCTCAGCTTCACAGAG	T35658039C	RMRP	NR_003051.3(RMRP):n.-20_1dup	noncoding	Pathogenic/Likely_pathogenic
9	35658017	C	CCACGTCCTCAGCTTCACAGAGTA	G35658041C	RMRP	NC_000009.11:g.35658014_35658015insCACGTCCTCAGCTTCACAGAGTA	noncoding	Pathogenic
9	35658017	C	CCACGTCCTCAGCTTCACAGAGTAG	T35658042C	RMRP	NC_000009.11:g.35658014_35658015insCACGTCCTCAGCTTCACAGAGTAG	noncoding	Pathogenic
9	35658017	C	CCACGTCCTCAGCTTCACAGAGTAGTAT	T35658045C	RMRP	NR_003051.3(RMRP):n.-26_1dup	noncoding	Pathogenic
9	35658017	C	CCACGTCCTCAGCTTCA	G35658036C	RMRP	NC_000009.11:g.35658014_35658015insCACGTCCTCAGCTTCA	noncoding	Pathogenic
9	35658017	C	CCACGTCCT	G35658028C	RMRP	NR_003051.3(RMRP):n.-7_1dup	noncoding	Pathogenic/Likely_pathogenic
9	35658017	C	CCACGTTCTCAGCTTCACAGA	C35658023T	RMRP	NC_000009.11:g.35658014_35658015insCACGTTCTCAGCTTCACAGA	noncoding	Pathogenic
9	35658018	C	CACGTCCTCAGCTTCACAGAG	T35658039A	RMRP	NC_000009.11:g.35658015_35658016insACGTCCTCAGCTTCACAGAG	noncoding	Pathogenic
9	35658018	C	CACGTCCTCAGCTTCACAGAGTAGT	T35658044C	RMRP	NC_000009.11:g.35658015_35658016insACGTCCTCAGCTTCACAGAGTAGT	noncoding	Pathogenic
9	35658018	C	CACGTCCTCAGCTTCACAGAGT	G35658041C	RMRP	NC_000009.11:g.35658015_35658016insACGTCCTCAGCTTCACAGAGT	noncoding	Pathogenic
9	35658018	C	CACGTTCTCAGCTTT	C35658023T	RMRP	NC_000009.11:g.35658015_35658016insACGTTCTCAGCTTT	noncoding	Pathogenic
9	35658019	A	ACGTCCTCAGCTT	A35658033G	RMRP	NR_003051.3(RMRP):n.-13_-2dup	noncoding	Pathogenic/Likely_pathogenic
9	35658019	A	ACGTCCTCAGCTTCAC	A35658035C	RMRP	NC_000009.11:g.35658016_35658017insCGTCCTCAGCTTCAC	noncoding	Pathogenic
9	35658019	A	ACGTCCTCAGCTTCACAGAG	T35658039C	RMRP	NR_003051.3(RMRP):n.-20_-2dup	noncoding	Pathogenic/Likely_pathogenic
9	35658019	A	ACGTCCTCAGCTTCACAGAGT	A35658040C	RMRP	NR_003051.3(RMRP):n.-21_-2dup	noncoding	Pathogenic/Likely_pathogenic
9	35658019	A	ACGTCCTCAGCTTCACAGAGTAG	T35658042C	RMRP	NC_000009.11:g.35658016_35658017insCGTCCTCAGCTTCACAGAGTAG	noncoding	Pathogenic
9	35658019	A	ACGTCCTCAGCTTCGTCCTCAGCTT	A35658033G	RMRP	NG_017041.1:g.4999_5000insAAGCTGAGGACGAAGCTGAGGACG	noncoding	Pathogenic
9	35658020	C	CGTCCTCAGCTTCACA	A35658037T	RMRP	NR_003051.3(RMRP):n.-17_-3dup15	noncoding	Pathogenic/Likely_pathogenic
9	35658020	C	CGTCCTCAGCTTCACAGAG	T35658039G	RMRP	NR_003051.3(RMRP):n.-20_-3dup	noncoding	Pathogenic/Likely_pathogenic
9	35658020	C	CGTCCTCAGCTTCACAGAGTAGTA	T35658044G	RMRP	NR_003051.3(RMRP):n.-25_-3dup	noncoding	Pathogenic/Likely_pathogenic
9	35658020	C	CGTTCTCAGCTTCACAGAGTAGTG	C35658023T	RMRP	NC_000009.11:g.35658017_35658018insGTTCTCAGCTTCACAGAGTAGTG	noncoding	Pathogenic
9	35658021	G	GTCCTCAGCTTCAC	A35658035T	RMRP	NR_003051.3(RMRP):n.-16_-4dup	noncoding	Pathogenic/Likely_pathogenic
9	35658021	G	GTCCTCAGCTTCACAGA	G35658038T	RMRP	NC_000009.11:g.35658018_35658019insTCCTCAGCTTCACAGA	noncoding	Pathogenic
9	35658021	G	GTCCTCAGCTTCACAGAGTAGT	A35658043T	RMRP	NR_003051.3(RMRP):n.-24_-4dup	noncoding	Pathogenic
9	35658021	G	GTCCTCAGCTTCACAGAGTAGTA	T35658045C	RMRP	NC_000009.11:g.35658018_35658019insTCCTCAGCTTCACAGAGTAGTA	noncoding	Pathogenic
9	35658021	G	GTTCTCAGCTTCACAGAGTA	C35658023T	RMRP	NC_000009.11:g.35658018_35658019insTTCTCAGCTTCACAGAGTA	noncoding	Pathogenic
9	35658022	T	TCCTCAGCTTCACAGA	G35658038C	RMRP	NR_003051.3(RMRP):n.-19_-5dup	noncoding	Pathogenic
9	35658022	T	TCCTCAGCTTCACAGAGTAGTA	T35658044C	RMRP	NC_000009.11:g.35658019_35658020insCCTCAGCTTCACAGAGTAGTA	noncoding	Pathogenic
9	35658022	T	TTCTCAGCTTCAC	C35658023T	RMRP	NC_000009.11:g.35658019_35658020insTCTCAGCTTCAC	noncoding	Pathogenic
9	35658023	C	CCTCAGCTT	A35658033T	RMRP	NR_003051.3(RMRP):n.-13_-6dup	noncoding	Pathogenic/Likely_pathogenic
9	35658023	C	CCTCAGCTTCACAGAGTAG	T35658042C	RMRP	NR_003051.3(RMRP):n.-23_-6dup	noncoding	Pathogenic/Likely_pathogenic
9	35658024	C	CTCAGCTT	C35658032T	RMRP	NR_003051.3(RMRP):n.-13_-7dup7	noncoding	Pathogenic/Likely_pathogenic
9	35658024	C	CTCAGCTTCACAGAGTA	G35658041T	RMRP	NC_000009.11:g.35658021_35658022insTCAGCTTCACAGAGTA	noncoding	Pathogenic
9	35658024	C	CTCAGCTTCACAGAGTAG	A35658043C	RMRP	NR_003051.3(RMRP):n.-23_-7dup17	noncoding	Pathogenic/Likely_pathogenic
9	35658024	C	CTCAGCTTCACAGAGTAGT	A35658043T	RMRP	NC_000009.11:g.35658021_35658022insTCAGCTTCACAGAGTAGT	noncoding	Pathogenic
9	35658024	C	CTCAGCTTCACAGAGTAGTAT	T35658046C	RMRP	NC_000009.11:g.35658021_35658022insTCAGCTTCACAGAGTAGTAT	noncoding	Pathogenic
9	35658024	C	CTCAGCTTCACAGAGTAGTATTT	A35658048C	RMRP	NC_000009.11:g.35658021_35658022insTCAGCTTCACAGAGTAGTATTT	noncoding	Pathogenic
9	35658024	C	CTCAGCTTCACAGAGTAGTCACGTCT	A35658043C	RMRP	NC_000009.11:g.35658021_35658022insTCAGCTTCACAGAGTAGTCACGTCT	noncoding	Pathogenic
9	35658024	C	CTCAGTTTCACAGAGTA	C35658029T	RMRP	NR_003051.3(RMRP):n.-7_-6ins16	noncoding	Pathogenic/Likely_pathogenic
9	35658025	T	TCAGCTTCA	A35658037C	RMRP	NR_003051.3(RMRP):n.-15_-8dup	noncoding	Pathogenic/Likely_pathogenic
9	35658025	T	TCAGCTTCACAGAGTCCC	A35658040C	RMRP	NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC	noncoding	Pathogenic/Likely_pathogenic
9	35658026	C	CAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT	T35658042C	RMRP	NC_000009.11:g.35658023_35658024insAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT	noncoding	Pathogenic
9	35658026	C	CAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT	T35658042C	RMRP	NC_000009.11:g.35658023_35658024insAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT	noncoding	Pathogenic
9	35658026	C	CAGCTTCACAGAGTAGTAGCTTCACAGAGTAGTAGCTTCACAGAGTAGTAGCTTCACAGAGTAGT	T35658044G	RMRP	NC_000009.11:g.35658023_35658024insAGCTTCACAGAGTAGTAGCTTCACAGAGTAGTAGCTTCACAGAGTAGTAGCTTCACAGAGTAGT	noncoding	Pathogenic
9	35658026	C	CAGCTTCACAGAGTAGT	T35658044G	RMRP	NR_003051.3(RMRP):n.-24_-9dup	noncoding	Pathogenic
9	35658026	C	CAGCTTCACAGAGT	T35658042C	RMRP	NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT	noncoding	Pathogenic/Likely_pathogenic
9	35658026	C	CAGCTTCACAG	T35658039C	RMRP	NR_003051.3(RMRP):n.-18_-9dup10	noncoding	Pathogenic/Likely_pathogenic
9	35658027	A	AGCTTCACAGAGGCTTCACAGAGGCTTCACAGAG	T35658039G	RMRP	NC_000009.11:g.35658024_35658025insGCTTCACAGAGGCTTCACAGAGGCTTCACAGAG	noncoding	Pathogenic
9	35658027	A	AGCTTCACAGAGTAGT	A35658043G	RMRP	NR_003051.3(RMRP):n.-24_-10dup	noncoding	Pathogenic/Likely_pathogenic
9	35658027	A	AGCTTCACAGAGTAGTAT	T35658045G	RMRP	NR_003051.3(RMRP):n.-26_-10dup	noncoding	Pathogenic/Likely_pathogenic
9	35658027	A	AGCTTCACAGAGTAGTGCTTCACAGAGTAGT	A35658043G	RMRP	NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC	noncoding	Pathogenic/Likely_pathogenic
9	35658028	G	GCTTCACAGAGTAGT	A35658043C	RMRP	NC_000009.11:g.35658025_35658026insCTTCACAGAGTAGT	noncoding	Pathogenic
9	35658029	C	CTTCACAGAG	A35658040T	RMRP	NR_003051.3(RMRP):n.-20_-12dup	noncoding	Pathogenic
9	35658029	C	CTTCACAGAGTAG	A35658043T	RMRP	NC_000009.11:g.35658026_35658027insTTCACAGAGTAG	noncoding	Pathogenic
9	35658029	C	CTTCACAGAGTAGT	A35658043T	RMRP	NR_003051.3(RMRP):n.-24_-12dup	noncoding	Pathogenic/Likely_pathogenic
9	35658030	T	TTCACAG	A35658037T	RMRP	NC_000009.11:g.35658027_35658028insTCACAG	noncoding	Pathogenic
9	35658030	T	TTCACAGAG	A35658040C	RMRP	NR_003051.3(RMRP):n.-20_-13dup	noncoding	Pathogenic/Likely_pathogenic
9	35658030	T	TTCACAGAGTA	G35658041T	RMRP	NR_003051.3(RMRP):n.-22_-13dup	noncoding	Pathogenic/Likely_pathogenic
9	35658030	T	TTCACAGAGTAG	A35658043C	RMRP	NR_003051.3(RMRP):n.-23_-13dup	noncoding	Pathogenic/Likely_pathogenic
9	35658030	T	TTCACAGAGTAGTA	T35658045C	RMRP	NR_003051.3(RMRP):n.-25_-13dup	noncoding	Pathogenic
9	35658030	T	TTCACAGAGTAGTATCACAGAGTAGTA	T35658045C	RMRP	NC_000009.11:g.35658027_35658028insTCACAGAGTAGTATCACAGAGTAGTA	noncoding	Pathogenic
9	35658031	T	TCACAGAGTA	G35658041C	RMRP	NR_003051.3(RMRP):n.-22_-14dup	noncoding	Pathogenic/Likely_pathogenic
9	35658031	T	TCACAGAGTAG	T35658042C	RMRP	NR_003051.3(RMRP):n.-23_-14dup10	noncoding	Pathogenic/Likely_pathogenic
9	35658032	C	CACAGAGTAGTATTTT	T35658049C	RMRP	NC_000009.11:g.35658029_35658030insACAGAGTAGTATTTT	noncoding	Pathogenic
9	35658032	C	CACAGAGTAGT	T35658044C	RMRP	NR_003051.3(RMRP):n.-24_-15dup10	noncoding	Pathogenic/Likely_pathogenic
9	35658032	C	CACAGAGT	G35658041C	RMRP	NC_000009.11:g.35658029_35658030insACAGAGT	noncoding	Pathogenic
9	35658033	A	ACAGAGTAG	T35658042C	RMRP	NC_000009.11:g.35658030_35658031insCAGAGTAG	noncoding	Pathogenic
9	35658034	C	CAGAGTAGT	T35658044G	RMRP	NR_003051.3(RMRP):n.-24_-17dup	noncoding	Pathogenic
9	35658035	A	AGAGTAGTAT	T35658045G	RMRP	NC_000009.11:g.35658032_35658033insGAGTAGTAT	noncoding	Pathogenic
9	35684812	A	AG	T35684818G	TPM2	NM_003289.4(TPM2):c.564-6dup	noncoding	Benign
9	35684824	G	GC	G35684826C	TPM2	NM_003289.4(TPM2):c.564-18dup	noncoding	Benign/Likely_benign
9	35684825	C	CGG	C35684834G	TPM2	NM_003289.4(TPM2):c.564-20_564-19dup	noncoding	Benign
9	35684825	CG	C	G35684833C	TPM2	NM_003289.4(TPM2):c.564-19del	noncoding	Benign
9	35685529	G	GGTT	T35685533G	TPM2	NM_003289.4(TPM2):c.394_396dup:p.Asn132dup	coding	Pathogenic
9	35738018	G	GCTC	T35738031C	GBA2	NM_020944.3(GBA2):c.2313+7GAG[5]	noncoding	Benign
9	35738100	CAT	C	T35738102A	GBA2	NM_020944.3(GBA2):c.2248_2249del:p.Met750fs	coding	Pathogenic
9	35738252	TAGGCTTCTTGG	T	A35738253C	GBA2	NM_020944.3(GBA2):c.2166_2176del:p.Gly722_Gln723insTer	coding	Pathogenic
9	35792465	TC	T	C35792468G	NPR2	NM_003995.4(NPR2):c.60del:p.Ala22fs	coding	Pathogenic
9	35792532	T	TGTGGC	G35792534T	NPR2	NM_003995.4(NPR2):c.125_126insTGGCG:p.Trp42fs	coding	Pathogenic
9	35792914	TG	T	G35792915T	NPR2	NM_003995.4(NPR2):c.507del:p.Tyr170fs	coding	Pathogenic
9	35799417	AAC	A	A35799444G	NPR2	NM_003995.4(NPR2):c.874-200AC[13]	noncoding	Benign
9	35801645	AGCTGAT	A	A35801650G	NPR2	NM_003995.4(NPR2):c.1444_1449del:p.Met482_Leu483del	coding	Pathogenic
9	35808636	G	GC	A35808639C	NPR2	NM_003995.4(NPR2):c.2842dup:p.His948fs	coding	Pathogenic
9	36219913	AG	A	G36219915A	GNE	NM_005476.7(GNE):c.1740del:p.Cys581fs	coding	Pathogenic/Likely_pathogenic
9	36219963	GC	G	C36219964A	GNE	NM_005476.7(GNE):c.1690del:p.Ala564fs	coding	Pathogenic
9	36220010	AC	A	C36220012A	GNE	NM_005476.7(GNE):c.1643del:p.Gly548fs	coding	Pathogenic
9	36222880	GAGATGCAAAGTGTCAGAAAGGGGGGTCCT	G	G36222882A	GNE	NM_005476.7(GNE):c.1501_1529del:p.Arg501fs	coding	Pathogenic
9	36227188	T	TA	T36227199A	GNE	NM_005476.7(GNE):c.1281+50dup	noncoding	Benign
9	36227308	T	TA	G36227310A	GNE	NM_005476.7(GNE):c.1220dup:p.Ser408fs	coding	Pathogenic
9	36227416	CA	C	A36227420T	GNE	NM_005476.7(GNE):c.1112del:p.Ile370_Leu371insTer	coding	Pathogenic
9	36228793	CAA	C	A36228812G	GNE	NM_005476.7(GNE):c.1070+226_1070+227del	noncoding	Benign
9	36228793	CA	C	A36228813G	GNE	NM_005476.7(GNE):c.1070+227del	noncoding	Benign
9	36228793	C	CA	G36228814A	GNE	NM_005476.7(GNE):c.1070+208dup	noncoding	Benign
9	36229093	T	TG	A36229095G	GNE	NM_005476.7(GNE):c.997dup:p.His333fs	coding	Pathogenic
9	36233666	CA	C	A36233679G	GNE	NM_005476.7(GNE):c.982+253del	noncoding	Benign
9	36233948	CAG	C	A36233949G	GNE	NM_005476.7(GNE):c.952_953del:p.Leu318fs	coding	Pathogenic
9	36234070	C	CCAA	A36234071C	GNE	NM_005476.7(GNE):c.831_832insTTG:p.Arg277_Ala278insLeu	coding	Pathogenic
9	36236873	AATGAG	A	G36236876A	GNE	NM_005476.7(GNE):c.723_727del:p.Ile241_Ser242insTer	coding	Pathogenic
9	36236906	AT	A	T36236911A	GNE	NM_005476.7(GNE):c.694del:p.Met232fs	coding	Pathogenic/Likely_pathogenic
9	36245961	AGGATTGAAATAGACGGAACATTTTCTGACAAAAACAGCCATTAGACTGACTAAAGTCTGAGATACGTACCTAGCCACATGCGAATGATGCTCATGTAGTCTTTGTTCTTGGCTGAGAGAAGTTTGTCATAGGAAGGGCAGCCTGCCAAAAGGATGCGATCATGGTCCTCACACATGGATATCAGGTGCTGCTCTGCACTGCGGGTGCAGCACACATGATAATGAGCCAGTTT	CTA	A36245961C	GNE	NM_005476.7(GNE):c.454_616+70delinsTAG	noncoding	Pathogenic
9	36246424	TTG	T	G36246430A	GNE	NM_005476.7(GNE):c.221_222del:p.Thr74fs	coding	Pathogenic
9	36246469	T	TTCGA	A36246475C	GNE	NM_005476.7(GNE):c.174_177dup:p.Met60fs	coding	Pathogenic
9	36246660	CT	C	T36246686G	GNE	NM_005476.7(GNE):c.165-179del	noncoding	Benign
9	36249386	AAAATAGAG	A	A36249387T	GNE	NM_001128227.3(GNE):c.55_62del:p.Glu18_Leu19insTer	coding	Pathogenic
9	36259404	ACAACCATTAAAAATTTACCACAGGTGAAACTAAGTCTAACAGTTCATTGAGATTTCTTGCTGTACAGCAAATTTCAAATCTCATCAAACTGCAGTTTGTGATGCATTTCAATTAATAATGAAGCTCTAATTTGTAAAATACTTATGAACTCTTAGTTCTCCTGTGGCTAGCTTGGAGCCACGAAAAGGTCACATTAGCCACAAAAGAAAAGACATTAAGGGATTTTTGCAAGGAAGTGCTATCAGATTTCTTTTTTGTTTGTTTGTTTGTTTTTGAGACAGGGTCCCACTCTATCGCCCAGGCTGGAGTACAGTGGTACGATCTCAGCTCACTGAAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCCGACCTTAGGTGATCCGCCCACTTTGGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACCACACCAGGCCCAGATTTCTTTTTTAAATCACACTGGCTGCTCTGTGGAGAATGGATTGGTAGCAGTGAAACTCAACTGAAGTGGATGGATATGATGTTTATTTTGGAAGTAAAATTGATGAGACTTAATTATAGGTTAGATATAAGGGGATGACAGGGAAAAAGACTCAAGAATGACCTCCGGGCCAGGTGTGGTGGCTCACACCTGCAGTCCCAGCACTTTGGAAGGCAGAGGTGGGAGGATCGCTTGTGCTCAGGAGTTCCAGGCAACAGTGAGCTCGATCAAACCACTGCACTCCAGCCTGGGTGCTGGATCGAGACCTCATCTCTTAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAATGACTTCCAGGTTTCTGCCATTAGGAATTGGGTGGTTGGTTGTGTGCTAAGATGAGAAAGGCTGGGAGAGTGACCTGGTTTGGGAAGAAAAAAGTAAAGTTTTAATTTAGGGCATGTTATGATTGAGATGCCTGTGAGCCACATGAAGCTATTAAATGTGCAGTGAGATATATGAATCTGAAGACAGACTCACCAGACTATAAATGGTGTATTAGTTTCACATATGCTGTAACAAATTACCACAAAATTAGGGTCTTTAAAACAACACAAATTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTGAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAACATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCCACAAATGTATTATCCTACAGTTTTGGACGTTAAGGATCCAAAATGGGTTTCAAGGGACCAAAATCAAGGTGTCAGTTGGGTTGCCTTCCTACTGGAGGCTGCCAGGGAGAATTCATTTTCTTCCCCCTTCCAGATTCTAGAGGCTGCCCACATTCCTTGGCACATGGCACCTCTGACTTCTGCCTCCCTTGCCACATCTTTTGTGACTCTACTGCCTTCCTCTCTCACTTAAAAAGACCCCGGTGATTACATTGGGTCCACTCAATAGTCCAAGATAATTTTCCCTCTCAAAGTCCTGGTCACATCTGCAAAGTCCCTCTTGCCAAGTAAGGAAACATGGTCACAGGTTCAGGGATTAAGATGTGGATATCTAGGCCAGGCACGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGACGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGACACCCCGTCTCTACTAAAGCAAAATTAGCCGGGGATGGTGGCGCACGCCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGAATAAATGGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGATGTGGATATCTTTGGGGAGCTATTTATTCTGCCTACCACAAGAGGTATTGAAAGTCACTTGAAGTCAGGTCAGGCGTGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCGAACACTTGTGAAAACCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGAGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAATCTCAAAAAAAAAAAAAAAAGAAAGTCACTTGAAGTCAAGATGGGTATGTTGCTTTTAAAGTTACATAGTGTACCTCCAAATATGCAGAATAGAACGTTAAATTTTTCTTCCTGAAAGGTAAGAAAAATTAACTTCAAAAACAATTTAAAATCTGGGTGCTGATTACATAGGTGTGTTTAGTTTGTAAAAACTCAAATTATATACGTAATATATATGTACCTTTTATGTGTATTTTACTGTAATGTGTTTTAAAAATAATGCTTAATATAGCTAGAAAAATATAACTATAAATATAAATACCTTTAACGGTAGGGAATACATTTTGAGAATTGTATGCACTTTCTAAGCCACCTGCAAGTTTTGTGTTTGACCAACACTGAGAATTTTATATTTCCATAATCATTTAACCTTAAATGAAATAATCTTTTTAGAATTTTCTTCTCTGCTTTCTTGAGATCAAATTGCAGCAAGGACCCTTAGGAGGCATTTTCTCTTGGCTTTTTGAGATCACTTTCCTATGGGTAAATAATATTACATTTCTGGATTTCTGTTACTTTACTGTTTAACATTGTGAATTGACATACCAAAAATCGTCACTAGTTAAGTTTGGTTTGTATGATTTGGTTTCATTTGACTTTAGTCTGAGAACTCTACAAGTTGCAAAAAAATTACTTATGGCTTTGTAGTATAATAAAATCAGATTTTTCTAGAGATTACTCCATAAGCATAAATATAACTTCAAGCATTCAGGGCATAACTAGGCTATCAATGACTCCTAGGCTTTAAGAGATCCTCTAATCTAACCTTCTCATCAGAGTGGGAGACCTTCCTACAGCACCCCTGACAGATGCTTATCTGGCCACTTTGGGAACATTTCTTGTAACAGACTTGTCTTATTTTATTTGGTGATTTAATTATTTTAAAGTACTCTGCCTCTCTGTAAATTCTACCCGTGTATTTCGTAGCCTAAACATTTCTAAACTAAAATAGCCTAAACTATTCTAAACATTGTATCTATATTCATCAGTACTCATAACAACATTAAGATGTAAATTCTGTATATACCCCCTACTTTACAGACAAAAAGACCAAAATACAGAAGGCGAAGTTGCCTGAGGTTGCACAGCTGTTAAACAGAAGAGCCCAGCCCTTGATCCCACTTGCTTAGCTACTACCACCCAGTGTTTCCTCTCTATACTAACTAGAGCATTGCACTTTATAACAGAAACCTATCTCAAGGTTCATCTCAGCCATCACTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTTGCCCAGGCTGGAGTGCAATGGCGTCATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTACAGACATGTGTCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAATTCTGACCTCAAATGATCTGCCCGCCTCGGCCAGGGCCCGGATTACAGGTATGAGCCACCGCGCCCGACCTACAGTCATCATTTTTTGGTTAAGTTGTTCCATTAGTTAAGAGTTCACATAACTCTTCTATTATCCAGCCCACATCTCTCTGAATGGCTCACATCAAGGTCTTAAGAGATTTTAAAAGACATCTTCTTTAAAATCAAGGTCTAATCTCTATGGCATTCTCCTGATGTATTAGTTTAGTGAGGCTTTCAAAAAAGAAAAGGACATTATTTGGCACAAATTTTTCCTAAAGTTTTTATTGAAGTGTTAATAAATACCTAAGCAGCACAGTTGAATTTCAAATTTTCATAAAGTAAAAACCGTCACTAAATGAAAGAGAGAAAATATCACCTGTGCCCATAGGCTGCCTCCTCAAGAGCTGCCTATTCATGACCCATGAAAAAACCTGGCACCAAGCCTGTGGCTAGCTAATAGTGACAATGGTAATTAGCTAATGTGCATGTTAAAGTAGCTCTCTGAAACATCTGGACTGGGGAATACGGAGAGGACTGGCCAGTTGGAAATGAAAGGAAAATGGGGCACCTTAAAAACATAGTCACAGATAGCTGTGAGAGGTAGCACAGGGAGGCCATAGGGAGAGAATCCAGGCCCTGACTTGACTTGAATCCTGAACAACTTTCTGATTTTAATCTACATGTATCCTTAAATCATCTTTTTATTTATTTATTTATTTTATTATGTTTTTTTTGGAGACAGAGTCTCACTCTGTCACCCAGGCTTGAGTGCAGTGGTGCTATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTAATTTTTGTGCCTCAGCTTCCCAAGTAATTGGGACTACAGGCAGGCACCACGATGCCCGGCTAAGTTTTTTTGTATTTTTTATAGAGATGGGGTTTCGTCATGTTGCCAGGATGGTCTCCAACTCCTGAGCTCAGGCAATCCGCCTGCCTTGGCCTACCAAAATGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCTAAATCCTCTTTTTAAAAAAGATGCCCTGTTCCTTGCATTCAGAAGATACTAACAGTAAAACTGTGAGCCAGGGAGAATCCCCAACCTTATTTCGATCCCCACTTCCAACCGATTGATGGTGGCTGCCTGGAGAACTGTGTCAAAAATGACTCTGGGGCTAGAGTTTACTGGAAAAGAGTATGTACTGTTGAGAGACAGGACTAGCTGGATTTCCTAGGCCGACTAAGAATCCCTAGGCCTAGTTAGGAAGGTGACCGCATCCACCTTTAAACATGGGGCTTGCAACTTAGCTCACACCCGACCAATCAGGTAGTAAAGAGAGCTCACTAAAATGCCAATCAGACAAAAACAGGAGGTAAAGAACTAACCAATCATCTATTGCCTGAGAGCACAGTGGGAGGGACAATGATCAGGATATAAAGCCAGGCATTCCAGCCGGCAACGGCTACCCTCTTTGGCTCCCCTCCCTTTGTATGGGAGCTGTGTTTTCACTCTATTAAATCTTGTAACTGCATACTCTTCTGGTCCGTGTTTGTACCGTGTTTGTTACCGCTCAAGCTAAGCTTTCGCTCGTTGTCCACCACTGCTGTTTGCCGCAGTCGCAGACCCGCCGCTGACTTCCACCCCTCCGGATCTGGCAGGGTGTCTGCTGTGCTCCTGATCCAGCGAGGCGCCCACTGCTGCTCCCGATCGGGCTGAAGGCTTGCCGTTGTTCCTGCACGGCAAGTGCCTGGGTTCGTCCTAATTGAGATGAACACTAGTCGCTGGGTTCTACGGTTCTCTTCCATGACCCACGTCTTCCAATAGAGCTATAACATTCACCGCATGGCCCAAGATTCCATTCCTTGGAATCCGTGGGGCCAAGAACCCCAGGTCAGAGAACGAGAGGCTTGCTGCCATCTTGGAAGCAACCCGCCACCATGTTGGGAGCTCTGGGAGCAAGGACCCCCGGTAACATTGTGATGTCTGCCATGTTGTTTTCTAGGGAGATGGAAGGGAGTCAAGGATGTTGCCATGTATGTGCCATCTCTGCCCTAAGCCAATATCATGAAGAAATCAACAAGAGGTGGAATAAACTGAGCAATTCATCACCATATTAAGCTGGATATTCCTGTTTAGTAAATATCTTTCCCTAGCTGGTAAGTATCTCACCCCATACTGTATCTCAGCCACAACACTTTTAATTACCAGAGTCTCTAGGGCAGCGGTCCCCAGTCTTTTTGGCACCAGGGACTGGTTTCCTGGAAGACAGTTTTTCCATGGGAAGTGGGGGTGGGGATGGTTTCAGGATGAAACTGTTCTACCTGAGATCATCAGGCATTAAATTCTCATAAGGAGCGTTCAACCTAGGTCCCTAGCATGCGCCGTTCACAATAGGATTTGTGCTTCTATGAGAATCTGATGCCACCACTGTTCTGACAGGAGGAGGAATGTAGACGGTAATGCTTGCTTGCCTGCCATTTATCTCCTATTATGCGGCCCAGTTATTTTTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTTCTTGGCTCACTGTAAGCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCGAGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGCGATTACAGGCATAAGCCACCGCGCCCGACCTGGCCTGCGGCCCAGTTCTTAACAAGACACTGGCCAGTACCAGTCCATGGCCCAGGGGTTGGGGACCCCCTACTCTAGAGTATACAGAGGTAAAACACACCTTACAAACCAGATATCACTGCATACGCCAGATTGTTTATAGCCTCCCCAGAAAAGAAAATTGCTCCTGTTGCAGAATAGCCTTATGAGGCTACACTACATGGGGAAAGCAATTCTTTTCTCCCAGGAAAAGCATGTAAGGATTAAGATTATATTG	A	C36259405G	GNE	NM_001128227.3(GNE):c.51+10408_52-10008del	noncoding	Pathogenic
9	36882267	TACACACAC	T	A36882288T	PAX5	NM_016734.3(PAX5):c.911-190GT[10]	noncoding	Benign
9	36882267	TAC	T	A36882294T	PAX5	NM_016734.3(PAX5):c.911-190GT[13]	noncoding	Benign
9	36882267	T	TACAC	T36882296A	PAX5	NM_016734.3(PAX5):c.911-190GT[16]	noncoding	Benign
9	36882267	T	TAC	T36882296A	PAX5	NM_016734.3(PAX5):c.911-190GT[15]	noncoding	Benign
9	37006211	A	AT	G37006221T	PAX5	NM_016734.3(PAX5):c.475+253dup	noncoding	Benign
9	37422524	CA	C	A37422525C	GRHPR	Single_allele	noncoding	Benign
9	37422772	A	AAGGT	G37422777A	GRHPR	NM_012203.2(GRHPR):c.23_26dup:p.Phe10fs	coding	Pathogenic
9	37424910	CG	C	G37424915C	GRHPR	NM_012203.2(GRHPR):c.154del:p.Ala52fs	coding	Pathogenic/Likely_pathogenic
9	37425981	GA	G	A37425984T	GRHPR	NM_012203.2(GRHPR):c.277del:p.Ile93fs	coding	Pathogenic
9	37426597	TCTC	ACCCTAGGAGGGCAAAGACCGCGGTGTGGAGACTGTGGGTGTGGGGAAGTGCATCCAAGGCCCTGGGTTCTCCAGCCCTGCCACAACCTTGCTCTGTGACCTCCAGCAAGACCCTGCCCCTTCTGGGCGTGTGCGTAGTATGAGGGAGGACCTAGCTCAGTGCCAAGCCCCAGCAGGATGTCTTTCCTCAACCGCAGCCACGGGTCTCAGCCCATGGAAGAATAAACCTCCCCCTGTGAGGCTGTTGTGACAGTTTTGAGAAAAGGTTCAGACTCAGAGGCTGCTACTTACCA	T37426597A	GRHPR	NM_012203.2(GRHPR):c.347_350delinsACCCTAGGAGGGCAAAGACCGCGGTGTGGAGACTGTGGGTGTGGGGAAGTGCATCCAAGGCCCTGGGTTCTCCAGCCCTGCCACAACCTTGCTCTGTGACCTCCAGCAAGACCCTGCCCCTTCTGGGCGTGTGCGTAGTATGAGGGAGGACCTAGCTCAGTGCCAAGCCCCAGCAGGATGTCTTTCCTCAACCGCAGCCACGGGTCTCAGCCCATGGAAGAATAAACCTCCCCCTGTGAGGCTGTTGTGACAGTTTTGAGAAAAGGTTCAGACTCAGAGGCTGCTACTTACCA:p.Val116_Ser117delinsAspProArgArgAlaLysThrAlaValTrpArgLeuTrpValTrpGlySerAlaSerLysAlaLeuGlySerProAlaLeuProGlnProCysSerValThrSerSerLysThrLeuProLeuLeuGlyValCysValValTer	coding	Pathogenic
9	37426610	T	TA	C37426612A	GRHPR	NM_012203.2(GRHPR):c.361dup:p.Thr121fs	coding	Pathogenic
9	37429768	T	TC	A37429771C	GRHPR	NM_012203.2(GRHPR):c.532dup:p.Gln178fs	coding	Pathogenic
9	37429769	CCA	C	C37429770G	GRHPR	NM_012203.2(GRHPR):c.532_533del:p.Gln178fs	coding	Pathogenic
9	37429825	AG	A	G37429827C	GRHPR	NM_012203.2(GRHPR):c.589del:p.Ala197fs	coding	Pathogenic
9	37432027	G	GA	C37432029A	GRHPR	NM_012203.2(GRHPR):c.755dup:p.Asp252fs	coding	Pathogenic/Likely_pathogenic
9	37436635	CCTCTCT	C	T37436647C	GRHPR	NM_012203.2(GRHPR):c.866-25CT[5]	noncoding	Benign
9	37784005	A	AT	A37784007T	EXOSC3	NM_016042.4(EXOSC3):c.382dup:p.Ile128fs	coding	Pathogenic
9	69012838	G	GGC	G69012840C	PRKACG	NM_002732.4(PRKACG):c.*198_*199insGC	noncoding	Benign
9	69216474	TC	T	C69216477T	TJP2	NM_004817.4(TJP2):c.239+14del	noncoding	Benign/Likely_benign
9	69216635	A	AT	A69216637T	TJP2	NM_004817.4(TJP2):c.239+173dup	noncoding	Benign
9	69221007	TACAGCGAGAG	T	A69221008G	TJP2	NM_004817.4(TJP2):c.464_473del:p.Gly154_Tyr155insTer	coding	Pathogenic
9	69226121	CA	C	A69226122G	TJP2	NM_004817.4(TJP2):c.1157del:p.Gln386fs	coding	Pathogenic
9	69228097	ACCAAGAGGACCCCCCAG	A	C69228098G	TJP2	NM_004817.4(TJP2):c.1438_1454del:p.Gln480fs	coding	Pathogenic
9	69228990	T	TA	T69228992A	TJP2	NM_004817.4(TJP2):c.1454-193dup	noncoding	Benign
9	69234370	TTTTC	T	C69234398T	TJP2	NM_004817.4(TJP2):c.1672-68TTTC[6]	noncoding	Benign
9	69234370	T	TTTTC	T69234402C	TJP2	NM_004817.4(TJP2):c.1672-68TTTC[8]	noncoding	Benign
9	69234370	T	TTTTCTTTC	T69234402C	TJP2	NM_004817.4(TJP2):c.1672-68TTTC[9]	noncoding	Benign
9	69234398	CT	C	T69234412C	TJP2	NM_004817.4(TJP2):c.1672-27del	noncoding	Benign
9	69237988	G	GT	C69237998T	TJP2	NM_004817.4(TJP2):c.2275+24dup	noncoding	Benign
9	69239821	TAAAC	T	A69239836G	TJP2	NM_004817.4(TJP2):c.2356-115AAAC[3]	noncoding	Benign
9	69240126	AC	A	C69240127G	TJP2	NM_004817.4(TJP2):c.2546del:p.Thr849fs	coding	Pathogenic
9	69246766	A	AGC	G69246770C	TJP2	NM_004817.4(TJP2):c.2645_2646dup:p.Val883fs	coding	Pathogenic
9	69385512	AC	A	C69385516T	FAM189A2	NM_001347995.2(FAM189A2):c.1163-279del	noncoding	Benign
9	69385763	CTT	C	T69385786A	FAM189A2	NM_001347995.2(FAM189A2):c.1163-9_1163-8del	noncoding	Benign
9	69385763	CTTT	C	T69385785A	FAM189A2	NM_001347995.2(FAM189A2):c.1163-10_1163-8del	noncoding	Benign
9	69385763	CTTTT	C	T69385784A	FAM189A2	NM_001347995.2(FAM189A2):c.1163-11_1163-8del	noncoding	Benign
9	69391887	C	CA	G69391896A	FAM189A2	NM_001347995.2(FAM189A2):c.*91dup	noncoding	Benign
9	70843129	T	TA	G70843140A	TRPM3	NM_001366145.2(TRPM3):c.677-12dup	noncoding	Benign
9	71685395	T	TAAA	G71685414A	CEMIP2	NM_013390.3(CEMIP2):c.3956-20_3956-18dup	noncoding	Benign/Likely_benign
9	72627898	AT	A	T72627910C	TMC1	NM_138691.3(TMC1):c.-195-11del	noncoding	Benign
9	72694627	AT	A	T72694628G	TMC1	NM_138691.3(TMC1):c.150del:p.Asn50fs	coding	Pathogenic
9	72700713	CATATATAT	C	T72700737C	TMC1	NM_138691.3(TMC1):c.362+71AT[11]	noncoding	Benign
9	72700713	CATAT	C	T72700741C	TMC1	NM_138691.3(TMC1):c.362+71AT[13]	noncoding	Benign
9	72700713	CAT	C	T72700743C	TMC1	NM_138691.3(TMC1):c.362+71AT[14]	noncoding	Benign
9	72700713	C	CAT	C72700745T	TMC1	NM_138691.3(TMC1):c.362+71AT[16]	noncoding	Benign
9	72700725	TATATATATATATATATATACACACACACACACACATACAC	T	T72700727C	TMC1	NM_138691.3(TMC1):c.362+84_362+123del	noncoding	Benign
9	72700743	T	TATAC	C72700745T	TMC1	NM_138691.3(TMC1):c.362+101_362+102insTACA	noncoding	Benign
9	72700761	T	TACAC	T72700781C	TMC1	NM_138691.3(TMC1):c.362+119AC[11]	noncoding	Benign
9	72700761	T	TAC	T72700781C	TMC1	NM_138691.3(TMC1):c.362+119AC[10]	noncoding	Benign
9	72755069	AGG	A	G72755071A	TMC1	NM_138691.3(TMC1):c.741+187_741+188del	noncoding	Benign
9	72755071	GGAGAGA	G	G72755092A	TMC1	NM_138691.3(TMC1):c.741+188GA[10]	noncoding	Benign
9	72755071	GGAGA	G	G72755094A	TMC1	NM_138691.3(TMC1):c.741+188GA[11]	noncoding	Benign
9	72755071	GGA	G	G72755096A	TMC1	NM_138691.3(TMC1):c.741+188GA[12]	noncoding	Benign
9	72755071	G	GGA	A72755098G	TMC1	NM_138691.3(TMC1):c.741+188GA[14]	noncoding	Benign
9	72755092	GAGAGAA	G	G72755096A	TMC1	NM_138691.3(TMC1):c.741+212_741+217del	noncoding	Benign
9	72789276	CA	C	A72789277G	TMC1	NM_138691.3(TMC1):c.1184del:p.Gln395fs	coding	Pathogenic
9	72826872	C	CA	T72826878A	TMC1	NM_138691.3(TMC1):c.2012dup:p.Asn671fs	coding	Pathogenic
9	72836220	C	CT	A72836236T	TMC1	NM_138691.3(TMC1):c.*262dup	noncoding	Benign
9	74630333	TC	T	C74630335A	RORB	NM_006914.4(RORB):c.61del:p.His21fs	coding	Pathogenic
9	74630351	CAT	C	A74630352G	RORB	NM_006914.4(RORB):c.78_79del:p.Thr26_Cys27insTer	coding	Pathogenic
9	74642621	AC	A	C74642623T	RORB	NM_006914.4(RORB):c.445del:p.Leu149fs	coding	Pathogenic
9	74739369	TG	T	G74739371T	TRPM6	NM_017662.5(TRPM6):c.5567del:p.Pro1856fs	coding	Pathogenic
9	74762976	TG	T	G74762977C	TRPM6	NM_017662.5(TRPM6):c.3694del:p.Gln1232fs	coding	Pathogenic
9	74771433	A	ACG	A74771445G	TRPM6	NM_017662.5(TRPM6):c.3536+260CG[6]	noncoding	Benign
9	74771941	T	TAA	G74771944A	TRPM6	NM_017662.5(TRPM6):c.3404-108_3404-107dup	noncoding	Benign
9	74800619	TAA	T	A74800633G	TRPM6	NM_017662.5(TRPM6):c.2010-139_2010-138del	noncoding	Benign
9	74800619	TA	T	A74800634G	TRPM6	NM_017662.5(TRPM6):c.2010-138del	noncoding	Benign
9	74804056	C	CA	T74804057A	TRPM6	NM_017662.5(TRPM6):c.1639-171_1639-170insT	noncoding	Benign
9	74812566	GA	G	A74812580G	TRPM6	NM_017662.5(TRPM6):c.1309-134del	noncoding	Benign
9	74816465	GA	G	A74816489C	TRPM6	NM_017662.5(TRPM6):c.1308+203del	noncoding	Benign
9	74816465	G	GAA	C74816490A	TRPM6	NM_017662.5(TRPM6):c.1308+180_1308+181dup	noncoding	Benign
9	74816465	G	GA	C74816490A	TRPM6	NM_017662.5(TRPM6):c.1308+180dup	noncoding	Benign
9	74839855	GAGGA	G	A74839892G	TRPM6	NM_017662.5(TRPM6):c.544+129TCCT[9]	noncoding	Benign
9	74839855	G	GAGGAAGGA	G74839896A	TRPM6	NM_017662.5(TRPM6):c.544+129TCCT[12]	noncoding	Benign
9	74839855	G	GAGGA	G74839896A	TRPM6	NM_017662.5(TRPM6):c.544+129TCCT[11]	noncoding	Benign
9	74887477	T	TCA	G74887480C	TRPM6	NM_017662.5(TRPM6):c.33+345_33+346dup	noncoding	Benign
9	76709230	A	ATGACTGTTGCAG	G76709231T	PRUNE2	NM_015225.3(PRUNE2):c.3043_3044insCTGCAACAGTCA:p.Leu1015delinsProAlaThrValMet	coding	Benign
9	77177748	T	TG	A77177754G	VPS13A	NM_033305.3(VPS13A):c.49dup:p.Asp17fs	coding	Pathogenic
9	77177775	C	CG	T77177777G	VPS13A	NM_033305.3(VPS13A):c.72dup:p.Ser25fs	coding	Pathogenic
9	77177781	A	AG	C77177783G	VPS13A	NM_033305.3(VPS13A):c.78dup:p.Leu27fs	coding	Pathogenic
9	77199768	CTG	C	G77199770T	VPS13A	NM_033305.3(VPS13A):c.101-175_101-174del	noncoding	Benign
9	77199936	C	CT	A77199943T	VPS13A	NM_033305.3(VPS13A):c.101-3dup	noncoding	Benign
9	77205225	C	CT	A77205226T	VPS13A	NM_033305.3(VPS13A):c.188-88_188-87insT	noncoding	Benign
9	77205332	TC	T	C77205334A	VPS13A	NM_033305.3(VPS13A):c.209del:p.Pro70fs	coding	Pathogenic
9	77205385	AT	A	T77205388A	VPS13A	NM_033305.3(VPS13A):c.263del:p.Leu88fs	coding	Pathogenic
9	77205421	TA	T	A77205428T	VPS13A	NM_033305.3(VPS13A):c.283+20del	noncoding	Benign/Likely_benign
9	77205995	TTAAAA	T	T77205996G	VPS13A	NM_033305.3(VPS13A):c.302_306del:p.Pro100_Leu101insTer	coding	Pathogenic
9	77206083	AAGAAAACAGT	A	G77206085A	VPS13A	NM_033305.3(VPS13A):c.385+6_385+15del	noncoding	Benign
9	77206324	ATT	A	T77206329A	VPS13A	NM_033305.3(VPS13A):c.385+250_385+251del	noncoding	Benign
9	77206328	T	TA	T77206329A	VPS13A	NM_033305.3(VPS13A):c.385+249_385+250insA	noncoding	Benign
9	77206329	T	TA	T77206330A	VPS13A	NM_033305.3(VPS13A):c.385+250_385+251insA	noncoding	Benign
9	77206329	T	TATA	T77206330A	VPS13A	NM_033305.3(VPS13A):c.385+250_385+251insATA	noncoding	Benign
9	77206329	T	TATATA	T77206330A	VPS13A	NM_033305.3(VPS13A):c.385+250_385+251insATATA	noncoding	Benign
9	77206329	T	TTA	C77206346T	VPS13A	NM_033305.3(VPS13A):c.385+251TA[9]	noncoding	Benign
9	77213286	TTTATC	T	T77213290G	VPS13A	NM_033305.3(VPS13A):c.672_676del:p.Tyr224_Ser226delinsTer	coding	Pathogenic
9	77213497	C	CT	G77213515T	VPS13A	NM_033305.3(VPS13A):c.696+200dup	noncoding	Benign
9	77213497	CT	C	T77213514G	VPS13A	NM_033305.3(VPS13A):c.696+200del	noncoding	Benign
9	77213497	CTT	C	T77213513G	VPS13A	NM_033305.3(VPS13A):c.696+199_696+200del	noncoding	Benign
9	77220396	A	AT	A77220412T	VPS13A	NM_033305.3(VPS13A):c.989+28dup	noncoding	Benign
9	77221171	C	CT	A77221179T	VPS13A	NM_033305.3(VPS13A):c.990-7dup	noncoding	Benign
9	77221186	TG	T	G77221189C	VPS13A	NM_033305.3(VPS13A):c.994del:p.Ala332fs	coding	Pathogenic
9	77221316	CAAGT	C	T77221320A	VPS13A	NM_033305.3(VPS13A):c.1125_1128del:p.Ser375fs	coding	Pathogenic
9	77221320	TA	T	A77221322G	VPS13A	NM_033305.3(VPS13A):c.1127del:p.Lys376fs	coding	Pathogenic
9	77226544	TGGTCTTGGTC	T	G77226545A	VPS13A	NM_033305.3(VPS13A):c.1304_1313del:p.Leu434_Trp435insTer	coding	Pathogenic
9	77226559	CAA	C	A77226562T	VPS13A	NM_033305.3(VPS13A):c.1321_1322del:p.Asn441fs	coding	Pathogenic
9	77227913	C	CT	C77227920T	VPS13A	NM_033305.3(VPS13A):c.1453-203dup	noncoding	Benign
9	77237984	C	CT	A77237995T	VPS13A	NM_033305.3(VPS13A):c.1596-8dup	noncoding	Benign
9	77238351	CA	C	A77238355C	VPS13A	NM_033305.3(VPS13A):c.1869del:p.Lys623fs	coding	Pathogenic
9	77238364	A	AT	C77238368T	VPS13A	NM_033305.3(VPS13A):c.1881dup:p.Arg628fs	coding	Pathogenic
9	77250198	T	TA	C77250200A	VPS13A	NM_033305.3(VPS13A):c.2140dup:p.Thr714fs	coding	Pathogenic
9	77252316	C	CGA	T77252317G	VPS13A	NM_033305.3(VPS13A):c.2252_2253insGA:p.Lys752fs	coding	Pathogenic/Likely_pathogenic
9	77260132	G	GA	T77260134A	VPS13A	NM_033305.3(VPS13A):c.2336dup:p.Asp779fs	coding	Pathogenic
9	77260201	TC	T	C77260202T	VPS13A	NM_033305.3(VPS13A):c.2405del:p.Ser802fs	coding	Pathogenic
9	77260208	CT	C	T77260209G	VPS13A	NM_033305.3(VPS13A):c.2412del:p.Val805fs	coding	Pathogenic
9	77273351	TG	T	G77273352T	VPS13A	NM_033305.3(VPS13A):c.2500del:p.Val834fs	coding	Pathogenic
9	77275810	C	CT	C77275811T	VPS13A	NM_033305.3(VPS13A):c.2667+158_2667+159insT	noncoding	Benign
9	77275811	C	CT	A77275822T	VPS13A	NM_033305.3(VPS13A):c.2667+169dup	noncoding	Benign
9	77276111	TG	T	G77276113T	VPS13A	NM_033305.3(VPS13A):c.2716del:p.Val905_Val906insTer	coding	Pathogenic
9	77276135	TG	T	G77276138T	VPS13A	NM_033305.3(VPS13A):c.2741del:p.Gly914fs	coding	Pathogenic
9	77281739	G	GTA	G77281759A	VPS13A	NM_033305.3(VPS13A):c.2905-127TA[10]	noncoding	Benign
9	77281739	GTA	G	A77281757G	VPS13A	NM_033305.3(VPS13A):c.2905-127TA[8]	noncoding	Benign
9	77282207	AG	A	G77282208A	VPS13A	NM_033305.3(VPS13A):c.3052del:p.Glu1018fs	coding	Pathogenic
9	77282279	G	GT	A77282286T	VPS13A	NM_033305.3(VPS13A):c.3118+11dup	noncoding	Benign
9	77282302	CT	C	T77282315A	VPS13A	NM_033305.3(VPS13A):c.3118+41del	noncoding	Benign
9	77283341	A	AT	G77283351T	VPS13A	NM_033305.3(VPS13A):c.3119-5dup	noncoding	Benign
9	77283341	AT	A	T77283350G	VPS13A	NM_033305.3(VPS13A):c.3119-5del	noncoding	Benign/Likely_benign
9	77283964	CT	C	T77283981G	VPS13A	NM_033305.3(VPS13A):c.3339+331del	noncoding	Benign
9	77293393	TG	T	G77293395A	VPS13A	NM_033305.3(VPS13A):c.3394del:p.Asp1132fs	coding	Pathogenic
9	77293455	ATAGT	A	A77293457G	VPS13A	NM_033305.3(VPS13A):c.3456_3459del:p.Ile1152fs	coding	Pathogenic
9	77293458	GT	G	T77293460G	VPS13A	NM_033305.3(VPS13A):c.3459del:p.Gly1154fs	coding	Pathogenic
9	77293481	T	TG	T77293483G	VPS13A	NM_033305.3(VPS13A):c.3481dup:p.Val1161fs	coding	Pathogenic
9	77295790	T	TC	A77295796C	VPS13A	NM_033305.3(VPS13A):c.3761dup:p.Pro1255fs	coding	Pathogenic
9	77302966	A	AT	A77302969T	VPS13A	NM_033305.3(VPS13A):c.3866dup:p.Leu1289fs	coding	Pathogenic
9	77307929	CT	C	T77307939A	VPS13A	NM_033305.3(VPS13A):c.3961-6del	noncoding	Benign/Likely_benign
9	77314496	C	CT	C77314499T	VPS13A	NM_033305.3(VPS13A):c.4246dup:p.Ser1416fs	coding	Pathogenic
9	77314532	TTGCTGAA	T	G77314534T	VPS13A	NM_033305.3(VPS13A):c.4282_4288del:p.Ala1428fs	coding	Pathogenic
9	77314535	CT	C	T77314536G	VPS13A	NM_033305.3(VPS13A):c.4284del:p.Glu1429fs	coding	Pathogenic
9	77315267	CAGTT	C	A77315268G	VPS13A	NM_033305.3(VPS13A):c.4428_4431del:p.Gly1478fs	coding	Pathogenic
9	77315642	A	AT	A77315649T	VPS13A	NM_033305.3(VPS13A):c.4630+178dup	noncoding	Benign
9	77316231	TTG	T	G77316235T	VPS13A	NM_033305.3(VPS13A):c.4692_4693del:p.Phe1565fs	coding	Pathogenic
9	77318246	TATTATAAATACTATGATTACCATAACTTCAGCACTGTATACAA	T	A77318247C	VPS13A	NM_033305.3(VPS13A):c.4969_5011del:p.Ile1657fs	coding	Pathogenic
9	77318301	A	AT	C77318303T	VPS13A	NM_033305.3(VPS13A):c.5024dup:p.Glu1677fs	coding	Pathogenic
9	77318351	TAC	T	C77318353A	VPS13A	NM_033305.3(VPS13A):c.5075_5076del:p.Thr1692fs	coding	Pathogenic
9	77318397	G	GA	T77318404A	VPS13A	NM_033305.3(VPS13A):c.5125dup:p.Ile1709fs	coding	Pathogenic
9	77318556	TCC	T	C77318558T	VPS13A	NM_033305.3(VPS13A):c.5280_5281del:p.Leu1761fs	coding	Pathogenic
9	77319628	A	AT	A77319629T	VPS13A	NM_033305.3(VPS13A):c.5370_5371insT:p.Ile1791fs	coding	Pathogenic
9	77321231	GC	G	C77321233A	VPS13A	NM_033305.3(VPS13A):c.5480del:p.Pro1827fs	coding	Pathogenic
9	77323132	G	GT	A77323134T	VPS13A	NM_033305.3(VPS13A):c.5897dup:p.Arg1967fs	coding	Pathogenic
9	77323138	CACAG	C	C77323140G	VPS13A	NM_033305.3(VPS13A):c.5904_5907del:p.His1968fs	coding	Pathogenic
9	77337252	CAGATCATTCATTTTTCTGAAGCCAGA	C	C77337257G	VPS13A	NC_000009.11:g.79952169_79952194delAGATCATTCATTTTTCTGAAGCCAGA	noncoding	Pathogenic
9	77337524	CTTATTATA	C	T77337526A	VPS13A	NM_033305.3(VPS13A):c.6367_6374del:p.Tyr2123fs	coding	Pathogenic
9	77339488	TG	T	G77339489T	VPS13A	NM_033305.3(VPS13A):c.6379-27del	noncoding	Benign
9	77339493	TG	T	G77339494T	VPS13A	NM_033305.3(VPS13A):c.6379-22del	noncoding	Benign
9	77339616	ATC	A	T77339619A	VPS13A	NM_033305.3(VPS13A):c.6482_6483del:p.Leu2161fs	coding	Pathogenic
9	77339767	A	AT	C77339771T	VPS13A	NM_033305.3(VPS13A):c.6633dup:p.His2212fs	coding	Pathogenic
9	77340389	A	AT	C77340399T	VPS13A	NM_033305.3(VPS13A):c.6880-6dup	noncoding	Benign/Likely_benign
9	77340529	GCT	G	C77340536T	VPS13A	NM_033305.3(VPS13A):c.7012_7013del:p.Ser2337_Leu2338insTer	coding	Pathogenic
9	77344279	G	GAAGT	G77344281A	VPS13A	NM_033305.3(VPS13A):c.7154_7155insAGTA:p.Leu2386fs	coding	Pathogenic
9	77344761	GA	G	A77344775G	VPS13A	NM_033305.3(VPS13A):c.7156-234del	noncoding	Benign
9	77351362	G	GT	A77351367T	VPS13A	NM_033305.3(VPS13A):c.7339dup:p.Tyr2447fs	coding	Pathogenic
9	77351394	G	GA	G77351397A	VPS13A	NM_033305.3(VPS13A):c.7369dup:p.Arg2457fs	coding	Pathogenic
9	77353377	G	GT	G77353393T	VPS13A	NM_033305.3(VPS13A):c.7420-17dup	noncoding	Benign
9	77353521	CAT	C	A77353524G	VPS13A	NM_033305.3(VPS13A):c.7535_7536del:p.Thr2511_Tyr2512insTer	coding	Pathogenic
9	77357695	C	CGCCT	A77357700G	VPS13A	NM_033305.3(VPS13A):c.7811_7814dup:p.Thr2606fs	coding	Pathogenic
9	77357803	CAA	C	A77357804T	VPS13A	NM_033305.3(VPS13A):c.7919_7920del:p.Gln2640fs	coding	Pathogenic
9	77358443	GT	G	T77358448A	VPS13A	NM_033305.3(VPS13A):c.8035+10del	noncoding	Benign
9	77360621	GA	G	A77360622G	VPS13A	NM_033305.3(VPS13A):c.8192del:p.Glu2731fs	coding	Pathogenic
9	77365547	GA	G	A77365549T	VPS13A	NM_033305.3(VPS13A):c.8301del:p.Glu2767fs	coding	Pathogenic
9	77366739	G	GT	C77366743T	VPS13A	NM_033305.3(VPS13A):c.8341dup:p.Ser2781fs	coding	Pathogenic
9	77366789	AG	A	G77366791A	VPS13A	NM_033305.3(VPS13A):c.8390del:p.Gly2797fs	coding	Pathogenic
9	77370737	T	TA	C77370742A	VPS13A	NM_033305.3(VPS13A):c.8908-149dup	noncoding	Benign
9	77370919	TACAA	T	C77370921A	VPS13A	NM_033305.3(VPS13A):c.8939_8942del:p.Thr2980fs	coding	Pathogenic
9	77384631	G	GTGA	G77384665T	VPS13A	NM_033305.3(VPS13A):c.9189+2545TGA[12]	coding	Benign
9	77403297	CAG	C	G77403299T	VPS13A	NM_033305.3(VPS13A):c.9253_9254del:p.Asp3085fs	coding	Pathogenic
9	77405934	T	TTTACCAAAGAGCCATTCATTGTTCATGGGAGAAGA	G77405972A	VPS13A	NM_033305.3(VPS13A):c.9349_9383dup:p.Arg3129fs	coding	Pathogenic
9	77405954	TG	T	G77405955T	VPS13A	NM_033305.3(VPS13A):c.9367del:p.Val3123fs	coding	Pathogenic
9	77406143	GA	G	A77406158C	VPS13A	NM_033305.3(VPS13A):c.9399+171del	noncoding	Benign
9	77407559	CAGAG	C	A77407562T	VPS13A	NM_033305.3(VPS13A):c.9429_9432del:p.Arg3143fs	coding	Pathogenic
9	78030887	C	CTG	C78030921G	GNAQ	NM_002072.5(GNAQ):c.136+181CA[17]	noncoding	Benign
9	78030887	C	CTGTG	C78030921G	GNAQ	NM_002072.5(GNAQ):c.136+181CA[18]	noncoding	Benign
9	78030887	C	CTGTGTG	C78030921G	GNAQ	NM_002072.5(GNAQ):c.136+181CA[19]	noncoding	Benign
9	78030887	CTG	C	G78030919C	GNAQ	NM_002072.5(GNAQ):c.136+181CA[15]	noncoding	Benign
9	78030887	CTGTGTGTG	C	G78030913C	GNAQ	NM_002072.5(GNAQ):c.136+181CA[12]	noncoding	Benign
9	78236409	AG	A	G78236410T	CEP78	NM_001330691.3(CEP78):c.60del:p.Glu20fs	coding	Pathogenic
9	78240110	G	GT	C78240111T	CEP78	NM_001330691.3(CEP78):c.341_342insT:p.Cys115fs	coding	Pathogenic
9	78241677	G	GT	C78241687T	CEP78	NM_001330691.3(CEP78):c.500-10dup	noncoding	Benign
9	78241677	GT	G	T78241686C	CEP78	NM_001330691.3(CEP78):c.500-10del	noncoding	Benign
9	78243819	CA	C	A78243832G	CEP78	NM_001330691.3(CEP78):c.778+196del	noncoding	Benign
9	78243819	C	CA	G78243833A	CEP78	NM_001330691.3(CEP78):c.778+196dup	noncoding	Benign
9	78246765	GA	G	A78246771T	CEP78	NM_001330691.3(CEP78):c.881del:p.Asn294fs	coding	Pathogenic
9	78248316	C	CAAAAAAGTCCTCCAGAATGGAA	G78248339A	CEP78	NM_001330691.3(CEP78):c.919_940dup:p.Arg314fs	coding	Pathogenic
9	78254825	C	CT	A78254833T	CEP78	NM_001330691.3(CEP78):c.1252-4dup	noncoding	Benign
9	78254893	G	GAGGTTGATGATTCTTCAACCCATGTGGACCAGGTTGGCCTCGAACTCGTGCCCTCGAACCCTCGCCTCTCTGAGGGTCCGAGGGCCCGCGCAACCGGCCGGAGCCACAATGGCTCC	G78254911A	CEP78	NM_001330691.3(CEP78):c.1326_1327insACCCATGTGGACCAGGTTGGCCTCGAACTCGTGCCCTCGAACCCTCGCCTCTCTGAGGGTCCGAGGGCCCGCGCAACCGGCCGGAGCCACAATGGCTCCAGGTTGATGATTCTTCA:p.Glu443fs	coding	Pathogenic
9	78262936	AAAGG	A	G78262940A	CEP78	NM_001330691.3(CEP78):c.1414_1417del:p.Glu472fs	coding	Pathogenic
9	78262940	GAAGA	G	A78262945G	CEP78	NM_001330691.3(CEP78):c.1419_1422del:p.Glu473_Arg474insTer	coding	Pathogenic
9	78262979	AG	A	G78262980T	CEP78	NM_001330691.3(CEP78):c.1454del:p.Ser485fs	coding	Pathogenic
9	78262990	TA	T	A78262994G	CEP78	NM_001330691.3(CEP78):c.1458+10del	noncoding	Benign
9	78304839	CT	TG	C78304839T	PSAT1	NM_058179.4(PSAT1):c.296_297delinsTG:p.Ala99Val	coding	Pathogenic/Likely_pathogenic
9	78305039	G	GT	G78305041T	PSAT1	NM_058179.4(PSAT1):c.397+100dup	noncoding	Benign
9	78317817	A	AT	A78317822T	PSAT1	NM_058179.4(PSAT1):c.869+17dup	noncoding	Benign
9	83969995	G	GT	A83969997T	HNRNPK	NM_031263.4(HNRNPK):c.1361+166dup	noncoding	Benign
9	83970642	ATT	A	T83970646G	HNRNPK	NM_031263.4(HNRNPK):c.1191+93_1191+94del	noncoding	Benign
9	83971313	GTATC	G	C83971317T	HNRNPK	NM_031263.4(HNRNPK):c.1048_1051del:p.Asp350fs	coding	Pathogenic
9	83971323	CAG	C	A83971326T	HNRNPK	NM_031263.4(HNRNPK):c.1040_1041del:p.Ser347fs	coding	Pathogenic
9	83972914	ACT	A	C83972917G	HNRNPK	NM_031263.4(HNRNPK):c.573_574del:p.Arg191fs	coding	Pathogenic
9	83972987	TA	T	A83972996T	HNRNPK	NM_031263.4(HNRNPK):c.517-16del	noncoding	Benign
9	83973064	AC	A	C83973070A	HNRNPK	NM_031263.4(HNRNPK):c.517-93del	noncoding	Benign
9	83973270	AT	A	T83973283A	HNRNPK	NM_031263.4(HNRNPK):c.516+15del	noncoding	Benign
9	83973367	GCAGT	G	G83973370A	HNRNPK	NM_031263.4(HNRNPK):c.431_434del:p.Asp144fs	coding	Pathogenic
9	83974079	AAAT	A	A83974083G	HNRNPK	NM_031263.4(HNRNPK):c.331-109_331-107del	noncoding	Benign
9	83974346	TA	T	A83974359C	HNRNPK	NM_031263.4(HNRNPK):c.330+170del	noncoding	Benign
9	83978331	TAA	T	A83978350G	HNRNPK	NM_031263.4(HNRNPK):c.-28+40_-28+41del	noncoding	Benign
9	83978331	TA	T	A83978351G	HNRNPK	NM_031263.4(HNRNPK):c.-28+41del	noncoding	Benign
9	84702151	TG	T	G84702152T	NTRK2	NM_006180.6(NTRK2):c.213-7del	noncoding	Benign
9	84745191	ACACCT	A	C84745192A	NTRK2	NM_006180.6(NTRK2):c.1296+119_1296+123del	noncoding	Benign
9	84752092	AG	A	G84752095T	NTRK2	NM_006180.6(NTRK2):c.1396+10del	noncoding	Benign
9	84860891	GTTTATTTA	G	A84860927T	NTRK2	NM_006180.6(NTRK2):c.1397-148TTTA[8]	noncoding	Benign
9	85020199	TC	T	C85020203A	NTRK2	NM_006180.6(NTRK2):c.2173-3del	noncoding	Benign
9	85021704	T	TC	T85021705C	NTRK2	NM_006180.6(NTRK2):c.*267_*268insC	noncoding	Benign
9	91214430	GA	G	A91214435C	AUH	NM_001698.3(AUH):c.943-6del	noncoding	Benign
9	91214646	GTTA	G	T91214651C	AUH	NM_001698.3(AUH):c.943-224_943-222del	noncoding	Benign
9	91216114	TA	T	A91216119C	AUH	NM_001698.3(AUH):c.895-9del	noncoding	Benign
9	91220987	T	TC	T91220994C	AUH	NC_000009.11:g.93983269_93983270insC	coding	Pathogenic
9	91298244	C	CA	C91298249A	AUH	NM_001698.3(AUH):c.506-172dup	noncoding	Benign
9	91356131	CTG	TGGAA	C91356131T	AUH	NM_001698.3(AUH):c.285_287delinsTTCCA:p.Arg96fs	coding	Pathogenic
9	91725094	T	TA	C91725095A	ROR2	NM_004560.4(ROR2):c.1399_1400insT:p.Glu467fs	coding	Pathogenic
9	91726566	ATTTCCATG	A	T91726568C	ROR2	NM_004560.4(ROR2):c.1353_1360del:p.Met452fs	coding	Pathogenic
9	91727778	AAGTGATTTCTGGTCAGTGTGAGGCCTAAAAGAGCTAACTCGGTTCTAAAAGTGAACATGCTACTGCCACCTTAGGAAAAAAGCACCTTGTCCCAAAACCCAGCCTTGCCCCACCCCTGCTCCCCCAAATAAGAAGAAATCAAGTAAAACCACAAACAAAACTTTCTTCTGGCCCCACCTAGCAGCTTCCCCTCTGAAAGGGTTCTGAGGCAGGTGTTCCAGAAATCTTCGGGGCACTGGGGATGCCGATTCATTCTTTTTTACTAGGGTTTGGTTCATTTTTCATTATTAAGGTTAGCAGGAGAGTCCAGGCCACTCTCACGCCAAGACCAGAGGTGTGAGCTCACACTGACACCATCACCTGCTTTTATTATCTACTTAACATTACCAACATGACTCATGCTTACTGGGAAAAACTGTAGTATTACAGAAATGTGGCCTTTCAAAAGATAGTATTTCTAACAGTCCTCTTTCCCAAAGGCTATAAATGGTTAAGTTTCGTGTTCTCCTAACTTTATGTATATTTTAGGTTGAACCACATGGAACAACCGATATTCAACTATTCTGACATATAGACACAGTAGTTTTATATGGTTTTCTTAATTCGAATGTTGAATGAACTTTATTTTATTTATTTTTGAGACAGAGTGTTTGTTTATTTATTTATTTTTGAGATGGAGTCTCGCTCTATCTCCTAGGCTGGAGGGCAGTGGTGGGATCTCAGTTCACTGCAACCTCTGCCCCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGACTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTATATGTTTAGTAGAGACAGGGTTTTGCACTGTTGGCCAGCCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTAAATGAACTTGATTTTAAATAGAATCGTGTCATCCATATTTTCCTGCTCCTGTTTTTTTGGCAGAATAAAATCTCTTGGACAGCAGCTCATGTTGGAGCAGATAGATATGTGTGTTCTCCCACAGCTGCATGCCACTCCACAGCACAGGCGTCTCCAACTGCCCCATCCAGCCCTACTGATAAACAGTCTGTTTTATGTTTAGCTCTCACAAGTGATTCTGCAATAAATATCCTTCCATTTATGCCCTGTAAGTACAAACCTGCGATACAAGATTCTAAGAATTGACTGGTCCAAAATCATACATTTTTTTCATGCTTTGATTTATTTTTAATTACAAAAGTAATTCCTACTCACTGTAAAAAAAAAAAAAAAAGTCTTGTATTTGAACACTTTTGTAGGTCTGGGGAAATCACTGCTAAAAGTTTGATATCCATCTTTCCAAAACCTCGTAAAAGTCAGGAGCCTGTGTGTGCTCACACACAAACTCCCACTCATTTTCCTTTTGCCAGAAACAAAACAATAAGCAAAAAAGCACCTCTAACACAGTTCTGTCCTACAACCTGCTTTTGTTCCTTACAGGGCACAGGGCCATCCTTCATTGCAGGACAGCTTTAAGGTCTGGAGTGCTCCAGAGTGCCTAGACCGCAATTTGAATGACTGATAATTTCATTCTTAAAATTTGTTCTCCCATAATGAACACATTCTTGAAGATTTGTGTCTGATCTGCTGAGCCAGAGGCAATGCCAAATCTGGAGCTGCTGAATCACACATCAGGAAGGTCATTAGTGCCAGTGTTTATTTCCTGCACTTCGGAGTAGAGACACGCGGGCCTGCACCCCAGGAGGAGATCTCCAGGTGCATGGTGAGCCCAGCCTCGCTTCACCGGCTGCTCTCTCTTTATCCGCGGGTGCCCACTCATTCACCAATTGCTGCTTCCAGCTCCCAGCCCAGCCTTGGTTACCCTGCTGCCTGGACTGGTGAACCGGGCATGACTAAGACAGAGGTGAGAACTGTCGAAGCTGTCAACCATCAGCCACGTGAGCTTCCATATTCATGACATTACAGACACACTTGCAAGGAATGAGGACAAGCAATGAATTCTATTTTCGCCTCACTCCACCAAACCTAAGTGTAAAATCTGAGAAGCAGTGAAAAGCTCAAAAGCTGGTGGGTGGAAGGGAAATATTTTTACGAATATTAGGAACTACTGAGCAATAATGGTGTTTTTTGTTTTTTGTTTTTGAGAAAAGGTCTTGTTTTGTTGCCTAGACTGGAGCGTAGTGGCACCATGATGGCTCACTGCAGCCTTGAACTACTGGGCTCAAGCAATCCTCCCACCTCCACCACCCAAGTAGGTGTGCCACCACGCCTGGACAATTTTTGTATTTTTTGTAGAGACGGGTTTTTGCCATGTTGCTCAGACTGGTTTCAAGCTCCTGGGTTCAAGAGATCCACCCGTCTTGGCCTCCCAAAGTACTGGGATTACAGGTTGTGAGCCACCGCACTGGGAGATAATGTTAATGGAGAAACAAAATGTCAAAGTGAATATCCCAGGACCATCCATACATGGGAAAAGGGCTGATGGAAGGGGGTGGGCCAAAACGCAAACAAGTCACTACTGGGTGGTAACATTAGGGGTGATCTGACATTACTCTTCAGACTTTTCTATATTTTAAAATGTCTTGTAATGGTCAGATGTTACTTTCATAACAACCAATAACTTGCGTTATTTATTTATTTATTTTTGAGACAGGGTCTCACTCTGCTGTCCATGCTGGAGTGCAGTGTCACAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGCTCAAGTGATTCTCCTGCCTCAGTCTCTTGAGTAGCTGGGATTACAGGCATGTGCCACCGCACCTGGCTAATTTTTGTATTTTTATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATCAGCCACTACGCGTGGCCCAACAGCTTTATTTAAAATGGTCACTGTGGTAAGATCAGGGGTCTCTGGTCGCCACCGTACAGAGGCACACCCCAACCCAGGTCAGGACAGAACGCCCTCATCACAAGGTTCACTCAACAATCAACACATTAAAAAAAGAGAGAGAGAATACATACTACACGAGGGTACGTCACACAGTTCCATGCGTACGTTTTTATTCTGCGTAAAGCACCAGGGGCCCTCCATCTGGCCTCCGGGGTTCCGGCAGTAGGCGTGCCCCCCTCCAAGCTCAGGGAAGTCTGTGCTGGACAGGTGGTGGCTGTGGGGGTGCTGCAGGGCCCACGGCTGGCACTGGTGGCCTGACTTGGTGGTGCTTGCCGTTCCTCTGTAATCCATGCCTGAGCCGTTATAGCACTGATGGTCTGAACAAGGAAAACACGTTAGGAAAACCTCCGGGGTACAACAAAACCATTCTGCCTACACATGCCCAAACTAGAATTTCCAAAAGATCCAAGGATTTTACATAACTTACCAGAAAAGAGGCATTAAAAGTAATGGCTTAATGAAGTCCCAAGCCCACAAATTAAATGCAGGGCACATCAGGGATAGGCATGGGGAAGGAAACTTGTCTAAAGTTATTCCACAGCCCCAGAACCATCTCTTGGGACCCACGAGGCACCTGCACACCACCACCCCACCAGAATGGGGATGTCTCCCCAGCCTCAGGATCAACTTGCTCTAGGAAGAAAGCCAACTGTGCAAGCAAGAAGGGCCTGGCCCCTCCATCTCAGGACACCCTGCTCAGCCATGGGTGAGAACAGTGCAGGCCACGCCACCTCCATGGAGGAACCCTGGGGTTGGGGTGTGCATTTGGTGAACATTTCTGTAGTGTTTACCATGTGTGGGGCGCTGCTCTAAACCCTCCTGGCTGGGGCACCGTGGCTAACAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCCCTGCTAAAAATACAAAAATTAGCCAGATGTGGTAACGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTCGAACCTGAGAGGTGGAGGTTGCAGTGAGCCAAGATTATGCCACTGCACTCCAGCCTCAGTGACAGAGTGAGACTCTGTCTCAAAAAAACAAAACAAACAAAAAAACCACCTTCCTAAATATTGCCTCATTTGACCTTCATTTCAGCCCCACGGGTTAGTACTGGTGTCATCCCCACGGAATATAAGGATATGAGAGCTTAGCAACTTGTCCAGGGTCACAATGAGGGTCTGAATGCAGGCAACGGGCCCAAGGACCAGGCCCTGGCTGGTCCTGGTAAGGAGTCCTGGCCATTCCTGGACCCCCAGATTAGCCAACGATGCTAAATACAGCCCCGGAGCTGTGGCGGAGGTGGCCCGTTCCCTAGGTCTCACTCCTCAGGGAGGCAACAACCCGTATGGATGCAGTGATGTCAGCCAATGGTTTTCCTCGGAGACATAAGCAGCGCTCCCTGTCCTGTGTCTGCCATCCTGACTGGCCATGGCCACCCTGCTGGGGCTCACAACTTGGGGTTTACTAAGCCTCCAGAGGGCAGGGGCTGCTGCCAGCAAGAGGGGCAGTGGGGAGCATGCTCTTCGTCCTGTGCAGACCCCAAACAGGCCACACCCAGGCCCCGGGCTCAGAACTGTCCCCCTCCCCCACGCTCATCCCTTAGGCCCCACGATTCAGGGACCTGTAGAAAGGTGCACGGTGCTTCCCTGTATTTCCTTCCCTAGTGATGCCTGATTGTTACAGGTTCTTCTCAGGTGCCCTCCCAGGCCAGTCCTGCAGCATCTCCGTGGGCCTCACATTCATCCAAGGCTAAGGATCCTACAGGTTTCTGGGGACTGATCCTCCAGGTTTCAGGAGGTTGGGGCAGGAGTTGAGAGTCTGCATTTTCGCCTGGCGGCCCGAGTGCGTGCTGACCGTCGGGCAAGTTAGGAAGCTGGCCCTGTCTCCTCTCATGCCCGCAACAGCCATTTCCACAGGAAGTGAGATCACTCCCATTTCAGAGAAGGGAAATCCCAGGCTCAAGCAGGTGGAGGGACTTCACCTGAGTCCCACAGCTGGACACAGTGCAAGCCCACATGCGAGCCTGGGGCTGAATGGCTCCAAAGCCCCTGATCCGAGGCCCCGCCTGCTGCCCTGCTGGAATGGAGGCCTAGGCTGTGGGGCCCTCGGCTGCTAAGGGGGTTCTGTGGGGCCTGGACAGATGGGGCTCCCTGGGCTTCACCGACACCCCCATACACATTTCAAGGGCCCTACACTCCCTGCGCCCCCCGGTCCCGCCCCGGGCCCTCGGGCACTCACAGCGGCCCAGCCTCTCGGCTGGGATGCCAATGCGCATGCAGTTGGCAGCGTCGGGGCTCTCAGGCATGGGCAGCGCCTCACACTTGGGCAGCTGAAGCCGCATGAGGATGAGCGGGTTGGAGCGGGCGATGGTGTACTCCTGGCGGCACAGGTCGCTCTCCAGCACCTCGCACTCGTCGCGGCACAGCTCACGCGGCTTGGGTGTCCGGGAGCGCGCGTCGCACAGAGGAAACACGAAGTGGCAGAAGGATGGGATGGCGAACTGTGAGCACTGGTCCGACAGGTGCGTAGACGTGCCGATCATGGTGAAGGCCGCTGCAGAGCCCGCGAGACTCGCGTTAGCGGGGGACCCACCTTGCGCCCTTGACATTCATCCAGTCCCCACCCCCAGCCTGGCATCCCAGACTGCCCACTCAGCCCCCTGATGCCCCGCCCCGCCCCAGACTCCCCAACCCCGAGCCCCGCACACCACCCTGGAGAGGCTCCCCACCAGCAGGCCAGCCTGCCCATCACCTGCTCTGATTTGCAGCAGTCACAGAAAAGTCCCTGGTCCCAGGGCCTCACTTAGAAACATCAGAAGCAGAACAAGAAAGAAGGAAAACTCGGCCCCCTAGCTCACTCCGCTAGGTGCTTCTTCCAGGACAAGAGGGTTCAGACTTCAGATGCAAAAGCAGATCCTAAGGACCCGCCATGTGTGGAGAGCGCAGGCCAAGAAGTGCAGTACCGAGCCCCAGGCTTCCCAATGTCCCAGATCTGTCTGGGGAGAAGGCTGTCCCGGAAGAGGGAGTCAGCTCAGCTCTGTGAACTGCAGCTGGAGGAGACAGTTGGTAAAATGCGGAAAGCCAAGAGGGTGAGAGCAGCAAAGTGGGAGGAGAGCCGCGTTACAACTCTGGAAGGTTCTGTGATAAGGGGGAGCAGAAAAACCCGAAGATCCAGAGCCCCCTTTGGTAGGGCGGTTTGTTTTTTAAGGGCAAGATGTCAGAGGATGCAGTTTGGTGGTTAGAAGATGGGGTGAGTTCGGGAACAAAGTGGGGGTGTTGGGGAGAGATCTGCTGCACCTGGGGTGCATGGCTGGACACTGGTAAGGGTGAAGAAGCTGGCCAAGGCAGGGCTCTAAGGAATGCATCAGCCTGCCCTGGGCTCACTACCCCATTTTCACCTGTGAAAGGCTGGCTTACAACAATTGAGCTTGGGGACAGTGGAGGCAGACAGGCCCCTTTGCCTGCACACCCAGCAGAGGCTGTGTCCTCCAGCGTGGCAGAAAACCCAGAAGCTGGCATTTAGTCCCTGAGGAGCCCTAACTCCACCCACGAATGCAGTTCAATCCCATCATTACAGATTTGGCGATTATTTGGTGATTATACAGAGGGCTGTCAAGAATGCTGGCCTTGACCTCCAGGCAAGGAAAGCGTGTAAGTGCTGTGCCAGGTTTGGCCAGCAGGTGGCAGTGCCGCTGTCAGTCATTCCCTGGGAACCCACCCAGGAACGGGATGGGCAGCTGTGTGGGAACAGCCTTGTGCGTGATCACTTTGTGGTATCACTCATGCCTTTCCGGGCCTGTTTCTGTACCTGAAGAGTGATTTGAGACCCCACACTGGGGAATGAGAGTGCACACAGAGCCTATAAAGTGGCCCTCAGCGTGAATGGGCCCAGGGGTCTGGTAAAAGGCGGCGTCAGTGGGCGGGAGCAGCCACGCTGTCCTGATTGTGTGCAGGCACTACTGTGCTCATCACATCACCTCCCCTCCTCTGGGTTCCTGTGGCCGATATTTAAATGGAGGAACAGAGAGGGCAAGCAGTTACAGTACAGGATGTCTTGGATTTGGAGGAAGAACTGAGGCTTCAACCCTGTTCAATCCCATCATTACAGATTTGGGATTATATGGATGGCTGTCAAAAATGTAGGTAGGCCTTGACCTCCAGGCAGGGAAAGATTGTCTAAGAATGCCAAAGCTGTCACTTCTCTTGGGCTAATCCACTGATAGGATGTCTCTGCTGATCTTTATAGGATTTCTCTTTCTCCTTCTCCTCACCCTGAGAATGTACTGCTTATTTCTGAAAGTGCAATTCTAGGCACAAAGAGATCCAACAACTCACATCCTGTTATCTGTCCACACCCTGAATGTCACACAACACTTTCCAACACAACACTGCACACAACGCAGTCATTACTATGCTTATTTCAAAACCACAAGTCTGTTGAGAGCAACTTCAAATTTACTGTTTTCAAAAAGCCACCCACCTAGAAAATCTTCATTCTAAACTCTTCTCTAAAAGATGCTATAAAACCAGGCTGCTTGGATGCAAGCTGATTCCTTAAACAACTCCTGAAGAGATAACTGAGGGACAATCTTGTGCCCTGGATCAGTGCTTGCCAATTAGTAGGGTGTCTAATTAATTCTGAGAGTCTGCAGCTAGCATTTTAAAAGATGGTAAGAACAGACTAGAGGATGTCAGAATGCACGGTTCCTACTAAGGGCTCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCTGGGGCTGGAGTGCAGTGGCGCGATCTGCAACTTCCACCTCTCGGGTTTAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATTTGCCCGCCTCAGCCTCCGAAAGTGCTAGGATTACAGGCGTGAGCCACCGTGCCCGGCCACTTTTTTATTTAATGAAATAAAACTGAAAAGAAAAATCCAAGTGCACCGCTTTTACGAAGGGTGAAAGTTATTCCCTGTAACCTATGTCAGTTGTGTGAAATACATGTATGTGTACACTAAGTCATGGCGTAAAGTATATTCTCTATTTTCCACTGTGTGTTTCGGTAAAAACCTTTGAGAAGTCCTACTTTAATGGCAAAGAAAGCTTTTGCAGTGAGAGGTAGCCATATTTTCAAAACCATCTCCCGCTGGAACAGGATGGCATCTCCAGGTTCCTCTCTGTCTCATGATGGCTCTTTCAGTTTGCACAGGACCCCCTGGCCCTGTCCTCAGAGGTCTCTGTACCAGCACATGGGCCAGGCAGTCTCTTCTGTGACCGTGAATGTGATGTTCGACTCTCTAGTCCGAGGGTGACCTGAACTTAGAAGGGCTTGTCAGTGACATGAGGTGACTTTCTGCCTTGGATCCTCATTGTCACCCCTTAACAGGTCAGTGCCCTGTATCCCCTTTGCCCCACCACACTCTCCCAGGAGCGCAGGCATCAGAGATCACCCACTGACTCTAATCTGCAGCAGAGCCTCCCGCTCCCATGGAGAGGATCCAACTAAACTGAGGTGCTGGGGCACCGGCCATCTGCACAGGATGTGTCTTGCTCCTTATGGGATCTGGAGAGAAAATGTGTATGTGTTTGTGGAGAGAGTAGAGACAGCAG	A	A91727779G	ROR2	NM_004560.4(ROR2):c.622+762_1184-1036del	noncoding	Pathogenic
9	91733383	AC	A	C91733384T	ROR2	NM_004560.4(ROR2):c.675del:p.Gln225fs	coding	Pathogenic
9	91733732	CT	C	T91733733A	ROR2	NM_004560.4(ROR2):c.623-297del	noncoding	Benign
9	91949883	TGA	T	A91949887C	ROR2	NM_004560.4(ROR2):c.79_80del:p.Ser29fs	coding	Pathogenic
9	92045989	TA	T	A92045993C	SPTLC1	NM_006415.4(SPTLC1):c.1136+9del	noncoding	Benign
9	92112502	AAAG	A	A92112506T	SPTLC1	NM_006415.4(SPTLC1):c.112CTT[1]:p.Leu39del	coding	Pathogenic/Likely_pathogenic
9	92265057	A	AAG	A92265059G	IARS1	NM_002161.6(IARS1):c.1571_1572insCT:p.Asp525fs	coding	Pathogenic
9	92265060	C	CTTTATCTATTCTAGTAT	A92265061T	IARS1	NM_002161.6(IARS1):c.1568_1569insATACTAGAATAGATAAA:p.Val523_Phe524insTyrTer	coding	Pathogenic
9	92474742	C	CTCA	T92474787A	ASPN;CENPP	NM_001012267.3(CENPP):c.564+94884TCA[15]	coding	Benign
9	92474742	C	CTCATCA	T92474787A	ASPN	NM_001012267.3(CENPP):c.564+94884TCA[16]	coding	Benign
9	92474742	C	CTCATCATCATCATCA	T92474787A	ASPN	NM_001012267.3(CENPP):c.564+94884TCA[19]	coding	Benign
9	92474742	CTCA	C	A92474784T	ASPN	NM_001012267.3(CENPP):c.564+94884TCA[13]	coding	Benign
9	92719120	CCTT	C	C92719124T	BICD2	NM_001003800.2(BICD2):c.1519AAG[1]:p.Lys508del	coding	Pathogenic
9	92764801	A	AGCC	T92764813C	BICD2	NM_001003800.2(BICD2):c.-66GGC[4]	noncoding	Benign
9	93497601	T	TA	C93497613A	FAM120A	NM_014612.5(FAM120A):c.933+13dup	noncoding	Benign
9	93558423	AG	A	G93558426A	FAM120A	NM_014612.5(FAM120A):c.2669-155del	noncoding	Benign
9	93564058	AGGTAGAGCATCTACC	A	G93564060C	FAM120A	NM_014612.5(FAM120A):c.3046-169_3046-155del	noncoding	Benign
9	93676722	C	CCCTGCCTCCACCACA	G93676725T	PHF2	NM_005392.4(PHF2):c.2963_2964insTGCCTCCACCACACC:p.982TPAST[4]	coding	Benign
9	94603132	CT	C	T94603140A	FBP1	NM_000507.4(FBP1):c.*248del	noncoding	Benign/Likely_benign
9	94617801	CA	C	A94617802C	FBP1	NM_000507.4(FBP1):c.392del:p.Val131fs	coding	Pathogenic
9	94639730	C	CCCAA	A94639731C	FBP1	NM_001127628.2(FBP1):c.-25+313_-25+314insTTGG	noncoding	Benign
9	94800852	CT	C	T94800853G	AOPEP	NM_001193329.3(AOPEP):c.1215del:p.Val406fs	coding	Pathogenic
9	94955258	CA	C	A94955259T	AOPEP	NM_001193329.3(AOPEP):c.1744del:p.Met582fs	coding	Pathogenic
9	95101730	T	TA	G95101733A	FANCC	NM_000136.3(FANCC):c.1653dup:p.Lys552Ter	coding	Pathogenic
9	95101753	T	TCTGATCTAGGGCTTTCTTTTTTTTTTNNNNNNNNNNTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A95101770T	FANCC	NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG:p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer	coding	Pathogenic
9	95107220	CTG	C	T95107221C	FANCC	NM_000136.3(FANCC):c.1377_1378del:p.Ser459fs	coding	Pathogenic
9	95111463	CAT	C	T95111465G	FANCC	NM_000136.3(FANCC):c.1327_1328del:p.Met443fs	coding	Pathogenic
9	95111592	GA	G	A95111594G	FANCC	NM_000136.3(FANCC):c.1199del:p.Phe400fs	coding	Pathogenic
9	95111613	G	GCT	A95111619T	FANCC	NM_000136.3(FANCC):c.1177_1178dup:p.Ser393fs	coding	Pathogenic/Likely_pathogenic
9	95111618	C	CA	G95111622A	FANCC	NM_000136.3(FANCC):c.1173dup:p.Glu392Ter	coding	Pathogenic
9	95117384	AC	A	C95117386G	FANCC	NM_000136.3(FANCC):c.1002del:p.Phe335fs	coding	Pathogenic
9	95117605	A	AAAATAAT	T95117610A	FANCC	NM_000136.3(FANCC):c.997-216_997-215insATTTATT	noncoding	Benign
9	95125124	GC	AA	G95125124A	FANCC	NM_000136.3(FANCC):c.957_958delinsTT:p.Gln320Ter	coding	Pathogenic
9	95125127	TA	T	A95125130C	FANCC	NM_000136.3(FANCC):c.954del:p.Phe318fs	coding	Pathogenic
9	95125164	ATC	A	T95125165G	FANCC	NM_000136.3(FANCC):c.916_917del:p.Asp306fs	coding	Pathogenic
9	95126561	AG	A	G95126564T	FANCC	NM_000136.3(FANCC):c.863del:p.Pro288fs	coding	Pathogenic
9	95135483	TG	T	G95135487A	FANCC	NM_000136.3(FANCC):c.705del:p.Met236fs	coding	Pathogenic
9	95149973	CT	C	T95149974G	FANCC	NM_000136.3(FANCC):c.635del:p.Gln212fs	coding	Pathogenic
9	95150013	AG	A	G95150018T	FANCC	NM_000136.3(FANCC):c.595del:p.Leu199fs	coding	Pathogenic/Likely_pathogenic
9	95150034	G	GT	A95150036T	FANCC	NM_000136.3(FANCC):c.574dup:p.Thr192fs	coding	Pathogenic
9	95171082	C	CT	G95171086T	FANCC	NM_000136.3(FANCC):c.517dup:p.Arg173fs	coding	Pathogenic
9	95171139	AC	A	C95171141A	FANCC	NM_000136.3(FANCC):c.460del:p.Val154fs	coding	Pathogenic
9	95172111	CA	C	A95172114T	FANCC	NM_000136.3(FANCC):c.381del:p.Phe127fs	coding	Pathogenic
9	95172129	GTA	G	A95172133G	FANCC	NM_000136.3(FANCC):c.362_363del:p.Ile121fs	coding	Pathogenic/Likely_pathogenic
9	95172134	TGAGA	T	G95172135T	FANCC	NM_000136.3(FANCC):c.355_358del:p.Ser119fs	coding	Pathogenic
9	95240651	GTA	G	A95240653C	FANCC	NM_000136.3(FANCC):c.341_342del:p.Ile114fs	coding	Pathogenic
9	95240653	A	ATCCAGGAGTTAAGTTTTGATTG	A95240681G	FANCC	NM_000136.3(FANCC):c.319_340dup:p.Ile114delinsThrIleLysThrTer	coding	Pathogenic
9	95240697	GTTAA	G	A95240701G	FANCC	NM_000136.3(FANCC):c.293_296del:p.Ile98fs	coding	Pathogenic
9	95240700	AATTAGACAAC	A	T95240703A	FANCC	NM_000136.3(FANCC):c.284_293del:p.Cys95fs	coding	Pathogenic
9	95240728	A	AT	G95240735T	FANCC	NM_000136.3(FANCC):c.265dup:p.Ile89fs	coding	Pathogenic
9	95247212	C	CGTGT	T95247237G	FANCC	NM_000136.3(FANCC):c.250+196AC[14]	noncoding	Benign
9	95247212	C	CGT	T95247237G	FANCC	NM_000136.3(FANCC):c.250+196AC[13]	noncoding	Benign
9	95247428	TTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAGGCATTATGCAACTTAGAAATACTGAACTGACATTATAGATTGAGGGAACGTGAATGCTTCTTGTTTAGTATACCATTTTTAAAAGTAAGCACAAAAGGATTAGAGAAGATCTTTAGGTAAGTAATTCAAATA	T	T95247429A	FANCC	NM_000136.3(FANCC):c.166-165_250+3del	noncoding	Pathogenic
9	95247453	TC	T	C95247455A	FANCC	NM_000136.3(FANCC):c.228del:p.Cys75_Trp76insTer	coding	Pathogenic
9	95247455	CA	C	A95247457C	FANCC	NM_000136.3(FANCC):c.226del:p.Trp76fs	coding	Pathogenic
9	95247480	CA	C	A95247482T	FANCC	NM_000136.3(FANCC):c.201del:p.Ile67fs	coding	Pathogenic
9	95249167	TG	T	G95249169A	FANCC	NM_000136.3(FANCC):c.124del:p.Gln42fs	coding	Pathogenic
9	95249182	T	TGA	A95249185G	FANCC	NM_000136.3(FANCC):c.108_109dup:p.His37fs	coding	Pathogenic/Likely_pathogenic
9	95249286	A	AG	C95249288G	FANCC	NM_000136.3(FANCC):c.5dup:p.Gln3fs	coding	Pathogenic/Likely_pathogenic
9	95317306	ACCTTCCGCCTCCCG	A	T95317310C	FANCC	NM_000136.3(FANCC):c.-79+206_-79+219del	noncoding	Benign
9	95317309	T	TCCCGCC	T95317310C	FANCC	NM_000136.3(FANCC):c.-79+216_-79+217insGGCGGG	noncoding	Benign
9	95449239	CG	C	G95449242C	PTCH1	NM_000264.5(PTCH1):c.3633del:p.Gly1212fs	coding	Pathogenic
9	95449839	A	AC	T95449842C	PTCH1	NC_000009.11:g.98212121_98212122insC	noncoding	Pathogenic
9	95449859	GA	G	A95449862G	PTCH1	NM_000264.5(PTCH1):c.3530del:p.Phe1177fs	coding	Pathogenic
9	95449891	CAT	C	A95449892T	PTCH1	NM_000264.5(PTCH1):c.3497_3498del:p.Asn1166fs	coding	Pathogenic
9	95453482	CAATG	C	T95453485G	PTCH1	NM_000264.5(PTCH1):c.3441_3444del:p.Phe1147fs	coding	Pathogenic
9	95453505	GC	G	C95453507A	PTCH1	NM_000264.5(PTCH1):c.3421del:p.Ala1141fs	coding	Pathogenic
9	95453593	TC	T	C95453594T	PTCH1	NM_000264.5(PTCH1):c.3333del:p.Asn1112fs	coding	Pathogenic
9	95456192	G	GC	A95456194C	PTCH1	NM_000264.5(PTCH1):c.3306+83dup	noncoding	Benign
9	95456272	ATACCAAAGCAAC	A	T95456273G	PTCH1	NM_000264.5(PTCH1):c.3298_3306+3del	noncoding	Pathogenic
9	95456336	G	GGGCAC	T95456347G	PTCH1	NM_000264.5(PTCH1):c.3241_3245dup:p.Val1083fs	coding	Pathogenic
9	95456396	CAG	C	A95456397C	PTCH1	NM_000264.5(PTCH1):c.3184_3185del:p.Leu1062fs	coding	Pathogenic
9	95458041	AG	A	G95458043A	PTCH1	NM_000264.5(PTCH1):c.3139del:p.Leu1047fs	coding	Pathogenic
9	95458082	GCTGATGAACAG	AACACCAA	G95458082A	PTCH1	NM_000264.5(PTCH1):c.3088_3099delinsTTGGTGTT:p.Phe1031fs	coding	Pathogenic
9	95458150	TGGGG	T	G95458151T	PTCH1	NM_000264.5(PTCH1):c.3027_3030del:p.Ser1008_Tyr1009insTer	coding	Pathogenic
9	95458150	TG	T	G95458154T	PTCH1	NM_000264.5(PTCH1):c.3030del:p.Asn1011fs	coding	Pathogenic
9	95458251	TA	T	A95458252G	PTCH1	NM_000264.5(PTCH1):c.2929del:p.Tyr977fs	coding	Pathogenic
9	95459614	TC	T	C95459615A	PTCH1	NM_000264.5(PTCH1):c.2872del:p.Glu958fs	coding	Pathogenic
9	95459664	GA	G	A95459665T	PTCH1	NM_000264.5(PTCH1):c.2822del:p.Ile941fs	coding	Pathogenic
9	95459744	T	TAATGATG	C95459752A	PTCH1	NM_000264.5(PTCH1):c.2736_2742dup:p.Asn915delinsHisHisTer	coding	Pathogenic
9	95461874	C	CT	A95461877T	PTCH1	NM_000264.5(PTCH1):c.2684dup:p.Pro896fs	coding	Pathogenic
9	95461963	CG	C	G95461965T	PTCH1	NM_000264.5(PTCH1):c.2595del:p.Ile868fs	coding	Pathogenic
9	95461973	G	GT	C95461975T	PTCH1	NM_000264.5(PTCH1):c.2585dup:p.Asp862fs	coding	Pathogenic
9	95461976	AC	A	C95461977T	PTCH1	NM_000264.5(PTCH1):c.2582del:p.Ser861fs	coding	Pathogenic
9	95461985	TG	T	G95461986C	PTCH1	NM_000264.5(PTCH1):c.2573del:p.Ala858fs	coding	Pathogenic
9	95467130	CT	C	T95467131G	PTCH1	NM_000264.5(PTCH1):c.2545del:p.Arg849fs	coding	Pathogenic
9	95467133	AAG	A	A95467134T	PTCH1	NM_000264.5(PTCH1):c.2541_2542del:p.Phe848fs	coding	Pathogenic
9	95467164	TG	T	G95467165T	PTCH1	NM_000264.5(PTCH1):c.2511del:p.Asn837fs	coding	Pathogenic
9	95467191	CG	C	G95467192T	PTCH1	NM_000264.5(PTCH1):c.2484del:p.Asn828fs	coding	Pathogenic
9	95467198	GA	G	A95467201C	PTCH1	NM_000264.5(PTCH1):c.2477del:p.Phe826fs	coding	Pathogenic
9	95467221	GTAAGTGCTGGA	G	A95467224T	PTCH1	NM_000264.5(PTCH1):c.2444_2454del:p.Ile815fs	coding	Pathogenic
9	95467237	CGGGT	C	G95467238A	PTCH1	NM_000264.5(PTCH1):c.2435_2438del:p.Asp811_Tyr812insTer	coding	Pathogenic
9	95467251	T	TCTGGGTGA	A95467262G	PTCH1	NM_000264.5(PTCH1):c.2417_2424dup:p.Lys809fs	coding	Pathogenic
9	95467293	AT	A	T95467295G	PTCH1	NM_000264.5(PTCH1):c.2382del:p.Gln794fs	coding	Pathogenic
9	95467305	TAA	T	A95467307G	PTCH1	NM_000264.5(PTCH1):c.2369_2370del:p.Phe790fs	coding	Pathogenic
9	95467305	TA	T	A95467308G	PTCH1	NM_000264.5(PTCH1):c.2370del:p.Phe790fs	coding	Pathogenic
9	95467305	T	TA	G95467309A	PTCH1	NM_000264.5(PTCH1):c.2370dup:p.Ile791fs	coding	Pathogenic
9	95467343	G	GT	A95467345T	PTCH1	NM_000264.5(PTCH1):c.2332dup:p.Thr778fs	coding	Pathogenic
9	95467353	G	GC	G95467357C	PTCH1	NM_000264.5(PTCH1):c.2322dup:p.Leu775fs	coding	Pathogenic
9	95467379	TA	T	A95467382G	PTCH1	NM_000264.5(PTCH1):c.2296del:p.Tyr766fs	coding	Pathogenic
9	95467403	A	AGAAAAAG	G95467414A	PTCH1	NM_000264.5(PTCH1):c.2266_2272dup:p.Leu758fs	coding	Pathogenic
9	95467407	AAAGG	A	G95467411A	PTCH1	NM_000264.5(PTCH1):c.2265_2268del:p.Leu756fs	coding	Pathogenic
9	95468642	AT	A	T95468655A	PTCH1	NM_000264.5(PTCH1):c.2250+108del	noncoding	Benign
9	95468795	CAA	C	A95468798G	PTCH1	NM_000264.5(PTCH1):c.2204_2205del:p.Phe735fs	coding	Pathogenic
9	95468797	AAAGAT	A	A95468798G	PTCH1	NM_000264.5(PTCH1):c.2199_2203del:p.Ser734fs	coding	Pathogenic
9	95468822	A	AG	C95468829G	PTCH1	NM_000264.5(PTCH1):c.2178dup:p.Cys727fs	coding	Pathogenic
9	95468828	G	GC	T95468830C	PTCH1	NM_000264.5(PTCH1):c.2172dup:p.Pro725fs	coding	Pathogenic
9	95468856	GA	G	A95468858C	PTCH1	NM_000264.5(PTCH1):c.2144del:p.Phe715fs	coding	Pathogenic
9	95468856	G	GA	C95468859A	PTCH1	NM_000264.5(PTCH1):c.2144dup:p.Ser716fs	coding	Pathogenic
9	95468942	C	CAG	T95468948G	PTCH1	NM_000264.5(PTCH1):c.2057_2058dup:p.Val687fs	coding	Pathogenic
9	95469136	ACT	A	C95469139G	PTCH1	NM_000264.5(PTCH1):c.1863_1864del:p.Arg621fs	coding	Pathogenic
9	95469904	C	CA	T95469909A	PTCH1	NM_000264.5(PTCH1):c.1755dup:p.Ala586fs	coding	Pathogenic
9	95469941	GA	G	A95469949T	PTCH1	NM_000264.5(PTCH1):c.1729-11del	coding	Benign/Likely_benign
9	95469941	G	GA	T95469950A	PTCH1	NM_000264.5(PTCH1):c.1729-11dup	coding	Benign
9	95476064	TGGGA	T	G95476065T	PTCH1	NM_000264.5(PTCH1):c.1694_1697del:p.Ile565fs	coding	Pathogenic
9	95476106	G	GGA	C95476109G	PTCH1	NM_000264.5(PTCH1):c.1654_1655dup:p.Ile553fs	coding	Pathogenic
9	95476167	T	TA	C95476175A	PTCH1	NM_000264.5(PTCH1):c.1603-9dup	noncoding	Benign
9	95476741	CTTT	C	T95476743G	PTCH1	NM_000264.5(PTCH1):c.1602+15_1602+17del	noncoding	Benign/Likely_benign
9	95476817	ACAT	A	A95476822C	PTCH1	NM_000264.5(PTCH1):c.1538ATG[1]:p.Asp514del	coding	Pathogenic
9	95476825	CACACCA	C	C95476833G	PTCH1	NM_000264.5(PTCH1):c.1524TGGTGT[1]:p.509GV[1]	coding	Pathogenic
9	95476864	CA	C	A95476869C	PTCH1	NM_000264.5(PTCH1):c.1504-8del	noncoding	Benign
9	95477569	G	GA	T95477573A	PTCH1	NM_000264.5(PTCH1):c.1480dup:p.Ser494fs	coding	Pathogenic
9	95477620	ACCAGCAGGACG	A	A95477626C	PTCH1	NM_000264.5(PTCH1):c.1419_1429del:p.Val474fs	coding	Pathogenic
9	95477685	TAGAC	T	A95477688G	PTCH1	NM_000264.5(PTCH1):c.1361_1364del:p.Ala453_Cys454insTer	coding	Pathogenic
9	95477694	AT	A	T95477695A	PTCH1	NM_000264.5(PTCH1):c.1355del:p.Tyr452fs	coding	Pathogenic
9	95478098	G	GA	G95478100A	PTCH1	NM_000264.5(PTCH1):c.1303dup:p.Ser435fs	coding	Pathogenic
9	95478140	G	GA	G95478144A	PTCH1	NM_000264.5(PTCH1):c.1261dup:p.Ser421fs	coding	Pathogenic
9	95478148	CT	C	T95478152G	PTCH1	NM_000264.5(PTCH1):c.1253del:p.Lys418fs	coding	Pathogenic
9	95478148	CTT	C	T95478151G	PTCH1	NM_000264.5(PTCH1):c.1252_1253del:p.Lys418fs	coding	Pathogenic
9	95478169	GAC	G	A95478172T	PTCH1	NM_000264.5(PTCH1):c.1231_1232del:p.Val411fs	coding	Pathogenic
9	95479017	GC	G	C95479019A	PTCH1	NM_000264.5(PTCH1):c.1197del:p.Trp399fs	coding	Pathogenic
9	95479980	TC	T	C95479982A	PTCH1	NM_000264.5(PTCH1):c.1055del:p.Gly352fs	coding	Pathogenic
9	95479984	GT	G	T95479985G	PTCH1	NM_000264.5(PTCH1):c.1051del:p.Thr351fs	coding	Pathogenic
9	95479987	C	CTGTT	C95479992T	PTCH1	NM_000264.5(PTCH1):c.1045_1048dup:p.Ser350fs	coding	Pathogenic
9	95480004	AC	A	C95480007A	PTCH1	NM_000264.5(PTCH1):c.1031del:p.Gly344fs	coding	Pathogenic
9	95480029	TG	T	G95480030C	PTCH1	NM_000264.5(PTCH1):c.1006del:p.His336fs	coding	Pathogenic
9	95480081	T	TA	T95480083A	PTCH1	NM_000264.5(PTCH1):c.954dup:p.Met319fs	coding	Pathogenic
9	95480419	C	CG	C95480424G	PTCH1	NM_000264.5(PTCH1):c.915dup:p.Ala306fs	coding	Pathogenic
9	95480419	CG	C	G95480423C	PTCH1	NM_000264.5(PTCH1):c.915del:p.Ala306fs	coding	Pathogenic
9	95480466	C	CCA	T95480469C	PTCH1	NM_000264.5(PTCH1):c.867_868dup:p.Gly290fs	coding	Pathogenic
9	95480482	CCTTATTCAGCATTTCCTCCCAGCTGTCCACTTGATAG	C	C95480483T	PTCH1	NM_000264.5(PTCH1):c.816_852del:p.Asn272fs	coding	Pathogenic
9	95480523	AT	A	T95480527C	PTCH1	NM_000264.5(PTCH1):c.811del:p.Lys270_Ile271insTer	coding	Pathogenic
9	95480528	C	CTT	A95480532T	PTCH1	NM_000264.5(PTCH1):c.805_806dup:p.Lys270fs	coding	Pathogenic
9	95480556	TCGAA	T	C95480557G	PTCH1	NM_000264.5(PTCH1):c.775_778del:p.Phe259fs	coding	Pathogenic
9	95480569	AC	A	C95480571G	PTCH1	NM_000264.5(PTCH1):c.765del:p.Trp256fs	coding	Pathogenic
9	95481948	CA	C	A95481949G	PTCH1	NM_000264.5(PTCH1):c.746del:p.Leu249fs	noncoding	Pathogenic
9	95481948	CAG	C	A95481949G	PTCH1	NM_000264.5(PTCH1):c.745_746del:p.Leu249fs	noncoding	Pathogenic
9	95481969	CTG	C	G95481971A	PTCH1	NM_000264.5(PTCH1):c.724_725del:p.Gln242fs	coding	Pathogenic
9	95481979	GC	G	C95481983T	PTCH1	NM_000264.5(PTCH1):c.715del:p.Ala239fs	coding	Pathogenic
9	95482024	T	TAAAGATATTCTATTATCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T95482042G	PTCH1	NC_000009.11:g.98244306_98244307insAAAGATATTCTATTATCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	coding	Pathogenic
9	95482034	C	CTT	A95482036T	PTCH1	NM_000264.5(PTCH1):c.660_661insAA:p.Glu221fs	coding	Pathogenic
9	95482136	G	GATCC	G95482143C	PTCH1	NM_000264.5(PTCH1):c.648_651dup:p.Gln218fs	coding	Pathogenic
9	95482148	CT	C	T95482149G	PTCH1	NM_000264.5(PTCH1):c.639del:p.Gly214fs	coding	Pathogenic
9	95482193	AT	A	T95482196C	PTCH1	NM_000264.5(PTCH1):c.594del:p.Lys198fs	coding	Pathogenic
9	95482201	TGCCTAATAAAATGAAAA	T	C95482204A	PTCH1	NM_000264.5(PTCH1):c.585-15_586del	coding	Pathogenic
9	95485683	A	ACCTGTTGTACATGTATACATGGACACGGCTGG	G95485720T	PTCH1	NM_000264.5(PTCH1):c.554_584+1dup	noncoding	Pathogenic
9	95485713	TG	T	G95485715C	PTCH1	NM_000264.5(PTCH1):c.555del:p.Ser186fs	coding	Pathogenic
9	95485765	ATTAGCACCTTC	A	A95485768C	PTCH1	NM_000264.5(PTCH1):c.493_503del:p.Glu165fs	coding	Pathogenic
9	95485766	T	TTA	G95485769T	PTCH1	NM_000264.5(PTCH1):c.501_502dup:p.Asn168fs	coding	Pathogenic
9	95485771	AC	A	C95485773T	PTCH1	NM_000264.5(PTCH1):c.497del:p.Gly166fs	coding	Pathogenic
9	95485812	AC	A	C95485813A	PTCH1	NM_000264.5(PTCH1):c.456del:p.Met152fs	coding	Pathogenic
9	95485817	GC	G	C95485819T	PTCH1	NM_000264.5(PTCH1):c.451del:p.Ala151fs	coding	Pathogenic
9	95485830	TCTTCTGGC	T	C95485831G	PTCH1	NM_000264.5(PTCH1):c.431_438del:p.Arg144fs	coding	Pathogenic
9	95485862	AC	A	C95485863T	PTCH1	NM_000264.5(PTCH1):c.406del:p.Arg135_Val136insTer	coding	Pathogenic
9	95506389	CGCGGCGGGCGCT	C	G95506390C	PTCH1	NM_000264.5(PTCH1):c.394+6_394+17del	noncoding	Benign
9	95506437	CGAGGTTCGCT	C	A95506439C	PTCH1	NM_000264.5(PTCH1):c.354_363del:p.Ala119fs	coding	Pathogenic
9	95506449	C	CT	A95506454T	PTCH1	NM_000264.5(PTCH1):c.351dup:p.Ala118fs	coding	Pathogenic
9	95506449	CT	C	T95506453A	PTCH1	NM_000264.5(PTCH1):c.351del:p.Ala118fs	coding	Pathogenic
9	95506475	AAT	A	A95506478G	PTCH1	NM_000264.5(PTCH1):c.324_325del:p.Phe109fs	coding	Pathogenic
9	95506522	G	GTAACAAC	C95506530T	PTCH1	NM_000264.5(PTCH1):c.272_278dup:p.Tyr93Ter	coding	Pathogenic
9	95506535	TTAAA	T	A95506539G	PTCH1	NM_000264.5(PTCH1):c.262_265del:p.Phe88fs	coding	Pathogenic
9	95506540	T	TA	G95506543A	PTCH1	NM_000264.5(PTCH1):c.260dup:p.Leu87fs	coding	Pathogenic
9	95507905	T	TACAC	G95507920A	PTCH1	NM_000264.5(PTCH1):c.201+242GT[9]	noncoding	Benign
9	95507905	T	TAC	G95507920A	PTCH1	NM_000264.5(PTCH1):c.201+242GT[8]	noncoding	Benign
9	95508034	TGTGA	T	A95508042T	PTCH1	NM_000264.5(PTCH1):c.201+123_201+126del	coding	Benign
9	95508038	AGTGAGTGT	A	A95508042T	PTCH1	NM_000264.5(PTCH1):c.201+115_201+122del	coding	Benign
9	95508040	TGA	T	A95508042T	PTCH1	NM_000264.5(PTCH1):c.201+119_201+120del	coding	Benign
9	95508364	T	TGCCGCC	G95508388C	PTCH1	NM_000264.5(PTCH1):c.-24GGC[9]	coding	Benign/Likely_benign
9	95508365	G	GCGC	C95508367G	PTCH1	NM_000264.5(PTCH1):c.-5_-4insGCG	coding	Benign
9	95508368	G	GGCC	C95508369G	PTCH1	NM_000264.5(PTCH1):c.-8_-7insGGC	coding	Benign
9	95876026	TC	AA	T95876026A	ERCC6L2	NM_020207.7(ERCC6L2):c.-13_-12delinsAA	coding	Benign
9	95880972	A	AT	G95880976T	ERCC6L2	NM_020207.7(ERCC6L2):c.153dup:p.Ala52fs	coding	Pathogenic
9	95916325	TAGCC	T	G95916327C	ERCC6L2	NM_020207.7(ERCC6L2):c.1051_1054del:p.Ala351fs	coding	Pathogenic/Likely_pathogenic
9	95922337	G	GT	A95922339T	ERCC6L2	NM_020207.7(ERCC6L2):c.1333dup:p.Tyr445fs	coding	Pathogenic
9	96004593	T	TTTCAC	C96004602A	ERCC6L2	NM_020207.7(ERCC6L2):c.3570_3574dup:p.Pro1192fs	coding	Pathogenic
9	96235628	ATCTTTGTGG	A	G96235634A	HSD17B3	NM_000197.2(HSD17B3):c.823-67_823-59del	noncoding	Benign
9	96240817	ACT	A	C96240820T	HSD17B3	NM_000197.2(HSD17B3):c.761_762del:p.Glu254fs	coding	Pathogenic
9	96244663	C	CA	C96244674A	HSD17B3	NM_000197.2(HSD17B3):c.607-279dup	noncoding	Benign
9	96252542	CA	C	A96252558G	HSD17B3	NM_000197.2(HSD17B3):c.385+260del	noncoding	Benign
9	97472397	CTTG	C	G97472403C	TDRD7	NM_014290.3(TDRD7):c.1849GTT[1]:p.Val618del	coding	Pathogenic
9	97675528	C	CA	T97675530A	XPA	NM_000380.4(XPA):c.732dup:p.Glu245Ter	coding	Pathogenic/Likely_pathogenic
9	97675543	T	TC	G97675545C	XPA	NM_000380.4(XPA):c.717dup:p.Ile240fs	coding	Pathogenic
9	97675571	T	TA	C97675573A	XPA	NM_000380.4(XPA):c.689dup:p.Arg231fs	coding	Pathogenic
9	97675590	G	GA	T97675600A	XPA	NM_000380.4(XPA):c.674-12dup	noncoding	Benign/Likely_benign
9	97684946	TTC	T	C97684948G	XPA	NM_000380.4(XPA):c.648_649del:p.Lys217fs	coding	Pathogenic
9	97684950	G	GTTTC	A97684955T	XPA	NM_000380.4(XPA):c.642_645dup:p.Gln216fs	coding	Pathogenic/Likely_pathogenic
9	97687104	T	TTA	A97687107T	XPA	NM_000380.4(XPA):c.545_546dup:p.Lys183Ter	coding	Pathogenic/Likely_pathogenic
9	97687109	TAG	T	A97687112T	XPA	NM_000380.4(XPA):c.540_541del:p.Tyr181fs	coding	Pathogenic
9	97687190	TCA	T	C97687193G	XPA	NM_000380.4(XPA):c.459_460del:p.Cys153_Asp154delinsTer	coding	Pathogenic/Likely_pathogenic
9	97687221	CCT	C	C97687224G	XPA	NM_000380.4(XPA):c.428_429del:p.Glu143fs	coding	Pathogenic/Likely_pathogenic
9	97689583	CCA	C	C97689584T	XPA	NM_000380.4(XPA):c.338_339del:p.Met113fs	coding	Pathogenic/Likely_pathogenic
9	97689644	GA	G	A97689648G	XPA	NM_000380.4(XPA):c.284-6del	noncoding	Benign
9	97689784	T	TAA	T97689796A	XPA	NM_000380.4(XPA):c.284-156_284-155dup	noncoding	Benign
9	97693650	TG	T	G97693652T	XPA	NM_000380.4(XPA):c.281del:p.Pro94fs	coding	Pathogenic
9	97697175	GGCGCA	G	G97697178A	XPA	NM_000380.4(XPA):c.113_117del:p.Leu38fs	coding	Pathogenic
9	97697272	AG	A	G97697273C	XPA	NM_000380.4(XPA):c.20del:p.Ala7fs	coding	Pathogenic
9	97854418	A	AGCC	A97854452G	FOXE1	NM_004473.4(FOXE1):c.505GCC[12]:p.Ala179dup	coding	Benign
9	98056897	AG	A	G98056900C	NANS	NM_018946.4(NANS):c.92del:p.Gly31fs	coding	Pathogenic
9	98290280	T	TG	T98290281G	GABBR2	NM_005458.8(GABBR2):c.*303_*304insC	noncoding	Benign
9	98290281	T	TG	T98290282G	GABBR2	NM_005458.8(GABBR2):c.*302_*303insC	noncoding	Benign
9	98290284	T	TG	T98290285G	GABBR2	NM_005458.8(GABBR2):c.*299_*300insC	noncoding	Benign
9	98299217	CT	C	T98299218C	GABBR2	NM_005458.8(GABBR2):c.2542+6del	noncoding	Benign
9	98303440	T	TG	C98303445G	GABBR2	NM_005458.8(GABBR2):c.2230-18dup	noncoding	Benign
9	98305808	GA	G	A98305820G	GABBR2	NM_005458.8(GABBR2):c.2229+312del	noncoding	Benign
9	98305808	G	GA	G98305821A	GABBR2	NM_005458.8(GABBR2):c.2229+301dup	noncoding	Benign
9	98306012	TA	T	A98306023G	GABBR2	NM_005458.8(GABBR2):c.2229+108del	noncoding	Benign
9	98306012	T	TAA	G98306024A	GABBR2	NM_005458.8(GABBR2):c.2229+98_2229+99dup	noncoding	Benign
9	98362479	C	CTT	A98362482T	GABBR2	NM_005458.8(GABBR2):c.1893+234_1893+235dup	noncoding	Benign
9	98371864	CTGCTGAGA	C	G98371874A	GABBR2	NM_005458.8(GABBR2):c.1663-301_1663-294del	noncoding	Benign
9	98385505	A	AG	A98385506G	GABBR2	NM_005458.8(GABBR2):c.1662+134_1662+135insC	noncoding	Benign
9	98388619	CTG	C	T98388660C	GABBR2	NM_005458.8(GABBR2):c.1529+193CA[20]	noncoding	Benign
9	98388619	CTGTG	C	T98388658C	GABBR2	NM_005458.8(GABBR2):c.1529+193CA[19]	noncoding	Benign
9	98388619	CTGTGTG	C	T98388656C	GABBR2	NM_005458.8(GABBR2):c.1529+193CA[18]	noncoding	Benign
9	98388619	CTGTGTGTG	C	T98388654C	GABBR2	NM_005458.8(GABBR2):c.1529+193CA[17]	noncoding	Benign
9	98388619	CTGTGTGTGTG	C	T98388652C	GABBR2	NM_005458.8(GABBR2):c.1529+193CA[16]	noncoding	Benign
9	98405902	GA	G	A98405909T	GABBR2	NM_005458.8(GABBR2):c.1297+178del	noncoding	Benign
9	98406154	CA	C	A98406158C	GABBR2	NM_005458.8(GABBR2):c.1237-14del	noncoding	Benign
9	98541567	C	CA	C98541569A	GABBR2	NM_005458.8(GABBR2):c.630+305dup	noncoding	Benign
9	98542054	CA	C	A98542058G	GABBR2	NM_005458.8(GABBR2):c.460-12del	noncoding	Benign
9	98708895	CGCG	C	G98708910A	GABBR2	NM_005458.8(GABBR2):c.-173CGC[4]	noncoding	Benign
9	98751114	GA	G	A98751123C	ANKS6	NM_173551.5(ANKS6):c.2327-19del	noncoding	Benign/Likely_benign
9	98751114	G	GA	C98751124A	ANKS6	NM_173551.5(ANKS6):c.2327-19dup	noncoding	Benign
9	98751344	CAG	C	A98751349T	ANKS6	NM_173551.5(ANKS6):c.2327-254CT[2]	noncoding	Benign
9	98774022	G	GGGAT	A98774028G	ANKS6	NM_173551.5(ANKS6):c.1672_1675dup:p.Pro559fs	coding	Pathogenic
9	98783803	CT	C	T98783818C	ANKS6	NM_173551.5(ANKS6):c.1112+149del	noncoding	Benign
9	98784438	CAGA	C	A98784441G	ANKS6	NM_173551.5(ANKS6):c.908-284_908-282del	noncoding	Benign
9	98796334	TCGGCCCCCGCCGGCTCCGCGCCCGCCTC	T	C98796339T	ANKS6	NM_173551.5(ANKS6):c.130_157del:p.Glu44fs	coding	Pathogenic
9	98836929	AT	A	T98836930C	GALNT12	NM_024642.5(GALNT12):c.1036-42del	noncoding	Benign
9	98840262	A	AC	A98840269C	GALNT12	NM_024642.5(GALNT12):c.1344+135dup	noncoding	Benign
9	99105165	C	CGGCCG	A99105185G	TGFBR1	NM_004612.4(TGFBR1):c.-36GGGCC[4]	noncoding	Benign
9	99105274	GGCGGC	G	C99105276G	TGFBR1	NM_004612.4(TGFBR1):c.71_75del:p.Ala24fs	coding	Pathogenic
9	99128858	T	TA	C99128860A	TGFBR1	NM_004612.4(TGFBR1):c.102dup:p.Gln35fs	coding	Pathogenic
9	99129115	ATT	A	T99129121C	TGFBR1	NM_004612.4(TGFBR1):c.343+21_343+22del	noncoding	Benign
9	99132680	C	CA	G99132682A	TGFBR1	NM_004612.4(TGFBR1):c.516dup:p.Glu173fs	coding	Pathogenic
9	99132929	CTTAACT	C	T99132936G	TGFBR1	NM_004612.4(TGFBR1):c.574+197_574+202del	noncoding	Benign
9	99147869	ACTTTT	A	T99147874A	TGFBR1	NM_004612.4(TGFBR1):c.1386+90_1386+94del	noncoding	Benign
9	99149184	T	TGA	T99149190A	TGFBR1	NM_004612.4(TGFBR1):c.1395_1396dup:p.Val466fs	coding	Pathogenic
9	99150990	CTA	C	A99150992C	TGFBR1	NM_004612.4(TGFBR1):c.*1687_*1688del	noncoding	Benign
9	99221669	GCAGCCAGTCCC	G	A99221671G	ALG2	NM_033087.4(ALG2):c.215_225del:p.Gly72fs	coding	Pathogenic
9	100104601	AG	A	G100104604T	INVS	NM_014425.5(INVS):c.83del:p.Gly28fs	coding	Pathogenic
9	100225750	CA	C	A100225758T	INVS	NM_014425.5(INVS):c.274-304del	noncoding	Benign
9	100225754	A	AG	A100225755G	INVS	NM_014425.5(INVS):c.274-308_274-307insG	noncoding	Benign
9	100225908	T	TATCTC	G100225910T	INVS	NM_014425.5(INVS):c.274-153_274-152insTCTCA	noncoding	Benign
9	100229707	G	GAAGCTGCTCATCAAGC	T100229725A	INVS	NM_014425.5(INVS):c.497_512dup:p.His171fs	coding	Pathogenic
9	100264618	CA	C	A100264634T	INVS	NM_014425.5(INVS):c.1465-188del	noncoding	Benign
9	100273051	CA	C	A100273052G	INVS	NM_014425.5(INVS):c.1760del:p.Gln587fs	coding	Pathogenic
9	100284343	GAA	G	A100284346G	INVS	NM_014425.5(INVS):c.1811_1812del:p.Lys604fs	coding	Pathogenic
9	100292304	ATTT	A	T100292308C	INVS	NM_014425.5(INVS):c.2069-18_2069-16del	noncoding	Benign
9	100292628	C	CA	G100292630A	INVS	NM_014425.5(INVS):c.2372dup:p.Lys792fs	coding	Pathogenic
9	100292756	CAA	C	A100292758G	INVS	NM_014425.5(INVS):c.2501_2502del:p.Lys834fs	coding	Pathogenic
9	100292984	GA	G	A100292986G	INVS	NM_014425.5(INVS):c.2729del:p.Lys910fs	coding	Pathogenic
9	100296929	GA	G	A100296931G	INVS	NM_014425.5(INVS):c.2801del:p.Lys934fs	coding	Pathogenic
9	101421898	AGTTAGCC	CA	A101421898C	ALDOB	NM_000035.4(ALDOB):c.1000-1_1006delinsTG	coding	Pathogenic
9	101424892	T	TTGCCACCCCAGGCAGCCAGTGCACGGGCCCTG	T101424917G	ALDOB	NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA:p.Lys317fs	coding	Pathogenic
9	101424999	AGT	A	T101425001G	ALDOB	NM_000035.4(ALDOB):c.841_842del:p.Thr281fs	coding	Pathogenic
9	101425490	T	TA	C101425492A	ALDOB	NM_000035.4(ALDOB):c.761dup:p.Thr255fs	coding	Pathogenic
9	101426492	ACAGCTGTTACCTAAAACTAAGATTTTTCAACTAGAATTGGGGCCTTCATATTTAAAACTTACCTTCTCAGTAACATACTGGCAGTGTTCCAGGTCATGGTCTCCATCAGGAATTACCTCTGGTTCAACAATAGGTACCAGTCCATTCTAAAAAGGAAAATCAAGGAAGCAAAAGTGAAGCTGTGCTCACTGTTATCCTTTCCTTAGGAGGAGATTCAACAGTTGCAATTGGTATAAATTGAAGCCATTATGGAGAAATACTACATAGATGACTTAAAGACAGTAGAATTTTTCAGAATGAGATAAAAAATAAATACAAACCCGTAATTACTGTATTTCTTTCTAGAGATTATTCTAGCTGCCTCAGAACCTAGCTACTGCCTTTTTAGGGCATCTAAGCATAAATCATTAAGAAAGATGTCTCTAAGTTGGGTTAATGAAGAAATTCAAGCAGTGTTTAGAGTTCTAATTGGGGATCTCCAGCTGTCCACAACTCTAGTAACCCCAACATAGTACTCACAGAAGAAAATCAAACTTAACTCGGACCCAGAGACATTTTAGTATGTGTTGGAAACTTTAGCATCTGGTCACCATCCTCCAAAGAATTATTTGGATTGGAACTCGGTCAGAGCTGTCACTCTTCAGCTAGGAATCTAAGAGGATCATGTCTTGGATGTTACGGAGTATAGACAACCAAGTTCCCTGCCCTCAAAAGCCCGATCACTTATAAGACAGCTTATGGAGCTTTGACAGAGGGCAGCAGTTGATGGCATTATCCTTTGAACTCATAGCTTAGTTGGACTCCTACTGGCTTGTGGGACCAAATCTTTCCCTACCACAGTTGGCTATAGCAAAAGTTGTGAAAAATGCCACTAGGATATACTGGTGAGGGAAAAGGAGGTCCATTTGTAGTTATAGTATAATTGAAAAGAAAAGCTCTGAAGAAAACTCTAGCCTACTCTTTTTCAGCCCAAGGGGAAGGCAGAGCACCTGCTGACAGATGCTGGCGTAGCGAGCCAGGGCGTTGGCGTTTTCCTGGATAGCGAGGCTGGATGGACACTGGTCGGCAATCCTCAGCACAGCACGCCACTTCCCAAAGTCAACACCATCTTTCTTGTACTGAGCACAGCGCTCTGAGAGGCCATCAAGCCCTGCAAGTCACAAAAGAGAGAAAGGCTTCTTTGTACCTTTGTACCTGATCCATGGGGCTTCTAATAAAGGGAAGGAGTTCTCCCTTTGCTTAGCTTTCAATCCACTGTGCTTGAGGATTGAAAACAGCCAAGCATATCAGCATTAATCACAACACTGAACCAGAAGACTTAGATTTAATAAATAGTGTTTTGACATACATACTATCTACTCCATATATAGAATAGAAGAAACCAATAGTTAATATGATACTCATTTTACAAAGGTGGAAACTGAAGCTCCTAATGGTTAAGCAACTTTACCAAGTTTGAATTGCTCAAGAGTGACAGAGCTGGGATTCAAATTCTGCTTAGCTAACCCAATGTTGTGAGTTAATGCTTGTCTACTTGGGCAGAAGTACCTTGCAAAATTATCTAGGTAGCATGTGATAGAACCAGGATTCAAACCCAGGTGTGTCTGACCTCAAAGTGTGGGGACTTTCCACTCTACTGCTGCTAATTTTTTTCTAAAAATAATACTTCCGGGTGCAGAGTTTAATCTTCTTTGTCCAAGGTACTGTGGTAAGCACCTTATGTACATTGTCTAAGTTAATCCCCACAACATTTTGAGAAATCCCCATTTTGAGATAGGAGAACTGAGGCTCACAATATTTCAGTGACTGGCCCAAGGTCACAGTTGTTAAATGGAGGAGCTGGTATTGAAAACCAGGTACGTGTGGCTCTAAGACCAGTGTAATAGTTGTGTTTTGTTTTTCCTTGCTTCCTTCTTTACTTGCCTTCATTTCTAGCTTACACTGGCATGATTCATCTCAGTGGGCAATATCCTTACCTTGAATGGTGGTTTCTTTGTTTGTTCCTGCAAGAGGAGCACCTCCTTGGTCTAACTGTGGATACAAATAATTAACAGGTGTCAGATGTCAGGAAAACACAAGCAGAACTCTTGAACTAACTAACAGTTTGCATCTTTTACAGATCAAGGAGTTGAATTAGTAAAGTGTATTAGTGCGAGGGACCCAGTTCAGTCCATAGCAGAAGGGAAGTTACCTAGAAGGTACACTGTGAGAGTGTCTACCCTAACATTTATTGAGCACCTGCATGCACCAGGTGTTGTGTTAGTACAGGAGGTAAAGAGAATTAAGGATACAACCTCTACTCTCTACATAGCAAAGGCAAAAGTCATGAGCTTGAGAATTAGCCTAAACTGGCTCTGACCTTGCCTTGTTGTGTGGGCAAGTTATGTTACTCTTCGTAGTTCAGTTTTCTCACTTCATCTCTAAATAAGGGTAATAATTGAGTCTACTACCAGAGGTTATGAGAATTAAATGAATGCTTGGAATGGTAAAAACTCTTATTCAATGGATACTAGTTTTCACTTTTGAGAAGTTTATGCACTATTGGAAGACCTAGTTATAAGATAGAATAGTAAATGCTTCAATAATTATGATAGTTACCATTAACAATAATTACGCAATATAAACTTTTTCTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTAGACAGGATCTTACTCTTTTTTTTTTTGAGACAGGGTCATCCAGGCTGGAGTGCAGTGGTATGACCATAGCTCACTCCAGCTTCGACCTCCAGGGCTCAGGTGATCAATCTTTCCACGTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCAACACATCTGGCTAATGTTTTTGATTTTTAGTAGAGACAAGGTCCCACTGTGTTGCTCAGTCTGGTCTCAAACTCCTGAGCTCAAGCGATCCTCTTGCCTCTGCCTTCCAAAGTGCTGGGATTACAGCAGTAAGCAACCACGTCCAGCCTAGAAACTTTTAGTCATTTCATCCCTGTAAGAACATCATGAGGTAGATTCCCATTTTAAGAAATGAGATTGAGATGCAAAGAGATTAAGAACGTGTAGAAAATTTGAGTGAAAGAAGAGGGCACTGGAGGAAAACTCTAGAAGAGGATCTTGTTCTCTGTGGGAAGATGACGATGGAAAAGGGTGAGAAGAGAAATTTGATGAGGAGAATGTTCAGAGTGTTGGCCCTGTCCTTGCCAGTGTGCTTGGAGTTTGCCTAGGACAAAGCAGAAGTGAGGTGTGAATGGAGGTGTTCACCTTGATTCCCACCACGATCCCCTTTTCCTTGAGGATGTTTCTGAACAGCTTTCCCTGGCTGTCCTTCTGGTAGAGGGTCTCGTGGAAAAGGATCACACCCCCGATGCTCTGGTTGATGGAACTGTCCACAGAGAAGAGGATTTCTCGGAACTGCCGGCGGTTCTCTTCAGTGTTTTCCACCTTGATCCTCTGCAGGCGGTTCCCCATGGTACCTATGGTGGGAGGGCCAAGGGCAGCATAAGGAGCAAGCCAGGGCTTTCCTGTCACCCTTCTCCACATCATCTCAGAGACCCTCACCACAGTGGAAAGCAAGACTTTCTTTTTTCAGATAGTCAAAGCTCCTGCTTCAATTTTTTGTGTTCCAGGGAGAAGACCCTGGTTGCTCTCAGGTGGCTAGTTAGGGAGTATGTGGGCTGGGCATATAGAGGTCAGGGTGGAAGCCACCCTCAGGTCCAGGTGGATATGGAAGGCCCTCAGGCCTCTCTAGCCTCCCTGATCTGGTCCTCAGTCTTGCTGGATGTACATGCAGAAGGAGGGATGGGGCATGCTCTTGATTCTCAGGGTTCTGTGATTTTATGGCAGGCTGTGCAACTCTGCCACAGCTCTCCCTTGTGCCATCCTGAGGTTCTCCCATCCATAAGCCCTGTCCTATTCCAGATGCAGATACTTTCCTGCCCTTCTTGACTCAACTGAATTTAAACTGACTTTAAACTGACTTCTCACTAGTAGCAGATGCCTGTGTATCTGACCTTATGCTAGTTACTAAGTTTCTGGCCTTACTACAAGGCTGGATTCAAATGACCCCTGGCTTAAAATGAAGGGCTTGAGCCTCTTTCCTTGGCTTTCAGGAATGTGCCTACTACTTACAGGACTCAAAAGCTCTACGCTTACTGAGTCTTCTGCTCCCACTCCCGTGTACATAAACCTTTACTTCCATAAAGAATATGATTATCAAGTTGTTTTTGCTAAGTGTAGAAAAAATAATATGTTGTTATATGATGAGACTGCTTTTTACACTCACCTACAGATTCATCTGCAGCCAGGATCCCCTTTCCATTGGCAACAATGCTCTGGGCAATTTCTGAGAGCTCCTTCTTCTGCTCCTGGGTGAGGGCTGGAAATCGGTGGGCCATGGTGACAGGTCTGGAAAAGAGTGTGCGAGAGTTGTGCACAGAACCATGGGTGGCTCAGATGGATGCATGACCAAGACAGTTGGGGGTGCAGACATGCTGTGCAGACCTCTGTGACACCTCTGACCCATTTCCACAGGTGGATAAGCAAATGAGGTTTGTTTTTCCCCCATCACTTATTAGTTGCAATTAGCTGCAATGAATGAAGGTGGGTTACTGAATGTTCATGGTGATCCTAGACAGAATGCTTTCCAGCAGGCCTTTGGAATCACTAATCAAAACACTGAACCAGCTAATTAGTGACCCACTAAAATATGACTAATAGAGGGGACTGCAGTAATGGACTGTCTCTCTATTCTGTGGACTCCTGGTGCCACTGGATTTCCTTAATGGCTTGAGGCCAGGACAATGTCGCTCTTGACCTCTGCAGTTATCCTCTGCTTTGCTCTGTTAGTCTGTAGTTCCAACAGATTATTCTCCAGGAAACAAACTTGAAAGGAGAAATCTATACATAGTCTTAAAGCTAACTTCCATTTGGCCTCGGGCTACAGAGGGTTGGGTGCAAGTTTCCTTTTCCTTATATTCAACCCTCTATGAAACCACTTGGGGCAGACCAGAGAGGATGTTTCCTAAGTGCCTCTGGGCTTGGGTTTCTCACTGCCTATGAGGATGCTAAAGTTGTATGGCAGTCCCTGCTCCAGCTTCACTGCTTTAGCAAGGGGAGACTCTGGCTTGAAGACCCCCTAACCAAGCAGCCTCCACAGTGGTTGTGCTCTGAAGGAGATCGTTGCCCCTGTTCGGATGCCACTTTGGGTTAATCTTGAAAATGCAAGCTCAAAGAGCCCTCACTTTGGGTGTTACAAAGAGTGCTTTTTGCATAGGTTGGGCTACCAAAGAAAAAATGGTAATGAAGATTATCTTGGGTAGCTTCCTATCCAATGCCAGGGTCTCCTCCTTTCTCTAATCTTCTCTCCCTCCAATACACTCAGCACAGGGTGGATGCTCCATGTCTACATATTACTTCCCGGAAGCCCAGGGACACCTCAGGTCTCATCTGATCCATTGGCAATGAGGTAATTATAGCAGGTATTATCTTCATTAATTAATGAGCAAGCTAAGACGTAGAGAAGCTAACTGACTTGTTCAAGGTCCCAGCTAGGATGAAGCAGAGTCCCTATCCAGTCCTGTCCTCATGACAAATATATTTCTCCACATTTTCTGCATCCCTTCAGGGTAGGCTGTCAGTACTCTGTCCCTTGATATAAAAAGTCAGTAGCCACTGAGCTAATTCATGAGAAGGTATAACTGATGATCTCATTGTTGCCTCTCCATTTCAACAGAGGTTCTTGTCTTACCCCAAAAGAATGAAACTGCAATGCTGTTACTGGGGTAATAGGACAAGCTAGTGGGCAACAATTTCTAGAGAAGATGACCTTCTAAGGCCCATTATGTCCCAGCCACCAGCAGAGCATGTTTGCCCTGTTTATATATTAGCTGTAATATTGGAGTCAAAGACTTTTAGCTTTGGACCTGGCCTCCAGATCATCATGCTGAAAAAAGCCAACCTGGGTGTGATCTTCAGAGCAAGGTGCAAACTTTCTCTCTCAGTTTAGGCATTTGTACAAAGGAGTTGACAATTACCAAGAAAGAAAGATATTTTCTTAATGAAACAAAAGGGAAAATCAGCCCAATAATAATAATAACAACAAGTGATCATGTATTGTCAAGCACTCTGCTAATGGCTTTACATGCACTATATAATTTTTCTTGAAAATAATCCCAGAAGGTGGTTGGGCTCTTTTCCCCTCCCATTTAATAGATTAGGAAAGAATATAAGAGAGTGTAAATTATTTATCCAAGGACAAATAGCTAATAAGGCATCAAGTTGAGATAAGGGGCAGTACTCCTTTCCATTCAAGGGAAAGAGTGAGCTTGATGAAAAAAATGGCCTTTGGATGACTCCTAATGTCCTTGATGACACCCCAGAGTACCTTACGCTGTGGGTGATTACACCATGGACATTACTTATTCATAAACATCTGACACATTTATGTAG	A	C101426493A	ALDOB	NM_000035.4(ALDOB):c.-10-2043_624+62del	noncoding	Pathogenic
9	101427594	AC	A	C101427595A	ALDOB	NM_000035.4(ALDOB):c.427del:p.Val143fs	coding	Pathogenic
9	101428487	TG	T	G101428488T	ALDOB	NM_000035.4(ALDOB):c.360del:p.Asn120fs	coding	Pathogenic
9	101429828	AG	A	G101429831T	ALDOB	NM_000035.4(ALDOB):c.250del:p.Leu84fs	coding	Pathogenic/Likely_pathogenic
9	101429851	A	AC	G101429857C	ALDOB	NM_000035.4(ALDOB):c.227dup:p.Val77fs	coding	Pathogenic
9	101429923	A	AGTGTTTT	C101429931G	ALDOB	NM_000035.4(ALDOB):c.149_155dup:p.Glu53fs	coding	Pathogenic
9	104781415	TAAC	T	C104781418G	ABCA1	NM_005502.4(ABCA1):c.*2897_*2899del	noncoding	Benign
9	104782848	T	TA	G104782866A	ABCA1	NM_005502.4(ABCA1):c.*1466dup	noncoding	Benign
9	104783993	C	CA	G104784010A	ABCA1	NM_005502.4(ABCA1):c.*321dup	noncoding	Benign
9	104784298	CG	C	G104784299T	ABCA1	NM_005502.4(ABCA1):c.*16del	noncoding	Benign/Likely_benign
9	104785610	CG	C	G104785611T	ABCA1	NM_005502.4(ABCA1):c.6430del:p.Arg2144fs	coding	Pathogenic
9	104788364	CA	C	A104788365T	ABCA1	NM_005502.4(ABCA1):c.6069+61del	noncoding	Benign
9	104792909	TG	T	G104792914A	ABCA1	NM_005502.4(ABCA1):c.5637-4del	noncoding	Benign/Likely_benign
9	104794512	T	TA	T104794531A	ABCA1	NM_005502.4(ABCA1):c.5383-20dup	noncoding	Benign
9	104802289	CAG	C	G104802293A	ABCA1	NM_005502.4(ABCA1):c.4593-132_4593-131del	noncoding	Benign
9	104806109	A	AAAAAAAC	G104806130C	ABCA1	NM_005502.4(ABCA1):c.4464+118GTTTTTT[3]	noncoding	Benign
9	104806356	TGG	T	G104806357A	ABCA1	NM_005502.4(ABCA1):c.4347_4348del:p.Phe1449fs	coding	Pathogenic
9	104819727	C	CA	C104819735A	ABCA1	NM_005502.4(ABCA1):c.3104-5dup	noncoding	Benign
9	104824239	CAAAG	C	G104824243A	ABCA1	NM_005502.4(ABCA1):c.2656+222_2656+225del	noncoding	Benign
9	104830689	CA	C	A104830700T	ABCA1	NM_005502.4(ABCA1):c.1892+235del	noncoding	Benign
9	104831149	TAA	T	A104831169T	ABCA1	NM_005502.4(ABCA1):c.1716-50_1716-49del	noncoding	Benign
9	104831149	TA	T	A104831170T	ABCA1	NM_005502.4(ABCA1):c.1716-49del	noncoding	Benign
9	104831149	T	TAAA	T104831171A	ABCA1	NM_005502.4(ABCA1):c.1716-69_1716-67dup	noncoding	Benign
9	104831149	T	TAA	T104831171A	ABCA1	NM_005502.4(ABCA1):c.1716-69_1716-68dup	noncoding	Benign
9	104831149	T	TA	T104831171A	ABCA1	NM_005502.4(ABCA1):c.1716-69dup	noncoding	Benign
9	104831221	C	CT	G104831235T	ABCA1	NM_005502.4(ABCA1):c.1716-133dup	noncoding	Benign
9	104832489	CT	C	T104832491G	ABCA1	NM_005502.4(ABCA1):c.1509+84del	noncoding	Benign
9	104837131	AAGG	A	G104837137A	ABCA1	NM_005502.4(ABCA1):c.1195-38_1195-36del	noncoding	Benign
9	104837157	G	GC	T104837158C	ABCA1	NM_005502.4(ABCA1):c.1195-62_1195-61insG	noncoding	Benign
9	104840357	CA	C	A104840358T	ABCA1	NM_005502.4(ABCA1):c.975del:p.Trp324_Tyr325insTer	coding	Pathogenic
9	104861842	CA	C	A104861857G	ABCA1	NM_005502.4(ABCA1):c.422-43del	noncoding	Benign
9	104862049	T	TACAC	T104862077C	ABCA1	NM_005502.4(ABCA1):c.422-275GT[15]	noncoding	Benign
9	104862049	T	TAC	T104862077C	ABCA1	NM_005502.4(ABCA1):c.422-275GT[14]	noncoding	Benign
9	104889157	GATAA	G	A104889161G	ABCA1	NM_005502.4(ABCA1):c.101_104del:p.Phe34fs	coding	Pathogenic
9	105356298	GT	G	T105356299G	SLC44A1	NM_080546.5(SLC44A1):c.588del:p.Ser196fs	coding	Pathogenic
9	105573627	C	CA	T105573641A	FKTN	NM_001079802.2(FKTN):c.-180-15dup	noncoding	Benign
9	105601153	T	TA	T105601160A	FKTN	NM_001079802.2(FKTN):c.180dup:p.Phe61fs	coding	Pathogenic
9	105604238	GA	G	A105604240T	FKTN	NM_001079802.2(FKTN):c.395del:p.Asn132fs	coding	Pathogenic
9	105604257	C	CTAAAGATTGAGAG	C105604278T	FKTN	NM_001079802.2(FKTN):c.420_432dup:p.Pro145Ter	coding	Pathogenic
9	105604271	TA	T	A105604274G	FKTN	NM_001079802.2(FKTN):c.429del:p.Asp144fs	coding	Pathogenic/Likely_pathogenic
9	105604370	C	CT	C105604374T	FKTN	NM_001079802.2(FKTN):c.528dup:p.His177fs	coding	Pathogenic/Likely_pathogenic
9	105604412	GA	TT	G105604412T	FKTN	NM_001079802.2(FKTN):c.567_568delinsTT:p.Leu189_Arg190delinsPheTer	coding	Pathogenic
9	105604428	A	AT	G105604431T	FKTN	NM_001079802.2(FKTN):c.585dup:p.Asp196Ter	coding	Pathogenic
9	105606680	AAT	A	A105606693T	FKTN	NM_001079802.2(FKTN):c.648-1138AT[6]	noncoding	Benign
9	105606694	TTATATA	T	A105606700G	FKTN	NM_001079802.2(FKTN):c.648-1124TA[2]	noncoding	Benign
9	105615025	AG	A	G105615027C	FKTN	NM_001079802.2(FKTN):c.781-251del	noncoding	Benign
9	105617673	TCAAA	T	C105617678G	FKTN	NM_001079802.2(FKTN):c.911-281_911-278del	noncoding	Benign
9	105618068	TC	T	C105618070G	FKTN	NM_001079802.2(FKTN):c.1022del:p.Pro341fs	coding	Pathogenic
9	105620049	GA	G	A105620056T	FKTN	NM_001079802.2(FKTN):c.1167del:p.Lys389fs	coding	Pathogenic
9	105635191	G	GCT	C105635197T	FKTN	NM_001079802.2(FKTN):c.1317_1318dup:p.Pro440fs	coding	Pathogenic
9	105639642	GA	G	A105639652T	FKTN	NM_001079802.2(FKTN):c.*4388del	coding	Benign/Likely_benign
9	105639657	ATCAAG	A	A105639661T	FKTN	NM_001079802.2(FKTN):c.*4397_*4401del	coding	Benign
9	105640631	CTTCTAACCCAACCTAATACAGAGATTTTGTAGGGACCCATTAACAAGCTCCTATATAATTATAAGCAGCTCTCACAGTAGGGTTGAAAGAGAATATAAGGAAAATTAGAAGTACTGTATTTTTGCTATTGGAAATGAAATATTGTTTCATGCACCTTTGAAAAAAATAACAGGATTTTACAGCCTTCTGATGATTCATTCAAAGCATGGGGAATAGTTCATATGTTTGTTAAATGAAAATCTTATGTAGCTATTTGTGTGTCCCTCCCACTTCATAACTACAAAAACATATATATGAATTTCTAAACAAAGTGATATTTTAAAGATGAATTGATTCAATGTGTACTTACCAGTTTACTGTGTGGTTTTATCTTCAGGTACAGATAGTTTGTGGTACTACTTGAAAATACCTTTAATATTATTTTCATCAGAATTTGTAATATATAATCCAGTTTGGGATGATGAATAAAATTT	C	C105640638T	FKTN	NM_001079802.2(FKTN):c.*5374_*5846del	noncoding	Pathogenic
9	105748397	CAGG	C	G105748399C	TMEM38B	NM_018112.3(TMEM38B):c.660+209_660+211del	noncoding	Benign
9	105748485	T	TA	C105748487A	TMEM38B	NM_018112.3(TMEM38B):c.660+296dup	noncoding	Benign
9	105774145	AT	A	T105774150C	TMEM38B	NM_018112.3(TMEM38B):c.*70del	noncoding	Benign
9	106925778	ACATT	A	A106925784T	ZNF462	NM_021224.6(ZNF462):c.1872_1875del:p.Phe625fs	coding	Pathogenic
9	106925940	TA	T	A106925941G	ZNF462	NM_021224.6(ZNF462):c.2029del:p.Arg677fs	coding	Pathogenic
9	106926770	TC	T	C106926771A	ZNF462	NM_021224.6(ZNF462):c.2859del:p.Asn954fs	coding	Pathogenic
9	106927020	G	GT	G106927024T	ZNF462	NM_021224.6(ZNF462):c.3111dup:p.Ala1038fs	coding	Pathogenic
9	106928653	CTG	C	G106928657C	ZNF462	NM_021224.6(ZNF462):c.4745_4746del:p.Cys1582fs	coding	Pathogenic
9	106928733	C	CT	C106928738T	ZNF462	NM_021224.6(ZNF462):c.4825dup:p.Ser1609fs	coding	Pathogenic
9	106929440	GGCTCCCATTCCGCT	G	T106929443A	ZNF462	NM_021224.6(ZNF462):c.5531_5544del:p.Leu1844fs	coding	Pathogenic
9	108862468	CAG	C	A108862471C	ACTL7A	NM_006687.4(ACTL7A):c.149_150del:p.Glu50fs	coding	Pathogenic
9	108874955	AATTGG	A	A108874956G	ELP1	NM_003640.5(ELP1):c.3866_3870del:p.Pro1289fs	coding	Pathogenic
9	108878084	G	GT	A108878086T	ELP1	NM_003640.5(ELP1):c.3765dup:p.Gln1256fs	coding	Pathogenic
9	108878135	T	TA	T108878137A	ELP1	NM_003640.5(ELP1):c.3714dup:p.Ile1239fs	coding	Pathogenic
9	108879542	T	TG	T108879547G	ELP1	NM_003640.5(ELP1):c.3475dup:p.His1159fs	coding	Pathogenic
9	108879631	GAACT	G	A108879637G	ELP1	NM_003640.5(ELP1):c.3461-78_3461-75del	noncoding	Benign
9	108880103	GT	G	T108880106C	ELP1	NM_003640.5(ELP1):c.3408del:p.Lys1136fs	coding	Pathogenic
9	108880126	GCTGT	G	T108880130A	ELP1	NM_003640.5(ELP1):c.3382_3385del:p.Thr1128fs	coding	Pathogenic
9	108880133	G	GA	G108880135A	ELP1	NM_003640.5(ELP1):c.3378dup:p.Gln1127fs	coding	Pathogenic
9	108891302	C	CT	G108891304T	ELP1	NM_003640.5(ELP1):c.3060dup:p.Ala1021fs	coding	Pathogenic
9	108894068	T	TA	T108894076A	ELP1	NM_003640.5(ELP1):c.2737-9dup	noncoding	Benign
9	108898539	AATCT	A	A108898544G	ELP1	NM_003640.5(ELP1):c.2322_2325del:p.Asp775fs	coding	Pathogenic
9	108899667	T	TA	G108899682A	ELP1	NM_003640.5(ELP1):c.2204+141dup	noncoding	Benign
9	108900301	TC	T	C108900303G	ELP1	NM_003640.5(ELP1):c.2088del:p.Ile697fs	coding	Pathogenic
9	108903615	GGT	G	G108903616C	ELP1	NM_003640.5(ELP1):c.1696_1697del:p.Thr566fs	coding	Pathogenic
9	108903681	AAGG	A	G108903684A	ELP1	NM_003640.5(ELP1):c.1644-15_1644-13del	noncoding	Benign/Likely_benign
9	108903824	TACACACAC	T	A108903845T	ELP1	NM_003640.5(ELP1):c.1644-183GT[10]	noncoding	Benign
9	108903824	TACACAC	T	A108903847T	ELP1	NM_003640.5(ELP1):c.1644-183GT[11]	noncoding	Benign
9	108903824	TACAC	T	A108903849T	ELP1	NM_003640.5(ELP1):c.1644-183GT[12]	noncoding	Benign
9	108903824	TAC	T	A108903851T	ELP1	NM_003640.5(ELP1):c.1644-183GT[13]	noncoding	Benign
9	108903824	T	TAC	T108903853A	ELP1	NM_003640.5(ELP1):c.1644-183GT[15]	noncoding	Benign
9	108906327	TCATC	T	C108906332T	ELP1	NM_003640.5(ELP1):c.1615_1618del:p.Asp539fs	coding	Pathogenic
9	108908331	TC	T	C108908332T	ELP1	NM_003640.5(ELP1):c.1433del:p.Arg478fs	coding	Pathogenic
9	108910830	T	TA	C108910845A	ELP1	NM_003640.5(ELP1):c.1360+166dup	noncoding	Benign
9	108911036	CT	C	T108911037G	ELP1	NM_003640.5(ELP1):c.1333del:p.Ser445fs	coding	Pathogenic
9	108911100	C	CA	G108911102A	ELP1	NM_003640.5(ELP1):c.1269dup:p.Val424fs	coding	Pathogenic
9	108912470	T	TA	G108912472A	ELP1	NM_003640.5(ELP1):c.982dup:p.Tyr328fs	coding	Pathogenic
9	108916242	TCTTCCAGCCAG	T	C108916243A	ELP1	NM_003640.5(ELP1):c.909_919del:p.Trp304fs	coding	Pathogenic
9	108917467	CAA	C	A108917484T	ELP1	NM_003640.5(ELP1):c.864+78_864+79del	noncoding	Benign
9	108917467	CA	C	A108917485T	ELP1	NM_003640.5(ELP1):c.864+79del	noncoding	Benign
9	108917467	C	CA	T108917486A	ELP1	NM_003640.5(ELP1):c.864+62dup	noncoding	Benign
9	108918646	G	GA	G108918659A	ELP1	NM_003640.5(ELP1):c.740+153dup	noncoding	Benign
9	108918839	C	CCACAG	G108918845C	ELP1	NM_003640.5(ELP1):c.707_711dup:p.Ala238fs	coding	Pathogenic
9	108922798	C	CAT	T108922801A	ELP1	NM_003640.5(ELP1):c.552+42_552+43dup	noncoding	Benign
9	108929816	C	CCA	G108929827C	ELP1	NM_003640.5(ELP1):c.254_255dup:p.Ala86fs	coding	Pathogenic
9	109141433	T	TAAATCTGCAGGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCNNNNNNNNNNAAAAAAAAAA	C109141448G	FRRS1L	NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTNNNNNNNNNNGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT:p.Lys207delinsPhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer	coding	Pathogenic
9	109141475	CATCTCTGGCAGGG	C	A109141476T	FRRS1L	NM_014334.4(FRRS1L):c.564_576del:p.Asn188fs	coding	Pathogenic
9	109141485	AG	A	G109141488T	FRRS1L	NM_014334.4(FRRS1L):c.566del:p.Pro189fs	coding	Pathogenic
9	109141610	G	GA	G109141621A	FRRS1L	NM_014334.4(FRRS1L):c.463-31dup	noncoding	Benign
9	109141899	T	TA	T109141907A	FRRS1L	NM_014334.4(FRRS1L):c.463-317dup	noncoding	Benign
9	109167069	CGG	C	G109167071C	FRRS1L	NM_014334.4(FRRS1L):c.68_69del:p.Pro23fs	coding	Pathogenic
9	109167076	CG	C	G109167077T	FRRS1L	NM_014334.4(FRRS1L):c.62del:p.Thr21fs	coding	Pathogenic
9	109167262	A	AC	G109167268C	FRRS1L	NC_000009.11:g.111929542_111929543insC	coding	Pathogenic
9	110682390	A	ACACT	A110682393C	MUSK	NM_005592.4(MUSK):c.80-282_80-281insCTCA	noncoding	Benign
9	110695594	ACACT	A	C110695597G	MUSK	NM_005592.4(MUSK):c.486+67_486+70del	noncoding	Benign
9	110697413	C	CA	C110697420A	MUSK	NM_005592.4(MUSK):c.581dup:p.Asn194fs	coding	Pathogenic
9	110697419	AC	A	C110697420A	MUSK	NM_005592.4(MUSK):c.582del:p.Asn194fs	coding	Pathogenic
9	110728720	A	AT	C110728730T	MUSK	NM_005592.4(MUSK):c.629-5522dup	noncoding	Benign
9	110776067	AT	A	T110776079G	MUSK	NM_005592.4(MUSK):c.1360+116del	noncoding	Benign
9	110785831	CAT	C	A110785846C	MUSK	NM_005592.4(MUSK):c.1778+114AT[7]	noncoding	Benign
9	110787361	CAA	C	A110787381G	MUSK	NM_005592.4(MUSK):c.1779-309_1779-308del	noncoding	Benign
9	110787361	C	CAA	G110787383A	MUSK	NM_005592.4(MUSK):c.1779-309_1779-308dup	noncoding	Benign
9	110787361	C	CA	G110787383A	MUSK	NM_005592.4(MUSK):c.1779-308dup	noncoding	Benign
9	110788104	TA	T	A110788110T	MUSK	NM_005592.4(MUSK):c.1927+272del	noncoding	Benign
9	111727810	CA	C	A111727812G	SHOC1	NM_001378211.1(SHOC1):c.1656del:p.Asp553fs	coding	Pathogenic
9	111738310	AT	A	T111738311A	SHOC1	NM_001378211.1(SHOC1):c.1386del:p.Leu464fs	coding	Pathogenic
9	111738418	ACT	A	C111738421G	SHOC1	NM_001378211.1(SHOC1):c.1277_1278del:p.Glu426fs	coding	Pathogenic
9	111746323	TA	T	A111746324G	SHOC1	NM_001378211.1(SHOC1):c.989del:p.Leu330fs	coding	Pathogenic
9	111775808	AGT	A	T111775810C	SHOC1	NM_001378211.1(SHOC1):c.423_424del:p.Leu142fs	coding	Pathogenic
9	113284277	AT	A	T113284285C	PRPF4	NM_001244926.2(PRPF4):c.655-10del	noncoding	Benign
9	113390037	C	CT	G113390049T	ALAD	NM_000031.6(ALAD):c.571-220dup	noncoding	Benign
9	113393389	T	TCCCCAA	A113393410C	ALAD	NM_000031.6(ALAD):c.113+40TTGGGG[4]	noncoding	Benign
9	113393947	CT	C	T113393960C	ALAD	NM_000031.6(ALAD):c.-75-314del	noncoding	Benign
9	114168249	CTGAGGAAGCAG	C	A114168252T	COL27A1	NM_032888.4(COL27A1):c.697_707del:p.Arg233fs	coding	Pathogenic
9	114168477	C	CCTCA	C114168483T	COL27A1	NM_032888.4(COL27A1):c.924_927dup:p.Gln310fs	coding	Pathogenic
9	114168927	GC	G	C114168928T	COL27A1	NM_032888.4(COL27A1):c.1373del:p.Ala458fs	coding	Pathogenic
9	114169280	T	TAGCCCCAGAC	C114169299A	COL27A1	NM_032888.4(COL27A1):c.1734_1743dup:p.Pro582fs	coding	Pathogenic
9	114169444	A	AGGGAGACTGTGGCTTGCCG	T114169465G	COL27A1	NM_032888.4(COL27A1):c.1891_1908+1dup	coding	Pathogenic
9	114194448	TG	T	G114194452C	COL27A1	NM_032888.4(COL27A1):c.2065del:p.Ala689fs	coding	Pathogenic
9	114231838	TG	T	G114231843A	COL27A1	NM_032888.4(COL27A1):c.2542del:p.Glu848fs	coding	Pathogenic
9	114235609	G	GT	G114235610T	COL27A1	NM_032888.4(COL27A1):c.2576_2577insT:p.Val860fs	coding	Pathogenic
9	114252641	T	TC	G114252643C	COL27A1	NM_032888.4(COL27A1):c.3083dup:p.Met1029fs	coding	Pathogenic
9	114264405	GA	G	A114264407G	COL27A1	NM_032888.4(COL27A1):c.3248del:p.Lys1083fs	coding	Pathogenic
9	114265441	G	GC	A114265448C	COL27A1	NM_032888.4(COL27A1):c.3365dup:p.Gly1123fs	coding	Pathogenic
9	114269257	T	TAGGG	G114269258A	COL27A1	NM_032888.4(COL27A1):c.3518_3519insAGGG:p.Thr1175fs	coding	Pathogenic
9	114275666	CA	C	A114275667G	COL27A1	NM_032888.4(COL27A1):c.3616del:p.Arg1206fs	coding	Pathogenic
9	114275728	AGGACGGGCCCCCC	A	A114275731C	COL27A1	NM_032888.4(COL27A1):c.3680_3692del:p.Asp1227fs	coding	Pathogenic
9	114288487	GC	G	C114288492T	COL27A1	NM_032888.4(COL27A1):c.4025del:p.Pro1342fs	coding	Pathogenic
9	114290215	AC	A	C114290221A	COL27A1	NM_032888.4(COL27A1):c.4261-3del	noncoding	Benign
9	114301286	TC	T	C114301288G	COL27A1	NM_032888.4(COL27A1):c.4760del:p.Pro1587fs	coding	Pathogenic
9	114309231	AGCCGCTCACT	A	C114309236T	COL27A1	NM_032888.4(COL27A1):c.5218-24_5218-15del	noncoding	Benign
9	114406631	C	CGG	A114406634G	WHRN	NM_015404.4(WHRN):c.1958_1959dup:p.Val654fs	coding	Pathogenic
9	114423026	CT	C	T114423037A	WHRN	NM_015404.4(WHRN):c.1626+287del	noncoding	Benign
9	114423365	CGT	C	G114423368C	WHRN	NM_015404.4(WHRN):c.1573_1574del:p.Thr525fs	coding	Pathogenic
9	114424397	AC	GT	A114424397G	WHRN	NM_015404.4(WHRN):c.1352_1353inv:p.Gly451Asp	coding	Benign
9	114424437	TC	T	C114424439T	WHRN	NM_015404.4(WHRN):c.1312del:p.Glu438fs	coding	Pathogenic
9	114466281	C	CTTCTGCTTCAGAGCCTGGGT	C114466302T	WHRN	NM_015404.4(WHRN):c.929_948dup:p.Gly317fs	coding	Pathogenic
9	114504057	TA	T	A114504072G	WHRN	NM_015404.4(WHRN):c.618+126del	noncoding	Benign
9	114504300	CG	C	G114504301T	WHRN	NM_015404.4(WHRN):c.501del:p.Ile166_Tyr167insTer	coding	Pathogenic
9	114504592	GT	G	T114504594G	WHRN	NM_015404.4(WHRN):c.209del:p.Asn70fs	coding	Pathogenic
9	114504635	TCCCGCTCCGC	T	C114504637T	WHRN	NM_015404.4(WHRN):c.157_166del:p.Ala53fs	coding	Pathogenic
9	114504727	G	GC	G114504731C	WHRN	NM_015404.4(WHRN):c.74dup:p.Gly26fs	coding	Pathogenic
9	114505401	AGCCTCCGC	A	C114505407T	WHRN	NM_015404.4(WHRN):c.-608_-601del	noncoding	Benign/Likely_benign
9	115021272	TA	T	A115021284G	TNC	NM_002160.4(TNC):c.6496-6del	noncoding	Benign
9	115029981	AT	A	T115029984A	TNC	NM_002160.4(TNC):c.6072+272del	noncoding	Benign
9	115035080	A	AT	C115035091T	TNC	NM_002160.4(TNC):c.5787+114dup	noncoding	Benign
9	115040906	A	AAC	A115040926C	TNC	NM_002160.4(TNC):c.5392+17GT[10]	noncoding	Benign
9	115040906	A	AACAC	A115040926C	TNC	NM_002160.4(TNC):c.5392+17GT[11]	noncoding	Benign
9	115041300	CA	C	A115041301G	TNC	NM_002160.4(TNC):c.5249-217del	noncoding	Benign
9	115041300	CAG	C	A115041301G	TNC	NM_002160.4(TNC):c.5249-218_5249-217del	noncoding	Benign
9	115041300	CAGGA	C	A115041301G	TNC	NM_002160.4(TNC):c.5249-220_5249-217del	noncoding	Benign
9	115041303	GA	G	A115041304G	TNC	NM_002160.4(TNC):c.5249-220del	noncoding	Benign
9	115041307	G	GC	G115041308C	TNC	NM_002160.4(TNC):c.5249-224_5249-223insG	noncoding	Benign
9	115041308	GC	G	C115041309G	TNC	NM_002160.4(TNC):c.5249-225del	noncoding	Benign
9	115057469	GTTAA	G	A115057473T	TNC	NM_002160.4(TNC):c.4307-48_4307-45del	noncoding	Benign
9	115087527	G	GGTGTGT	A115087566G	TNC	NM_002160.4(TNC):c.458-292AC[22]	noncoding	Benign
9	115087527	GGTGT	G	G115087562A	TNC	NM_002160.4(TNC):c.458-292AC[17]	noncoding	Benign
9	115087527	GGTGTGT	G	G115087560A	TNC	NM_002160.4(TNC):c.458-292AC[16]	noncoding	Benign
9	115087527	GGTGTGTGTGTGTGTGTGTGTGTGT	G	G115087542A	TNC	NM_002160.4(TNC):c.458-292AC[7]	noncoding	Benign
9	116698217	C	CTT	A116698220T	TRIM32	NM_012210.4(TRIM32):c.476_477dup:p.Met160fs	coding	Pathogenic
9	116698278	C	CAAGGTAA	T116698285A	TRIM32	NM_012210.4(TRIM32):c.542_543insAAAGGTA:p.Tyr181Ter	coding	Pathogenic
9	116698344	GCT	G	T116698348G	TRIM32	NM_012210.4(TRIM32):c.606_607del:p.Arg203fs	coding	Pathogenic
9	116698926	T	TA	C116698928A	TRIM32	NM_012210.4(TRIM32):c.1185dup:p.Gln396fs	coding	Pathogenic
9	116699258	AAATACAGCTGCCT	A	A116699260T	TRIM32	NM_012210.4(TRIM32):c.1518_1530del:p.Lys506fs	coding	Pathogenic
9	116699343	GC	G	C116699345T	TRIM32	NM_012210.4(TRIM32):c.1603del:p.Leu535fs	coding	Pathogenic
9	120439574	CGT	C	G120439577T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3545_3546del:p.His1182fs	coding	Pathogenic
9	120440045	TAGCCA	T	C120440053A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3149-78_3149-74del	noncoding	Benign
9	120518165	C	CTGTG	A120518212T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1311+216CA[25]	noncoding	Benign
9	120518165	C	CTGTGTG	A120518212T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1311+216CA[26]	noncoding	Benign
9	120518165	CTGTGTGTGTGTG	C	T120518200A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1311+216CA[17]	noncoding	Benign
9	120518208	TGTGAGAGAGA	T	T120518210A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1311+209_1311+218del	noncoding	Benign
9	120518213	G	GAC	G120518215C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1311+213_1311+214insTG	noncoding	Benign
9	120527519	G	GAT	A120527531T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.999+277AT[6]	noncoding	Benign
9	120536468	T	TTC	C120536473T	CDK5RAP2	NM_018249.6(CDK5RAP2):c.564_565dup:p.Lys189fs	coding	Pathogenic
9	120545637	GA	G	A120545641G	CDK5RAP2	NM_018249.6(CDK5RAP2):c.383+76del	noncoding	Benign
9	120972009	GAAAC	G	A120972014C	C5	NM_001735.3(C5):c.4018-21_4018-18del	noncoding	Benign
9	120981888	TA	T	A120981891G	C5	NM_001735.3(C5):c.3441del:p.Phe1147fs	coding	Pathogenic
9	120989554	C	CT	A120989566T	C5	NM_001735.3(C5):c.3154+13dup	noncoding	Benign
9	120989554	CT	C	T120989565A	C5	NM_001735.3(C5):c.3154+13del	noncoding	Benign
9	120989595	GC	TT	G120989595T	C5	NM_001735.3(C5):c.3126_3127delinsAA:p.Gln1043Lys	coding	Benign
9	121021627	ATTGT	A	T121021632G	C5	NM_001735.3(C5):c.1180_1183del:p.Thr394fs	coding	Pathogenic
9	121025419	T	TACACACACACAC	T121025450A	C5	NM_001735.3(C5):c.1000+5GT[21]	noncoding	Benign
9	121034831	GA	G	A121034835G	C5	NM_001735.3(C5):c.555del:p.Pro186fs	coding	Pathogenic
9	121046380	A	AT	A121046382T	C5	NM_001735.3(C5):c.68dup:p.Tyr23Ter	coding	Pathogenic
9	121299868	CCGCACCGCCCCGCGCCCGCGCTGCTTTG	C	A121299872G	GSN	NM_198252.3(GSN):c.-9-2091_-9-2064del	coding	Benign/Likely_benign
9	121324751	G	GTCCA	G121324797C	GSN	NM_198252.3(GSN):c.1416+108TCCA[12]	noncoding	Benign
9	121324751	GTCCA	G	C121324793G	GSN	NM_198252.3(GSN):c.1416+108TCCA[10]	noncoding	Benign
9	121324751	GTCCATCCA	G	C121324789G	GSN	NM_198252.3(GSN):c.1416+108TCCA[9]	noncoding	Benign
9	121327230	GC	G	C121327231G	GSN	NM_198252.3(GSN):c.1588-77del	noncoding	Benign
9	121327496	TG	T	G121327502C	GSN	NM_198252.3(GSN):c.1762+20del	noncoding	Benign
9	121331466	TG	T	G121331471C	GSN	NM_198252.3(GSN):c.2026+23del	noncoding	Benign
9	123356238	AGCAGAGC	A	C123356247G	CRB2	NM_173689.7(CRB2):c.-21CAGAGCG[1]	noncoding	Benign
9	123366944	CAA	C	A123366961T	CRB2	NM_173689.7(CRB2):c.755-211_755-210del	noncoding	Benign
9	123366944	CA	C	A123366962T	CRB2	NM_173689.7(CRB2):c.755-210del	noncoding	Benign
9	123366944	C	CAA	T123366963A	CRB2	NM_173689.7(CRB2):c.755-211_755-210dup	noncoding	Benign
9	123366944	C	CA	T123366963A	CRB2	NM_173689.7(CRB2):c.755-210dup	noncoding	Benign
9	123367161	T	TGTGC	C123367166G	CRB2	NM_173689.7(CRB2):c.755-10_755-7dup	noncoding	Benign
9	123367429	ACC	A	C123367436A	CRB2	NM_173689.7(CRB2):c.940+79_940+80del	noncoding	Benign
9	123367444	CCACCCCA	C	C123367457G	CRB2	NM_173689.7(CRB2):c.940+100_940+106del	noncoding	Benign
9	123367472	CCT	C	C123367479T	CRB2	NM_173689.7(CRB2):c.941-100CT[3]	noncoding	Benign
9	123371476	CT	C	T123371478C	CRB2	NM_173689.7(CRB2):c.2336del:p.Phe779fs	coding	Pathogenic
9	123371594	C	CGGT	G123371609T	CRB2	NM_173689.7(CRB2):c.2436+17GGT[5]	noncoding	Benign
9	123372184	CCT	C	C123372185G	CRB2	NM_173689.7(CRB2):c.2445_2446del:p.Cys816fs	coding	Pathogenic
9	123373320	C	CG	C123373327G	CRB2	NM_173689.7(CRB2):c.2795dup:p.Val933fs	coding	Pathogenic
9	123373936	A	AG	T123373943G	CRB2	NM_173689.7(CRB2):c.3389+22dup	noncoding	Benign
9	123374409	G	GA	C123374410A	CRB2	NM_173689.7(CRB2):c.3390-170_3390-169insA	noncoding	Benign
9	123374673	C	CT	G123374675T	CRB2	NM_173689.7(CRB2):c.3485dup:p.Glu1163fs	coding	Pathogenic
9	124482584	AC	A	C124482586T	NR5A1	NM_004959.5(NR5A1):c.*173del	noncoding	Benign
9	124491153	GCACCAGCT	G	A124491155C	NR5A1	NM_004959.5(NR5A1):c.1058_1065del:p.Glu353fs	coding	Pathogenic
9	124493035	GC	G	C124493038G	NR5A1	NM_004959.5(NR5A1):c.984del:p.Gln329fs	coding	Pathogenic
9	124500319	G	GGGTA	C124500325G	NR5A1	NM_004959.5(NR5A1):c.637_640dup:p.Pro214fs	coding	Pathogenic
9	124500387	AC	A	C124500388G	NR5A1	NM_004959.5(NR5A1):c.572del:p.Arg191fs	coding	Pathogenic
9	124500400	GC	G	C124500401A	NR5A1	NM_004959.5(NR5A1):c.559del:p.Ala187fs	coding	Pathogenic
9	124503078	CCTTCCAGGCGCAT	C	T124503080C	NR5A1	NM_004959.5(NR5A1):c.232_244del:p.Met78fs	noncoding	Pathogenic
9	124503091	TC	T	C124503095A	NR5A1	NM_004959.5(NR5A1):c.231del:p.Met78fs	coding	Pathogenic
9	126615337	GGGCCGGGCGGCGCTGAC	G	G126615346T	LMX1B	NM_001174147.2(LMX1B):c.140-37_140-21del	noncoding	Pathogenic
9	126615449	T	TG	C126615451G	LMX1B	NM_001174147.2(LMX1B):c.207dup:p.Arg70fs	coding	Pathogenic
9	126615459	CG	C	G126615460A	LMX1B	NM_001174147.2(LMX1B):c.217del:p.Glu73fs	coding	Pathogenic
9	126615531	CCGG	C	C126615532G	LMX1B	NM_001174147.2(LMX1B):c.289_291del:p.Arg97del	coding	Pathogenic
9	126615538	CG	C	G126615540A	LMX1B	NM_001174147.2(LMX1B):c.297del:p.Lys100fs	coding	Pathogenic
9	126615544	CTG	C	G126615546A	LMX1B	NM_001174147.2(LMX1B):c.303_304del:p.Tyr102fs	coding	Pathogenic
9	126690839	CT	C	T126690841C	LMX1B	NM_001174147.2(LMX1B):c.332del:p.Phe111fs	coding	Pathogenic
9	126690855	A	AT	G126690856T	LMX1B	NM_001174147.2(LMX1B):c.346_347insT:p.Ser116fs	coding	Pathogenic
9	126690859	G	GCTGCA	T126690865C	LMX1B	NM_001174147.2(LMX1B):c.351_355dup:p.Met119fs	coding	Pathogenic
9	126690905	G	GGA	T126690909A	LMX1B	NM_001174147.2(LMX1B):c.398_399dup:p.Cys134fs	coding	Pathogenic
9	126690914	GTACCACCTGGGCTGC	G	A126690916T	LMX1B	NM_001174147.2(LMX1B):c.407_421del:p.Tyr136_Cys140del	coding	Pathogenic
9	126691087	TG	T	G126691092C	LMX1B	NM_001174147.2(LMX1B):c.559+24del	noncoding	Benign
9	126693202	AG	A	G126693205C	LMX1B	NM_001174147.2(LMX1B):c.623del:p.Gly208fs	coding	Pathogenic
9	126693336	C	CG	C126693343G	LMX1B	NM_001174147.2(LMX1B):c.741+19dup	noncoding	Benign
9	126693527	CGA	C	G126693532C	LMX1B	NM_001174147.2(LMX1B):c.750_751del:p.Glu250fs	coding	Pathogenic
9	126693547	G	GA	C126693549A	LMX1B	NM_001174147.2(LMX1B):c.766dup:p.Thr256fs	coding	Pathogenic
9	127467811	C	CT	G127467814T	LRSAM1	NM_001005373.4(LRSAM1):c.602dup:p.Leu201fs	coding	Pathogenic
9	127474260	CT	C	T127474276C	LRSAM1	NM_001005373.4(LRSAM1):c.750+345del	noncoding	Benign
9	127478968	G	GA	T127478973A	LRSAM1	NM_001005373.4(LRSAM1):c.780+9dup	noncoding	Benign
9	127479095	G	GCA	G127479098C	LRSAM1	NM_001005373.4(LRSAM1):c.780+133_780+134dup	noncoding	Benign
9	127479429	TG	T	G127479433C	LRSAM1	NM_001005373.4(LRSAM1):c.831del:p.Gln278fs	coding	Pathogenic
9	127482992	TGA	T	A127482996C	LRSAM1	NM_001005373.4(LRSAM1):c.1135_1136del:p.Ser379fs	coding	Pathogenic
9	127501048	G	GCC	A127501055C	LRSAM1	NM_001005373.4(LRSAM1):c.1956_1957dup:p.Gln653fs	coding	Pathogenic
9	127612428	G	CT	G127612428C	STXBP1	NM_001032221.6(STXBP1):c.25delinsCT:p.Val9fs	coding	Pathogenic
9	127660014	TC	T	C127660021A	STXBP1	NM_001032221.6(STXBP1):c.247-9del	noncoding	Benign/Likely_benign
9	127660027	CAGTCCGTCCACTCTCTCATCAGTGACTTTA	C	T127660030G	STXBP1	NC_000009.11:g.130422307_130422336del	noncoding	Pathogenic
9	127660101	CACTG	C	A127660106T	STXBP1	NM_001032221.6(STXBP1):c.323_325+1del	coding	Pathogenic
9	127660992	C	CA	T127661008A	STXBP1	NM_001032221.6(STXBP1):c.326-95dup	noncoding	Benign
9	127663294	AG	A	G127663295A	STXBP1	NM_001032221.6(STXBP1):c.520del:p.Glu174fs	coding	Pathogenic
9	127666164	AG	A	G127666167C	STXBP1	NM_003165.6(STXBP1):c.664-1delG	noncoding	Pathogenic
9	127666315	AC	A	C127666319A	STXBP1	NM_001032221.6(STXBP1):c.794+23del	noncoding	Benign
9	127668182	GT	G	T127668183C	STXBP1	NM_001032221.6(STXBP1):c.898del:p.Ser300fs	coding	Pathogenic
9	127669896	AG	A	G127669899A	STXBP1	NC_000009.11:g.130432176del	noncoding	Pathogenic
9	127669914	CTG	C	T127669915A	STXBP1	NM_001032221.6(STXBP1):c.920_921del:p.Leu307fs	coding	Pathogenic
9	127672057	AT	A	T127672058G	STXBP1	NM_001032221.6(STXBP1):c.971del:p.Met324fs	coding	Pathogenic
9	127672066	C	CT	G127672068T	STXBP1	NM_001032221.6(STXBP1):c.980dup:p.Ser328fs	coding	Pathogenic
9	127673240	C	CA	C127673244A	STXBP1	NM_001032221.6(STXBP1):c.1092dup:p.Leu365fs	coding	Pathogenic
9	127675917	CCTT	C	T127675920C	STXBP1	NM_001032221.6(STXBP1):c.1227_1229del:p.Leu410del	coding	Pathogenic
9	127676697	GA	G	A127676698G	STXBP1	NM_001032221.6(STXBP1):c.1304del:p.Glu435fs	coding	Pathogenic
9	127678430	G	GC	T127678431C	STXBP1	NM_001032221.6(STXBP1):c.1359_1360insC:p.Ser454fs	noncoding	Pathogenic
9	127678461	CG	C	G127678463A	STXBP1	NM_001032221.6(STXBP1):c.1392del:p.Lys465fs	coding	Pathogenic
9	127682381	TTC	T	C127682385T	STXBP1	NM_001032221.6(STXBP1):c.1548-21_1548-20del	noncoding	Benign
9	127682499	G	GC	A127682500C	STXBP1	NM_001032221.6(STXBP1):c.1641_1642insC:p.Asn548fs	coding	Pathogenic
9	127682530	C	AACGGAAAGTGGGAGGTGGGAGG	C127682530A	STXBP1	NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG:p.Gln558fs	coding	Pathogenic
9	127817214	AAGAG	A	A127817219C	ENG	NM_001114753.3(ENG):c.1687-19CT[2]	noncoding	Benign/Likely_benign
9	127818104	CCCAGGCCCCACTCACCTGGT	C	C127818106T	ENG	NM_001114753.3(ENG):c.1682_1686+15del	noncoding	Pathogenic
9	127818130	G	GA	C127818132A	ENG	NM_001114753.3(ENG):c.1675dup:p.Ser559fs	coding	Pathogenic
9	127818148	AG	A	G127818151C	ENG	NM_001114753.3(ENG):c.1657del:p.Leu553fs	coding	Pathogenic/Likely_pathogenic
9	127818160	C	CAGCTGAG	G127818168A	ENG	NM_001114753.3(ENG):c.1639_1645dup:p.Cys549fs	coding	Pathogenic
9	127818190	ACT	A	C127818191G	ENG	NM_001114753.3(ENG):c.1614_1615del:p.Val539fs	coding	Pathogenic
9	127818191	CTG	C	G127818195A	ENG	NM_001114753.3(ENG):c.1613_1614del:p.Thr538fs	coding	Pathogenic
9	127818233	CG	C	G127818237C	ENG	NM_001114753.3(ENG):c.1572del:p.Glu525fs	coding	Pathogenic
9	127818251	GGC	G	G127818252T	ENG	NM_001114753.3(ENG):c.1553_1554del:p.Ser518fs	coding	Pathogenic
9	127818274	GC	G	C127818277G	ENG	NM_001114753.3(ENG):c.1531del:p.Ala511fs	coding	Pathogenic
9	127818296	C	CGTGG	G127818298T	ENG	NM_001114753.3(ENG):c.1509_1510insCCAC:p.Val504fs	coding	Pathogenic
9	127818308	CAGGCCCCAAG	AAGGCCCAAT	C127818308A	ENG	NM_001114753.3(ENG):c.1488_1498delinsATTGGGCCTT:p.Asp496fs	coding	Pathogenic
9	127818311	GC	G	C127818315A	ENG	NM_001114753.3(ENG):c.1494del:p.Pro499fs	coding	Pathogenic
9	127818339	CTG	C	T127818340G	ENG	NM_001114753.3(ENG):c.1465_1466del:p.Gln489fs	coding	Pathogenic
9	127818356	AGACGGATGGG	A	G127818360A	ENG	NM_001114753.3(ENG):c.1440_1449del:p.Val483fs	coding	Pathogenic
9	127818793	GGAAA	G	A127818796G	ENG	NM_001114753.3(ENG):c.1347_1350del:p.Phe450fs	coding	Pathogenic
9	127819507	CA	C	A127819508C	ENG	NM_001114753.3(ENG):c.1311+114del	noncoding	Pathogenic
9	127819635	G	GA	G127819637A	ENG	NM_001114753.3(ENG):c.1297dup:p.Ser433fs	coding	Pathogenic
9	127819962	C	CA	C127819966A	ENG	NM_001114753.3(ENG):c.1209dup:p.Val404fs	coding	Pathogenic
9	127819963	A	AAACT	T127819968A	ENG	NM_001114753.3(ENG):c.1205_1208dup:p.Phe403fs	coding	Pathogenic
9	127819990	A	AC	A127819992C	ENG	NM_001114753.3(ENG):c.1181dup:p.Cys394fs	coding	Pathogenic
9	127819995	TG	T	G127819999T	ENG	NM_001114753.3(ENG):c.1176del:p.Ser393fs	coding	Pathogenic
9	127820029	C	CTTCA	A127820034T	ENG	NM_001114753.3(ENG):c.1139_1142dup:p.Lys381fs	coding	Pathogenic
9	127820032	CA	C	A127820035T	ENG	NM_001114753.3(ENG):c.1139del:p.His379_Leu380insTer	coding	Pathogenic
9	127820032	C	CA	T127820036A	ENG	NM_001114753.3(ENG):c.1139dup:p.Leu380fs	coding	Pathogenic
9	127824312	GCTCT	G	C127824313T	ENG	NM_001114753.3(ENG):c.1122_1125del:p.Lys374fs	coding	Pathogenic
9	127824315	C	CT	C127824319T	ENG	NM_001114753.3(ENG):c.1122dup:p.Glu375fs	coding	Pathogenic
9	127824316	TT	GC	T127824316G	ENG	NM_001114753.3(ENG):c.1121_1122delinsGC:p.Lys374Ser	coding	Pathogenic/Likely_pathogenic
9	127824333	TC	T	C127824334A	ENG	NM_001114753.3(ENG):c.1104del:p.Met368fs	coding	Pathogenic
9	127824349	A	AC	A127824351C	ENG	NM_001114753.3(ENG):c.1088dup:p.Cys363fs	coding	Pathogenic
9	127824357	T	TCTGGATCAAG	G127824368C	ENG	NM_001114753.3(ENG):c.1071_1080dup:p.Thr361fs	coding	Pathogenic
9	127824361	G	GA	T127824363A	ENG	NM_001114753.3(ENG):c.1076dup:p.Gln360fs	coding	Pathogenic
9	127824383	GGGCTACAAGTGTC	G	G127824384C	ENG	NM_001114753.3(ENG):c.1042_1054del:p.Asp348fs	coding	Pathogenic
9	127824395	TC	T	C127824397T	ENG	NM_001114753.3(ENG):c.1042del:p.Asp348fs	coding	Pathogenic
9	127824418	CGG	C	G127824419T	ENG	NM_001114753.3(ENG):c.1018_1019del:p.Pro340fs	coding	Pathogenic
9	127824432	T	TAC	C127824433A	ENG	NM_001114753.3(ENG):c.1005_1006insGT:p.Thr336fs	coding	Pathogenic
9	127824435	GC	AG	G127824435A	ENG	NM_001114753.3(ENG):c.1002_1003delinsCT:p.Gln335Ter	coding	Pathogenic
9	127824440	C	CTA	C127824443T	ENG	NM_001114753.3(ENG):c.996_997dup:p.Arg333fs	coding	Pathogenic
9	127824856	GC	G	C127824858A	ENG	NM_001114753.3(ENG):c.934del:p.Ala312fs	coding	Pathogenic
9	127824868	G	GC	A127824870C	ENG	NM_001114753.3(ENG):c.922dup:p.Ala308fs	coding	Pathogenic
9	127824870	ATT	A	T127824871G	ENG	NM_001114753.3(ENG):c.919_920del:p.Asn307fs	coding	Pathogenic
9	127824870	ATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTG	A	T127824872C	ENG	NM_001114753.3(ENG):c.882_920del:p.Thr295_Asn307del	coding	Pathogenic
9	127824872	TGA	T	A127824874C	ENG	NM_001114753.3(ENG):c.917_918del:p.Leu306fs	coding	Pathogenic
9	127824874	AG	A	G127824875C	ENG	NM_001114753.3(ENG):c.916del:p.Leu306fs	coding	Pathogenic
9	127824880	CG	C	G127824883C	ENG	NM_001114753.3(ENG):c.910del:p.Arg304fs	coding	Pathogenic
9	127824895	AG	A	G127824897C	ENG	NM_001114753.3(ENG):c.895del:p.Leu299fs	coding	Pathogenic/Likely_pathogenic
9	127824912	TG	T	G127824915A	ENG	NM_001114753.3(ENG):c.878del:p.Pro293fs	coding	Pathogenic
9	127824923	A	AGCCAC	A127824930C	ENG	NM_001114753.3(ENG):c.863_867dup:p.Phe290fs	coding	Pathogenic
9	127824939	CT	C	T127824940C	ENG	NM_001114753.3(ENG):c.851del:p.Glu284fs	coding	Pathogenic
9	127824949	AT	A	T127824950C	ENG	NM_001114753.3(ENG):c.841del:p.Ile281fs	coding	Pathogenic
9	127824954	GA	G	A127824956G	ENG	NM_001114753.3(ENG):c.836del:p.Phe279fs	coding	Pathogenic
9	127824962	AT	A	T127824964C	ENG	NM_001114753.3(ENG):c.828del:p.Glu276fs	coding	Pathogenic
9	127824968	CA	C	A127824969G	ENG	NM_001114753.3(ENG):c.822del:p.Gly275fs	coding	Pathogenic
9	127825260	TGAGCCAGGACACGTAGGGGG	T	G127825263C	ENG	NM_001114753.3(ENG):c.767_786del:p.Pro256fs	coding	Pathogenic
9	127825264	C	CCA	G127825267C	ENG	NM_001114753.3(ENG):c.781_782dup:p.Trp261fs	coding	Pathogenic
9	127825268	G	GA	C127825270A	ENG	NM_001114753.3(ENG):c.778dup:p.Ser260fs	coding	Pathogenic
9	127825275	AGG	A	G127825280A	ENG	NM_001114753.3(ENG):c.770_771del:p.Pro257fs	coding	Pathogenic
9	127825280	GG	T	G127825280T	ENG	NM_001114753.3(ENG):c.766_767delinsA:p.Pro256fs	coding	Pathogenic
9	127825306	GA	G	A127825307G	ENG	NM_001114753.3(ENG):c.740del:p.Leu247fs	coding	Pathogenic
9	127825341	C	CCGTCA	C127825348G	ENG	NM_001114753.3(ENG):c.701_705dup:p.Val236Ter	coding	Pathogenic
9	127825346	A	AC	G127825349C	ENG	NM_001114753.3(ENG):c.700dup:p.Val234fs	coding	Pathogenic
9	127825709	C	CG	C127825712G	ENG	NM_001114753.3(ENG):c.674dup:p.His227fs	coding	Pathogenic
9	127825725	ATG	A	T127825728C	ENG	NM_001114753.3(ENG):c.657_658del:p.Ile220fs	coding	Pathogenic
9	127825728	TGC	T	G127825731C	ENG	NM_001114753.3(ENG):c.654_655del:p.Ile220fs	coding	Pathogenic
9	127825729	GCGCCTCCTTGTGGCCGGCCA	G	C127825735T	ENG	NM_001114753.3(ENG):c.635_654del:p.Val212fs	coding	Pathogenic
9	127825736	CT	C	T127825738G	ENG	NM_001114753.3(ENG):c.647del:p.Lys216fs	coding	Pathogenic
9	127825764	CA	C	A127825765G	ENG	NM_001114753.3(ENG):c.619del:p.Cys207fs	coding	Pathogenic
9	127825767	C	CTGGAG	C127825768T	ENG	NM_001114753.3(ENG):c.616_617insCTCCA:p.Gly206fs	coding	Pathogenic
9	127825787	ACGCGGCCGCCACTCGAG	A	C127825790T	ENG	NM_001114753.3(ENG):c.580_596del:p.Leu194fs	coding	Pathogenic
9	127825788	C	CG	C127825790G	ENG	NM_001114753.3(ENG):c.595dup:p.Arg199fs	coding	Pathogenic
9	127825801	C	CCATG	G127825802C	ENG	NM_001114753.3(ENG):c.582_583insCATG:p.Glu195fs	coding	Pathogenic
9	127825801	CGA	C	A127825803C	ENG	NM_001114753.3(ENG):c.581_582del:p.Leu194fs	coding	Pathogenic
9	127825825	TG	T	G127825827C	ENG	NM_001114753.3(ENG):c.558del:p.Ser187fs	coding	Pathogenic
9	127826563	GTGATGGGGCCCCTCTCAGC	CAGCAGA	G127826563C	ENG	NM_001114753.3(ENG):c.451_470delinsTCTGCTG:p.Ala151fs	coding	Pathogenic
9	127826567	T	TG	C127826572G	ENG	NM_001114753.3(ENG):c.465dup:p.Ile156fs	coding	Pathogenic
9	127826574	C	CCT	A127826580T	ENG	NM_001114753.3(ENG):c.457_458dup:p.Pro155fs	coding	Pathogenic
9	127826574	CCT	C	T127826578A	ENG	NM_001114753.3(ENG):c.457_458del:p.Arg153fs	coding	Pathogenic
9	127826575	C	CT	C127826577T	ENG	NM_001114753.3(ENG):c.457dup:p.Arg153fs	coding	Pathogenic
9	127826587	C	CA	C127826589A	ENG	NM_001114753.3(ENG):c.445dup:p.Trp149fs	coding	Pathogenic
9	127826593	A	AGCTT	G127826595C	ENG	NM_001114753.3(ENG):c.439_440insAAGC:p.Leu147fs	coding	Pathogenic
9	127826627	T	TG	T127826630G	ENG	NM_001114753.3(ENG):c.405dup:p.Thr136fs	coding	Pathogenic
9	127826635	A	AC	G127826641C	ENG	NM_001114753.3(ENG):c.397dup:p.Val133fs	coding	Pathogenic
9	127826640	C	CGG	C127826646G	ENG	NM_001114753.3(ENG):c.391_392dup:p.Gly132fs	coding	Pathogenic
9	127826654	A	AGGTG	A127826659G	ENG	NM_001114753.3(ENG):c.375_378dup:p.Phe127fs	coding	Pathogenic
9	127826662	AGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCT	A	T127826666C	ENG	NM_001114753.3(ENG):c.361-36_370del	coding	Pathogenic
9	127826977	G	GTC	C127826984T	ENG	NM_001114753.3(ENG):c.361-311GA[4]	noncoding	Benign
9	127829684	C	CA	C127829686A	ENG	NM_001114753.3(ENG):c.360+2dup	noncoding	Pathogenic
9	127829732	GAC	G	A127829735T	ENG	NM_001114753.3(ENG):c.313_314del:p.Val105fs	coding	Pathogenic
9	127829783	AT	A	T127829787G	ENG	NM_001114753.3(ENG):c.263del:p.Asn88fs	coding	Pathogenic
9	127829788	GC	G	C127829789T	ENG	NM_001114753.3(ENG):c.258del:p.Lys86fs	coding	Pathogenic
9	127829807	CA	C	A127829808G	ENG	NM_001114753.3(ENG):c.239del:p.Leu80fs	coding	Pathogenic
9	127843133	GG	TT	G127843133T	ENG	NM_001114753.3(ENG):c.179_180delinsAA:p.Ala60Glu	coding	Benign/Likely_benign
9	127843179	GTA	G	A127843183G	ENG	NM_001114753.3(ENG):c.132_133del:p.Thr45fs	coding	Pathogenic
9	127854292	TG	T	G127854296C	ENG	NM_001114753.3(ENG):c.63del:p.Thr22fs	coding	Pathogenic
9	127874951	AC	A	C127874953G	AK1	NM_000476.3(AK1):c.-32-303del	noncoding	Benign
9	128170117	AAC	A	C128170119G	CIZ1	NM_001131016.2(CIZ1):c.1944-12_1944-11del	noncoding	Benign
9	128180394	CAG	C	A128180395G	CIZ1	NM_001131016.2(CIZ1):c.791+19_791+20del	noncoding	Benign
9	128180624	C	CCCTGCCTCCCACA	T128180646C	CIZ1	NM_001131016.2(CIZ1):c.682+84_682+96dup	noncoding	Benign
9	128222780	CT	C	T128222784C	DNM1	NM_004408.4(DNM1):c.1129-9del	noncoding	Benign
9	128239567	C	CGT	A128239618G	DNM1	NM_004408.4(DNM1):c.1493+53GT[26]	noncoding	Benign
9	128239567	CGT	C	G128239616A	DNM1	NM_004408.4(DNM1):c.1493+53GT[24]	noncoding	Benign
9	128239567	CGTGT	C	G128239614A	DNM1	NM_004408.4(DNM1):c.1493+53GT[23]	noncoding	Benign
9	128239567	CGTGTGT	C	G128239612A	DNM1	NM_004408.4(DNM1):c.1493+53GT[22]	noncoding	Benign
9	128239567	CGTGTGTGT	C	G128239610A	DNM1	NM_004408.4(DNM1):c.1493+53GT[21]	noncoding	Benign
9	128239567	CGTGTGTGTGTGT	C	G128239606A	DNM1	NM_004408.4(DNM1):c.1493+53GT[19]	noncoding	Benign
9	128247230	T	TGAGA	G128247236A	DNM1	NM_004408.4(DNM1):c.1782-144GA[4]	noncoding	Benign
9	128248771	TG	T	G128248776C	DNM1	NM_004408.4(DNM1):c.2076+23del	noncoding	Benign
9	128258516	GCCT	G	C128258536A	GOLGA2	NM_001366244.2(GOLGA2):c.2207AGG[6]:p.Glu742del	coding	Benign
9	128322875	GCC	G	C128322877T	COQ4	NM_016035.5(COQ4):c.19_20del:p.Pro7fs	coding	Pathogenic
9	128323064	A	ACCACCTCC	G128323083A	COQ4	NM_016035.5(COQ4):c.130_137dup:p.Leu47fs	coding	Pathogenic
9	128325862	T	TC	G128325865C	COQ4	NM_016035.5(COQ4):c.385dup:p.Arg129fs	coding	Pathogenic
9	128353100	GT	G	T128353102C	SLC27A4	NM_005094.4(SLC27A4):c.1065del:p.Arg356fs	coding	Pathogenic
9	128353537	G	GC	A128353540C	SLC27A4	NM_005094.4(SLC27A4):c.1322dup:p.Gly442fs	coding	Pathogenic
9	128354953	CA	C	A128354974G	SLC27A4	NM_005094.4(SLC27A4):c.1325-79del	noncoding	Benign
9	128504900	GC	G	C128504901G	GLE1	NM_001003722.2(GLE1):c.96del:p.Glu33fs	coding	Pathogenic
9	128508970	CTCTG	C	T128508975A	GLE1	NM_001003722.2(GLE1):c.199_202del:p.Ser67fs	coding	Pathogenic
9	128515531	CA	C	A128515534G	GLE1	NM_001003722.2(GLE1):c.327del:p.Asp110fs	coding	Pathogenic
9	128515561	GGTACTTCA	G	A128515564C	GLE1	NM_001003722.2(GLE1):c.357_364del:p.Gln121fs	coding	Pathogenic
9	128522635	TAA	T	A128522657C	GLE1	NM_001003722.2(GLE1):c.433-11_433-10del	noncoding	Benign
9	128522635	TA	T	A128522658C	GLE1	NM_001003722.2(GLE1):c.433-10del	noncoding	Benign
9	128522660	CT	C	T128522664C	GLE1	NM_001003722.2(GLE1):c.433-4del	noncoding	Benign
9	128522778	T	TAAAGAATTCCAGGACTTAGCTGACTCCCTTAGAGCAAAGGATAGACAGCCACCATTACCAAATACCATTTTTGCATGGGGATTGTGCAGCTGGCAGTGTTCCTGCCCCAGCATGGCACCTTANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	G128522796A	GLE1	NM_001003722.2(GLE1):c.560_561insAGCTGACTCCCTTAGAGCAAAGGATAGACAGCCACCATTACCAAATACCATTTTTGCATGGGGATTGTGCAGCTGGCAGTGTTCCTGCCCCAGCATGGCACCTTANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATTCCAGGACTT:p.Arg188fs	coding	Pathogenic
9	128523287	GAA	G	A128523288G	GLE1	NM_001003722.2(GLE1):c.590_591del:p.Glu197fs	coding	Pathogenic
9	128523630	CGTGAA	C	T128523632C	GLE1	NM_001003722.2(GLE1):c.683_687del:p.Val228fs	coding	Pathogenic
9	128523779	C	CT	G128523781T	GLE1	NM_001003722.2(GLE1):c.831dup:p.Ala278fs	coding	Pathogenic
9	128525204	AC	A	C128525205A	GLE1	NM_001003722.2(GLE1):c.911del:p.Thr304fs	coding	Pathogenic
9	128525208	CAG	C	A128525213T	GLE1	NM_001003722.2(GLE1):c.919_920del:p.Gln308fs	coding	Pathogenic
9	128525282	A	AC	A128525285C	GLE1	NM_001003722.2(GLE1):c.990dup:p.Arg331fs	coding	Pathogenic
9	128525385	C	CA	G128525387A	GLE1	NM_001003722.2(GLE1):c.1092dup:p.Ala365fs	coding	Pathogenic
9	128527182	TC	T	C128527184A	GLE1	NM_001003722.2(GLE1):c.1135del:p.Gln379fs	coding	Pathogenic
9	128527194	TACAAG	T	A128527198T	GLE1	NM_001003722.2(GLE1):c.1149_1153del:p.Gln383fs	coding	Pathogenic
9	128527245	AGT	A	G128527252T	GLE1	NM_001003722.2(GLE1):c.1203_1204del:p.Leu402fs	coding	Pathogenic
9	128527491	T	TA	C128527493A	GLE1	NM_001003722.2(GLE1):c.1279dup:p.Thr427fs	coding	Pathogenic
9	128527507	CA	C	A128527510T	GLE1	NM_001003722.2(GLE1):c.1297del:p.Ile433fs	coding	Pathogenic
9	128533560	GG	TA	G128533560T	GLE1	NM_001003722.2(GLE1):c.1360_1361delinsTA:p.Gly454Ter	coding	Pathogenic
9	128533844	CCCCAGAGTGGGGGA	C	C128533847T	GLE1	NM_001003722.2(GLE1):c.1542_1555del:p.Arg515fs	coding	Pathogenic
9	128538075	C	CT	G128538079T	GLE1	NM_001003722.2(GLE1):c.1869dup:p.Asp624Ter	coding	Pathogenic
9	128577230	AGCACGAGG	A	C128577232T	SPTAN1	NM_001130438.3(SPTAN1):c.889_896del:p.His297fs	coding	Pathogenic
9	128577886	T	TG	C128577891G	SPTAN1	NM_001130438.3(SPTAN1):c.1086-220dup	noncoding	Benign
9	128578089	TCTTC	T	C128578093T	SPTAN1	NM_001130438.3(SPTAN1):c.1086-17_1086-14del	noncoding	Benign
9	128581474	CA	C	A128581488C	SPTAN1	NM_001130438.3(SPTAN1):c.1462-294del	noncoding	Benign
9	128581474	C	CA	C128581489A	SPTAN1	NM_001130438.3(SPTAN1):c.1462-294dup	noncoding	Benign
9	128581487	AAC	A	C128581489A	SPTAN1	NM_001130438.3(SPTAN1):c.1462-293_1462-292del	noncoding	Benign
9	128582328	GA	G	A128582334T	SPTAN1	NM_001130438.3(SPTAN1):c.1573-145del	noncoding	Benign
9	128582813	TGA	T	G128582816A	SPTAN1	NM_001130438.3(SPTAN1):c.1773_1774del:p.Lys592fs	coding	Pathogenic
9	128585015	C	CT	G128585033T	SPTAN1	NM_001130438.3(SPTAN1):c.2560+189dup	noncoding	Benign
9	128586033	TAGG	T	G128586036A	SPTAN1	NM_001130438.3(SPTAN1):c.2778+71_2778+73del	noncoding	Benign
9	128587686	AC	A	C128587687A	SPTAN1	NM_001130438.3(SPTAN1):c.2860del:p.Gln954fs	coding	Pathogenic
9	128588896	AC	A	C128588898A	SPTAN1	NM_001130438.3(SPTAN1):c.2961del:p.Thr987_Met988insTer	coding	Pathogenic
9	128594208	TAA	T	A128594210G	SPTAN1	NM_001130438.3(SPTAN1):c.3251_3252del:p.Lys1084fs	coding	Pathogenic
9	128594237	AG	A	G128594238T	SPTAN1	NM_001130438.3(SPTAN1):c.3279del:p.Lys1093fs	coding	Pathogenic
9	128607722	T	TA	G128607723A	SPTAN1	NM_001130438.3(SPTAN1):c.4146+19_4146+20insA	noncoding	Benign
9	128615625	G	GC	A128615630C	SPTAN1	NM_001130438.3(SPTAN1):c.5149-3dup	noncoding	Benign
9	128624086	C	CA	G128624113A	SPTAN1	NM_001130438.3(SPTAN1):c.5833-216dup	noncoding	Benign
9	128626781	C	CAA	G128626782A	SPTAN1	NM_001130438.3(SPTAN1):c.6576+94_6576+95insAA	noncoding	Benign
9	128626817	T	TC	A128626819C	SPTAN1	NM_001130438.3(SPTAN1):c.6576+131dup	noncoding	Benign
9	128627367	G	GC	T128627374C	SPTAN1	NM_001130438.3(SPTAN1):c.6577-13dup	noncoding	Benign/Likely_benign
9	128632112	TC	T	C128632116A	SPTAN1	NM_001130438.3(SPTAN1):c.6763-11del	noncoding	Benign
9	128632259	TGGGACCAGC	T	G128632260T	SPTAN1	NM_001130438.3(SPTAN1):c.6896_6904del:p.Trp2299_Gln2301del	coding	Pathogenic
9	128632264	C	CCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAG	A128632311T	SPTAN1	NM_001130438.3(SPTAN1):c.6905_6946dup:p.Leu2302_Gln2315dup	coding	Pathogenic
9	128632461	C	CA	G128632465A	SPTAN1	NM_001130438.3(SPTAN1):c.6993dup:p.Glu2332fs	coding	Pathogenic
9	128634279	GCAAA	G	A128634282G	DYNC2I2	NM_052844.4(DYNC2I2):c.1315_1318del:p.Phe439fs	coding	Pathogenic
9	128634666	TGCCCCAG	T	C128634670T	DYNC2I2	NM_052844.4(DYNC2I2):c.1214+16_1214+22del	noncoding	Benign
9	128634701	G	GAACA	G128634706A	DYNC2I2	NM_052844.4(DYNC2I2):c.1198_1201dup:p.Ser401fs	coding	Pathogenic
9	128640777	CCT	C	T128640779C	DYNC2I2	NM_052844.4(DYNC2I2):c.347_348del:p.Glu116fs	coding	Pathogenic
9	128656391	AACGGTGGGACGCCCGAACCCGCCCGGCAGCC	A	A128656454G	DYNC2I2	NM_052844.4(DYNC2I2):c.186+57GGCTGCCGGGCGGGTTCGGGCGTCCCACCGT[2]	noncoding	Benign
9	128694106	G	GTATATA	G128694123T	SET	NM_003011.4(SET):c.810+65TA[11]	noncoding	Benign
9	129102995	AG	A	G129102999T	CRAT	NM_000755.5(CRAT):c.464+17del	noncoding	Benign
9	130458158	CA	C	A130458175G	ASS1	NM_054012.4(ASS1):c.175-226del	noncoding	Benign
9	130464153	G	GC	A130464160C	ASS1	NM_054012.4(ASS1):c.412dup:p.Gln138fs	coding	Pathogenic/Likely_pathogenic
9	130466761	CGGTTCAAG	C	T130466764C	ASS1	NM_054012.4(ASS1):c.460_467del:p.Phe154fs	coding	Pathogenic/Likely_pathogenic
9	130476861	CTT	C	T130476866C	ASS1	NM_054012.4(ASS1):c.598-5_598-4del	noncoding	Benign
9	130476882	TC	T	C130476884A	ASS1	NM_054012.4(ASS1):c.611del:p.Pro204fs	coding	Pathogenic
9	130479714	A	AG	T130479719G	ASS1	NC_000009.11:g.133355101_133355102insG	noncoding	Pathogenic
9	130480421	G	GA	C130480424A	ASS1	NM_054012.4(ASS1):c.812dup:p.Asn271fs	coding	Pathogenic
9	130489244	TA	T	A130489245T	ASS1	NM_054012.4(ASS1):c.839-88del	noncoding	Benign
9	130494906	GC	AA	G130494906A	ASS1	NM_054012.4(ASS1):c.1010_1011delinsAA:p.Cys337Ter	coding	Pathogenic
9	130494968	G	GGC	T130494969G	ASS1	NM_054012.4(ASS1):c.1072_1073insGC:p.Val358fs	coding	Pathogenic
9	130494997	GTC	G	C130495003A	ASS1	NM_054012.4(ASS1):c.1107_1108del:p.Tyr370fs	coding	Pathogenic
9	130501278	AGT	A	G130501323A	ASS1	Single_allele	noncoding	Benign
9	130501278	AGTGT	A	G130501321A	ASS1	Single_allele	noncoding	Benign
9	130501278	AGTGTGT	A	G130501319A	ASS1	Single_allele	noncoding	Benign
9	130501278	AGTGTGTGT	A	G130501317A	ASS1	Single_allele	noncoding	Benign
9	130501278	AGTGTGTGTGT	A	G130501315A	ASS1	Single_allele	noncoding	Benign
9	130501278	AGTGTGTGTGTGTGT	A	G130501311A	ASS1	Single_allele	noncoding	Benign
9	130664782	CGTGCTCGG	C	T130664784G	PRDM12	NM_021619.3(PRDM12):c.131_138del:p.Val44fs	coding	Pathogenic
9	130668313	G	GGT	C130668331T	PRDM12	NM_021619.3(PRDM12):c.570+1GT[9]	coding	Benign
9	130668313	GGT	G	T130668329C	PRDM12	NM_021619.3(PRDM12):c.570+1GT[7]	coding	Benign
9	130681045	TC	T	C130681048T	PRDM12	NM_021619.3(PRDM12):c.683-200del	noncoding	Benign
9	130681605	T	TCCG	G130681607C	PRDM12	NM_021619.3(PRDM12):c.1041_1042insCGC:p.Leu347_Ala348insArg	coding	Benign
9	130681636	C	CGCG	C130681639G	PRDM12	NM_021619.3(PRDM12):c.1073_1074insGGC:p.Ala359dup	coding	Benign
9	130695601	CA	C	A130695605G	EXOSC2	NM_014285.7(EXOSC2):c.224+12del	noncoding	Benign
9	131009528	G	GC	G131009532C	LAMC3	NM_006059.4(LAMC3):c.317dup:p.Ser107fs	coding	Pathogenic
9	131009544	C	CG	C131009547G	LAMC3	NM_006059.4(LAMC3):c.332dup:p.Val112fs	coding	Pathogenic
9	131032163	CTG	C	T131032166G	LAMC3	NM_006059.4(LAMC3):c.800_801del:p.Val267fs	coding	Pathogenic
9	131032246	TGGGGTGG	T	T131032258G	LAMC3	NM_006059.4(LAMC3):c.809+83_809+89del	noncoding	Benign
9	131032258	TG	T	G131032265C	LAMC3	NM_006059.4(LAMC3):c.809+90del	noncoding	Benign
9	131032427	G	GTTCC	C131032441T	LAMC3	NM_006059.4(LAMC3):c.809+253TTCC[4]	noncoding	Benign
9	131045221	CA	C	A131045236C	LAMC3	NM_006059.4(LAMC3):c.1383-288del	noncoding	Benign
9	131045221	C	CAA	C131045237A	LAMC3	NM_006059.4(LAMC3):c.1383-289_1383-288dup	noncoding	Benign
9	131045229	A	AC	A131045230C	LAMC3	NM_006059.4(LAMC3):c.1383-295_1383-294insC	noncoding	Benign
9	131045231	A	AC	A131045232C	LAMC3	NM_006059.4(LAMC3):c.1383-293_1383-292insC	noncoding	Benign
9	131045231	A	ACAAC	A131045232C	LAMC3	NM_006059.4(LAMC3):c.1383-293_1383-292insCAAC	noncoding	Benign
9	131045234	A	AAC	A131045236C	LAMC3	NM_006059.4(LAMC3):c.1383-289_1383-288insCA	noncoding	Benign
9	131045234	AAAC	A	C131045246A	LAMC3	NM_006059.4(LAMC3):c.1383-289AAC[3]	noncoding	Benign
9	131045246	C	CAAA	C131045254A	LAMC3	NM_006059.4(LAMC3):c.1383-273_1383-271dup	noncoding	Benign
9	131045610	C	CGT	C131045613G	LAMC3	NM_006059.4(LAMC3):c.1470_1471dup:p.Ser491fs	coding	Pathogenic
9	131052552	G	GC	G131052559C	LAMC3	NM_006059.4(LAMC3):c.1698dup:p.Gly567fs	coding	Pathogenic
9	131052586	AG	A	G131052588C	LAMC3	NM_006059.4(LAMC3):c.1728del:p.Arg576fs	coding	Pathogenic
9	131056914	CT	C	T131056916C	LAMC3	NM_006059.4(LAMC3):c.1940-13del	noncoding	Benign
9	131057078	CA	C	A131057079G	LAMC3	NM_006059.4(LAMC3):c.2090del:p.Gln697fs	coding	Pathogenic
9	131061206	GC	G	C131061212G	LAMC3	NM_006059.4(LAMC3):c.2336del:p.Pro779fs	coding	Pathogenic
9	131066988	C	CT	G131066995T	LAMC3	NM_006059.4(LAMC3):c.2382dup:p.Gly795fs	coding	Pathogenic
9	131067091	CT	C	T131067092G	LAMC3	NM_006059.4(LAMC3):c.2480del:p.Leu827fs	coding	Pathogenic
9	131068590	CAA	C	A131068592C	LAMC3	NM_006059.4(LAMC3):c.2748-316_2748-315del	noncoding	Benign
9	131071462	C	CT	C131071467T	LAMC3	NM_006059.4(LAMC3):c.3070-18dup	noncoding	Benign
9	131072848	A	AC	T131072855C	LAMC3	NM_006059.4(LAMC3):c.3417+19dup	noncoding	Benign
9	131073262	TC	T	C131073265A	LAMC3	NM_006059.4(LAMC3):c.3438del:p.Ser1147fs	coding	Pathogenic
9	131073296	ACAGAGGCC	A	A131073298G	LAMC3	NM_006059.4(LAMC3):c.3471_3478del:p.Glu1158fs	coding	Pathogenic
9	131082083	CT	C	T131082084G	LAMC3	NM_006059.4(LAMC3):c.3953del:p.Leu1318fs	coding	Pathogenic
9	131091923	T	TCA	T131091927A	LAMC3	NM_006059.4(LAMC3):c.*138_*139dup	noncoding	Benign
9	131504275	T	TG	T131504277G	POMT1	NM_001077365.2(POMT1):c.58dup:p.Val20fs	coding	Pathogenic
9	131504287	TG	T	G131504290A	POMT1	NM_001077365.2(POMT1):c.72del:p.Met25fs	coding	Pathogenic
9	131506135	G	GCAGTACATCTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A131506152T	POMT1	NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT:p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
9	131506439	ACAGAATTGGAG	A	A131506443G	POMT1	NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG:p.Gly92fs	coding	Pathogenic
9	131510165	GT	G	T131510168C	POMT1	NM_001077365.2(POMT1):c.700-92del	noncoding	Benign
9	131511336	GGGAGGACTAGCTC	G	G131511340T	POMT1	NM_001077365.2(POMT1):c.859_871del:p.Gly287fs	noncoding	Pathogenic
9	131513247	T	TGGGGAGCACGGTGTGGAACGTG	T131513250G	POMT1	NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG:p.Val365fs	coding	Pathogenic
9	131513312	AC	A	C131513314A	POMT1	NM_001077365.2(POMT1):c.1158del:p.Thr387fs	coding	Pathogenic
9	131513333	TG	T	G131513334A	POMT1	NM_001077365.2(POMT1):c.1175+3del	noncoding	Pathogenic
9	131515449	G	GC	A131515455C	POMT1	NM_001077365.2(POMT1):c.1204dup:p.His402fs	coding	Pathogenic
9	131518533	TA	T	A131518536G	POMT1	NM_001077365.2(POMT1):c.1364del:p.Lys455fs	coding	Pathogenic
9	131522961	CCCTGGTGGTGG	C	G131522968A	POMT1	NM_001077365.2(POMT1):c.2040_2050del:p.Val681fs	coding	Pathogenic/Likely_pathogenic
9	132014422	ACT	A	C132014423G	MED27	NM_004269.4(MED27):c.392_393del:p.Gln131fs	coding	Pathogenic
9	132263806	ATC	A	C132263808T	SETX	NM_015046.7(SETX):c.*431_*432del	noncoding	Benign/Likely_benign
9	132263808	C	CT	G132263820T	SETX	NM_015046.7(SETX):c.*430dup	noncoding	Benign
9	132264980	G	GT	C132264985T	SETX	NM_015046.7(SETX):c.7292dup:p.Asn2431fs	coding	Pathogenic
9	132265177	T	TA	T132265183A	SETX	NM_015046.7(SETX):c.7288-197dup	noncoding	Benign
9	132271661	A	AAGCAACAATGTATACAAGTATAAAAG	A132271698T	SETX	NM_015046.7(SETX):c.7199+23_7199+48dup	noncoding	Benign
9	132277156	T	TA	G132277169A	SETX	NM_015046.7(SETX):c.6843-16dup	noncoding	Benign
9	132277815	ACTG	A	C132277819A	SETX	NM_015046.7(SETX):c.6842+252_6842+254del	noncoding	Benign
9	132278181	TTG	T	G132278185T	SETX	NM_015046.7(SETX):c.6729_6730del:p.His2243fs	coding	Pathogenic/Likely_pathogenic
9	132283160	C	CA	C132283173A	SETX	NM_015046.7(SETX):c.6546+92dup	noncoding	Benign
9	132286379	GA	G	A132286392T	SETX	NM_015046.7(SETX):c.6396+43del	noncoding	Benign
9	132288175	C	CA	C132288184A	SETX	NM_015046.7(SETX):c.6324+53dup	noncoding	Benign
9	132297015	CT	C	T132297018C	SETX	NM_015046.7(SETX):c.5820del:p.Ala1941fs	coding	Pathogenic
9	132297178	CAGACA	C	A132297186G	SETX	NM_015046.7(SETX):c.5782-129_5782-125del	noncoding	Benign
9	132311869	CA	C	A132311873G	SETX	NM_015046.7(SETX):c.5275-14del	noncoding	Benign
9	132326665	CTA	C	A132326667G	SETX	NM_015046.7(SETX):c.4931_4932del:p.Ile1644fs	coding	Pathogenic
9	132326966	CAA	C	A132326968G	SETX	NM_015046.7(SETX):c.4630_4631del:p.Leu1544fs	coding	Pathogenic/Likely_pathogenic
9	132331672	T	TA	T132331688A	SETX	NM_015046.7(SETX):c.839-239dup	noncoding	Benign
9	132335032	G	GAA	T132335043A	SETX	NM_015046.7(SETX):c.719-315_719-314dup	noncoding	Benign
9	132335032	G	GA	T132335043A	SETX	NM_015046.7(SETX):c.719-315dup	noncoding	Benign
9	132336222	AAC	A	C132336224G	SETX	NM_015046.7(SETX):c.718+72_718+73del	noncoding	Benign
9	132353505	TG	T	G132353515C	SETX	NM_015046.7(SETX):c.-8+143del	noncoding	Benign
9	132353505	T	TG	C132353516G	SETX	NM_015046.7(SETX):c.-8+134dup	noncoding	Benign
9	132353630	T	TA	T132353642A	SETX	NM_015046.7(SETX):c.-8+8dup	noncoding	Benign
9	132355091	GT	G	T132355095G	SETX	Single_allele	noncoding	Benign
9	132896600	C	CGCTGCTGCT	C132896621T	TSC1	NM_000368.5(TSC1):c.3112AGC[9]:p.Ser1041_Ser1043dup	coding	Benign
9	132897464	C	CAAAAGAAGGTGGTCTTTCGGCCGGGCGCGCTGGCGCACGCCAGTAATCCCAGCACTGTGGGAGGCCCAACACGGCGTCTACCGAGGACACGAGAGCGAGANNNNNNNNNNTTCTGTCGAGCTTGACTTGAGGATTTACCCCCCAATACAAAAACAACCTGCGCTACTGATGAATGTTACCTTTAAAAAAAAAATAAAAAAAAAAAAAATAAAAAATAAAAA	T132897483G	TSC1	NM_000368.5(TSC1):c.2771_2772insTTTTTATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTAAAGGTAACATTCATCAGTAGCGCAGGTTGTTTTTGTATTGGGGGGTAAATCCTCAAGTCAAGCTCGACAGAANNNNNNNNNNTCTCGCTCTCGTGTCCTCGGTAGACGCCGTGTTGGGCCTCCCACAGTGCTGGGATTACTGGCGTGCGCCAGCGCGCCCGGCCGAAAGACCACCTTCTTTT:p.Leu924delinsPhePheTyrPheLeuPhePhePhePheLeuPhePhePheTer	coding	Pathogenic
9	132897488	CAGGTG	C	G132897491A	TSC1	NM_000368.5(TSC1):c.2743_2747del:p.His915fs	coding	Pathogenic
9	132897561	CT	C	T132897562G	TSC1	NM_000368.5(TSC1):c.2674del:p.Arg892fs	coding	Pathogenic
9	132897563	G	GTT	C132897571T	TSC1	NM_000368.5(TSC1):c.2671_2672dup:p.Asn891fs	coding	Pathogenic
9	132897600	AT	A	T132897603C	TSC1	NM_000368.5(TSC1):c.2635del:p.Glu878_Met879insTer	coding	Pathogenic
9	132897612	T	TG	A132897614G	TSC1	NM_000368.5(TSC1):c.2626-3dup	noncoding	Benign/Likely_benign
9	132897613	GAAAA	G	A132897628G	TSC1	NM_000368.5(TSC1):c.2626-7_2626-4del	noncoding	Benign
9	132897613	G	GAAAAAAA	G132897632A	TSC1	NM_000368.5(TSC1):c.2626-10_2626-4dup	noncoding	Benign
9	132900331	G	GA	T132900343A	TSC1	NM_000368.5(TSC1):c.2625+373dup	noncoding	Benign
9	132900780	C	CTT	C132900781T	TSC1	NM_000368.5(TSC1):c.2559_2560insAA:p.Val854fs	coding	Pathogenic
9	132900783	AC	A	C132900784A	TSC1	NM_000368.5(TSC1):c.2556del:p.Leu853fs	coding	Pathogenic
9	132900787	CTGCCTGT	C	G132900789C	TSC1	NM_000368.5(TSC1):c.2546_2552del:p.Asn849fs	coding	Pathogenic
9	132900792	TG	T	G132900793T	TSC1	NM_000368.5(TSC1):c.2547del:p.Asn849fs	coding	Pathogenic
9	132901593	T	TG	A132901597G	TSC1	NM_000368.5(TSC1):c.2497dup:p.Gln833fs	coding	Pathogenic
9	132901610	C	CAGCA	G132901615A	TSC1	NM_000368.5(TSC1):c.2477_2480dup:p.Leu828fs	coding	Pathogenic
9	132902653	C	CTT	G132902655T	TSC1	NM_000368.5(TSC1):c.2342_2343insAA:p.Leu782fs	coding	Pathogenic
9	132902666	CT	C	T132902667G	TSC1	NM_000368.5(TSC1):c.2329del:p.Ser777fs	coding	Pathogenic
9	132902691	C	CA	C132902693A	TSC1	NM_000368.5(TSC1):c.2304dup:p.Asp769Ter	coding	Pathogenic
9	132902692	ACGCTGCTCCTGGAGCTGATTGTATCTAG	A	G132902694T	TSC1	NM_000368.5(TSC1):c.2276_2303del:p.Ala759fs	coding	Pathogenic
9	132902724	GTTCT	G	T132902729G	TSC1	NM_000368.5(TSC1):c.2268_2271del:p.Lys756fs	coding	Pathogenic
9	132902738	C	CT	A132902740T	TSC1	NM_000368.5(TSC1):c.2257dup:p.Ser753fs	coding	Pathogenic
9	132902753	TGG	T	G132902754A	TSC1	NM_000368.5(TSC1):c.2241_2242del:p.Gln748fs	coding	Pathogenic
9	132902782	A	ATC	T132902786C	TSC1	NM_000368.5(TSC1):c.2212_2213dup:p.Asp738fs	coding	Pathogenic
9	132903691	AC	A	C132903693T	TSC1	NM_000368.5(TSC1):c.2167del:p.Lys722_Val723insTer	coding	Pathogenic
9	132903717	GA	G	A132903718G	TSC1	NM_000368.5(TSC1):c.2141del:p.Leu714fs	coding	Pathogenic
9	132903728	G	GC	T132903730C	TSC1	NM_000368.5(TSC1):c.2130dup:p.Gln711fs	coding	Pathogenic
9	132903763	TGCAGTAAAAGCAACTG	T	C132903765T	TSC1	NM_000368.5(TSC1):c.2080_2095del:p.Gln694fs	coding	Pathogenic
9	132903768	TA	T	A132903772G	TSC1	NM_000368.5(TSC1):c.2090del:p.Leu697fs	coding	Pathogenic
9	132903793	C	CG	A132903796G	TSC1	NM_000368.5(TSC1):c.2065dup:p.Arg689fs	coding	Pathogenic
9	132903808	GGAGGA	G	G132903812C	TSC1	NM_000368.5(TSC1):c.2046_2050del:p.Pro683fs	coding	Pathogenic
9	132904409	ACCTC	A	C132904411A	TSC1	NM_000368.5(TSC1):c.2039_2041+1del	noncoding	Pathogenic
9	132904412	TC	T	C132904414A	TSC1	NM_000368.5(TSC1):c.2039del:p.Gly680fs	coding	Pathogenic
9	132904418	GT	G	T132904419G	TSC1	NM_000368.5(TSC1):c.2033del:p.His678fs	coding	Pathogenic
9	132904619	TACACTGG	T	T132904624A	TSC1	NM_000368.5(TSC1):c.1998-172_1998-166del	noncoding	Benign
9	132905593	T	TTGCTGTGCGCGTCTGCTCCC	A132905620G	TSC1	NM_000368.5(TSC1):c.1965_1984dup:p.Lys662fs	coding	Pathogenic
9	132905633	G	GC	A132905635C	TSC1	NM_000368.5(TSC1):c.1944dup:p.Leu649fs	coding	Pathogenic
9	132905641	A	AT	G132905644T	TSC1	NM_000368.5(TSC1):c.1936dup:p.Met646fs	coding	Pathogenic
9	132905659	A	AC	A132905661C	TSC1	NM_000368.5(TSC1):c.1918dup:p.Val640fs	coding	Pathogenic
9	132905679	TC	T	C132905681T	TSC1	NM_000368.5(TSC1):c.1898del:p.Gly633fs	coding	Pathogenic
9	132905701	T	TCCTC	A132905706C	TSC1	NM_000368.5(TSC1):c.1873_1876dup:p.Glu626fs	coding	Pathogenic
9	132905705	C	CA	G132905707A	TSC1	NM_000368.5(TSC1):c.1872dup:p.Glu625Ter	coding	Pathogenic
9	132905725	T	TGATG	G132905731A	TSC1	NM_000368.5(TSC1):c.1849_1852dup:p.His618fs	coding	Pathogenic
9	132905761	TG	T	G132905762A	TSC1	NM_000368.5(TSC1):c.1816del:p.His606fs	coding	Pathogenic
9	132905766	A	ATACG	G132905771T	TSC1	NM_000368.5(TSC1):c.1808_1811dup:p.Asp605fs	coding	Pathogenic
9	132905780	GC	G	C132905783G	TSC1	NM_000368.5(TSC1):c.1797del:p.Gln600fs	coding	Pathogenic
9	132905828	TG	T	G132905831A	TSC1	NM_000368.5(TSC1):c.1749del:p.Ser584fs	coding	Pathogenic
9	132905850	CAA	C	A132905852G	TSC1	NM_000368.5(TSC1):c.1726_1727del:p.Leu576fs	coding	Pathogenic
9	132905875	C	CCCGCAGGGCTTTCATCAGCACTG	A132905908T	TSC1	NM_000368.5(TSC1):c.1680_1702dup:p.Gly568fs	coding	Pathogenic
9	132905884	C	CTT	C132905888T	TSC1	NM_000368.5(TSC1):c.1692_1693dup:p.Ser565fs	coding	Pathogenic
9	132905898	G	GC	G132905901C	TSC1	NM_000368.5(TSC1):c.1679dup:p.Ser561fs	coding	Pathogenic
9	132906033	AGAAC	A	G132906034C	TSC1	NM_000368.5(TSC1):c.1541_1544del:p.Gly514fs	coding	Pathogenic
9	132906045	AC	A	C132906046T	TSC1	NM_000368.5(TSC1):c.1532del:p.Ser511fs	coding	Pathogenic
9	132906110	TG	T	G132906111A	TSC1	NM_000368.5(TSC1):c.1467del:p.Thr490fs	coding	Pathogenic
9	132906548	CA	C	A132906567G	TSC1	NM_000368.5(TSC1):c.1438+182del	noncoding	Benign
9	132906548	C	CA	G132906568A	TSC1	NM_000368.5(TSC1):c.1438+164dup	noncoding	Benign
9	132906756	AT	A	T132906757C	TSC1	NM_000368.5(TSC1):c.1412del:p.Asp471fs	coding	Pathogenic
9	132906783	AAACC	A	A132906784C	TSC1	NM_000368.5(TSC1):c.1382_1385del:p.Gly461fs	coding	Pathogenic
9	132907306	CCT	C	C132907309G	TSC1	NM_000368.5(TSC1):c.1326_1327del:p.Gly443fs	coding	Pathogenic/Likely_pathogenic
9	132907335	GTGTAGACATGGTCT	G	T132907338C	TSC1	NM_000368.5(TSC1):c.1285_1298del:p.Arg429fs	coding	Pathogenic
9	132907354	GA	G	A132907356T	TSC1	NM_000368.5(TSC1):c.1279del:p.Ser427fs	coding	Pathogenic
9	132910301	CA	C	A132910323T	TSC1	NM_000368.5(TSC1):c.1263+269del	noncoding	Benign
9	132910562	G	GGAT	C132910566G	TSC1	NM_000368.5(TSC1):c.1263+6_1263+8dup	noncoding	Benign/Likely_benign
9	132910632	CA	C	A132910633G	TSC1	NM_000368.5(TSC1):c.1201del:p.Cys401fs	coding	Pathogenic
9	132910638	GG	CA	G132910638C	TSC1	NM_000368.5(TSC1):c.1195_1196delinsTG:p.Pro399Ter	coding	Pathogenic
9	132910641	GC	G	C132910642T	TSC1	NM_000368.5(TSC1):c.1192del:p.Ala398fs	coding	Pathogenic/Likely_pathogenic
9	132910661	TG	T	G132910665T	TSC1	NM_000368.5(TSC1):c.1172del:p.Pro391fs	coding	Pathogenic
9	132911033	TGACAGATCAGGTGG	T	G132911038T	TSC1	NM_000368.5(TSC1):c.1096_1109del:p.Pro366fs	coding	Pathogenic
9	132911095	AT	A	T132911096G	TSC1	NM_000368.5(TSC1):c.1047del:p.Ser350fs	coding	Pathogenic
9	132911112	GC	G	C132911114T	TSC1	NM_000368.4(TSC1):c.1030delG	coding	Pathogenic
9	132911536	G	GA	G132911538A	TSC1	NM_000368.5(TSC1):c.945dup:p.Arg316fs	coding	Pathogenic
9	132911625	TAAAAAA	T	A132911651G	TSC1	NM_000368.5(TSC1):c.914-63_914-58del	noncoding	Benign
9	132911625	TAAAAA	T	A132911652G	TSC1	NM_000368.5(TSC1):c.914-62_914-58del	noncoding	Benign
9	132911625	TAA	T	A132911655G	TSC1	NM_000368.5(TSC1):c.914-59_914-58del	noncoding	Benign
9	132911625	TA	T	A132911656G	TSC1	NM_000368.5(TSC1):c.914-58del	noncoding	Benign
9	132912291	T	TC	T132912293C	TSC1	NM_000368.5(TSC1):c.903dup:p.Asn302fs	coding	Pathogenic
9	132912421	C	CTA	C132912423A	TSC1	NM_000368.5(TSC1):c.773_774insTA:p.Glu258fs	coding	Pathogenic
9	132921898	T	TAC	T132921902C	TSC1	NM_000368.5(TSC1):c.582_583dup:p.Tyr195fs	coding	Pathogenic
9	132921912	GC	AG	G132921912A	TSC1	NM_000368.5(TSC1):c.569_570delinsCT:p.Arg190Pro	coding	Pathogenic
9	132921919	A	AAG	T132921924A	TSC1	NM_000368.5(TSC1):c.561_562dup:p.Phe188fs	coding	Pathogenic
9	132921955	TA	T	A132921956G	TSC1	NM_000368.5(TSC1):c.526del:p.Tyr176fs	coding	Pathogenic
9	132921955	T	TA	G132921957A	TSC1	NM_000368.5(TSC1):c.526dup:p.Tyr176fs	coding	Pathogenic
9	132923369	AT	A	T132923370G	TSC1	NM_000368.5(TSC1):c.486del:p.Ser163fs	coding	Pathogenic
9	132923449	AACACCAAGAC	A	A132923450G	TSC1	NM_000368.5(TSC1):c.397_406del:p.Gly132_Val133insTer	coding	Pathogenic
9	132923450	ACACCAAGACGCCT	A	C132923451G	TSC1	NM_000368.5(TSC1):c.393_405del:p.Thr131_Gly132insTer	coding	Pathogenic
9	132923454	CA	C	A132923456G	TSC1	NM_000368.5(TSC1):c.401del:p.Leu134fs	coding	Pathogenic
9	132923457	G	GA	C132923459A	TSC1	NM_000368.5(TSC1):c.398dup:p.Val135fs	coding	Pathogenic
9	132925605	AG	A	G132925606A	TSC1	NM_000368.5(TSC1):c.344del:p.Ser115fs	coding	Pathogenic
9	132925606	GA	G	A132925608G	TSC1	NM_000368.5(TSC1):c.343del:p.Ser115fs	coding	Pathogenic
9	132925611	CAA	C	A132925614G	TSC1	NM_000368.5(TSC1):c.337_338del:p.Leu113fs	coding	Pathogenic
9	132925673	GTAACGAGAGGATGG	TA	G132925673T	TSC1	NM_000368.5(TSC1):c.263_277delinsTA:p.Ser88fs	coding	Pathogenic
9	132925709	CCA	C	C132925712T	TSC1	NM_000368.5(TSC1):c.239_240del:p.Val80fs	coding	Pathogenic
9	132925749	T	TA	G132925754A	TSC1	NM_000368.5(TSC1):c.211-11dup	noncoding	Benign/Likely_benign
9	132927229	A	AG	A132927232G	TSC1	NM_000368.5(TSC1):c.181dup:p.Leu61fs	coding	Pathogenic
9	132927229	AG	A	G132927231A	TSC1	NM_000368.5(TSC1):c.181del:p.Ile60_Leu61insTer	coding	Pathogenic
9	132927271	TC	T	C132927273A	TSC1	NM_000368.5(TSC1):c.139del:p.Asp47fs	coding	Pathogenic
9	132928855	AT	A	T132928858G	TSC1	NM_000368.5(TSC1):c.17del:p.Asn6fs	coding	Pathogenic
9	132944529	A	AC	A132944535C	TSC1	NM_000368.5(TSC1):c.-144+9dup	noncoding	Benign
9	133071178	CT	C	T133071179G	CEL	NM_001807.6(CEL):c.1677del:p.Val560fs	coding	Pathogenic
9	133352075	C	CTGCA	G133352080T	SURF1	NM_003172.4(SURF1):c.815_818dup:p.Gln273fs	coding	Pathogenic
9	133352081	ATGCTC	A	T133352082G	SURF1	NM_003172.4(SURF1):c.808_812del:p.Glu270fs	coding	Pathogenic
9	133352109	TGCCCTCCAATGG	T	C133352111T	SURF1	NM_003172.4(SURF1):c.773_784del:p.Pro258_Gly261del	coding	Pathogenic
9	133352119	TGG	T	G133352121T	SURF1	NM_003172.4(SURF1):c.773_774del:p.Pro258fs	coding	Pathogenic
9	133352554	GCTGCCTGGTTT	G	C133352558T	SURF1	NM_003172.4(SURF1):c.632_642del:p.Glu211fs	coding	Pathogenic
9	133352598	TCTCC	T	C133352602A	SURF1	NM_003172.4(SURF1):c.595_598del:p.Gly199fs	coding	Pathogenic
9	133352707	C	CGGAG	G133352710A	SURF1	NM_003172.4(SURF1):c.574_575insCTCC:p.Arg192fs	coding	Pathogenic
9	133352729	TC	T	C133352731T	SURF1	NM_003172.4(SURF1):c.552del:p.Lys185fs	coding	Pathogenic
9	133353777	CCA	C	C133353780T	SURF1	NM_003172.4(SURF1):c.485_486del:p.Val162fs	coding	Pathogenic
9	133353895	CCT	C	C133353896G	SURF1	NM_003172.4(SURF1):c.367_368del:p.Arg123fs	coding	Pathogenic
9	133354698	TC	T	C133354700A	SURF1	NM_003172.4(SURF1):c.283del:p.Glu95fs	coding	Pathogenic
9	133354708	CA	C	A133354710T	SURF1	NM_003172.4(SURF1):c.273del:p.Ile91fs	coding	Pathogenic
9	133354911	T	TG	C133354913G	SURF1	NM_003172.4(SURF1):c.152dup:p.Ser52fs	coding	Pathogenic
9	133356315	C	CGG	C133356320G	SURF1	NM_003172.4(SURF1):c.58_59dup:p.Ala21fs	coding	Pathogenic
9	133356366	G	GCCCCGCA	G133356391C	SURF1	NM_003172.4(SURF1):c.54+13TGCGGGG[4]	noncoding	Benign
9	133356418	CCGCAGCCCCAGCTGCAA	C	C133356426A	SURF1	NM_003172.4(SURF1):c.19_35del:p.Leu7fs	coding	Pathogenic
9	133436910	GGC	G	G133436913C	ADAMTS13	NM_139027.6(ADAMTS13):c.1393_1394del:p.Ala465fs	coding	Pathogenic
9	133651940	G	GGGTGTCT	A133651956G	DBH	NM_000787.4(DBH):c.1335+164GGTGTCT[3]	noncoding	Benign
9	133652297	CG	C	G133652300A	DBH	NM_000787.4(DBH):c.1374+16del	noncoding	Benign
9	134642291	GC	G	C134642292G	COL5A1	NM_000093.5(COL5A1):c.105del:p.Ala36fs	coding	Pathogenic
9	134699949	GA	G	A134699952G	COL5A1	NM_000093.5(COL5A1):c.321del:p.Ala108fs	coding	Pathogenic
9	134727046	C	CGGAT	G134727081A	COL5A1	NM_000093.5(COL5A1):c.655-219GGAT[9]	noncoding	Benign
9	134727046	CGGAT	C	A134727077G	COL5A1	NM_000093.5(COL5A1):c.655-219GGAT[7]	noncoding	Benign
9	134727070	T	TGGATGGATGGAC	G134727081A	COL5A1	NM_000093.5(COL5A1):c.655-186_655-185insACGGATGGATGG	noncoding	Benign
9	134732063	A	AC	A134732069C	COL5A1	NM_000093.5(COL5A1):c.1333-3dup	noncoding	Benign/Likely_benign
9	134738931	TC	T	C134738937T	COL5A1	NM_000093.5(COL5A1):c.1494+129del	noncoding	Benign
9	134750847	G	GAGT	C134750851A	COL5A1	NM_000093.5(COL5A1):c.1628_1630dup:p.Ser544Ter	coding	Pathogenic
9	134750849	GT	G	T134750850C	COL5A1	NM_000093.5(COL5A1):c.1630del:p.Ser544fs	coding	Pathogenic
9	134752419	C	CA	G134752420A	COL5A1	NM_000093.5(COL5A1):c.1663-170_1663-169insA	noncoding	Benign
9	134752419	CG	C	G134752431C	COL5A1	NM_000093.5(COL5A1):c.1663-158del	noncoding	Benign
9	134752419	CGG	C	G134752430C	COL5A1	NM_000093.5(COL5A1):c.1663-159_1663-158del	noncoding	Benign
9	134752419	CGGG	C	G134752429C	COL5A1	NM_000093.5(COL5A1):c.1663-160_1663-158del	noncoding	Benign
9	134753713	AGGTCGCGCTTTGTGTGCTGAGCACCGTGGCCGAAGCCCTGTCCCCTCCCCCTGCCCCTCCCCTGCCACCCCCAGCCCTTCCTGTGTTCTCGAGTCCCCACCTCGAGCAGACATTAACACACACCATGTCTCCCTAGGGTCCCCCTGGGAGCGGAGGTTTGAAGGGCGAGCCGGGAGACGTGGGGCCTCAGGTATGTGGGATCCTTGCCTTCGCTGTCTGGTGGGCGCCTCCCGTTCTCCGGCGGCAGCGACGGCGAGCATGGAGGGACCCCAACTGCTGCATGTTTTCAAGGAAATTCGTGGGAATTGTCCTTGCTTTACGCAGTGCTGAGGGTGGAGCACAATGAACTCTGACACCTGCGGCAGAAATGAGCTGGCTGTATTCTGTCCCTGGCCTTCATTCTGGGCAGCAGATCCGTGTCCCGTCCCCGAAGTGCCCACATGTTTGTGGCTTGGACAGCCAGGCATGGGCAGGGTCGATGAGCACAGGGACAAGGCTTTGCTCTTTCTCCTGAGAAAGGCGGACTCGCCACTGACCCTTTGTCTCTTACCCCTGGCAGGGTCCTCGAGGTGTGCAAGGCCCGCCTGGTCCGGCCGGGAAGCCCGGAAGACGGGTGAGTGGTGCGAGTGTGTGTGGTTTAGTGACAGCAGCTTGGGCGCTGGAGGAGCCCAAATCTGGGGTGCGGGCACCCCCAACAGCCAGCTGGGCCACATGAAGCCAGGTGGCTCCCCTTCTTGTGATGGGTGCGTCCATCCCCAAGGCTGCCTCTGAGCCAGCTGCCTGGGAGGGGCGCTCTGTGTCCTGGGCGCAGACACAGCGGACCAGGCCTCTTCCCTGGGCACATTCATTTAGTTTAATAAACCTTTCTAATTCAAGAAACTTCCCAGGCCCTTTGGGAGCAAATGTTAAGAAGACAAAACTATCAGCGGGCCTTATATATTTCGGGCAGCACTGGGACTCCAGAAATGGCCTGATTCGGGGGCATGGGCGGGCCTTCCTGCGCCTTACCTGCTGTCTTGCCTCCTGGAATTTTCTGTCTGGTGCATGGTTCTCCTGGATGGAACTGGTTTGTTTGCACATGACCCTGGCTTCTAAAAGAGGACACACGTTTCCCGAGTGCTGACCACCACCCAGACAGGCTGGGGCAGGCCCTGGGAGCCCAGATTGTGCTCTCAAAAGTGGACCTTTTCAACCAGCAGACCTTTCTGGTGAACGAGAGAAATTTCGGTGCAGGGTTGGATTTGTTTCAGTGTGGACCTCTTCCCAGTATGTTGTCTACCTAAGCTACCCTTGACTGCTATAGTCTGAGTCAACAAGGCAAAAATGGGTCCTTCCCTAGTGGTTCTGGATGCTCCTGACTTGGGGAGCAAGCTGTGGTTAGTGGGTAGAAATGACCCGATAAGCCGCAGTTTGGCAGGTCCGAGGGTCTATGCAGGGATCTGGGCATGAAACAGAGGCCTGGGCTGGATAATTCCAGGAGGATTAGCAGCTCTGGAATCGACTCTTGGTAGACAATTGGGCCATTTATTTGGATCTGATTCTGAAAAATGTTTTATTTCCTTAAGGTGTTTTTGTGTGTCTCCGTAAATCCTTCCCACCCAGTTTCACTAGAACTGGTTTCCTAGAGTGAGGTTAAAAACTGGAACAAGAGGAGACTCGGGAAATGCTGTCTAACATGGCCAGCTGCAGAGTTGCATGGTGTCGGGGCCATGCATATGCGTGTGTTTTAAGGCATTAAGTATGCCCAGAAGATCTGCTGCAGAAGAAAAGATGGTGGTGAGAGAGGGGCTTGGAGCTGAGGGGTCGATTCCAAAGTGGTCTGAGCAGCCTCTTCCATTCTTTGCTAGCATTTCCTGCAAGGAACGCTCGCTTGTGAATTGTAGAAGCATCTGGGTGCTTTGCGGGGCTGAGTTGTGCTGTGAAATCCTGTGAAGTTTTCCGACAATCTTCCCTTGGTTTCTAAAAGTGTTTGGAAATCTAGAAGAGGCTCCCAATGGGCCCCTCCATTTGCCCAACAGGGCGATGTCTTTTTGGGGAGCAACGGGAGCACCGACTGTCTCCTTGGGGTGTGTTTGGATTTCTCTCTTTTTGCTTCTCGGCTGTTCTCGGGTGCCACCTTGTCTGTCTCCAGTGCTTTGAGACCCTAAGCTGCCACCCTCCAGATCTTCTCTCTGCTTGGTGGTGGGTTGGGGGCAAGGGCCTCATATGAGGAGGAGCCCCTGGAAAATGGAAGTGCAGGGTGGCAGCCCTCTATACTCGCTGGCTGGGGTGCCTCGTTGTGCAGGGTGGCAGCCCTCTGTTCTCGCTGGCTGGGGTGCCTCATTGGCGTGGAGGTCTGGCTGAGTTTCATAGAGACCCTGTTCCCTTGCAGGGCTCTCCTGTGGTGAAGGTGGGGCCTGCACAGTGGGCCCCGGAAGGTCTAGGTCCCCTCTTCAGCCCCATGGCCAGTCAGTTGGGCACCTTGTCCTTGACTGTGTCCATAGCTGGCCATCAGGAACAGGGCATCTGCTCACCGTGCAGATGCTGCCTCCCGTCGCTGTGTGGTCTGAGTGAGACTGGGCCTCACTTGGGGCCTGGGCCTCTTCCTTAGCCAAGTGGACAAACCAGATGTGTCCTTTCTCTCTTTCCTCTGACCTCCAAATGGTGGAAAGGAGCTGTGCTGTCTGTGATGTCAGTGGCCTGCACTCGCCTGAGTCCTAAATTCACGGTCCCCTAGACTGACGCAGCTCCTCCAGCCGGGTCTCCTCTGCCACATTGTGGCGTCTTCTCGAAGCCCAGGGGCAGTGGCGTGATCCCCCTTTGACAGTCTGGGATGACGTGGTCCGGAAAGACCAGCCCCGTGTGTTCCATCCGTTGGTGTGAGGCACAGAACAGCCCCGCCCGGGCTCCTGGATCTGGGTCCTCGCAGCAGCCCGGCCACTCGGGCTGTGACCTTGGGGGTGGGCGCGGCTCTGGTGGAACGCTCAACTTGGTTTAACGGAAAACCATGGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGTCATGTTGATGATGTAACCAAAATGCTGGTTATGTGATGACTACGATTATGATGACAGGTGGCTCCGTCACTGGCATTTGACGTGAAGATAGGGTTGGTGGGTGAATTTCGCCAGCAAGCGTGACAGTTGCAGTTCATTTTCATAAGGGAGAAATTTGCTCCCTTCCAGCAGTGGCGAGCAGGGATGGGGGTGGGATCCCGACTATGAAAACCATCCGTGGCCGTGCAGGTGACGAGGCGCATGTAGGGCAGAGGCGGGGCATATGGCAAGTGCGGGGGCCAGGGGGTCTTGTCCAGTCGGGACTCCTGGGTGTTGTGGAGGTGAGTAGATGTTGCCCGTGGCTAAAGGCAGGGCTGTGTGTGTGGCATGAATGAGGCTGCACCAGGCATGCACCAGCTGTTGCTGTCGCCACTCATGCCTGCCCGCTGCTGTGCTCAGTGTATCCACCCCTCTGCCCCAGCACTGCTGTGAGCATTGCCCCGGTCTTGGCTCACCCCTCCTCCTCGCCTCTTGGAAGCATTTGTCCCAGGCCACGGGGGGCAGGGGAGATACTGACCTTCCGTGAAGAGTGCACCTGGGGACAGCAGCTGTGATTTGGAGATTGGAGACCGGGCACCAAAAAAATGCCAGGGCTCAACTACACCTGTTCCCTCTTAACGGGCGTGGATGAGCTCTGAAGTGCATCCCGTCAGTCCCAAGCTAGTGAGGTGGCCTGGGGTGACAGGAGGAAACGCAGTCTTGTTGACTCTGTCTCAGAAGACCATGGTCTTCTTTCAACAACATGGCTGAAAGCCTAAAATGTCCCATCATCGACATCACCCCAGATGGTGTGCACACCCATGAGACAGGGCCCTGTTCCCGGGCTCCAGGGCATGCAGAAGAGGGGCCGGCCAGAGAGCCAGGATGCCTGAGGGTAGCCAGTGCTGGCCCGTCCACCAATGGGTACGCGTACCTCCTGAGCGCGGGCAGCCCCTCGGCACCATGGATACAGCTGTGAGCGGACACACCGGGACCCTGCTCTCCTGGAGCCTCCCTGGGGTGGGGGAGATCAGCAGCAGACACTCACACACACGGGAAACTGCAGCGGTCGCTGAAATACCGCATGACTAAGGACCCGTCGGGGCCTGGGACTTGGGGATGAAAGTCATCTCCCCCTTTGCAGCCCATGTTCATGTTTGCAGGGGAAGAGGCTGAGATTGTAGATGCAAAGTGGGGGCCTATGGGGAGAGGGCTGGCCGATGGGGTTCAGGGTGCATAGATGCTGTGTGAAACGTGGTCCAAGGCGGGGCGGCCATCACTTGGTGGACACCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGC	A	G134753714C	COL5A1	NM_000093.5(COL5A1):c.1720-136_1929del	noncoding	Pathogenic
9	134753852	TC	T	C134753857T	COL5A1	NM_000093.5(COL5A1):c.1727del:p.Pro576fs	coding	Pathogenic
9	134753857	CT	C	T134753858G	COL5A1	NM_000093.5(COL5A1):c.1728del:p.Ser578fs	coding	Pathogenic
9	134761923	AGGGTGACCCT	A	G134761926T	COL5A1	NC_000009.11:g.137653770_137653779del	noncoding	Pathogenic
9	134763675	C	CT	C134763682T	COL5A1	NM_000093.5(COL5A1):c.1990-12dup	noncoding	Benign
9	134767017	TG	T	G134767019C	COL5A1	NM_000093.5(COL5A1):c.2153del:p.Gly718fs	coding	Pathogenic
9	134773069	C	CTGCCCATGACCGGATCGGG	A134773100G	COL5A1	NM_000093.5(COL5A1):c.2331+247_2331+265dup	noncoding	Benign
9	134774852	GT	G	T134774856A	COL5A1	NM_000093.5(COL5A1):c.2332-3del	noncoding	Benign
9	134779890	AAC	A	C134779892G	COL5A1	NM_000093.5(COL5A1):c.2386-210_2386-209del	noncoding	Benign
9	134784955	G	GGGGGCA	T134784956G	COL5A1	NM_000093.5(COL5A1):c.2485-34_2485-33insGGGGCA	noncoding	Benign
9	134795106	C	CG	C134795112G	COL5A1	NM_000093.5(COL5A1):c.2730dup:p.Gln911fs	coding	Pathogenic
9	134795412	T	TA	G134795428A	COL5A1	NM_000093.5(COL5A1):c.2799+112dup	noncoding	Benign
9	134796934	GCCTGTCCCCTCCAAAACCCA	G	A134796954G	COL5A1	NM_000093.5(COL5A1):c.2898+53_2898+72del	noncoding	Benign
9	134798569	AGAGACAGGTTGGCCTCAGAAAGGCTCCCAAGGGCCGGGCCGGCTTCCGCTGACTCAGAGCCAGGCTGTGAGGCAGGGCCAGGGC	A	G134798570A	COL5A1	NM_000093.5(COL5A1):c.2952+109_2952+192del	noncoding	Benign
9	134801788	GA	G	A134801801T	COL5A1	NM_000093.5(COL5A1):c.2953-153del	noncoding	Benign
9	134801788	G	GA	T134801802A	COL5A1	NM_000093.5(COL5A1):c.2953-153dup	noncoding	Benign
9	134801982	G	GCC	G134801990C	COL5A1	NM_000093.5(COL5A1):c.2987_2988dup:p.Gly997fs	coding	Pathogenic
9	134802932	TG	T	G134802935C	COL5A1	NM_000093.5(COL5A1):c.3054del:p.Pro1020fs	coding	Pathogenic
9	134809266	T	TC	T134809272C	COL5A1	NM_000093.5(COL5A1):c.3455dup:p.Gly1153fs	coding	Pathogenic
9	134810289	A	AG	A134810295G	COL5A1	NM_000093.5(COL5A1):c.3514dup:p.Asp1172fs	coding	Pathogenic
9	134811575	A	AC	T134811581C	COL5A1	NM_000093.5(COL5A1):c.3671dup:p.Gly1225fs	coding	Pathogenic
9	134812692	CCTGGTGCAGTGGGA	C	C134812693G	COL5A1	NM_000093.5(COL5A1):c.3833_3846del:p.Pro1278fs	coding	Pathogenic
9	134812757	GGA	G	A134812759T	COL5A1	NM_000093.5(COL5A1):c.3852+47_3852+48del	noncoding	Benign
9	134812759	A	AGT	C134812774G	COL5A1	NM_000093.5(COL5A1):c.3852+48GT[8]	noncoding	Benign
9	134812766	GTGTGTGTC	G	C134812774G	COL5A1	NM_000093.5(COL5A1):c.3852+62_3852+69del	noncoding	Benign
9	134812770	GTGTC	G	C134812774G	COL5A1	NM_000093.5(COL5A1):c.3852+62_3852+65del	noncoding	Benign
9	134812914	AG	A	G134812917C	COL5A1	NM_000093.5(COL5A1):c.3852+205del	noncoding	Benign
9	134814029	GC	G	C134814035G	COL5A1	NM_000093.5(COL5A1):c.3905del:p.Pro1302fs	coding	Pathogenic
9	134815952	TG	T	G134815954T	COL5A1	NM_000093.5(COL5A1):c.4088del:p.Gly1363fs	coding	Pathogenic
9	134818702	GC	G	C134818707A	COL5A1	NM_000093.5(COL5A1):c.4282del:p.Gln1428fs	coding	Pathogenic
9	134818886	T	TC	G134818893C	COL5A1	NM_000093.5(COL5A1):c.4383dup:p.Gly1462fs	coding	Pathogenic
9	134818892	CG	C	G134818894C	COL5A1	NM_000093.5(COL5A1):c.4385del:p.Gly1462fs	coding	Pathogenic
9	134818894	GC	G	C134818898A	COL5A1	NM_000093.5(COL5A1):c.4389del:p.Met1464fs	coding	Pathogenic
9	134820144	GTCC	G	T134820148G	COL5A1	NM_000093.5(COL5A1):c.4476TCC[1]:p.Pro1494del	coding	Pathogenic
9	134822145	C	CT	G134822147T	COL5A1	NM_000093.5(COL5A1):c.4604dup:p.Pro1536fs	coding	Pathogenic
9	134822718	G	GCC	G134822720C	COL5A1	NM_000093.5(COL5A1):c.4609-279_4609-278insCC	noncoding	Benign
9	134822718	G	GC	G134822720C	COL5A1	NM_000093.5(COL5A1):c.4609-279dup	noncoding	Benign
9	134822728	C	CG	C134822730G	COL5A1	NM_000093.5(COL5A1):c.4609-269dup	noncoding	Benign
9	134824592	TC	T	C134824597A	COL5A1	NM_000093.5(COL5A1):c.4699-3del	noncoding	Benign/Likely_benign
9	134824613	AG	A	G134824615T	COL5A1	NM_000093.5(COL5A1):c.4714del:p.Val1572fs	coding	Pathogenic
9	134824736	TCGGCTCTCTCAACTCTCTG	T	C134824737A	COL5A1	NM_000093.5(COL5A1):c.4836_4854del:p.Phe1612fs	coding	Pathogenic
9	134825862	C	CG	T134825869G	COL5A1	NM_000093.5(COL5A1):c.5031dup:p.Ser1678fs	coding	Pathogenic
9	134825868	G	GT	C134825870T	COL5A1	NM_000093.5(COL5A1):c.5032dup:p.Ser1678fs	coding	Pathogenic
9	134829853	GC	G	C134829860G	COL5A1	NM_000093.5(COL5A1):c.5068-116del	noncoding	Benign
9	134835008	T	TGGTACAGATGACCTTCCTGCGGCTGC	T134835035G	COL5A1	NM_000093.5(COL5A1):c.5175_5200dup:p.Leu1734delinsArgTyrArgTer	coding	Pathogenic
9	134835062	CCT	C	C134835063A	COL5A1	NM_000093.5(COL5A1):c.5229_5230del:p.Tyr1744fs	coding	Pathogenic
9	134835149	AG	A	G134835151A	COL5A1	NM_000093.5(COL5A1):c.5317del:p.Glu1773fs	coding	Pathogenic
9	134835170	A	AC	T134835175C	COL5A1	NM_000093.5(COL5A1):c.5340dup:p.Tyr1781fs	coding	Pathogenic
9	134842196	AC	A	C134842201A	COL5A1	NM_000093.5(COL5A1):c.5415del:p.Val1807fs	coding	Pathogenic
9	135702026	A	ATCCCTGGACCC	G135702029C	KCNT1	Single_allele	noncoding	Benign
9	135702420	A	AC	A135702426C	KCNT1	NM_020822.3(KCNT1):c.110+57dup	noncoding	Benign
9	135755186	GC	G	C135755192T	KCNT1	NM_020822.3(KCNT1):c.540+23del	noncoding	Benign
9	135756967	GTCCCCACCC	G	C135756983G	KCNT1	NM_020822.3(KCNT1):c.600+51_600+59del	noncoding	Benign
9	135759396	AG	A	G135759399A	KCNT1	NM_020822.3(KCNT1):c.855-280del	noncoding	Benign
9	135768422	T	TCCCGCCTTCCATCCTC	T135768455C	KCNT1	NM_020822.3(KCNT1):c.1338-187CCCGCCTTCCATCCTC[3]	noncoding	Benign
9	135768850	G	GCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAA	A135768913C	KCNT1	NM_020822.3(KCNT1):c.1424_1485dup:p.Asn496delinsProGlyProTer	coding	Pathogenic
9	135770283	C	CGCCCTG	A135770294T	KCNT1	NM_020822.3(KCNT1):c.1620-10_1620-5dup	noncoding	Benign/Likely_benign
9	135784482	GCTCCCTCCCTCCCTCCCTCCCTCCCTCC	G	C135784501G	KCNT1	NM_020822.3(KCNT1):c.2944-52CTCC[4]	noncoding	Benign/Likely_benign
9	135784517	CCCTCCCTCCCTG	C	C135784518G	KCNT1	NM_020822.3(KCNT1):c.2944-17_2944-6del	noncoding	Benign
9	135785338	AC	A	C135785342T	KCNT1	NM_020822.3(KCNT1):c.3177+12del	noncoding	Benign
9	135786170	CGCCCTGCCCT	C	T135786185A	KCNT1	NM_020822.3(KCNT1):c.3178-26GCCCT[2]	noncoding	Benign/Likely_benign
9	135791910	A	AC	T135791918C	KCNT1	NM_020822.3(KCNT1):c.3587+36dup	noncoding	Benign
9	136197220	TC	T	C136197223T	LHX3	NM_178138.6(LHX3):c.*104del	noncoding	Benign/Likely_benign
9	136198619	T	TCC	G136198628C	LHX3	NM_178138.6(LHX3):c.775+25_775+26dup	noncoding	Benign
9	136198619	T	TC	G136198628C	LHX3	NM_178138.6(LHX3):c.775+25dup	noncoding	Benign
9	136198621	C	CG	C136198622G	LHX3	NM_178138.6(LHX3):c.775+30_775+31insC	noncoding	Benign
9	136198937	CG	C	G136198939A	LHX3	NM_178138.6(LHX3):c.576del:p.Glu193fs	coding	Pathogenic
9	136200566	AG	A	G136200568T	LHX3	NM_178138.6(LHX3):c.251+15del	noncoding	Benign/Likely_benign
9	136370888	C	CA	C136370890A	CARD9	NM_052813.5(CARD9):c.579dup:p.Glu194Ter	coding	Pathogenic
9	136430061	GCCC	G	C136430065A	INPP5E	NM_019892.6(INPP5E):c.1802+213_1802+215del	noncoding	Benign
9	136431806	GC	G	C136431813A	INPP5E	NM_019892.6(INPP5E):c.1549+17del	noncoding	Benign/Likely_benign
9	136432978	GAGGA	G	G136432985T	INPP5E	NM_019892.6(INPP5E):c.1253_1256del:p.Phe418fs	coding	Pathogenic
9	136433083	AG	A	G136433087C	INPP5E	NM_019892.6(INPP5E):c.1160-9del	noncoding	Benign
9	136433121	T	TTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCC	T136433156C	INPP5E	NM_019892.6(INPP5E):c.1159+33_1159+34insGGTGGGCGCGGCTGGAGGGGTGGGCGCGGCTGGAGG	noncoding	Benign
9	136438946	AC	A	C136438952G	INPP5E	NM_019892.6(INPP5E):c.473del:p.Gly158fs	coding	Pathogenic/Likely_pathogenic
9	136439253	GC	G	C136439255G	INPP5E	NM_019892.6(INPP5E):c.166del:p.Ala56fs	coding	Pathogenic
9	136439403	TCC	T	C136439404G	INPP5E	NM_019892.6(INPP5E):c.15_16del:p.Asn7fs	coding	Pathogenic
9	136497109	CAGGT	C	G136497112C	NOTCH1	NM_017617.5(NOTCH1):c.6626_6629del:p.Tyr2209fs	coding	Pathogenic
9	136501439	C	CA	G136501450A	NOTCH1	NM_017617.5(NOTCH1):c.5638+299dup	noncoding	Benign
9	136507392	C	CG	T136507394G	NOTCH1	NM_017617.5(NOTCH1):c.3555dup:p.Glu1186fs	coding	Pathogenic
9	136508788	T	TG	T136508793G	NOTCH1	NM_017617.5(NOTCH1):c.3171+78dup	noncoding	Benign
9	136509077	AG	A	G136509082T	NOTCH1	NM_017617.5(NOTCH1):c.2970-7del	noncoding	Benign
9	136510510	TC	T	C136510515A	NOTCH1	NM_017617.5(NOTCH1):c.2740+142del	noncoding	Benign
9	136515290	C	CTG	A136515296G	NOTCH1	NM_017617.5(NOTCH1):c.2012_2013dup:p.Gly672fs	coding	Pathogenic
9	136515584	T	TCG	A136515588G	NOTCH1	NM_017617.5(NOTCH1):c.1800_1801dup:p.Glu601fs	coding	Pathogenic
9	136515598	CGTGT	C	G136515599A	NOTCH1	NM_017617.5(NOTCH1):c.1784_1787del:p.Tyr595fs	coding	Pathogenic
9	136515848	TGGGGCTGA	T	G136515850C	NOTCH1	NM_017617.5(NOTCH1):c.1669+125_1669+132del	noncoding	Benign
9	136518274	TTG	GT	T136518274G	NOTCH1	NM_017617.5(NOTCH1):c.1116_1118delinsAC:p.Asn373fs	coding	Pathogenic
9	136519534	GATATTTTCCTC	G	T136519536C	NOTCH1	NM_017617.5(NOTCH1):c.763_773del:p.Glu255fs	coding	Pathogenic
9	136519576	AG	A	G136519580C	NOTCH1	NM_017617.5(NOTCH1):c.743-12del	coding	Benign
9	136523163	CG	C	G136523166T	NOTCH1	NM_017617.5(NOTCH1):c.428del:p.Pro143fs	coding	Pathogenic
9	136545988	GCCCGCGCCCGCGC	G	G136545998C	NOTCH1	NM_017617.5(NOTCH1):c.-215_-203del	noncoding	Benign
9	136673534	T	TCGAGCC	G136673543A	AGPAT2	NM_006412.4(AGPAT2):c.*212_*217dup	noncoding	Benign/Likely_benign
9	136677080	AGAGC	A	G136677081A	AGPAT2	NM_006412.4(AGPAT2):c.369_372del:p.Leu124fs	coding	Pathogenic
9	136677117	CG	C	G136677119A	AGPAT2	NM_006412.4(AGPAT2):c.335del:p.Pro112fs	coding	Pathogenic
9	136687199	GC	G	C136687201G	AGPAT2	NM_006412.4(AGPAT2):c.158del:p.Gly53fs	coding	Pathogenic
9	137022019	A	ATGGCTCAGATGGGGGTG	T137022034G	ABCA2	NM_001606.5(ABCA2):c.568-19_568-18insCCCCATCTGAGCCACAC	noncoding	Benign
9	137090464	AGGATCTCAGCAAGAGGGGCATTGGGGCATTGGCCCCCATGAGCTTGGGCCACCCTCAGACTGCCGTGGGGGTGTTTTGATTTTTTTTTTTTTCGAGGCGGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGACACCACGCACAGCTAACGTTTGTATTTTTAATAGAGACGTGTTTCACTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCTTGATCTGCCCACCTCAGCCCCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCGGCCCTTTGATTTCTTTAACAAGAAAATGTGTCCTTTTAAAATTTCTATAAGCTCAATAGAGAGGGGATGGACAGTACCAAAAAGCAGAAGGAAGCAAACCCACATTCTCCTTTCAAAGGCAGCATTCCTGTCGCTGAGCAGCTTCTCCAAGGGTGGTCTAGCCGGGCAGAGGGTGTAGGGTGGGAATTGGCCCCTAGAAGGTGCCGTGCCTGATGGGAGAGTCCTGCTCTTGATTGGCCATGGGGCCACTGCTCCACACTCTTCGGTGTGAGGATTTCTGCCTTTGACCAAGGTCTTTGTCTACAAATTGAATTTTCCTGACTGGAAAGCCGACAGGTGCTTCCTTTCCTTCTTTGGTCCTTCGTCTCCTTTGCATATGGAGTATCGTAACTGCCTGAGAGCAGACTGTGGTATTTTTTCCATTGAAAGATGTGTTTCCACCACTCACAAGTGACCCATAAGCCAGCACCTAGTGTCCAGGAGCAGCTGGGGTGGTGGATGGTGAATATTTCTGTCTTTCTCAAGCATTGACTTGGAGACATCCTGCCCTCCAGGGATCACTTGCACTGCCTCTCCTGTTCAGACCCTGGCACTTGTCTAGACCTGGTTAGGGATGAGGCTGTGTTTAGGCCAGATCCCTTTCTGTTAACGTTTTACTTTGGTTGAGTTCAAATTTTTTTGTTTTATATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTCCTCTGTTTCCCAGGCTGCAGTGCAGTAGCGCAATCTCAGGTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTTGGCCTCCTGAGTAGCTAGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCACCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTAAAATTATTTAATAGAGATGAGGTCTCACTATGTTGCCCAGACTGGTCTCCAACTCCTGAGCTGAAGTGATCCTCCTGCCTCAGTCTCCTGAAATGCTGGGATCACAGGCATAAGACACCACACCTGTCTGATTTCAAATGTTATAGGGGCTTAGGAGAGAAAATGGGAACATTGAGAAGGTATAAAGGGGAATACACAGCCACACATTACCCCTGTTCCCAGTCCAACTCTTGAAACACTTGGTATATGTCTTTCAATTTATGTGGCTGGGTATGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCAAGGCAGGCAGATTGCTTACGCCCAGTCTGGGTAACACGGTGAGACCACCATCTCTACCAAAAAAAAAAAAAATTAGCCAGGCACGACATGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATCGCTTAAGCCAGGGAGGTTGAGGCTACAGTGAGCTATGATCCAGCCTGGATGACAGGGAGACCCTGTCTCAAAAAATAATAATAATAATTTTATTTGGATAAACACATGTATACATCATTGAGGGTTAGGGGCTGGATTGGTATTTGGATACACACGTGTGTACGTAATTGAGGGTTAGGGGCTGGATTGGTCCCTGTTTCTTTTTTTATGCACATGAGAATATTCCCTTTCATACAGATTTTTATAGCTCTTCTCCATTGCTTGGATAAACCATCATTTTCTAAATCATTTATCTGTTGATTCTTTCTTCATTTGTAAATGTCCCCATTACATCCGTTGTACGTAAACTATTAAGAGTTAAAGGTTGTGAAGATTTTGATGTCCTATGACGTGTATCATGACAAACTATTCCCGAATTTGCTTCCCCTGCTACGGTGCTGAGAGTAGCAGTCAGTGGTGCCATGGCAGCACTGGGCATTCTCGTGTCGGCAATGTTTCCAATGCAACAGTCAGAAACTGGCGCCTGCTTTTCGTGGATGCTTGTGTGTCTTGCCTAGAAGCAGGGACACTTACAGGAGGGGAGAGGTGATGAACGGCCCTATGTGCTCCCATCCCGGAAGCTGTCCGTGTCCTTTGATGAGTCTTAGGACTTTTATATTTTCCTTTATTATTGGTATTCCCTTTATTATTAGTATGACTGTTGTGAGTTAGAATATTTCATCCTTTACCAAGTATGCTTCTTATGACTTCATCCGGCTTAGAAATTAGTTTTAGAGAACTTTGCTATATAGTAGCAGTAATCAATTAGAAAATGTTATTGAAAAGAGATCTCAGGAGGTTGCAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACACAAATTAGCCAGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCAGCAGGCTGAGGCCTGAACTGGGAGGTGGAGGCTGCAGCAAGCGGAGTTCGCACCACTGCATTCCAGCCTGGGTGATAGTGAGACTCAGTCTCGAAAAAGAAAAGAAAAGTGATCTCCATCACAATCACAAGAAAAGAATGCCACCAAGTCCGTAGGAGTAATCCTGATACTAAAATATATAAAGTCAGTATAAATAAAAGTACAACACTCAAGGTATTTGAAAAGACCTAAATAAGTAGACATTTTATTCTTCTGCTGTGAAGATTTAAGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAAGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGCGTGGTGGCAGGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAGAGAAAAGATTTAAGTTCTCCCTAAATTCATCTGTAAATCCATTGACTCCCTATCAAAATTCCAACCTCTGTTTTTAAAGATGATTTTAAAATTCATATGGAAAGAAAATTTGGGAGTAAAACTCAGATGAACTTCCCTACAAGATCATAAAACTGTGATCATTGAACCCATGGTGATTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCCACTCACTGCAACCTCCACGTCTCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGATGTGCCACCACGCCCGGCTAACTTTTTGATTTTTTGTAGAGGTGGGGTCTCACTTTGTTACCCAGGCTGGTCTGGAACTCCTGGGCTCAGGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTGAGCCACTGCACCTGACCCTCGTAACGGTGATTTTTAAGACTAGGTGATCTTAGTGACATAATTCTAATAGTTTGTTCCGACCTTCCACTGTGGACTCAATAGCAGGGAGATGAAGAGGACAGTGATTGCATGACCTGGTGGAGAAGAGACTAGAGAAACACAGTGGAACTAGTGGCTCACATCTGTCATCCCAGCACTTTGAGAGGCCGAGGCAGGCAGATTGCTTGAATGCAGGAGTTCGAGACCAGCCTGAGCAACATAGTGAGACCCCATCTCTATTAAAAAAAAAAACAGGCTGGGGCCAGGCATAGTGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCTGAGACGGGTGGATTGCTTGAGACCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAACAATACAAAAAATTAACCTGGAGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCTGCCTGGGCAACAAGAGTAAAACTCTGTCTCAAAAAACAAACAAACAAAAAAAACAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGGTAAAACCCCATTTCTACTAAAGATACAAAAATTAGCCAGGTGTGGTGACACGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCGGCCTGGGTGACAAAACAAGACTCTGACTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTGTTCGTAATTTTAGTAGAGATGGTGTTTCACCATGTTGCCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGTGCCCAGCCATAAGTAAGCATTCTTTCCTTTTTTAAAAAAAAAAAAAGTGGAGCAATCTAAATATCCATCAGTAAAGAAGTACAAAATTATGGCTTGTGCCGGGCATGTTGGCTGCAACCTGTCATCCCAGCACTTTGGGAAGCCAAGGCAGGAGGAATTCGTGAGGCCAGGAGTTTAAGACCAGCCTGGGCAACATAAGGAGACCCTGTCTCTATAGTAATAATAATAATAAAAATTAAGGTTTGGTAATACCACAGAAAACTGAGGCCATAGGAGAGAATGGATTTGCCTCTAGACTCACGTAGGAGGACCTAAGCCTCAGTCCGTGACACGGTCTGCAGCTTTCCCACGCTCCTGTTCACGTGGGGAAGGGAGCAGAGGACGGGGCTCTGTGCCTGCAGGTGTGGAAACAGGGAACAGGGTGGTGGGGGCTGGCTAGAAGGCCCGCATCACACAGCAGGGGGCGCCTGGCAAGGGGAACCCAGCTCCATATGTCATCGGAAGCTTTGTGCTTTGTAGTGAGGATGTGGGTGCCTGCCTCACTTTGCAGATGACTGTGCGGGAGGCCTGGGGACCCAGAGGTGTTGCTGGAGCTGGTGTTTACTGCAGCCCTTTGTTATTAACGCTTTAGGACCTGTGAGAGTTTGGAAATATTCCCACCGTGGGAGGGGCTTAAGCGTTTTGTCTGGGGCCGTTTAGCCAGTCGGCAGTGTCCCCAGGCTCCTAAGGAGCTGTCTTCTGAAGCTGCCTGTCGTATTGAAAAACGAAAGTAATTTAGTCAGAGGTCAGAAGCTCAGTCTGTGAGGTGTGGGCTGCACCTGAGGGCGTCCCATAGAGGGAAAGAAGGGCAGCTCGCAGACACCCCGTGATTTCCTGTGTGACCAATTTCTCTACAGAAGACACAAAGACACATCCAGCGGGGACCACCTCACCTGCAGATTAGACCCCCAAGCCAAGACCTGAAGGATGGGACCCAGGAGGAGGCCACAAAAAGGCAAGAAGCCCCTGTGGATCCCCGCCCGGAAGGAGATCCGCAGAGGACAGTCATCAGGTACAGAGCGCAGGGCAGGCTGCACGCCGCCGCTCAGGGCTTGATGTTCCGAAAAACAAGATTGCGGAAACGCATTGTGTCTGAGATCTATTTTCCTTTGAAACTGACAGTGTATGCTCTGTAATCTGTCCTCATTAACCTTAGATTACAGAATCGAATTTTTAAAACTGGAGGTCAGAGCTAAATTAGGTCCCCGATAATGTCCTCATGGTATGCAGTAACATTTCAGAATGTTTTGTGTGCGTGTGAAGGGTGCACAGGTGCGTGGGGATGGGGAGCCAGGCTCAGAGGTGGACGCTGGCTGCCTGGGCCACCTCCTTTCCCGAGCCCCATCTGGTCGAGCAGAGAGCAGAGGGAGAGGGAGTTGCCCGGTGCCCAGGCTCCCAGAGTGCTGTCCTCTGCCCGGTTCGTCAAGTCCAGGTAGTGGATCCCAGTGGAGCTTCGGTGCTGGAGGCGTCTCTGCCTCGTTTCCGGCTCCATGTTACGCTCTTAGAAACGGAGTTGATTGTGGTTGAGGCGGAAGGAAG	A	A137090467T	MAN1B1	NM_016219.5(MAN1B1):c.465+1462_620+529del	noncoding	Pathogenic
9	137100909	C	CA	C137100911A	MAN1B1	NM_016219.5(MAN1B1):c.917-95dup	noncoding	Benign
9	137106889	G	GAAC	G137106893A	MAN1B1	NM_016219.5(MAN1B1):c.1566+81_1566+83dup	noncoding	Benign
9	137142459	TCACACATCACA	T	A137142474T	GRIN1	NM_007327.4(GRIN1):c.393+327_393+337del	noncoding	Benign
9	137161046	TC	T	C137161053A	GRIN1	NM_007327.4(GRIN1):c.1198-3del	noncoding	Benign/Likely_benign
9	137161271	C	CGTA	C137161272G	GRIN1	NM_007327.4(GRIN1):c.1340-18_1340-17insGTA	noncoding	Benign/Likely_benign
9	137161272	C	GTAA	C137161272G	GRIN1	NM_007327.4(GRIN1):c.1340-17delinsGTAA	noncoding	Benign
9	137162100	CCGGGTGG	C	T137162105G	GRIN1	NM_007327.4(GRIN1):c.1632+17_1632+23del	noncoding	Benign
9	137162572	GC	G	C137162578G	GRIN1	NM_007327.4(GRIN1):c.1865-13del	noncoding	Benign
9	137199309	T	TG	C137199316G	TPRN	NM_001128228.3(TPRN):c.1402dup:p.Gln468fs	coding	Pathogenic/Likely_pathogenic
9	137199670	T	TC	T137199675C	TPRN	NM_001128228.3(TPRN):c.1041dup:p.Arg348fs	coding	Pathogenic
9	137232988	GC	G	C137232995A	SLC34A3	NM_001177316.2(SLC34A3):c.449-9del	noncoding	Benign
9	137233318	CT	C	T137233319G	SLC34A3	NM_001177316.2(SLC34A3):c.671del:p.Leu224fs	coding	Pathogenic
9	137233380	GC	G	C137233382G	SLC34A3	NM_001177316.2(SLC34A3):c.734del:p.Pro245fs	coding	Pathogenic
9	137233420	G	GC	G137233426C	SLC34A3	NM_001177316.2(SLC34A3):c.756+21dup	noncoding	Benign
9	137234189	T	TGC	G137234193C	SLC34A3	NM_001177316.2(SLC34A3):c.1008_1009dup:p.Gly337fs	coding	Pathogenic
9	137234226	CTG	C	T137234229C	SLC34A3	NM_001177316.2(SLC34A3):c.1046_1047del:p.Val349fs	coding	Pathogenic
9	137234641	CCT	C	C137234644T	SLC34A3	NM_001177316.2(SLC34A3):c.1248_1249del:p.Leu417fs	coding	Pathogenic/Likely_pathogenic
9	137234699	AG	A	G137234700C	SLC34A3	NM_001177316.2(SLC34A3):c.1304del:p.Ser435fs	coding	Pathogenic/Likely_pathogenic
9	137235940	CCTCGCCCCCAG	C	C137235941G	SLC34A3	NM_001177316.2(SLC34A3):c.1336-11_1336-1del	noncoding	Pathogenic
9	137236173	T	TC	T137236178C	SLC34A3	NM_001177316.2(SLC34A3):c.1561dup:p.Leu521fs	coding	Pathogenic/Likely_pathogenic
9	137236183	GGGCTGGTGCTCCTCGTCATCCTGGTTACTGTCCTGCAGCGGCGCCGGCCGGCCTGGCTGCCTGTCCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCTGGCTCCATTCTCTGGAGCCCTGGGACCGCCTGGTGACCCGCTGCTGCCCCTGCAACGTCTGCAGCCCCCCGAAGGCCACCACCAAAGAGGCCTACTGCTACGAGAACCCTGAGATCTTGGCCTCCCAGCAGTTGTGACGGGCAGTTGCTGAGCAGACCGCCCCACCCTCCCCGGCTGGGAGGGCTCTGGAGGGCCCTGGAGGGGGGGTCCCCGC	G	T137236187A	SLC34A3	NM_001177316.2(SLC34A3):c.1571_*80del:p.Leu524fs	coding	Pathogenic
9	137236199	TCA	T	C137236200T	SLC34A3	NM_001177316.2(SLC34A3):c.1584_1585del:p.Ile529fs	coding	Pathogenic
9	137452600	CAGGCCACA	C	A137452609T	NSMF	NM_001130969.3(NSMF):c.1132-22_1132-15del	noncoding	Benign
9	137456205	TGTG	T	T137456207G	NSMF	NM_001130969.3(NSMF):c.704+203_704+205del	noncoding	Benign
9	137456207	TG	T	G137456218C	NSMF	NM_001130969.3(NSMF):c.704+203del	noncoding	Benign
9	137456207	T	TG	C137456219G	NSMF	NM_001130969.3(NSMF):c.704+193dup	noncoding	Benign
9	137710979	AG	A	G137710985A	EHMT1	NM_024757.5(EHMT1):c.40del:p.Glu14fs	coding	Pathogenic
9	137716700	AC	A	C137716702A	EHMT1	NM_024757.5(EHMT1):c.162del:p.Asn55fs	coding	Pathogenic
9	137716830	CAGAA	C	A137716834G	EHMT1	NM_024757.5(EHMT1):c.294_297del:p.Arg99fs	coding	Pathogenic
9	137717112	TCCCGGCC	T	C137717115T	EHMT1	NM_024757.5(EHMT1):c.575_581del:p.Pro192fs	coding	Pathogenic
9	137728455	TA	G	T137728455G	EHMT1	NM_024757.5(EHMT1):c.749_750delinsG:p.Leu250fs	coding	Pathogenic
9	137743352	CT	C	T137743368A	EHMT1	NM_024757.5(EHMT1):c.824-3del	noncoding	Benign/Likely_benign
9	137743352	CTT	C	T137743367A	EHMT1	NM_024757.5(EHMT1):c.824-4_824-3del	noncoding	Benign
9	137754206	GAGGAA	G	G137754214A	EHMT1	NM_024757.5(EHMT1):c.1292_1296del:p.Gly431fs	coding	Pathogenic
9	137757741	TG	T	G137757744T	EHMT1	NM_024757.5(EHMT1):c.1370-136del	noncoding	Benign
9	137758010	AG	A	G137758012T	EHMT1	NM_024757.5(EHMT1):c.1501+1del	coding	Pathogenic
9	137762769	CA	C	A137762770C	EHMT1	NM_024757.5(EHMT1):c.1597del:p.Thr533fs	coding	Pathogenic
9	137778022	TG	T	G137778024A	EHMT1	NM_024757.5(EHMT1):c.2161del:p.Glu721fs	coding	Pathogenic
9	137790948	CTGGGG	GA	C137790948G	EHMT1	NM_024757.5(EHMT1):c.2483_2488delinsGA:p.Ala828fs	coding	Pathogenic
9	137790962	GA	G	A137790963T	EHMT1	NM_024757.5(EHMT1):c.2498del:p.Asp833fs	coding	Pathogenic
9	137799088	A	AGCGTCCCCTCCCACACAGAGCCAGCTCGGGCCCTCCACG	A137799096C	EHMT1	NM_024757.5(EHMT1):c.2607+181_2607+182insCTCCCACACAGAGCCAGCTCGGGCCCTCCACGGCGTCCC	noncoding	Benign
9	137800536	CGT	C	T137800544C	EHMT1	NM_024757.5(EHMT1):c.2608-343GT[3]	noncoding	Benign
9	137800896	CA	C	A137800897C	EHMT1	NM_024757.5(EHMT1):c.2625del:p.Pro876_Met877insTer	coding	Pathogenic
9	137811546	AC	A	C137811547G	EHMT1	NM_024757.5(EHMT1):c.2799del:p.His933fs	coding	Pathogenic
9	137811571	G	GC	A137811574C	EHMT1	NM_024757.5(EHMT1):c.2825dup:p.Leu943fs	coding	Pathogenic
9	137813133	GC	G	C137813138G	EHMT1	NM_024757.5(EHMT1):c.3000del:p.Asp1001fs	coding	Pathogenic
9	137813148	AGCCCC	A	C137813150T	EHMT1	NM_024757.5(EHMT1):c.3012_3016del:p.Pro1005fs	coding	Pathogenic
9	137818118	CTCTTTGA	C	T137818122C	EHMT1	NM_024757.5(EHMT1):c.3524_3530del:p.Phe1175fs	coding	Pathogenic
9	137834384	CG	C	G137834387A	EHMT1	NM_024757.5(EHMT1):c.3579del:p.Asn1194fs	coding	Pathogenic
9	137878224	TGCCGGGCGGG	T	C137878246A	CACNA1B	NM_000718.4(CACNA1B):c.284+8GCCGGGCGGG[2]	noncoding	Benign
9	137956653	C	CA	G137956671A	CACNA1B	NM_000718.4(CACNA1B):c.1187-101dup	noncoding	Benign
9	138013249	GA	G	A138013250G	CACNA1B	NM_000718.4(CACNA1B):c.2267+15del	noncoding	Benign/Likely_benign
9	138022805	TGGGG	T	G138022814C	CACNA1B	NM_000718.4(CACNA1B):c.2268-197_2268-194del	noncoding	Benign
9	138022805	TGG	T	G138022816C	CACNA1B	NM_000718.4(CACNA1B):c.2268-195_2268-194del	noncoding	Benign
9	138022805	T	TG	C138022818G	CACNA1B	NM_000718.4(CACNA1B):c.2268-194dup	noncoding	Benign
9	138022805	T	TGG	C138022818G	CACNA1B	NM_000718.4(CACNA1B):c.2268-195_2268-194dup	noncoding	Benign
9	138023729	ACCACGGAGAAGGAGG	A	C138023746T	CACNA1B	NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1]:p.997TEKEA[1]	coding	Benign/Likely_benign
9	138043986	G	GA	T138043988A	CACNA1B	NM_000718.4(CACNA1B):c.3413+87dup	noncoding	Benign
9	138052249	C	CGTGTGTGCGTGTGTGT	T138052257C	CACNA1B	NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTGTGTGTG	noncoding	Benign
9	138052249	C	CGTGTGTGCGTGTGT	T138052257C	CACNA1B	NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTGTGTG	noncoding	Benign
9	138102897	AG	A	G138102900T	CACNA1B	NM_000718.4(CACNA1B):c.5319+93del	noncoding	Benign
9	138112124	T	TGCATGCACACACATGC	G138112137A	CACNA1B	NM_000718.4(CACNA1B):c.5429-262_5429-261insATGCGCATGCACACAC	noncoding	Benign
9	138117924	CTGTT	C	T138117928C	CACNA1B	NM_000718.4(CACNA1B):c.5778-18_5778-15del	noncoding	Benign
9	138118090	T	TC	G138118094C	CACNA1B	NM_000718.4(CACNA1B):c.5913+12dup	noncoding	Benign
9	138121417	C	CT	A138121436T	CACNA1B	NM_000718.4(CACNA1B):c.6490-34dup	noncoding	Benign
9	138121417	CT	C	T138121435A	CACNA1B	NM_000718.4(CACNA1B):c.6490-34del	noncoding	Benign
10	239539	G	GTGT	T239541G	ZMYND11	NM_001370100.5(ZMYND11):c.697+15_697+16insGTT	noncoding	Benign
10	239539	G	GTGTT	T239541G	ZMYND11	NM_001370100.5(ZMYND11):c.697+15_697+16insGTTT	noncoding	Benign
10	239539	G	GTGTTT	T239541G	ZMYND11	NM_001370100.5(ZMYND11):c.697+15_697+16insGTTTT	noncoding	Benign
10	240101	CAT	C	A240102G	ZMYND11	NM_001370100.5(ZMYND11):c.744_745del:p.Cys249fs	coding	Pathogenic
10	246943	AT	A	T246944C	ZMYND11	NM_001370100.5(ZMYND11):c.1129del:p.Ser377fs	coding	Pathogenic
10	248431	GAAGTT	G	T248436G	ZMYND11	NM_001370100.5(ZMYND11):c.1328_1332del:p.Leu443fs	coding	Pathogenic
10	248924	GAA	G	A248927G	ZMYND11	NM_001370100.5(ZMYND11):c.1525_1526del:p.Lys509fs	coding	Pathogenic
10	248973	T	TG	A248976G	ZMYND11	NM_001370100.5(ZMYND11):c.1573dup:p.Asp525fs	coding	Pathogenic
10	252452	CT	C	T252453G	ZMYND11	NM_001370100.5(ZMYND11):c.1792del:p.Cys598fs	coding	Pathogenic
10	283251	GC	G	C283253G	DIP2C	NM_014974.3(DIP2C):c.4294+20del	noncoding	Benign
10	310107	AG	A	G310108A	DIP2C	NM_014974.3(DIP2C):c.3925-16del	noncoding	Benign
10	3147249	A	AC	T3147252C	PITRM1	NM_014889.4(PITRM1):c.2236-1dup	coding	Pathogenic
10	3166391	A	AGAGCAATGGCACGCTAGGGAAGGT	A3166394G	PITRM1	NM_014889.4(PITRM1):c.267-12_267-11insTCACCTTCCCTAGCGTGCCATTGC	noncoding	Benign
10	4830459	GT	G	T4830468C	AKR1E2	NM_001040177.3(AKR1E2):c.40-207del	noncoding	Benign
10	4835622	T	TTTTTG	C4835647G	AKR1E2	NM_001040177.3(AKR1E2):c.325-52TTTTG[5]	noncoding	Benign
10	4839453	TTATC	T	A4839455G	AKR1E2	NM_001040177.3(AKR1E2):c.583-274_583-271del	noncoding	Benign
10	4842652	T	TC	T4842656C	AKR1E2	NM_001040177.3(AKR1E2):c.837+151dup	noncoding	Benign
10	4847534	C	CA	G4847535A	AKR1E2	NM_001040177.3(AKR1E2):c.*4_*5insA	noncoding	Benign
10	4990047	A	AG	A4990049G	AKR1C2	NM_001393392.1(AKR1C2):c.930-10dup	noncoding	Benign
10	4995242	TC	T	C4995244T	AKR1C2	NM_001393392.1(AKR1C2):c.846+76del	noncoding	Benign
10	4999379	GT	G	T4999380G	AKR1C2	NM_001393392.1(AKR1C2):c.370-103del	noncoding	Benign
10	8058165	ATG	A	T8058166A	GATA3	NM_001002295.2(GATA3):c.242-139_242-138del	noncoding	Benign
10	8058168	A	ATT	G8058169T	GATA3	NM_001002295.2(GATA3):c.242-137_242-136insTT	noncoding	Benign
10	8058412	TTC	T	T8058415C	GATA3	NM_001002295.2(GATA3):c.352_353del:p.Ser118fs	coding	Pathogenic
10	8058439	TCCCCGGGG	T	G8058444T	GATA3	NM_001002295.2(GATA3):c.381_388del:p.Gly128fs	coding	Pathogenic
10	8058451	CT	C	T8058452C	GATA3	NM_001002295.2(GATA3):c.389del:p.Leu130fs	coding	Pathogenic
10	8058461	AC	A	C8058467G	GATA3	NM_001002295.2(GATA3):c.404del:p.Pro135fs	coding	Pathogenic
10	8058513	CTTCA	C	T8058514C	GATA3	NM_001002295.2(GATA3):c.451_454del:p.Phe151fs	coding	Pathogenic
10	8058526	CCCACCCCGCCGAAGGACGTCTCCCCGGACCCATCGCTGTCCACCCCAGG	C	C8058528T	GATA3	NM_001002295.2(GATA3):c.465_513del:p.Thr156fs	coding	Pathogenic
10	8058836	G	GC	A8058838C	GATA3	NM_001002295.2(GATA3):c.774dup:p.Thr259fs	coding	Pathogenic
10	8064048	TG	T	G8064050C	GATA3	NM_001002295.2(GATA3):c.836del:p.Gly279fs	coding	Pathogenic
10	8064115	C	AACCCT	C8064115A	GATA3	NM_001002295.2(GATA3):c.901delinsAACCCT:p.Leu301fs	coding	Pathogenic
10	8064268	G	GTT	C8064282T	GATA3	NM_001002295.2(GATA3):c.924+142_924+143dup	noncoding	Benign
10	8064268	GT	G	T8064281C	GATA3	NM_001002295.2(GATA3):c.924+143del	noncoding	Benign
10	8064285	TTTTC	T	C8064297T	GATA3	NM_001002295.2(GATA3):c.924+148TTTC[2]	noncoding	Benign
10	8064308	CTTCTT	C	C8064311T	GATA3	NM_001002295.2(GATA3):c.924+173_924+177del	noncoding	Benign
10	8064310	TC	T	C8064311T	GATA3	NM_001002295.2(GATA3):c.924+173del	noncoding	Benign
10	8069382	CT	C	T8069395C	GATA3	NM_001002295.2(GATA3):c.925-78del	noncoding	Benign
10	8069469	TCA	T	C8069470G	GATA3	NM_001002295.2(GATA3):c.925-3_925-2del	noncoding	Pathogenic
10	8069492	GGACGTCCTGTGC	G	C8069495A	GATA3	NM_001002295.2(GATA3):c.947_958del:p.Thr316_Ala319del	coding	Pathogenic
10	8069497	TC	T	C8069499T	GATA3	NM_001002295.2(GATA3):c.951del:p.Cys318fs	coding	Pathogenic
10	8069887	GA	G	A8069899T	GATA3	NM_001002295.2(GATA3):c.1050+301del	noncoding	Benign
10	8069887	G	GA	T8069900A	GATA3	NM_001002295.2(GATA3):c.1050+301dup	noncoding	Benign
10	8073888	CAT	C	A8073889G	GATA3	NM_001002295.2(GATA3):c.1201_1202del:p.Met401fs	coding	Pathogenic/Likely_pathogenic
10	11325893	AC	A	C11325894A	CELF2	NM_001326342.2(CELF2):c.1353del:p.Asp451fs	coding	Pathogenic
10	11329048	T	TA	C11329050A	CELF2	NM_001326342.2(CELF2):c.1562dup:p.Tyr521Ter	coding	Pathogenic
10	11967383	CTTAG	C	A11967390C	UPF2	NM_015542.4(UPF2):c.2021_2024del:p.Thr674fs	coding	Pathogenic
10	12081502	T	TA	T12081504A	DHTKD1	NM_018706.7(DHTKD1):c.186dup:p.Tyr63fs	coding	Pathogenic
10	12097732	CG	C	G12097734A	DHTKD1	NM_018706.7(DHTKD1):c.1409del:p.Gly470fs	coding	Pathogenic/Likely_pathogenic
10	12100274	C	CT	C12100285T	DHTKD1	NM_018706.7(DHTKD1):c.1756+22dup	noncoding	Benign
10	12100274	CT	C	T12100284C	DHTKD1	NM_018706.7(DHTKD1):c.1756+22del	noncoding	Benign
10	12117846	ATCTCCCCTCTCC	A	C12117848A	DHTKD1	NM_018706.7(DHTKD1):c.2402+93_2402+104del	noncoding	Benign
10	12117846	ATCTCCCCTCTCCTATTTTTATT	A	C12117848A	DHTKD1	NM_018706.7(DHTKD1):c.2402+93_2402+114del	noncoding	Benign
10	12117846	ATCTCCCCTCTCCTATTTTTATTTATT	A	C12117848A	DHTKD1	NM_018706.7(DHTKD1):c.2402+93_2402+118del	noncoding	Benign
10	12118803	AAG	A	G12118807A	DHTKD1	NM_018706.7(DHTKD1):c.2461_2462del:p.Glu821fs	coding	Pathogenic
10	13108903	T	TGCGC	T13108909C	OPTN	NM_001008212.2(OPTN):c.-11-208GC[4]	noncoding	Benign
10	13108910	G	GCACACA	T13108926A	OPTN	NM_001008212.2(OPTN):c.-11-201CA[10]	noncoding	Benign
10	13108910	G	GCACA	T13108926A	OPTN	NM_001008212.2(OPTN):c.-11-201CA[9]	noncoding	Benign
10	13109191	A	AC	A13109199C	OPTN	NM_001008212.2(OPTN):c.76dup:p.His26fs	coding	Pathogenic
10	13110504	GT	G	T13110516C	OPTN	NM_001008212.2(OPTN):c.369+40del	noncoding	Benign
10	13122382	CAG	C	A13122385T	OPTN	NC_000010.10:g.13164383_13164384del	noncoding	Pathogenic
10	13124097	AGACTT	A	G13124098C	OPTN	NM_001008212.2(OPTN):c.986_990del:p.Arg329fs	coding	Pathogenic
10	13126035	AAG	A	A13126038G	OPTN	NM_001008212.2(OPTN):c.1241_1242del:p.Glu414fs	coding	Pathogenic
10	13127819	CA	C	A13127822C	OPTN	NM_001008212.2(OPTN):c.1320del:p.Lys440fs	coding	Pathogenic
10	13171148	TG	T	G13171150A	MCM10	NM_018518.5(MCM10):c.236del:p.Gly79fs	coding	Pathogenic
10	13278111	G	GT	C13278122T	PHYH	NM_006214.4(PHYH):c.*189dup	noncoding	Benign
10	13281399	G	GT	A13281414T	PHYH	NM_006214.4(PHYH):c.829-303dup	noncoding	Benign
10	13281399	G	GTT	A13281414T	PHYH	NM_006214.4(PHYH):c.829-303_829-302dup	noncoding	Benign
10	13281399	GT	G	T13281413A	PHYH	NM_006214.4(PHYH):c.829-290del	noncoding	Benign
10	13283834	T	TC	T13283841C	PHYH	NM_006214.4(PHYH):c.679-1dup	coding	Pathogenic
10	13288461	A	AGGC	C13288466G	PHYH	NM_006214.4(PHYH):c.574_576dup:p.Ala192_Trp193insAla	coding	Pathogenic
10	13291922	CA	C	A13291932C	PHYH	NM_006214.4(PHYH):c.415-11del	noncoding	Benign/Likely_benign
10	13299982	A	AGGGGCGGCCGAGGTGGCCC	A13300002G	PHYH	NM_006214.4(PHYH):c.42_60dup:p.Ser21fs	coding	Pathogenic
10	14908820	TCA	T	C14908821G	DCLRE1C	NM_001033855.3(DCLRE1C):c.1665_1666del:p.Asp556fs	coding	Pathogenic
10	14908854	CTGTTA	C	T14908858G	DCLRE1C	NM_001033855.3(DCLRE1C):c.1628_1632del:p.Ile543fs	coding	Pathogenic
10	14908898	G	GTTGA	C14908905G	DCLRE1C	NM_001033855.3(DCLRE1C):c.1585_1588dup:p.Thr530fs	coding	Pathogenic
10	14908927	CTT	C	T14908929G	DCLRE1C	NM_001033855.3(DCLRE1C):c.1558_1559del:p.Lys520fs	coding	Pathogenic
10	14908941	A	AT	C14908943T	DCLRE1C	NM_001033855.3(DCLRE1C):c.1545dup:p.Ser516fs	coding	Pathogenic
10	14908978	ACT	A	T14908982A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1507_1508del:p.Ser503fs	coding	Pathogenic
10	14908983	C	CAT	C14908986A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1502_1503dup:p.Glu502fs	coding	Pathogenic
10	14909044	CT	C	T14909048G	DCLRE1C	NM_001033855.3(DCLRE1C):c.1442del:p.Lys481fs	coding	Pathogenic
10	14909169	ACT	A	C14909172G	DCLRE1C	NM_001033855.3(DCLRE1C):c.1316_1317del:p.Glu439fs	coding	Pathogenic
10	14909169	ACTCTG	A	T14909176A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1313_1317del:p.Ala438fs	coding	Pathogenic
10	14909180	C	CAGCATCCT	G14909189A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1299_1306dup:p.Cys436Ter	coding	Pathogenic
10	14909220	C	CTGATACTG	C14909229T	DCLRE1C	NM_001033855.3(DCLRE1C):c.1259_1266dup:p.Glu423fs	coding	Pathogenic
10	14926910	GA	G	A14926914C	DCLRE1C	NM_001033855.3(DCLRE1C):c.918-14del	noncoding	Benign/Likely_benign
10	14934386	TC	T	C14934388T	DCLRE1C	NM_001033855.3(DCLRE1C):c.671del:p.Gly224fs	coding	Pathogenic
10	14934428	AT	A	T14934429A	DCLRE1C	NM_001033855.3(DCLRE1C):c.629del:p.Tyr210fs	coding	Pathogenic
10	14934728	GG	CA	G14934728C	DCLRE1C	NM_001033855.3(DCLRE1C):c.511_512delinsTG:p.Pro171Ter	coding	Pathogenic
10	14934783	G	GA	T14934792A	DCLRE1C	NM_001033855.3(DCLRE1C):c.465-16dup	noncoding	Benign
10	14936586	TCTTC	T	C14936591T	DCLRE1C	NM_022487.4(DCLRE1C):c.18-1026_18-1023del	coding	Pathogenic
10	15548530	T	TG	C15548532G	ITGA8	NM_003638.3(ITGA8):c.2804dup:p.Val936fs	coding	Pathogenic
10	15604458	CA	C	A15604465G	ITGA8	NM_003638.3(ITGA8):c.1971-104del	noncoding	Benign
10	15604578	CAAA	C	A15604598G	ITGA8	NM_003638.3(ITGA8):c.1971-226_1971-224del	noncoding	Benign
10	15604578	CAA	C	A15604599G	ITGA8	NM_003638.3(ITGA8):c.1971-225_1971-224del	noncoding	Benign
10	15604578	CA	C	A15604600G	ITGA8	NM_003638.3(ITGA8):c.1971-224del	noncoding	Benign
10	15604578	C	CA	G15604601A	ITGA8	NM_003638.3(ITGA8):c.1971-245dup	noncoding	Benign
10	15605478	AT	A	T15605485C	ITGA8	NM_003638.3(ITGA8):c.1970+245del	noncoding	Benign
10	15608402	TAC	T	A15608423C	ITGA8	NM_003638.3(ITGA8):c.1554-134GT[10]	noncoding	Benign
10	15616742	CA	C	A15616744C	ITGA8	NM_003638.3(ITGA8):c.1400-184del	noncoding	Benign
10	15655095	C	CTT	A15655097T	ITGA8	NM_003638.3(ITGA8):c.1001+258_1001+259insAA	noncoding	Benign
10	15659212	TA	T	A15659223G	ITGA8	NM_003638.3(ITGA8):c.892-158del	noncoding	Benign
10	15671879	CA	C	A15671899G	ITGA8	NM_003638.3(ITGA8):c.803-233del	noncoding	Benign
10	15719834	A	AG	C15719841G	ITGA8	NM_003638.3(ITGA8):c.-64dup	noncoding	Benign
10	16829342	GA	G	A16829358C	CUBN	NM_001081.4(CUBN):c.10529-303del	noncoding	Benign
10	16829342	G	GAAAA	C16829359A	CUBN	NM_001081.4(CUBN):c.10529-318_10529-315dup	noncoding	Benign
10	16829342	G	GAAA	C16829359A	CUBN	NM_001081.4(CUBN):c.10529-318_10529-316dup	noncoding	Benign
10	16829342	G	GAA	C16829359A	CUBN	NM_001081.4(CUBN):c.10529-318_10529-317dup	noncoding	Benign
10	16829342	G	GA	C16829359A	CUBN	NM_001081.4(CUBN):c.10529-318dup	noncoding	Benign
10	16829355	A	AC	A16829356C	CUBN	NM_001081.4(CUBN):c.10529-316_10529-315insG	noncoding	Benign
10	16869557	TG	T	G16869567C	CUBN	NM_001081.4(CUBN):c.9454+78del	noncoding	Benign
10	16869557	T	TC	G16869558C	CUBN	NM_001081.4(CUBN):c.9454+78_9454+79insG	noncoding	Benign
10	16869557	T	TG	C16869568G	CUBN	NM_001081.4(CUBN):c.9454+69dup	noncoding	Benign
10	16874608	GTAA	G	A16874613T	CUBN	NM_001081.4(CUBN):c.9107-108_9107-106del	noncoding	Benign
10	16890438	GTTAC	G	A16890441G	CUBN	NM_001081.4(CUBN):c.8684_8687del:p.Ser2895fs	coding	Pathogenic
10	16901408	T	TA	G16901410A	CUBN	NM_001081.4(CUBN):c.8113dup:p.Tyr2705fs	coding	Pathogenic
10	16903906	TG	T	G16903908A	CUBN	NM_001081.4(CUBN):c.8062+59del	noncoding	Benign
10	16913718	AT	A	T16913722C	CUBN	NM_001081.4(CUBN):c.7533+92del	noncoding	Benign
10	16916017	TC	T	C16916022A	CUBN	NM_001081.4(CUBN):c.7013del:p.Gly2338fs	coding	Pathogenic
10	16952002	GTGT	G	T16952009G	CUBN	NM_001081.4(CUBN):c.4969+265ACA[2]	noncoding	Benign
10	16954124	T	TA	C16954129A	CUBN	NM_001081.4(CUBN):c.4855+261dup	noncoding	Benign
10	16982489	TA	AT	T16982489A	CUBN	NM_001081.4(CUBN):c.4689_4690delinsAT:p.Cys1563_Ile1564delinsTer	coding	Pathogenic
10	16984165	TGAATC	T	C16984170T	CUBN	NM_001081.4(CUBN):c.4460_4464del:p.Arg1487fs	coding	Pathogenic/Likely_pathogenic
10	17019835	TA	T	A17019838C	CUBN	NM_001081.4(CUBN):c.4165del:p.Tyr1389fs	coding	Pathogenic/Likely_pathogenic
10	17040750	C	CAA	T17040757A	CUBN	NM_001081.4(CUBN):c.4017+277_4017+278dup	noncoding	Benign
10	17044065	G	GA	T17044072A	CUBN	NM_001081.4(CUBN):c.3673-88dup	noncoding	Benign
10	17044128	ATAT	A	T17044132A	CUBN	NM_001081.4(CUBN):c.3673-148_3673-146del	noncoding	Benign
10	17044147	TATATA	T	A17044153T	CUBN	NM_001081.4(CUBN):c.3673-169_3673-165del	noncoding	Benign
10	17045360	AT	A	T17045377G	CUBN	NM_001081.4(CUBN):c.3491-173del	noncoding	Benign
10	17047329	A	AT	C17047337T	CUBN	NM_001081.4(CUBN):c.3329+78dup	noncoding	Benign
10	17067903	CA	C	A17067905G	CUBN	NM_001081.4(CUBN):c.3008+160del	noncoding	Benign
10	17067975	AAC	A	C17067979A	CUBN	NM_001081.4(CUBN):c.3008+87_3008+88del	noncoding	Benign
10	17068437	CAATT	C	T17068440C	CUBN	NM_001081.4(CUBN):c.2792-161_2792-158del	noncoding	Benign
10	17084379	GGT	G	T17084383A	CUBN	NM_001081.4(CUBN):c.2191_2192del:p.Thr731fs	coding	Pathogenic
10	17084546	C	CCA	A17084565C	CUBN	NM_001081.4(CUBN):c.2111-103TG[10]	noncoding	Benign
10	17088011	TAG	T	G17088015C	CUBN	NM_001081.4(CUBN):c.1947+151_1947+152del	noncoding	Benign
10	17088218	AG	A	G17088219T	CUBN	NM_001081.4(CUBN):c.1892del:p.Thr631fs	coding	Pathogenic
10	17105611	TCTC	T	C17105618T	CUBN	NM_001081.4(CUBN):c.1112-45GAG[2]	noncoding	Benign
10	17115243	CAAA	C	A17115262T	CUBN	NM_001081.4(CUBN):c.720+225_720+227del	noncoding	Benign
10	17115243	CAA	C	A17115263T	CUBN	NM_001081.4(CUBN):c.720+226_720+227del	noncoding	Benign
10	17115243	CA	C	A17115264T	CUBN	NM_001081.4(CUBN):c.720+227del	noncoding	Benign
10	17115243	C	CA	T17115265A	CUBN	NM_001081.4(CUBN):c.720+207dup	noncoding	Benign
10	17122761	A	AC	T17122763C	CUBN	NM_001081.4(CUBN):c.593+33dup	noncoding	Benign
10	17122773	CA	C	A17122789G	CUBN	NM_001081.4(CUBN):c.593+21del	noncoding	Benign
10	17122773	C	CA	G17122790A	CUBN	NM_001081.4(CUBN):c.593+6dup	noncoding	Benign
10	17230375	G	GT	G17230377T	VIM	NM_003380.5(VIM):c.564-274dup	noncoding	Benign
10	17237212	G	GT	A17237224T	VIM	NM_003380.5(VIM):c.1360-7dup	noncoding	Benign
10	17594241	AATAGT	A	T17594243G	HACD1	NM_014241.4(HACD1):c.743_747del:p.Tyr248fs	coding	Pathogenic
10	17604049	TA	T	A17604060G	HACD1	NM_014241.4(HACD1):c.258-3del	noncoding	Benign
10	18150855	C	CTTTTTTTTTTTTTTT	A18150881T	CACNB2	NM_201596.3(CACNB2):c.121-17_121-3dup	noncoding	Benign/Likely_benign
10	18150855	C	CTTTTTTTTTTTTTTTTTTTTTTT	A18150881T	CACNB2	NM_201596.3(CACNB2):c.121-25_121-3dup	noncoding	Benign/Likely_benign
10	18150879	T	TTTG	A18150881T	CACNB2	NM_201596.3(CACNB2):c.121-3_121-2insTGT	noncoding	Benign/Likely_benign
10	18150879	T	TTTTTG	A18150881T	CACNB2	NM_201596.3(CACNB2):c.121-3_121-2insTTTGT	noncoding	Benign
10	18150879	T	TTTTTTG	A18150881T	CACNB2	NM_201596.3(CACNB2):c.121-3_121-2insTTTTGT	noncoding	Benign/Likely_benign
10	18151273	GT	G	T18151287C	CACNB2	NM_201596.3(CACNB2):c.213+312del	noncoding	Benign
10	18400640	G	GT	C18400658T	CACNB2	NM_201596.3(CACNB2):c.214-1267dup	coding	Benign
10	18400640	GT	G	T18400657C	CACNB2	NM_201596.3(CACNB2):c.214-1267del	coding	Benign
10	18400640	GTT	G	T18400656C	CACNB2	NM_201596.3(CACNB2):c.214-1268_214-1267del	coding	Benign
10	18498074	AAC	A	C18498078T	CACNB2	NM_201596.3(CACNB2):c.334-277_334-276del	noncoding	Benign
10	18506683	A	AAC	T18506684A	CACNB2	NM_201596.3(CACNB2):c.670+136_670+137insAC	noncoding	Benign
10	18506684	TGC	T	G18506685C	CACNB2	NM_201596.3(CACNB2):c.670+138_670+139del	noncoding	Benign
10	18506788	G	GTATT	T18506814A	CACNB2	NM_201596.3(CACNB2):c.670+242TATT[7]	noncoding	Benign
10	18514106	C	CT	G18514109T	CACNB2	NM_201596.3(CACNB2):c.671-128dup	noncoding	Benign
10	18536242	C	CCTTTT	T18536248C	CACNB2	NM_201596.3(CACNB2):c.1302+47_1302+51dup	noncoding	Benign
10	18536264	TTTTTTTTTTGG	T	T18536265G	CACNB2	NM_201596.3(CACNB2):c.1302+69_1302+79del	noncoding	Benign
10	18536266	TTTTTTTTGG	T	T18536267G	CACNB2	NM_201596.3(CACNB2):c.1302+71_1302+79del	noncoding	Benign
10	18536273	TGG	T	G18536277A	CACNB2	NM_201596.3(CACNB2):c.1302+81_1302+82del	noncoding	Benign
10	18538377	T	TTTTATATATATCTATATATAC	A18538399T	CACNB2	NM_201596.3(CACNB2):c.1488+13_1488+33dup	noncoding	Benign/Likely_benign
10	18538981	C	CT	A18538994T	CACNB2	NM_201596.3(CACNB2):c.1489-237dup	noncoding	Benign
10	18539740	G	GT	G18539760T	CACNB2	NM_201596.3(CACNB2):c.*35dup	noncoding	Benign
10	18539740	GTT	G	T18539758G	CACNB2	NM_201596.3(CACNB2):c.*34_*35del	noncoding	Benign
10	18539740	GTTT	G	T18539757G	CACNB2	NM_201596.3(CACNB2):c.*33_*35del	noncoding	Benign/Likely_benign
10	18539792	CA	C	A18539795G	CACNB2	NM_201596.3(CACNB2):c.*71del	noncoding	Benign
10	18539792	C	CAA	G18539796A	CACNB2	NM_201596.3(CACNB2):c.*70_*71dup	noncoding	Benign
10	20787586	CA	C	A20787591T	NEBL	NM_006393.3(NEBL):c.2762-279del	noncoding	Benign
10	20828519	T	TAGC	G20828520A	NEBL	NM_006393.3(NEBL):c.1776+10_1776+11insGCT	noncoding	Benign
10	20828765	C	CAG	G20828784A	NEBL	NM_006393.3(NEBL):c.1672-149CT[10]	noncoding	Benign
10	20852511	AG	A	G20852514A	NEBL	NM_006393.3(NEBL):c.1008+33del	noncoding	Benign
10	20868834	CA	C	A20868848T	NEBL	NM_006393.3(NEBL):c.583-70del	noncoding	Benign
10	20868845	AAAAT	A	A20868848C	NEBL	NM_006393.3(NEBL):c.583-84_583-81del	noncoding	Benign
10	20868847	AAT	A	T20868849A	NEBL	NM_006393.3(NEBL):c.583-84_583-83del	noncoding	Benign
10	20888227	GA	G	A20888234T	NEBL	NM_006393.3(NEBL):c.259-21del	noncoding	Benign
10	20889951	T	TA	G20889958A	NEBL	NM_006393.3(NEBL):c.154-3dup	noncoding	Benign
10	21172481	GA	G	A21172495C	NEBL	NM_213569.2(NEBL):c.70-5del	noncoding	Benign
10	21172481	G	GA	C21172496A	NEBL	NM_213569.2(NEBL):c.70-5dup	noncoding	Benign
10	23192966	GCTGCGGCGGCGCGGCGCCGGCGGC	G	C23192967G	PTF1A	NM_178161.3(PTF1A):c.437_460del:p.Ala146_Arg154delinsGly	coding	Pathogenic
10	23193463	GT	G	T23193480A	PTF1A	NM_178161.3(PTF1A):c.784+166del	noncoding	Benign
10	23193463	GTT	G	T23193479A	PTF1A	NM_178161.3(PTF1A):c.784+165_784+166del	noncoding	Benign
10	23194062	AGAT	A	G23194066T	PTF1A	NM_178161.3(PTF1A):c.*157GAT[1]	noncoding	Benign/Likely_benign
10	26026112	C	CGACAGAAGTGGTATTTAGTTGA	A26026135G	MYO3A	NM_017433.5(MYO3A):c.798-264_798-243dup	noncoding	Benign
10	26070271	T	TA	T26070274A	MYO3A	NM_017433.5(MYO3A):c.1276-45dup	noncoding	Benign
10	26128448	C	CA	T26128457A	MYO3A	NM_017433.5(MYO3A):c.2180dup:p.Asn727fs	coding	Pathogenic
10	26145179	CAAAAAAA	C	A26145192C	MYO3A	NM_017433.5(MYO3A):c.2417-254_2417-248del	noncoding	Benign
10	26145179	CA	C	A26145198C	MYO3A	NM_017433.5(MYO3A):c.2417-248del	noncoding	Benign
10	26147231	CAGATGATAAGGAGCTACCTTA	C	A26147264G	MYO3A	NM_017433.5(MYO3A):c.2506-166_2506-146del	noncoding	Benign
10	26147369	TGAG	T	G26147381T	MYO3A	NM_017433.5(MYO3A):c.2506-60GAG[3]	noncoding	Benign
10	26166304	GAAGTAAAGTTAT	G	G26166307A	MYO3A	NM_017433.5(MYO3A):c.3111+129_3111+140del	noncoding	Benign
10	26173998	CAG	C	A26174001G	MYO3A	NM_017433.5(MYO3A):c.3737_3738del:p.Glu1246fs	coding	Pathogenic
10	26211623	C	CA	C26211625A	MYO3A	NM_017433.5(MYO3A):c.4731-219dup	noncoding	Benign
10	26698091	GT	G	T26698095G	PDSS1	NM_014317.5(PDSS1):c.129+255del	noncoding	Benign
10	26704433	TG	T	G26704438A	PDSS1	NM_014317.5(PDSS1):c.163-239del	noncoding	Benign
10	26720373	G	GT	A26720381T	PDSS1	NM_014317.5(PDSS1):c.609+21dup	noncoding	Benign
10	26742223	TA	T	A26742225C	PDSS1	NM_014317.5(PDSS1):c.1027-272del	noncoding	Benign
10	26742593	T	TA	G26742602A	PDSS1	NM_014317.5(PDSS1):c.1107+24dup	noncoding	Benign
10	26742795	C	CT	A26742798T	PDSS1	NM_014317.5(PDSS1):c.1107+220dup	noncoding	Benign
10	26746388	TAA	T	A26746389G	PDSS1	NM_014317.5(PDSS1):c.1164_1165del:p.Ile388fs	coding	Pathogenic
10	27005520	CAT	C	A27005521G	ANKRD26	NM_014915.3(ANKRD26):c.*68_*69del	noncoding	Benign/Likely_benign
10	27022459	T	TA	T27022471A	ANKRD26	NM_014915.3(ANKRD26):c.4215+88dup	noncoding	Benign
10	27033082	CA	C	A27033096G	ANKRD26	NM_014915.3(ANKRD26):c.3807+142del	noncoding	Benign
10	27033443	TTA	T	A27033445G	ANKRD26	NM_014915.3(ANKRD26):c.3655-68_3655-67del	noncoding	Benign
10	27035877	G	GA	G27035889A	ANKRD26	NM_014915.3(ANKRD26):c.2698-136dup	noncoding	Benign
10	27037836	TA	T	A27037841T	ANKRD26	NM_014915.3(ANKRD26):c.2559+34del	noncoding	Benign
10	27043690	TTG	T	G27043692T	ANKRD26	NM_014915.3(ANKRD26):c.2020-125_2020-124del	noncoding	Benign
10	27044125	CAAT	C	A27044129T	ANKRD26	NM_014915.3(ANKRD26):c.2019+29_2019+31del	noncoding	Benign
10	27044192	TA	T	A27044204T	ANKRD26	NM_014915.3(ANKRD26):c.1986-3del	noncoding	Benign/Likely_benign
10	27066342	TATTA	T	A27066347T	ANKRD26	NM_014915.3(ANKRD26):c.1269+141_1269+144del	noncoding	Benign
10	27077597	AAT	A	T27077599A	ANKRD26	NM_014915.3(ANKRD26):c.874+34_874+35del	noncoding	Benign
10	27077924	CT	C	T27077925A	ANKRD26	NM_014915.3(ANKRD26):c.814-232del	noncoding	Benign
10	27078910	TA	T	A27078929G	ANKRD26	NM_014915.3(ANKRD26):c.813+178del	noncoding	Benign
10	27078910	T	TAA	G27078930A	ANKRD26	NM_014915.3(ANKRD26):c.813+160_813+161dup	noncoding	Benign
10	27086268	T	TTTC	A27086271C	ANKRD26	NM_014915.3(ANKRD26):c.709+270_709+271insAAG	noncoding	Benign
10	27093898	TTTGGCTGTGTCCCCACCCAAATCTCATC	T	C27093914A	ANKRD26	NM_014915.3(ANKRD26):c.243-127_243-100del	noncoding	Benign
10	27099866	A	AG	A27099870G	ANKRD26	NM_014915.3(ANKRD26):c.242+216dup	noncoding	Benign
10	27126646	CTT	C	T27126648G	YME1L1	NM_014263.4(YME1L1):c.949+48_949+49del	noncoding	Benign
10	27145289	CA	C	A27145300C	YME1L1	NM_014263.4(YME1L1):c.331+138del	noncoding	Benign
10	27147532	TGC	T	G27147533C	YME1L1	NM_014263.4(YME1L1):c.168+1372_168+1373del	coding	Benign
10	27197349	A	AT	C27197354T	ACBD5	NM_145698.5(ACBD5):c.*80dup	noncoding	Benign
10	27197457	TA	T	A27197462C	ACBD5	NM_145698.5(ACBD5):c.1566-16del	noncoding	Benign
10	27211093	A	AAATG	C27211099A	ACBD5	NM_145698.5(ACBD5):c.937-16_937-13dup	noncoding	Benign
10	27215330	A	AT	A27215332T	ACBD5	NM_145698.5(ACBD5):c.936+204dup	noncoding	Benign
10	27223491	TC	T	C27223492T	ACBD5	NM_145698.5(ACBD5):c.376-40del	noncoding	Benign
10	27223519	TA	T	A27223521T	ACBD5	NM_145698.5(ACBD5):c.376-68del	noncoding	Benign
10	27234933	AAAAC	A	C27234945A	ACBD5	NM_145698.5(ACBD5):c.302+147GTTT[2]	noncoding	Benign
10	27235081	C	CA	T27235088A	ACBD5	NM_145698.5(ACBD5):c.302+10dup	noncoding	Benign
10	27532330	AATTTT	A	A27532336G	RAB18	NM_021252.5(RAB18):c.187-171_187-167del	noncoding	Benign
10	27533554	TA	T	A27533564C	RAB18	NM_021252.5(RAB18):c.260-171del	noncoding	Benign
10	27533690	TTC	T	C27533692T	RAB18	NM_021252.5(RAB18):c.260-43_260-42del	noncoding	Benign
10	27812184	CTT	C	T27812188A	ODAD2	NM_018076.5(ODAD2):c.*326_*327del	noncoding	Benign
10	27812609	ACCATATC	A	C27812611A	ODAD2	NM_018076.5(ODAD2):c.3031_3037del:p.Asp1011fs	coding	Pathogenic
10	27862675	AT	A	T27862681A	ODAD2	NM_018076.5(ODAD2):c.2611-54del	noncoding	Benign
10	27862791	AGT	A	G27862802A	ODAD2	NM_018076.5(ODAD2):c.2611-181AC[5]	noncoding	Benign
10	27907496	G	GA	G27907504A	ODAD2	NM_018076.5(ODAD2):c.2610+160dup	noncoding	Benign
10	27907888	A	AT	G27907903T	ODAD2	NM_018076.5(ODAD2):c.2496-125dup	noncoding	Benign
10	27970970	TTAAATAAA	T	T27971003C	ODAD2	NM_018076.5(ODAD2):c.1142+98TTTA[8]	noncoding	Benign
10	27970970	TTAAA	T	T27971007C	ODAD2	NM_018076.5(ODAD2):c.1142+98TTTA[9]	noncoding	Benign
10	27970970	T	TTAAA	C27971011T	ODAD2	NM_018076.5(ODAD2):c.1142+98TTTA[11]	noncoding	Benign
10	27971007	TAAACAAAC	T	C27971015A	ODAD2	NM_018076.5(ODAD2):c.1142+93_1142+100del	noncoding	Benign
10	27971007	TAAAC	T	C27971019A	ODAD2	NM_018076.5(ODAD2):c.1142+89GTTT[2]	noncoding	Benign
10	27981130	TAGAAATAGCAGATCAGAGTTAACCAGGAAGTCAGGGAAGAAGGAATGGGGAATTATTGCTTAATGGGTGTAGAGTTCAAGTTCGAGAGACGAAAAAGACTTGGAAATTGACAATAGTGATATTTGTACAACATTGTGAATGTAATTAATGCCATTGAACCCTGAACAATGATACTACATTTACAGTATTTTTATGTTATGTTATGTTGTAAAAAAAAACCACTAATAATAAAAAGTGCCCAAAAATAGGCAAAATTACTGTTTTTCTTGTACCATAGAAAGTTGTAGTTTAGTAACATAATGCTATGAAAGCTCAAAAGAAACCATAAAACTTACCAATTTAGACATATTTTCTGAAAATTTTGGTGATTTTTCTCTTAAAAATGTGACAAGGTTTTTATAAATTGAACCTTTTCTCTCATAATTAACGTCCCCTTCATCATCTGTTTTGCCCTTTGGGAAAAAACAAGTTTCATTCTATGATTAACATAAGAACAATTGTAAGAAGCTGATCAATACATCACAAGCTAGCCACACGTATTATTTTCATCTCCGAAGGATCTATATGGTAGTTTTAATACAGGAAATGTATAGGCAAAATCCTTCCCCCTTAATTTAATGTTATCTATTTTTCCATTCATTCACTCATTCCTTCCTTCATTCAATTGTTCATTCATTCAGCAAGGCTTTACTGAGTACCTCCTATATGCATGTAAGGCACTCTGCTGTTCAGCAGAGAAGTGAGAGCTTCCTTCTCTCCGCTCTCCTCTACTCTGAAAATGCATTATGACCTCACGAGCCTTAGTTGATGATGTCATAAAAGTCTTCAAGGTTAGAATTTAACCGTGGAAAAGCCTACATTTCTGTTTGTCACACTCTGTTCTTCTGTCTGTGGCATGGTTGCTATAGGCTTATTTTCTAGATCTCTGTGTAACGATCTGTCCACACACCCATGTGTCTCTCTCTCTCTTCTTGTCTCTTTCCTTTCCTCATTTTCCTTTTCTTCCCTACCTCTATTGTTCTTCCATAACAGAATATATATATATAATGTATACACACATCACATAACTATATGTATATAAATACATATAACTGCAGTTTGTTATATATAACTGTATACACAAAAACATTTCTATACGTATGACCAGTGTGTTTTAAACTTTGTTGTAATTATTGAGTAGTTTTATGGTCCTTGTCTTTCATTTTTTTAAAACTTAAAGGGATACTTAGATATCTCCATGCTAAATAAGTTATATGTATGTAGATCAATAATAACCTTTGATAGAAATAAAGACTCCCTGCCCCCCTCCAGAAGGTCAAAGAAAATCATTCCTTCTTTTGTCCCTTTATTCCTAATTAGAGATTTCGTTTTTCTAAAATATCATAAACCAAAGCAAAATCTTATTTGTCTACTGCCTCTTTGTAGAAATGAGCTCAGTGTCATGCTAATAAGAAAAGCACCAAAAGGCATGTCAGAAAGATAACTATAGGTAATCAGAAAAGAGGCTCCAGCATTTTGGTACCAACCCAAGCCAACATGTAACAACCCTCCAGGCAGTCCCCCGTGATGGCTGGGTCCCCATTAAGGACTTGGATCCTCCTTGTAGAATTTTGTTTCTGAGTTCCAAATTTATGTTGAAGATACTGAGGGCAGGATGTTGCAGAGGTGAAAGCTAAGCTCCTTCTAGCTGGTTCTGTGAATAGGGATGAGACTGAAAGTGTTTTAATCCAGAACACTGTGTGCTGTTTATCACTCAGCTCAAAGCCCAGCCACCCAGCCTCTACTTTGTGCTACTCACGCAGGAATCTGCAATGTCGTATTTCTCCTTTCACCAGGCTAGGTTATTAGGCTCCGTCATTAGAATCAGCTAAAGGAAGACTGAAAGGCTGGCAGAGGGAGGAGGGACCTGCTGCTTCCTGCTGGCCCACTGTCCCTGTTAGAGTCACCCCAGCAACGGCCCTTCTTTCCACACAGTGGCAGTTGCTTCCAGTAGCAACAGTTGGTTCCAGTTTCCAGGTTTGTTGATTTTTCACGGTCCCAGAAACAGGCTCACCTCACCCCCTGGGAAATATCACTATCAGTCATCCAGTGCTCCATTTTCAAAGGTCCAGGTCCCAGCTCTGCCATCTCTACAAGGATCCTCTTCCCGAGGTATGAGCATTAACTGGGCAGTGCCCACTCTTCAGAGATCTGGAGCCCTGCCTCATGGAGATGGTCTGAACTCTGTGGGGACCAGCACAGCCTGGAAGTGGACCCTCCCAAGAGGTCTGGGTCCCAGCTTCATAGGGCACTGTCTCCTACCTTCTACATTTAGATAAGCCCCTCTCTTTCCCTTTGTCCCTCCAACTCTTAGGATGCAAGCTGCAGTTATGACATCTGTATTATCTCAATGTTTCTTTTTTGACCTTTCTATCATTTGGAAGCTGTGTAATGAATCAGTGAAGTGATTACGTTAAAGACATTTATAAAGTGGAATGGGTCACTTTGAAGCCCATTTCTTATCAGATTGGCTTAATGACCTGCAGTGGAGAATAAGAGAGCTAATTCTGAAGCTATTTTGGATTTGCCCAGCAAGCATATATCAAAGGAATCTGCTTCTATCCCACAGAATGGTAATTCATTCTCTGTGGTCATTGGGACACACCCTTGAGACATCTACAGCTAACAATCAAAGTCCACTGGCTTTAGTTACGTTTTTAAAAATTTACTTACACCATTTAAAAATACTCCTCCTGCACTGCAAGTAATGCACAGAGTCTCACCATCGTGAGGTTTCACCAGCACATAACAAATTTCCCCACGAATTTGTCTCCACGGTGGGGCTCGACATCCATTTGAAAATTCATAATCTGAAACCAATCATCAAGCAATTAACAGGAGTTCCTTAACCTAGAGTTTGGTAAAAAGTGTTGGCTTCCACAAAATAAATATTGTGGAAATTTTAAGCTTTCCCCTTCTTAAACCTTCTCTTGTAATGTAGACATTGAAAGCATTTTGCAAATGTAATTATGAAAATGTAAATAACATAAAATGAGCCTGAGAAAACATCAAACCTGAGGTATATTCAATAGATTCCAAGACTGTTTGGTTTCCTTTTCCTGAGAAACGTTTGAGCAGTTCTATATCCTTCTTCACCGTCATGGGACTTAAACTTATTTCTCTGAAATAAATGTTTAAAATGTCAGCTTAAATACTTTAAACAGAATCTAGGAAACACATGAACACATTTCATTGTATCAGGAGAAATATCTTTTTTGTAATTAAAATTGCAGTTAATTTTAGCCGTGCTATAATTTTATAACAGCACTGTCAACACATCAAGTAATTAGTGATTTATGTTTAATGCAACATTAAACGTACTCCATTAAATATTCACTTTATTTCATGCTGATAATATTCTAACACTAAAAATATTAGAAAATGAACATGCTTTGGACTATACAAACTCTACATGATATCTGCATTATAATTTAATAATTTGTGTAATAGTCTTGAGAGCATTTGAAAATAACAAGACCACCTAATGTCTTCAGAATTGCATGAAACCCCACCAGAATGTTTTCGTGATGTCACCTGCAATTTTTAATTTTTAGAACTGGAATAAATGAATCCCAGGAAAATTGTTTGTTCCAATAAAATGTAAAGTTAAATCCATAGCAATAACTTCCATACTTTACTTTTCTTGTGTCTTTTTTTCTAAAACTCTGAAAGCAACTTTGTAACTAATTTTTAAAGGTTCCTTTTTAATTTTTTAATTTTAATTGTAATATTTTATTATTTATTTAACTATCTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTTCAGTGGTGCAATCTTGGCTCAATACAATAGAGGTTCCTTTTTGAAAAAGACTCACAATGAAATATGTTTTAGAGAATGATTGAGGAGGTGCAGATCCAATTGCTTAAGCAGCATAGCAATCTTCATCTTAATTTCACTTTCAGGATCATCATCTCTGGTAATTTTGCCAAGAATATTTAATGCAATTGAGTTTTCTTTCATTGTATTATAATCAGAGCCCAGGATTTTTACTATGGGGTCTCTGTTAGCTGCCAAAAAAAAAAAAAAGGAGACAAATAAAAATTATCCACTTGTCTTCTAGTACAACAAACATTAAGACTAATAAATCCTTCAAAGTCCATTCAGACGTGTTTCTTTCATTAAGCTTTTTCTAAACGACCCAATTAGAATTCATCTCTACGTCTGAGATTCCATTGCTTTTAGGAACTTTCTTCTACTTCACGAGATGCTCTAGTTTGTATTGTAACATCATCTATATATCTCCCTAATAGCACAAAGACCAAGACAGTCATTCATTCTTTCTTTTTTAATTGGCCGTGGGGCATTGTTCAGAATGCACATTCAATTAATACATTCAGAATTTATTTGAAGATGGAGAAATAGTGATCTTCTTAGAAGAATCATCACTAGAACTATATGTGCATGTGTGTATGTGTGTGTAGCAGTGCTGGGTATTTATAAAGGCTTTCTTTCCAAAATAGCATGCTTTCCTAAGCCTACAGACCCAGTAGCACTCTTTTGCAAGTATTCAAACAGCTTAATATTTGCAATGCCATATGATCTTAGAGTTGGAAAGCACATCTAGCCATATACATAATATATACATAATTTAATTATATATATATTAAAATTATAGTGAAAAACAAATACCAATTCATTATCAAGGCTGATACAGATGTGAAAGTTGAACCTAGAGATGTTGAAAACAGAATTTGGTTAATGTCAAAAACCAATATGGTTGAAAATGAAGGAGAAAGTGGAAAACCCTTGTTTAGAATGGAGAAATTTGAGAAAGATGAAAATATGTATGCATTGAGATGGGGGTGGAGAGGAAGGCCTATGAGACTAATTCAGAAAGCTTAACTTAAAGGAAATGAAGAAAAGTATAGTGAAGGCATTAACATTCCCATGTGGTCATGGGATATGCCAAGGCCTTAAGGCTGAGAAAAGGACTTCACTGGGGGAGAGGAGAGCAGCGAAAAGGAGACAAAGGAATCAACCATTTATTGAGCATCTCAACTTAACAACCTTATGACTGTCATCACACAGAGATTTACAAAAAGAGCAGGCAGATTCTGAGGAATGGCATAAACCTGACTACCAAATTGCCATGTACCATGCAACTTGGACCTGAAACTAAGGGTTATACCAAAATTCTTGCAGAAATGGCAAAATGTAGCAAAGGATAAGTATTTAGCAAATGGATAA	T	A27981131G	ODAD2	NM_018076.5(ODAD2):c.382+995_936+335del	noncoding	Pathogenic
10	27985216	CAA	C	A27985229G	ODAD2	NM_018076.5(ODAD2):c.383-7_383-6del	noncoding	Benign
10	27985216	CA	C	A27985230G	ODAD2	NM_018076.5(ODAD2):c.383-6del	noncoding	Benign
10	27985216	C	CAA	G27985231A	ODAD2	NM_018076.5(ODAD2):c.383-19_383-18dup	noncoding	Benign
10	27985216	C	CA	G27985231A	ODAD2	NM_018076.5(ODAD2):c.383-19dup	noncoding	Benign
10	28533604	CAG	C	G28533608C	WAC	NM_016628.5(WAC):c.29_30del:p.Arg10fs	coding	Pathogenic
10	28535708	CAGTA	C	T28535711G	WAC	NM_016628.5(WAC):c.228_231del:p.Ser76fs	coding	Pathogenic
10	28535735	CAG	C	A28535738T	WAC	NM_016628.5(WAC):c.255_256del:p.Arg85fs	coding	Pathogenic
10	28535887	A	AT	A28535898T	WAC	NM_016628.5(WAC):c.274+140dup	noncoding	Benign
10	28583552	C	CA	T28583569A	WAC	NM_016628.5(WAC):c.381+63dup	noncoding	Benign
10	28583603	C	CT	A28583613T	WAC	NM_016628.5(WAC):c.381+107dup	noncoding	Benign
10	28589817	T	TC	A28589819C	WAC	NM_016628.5(WAC):c.464dup:p.Gln156fs	coding	Pathogenic
10	28595779	TA	T	A28595780T	WAC	NM_016628.5(WAC):c.658del:p.Ile220fs	coding	Pathogenic
10	28608337	TC	T	C28608338A	WAC	NM_016628.5(WAC):c.1072del:p.Gln358fs	coding	Pathogenic
10	28608365	C	CT	C28608368T	WAC	NM_016628.5(WAC):c.1101dup:p.Pro368fs	coding	Pathogenic
10	28610765	CA	C	A28610766T	WAC	NM_016628.5(WAC):c.1233del:p.Ser412fs	coding	Pathogenic
10	28610912	A	AT	A28610924T	WAC	NM_016628.5(WAC):c.1288+102dup	noncoding	Benign
10	28611803	T	TTAACATCTGATGCGTCATC	C28611823T	WAC	NM_016628.5(WAC):c.1319_1337dup:p.Ser446_Pro447insAsnIleTer	coding	Pathogenic
10	28614471	G	GTCTTCTTTAAAACA	C28614472T	WAC	NM_016628.5(WAC):c.1438-96_1438-95insTCTTCTTTAAAACA	noncoding	Benign
10	28614631	C	CT	G28614633T	WAC	NM_016628.5(WAC):c.1503dup:p.Asp502Ter	coding	Pathogenic
10	28615985	CCCTAAAGTGTTTTGAGGAATCATATACTTTGGATTATTAATTCTCTTTATTTGACATTAAAATAACAAATTTTTCTTAGGAATTTGGATATCTTTAAGTTAATAAAAGGTATTAACATGCAGTTTCTAGGATAAGGATACCCAGAAACTACTTTTAAACATACTACACATTCAATTCTGTTTTCTAGTAGCCAGAGAAGTCCATCACCTGGTCCCAATCATACTTCTAATAGTAGTAATGCATCAAATGCAACAGTTGTACCACAGAATTCTTCTGCCCGATCCACGTGTTCATTAACGCCTGCACTAGCAGCACACTTCAGTGAAAATCTCATAAAACACGTTCAAGGATGGCCTGCAGATCATGCAGAGAAGCAGGTATGTTATGTACAGCCTAGATTTTACCTTTGGATGATTAGCAAAACAGAATTTAATCAACTTCTAGAGAATCTAATGTGACCACTGAATTCAAGCAATATTTAAAATAATGAATCTCTAACTTTGTAGTCATTTAAAAAATATTTGATATATAAGATAACTTTTCTGGTTTTACAAAATATTTTAACATAATTATAGGCACTGTTGTCAAGTACTCAGCAGTTAGCTCAGTGCTTAATGCCTTATATTTATTTTCTCTACTTCTTAAAACAGCTAAGCAGTGTAGATAGAGTTGAAGTCCTTAAGACCAAATAGTGCATAAGACCTTGATCCCAGGGTCACCCAGTTAACAGTGATGTGGCTCAAAGCCAGTGTACTTTTTCCACTCAGCTTCTCTGATAGTTTCAGATTCCATTAGCACTGTTAATCTACTGGCCAAGCGCAGTGGCTCATACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGCCAGCCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAACCCCATCTCTAACCACAAGTATAAAAATTAGCCAGGCATGGTGGCATGCACCTGTAATTACAGCTACTCGGGAGCCTGAGGCACCAGAATTACGTGAACCCAGGAGGCAGAAGTTGCAGTGAGCCGAGATTGCACCACTGTACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAACAAAAAAAAACCCCACTTAATTTTCTATGACTCTCTCACTAGACTAGCAACTGGAAGTTAGGAAACATTTTTGCTTTGGGATGAGAGACCTTAGGACATTCCAGTTACTGCCATTTGCCTCTTGCTTTTTATCAGATAACTGACCATCTGGGGTGTTCGAAAGTTTACAGAGAATATGTTGTGTGTCTTACGATAGAGGAGTATAGTGAGGCTCTTGAATCAATATCTAATACCTGAACTTGCAGAAATGACAATCTCTTTGGCTGACCCAGCATCTTTTATTAACCACAAATTATGAGTCCTTTCTTAGTGCTGTATTAGCTTCAGGTTGGAAATCCTATTTTCTCCAACTTAGAAGAGAAATATTAAAATAAGTA	C	A28615989T	WAC	NM_016628.5(WAC):c.1557-184_1747-188del	noncoding	Pathogenic
10	28616181	G	GA	G28616184A	WAC	NM_016628.5(WAC):c.1567dup:p.Ser523fs	coding	Pathogenic
10	28616245	A	AC	A28616248C	WAC	NM_016628.5(WAC):c.1631dup:p.Gln545fs	coding	Pathogenic
10	28617739	C	CTTTA	G28617744T	WAC	NM_016628.5(WAC):c.1830_1833dup:p.Val612fs	coding	Pathogenic
10	29458226	GCTC	G	C29458230T	SVIL	NM_021738.3(SVIL):c.*15GAG[1]	noncoding	Benign
10	29458383	GT	G	T29458384G	SVIL	NM_021738.3(SVIL):c.6558+50del	coding	Benign
10	29462562	ATGTT	A	T29462567A	SVIL	NM_021738.3(SVIL):c.6278-165_6278-162del	noncoding	Benign
10	29470245	TG	T	G29470251A	SVIL	NM_021738.3(SVIL):c.5843+30del	noncoding	Benign
10	29471432	AG	A	G29471435A	SVIL	NM_021738.3(SVIL):c.5530-190del	noncoding	Benign
10	29487396	TAA	T	A29487398G	SVIL	NM_021738.3(SVIL):c.4349-99_4349-98del	coding	Benign
10	29494839	G	GAAGATAACAACAAAGATAATGATTACAGTATGAATTAGGAAAGCCATAATAGAAAGAAAATAATTTA	G29494840A	SVIL	NM_021738.3(SVIL):c.3841+74_3841+75insTAAATTATTTTCTTTCTATTATGGCTTTCCTAATTCATACTGTAATCATTATCTTTGTTGTTATCTT	noncoding	Benign
10	29495055	GAAACT	G	A29495056G	SVIL	NM_021738.3(SVIL):c.3754+32_3754+36del	noncoding	Benign
10	29499100	A	ACACACACACACATGTG	T29499112A	SVIL	NM_021738.3(SVIL):c.3664+15_3664+16insGTGTGTGTGTGCACAT	noncoding	Benign
10	29550444	G	GAA	G29550459A	SVIL	NM_021738.3(SVIL):c.827+139_827+140dup	noncoding	Benign
10	29550444	G	GA	G29550459A	SVIL	NM_021738.3(SVIL):c.827+139dup	noncoding	Benign
10	29555313	G	GACAC	T29555345C	SVIL	NM_021738.3(SVIL):c.-50-235GT[17]	noncoding	Benign
10	29555313	G	GAC	T29555345C	SVIL	NM_021738.3(SVIL):c.-50-235GT[16]	noncoding	Benign
10	29555339	CACACAT	C	A29555340G	SVIL	NM_021738.3(SVIL):c.-50-237_-50-232del	noncoding	Benign
10	29555340	ACACATG	A	C29555341G	SVIL	NM_021738.3(SVIL):c.-50-238_-50-233del	noncoding	Benign
10	29555342	ACATG	A	C29555343G	SVIL	NM_021738.3(SVIL):c.-50-238_-50-235del	noncoding	Benign
10	30315848	AT	A	T30315850A	MTPAP	NM_018109.4(MTPAP):c.1386+114del	noncoding	Benign
10	30340505	CTATTT	C	T30340508G	MTPAP	NM_018109.4(MTPAP):c.331-60_331-56del	noncoding	Benign
10	30349279	TAA	T	A30349300C	MTPAP	Single_allele	noncoding	Benign
10	30349279	TA	T	A30349301C	MTPAP	NM_018109.3(MTPAP):c.-5del	noncoding	Benign
10	30349279	T	TAAAA	C30349302A	MTPAP	Single_allele	noncoding	Benign
10	30349279	T	TAAA	C30349302A	MTPAP	Single_allele	noncoding	Benign
10	30349279	T	TA	C30349302A	MTPAP	Single_allele	noncoding	Benign
10	30349357	AG	A	G30349366C	MTPAP	Single_allele	noncoding	Benign
10	30349358	G	GGA	G30349360A	MTPAP	Single_allele	noncoding	Benign
10	30349359	G	GGA	G30349361A	MTPAP	Single_allele	noncoding	Benign
10	30458268	C	CG	C30458278G	MAP3K8	NM_005204.4(MAP3K8):c.1026+41dup	noncoding	Benign
10	30458268	C	CGG	C30458278G	MAP3K8	NM_005204.4(MAP3K8):c.1026+40_1026+41dup	noncoding	Benign
10	30459660	G	GT	A30459672T	MAP3K8	NM_005204.4(MAP3K8):c.1273+170dup	noncoding	Benign
10	43077302	T	TG	C43077304G	RET	NM_020975.6(RET):c.45dup:p.Leu16fs	coding	Pathogenic
10	43077501	GAA	G	A43077502G	RET	NM_020975.6(RET):c.73+171_73+172del	noncoding	Benign
10	43077503	A	AGCGGGCGGC	G43077505C	RET	NM_020975.6(RET):c.73+173_73+174insCGGGCGGCG	noncoding	Benign
10	43086714	GAAGCAACTGCC	G	A43086716G	RET	NM_020975.6(RET):c.73+9385_73+9395del	noncoding	Benign/Likely_benign
10	43100388	A	AT	G43100403T	RET	NM_020975.6(RET):c.74-57dup	noncoding	Benign
10	43100388	AT	A	T43100402G	RET	NM_020975.6(RET):c.74-57del	noncoding	Benign
10	43100482	AGG	A	G43100484A	RET	NM_020975.6(RET):c.99_100del:p.Asp34fs	coding	Pathogenic
10	43102441	ACTT	A	T43102444C	RET	NM_020975.6(RET):c.440_442del:p.Phe147del	coding	Pathogenic
10	43102533	C	CG	A43102537G	RET	NM_020975.6(RET):c.532dup:p.Glu178fs	coding	Pathogenic
10	43104876	GCC	G	C43104880T	RET	NM_020975.6(RET):c.626-72_626-71del	noncoding	Benign
10	43104975	G	GCC	G43104980C	RET	NM_020975.6(RET):c.652_653dup:p.Asp219fs	coding	Pathogenic
10	43106515	ACGAGACCT	A	A43106518G	RET	NM_020975.6(RET):c.1010_1017del:p.Glu337fs	coding	Pathogenic
10	43111197	G	GC	T43111204C	RET	NM_020975.6(RET):c.1264-4dup	noncoding	Benign
10	43114499	GT	AA	G43114499A	RET	NM_020975.6(RET):c.1899_1900delinsAA:p.Cys634Ser	coding	Pathogenic
10	43114502	CC	GG	C43114502G	RET	NM_020975.6(RET):c.1902_1903inv:p.Cys634_Arg635delinsTrpGly	coding	Pathogenic
10	43126631	CCT	C	T43126635A	RET	NM_020975.6(RET):c.3100_3101del:p.Ser1034fs	coding	Pathogenic
10	44378544	C	CCT	C44378548T	CXCL12	NM_199168.4(CXCL12):c.*87_*88dup	coding	Benign
10	44384910	A	AGCCTCGCCAGGGCC	T44384925G	CXCL12	NM_199168.4(CXCL12):c.61+21_61+34dup	noncoding	Benign
10	47349011	AG	A	G47349013T	RBP3	NM_002900.3(RBP3):c.529del:p.Val177fs	coding	Pathogenic
10	47349381	CG	C	G47349385T	RBP3	NM_002900.3(RBP3):c.901del:p.Val301fs	coding	Pathogenic
10	47349761	TG	T	G47349763A	RBP3	NM_002900.3(RBP3):c.1279del:p.Asp427fs	coding	Pathogenic
10	47350165	T	TGGGCC	A47350171G	RBP3	NM_002900.3(RBP3):c.1682_1686dup:p.Thr563fs	coding	Pathogenic/Likely_pathogenic
10	47350566	TG	T	G47350570A	RBP3	NM_002900.3(RBP3):c.2086del:p.Asp696fs	coding	Pathogenic
10	47350707	CCA	C	C47350708G	RBP3	NM_002900.3(RBP3):c.2224_2225del:p.Gln742fs	coding	Pathogenic
10	47350914	TTCTG	T	G47350918T	RBP3	NM_002900.3(RBP3):c.2434_2437del:p.Val812fs	coding	Pathogenic
10	47351055	CACCATGCAGG	C	A47351059T	RBP3	NM_002900.3(RBP3):c.2575_2584del:p.Met859fs	coding	Pathogenic
10	47355449	CT	C	T47355450G	RBP3	NM_002900.3(RBP3):c.3320del:p.Leu1107fs	coding	Pathogenic
10	48405106	GAT	G	A48405127C	MAPK8	NM_001323329.2(MAPK8):c.252+126AT[10]	noncoding	Benign
10	48405106	G	GATATAT	C48405129A	MAPK8	NM_001323329.2(MAPK8):c.252+126AT[14]	noncoding	Benign
10	48405106	G	GATAT	C48405129A	MAPK8	NM_001323329.2(MAPK8):c.252+126AT[13]	noncoding	Benign
10	48405106	G	GAT	C48405129A	MAPK8	NM_001323329.2(MAPK8):c.252+126AT[12]	noncoding	Benign
10	48405121	A	ATG	A48405123G	MAPK8	NM_001323329.2(MAPK8):c.252+141_252+142insGT	noncoding	Benign
10	48425830	T	TAC	T48425832C	MAPK8	NM_001323329.2(MAPK8):c.689-57_689-56insCA	noncoding	Benign
10	48425834	A	AATACATT	C48425835A	MAPK8	NM_001323329.2(MAPK8):c.689-54_689-53insATACATT	noncoding	Benign
10	48425836	T	TTGTAAATG	A48425837T	MAPK8	NM_001323329.2(MAPK8):c.689-52_689-51insTGTAAATG	noncoding	Benign
10	49459233	TC	T	C49459235T	ERCC6	NC_000010.10:g.50667280del	coding	Pathogenic
10	49461463	T	TG	C49461467G	ERCC6	NM_000124.4(ERCC6):c.3871dup:p.Gln1291fs	coding	Pathogenic/Likely_pathogenic
10	49470243	CTT	C	T49470244G	ERCC6	NM_000124.4(ERCC6):c.3715_3716del:p.Lys1239fs	coding	Pathogenic
10	49470332	T	TA	G49470334A	ERCC6	NM_000124.4(ERCC6):c.3627dup:p.Lys1210Ter	coding	Pathogenic/Likely_pathogenic
10	49470367	T	TTC	C49470372T	ERCC6	NM_000124.4(ERCC6):c.3591_3592dup:p.Lys1198fs	coding	Pathogenic/Likely_pathogenic
10	49470394	CTA	C	A49470396G	ERCC6	NM_000124.4(ERCC6):c.3564_3565del:p.His1188fs	coding	Pathogenic
10	49470437	CC	AA	C49470437A	ERCC6	NM_000124.4(ERCC6):c.3522_3523delinsTT:p.Met1174_Glu1175delinsIleTer	coding	Pathogenic
10	49470439	AT	A	T49470442G	ERCC6	NM_000124.4(ERCC6):c.3520del:p.Met1174fs	coding	Pathogenic
10	49470495	G	GT	A49470497T	ERCC6	NM_000124.4(ERCC6):c.3464dup:p.Tyr1155Ter	coding	Pathogenic
10	49470588	AC	A	C49470589T	ERCC6	NM_000124.4(ERCC6):c.3371del:p.Ser1124fs	coding	Pathogenic
10	49470624	AT	A	T49470627G	ERCC6	NM_000124.4(ERCC6):c.3335del:p.Asn1112fs	coding	Pathogenic
10	49470847	CT	C	T49470852A	ERCC6	NM_000124.4(ERCC6):c.3112del:p.Arg1038fs	coding	Pathogenic
10	49470992	GT	G	T49470995C	ERCC6	NM_000124.4(ERCC6):c.3052del:p.Thr1018fs	coding	Pathogenic
10	49471093	AT	A	T49471096G	ERCC6	NM_000124.4(ERCC6):c.2951del:p.Asn984fs	coding	Pathogenic
10	49471122	TA	T	A49471129T	ERCC6	NM_000124.4(ERCC6):c.2925-3del	noncoding	Benign
10	49471122	T	TA	T49471130A	ERCC6	NM_000124.4(ERCC6):c.2925-9dup	noncoding	Benign
10	49472935	CTGGGTCATAGA	C	G49472938A	ERCC6	NM_000124.4(ERCC6):c.2792_2802del:p.Ile931fs	coding	Pathogenic
10	49472961	GC	G	C49472966G	ERCC6	NM_000124.4(ERCC6):c.2776del:p.Ala926fs	coding	Pathogenic
10	49478392	CA	C	A49478393T	ERCC6	NM_000124.4(ERCC6):c.2247del:p.Asp749fs	coding	Pathogenic
10	49478554	T	TA	G49478568A	ERCC6	NM_000124.4(ERCC6):c.2170-97dup	noncoding	Benign
10	49482539	A	AT	A49482558T	ERCC6	NM_000124.4(ERCC6):c.2169+130dup	noncoding	Benign
10	49482539	A	ATT	A49482558T	ERCC6	NM_000124.4(ERCC6):c.2169+130_2169+131dup	noncoding	Benign
10	49482539	A	ATTT	A49482558T	ERCC6	NM_000124.4(ERCC6):c.2169+130_2169+132dup	noncoding	Benign
10	49482762	G	GC	T49482765C	ERCC6	NM_000124.4(ERCC6):c.2093dup:p.Thr699fs	coding	Pathogenic
10	49482788	CAA	C	A49482790G	ERCC6	NM_000124.4(ERCC6):c.2066_2067del:p.Leu688_Phe689insTer	coding	Pathogenic
10	49483363	T	TGACA	C49483369A	ERCC6	NM_000124.4(ERCC6):c.1971_1974dup:p.Thr659fs	coding	Pathogenic
10	49493187	T	TA	C49493188A	ERCC6	NM_000124.4(ERCC6):c.1750_1751insT:p.Glu584fs	coding	Pathogenic
10	49505910	TG	T	G49505912C	ERCC6	NM_000124.4(ERCC6):c.1499del:p.Pro500fs	coding	Pathogenic
10	49505977	TTC	T	C49505981T	ERCC6	NM_000124.4(ERCC6):c.1431_1432del:p.Lys478fs	coding	Pathogenic
10	49505996	TCA	T	C49505997G	ERCC6	NM_000124.4(ERCC6):c.1412_1413del:p.Leu471fs	coding	Pathogenic
10	49524620	GC	G	C49524622T	ERCC6	NM_000124.4(ERCC6):c.809del:p.Gly270fs	coding	Pathogenic
10	49530725	T	TA	T49530727A	ERCC6	NM_000124.4(ERCC6):c.537dup:p.Asn180Ter	coding	Pathogenic
10	49532757	G	GC	T49532761C	ERCC6	NM_000124.4(ERCC6):c.207dup:p.Pro70fs	coding	Pathogenic/Likely_pathogenic
10	49532853	CA	C	A49532854C	ERCC6	NM_000124.4(ERCC6):c.111del:p.Asp38fs	coding	Pathogenic
10	49532876	GC	G	C49532878A	ERCC6	NM_000124.4(ERCC6):c.88del:p.Ala30fs	coding	Pathogenic
10	49532916	AGTCTTGCTCC	T	A49532916T	ERCC6	NM_000124.4(ERCC6):c.39_49delinsA:p.Glu14fs	coding	Pathogenic
10	49538889	GC	G	C49538892G	ERCC6	NM_000124.4(ERCC6):c.-15+72del	noncoding	Benign
10	49621861	AGAACCACATCTGATTAGTGCAG	A	G49621883C	CHAT	NM_020549.5(CHAT):c.699-214_699-193del	noncoding	Benign
10	49627623	GT	G	T49627625G	CHAT	NM_020549.5(CHAT):c.951del:p.Val318fs	coding	Pathogenic
10	49648726	T	TACAC	G49648759A	CHAT	NM_020549.5(CHAT):c.1382+120AC[18]	noncoding	Benign
10	49649592	GGA	G	G49649593A	CHAT	NM_020549.5(CHAT):c.1468_1469del:p.Glu490fs	coding	Pathogenic
10	49649866	AT	A	T49649894C	CHAT	NM_020549.5(CHAT):c.1511+258del	noncoding	Benign
10	49649866	ATT	A	T49649893C	CHAT	NM_020549.5(CHAT):c.1511+257_1511+258del	noncoding	Benign
10	49649866	ATTT	A	T49649892C	CHAT	NM_020549.5(CHAT):c.1511+256_1511+258del	noncoding	Benign
10	49649866	ATTTTTTTTTTT	A	T49649884C	CHAT	NM_020549.5(CHAT):c.1511+248_1511+258del	noncoding	Benign
10	49649866	ATTTTTTTTTTTTT	A	T49649882C	CHAT	NM_020549.5(CHAT):c.1511+246_1511+258del	noncoding	Benign
10	49649946	A	AG	A49649952G	CHAT	NM_020549.5(CHAT):c.1511+315dup	noncoding	Benign
10	49651991	A	AG	C49651993G	CHAT	NM_020549.5(CHAT):c.1620dup:p.Leu541fs	coding	Pathogenic
10	49654824	AT	A	T49654832G	CHAT	NM_020549.5(CHAT):c.1635-263del	noncoding	Benign
10	49662788	GC	G	C49662792G	CHAT	NM_020549.5(CHAT):c.1977+10del	noncoding	Benign
10	50990867	TC	T	C50990877A	PRKG1	Single_allele	noncoding	Benign
10	50991019	TA	T	A50991020G	PRKG1	NM_001098512.3(PRKG1):c.-359del	noncoding	Benign
10	50991310	A	AGCC	C50991344G	PRKG1	NM_001098512.3(PRKG1):c.-68GCC[12]	noncoding	Benign
10	50991310	A	AGCCGCCGCCGCC	C50991344G	PRKG1	NM_001098512.3(PRKG1):c.-68GCC[15]	noncoding	Benign
10	50991310	AGCCGCCGCC	A	G50991335C	PRKG1	NM_001098512.3(PRKG1):c.-68GCC[8]	noncoding	Benign
10	50991328	C	CGCT	C50991331T	PRKG1	NM_001098512.3(PRKG1):c.-49_-48insTGC	noncoding	Benign
10	51152993	TG	T	G51152994T	PRKG1	NM_006258.4(PRKG1):c.312-170del	noncoding	Benign
10	51153489	TTAAC	T	C51153493T	PRKG1	NM_006258.4(PRKG1):c.478+163_478+166del	noncoding	Benign
10	51907376	A	AT	G51907390T	PRKG1	NM_006258.4(PRKG1):c.699-118dup	noncoding	Benign
10	51907376	AT	A	T51907389G	PRKG1	NM_006258.4(PRKG1):c.699-118del	noncoding	Benign
10	52161972	CT	C	T52161978C	PRKG1	NM_006258.4(PRKG1):c.1076+15del	noncoding	Benign
10	52294153	A	AG	A52294154G	PRKG1	NM_006258.4(PRKG1):c.*253_*254insG	noncoding	Benign
10	53806431	G	GTCTC	T53806437C	PCDH15	NM_001384140.1(PCDH15):c.*144GA[4]	noncoding	Benign
10	53822448	GAGGAGGAGA	G	G53822459A	PCDH15	NM_033056.4(PCDH15):c.5260TCTCCTCCT[1]:p.1754SPP[1]	coding	Benign/Likely_benign
10	53822891	G	GTGTT	T53822897G	PCDH15	NM_033056.4(PCDH15):c.4831_4834dup:p.Thr1612fs	coding	Benign/Likely_benign
10	53823010	C	CCTCTGAATCTTTTCTCT	T53823028C	PCDH15	NM_033056.4(PCDH15):c.4699_4715dup:p.Leu1573fs	coding	Pathogenic
10	53823037	C	CAGAG	C53823043G	PCDH15	NM_033056.4(PCDH15):c.4685_4688dup:p.Arg1564fs	coding	Pathogenic
10	53823078	C	CTACAAAATCTGTTCTCTGTGAAATGTCTGAAT	T53823112A	PCDH15	NM_033056.4(PCDH15):c.4616_4647dup:p.Asp1550delinsIleGlnThrPheHisArgGluGlnIleLeuTer	coding	Pathogenic
10	53823081	C	CA	T53823086A	PCDH15	NM_033056.4(PCDH15):c.4644dup:p.Val1549fs	coding	Pathogenic
10	53823125	C	CTT	A53823128T	PCDH15	NM_033056.4(PCDH15):c.4599_4600dup:p.Ser1534fs	coding	Pathogenic
10	53823125	C	CTTATG	T53823133A	PCDH15	NM_033056.4(PCDH15):c.4596_4600dup:p.Ser1534delinsThrTer	coding	Pathogenic
10	53823156	C	CACTT	A53823162C	PCDH15	NM_033056.4(PCDH15):c.4566_4569dup:p.Ala1524fs	coding	Pathogenic
10	53823171	C	CATCAGATAGAAATGTGAATTTT	C53823194A	PCDH15	NM_033056.4(PCDH15):c.4533_4554dup:p.Glu1519delinsLysIleHisIleSerIleTer	coding	Pathogenic
10	53823199	A	AGACT	T53823204G	PCDH15	NM_033056.4(PCDH15):c.4523_4526dup:p.Ala1510fs	coding	Pathogenic
10	53823307	T	TGAGACTGAGTTATTTC	C53823324G	PCDH15	NM_033056.4(PCDH15):c.4403_4418dup:p.Ser1473_Glu1474insLysTer	coding	Pathogenic
10	53823312	CTGAGT	C	G53823314A	PCDH15	NM_033056.4(PCDH15):c.4409_4413del:p.Asn1470fs	coding	Pathogenic/Likely_pathogenic
10	53823313	T	TGA	T53823317A	PCDH15	NM_033056.4(PCDH15):c.4411_4412dup:p.Val1472fs	coding	Pathogenic
10	53823316	G	GTTAT	C53823323A	PCDH15	NM_033056.4(PCDH15):c.4406_4409dup:p.Asn1470delinsLysTer	coding	Pathogenic
10	53823353	A	AAAAG	C53823359A	PCDH15	NM_033056.4(PCDH15):c.4369_4372dup:p.Phe1458fs	coding	Pathogenic
10	53825270	CA	C	A53825278G	PCDH15	NM_001384140.1(PCDH15):c.4367+2122del	noncoding	Benign
10	53825406	TA	T	A53825411T	PCDH15	NM_001384140.1(PCDH15):c.4367+1986del	noncoding	Benign
10	53827407	A	AAGTT	C53827412A	PCDH15	NM_001384140.1(PCDH15):c.4349_4352dup:p.Gly1452fs	coding	Pathogenic
10	53827485	TG	T	G53827486C	PCDH15	NM_001384140.1(PCDH15):c.4274del:p.Ala1425fs	coding	Pathogenic
10	53827639	CA	C	A53827640G	PCDH15	NM_001384140.1(PCDH15):c.4212-92del	noncoding	Benign
10	53831182	TAGAC	T	C53831190T	PCDH15	NM_001384140.1(PCDH15):c.4202+129_4202+132del	noncoding	Benign
10	53831388	A	AG	C53831391G	PCDH15	NM_001384140.1(PCDH15):c.4128dup:p.Leu1378fs	coding	Pathogenic
10	53831700	AAAG	A	A53831705G	PCDH15	NM_001384140.1(PCDH15):c.3984-170_3984-168del	noncoding	Benign
10	53840179	A	ATTG	T53840182G	PCDH15	NM_001384140.1(PCDH15):c.3983+140_3983+141insAAC	noncoding	Benign
10	53840306	C	CA	G53840312A	PCDH15	NM_001384140.1(PCDH15):c.3983+13dup	noncoding	Benign
10	53840321	T	TAAAAAGCTCATTTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A53840337G	PCDH15	NM_001384140.1(PCDH15):c.3981_3982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAAATGAGCTTTTT:p.Lys1328delinsPhePhePhePhePhePheXaaXaaXaaXaaArgTyrIleSerGlnCysTyrProSerProLeuProArgProHisHisSerProGlnLysTer	coding	Pathogenic
10	53857084	GT	G	T53857085A	PCDH15	NM_001384140.1(PCDH15):c.3806+90del	noncoding	Benign
10	53857191	TC	T	C53857192T	PCDH15	NM_001384140.1(PCDH15):c.3789del:p.Lys1263_Ile1264insTer	coding	Pathogenic
10	53857223	GA	G	A53857226C	PCDH15	NM_001384140.1(PCDH15):c.3757del:p.Ser1253fs	coding	Pathogenic
10	53866446	A	AATAT	G53866469A	PCDH15	NM_001384140.1(PCDH15):c.3717+174AT[13]	noncoding	Benign
10	53866446	A	AAT	G53866469A	PCDH15	NM_001384140.1(PCDH15):c.3717+174AT[12]	noncoding	Benign
10	53866446	AAT	A	A53866467G	PCDH15	NM_001384140.1(PCDH15):c.3717+174AT[10]	noncoding	Benign
10	53866690	AAT	A	T53866692A	PCDH15	NM_001384140.1(PCDH15):c.3667_3668del:p.Ile1223fs	coding	Pathogenic
10	53866870	G	GAA	G53866880A	PCDH15	NM_001384140.1(PCDH15):c.3502-22_3502-21dup	noncoding	Benign
10	53903302	AT	A	T53903308C	PCDH15	NM_001384140.1(PCDH15):c.3441del:p.Lys1147fs	coding	Pathogenic
10	53903318	T	TG	A53903324G	PCDH15	NM_001384140.1(PCDH15):c.3425dup:p.Val1143fs	coding	Pathogenic
10	53961837	GGGTAA	G	T53961840A	PCDH15	NM_001384140.1(PCDH15):c.2919_2923del:p.Tyr974fs	coding	Pathogenic
10	53995669	C	CATAAA	C53995675A	PCDH15	NM_001384140.1(PCDH15):c.2843_2847dup:p.Ala950fs	coding	Pathogenic
10	53995691	AC	A	C53995694T	PCDH15	NM_001384140.1(PCDH15):c.2825del:p.Gly942fs	coding	Pathogenic/Likely_pathogenic
10	53995760	CA	C	A53995761T	PCDH15	NM_001384140.1(PCDH15):c.2756del:p.Met919fs	coding	Pathogenic
10	54020291	TG	T	G54020292C	PCDH15	NM_001384140.1(PCDH15):c.2651del:p.Ala884fs	coding	Pathogenic
10	54020660	C	CAG	G54020677A	PCDH15	NM_001384140.1(PCDH15):c.2527-260CT[9]	noncoding	Benign
10	54023096	TG	T	G54023097C	PCDH15	NM_001384140.1(PCDH15):c.2321del:p.Ala774fs	coding	Pathogenic
10	54023150	CA	C	A54023153C	PCDH15	NM_001384140.1(PCDH15):c.2267del:p.Leu756fs	coding	Pathogenic
10	54023211	C	CA	C54023219A	PCDH15	NM_001384140.1(PCDH15):c.2221-15dup	noncoding	Benign
10	54066820	AG	A	G54066822A	PCDH15	NM_001384140.1(PCDH15):c.2156del:p.Pro719fs	coding	Pathogenic
10	54066851	T	TG	C54066852G	PCDH15	NM_001384140.1(PCDH15):c.2125_2126insC:p.Asp709fs	coding	Pathogenic
10	54079333	C	CT	A54079334T	PCDH15	NM_001384140.1(PCDH15):c.2088_2089insA:p.Gly697fs	coding	Pathogenic
10	54079377	TCAGTGCTTTCCCTGTC	T	G54079391A	PCDH15	NM_001384140.1(PCDH15):c.2029_2044del:p.Asp677fs	coding	Pathogenic
10	54079377	T	TCAGTGCTTTCCCTGTC	A54079407G	PCDH15	NM_001384140.1(PCDH15):c.2029_2044dup:p.Asp682delinsGlyGlnGlyLysHisTer	coding	Pathogenic
10	54090002	ACT	A	C54090007G	PCDH15	NM_001384140.1(PCDH15):c.1977_1978del:p.Arg659fs	coding	Pathogenic
10	54132840	T	TACACAC	C54132863A	PCDH15	NM_001384140.1(PCDH15):c.1917+13GT[14]	noncoding	Benign
10	54132840	T	TACAC	C54132863A	PCDH15	NM_001384140.1(PCDH15):c.1917+13GT[13]	noncoding	Benign
10	54132958	TTTGA	T	G54132961A	PCDH15	NM_001384140.1(PCDH15):c.1830_1833del:p.Asn610fs	coding	Pathogenic/Likely_pathogenic
10	54153302	G	GA	T54153307A	PCDH15	NM_001384140.1(PCDH15):c.1591-10dup	noncoding	Benign
10	54183504	AG	A	G54183507A	PCDH15	NM_001384140.1(PCDH15):c.1529del:p.Pro510fs	coding	Pathogenic
10	54185172	GT	G	T54185174G	PCDH15	NM_001384140.1(PCDH15):c.1401del:p.Gln467fs	coding	Pathogenic/Likely_pathogenic
10	54185215	GGT	G	T54185217A	PCDH15	NM_001384140.1(PCDH15):c.1357_1358del:p.Thr453fs	coding	Pathogenic
10	54185260	GT	G	T54185261C	PCDH15	NM_001384140.1(PCDH15):c.1313del:p.Asp438fs	coding	Pathogenic
10	54189504	AT	A	T54189511A	PCDH15	NM_001384140.1(PCDH15):c.1306-4237del	noncoding	Benign
10	54195812	AC	A	C54195813T	PCDH15	NM_001384140.1(PCDH15):c.1175del:p.Ser392fs	coding	Pathogenic
10	54214034	AATCC	A	A54214035T	PCDH15	NM_001384140.1(PCDH15):c.996_999del:p.Glu332fs	coding	Pathogenic
10	54214252	ATGTT	A	T54214255G	PCDH15	NM_001384140.1(PCDH15):c.986-208_986-205del	noncoding	Benign
10	54236840	AGGATTCCT	A	A54236843C	PCDH15	NM_001384140.1(PCDH15):c.960_967del:p.Gly321fs	coding	Pathogenic
10	54236934	GAA	G	A54236942T	PCDH15	NM_001384140.1(PCDH15):c.877-5_877-4del	noncoding	Benign
10	54329682	GAA	G	A54329683T	PCDH15	NM_001384140.1(PCDH15):c.617_618del:p.Ile206fs	coding	Pathogenic
10	54346397	C	CT	A54346399T	PCDH15	NM_001384140.1(PCDH15):c.561dup:p.Glu188fs	coding	Pathogenic
10	54346492	GA	G	A54346498G	PCDH15	NM_001384140.1(PCDH15):c.475-9del	noncoding	Benign
10	54346492	G	GA	G54346499A	PCDH15	NM_001384140.1(PCDH15):c.475-14dup	noncoding	Benign
10	54369163	G	GAGTTGTCA	T54369172A	PCDH15	NM_001384140.1(PCDH15):c.423_430dup:p.Ser144fs	coding	Pathogenic
10	54369234	GCA	G	A54369236T	PCDH15	NM_001384140.1(PCDH15):c.358_359del:p.Cys120fs	coding	Pathogenic/Likely_pathogenic
10	54527829	TC	T	C54527830A	PCDH15	NM_001384140.1(PCDH15):c.139del:p.Asp47fs	coding	Pathogenic/Likely_pathogenic
10	54664178	C	CA	T54664180A	PCDH15	NM_001384140.1(PCDH15):c.84dup:p.Asp29Ter	coding	Pathogenic
10	54664201	AAG	A	A54664208C	PCDH15	NM_001384140.1(PCDH15):c.60_61del:p.Leu20_Phe21insTer	coding	Pathogenic
10	58386082	GTC	G	C58386086A	TFAM	NM_003201.3(TFAM):c.102-134_102-133del	noncoding	Benign
10	58388655	G	GT	A58388662T	TFAM	NM_003201.3(TFAM):c.292-9dup	noncoding	Benign
10	58513234	TC	T	C58513236G	BICC1	NM_001080512.3(BICC1):c.93del:p.Glu32fs	coding	Pathogenic
10	58513429	ACGGC	A	C58513437T	BICC1	NM_001080512.3(BICC1):c.190+104_190+107del	noncoding	Benign
10	60042819	T	TC	A60042822C	ANK3	NM_020987.5(ANK3):c.13066-62dup	noncoding	Benign
10	60075036	C	CTA	C60075039T	ANK3	NM_020987.5(ANK3):c.5843_5844dup:p.Glu1949Ter	coding	Pathogenic
10	60080627	GA	G	A60080638G	ANK3	NM_020987.5(ANK3):c.4351-10del	noncoding	Benign
10	60080627	G	GAAA	G60080639A	ANK3	NM_020987.5(ANK3):c.4351-12_4351-10dup	noncoding	Benign
10	60080627	G	GAA	G60080639A	ANK3	NM_020987.5(ANK3):c.4351-11_4351-10dup	noncoding	Benign
10	60080627	G	GA	G60080639A	ANK3	NM_020987.5(ANK3):c.4351-10dup	noncoding	Benign
10	60196628	GA	G	A60196640C	ANK3	NM_020987.5(ANK3):c.1690-4del	noncoding	Benign
10	60389445	AC	A	C60389447G	ANK3	NM_020987.5(ANK3):c.93del:p.Ser32fs	coding	Pathogenic
10	62376951	CAG	C	A62376952G	ZNF365	NM_014951.3(ZNF365):c.743+16_743+17del	noncoding	Benign
10	63189455	GA	G	A63189461C	JMJD1C	NM_032776.3(JMJD1C):c.6292-10del	noncoding	Benign
10	63206573	TAAAAC	T	A63206577G	JMJD1C	NM_032776.3(JMJD1C):c.5074+17_5074+21del	noncoding	Benign
10	63215293	CCTT	C	T63215295A	JMJD1C	NM_032776.3(JMJD1C):c.982_984del:p.Lys328del	coding	Benign
10	63217334	T	TA	C63217343A	JMJD1C	NM_032776.3(JMJD1C):c.554-11dup	noncoding	Benign
10	63264772	GA	G	A63264782T	JMJD1C	NM_032776.3(JMJD1C):c.334-9del	noncoding	Benign
10	65920634	G	GA	G65920641A	CTNNA3	NM_013266.4(CTNNA3):c.2401-23dup	noncoding	Benign/Likely_benign
10	66280828	A	AT	C66280839T	CTNNA3	NM_013266.4(CTNNA3):c.1733-217dup	noncoding	Benign
10	66621591	C	CA	G66621605A	CTNNA3	NM_013266.4(CTNNA3):c.1374+88dup	noncoding	Benign
10	66775324	C	CT	C66775332T	CTNNA3	NM_013266.4(CTNNA3):c.1128+113dup	noncoding	Benign
10	67607089	G	GT	A67607091T	CTNNA3	NM_013266.4(CTNNA3):c.100-41dup	noncoding	Benign
10	67647146	TTA	T	A67647176T	CTNNA3	NM_013266.4(CTNNA3):c.99+239TA[14]	noncoding	Benign
10	67647146	TTATA	T	A67647174T	CTNNA3	NM_013266.4(CTNNA3):c.99+239TA[13]	noncoding	Benign
10	67647146	TTATATATATATA	T	A67647166T	CTNNA3	NM_013266.4(CTNNA3):c.99+239TA[9]	noncoding	Benign
10	67647146	TTATATATATATATA	T	A67647164T	CTNNA3	NM_013266.4(CTNNA3):c.99+239TA[8]	noncoding	Benign
10	67647146	T	TTA	T67647178A	CTNNA3	NM_013266.4(CTNNA3):c.99+239TA[16]	noncoding	Benign
10	67647146	T	TTATATATA	T67647178A	CTNNA3	NM_013266.4(CTNNA3):c.99+239TA[19]	noncoding	Benign
10	67823399	C	CA	T67823405A	DNAJC12	NM_021800.3(DNAJC12):c.79-8dup	noncoding	Benign
10	68114347	C	CT	G68114362T	MYPN	NM_032578.4(MYPN):c.-2+4638dup	noncoding	Benign
10	68136270	CCTTTT	C	T68136275A	MYPN	NM_032578.4(MYPN):c.903-6665_903-6661del	noncoding	Benign
10	68142878	GCTGT	G	G68142881A	MYPN	NM_032578.4(MYPN):c.903-59_903-56del	noncoding	Benign
10	68158685	CACTT	C	C68158687T	MYPN	NM_032578.4(MYPN):c.1459+60_1459+63del	noncoding	Benign
10	68161515	C	CA	G68161532A	MYPN	NM_032578.4(MYPN):c.1460-198dup	noncoding	Benign
10	68166409	AC	A	C68166415A	MYPN	NM_032578.4(MYPN):c.1722del:p.Lys575fs	coding	Pathogenic
10	68166602	A	AC	A68166604C	MYPN	NM_032578.4(MYPN):c.1910dup:p.Thr639fs	coding	Pathogenic
10	68175131	CA	C	A68175141T	MYPN	NM_032578.4(MYPN):c.2565-182del	noncoding	Benign
10	68175477	TTAG	T	T68175478A	MYPN	NM_032578.4(MYPN):c.2703+17_2703+19del	noncoding	Benign
10	68194493	TC	T	C68194494A	MYPN	NM_032578.4(MYPN):c.3057del:p.Met1020fs	coding	Pathogenic
10	68195789	GC	G	C68195790T	MYPN	NM_032578.4(MYPN):c.3158+258del	noncoding	Benign
10	68197241	T	TA	C68197242A	MYPN	NM_032578.4(MYPN):c.3159-111_3159-110insA	noncoding	Benign
10	68197242	C	CAA	T68197255A	MYPN	NM_032578.4(MYPN):c.3159-99_3159-98dup	noncoding	Benign
10	68197242	C	CA	T68197255A	MYPN	NM_032578.4(MYPN):c.3159-98dup	noncoding	Benign
10	68199483	ACC	A	C68199485A	MYPN	NM_032578.4(MYPN):c.3403_3404del:p.Pro1135fs	coding	Pathogenic
10	68247362	AAGAAGGTTGTAACTGCTAATTCCTGACACGGAAGCATGAAAACCCTTGGAAGCTTAGAGGAGGTTTTGGTAGATCCTGTGATATGTATCATAAGCTAAAGCAATGCTGCTGAGGCTAACTCCTGCAGAAGTGAGGATGGGTTATGTCATGGCCACCCATGGGGGATGATTTCCATGCCAGAGAAGAGAAGGAAATGAATTGGCCTTTACAAGAAATTCTAGCTTCAGCTCAGCTACAAAGTTACCCAGCCTTTGATGATATCATATAGAAGGTCTCCCTATTTGAGGGAGGTAGGAGAAAGATTTCAATCTCTTGGTCAGAATTTTGCCCAGCTTCAGAGTTGTCACAGATAAATGGACCCAATCTCATGTTCAGATCCTGATGAAGCCTTCTGGAGAAGTCAAAGCCAGAGCCTTCCAATTTTGAATCAGTGCCCAAACATGAATTACAATGACGGATATTATGGAAGAAGCCATTCCCAGTGATAACTGTGGGAAATCCATGGCCTGCCTCACTGTAGGAGTAACAGAGCCAAGACTAATTTCCAGCTCATCACTGAAGGCAATATTGTGGTTCATAAAGAAAAGGAAGGTACTTAGCTGTACAAGTTCGAGCAGCTTAGATGAGCCTGAAGCCTTTTTTCTGATACAGTGGACCTTTGGCATTTGAAGAATTAACATTCCAGTGTCACCTCTTCTCGAGGAAGCCACTTGGGTATTTTGGGTAGGCATAAATTTCAATCCCAGATTGCCAGACATGGATGCAAATCACTTAGCCAAGGAACAGATCCAGCTGGCTAACCACCTGGCACCTGCATCCCCGTGCAGCCTTACACTCTTGTGCCTTACAGCTCAGGTGACCTTTATGAGGAAAATGTTACATTATGATGATATATTTTTTTTTTGAGACGGAGTTTCACTCTTGTTACCCAGACTGGAGTGTAATGGCGATCTCAGCTCACCGCAACCTCCACCTCCTGCCTCAGCCTCCCGAGTAGCTGCGATTACAAGAATGTGCCACCACGCCCCGCTAACTTTGTATTTTTAGTAGAAACAGGGTTTTTTCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCAGGCAAGGTAGTTCACGCCTGTAATCCCAACATTTTGGGAGGCCGAGGTAGGTGGATCACAAGGCCAGGAGTTCAAGATCAGCCTGGACAACGTAGTGAAACCTTGTCTCTATTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCATCACTACACTTCAGCCTGGGTGACACAGCGAGACTCTGTCTCAAAAAAGAAAAAAAGAAAGAAAAAGAAAAGAAAAAAGAAAAAAAGAGAATCCAGAGGTTTTGGGTTAAACCATTTGCAAACATCACAAGCCTACTGTACAAAACTCATTCTCACTCTTTTTTTTTTTTAATCTTTGTTGGGGAATAGTATCACTCAAGCATCTTTCAGAAGCAAAAAGAAAAAAGAAAATAACCATTCTTCGGTTAATGTATTTATTTATTTTTATTTTTTTATTTTGTTTGAGACGGAGTCTTACTCTGTCACCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCACTGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGTTGCACTCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAATTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACGCCCAGCCTCTTTGGTTAATTTAAGCAAAAAAGGGGATTTATGAGAAAGATGCTGGGAGTAGCTCACTAAATCAAGTGAAGCTGAAACCATCAATTCTCTGTCAGGACGTAAATGAAGGTGACCTGGGACCTTGGGAGCTATTGCTCCTGGCACTGGAGCACTATCATGAGACGACTCTGCACCAACTGACTTGTCTATTTCAGTCACATTTTCAAATACCCAGGAGAGAGAACATAGCTGGCCAGCTTGACAGGTGTCTCTAGCTTCGGCCAGAGAACAGGACACGGAGCACCAGCATGGTCACTGGGAGATCAGTTGTGAGCCAGAAGCCACTGCAGGTTGTGTCTACTAGAGAAAGAAGGACCTGCTAGAGAAAGAGGGATCCTGCCCCAATGATGGAAGCCAGCTGAAGCTGTAGATTAACTAAAAAAAAAAAAAAAAAGTAATCAAGCATCTTGCAGAAGCTGTGATTCTGGTTTGTAGCACAGTCCTCCCTACCGCTGCTGCTCTCTACTCATCTGGTAGAACTGGCCCTTCCTCTCCCATGCTCCTCACTCAGCCCCATGCAGGGGCAGAGGCAGAGGTCTTCAAGAACTCCCATTCTCTTGGCGTCCATTGCAATGAAACTACCTCTGATGGAAGAGAGGAGACCTTGTGGTACAGGCCAGGCAGCCCACACTCCATCAATGTCTGGCCCTGAAAAAAGCAACCCCATCCCCAGCTACATGAAAGCTTTTCTCCCACATGGATCATCACTTGATCTTGCTTATCCATCTCTCTTGGGAATGATCCACCTGAGAAATATGACAGAAGCCATTGCCATAGCTGTTGCCAGGTACCCCAAGTTCTGTTTCTGATGGGACCCGGGAATTGGCATGAAGTGCTTCCGGAGCAATAACCCATTCATCTCAGGGTGAATCAAAGTACAGCATGATGGCTGGATCCTCATCTCTTTGATGAAAAACAAGGAAGTTTAACAAGTCAGAGCAAGGGAGAAATAAACAAGTTAAAGAATTTTCATACAAATTTAAGACTATGGAGTTCAATTGTAAAAATGTTAAAAGTTGAAGGTTTTAAAACTAGCACTACTACTTCAACACTACTGTTCCTGCCTATTTTAACAGGCCTATCCTATGGCTGGAATTATTATTATCATTATTGTCATCTTTAACACCCAAGGTTTATGAAAAAGTGCATTAATGTACCAGGCACTATATTAAGCCCCTTCAACATATCATCTTACCTCATCCTTTCAGCAGCTCAGTGAAGGGGGTATATTATCATACCCATTTACAGATGAGGAAAGCAAGTTCCAGGGAGGTTAGGAAACTTGCCCTACATACCTTTTGCTGGTGAGTCGTGGAACCTGGATTTGCCTGACTGCAGTGCACAACCTCTTAACTGCTCTAAAATCTTATGTAAAGAAAATCTTATGTAACTACTACAAAATCTTTTATGTAACTACTACAAAATCTTATGTAAAGAAAAACGGGTCTGCTTAAAATGGAGTTGGCACATTGAACATAATTGAACATAATGATTCAATGTTGCTACATGCAGAGGAACCTCCATGTCTCCCTCAGGCTAGAGACAATGTGGTAAGGCATTTGGGGCTTACACGTATTGCACTGACAATCAAATCTCCAGGCCCTGGATAAATAATGGCTAACCTCATCCTTACTCTGTCTTAGCATGACAGCCAGGCTCAACACTAACCCCTAGTAAACAGACTCTTCAATTCAACTTATCAATGCACTGCGAAGATGTCCGACTTCATTGCAACAATCCTGGGAGGATGCTCTGAGCTCTGCCCTGCCCATTAGAGGCTGTAAGTTTGTGCAAATAACCATAAAATTAAACCCACCCAGGGAGGGCCATTGATTTCCAATTGGCACAGTTTGCCAGATGCTGTTTGGTCTAAGAACTGCCTTGACCTCTAGTAGTGACGCCGCCTGCCCTTGGCTTTGCGGGGTGTGTTCCCAGCAGGGAAGGCCTCTCCACTAATGCTTGCTACTGGAACTTGGGCTGAAAATGTGGTGGGTTCCCCATATGTTGCAGGGGAGAGGCCAGCCACACCTGGCGTTGGATTCAACCTCTTATCCAACCCTGGGGCTGAAGCCACCCCCAGGAGATTACAGACGCTCCCACCCCCAACTAATTAAATAGGTGGCCTCCTGCTGTTAAAAGGGAATGAGGGCGGAAAAACAGAGGATGCCTGATTTAACTAGGACCTGGGTAAGTAGCTTACCAGCCAGACCCAGAAATCACCGATGCATGCCTAAGCAGTCTCTAATGGGTCAGGGTGGTTCTATGCCTGAGATCTGGAGTTCTGCTTATTCTCAGCTTCCTTTGTACTTTCAAACCTGTAGTCCAAAACATTCATCATGGAAGCTTTACAAATTATTAAAAATAATATTGTTCTATTAATGAGTATATCTTATACAGCTATTATTACACACCAATCCTTGTGTTCAAACATTGGAATAAAGTGACTATTCAAAGACATTATTTGTTTCTTGTAGTACAACCTGAAGACAGTTCTACCCCCTTCCACACACACACCCACTCGCACACACACACAGAGAGTAGGCTTCTGAATGCAAAGCAAAGTGTTTACCTAAGTTACCAGTGCTAAATCTAAATATCCATGCAATTATAAATTTAGATGGAAACTAAAATTGTGTTTCCAATTAAGGAAAGAAACCCCTTAGACTTTTTCAGTTCAGCCTAACAAGCAAGTTACTAATTGTTTCAGTTTTGGTTTTGCTACAAATCATTTAGAAGGAAAGAGGATCTGAGGTGCAAAGAGGAAGGCAATTGTAATAATGGGAAATTGGACTAAATTAAAATGATCCTAAGTCACAGCACAACTAGGCCTCTTTGCCACCAACTTTTGACATTCTAATTAGGGCAAATGATTATGCAAATCCAGTCAGTCGCTCTTTTCCCCCCAAGCTGAAGTGCTTGTGATTGTTCAAGTGAGGACTGTTGGTGGCGTAATTAAAGCTCTCCTAAAAATTAATTGAGAATCAGAGGACAGCCTCCAAAGATGCCCTAATTTGTGGGCAGCCCAGCACAGCTGTCCTTTTGTCCTGCCTGCCACCAGGACGCCTCGAGTTTCCCCATCAAGTATAATAGAATGTGACACTTGAGGTGTTCTCAAGCCTTGGTCCTCATGAGTGGAGTGGAGGACAGGACAGCAGGAGTCCAGCACACCTAGGTCACCTCCTTCTGGGCATGTTAGCTGAGGAAACAGGGTTGGAGGGTGAACCCAAACATGGAGCACAGAGCACCTGAGTTTGGGGGCACCTATGAAATAAAATTGATCATGGGTTGATAAGCATTGAAACTGCATGACATGTACTTGGTTGGTTGGTGGCGGGGTAGGGTAAGTATAGTAATTTGCTTTGCTTTTGTATATGTTTAAAATATTAATTTTTTAAAATTAATGCATGCAATGCCAAAAATAGCATCTGTTATGGAGAGAAAGTTAATAGCAAAAGTCAGCTTTTGGTTATCTTTTAATGGGGCAGAGTTCTGGAGACACTAATCTTTAAAAGTGGGTATACTGTTCTATTACTTCTCCTTAATCACCTCTCATTACATGAACAACACATCCCCAGATCTGGCCCTTACTCTTCTCAGTTTAGCCCTAACGCTTGGAAGAACAAAGACTGAGTGGCTAGGAAAGAAACCGAACCAAGTGAGAGGCAGAAGAGCTCTATGTGGGGGAGAAAAGTAAGAGAGATCCCCAGGTAATCCAGCCAGAGGATAACTGAGAGCTGACTGTGAATTACTTCTATGTCATAAAAACCCAATACTATCCTATCTGACTTTAAAAGAAAAATAATTTACATAAAGCTCCTAAATTAAAAAAATAAACAGTTCCAGAAAACCAAGGGGCAAACTCTCTACAGAGTAACAAGCTCCCCGGGACAGCAATGAGTAAGAATGCCGAGGGAGAAGCAGTCGATAGTTTCAGCTCTGTAGGTGGAAGTTTTTAAATCTGGGGAGCACCTTGGCTGTAGGAATCATACCACCGGGTAGCTGCCGGCCTTGGAGATCACTCATCTTCCCTGGTGCAGCATGATGCTTTTTTCTTTATCTTTTAGGAGTATCCATGACTGGGGTAATTAATTAGCTCATAAAAAGCTGCTCCAACCAGGCTGTGCCCAGTGTTTCCTAGCTTTGTTAGGAAAACTTGAGAGAATCAGTGTGGCTGAATTAACTGGTCTTCAGGTAATAACTAAATCAAAGATGTCTTGGGTACCCTGGGAAGCTGGAGTCTCCTCTTTCCTGTGAATCAGTCAGCTCAAGATTGATGAAGGGCTGCTAAGGTCAGGCTTAGAAACACAAAACCATCTGCCAACTCTCTAGGGCTGGTATCTGCAGTAGAGCAATTTTAGAAGAACAGGTGTTCACTTTTAACTTACCTCTTCTTTTCTTTTATGCTGAAATCGTGATTTTTAGCTAGAAAGTACCTCCAGTTGGTTGATGAGATACACAGACTGTCTACTGTAACTTAAAATAACCTGGCCCAAAGGTATAGAGATAACTTCAGCTGACTATCACCCAAAGTCATAGGCCATGCATCCCTGGCAGTGGCCACTCTGGCTTCCCC	A	G68247368T	ATOH7	nsv1067883	noncoding	Pathogenic
10	68415205	CA	C	A68415215T	DNA2	NM_001080449.3(DNA2):c.3115-99del	noncoding	Benign
10	68415275	CT	C	T68415291C	DNA2	NM_001080449.3(DNA2):c.3115-169del	noncoding	Benign
10	68419469	G	GCA	G68419488C	DNA2	NM_001080449.3(DNA2):c.2788-274TG[10]	noncoding	Benign
10	68422211	A	AT	A68422223T	DNA2	NM_001080449.3(DNA2):c.2697+13dup	noncoding	Benign
10	68422940	GT	G	T68422944G	DNA2	NM_001080449.3(DNA2):c.2209-51del	noncoding	Benign
10	68423172	TTTTG	T	G68423192A	DNA2	NM_001080449.3(DNA2):c.2209-302CAAA[4]	noncoding	Benign
10	68437010	CCTGT	C	G68437013A	DNA2	NM_001080449.3(DNA2):c.1644_1647del:p.Asp548fs	noncoding	Pathogenic/Likely_pathogenic
10	68444725	CA	C	A68444742G	DNA2	NM_001080449.3(DNA2):c.1220+195del	noncoding	Benign
10	68444725	C	CA	G68444743A	DNA2	NM_001080449.3(DNA2):c.1220+179dup	noncoding	Benign
10	68446163	C	CA	C68446172A	DNA2	NM_001080449.3(DNA2):c.1057+125dup	noncoding	Benign
10	68446276	T	TA	C68446287A	DNA2	NM_001080449.3(DNA2):c.1057+19dup	noncoding	Benign
10	68449973	CA	C	A68449991G	DNA2	NM_001080449.3(DNA2):c.939+54del	noncoding	Benign
10	68449973	C	CA	G68449992A	DNA2	NM_001080449.3(DNA2):c.939+37dup	noncoding	Benign
10	68450250	G	GAA	G68450263A	DNA2	NM_001080449.3(DNA2):c.720-15_720-14dup	noncoding	Benign/Likely_benign
10	68468411	GA	G	A68468418T	DNA2	NM_001080449.3(DNA2):c.258-106del	noncoding	Benign
10	68988959	C	CTGGAA	G68988965T	KIFBP	NM_015634.4(KIFBP):c.128_132dup:p.Glu45fs	coding	Pathogenic
10	69005675	G	GA	C69005688A	KIFBP	NM_015634.4(KIFBP):c.606-45dup	noncoding	Benign
10	69011266	C	CTAAA	A69011287T	KIFBP	NM_015634.4(KIFBP):c.990+252TAAA[6]	noncoding	Benign
10	69015725	CCA	C	C69015726G	KIFBP	NM_015634.4(KIFBP):c.1176_1177del:p.Glu394fs	coding	Pathogenic
10	69343816	TC	T	C69343821T	HK1	NM_000188.3(HK1):c.64-6del	noncoding	Benign
10	69386308	C	CT	A69386314T	HK1	NM_000188.3(HK1):c.1840-10dup	noncoding	Benign
10	69573086	CTG	C	T69573087G	NEUROG3	NM_020999.4(NEUROG3):c.-1-44_-1-43del	noncoding	Benign
10	69802473	CTGGGGAGT	C	G69802478C	COL13A1	NM_001368882.1(COL13A1):c.55_62del:p.Glu19fs	coding	Pathogenic
10	69822402	GCCCCAAAGACATCTCCAGGATGTAA	G	C69822404T	COL13A1	NM_001368882.1(COL13A1):c.330_354del:p.Pro111fs	coding	Pathogenic
10	69868119	CAAAA	C	A69868136G	COL13A1	NM_001368882.1(COL13A1):c.372+331_372+334del	noncoding	Benign
10	69868119	CAAA	C	A69868137G	COL13A1	NM_001368882.1(COL13A1):c.372+332_372+334del	noncoding	Benign
10	69880311	GC	G	C69880314T	COL13A1	NM_001368882.1(COL13A1):c.463-189del	noncoding	Benign
10	69880552	CT	C	T69880553G	COL13A1	NM_001368882.1(COL13A1):c.513del:p.Gly172fs	coding	Pathogenic/Likely_pathogenic
10	69887440	G	GT	C69887453T	COL13A1	NM_001368882.1(COL13A1):c.514-4dup	noncoding	Benign
10	69887440	G	GTT	C69887453T	COL13A1	NM_001368882.1(COL13A1):c.514-5_514-4dup	noncoding	Benign
10	69887440	GT	G	T69887452C	COL13A1	NM_001368882.1(COL13A1):c.514-4del	noncoding	Benign
10	69889709	CCAG	C	A69889711T	COL13A1	NM_001368882.1(COL13A1):c.603+271_603+273del	noncoding	Benign
10	69889714	TTACTG	T	T69889715C	COL13A1	NM_001368882.1(COL13A1):c.603+275_603+279del	noncoding	Benign
10	69904905	CT	C	T69904922G	COL13A1	NM_001368882.1(COL13A1):c.859-11del	noncoding	Benign
10	69904905	CTT	C	T69904921G	COL13A1	NM_001368882.1(COL13A1):c.859-12_859-11del	noncoding	Benign
10	69921887	G	GA	G69921890A	COL13A1	NM_001368882.1(COL13A1):c.1097dup:p.Ala368fs	coding	Pathogenic
10	69922239	TA	T	A69922250G	COL13A1	NM_001368882.1(COL13A1):c.1143+315del	noncoding	Benign
10	69930210	TG	T	G69930219C	COL13A1	NM_001368882.1(COL13A1):c.1530+132del	noncoding	Benign
10	69930389	AT	A	T69930393C	COL13A1	NM_001368882.1(COL13A1):c.1531-7del	noncoding	Benign
10	69930484	GA	G	A69930488C	COL13A1	NM_001368882.1(COL13A1):c.1619del:p.Asn540fs	coding	Pathogenic
10	69935078	G	GT	C69935090T	COL13A1	NM_001368882.1(COL13A1):c.1729-261dup	noncoding	Benign
10	69940993	TTC	CCCT	T69940993C	COL13A1	NM_001368882.1(COL13A1):c.1884_1886delinsCCCT:p.Ser629fs	coding	Pathogenic
10	70435621	TG	T	G70435627C	NODAL	NM_018055.5(NODAL):c.555del:p.Thr186fs	coding	Pathogenic
10	70598610	T	TGTCCGTCA	G70598620T	PRF1	NM_001083116.3(PRF1):c.1103_1110dup:p.Arg371Ter	coding	Pathogenic
10	70598771	CCGAACAG	C	G70598773A	PRF1	NM_001083116.3(PRF1):c.943_949del:p.Leu315fs	coding	Pathogenic
10	70598908	GCTGCC	G	C70598909G	PRF1	NM_001083116.3(PRF1):c.808_812del:p.Gly270fs	coding	Pathogenic
10	70599157	C	CG	A70599163G	PRF1	NM_001083116.3(PRF1):c.563dup:p.Leu189fs	coding	Pathogenic
10	70600415	TG	T	G70600418T	PRF1	NM_001083116.3(PRF1):c.487del:p.His163fs	coding	Pathogenic
10	70600707	ACCTTTGTGTGT	A	T70600710A	PRF1	NM_001083116.3(PRF1):c.185_195del:p.Asp62fs	coding	Pathogenic
10	70875386	ATT	A	T70875392G	SGPL1	NM_003901.4(SGPL1):c.1299-10_1299-9del	noncoding	Benign
10	71322854	A	AAGCT	G71322859A	SLC29A3	NM_018344.6(SLC29A3):c.101_104dup:p.Leu36fs	coding	Pathogenic
10	71323021	CACCGGGG	C	C71323023G	SLC29A3	NM_018344.6(SLC29A3):c.269_275del:p.Thr90fs	coding	Pathogenic
10	71351620	GT	G	T71351621G	SLC29A3	NM_018344.6(SLC29A3):c.443del:p.Val148fs	coding	Pathogenic
10	71362142	TC	T	C71362143A	SLC29A3	NM_018344.6(SLC29A3):c.963del:p.Ile322fs	coding	Pathogenic
10	71397289	A	AAGGCG	G71397290A	CDH23	NM_022124.6(CDH23):c.-35_-34insAGGCG	noncoding	Benign
10	71439870	GC	G	C71439871T	CDH23	NM_022124.6(CDH23):c.40del:p.Leu14fs	coding	Pathogenic
10	71446383	GAC	G	A71446386G	CDH23	NM_022124.6(CDH23):c.136_137del:p.Thr46fs	coding	Pathogenic
10	71510086	TTC	T	C71510088G	CDH23	NM_022124.6(CDH23):c.152_153del:p.Ser51fs	coding	Pathogenic
10	71510119	CA	C	A71510121T	CDH23	NM_022124.6(CDH23):c.185del:p.Asn62fs	coding	Pathogenic
10	71510162	C	CGCTTCTT	T71510170G	CDH23	NM_022124.6(CDH23):c.227_233dup:p.Phe78fs	coding	Pathogenic
10	71510942	CT	C	T71510946C	CDH23	NM_022124.6(CDH23):c.289-8del	noncoding	Benign
10	71510967	T	TCACC	G71510972C	CDH23	NM_022124.6(CDH23):c.303_306dup:p.Val103fs	coding	Pathogenic
10	71511118	AG	A	G71511120T	CDH23	NM_022124.5(CDH23):c.337del	noncoding	Pathogenic
10	71511224	T	TG	T71511229G	CDH23	NM_022124.6(CDH23):c.429+16dup	noncoding	Benign
10	71566867	TA	T	A71566868T	CDH23	NM_022124.6(CDH23):c.556del:p.Ile186fs	coding	Pathogenic
10	71578237	TG	T	G71578240C	CDH23	NM_022124.6(CDH23):c.832+248del	noncoding	Benign
10	71615524	GC	G	C71615527T	CDH23	NM_022124.6(CDH23):c.856del:p.Leu286fs	coding	Pathogenic
10	71615603	TC	T	C71615605T	CDH23	NM_022124.6(CDH23):c.934del:p.Ile311_Leu312insTer	coding	Pathogenic
10	71617370	AT	A	T71617371C	CDH23	NM_022124.6(CDH23):c.1112del:p.Ile371fs	coding	Pathogenic
10	71643559	G	GC	T71643568C	CDH23	NM_022124.6(CDH23):c.1135-294dup	noncoding	Benign
10	71645829	AGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG	A	C71645833A	CDH23	NC_000010.10:g.73405587_73405620del	coding	Pathogenic
10	71645850	AG	A	G71645852T	CDH23	NM_022124.6(CDH23):c.1162del:p.Val388fs	coding	Pathogenic
10	71646216	G	GA	G71646218A	CDH23	NM_022124.6(CDH23):c.1290+237dup	noncoding	Benign
10	71646614	C	CTT	C71646615T	CDH23	NM_022124.6(CDH23):c.1446_1447insTT:p.Leu483fs	coding	Pathogenic
10	71677458	TCTCGCTGGACAAGGACACGGGA	T	G71677462A	CDH23	NM_022124.6(CDH23):c.1521_1542del:p.Leu508fs	coding	Pathogenic
10	71677639	CGT	C	T71677641G	CDH23	NM_022124.6(CDH23):c.1700_1701del:p.Val567fs	coding	Pathogenic
10	71679500	TG	T	G71679504C	CDH23	NM_022124.6(CDH23):c.1858+12del	noncoding	Benign
10	71690589	GC	G	C71690596A	CDH23	NM_022124.6(CDH23):c.2176+12del	noncoding	Benign
10	71701752	C	CA	G71701754A	CDH23	NM_022124.6(CDH23):c.2398-269dup	noncoding	Benign
10	71702675	C	CG	T71702681G	CDH23	NM_022124.6(CDH23):c.2719dup:p.Val907fs	coding	Pathogenic
10	71704943	C	CG	C71704946G	CDH23	NM_022124.6(CDH23):c.2768dup:p.Leu924fs	coding	Pathogenic
10	71705028	ACCGAGCTGGACCG	A	C71705030G	CDH23	NM_022124.6(CDH23):c.2853_2865del:p.Glu952fs	coding	Pathogenic
10	71705092	CGCCCACCAAGA	C	C71705095T	CDH23	NM_022124.6(CDH23):c.2918_2928del:p.Pro973fs	coding	Pathogenic
10	71707017	GC	G	C71707019T	CDH23	NM_022124.6(CDH23):c.3076del:p.Leu1026fs	coding	Pathogenic
10	71712795	AG	A	G71712797C	CDH23	NM_022124.6(CDH23):c.3353del:p.Gly1118fs	coding	Pathogenic
10	71724047	GA	G	A71724050G	CDH23	NM_022124.6(CDH23):c.3375del:p.Ala1126fs	coding	Pathogenic
10	71725396	TC	T	C71725398A	CDH23	NM_022124.6(CDH23):c.3457del:p.His1153fs	coding	Pathogenic
10	71730536	TG	T	G71730540C	CDH23	NM_022124.6(CDH23):c.3651del:p.Leu1218fs	coding	Pathogenic
10	71730599	ACT	A	C71730602G	CDH23	NM_022124.6(CDH23):c.3713_3714del:p.Ser1238fs	coding	Pathogenic
10	71738561	GC	G	C71738562G	CDH23	NM_022124.6(CDH23):c.4274del:p.Ala1425fs	coding	Pathogenic
10	71738586	CT	C	T71738587G	CDH23	NM_022124.6(CDH23):c.4299del:p.Val1434fs	coding	Pathogenic
10	71738818	AG	A	G71738819A	CDH23	NM_022124.6(CDH23):c.4359+172del	noncoding	Benign
10	71739733	GC	G	C71739737T	CDH23	NM_022124.6(CDH23):c.4453del:p.Leu1485fs	coding	Pathogenic
10	71777433	TG	T	G71777438T	CDH23	NM_022124.6(CDH23):c.4846-242del	noncoding	Benign
10	71777688	GC	G	C71777689A	CDH23	NM_022124.6(CDH23):c.4855del:p.His1619fs	coding	Pathogenic
10	71777774	CAG	C	G71777776C	CDH23	NM_022124.6(CDH23):c.4942_4943del:p.Asp1648fs	coding	Pathogenic
10	71778243	AC	A	C71778246T	CDH23	NM_022124.6(CDH23):c.5125del:p.Thr1708_Leu1709insTer	coding	Pathogenic
10	71778286	ACCGCCTCACC	A	C71778287T	CDH23	NM_022124.6(CDH23):c.5166_5175del:p.Arg1723fs	coding	Pathogenic
10	71779279	GT	G	T71779280G	CDH23	NM_022124.6(CDH23):c.5201del:p.Val1734fs	coding	Pathogenic
10	71779377	C	CCTGG	C71779383T	CDH23	NM_022124.6(CDH23):c.5300_5303dup:p.His1769fs	coding	Pathogenic
10	71779384	CAT	C	A71779385G	CDH23	NM_022124.6(CDH23):c.5306_5307del:p.His1769fs	coding	Pathogenic
10	71784348	C	CCGGGAGACCATCGCCTTCTA	A71784370G	CDH23	NM_022124.6(CDH23):c.5432_5451dup:p.Asn1818fs	coding	Pathogenic
10	71788986	A	ACC	T71788992C	CDH23	NM_022124.6(CDH23):c.5871_5872dup:p.Leu1958fs	coding	Pathogenic
10	71789031	ACT	A	T71789035C	CDH23	NM_022124.6(CDH23):c.5916_5917del:p.Pro1973fs	coding	Pathogenic
10	71791236	AC	A	C71791237G	CDH23	NM_022124.6(CDH23):c.6155del:p.Thr2052fs	coding	Pathogenic
10	71791239	GC	G	C71791242A	CDH23	NM_022124.6(CDH23):c.6160del:p.His2054fs	coding	Pathogenic
10	71793228	C	CAA	T71793231A	CDH23	NM_022124.6(CDH23):c.6301_6302dup:p.Asn2101fs	coding	Pathogenic
10	71793302	TC	T	C71793304G	CDH23	NM_022124.6(CDH23):c.6376del:p.Arg2126fs	coding	Pathogenic
10	71793361	GTGGCCACCGACCGGGGCACCGTTCCTCTC	G	G71793363C	CDH23	NM_022124.6(CDH23):c.6435_6463del:p.Ala2146fs	coding	Pathogenic/Likely_pathogenic
10	71793400	G	GC	A71793403C	CDH23	NM_022124.6(CDH23):c.6474dup:p.Ile2159fs	coding	Pathogenic
10	71798456	CT	C	T71798457G	CDH23	NM_022124.6(CDH23):c.6933del:p.Thr2313fs	coding	Pathogenic
10	71799170	G	GT	G71799172T	CDH23	NM_022124.6(CDH23):c.7115dup:p.Arg2373fs	coding	Pathogenic
10	71799175	GGCCTCAGACAACGGGTCCCCGCCCC	G	C71799177G	CDH23	NM_022124.6(CDH23):c.7121_7145del:p.Ala2374fs	coding	Pathogenic
10	71799540	ACT	A	C71799541G	CDH23	NM_022124.6(CDH23):c.7274_7275del:p.Thr2425fs	coding	Pathogenic
10	71800759	AG	A	G71800763T	CDH23	NM_022124.6(CDH23):c.7482+8del	noncoding	Benign
10	71803312	G	GC	A71803318C	CDH23	NM_022124.6(CDH23):c.7769dup:p.Leu2591fs	coding	Pathogenic
10	71803373	CCTGT	C	G71803376T	CDH23	NM_022124.6(CDH23):c.7828_7831del:p.Val2610fs	coding	Pathogenic
10	71805832	CGA	C	A71805834G	CDH23	NM_022124.6(CDH23):c.7901_7902del:p.Glu2634fs	coding	Pathogenic
10	71805985	GGC	G	C71805987G	CDH23	NM_022124.6(CDH23):c.8054_8055del:p.Ala2685fs	coding	Pathogenic
10	71806573	GCT	G	C71806576G	CDH23	NM_022124.6(CDH23):c.8178+295_8178+296del	noncoding	Benign
10	71807515	GCCGGCAAC	G	C71807516G	CDH23	NM_022124.6(CDH23):c.8309_8316del:p.Ala2770fs	noncoding	Pathogenic
10	71807549	C	CCGAT	G71807554C	CDH23	NM_022124.6(CDH23):c.8343_8346dup:p.Gly2783fs	coding	Pathogenic
10	71807923	CTT	C	T71807924G	CDH23	NM_022124.6(CDH23):c.8639_8640del:p.Leu2880fs	coding	Pathogenic
10	71810576	CG	C	G71810580C	CDH23	NM_022124.6(CDH23):c.9077+11del	noncoding	Benign
10	71811403	GT	G	T71811404C	CDH23	NM_022124.6(CDH23):c.9167del:p.Val3056fs	coding	Pathogenic
10	71811565	CT	C	T71811566C	CDH23	NM_022124.6(CDH23):c.9254del:p.Leu3085fs	coding	Pathogenic
10	71811710	CAGACACA	C	C71811714G	CDH23	NC_000010.10:g.73571468_73571474del	noncoding	Pathogenic
10	71811728	CA	C	A71811730G	CDH23	NM_022124.6(CDH23):c.9296del:p.Lys3099fs	coding	Pathogenic
10	71811824	C	CCT	A71811826T	CDH23	NM_022124.6(CDH23):c.9319+72_9319+73insTC	noncoding	Benign
10	71812144	C	CCACCCTCCCTT	C71812166T	CDH23	NM_022124.6(CDH23):c.9380+140_9380+150dup	coding	Benign
10	71812487	CCT	C	C71812488G	CDH23	NM_022124.6(CDH23):c.9389_9390del:p.Pro3130fs	coding	Pathogenic
10	71812491	TG	T	G71812492T	CDH23	NM_022124.6(CDH23):c.9393del:p.Trp3132fs	coding	Pathogenic
10	71812562	AACCTGAGTGAGATCGCCGACCTGTGGAACAGCCCC	A	C71812565G	CDH23	NM_022124.6(CDH23):c.9466_9500del:p.Leu3156fs	coding	Pathogenic
10	71812586	TG	T	G71812588A	CDH23	NM_022124.6(CDH23):c.9489del:p.Leu3162_Trp3163insTer	coding	Pathogenic
10	71813236	T	TC	A71813242C	CDH23	NM_022124.6(CDH23):c.9634-3dup	noncoding	Benign
10	71817483	GGA	G	A71817489G	PSAP	NM_002778.4(PSAP):c.1540-13TC[2]	noncoding	Benign
10	71817747	AC	A	C71817750T	PSAP	NM_002778.4(PSAP):c.1540-272del	noncoding	Benign
10	71818947	AAGTCTC	A	T71818950A	PSAP	NM_002778.4(PSAP):c.1431+78_1431+83del	noncoding	Benign
10	71819785	TC	T	C71819787A	PSAP	NM_002778.4(PSAP):c.1120del:p.Glu374fs	coding	Pathogenic
10	71821990	AC	A	C71821991A	PSAP	NM_002778.4(PSAP):c.794del:p.Cys265fs	coding	Pathogenic
10	71822129	CT	C	T71822130C	PSAP	NM_002778.4(PSAP):c.778-123del	noncoding	Benign
10	71823816	C	CA	G71823830A	PSAP	NM_002778.4(PSAP):c.778-1822dup	noncoding	Benign
10	71825567	TGGCTGGCCTGAACG	T	T71825571A	PSAP	NM_002778.4(PSAP):c.777+256_777+269del	noncoding	Benign
10	71827726	C	CA	T71827745A	PSAP	NM_002778.4(PSAP):c.720+270dup	noncoding	Benign
10	71828052	CCTT	C	C71828053G	PSAP	NM_002778.4(PSAP):c.679_681del:p.Lys227del	coding	Pathogenic/Likely_pathogenic
10	71831185	ATGAAGCAGACATGTTCG	A	T71831186G	PSAP	NM_002778.4(PSAP):c.299_315del:p.Pro100fs	coding	Pathogenic
10	71834462	GC	G	C71834466T	PSAP	NM_002778.4(PSAP):c.83del:p.Gly28fs	coding	Pathogenic
10	72007266	TC	T	C72007269T	CHST3	NM_004273.5(CHST3):c.238del:p.Ser79_Leu80insTer	coding	Pathogenic
10	72007392	G	GA	G72007394A	CHST3	NM_004273.5(CHST3):c.362dup:p.Glu122fs	coding	Pathogenic
10	72007789	GC	G	C72007794T	CHST3	NM_004273.5(CHST3):c.763del:p.Leu255fs	coding	Pathogenic
10	72008177	CCGCGAGATGTACCGCTT	C	G72008181C	CHST3	NM_004273.5(CHST3):c.1150_1166del:p.Glu384fs	coding	Pathogenic
10	72212949	TATG	T	G72212952A	ASCC1	NM_001198800.3(ASCC1):c.112+235_112+237del	noncoding	Benign
10	72213564	A	AC	A72213575C	ASCC1	NM_001198800.3(ASCC1):c.-33-243dup	noncoding	Benign
10	72213564	AC	A	C72213574A	ASCC1	NM_001198800.3(ASCC1):c.-33-234del	noncoding	Benign
10	72375875	G	GA	G72375882A	MICU1	NM_001195518.2(MICU1):c.1181-4dup	noncoding	Benign/Likely_benign
10	72509398	CTCTG	C	G72509402A	MICU1	NM_001195518.2(MICU1):c.538-1133_538-1130del	noncoding	Pathogenic
10	72551212	GC	G	C72551213A	MICU1	NM_001195518.2(MICU1):c.459del:p.Arg154fs	coding	Pathogenic
10	72551264	G	GACTTT	C72551270A	MICU1	NM_001195518.2(MICU1):c.403_407dup:p.Ile137fs	coding	Pathogenic
10	72562914	GA	G	A72562916C	MICU1	NM_001195518.2(MICU1):c.310del:p.Ser104fs	coding	Pathogenic
10	73251542	AT	A	T73251554A	MRPS16	NM_016065.4(MRPS16):c.274+220del	noncoding	Benign
10	73847885	C	CT	G73847886T	CAMK2G	NM_001367534.1(CAMK2G):c.696+102_696+103insA	noncoding	Benign
10	73847938	CA	C	A73847940G	CAMK2G	NM_001367534.1(CAMK2G):c.696+49del	noncoding	Benign
10	74043064	AT	A	T74043072C	VCL	NM_014000.3(VCL):c.169-11del	noncoding	Benign/Likely_benign
10	74043087	GAA	G	A74043090G	VCL	NM_014000.3(VCL):c.176_177del:p.Lys59fs	coding	Pathogenic
10	74090217	C	CA	T74090219A	VCL	NM_014000.3(VCL):c.1352+20dup	noncoding	Benign
10	74096149	A	ACTT	T74096153C	VCL	NM_014000.3(VCL):c.1743+295_1743+297dup	noncoding	Benign
10	74096150	C	CTT	A74096166T	VCL	NM_014000.3(VCL):c.1743+309_1743+310dup	noncoding	Benign
10	74097010	AC	A	C74097012A	VCL	NM_014000.3(VCL):c.1744-192del	noncoding	Benign
10	74097195	GT	G	T74097200A	VCL	NM_014000.3(VCL):c.1744-4del	noncoding	Benign
10	74114408	C	CGT	C74114438T	VCL	NM_014000.3(VCL):c.3153+22GT[15]	noncoding	Benign
10	74114408	CGTGTGT	C	T74114432C	VCL	NM_014000.3(VCL):c.3153+22GT[11]	noncoding	Benign
10	74114408	CGTGTGTGT	C	T74114430C	VCL	NM_014000.3(VCL):c.3153+22GT[10]	noncoding	Benign
10	74114434	T	TGC	T74114436C	VCL	NM_014000.3(VCL):c.3153+48_3153+49insCG	noncoding	Benign
10	74589262	C	CT	A74589275T	ADK	NM_006721.4(ADK):c.727-8dup	noncoding	Benign
10	74708153	G	GA	G74708171A	ADK	NM_006721.4(ADK):c.965-151dup	noncoding	Benign
10	74842497	CT	C	T74842499G	KAT6B	NM_012330.4(KAT6B):c.-258-101del	noncoding	Benign
10	74969644	CT	C	T74969649A	KAT6B	NM_012330.4(KAT6B):c.731-11del	noncoding	Benign/Likely_benign
10	74985215	TG	T	G74985216T	KAT6B	NM_012330.4(KAT6B):c.2510del:p.Cys837fs	coding	Pathogenic
10	75022105	AGAG	A	G75022111A	KAT6B	NM_012330.4(KAT6B):c.3249GGA[1]:p.Glu1089del	coding	Benign/Likely_benign
10	75022147	GGAAGAA	G	G75022166A	KAT6B	NM_012330.4(KAT6B):c.3289GAA[6]:p.Glu1103_Glu1104del	coding	Benign/Likely_benign
10	75022153	AGAAG	A	G75022154A	KAT6B	NM_012330.4(KAT6B):c.3295_3298del:p.Glu1099fs	coding	Pathogenic
10	75022205	CCA	C	C75022208G	KAT6B	NM_012330.4(KAT6B):c.3349_3350del:p.Gln1117fs	coding	Pathogenic
10	75025012	AG	A	G75025013T	KAT6B	NM_012330.4(KAT6B):c.3428del:p.Ser1143fs	coding	Pathogenic
10	75028792	AAAACAGAAGGGAAG	A	G75028798T	KAT6B	NM_012330.4(KAT6B):c.3974_3987del:p.Arg1325fs	coding	Pathogenic
10	75028810	CAT	C	A75028811G	KAT6B	NM_012330.4(KAT6B):c.3987_3988del:p.Ala1331fs	coding	Pathogenic
10	75028815	GC	G	C75028819T	KAT6B	NM_012330.4(KAT6B):c.3995del:p.Pro1332fs	coding	Pathogenic
10	75028886	AGAGGAG	A	G75028898A	KAT6B	NM_012330.4(KAT6B):c.4065GGA[3]:p.Glu1367_Glu1368del	coding	Benign/Likely_benign
10	75028931	GGAA	G	A75028942G	KAT6B	NM_012330.4(KAT6B):c.4109AAG[3]:p.Glu1373del	coding	Benign
10	75028931	G	GGAA	G75028945A	KAT6B	NM_012330.4(KAT6B):c.4109AAG[5]:p.Glu1373dup	coding	Benign/Likely_benign
10	75029282	CAGTGAGCCCA	C	T75029285G	KAT6B	NM_012330.4(KAT6B):c.4461_4470del:p.Ser1487fs	coding	Pathogenic
10	75029394	G	GAT	C75029398T	KAT6B	NM_012330.4(KAT6B):c.4572_4573dup:p.Thr1525fs	coding	Pathogenic
10	75030229	AT	A	T75030233G	KAT6B	NM_012330.4(KAT6B):c.5409del:p.Phe1803fs	coding	Pathogenic
10	75031177	T	TA	G75031191A	KAT6B	NM_012330.4(KAT6B):c.*144dup	noncoding	Benign
10	76324464	AG	A	G76324467A	LRMDA	NM_001305581.2(LRMDA):c.583del:p.Glu195fs	coding	Pathogenic
10	76944983	GA	G	A76944992C	KCNMA1	NM_001161352.2(KCNMA1):c.2710-19del	noncoding	Benign
10	76944983	G	GA	C76944993A	KCNMA1	NM_001161352.2(KCNMA1):c.2710-19dup	noncoding	Benign/Likely_benign
10	76949329	TG	T	G76949331C	KCNMA1	NM_001161352.2(KCNMA1):c.2521del:p.His841fs	coding	Pathogenic
10	76970329	GAAAA	G	A76970344G	KCNMA1	NM_001161352.2(KCNMA1):c.2267-266_2267-263del	noncoding	Benign
10	76970329	GAA	G	A76970346G	KCNMA1	NM_001161352.2(KCNMA1):c.2267-264_2267-263del	noncoding	Benign
10	76970329	GA	G	A76970347G	KCNMA1	NM_001161352.2(KCNMA1):c.2267-263del	noncoding	Benign
10	77008011	CTGTAGACTGCAT	C	T77008014G	KCNMA1	NM_001161352.2(KCNMA1):c.2092+3944_2092+3955del	noncoding	Benign
10	77025233	GGT	G	G77025242A	KCNMA1	NM_001161352.2(KCNMA1):c.1928+2580AC[4]	noncoding	Benign
10	77025240	GTGTATA	G	G77025242A	KCNMA1	NM_001161352.2(KCNMA1):c.1928+2577_1928+2582del	noncoding	Benign
10	77025240	GTGTATATA	G	G77025242A	KCNMA1	NM_001161352.2(KCNMA1):c.1928+2575_1928+2582del	noncoding	Benign
10	77025240	GTGTATATATATATATA	G	G77025242A	KCNMA1	NM_001161352.2(KCNMA1):c.1928+2567_1928+2582del	noncoding	Benign
10	77025240	GTGTATATATATATATATA	G	G77025242A	KCNMA1	NM_001161352.2(KCNMA1):c.1928+2565_1928+2582del	noncoding	Benign
10	77025240	GTGTATATATATATATATATA	G	G77025242A	KCNMA1	NM_001161352.2(KCNMA1):c.1928+2563_1928+2582del	noncoding	Benign
10	77073271	G	GT	A77073273T	KCNMA1	NM_001161352.2(KCNMA1):c.1594-20dup	noncoding	Benign
10	77079369	A	AGT	A77079405T	KCNMA1	NM_001161352.2(KCNMA1):c.1593+78AC[18]	noncoding	Benign
10	77079369	A	AGTGT	A77079405T	KCNMA1	NM_001161352.2(KCNMA1):c.1593+78AC[19]	noncoding	Benign
10	77079369	A	AGTGTGT	A77079405T	KCNMA1	NM_001161352.2(KCNMA1):c.1593+78AC[20]	noncoding	Benign
10	77079369	A	AGTGTGTGT	A77079405T	KCNMA1	NM_001161352.2(KCNMA1):c.1593+78AC[21]	noncoding	Benign
10	77079369	A	AGTGTGTGTGT	A77079405T	KCNMA1	NM_001161352.2(KCNMA1):c.1593+78AC[22]	noncoding	Benign
10	77079369	AGT	A	T77079403A	KCNMA1	NM_001161352.2(KCNMA1):c.1593+78AC[16]	noncoding	Benign
10	77084821	G	GA	C77084834A	KCNMA1	NM_001161352.2(KCNMA1):c.1441-114dup	noncoding	Benign
10	77086490	TG	T	G77086491A	KCNMA1	NM_001161352.2(KCNMA1):c.1437del:p.Lys480fs	coding	Pathogenic
10	77090449	GA	G	A77090452G	KCNMA1	NM_001161352.2(KCNMA1):c.1284del:p.Leu429fs	coding	Pathogenic
10	77108407	CAAA	C	A77108420T	KCNMA1	NM_001161352.2(KCNMA1):c.1223+71_1223+73del	noncoding	Benign
10	77108407	CAA	C	A77108421T	KCNMA1	NM_001161352.2(KCNMA1):c.1223+72_1223+73del	noncoding	Benign
10	77110161	AT	A	T77110170A	KCNMA1	NM_001161352.2(KCNMA1):c.1131+11del	noncoding	Benign
10	77184934	G	GA	G77184940A	KCNMA1	NM_001161352.2(KCNMA1):c.603-19dup	noncoding	Benign
10	77185038	AC	A	C77185039A	KCNMA1	NM_001161352.2(KCNMA1):c.603-123del	noncoding	Benign
10	77637340	G	GC	G77637346C	KCNMA1	NM_001161352.2(KCNMA1):c.302dup:p.Leu102fs	coding	Pathogenic
10	77637569	ATTCT	A	T77637570A	KCNMA1	NM_001161352.2(KCNMA1):c.70_73del:p.Leu23_Arg24insTer	coding	Pathogenic
10	77637737	T	TGCTGCC	C77637746T	KCNMA1	NM_001161352.2(KCNMA1):c.-101_-96dup	noncoding	Benign/Likely_benign
10	77980013	AT	A	T77980015G	POLR3A	NM_007055.4(POLR3A):c.4024+127del	noncoding	Benign
10	77981479	C	CA	T77981481A	POLR3A	NM_007055.4(POLR3A):c.3839dup:p.Met1280fs	coding	Pathogenic
10	77982221	T	TTATC	A77982226T	POLR3A	NM_007055.4(POLR3A):c.3688_3691dup:p.Asn1231delinsArgTer	coding	Pathogenic
10	77985221	GT	G	T77985222G	POLR3A	NM_007055.4(POLR3A):c.3190del:p.Thr1064fs	coding	Pathogenic
10	78002226	GGGCTGTT	G	G78002228C	POLR3A	NM_007055.4(POLR3A):c.2323_2329del:p.Asn775fs	coding	Pathogenic
10	78002277	C	CGGATCACAGACAGCTCCTTCAG	A78002301G	POLR3A	NM_007055.4(POLR3A):c.2257_2278dup:p.Arg760fs	coding	Pathogenic
10	78009679	A	AG	A78009687G	POLR3A	NM_007055.4(POLR3A):c.1771-11dup	noncoding	Benign
10	78009809	A	AC	A78009815C	POLR3A	NM_007055.4(POLR3A):c.1770+50dup	noncoding	Benign
10	78010504	G	GT	C78010507T	POLR3A	NM_007055.4(POLR3A):c.1608dup:p.Pro537fs	coding	Pathogenic
10	78019151	GA	G	A78019155G	POLR3A	NM_007055.4(POLR3A):c.1289+10del	noncoding	Benign
10	78019221	G	GT	G78019226T	POLR3A	NM_007055.4(POLR3A):c.1229dup:p.Asn410fs	coding	Pathogenic
10	78019274	CA	C	A78019281C	POLR3A	NM_007055.4(POLR3A):c.1186-10del	noncoding	Benign
10	78021437	G	GT	G78021440T	POLR3A	NM_007055.4(POLR3A):c.1185+107dup	noncoding	Benign
10	78024370	CAA	C	A78024388G	POLR3A	NM_007055.4(POLR3A):c.645+177_645+178del	noncoding	Benign
10	78024370	CA	C	A78024389G	POLR3A	NM_007055.4(POLR3A):c.645+178del	noncoding	Benign
10	78024370	C	CA	G78024390A	POLR3A	NM_007055.4(POLR3A):c.645+160dup	noncoding	Benign
10	78026126	G	GA	G78026127A	POLR3A	NM_007055.4(POLR3A):c.147_148insT:p.Pro50fs	coding	Pathogenic
10	78026161	CT	C	T78026162C	POLR3A	NM_007055.4(POLR3A):c.112del:p.Ser38fs	coding	Pathogenic
10	78029612	CT	C	T78029630C	POLR3A	Single_allele	noncoding	Benign
10	78030401	TAACTCATTTCGGTACTCCATCACTTAATCATGAAATAATGTTGACTATATATATATATATATATATATATATATAGTCAACATTATGGGTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGGAGTGCAGTGGCGAAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACTATGTTGGCCAGGCTGGTCTCGAATCCCTGACCTCGTGATCCGCCCGCCTCAGTCTCCCAAAGTGATAGGATTACAGGTGTGAGCCACCACACCCGGCTCTGATGTTTACAATATTATACCAACAAGGGTTGGATCGTGTGTGACTTATCTAGAGGTTAAGAGCAAAAGTTATGAAATCACAGTGCCATCATGGGAGTCTAGCTTTCACCATTTAAAGTTGTGTAGGCAGCCAGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGGGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGTGTGCGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCTGGGAGGTGGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTGCAGCCTGGGCGACAAGAGTGAAACTCCATCTCAAAAATAAAAAAAAATAAAAAATAAAGTTGTGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAATTTGAGACCAGCCTGACCAATATGGTGAAACTCCGTCTCTACTAAAAAATACAAAAATTAGCCTGGTGTGGTGGCGCATTCCTGTAATTCCAGCAACTCAGGAGGCTAAGGCAGGAGAATCGCTTAAATCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAGATATAGATATAGATATATGTGTATATATACACATACGTGTATATATACACGTATATAAAGTGTGAACTTGGGAAAGTTATTTAATCTTATTGTGTGTTAGTTTCCCCATTTATAACATGGGTGAGTAATATGTATCCTATTTCTTAGAGTCAATGGGAAGGTTAAATAGCAAAATGAAGGTAAAAGTAATTAGAATGTAACAGGCACATTACAATCACTCAATAAATATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTTCCAGAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGCTGACTATTTTCTTAAGAATAAGGATAGTTGGTCACCTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACTTGGGAGGCGGATGTTGCAGTGACCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATGCGGTCTCAAAAAAAAAAAAAAAAACAAAAAACGAAAAAAAAGAAAAATAGTCGGCCGGGGACGGTGGCTCACGCCTATAATCCCAGCACTTTGAGAGGCCGAGGCGGGGGCGGATCACTTGCGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTCCTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCAGGCCTGTAATTTTAGTTACTCTGGAAGCTGAGCCAGGAGAATCGCTTGAATCCGGGAGGTCGAGGTTGCAGTGAGCCGCGATGAAGCCATTGCTCTCCAACCTGGGTGACAAGAGCTAGACTCTGTCTCAGGAAAAAAAAAAAAAGAAAATAGGAAAGCTGCCCGCAAAGCCTGCACCTTGGACACCTCGTCTGCACTAACATTTGGGAAATTCTTCTTATTATTTCTCCGGAACATATATATTTACATTCTTTACATGTCTGTTTCACGTTAAAGAAAATATTTCTGGAGCAATCAATTTTTTTTTCCTTTTTTTTTTTTTTTTTCTGAGACGGAGTTTCGCTCTTATTGCCCAGGCGGAGTGCAATGGTGCGATCTCGGCCCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAGATAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCCAATTTTTTTTTTTTTGTAGTAGAGACGGGGTTTCGCCATTTTGCCCAGGCTGGTATCGAACTTCTGACCTCAGGTCATCTACCTGCTTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCCCCTGGCTTCCAATTTTTTTTTCCTTTTTTTTCTTTTCTTTTTTTTTTTTTTCTGAGACGGATTTTCGCTCCTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCCCACTGCAACCTTTGCTTCCCGGGTTCTGGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCCGCTAATTTTGTATTTTGTATTTATTTATTTATTTATTTTCGTAGATACGTGGTTTCGCCATGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGCCCTCCCAAAGTGCTGGGATTACAGGCGTGGCCATCGCGCCCGGCCAAATATTTTTCAAAATCTAATTTTGCATAATGACCAAGATTTGCAGAAAAATACAAATTAAAGAGATCTTTTAAAGTAAAGATTCGTCATAAAAGTCACAGAAATAATACTCATGAATAATAAATTAGAATGGGCAATGTTAAGTACTTGAAATAACAAAGGTTTTAGAGTCAGGGTTTCTGCAGTTTCCCTAGCCATATAACGAGGAGACTGTTAGAGAGGATATCCTAAAATGCTTTCCAAGTTTACCCACCTCTAACTCGGAAGAAGGCAATTTAAACTAATTTGGTTTACCGGAATTCAAATACGTACAATTCAACATAATGAATTGAACTGAAATTGAACACCTGCTTGCGTAAACCTAGTCGGCTCGAGTTGTTCTGGTTCTGGATTGGTCAGTCTAGAGTTCCAGGGGTGTGGCCAAAAGTCTGTGAGGCGGGGCCGTAGGCAGCCTAAATCAGGCATCGGCGCGGTCAGCCTCGTGGCGCGCCCACGCCCCCACGCCGGCTCTTCCCGGGGTCCTTCCGTGCGCGTTGATATGATTGGCCGGCGAATCGTGGTTCTCTTTTCCTCCTTGGCTGTCTGAAGATAGATCGCCATCATGGTGAGTCTCCCTGGGCCCGTGCAGTCATCTGCCGCGTATCCGAGCCATCCGTGGTCCCTGGGTCCCAGTACTTGAGCTATAGGCACGCGAAGCCCGGTTGCTCTTCTCTGGCCGTTTCTGTCAGAGGATGGTTGTCGAGGGGCTCGGGGCTGTTGGCAGGGCGTCCGGGCTGGCGGGCTGCGCTGTAGACCCGGACACGCTGGGCTTCGGGCTCCAGCGCCTGGGCAGTGCAGGAGCTGTTGCGCTTGTTGACTTCGTGGAGCACGGTGGATGGGGGTAGGGGGCGGGCGGGATAGATGGACACTGGGAGGCACATCTCGTCTGCAGTTCCTCATTGGGCTAGGTAGGCGGCTTGCAGGTGATGGCAGTACAAGAGGTGAAGAAGGTGCGGGCAGCGCCTGGGCGAGTTGCGGCAAGTGAAACCATTCCCACGTGTAAGCTAGAAAACTTGTCAGCTGGATGGATCTTCATGTTTCATAGTGGGGAAACAGGCCCTGGAAAGAGATGTTATAAAAAGGTAGTCCTGCCCTAAGTCATGCGTTATTAGCTCCTCCAGCATCCGTTTTTAACTTTACCAGCAATCTTTTTTTTTTCTCCTTACCTTTGATCCGTTACTTTCAAGAATTGAGTACCACTGACGTGGATTTAATTTGGTGTGGTTTCTCAAAGTAAAATGGAGAAAGTCTAGGAAGTTATTTGCTGCCATGAAAGTCTCTTGCGCCTCCTTTTTGGTAAAATTGTTAGCATAAATTGCTTAATGCCCACATTTTTTGTTAGGTATTAAGTAAAGGTGCAGTTCAGTCCTTCAGAAGGGAATATCGTTTTCTCTGATCTCTGCTATGGCCATTCTAGAAGGATAGATTACATGTAGGTAGTGAGTACAAGGTTTGGGGCACATTTGTGCAAGACATGATAAACACAGTTCATTGAGTGACCTTTATATGAGCCACAGCAGTTTTTACCCCAGAGAAGTGATTCTCAACCCGGAGTGATTTTTCTCCTAAGGGAACAGTTGGCTAAGTCTGGAGACATTTTTGATTGTCACAACTGGGAAAGGTGGGAAGTGCTTCCGGCATCTAGTGGTTAGAGGGCTGGGATTTTTATAGTTATTCTAAAACATACAGTCCCCACAACATATCCATATGGAATTATCCATATGGAAATATCAGTAGTGCTGAGGTTGAGAAACCCTGCCCCAGAGATACACATAACCTAGTGAAGTAAGTTGTACAGATTCATGTGTAAAACCATTGTGTTTTCCTGGTATTTTATGTATTCCTTAGGTGTATCCTGTGAGTTTGGCCTTGCCCAGTGGGTTTTATTTACTTTAGTTCGCTACATGACTAATGGCTACAAATTGGACTGCAACATTCTAGGTCTTGGAAAATCACAGCAAGGCCAAGAAAAGTTGGAGTAGTTTTATTAACCAGAGTGTTTATGTTTTCAGAACGACACCGTAACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGAAGGGCACATCAATCTTTGCTTAATTGTCCTTTACTCTAAAGATGTATTTTATCATACTGAATGCTAAACTTGATATCTCCTTTTAGGTCATTGATGTCCTTCACCCCGGGA	T	A78030403G	RPS24	NM_007055.3(POLR3A):c.-6128_-995del	noncoding	Pathogenic
10	78035412	CAA	C	A78035414T	RPS24	NM_033022.4(RPS24):c.66_67del:p.Gln22fs	coding	Pathogenic
10	78037932	CCT	C	C78037937A	RPS24	NM_033022.4(RPS24):c.390+629CT[2]	noncoding	Benign
10	79292177	GC	G	C79292182G	ZMIZ1	NM_020338.4(ZMIZ1):c.783del:p.Ala262fs	coding	Pathogenic
10	79292214	CG	C	G79292215C	ZMIZ1	NM_020338.4(ZMIZ1):c.816del:p.Pro273fs	coding	Pathogenic
10	79307570	CTG	C	T79307573A	ZMIZ1	NM_020338.4(ZMIZ1):c.2835+2_2835+3del	coding	Pathogenic
10	79612475	CG	C	G79612476A	SFTPA1	NM_005411.5(SFTPA1):c.292+45del	noncoding	Benign
10	79612904	CTTG	C	T79612905C	SFTPA1	NM_005411.5(SFTPA1):c.293-284_293-282del	noncoding	Benign
10	79712337	CTGAAAAGACA	C	T79712338C	NUTM2B	NM_001278495.2(NUTM2B):c.2490_2499del:p.Glu831fs	coding	Benign
10	79712349	CCT	C	C79712350A	NUTM2B	NM_001278495.2(NUTM2B):c.2502_2503del:p.Tyr835fs	coding	Benign
10	80163183	GT	G	T80163185C	ANXA11	NM_145868.2(ANXA11):c.1086+165del	noncoding	Benign
10	80166036	ACG	A	G80166042A	ANXA11	NM_145868.2(ANXA11):c.858+42CG[2]	noncoding	Benign
10	80166040	GCGCACACACACACA	G	G80166042A	ANXA11	NM_145868.2(ANXA11):c.858+30_858+43del	noncoding	Benign
10	80166040	GCGCACACACACA	G	G80166042A	ANXA11	NM_145868.2(ANXA11):c.858+32_858+43del	noncoding	Benign
10	80166040	GCGCACACACA	G	G80166042A	ANXA11	NM_145868.2(ANXA11):c.858+34_858+43del	noncoding	Benign
10	80166226	CA	C	A80166237C	ANXA11	NM_145868.2(ANXA11):c.745-30del	noncoding	Benign
10	80166226	C	CA	C80166238A	ANXA11	NM_145868.2(ANXA11):c.745-40dup	noncoding	Benign
10	80274503	AGC	A	G80274506A	MAT1A	NM_000429.3(MAT1A):c.1085+15_1085+16del	noncoding	Benign
10	80274560	CCA	C	C80274563T	MAT1A	NM_000429.3(MAT1A):c.1043_1044del:p.Val348fs	coding	Pathogenic
10	80275141	G	GC	A80275148C	MAT1A	NM_000429.3(MAT1A):c.826dup:p.Ala276fs	coding	Pathogenic
10	80285307	ATAAT	A	A80285310T	MAT1A	NM_000429.3(MAT1A):c.169+201_169+204del	noncoding	Benign
10	80289495	T	TTTTTTC	C80289498T	MAT1A	NM_000429.3(MAT1A):c.-73_-72insGAAAAA	noncoding	Benign/Likely_benign
10	84196609	AC	A	C84196610T	CDHR1	NM_033100.4(CDHR1):c.257del:p.Thr86fs	coding	Pathogenic
10	84199095	GA	G	A84199096G	CDHR1	NM_033100.4(CDHR1):c.413del:p.Glu138fs	coding	Pathogenic
10	84201848	GCTGC	G	C84201849G	CDHR1	NM_033100.4(CDHR1):c.568_571del:p.Leu190fs	coding	Pathogenic
10	84201859	AG	A	G84201861C	CDHR1	NM_033100.4(CDHR1):c.580del:p.Ala194fs	coding	Pathogenic
10	84201888	TC	T	C84201891G	CDHR1	NM_033100.4(CDHR1):c.610del:p.Arg204fs	coding	Pathogenic
10	84205917	TGCATG	T	G84205918T	CDHR1	NM_033100.4(CDHR1):c.954_958del:p.His319fs	coding	Pathogenic/Likely_pathogenic
10	84208780	CG	C	G84208781A	CDHR1	NM_033100.4(CDHR1):c.1220del:p.Arg407fs	coding	Pathogenic
10	84211021	C	CA	C84211023A	CDHR1	NM_033100.4(CDHR1):c.1342dup:p.Thr448fs	coding	Pathogenic
10	84211138	A	AG	C84211144G	CDHR1	NM_033100.4(CDHR1):c.1463dup:p.Ser489fs	coding	Pathogenic
10	84211662	TACAGG	T	A84211665C	CDHR1	NM_033100.4(CDHR1):c.1503_1507del:p.Gly502fs	coding	Pathogenic
10	84214146	TG	T	G84214149T	CDHR1	NM_033100.4(CDHR1):c.2108del:p.Gly703fs	coding	Pathogenic
10	86669036	T	TCAGG	T86669065C	LDB3	NM_007078.3(LDB3):c.93+253CAGG[8]	noncoding	Benign
10	86681156	A	AC	T86681158C	LDB3	NM_007078.3(LDB3):c.322-279dup	noncoding	Benign
10	86691878	CCT	C	C86691885G	LDB3	NM_007078.3(LDB3):c.690-17CT[3]	noncoding	Benign/Likely_benign
10	86699239	TTC	T	C86699267G	LDB3	NM_007078.3(LDB3):c.896+6669TC[13]	noncoding	Benign/Likely_benign
10	86699239	TTCTCTC	T	C86699263G	LDB3	NM_007078.3(LDB3):c.896+6669TC[11]	noncoding	Benign/Likely_benign
10	86699239	TTCTCTCTC	T	C86699261G	LDB3	NM_007078.3(LDB3):c.896+6669TC[10]	noncoding	Benign
10	86699264	TC	T	C86699265T	LDB3	NM_007078.3(LDB3):c.896+6694del	noncoding	Benign/Likely_benign
10	86716307	G	GT	G86716316T	LDB3	NM_007078.3(LDB3):c.1232-12dup	noncoding	Benign/Likely_benign
10	86716307	GT	G	T86716315G	LDB3	NM_007078.3(LDB3):c.1232-12del	noncoding	Benign/Likely_benign
10	86758367	A	AT	G86758385T	BMPR1A	NM_004329.3(BMPR1A):c.-268+1465dup	noncoding	Benign
10	86758367	ATT	A	T86758383G	BMPR1A	NM_004329.3(BMPR1A):c.-268+1464_-268+1465del	noncoding	Benign
10	86763614	CAAGTACCA	C	T86763618G	BMPR1A	NM_004329.3(BMPR1A):c.-268+6699_-268+6706del	noncoding	Benign
10	86764244	G	GAA	G86764247A	BMPR1A	NM_004329.3(BMPR1A):c.-268+7326_-268+7327dup	noncoding	Benign
10	86767443	C	CGGA	C86767449A	BMPR1A	NM_004329.3(BMPR1A):c.-268+10527_-268+10529dup	noncoding	Benign
10	86767767	TC	T	C86767772A	BMPR1A	NM_004329.3(BMPR1A):c.-268+10853del	noncoding	Benign
10	86768925	CTG	C	T86768928C	BMPR1A	NM_004329.3(BMPR1A):c.-268+12009_-268+12010del	noncoding	Benign
10	86838594	GT	G	T86838606C	BMPR1A	NM_004329.3(BMPR1A):c.-267-259del	noncoding	Benign
10	86875718	T	TA	G86875731A	BMPR1A	NM_004329.3(BMPR1A):c.-152-137dup	noncoding	Benign
10	86890090	C	CA	C86890092A	BMPR1A	NM_004329.3(BMPR1A):c.97dup:p.Thr33fs	coding	Pathogenic
10	86890104	C	CA	G86890106A	BMPR1A	NM_004329.3(BMPR1A):c.111dup:p.Asp38fs	coding	Pathogenic
10	86890114	CCAGAAAAAGT	C	A86890122T	BMPR1A	NM_004329.3(BMPR1A):c.128_137del:p.Lys43fs	coding	Pathogenic
10	86890117	GAAAAAGTCAGA	G	A86890121T	BMPR1A	NM_004329.3(BMPR1A):c.127_137del:p.Lys43fs	coding	Pathogenic
10	86890146	CACCAGAGGAT	C	A86890150T	BMPR1A	NM_004329.3(BMPR1A):c.156_165del:p.Glu53fs	coding	Pathogenic
10	86890231	A	AT	A86890236T	BMPR1A	NM_004329.3(BMPR1A):c.230+11dup	noncoding	Benign
10	86892110	G	GT	C86892118T	BMPR1A	NM_004329.3(BMPR1A):c.231-10dup	noncoding	Benign/Likely_benign
10	86892168	A	AG	A86892172G	BMPR1A	NM_004329.3(BMPR1A):c.275dup:p.Glu93fs	coding	Pathogenic
10	86899815	CGCCG	C	C86899817A	BMPR1A	NM_004329.3(BMPR1A):c.357_360del:p.Arg120fs	coding	Pathogenic
10	86899822	CA	C	A86899824T	BMPR1A	NM_004329.3(BMPR1A):c.364del:p.Thr121_Ile122insTer	coding	Pathogenic
10	86899878	CCT	C	C86899879G	BMPR1A	NM_004329.3(BMPR1A):c.419_420del:p.Pro140fs	coding	Pathogenic
10	86900050	CG	C	G86900051A	BMPR1A	NM_004329.3(BMPR1A):c.455del:p.Arg152fs	coding	Pathogenic
10	86900092	GC	G	C86900093T	BMPR1A	NM_004329.3(BMPR1A):c.497del:p.Ala166fs	coding	Pathogenic
10	86900425	C	CT	G86900440T	BMPR1A	NM_004329.3(BMPR1A):c.530+313dup	noncoding	Benign
10	86912241	C	CATAA	T86912244A	BMPR1A	NM_004329.3(BMPR1A):c.534_535insAAAT:p.Tyr179fs	coding	Pathogenic
10	86912292	CAGGATGA	C	G86912295C	BMPR1A	NM_004329.3(BMPR1A):c.586_592del:p.Asp196fs	coding	Pathogenic
10	86916992	C	CA	G86917005A	BMPR1A	NM_004329.3(BMPR1A):c.676-130dup	noncoding	Benign
10	86917119	CT	C	T86917125C	BMPR1A	NM_004329.3(BMPR1A):c.676-9del	noncoding	Benign
10	86917155	CAG	C	G86917157T	BMPR1A	NM_004329.3(BMPR1A):c.699_700del:p.Gln233fs	coding	Pathogenic
10	86917218	CGTGGCGAAAAA	C	A86917225G	BMPR1A	NM_004329.3(BMPR1A):c.767_777del:p.Glu256fs	coding	Pathogenic
10	86917250	T	TA	C86917252A	BMPR1A	NM_004329.3(BMPR1A):c.793dup:p.Thr265fs	coding	Pathogenic
10	86917269	TG	T	G86917271T	BMPR1A	NM_004329.3(BMPR1A):c.813del:p.Trp271fs	coding	Pathogenic
10	86917284	GA	G	A86917287T	BMPR1A	NM_004329.3(BMPR1A):c.829del:p.Ile277fs	coding	Pathogenic
10	86919181	CG	C	G86919183C	BMPR1A	NM_004329.3(BMPR1A):c.880del:p.Ala294fs	coding	Pathogenic
10	86919225	AT	A	T86919227A	BMPR1A	NM_004329.3(BMPR1A):c.924del:p.Thr309fs	coding	Pathogenic
10	86919291	G	GCCCT	G86919296C	BMPR1A	NM_004329.3(BMPR1A):c.989_992dup:p.Leu332fs	coding	Pathogenic
10	86919323	TG	T	G86919325T	BMPR1A	NM_004329.3(BMPR1A):c.1022del:p.Gly341fs	coding	Pathogenic
10	86919364	GA	G	A86919367G	BMPR1A	NM_004329.3(BMPR1A):c.1064del:p.Lys355fs	coding	Pathogenic
10	86919402	A	AAC	T86919406C	BMPR1A	NM_004329.3(BMPR1A):c.1101_1102dup:p.Ile368fs	coding	Pathogenic
10	86919421	A	AT	G86919423T	BMPR1A	NM_004329.3(BMPR1A):c.1119dup:p.Gly374fs	coding	Pathogenic
10	86919434	CA	ACCTGGAG	C86919434A	BMPR1A	NM_004329.3(BMPR1A):c.1131_1132delinsACCTGGAG:p.Cys377_Ile378delinsTer	coding	Pathogenic
10	86919453	G	GC	T86919455C	BMPR1A	NM_004329.3(BMPR1A):c.1151dup:p.Val385fs	coding	Pathogenic
10	86919599	TG	T	G86919606A	BMPR1A	NM_004329.3(BMPR1A):c.1166+137del	noncoding	Benign
10	86919687	TTTTG	T	G86919695T	BMPR1A	NM_004329.3(BMPR1A):c.1166+226_1166+229del	noncoding	Benign
10	86919691	GTTTGTTT	G	G86919716T	BMPR1A	NM_004329.3(BMPR1A):c.1166+223TTTGTTT[3]	noncoding	Benign
10	86921544	C	CT	G86921547T	BMPR1A	NM_004329.3(BMPR1A):c.1193dup:p.Leu398fs	coding	Pathogenic
10	86921674	G	GC	T86921676C	BMPR1A	NM_004329.3(BMPR1A):c.1322dup:p.Arg442fs	coding	Pathogenic
10	86923241	G	GA	T86923242A	BMPR1A	NM_004329.3(BMPR1A):c.1343-135_1343-134insA	noncoding	Benign
10	86923242	T	TGTATATA	A86923244T	BMPR1A	NM_004329.3(BMPR1A):c.1343-133_1343-132insTATATAG	noncoding	Benign
10	86923403	A	AT	A86923406T	BMPR1A	NM_004329.3(BMPR1A):c.1372dup:p.Tyr458fs	coding	Pathogenic
10	87505136	T	TGGGGG	A87505139G	MINPP1	NM_004897.5(MINPP1):c.223_224insGGGGG:p.Glu75fs	coding	Pathogenic
10	87505214	GC	G	C87505215A	MINPP1	NM_004897.5(MINPP1):c.300del:p.Lys101fs	coding	Pathogenic
10	87521126	GAT	G	A87521129C	MINPP1	NM_004897.5(MINPP1):c.1027_1028del:p.Ile343fs	coding	Pathogenic
10	87659881	C	CGCT	C87659908T	PAPSS2	NM_001015880.2(PAPSS2):c.-98TGC[9]	noncoding	Benign
10	87659881	C	CGCTGCTGCT	C87659908T	PAPSS2	NM_001015880.2(PAPSS2):c.-98TGC[11]	noncoding	Benign
10	87709326	CATATAT	C	T87709340C	PAPSS2	NM_001015880.2(PAPSS2):c.145+14AT[6]	noncoding	Benign
10	87709326	CATAT	C	T87709342C	PAPSS2	NM_001015880.2(PAPSS2):c.145+14AT[7]	noncoding	Benign
10	87709326	CAT	C	T87709344C	PAPSS2	NM_001015880.2(PAPSS2):c.145+14AT[8]	noncoding	Benign
10	87709326	C	CAT	C87709346T	PAPSS2	NM_001015880.2(PAPSS2):c.145+14AT[10]	noncoding	Benign
10	87712964	C	CT	A87712979T	PAPSS2	NM_001015880.2(PAPSS2):c.146-97dup	noncoding	Benign
10	87712964	CT	C	T87712978A	PAPSS2	NM_001015880.2(PAPSS2):c.146-97del	noncoding	Benign
10	87713312	TAAAA	T	A87713331G	PAPSS2	NM_001015880.2(PAPSS2):c.381+21_381+24del	noncoding	Benign/Likely_benign
10	87713312	TA	T	A87713334G	PAPSS2	NM_001015880.2(PAPSS2):c.381+24del	noncoding	Benign
10	87713312	T	TAAAAA	G87713335A	PAPSS2	NM_001015880.2(PAPSS2):c.381+20_381+24dup	noncoding	Benign
10	87727476	AC	A	C87727481A	PAPSS2	NM_001015880.2(PAPSS2):c.1078del:p.His360fs	coding	Pathogenic
10	87746116	A	AT	A87746117T	PAPSS2	NM_001015880.2(PAPSS2):c.*146_*147insT	noncoding	Benign
10	87863967	A	AGCG	C87863985G	PTEN	NM_000314.8(PTEN):c.-500GGC[6]	coding	Benign/Likely_benign
10	87863967	A	AGCGGCG	C87863985G	PTEN	NM_000314.8(PTEN):c.-500GGC[7]	coding	Benign/Likely_benign
10	87864484	C	CAAAG	G87864490A	PTEN	NM_000314.8(PTEN):c.17_20dup:p.Ile8fs	coding	Pathogenic
10	87864499	CA	C	A87864500G	PTEN	NM_000314.8(PTEN):c.31del:p.Arg11fs	coding	Pathogenic
10	87864504	ACAAAAGGAGATAT	A	A87864508G	PTEN	NM_000314.8(PTEN):c.39_51del:p.Arg15fs	coding	Pathogenic
10	87864505	CAAAAGGAGATATCA	C	A87864507G	PTEN	NM_000314.8(PTEN):c.38_51del:p.Lys13fs	coding	Pathogenic
10	87864505	CA	C	A87864509G	PTEN	NM_000314.8(PTEN):c.40del:p.Arg14fs	coding	Pathogenic
10	87864505	C	CAA	G87864510A	PTEN	NM_000314.8(PTEN):c.39_40dup:p.Arg14fs	coding	Pathogenic
10	87864508	AAGGAGATATCAAG	A	G87864513T	PTEN	NM_000314.8(PTEN):c.44_56del:p.Arg15fs	coding	Pathogenic
10	87864510	GGA	G	G87864513T	PTEN	NM_000314.8(PTEN):c.44_45del:p.Arg15fs	coding	Pathogenic
10	87864515	T	TATCAAGAGGATGG	T87864531C	PTEN	NM_000314.8(PTEN):c.49_61dup:p.Phe21fs	coding	Pathogenic
10	87864517	TC	AT	T87864517A	PTEN	NM_000314.8(PTEN):c.48_49delinsAT:p.Tyr16_Gln17delinsTer	coding	Pathogenic
10	87864528	G	GA	T87864530A	PTEN	NM_000314.8(PTEN):c.60dup:p.Phe21fs	coding	Pathogenic
10	87894050	GGGAT	G	G87894051T	PTEN	NM_000314.8(PTEN):c.106_109del:p.Gly36fs	coding	Pathogenic
10	87894053	A	AT	C87894057T	PTEN	NM_000314.8(PTEN):c.111dup:p.Pro38fs	coding	Pathogenic
10	87894083	C	CAGGAACAATATTGATGATGT	T87894106G	PTEN	NM_000314.8(PTEN):c.141_160dup:p.Val54delinsGlyThrIleLeuMetMetTer	coding	Pathogenic
10	87894102	G	GTAGTA	A87894108T	PTEN	NM_000314.8(PTEN):c.158_162dup:p.Arg55Ter	coding	Pathogenic
10	87894103	TAGTAA	T	A87894104G	PTEN	NM_000314.8(PTEN):c.159_163del:p.Arg55fs	coding	Pathogenic
10	87894105	G	GT	A87894107T	PTEN	NM_000314.8(PTEN):c.161dup:p.Arg55fs	coding	Pathogenic
10	87894124	A	AT	C87894129T	PTEN	NM_000314.8(PTEN):c.164+19dup	noncoding	Benign
10	87925511	AG	A	G87925513T	PTEN	NM_001304718.2(PTEN):c.-541-5533del	noncoding	Pathogenic
10	87925513	GT	G	T87925518G	PTEN	NM_000314.8(PTEN):c.170del:p.Leu57fs	coding	Pathogenic
10	87925548	T	TA	T87925550A	PTEN	NM_000314.8(PTEN):c.201dup:p.Tyr68fs	coding	Pathogenic
10	87925552	CA	C	A87925554T	PTEN	NM_000314.8(PTEN):c.206del:p.Asn69fs	coding	Pathogenic
10	87931026	CT	C	T87931030A	PTEN	NM_000314.8(PTEN):c.210-16del	noncoding	Benign
10	87931053	GAAAGACATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACTTAAACCCGAT	G	A87931055G	PTEN	NM_000314.8(PTEN):c.219_253+46del	coding	Pathogenic
10	87931057	GACATTATGAC	G	A87931060C	PTEN	NM_000314.8(PTEN):c.224_233del:p.His75fs	coding	Pathogenic
10	87931060	AT	A	T87931062A	PTEN	NM_000314.8(PTEN):c.226del:p.Tyr76fs	coding	Pathogenic/Likely_pathogenic
10	87931081	AT	A	T87931083G	PTEN	NM_000314.8(PTEN):c.247del:p.Cys83fs	coding	Pathogenic
10	87931195	T	TTTATC	A87931199T	PTEN	NM_000314.8(PTEN):c.253+109_253+110insTCTTA	noncoding	Benign
10	87933000	C	CT	A87933006T	PTEN	NM_000314.8(PTEN):c.254-8dup	noncoding	Benign
10	87933014	TGCACAAT	C	T87933014C	PTEN	NM_000314.8(PTEN):c.255_262delinsC:p.Ala86fs	coding	Pathogenic
10	87933018	C	CAA	T87933021A	PTEN	NM_000314.8(PTEN):c.260_261dup:p.Tyr88fs	coding	Pathogenic
10	87933023	T	TCCTTTTGAAG	A87933034C	PTEN	NM_000314.8(PTEN):c.265_274dup:p.Asp92delinsAlaPheTer	coding	Pathogenic
10	87933025	CT	C	T87933029G	PTEN	NM_000314.8(PTEN):c.270del:p.Phe90fs	coding	Pathogenic
10	87933034	AC	A	C87933036A	PTEN	NM_000314.8(PTEN):c.277del:p.His93fs	coding	Pathogenic
10	87933054	GAA	G	A87933055C	PTEN	NM_000314.8(PTEN):c.296_297del:p.Glu99fs	coding	Pathogenic
10	87933059	TA	T	A87933060T	PTEN	NM_000314.8(PTEN):c.301del:p.Ile101fs	coding	Pathogenic
10	87933061	T	TCAAA	C87933067A	PTEN	NM_000314.8(PTEN):c.304_307dup:p.Pro103fs	coding	Pathogenic
10	87933121	C	CA	T87933124A	PTEN	NM_000314.8(PTEN):c.364dup:p.Ile122fs	coding	Pathogenic
10	87933136	CT	C	T87933137G	PTEN	NM_000314.8(PTEN):c.378del:p.Gly127fs	coding	Pathogenic
10	87933178	T	TACATCGGGGCAAATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A87933197T	PTEN	NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATCGGGGCAAATTTTT:p.Leu146delinsPhePhePhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer	coding	Pathogenic
10	87933183	C	CG	C87933188G	PTEN	NM_000314.8(PTEN):c.428dup:p.Lys144fs	coding	Pathogenic
10	87933183	CG	C	G87933187C	PTEN	NM_000314.8(PTEN):c.428del:p.Gly143fs	coding	Pathogenic
10	87933196	TA	T	A87933199G	PTEN	NM_000314.8(PTEN):c.440del:p.Lys147fs	coding	Pathogenic
10	87933199	A	AG	C87933202G	PTEN	NM_000314.8(PTEN):c.442dup:p.Ala148fs	coding	Pathogenic
10	87933204	C	CA	G87933207A	PTEN	NM_000314.8(PTEN):c.447dup:p.Glu150fs	coding	Pathogenic
10	87933208	AG	A	G87933210C	PTEN	NM_000314.8(PTEN):c.451del:p.Ala151fs	coding	Pathogenic
10	87933217	AT	A	T87933220C	PTEN	NM_000314.8(PTEN):c.461del:p.Phe154fs	coding	Pathogenic
10	87933221	CT	C	T87933222A	PTEN	NM_000314.8(PTEN):c.463del:p.Tyr155fs	coding	Pathogenic
10	87933231	GTA	G	T87933232A	PTEN	NM_000314.8(PTEN):c.473_474del:p.Val158fs	coding	Pathogenic
10	87933244	AC	A	C87933245A	PTEN	NM_000314.8(PTEN):c.486del:p.Asp162fs	coding	Pathogenic
10	87952096	CTCTTTTTTTTCTGTCCACCAGGGAG	C	C87952098A	PTEN	NM_000314.8(PTEN):c.493-20_497del	noncoding	Pathogenic
10	87952098	C	CT	C87952107T	PTEN	NM_000314.8(PTEN):c.493-12dup	noncoding	Benign/Likely_benign
10	87952108	TGTCCACCAGGGAGTAACTATTCCCA	T	C87952112A	PTEN	NM_000314.8(PTEN):c.493-6_511del	noncoding	Pathogenic
10	87952112	CACCAGGGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTAT	C	A87952113T	PTEN	NM_000314.8(PTEN):c.493-5_528del	noncoding	Pathogenic
10	87952116	AG	A	G87952119A	PTEN	NC_000010.10:g.89711874del	noncoding	Pathogenic
10	87952116	AG	CC	A87952116C	PTEN	NM_000314.8(PTEN):c.493-2_493-1delinsCC	noncoding	Pathogenic
10	87952125	CTA	C	A87952127T	PTEN	NM_000314.8(PTEN):c.502_503del:p.Ile168fs	coding	Pathogenic
10	87952135	T	TC	A87952137C	PTEN	NM_000314.8(PTEN):c.511dup:p.Gln171fs	coding	Pathogenic
10	87952158	A	ATAGC	C87952165G	PTEN	NM_000314.8(PTEN):c.536_539dup:p.Tyr180Ter	coding	Pathogenic
10	87952170	TAA	T	A87952172G	PTEN	NM_000314.8(PTEN):c.547_548del:p.Lys183fs	coding	Pathogenic
10	87952170	T	TAC	A87952172C	PTEN	NM_000314.8(PTEN):c.546_547insCA:p.Lys183fs	coding	Pathogenic
10	87952174	GA	G	A87952176T	PTEN	NM_000314.8(PTEN):c.551del:p.Asn184fs	coding	Pathogenic
10	87952183	GGATTATA	G	T87952186C	PTEN	NM_000314.8(PTEN):c.561_567del:p.Tyr188fs	coding	Pathogenic
10	87952187	T	TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA	A87952188G	PTEN	NM_000314.8(PTEN):c.562_563insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA:p.Tyr188fs	coding	Pathogenic
10	87952192	AC	A	C87952194A	PTEN	NM_000314.8(PTEN):c.569del:p.Pro190fs	coding	Pathogenic
10	87952193	C	CCAGT	G87952198C	PTEN	NM_000314.8(PTEN):c.569_572dup:p.Ala192fs	coding	Pathogenic
10	87952210	T	TC	A87952212C	PTEN	NM_000314.8(PTEN):c.586dup:p.His196fs	coding	Pathogenic
10	87952213	CA	C	A87952215G	PTEN	NM_000314.8(PTEN):c.590del:p.Lys197fs	coding	Pathogenic
10	87952216	GATGATGTTTGAAACTATTCCAAT	TA	G87952216T	PTEN	NM_000314.8(PTEN):c.591_614delinsTA:p.Lys197fs	coding	Pathogenic
10	87952220	ATGTT	A	T87952223A	PTEN	NM_000314.8(PTEN):c.598_601del:p.Phe200fs	coding	Pathogenic
10	87952240	GT	G	T87952242C	PTEN	NM_000314.8(PTEN):c.617del:p.Phe206fs	coding	Pathogenic
10	87952246	TG	T	G87952248C	PTEN	NM_000314.8(PTEN):c.623del:p.Gly208fs	coding	Pathogenic
10	87952251	GA	G	A87952253C	PTEN	NM_000314.8(PTEN):c.628del:p.Thr210fs	coding	Pathogenic
10	87952258	CAG	C	A87952259T	PTEN	NM_000314.8(PTEN):c.634_634+1del	coding	Pathogenic
10	87957858	CA	C	A87957859G	PTEN	NM_000314.8(PTEN):c.641del:p.Gln214fs	coding	Pathogenic
10	87957858	C	CA	G87957860A	PTEN	NM_000314.8(PTEN):c.641dup:p.Phe215fs	coding	Pathogenic
10	87957859	AGTTTGTG	A	T87957862C	PTEN	NM_000314.8(PTEN):c.644_650del:p.Phe215fs	coding	Pathogenic
10	87957868	TC	T	C87957869T	PTEN	NM_000314.8(PTEN):c.651del:p.Cys218fs	coding	Pathogenic
10	87957875	G	GCT	A87957878C	PTEN	NM_000314.8(PTEN):c.658_659dup:p.Leu220_Lys221insTer	coding	Pathogenic
10	87957876	C	CTA	A87957879T	PTEN	NM_000314.8(PTEN):c.659_660dup:p.Lys221Ter	coding	Pathogenic
10	87957887	G	GAT	T87957894A	PTEN	NM_000314.8(PTEN):c.674_675dup:p.Ser226fs	coding	Pathogenic
10	87957889	T	TA	T87957891A	PTEN	NM_000314.8(PTEN):c.672dup:p.Tyr225fs	coding	Pathogenic
10	87957890	A	AC	T87957891C	PTEN	NM_000314.8(PTEN):c.672_673insC:p.Tyr225fs	coding	Pathogenic
10	87957902	TTCAG	T	T87957903G	PTEN	NM_000314.8(PTEN):c.685_688del:p.Ser229fs	coding	Pathogenic
10	87957905	A	AGG	A87957908G	PTEN	NM_000314.8(PTEN):c.688_689dup:p.Pro231fs	coding	Pathogenic
10	87957926	C	CA	G87957929A	PTEN	NM_000314.8(PTEN):c.710dup:p.Phe238fs	coding	Pathogenic
10	87957937	ACTTTGAGTTC	A	T87957939C	PTEN	NM_000314.8(PTEN):c.721_730del:p.Phe241fs	coding	Pathogenic
10	87957940	T	TGG	T87957941G	PTEN	NM_000314.8(PTEN):c.722_723insGG:p.Phe241fs	coding	Pathogenic
10	87957955	C	CGTA	T87957958A	PTEN	NM_000314.8(PTEN):c.739_740insAGT:p.Leu247Ter	coding	Pathogenic
10	87957973	ATATCAAAG	A	T87957976G	PTEN	NM_000314.8(PTEN):c.758_765del:p.Ile253fs	coding	Pathogenic
10	87957995	CA	C	A87957998C	PTEN	NM_000314.8(PTEN):c.780del:p.Lys260fs	coding	Pathogenic
10	87958001	GAA	G	A87958002C	PTEN	NM_000314.8(PTEN):c.784_785del:p.Asn262fs	coding	Pathogenic
10	87958001	G	GA	C87958004A	PTEN	NM_000314.8(PTEN):c.785dup:p.Asn262fs	coding	Pathogenic
10	87958004	C	CCT	A87958005C	PTEN	NM_000314.8(PTEN):c.786_787insCT:p.Lys263fs	coding	Pathogenic
10	87958007	G	GA	T87958009A	PTEN	NM_000314.8(PTEN):c.790dup:p.Met264fs	coding	Pathogenic
10	87958012	T	TA	G87958019A	PTEN	NM_000314.8(PTEN):c.800dup:p.Asp268fs	coding	Pathogenic
10	87958017	A	ATT	A87958018T	PTEN	NM_000314.8(PTEN):c.799_800insTT:p.Lys267fs	coding	Pathogenic
10	87960876	C	CTTT	A87960892T	PTEN	NM_000314.8(PTEN):c.802-5_802-3dup	noncoding	Benign/Likely_benign
10	87960876	CTT	C	T87960890A	PTEN	NM_000314.8(PTEN):c.802-4_802-3del	noncoding	Benign/Likely_benign
10	87960928	T	TC	A87960930C	PTEN	NM_000314.8(PTEN):c.837dup:p.Ile280fs	coding	Pathogenic
10	87960968	TG	T	G87960970A	PTEN	NM_000314.8(PTEN):c.878del:p.Gly293fs	coding	Pathogenic
10	87961007	T	TATAG	G87961013T	PTEN	NM_000314.8(PTEN):c.917_920dup:p.Glu307fs	coding	Pathogenic
10	87961009	TAG	T	A87961012C	PTEN	NM_000314.8(PTEN):c.920_921del:p.Glu307fs	coding	Pathogenic
10	87961016	T	TG	C87961018G	PTEN	NM_000314.8(PTEN):c.925dup:p.Ala309fs	coding	Pathogenic
10	87961029	AAG	A	A87961030G	PTEN	NM_000314.8(PTEN):c.938_939del:p.Lys313fs	coding	Pathogenic
10	87961048	CTT	C	T87961050A	PTEN	NM_000314.8(PTEN):c.958_959del:p.Leu320fs	coding	Pathogenic
10	87961060	ATGATCT	A	T87961064C	PTEN	NM_000314.8(PTEN):c.972_977del:p.Leu325_Asp326del	coding	Pathogenic/Likely_pathogenic
10	87961079	TAAAG	T	A87961081C	PTEN	NM_000314.8(PTEN):c.989_992del:p.Lys330fs	coding	Pathogenic
10	87961098	T	TA	C87961100A	PTEN	NM_000314.8(PTEN):c.1007dup:p.Tyr336Ter	coding	Pathogenic
10	87965368	A	AGT	A87965372T	PTEN	NM_000314.8(PTEN):c.1110_1111dup:p.Asp371fs	coding	Pathogenic
10	88581290	GTGTGTA	G	G88581292A	RNLS	NM_001031709.3(RNLS):c.367+271_367+276del	noncoding	Benign
10	88581294	G	GTA	C88581317T	RNLS	NM_001031709.3(RNLS):c.367+251TA[12]	noncoding	Benign
10	88761718	GCTATCTATCTAT	G	C88761751G	LIPN	NM_001102469.2(LIPN):c.108+206CTAT[8]	noncoding	Benign
10	88761718	GCTATCTAT	G	C88761755G	LIPN	NM_001102469.2(LIPN):c.108+206CTAT[9]	noncoding	Benign
10	88761718	GCTAT	G	C88761759G	LIPN	NM_001102469.2(LIPN):c.108+206CTAT[10]	noncoding	Benign
10	88761718	G	GCTAT	G88761763C	LIPN	NM_001102469.2(LIPN):c.108+206CTAT[12]	noncoding	Benign
10	88761755	CTATCTATG	C	G88761763C	LIPN	NM_001102469.2(LIPN):c.108+250_108+257del	noncoding	Benign
10	88761759	CTATG	C	G88761763C	LIPN	NM_001102469.2(LIPN):c.108+250_108+253del	noncoding	Benign
10	88761779	TTATCTATC	T	C88761795A	LIPN	NM_001102469.2(LIPN):c.108+267TATC[3]	noncoding	Benign
10	88941783	AC	A	C88941785A	ACTA2	NM_001613.4(ACTA2):c.454+1del	noncoding	Pathogenic
10	89003180	A	ATTAT	G89003181T	FAS	NM_000043.6(FAS):c.182_183insTTAT:p.Lys61fs	coding	Pathogenic
10	89007814	G	GT	A89007816T	FAS	NM_000043.6(FAS):c.312dup:p.Arg105Ter	coding	Pathogenic
10	89008950	CT	C	T89008957G	FAS	NM_000043.6(FAS):c.403del:p.Cys135fs	coding	Pathogenic
10	89010327	CAG	C	A89010330T	FAS	NM_000043.6(FAS):c.444-209_444-208del	noncoding	Benign
10	89010525	A	AT	C89010535T	FAS	NM_000043.6(FAS):c.444-5dup	noncoding	Benign
10	89013347	CA	C	A89013348G	FAS	NM_000043.6(FAS):c.657del:p.Val220fs	coding	Pathogenic
10	89014149	T	TG	T89014150G	FAS	NM_000043.6(FAS):c.707_708insG:p.Ile236fs	coding	Pathogenic
10	89014256	GA	G	A89014258C	FAS	NM_000043.6(FAS):c.816del:p.Glu272fs	coding	Pathogenic
10	89214843	CATTAG	C	G89214848A	LIPA	NM_000235.4(LIPA):c.1180_1184del:p.Leu394fs	coding	Pathogenic
10	89215047	TG	T	G89215048T	LIPA	NM_000235.4(LIPA):c.980del:p.Thr327fs	coding	Pathogenic
10	89222550	AG	A	G89222552A	LIPA	NM_000235.4(LIPA):c.854del:p.Pro285fs	coding	Pathogenic
10	89223646	TA	T	A89223657T	LIPA	NM_000235.4(LIPA):c.822+37del	noncoding	Benign
10	89223646	T	TA	T89223658A	LIPA	NM_000235.4(LIPA):c.822+37dup	noncoding	Benign
10	89223731	TTCCA	T	T89223732C	LIPA	NM_000235.4(LIPA):c.771_774del:p.Leu256_Cys257insTer	coding	Pathogenic
10	89225163	G	GACCC	G89225169C	LIPA	NM_000235.4(LIPA):c.600_603dup:p.Pro202fs	coding	Pathogenic
10	89225310	CGCCCTCTCGCGGA	C	C89225312G	LIPA	NM_000235.4(LIPA):c.539-95_539-83del	noncoding	Benign
10	89227099	AAC	A	C89227103G	LIPA	NM_000235.4(LIPA):c.429-97_429-96del	noncoding	Benign
10	89228314	C	CA	C89228315A	LIPA	NM_000235.4(LIPA):c.313_314insT:p.Gly105fs	coding	Pathogenic
10	89247611	AC	A	C89247613A	LIPA	NM_000235.4(LIPA):c.37del:p.Val13fs	coding	Pathogenic
10	89738145	C	CTAAAAG	G89738150A	KIF20B	NM_001284259.2(KIF20B):c.3308_3309insAGTAAA:p.Lys1103_Glu1104insValLys	coding	Benign
10	90916430	ATG	A	T90916449C	ANKRD1	NM_014391.3(ANKRD1):c.553-181CA[9]	noncoding	Benign
10	90917845	A	AT	A90917850T	ANKRD1	NM_014391.3(ANKRD1):c.454-16dup	noncoding	Benign
10	90918983	AATAAATAAATATATAT	A	A90918987T	ANKRD1	NM_014391.3(ANKRD1):c.346-27_346-12del	noncoding	Benign
10	90918983	AATAAATAAATATATATATAT	A	A90918987T	ANKRD1	NM_014391.3(ANKRD1):c.346-31_346-12del	noncoding	Benign/Likely_benign
10	90918983	AATAAATAAATATATATATATAT	A	A90918987T	ANKRD1	NM_014391.3(ANKRD1):c.346-33_346-12del	noncoding	Benign
10	90918991	AATATAT	A	T90919011G	ANKRD1	NM_014391.3(ANKRD1):c.346-43AT[9]	noncoding	Benign
10	90919113	C	CA	G90919123A	ANKRD1	NM_014391.3(ANKRD1):c.345+17dup	noncoding	Benign
10	90920835	AT	A	T90920845C	ANKRD1	NM_014391.3(ANKRD1):c.27+165del	noncoding	Benign
10	91942298	T	TTG	A91942332G	BTAF1	NM_003972.3(BTAF1):c.254-123TG[17]	noncoding	Benign
10	91942298	T	TTGTGTG	A91942332G	BTAF1	NM_003972.3(BTAF1):c.254-123TG[19]	noncoding	Benign
10	91942298	T	TTGTGTGTG	A91942332G	BTAF1	NM_003972.3(BTAF1):c.254-123TG[20]	noncoding	Benign
10	91959718	A	ATGTG	A91959742G	BTAF1	NM_003972.3(BTAF1):c.991-66TG[13]	noncoding	Benign
10	91959718	A	ATGTGTG	A91959742G	BTAF1	NM_003972.3(BTAF1):c.991-66TG[14]	noncoding	Benign
10	91959738	GTGTATATA	G	G91959740A	BTAF1	NM_003972.3(BTAF1):c.991-45_991-38del	noncoding	Benign
10	91959740	GTATA	G	A91959768T	BTAF1	NM_003972.3(BTAF1):c.991-44TA[13]	noncoding	Benign
10	91959740	GTATATATATA	G	A91959762T	BTAF1	NM_003972.3(BTAF1):c.991-44TA[10]	noncoding	Benign
10	91994299	CA	C	A91994313T	BTAF1	NM_003972.3(BTAF1):c.3200-222del	noncoding	Benign
10	92024731	A	AGTTTTTTT	T92024740G	BTAF1	NM_003972.3(BTAF1):c.4864-24_4864-17dup	noncoding	Benign
10	92593459	AGAG	A	A92593461G	KIF11	NM_004523.4(KIF11):c.77+9_77+11del	noncoding	Benign
10	92606590	A	AT	A92606604T	KIF11	NM_004523.4(KIF11):c.211-16dup	noncoding	Benign
10	92606711	CTT	C	T92606713G	KIF11	NM_004523.4(KIF11):c.305_306del:p.Phe102fs	coding	Pathogenic
10	92607104	AAG	A	A92607107T	KIF11	NM_004523.4(KIF11):c.309-52_309-51del	noncoding	Benign
10	92607185	CTT	C	T92607188A	KIF11	NM_004523.4(KIF11):c.338_339del:p.Phe113fs	coding	Pathogenic
10	92607215	ATGAAG	A	T92607216A	KIF11	NM_004523.4(KIF11):c.366_370del:p.Asn122fs	coding	Pathogenic
10	92609070	AC	A	C92609071T	KIF11	NM_004523.4(KIF11):c.439del:p.Thr148fs	coding	Pathogenic
10	92609303	AGTGTGTGTGTGT	A	G92609332T	KIF11	NM_004523.4(KIF11):c.574-81GT[14]	noncoding	Benign
10	92609411	AG	A	G92609412A	KIF11	NM_004523.4(KIF11):c.601del:p.Glu201fs	coding	Pathogenic
10	92609416	T	TA	T92609417A	KIF11	NM_004523.4(KIF11):c.605_606insA:p.Thr203fs	coding	Pathogenic
10	92609441	C	CT	A92609443T	KIF11	NM_004523.4(KIF11):c.631dup:p.Tyr211fs	coding	Pathogenic
10	92616759	A	ATGTACTT	C92616762T	KIF11	NM_004523.4(KIF11):c.1057_1058insTACTTTG:p.Ala353fs	coding	Pathogenic
10	92616864	CTTG	C	G92616867T	KIF11	NM_004523.4(KIF11):c.1128+35_1128+37del	noncoding	Benign
10	92632670	T	TAGAAGTA	C92632678A	KIF11	NM_004523.4(KIF11):c.1680_1686dup:p.His563fs	coding	Pathogenic
10	92632756	A	ATAATT	T92632763A	KIF11	NM_004523.4(KIF11):c.1702+65_1702+69dup	noncoding	Benign
10	92633687	C	CA	C92633689A	KIF11	NM_004523.4(KIF11):c.1768dup:p.Thr590fs	coding	Pathogenic
10	92633788	AATTG	A	A92633793T	KIF11	NM_004523.4(KIF11):c.1873_1875+1del	coding	Pathogenic
10	92633931	ACAGT	A	G92633934T	KIF11	NM_004523.4(KIF11):c.1875+139_1875+142del	noncoding	Benign
10	92637032	CAA	C	A92637052G	KIF11	NM_004523.4(KIF11):c.1876-132_1876-131del	noncoding	Benign
10	92637032	CA	C	A92637053G	KIF11	NM_004523.4(KIF11):c.1876-131del	noncoding	Benign
10	92637032	C	CA	G92637054A	KIF11	NM_004523.4(KIF11):c.1876-131dup	noncoding	Benign
10	92637277	AT	A	T92637281C	KIF11	NM_004523.4(KIF11):c.1973del:p.Phe658fs	coding	Pathogenic
10	92637396	C	CA	G92637404A	KIF11	NM_004523.4(KIF11):c.2018dup:p.Glu674fs	coding	Pathogenic
10	92637433	G	GT	A92637435T	KIF11	NM_004523.4(KIF11):c.2049dup:p.Asn684Ter	coding	Pathogenic
10	92637486	CA	C	A92637490G	KIF11	NM_004523.4(KIF11):c.2105del:p.Lys702fs	coding	Pathogenic
10	92645396	TCA	T	C92645399G	KIF11	NM_004523.4(KIF11):c.2304_2305del:p.His768fs	coding	Pathogenic
10	92645444	CAG	C	G92645446A	KIF11	NM_004523.4(KIF11):c.2351_2352del:p.Arg784fs	coding	Pathogenic
10	92645494	ACT	A	C92645497G	KIF11	NM_004523.4(KIF11):c.2402_2403del:p.His800_Ser801insTer	coding	Pathogenic
10	92645535	GA	G	A92645536G	KIF11	NM_004523.4(KIF11):c.2441del:p.Glu814fs	coding	Pathogenic
10	92645536	A	ATTCTT	G92645537T	KIF11	NM_004523.4(KIF11):c.2441_2442insTTCTT:p.Glu814fs	coding	Pathogenic
10	92645598	TCTTC	T	C92645602A	KIF11	NM_004523.4(KIF11):c.2507_2510del:p.Ser835_Ser836insTer	coding	Pathogenic
10	92645605	TAAATG	T	T92645609G	KIF11	NM_004523.4(KIF11):c.2514_2518del:p.Asn838fs	coding	Pathogenic
10	92645613	AG	A	G92645616A	KIF11	NM_004523.4(KIF11):c.2521del:p.Glu841fs	coding	Pathogenic
10	92648108	CA	C	A92648122T	KIF11	NM_004523.4(KIF11):c.2548-90del	noncoding	Benign
10	92648108	C	CAAAAAA	T92648123A	KIF11	NM_004523.4(KIF11):c.2548-95_2548-90dup	noncoding	Benign
10	92648422	GA	G	A92648423T	KIF11	NM_004523.4(KIF11):c.2759del:p.Asp920fs	coding	Pathogenic
10	92649839	GAC	ATTAATGTCCGTTAAAGGT	G92649839A	KIF11	NM_004523.4(KIF11):c.2775_2777delinsATTAATGTCCGTTAAAGGT:p.Thr926fs	coding	Pathogenic
10	92650408	A	ATG	A92650412G	KIF11	NM_004523.4(KIF11):c.2932_2933dup:p.Val978_Glu979insTer	coding	Pathogenic
10	93601089	C	CGG	C93601091G	RBP4	NM_006744.4(RBP4):c.-18-44_-18-43insCC	noncoding	Benign
10	93620699	CG	C	G93620700A	PDE6C	NM_006204.4(PDE6C):c.549del:p.Ile184fs	coding	Pathogenic
10	93637058	AT	A	T93637062G	PDE6C	NM_006204.4(PDE6C):c.1481del:p.Ile493_Leu494insTer	coding	Pathogenic
10	93640546	AC	A	C93640547T	PDE6C	NM_006204.4(PDE6C):c.1727del:p.Thr576fs	coding	Pathogenic
10	93640910	AT	A	T93640917A	PDE6C	NM_006204.4(PDE6C):c.1738-3del	noncoding	Benign
10	93645981	AC	A	C93645982T	PDE6C	NM_006204.4(PDE6C):c.1870del:p.Leu624fs	coding	Pathogenic
10	93646030	ACT	A	C93646033G	PDE6C	NM_006204.4(PDE6C):c.1921_1922del:p.Leu641fs	coding	Pathogenic
10	93658917	CA	C	A93658923T	PDE6C	NM_006204.4(PDE6C):c.2059del:p.Ile687fs	coding	Pathogenic
10	93658998	GAGATT	G	G93659000T	PDE6C	NM_006204.4(PDE6C):c.2136_2140del:p.Glu712fs	coding	Pathogenic
10	93659083	AT	A	T93659089G	PDE6C	NM_006204.4(PDE6C):c.2145-15del	noncoding	Benign
10	93662639	ATAAGG	A	G93662644T	PDE6C	NM_006204.4(PDE6C):c.2367+1_2367+5del	coding	Pathogenic/Likely_pathogenic
10	93663104	TA	T	A93663105G	PDE6C	NM_006204.4(PDE6C):c.2445del:p.Ala816fs	coding	Pathogenic
10	93685309	T	TTAAA	C93685310T	FRA10AC1	NM_145246.5(FRA10AC1):c.561_562insTTTA:p.Ser188fs	coding	Pathogenic
10	93687418	ACTT	A	C93687422T	FRA10AC1	NM_145246.5(FRA10AC1):c.491AAG[1]:p.Glu165del	coding	Pathogenic
10	93699997	TGAAAAATAGATCAATAAAAAAAAATTACTTACCTTTTTTTCCTTTTGCTGGATTCTCCACAGCGTTCATCATCACTAAAATCAGAATCATAGCCTCCATGACCATGCATCTGTAAAGGAGTACAAAGTCAGCTATTTAGAATCTATGTTGCCAATTGTCCAGGAAACAATAATTCAAAAATAAGTTATCTTAAACAGCCACAATAGTTTTAAAGGATCATTGTGGGCAGATTCCTATTCACAGGCCATCTAGCCATCTAAAACTTTCATTCGCTTTTAAATAAGAGACATACCTTTCAGGAAATGCATCAACATTTTTCACCCTTAATTATCATTAGGTGAACAAAGAAGGCTACTCTTTGATCTTTTCACTGAAAAACCAGGCCTAAAAGCTGCAGTGACTGCTTACAAGGTTTAGCAATCCTTCACTTTTGATTCAGAGTAGTAATAATCACTGTGTGTTTATCACCAACTTTGTTCTAGACATTGTGTTAAATACTTTACAAACAACACTTCTAATTCTGCAAGTTAGAAAGTTATCTTCATTTAGGAATGAAGTAATCAAAGTTAAGTAAATCTATTTACAAATCCAGTAAGTGGCTAATCTGCTGTACTTGATTCCTGCGCCCACAATTTCAATTACTCCAAATTTCCTCTCTGGAATATGATTTACTATATTCCAGGAGAATTACAGTATTTGTGAACAGTACATCATCAATTGATGAAAATTTTCCTGTAATCTTTTTCAATATATGTAGAGATTTCCATTTTCTTTTGAGTTTCTTTAAGGTAAACCACCTTGCCCTTTGGATTAGTCAGCTTTCTCTTGTTTCATTTTATTTATCCAGTTATTTTTGGAGAGTCTCGCTCTATTGCTCAGGCTGGAGTGCTGTGGCGCCTTGATGGCTCACATCCTCAACCTCCTGGGCTCAATCAATCCTCCCACCTCAGCCTCTCCAAGTAGCTGAGACTACAGGAGTGCATAATCACACCTGGCAAACTTAAAAAAATTTTTTTTTTGTAGATAAGGGGTTTCGCCATGTTGCCCACGCCGGTCTCAAACTCCTGGGCTTGAGCAATCCGTCCACCTCAGCATCCCAAAATGCTGGGACTTCATTTTAGAACTGAAATTCTTAGAAATGCTGGAAGACCTCAGTTGCCACTCAATTGTATTGGAAGAAGCTCCTAGTTCCAGCTTTGCACTGAATTTGGAACACACACTAAGAAGGAAGGATGGACTATTTGATGTCATACATAACTAATTTACATGGCTGGAAGGAACAGTCCAGGTTAAATGATATATCAAATTGTTAAAACTAATATAACGACAGCAAGTGCAGCTGGAAAAAGAGGAAAGAACTCTCTAAACTTCATTGCATTGGATCTAGGGTAAACGACATGTTTCTAGTCCTGGCTACCTTGAATAAGTCATTTCATCTCCCTGGACTTCATCTATTAAATAAGATAGCTACATGAAATAATCTTTAAGTTGTTTAAATCTTTAAATAACCTTTAAAGTCTGTAATTCCATTTTCAAACATAGGTGTGTGGGTATATACCTCTCTTCTCTGCCCCACTAAAATCCTAGATAGGAAGATGCTAGTTAAGGTTGGAGATGAAGGTTTGAAAGCCCGAGTTCCAACTCTACCCTCCCTTACATCTGTTATTGCCTTACACACCTGGATTTTACACCCTTTTTTAGGTCAACTCCAGCTGTCTTACCACATCTGTTCAAGCCATATTGTCCTCTCACTCTTTGTCCTATGTCCTCACGTTCTTTACATCTTGATGGGGGACAGCTGTAGTGTGTTTAGAGATATATTCTAGGATCAGCCTACTAGATTTCACTGCTTGGCTCTGCACTTTCCATTTGTCTTTCTTTGGGCCTGTTCCTTAACCTCTCCAAGCCTCAGTGTCCTCATTTATAAAAAGAGGCTAGTAAGATGGCTGACCTCATACGAATGGAGATTAAAAGAGTTGCCTCATCTAAAGGGTTTTAACGGTGTCTTGTACAGTGAAACCCAGTAAATGTTACATCATCATCATCATCTTTTCCCTCGCCCCAGGACACGACTTCCTATTCTTGCTCCCACTCTCCCATTTCTTTATTCGCTGGCCGCTCCATCCGACCCATACCTATCTTAACTCACTGGTTGAACTAAAAAGCTCTCACTCACTTCAGGCCTACGAATCAACTGACAAGAGCGGGGAGAAACTCAAAAACGGAGATGCCAGGTGTCTCCAGAATCTGTCATCCAAAAAAAAAAAAACCAAACCAAAACAAAAAAAAACCCGACGATCAGCTAGTACTATATGAAAAACAAGTTTTGAGGTCCTTCTCCCTGATGCCAAATATACCCACAGCCCTCCTCACACACCCTTTCCCTTCCTCCCTGTGTGCCAAGTTCGCCCCCGGAGTCGTCGTTTCCTTCTTTCCCGGCAGCTGCAGCGACGACCCACGGCCTGAGAGAGCCGCTGCAGCACAGGTCCCGTGCGCCCTGCCGCACAGCCTCGCCACAACCACCACCGCCGCCGCCGCCGCCGCCGCCGCCCGCAACCCGCCTCTCCCTACGGGTCCCGACTGGGCACCACTTCCGGTCCGACACGGCCACGTGTTACATCTAAATGGCACCGTCCCCCGAGTGCGCCGACCTTGTGCTACAGCCAGAACAGCTCCGGGAAACAAGGGCAGCGGGAGAAACGGCCCGGAAAGGGACGAAGAGGCTTCCAGCTTTCGCCAAGTCGCGGCTCCCAGTTTTTCCCTGGGCCTCCTTCCTTTCCCCTCTAGGGAATCCGGCATCTAGTACCGCTGGCACTGCTTGCTGCTTAGCCCACGCCTCTCATTTGAAAATATATTTTGTTTTACCGTGCCTATCACCTGCCGTCCTCTCTCTAGTAACCTTAGTAACGCCTCCTCGGAG	T	A93700000T	FRA10AC1	NM_001347714.2(FRA10AC1):c.-269_77+32del	noncoding	Pathogenic
10	93758249	GA	G	A93758252C	LGI1	NM_005097.4(LGI1):c.108del:p.Lys36fs	coding	Pathogenic
10	93777419	GC	G	C93777420T	LGI1	NM_005097.4(LGI1):c.329del:p.Ala110fs	coding	Pathogenic
10	93790079	C	CT	C93790095T	LGI1	NM_005097.4(LGI1):c.432-5dup	noncoding	Benign/Likely_benign
10	93790079	C	CTT	C93790095T	LGI1	NM_005097.4(LGI1):c.432-6_432-5dup	noncoding	Benign
10	93790079	C	CTTT	C93790095T	LGI1	NM_005097.4(LGI1):c.432-7_432-5dup	noncoding	Benign
10	93790107	C	CA	C93790111A	LGI1	NM_005097.4(LGI1):c.443dup:p.Asn148fs	coding	Pathogenic
10	93790111	CAACA	C	A93790113T	LGI1	NM_005097.4(LGI1):c.446_449del:p.Asn149fs	coding	Pathogenic
10	93792844	GC	G	C93792850A	LGI1	NM_005097.4(LGI1):c.611del:p.Pro204fs	coding	Pathogenic
10	93792845	CC	A	C93792845A	LGI1	NM_005097.4(LGI1):c.606_607delinsA:p.Pro204fs	coding	Pathogenic
10	93797569	GC	G	C93797571T	LGI1	NM_005097.4(LGI1):c.1442del:p.Pro481fs	coding	Pathogenic
10	93797727	G	GT	A93797729T	LGI1	NM_005097.4(LGI1):c.1599dup:p.Asn534Ter	coding	Pathogenic
10	94030532	TA	T	A94030542T	PLCE1	NM_016341.4(PLCE1):c.-364-141del	noncoding	Benign
10	94246030	AC	A	C94246031A	PLCE1	NM_016341.4(PLCE1):c.2506del:p.Gln836fs	coding	Pathogenic
10	94262861	GT	G	T94262872G	PLCE1	NM_016341.4(PLCE1):c.4053+140del	noncoding	Benign
10	94265865	A	AC	T94265870C	PLCE1	NM_016341.4(PLCE1):c.4192dup:p.Leu1398fs	coding	Pathogenic
10	94269009	T	TA	C94269011A	PLCE1	NM_016341.4(PLCE1):c.4363dup:p.Thr1455fs	coding	Pathogenic
10	94287212	C	CATTT	T94287213A	PLCE1	NM_016341.4(PLCE1):c.5035+2247_5035+2248insATTT	noncoding	Benign
10	94298573	T	TA	C94298575A	PLCE1	NM_016341.4(PLCE1):c.5363dup:p.Tyr1788Ter	coding	Pathogenic
10	94312972	ATGAG	A	G94312974A	PLCE1	NM_016341.4(PLCE1):c.6004-280_6004-277del	noncoding	Benign
10	94313116	CTA	C	T94313117G	PLCE1	NM_016341.4(PLCE1):c.6004-137_6004-136del	noncoding	Benign
10	94321629	GA	G	A94321646C	PLCE1	NM_016341.4(PLCE1):c.6343-255del	noncoding	Benign
10	94321629	G	GA	C94321647A	PLCE1	NM_016341.4(PLCE1):c.6343-255dup	noncoding	Benign
10	94324615	A	AT	A94324617T	PLCE1	NM_016341.4(PLCE1):c.6720+49dup	noncoding	Benign
10	94324908	AAAAG	A	A94324913G	PLCE1	NM_016341.4(PLCE1):c.6742_6745del:p.Lys2248fs	coding	Pathogenic
10	94546439	GAAGAGGAAGA	G	A94546441C	HELLS	NM_018063.5(HELLS):c.96_105del:p.Glu32fs	coding	Pathogenic
10	94562798	A	AT	A94562808T	HELLS	NM_018063.5(HELLS):c.371-5dup	noncoding	Benign
10	94596849	A	AT	A94596858T	HELLS	NM_018063.5(HELLS):c.2249-3dup	noncoding	Benign
10	94597124	CT	C	T94597132A	HELLS	NM_018063.5(HELLS):c.2422+21del	noncoding	Benign
10	95613661	TTATATGGTATGGC	T	A95613663G	ALDH18A1	NM_002860.4(ALDH18A1):c.1923+68_1923+80del	noncoding	Benign
10	95614178	GA	G	A95614183G	ALDH18A1	NM_002860.4(ALDH18A1):c.1606-18del	noncoding	Benign/Likely_benign
10	95621320	C	CTT	G95621338T	ALDH18A1	NM_002860.4(ALDH18A1):c.1247-86_1247-85dup	noncoding	Benign
10	95621320	CTTTT	C	T95621334G	ALDH18A1	NM_002860.4(ALDH18A1):c.1247-73_1247-70del	noncoding	Benign
10	95625601	TCACTTATTCCCAC	T	T95625606G	ALDH18A1	NM_002860.4(ALDH18A1):c.1153-159_1153-147del	noncoding	Benign
10	95656385	TTGCAGCGCGCCCTGGGCGGCCCGA	T	G95656392C	ALDH18A1	NM_002860.4(ALDH18A1):c.-29+188_-29+211del	noncoding	Benign
10	95664468	GA	G	A95664471T	TCTN3	NM_015631.6(TCTN3):c.1591-169del	noncoding	Benign
10	95680286	C	CA	T95680288A	TCTN3	NM_015631.6(TCTN3):c.1590+185dup	noncoding	Benign
10	95680341	CACT	C	A95680342T	TCTN3	NM_015631.6(TCTN3):c.1590+128_1590+130del	noncoding	Benign
10	95680541	T	TA	C95680543A	TCTN3	NM_015631.6(TCTN3):c.1520dup:p.Gly508fs	coding	Pathogenic
10	95680736	GA	G	A95680738C	TCTN3	NM_015631.6(TCTN3):c.1453-128del	noncoding	Benign
10	95683963	T	TA	T95683970A	TCTN3	NM_015631.6(TCTN3):c.1096-340dup	noncoding	Benign
10	95685613	GGTAA	G	A95685617T	TCTN3	NM_015631.6(TCTN3):c.908_911del:p.Leu303fs	coding	Pathogenic
10	95685744	CCT	C	C95685755T	TCTN3	NM_015631.6(TCTN3):c.889-120AG[5]	noncoding	Benign
10	95687141	CT	C	T95687145A	TCTN3	NM_015631.6(TCTN3):c.754del:p.Ser252fs	coding	Pathogenic
10	95687264	GCA	G	C95687267G	TCTN3	NM_015631.6(TCTN3):c.717_718del:p.Cys239_Ala240insTer	coding	Pathogenic
10	95687272	TC	T	C95687277A	TCTN3	NM_015631.6(TCTN3):c.710del:p.Gly237fs	coding	Pathogenic
10	95687329	GAAGT	G	T95687337A	TCTN3	NM_015631.6(TCTN3):c.650_653del:p.Tyr217fs	coding	Pathogenic
10	95693391	CGGAT	C	T95693395G	TCTN3	NM_015631.6(TCTN3):c.338_341del:p.His113fs	coding	Pathogenic
10	95693455	TCA	T	C95693458G	TCTN3	NM_015631.6(TCTN3):c.276_277del:p.Cys92_Asp93delinsTer	coding	Pathogenic
10	95693717	A	AG	C95693720G	TCTN3	NM_015631.6(TCTN3):c.182dup:p.Gly62fs	coding	Pathogenic
10	95694421	TAAA	T	A95694433C	TCTN3	Single_allele	noncoding	Benign
10	95694421	TA	T	A95694435C	TCTN3	Single_allele	noncoding	Benign
10	95694424	A	ATT	A95694425T	TCTN3	Single_allele	noncoding	Benign
10	95756521	GT	G	T95756528A	ENTPD1	NM_001776.6(ENTPD1):c.16+273del	coding	Benign
10	95842694	TA	T	A95842704G	ENTPD1	NM_001776.6(ENTPD1):c.413+210del	noncoding	Benign
10	96192322	CTACT	C	C96192325G	BLNK	NM_013314.4(BLNK):c.1252-234_1252-231del	noncoding	Benign
10	96197079	TA	T	A96197085C	BLNK	NM_013314.4(BLNK):c.1096-17del	noncoding	Benign
10	96200138	CT	C	T96200140G	BLNK	NM_013314.4(BLNK):c.1031del:p.Lys344fs	coding	Pathogenic
10	96203782	TA	T	A96203795G	BLNK	NM_013314.4(BLNK):c.934+274del	noncoding	Benign
10	96215403	A	ATG	A96215413G	BLNK	NM_013314.4(BLNK):c.608-22CA[5]	noncoding	Benign
10	96215411	GTA	G	T96215430C	BLNK	NM_013314.4(BLNK):c.608-42TA[9]	noncoding	Benign
10	96215411	GTATA	G	T96215428C	BLNK	NM_013314.4(BLNK):c.608-42TA[8]	noncoding	Benign
10	96227140	GTTGT	G	G96227167A	BLNK	NM_013314.4(BLNK):c.361+242ACAA[6]	noncoding	Benign
10	97584709	G	GGGTCT	C97584714T	HOGA1	NM_138413.4(HOGA1):c.10_11insTGGTC:p.Pro4fs	coding	Pathogenic/Likely_pathogenic
10	97584768	TG	T	G97584773T	HOGA1	NM_138413.4(HOGA1):c.70del:p.Val24fs	coding	Pathogenic
10	97584819	A	AC	T97584826C	HOGA1	NM_138413.4(HOGA1):c.122dup:p.Val42fs	coding	Pathogenic/Likely_pathogenic
10	97584889	CA	C	A97584892C	HOGA1	NM_138413.4(HOGA1):c.189del:p.Lys63fs	coding	Pathogenic
10	97599132	CG	C	G97599136C	HOGA1	NM_138413.4(HOGA1):c.388del:p.Ala130fs	coding	Pathogenic
10	97599143	CG	C	G97599145C	HOGA1	NM_138413.4(HOGA1):c.397del:p.Ala133fs	coding	Pathogenic
10	97599193	GC	G	C97599196T	HOGA1	NM_138413.4(HOGA1):c.448del:p.Leu150fs	coding	Pathogenic/Likely_pathogenic
10	97599783	AT	A	T97599784A	HOGA1	NM_138413.4(HOGA1):c.573del:p.Asn191fs	coding	Pathogenic
10	97601842	T	TCTTA	C97601850A	HOGA1	NM_138413.4(HOGA1):c.701-11_701-8dup	noncoding	Benign/Likely_benign
10	97611578	CT	C	T97611579G	HOGA1	NM_138413.4(HOGA1):c.904del:p.Cys302fs	coding	Pathogenic
10	97745171	G	GTTCT	T97745186C	ZFYVE27	NM_001385875.1(ZFYVE27):c.455+257TTCT[4]	noncoding	Benign
10	98417416	G	GGGTTTTAGACCATGGA	G98417419T	HPS1	NM_000195.5(HPS1):c.*147_*148insTCCATGGTCTAAAACC	noncoding	Benign
10	98418189	TC	T	C98418192A	HPS1	NM_000195.5(HPS1):c.1925del:p.Gly642fs	coding	Pathogenic/Likely_pathogenic
10	98418227	C	CG	C98418231G	HPS1	NM_000195.5(HPS1):c.1887dup:p.Val630fs	coding	Pathogenic
10	98422445	G	GC	A98422448C	HPS1	NM_000195.5(HPS1):c.1666dup:p.Ala556fs	coding	Pathogenic
10	98423811	T	TG	C98423817G	HPS1	NM_000195.5(HPS1):c.1473dup:p.Ser492fs	coding	Pathogenic
10	98423825	AGAAAGTTCAGCCGGTAGATG	A	A98423827C	HPS1	NM_000195.5(HPS1):c.1440_1459del:p.Ile481fs	coding	Pathogenic
10	98425577	GTCCA	G	A98425581T	HPS1	NM_000195.5(HPS1):c.1295_1298del:p.Met432fs	coding	Pathogenic
10	98425666	TG	T	G98425668A	HPS1	NM_000195.5(HPS1):c.1209del:p.Met404fs	coding	Pathogenic
10	98425882	A	AG	C98425888G	HPS1	NM_000195.5(HPS1):c.1090dup:p.Leu364fs	coding	Pathogenic
10	98426926	T	TAA	T98426937A	HPS1	NM_000195.5(HPS1):c.987+279_987+280dup	noncoding	Benign
10	98426996	GA	G	A98426997G	HPS1	NM_000195.5(HPS1):c.987+218del	noncoding	Benign
10	98429588	CA	C	A98429589G	HPS1	NM_000195.5(HPS1):c.921del:p.Gly308fs	coding	Pathogenic
10	98429811	C	CA	G98429813A	HPS1	NM_000195.5(HPS1):c.846dup:p.Gly283fs	coding	Pathogenic
10	98429877	T	TC	G98429880C	HPS1	NM_000195.5(HPS1):c.780dup:p.Arg261fs	coding	Pathogenic
10	98431179	AG	A	G98431182C	HPS1	NM_000195.5(HPS1):c.619del:p.Leu207fs	coding	Pathogenic
10	98435672	GAGAA	G	A98435673G	HPS1	NM_000195.5(HPS1):c.214_217del:p.Phe72fs	coding	Pathogenic
10	98435776	CA	C	A98435781T	HPS1	NM_000195.5(HPS1):c.118-5del	noncoding	Benign
10	98443140	TCTGA	T	A98443144C	HPS1	NM_000195.5(HPS1):c.97_100del:p.Ser33fs	coding	Pathogenic
10	98459926	AC	A	C98459933A	HPSE2	NM_021828.5(HPSE2):c.1614-188del	noncoding	Benign
10	98490262	GACACACACAC	G	A98490283G	HPSE2	NM_021828.5(HPSE2):c.1321-96GT[10]	noncoding	Benign
10	98490262	GACACAC	G	A98490287G	HPSE2	NM_021828.5(HPSE2):c.1321-96GT[12]	noncoding	Benign
10	98614701	A	ATG	T98614727G	HPSE2	NM_021828.5(HPSE2):c.1320+179CA[13]	noncoding	Benign
10	98693965	A	AAAAAAGATAT	T98693976A	HPSE2	NM_021828.5(HPSE2):c.957-28_957-19dup	noncoding	Benign
10	98721558	A	AAAAT	C98721585A	HPSE2	NM_021828.5(HPSE2):c.956+75ATTT[7]	noncoding	Benign
10	98721926	GA	G	A98721937C	HPSE2	NM_021828.5(HPSE2):c.785-99del	noncoding	Benign
10	98743693	GT	G	T98743694G	HPSE2	NM_021828.5(HPSE2):c.784+189del	noncoding	Benign
10	99232214	TACACACACACAC	T	A99232245G	HPSE2	NM_021828.5(HPSE2):c.448+92GT[15]	noncoding	Benign
10	99232214	TACACAC	T	A99232251G	HPSE2	NM_021828.5(HPSE2):c.448+92GT[18]	noncoding	Benign
10	99232214	TACAC	T	A99232253G	HPSE2	NM_021828.5(HPSE2):c.448+92GT[19]	noncoding	Benign
10	99232214	TAC	T	A99232255G	HPSE2	NM_021828.5(HPSE2):c.448+92GT[20]	noncoding	Benign
10	99232214	T	TACAC	G99232257A	HPSE2	NM_021828.5(HPSE2):c.448+92GT[23]	noncoding	Benign
10	99232214	T	TAC	G99232257A	HPSE2	NM_021828.5(HPSE2):c.448+92GT[22]	noncoding	Benign
10	99235966	TCTCG	T	C99235983T	HPSE2	Single_allele	noncoding	Benign
10	99235999	C	CT	A99236012T	HPSE2	Single_allele	noncoding	Benign
10	99236023	A	AT	C99236034T	HPSE2	Single_allele	noncoding	Benign
10	99329172	C	CA	C99329173A	CNNM1	Single_allele	noncoding	Benign
10	99718243	T	TC	T99718246C	COX15	NM_078470.6(COX15):c.987+101dup	noncoding	Benign
10	99720792	T	TG	T99720793G	COX15	NM_078470.6(COX15):c.832+194_832+195insC	noncoding	Benign
10	99720793	T	TG	T99720794G	COX15	NM_078470.6(COX15):c.832+193_832+194insC	noncoding	Benign
10	99720847	C	CAG	G99720850A	COX15	NM_078470.6(COX15):c.832+138_832+139dup	noncoding	Benign
10	99726887	C	CA	C99726907A	COX15	NM_078470.6(COX15):c.582+62dup	noncoding	Benign
10	99729459	CAAAA	C	A99729476T	COX15	NM_078470.6(COX15):c.272+90_272+93del	noncoding	Benign
10	99729459	CAAA	C	A99729477T	COX15	NM_078470.6(COX15):c.272+91_272+93del	noncoding	Benign
10	99729459	CA	C	A99729479T	COX15	NM_078470.6(COX15):c.272+93del	noncoding	Benign
10	99793565	G	GATCCA	A99793573C	ABCC2	NM_000392.5(ABCC2):c.351_355dup:p.Tyr119fs	coding	Pathogenic
10	99794152	G	GAGT	A99794157G	ABCC2	NM_000392.5(ABCC2):c.576+155_576+157dup	noncoding	Benign
10	99819199	C	CA	G99819206A	ABCC2	NM_000392.5(ABCC2):c.2556dup:p.Gly853fs	coding	Pathogenic
10	99832400	AAC	A	C99832402G	ABCC2	NM_000392.5(ABCC2):c.3258+271_3258+272del	noncoding	Benign
10	99832402	C	CTGTGTGT	A99832403T	ABCC2	NM_000392.5(ABCC2):c.3258+271_3258+272insTGTGTGT	noncoding	Benign
10	99841987	A	AG	C99841989G	ABCC2	NM_000392.5(ABCC2):c.3636dup:p.Leu1213fs	coding	Pathogenic
10	100081452	T	TC	T100081454C	CPN1	NM_001308.3(CPN1):c.173dup:p.His59fs	coding	Pathogenic
10	100154828	A	AT	C100154830T	ERLIN1	NM_006459.4(ERLIN1):c.825+31dup	noncoding	Benign
10	100156251	TAAG	T	A100156256C	ERLIN1	NM_006459.4(ERLIN1):c.656-20_656-18del	noncoding	Benign
10	100167234	TA	T	A100167236G	ERLIN1	NM_006459.4(ERLIN1):c.563+113del	noncoding	Benign
10	100174322	A	AT	A100174331T	ERLIN1	NM_006459.4(ERLIN1):c.431-49dup	noncoding	Benign
10	100207009	TA	T	A100207012T	CHUK	NM_001278.5(CHUK):c.1231+220del	noncoding	Benign
10	100217983	A	AT	A100217986T	CHUK	NM_001278.5(CHUK):c.933+11dup	noncoding	Benign
10	100220378	AG	A	G100220379C	CHUK	NM_001278.5(CHUK):c.474+209del	noncoding	Benign
10	100220814	T	TA	G100220815A	CHUK	NM_001278.5(CHUK):c.386-139_386-138insT	noncoding	Benign
10	100253431	GC	G	C100253433T	CWF19L1	NM_018294.6(CWF19L1):c.612del:p.Arg204fs	coding	Pathogenic
10	100253438	A	AT	A100253440T	CWF19L1	NM_018294.6(CWF19L1):c.605dup:p.Tyr202Ter	coding	Pathogenic
10	100256298	TG	T	G100256302A	CWF19L1	NM_018294.6(CWF19L1):c.467del:p.Pro156fs	coding	Pathogenic/Likely_pathogenic
10	100746294	GCGATGCACCGTGAGTACCGGCGCCCGGCTCCTGTC	TGT	G100746294T	PAX2	NM_000278.5(PAX2):c.34_43+26delinsTGT	coding	Pathogenic
10	100750870	C	CTGCT	C100750871T	PAX2	NM_000278.5(PAX2):c.389_390insTGCT:p.Ser131fs	coding	Pathogenic
10	100779569	CT	C	T100779570G	PAX2	NM_000278.5(PAX2):c.483del:p.Gly162fs	coding	Pathogenic
10	100779580	ATT	TCTTCCCTGA	A100779580T	PAX2	NM_000278.5(PAX2):c.493_495delinsTCTTCCCTGA:p.Ile165fs	coding	Pathogenic
10	100781011	TA	T	A100781014C	PAX2	NM_000278.5(PAX2):c.497-232del	noncoding	Benign
10	100806565	CTGACGTCTTCCAGGCATCAGAGCACATCAAATCAGAACAGG	C	C100806569G	PAX2	NM_000278.5(PAX2):c.756_792+4del	coding	Pathogenic
10	100824353	TACACAC	T	C100824391A	PAX2	NM_000278.5(PAX2):c.920-294AC[18]	noncoding	Benign
10	100824353	T	TAC	A100824397C	PAX2	NM_000278.5(PAX2):c.920-294AC[22]	noncoding	Benign
10	100824353	T	TACAC	A100824397C	PAX2	NM_000278.5(PAX2):c.920-294AC[23]	noncoding	Benign
10	100824353	T	TACACAC	A100824397C	PAX2	NM_000278.5(PAX2):c.920-294AC[24]	noncoding	Benign
10	100824353	T	TACACACAC	A100824397C	PAX2	NM_000278.5(PAX2):c.920-294AC[25]	noncoding	Benign
10	100824353	T	TACACACACAC	A100824397C	PAX2	NM_000278.5(PAX2):c.920-294AC[26]	noncoding	Benign
10	100991002	TCAGC	T	G100991005A	TWNK	NM_021830.5(TWNK):c.1729_1732del:p.Ala577fs	coding	Pathogenic
10	101010320	T	TG	T101010325G	PDZD7	NM_001195263.2(PDZD7):c.2568dup:p.Ser857fs	coding	Pathogenic
10	101010426	AG	A	G101010431T	PDZD7	NM_001195263.2(PDZD7):c.2462del:p.Pro821fs	coding	Pathogenic
10	101010540	GCGGCTGCGGCTGCGGCTA	G	G101010552A	PDZD7	NM_001195263.2(PDZD7):c.2331_2348del:p.773_774RS[3]	coding	Benign/Likely_benign
10	101010668	CG	C	G101010674T	PDZD7	NM_001195263.2(PDZD7):c.2220del:p.Val741fs	coding	Pathogenic
10	101010677	GC	G	C101010678T	PDZD7	NM_001195263.2(PDZD7):c.2211del:p.Gln737fs	coding	Pathogenic
10	101010685	GGGGGTGTGCA	G	G101010688C	PDZD7	NM_001195263.2(PDZD7):c.2194_2203del:p.Cys732fs	coding	Pathogenic
10	101010706	AG	A	G101010712T	PDZD7	NM_001195263.2(PDZD7):c.2182del:p.Leu728fs	coding	Pathogenic
10	101010740	GA	G	A101010741G	PDZD7	NM_001195263.2(PDZD7):c.2148del:p.Leu717fs	coding	Pathogenic
10	101010799	GC	G	C101010804A	PDZD7	NM_001195263.2(PDZD7):c.2089del:p.Ala697fs	coding	Pathogenic/Likely_pathogenic
10	101010920	C	CCCTCCCAGACTGGACCA	T101010925C	PDZD7	NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG	noncoding	Benign
10	101011050	C	CTTAT	G101011065A	PDZD7	NM_001195263.2(PDZD7):c.2006-179ATAA[4]	noncoding	Benign
10	101015464	ATGTG	A	T101015489A	PDZD7	NM_001195263.2(PDZD7):c.1749+144CA[12]	noncoding	Benign
10	101015464	ATGTGTG	A	T101015487A	PDZD7	NM_001195263.2(PDZD7):c.1749+144CA[11]	noncoding	Benign
10	101015592	CT	C	T101015593G	PDZD7	NM_001195263.2(PDZD7):c.1749+43del	noncoding	Benign
10	101015729	C	CT	G101015731T	PDZD7	NM_001195263.2(PDZD7):c.1655dup:p.Ala553fs	coding	Pathogenic
10	101016420	G	GC	T101016426C	PDZD7	NM_001195263.2(PDZD7):c.1529dup:p.Val511fs	coding	Pathogenic
10	101018810	TC	T	C101018815A	PDZD7	NM_001195263.2(PDZD7):c.1324+11del	noncoding	Benign
10	101018923	AG	A	G101018925C	PDZD7	NM_001195263.2(PDZD7):c.1222del:p.Asp409fs	coding	Pathogenic
10	101018998	C	CA	G101019000A	PDZD7	NM_001195263.2(PDZD7):c.1147dup:p.Trp383fs	coding	Pathogenic
10	101019045	GT	G	T101019046C	PDZD7	NM_001195263.2(PDZD7):c.1100del:p.Asp367fs	coding	Pathogenic
10	101020627	G	GC	A101020630C	PDZD7	NM_001195263.2(PDZD7):c.918dup:p.Leu307fs	coding	Pathogenic
10	101022398	AG	A	G101022403C	PDZD7	NM_001195263.2(PDZD7):c.543-14del	noncoding	Benign
10	101023545	TG	T	G101023547T	PDZD7	NM_001195263.2(PDZD7):c.432del:p.Thr145fs	coding	Pathogenic
10	101586183	CTGTTG	C	G101586185A	POLL	NM_001174084.2(POLL):c.116-32_116-28del	noncoding	Benign
10	101770141	TAAAAAAAAAAAA	T	A101770153C	FGF8	NM_033163.5(FGF8):c.*176_*187del	noncoding	Benign
10	101770141	TA	T	A101770164C	FGF8	NM_033163.5(FGF8):c.*187del	noncoding	Benign
10	101770141	T	TA	C101770165A	FGF8	NM_033163.5(FGF8):c.*187dup	noncoding	Benign
10	102065523	G	GGCGGC	T102065539G	HPS6	NM_024747.6(HPS6):c.60_64dup:p.Leu22fs	coding	Pathogenic
10	102065939	A	AGCAGCCGCTT	T102065950G	HPS6	NM_024747.6(HPS6):c.466_475dup:p.Phe159fs	coding	Pathogenic
10	102066175	GTC	G	T102066180C	HPS6	NM_024747.6(HPS6):c.706_707del:p.Ser236fs	coding	Pathogenic/Likely_pathogenic
10	102230765	C	CGGCCCTGCAGGGTCTGG	C102230767G	PITX3	NM_005029.4(PITX3):c.657_658insCCAGACCCTGCAGGGCC:p.Gly220fs	coding	Pathogenic
10	102230785	C	CCA	G102230788C	PITX3	NM_005029.4(PITX3):c.636_637dup:p.Gly213fs	coding	Pathogenic
10	102397405	ACGGGTATGGGTGCAGGGGGTGGGT	A	C102397430G	NFKB2	NM_001322934.2(NFKB2):c.502+22_502+45del	coding	Benign
10	102400198	C	CG	C102400204G	NFKB2	NM_001322934.2(NFKB2):c.1584+9dup	noncoding	Benign
10	102402272	G	GCGTA	G102402279T	NFKB2	NM_001322934.2(NFKB2):c.2602_2605dup:p.Gly869fs	coding	Pathogenic
10	102504174	GGCGCCCCCGGCCCCACC	G	A102504189T	SUFU	NM_016169.4(SUFU):c.37_53del:p.Thr13fs	coding	Pathogenic
10	102504174	G	GGCGCCCCCGGCCCCACC	T102504206A	SUFU	NM_016169.4(SUFU):c.37_53dup:p.Gly19fs	coding	Pathogenic
10	102504199	CGGCCCCT	C	C102504205G	SUFU	NM_016169.4(SUFU):c.53_59del:p.Pro18fs	coding	Pathogenic
10	102504201	GC	G	C102504205T	SUFU	NM_016169.4(SUFU):c.53del:p.Pro18fs	coding	Pathogenic
10	102504223	C	CG	C102504226G	SUFU	NM_016169.4(SUFU):c.73dup:p.Ala25fs	coding	Pathogenic
10	102504226	CCTTCG	C	T102504234C	SUFU	NM_016169.4(SUFU):c.82_86del:p.Ser28fs	coding	Pathogenic
10	102504310	AG	A	G102504312T	SUFU	NM_016169.4(SUFU):c.160del:p.Val54fs	coding	Pathogenic
10	102592605	CA	C	A102592606T	SUFU	NM_016169.4(SUFU):c.479del:p.His160fs	coding	Pathogenic
10	102592700	C	CT	G102592704T	SUFU	NM_016169.4(SUFU):c.576dup:p.Gly193fs	coding	Pathogenic
10	102597239	G	GAGGAC	C102597247G	SUFU	NM_016169.4(SUFU):c.859_863dup:p.Ser288fs	coding	Pathogenic
10	102597270	A	AGCCCCGT	G102597277T	SUFU	NM_016169.4(SUFU):c.893_894insTGCCCCG:p.Arg299fs	coding	Pathogenic
10	102599453	AC	A	C102599456T	SUFU	NM_016169.4(SUFU):c.934del:p.Thr311_Leu312insTer	coding	Pathogenic
10	102599537	CG	C	G102599540C	SUFU	NM_016169.4(SUFU):c.1018del:p.Ala340fs	coding	Pathogenic
10	102615321	AG	A	G102615322C	SUFU	NM_016169.4(SUFU):c.1077del:p.Glu359fs	coding	Pathogenic
10	102615366	AC	A	C102615368A	SUFU	NM_016169.4(SUFU):c.1123del:p.Gln375fs	coding	Pathogenic
10	102645199	A	ACG	A102645213G	TRIM8	NM_030912.3(TRIM8):c.570+13CG[7]	noncoding	Benign
10	102645199	A	ACGCG	A102645213G	TRIM8	NM_030912.3(TRIM8):c.570+13CG[8]	noncoding	Benign
10	102656088	CTT	C	T102656091C	TRIM8	NM_030912.3(TRIM8):c.901-15_901-14del	noncoding	Benign
10	102656858	GT	G	T102656861C	TRIM8	NM_030912.3(TRIM8):c.1163del:p.Phe388fs	coding	Pathogenic/Likely_pathogenic
10	102656890	GGCCAGTACGGGGCGGCGGGCACA	G	T102656896C	TRIM8	NM_030912.3(TRIM8):c.1198_1220del:p.Tyr400fs	coding	Pathogenic
10	102699322	TAA	T	A102699323C	ARL3	NM_004311.4(ARL3):c.264+49_264+50del	noncoding	Benign
10	102830915	TC	T	C102830917T	CYP17A1	NM_000102.4(CYP17A1):c.1313del:p.Gly438fs	coding	Pathogenic
10	102831079	AGGGAACCCTGATCTGAGGATGTAGCCTTATTATGG	A	T102831088C	CYP17A1	NM_000102.4(CYP17A1):c.1244-129_1244-95del	noncoding	Benign
10	102832594	CAGG	C	G102832600A	CYP17A1	NM_000102.4(CYP17A1):c.1050CCT[1]:p.Leu353del	coding	Pathogenic
10	102833112	AG	A	G102833113T	CYP17A1	NM_000102.4(CYP17A1):c.849del:p.Ser284fs	coding	Pathogenic
10	102834036	CT	C	T102834038G	CYP17A1	NM_000102.4(CYP17A1):c.752del:p.Lys251fs	coding	Pathogenic
10	102834872	AG	A	G102834875T	CYP17A1	NM_000102.4(CYP17A1):c.578del:p.Pro193fs	coding	Pathogenic
10	102835011	CAA	C	A102835013C	CYP17A1	NM_000102.4(CYP17A1):c.438_439del:p.Ile146fs	coding	Pathogenic
10	102835330	G	GTGTGCGC	C102835338T	CYP17A1	NM_000102.4(CYP17A1):c.353_359dup:p.His120fs	coding	Pathogenic
10	102837261	AG	A	G102837264A	CYP17A1	NM_000102.4(CYP17A1):c.100del:p.Leu34fs	coding	Pathogenic
10	102837298	AC	A	C102837300T	CYP17A1	NM_000102.4(CYP17A1):c.63del:p.Arg21fs	coding	Pathogenic
10	102837317	CAAAT	C	A102837320G	CYP17A1	NM_000102.4(CYP17A1):c.41_44del:p.Tyr14fs	coding	Pathogenic
10	102919434	ACTG	A	C102919441G	CNNM2	NM_017649.5(CNNM2):c.955CTG[2]:p.Leu321del	coding	Pathogenic
10	102920376	A	AT	G102920390T	CNNM2	NM_017649.5(CNNM2):c.1621+288dup	noncoding	Benign
10	102927124	GTAGT	G	G102927127C	CNNM2	NM_017649.5(CNNM2):c.1621+7026_1621+7029del	noncoding	Benign
10	103054404	GTGA	G	T103054405G	CNNM2	NM_017649.5(CNNM2):c.1842_1844del:p.Ser614_Glu615delinsArg	coding	Pathogenic
10	103089733	TG	T	G103089739C	NT5C2	NM_001351169.2(NT5C2):c.1624del:p.Gln542fs	coding	Pathogenic
10	103090864	TAATA	T	A103090868C	NT5C2	NM_001351169.2(NT5C2):c.1272+68_1272+71del	noncoding	Benign
10	103094247	T	TA	T103094260A	NT5C2	NM_001351169.2(NT5C2):c.921+89dup	noncoding	Benign
10	103097007	CAA	C	A103097009G	NT5C2	NM_001351169.2(NT5C2):c.771+282_771+283del	noncoding	Benign
10	103099929	GT	G	T103099930A	NT5C2	NM_001351169.2(NT5C2):c.629del:p.Tyr210fs	coding	Pathogenic
10	103174639	CAA	C	A103174641G	NT5C2	NM_001351169.2(NT5C2):c.101+217_101+218del	noncoding	Benign
10	103181335	C	CA	T103181350A	NT5C2	NM_001351169.2(NT5C2):c.-168-8dup	noncoding	Benign
10	104034055	G	GC	A104034060C	COL17A1	NM_000494.4(COL17A1):c.4045dup:p.Ala1349fs	coding	Pathogenic
10	104034200	CAG	C	G104034202T	COL17A1	NM_000494.4(COL17A1):c.3899_3900del:p.Ser1300fs	coding	Pathogenic
10	104034272	C	CG	A104034273G	COL17A1	NM_000494.4(COL17A1):c.3828_3829insC:p.Gly1277fs	coding	Pathogenic
10	104034273	A	AG	T104034279G	COL17A1	NM_000494.4(COL17A1):c.3827dup:p.Gly1277fs	coding	Pathogenic
10	104034700	C	CG	C104034706G	COL17A1	NM_000494.4(COL17A1):c.3686dup:p.Val1231fs	coding	Pathogenic
10	104037287	A	AT	G104037302T	COL17A1	NM_000494.4(COL17A1):c.3209-188dup	noncoding	Benign
10	104037287	A	ATT	G104037302T	COL17A1	NM_000494.4(COL17A1):c.3209-188_3209-187dup	noncoding	Benign
10	104037287	AT	A	T104037301G	COL17A1	NM_000494.4(COL17A1):c.3209-175del	noncoding	Benign
10	104037935	TA	T	A104037938T	COL17A1	NM_000494.4(COL17A1):c.3071-163del	noncoding	Benign
10	104038231	TACACACACACACACACACACAC	T	A104038260T	COL17A1	NM_000494.4(COL17A1):c.3070+125GT[14]	noncoding	Benign
10	104038231	TACACACACACACACACACAC	T	A104038262T	COL17A1	NM_000494.4(COL17A1):c.3070+125GT[15]	noncoding	Benign
10	104038231	TACACACACACAC	T	A104038270T	COL17A1	NM_000494.4(COL17A1):c.3070+125GT[19]	noncoding	Benign
10	104038231	TACACACACAC	T	A104038272T	COL17A1	NM_000494.4(COL17A1):c.3070+125GT[20]	noncoding	Benign
10	104038231	TACAC	T	A104038278T	COL17A1	NM_000494.4(COL17A1):c.3070+125GT[23]	noncoding	Benign
10	104038231	TAC	T	A104038280T	COL17A1	NM_000494.4(COL17A1):c.3070+125GT[24]	noncoding	Benign
10	104039479	GC	G	C104039481T	COL17A1	NM_000494.4(COL17A1):c.2861del:p.Gly954fs	coding	Pathogenic
10	104039496	GGTTGA	G	T104039499C	COL17A1	NM_000494.4(COL17A1):c.2840_2844del:p.Leu947fs	coding	Pathogenic
10	104039766	CCA	C	A104039794G	COL17A1	NM_000494.4(COL17A1):c.2789-154TG[13]	noncoding	Benign
10	104039766	CCACACA	C	A104039790G	COL17A1	NM_000494.4(COL17A1):c.2789-154TG[11]	noncoding	Benign
10	104039794	ACG	A	G104039796A	COL17A1	NM_000494.4(COL17A1):c.2789-156_2789-155del	noncoding	Benign
10	104040570	G	GTGGA	A104040600G	COL17A1	NM_000494.4(COL17A1):c.2702-188TCCA[8]	noncoding	Benign
10	104040586	ATGGATGGATGGATAGG	A	A104040600G	COL17A1	NM_000494.4(COL17A1):c.2702-192_2702-177del	noncoding	Benign
10	104040590	ATGGATGGATAGG	A	A104040600G	COL17A1	NM_000494.4(COL17A1):c.2702-192_2702-181del	noncoding	Benign
10	104041513	T	TG	A104041519G	COL17A1	NM_000494.4(COL17A1):c.2576dup:p.Gly860fs	coding	Pathogenic
10	104043511	TGGAGGTCCTGGGGGTCCCATGGCTCCA	T	T104043526G	COL17A1	NM_000494.4(COL17A1):c.2478_2504del:p.Met829_Ala837del	coding	Benign/Likely_benign
10	104043547	TG	T	G104043553C	COL17A1	NM_000494.4(COL17A1):c.2468del:p.Pro823fs	coding	Pathogenic
10	104048097	AGCAGGACCTG	CAA	A104048097C	COL17A1	NM_000494.4(COL17A1):c.2228-3_2235delinsTTG	coding	Pathogenic/Likely_pathogenic
10	104055443	G	GTC	A104055446T	COL17A1	NM_000494.4(COL17A1):c.1688-44_1688-43dup	noncoding	Benign
10	104055896	G	GGA	G104055900A	COL17A1	NM_000494.4(COL17A1):c.1571_1572dup:p.Gln525fs	coding	Pathogenic
10	104059680	CT	C	T104059682G	COL17A1	NM_000494.4(COL17A1):c.1179del:p.Ala394fs	coding	Pathogenic
10	104071956	G	GCA	G104071977C	COL17A1	NM_000494.4(COL17A1):c.463+56TG[11]	noncoding	Benign
10	104072075	ACT	A	C104072080G	COL17A1	NM_000494.3(COL17A1):c.418_419del	coding	Pathogenic
10	104077699	TTTTTG	T	G104077734A	COL17A1	NM_000494.4(COL17A1):c.98-208CAAAA[6]	noncoding	Benign
10	104077699	TTTTTGTTTTG	T	G104077729A	COL17A1	NM_000494.4(COL17A1):c.98-208CAAAA[5]	noncoding	Benign
10	104392289	GA	G	A104392296T	CFAP58	NM_001008723.2(CFAP58):c.1429del:p.Lys476_Ile477insTer	coding	Pathogenic
10	104403735	GT	G	T104403741C	CFAP58	NM_001008723.2(CFAP58):c.2052del:p.His685fs	coding	Pathogenic
10	110117328	G	GT	C110117338T	ADD3	NM_016824.5(ADD3):c.487-5dup	noncoding	Benign
10	110125956	GTCT	G	T110125960A	ADD3	NM_016824.5(ADD3):c.1521+15_1521+17del	noncoding	Benign
10	110279981	TA	T	A110279984G	MXI1	NM_130439.3(MXI1):c.623del:p.Lys208fs	coding	Pathogenic
10	110567920	C	CA	C110567921A	SMC3	NM_005445.4(SMC3):c.15+89_15+90insA	noncoding	Benign
10	110568767	C	CT	A110568781T	SMC3	NM_005445.4(SMC3):c.16-158dup	noncoding	Benign
10	110568767	C	CTTT	A110568781T	SMC3	NM_005445.4(SMC3):c.16-160_16-158dup	noncoding	Benign
10	110568859	AAAAC	A	A110568862G	SMC3	NM_005445.4(SMC3):c.16-76_16-73del	noncoding	Benign
10	110568892	A	AT	G110568901T	SMC3	NM_005445.4(SMC3):c.16-38dup	noncoding	Benign
10	110569234	CTAGG	C	G110569238C	SMC3	NM_005445.4(SMC3):c.91+225_91+228del	noncoding	Benign
10	110573408	A	ATAT	A110573412T	SMC3	NM_005445.4(SMC3):c.92-298_92-296dup	noncoding	Benign
10	110573575	C	CTGT	T110573580G	SMC3	NM_005445.4(SMC3):c.92-130_92-128dup	noncoding	Benign
10	110582091	TTGA	T	T110582095G	SMC3	NM_005445.4(SMC3):c.717TGA[1]:p.Asp240del	coding	Pathogenic
10	110582355	CTTGTAG	C	T110582363A	SMC3	NM_005445.4(SMC3):c.724-199_724-194del	noncoding	Benign
10	110596222	CA	C	A110596242T	SMC3	NM_005445.4(SMC3):c.1964-156del	noncoding	Benign
10	110596222	C	CA	T110596243A	SMC3	NM_005445.4(SMC3):c.1964-156dup	noncoding	Benign
10	110596488	CAGA	C	G110596496C	SMC3	NM_005445.4(SMC3):c.2056GAA[2]:p.Glu688del	coding	Benign/Likely_benign
10	110596862	GT	G	T110596875C	SMC3	NM_005445.4(SMC3):c.2116+325del	noncoding	Benign
10	110598410	C	CT	G110598422T	SMC3	NM_005445.4(SMC3):c.2268+131dup	noncoding	Benign
10	110599453	TCTGCCCCACC	T	C110599464T	SMC3	NM_005445.4(SMC3):c.2269-190_2269-181del	noncoding	Benign
10	110600015	C	CA	T110600017A	SMC3	NM_005445.4(SMC3):c.2427+204dup	noncoding	Benign
10	110602817	A	AT	A110602823T	SMC3	NM_005445.4(SMC3):c.3298-3dup	noncoding	Benign
10	110603448	G	GT	A110603452T	SMC3	NM_005445.4(SMC3):c.3582+161dup	noncoding	Benign
10	110644599	CAG	C	A110644600C	RBM20	NM_001134363.3(RBM20):c.146_147del:p.Gln49fs	coding	Benign/Likely_benign
10	110780620	GT	G	T110780637A	RBM20	NM_001134363.3(RBM20):c.192-164del	noncoding	Benign
10	110780620	GTT	G	T110780636A	RBM20	NM_001134363.3(RBM20):c.192-165_192-164del	noncoding	Benign
10	110797296	A	AAT	A110797312T	RBM20	NM_001134363.3(RBM20):c.1528-211AT[8]	noncoding	Benign
10	110823431	CTTTTTTT	C	T110823452G	RBM20	NM_001134363.3(RBM20):c.3317-28_3317-22del	noncoding	Benign
10	110823431	CTTTTTTTTT	C	T110823450G	RBM20	NM_001134363.3(RBM20):c.3317-30_3317-22del	noncoding	Benign
10	110823431	CTTTTTTTTTTTTT	C	T110823446G	RBM20	NM_001134363.3(RBM20):c.3317-34_3317-22del	noncoding	Benign
10	110823431	CTTTTTTTTTTTTTT	C	T110823445G	RBM20	NM_001134363.3(RBM20):c.3317-35_3317-22del	noncoding	Benign
10	110823884	AT	A	T110823891A	RBM20	NM_001134363.3(RBM20):c.3451+277del	noncoding	Benign
10	110823893	A	AT	G110823908T	RBM20	NM_001134363.3(RBM20):c.3451+293dup	noncoding	Benign
10	110918114	A	AT	A110918119T	BBIP1	NM_001195305.3(BBIP1):c.37+3dup	noncoding	Benign
10	110965075	GATT	G	A110965085T	SHOC2	NM_007373.4(SHOC2):c.703+15ATT[3]	noncoding	Benign/Likely_benign
10	112950403	TC	T	C112950412T	TCF7L2	NM_001367943.1(TCF7L2):c.-345del	noncoding	Benign
10	112950449	G	GT	A112950464T	TCF7L2	NM_001367943.1(TCF7L2):c.-294dup	noncoding	Benign
10	112951110	AC	A	C112951118T	TCF7L2	NM_001367943.1(TCF7L2):c.190-89del	noncoding	Benign
10	112951893	A	AG	A112951902G	TCF7L2	NM_001367943.1(TCF7L2):c.381+294dup	noncoding	Benign
10	112951913	C	CT	C112951917T	TCF7L2	NM_001367943.1(TCF7L2):c.381+309dup	noncoding	Benign
10	112964711	GATA	G	A112964714G	TCF7L2	NM_001367943.1(TCF7L2):c.450+90_450+92del	noncoding	Benign
10	112964739	A	ATGATGGTGG	G112964742A	TCF7L2	NM_001367943.1(TCF7L2):c.450+117_450+118insATGGTGGTG	noncoding	Benign
10	112964760	ATGG	A	G112964775A	TCF7L2	NM_001367943.1(TCF7L2):c.450+137TGG[4]	noncoding	Benign
10	112964811	GT	G	T112964812G	TCF7L2	NM_001367943.1(TCF7L2):c.450+188del	noncoding	Benign
10	113141435	TG	T	G113141442C	TCF7L2	NM_001367943.1(TCF7L2):c.685+126del	noncoding	Benign
10	113144088	CTGTGTGTGTGTCTGTGTGTGTGTG	C	C113144100G	TCF7L2	NM_001367943.1(TCF7L2):c.788+75_788+98del	noncoding	Benign
10	113144100	C	CTG	A113144138G	TCF7L2	NM_001367943.1(TCF7L2):c.788+76TG[19]	noncoding	Benign
10	113144100	CTG	C	G113144136A	TCF7L2	NM_001367943.1(TCF7L2):c.788+76TG[17]	noncoding	Benign
10	113144100	CTGTG	C	G113144134A	TCF7L2	NM_001367943.1(TCF7L2):c.788+76TG[16]	noncoding	Benign
10	113144100	CTGTGTG	C	G113144132A	TCF7L2	NM_001367943.1(TCF7L2):c.788+76TG[15]	noncoding	Benign
10	113144100	CTGTGTGTG	C	G113144130A	TCF7L2	NM_001367943.1(TCF7L2):c.788+76TG[14]	noncoding	Benign
10	113144100	CTGTGTGTGTG	C	G113144128A	TCF7L2	NM_001367943.1(TCF7L2):c.788+76TG[13]	noncoding	Benign
10	113150908	G	GT	C113150920T	TCF7L2	NM_001367943.1(TCF7L2):c.876-79dup	noncoding	Benign
10	113574545	C	CT	C113574554T	HABP2	NM_004132.5(HABP2):c.223+148dup	noncoding	Benign
10	113579094	CA	C	A113579110T	HABP2	NM_004132.5(HABP2):c.740+312del	noncoding	Benign
10	113579094	C	CA	T113579111A	HABP2	NM_004132.5(HABP2):c.740+312dup	noncoding	Benign
10	113588967	GA	G	A113588968C	NRAP;HABP2	NM_004132.5(HABP2):c.*599del	noncoding	Benign/Likely_benign
10	113589638	AG	A	G113589642T	NRAP	NM_198060.4(NRAP):c.5088+27del	noncoding	Benign
10	113595412	G	GC	A113595416C	NRAP	NM_198060.4(NRAP):c.4536+208dup	noncoding	Benign
10	113597372	CA	C	A113597373T	NRAP	NM_198060.4(NRAP):c.4333-189del	noncoding	Benign
10	113631323	TA	T	A113631332T	NRAP	NM_198060.4(NRAP):c.1842+185del	noncoding	Benign
10	113641272	AT	A	T113641281A	NRAP	NM_198060.4(NRAP):c.1323+92del	noncoding	Benign
10	113645944	G	GAA	C113645955A	NRAP	NM_198060.4(NRAP):c.994-13_994-12dup	noncoding	Benign
10	113645944	G	GA	C113645955A	NRAP	NM_198060.4(NRAP):c.994-13dup	noncoding	Benign/Likely_benign
10	113654078	TCCTGGGCA	T	T113654081A	NRAP	NM_198060.4(NRAP):c.400_407del:p.Cys134fs	coding	Pathogenic
10	113663616	CT	C	T113663627G	NRAP	NM_198060.4(NRAP):c.73-171del	noncoding	Benign
10	116064501	GT	G	T116064503A	GFRA1	NM_005264.8(GFRA1):c.1294del:p.Thr432fs	coding	Pathogenic
10	117138120	GC	G	C117138121G	VAX1	NM_001112704.2(VAX1):c.-65del	noncoding	Benign
10	117244052	CT	TG	C117244052T	SLC18A2	NM_003054.6(SLC18A2):c.203_204delinsTG:p.Thr68Met	coding	Benign
10	117284532	AAACT	A	T117284536A	PDZD8	NM_173791.5(PDZD8):c.2197_2200del:p.Val732_Ser733insTer	coding	Pathogenic
10	117545800	G	GA	C117545801A	EMX2	NM_004098.4(EMX2):c.575_576insA:p.Ser192fs	coding	Pathogenic
10	119141464	AT	A	T119141475A	SFXN4	NM_213649.2(SFXN4):c.937-146del	noncoding	Benign
10	119141464	ATT	A	T119141474A	SFXN4	NM_213649.2(SFXN4):c.937-147_937-146del	noncoding	Benign
10	119147661	T	TG	A119147665G	SFXN4	NM_213649.2(SFXN4):c.818+111dup	noncoding	Benign
10	119154902	CT	C	T119154904A	SFXN4	NM_213649.2(SFXN4):c.732+159del	noncoding	Benign
10	119159537	TGGGGAG	T	G119159546A	SFXN4	NM_213649.2(SFXN4):c.360+185_360+190del	noncoding	Benign
10	119164268	C	CT	C119164284T	SFXN4	NM_213649.2(SFXN4):c.112-87dup	noncoding	Benign
10	119164268	C	CTT	C119164284T	SFXN4	NM_213649.2(SFXN4):c.112-87_112-86dup	noncoding	Benign
10	119164268	C	CTTT	C119164284T	SFXN4	NM_213649.2(SFXN4):c.112-87_112-85dup	noncoding	Benign
10	119164268	C	CTTTT	C119164284T	SFXN4	NM_213649.2(SFXN4):c.112-87_112-84dup	noncoding	Benign
10	119173843	G	GC	A119173845C	PRDX3	NM_006793.5(PRDX3):c.340dup:p.Ala114fs	coding	Pathogenic
10	119651703	ATGCAGGT	A	T119651704G	BAG3	NM_004281.4(BAG3):c.29_35del:p.Met10fs	coding	Pathogenic
10	119651711	G	GGC	T119651715C	BAG3	NM_004281.4(BAG3):c.38_39dup:p.Ser14fs	coding	Pathogenic
10	119651734	ACCCTTTGCCCC	A	C119651737G	BAG3	NM_004281.4(BAG3):c.62_72del:p.Pro21fs	coding	Pathogenic
10	119651741	GC	G	C119651747G	BAG3	NM_004281.4(BAG3):c.72del:p.Gly25fs	coding	Pathogenic/Likely_pathogenic
10	119651837	GC	G	C119651840T	BAG3	NM_004281.4(BAG3):c.165del:p.Ser56fs	coding	Pathogenic
10	119651845	AG	A	G119651848C	BAG3	NM_004281.4(BAG3):c.173del:p.Gly58fs	coding	Pathogenic
10	119669999	CTT	C	T119670001C	BAG3	NM_004281.4(BAG3):c.331_332del:p.Phe111fs	coding	Pathogenic
10	119670012	T	TCCCCAGCCTTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGC	G119670022T	BAG3	NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT:p.Gly118fs	coding	Pathogenic
10	119670050	C	CAG	C119670053A	BAG3	NM_004281.4(BAG3):c.381_382dup:p.Ala128fs	coding	Pathogenic
10	119670077	CACCTCTG	C	A119670078C	BAG3	NM_004281.4(BAG3):c.408_414del:p.Pro137fs	coding	Pathogenic
10	119670118	CAG	C	A119670119T	BAG3	NM_004281.4(BAG3):c.449_450del:p.Gln150fs	coding	Pathogenic
10	119670153	GC	G	C119670158A	BAG3	NM_004281.4(BAG3):c.488del:p.Pro163fs	coding	Pathogenic
10	119672253	AGC	A	C119672255G	BAG3	NM_004281.4(BAG3):c.508_509delCG:p.Arg170fs	noncoding	Pathogenic
10	119672274	CCT	C	C119672277G	BAG3	NM_004281.4(BAG3):c.530_531del:p.Ala176_Ser177insTer	coding	Pathogenic
10	119672277	C	CT	G119672279T	BAG3	NM_004281.4(BAG3):c.531dup:p.Asp178Ter	coding	Pathogenic
10	119672399	CG	C	G119672401C	BAG3	NM_004281.4(BAG3):c.654del:p.Pro219fs	coding	Pathogenic
10	119672471	AC	A	C119672474A	BAG3	NM_004281.4(BAG3):c.727del:p.His243fs	coding	Pathogenic
10	119672498	CA	C	A119672499G	BAG3	NM_004281.4(BAG3):c.752del:p.Gln251fs	coding	Pathogenic
10	119672570	AG	A	G119672571C	BAG3	NM_004281.4(BAG3):c.824del:p.Ser275fs	coding	Pathogenic
10	119672648	AG	A	G119672650C	BAG3	NM_004281.4(BAG3):c.903del:p.Arg301fs	coding	Pathogenic
10	119676466	GC	G	C119676469A	BAG3	NM_004281.4(BAG3):c.915del:p.Pro305_Met306insTer	coding	Pathogenic
10	119676579	TC	T	C119676581G	BAG3	NM_004281.4(BAG3):c.1027del:p.Arg343fs	coding	Pathogenic
10	119676608	TC	T	C119676611A	BAG3	NM_004281.4(BAG3):c.1057del:p.Gln353fs	coding	Pathogenic
10	119676688	TG	T	G119676690C	BAG3	NM_004281.4(BAG3):c.1136del:p.Gly379fs	coding	Pathogenic
10	119676701	GTCCCCTCT	G	T119676707C	BAG3	NM_004281.4(BAG3):c.1153_1160del:p.Ser385fs	coding	Pathogenic
10	119676732	AAG	A	A119676737G	BAG3	NM_004281.4(BAG3):c.1183_1184del:p.Arg395fs	coding	Pathogenic
10	119676755	GC	G	C119676759T	BAG3	NM_004281.4(BAG3):c.1205del:p.Pro402fs	coding	Pathogenic
10	119676797	G	GCT	C119676801T	BAG3	NM_004281.4(BAG3):c.1245_1246dup:p.Pro416fs	coding	Pathogenic
10	119676810	A	AT	C119676812T	BAG3	NM_004281.4(BAG3):c.1257dup:p.Pro420fs	coding	Pathogenic/Likely_pathogenic
10	119676810	AT	A	T119676811C	BAG3	NM_004281.4(BAG3):c.1257del:p.Pro420fs	coding	Pathogenic
10	119676869	GTA	G	T119676870G	BAG3	NM_004281.4(BAG3):c.1316_1317del:p.Val439fs	coding	Pathogenic
10	119676877	C	CT	G119676881T	BAG3	NM_004281.4(BAG3):c.1326dup:p.Glu443Ter	coding	Pathogenic
10	119676897	AC	A	C119676898A	BAG3	NM_004281.4(BAG3):c.1344del:p.Asp448fs	coding	Pathogenic
10	120859954	TACAC	T	A120859975G	WDR11	NM_018117.12(WDR11):c.353-154AC[10]	noncoding	Benign
10	120859954	TAC	T	A120859977G	WDR11	NM_018117.12(WDR11):c.353-154AC[11]	noncoding	Benign
10	120865357	G	GT	G120865366T	WDR11	NM_018117.12(WDR11):c.879+153dup	noncoding	Benign
10	120866356	AGTT	A	G120866360A	WDR11	NM_018117.12(WDR11):c.995-209_995-207del	noncoding	Benign
10	120871308	CA	C	A120871314C	WDR11	NM_018117.12(WDR11):c.1439del:p.Asn480fs	coding	Pathogenic
10	120871365	C	CT	A120871377T	WDR11	NM_018117.12(WDR11):c.1471+30dup	noncoding	Benign
10	120871494	TA	T	A120871507T	WDR11	NM_018117.12(WDR11):c.1471+161del	noncoding	Benign
10	120880656	C	CA	C120880668A	WDR11	NM_018117.12(WDR11):c.1664-159dup	noncoding	Benign
10	120886648	G	GA	C120886658A	WDR11	NM_018117.12(WDR11):c.1974-32dup	noncoding	Benign
10	120890187	GATTT	G	A120890212T	WDR11	NM_018117.12(WDR11):c.2343+179ATTT[6]	noncoding	Benign
10	120891117	C	CTT	G120891122T	WDR11	NM_018117.12(WDR11):c.2515+233_2515+234dup	noncoding	Benign
10	120903510	CA	C	A120903523G	WDR11	NM_018117.12(WDR11):c.2931+291del	noncoding	Benign
10	120904413	AC	A	C120904414A	WDR11	NM_018117.12(WDR11):c.3028-232del	noncoding	Benign
10	120904643	TAGAC	T	C120904651G	WDR11	NM_018117.12(WDR11):c.3033_3036del	noncoding	Pathogenic
10	120908276	A	ATGGGAGAATC	G120908283A	WDR11	NM_018117.12(WDR11):c.3518-274_3518-273insAATCTGGGAG	noncoding	Benign
10	120908841	T	TAAGA	C120908846A	WDR11	NM_018117.12(WDR11):c.*129_*132dup	noncoding	Benign
10	121481827	C	CTTTTT	A121481834T	FGFR2	NM_000141.5(FGFR2):c.2302-1811_2302-1807dup	noncoding	Benign
10	121484148	C	CT	G121484150T	FGFR2	NM_000141.5(FGFR2):c.2196-346dup	noncoding	Benign
10	121487218	TTTCTAAGGCCAGCTCCTGCACC	T	A121487224C	FGFR2	NM_000141.5(FGFR2):c.2057+114_2057+135del	noncoding	Benign
10	121488155	AC	A	C121488156A	FGFR2	NM_000141.5(FGFR2):c.1864-43del	noncoding	Benign
10	121498493	AC	A	C121498495A	FGFR2	NM_000141.5(FGFR2):c.1672+1del	noncoding	Pathogenic
10	121565176	C	CAA	G121565195A	FGFR2	NM_000141.5(FGFR2):c.376+260_376+261dup	noncoding	Benign
10	121565176	C	CA	G121565195A	FGFR2	NM_000141.5(FGFR2):c.376+261dup	noncoding	Benign
10	121580917	GC	G	C121580919G	FGFR2	NM_000141.5(FGFR2):c.109+12791del	noncoding	Benign
10	122507475	GTTGT	G	G122507486T	HTRA1	NM_002775.5(HTRA1):c.1005+74TTGT[2]	noncoding	Benign
10	122511764	A	AAT	A122511766T	HTRA1	NM_002775.5(HTRA1):c.1179-205_1179-204insTA	noncoding	Benign
10	123034198	C	CA	C123034201A	ACADSB	NM_001609.4(ACADSB):c.43-156dup	noncoding	Benign
10	123040356	AAAT	A	T123040368A	ACADSB	NM_001609.4(ACADSB):c.304-109AAT[3]	noncoding	Benign
10	123041039	AT	A	T123041045G	ACADSB	NM_001609.4(ACADSB):c.511-164del	noncoding	Benign
10	123050730	AAG	A	A123050735T	ACADSB	NM_001609.4(ACADSB):c.991-318AG[2]	noncoding	Benign
10	123051230	C	CT	C123051241T	ACADSB	NM_001609.4(ACADSB):c.1128+54dup	noncoding	Benign
10	123051230	C	CTT	C123051241T	ACADSB	NM_001609.4(ACADSB):c.1128+53_1128+54dup	noncoding	Benign
10	123053169	ATT	A	T123053180A	ACADSB	NM_001609.4(ACADSB):c.1228+20_1228+21del	noncoding	Benign/Likely_benign
10	124021236	CG	C	G124021248T	CHST15	NM_001270764.2(CHST15):c.1347+19del	coding	Benign
10	124398001	T	TGATCACCA	C124398011A	OAT	NM_000274.4(OAT):c.1253_1260dup:p.Lys421delinsTrpTer	coding	Pathogenic
10	124398079	G	GACAC	C124398086A	OAT	NM_000274.4(OAT):c.1179_1182dup:p.Leu395fs	coding	Pathogenic
10	124401738	G	GA	T124401740A	OAT	NM_000274.4(OAT):c.1001dup:p.Ala335fs	coding	Pathogenic
10	124401773	AT	A	T124401774G	OAT	NM_000274.4(OAT):c.966del:p.Tyr323fs	coding	Pathogenic
10	124401787	TC	T	C124401791T	OAT	NM_000274.4(OAT):c.952del:p.Glu318fs	coding	Pathogenic
10	124402048	G	GTTATTTATTTATTTATTTAT	T124402071A	OAT	NM_000274.4(OAT):c.901-229ATAA[10]	noncoding	Benign
10	124402930	G	GT	A124402932T	OAT	NM_000274.4(OAT):c.896dup:p.Tyr299Ter	coding	Pathogenic
10	124403046	TA	T	A124403049G	OAT	NM_000274.4(OAT):c.780del:p.Phe260fs	coding	Pathogenic
10	124403050	GA	G	A124403051G	OAT	NM_000274.4(OAT):c.776del:p.Leu259fs	coding	Pathogenic
10	124403064	G	GA	T124403073A	OAT	NM_000274.4(OAT):c.772-17dup	noncoding	Benign
10	124403776	CACAA	C	A124403780G	OAT	NM_000274.4(OAT):c.771+18_771+21del	noncoding	Benign
10	124403846	C	CGG	A124403849G	OAT	NM_000274.4(OAT):c.721_722dup:p.Asp242fs	coding	Pathogenic
10	124403866	CACCCTGAATTGGTTCTACCATGA	C	C124403869G	OAT	NM_000274.4(OAT):c.680_702del:p.Ala226_Phe227insTer	coding	Pathogenic
10	124405507	TG	T	G124405509T	OAT	NM_000274.4(OAT):c.576del:p.Ser193fs	coding	Pathogenic
10	124408545	CAA	C	A124408549C	OAT	NM_000274.4(OAT):c.515_516del:p.Phe172fs	coding	Pathogenic
10	124408734	G	GT	A124408739T	OAT	NM_000274.4(OAT):c.424+6dup	noncoding	Benign
10	124408859	CTT	C	T124408860C	OAT	NM_000274.4(OAT):c.304_305del:p.Lys102fs	coding	Pathogenic
10	124409016	A	AT	A124409017T	OAT	NM_000274.4(OAT):c.200-52_200-51insA	noncoding	Benign
10	124411815	CAAA	C	A124411832G	OAT	NM_000274.4(OAT):c.199+155_199+157del	noncoding	Benign
10	124411815	CAA	C	A124411833G	OAT	NM_000274.4(OAT):c.199+156_199+157del	noncoding	Benign
10	124411815	CA	C	A124411834G	OAT	NM_000274.4(OAT):c.199+157del	noncoding	Benign
10	124411973	CT	C	T124411977C	OAT	NM_000274.4(OAT):c.198del:p.Gly67fs	coding	Pathogenic
10	125788968	GCCAGC	G	C125788969G	UROS	NM_000375.3(UROS):c.693_697del:p.Leu232fs	coding	Pathogenic
10	125794827	TA	T	A125794841G	UROS	NM_000375.3(UROS):c.660+52del	noncoding	Benign
10	125794906	A	AT	A125794908T	UROS	NM_000375.3(UROS):c.633dup:p.Ser212fs	coding	Pathogenic
10	125797772	CA	C	A125797773G	UROS	NM_000375.3(UROS):c.475+292del	noncoding	Benign
10	125854209	G	GA	C125854219A	DHX32	NM_018180.3(DHX32):c.850-7dup	noncoding	Benign
10	128106847	CTG	C	G128106861A	MKI67	NM_002417.5(MKI67):c.4991_4992del:p.Thr1664fs	coding	Pathogenic
10	129840307	AC	A	C129840308G	EBF3	NM_001375380.1(EBF3):c.1696del:p.Val566fs	coding	Pathogenic
10	129841042	TC	T	C129841051G	EBF3	NM_001375380.1(EBF3):c.1373-11del	noncoding	Benign
10	129873522	ATTG	A	T129873527G	EBF3	NM_001375380.1(EBF3):c.705CAA[1]:p.Asn237del	coding	Pathogenic
10	129877781	A	AT	A129877783T	EBF3	NM_001375380.1(EBF3):c.622dup:p.Met208fs	coding	Pathogenic
10	129963364	TA	T	A129963365C	EBF3	NM_001375380.1(EBF3):c.291+2del	noncoding	Pathogenic
10	129963418	C	CT	G129963420T	EBF3	NM_001375380.1(EBF3):c.239dup:p.Pro81fs	coding	Pathogenic
10	132785411	GCTT	G	T132785419C	NKX6-2	NM_177400.3(NKX6-2):c.439AAG[2]:p.Lys149del	coding	Benign
10	132785829	GA	G	A132785831G	NKX6-2	NM_177400.3(NKX6-2):c.119del:p.Phe40fs	coding	Pathogenic
10	133292475	T	TC	G133292480C	TUBGCP2	NM_006659.4(TUBGCP2):c.1214+23dup	noncoding	Benign
10	133292610	CCT	C	C133292611G	TUBGCP2	NM_006659.4(TUBGCP2):c.1101_1102del:p.Asp369fs	coding	Pathogenic
10	133370724	C	CT	C133370731T	ECHS1	NM_004092.4(ECHS1):c.121dup:p.Arg41fs	coding	Pathogenic
10	133373160	AG	A	G133373166T	ECHS1	NM_004092.4(ECHS1):c.88+85del	noncoding	Benign
10	133557078	CTGTT	C	T133557083C	SYCE1	NM_001143764.3(SYCE1):c.449_452del:p.Lys150fs	coding	Pathogenic
11	207359	C	CGGCCACAGCCGCCTCAGACGT	G207384C	BET1L	NM_001098787.2(BET1L):c.-59_-39dup	noncoding	Benign
11	299237	T	TC	T299243C	IFITM5	NM_001025295.3(IFITM5):c.186+63dup	noncoding	Benign
11	299724	G	GC	G299731C	IFITM5	Single_allele	noncoding	Benign
11	530419	GAGTGTGGCATTCCCTGGACAGAAGGGCA	G	A530428G	LRRC56	Single_allele	noncoding	Benign
11	533311	GGGGTCCCAGA	G	A533319G	HRAS	NM_176795.5(HRAS):c.488_497del:p.Leu163fs	coding	Pathogenic
11	534287	GC	AA	G534287A	HRAS	NM_005343.4(HRAS):c.35_36delinsTT:p.Gly12Val	coding	Pathogenic
11	535289	CCCGCCG	C	C535309T	HRAS	NM_005343.4(HRAS):c.-54+103CGG[6]	noncoding	Benign
11	615085	TG	T	G615089T	IRF7	NM_001572.5(IRF7):c.183+11del	noncoding	Benign
11	640003	CGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCA	C	T640056C	DRD4	NM_000797.4(DRD4):c.807_902del:p.Arg271_Pro302del	coding	Pathogenic
11	640042	C	CCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCG	T640056C	DRD4	NM_000797.4(DRD4):c.806_807insCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCGGCCT:p.Pro270_Arg271insProAspProCysGlyProAspCysAlaProAlaAlaProGlyLeuPro	coding	Pathogenic
11	640099	A	ACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG	G640100C	DRD4	NM_000797.4(DRD4):c.850_851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG:p.Ser284fs	coding	Pathogenic
11	674626	CT	C	T674628C	DEAF1	NM_021008.4(DEAF1):c.1412del:p.Lys471fs	coding	Pathogenic
11	686867	G	GC	A686869C	DEAF1	NM_021008.4(DEAF1):c.794dup:p.Cys265fs	coding	Pathogenic
11	687996	G	GTTTT	G687999T	DEAF1	NM_021008.4(DEAF1):c.578_579insAAAA:p.Asn193fs	coding	Pathogenic
11	688351	GGGCCTTTCAGCCC	G	C688354T	DEAF1	NM_021008.4(DEAF1):c.484_496del:p.Gly162fs	coding	Pathogenic
11	694961	GGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC	G	G694971T	DEAF1	NM_021008.4(DEAF1):c.54_86del:p.Val19_Ala29del	coding	Benign
11	709155	TCAACTGGGACGTGGGGC	T	C709182T	EPS8L2	NM_022772.4(EPS8L2):c.-78-148_-78-132del	noncoding	Benign
11	709155	T	TCAACTGGGACGTGGGGC	T709199C	EPS8L2	NM_022772.4(EPS8L2):c.-78-174CAACTGGGACGTGGGGC[3]	noncoding	Benign
11	710469	T	TGGACA	C710470G	EPS8L2	NM_022772.4(EPS8L2):c.148_149insGGACA:p.Ser50fs	coding	Pathogenic
11	720881	G	GGC	A720884G	EPS8L2	NM_022772.4(EPS8L2):c.530_531dup:p.Lys178fs	coding	Pathogenic
11	723327	A	AC	A723330C	EPS8L2	NM_022772.4(EPS8L2):c.1430dup:p.Val478fs	coding	Pathogenic
11	725857	C	CG	T725863G	EPS8L2	NM_022772.4(EPS8L2):c.1680+15dup	noncoding	Benign
11	763299	TCCCCGCCCTCACCTG	T	C763315T	TALDO1	NM_006755.2(TALDO1):c.462-29_462-15del	noncoding	Benign
11	763314	GCCCCGCCCTCACCTGT	G	T763323C	TALDO1	NM_006755.2(TALDO1):c.462-21_462-6del	noncoding	Benign
11	792719	TC	T	C792720T	SLC25A22	NM_001191061.2(SLC25A22):c.420del:p.Arg141fs	coding	Pathogenic
11	798081	A	AC	T798089C	SLC25A22	NM_001191061.2(SLC25A22):c.-164+135dup	coding	Benign
11	800372	GGTCAC	G	C800375A	PIDD1	NM_145886.4(PIDD1):c.2116_2120del:p.Val706fs	coding	Pathogenic
11	800873	GCC	G	C800874T	PIDD1	NM_145886.4(PIDD1):c.1804_1805del:p.Gly602fs	coding	Pathogenic
11	821974	GT	G	T821977C	PNPLA2	NM_020376.4(PNPLA2):c.440del:p.Phe147fs	coding	Pathogenic
11	823727	TG	T	G823728C	PNPLA2	NM_020376.4(PNPLA2):c.792del:p.Leu264fs	coding	Pathogenic
11	823786	GCGGAGGATTACTCGCAGCTGCC	G	G823792A	PNPLA2	NM_020376.4(PNPLA2):c.856_877del:p.Asp286fs	coding	Pathogenic
11	823836	GC	G	C823839G	PNPLA2	NM_020376.4(PNPLA2):c.903del:p.Ala302fs	coding	Pathogenic
11	824075	GC	G	C824077A	PNPLA2	NM_020376.4(PNPLA2):c.999del:p.Ala333_Met334insTer	coding	Pathogenic
11	836172	G	GCCCCCA	T836195C	CD151	NM_004357.5(CD151):c.84+20CCCCCA[4]	noncoding	Benign
11	836539	TG	T	G836549T	CD151	NM_004357.5(CD151):c.276+107del	noncoding	Benign
11	836758	G	GC	A836767C	CD151	NM_004357.5(CD151):c.277-3dup	noncoding	Benign/Likely_benign
11	837661	GT	G	T837662G	CD151	NM_004357.5(CD151):c.615+44del	noncoding	Benign
11	837662	TG	T	G837669C	CD151	NM_004357.5(CD151):c.615+51del	noncoding	Benign
11	1445381	C	CGACGT	C1445388A	BRSK2	NM_001256627.2(BRSK2):c.902_906dup:p.Leu303fs	coding	Pathogenic
11	1754016	GC	G	C1754020G	CTSD	NM_001909.5(CTSD):c.949del:p.Ala317fs	coding	Pathogenic
11	1754057	GC	G	C1754060A	CTSD	NM_001909.5(CTSD):c.908del:p.Gly303fs	coding	Pathogenic
11	1754794	TC	T	C1754797A	CTSD	NM_001909.5(CTSD):c.827+111del	noncoding	Benign
11	1759599	TG	T	G1759606C	CTSD	NM_001909.5(CTSD):c.268del:p.Gln90fs	coding	Pathogenic/Likely_pathogenic
11	1759725	C	CAAGCCCTG	G1759729C	CTSD	NM_001909.5(CTSD):c.229-87_229-86insCTTCAGGG	noncoding	Benign
11	1763829	G	GGGCGAGCGGCAGAA	T1763847G	CTSD	NM_001909.5(CTSD):c.17_30dup:p.Leu11fs	coding	Pathogenic
11	1764064	GC	G	C1764065G	CTSD	Single_allele	noncoding	Benign
11	1841523	GGAA	G	A1841529T	TNNI2	NM_003282.4(TNNI2):c.524AGA[1]:p.Lys176del	coding	Pathogenic/Likely_pathogenic
11	1922820	C	CCT	G1922841C	TNNT3	NM_006757.4(TNNT3):c.-18-36CT[11]	noncoding	Benign
11	1928832	GCC	G	C1928837A	TNNT3	NM_006757.4(TNNT3):c.83-283_83-282del	noncoding	Benign
11	2133009	T	TG	C2133010G	IGF2	NM_000612.6(IGF2):c.520_521insC:p.Glu174fs	coding	Pathogenic
11	2161521	A	ACATTAGAC	G2161532T	INS	NM_000207.2(INS):c.-379_-372dup	noncoding	Benign
11	2165352	TCAGA	T	A2165356G	TH	NM_000360.4(TH):c.1210_1213del:p.Ser404fs	coding	Pathogenic
11	2165687	GACAGC	G	C2165689G	TH	NM_000360.4(TH):c.1176_1180del:p.Ser394fs	coding	Pathogenic/Likely_pathogenic
11	2165742	AC	A	C2165743T	TH	NM_000360.4(TH):c.1125del:p.Glu375fs	coding	Pathogenic
11	2165745	CC	AA	C2165745A	TH	NM_000360.4(TH):c.1122_1123delinsTT:p.Glu375Ter	coding	Pathogenic
11	2166939	GC	G	C2166941G	TH	NM_000360.4(TH):c.788del:p.Gly263fs	coding	Pathogenic
11	2166947	AG	A	G2166948C	TH	NM_000360.4(TH):c.780del:p.Phe261fs	coding	Pathogenic
11	2167012	AGC	A	C2167014T	TH	NM_000360.4(TH):c.714_715del:p.Leu239fs	coding	Pathogenic
11	2168074	A	AG	C2168079G	TH	NM_000360.4(TH):c.576+16dup	noncoding	Benign
11	2168270	C	CG	C2168277G	TH	NM_000360.4(TH):c.488-97dup	noncoding	Benign
11	2168590	A	ACTCCAGGTGGGGGC	C2168606T	TH	NM_000360.4(TH):c.374_387dup:p.Tyr130fs	coding	Pathogenic
11	2168699	GAGAA	G	A2168703G	TH	NM_000360.4(TH):c.313-38_313-35del	noncoding	Benign/Likely_benign
11	2169759	AG	A	G2169764T	TH	NM_000360.4(TH):c.202del:p.Leu68fs	coding	Pathogenic
11	2397119	G	GC	T2397123C	CD81	NM_004356.4(CD81):c.*256dup	noncoding	Benign
11	2444984	GC	G	C2444990G	KCNQ1	Single_allele	noncoding	Benign
11	2445203	C	CT	C2445206T	KCNQ1	NM_000218.3(KCNQ1):c.107dup:p.Ser37fs	coding	Pathogenic
11	2445251	CGCGCCCATCGCGCCCG	C	A2445258C	KCNQ1	NM_000218.3(KCNQ1):c.160_175del:p.Ile54fs	coding	Pathogenic
11	2445314	G	GC	A2445320C	KCNQ1	NM_000218.3(KCNQ1):c.221dup:p.Val75fs	coding	Pathogenic
11	2445457	GGAAATGCTTC	G	A2445459T	KCNQ1	NM_000218.3(KCNQ1):c.361_370del:p.Lys121fs	coding	Pathogenic
11	2445482	CG	C	G2445483T	KCNQ1	NM_000218.3(KCNQ1):c.385del:p.Val129fs	coding	Pathogenic
11	2445700	CGT	C	T2445702G	KCNQ1	NM_000218.3(KCNQ1):c.386+218_386+219del	noncoding	Benign
11	2528099	TGG	T	G2528104C	KCNQ1	NM_000218.3(KCNQ1):c.477+86_477+87del	noncoding	Benign
11	2570649	TTCG	T	T2570650G	KCNQ1	NM_000218.3(KCNQ1):c.500_502del:p.Phe167_Gly168delinsTrp	coding	Pathogenic
11	2572072	G	GGA	G2572076A	KCNQ1	NM_000218.3(KCNQ1):c.745_746dup:p.Leu250fs	coding	Pathogenic
11	2572096	TCATC	T	T2572099C	KCNQ1	NM_000218.3(KCNQ1):c.770_773del:p.Ile257fs	coding	Pathogenic
11	2572099	T	TCCACC	G2572105C	KCNQ1	NM_000218.3(KCNQ1):c.771_775dup:p.Arg259fs	coding	Pathogenic
11	2572899	C	CT	G2572903T	KCNQ1	NM_000218.3(KCNQ1):c.837dup:p.Val280fs	coding	Pathogenic
11	2572975	T	TGGTG	G2572982T	KCNQ1	NM_000218.3(KCNQ1):c.913_916dup:p.Gly306fs	coding	Pathogenic
11	2572978	TG	T	G2572984T	KCNQ1	NM_000218.3(KCNQ1):c.919del:p.Val307fs	coding	Pathogenic
11	2583446	C	CACCATCGG	C2583455A	KCNQ1	NM_000218.3(KCNQ1):c.934_941dup:p.Tyr315fs	coding	Pathogenic
11	2585210	A	AGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCT	C2585297G	KCNQ1	NM_000218.3(KCNQ1):c.1033-1_1117dup	noncoding	Pathogenic
11	2587588	G	GC	T2587590C	KCNQ1	NM_000218.3(KCNQ1):c.1148dup:p.Ala384fs	coding	Pathogenic
11	2587622	TC	T	C2587623T	KCNQ1	NM_000218.3(KCNQ1):c.1182del:p.Tyr395fs	coding	Pathogenic
11	2587647	CCACACTCTGCTGT	C	A2587651C	KCNQ1	NM_000218.3(KCNQ1):c.1210_1222del:p.Thr404fs	coding	Pathogenic
11	2587679	AG	A	G2587680A	KCNQ1	NM_000218.3(KCNQ1):c.1239del:p.Lys414fs	coding	Pathogenic
11	2587690	G	GT	G2587692T	KCNQ1	NM_000218.3(KCNQ1):c.1250dup:p.Val418fs	coding	Pathogenic/Likely_pathogenic
11	2588702	G	GT	A2588711T	KCNQ1	NM_000218.3(KCNQ1):c.1252-3dup	noncoding	Benign/Likely_benign
11	2588702	GT	G	T2588710A	KCNQ1	NM_000218.3(KCNQ1):c.1252-3del	noncoding	Benign/Likely_benign
11	2588718	G	GA	G2588727A	KCNQ1	NM_000218.3(KCNQ1):c.1265dup:p.Phe423fs	coding	Pathogenic/Likely_pathogenic
11	2588779	G	GTCCCCCATATCACGTGCGA	C2588799T	KCNQ1	NM_000218.3(KCNQ1):c.1319_1337dup:p.Glu449fs	coding	Pathogenic
11	2588804	C	CA	G2588806A	KCNQ1	NM_000218.3(KCNQ1):c.1344dup:p.Glu449fs	coding	Pathogenic
11	2588814	GC	G	C2588815G	KCNQ1	NM_000218.3(KCNQ1):c.1354del:p.Arg452fs	coding	Pathogenic
11	2660386	TC	T	C2660388T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1394-1573del	coding	Benign
11	2673979	G	GGGGGT	G2673994T	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+11899GGGGT[3]	coding	Benign
11	2675920	AAC	A	C2675922G	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+13841_1514+13842del	coding	Benign
11	2699443	GCACTGAGGAGCCGCCGGGAGAGTGCCGCGCTGAGGAGCCCCCGGGGAGAGTGCCGCGCTGAGGAGCCCCCAGGAGAGTGCCGCGCTGAGGAGGCCCAGGGAGGACCGCGCGGAGGAGAACCATGCTGAGGAGCCCCCGGGGAGAACAGAACCGCGGCGAGAGGCCCCCGGAGAGAACCGCGCCGAAGAACCCCCGGGGACAACCGCGCCGAAGAACCCCCGGGGAGAACCGCGCCGAAAAGCCCCGGGTGCCCCGAGGAGAACGGCGCCGAGGAGTCCCCGGGGAGAACTGCGCCGAGGAGCCCCCAGAAGAGCGCCGCGCTGAGGAGCCCCGAGGAGAACCGCGCCGAGGGGCGCGCCGGGGAGAACCACGATGACTGACGCACCGAGGAGGACCGCGCTGAGGGGCGCACCGGGAGAATCGTGCTGAGGAGCCCCGGGGAGGACCACGCTGAGAGGCACCCCGGCAGAATCGCGCTGAGGGGCGCCCTGGCAGGATCTTGCTGAGGAGCTCCCTGGAGGTCCGTGCTGAGGCGACGCGGCGACCGTTCTGCCTGGAGACTGCGGCAGCGCTCCGACTGCCCCCGCCGCTGCCGACGTGGCGACCGCCCCCCACCTGCTGATTGGGCGGCAGCAGGGGAAGGCTTGCGGCGGGCTGCTGCACGGATTGGCTGGGTGCGGAAAGTGATGTGCCGTGTCCTGTCATTGGCCGAAAGAGTCTCGTTTTGATGCCACCCGGGCTCAGATTGGCCCAGCGGGTCCAGCGCCGCATGAGGCACTGGCTGGGTGTGAGGTGGCGCGAGCCGCCGCCCTCCCTGCCCCCACCCGTCGTCCCTGAGCACCACCGGGGGCCGGGGCCAGCGCCAGCCTCAGCGTTGGCATCGCCGGGGTGAGCTGGAGACACGGGCCAGTTCTCTGCGTGATGTGTTCACCACCCCGGGGTGACCGCGTGAGGACAGCGGCCGCACCCCGACACTGCTGTGGGCCCTCGGTGTGGAGGCCTGTGGGCGTCCAGGCCACGCCCGAGACCAGCCCCTCCGCCGGCGCCGCTGCAGCGACCCTCGAACCCGGGCAAGGTCTCCACCGCCGTGGCACCGGGTGCGGGAGGCGTTTTCCCCCCTCCCAGCGGGTCCATGCAGGGGATCGGGATGTTCTGAAGCCCCCACTGCTGTGCCTGGAACACCCGTGTCTGCCGCTCACCCCTGAGGACTTGGGACCTCAGGGGGTGAGTGGCAGGGGTGGCCGGGACATGCCAGGCCACCCACCTGGCAAAGGGCAGCGCCGAGGGCGCCCCGCGCCTGCCAGCGCCCGGCCGGGCCCGCCCTGCCCACCTCCCATCCCCCATCCGGGCGTGACACTTGACCGCGTCTGCCGGCCCCTCC	G	A2699445C	KCNQ1;KCNQ1OT1;LOC106783508	NM_000218.3(KCNQ1):c.1514+37364_1514+38744del	coding	Pathogenic
11	2699707	GGCGCCGAGGAGTCCCCGGGGAGAACT	G	T2699719C	KCNQ1;KCNQ1OT1	NM_000218.3(KCNQ1):c.1514+37638_1514+37663del	coding	Benign
11	2777341	T	TCCTGGGGCTGGG	T2777349C	KCNQ1	NM_000218.3(KCNQ1):c.1732+316_1732+317insCTGGGCCTGGGG	noncoding	Benign
11	2778034	CAA	C	A2778035G	KCNQ1	NM_000218.3(KCNQ1):c.1792_1793del:p.Lys598fs	coding	Pathogenic/Likely_pathogenic
11	2847842	A	AC	G2847848C	KCNQ1	NM_000218.3(KCNQ1):c.1875dup:p.Gly626fs	coding	Pathogenic/Likely_pathogenic
11	2848375	AG	A	G2848380C	KCNQ1	NM_000218.3(KCNQ1):c.*377del	noncoding	Benign/Likely_benign
11	2884087	CGCC	TCAGGCGCAG	C2884087T	CDKN1C	NM_001122630.2(CDKN1C):c.832_835delinsCTGCGCCTGA:p.Gly278_Asp279delinsLeuArgLeuAsn	coding	Pathogenic
11	2884111	ATC	A	C2884115T	CDKN1C	NM_001122630.2(CDKN1C):c.809_810del:p.Arg270fs	coding	Pathogenic
11	2884129	A	CT	A2884129C	CDKN1C	NM_001122630.2(CDKN1C):c.793delinsAG:p.Phe265fs	coding	Pathogenic
11	2884129	AGAAA	CAGCTC	A2884129C	CDKN1C	NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG:p.Asp263fs	coding	Pathogenic
11	2884650	CG	C	G2884654C	CDKN1C	NM_001122630.2(CDKN1C):c.787+19del	noncoding	Benign
11	2884699	ATCGCCGCGCCGTT	A	T2884700G	CDKN1C	NM_001122630.2(CDKN1C):c.745_757del:p.Asn249fs	coding	Pathogenic
11	2884707	GCC	G	C2884708G	CDKN1C	NM_001122630.2(CDKN1C):c.748_749del:p.Gly250fs	coding	Pathogenic
11	2884857	G	GGCCGGT	G2884860C	CDKN1C	NM_001122630.2(CDKN1C):c.599_600insACCGGC:p.186_187AP[11]	coding	Benign/Likely_benign
11	2884878	CG	C	G2884882C	CDKN1C	NM_001122630.2(CDKN1C):c.578del:p.Pro193fs	coding	Pathogenic
11	2885035	G	GT	G2885036T	CDKN1C	NM_001122630.2(CDKN1C):c.421_422insA:p.Pro141fs	coding	Pathogenic
11	2885041	GGGGGCGGGGTGGACGCC	G	G2885047C	CDKN1C	NM_001122630.2(CDKN1C):c.399_415del:p.Ala134fs	coding	Pathogenic
11	2885046	CG	C	G2885050T	CDKN1C	NM_001122630.2(CDKN1C):c.410del:p.Pro137fs	coding	Pathogenic
11	2885054	ACG	A	G2885056C	CDKN1C	NM_001122630.2(CDKN1C):c.401_402del:p.Ala134fs	coding	Pathogenic
11	2885056	G	GT	C2885057T	CDKN1C	NM_001122630.2(CDKN1C):c.400_401insA:p.Ala134fs	coding	Pathogenic
11	2885066	G	GGACC	G2885072A	CDKN1C	NM_001122630.2(CDKN1C):c.387_390dup:p.Pro131fs	coding	Pathogenic
11	2885251	GT	G	T2885252C	CDKN1C	NM_001122630.2(CDKN1C):c.205del:p.Thr69fs	coding	Pathogenic
11	2885256	C	CTGCAGGCG	C2885266G	CDKN1C	NM_001122630.2(CDKN1C):c.193_200dup:p.Gln67fs	coding	Pathogenic
11	2885282	G	GC	A2885284C	CDKN1C	NM_001122630.2(CDKN1C):c.174dup:p.Pro59fs	coding	Pathogenic
11	2885324	CG	C	G2885326C	CDKN1C	NM_001122630.2(CDKN1C):c.132del:p.Glu45fs	coding	Pathogenic
11	2885361	G	GT	C2885362T	CDKN1C	NM_001122630.2(CDKN1C):c.95_96insA:p.Ser32fs	coding	Pathogenic
11	2885395	CTG	C	T2885396C	CDKN1C	NM_001122630.2(CDKN1C):c.60_61del:p.Ser21fs	coding	Pathogenic
11	3808066	CCGG	C	C3808067G	PGAP2	NM_001145438.2(PGAP2):c.140-227_140-225del	coding	Benign
11	3825723	T	TA	C3825735A	PGAP2	NM_014489.4(PGAP2):c.*276dup	noncoding	Benign
11	3855605	G	GCC	G3855607C	STIM1	NM_001382566.1(STIM1):c.-84+190_-84+191insCC	noncoding	Benign
11	3855608	C	CG	A3855611G	STIM1	NM_001382566.1(STIM1):c.-84+194dup	noncoding	Benign
11	3855613	AC	A	C3855614G	STIM1	NM_001382566.1(STIM1):c.-84+198del	noncoding	Benign
11	3855883	CTCTCT	C	T3855901C	STIM1	NM_001382567.1(STIM1):c.-385TCTTC[3]	noncoding	Benign
11	3967574	CCT	C	C3967575G	STIM1	NM_001382567.1(STIM1):c.163_164del:p.Leu55fs	coding	Pathogenic
11	4074576	AGATCAACCTTGCTAAGCAG	A	T4074579A	STIM1	NM_001382567.1(STIM1):c.869_887del:p.Ile290fs	coding	Pathogenic
11	4082862	TG	T	G4082867C	STIM1	NM_001382567.1(STIM1):c.1138-15del	noncoding	Benign
11	4082931	TG	T	G4082933C	STIM1	NM_001382567.1(STIM1):c.1189del:p.Ala397fs	coding	Pathogenic
11	5224302	GATTTCTTTAAAAATTTTTATGGTTTTAGGTCTTAGTTTAATTCTTTAACCCATTCAAATTTATTTTTGTTTATGGTGTAAGACAAGGGTCTGATTTCATTTCATTTTGAGGGTTTCACCCTCTCATATAATAAAATTCTTCTATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGGCCAGGCGAGGAGAAACCATCTCGCCGTAAAACATGGAAGGAACACTTCAGGGGAAAGGTGGTATCTCTAAGCAAGAGAACTGAGTGGAGTCAAGGCTGAGAGATGCAGGATAAGCAAATGGGTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACC	G	A5224303T	HBB	NG_000007.3:g.69826_73313del	noncoding	Pathogenic
11	5225481	GT	G	T5225487A	HBB	NM_000518.5(HBB):c.*116del	noncoding	Pathogenic
11	5225487	T	TC	A5225488C	HBB	NM_000518.5(HBB):c.*110_*111insG	noncoding	Pathogenic
11	5225597	CTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG	C	T5225598C	HBB	NM_000518.5(HBB):c.316_444del:p.Leu106_Ter148del	noncoding	Pathogenic
11	5225637	CACCACTTTCTG	C	C5225639T	HBB	NM_000518.5(HBB):c.394_404del:p.Gln132fs	coding	Pathogenic
11	5225645	TCTGATAGGCAGCCTGCA	T	A5225649G	HBB	NM_000518.5(HBB):c.380_396del:p.Val127fs	coding	Pathogenic
11	5225701	AC	A	C5225702A	HBB	NM_000518.5(HBB):c.340del:p.Val114fs	coding	Pathogenic
11	5226363	G	GA	G5226373A	HBB	NM_000518.5(HBB):c.315+205dup	noncoding	Benign
11	5226569	AGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTGAAATAAAGTGTTCTGCGGAAGTTTGAATATGTCTTTTGCAAATATCCTGGGTCAAAGAAAATGCACAGACTTTATGAAATTATAATATAGGTTATATTTATAGTATTCTGAAAGACCAAAATTGTCAAAGCAAGAGCTTTGAAATCCTGATTGGCAGAAATTGTCACCTTCTTAAAGACTTACCCTACAACTTCTTATGCTCAGAAATAGTTTTCCTTTTTCTATTTTGTTTTCTTTTTTAAATGATGAACTATGGATCCTTCTCTTGTGTTGGCAACTGCTGCAGATACCATCATCCTGGCTTCAAGGCAGGGGTTGCTTTTCCAATGGTAGTTACTTAGTGTGACTAGAGTGTAACGCAGACTTTTCTTTCTATTACCCATAATACCCTGCAGGGACAAGGCTGCAAGCTATACTAAGACCATCAAAAGCCCAGGCATACCAGGCAAATAAGTTTCAAGAAGCAATAAATAGTGCAAATTTGGTTATGGTCAGAGCCTCAGTTTCAAATCTAAATCAGCATTCAAAGTTCCTGAAAAACTATTCAAGCTTACTGACATCTTCACTATTGTGAGCTTGCTTCTACTCTGTGAATGGATGCCACAGCAGGTGCAGGTCTATTCTACTTTTATTCCAGCCCCACTGACCACAACACACACACACACACACACACACACACACACACAAGTCCTCAAAAAAGAGACAGCGAGAGAGACAGAGGTCCATTTCCTTTACTCCAGTCTATTAATCTTTCTTAAGTCCTAATGTTTTATATCAGAATGGCCCTAGTCTGGGTATACTTAGAGGATGAATATTAACTTCCTCCATGAAAATCATGACACTCATCTATGGGAGTGTGGTTTTATCATTTGTTTCAAAAGCAGCACTTGACTAGAGTATTTTTATACATGCTCTACTGTTTAGTCTAAAATTCCCCAAGTGAGACATTTTAGCAATCTACTGTATATGTTCCTAGGTCAAGCACAGTCTAGCTACTTGCTACAGACTTCTCTCGCAGATACACAATCTCTCAGTAAACACAACTCAGCAGCTCTCAGAATTAATTAATTAAAATGAAATAAAAATGCTCCAAGAAAACCAGAACCCATAGAAACAAACCGCACACACACAAAATAGTTTGGAAATAGGATAGTTTAGTTCACTTTAAAAAGTTGTATTTCTTACCAAAAAGCAATAAAGTCAACATAGACAGAACTTTGCTAAAGTATATGCATAATTATTACAGAAAAATTTATATTTCAGTCTGCACCTTGTTCATTAATATTTCCTCCACTGGGCTCAGATTTTCATTCAGAATTAGCTTTTTTTTAACCTCATTAAGTGGGCCATGGTGTCAATTTATGGAGAGCAGAGGTACAGTCTTCAGATAAATTTGAGATTGCATCTCTTTAGAGGTAGAATCTTGGCTTCAGTCTGAACACCCTTTACAAACATGTAGGCATTAATTCAGAGGACTGCTCTGAAGCTCAAGAGATGGATGATTTAGGAGACTATTAGGCTTAATTCTCCTGACATTAAATTATTTTATTGAAAAATTTTCATGAACTCAAATTCACATTATTACGTCCTCTCTTCCCTTCCTCTCTCCCTCTCTTTCACACACACACACACCCTTTCATTCAGACATACTGAACATAGTTTATAAAGCAACGCCATAGTGAGAAAAGAAAAACAACCATTTGATAAATTATCAAATAAAATTAAAGCCAAATCTTGAGGAATTAATTCCATTCCTATACTTTGTTTTAACTTTCATTTTAAATTTGGGGGTACATGTACAAGTTATATAGGTAAATTGCATATCACTGGGTCTTGATGTACAGATTATTTCATCACTCAGTGATGAACTTAATACCCAATAGGTTCTTTTTCATCGTCTCCCTCTTCCCACCCTCAACCCTCAAGTAGGCCTGGGTGTCTGTTGATCTATTTTTTGTGTCCATGTGTATCATCATTTAGCTCCCACACTCCTAGACTCTTACAAAAGCTCTACTCTAACAAATAATTTTAATATAACAACAAGGTGCCAAGTCTTTTTTCATCTCTTGACCTCCTCATCTTCAATATGAAGATAGCAATGCCTAGCATATAGTAATTGTGTGTGCTCGGCACATGTCCCATCCAGGTGATGTTCTCATGAATTCTCTGGTATTTGGATTTTTAGGGCCAACATCTTGCCTAGACTCACTGACTACTTCTAATGGTGTAGGAATAGAAGGTATAGTAAGCTATATTTGCTCTTTTTTTTTGACTTTTGGAGAAAGGAATGTAGTTTGTTTTCCCTATCAAGATCATAAGGTCTACAATCTCTCTTACTGTCTTTCGAATACCACACAAGTATCTCCTTTTAATATCTTACTCTTATGAGAACTTCCCTATGCTCAGGAATGTGAAAGTGATCTTCCCCAAAATGCCCTGAGTAGCTCTGCTTCTGATATGTAAACCAGTGGTTCCTAAATATCTTATTCAGATATAAAGAGTTCTCAGTGCCTACTATGTATAATGACTTAAGGAAAACACATGGATATAAAAGAGCTTCTGCTGCCAGTCAATTCAAAATGTTGTGATCAAAACAGTTAACTATAACACATTGTCAGTATATTCTGGCAGTACAGACAGAGTTACTGTGAAAGCACTTTCAAACACAAGGAAACAACAGATTCTGTTTAGGTATTCAAGTAAGTTTAAAATTAATCAACATGCATATAATACAGATTTTTAAAAATGTATACAACTGAGAAAGTTCTAAAAATCCTTCTAATTTTACCTATGGCAAAAATGGTGCTCAAGGAAAAAAATATTACTCCTATGATCAGAAAGGAAATAACTGTTCGGTTGTTTACTGCATGCTTCCTCTTTGTATGTTGTAGCATTAACAACAAAGAAACACTGTGCGATGGTATTATTAATATTGTCCTCTAATTCCAGAAGTTCTAAAGCAAGGAATAATCATTCCTTCATTTACTCATTTACTCATTCGTTCATTCATTCACTGTTTTCTTGAATAAATATTTTCTTTCTGCCCATTGATGAATTTAATATGAGGCACAGTAGGCATGTAAGAAGGTAGAGAATAGGCAGAATTGCTTATAAAGCACGGAGTGTGTGTGTGTGCATGAAATAAATAAGAAAAATATAAAAATATAAAAAATGGTGTGGGGGAGGGTTTGGAAAGATTTTTTGGGTAGTATAGAGAAGTTTATTGTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCTAGAACCTCTGCAGTGCCAGTATTATCTTTGTATCAAGAGTTCTTGATAATTTCTGCTCTTTGGAGGTAGAAGTGTCACCCATTAATGCCTTGTACGGTTCCCTTGCTTTTCTCTTTTCCCATGTACTCTTTGTAAAATAAACAAGTGCTCCCTATCTGTAGAGCCTCAGGAACCTTCTTACACACCTGGACAAAAAAATGAAATAAGTGAAATTAATCAGGAAGTTGAGCTGAACATTCTTTATTAGGCAGAAGCCATACCCTTGAAGTAGGCATTGTGTTCCCAAGTTCAGAAAATAGAATCTAGGGAAATAGGGTCTTCTTATGGTTATCAGGAAACAGTCCAGGATCTCAATGGTACTTGTGAGCCAGGGCATTAGCCACACCAGCCACCACCTTCTGATAGGCAGCCTGCATTTGTGGGGTGAATTCCTTGCCAAAGTTGCGGGCCAGCACACACACCAGCACATTGCCCAAGAGCTGCGGAGAAGAGGTAGGCAGATACATGCATATGGTTAACAGAGAAATAAAGACTGGCTTCTGAGAAACTGAGCCAACACCCATTTTTTTCTGCCCAAATCTTAGACAAAACTGATCCCCAGGTTATTCCCATCAGCATAAATAAGTACATATATGAATGCATACATATAACATATATCTATACACACACATCCTCTATGTACTTAACTAGCATGTAGTCTATATATGTACATATATGCTATATATGCTGTATAATACTATATACAAATTAATTCCAAATTAGTTTTAATTTTGTATGTGTATATAGCATATACAAATTAATTACTATAAACAGATTAATAGATACAAATTAATTGATTAATCAGTGTGATGATGGGCTGTCTCCTAGCAACGACTTCTGCCCCACCTCCAGTGTAACTGCCTAGTCTTTCATAATCAAATATTCACTTTCCTTTCCATTCCATTTACTACAGAATTTATAAAATTCCAATTATTCCTTATTGTAAAATGATTTATAGCCTCTAAAACAGTATTCTATGCCTCTCATCTTTGAGTTGGAGCCTCTCCCATACCCATGTGGAGAGACAAAAGGATTATTCTAAGTGCAGAATTAGCAGGTGAGAGCTGGTATGCATAATTTGAGTTGTTGTTAGAGAAGGAAAAATGAAGGGAGGGGGTTGGGAGAGAAAGACAGGATATTAAATAATTTAAAATAGCAAGATTGTGAGGAAGGAAAAAATGCAGAATATTTAAATAAAAAATTAACAAAATTTTAGAAGCATTAAATGATAAAATATAGTAAAATGACAAAAATGTGGGAGAAGAGCAGGTAGGTAAAAGAACCAAAATGTAAGATTAGAAAGTAAAAAGAGAAAAGTGAAGCATCTCCTGG	A	G5226570A	HBB;HBD;LOC106099062;LOC106099063;LOC107133510;LOC110006319	NG_000007.3:g.63632_71046del	noncoding	Pathogenic
11	5226609	CA	C	A5226610C	HBB	NM_000518.5(HBB):c.282del:p.Cys94fs	coding	Pathogenic
11	5226633	CAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTGAAATAAAGTGTTCTGCGGAAGTTTGAATATGTCTTTTGCAAATATCCTGGGTCAAAGAAAATGCACAGACTTTATGAAATTATAATATAGGTTATATTTATAGTATTCTGAAAGACCAAAATTGTCAAAGCAAGAGCTTTGAAATCCTGATTGGCAGAAATTGTCACCTTCTTAAAGACTTACCCTACAACTTCTTATGCTCAGAAATAGTTTTCCTTTTTCTATTTTGTTTTCTTTTTTAAATGATGAACTATGGATCCTTCTCTTGTGTTGGCAACTGCTGCAGATACCATCATCCTGGCTTCAAGGCAGGGGTTGCTTTTCCAATGGTAGTTACTTAGTGTGACTAGAGTGTAACGCAGACTTTTCTTTCTATTACCCATAATACCCTGCAGGGACAAGGCTGCAAGCTATACTAAGACCATCAAAAGCCCAGGCATACCAGGCAAATAAGTTTCAAGAAGCAATAAATAGTGCAAATTTGGTTATGGTCAGAGCCTCAGTTTCAAATCTAAATCAGCATTCAAAGTTCCTGAAAAACTATTCAAGCTTACTGACATCTTCACTATTGTGAGCTTGCTTCTACTCTGTGAATGGATGCCACAGCAGGTGCAGGTCTATTCTACTTTTATTCCAGCCCCACTGACCACAACACACACACACACACACACACACACACACACACAAGTCCTCAAAAAAGAGACAGCGAGAGAGACAGAGGTCCATTTCCTTTACTCCAGTCTATTAATCTTTCTTAAGTCCTAATGTTTTATATCAGAATGGCCCTAGTCTGGGTATACTTAGAGGATGAATATTAACTTCCTCCATGAAAATCATGACACTCATCTATGGGAGTGTGGTTTTATCATTTGTTTCAAAAGCAGCACTTGACTAGAGTATTTTTATACATGCTCTACTGTTTAGTCTAAAATTCCCCAAGTGAGACATTTTAGCAATCTACTGTATATGTTCCTAGGTCAAGCACAGTCTAGCTACTTGCTACAGACTTCTCTCGCAGATACACAATCTCTCAGTAAACACAACTCAGCAGCTCTCAGAATTAATTAATTAAAATGAAATAAAAATGCTCCAAGAAAACCAGAACCCATAGAAACAAACCGCACACACACAAAATAGTTTGGAAATAGGATAGTTTAGTTCACTTTAAAAAGTTGTATTTCTTACCAAAAAGCAATAAAGTCAACATAGACAGAACTTTGCTAAAGTATATGCATAATTATTACAGAAAAATTTATATTTCAGTCTGCACCTTGTTCATTAATATTTCCTCCACTGGGCTCAGATTTTCATTCAGAATTAGCTTTTTTTTAACCTCATTAAGTGGGCCATGGTGTCAATTTATGGAGAGCAGAGGTACAGTCTTCAGATAAATTTGAGATTGCATCTCTTTAGAGGTAGAATCTTGGCTTCAGTCTGAACACCCTTTACAAACATGTAGGCATTAATTCAGAGGACTGCTCTGAAGCTCAAGAGATGGATGATTTAGGAGACTATTAGGCTTAATTCTCCTGACATTAAATTATTTTATTGAAAAATTTTCATGAACTCAAATTCACATTATTACGTCCTCTCTTCCCTTCCTCTCTCCCTCTCTTTCACACACACACACACCCTTTCATTCAGACATACTGAACATAGTTTATAAAGCAACGCCATAGTGAGAAAAGAAAAACAACCATTTGATAAATTATCAAATAAAATTAAAGCCAAATCTTGAGGAATTAATTCCATTCCTATACTTTGTTTTAACTTTCATTTTAAATTTGGGGGTACATGTACAAGTTATATAGGTAAATTGCATATCACTGGGTCTTGATGTACAGATTATTTCATCACTCAGTGATGAACTTAATACCCAATAGGTTCTTTTTCATCGTCTCCCTCTTCCCACCCTCAACCCTCAAGTAGGCCTGGGTGTCTGTTGATCTATTTTTTGTGTCCATGTGTATCATCATTTAGCTCCCACACTCCTAGACTCTTACAAAAGCTCTACTCTAACAAATAATTTTAATATAACAACAAGGTGCCAAGTCTTTTTTCATCTCTTGACCTCCTCATCTTCAATATGAAGATAGCAATGCCTAGCATATAGTAATTGTGTGTGCTCGGCACATGTCCCATCCAGGTGATGTTCTCATGAATTCTCTGGTATTTGGATTTTTAGGGCCAACATCTTGCCTAGACTCACTGACTACTTCTAATGGTGTAGGAATAGAAGGTATAGTAAGCTATATTTGCTCTTTTTTTTTGACTTTTGGAGAAAGGAATGTAGTTTGTTTTCCCTATCAAGATCATAAGGTCTACAATCTCTCTTACTGTCTTTCGAATACCACACAAGTATCTCCTTTTAATATCTTACTCTTATGAGAACTTCCCTATGCTCAGGAATGTGAAAGTGATCTTCCCCAAAATGCCCTGAGTAGCTCTGCTTCTGATATGTAAACCAGTGGTTCCTAAATATCTTATTCAGATATAAAGAGTTCTCAGTGCCTACTATGTATAATGACTTAAGGAAAACACATGGATATAAAAGAGCTTCTGCTGCCAGTCAATTCAAAATGTTGTGATCAAAACAGTTAACTATAACACATTGTCAGTATATTCTGGCAGTACAGACAGAGTTACTGTGAAAGCACTTTCAAACACAAGGAAACAACAGATTCTGTTTAGGTATTCAAGTAAGTTTAAAATTAATCAACATGCATATAATACAGATTTTTAAAAATGTATACAACTGAGAAAGTTCTAAAAATCCTTCTAATTTTACCTATGGCAAAAATGGTGCTCAAGGAAAAAAATATTACTCCTATGATCAGAAAGGAAATAACTGTTCGGTTGTTTACTGCATGCTTCCTCTTTGTATGTTGTAGCATTAACAACAAAGAAACACTGTGCGATGGTATTATTAATATTGTCCTCTAATTCCAGAAGTTCTAAAGCAAGGAATAATCATTCCTTCATTTACTCATTTACTCATTCGTTCATTCATTCACTGTTTTCTTGAATAAATATTTTCTTTCTGCCCATTGATGAATTTAATATGAGGCACAGTAGGCATGTAAGAAGGTAGAGAATAGGCAGAATTGCTTATAAAGCACGGAGTGTGTGTGTGTGCATGAAATAAATAAGAAAAATATAAAAATATAAAAAATGGTGTGGGGGAGGGTTTGGAAAGATTTTTTGGGTAGTATAGAGAAGTTTATTGTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCTAGAACCTCTGCAGTGCCAGTATTATCTTTGTATCAAGAGTTCTTGATAATTTCTGCTCTTTGGAGGTAGAAGTGTCACCCATTAATGCCTTGTACGGTTCCCTTGCTTTTCTCTTTTCCCATGTACTCTTTGTAAAATAAACAAGTGCTCCCTATCTGTAGAGCCTCAGGAACCTTCTTACACACCTGGACAAAAAAATGAAATAAGTGAAATTAATCAGGAAGTTGAGCTGAACATTCTTTATTAGGCAGAAGCCATACCCTTGAAGTAGGCATTGTGTTCCCAAGTTCAGAAAATAGAATCTAGGGAAATAGGGTCTTCTTATGGTTATCAGGAAACAGTCCAGGATCTCAATGGTACTTGTGAGCCAGGGCATTAGCCACACCAGCCACCACCTTCTGATAGGCAGCCTGCATTTGTGGGGTGAATTCCTTGCCAAAGTTGCGGGCCAGCACACACACCAGCACATTGCCCAAGAGCTGCGGAGAAGAGGTAGGCAGATACATGCATATGGTTAACAGAGAAATAAAGACTGGCTTCTGAGAAACTGAGCCAACACCCATTTTTTTCTGCCCAAATCTTAGACAAAACTGATCCCCAGGTTATTCCCATCAGCATAAATAAGTACATATATGAATGCATACATATAACATATATCTATACACACACATCCTCTATGTACTTAACTAGCATGTAGTCTATATATGTACATATATGCTATATATGCTGTATAATACTATATACAAATTAATTCCAAATTAGTTTTAATTTTGTATGTGTATATAGCATATACAAATTAATTACTATAAACAGATTAATAGATACAAATTAATTGATTAATCAGTGTGATGATGGGCTGTCTCCTAGCAACGACTTCTGCCCCACCTCCAGTGTAACTGCCTAGTCTTTCATAATCAAATATTCACTTTCCTTTCCATTCCATTTACTACAGAATTTATAAAATTCCAATTATTCCTTATTGTAAAATGATTTATAGCCTCTAAAACAGTATTCTATGCCTCTCATCTTTGAGTTGGAGCCTCTCCCATACCCATGTGGAGAGACAAAAGGATTATTCTAAGTGCAGAATTAGCAGGTGAGAGCTGGTATGCATAATTTGAGTTGTTGTTAGAGAAGGAAAAATGAAGGGAGGGGGTTGGGAGAGAAAGACAGGATATTAAATAATTTAAAATAGCAAGATTGTGAGGAAGGAAAAAATGCAGAATATTTAAATAAAAAATTAACAAAATTTTAGAAGCATTAAATGATAAAATATAGTAAAATGACAAAAATGTGGGAGAAGAGCAGGTAGGTAAAAGAACCAAAATGTAAGATTAGAAAGTAAAAAGAGAAAAGTGAAGCATCTCCTGGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGCTGAGAA	C	G5226638T	HBD	NG_000007.3:g.63564_70978del	coding	Pathogenic
11	5226667	G	GCCAT	A5226673C	HBB	NM_000518.5(HBB):c.221_224dup:p.Leu76fs	coding	Pathogenic/Likely_pathogenic
11	5226749	TCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGG	T	A5226755T	HBB	NC_000011.9:g.5247980_5248508del	coding	Pathogenic
11	5226913	GTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTGAAATAAAGTGTTCTGCGGAAGTTTGAATATGTCTTTTGCAAATATCCTGGGTCAAAGAAAATGCACAGACTTTATGAAATTATAATATAGGTTATATTTATAGTATTCTGAAAGACCAAAATTGTCAAAGCAAGAGCTTTGAAATCCTGATTGGCAGAAATTGTCACCTTCTTAAAGACTTACCCTACAACTTCTTATGCTCAGAAATAGTTTTCCTTTTTCTATTTTGTTTTCTTTTTTAAATGATGAACTATGGATCCTTCTCTTGTGTTGGCAACTGCTGCAGATACCATCATCCTGGCTTCAAGGCAGGGGTTGCTTTTCCAATGGTAGTTACTTAGTGTGACTAGAGTGTAACGCAGACTTTTCTTTCTATTACCCATAATACCCTGCAGGGACAAGGCTGCAAGCTATACTAAGACCATCAAAAGCCCAGGCATACCAGGCAAATAAGTTTCAAGAAGCAATAAATAGTGCAAATTTGGTTATGGTCAGAGCCTCAGTTTCAAATCTAAATCAGCATTCAAAGTTCCTGAAAAACTATTCAAGCTTACTGACATCTTCACTATTGTGAGCTTGCTTCTACTCTGTGAATGGATGCCACAGCAGGTGCAGGTCTATTCTACTTTTATTCCAGCCCCACTGACCACAACACACACACACACACACACACACACACACACACAAGTCCTCAAAAAAGAGACAGCGAGAGAGACAGAGGTCCATTTCCTTTACTCCAGTCTATTAATCTTTCTTAAGTCCTAATGTTTTATATCAGAATGGCCCTAGTCTGGGTATACTTAGAGGATGAATATTAACTTCCTCCATGAAAATCATGACACTCATCTATGGGAGTGTGGTTTTATCATTTGTTTCAAAAGCAGCACTTGACTAGAGTATTTTTATACATGCTCTACTGTTTAGTCTAAAATTCCCCAAGTGAGACATTTTAGCAATCTACTGTATATGTTCCTAGGTCAAGCACAGTCTAGCTACTTGCTACAGACTTCTCTCGCAGATACACAATCTCTCAGTAAACACAACTCAGCAGCTCTCAGAATTAATTAATTAAAATGAAATAAAAATGCTCCAAGAAAACCAGAACCCATAGAAACAAACCGCACACACACAAAATAGTTTGGAAATAGGATAGTTTAGTTCACTTTAAAAAGTTGTATTTCTTACCAAAAAGCAATAAAGTCAACATAGACAGAACTTTGCTAAAGTATATGCATAATTATTACAGAAAAATTTATATTTCAGTCTGCACCTTGTTCATTAATATTTCCTCCACTGGGCTCAGATTTTCATTCAGAATTAGCTTTTTTTTAACCTCATTAAGTGGGCCATGGTGTCAATTTATGGAGAGCAGAGGTACAGTCTTCAGATAAATTTGAGATTGCATCTCTTTAGAGGTAGAATCTTGGCTTCAGTCTGAACACCCTTTACAAACATGTAGGCATTAATTCAGAGGACTGCTCTGAAGCTCAAGAGATGGATGATTTAGGAGACTATTAGGCTTAATTCTCCTGACATTAAATTATTTTATTGAAAAATTTTCATGAACTCAAATTCACATTATTACGTCCTCTCTTCCCTTCCTCTCTCCCTCTCTTTCACACACACACACACCCTTTCATTCAGACATACTGAACATAGTTTATAAAGCAACGCCATAGTGAGAAAAGAAAAACAACCATTTGATAAATTATCAAATAAAATTAAAGCCAAATCTTGAGGAATTAATTCCATTCCTATACTTTGTTTTAACTTTCATTTTAAATTTGGGGGTACATGTACAAGTTATATAGGTAAATTGCATATCACTGGGTCTTGATGTACAGATTATTTCATCACTCAGTGATGAACTTAATACCCAATAGGTTCTTTTTCATCGTCTCCCTCTTCCCACCCTCAACCCTCAAGTAGGCCTGGGTGTCTGTTGATCTATTTTTTGTGTCCATGTGTATCATCATTTAGCTCCCACACTCCTAGACTCTTACAAAAGCTCTACTCTAACAAATAATTTTAATATAACAACAAGGTGCCAAGTCTTTTTTCATCTCTTGACCTCCTCATCTTCAATATGAAGATAGCAATGCCTAGCATATAGTAATTGTGTGTGCTCGGCACATGTCCCATCCAGGTGATGTTCTCATGAATTCTCTGGTATTTGGATTTTTAGGGCCAACATCTTGCCTAGACTCACTGACTACTTCTAATGGTGTAGGAATAGAAGGTATAGTAAGCTATATTTGCTCTTTTTTTTTGACTTTTGGAGAAAGGAATGTAGTTTGTTTTCCCTATCAAGATCATAAGGTCTACAATCTCTCTTACTGTCTTTCGAATACCACACAAGTATCTCCTTTTAATATCTTACTCTTATGAGAACTTCCCTATGCTCAGGAATGTGAAAGTGATCTTCCCCAAAATGCCCTGAGTAGCTCTGCTTCTGATATGTAAACCAGTGGTTCCTAAATATCTTATTCAGATATAAAGAGTTCTCAGTGCCTACTATGTATAATGACTTAAGGAAAACACATGGATATAAAAGAGCTTCTGCTGCCAGTCAATTCAAAATGTTGTGATCAAAACAGTTAACTATAACACATTGTCAGTATATTCTGGCAGTACAGACAGAGTTACTGTGAAAGCACTTTCAAACACAAGGAAACAACAGATTCTGTTTAGGTATTCAAGTAAGTTTAAAATTAATCAACATGCATATAATACAGATTTTTAAAAATGTATACAACTGAGAAAGTTCTAAAAATCCTTCTAATTTTACCTATGGCAAAAATGGTGCTCAAGGAAAAAAATATTACTCCTATGATCAGAAAGGAAATAACTGTTCGGTTGTTTACTGCATGCTTCCTCTTTGTATGTTGTAGCATTAACAACAAAGAAACACTGTGCGATGGTATTATTAATATTGTCCTCTAATTCCAGAAGTTCTAAAGCAAGGAATAATCATTCCTTCATTTACTCATTTACTCATTCGTTCATTCATTCACTGTTTTCTTGAATAAATATTTTCTTTCTGCCCATTGATGAATTTAATATGAGGCACAGTAGGCATGTAAGAAGGTAGAGAATAGGCAGAATTGCTTATAAAGCACGGAGTGTGTGTGTGTGCATGAAATAAATAAGAAAAATATAAAAATATAAAAAATGGTGTGGGGGAGGGTTTGGAAAGATTTTTTGGGTAGTATAGAGAAGTTTATTGTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCTAGAACCTCTGCAGTGCCAGTATTATCTTTGTATCAAGAGTTCTTGATAATTTCTGCTCTTTGGAGGTAGAAGTGTCACCCATTAATGCCTTGTACGGTTCCCTTGCTTTTCTCTTTTCCCATGTACTCTTTGTAAAATAAACAAGTGCTCCCTATCTGTAGAGCCTCAGGAACCTTCTTACACACCTGGACAAAAAAATGAAATAAGTGAAATTAATCAGGAAGTTGAGCTGAACATTCTTTATTAGGCAGAAGCCATACCCTTGAAGTAGGCATTGTGTTCCCAAGTTCAGAAAATAGAATCTAGGGAAATAGGGTCTTCTTATGGTTATCAGGAAACAGTCCAGGATCTCAATGGTACTTGTGAGCCAGGGCATTAGCCACACCAGCCACCACCTTCTGATAGGCAGCCTGCATTTGTGGGGTGAATTCCTTGCCAAAGTTGCGGGCCAGCACACACACCAGCACATTGCCCAAGAGCTGCGGAGAAGAGGTAGGCAGATACATGCATATGGTTAACAGAGAAATAAAGACTGGCTTCTGAGAAACTGAGCCAACACCCATTTTTTTCTGCCCAAATCTTAGACAAAACTGATCCCCAGGTTATTCCCATCAGCATAAATAAGTACATATATGAATGCATACATATAACATATATCTATACACACACATCCTCTATGTACTTAACTAGCATGTAGTCTATATATGTACATATATGCTATATATGCTGTATAATACTATATACAAATTAATTCCAAATTAGTTTTAATTTTGTATGTGTATATAGCATATACAAATTAATTACTATAAACAGATTAATAGATACAAATTAATTGATTAATCAGTGTGATGATGGGCTGTCTCCTAGCAACGACTTCTGCCCCACCTCCAGTGTAACTGCCTAGTCTTTCATAATCAAATATTCACTTTCCTTTCCATTCCATTTACTACAGAATTTATAAAATTCCAATTATTCCTTATTGTAAAATGATTTATAGCCTCTAAAACAGTATTCTATGCCTCTCATCTTTGAGTTGGAGCCTCTCCCATACCCATGTGGAGAGACAAAAGGATTATTCTAAGTGCAGAATTAGCAGGTGAGAGCTGGTATGCATAATTTGAGTTGTTGTTAGAGAAGGAAAAATGAAGGGAGGGGGTTGGGAGAGAAAGACAGGATATTAAATAATTTAAAATAGCAAGATTGTGAGGAAGGAAAAAATGCAGAATATTTAAATAAAAAATTAACAAAATTTTAGAAGCATTAAATGATAAAATATAGTAAAATGACAAAAATGTGGGAGAAGAGCAGGTAGGTAAAAGAACCAAAATGTAAGATTAGAAAGTAAAAAGAGAAAAGTGAAGCATCTCCTGGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGCTGAGAAAAAGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCTAGCACCTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGAGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGTAATCTGAGGGTAGGAAAACAGCCCAAGGGACAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTACACATGCCCAGTTTCCATTTGCCTCCTTGAGCCTCTCTTAT	G	T5226914A	HBD	NM_000518.4(HBB):c.-7305_92+16del	noncoding	Pathogenic
11	5226929	CCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGT	C	C5226930A	HBB	NM_000518.5(HBB):c.-50_92del:p.Met1fs	noncoding	Pathogenic
11	5226991	C	CA	G5226993A	HBB	NM_000518.5(HBB):c.30dup:p.Ala11fs	coding	Pathogenic
11	5284246	AAGCTAAGCTTTCATTAAAAAAAGTCTAACCAGCTGCATTCGACTTTGACTGCAGCAGCTGGTTAGAAGGTTCTACTGGAGGAGGGTCCCAGCCCATTGCTAAATTAACATCAGGCTCTGAGACTGGCAGTATATCTCTAACAGTGGTTGATGCTATCTTCTGGAACTTGCCTGCTACATTGAGACCACTGACCCATACATAGGAAGCCCATAGCTCTGTCCTGAACTGTTAGGCCACTGGTCCAGAGAGTGTGCATCTCCTTTGATCCTCATAATAACCCTATGAGATAGACACAATTATTACTCTTACTTTATAGATGATGATCCTGAAAACATAGGAGTCAAGGCACTTGCCCCTAGCTGGGGGTATAGGGGAGCAGTCCCATGTAGTAGTAGAATGAAAAATGCTGCTATGCTGTGCCTCCCCCACCTTTCCCATGTCTGCCCTCTACTCATGGTCTATCTCTCCTGGCTCCTGGGAGTCATGGACTCCACCCAGCACCACCAACCTGACCTAACCACCTATCTGAGCCTGCCAGCCTATAACCCATCTGGGCCCTGATAGCTGGTGGCCAGCCCTGACCCCACCCCACCCTCCCTGGAACCTCTGATAGACACATCTGGCACACCAGCTCGCAAAGTCACCGTGAGGGTCTTGTGTTTGCTGAGTCAAAATTCCTTGAAATCCAAGTCCTTAGAGACTCCTGCTCCCAAATTTACAGTCATAGACTTCTTCATGGCTGTCTCCTTTATCCACAGAATGATTCCTTTGCTTCATTGCCCCATCCATCTGATCCTCCTCATCAGTGCAGCACAGGGCCCATGAGCAGTAGCTGCAGAGTCTCACATAGGTCTGGCACTGCCTCTGACATGTCCGACCTTAGGCAAATGCTTGACTCTTCTGAGCTCAGTCTTGTCATGGCAAAATAAAGATAATAATAGTGTTTTTTTATGGAGTTAGCGTGAGGATGGAAAACAATAGCAAAATTGATTAGACTATAAAAGGTCTCAACAAATAGTAGTAGATTTTATCGTCCATTAATCCTTCCCTCTCCTCTCTTACTCATCCCATCACGTATGCCTCTTAATTTTCCCTTACCTATAATAAGAGTTATTCCTCTTATTATATTCTTCTTATAGTGATTCTGGATATTAAAGTGGGAATGAGGGGCAGGCCACTAACGAAGAAGATGTTTCTCAAAGAAGCCATTCTCCCCACATAGATCATCTCAGCAGGGTTCAGGAAGATAAAGGAGGATCAAGGTCGAAGGTAGGAACTAAGGAAGAACACTGGGCAAGTGGATCCAGGTTGTCCAACGCTGAAAGTAGGAATCTAAGCACTAGTCTCTGGATGCTAGGAGGGCCTCTGCATGGGTAACTCTTTCAACTAGCCAGGGGCTGGACTGTGGAGAAACCATTTCCAGATAGAAGTGAGGAGATTCCAGCAGGAAACACTTAAGAGAGGATCCCTGGAAGTTCGGGGCAGGAGGCTCCCTGTCACATGAAGGAAACCTGCTCAGCGTAGGCTCTAGGTTCTTCCCTACTCTTATCCAATGGGGCTTCTGATTTTAAGCCAGTCTTCACAAAGCCCCAGATTTCTACATGCTGGAGCCCTGAATGGGCAGGAAGCATTGCGGTTTCCATTTCATTCAGAGCTCTTTCATACCCTGCTTCCCCATAGTTTGTCTCAACATTTCTGTTGATAATCTGATTCATGCAACCAAGAATTATGAGAGAGCCTTCAGTCATGCCTAGGCCTGCATTTATTGTTGTGCATATGATGGGGTAGCAGACAAGAAAACGTTAACAGCATAGACTTTCTCAGAGCTATATGAGTTTGGGAATTAATCAAGACCAGCCTTTTGCTCAGGGTAGAAATCCCCTATAGGGATTTATTCAATGATGGGTTAAAAGCTTTCTATATGGTGAGGAGCTCACAGATTTTCCAAGCCCTTGCTTTTGCTAGACAGCTTAATGTTTATGAAATTCTTACACACAGAAGAATCTTCTAATCCTGGGTTACATAATATAACTTGATTCCCTATTCCAGAAGATAATATTCCCATATTCTGAAGCATTCATGCATTTGTTAAATAATAGGCATAGTGACAAGTGCCAGAACTCTAACAGTCAACCAGAGAGCCACAGTTTTCAACTTCACAAAGTTAACCATCTAACTGAAGACAGCAGCAATCAAAACCACCACCCCTTCTCCACATGGTGTAGTCTTTCCTGATGTCAGGGATGTTAGGCTCAGGTTAGGAAAGTCAGACTATCATCCCAGAGCAGGACACAGACGAATAAAGTGTAATTTTTTAGTCACTTAGGAAAAACAGTGGAATGCAAAGAGTAAAAAATGCTTTCTGAATGGATAACTTGGCCTGGGAGGCCTTTGGAAGCAGAGACTGGAGCTTAAATTTAAACATCTTTGTATCCCCAGCATCCAGCATACAGACTGCCAAGAAGTACATGTCAATAAATATTTATTGGATAGTGAGCAAAGACATAATTAGGACCAAATCTCAATTCTACTATTTGCTAGTAGTTTATGTTTGTGTGTGTGAGAGTGTATGCTTGAGCAAGTTGAGAGGTAGTTTTTTTAACTGTAGTAAAATGGGGATAATAATAGTATCTACCTGAAAGAATCCAAGAGTATTAAATATGATTAATTATGCAAAGCACTAATTACAGTCTCTGATAGCCTTCAATAAATGTCAGTTATTTTTATTATTACAGTTAAAGATGAATGGGCATAAAGTACAGAACACTAGTTTTCACCTGCAGCAAGAATGATTGCAGTTAAACAAAAAATACTAGCAAACATTTCTAGAGTAGTTAGCATTTATAAGTCACTGCTTTAAACTCTTTGCATGTATTAACTCACTCGGGCTGCAGAACAATCTTATGAGCCTGTTAAAACTCCTGTAATCATGCTTATAATCCCAGCACTTTGGAAGGCTGAGGTGGGCAGATTGCTTGAGCTCCGGAGTCTGAGACCATCCTGTGTAACATGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCGAGGTATGGTGGTGTGTACCTGTGGTTCCAGCTACTCAGGATGTTGAGGTGGGAGGACCGCTTGAGCCTGGGAAGTGCAAGTTGCAGTGAGCCGAGATTTTGCCACTACACTCCCATTTGGGTGACAGAGTGAGACCCTTTCTCAAAAACAAACTAATTAAAAAACCCTCCATTTTACAGATGAAGAAACTGAGTCATACAACTACTAAGAGAAACTGAGTCACTAATCACTCAGGTGGTCTGGCTCCAGCATCTGTACTCTTAATCTCTGCTCTATACTGCCCAAGACTTTTATAAAGTCAAGGGTTGAGTCACTGAAATGAGTTATTGGGATGGCTGTGTGGGAAGGGTGCTAAGTTCTTTCCTAAAGGTATGTGAGAATACAAAGGAAAGAAGCATCCTCCTTTTTACACACGTGAACTAGTGCATGCAAATCTGACACTCAGTGGGCCTGGGTGAAGGTGAGAATTTTATTGCTGAATGAGAGCCTCTGGGGACATCTTGCCAGTCAATGAGTCTCAGGTTCAATTTCCTTCTCAGTCTTGGAGTAACAGAAGCTCATGCATTTAATAAACGGAAATTTTGTATTGAAATGAGAGCCATTGGAAATCATTTACTCCAGACTCCTACTTATAAAAAGAGAAACTGAGGCTCAGAGAAGGGTGGGGACTTTCTCAGTATGACATGGAAATGATCAGGCTTGGATTCAAAGCTCCTGACTTTCTGTCTAGTGTATGTGCAGTGAGCCCCTTTTCCTCTAACTGAAAGAAGGAAAAAAAAATGGAACCCAAAATATTCTACATAGTTTCCATGTCACAGCCAGGGCTGGGCAGTCTCCTGTTATTTCTTTTAAAATAAATATATCATTTAAATGCATAAATAAGCAAACCCTGCTCGGGAATGGGAGGGAGAGTCTCTGGAGTCCACCCCTTCTCGGCCCTGGCTCTGCAGATAGTGCTATCAAAGCCCTGACAGAGCCCTGCCCATTGCTGGGCCTTGGAGTGAGTCAGCCTAGTAGAGAGGCAGGGCAAGCCATCTCATAGCTGCTGAGTGGGAGAGAGAAAAGGGCTCATTGTCTATAAACTCAGGTCATGGCTATTCTTATTCTCACACTAAGAAAAAGAATGAGATGTCTACATATACCCTGCGTCCCCTCTTGTGTACTGGGGTCCCCAAGAGCTCTCTAAAAGTGATGGCAAAGTCATTGCGCTAGATGCCATCCCATCTATTATAAACCTGCATTTGTCTCCACACACCAGTCATGGACAATAACCCTCCTCCCAGGTCCACGTGCTTGTCTTTGTATAATACTCAAGTAATTTCGGAAAATGTATTCTTTCAATCTTGTTCTGTTATTCCTGTTTCAATGGCTTAGTAGAAAAAGTACATACTTGTTTTCCCATAAATTGACAATAGACAATTTCACATCAATGTCTATATGGGTCGTTGTGTTTGCTGTGTTTGCAAAAACTCACAATAACTTTATATTGTTACTACTCTAAGAAAGTTACAACATGGTGAATACAAGAGAAAGCTATTACAAGTCCAGAAAATAAAAGTTATCATCTTGAGGCCTCAGCTTTCTAGGAATAATATCAATATTACAAAATTAATCTAACAATTATGAACAGCAATGAGATAATGTGTACAAAGTACCCAGACCTATGTGGTAGAGCATCAAGGAAGCGCATTGCGGAGCAGTTTTTTGTTTGTTTGTTTTTGTATTCTGTTTCGTGAGGCAAGGTTTCACTCTGCTGTCCAGGCTGGAGTGCAGTGGCAAGATCATGTCTCACTGCAGCCTTGACCTCCTG	A	A5284251C	HBB	NC_000011.10:g.5284251_5289110del	noncoding	Pathogenic
11	6390633	GC	G	C6390637A	SMPD1	NM_000543.5(SMPD1):c.39del:p.Arg14fs	coding	Pathogenic
11	6390640	GT	G	T6390641C	SMPD1	NM_000543.5(SMPD1):c.43del:p.Ser15fs	coding	Pathogenic
11	6390653	C	CAGGG	C6390659G	SMPD1	NM_000543.5(SMPD1):c.57_60dup:p.Gln21fs	coding	Pathogenic
11	6390700	C	CCTGGCGCTGGCG	T6390705C	SMPD1	NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG:p.Leu35_Val36insAlaLeuAlaLeu	coding	Benign
11	6390704	G	GCGC	T6390705C	SMPD1	NM_000543.5(SMPD1):c.106_107insCGC:p.Val36delinsAlaLeu	coding	Benign
11	6390705	T	TGGCGCTGGC	C6390707G	SMPD1	NM_000543.5(SMPD1):c.108_109insGCGCTGGCG:p.Val36_Leu37insAlaLeuAla	coding	Benign
11	6390741	CTCTG	C	T6390746A	SMPD1	NM_000543.5(SMPD1):c.148_151del:p.Ser50fs	coding	Pathogenic/Likely_pathogenic
11	6390771	CG	C	G6390773C	SMPD1	NM_000543.5(SMPD1):c.175del:p.Ala59fs	coding	Pathogenic
11	6390788	C	CT	C6390792T	SMPD1	NM_000543.5(SMPD1):c.193dup:p.Ser65fs	coding	Pathogenic
11	6390788	CT	C	T6390791C	SMPD1	NM_000543.5(SMPD1):c.193del:p.Ser65fs	coding	Pathogenic/Likely_pathogenic
11	6390793	T	TC	A6390798C	SMPD1	NM_000543.5(SMPD1):c.199dup:p.Gln67fs	coding	Pathogenic
11	6390801	GCC	AGGGGAGA	G6390801A	SMPD1	NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA:p.Gly68fs	coding	Pathogenic
11	6390802	CCATCCTGCCAGGTTACATCG	C	C6390806A	SMPD1	NM_000543.5(SMPD1):c.208_227del:p.Pro70fs	coding	Pathogenic
11	6391535	A	AGGCCTGT	C6391549T	SMPD1	NM_000543.5(SMPD1):c.477_483dup:p.Leu162fs	coding	Pathogenic
11	6391563	CT	C	T6391564G	SMPD1	NM_000543.5(SMPD1):c.499del:p.Cys167fs	coding	Pathogenic
11	6391566	T	TG	C6391570G	SMPD1	NM_000543.5(SMPD1):c.504dup:p.His169fs	coding	Pathogenic
11	6391569	G	GC	A6391571C	SMPD1	NM_000543.5(SMPD1):c.505dup:p.His169fs	coding	Pathogenic/Likely_pathogenic
11	6391632	A	AC	T6391638C	SMPD1	NM_000543.5(SMPD1):c.572dup:p.Pro191_Ser192insTer	coding	Pathogenic
11	6391632	AC	A	C6391637T	SMPD1	NM_000543.5(SMPD1):c.572del:p.Pro191fs	coding	Pathogenic
11	6391638	T	TAGCCCCCC	A6391653C	SMPD1	NM_000543.5(SMPD1):c.580_587dup:p.Gly197fs	coding	Pathogenic
11	6391640	G	GC	A6391647C	SMPD1	NM_000543.5(SMPD1):c.581dup:p.Ala195fs	coding	Pathogenic/Likely_pathogenic
11	6391688	AC	A	C6391690T	SMPD1	NM_000543.5(SMPD1):c.625del:p.Leu209fs	coding	Pathogenic
11	6391884	TA	T	A6391885T	SMPD1	NM_000543.5(SMPD1):c.820del:p.Met274fs	coding	Pathogenic
11	6391998	AGTG	GAC	A6391998G	SMPD1	NM_000543.5(SMPD1):c.933_936delinsGAC:p.Val312fs	coding	Pathogenic
11	6392055	T	TC	T6392062C	SMPD1	NM_000543.5(SMPD1):c.996dup:p.Phe333fs	coding	Pathogenic
11	6392116	TG	T	G6392119A	SMPD1	NM_000543.5(SMPD1):c.1054del:p.Glu352fs	coding	Pathogenic
11	6392130	GCCTGCCGAAGC	G	C6392136G	SMPD1	NM_000543.5(SMPD1):c.1071_1081del:p.Glu358fs	coding	Pathogenic
11	6393219	TG	T	G6393225T	SMPD1	NM_000543.5(SMPD1):c.1101del:p.Phe368fs	coding	Pathogenic
11	6393219	T	TG	T6393226G	SMPD1	NM_000543.5(SMPD1):c.1101dup:p.Phe368fs	coding	Pathogenic/Likely_pathogenic
11	6393274	AT	A	T6393275G	SMPD1	NM_000543.5(SMPD1):c.1151del:p.Met384fs	coding	Pathogenic
11	6393648	ACT	A	C6393649G	SMPD1	NM_000543.5(SMPD1):c.1296_1297del:p.His432fs	coding	Pathogenic
11	6394285	AG	A	G6394287C	SMPD1	NM_000543.5(SMPD1):c.1576del:p.Ala526fs	coding	Pathogenic
11	6394354	C	CA	C6394355A	SMPD1	NM_000543.5(SMPD1):c.1643_1644insA:p.Asn549fs	coding	Pathogenic
11	6394491	ACT	A	C6394494T	SMPD1	NM_000543.5(SMPD1):c.1783_1784del:p.Ala597fs	coding	Pathogenic/Likely_pathogenic
11	6394525	GC	G	C6394528T	SMPD1	NM_000543.5(SMPD1):c.1817del:p.Pro606fs	coding	Pathogenic/Likely_pathogenic
11	6498732	AGCAG	A	G6498737C	DNHD1	NM_144666.3(DNHD1):c.522_525del:p.Arg174fs	coding	Pathogenic
11	6546665	C	CTGCCCTACTGCA	G6546677A	DNHD1	NM_144666.3(DNHD1):c.5737_5738insATGCCCTACTGC:p.Leu1912_Arg1913insHisAlaLeuLeu	coding	Benign
11	6614644	C	CT	A6614646T	TPP1	NM_000391.4(TPP1):c.1593dup:p.Glu532fs	coding	Pathogenic
11	6614679	CG	C	G6614682T	TPP1	NM_000391.4(TPP1):c.1558del:p.Arg520fs	coding	Pathogenic
11	6614865	C	CATCA	A6614871T	TPP1	NM_000391.4(TPP1):c.1548_1551dup:p.Val518Ter	noncoding	Pathogenic
11	6614920	A	AG	C6614927G	TPP1	NM_000391.4(TPP1):c.1496dup:p.Leu500fs	coding	Pathogenic/Likely_pathogenic
11	6614920	AG	A	G6614926C	TPP1	NM_000391.4(TPP1):c.1496del:p.Pro499fs	coding	Pathogenic
11	6614945	TG	T	G6614946C	TPP1	NM_000391.4(TPP1):c.1471del:p.His491fs	coding	Pathogenic
11	6614967	T	TC	A6614974C	TPP1	NM_000391.4(TPP1):c.1449dup:p.Ile484fs	coding	Pathogenic/Likely_pathogenic
11	6615161	TGATTCTCACCGAGGTTCCGGACACCCATGGAATGGGCACTCTGTTGCTGACCACCCAGTAGCCATCAGAAAG	T	G6615162T	TPP1	NM_000391.4(TPP1):c.1363_1425+9del	noncoding	Pathogenic
11	6615269	TGAAG	T	G6615270T	TPP1	NM_000391.4(TPP1):c.1323_1326del:p.Ser440_Tyr441insTer	coding	Pathogenic
11	6615306	C	CAG	G6615309A	TPP1	NM_000391.4(TPP1):c.1288_1289dup:p.Leu430_Ser431insTer	coding	Pathogenic
11	6615328	TC	T	C6615330T	TPP1	NC_000011.9:g.6636560del	coding	Pathogenic
11	6616062	G	GA	C6616063A	TPP1	NM_000391.4(TPP1):c.1087_1088insT:p.Ala363fs	coding	Pathogenic
11	6616400	GTCC	G	C6616403A	TPP1	NM_000391.4(TPP1):c.987_989del:p.Glu329del	coding	Pathogenic
11	6616490	TC	T	C6616493T	TPP1	NM_000391.4(TPP1):c.899del:p.Gly300fs	coding	Pathogenic
11	6616789	TGTGC	T	G6616790A	TPP1	NM_000391.4(TPP1):c.754_757del:p.Ala252fs	coding	Pathogenic
11	6617078	C	CTGTA	C6617079T	TPP1	NM_000391.4(TPP1):c.583_584insTACA:p.Gly195fs	coding	Pathogenic
11	6617400	CA	C	A6617401G	TPP1	NM_000391.4(TPP1):c.408del:p.Glu137fs	coding	Pathogenic
11	6617648	G	GA	G6617652A	TPP1	NM_000391.4(TPP1):c.357dup:p.Leu120fs	coding	Pathogenic/Likely_pathogenic
11	6618810	CACCAGCTCCGAGAGTCTT	C	A6618811T	TPP1	NM_000391.4(TPP1):c.177_194del:p.Arg60_Val65del	coding	Pathogenic
11	6619216	CGGGCTGTAACTGCATTTGCCAGAGAGGATGA	C	T6619221A	TPP1	NM_000391.4(TPP1):c.38_68del:p.Leu13fs	coding	Pathogenic
11	6629655	A	AC	A6629663C	DCHS1	NM_003737.4(DCHS1):c.5035+10dup	noncoding	Benign
11	6631289	TCTC	T	C6631293T	DCHS1	NM_003737.4(DCHS1):c.3772+19_3772+21del	noncoding	Benign
11	6633226	ACATTCCTATGCCT	A	T6633230G	DCHS1	NM_003737.4(DCHS1):c.2455+173_2456-171del	noncoding	Benign
11	6634139	GA	G	A6634141G	DCHS1	NM_003737.4(DCHS1):c.1964del:p.Phe655fs	coding	Pathogenic
11	6641514	CCAG	C	G6641538A	DCHS1	NM_003737.4(DCHS1):c.76CTG[7]:p.Leu33del	coding	Benign/Likely_benign
11	6641514	C	CCAG	A6641541G	DCHS1	NM_003737.4(DCHS1):c.76CTG[9]:p.Leu33dup	coding	Benign
11	7039005	TG	T	G7039006T	NLRP14	NM_176822.4(NLRP14):c.289+131del	noncoding	Benign
11	7039128	AAGGAATTGAGTGAT	A	A7039137T	NLRP14	NM_176822.4(NLRP14):c.289+262_289+275del	noncoding	Benign
11	7060188	CTCTT	C	T7060189C	NLRP14	NM_176822.4(NLRP14):c.2804+125_2804+128del	noncoding	Benign
11	7088689	G	GTAA	T7088694A	RBMXL2	Single_allele	noncoding	Benign
11	7995096	T	TG	C7995098G	EIF3F	NM_003754.3(EIF3F):c.861dup:p.Gln288fs	coding	Pathogenic
11	8097264	C	CA	C8097267A	TUB	NM_177972.3(TUB):c.726dup:p.Pro243fs	coding	Pathogenic
11	8097315	G	GC	A8097322C	TUB	NM_177972.3(TUB):c.781dup:p.Gln261fs	coding	Pathogenic
11	8101458	CTCTG	C	C8101464G	TUB	NM_177972.3(TUB):c.1388-22_1388-19del	noncoding	Benign
11	9180947	AT	A	T9180949C	DENND5A	NM_015213.4(DENND5A):c.1274del:p.Asn425fs	coding	Pathogenic
11	9471551	G	GT	G9471553T	ZNF143	NM_003442.6(ZNF143):c.112+132dup	noncoding	Benign
11	9472914	C	CT	A9472932T	ZNF143	NM_003442.6(ZNF143):c.205+162dup	noncoding	Benign
11	9497828	CT	C	T9497848G	ZNF143	NM_003442.6(ZNF143):c.967+48del	noncoding	Benign
11	9497828	CTT	C	T9497847G	ZNF143	NM_003442.6(ZNF143):c.967+47_967+48del	noncoding	Benign
11	9516007	AT	A	T9516008A	ZNF143	NM_003442.6(ZNF143):c.1525-193del	noncoding	Benign
11	9784415	T	TATAA	T9784416A	SBF2	NM_030962.4(SBF2):c.5254_5255insTTAT:p.Lys1752fs	coding	Pathogenic/Likely_pathogenic
11	9789163	TG	T	G9789165C	SBF2	NM_030962.4(SBF2):c.4877del:p.Pro1626fs	coding	Pathogenic
11	9796157	G	GT	A9796170T	SBF2	NM_030962.4(SBF2):c.4444-212dup	noncoding	Benign
11	9832209	TAG	T	G9832215T	SBF2	NM_030962.4(SBF2):c.3652+9CT[2]	noncoding	Benign/Likely_benign
11	9832437	TAGAGA	T	G9832444T	SBF2	NM_030962.4(SBF2):c.3456-22_3456-18del	noncoding	Benign/Likely_benign
11	9992823	A	ATG	A9992826T	SBF2	NM_030962.4(SBF2):c.1167+165_1167+166dup	noncoding	Benign
11	9993388	G	GTGTTCAGC	C9993398G	SBF2	NM_030962.4(SBF2):c.1054-293_1054-286dup	noncoding	Benign
11	9998390	T	TA	T9998398A	SBF2	NM_030962.4(SBF2):c.862-12dup	noncoding	Benign
11	10002311	T	TGTTAAAATACA	G10002319T	SBF2	NM_030962.4(SBF2):c.752+245_752+246insTTTTAACTGTA	noncoding	Benign
11	10029833	TC	T	C10029834A	SBF2	NM_030962.4(SBF2):c.444del:p.Asn149fs	coding	Pathogenic
11	10042994	G	GA	T10043004A	SBF2	NM_030962.4(SBF2):c.142-14dup	noncoding	Benign/Likely_benign
11	10293917	T	TCCCCGACGCCCGG	T10293930G	SBF2	NM_030962.4(SBF2):c.55+97_55+98insCGGGCGTCGGGGC	noncoding	Benign
11	10752658	CT	C	T10752662G	CTR9	NM_014633.5(CTR9):c.46-10del	noncoding	Benign
11	10760332	G	GA	G10760339A	CTR9	NM_014633.5(CTR9):c.741+17dup	noncoding	Benign
11	10760594	C	CA	C10760608A	CTR9	NM_014633.5(CTR9):c.741+286dup	noncoding	Benign
11	10764476	A	AAGTTG	C10764482A	CTR9	NM_014633.5(CTR9):c.1413+41_1413+45dup	noncoding	Benign
11	10773884	C	CA	T10773904A	CTR9	NM_014633.5(CTR9):c.2728-109dup	noncoding	Benign
11	10775729	CTTTCTT	C	T10775737A	CTR9	NM_014633.5(CTR9):c.3095+104_3095+109del	noncoding	Benign
11	12937089	C	CT	A12937099T	TEAD1	NM_021961.6(TEAD1):c.1168-11dup	noncoding	Benign
11	12937089	CT	C	T12937098A	TEAD1	NM_021961.6(TEAD1):c.1168-11del	noncoding	Benign
11	13492216	CAA	C	A13492218T	PTH	NM_000315.4(PTH):c.*187_*188del	noncoding	Benign
11	13695067	T	TA	C13695072A	FAR1	NM_032228.6(FAR1):c.189+117dup	noncoding	Benign
11	13700651	C	CTCT	C13700664T	FAR1	NM_032228.6(FAR1):c.365+160TCT[5]	noncoding	Benign
11	13707888	CT	C	T13707893A	FAR1	NM_032228.6(FAR1):c.366-7del	noncoding	Benign
11	13712291	G	GA	T13712305A	FAR1	NM_032228.6(FAR1):c.887+258dup	noncoding	Benign
11	13712763	GTTA	G	A13712769T	FAR1	NM_032228.6(FAR1):c.888-197_888-195del	noncoding	Benign
11	13727538	A	AT	G13727546T	FAR1	NM_032228.6(FAR1):c.1258-11dup	noncoding	Benign
11	14294372	A	AT	A14294383T	RRAS2	NM_012250.6(RRAS2):c.408+89dup	noncoding	Benign
11	14294582	TA	T	A14294594T	RRAS2	NM_012250.6(RRAS2):c.300-4del	noncoding	Benign
11	14294582	T	TA	T14294595A	RRAS2	NM_012250.6(RRAS2):c.300-4dup	noncoding	Benign
11	16049755	CTA	C	T16049756A	SOX6	NM_001367873.1(SOX6):c.1433_1434del:p.Ser477_Leu478insTer	coding	Pathogenic
11	16095914	TA	T	A16095931G	SOX6	NM_001367873.1(SOX6):c.1101+81del	noncoding	Benign
11	16186654	TC	T	C16186656A	SOX6	NM_001367873.1(SOX6):c.708+128del	noncoding	Benign
11	16318372	C	CT	A16318388T	SOX6	NM_001367873.1(SOX6):c.445+59dup	noncoding	Benign
11	17387686	G	GC	A17387693C	KCNJ11	NM_000525.4(KCNJ11):c.405dup:p.Arg136fs	coding	Pathogenic/Likely_pathogenic
11	17387759	GAC	G	C17387763G	KCNJ11	NM_000525.4(KCNJ11):c.331_332del:p.Val111fs	coding	Pathogenic
11	17393230	AG	A	G17393232C	ABCC8	NM_000352.6(ABCC8):c.4609-103del	noncoding	Benign
11	17393716	CG	C	G17393718T	ABCC8	NM_000352.6(ABCC8):c.4588del:p.Arg1530fs	coding	Pathogenic
11	17394264	AC	A	C17394266G	ABCC8	NM_000352.6(ABCC8):c.4545+1del	noncoding	Pathogenic
11	17395716	GC	G	C17395719T	ABCC8	NC_000011.9:g.17417264del	coding	Pathogenic
11	17397015	G	GTCTGGCCAGTTCTTTGGGA	A17397037T	ABCC8	NM_000352.6(ABCC8):c.4001_4019dup:p.Gln1341fs	coding	Pathogenic
11	17397208	AGCTCTCT	A	T17397211C	ABCC8	NM_000352.6(ABCC8):c.3966_3972del:p.Glu1323fs	coding	Pathogenic
11	17397228	AG	A	G17397230A	ABCC8	NM_000352.6(ABCC8):c.3952del:p.Leu1317_Leu1318insTer	coding	Pathogenic
11	17397777	C	CA	C17397779A	ABCC8	NM_000352.6(ABCC8):c.3773dup:p.Val1259fs	coding	Pathogenic
11	17402735	A	AT	C17402737T	ABCC8	NM_000352.6(ABCC8):c.3575dup:p.Asp1192fs	coding	Pathogenic
11	17404390	GTTTT	G	T17404393G	ABCC8	NM_000352.6(ABCC8):c.3557+118_3557+121del	noncoding	Benign
11	17404629	AG	A	G17404632T	ABCC8	NM_000352.6(ABCC8):c.3439del:p.Leu1147fs	coding	Pathogenic
11	17406923	G	GCAGTTCCT	G17406924C	ABCC8	NM_000352.6(ABCC8):c.3126_3127insAGGAACTG:p.Leu1043fs	coding	Pathogenic
11	17412473	TG	T	G17412476T	ABCC8	NM_000352.6(ABCC8):c.2556+192del	noncoding	Benign
11	17415004	C	CT	A17415021T	ABCC8	NM_000352.6(ABCC8):c.2291+284dup	noncoding	Benign
11	17415065	G	GAAGAAAA	G17415081A	ABCC8	NM_000352.6(ABCC8):c.2291+225TTTTCTT[3]	noncoding	Benign
11	17416931	T	TGG	T17416936G	ABCC8	NM_000352.6(ABCC8):c.2252_2253dup:p.Ser752fs	coding	Pathogenic
11	17427156	TG	CA	T17427156C	ABCC8	NM_000352.6(ABCC8):c.2117-3_2117-2inv	noncoding	Pathogenic
11	17428594	GA	G	A17428595G	ABCC8	NM_000352.6(ABCC8):c.1893del:p.Gln632fs	coding	Pathogenic
11	17430547	GT	G	T17430562A	ABCC8	NM_000352.6(ABCC8):c.1817+266del	noncoding	Benign
11	17430820	A	AG	A17430822G	ABCC8	NM_000352.6(ABCC8):c.1810dup:p.Leu604fs	coding	Pathogenic
11	17432227	TG	T	G17432229C	ABCC8	NM_000352.6(ABCC8):c.1647del:p.Ile550fs	coding	Pathogenic
11	17442796	GA	G	A17442798G	ABCC8	NM_000352.6(ABCC8):c.1553del:p.Phe518fs	coding	Pathogenic
11	17461587	TG	T	G17461590C	ABCC8	NM_000352.6(ABCC8):c.817del:p.Gln273fs	coding	Pathogenic
11	17461599	GC	G	C17461601T	ABCC8	NM_000352.6(ABCC8):c.805del:p.Ala269fs	coding	Pathogenic/Likely_pathogenic
11	17461761	AC	A	C17461766A	ABCC8	NM_000352.6(ABCC8):c.643del:p.Val215fs	coding	Pathogenic
11	17463472	AG	A	G17463473C	ABCC8	NM_000352.6(ABCC8):c.544del:p.Leu182fs	coding	Pathogenic
11	17463477	CCCAT	C	C17463478A	ABCC8	NM_000352.6(ABCC8):c.536_539del:p.Leu178_Tyr179insTer	coding	Pathogenic/Likely_pathogenic
11	17470179	TC	T	C17470182G	ABCC8	NM_000352.6(ABCC8):c.333del:p.Met112fs	coding	Pathogenic
11	17476627	AC	A	C17476629A	ABCC8	NM_000352.6(ABCC8):c.148+1del	noncoding	Pathogenic
11	17476695	C	CA	G17476699A	ABCC8	NM_000352.6(ABCC8):c.81dup:p.Val28fs	coding	Pathogenic
11	17476700	CA	C	A17476701G	ABCC8	NM_000352.6(ABCC8):c.76del:p.Cys26fs	coding	Pathogenic
11	17476720	CT	C	T17476721G	ABCC8	NM_000352.6(ABCC8):c.56del:p.Gln19fs	coding	Pathogenic
11	17476768	CA	C	A17476769G	ABCC8	NM_000352.6(ABCC8):c.8del:p.Leu3fs	coding	Pathogenic
11	17494534	CA	C	A17494535C	USH1C	NM_153676.4(USH1C):c.2656-159del	noncoding	Benign
11	17501462	G	GC	T17501465C	USH1C	NM_153676.4(USH1C):c.2280+18dup	noncoding	Benign
11	17504707	G	GA	G17504720A	USH1C	NM_153676.4(USH1C):c.2134-22dup	noncoding	Benign
11	17517442	C	CGG	C17517446G	USH1C	NM_005709.4(USH1C):c.1241_1242dup:p.Ala415fs	coding	Pathogenic
11	17520933	G	GT	C17520936T	USH1C	NM_153676.4(USH1C):c.1146dup:p.Gln383fs	coding	Pathogenic/Likely_pathogenic
11	17520940	TG	T	G17520941A	USH1C	NM_153676.4(USH1C):c.1139del:p.Gly379_Ser380insTer	coding	Pathogenic/Likely_pathogenic
11	17521380	CT	C	T17521381G	USH1C	NM_153676.4(USH1C):c.1050del:p.Glu351fs	coding	Pathogenic
11	17522847	ATGAGAAGC	A	G17522849C	USH1C	NM_153676.4(USH1C):c.948_955del:p.Glu316fs	coding	Pathogenic
11	17522944	GC	G	C17522948T	USH1C	NM_153676.4(USH1C):c.877-19del	noncoding	Benign
11	17527058	A	AG	T17527063G	USH1C	NM_153676.4(USH1C):c.497-19dup	noncoding	Benign
11	17527112	A	ACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGC	T17527210C	USH1C	NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]	noncoding	Pathogenic
11	17531165	CG	C	G17531166C	USH1C	NM_153676.4(USH1C):c.375del:p.Ser125fs	coding	Pathogenic/Likely_pathogenic
11	17531167	CTGTCTGCCTGACCGCCTTTGATGAGG	C	T17531170G	USH1C	NM_153676.4(USH1C):c.348_373del:p.His116fs	coding	Pathogenic
11	17531408	C	CA	G17531409A	USH1C	NM_153676.4(USH1C):c.238_239insT:p.Arg80fs	coding	Pathogenic
11	17531408	CG	C	G17531414T	USH1C	NM_153676.4(USH1C):c.238del:p.Arg80fs	coding	Pathogenic
11	17533363	A	ACC	G17533367C	USH1C	NM_153676.4(USH1C):c.37-44_37-43dup	noncoding	Benign
11	17533363	A	AC	G17533367C	USH1C	NM_153676.4(USH1C):c.37-44dup	noncoding	Benign
11	17533370	C	CAA	C17533371A	USH1C	NM_153676.4(USH1C):c.37-49_37-48insTT	noncoding	Benign
11	17544697	CTATT	C	T17544700C	USH1C	Single_allele	noncoding	Benign
11	17548418	CTTTTTTTTTTTTTTTTTTTT	C	T17548437A	OTOG	NM_001292063.2(OTOG):c.216+225_216+244del	noncoding	Benign
11	17559075	G	GGTGCCGGGCACTGGCGGAGT	A17559096G	OTOG	NM_001292063.2(OTOG):c.1128_1147dup:p.Tyr383fs	coding	Pathogenic
11	17560774	CTG	C	G17560776A	OTOG	NM_001292063.2(OTOG):c.1410_1411del:p.Tyr471fs	coding	Pathogenic
11	17572203	CGGTGAGTTGGT	C	T17572206G	OTOG	NM_001292063.2(OTOG):c.2080+2_2080+12del	coding	Pathogenic
11	17573111	C	CG	A17573117G	OTOG	NM_001292063.2(OTOG):c.2119dup:p.Glu707fs	coding	Pathogenic
11	17574878	T	TAACTGGACACCC	T17574880A	OTOG	NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA:p.Tyr818Ter	coding	Pathogenic/Likely_pathogenic
11	17578789	AG	A	G17578791C	OTOG	NM_001292063.2(OTOG):c.2759+265del	noncoding	Benign
11	17606015	GT	G	T17606016G	OTOG	NM_001292063.2(OTOG):c.4037del:p.Val1346fs	coding	Pathogenic
11	17608165	G	GT	C17608172T	OTOG	NM_001292063.2(OTOG):c.4157-125dup	noncoding	Benign
11	17609677	TC	T	C17609680A	OTOG	NM_001292063.2(OTOG):c.4380del:p.Thr1461fs	coding	Pathogenic
11	17610347	CA	C	A17610348G	OTOG	NM_001292063.2(OTOG):c.5048del:p.Gln1683fs	coding	Pathogenic
11	17611046	CAAGT	C	A17611047G	OTOG	NM_001292063.2(OTOG):c.5747_5750del:p.Gln1916fs	coding	Pathogenic
11	17611365	AG	A	G17611368T	OTOG	NM_001292063.2(OTOG):c.6068del:p.Gly2023fs	coding	Pathogenic
11	17613327	C	CCCTT	C17613374T	OTOG	NM_001292063.2(OTOG):c.6439-284CCTT[12]	noncoding	Benign
11	17613327	C	CCCTTCCTTCCTT	C17613374T	OTOG	NM_001292063.2(OTOG):c.6439-284CCTT[14]	noncoding	Benign
11	17613327	C	CCCTTCCTTCCTTCCTT	C17613374T	OTOG	NM_001292063.2(OTOG):c.6439-284CCTT[15]	noncoding	Benign
11	17613327	CCCTTCCTT	C	T17613366C	OTOG	NM_001292063.2(OTOG):c.6439-284CCTT[9]	noncoding	Benign
11	17613327	CCCTT	C	T17613370C	OTOG	NM_001292063.2(OTOG):c.6439-284CCTT[10]	noncoding	Benign
11	17613346	TTCCTTCCTTCCTTCCTTCCTTCCTTCCC	T	C17613372T	OTOG	NM_001292063.2(OTOG):c.6439-240_6439-213del	noncoding	Benign
11	17613350	TTCCTTCCTTCCTTCCTTCCTTCCC	T	C17613374T	OTOG	NM_001292063.2(OTOG):c.6439-238_6439-215del	noncoding	Benign
11	17613374	C	CTCCT	T17613400C	OTOG	NM_001292063.2(OTOG):c.6439-237TCCT[7]	noncoding	Benign
11	17613931	ATTG	A	T17613936G	OTOG	NM_001292063.2(OTOG):c.6528+235_6528+237del	noncoding	Benign
11	17631356	T	TTC	G17631380C	OTOG	NM_001292063.2(OTOG):c.6713-345TC[12]	noncoding	Benign
11	17631356	T	TTCTC	G17631380C	OTOG	NM_001292063.2(OTOG):c.6713-345TC[13]	noncoding	Benign
11	17631356	T	TTCTCTC	G17631380C	OTOG	NM_001292063.2(OTOG):c.6713-345TC[14]	noncoding	Benign
11	17631378	C	CTCTCTG	G17631380C	OTOG	NM_001292063.2(OTOG):c.6713-323_6713-322insCTCTGT	noncoding	Benign
11	17631378	C	CTCTG	G17631380C	OTOG	NM_001292063.2(OTOG):c.6713-323_6713-322insCTGT	noncoding	Benign
11	17631390	G	GTGT	G17631391T	OTOG	NM_001292063.2(OTOG):c.6713-312_6713-311insTGT	noncoding	Benign
11	17631426	C	CAT	G17631441A	OTOG	NM_001292063.2(OTOG):c.6713-275AT[8]	noncoding	Benign
11	17631709	TG	T	G17631710A	OTOG	NM_001292063.2(OTOG):c.6721del:p.Asp2241fs	coding	Pathogenic
11	17634218	CG	C	G17634219A	OTOG	NM_001292063.2(OTOG):c.7418del:p.Arg2473fs	coding	Pathogenic/Likely_pathogenic
11	17634222	TC	T	C17634223G	OTOG	NM_001292063.2(OTOG):c.7422del:p.Phe2474fs	coding	Pathogenic
11	17635696	C	CCTCT	G17635701C	OTOG	NM_001292063.2(OTOG):c.7781_7784dup:p.Tyr2596fs	coding	Pathogenic
11	17641610	TC	T	C17641612T	OTOG	NM_001292063.2(OTOG):c.8191-235del	noncoding	Benign
11	17779446	A	AT	G17779448T	KCNC1	NM_001112741.2(KCNC1):c.1505-9dup	noncoding	Benign
11	18285142	T	TA	G18285159A	HPS5	NM_181507.2(HPS5):c.2951+188dup	noncoding	Benign
11	18286727	G	GA	G18286734A	HPS5	NM_181507.2(HPS5):c.2718-18dup	noncoding	Benign
11	18286910	G	GA	G18286922A	HPS5	NM_181507.2(HPS5):c.2718-211dup	noncoding	Benign
11	18288167	TAAA	T	A18288169G	HPS5	NM_181507.2(HPS5):c.2441-157_2441-155del	noncoding	Benign
11	18291804	CT	C	T18291810C	HPS5	NM_181507.2(HPS5):c.2077del:p.Arg693fs	coding	Pathogenic
11	18293032	C	CTT	G18293040T	HPS5	NM_181507.2(HPS5):c.1785-63_1785-62dup	noncoding	Benign
11	18296015	GAA	G	A18296016G	HPS5	NM_181507.2(HPS5):c.1616_1617del:p.Leu539fs	coding	Pathogenic
11	18296819	A	AAC	T18296824A	HPS5	NM_181507.2(HPS5):c.1487_1488dup:p.Cys497fs	coding	Pathogenic
11	18297003	CAA	C	A18297015G	HPS5	NM_181507.2(HPS5):c.1324-21_1324-20del	noncoding	Benign/Likely_benign
11	18297003	CA	C	A18297016G	HPS5	NM_181507.2(HPS5):c.1324-20del	noncoding	Benign
11	18297003	C	CA	G18297017A	HPS5	NM_181507.2(HPS5):c.1324-32dup	noncoding	Benign
11	18300696	CAAAAA	C	A18300716G	HPS5	NM_181507.2(HPS5):c.985+127_985+131del	noncoding	Benign
11	18300696	CAAAA	C	A18300717G	HPS5	NM_181507.2(HPS5):c.985+128_985+131del	noncoding	Benign
11	18300696	CAAA	C	A18300718G	HPS5	NM_181507.2(HPS5):c.985+129_985+131del	noncoding	Benign
11	18308838	G	GA	T18308847A	HPS5	NM_181507.2(HPS5):c.611+100dup	noncoding	Benign
11	18311495	C	CATT	T18311514A	HPS5	NM_181507.2(HPS5):c.220-62AAT[7]	noncoding	Benign
11	18311511	A	AT	G18311529T	HPS5	NM_181507.2(HPS5):c.220-77dup	noncoding	Benign
11	18311511	A	ATT	G18311529T	HPS5	NM_181507.2(HPS5):c.220-77_220-76dup	noncoding	Benign
11	18311511	A	ATTT	G18311529T	HPS5	NM_181507.2(HPS5):c.220-77_220-75dup	noncoding	Benign
11	18311513	T	TA	T18311514A	HPS5	NM_181507.2(HPS5):c.220-63_220-62insT	noncoding	Benign
11	18311514	T	TA	T18311515A	HPS5	NM_181507.2(HPS5):c.220-64_220-63insT	noncoding	Benign
11	18400566	C	CA	T18400572A	LDHA	NM_005566.4(LDHA):c.245-266dup	noncoding	Benign
11	18405492	ATTGGACTCTCTGTAGCAGAT	A	A18405497C	LDHA	NM_005566.4(LDHA):c.759_778del:p.Leu254fs	coding	Pathogenic
11	18407005	C	CA	T18407015A	LDHA	NM_005566.4(LDHA):c.835-103dup	noncoding	Benign
11	20607463	A	AT	G20607469T	SLC6A5	NM_004211.5(SLC6A5):c.812-11dup	noncoding	Benign
11	20607639	CA	C	A20607642C	SLC6A5	NM_004211.5(SLC6A5):c.975del:p.Lys325fs	coding	Pathogenic
11	20614688	TTA	T	A20614690C	SLC6A5	NM_004211.5(SLC6A5):c.997_998del:p.Ile333fs	coding	Pathogenic
11	20614788	GA	G	A20614789C	SLC6A5	NM_004211.5(SLC6A5):c.1096del:p.Thr366fs	coding	Pathogenic
11	20617903	C	CTAAG	A20617908T	SLC6A5	NM_004211.5(SLC6A5):c.1260+20_1260+23dup	noncoding	Benign
11	20626710	G	GGT	A20626715G	SLC6A5	NM_004211.5(SLC6A5):c.1266_1267dup:p.Tyr423fs	coding	Pathogenic
11	20630602	CAT	C	A20630603G	SLC6A5	NM_004211.5(SLC6A5):c.1500-88_1500-87del	noncoding	Benign
11	20636354	C	CCT	C20636364T	SLC6A5	NM_004211.5(SLC6A5):c.1680_1681dup:p.Pro561fs	coding	Pathogenic
11	20637192	AG	A	G20637193T	SLC6A5	NM_004211.5(SLC6A5):c.1759del:p.Ile586_Val587insTer	coding	Pathogenic
11	22218075	CT	C	T22218082C	ANO5	NM_213599.3(ANO5):c.139-164del	noncoding	Benign
11	22221121	GAT	G	A22221122T	ANO5	NM_213599.3(ANO5):c.206_207del:p.Asp69fs	coding	Pathogenic
11	22226040	AG	A	G22226041A	ANO5	NM_213599.3(ANO5):c.352del:p.Glu118fs	coding	Pathogenic/Likely_pathogenic
11	22227132	CTA	C	A22227136G	ANO5	NM_213599.3(ANO5):c.364-166_364-165del	noncoding	Benign
11	22227583	A	AAGGTAGAG	T22227585G	ANO5	NM_213599.3(ANO5):c.646_647insGGTAGAGA:p.Ile216delinsArgTer	coding	Pathogenic
11	22239579	GG	AA	G22239579A	ANO5	NM_213599.3(ANO5):c.773_774delinsAA:p.Trp258Ter	coding	Pathogenic
11	22250513	AC	A	C22250514A	ANO5	NM_213599.3(ANO5):c.1013+143del	noncoding	Benign
11	22255411	AC	A	C22255412T	ANO5	NM_213599.3(ANO5):c.1222del:p.Leu408fs	coding	Pathogenic
11	22259700	ATTTCT	A	C22259704A	ANO5	NM_213599.3(ANO5):c.1593_1597del:p.Phe531fs	coding	Pathogenic
11	22259948	G	GAA	G22259963A	ANO5	NM_213599.3(ANO5):c.1630+220_1630+221dup	noncoding	Benign
11	22259948	G	GA	G22259963A	ANO5	NM_213599.3(ANO5):c.1630+221dup	noncoding	Benign
11	22262109	A	AT	A22262119T	ANO5	NM_213599.3(ANO5):c.1631-11dup	noncoding	Benign
11	22270356	CTG	C	T22270357A	ANO5	NM_213599.3(ANO5):c.1944_1945del:p.Lys650fs	coding	Pathogenic
11	22272944	GCAAGA	G	A22272947T	ANO5	NM_213599.3(ANO5):c.2193_2197del:p.Gln731fs	coding	Pathogenic
11	22274548	CT	C	T22274559A	ANO5	NM_213599.3(ANO5):c.2236-10del	noncoding	Benign
11	22276060	AT	A	T22276072G	ANO5	NM_213599.3(ANO5):c.2415-22del	noncoding	Benign
11	22281521	GA	G	A22281527C	ANO5	NM_213599.3(ANO5):c.*1762del	noncoding	Benign/Likely_benign
11	22281654	TAAGA	T	A22281659G	ANO5	NM_213599.3(ANO5):c.*1890AAGA[1]	noncoding	Benign/Likely_benign
11	22283237	G	GT	C22283247T	ANO5	NM_213599.3(ANO5):c.*3481dup	noncoding	Benign/Likely_benign
11	22625215	TTC	T	C22625217G	FANCF	NM_022725.4(FANCF):c.594_595del:p.Asn199fs	coding	Pathogenic
11	22625276	TC	T	C22625280A	FANCF	NM_022725.4(FANCF):c.534del:p.Lys179fs	coding	Pathogenic
11	22625359	TAGCCATTGAAGCGC	T	C22625363A	FANCF	NM_022725.4(FANCF):c.438_451del:p.Leu146_Arg147insTer	coding	Pathogenic
11	22625484	G	GT	A22625486T	FANCF	NM_022725.4(FANCF):c.326dup:p.Tyr109Ter	coding	Pathogenic
11	22625526	CAG	C	A22625533C	FANCF	NM_022725.4(FANCF):c.283_284del:p.Leu95fs	coding	Pathogenic
11	22625786	C	CT	C22625787T	FANCF	NM_022725.4(FANCF):c.24_25insA:p.Asp9fs	coding	Pathogenic
11	22626135	T	TAGAAA	T22626141A	FANCF	Single_allele	noncoding	Benign
11	26332444	TA	T	A26332460T	ANO3	NM_031418.4(ANO3):c.46+139del	noncoding	Benign
11	26332444	T	TAAAA	T26332461A	ANO3	NM_031418.4(ANO3):c.46+136_46+139dup	noncoding	Benign
11	26332444	T	TA	T26332461A	ANO3	NM_031418.4(ANO3):c.46+139dup	noncoding	Benign
11	26443684	TTGTC	T	T26443685C	ANO3	NM_031418.4(ANO3):c.242-80_242-77del	noncoding	Benign
11	26462710	CATG	C	G26462716T	ANO3	NM_031418.4(ANO3):c.314-314_314-312del	noncoding	Benign
11	26516676	A	AT	A26516685T	ANO3	NM_031418.4(ANO3):c.592-143dup	noncoding	Benign
11	26525382	ATAAT	A	A26525384C	ANO3	NM_031418.4(ANO3):c.693-251_693-248del	noncoding	Benign
11	26525941	CAT	C	A26525942G	ANO3	NM_031418.4(ANO3):c.737+263_737+264del	noncoding	Benign
11	26530919	ATCTT	A	C26530921A	ANO3	NM_031418.4(ANO3):c.738-284_738-281del	noncoding	Benign
11	26541641	ATT	A	T26541642G	ANO3	NM_031418.4(ANO3):c.1033-305_1033-304del	noncoding	Benign
11	26547691	TTG	T	G26547693T	ANO3	NM_031418.4(ANO3):c.1289+143_1289+144del	noncoding	Benign
11	26547692	TG	T	G26547693T	ANO3	NM_031418.4(ANO3):c.1289+143del	noncoding	Benign
11	26553229	TG	T	G26553230T	ANO3	NM_031418.4(ANO3):c.1290-19del	noncoding	Benign
11	26553230	G	GT	G26553236T	ANO3	NM_031418.4(ANO3):c.1290-14dup	noncoding	Benign
11	26553230	GT	G	T26553235G	ANO3	NM_031418.4(ANO3):c.1290-14del	noncoding	Benign/Likely_benign
11	26553235	TG	T	G26553236T	ANO3	NM_031418.4(ANO3):c.1290-13del	noncoding	Benign
11	26553236	GT	G	T26553242C	ANO3	NM_031418.4(ANO3):c.1290-7del	noncoding	Benign
11	26559835	TACACACAC	T	A26559868C	ANO3	NM_031418.4(ANO3):c.1447+57AC[16]	coding	Benign
11	26559835	TACACAC	T	A26559870C	ANO3	NM_031418.4(ANO3):c.1447+57AC[17]	coding	Benign
11	26559835	TACAC	T	A26559872C	ANO3	NM_031418.4(ANO3):c.1447+57AC[18]	coding	Benign
11	26559835	TAC	T	A26559874C	ANO3	NM_031418.4(ANO3):c.1447+57AC[19]	coding	Benign
11	26559835	T	TAC	C26559876A	ANO3	NM_031418.4(ANO3):c.1447+57AC[21]	coding	Benign
11	26559851	C	CAT	C26559853T	ANO3	NM_031418.4(ANO3):c.1447+73_1447+74insTA	coding	Benign
11	26634080	C	CAAAA	T26634099A	ANO3	NM_031418.4(ANO3):c.1874-109_1874-106dup	noncoding	Benign
11	26634080	C	CAAA	T26634099A	ANO3	NM_031418.4(ANO3):c.1874-108_1874-106dup	noncoding	Benign
11	26634080	C	CAA	T26634099A	ANO3	NM_031418.4(ANO3):c.1874-107_1874-106dup	noncoding	Benign
11	26635339	CT	C	T26635348A	ANO3	NM_031418.4(ANO3):c.2043+278del	noncoding	Benign
11	26642048	C	CA	G26642050A	ANO3	NM_031418.4(ANO3):c.2275+20dup	noncoding	Benign
11	27340785	TCTGCTATTTCCTTTTTCTC	T	C27340789T	CCDC34	NM_030771.2(CCDC34):c.799_817del:p.Glu267fs	coding	Pathogenic
11	27341425	A	AT	C27341434T	CCDC34	NM_030771.2(CCDC34):c.731dup:p.Asn244fs	coding	Pathogenic
11	27659629	C	CTG	C27659650T	BDNF	NM_001709.5(BDNF):c.-21-1064CA[11]	coding	Benign
11	27659629	C	CTGTGTG	C27659650T	BDNF	NM_001709.5(BDNF):c.-21-1064CA[13]	coding	Benign
11	31789912	C	CT	A31789936T	PAX6	NM_001368894.2(PAX6):c.*21dup:p.Ter437=	noncoding	Benign
11	31789912	CT	C	T31789935A	PAX6	NM_001368894.2(PAX6):c.*21del:p.Ter437=	noncoding	Benign/Likely_benign
11	31789912	CTT	C	T31789934A	PAX6	NM_001368894.2(PAX6):c.*20_*21del:p.Ter437=	noncoding	Benign
11	31790260	GA	G	A31790270T	PAX6	NM_001368894.2(PAX6):c.1226-242del	noncoding	Benign
11	31790848	TG	T	G31790852A	PAX6	NM_001368894.2(PAX6):c.1086del:p.Ser363fs	coding	Pathogenic
11	31793450	GT	G	T31793452A	PAX6	NM_001368894.2(PAX6):c.1061del:p.Asn354fs	coding	Pathogenic
11	31793494	AG	A	G31793496T	PAX6	NM_001368894.2(PAX6):c.1017del:p.Tyr340fs	coding	Pathogenic
11	31793550	GA	G	A31793553C	PAX6	NM_001368894.2(PAX6):c.961del:p.Ser321fs	coding	Pathogenic
11	31793653	CG	C	G31793655T	PAX6	NM_001368894.2(PAX6):c.956del:p.Pro319fs	coding	Pathogenic
11	31793780	GC	G	C31793783T	PAX6	NM_001368894.2(PAX6):c.829del:p.Ala277fs	coding	Pathogenic
11	31794022	CTCTCGGTACCTGTAT	C	C31794026T	PAX6	NM_001368894.2(PAX6):c.802_807+9del	noncoding	Pathogenic
11	31794031	CCTGTATT	C	G31794034T	PAX6	NM_001368894.2(PAX6):c.801_807del:p.Ile268fs	noncoding	Pathogenic
11	31794032	CTGTATTCTTGCTTCAGG	C	G31794034A	PAX6	NM_001368894.2(PAX6):c.790_806del:p.Pro264fs	coding	Pathogenic
11	31794103	TTC	T	T31794108A	PAX6	NM_001368894.2(PAX6):c.734_735del:p.Arg245fs	coding	Pathogenic
11	31794420	CCACACACACACACACA	C	A31794464T	PAX6	NM_001368894.2(PAX6):c.724+152TG[21]	noncoding	Benign
11	31794420	CCACACACACACACACACA	C	A31794462T	PAX6	NM_001368894.2(PAX6):c.724+152TG[20]	noncoding	Benign
11	31794420	CCACACACACACACACACACA	C	A31794460T	PAX6	NM_001368894.2(PAX6):c.724+152TG[19]	noncoding	Benign
11	31794420	CCACACACACACACACACACACA	C	A31794458T	PAX6	NM_001368894.2(PAX6):c.724+152TG[18]	noncoding	Benign
11	31794420	CCACACACACACACACACACACACA	C	A31794456T	PAX6	NM_001368894.2(PAX6):c.724+152TG[17]	noncoding	Benign
11	31794615	GA	G	A31794620C	PAX6	NM_001368894.2(PAX6):c.724+14del	noncoding	Benign
11	31794633	TC	T	C31794634T	PAX6	NM_001368894.2(PAX6):c.720del:p.Glu242fs	coding	Pathogenic
11	31794663	AG	A	G31794665A	PAX6	NM_001368894.2(PAX6):c.690del:p.Phe231fs	coding	Pathogenic
11	31800714	G	GAAGTC	C31800720A	PAX6	NM_001368894.2(PAX6):c.537_541dup:p.Ser181Ter	coding	Pathogenic
11	31800772	TC	T	C31800774T	PAX6	NM_001368894.2(PAX6):c.483del:p.Met162fs	coding	Pathogenic
11	31800791	G	GCC	G31800794C	PAX6	NM_001368894.2(PAX6):c.463_464dup:p.Met156fs	coding	Pathogenic
11	31800838	CT	C	T31800839C	PAX6	NM_001368894.2(PAX6):c.417del:p.Val140fs	coding	Pathogenic
11	31801558	TACG	T	A31801559C	PAX6	NM_001368894.2(PAX6):c.399_399+2del	coding	Pathogenic
11	31801573	A	ATC	G31801576T	PAX6	NM_001368894.2(PAX6):c.385_386dup:p.Asp129fs	coding	Pathogenic
11	31801616	TC	T	C31801619A	PAX6	NM_001368894.2(PAX6):c.343del:p.Glu115fs	coding	Pathogenic
11	31801628	A	ATG	G31801631T	PAX6	NM_001368894.2(PAX6):c.330_331dup:p.Ile111fs	coding	Pathogenic
11	31801734	CG	C	G31801735T	PAX6	NM_001368894.2(PAX6):c.225del:p.Tyr74_Tyr75insTer	coding	Pathogenic
11	31802790	GC	G	C31802793G	PAX6	NM_001368894.2(PAX6):c.54del:p.Arg19fs	coding	Pathogenic
11	31802804	ACAC	GCTGATT	A31802804G	PAX6	NM_001368894.2(PAX6):c.38_41delinsAATCAGC:p.Gly13_Val14delinsGluSerAla	coding	Pathogenic
11	31803108	T	TC	A31803111C	PAX6	NM_001368894.2(PAX6):c.11-275dup	coding	Benign
11	31806913	TAA	T	A31806915G	PAX6	NM_001368894.2(PAX6):c.-118_-117del	noncoding	Pathogenic/Likely_pathogenic
11	32392972	T	TA	G32392988A	WT1	NM_024426.6(WT1):c.1265-218dup	noncoding	Benign
11	32396399	T	TCCCC	G32396401C	WT1	NM_024426.6(WT1):c.1121_1122insGGGG:p.Arg375fs	coding	Pathogenic
11	32396406	TC	T	C32396408T	WT1	NC_000011.9:g.32417953del	coding	Pathogenic
11	32428008	T	TG	T32428014G	WT1	NM_024426.6(WT1):c.834dup:p.Thr279fs	coding	Pathogenic
11	32428698	C	CG	T32428707G	WT1	NM_024426.6(WT1):c.662-80dup	noncoding	Benign
11	32430447	A	AGG	A32430449G	WT1	NM_024426.6(WT1):c.662-1829_662-1828insCC	noncoding	Benign
11	32430694	GC	G	C32430697G	WT1	NM_024426.6(WT1):c.662-2076del	coding	Benign
11	32434905	GC	G	C32434909A	WT1	NM_024426.6(WT1):c.455del:p.Gly152fs	coding	Pathogenic/Likely_pathogenic
11	32435042	A	ACTGCG	C32435049T	WT1	NM_024426.6(WT1):c.314_318dup:p.Trp107fs	coding	Pathogenic
11	32435084	CA	C	A32435085C	WT1	NM_024426.6(WT1):c.276del:p.Gly93fs	coding	Pathogenic
11	33717415	CG	C	G33717417C	CD59	NM_000611.6(CD59):c.123del:p.Val42fs	coding	Pathogenic
11	34090613	ACAAG	A	G34090617A	CAPRIN1	NM_005898.5(CAPRIN1):c.1493_1496del:p.Ser498fs	coding	Pathogenic
11	34449321	C	CGA	A34449330G	CAT	NM_001752.4(CAT):c.203_204dup:p.Ile69fs	coding	Pathogenic
11	34931387	CT	C	T34931394C	PDHX	NM_003477.3(PDHX):c.161-10del	noncoding	Benign
11	34931536	G	GT	G34931541T	PDHX	NM_003477.3(PDHX):c.241+56dup	noncoding	Benign
11	34931541	G	GT	C34931553T	PDHX	NM_003477.3(PDHX):c.241+68dup	noncoding	Benign
11	34947724	A	AT	A34947726T	PDHX	NM_003477.3(PDHX):c.342+119dup	noncoding	Benign
11	34957365	ACTT	A	C34957369T	PDHX	NM_003477.3(PDHX):c.343-15_343-13del	noncoding	Benign
11	34957729	GT	G	T34957740A	PDHX	NM_003477.3(PDHX):c.542+157del	noncoding	Benign
11	35418935	TA	T	A35418940T	SLC1A2	NM_004171.4(SLC1A2):c.17+14del	noncoding	Benign
11	36497274	T	TA	T36497282A	TRAF6	NM_004620.4(TRAF6):c.448-15dup	noncoding	Benign
11	36573440	CA	C	A36573444G	RAG1	NM_000448.3(RAG1):c.140del:p.Lys47fs	coding	Pathogenic/Likely_pathogenic
11	36573822	CT	C	T36573823G	RAG1	NM_000448.3(RAG1):c.519del:p.Glu174fs	coding	Pathogenic
11	36574914	TTATTGATGGGCTG	T	A36574916C	RAG1	NM_000448.3(RAG1):c.1612_1624del:p.Ile538fs	coding	Pathogenic
11	36575100	AG	A	G36575102A	RAG1	NM_000448.3(RAG1):c.1798del:p.Glu600fs	coding	Pathogenic
11	36575250	CT	C	T36575251A	RAG1	NM_000448.3(RAG1):c.1947del:p.Asn650fs	coding	Pathogenic
11	36575777	TC	T	C36575779A	RAG1	NM_000448.3(RAG1):c.2475del:p.Glu827fs	coding	Pathogenic
11	36576038	TAC	T	C36576040G	RAG1	NM_000448.3(RAG1):c.2736_2737del:p.Tyr912_Ser913delinsTer	coding	Pathogenic
11	36576376	C	CT	A36576379T	RAG1	NM_000448.3(RAG1):c.3074dup:p.Leu1025fs	coding	Pathogenic
11	36592762	CAGAT	C	A36592763G	RAG2	NM_000536.4(RAG2):c.1403_1406del:p.His468fs	coding	Pathogenic
11	36592764	G	GAT	G36592767A	RAG2	NM_000536.4(RAG2):c.1403_1404dup:p.Leu469fs	coding	Pathogenic
11	36592890	T	TATCC	C36592896T	RAG2	NM_000536.4(RAG2):c.1275_1278dup:p.Ile427fs	coding	Pathogenic
11	36593115	C	CA	G36593117A	RAG2	NM_000536.4(RAG2):c.1053dup:p.Glu352Ter	coding	Pathogenic
11	36593273	AT	A	T36593276C	RAG2	NM_000536.4(RAG2):c.895del:p.Ile299fs	coding	Pathogenic
11	36593305	GT	G	T36593307G	RAG2	NM_000536.4(RAG2):c.863del:p.Asn288fs	coding	Pathogenic
11	36593309	CA	C	A36593310G	RAG2	NM_000536.4(RAG2):c.859del:p.Cys287fs	coding	Pathogenic
11	36593339	T	TA	G36593341A	RAG2	NM_000536.4(RAG2):c.829dup:p.Tyr277fs	coding	Pathogenic
11	36593349	CAAT	C	T36593352C	RAG2	NM_000536.4(RAG2):c.817_819del:p.Ile273del	coding	Pathogenic
11	36593397	CAG	C	G36593401T	RAG2	NM_000536.4(RAG2):c.770_771del:p.Ser257fs	coding	Pathogenic
11	36593425	AT	A	T36593427C	RAG2	NM_000536.4(RAG2):c.743del:p.Asn248fs	coding	Pathogenic
11	36593444	A	AG	A36593449G	RAG2	NM_000536.4(RAG2):c.724dup:p.Leu242fs	coding	Pathogenic
11	36593444	AG	A	G36593448A	RAG2	NM_000536.4(RAG2):c.724del:p.Leu242fs	coding	Pathogenic
11	36593633	AG	A	G36593635C	RAG2	NM_000536.4(RAG2):c.535del:p.Leu179fs	coding	Pathogenic
11	36593810	AC	A	C36593812T	RAG2	NM_000536.4(RAG2):c.358del:p.Val120fs	coding	Pathogenic
11	36594111	AGAAGCCTGGCT	A	G36594115T	RAG2	NM_000536.4(RAG2):c.47_57del:p.Gln16fs	coding	Pathogenic
11	44107774	AGCACC	A	C44107776A	EXT2	NM_207122.2(EXT2):c.64_68del:p.His22fs	coding	Pathogenic
11	44107799	CT	C	T44107801C	EXT2	NM_207122.2(EXT2):c.89del:p.Phe30fs	coding	Pathogenic
11	44107950	C	CG	A44107957G	EXT2	NM_207122.2(EXT2):c.244dup:p.Asp82fs	coding	Pathogenic
11	44108108	ACTGCT	A	T44108110A	EXT2	NM_207122.2(EXT2):c.398_402del:p.Leu133fs	coding	Pathogenic
11	44108226	CA	C	A44108228G	EXT2	NM_207122.2(EXT2):c.516del:p.Ala173fs	coding	Pathogenic
11	44109187	TTGACAGGTGGGATCGAGGTACGAATCACC	T	A44109190T	EXT2	NM_207122.2(EXT2):c.537-4_561del	noncoding	Pathogenic
11	44109276	AGAGACAGGTAGGAGGCATATTTGGGGCTGTCCTTATGATGGGTTCAAGATCATTTTGTTCATGTGAAATTATATTCCTAAATCTACCACATACTTTGTAATCAGAATTGTTTATTAAACTAGAAAATTGTCATAAGTATTTTCCTCCTGAAGATTTAGAAGTGCT	A	G44109277T	EXT2	NM_207122.2(EXT2):c.620_626+158del	coding	Pathogenic
11	44114261	CCA	C	A44114263T	EXT2	NM_207122.2(EXT2):c.705_706del:p.Leu236fs	coding	Pathogenic
11	44114284	TC	T	C44114286A	EXT2	NM_207122.2(EXT2):c.728del:p.Pro243fs	coding	Pathogenic
11	44114286	CA	C	A44114287G	EXT2	NM_207122.2(EXT2):c.729del:p.Glu244fs	coding	Pathogenic
11	44124706	C	CG	A44124707G	EXT2	NM_207122.2(EXT2):c.744-83_744-82insG	noncoding	Benign
11	44124793	CG	C	G44124795C	EXT2	NM_207122.2(EXT2):c.750del:p.Gln251fs	coding	Pathogenic
11	44124821	TG	T	G44124824T	EXT2	NM_207122.2(EXT2):c.779del:p.Gly260fs	coding	Pathogenic
11	44124827	TCC	T	C44124828A	EXT2	NM_207122.2(EXT2):c.783_784del:p.His262fs	coding	Pathogenic
11	44124983	AG	A	G44124985T	EXT2	NM_207122.2(EXT2):c.939+1del	coding	Pathogenic
11	44126879	T	TA	T44126880A	EXT2	NM_207122.2(EXT2):c.1003_1004insA:p.Leu335fs	coding	Pathogenic
11	44126887	TG	T	G44126889C	EXT2	NM_207122.2(EXT2):c.1013del:p.Gly338fs	coding	Pathogenic
11	44130042	CA	C	A44130043G	EXT2	NM_207122.2(EXT2):c.1080-2del	noncoding	Pathogenic
11	44171631	GT	G	T44171632A	EXT2	NM_207122.2(EXT2):c.1195del:p.Tyr399fs	coding	Pathogenic
11	44171636	TC	T	C44171638A	EXT2	NM_207122.2(EXT2):c.1201del:p.Gln401fs	coding	Pathogenic
11	44206873	T	TA	T44206875A	EXT2	NM_207122.2(EXT2):c.1577dup:p.Tyr526Ter	coding	Pathogenic
11	45804038	TC	T	C45804043T	SLC35C1	Single_allele	noncoding	Benign
11	45910876	TCG	T	C45910879T	PEX16	NM_004813.4(PEX16):c.952+20_952+21del	noncoding	Benign
11	45910964	T	TG	A45910970G	PEX16	NM_004813.4(PEX16):c.888-3dup	noncoding	Benign
11	45914315	CAG	C	A45914316T	PEX16	NM_004813.4(PEX16):c.693_694del:p.Leu232fs	noncoding	Pathogenic
11	45915481	C	CT	G45915483T	PEX16	NM_004813.4(PEX16):c.446dup:p.Ala150fs	coding	Pathogenic
11	45915689	CA	C	A45915691T	PEX16	NM_004813.4(PEX16):c.359+13del	noncoding	Benign
11	45916417	CTA	C	A45916419G	PEX16	NM_004813.4(PEX16):c.149-116_149-115del	noncoding	Benign
11	45917740	CTGGGCCG	C	G45917744C	PEX16	NM_004813.4(PEX16):c.65_71del:p.Thr22fs	coding	Pathogenic
11	45938208	A	AG	T45938215G	PHF21A	NM_001352027.3(PHF21A):c.1556dup:p.Leu520fs	coding	Pathogenic
11	45950225	TAC	T	A45950226C	PHF21A	NM_001352027.3(PHF21A):c.1126_1127del:p.Val376fs	coding	Pathogenic
11	45950245	TGAAGGCAA	T	A45950247T	PHF21A	NM_001352027.3(PHF21A):c.1100_1107del:p.Leu367fs	coding	Pathogenic
11	45965487	AGGGTTGTG	A	T45965491G	PHF21A	NM_001352027.3(PHF21A):c.816_823del:p.Thr273fs	coding	Pathogenic
11	46310255	T	TTTTG	T46310283G	CREB3L1	NM_052854.4(CREB3L1):c.595+189TTTG[7]	noncoding	Benign
11	46366380	GCCT	G	C46366388A	DGKZ	NM_001199267.2(DGKZ):c.162-910CCT[2]	coding	Benign
11	46367274	TGTC	T	G46367275T	DGKZ	NM_001199267.2(DGKZ):c.162-16_162-14del	noncoding	Benign
11	46372900	AG	A	G46372906T	DGKZ	NM_001199267.2(DGKZ):c.1182+22del	noncoding	Benign
11	46379241	GTATC	G	A46379243G	DGKZ	NM_001199267.2(DGKZ):c.2570+7_2570+10del	noncoding	Benign
11	46876287	CTT	C	T46876290A	LRP4	NM_002334.4(LRP4):c.3536+177_3536+178del	noncoding	Benign
11	46876882	CA	C	A46876883C	LRP4	NM_002334.4(LRP4):c.3278-53del	noncoding	Benign
11	46881666	GTGCCACCCTTACCTTCCTCTTAC	G	C46881695T	LRP4	NM_002334.4(LRP4):c.2814+13_2814+35del	noncoding	Benign/Likely_benign
11	46881717	A	ACCCTTACCTTCCTCTTACTGCCACCCTTACCTTCC	T46881718C	LRP4	NM_002334.4(LRP4):c.2798_2799insGGAAGGTAAGGGTGGCAGTAAGAGGAAGGTAAGGG:p.Asp933fs	coding	Pathogenic
11	46889545	G	GC	A46889549C	LRP4	NM_002334.4(LRP4):c.2093-15dup	noncoding	Benign
11	46895074	C	CTACCT	C46895080T	LRP4	NM_002334.4(LRP4):c.1309+87_1309+91dup	noncoding	Benign
11	47214602	AAG	A	G47214618A	DDB2	Single_allele	noncoding	Benign
11	47331512	CT	C	T47331516A	MYBPC3	NM_000256.3(MYBPC3):c.*230del	noncoding	Benign/Likely_benign
11	47332139	GC	G	C47332144G	MYBPC3	NM_000256.3(MYBPC3):c.3746del:p.Gly1249fs	coding	Pathogenic
11	47332182	ACT	A	T47332184C	MYBPC3	NM_000256.3(MYBPC3):c.3702_3703del:p.Leu1236fs	coding	Pathogenic
11	47332194	C	CTGAA	C47332199T	MYBPC3	NM_000256.3(MYBPC3):c.3688_3691dup:p.Ser1231fs	coding	Pathogenic
11	47332223	CA	C	A47332224G	MYBPC3	NM_000256.3(MYBPC3):c.3662del:p.Leu1221fs	coding	Pathogenic/Likely_pathogenic
11	47332581	G	GACAGC	G47332593C	MYBPC3	NM_000256.3(MYBPC3):c.3607_3611dup:p.Arg1205fs	coding	Pathogenic
11	47332934	A	AT	G47332935T	MYBPC3	NM_000256.3(MYBPC3):c.3369_3370insA:p.Cys1124fs	coding	Pathogenic
11	47332968	C	CCACT	C47332974A	MYBPC3	NM_000256.3(MYBPC3):c.3332_3335dup:p.Trp1112Ter	coding	Pathogenic/Likely_pathogenic
11	47333195	AT	A	T47333196G	MYBPC3	NM_000256.3(MYBPC3):c.3328del:p.Met1110fs	coding	Pathogenic
11	47333195	ATGGTCTTCTTGTCGGCTTTC	A	G47333198C	MYBPC3	NM_000256.3(MYBPC3):c.3309_3328del:p.Gln1103fs	coding	Pathogenic
11	47333210	G	GCC	T47333212C	MYBPC3	NM_000256.3(MYBPC3):c.3313_3314insGG:p.Ala1105fs	coding	Pathogenic
11	47333215	CTGCACTG	C	C47333218T	MYBPC3	NM_000256.3(MYBPC3):c.3302_3308del:p.Thr1101fs	coding	Pathogenic
11	47333221	TG	T	G47333222T	MYBPC3	NM_000256.3(MYBPC3):c.3302del:p.Thr1101fs	coding	Pathogenic
11	47333235	GC	G	C47333236T	MYBPC3	NM_000256.3(MYBPC3):c.3288del:p.Glu1096fs	coding	Pathogenic
11	47333244	TGCCGACA	GTGTACCCCCAGAGT	T47333244G	MYBPC3	NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC:p.Asp1091fs	coding	Pathogenic
11	47333265	T	TCC	A47333268C	MYBPC3	NM_000256.3(MYBPC3):c.3257_3258dup:p.Lys1087fs	coding	Pathogenic
11	47333281	A	AT	A47333284T	MYBPC3	NM_000256.3(MYBPC3):c.3242dup:p.Asn1081fs	coding	Pathogenic
11	47333283	T	TA	G47333286A	MYBPC3	NM_000256.3(MYBPC3):c.3240dup:p.Asn1081Ter	coding	Pathogenic
11	47333292	A	AG	C47333295G	MYBPC3	NM_000256.3(MYBPC3):c.3231dup:p.Trp1078fs	coding	Pathogenic
11	47333308	G	GC	A47333309C	MYBPC3	NM_000256.3(MYBPC3):c.3215_3216insG:p.Arg1073fs	coding	Pathogenic
11	47333622	GT	G	T47333623G	MYBPC3	NM_000256.3(MYBPC3):c.3124del:p.Thr1042fs	coding	Pathogenic
11	47333736	TGA	T	A47333738G	MYBPC3	NM_000256.3(MYBPC3):c.3009_3010del:p.Gln1004fs	coding	Pathogenic/Likely_pathogenic
11	47333925	GA	G	A47333928G	MYBPC3	NM_000256.3(MYBPC3):c.2990del:p.Phe997fs	coding	Pathogenic
11	47333935	AG	A	G47333936A	MYBPC3	NM_000256.3(MYBPC3):c.2980del:p.Leu994fs	coding	Pathogenic
11	47335089	C	CCCAGGCCCTGCCATATTGTGTGCCCGCACTCGGAAAAGCAGCCGGGCCCCCGTGGGCAGGTCCTTCACCAGTATCGATGTGTGCTCTGTCAGCCCCTG	A47335091C	MYBPC3	NM_000256.3(MYBPC3):c.2857_2858insCAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGG:p.Gly953fs	coding	Pathogenic
11	47335103	ATT	A	T47335104G	MYBPC3	NM_000256.3(MYBPC3):c.2842_2843del:p.Asn948fs	coding	Pathogenic
11	47335134	GC	G	C47335139G	MYBPC3	NM_000256.3(MYBPC3):c.2812del:p.Ala938fs	coding	Pathogenic
11	47335139	CG	C	G47335140T	MYBPC3	NM_000256.3(MYBPC3):c.2807del:p.Thr936fs	coding	Pathogenic
11	47335179	AG	A	G47335180C	MYBPC3	NM_000256.3(MYBPC3):c.2767del:p.Gly922_Leu923insTer	coding	Pathogenic/Likely_pathogenic
11	47335197	AC	A	C47335200A	MYBPC3	NM_000256.3(MYBPC3):c.2749del:p.Val917fs	coding	Pathogenic
11	47335208	GC	G	C47335210T	MYBPC3	NC_000011.9:g.47356760del	coding	Pathogenic
11	47335971	G	GACGT	C47335976A	MYBPC3	NM_000256.3(MYBPC3):c.2639_2642dup:p.Ser882fs	coding	Pathogenic
11	47336001	GCTGGGGGGAC	G	G47336007C	MYBPC3	NC_000011.9:g.47357553_47357562del	coding	Pathogenic
11	47337402	A	AAGGGCTGGGAGGC	C47337425A	MYBPC3	NM_000256.3(MYBPC3):c.2578_2590dup:p.Phe864fs	coding	Pathogenic
11	47337466	CG	C	G47337467T	MYBPC3	NM_000256.3(MYBPC3):c.2526del:p.Val841_Tyr842insTer	coding	Pathogenic/Likely_pathogenic
11	47337480	T	TC	G47337482C	MYBPC3	NM_000256.3(MYBPC3):c.2512dup:p.Glu838fs	coding	Pathogenic
11	47337489	CG	C	G47337490C	MYBPC3	NM_000256.3(MYBPC3):c.2503del:p.Arg835fs	coding	Pathogenic
11	47337491	CCG	C	G47337495T	MYBPC3	NM_000256.3(MYBPC3):c.2500_2501del:p.Arg834fs	coding	Pathogenic
11	47337768	TG	T	G47337773C	MYBPC3	NM_000256.3(MYBPC3):c.2334del:p.Lys779fs	coding	Pathogenic/Likely_pathogenic
11	47337768	T	TG	C47337774G	MYBPC3	NM_000256.3(MYBPC3):c.2334dup:p.Lys779fs	coding	Pathogenic
11	47337913	CAA	C	A47337915G	MYBPC3	NM_000256.3(MYBPC3):c.2309-121_2309-120del	noncoding	Benign
11	47337952	C	CT	A47337972T	MYBPC3	NM_000256.3(MYBPC3):c.2309-177dup	noncoding	Benign
11	47337952	CT	C	T47337971A	MYBPC3	NM_000256.3(MYBPC3):c.2309-159del	noncoding	Benign
11	47338577	C	CCTA	G47338579T	MYBPC3	NM_000256.3(MYBPC3):c.2250_2251insTAG:p.Val751Ter	coding	Pathogenic
11	47338606	G	GC	T47338612C	MYBPC3	NM_000256.3(MYBPC3):c.2221dup:p.Ala741fs	coding	Pathogenic
11	47339385	CTGGCT	C	T47339386G	MYBPC3	NM_000256.3(MYBPC3):c.2082_2086del:p.Arg696fs	coding	Pathogenic
11	47339399	ATT	A	T47339400C	MYBPC3	NM_000256.3(MYBPC3):c.2071_2072del:p.Gly690_Asn691insTer	coding	Pathogenic
11	47339702	AG	A	G47339705A	MYBPC3	NM_000256.3(MYBPC3):c.2015del:p.Pro672fs	coding	Pathogenic
11	47339705	G	GCC	A47339706C	MYBPC3	NM_000256.3(MYBPC3):c.2012_2013insGG:p.Pro672fs	coding	Pathogenic
11	47339747	GTCTGGTATGCG	A	G47339747A	MYBPC3	NM_000256.3(MYBPC3):c.1960_1971delinsT:p.Arg654fs	coding	Pathogenic
11	47339767	AG	A	G47339768T	MYBPC3	NM_000256.3(MYBPC3):c.1950del:p.Cys651fs	coding	Pathogenic
11	47341029	AC	A	C47341031T	MYBPC3	NM_000256.3(MYBPC3):c.1900del:p.Val634fs	coding	Pathogenic
11	47341195	AG	A	G47341196T	MYBPC3	NM_000256.3(MYBPC3):c.1839del:p.Tyr614fs	coding	Pathogenic
11	47341212	GGT	G	T47341216A	MYBPC3	NM_000256.3(MYBPC3):c.1821_1822del:p.Pro608fs	coding	Pathogenic
11	47342003	GA	G	A47342004C	MYBPC3	NM_000256.3(MYBPC3):c.1777del:p.Ser593fs	coding	Pathogenic
11	47342563	C	CT	C47342564T	MYBPC3	NM_000256.3(MYBPC3):c.1624+14_1624+15insA	noncoding	Benign/Likely_benign
11	47342606	GC	A	G47342606A	MYBPC3	NM_000256.3(MYBPC3):c.1595_1596delinsT:p.Gly532fs	coding	Pathogenic
11	47342621	CAGTGCAT	C	A47342627C	MYBPC3	NM_000256.3(MYBPC3):c.1574_1580del:p.Tyr525fs	coding	Pathogenic/Likely_pathogenic
11	47342670	TG	T	G47342672T	MYBPC3	NM_000256.3(MYBPC3):c.1531del:p.His511fs	coding	Pathogenic
11	47342685	TC	T	C47342687T	MYBPC3	NM_000256.3(MYBPC3):c.1516del:p.Asp506fs	coding	Pathogenic
11	47342697	CG	C	G47342699T	MYBPC3	NM_000256.3(MYBPC3):c.1504del:p.Arg502fs	coding	Pathogenic/Likely_pathogenic
11	47342912	GGCGCGTGATGA	G	G47342915A	MYBPC3	NM_000256.3(MYBPC3):c.1364_1374del:p.Leu455fs	coding	Pathogenic
11	47342933	GC	G	C47342934T	MYBPC3	NM_000256.3(MYBPC3):c.1353del:p.Glu451fs	coding	Pathogenic
11	47343021	CT	C	T47343024C	MYBPC3	NM_000256.3(MYBPC3):c.1350del:p.Glu451fs	coding	Pathogenic
11	47343055	AC	A	C47343058A	MYBPC3	NM_000256.3(MYBPC3):c.1316del:p.Gly439fs	coding	Pathogenic
11	47343089	AATGAGCACTGGCTG	A	A47343093G	MYBPC3	NM_000256.3(MYBPC3):c.1269_1282del:p.Ser424fs	coding	Pathogenic
11	47343520	TC	T	C47343521T	MYBPC3	NM_000256.3(MYBPC3):c.1194del:p.Asn399fs	coding	Pathogenic
11	47346247	CTT	C	T47346249A	MYBPC3	NM_000256.3(MYBPC3):c.1048_1049del:p.Lys350fs	coding	Pathogenic
11	47347439	GTGAGC	G	G47347443A	MYBPC3	NM_000256.3(MYBPC3):c.887_891del:p.Ser296fs	coding	Pathogenic
11	47348471	GACACCTC	G	C47348475G	MYBPC3	NM_000256.3(MYBPC3):c.718_724del:p.Glu240fs	coding	Pathogenic
11	47348507	TG	T	G47348510C	MYBPC3	NM_000256.3(MYBPC3):c.688del:p.Gln230fs	coding	Pathogenic
11	47348559	CG	C	G47348563C	MYBPC3	NM_000256.3(MYBPC3):c.655-19del	noncoding	Benign
11	47349775	T	GGGTCACCAGC	T47349775G	MYBPC3	NM_000256.3(MYBPC3):c.653delinsGCTGGTGACCC:p.Lys218delinsSerTrpTer	coding	Pathogenic
11	47349862	AC	A	C47349864A	MYBPC3	NM_000256.3(MYBPC3):c.565del:p.Val189fs	coding	Pathogenic
11	47349887	CGCCG	C	G47349891A	MYBPC3	NM_000256.3(MYBPC3):c.537_540del:p.Gly180fs	coding	Pathogenic
11	47349895	ACGCGG	A	C47349896G	MYBPC3	NM_000256.3(MYBPC3):c.528_532del:p.Arg177fs	coding	Pathogenic
11	47349913	A	AT	G47349915T	MYBPC3	NM_000256.3(MYBPC3):c.514dup:p.Ile172fs	coding	Pathogenic
11	47349931	GC	AA	G47349931A	MYBPC3	NM_000256.3(MYBPC3):c.506-10_506-9delinsTT	noncoding	Benign
11	47349968	G	GC	T47349976C	MYBPC3	NM_000256.3(MYBPC3):c.505+39dup	noncoding	Benign/Likely_benign
11	47350110	AC	A	C47350113T	MYBPC3	NC_000011.9:g.47371662del	coding	Pathogenic
11	47350502	CT	C	T47350505G	MYBPC3	NM_000256.3(MYBPC3):c.405del:p.Ser137fs	coding	Pathogenic
11	47350528	A	AG	C47350530G	MYBPC3	NM_000256.3(MYBPC3):c.379dup:p.Leu127fs	coding	Pathogenic
11	47350589	CA	C	A47350590G	MYBPC3	NM_000256.3(MYBPC3):c.318del:p.Ala107fs	coding	Pathogenic
11	47351300	TC	T	C47351303T	MYBPC3	NM_000256.3(MYBPC3):c.230del:p.Gly77fs	coding	Pathogenic
11	47351415	TTCAC	T	A47351418C	MYBPC3	NM_000256.3(MYBPC3):c.112_115del:p.Val38fs	coding	Pathogenic
11	47352696	A	AG	A47352700G	MYBPC3	NM_000256.3(MYBPC3):c.-50dup	noncoding	Benign
11	47352870	TC	T	C47352876T	MYBPC3	Single_allele	noncoding	Benign
11	47355345	AGC	A	G47355354C	SPI1	NM_003120.3(SPI1):c.693_694del:p.Leu232fs	coding	Pathogenic
11	47412411	ACCTTCCTGG	A	C47412413G	SLC39A13	NM_001128225.3(SLC39A13):c.483_491del:p.Phe162_Ala164del	coding	Pathogenic
11	47412669	A	AGG	C47412670G	SLC39A13	NM_001128225.3(SLC39A13):c.537+202_537+203insGG	noncoding	Benign
11	47412670	C	CTACCAGGT	A47412671T	SLC39A13	NM_001128225.3(SLC39A13):c.537+203_537+204insTACCAGGT	noncoding	Benign
11	47438028	TC	T	C47438031G	RAPSN	NM_005055.5(RAPSN):c.1185del:p.Thr396fs	coding	Pathogenic
11	47438712	AC	A	C47438719A	RAPSN	NM_005055.5(RAPSN):c.1166+19del	noncoding	Benign
11	47442797	CAG	C	A47442798G	RAPSN	NM_005055.5(RAPSN):c.547_548del:p.Leu183fs	coding	Pathogenic
11	47442798	A	AGG	C47442802G	RAPSN	NM_005055.5(RAPSN):c.546_547dup:p.Leu183fs	coding	Pathogenic
11	47448023	TTGCAGTAGGAGATGGTCTTG	T	C47448026A	RAPSN	NM_005055.5(RAPSN):c.300_319del:p.His100fs	coding	Pathogenic
11	47448045	GA	G	A47448048C	RAPSN	NM_005055.5(RAPSN):c.297del:p.His100fs	coding	Pathogenic
11	47448132	CG	C	G47448133A	RAPSN	NM_005055.5(RAPSN):c.210del:p.Ile70fs	coding	Pathogenic
11	47448918	A	AG	C47448920G	RAPSN	NM_005055.5(RAPSN):c.46dup:p.Leu16fs	coding	Pathogenic
11	47581159	A	AT	A47581174T	NDUFS3	NM_004551.3(NDUFS3):c.381+189dup	noncoding	Benign
11	47581159	AT	A	T47581173A	NDUFS3	NM_004551.3(NDUFS3):c.381+189del	noncoding	Benign
11	47582175	GTC	G	C47582179G	NDUFS3	NM_004551.3(NDUFS3):c.473_474del:p.Ser158fs	coding	Pathogenic
11	47584679	GT	G	T47584696G	NDUFS3	Single_allele	noncoding	Benign
11	47705641	C	CAA	G47705658A	AGBL2	NM_024783.4(AGBL2):c.287-23_287-22dup	noncoding	Benign/Likely_benign
11	47779164	CCT	C	T47779166C	NUP160	NM_015231.3(NUP160):c.4148_4149del:p.Glu1383fs	coding	Pathogenic
11	47835823	T	TAG	T47835826A	NUP160	NM_015231.3(NUP160):c.841-16_841-15dup	noncoding	Benign
11	57599898	CA	C	A57599901T	SERPING1	NM_000062.3(SERPING1):c.74del:p.Asn25fs	coding	Pathogenic
11	57599998	ACCCATCCTGG	A	C57599999A	SERPING1	NM_000062.3(SERPING1):c.172_181del:p.Pro58fs	coding	Pathogenic
11	57600022	G	GC	G57600025C	SERPING1	NM_000062.3(SERPING1):c.197dup:p.Thr67fs	coding	Pathogenic
11	57600055	CA	C	A57600059T	SERPING1	NM_000062.3(SERPING1):c.232del:p.Lys77_Ile78insTer	coding	Pathogenic
11	57600105	A	AG	C57600107G	SERPING1	NM_000062.3(SERPING1):c.279dup:p.Pro94fs	coding	Benign/Likely_benign
11	57600126	TCCAACCCACCCAA	T	C57600132T	SERPING1	NM_000062.3(SERPING1):c.305_317del:p.Pro102fs	coding	Pathogenic
11	57600157	A	AC	A57600158C	SERPING1	NM_000062.3(SERPING1):c.330_331insC:p.Thr111fs	coding	Pathogenic
11	57602106	C	CA	G57602108A	SERPING1	NM_000062.3(SERPING1):c.623dup:p.Ala209fs	coding	Pathogenic
11	57602116	A	AG	C57602120G	SERPING1	NM_000062.3(SERPING1):c.635dup:p.Phe213fs	coding	Pathogenic
11	57602154	ATCT	A	T57602157C	SERPING1	NM_000062.3(SERPING1):c.673_675del:p.Phe225del	coding	Pathogenic
11	57606054	T	TAC	G57606058C	SERPING1	NM_000062.3(SERPING1):c.732_733dup:p.Ser245fs	coding	Pathogenic
11	57606056	C	CAGCA	G57606061A	SERPING1	NM_000062.3(SERPING1):c.733_736dup:p.Ser246fs	coding	Pathogenic
11	57606071	AGT	A	G57606072C	SERPING1	NM_000062.3(SERPING1):c.748_749del:p.Val250fs	coding	Pathogenic
11	57606102	G	GA	G57606104A	SERPING1	NM_000062.3(SERPING1):c.779dup:p.Leu261fs	coding	Pathogenic
11	57606108	A	AT	C57606110T	SERPING1	NM_000062.3(SERPING1):c.785dup:p.Asn263fs	coding	Pathogenic
11	57606459	A	ATC	C57606460T	SERPING1	NM_000062.3(SERPING1):c.941_942insTC:p.Phe315fs	coding	Pathogenic
11	57606468	A	AC	T57606470C	SERPING1	NM_000062.3(SERPING1):c.951dup:p.Ser318fs	coding	Pathogenic
11	57606501	AG	C	A57606501C	SERPING1	NM_000062.3(SERPING1):c.983_984delinsC:p.Lys328fs	coding	Pathogenic
11	57606511	TG	T	G57606512T	SERPING1	NM_000062.3(SERPING1):c.994del:p.Val332fs	coding	Pathogenic
11	57606527	GACCAA	G	C57606530T	SERPING1	NM_000062.3(SERPING1):c.1012_1016del:p.Gln338fs	coding	Pathogenic
11	57606534	CT	C	T57606537G	SERPING1	NM_000062.3(SERPING1):c.1019del:p.Thr339_Leu340insTer	coding	Pathogenic
11	57611735	TC	T	C57611738A	SERPING1	NM_000062.3(SERPING1):c.1051del:p.His351fs	coding	Pathogenic
11	57611757	TC	T	C57611759T	SERPING1	NM_000062.3(SERPING1):c.1072del:p.Leu358fs	coding	Pathogenic
11	57611780	C	CA	T57611782A	SERPING1	NM_000062.3(SERPING1):c.1094dup:p.His365fs	coding	Pathogenic
11	57611871	TC	T	C57611873T	SERPING1	NM_000062.3(SERPING1):c.1186del:p.Leu395_Leu396insTer	coding	Pathogenic
11	57614383	TC	T	C57614384T	SERPING1	NM_000062.3(SERPING1):c.1306del:p.Leu436fs	coding	Pathogenic
11	57614435	GGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGT	G	G57614438C	SERPING1	NM_000062.3(SERPING1):c.1360_1393del:p.Val454fs	coding	Pathogenic
11	57614438	GT	G	T57614439G	SERPING1	NM_000062.3(SERPING1):c.1361del:p.Val454fs	coding	Pathogenic
11	57805911	GA	G	A57805913C	CTNND1	NM_001085458.2(CTNND1):c.1754del:p.Asn585fs	coding	Pathogenic
11	59149245	AT	A	T59149255C	FAM111A	NM_001312909.2(FAM111A):c.81+302del	noncoding	Benign
11	59153703	A	ATTTTTT	G59153720T	FAM111A	NM_001312909.2(FAM111A):c.*210_*215dup	noncoding	Benign
11	59787096	ACT	A	C59787099A	STX3	NM_004177.5(STX3):c.177_178del:p.Tyr60fs	coding	Pathogenic
11	59792112	TGTC	GA	T59792112G	STX3	NM_004177.5(STX3):c.363_366delinsGA:p.Val122fs	coding	Pathogenic
11	59792118	T	TTC	G59792123T	STX3	NM_004177.5(STX3):c.372_373dup:p.Arg125fs	coding	Pathogenic
11	59831479	TTA	T	T59831498C	CBLIF	NM_005142.3(CBLIF):c.1192+179TA[9]	noncoding	Benign
11	59831479	T	TTA	C59831500T	CBLIF	NM_005142.3(CBLIF):c.1192+179TA[11]	noncoding	Benign
11	59859004	TA	T	A59859017T	TCN1	NM_001062.4(TCN1):c.747+72del	noncoding	Benign
11	60464350	TA	GACATATGGTT	T60464350G	MS4A1	NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT	noncoding	Pathogenic
11	61364472	TC	T	C61364473A	TMEM138	NM_016464.5(TMEM138):c.83del:p.Phe27_Ser28insTer	coding	Pathogenic
11	61393268	CT	C	T61393271C	TMEM216	NM_001173990.3(TMEM216):c.75del:p.Phe25_Leu26insTer	coding	Pathogenic
11	61393311	CTT	C	T61393314C	TMEM216	NM_001173990.3(TMEM216):c.118_119del:p.Phe40fs	coding	Pathogenic
11	61393937	CT	C	T61393938C	TMEM216	NM_001173990.3(TMEM216):c.191del:p.Leu64fs	coding	Pathogenic
11	61397917	C	CA	T61397918A	TMEM216	NM_001173990.3(TMEM216):c.373_374insA:p.Leu125fs	coding	Pathogenic
11	61429988	GC	G	C61429996G	SDHAF2	Single_allele	noncoding	Benign
11	61430172	CT	C	T61430174C	SDHAF2	NM_017841.4(SDHAF2):c.28del:p.Ser10fs	coding	Pathogenic
11	61437711	AG	A	G61437712A	SDHAF2	NM_017841.4(SDHAF2):c.124del:p.Asp42fs	coding	Pathogenic
11	61437776	T	TA	G61437778A	SDHAF2	NM_017841.4(SDHAF2):c.189dup:p.Glu64fs	coding	Pathogenic
11	61437814	AAG	A	A61437817G	SDHAF2	NM_017841.4(SDHAF2):c.229_230del:p.Arg77fs	coding	Pathogenic
11	61437865	C	CT	A61437875T	SDHAF2	NM_017841.4(SDHAF2):c.260+26dup	noncoding	Benign
11	61437865	C	CTT	A61437875T	SDHAF2	NM_017841.4(SDHAF2):c.260+25_260+26dup	noncoding	Benign
11	61437865	CT	C	T61437874A	SDHAF2	NM_017841.4(SDHAF2):c.260+26del	noncoding	Benign
11	61438005	C	CT	G61438011T	SDHAF2	NM_017841.4(SDHAF2):c.267dup:p.Ala90fs	coding	Pathogenic
11	61438005	CT	C	T61438010G	SDHAF2	NM_017841.4(SDHAF2):c.267del:p.Phe89fs	coding	Pathogenic
11	61438204	C	CT	G61438217T	SDHAF2	NM_017841.4(SDHAF2):c.370+103dup	noncoding	Benign
11	61766167	CG	C	G61766173C	MYRF	NM_001127392.3(MYRF):c.350del:p.Gly117fs	coding	Pathogenic
11	61769286	CG	C	G61769289C	MYRF	NM_001127392.3(MYRF):c.428del:p.Gly143fs	coding	Pathogenic
11	61771540	TC	T	C61771548A	MYRF	NM_001127392.3(MYRF):c.789del:p.Ser264fs	coding	Pathogenic
11	61951924	C	CT	G61951926T	BEST1	NM_004183.4(BEST1):c.119dup:p.Leu41fs	coding	Pathogenic
11	61955208	TC	T	C61955213T	BEST1	NM_004183.4(BEST1):c.247+12del	noncoding	Benign
11	61956941	G	GCATT	A61956942C	BEST1	NM_004183.4(BEST1):c.579_580insCATT:p.Lys194delinsHisTer	coding	Pathogenic
11	61956980	GC	AA	G61956980A	BEST1	NM_004183.4(BEST1):c.618_619delinsAA:p.Leu207Ile	coding	Benign
11	61957530	TGGG	T	G61957532T	BEST1	NM_004183.4(BEST1):c.714+68_714+70del	noncoding	Benign
11	61957533	G	GCACCTA	G61957534C	BEST1	NM_004183.4(BEST1):c.714+69_714+70insCACCTA	noncoding	Benign
11	61957972	T	TCAAACAAA	G61958001C	BEST1	NM_004183.4(BEST1):c.715-173CAAA[9]	noncoding	Benign
11	61957972	T	TCAAA	G61958001C	BEST1	NM_004183.4(BEST1):c.715-173CAAA[8]	noncoding	Benign
11	61958128	T	TTCCTCCTCC	C61958129T	BEST1	NM_004183.4(BEST1):c.715-18_715-17insTCCTCCTCC	noncoding	Benign
11	61958134	T	TTCCTCCTCC	C61958135T	BEST1	NM_004183.4(BEST1):c.715-12_715-11insTCCTCCTCC	noncoding	Benign
11	61958153	CTG	C	T61958156G	BEST1	NM_004183.4(BEST1):c.725_726del:p.Val242fs	coding	Pathogenic
11	61962465	GGGCCAGGAAGACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCCACTGTATCAGA	G	A61962473C	BEST1	NM_004183.4(BEST1):c.1319_1388del:p.Glu440fs	coding	Pathogenic
11	61962568	CT	C	T61962569C	BEST1	NM_004183.4(BEST1):c.1415del:p.Leu472fs	coding	Pathogenic/Likely_pathogenic
11	61962597	AG	A	G61962598A	BEST1	NM_004183.4(BEST1):c.1444del:p.Glu482fs	coding	Pathogenic/Likely_pathogenic
11	61962684	GAA	G	A61962687G	BEST1	NM_004183.4(BEST1):c.1533_1534del:p.Ser512fs	coding	Pathogenic
11	61963852	C	CAA	T61963856A	BEST1	NM_004183.4(BEST1):c.1740-250_1740-249dup	noncoding	Benign
11	61963990	CA	C	A61964006G	BEST1	NM_004183.4(BEST1):c.1740-98del	noncoding	Benign
11	61963990	C	CA	G61964007A	BEST1	NM_004183.4(BEST1):c.1740-98dup	noncoding	Benign
11	61965339	A	AGTATGAC	A61965347G	FTH1	NM_002032.3(FTH1):c.261+23_261+29dup	noncoding	Benign
11	61967909	A	AC	G61967920C	FTH1	Single_allele	noncoding	Benign
11	61967909	AC	A	C61967919G	FTH1	Single_allele	noncoding	Benign
11	61967913	C	CA	C61967914A	FTH1	Single_allele	noncoding	Benign
11	61967918	C	CA	C61967919A	FTH1	Single_allele	noncoding	Benign
11	62127971	TA	T	A62127972G	INCENP	NM_001040694.2(INCENP):c.-11-179del	noncoding	Benign
11	62127972	AG	A	G62127976A	INCENP	NM_001040694.2(INCENP):c.-11-175del	noncoding	Benign
11	62356307	ACTT	A	C62356311T	ASRGL1	NM_001083926.2(ASRGL1):c.191-14_191-12del	noncoding	Benign
11	62392071	GT	G	T62392075C	ASRGL1	NM_001083926.2(ASRGL1):c.722-4del	noncoding	Benign
11	62617088	C	CA	C62617089A	B3GAT3	NM_012200.4(B3GAT3):c.516_517insT:p.Gly173fs	coding	Pathogenic/Likely_pathogenic
11	62690826	TA	T	A62690828C	BSCL2	NM_001122955.4(BSCL2):c.1113del:p.Thr372fs	coding	Pathogenic
11	62694629	A	ATG	A62694630T	BSCL2	NM_001122955.4(BSCL2):c.568_569insCA:p.Phe190fs	coding	Pathogenic
11	62705075	C	CT	A62705095T	BSCL2	NM_001122955.4(BSCL2):c.404+207dup	noncoding	Benign
11	62705075	CT	C	T62705094A	BSCL2	NM_001122955.4(BSCL2):c.404+225del	noncoding	Benign
11	62705319	G	GTC	G62705320T	BSCL2	NM_001122955.4(BSCL2):c.385_386insGA:p.Pro129fs	coding	Pathogenic
11	62707042	GCCC	G	C62707045T	BSCL2	NM_001122955.4(BSCL2):c.87+64_87+66del	noncoding	Benign
11	63631023	TCAG	T	G63631029C	ATL3	NM_015459.5(ATL3):c.1539+14_1539+16del	noncoding	Benign
11	63632820	T	TCAAAA	G63632844A	ATL3	NM_015459.5(ATL3):c.1107+186TTTTG[5]	noncoding	Benign
11	63633109	G	GA	C63633115A	ATL3	NM_015459.5(ATL3):c.1036-13dup	noncoding	Benign
11	63635397	T	TA	T63635407A	ATL3	NM_015459.5(ATL3):c.1035+128dup	noncoding	Benign
11	63644368	G	GA	T63644369A	ATL3	NM_015459.5(ATL3):c.619-108_619-107insT	noncoding	Benign
11	63644370	A	ACGTACT	G63644371C	ATL3	NM_015459.5(ATL3):c.619-110_619-109insAGTACG	noncoding	Benign
11	63644382	C	CT	A63644405T	ATL3	NM_015459.5(ATL3):c.619-143dup	noncoding	Benign
11	63644382	CT	C	T63644404A	ATL3	NM_015459.5(ATL3):c.619-122del	noncoding	Benign
11	63646490	AAAAT	A	A63646496T	ATL3	NM_015459.5(ATL3):c.618+13_618+16del	noncoding	Benign
11	64211295	CG	C	G64211300A	FERMT3	NM_031471.6(FERMT3):c.540del:p.Met181fs	coding	Pathogenic
11	64219237	TC	T	C64219243G	FERMT3	NM_031471.6(FERMT3):c.787-8del	noncoding	Benign
11	64219237	T	TC	G64219244C	FERMT3	NM_031471.6(FERMT3):c.787-8dup	noncoding	Benign
11	64219549	GC	G	C64219550G	FERMT3	NM_031471.6(FERMT3):c.921del:p.Ser307fs	coding	Pathogenic
11	64223295	CCT	C	C64223298G	FERMT3	NM_031471.6(FERMT3):c.1813-15_1813-14del	noncoding	Benign
11	64298255	CGCCCCAGGGT	C	G64298256T	KCNK4	NM_033310.3(KCNK4):c.801+7_801+16del	noncoding	Benign
11	64593715	AC	A	C64593716A	SLC22A12	NM_144585.4(SLC22A12):c.743del:p.Thr248fs	coding	Pathogenic
11	64599625	A	AC	A64599635C	SLC22A12	NM_144585.4(SLC22A12):c.1071-42dup	noncoding	Benign
11	64599625	AC	A	C64599634A	SLC22A12	NM_144585.4(SLC22A12):c.1071-42del	noncoding	Benign
11	64599634	C	CCCA	A64599635C	SLC22A12	NM_144585.4(SLC22A12):c.1071-42_1071-41insCCA	noncoding	Benign
11	64714216	C	CCA	T64714217C	NRXN2	NM_015080.4(NRXN2):c.-244-274_-244-273insTG	noncoding	Benign
11	64727506	ATTTT	A	T64727527G	RASGRP2	NM_001098671.2(RASGRP2):c.1772-150_1772-147del	noncoding	Benign
11	64729713	CAAAA	C	A64729722C	RASGRP2	NM_001098671.2(RASGRP2):c.1591+45_1591+48del	noncoding	Benign
11	64729713	C	CA	C64729726A	RASGRP2	NM_001098671.2(RASGRP2):c.1591+37dup	noncoding	Benign
11	64730415	TC	T	C64730416T	RASGRP2	NM_001098671.2(RASGRP2):c.1413-222del	noncoding	Benign
11	64736071	CT	C	T64736072C	RASGRP2	NM_001098671.2(RASGRP2):c.1096-92del	noncoding	Benign
11	64739140	T	TAA	G64739157A	RASGRP2	NM_001098671.2(RASGRP2):c.813+204_813+205dup	noncoding	Benign
11	64746739	T	TG	C64746741G	PYGM	NM_005609.4(PYGM):c.2448dup:p.Thr817fs	coding	Pathogenic
11	64746918	CA	AT	C64746918A	PYGM	NM_005609.4(PYGM):c.2379+2_2379+3delinsAT	noncoding	Pathogenic
11	64746933	GCTGA	G	G64746936T	PYGM	NM_005609.4(PYGM):c.2363_2366del:p.Val788fs	coding	Pathogenic
11	64750398	CA	C	A64750399T	PYGM	NM_005609.4(PYGM):c.2154del:p.Asp718fs	coding	Pathogenic
11	64750438	TCC	T	C64750440G	PYGM	NM_005609.4(PYGM):c.2113_2114del:p.Gly705fs	coding	Pathogenic
11	64750475	A	AT	G64750477T	PYGM	NM_005609.4(PYGM):c.2077dup:p.Met693fs	coding	Pathogenic
11	64751440	C	CT	G64751443T	PYGM	NM_005609.4(PYGM):c.1853dup:p.Met619fs	coding	Pathogenic
11	64752499	GA	G	A64752500T	PYGM	NM_005609.4(PYGM):c.1523del:p.Ile508fs	coding	Pathogenic
11	64753083	AC	A	C64753085T	PYGM	NM_005609.4(PYGM):c.1507del:p.Val503fs	coding	Pathogenic
11	64753557	GCCGTTGA	G	C64753559G	PYGM	NM_005609.4(PYGM):c.1358_1364del:p.Val453fs	coding	Pathogenic
11	64753568	C	CG	T64753570G	PYGM	NM_005609.4(PYGM):c.1353dup:p.Ala452fs	coding	Pathogenic
11	64753633	G	GACATGCGCCGC	G64753646C	PYGM	NM_005609.4(PYGM):c.1278_1288dup:p.Ser430fs	coding	Pathogenic
11	64753878	CG	AT	C64753878A	PYGM	NM_005609.4(PYGM):c.1239_1239+1delinsAT	noncoding	Pathogenic
11	64753958	CG	C	G64753959C	PYGM	NM_005609.4(PYGM):c.1159del:p.Arg387fs	coding	Pathogenic
11	64753973	GGCAGCAC	G	G64753974C	PYGM	NM_005609.4(PYGM):c.1138_1144del:p.Val380fs	coding	Pathogenic
11	64754034	C	CG	T64754039G	PYGM	NM_005609.4(PYGM):c.1093-13dup	noncoding	Benign
11	64755488	AG	A	G64755490C	PYGM	NM_005609.4(PYGM):c.730del:p.Leu244fs	coding	Pathogenic
11	64755562	CG	C	G64755568C	PYGM	NM_005609.4(PYGM):c.661-5del	noncoding	Benign
11	64757779	CTG	C	G64757785C	PYGM	NM_005609.4(PYGM):c.658_659del:p.Gln220fs	coding	Pathogenic
11	64757806	GC	G	C64757807T	PYGM	NM_005609.4(PYGM):c.632del:p.Ser211fs	coding	Pathogenic
11	64758252	GC	G	C64758257G	PYGM	NM_005609.4(PYGM):c.521del:p.Gly174fs	coding	Pathogenic
11	64758259	GAGATCTTCTGGTTAAAAATCCC	G	G64758261A	PYGM	NM_005609.4(PYGM):c.493_514del:p.Gly165fs	coding	Pathogenic
11	64758262	ATCT	A	T64758266G	PYGM	NM_005609.4(PYGM):c.506AGA[1]:p.Lys170del	coding	Pathogenic
11	64758453	GC	G	C64758458G	PYGM	NM_005609.4(PYGM):c.407del:p.Gly136fs	coding	Pathogenic/Likely_pathogenic
11	64758487	TC	T	C64758489T	PYGM	NM_005609.4(PYGM):c.373del:p.Glu125fs	coding	Pathogenic
11	64758686	AAGACAGGTAGT	A	C64758690T	PYGM	NM_005609.4(PYGM):c.251_261del:p.Tyr84fs	coding	Pathogenic/Likely_pathogenic
11	64758686	AAG	A	G64758688C	PYGM	NM_005609.4(PYGM):c.260_261del:p.Ser87fs	coding	Pathogenic
11	64759741	TA	T	A64759742G	PYGM	NM_005609.4(PYGM):c.157del:p.Tyr53fs	coding	Pathogenic
11	64804445	GGCGCTCGAGTTGATCTTGGTGGC	G	G64804446C	MEN1	NM_001370259.2(MEN1):c.1699_1721del:p.Ala567fs	coding	Pathogenic
11	64804506	TG	T	G64804508A	MEN1	NM_001370259.2(MEN1):c.1660del:p.Gln554fs	coding	Pathogenic
11	64804508	GAA	G	A64804510G	MEN1	NM_001370259.2(MEN1):c.1657_1658del:p.Phe553fs	coding	Pathogenic
11	64804509	A	AG	A64804510G	MEN1	NM_001370259.2(MEN1):c.1657_1658insC:p.Phe553fs	coding	Pathogenic
11	64804552	C	CT	G64804554T	MEN1	NM_001370259.2(MEN1):c.1614dup:p.Ala539fs	coding	Pathogenic
11	64804557	AC	A	C64804559T	MEN1	NM_001370259.2(MEN1):c.1609del:p.Val537fs	coding	Pathogenic/Likely_pathogenic
11	64804610	AG	A	G64804612A	MEN1	NM_001370259.2(MEN1):c.1556del:p.Pro519fs	coding	Pathogenic
11	64804617	TTC	T	T64804618C	MEN1	NM_001370259.2(MEN1):c.1548_1549del:p.Lys517fs	coding	Pathogenic
11	64804618	TC	T	C64804620G	MEN1	NM_001370259.2(MEN1):c.1548del:p.Lys517fs	coding	Pathogenic
11	64804619	C	CCG	G64804622C	MEN1	NM_001370259.2(MEN1):c.1546_1547dup:p.Lys517fs	coding	Pathogenic
11	64804627	GT	G	T64804628C	MEN1	NM_001370259.2(MEN1):c.1539del:p.Arg516fs	coding	Pathogenic/Likely_pathogenic
11	64804688	CG	C	G64804693C	MEN1	NM_001370259.2(MEN1):c.1478del:p.Pro493fs	coding	Pathogenic
11	64804721	GC	G	C64804725G	MEN1	NM_001370259.2(MEN1):c.1445del:p.Gly482fs	coding	Pathogenic
11	64804725	CGCCGCCG	C	G64804729T	MEN1	NM_001370259.2(MEN1):c.1435_1441del:p.Arg479fs	coding	Pathogenic
11	64804737	TC	T	C64804740G	MEN1	NM_001370259.2(MEN1):c.1429del:p.Glu477fs	coding	Pathogenic
11	64804773	GC	G	C64804775G	MEN1	NM_001370259.2(MEN1):c.1393del:p.Ala465fs	coding	Pathogenic
11	64804775	C	CGA	C64804777A	MEN1	NM_001370259.2(MEN1):c.1391_1392insTC:p.Ala465fs	coding	Pathogenic
11	64804775	C	CG	C64804777G	MEN1	NM_001370259.2(MEN1):c.1391dup:p.Ala465fs	coding	Pathogenic
11	64804775	C	CGCCTCGGCCTCTCGGCT	C64804793G	MEN1	NM_001370259.2(MEN1):c.1375_1391dup:p.Ala467fs	coding	Pathogenic
11	64804783	CCTCT	C	T64804785G	MEN1	NM_001370259.2(MEN1):c.1380_1383del:p.Glu461fs	coding	Pathogenic
11	64804799	GCGCACCTTCTGC	G	T64804807G	MEN1	NG_008929.1:g.11484_11495del	coding	Pathogenic
11	64804810	G	GC	G64804813C	MEN1	NM_001370259.2(MEN1):c.1356dup:p.Gln453fs	coding	Pathogenic
11	64805101	G	GGACT	C64805107A	MEN1	NM_001370259.2(MEN1):c.1279_1282dup:p.Pro428fs	coding	Pathogenic
11	64805117	AT	A	T64805120G	MEN1	NM_001370259.2(MEN1):c.1266del:p.Lys422fs	coding	Pathogenic/Likely_pathogenic
11	64805162	C	CA	G64805164A	MEN1	NM_001370259.2(MEN1):c.1221dup:p.Glu408Ter	coding	Pathogenic
11	64805639	CT	C	T64805642G	MEN1	NM_001370259.2(MEN1):c.1180del:p.Ser394fs	coding	Pathogenic
11	64805720	AC	A	C64805721T	MEN1	NM_001370259.2(MEN1):c.1099del:p.Glu366_Val367insTer	coding	Pathogenic
11	64805761	G	GCA	T64805762C	MEN1	NM_001370259.2(MEN1):c.1058_1059insTG:p.Cys354fs	coding	Pathogenic
11	64806235	TG	T	G64806237A	MEN1	NM_001370259.2(MEN1):c.1045del:p.Gln349fs	coding	Pathogenic
11	64806267	CA	C	A64806268G	MEN1	NM_001370259.2(MEN1):c.1013del:p.Leu338fs	coding	Pathogenic
11	64806274	T	TC	G64806278C	MEN1	NM_001370259.2(MEN1):c.1006dup:p.Glu336fs	coding	Pathogenic
11	64806319	TA	T	A64806320G	MEN1	NM_001370259.2(MEN1):c.961del:p.Tyr321fs	coding	Pathogenic
11	64807091	TG	T	G64807095T	MEN1	NM_001370259.2(MEN1):c.831del:p.Met278fs	coding	Pathogenic
11	64807595	A	AT	G64807597T	MEN1	NM_001370259.2(MEN1):c.739dup:p.Ile247fs	coding	Pathogenic
11	64807646	C	CA	G64807648A	MEN1	NM_001370259.2(MEN1):c.688dup:p.Cys230fs	coding	Pathogenic
11	64807684	AG	A	G64807691A	MEN1	NM_001370259.2(MEN1):c.655-5del	noncoding	Benign
11	64807872	TG	T	G64807878A	MEN1	NM_001370259.2(MEN1):c.654+18del	noncoding	Benign
11	64807872	T	TG	A64807879G	MEN1	NM_001370259.2(MEN1):c.654+18dup	noncoding	Benign
11	64807898	GC	G	C64807900A	MEN1	NM_001370259.2(MEN1):c.646del:p.Ala216fs	coding	Pathogenic
11	64807910	TTGAC	T	A64807913T	MEN1	NM_001370259.2(MEN1):c.631_634del:p.Val211fs	coding	Pathogenic
11	64808010	C	CA	G64808012A	MEN1	NM_001370259.2(MEN1):c.534dup:p.Glu179Ter	coding	Pathogenic
11	64808018	GC	G	C64808019G	MEN1	NM_001370259.2(MEN1):c.526del:p.Ala176fs	coding	Pathogenic
11	64808037	G	GAC	C64808040A	MEN1	NM_001370259.2(MEN1):c.506_507dup:p.Leu170fs	coding	Pathogenic
11	64808070	AG	A	G64808072C	MEN1	NM_001370259.2(MEN1):c.474del:p.Phe159fs	coding	Pathogenic
11	64809766	CG	C	G64809768C	MEN1	NM_001370259.2(MEN1):c.343del:p.Arg115fs	coding	Pathogenic
11	64809794	AGAGG	A	G64809797C	MEN1	NM_001370259.2(MEN1):c.312_315del:p.Leu105fs	coding	Pathogenic
11	64809796	A	AG	A64809800G	MEN1	NM_001370259.2(MEN1):c.313dup:p.Leu105fs	coding	Pathogenic
11	64809840	A	AT	A64809842T	MEN1	NM_001370259.2(MEN1):c.269dup:p.Tyr90Ter	coding	Pathogenic
11	64809843	GAGGGCGGCGATGATAGACA	G	A64809844G	MEN1	NM_001370259.2(MEN1):c.248_266del:p.Leu83fs	coding	Pathogenic
11	64809871	AC	A	C64809872G	MEN1	NM_001370259.2(MEN1):c.238del:p.Val80fs	coding	Pathogenic
11	64809875	GA	G	A64809878G	MEN1	NM_001370259.2(MEN1):c.234del:p.Val80fs	coding	Pathogenic
11	64809875	G	GA	G64809879A	MEN1	NM_001370259.2(MEN1):c.234dup:p.Pro79fs	coding	Pathogenic
11	64809908	CG	C	G64809912C	MEN1	NM_001370259.2(MEN1):c.201del:p.Ala68fs	coding	Pathogenic
11	64809923	A	AG	T64809926G	MEN1	NM_001370259.2(MEN1):c.186dup:p.Phe63fs	coding	Pathogenic
11	64809957	G	GT	G64809960T	MEN1	NM_001370259.2(MEN1):c.152dup:p.Asn51fs	coding	Pathogenic
11	64809991	ACC	A	C64809992A	MEN1	NM_001370259.2(MEN1):c.117_118del:p.Leu39fs	coding	Pathogenic
11	64810019	CCT	C	T64810023G	MEN1	NM_001370259.2(MEN1):c.89_90del:p.Glu30fs	coding	Pathogenic
11	64810103	GC	G	C64810107A	MEN1	NM_001370259.2(MEN1):c.6del:p.Gly2_Leu3insTer	coding	Pathogenic
11	64810103	G	GC	A64810108C	MEN1	NM_001370259.2(MEN1):c.6dup:p.Leu3fs	coding	Pathogenic
11	65096497	TG	T	G65096504T	VPS51	NM_013265.4(VPS51):c.228+26del	noncoding	Benign
11	65187410	TC	T	C65187412T	CAPN1	NM_005186.4(CAPN1):c.843+114del	noncoding	Benign
11	65188707	CGGCGG	C	C65188710G	CAPN1	NM_005186.4(CAPN1):c.1129_1133del:p.Arg377fs	coding	Pathogenic/Likely_pathogenic
11	65206487	T	TTGAAGCGTGACTTCTTCCTGGCCAA	C65206515A	CAPN1	NM_005186.4(CAPN1):c.1381_1405dup:p.Ala469delinsGluAlaTer	coding	Pathogenic
11	65206522	GGC	G	G65206527T	CAPN1	NM_005186.4(CAPN1):c.1418_1419del:p.Arg473fs	coding	Pathogenic
11	65207914	AAAAAG	A	A65207930T	CAPN1	NM_005186.4(CAPN1):c.1606-140AAAAG[3]	noncoding	Benign
11	65208228	G	GT	G65208231T	CAPN1	NM_005186.4(CAPN1):c.1697dup:p.Leu566fs	coding	Pathogenic
11	65540055	C	CG	C65540059G	LTBP3	NM_001130144.3(LTBP3):c.3342dup:p.Gly1115fs	coding	Pathogenic
11	65540274	TGC	T	C65540278G	LTBP3	NM_001130144.3(LTBP3):c.3213_3214del:p.Gln1072fs	coding	Pathogenic
11	65540703	C	CGGGCGGGGCCTACAGGAG	G65540738A	LTBP3	NM_001130144.3(LTBP3):c.2978-107_2978-90dup	noncoding	Benign
11	65541860	G	GT	G65541862T	LTBP3	NM_001130144.3(LTBP3):c.2597-133dup	noncoding	Benign
11	65542931	A	AGGAT	A65542976G	LTBP3	NM_001130144.3(LTBP3):c.2596+130ATCC[12]	noncoding	Benign
11	65542931	AGGAT	A	G65542972A	LTBP3	NM_001130144.3(LTBP3):c.2596+130ATCC[10]	noncoding	Benign
11	65543158	T	TA	G65543160A	LTBP3	NM_001130144.3(LTBP3):c.2542dup:p.Tyr848fs	coding	Pathogenic
11	65547343	CG	C	G65547348A	LTBP3	NM_001130144.3(LTBP3):c.2107+95del	noncoding	Benign
11	65547347	GGA	G	G65547348A	LTBP3	NM_001130144.3(LTBP3):c.2107+90_2107+91del	noncoding	Benign
11	65547730	GC	G	C65547732G	LTBP3	NM_001130144.3(LTBP3):c.1937del:p.Gly646fs	coding	Pathogenic
11	65551566	TA	T	A65551570G	LTBP3	NM_001130144.3(LTBP3):c.1532-3del	noncoding	Benign
11	65551956	A	AG	T65551961G	LTBP3	NM_001130144.3(LTBP3):c.1531+15dup	noncoding	Benign
11	65552420	TG	T	G65552426C	LTBP3	NM_001130144.3(LTBP3):c.1187-15del	noncoding	Benign
11	65552885	T	TACAC	A65552887C	LTBP3	NM_001130144.3(LTBP3):c.1160_1161insGTGT:p.Gly388fs	coding	Pathogenic
11	65554174	CCA	C	C65554177G	LTBP3	NM_001130144.3(LTBP3):c.536_537del:p.Val179fs	coding	Pathogenic
11	65654617	C	CG	A65654620G	RELA	NM_021975.4(RELA):c.1416dup:p.Glu473fs	coding	Pathogenic
11	65655681	TC	T	C65655683T	RELA	NM_021975.4(RELA):c.1033+6del	noncoding	Benign
11	65662009	GC	TT	G65662009T	RELA	NM_021975.4(RELA):c.113_114delinsAA:p.Cys38Ter	coding	Pathogenic
11	65718834	T	TA	G65718838A	RNASEH2C	NM_032193.4(RNASEH2C):c.*948dup	coding	Benign/Likely_benign
11	65867625	A	AG	A65867626G	EFEMP2	NM_016938.5(EFEMP2):c.1170+235_1170+236insC	noncoding	Benign
11	65868316	G	GGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTA	C65868353T	EFEMP2	NM_016938.5(EFEMP2):c.919_952dup:p.Pro318fs	coding	Pathogenic
11	65870258	AGGAGGGC	A	G65870266A	EFEMP2	NM_016938.5(EFEMP2):c.491-28_491-22del	noncoding	Benign
11	66003579	TCACTGAG	T	C66003589G	BANF1	NM_003860.4(BANF1):c.124-37_124-31del	noncoding	Benign
11	66026403	CA	C	A66026407G	CATSPER1	NM_053054.4(CATSPER1):c.-25del	noncoding	Benign/Likely_benign
11	66045026	GAGA	G	A66045029T	GAL3ST3	NM_033036.3(GAL3ST3):c.125+262_125+264del	noncoding	Benign
11	66061683	CA	C	A66061684G	SF3B2	NM_006842.3(SF3B2):c.1780-2del	noncoding	Pathogenic
11	66068196	G	GC	G66068198C	SF3B2	NM_006842.3(SF3B2):c.2480dup:p.Leu828fs	coding	Pathogenic
11	66070581	C	CGCCGCCGCAGCAGCAGCAGCAGCA	C66070620A	PACS1	NM_018026.4(PACS1):c.110_133dup:p.Gln37_Gln44dup	coding	Benign/Likely_benign
11	66070587	C	CGCA	C66070608A	PACS1	NM_018026.4(PACS1):c.104AGC[7]:p.Gln40_Pro41insGln	coding	Benign
11	66070728	CCTCGGG	C	G66070732C	PACS1	NM_018026.4(PACS1):c.246_251del:p.Gly83_Ser84del	coding	Benign
11	66236112	G	GGGGTACCCAGT	G66236128A	PACS1	NM_018026.4(PACS1):c.2250+177_2250+187dup	noncoding	Benign
11	66239134	CCT	C	C66239135G	PACS1	NM_018026.4(PACS1):c.2294-7_2294-6del	noncoding	Benign/Likely_benign
11	66265241	T	TGGGGC	T66265252G	KLC2	NM_001318734.2(KLC2):c.1334+7GGGGC[3]	noncoding	Benign
11	66347679	CCCGCCCG	C	G66347710A	B4GAT1	Single_allele	noncoding	Benign
11	66515939	A	ACC	T66515945C	BBS1	NM_024649.5(BBS1):c.591+10_591+11dup	noncoding	Benign
11	66519631	CA	C	A66519632T	BBS1	NM_024649.5(BBS1):c.607del:p.Thr202_Met203insTer	coding	Pathogenic
11	66521297	CT	C	T66521298A	BBS1	NM_024649.5(BBS1):c.752del:p.Leu251fs	coding	Pathogenic
11	66523750	GC	G	C66523753G	BBS1	NM_024649.5(BBS1):c.981del:p.Ala328fs	coding	Pathogenic/Likely_pathogenic
11	66523793	C	CG	C66523798G	BBS1	NM_024649.5(BBS1):c.1025dup:p.Leu343fs	coding	Pathogenic
11	66526687	GTGTTTGTAGAGGGAGGAAGTGAGGTGGGTCCCCCACCAGCCCAGGCCATGAAACTCAATGTGCCCCGAAAGACCCGGCTTTACGTGGATCAGACACTGCGAGAGCGGGAGGCTGGCACCGGTGAGCCTCAGACTGGGTCCTTTCCCTTCTTCCTCCTCCACTGCTCCTACACAGCAAAGCTGGGGGAATGCTGCCCAGCCTCCCTGTGCACTGGGAGGAGATCTCGGCCAACTAGGTAGGTCACTCACCTCTGCAAATCCAGGGACAGCCTAGGAGGTACACGTTGCCTGCAAATCACTGTTCCTCAGGCTGGAAGGTGCTGTGGGTGACAGCAAGAGCCCTTAGAATTCAGGGAAGGGAGCAGTCACTTCCAAACGCAGGAATTCTCATGAGGAAAGTAGAATTTTGACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGCAGAGGTGGGAGGACAGCATGAGCCCAGGAGTTCAAGACCTACCTGGGTAACATAATGATACTTCTTTCTCAAAAAAAAAAAAAGAGAGAGAGAGAAAGAGAAAAGTAGAATTTGACCAGTGTCATCTTGTCCAGTTTTTCCTGCCCGTTTATTTGTTCATTCATTCATCGTTCGTTCATTCATTCATTCAGTACCTATGATTACACCAGGCCTTGTGCCAGGTGCCTTTAATTAGAATAGTCCCTACCTTGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCGGAGATGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGTTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATAAATAATAGTCCCTACCTTAGGAACTCAGTCTACCTGGGGCCAACTTCATGATCATGTGTAGAAGGGGTTTCTGCAAAGAGCTTTTGGAGCACACAGAGGGAGTAAGGACTTCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAGAATCACTTGAACCTAGGAGGCAAAGGTTGCAGTGAACCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAAGAGCCAGACTCCGTCTCAAAGAAAAAGAAAATGTACAAAGTCTAATAAAGTTGTAAAACTATCTTCAAGAACAGAAAAGACCACCTTCAAGAATGCTTAAGTGGAGAGAGTTACCAAGTTGCAGGATGGGAAGACCTAATGCTGTAAAGCTTGAAGTTGCAGTTAAAATCCCAGTGGGGTTTGTTTTAAGGACCTGGCCAGTTGATTCAAAGAGTAAACCTAAGAAGATTGGGGAAAATAAGAATGAGGGGACTTACCCTATCAGGTAGCAAAATGAACTCAAGCTGTGGGAATCAGAAGCTGTGGTGTGGATGCAGAAATAGAATGGAGATCAGGGCAGGATTAGGAAGTCCAGAAACTGACCCTGAACATGTGGAAAGTCAGAGTGTGTGAAAGGTGTCATTTTGAATTGGCAGGGAGATGTGAGACTGTCCAAAAACACACAATCAGGACAACTTGCTTCTAGAAAAGAAAATTAGACCTTTTCGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAATACAAAAAATTAGCCAGGCTTGGCGGCGCGTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGAT	G	T66526690C	BBS1	NM_001348571.2(ZDHHC24):c.560-4178_*21+248del	coding	Pathogenic
11	66529855	T	TGCGCCTACGTGCTGCCC	C66529881G	BBS1	NM_024649.5(BBS1):c.1385_1401dup:p.Leu468fs	coding	Pathogenic
11	66530907	GC	G	C66530911A	BBS1	NM_024649.5(BBS1):c.1491del:p.Thr498fs	coding	Pathogenic
11	66530982	TC	T	C66530984T	BBS1	NM_024649.5(BBS1):c.1564del:p.Leu522fs	coding	Pathogenic
11	66531689	C	CT	G66531691T	BBS1	NM_024649.5(BBS1):c.1643dup:p.Glu549fs	coding	Pathogenic/Likely_pathogenic
11	66565711	GCCCA	G	C66565712T	CTSF	NM_003793.4(CTSF):c.1001_1004del:p.Met334fs	coding	Pathogenic
11	66565712	CCCATGCAGGCC	AGTAGGCA	C66565712A	CTSF	NM_003793.4(CTSF):c.993_1004delinsTGCCTACT:p.Lys331fs	coding	Pathogenic
11	66689267	ATTTC	A	C66689283T	SPTBN2	NM_006946.4(SPTBN2):c.5950-103GAAA[3]	noncoding	Benign
11	66691496	C	CA	G66691498A	SPTBN2	NM_006946.4(SPTBN2):c.5352dup:p.Asp1785Ter	coding	Pathogenic
11	66691846	ACTCC	A	C66691851A	SPTBN2	NM_006946.4(SPTBN2):c.5191-192_5191-189del	noncoding	Benign
11	66705375	CGCCGCGCCGCTGCCA	C	G66705376A	SPTBN2	NM_006946.4(SPTBN2):c.1886_1900del:p.Leu629_Arg634delinsTrp	coding	Pathogenic
11	66709180	CATTTT	C	A66709191G	SPTBN2	NM_006946.4(SPTBN2):c.1074-176AAAAT[2]	noncoding	Benign
11	66710393	AT	A	T66710398A	SPTBN2	NM_006946.4(SPTBN2):c.1073+188del	noncoding	Benign
11	66849048	TG	T	G66849050C	PC	NM_001040716.2(PC):c.3387del:p.Lys1130fs	coding	Pathogenic
11	66849327	GC	G	C66849329A	PC	NM_001040716.2(PC):c.3190del:p.Ala1064fs	coding	Pathogenic
11	66849353	GC	G	C66849357G	PC	NM_001040716.2(PC):c.3164del:p.Gly1055fs	coding	Pathogenic
11	66849655	T	TA	T66849657A	PC	NM_001040716.2(PC):c.3102dup:p.Thr1035fs	coding	Pathogenic
11	66849804	AG	A	G66849808A	PC	NM_001040716.2(PC):c.2953del:p.Leu985fs	coding	Pathogenic
11	66849861	TG	T	G66849865A	PC	NM_001040716.2(PC):c.2899-3del	noncoding	Benign
11	66850296	ATGCTGTGGGCCTGGAAG	A	T66850300A	PC	NM_001040716.2(PC):c.2625_2641del:p.Phe876fs	coding	Pathogenic
11	66850356	AC	A	C66850357G	PC	NM_001040716.2(PC):c.2581del:p.Val861fs	coding	Pathogenic
11	66850817	CCT	C	C66850818G	PC	NM_001040716.2(PC):c.2328_2329del:p.Ala778fs	coding	Pathogenic
11	66850925	TG	T	G66850930A	PC	NM_001040716.2(PC):c.2224-3del	noncoding	Benign
11	66851103	CAGTG	C	G66851107A	PC	NM_001040716.2(PC):c.2156_2159del:p.Ser719fs	coding	Pathogenic
11	66852433	GCCTA	G	A66852437C	PC	NM_001040716.2(PC):c.1825+2_1825+5del	noncoding	Pathogenic
11	66852557	GGTCGT	G	G66852561C	PC	NM_001040716.2(PC):c.1702_1706del:p.Thr568fs	coding	Pathogenic
11	66866287	AG	A	G66866289C	PC	NM_001040716.2(PC):c.1084del:p.Leu362fs	coding	Pathogenic
11	66866302	AGGC	CTGCCTGCCCTCAGCCACGTGGA	A66866302C	PC	NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG:p.Ser356fs	coding	Pathogenic
11	66868968	T	TG	C66868974G	PC	NM_001040716.2(PC):c.904-5dup	noncoding	Benign
11	66871435	C	CA	G66871437A	PC	NM_001040716.2(PC):c.366dup:p.Glu123Ter	coding	Pathogenic
11	66871488	T	TG	T66871494G	PC	NM_001040716.2(PC):c.322-9dup	noncoding	Benign
11	67455483	GC	G	C67455488T	CABP4	NM_145200.5(CABP4):c.65del:p.Pro22fs	coding	Pathogenic/Likely_pathogenic
11	67455488	C	CT	G67455490T	CABP4	NM_145200.5(CABP4):c.66dup:p.Ala23fs	coding	Pathogenic
11	67456189	AC	A	C67456191G	CABP4	NM_145200.5(CABP4):c.370del:p.Arg124fs	coding	Pathogenic
11	67456448	TCA	T	C67456449G	CABP4	NM_145200.5(CABP4):c.541+7_541+8del	noncoding	Benign
11	67482759	G	GT	C67482774T	AIP	Single_allele	noncoding	Benign
11	67489325	A	AC	T67489331C	AIP	NM_003977.4(AIP):c.343dup:p.Leu115fs	coding	Pathogenic
11	67489888	A	ATGTT	A67489895T	AIP	NM_003977.4(AIP):c.469-147_469-144dup	noncoding	Benign
11	67490167	GC	G	C67490169A	AIP	NM_003977.4(AIP):c.600del:p.Lys201fs	coding	Pathogenic
11	67608225	C	CAA	T67608239A	NDUFV1	NM_007103.4(NDUFV1):c.73-159_73-158dup	noncoding	Benign
11	67608225	C	CA	T67608239A	NDUFV1	NM_007103.4(NDUFV1):c.73-158dup	noncoding	Benign
11	67610337	CTGGGCTGGGGG	C	G67610347A	NDUFV1	NM_007103.4(NDUFV1):c.511-34_511-24del	noncoding	Benign
11	67611089	T	TG	C67611092G	NDUFV1	NM_007103.4(NDUFV1):c.797dup:p.Arg267fs	coding	Pathogenic
11	67996649	TAAAG	T	A67996654G	UNC93B1	NM_030930.4(UNC93B1):c.1038_1041del:p.Phe346fs	coding	Pathogenic
11	67997692	A	AG	C67997695G	UNC93B1	NM_030930.4(UNC93B1):c.888dup:p.Phe297fs	coding	Benign
11	68036017	CAAAAAAAAAAA	C	A68036032C	NDUFS8	NM_002496.4(NDUFS8):c.373-221_373-211del	noncoding	Benign
11	68036017	C	CA	C68036043A	NDUFS8	NM_002496.4(NDUFS8):c.373-211dup	noncoding	Benign
11	68041806	CTG	C	T68041809A	TCIRG1	NM_006019.4(TCIRG1):c.174_175del:p.Cys58_Glu59delinsTer	coding	Pathogenic
11	68042683	GC	G	C68042688G	TCIRG1	NM_006019.4(TCIRG1):c.242del:p.Pro81fs	coding	Pathogenic/Likely_pathogenic
11	68042974	CAGAG	C	A68042977G	TCIRG1	NM_006019.4(TCIRG1):c.449_452del:p.Glu150fs	coding	Pathogenic
11	68042997	G	GC	G68043003C	TCIRG1	NM_006019.4(TCIRG1):c.474dup:p.Gly159fs	coding	Pathogenic
11	68043002	C	CG	C68043009G	TCIRG1	NM_006019.4(TCIRG1):c.480dup:p.Pro161fs	coding	Pathogenic/Likely_pathogenic
11	68043002	CG	C	G68043008C	TCIRG1	NM_006019.4(TCIRG1):c.480del:p.Pro161fs	coding	Pathogenic
11	68043390	G	GAGCC	C68043395A	TCIRG1	NM_006019.4(TCIRG1):c.524_527dup:p.His177fs	coding	Pathogenic
11	68043394	CCCACAAGG	C	A68043397C	TCIRG1	NM_006019.4(TCIRG1):c.530_537del:p.His177fs	coding	Pathogenic
11	68043896	GA	G	A68043897G	TCIRG1	NM_006019.4(TCIRG1):c.797del:p.Glu266fs	coding	Pathogenic
11	68044145	CAG	C	A68044148C	TCIRG1	NM_006019.4(TCIRG1):c.824_825del:p.Glu275fs	coding	Pathogenic
11	68044224	GGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGT	G	G68044228T	TCIRG1	NM_006019.4(TCIRG1):c.904_952del:p.Val302fs	coding	Pathogenic
11	68047494	CG	C	G68047497C	TCIRG1	NM_006019.4(TCIRG1):c.1230del:p.Leu411fs	coding	Pathogenic
11	68047659	TTC	T	C68047661T	TCIRG1	NM_006019.4(TCIRG1):c.1320_1321del:p.Phe441fs	coding	Pathogenic
11	68047684	T	TGCTTATGGGCCTGTTCTCCATCTACACCG	C68047718A	TCIRG1	NM_006019.4(TCIRG1):c.1348_1376dup:p.Phe459fs	coding	Pathogenic
11	68047689	A	AT	G68047691T	TCIRG1	NM_006019.4(TCIRG1):c.1349dup:p.Met450fs	coding	Pathogenic
11	68047710	AC	A	C68047712G	TCIRG1	NM_006019.4(TCIRG1):c.1371del:p.Gly458fs	coding	Pathogenic
11	68047722	TACA	T	A68047725G	TCIRG1	NM_006019.4(TCIRG1):c.1384_1386del:p.Asn462del	coding	Pathogenic
11	68047799	CT	C	T68047800G	TCIRG1	NM_006019.4(TCIRG1):c.1459del:p.Trp487fs	coding	Pathogenic
11	68047913	AC	A	C68047916T	TCIRG1	NM_006019.4(TCIRG1):c.1498del:p.Leu500fs	coding	Pathogenic
11	68048969	G	GGGGT	T68048976G	TCIRG1	NM_006019.4(TCIRG1):c.1648_1651dup:p.Val551fs	coding	Pathogenic
11	68049016	C	CG	A68049022G	TCIRG1	NM_006019.4(TCIRG1):c.1673+24dup	noncoding	Benign
11	68049140	TG	T	G68049143A	TCIRG1	NM_006019.4(TCIRG1):c.1736del:p.Gly579fs	coding	Pathogenic
11	68049751	AC	A	C68049753G	TCIRG1	NM_006019.4(TCIRG1):c.1978del:p.Arg660fs	coding	Pathogenic/Likely_pathogenic
11	68049796	CG	C	G68049800C	TCIRG1	NM_006019.4(TCIRG1):c.2013+12del	noncoding	Benign
11	68050176	ACCATCGAGTTCTGCCTGGG	A	C68050178T	TCIRG1	NM_006019.4(TCIRG1):c.2160_2178del:p.Ile721fs	coding	Pathogenic
11	68050235	CCT	C	C68050236G	TCIRG1	NM_006019.4(TCIRG1):c.2218_2219del:p.Leu740fs	coding	Pathogenic
11	68050250	C	CG	C68050252G	TCIRG1	NM_006019.4(TCIRG1):c.2233dup:p.Ala745fs	coding	Pathogenic
11	68050578	C	CT	G68050582T	TCIRG1	NM_006019.4(TCIRG1):c.2331dup:p.Ala778fs	coding	Pathogenic
11	68050629	ACT	A	T68050633A	TCIRG1	NM_006019.4(TCIRG1):c.2383_2384del:p.Ala796fs	coding	Pathogenic
11	68157920	AAGAG	A	G68157924A	KMT5B	NM_017635.5(KMT5B):c.2422_2425del:p.Leu808fs	coding	Pathogenic
11	68157952	A	AT	C68157957T	KMT5B	NM_017635.5(KMT5B):c.2393dup:p.Asn798fs	coding	Pathogenic
11	68158811	TGTCTA	T	T68158815A	KMT5B	NM_017635.5(KMT5B):c.1530_1534del:p.His512fs	coding	Pathogenic
11	68166989	G	GT	C68166997T	KMT5B	NM_017635.5(KMT5B):c.1166dup:p.Asn389fs	coding	Pathogenic
11	68171226	GCTTAC	G	C68171232A	KMT5B	NM_017635.5(KMT5B):c.840+1_840+5del	noncoding	Pathogenic
11	68173899	CAAAT	C	A68173909C	KMT5B	NM_017635.5(KMT5B):c.554_557del:p.Tyr185fs	coding	Pathogenic
11	68173923	G	GA	T68173933A	KMT5B	NM_017635.5(KMT5B):c.544-19dup	noncoding	Benign
11	68185853	TCA	T	C68185856G	KMT5B	NM_017635.5(KMT5B):c.234_235del:p.Cys78_Glu79delinsTer	coding	Pathogenic
11	68312746	CGCT	C	C68312772G	LRP5	NM_002335.4(LRP5):c.34CTG[8]:p.Leu20del	coding	Benign/Likely_benign
11	68312746	CGCTGCTGCT	C	C68312766G	LRP5	NM_002335.4(LRP5):c.34CTG[6]:p.Leu18_Leu20del	coding	Benign/Likely_benign
11	68347964	TC	AA	T68347964A	LRP5	NM_002335.4(LRP5):c.209_210delinsAA:p.Phe70Ter	coding	Pathogenic/Likely_pathogenic
11	68348023	AC	A	C68348025T	LRP5	NM_002335.4(LRP5):c.270del:p.Tyr91fs	coding	Pathogenic
11	68348100	C	CG	A68348102G	LRP5	NM_002335.4(LRP5):c.346dup:p.Asp116fs	coding	Pathogenic
11	68348231	A	AC	G68348236C	LRP5	NM_002335.4(LRP5):c.480dup:p.Ala161fs	coding	Pathogenic
11	68363829	AC	A	C68363832G	LRP5	NM_002335.4(LRP5):c.772del:p.Arg258fs	coding	Pathogenic
11	68365275	A	AG	A68365277G	LRP5	NM_002335.4(LRP5):c.884-295dup	noncoding	Benign
11	68365386	C	CG	C68365390G	LRP5	NM_002335.4(LRP5):c.884-182dup	noncoding	Benign
11	68365684	G	GGCAGGAC	T68365693C	LRP5	NM_002335.4(LRP5):c.999_1005dup:p.Cys336fs	coding	Pathogenic
11	68386673	TG	T	G68386675A	LRP5	NM_002335.4(LRP5):c.1375del:p.Asp459fs	coding	Pathogenic
11	68406962	T	TAA	G68406974A	LRP5	NM_002335.4(LRP5):c.2091+159_2091+160dup	noncoding	Benign
11	68406962	T	TA	G68406974A	LRP5	NM_002335.4(LRP5):c.2091+160dup	noncoding	Benign
11	68410066	CG	C	G68410069C	LRP5	NM_002335.4(LRP5):c.2247del:p.Gln750fs	coding	Pathogenic
11	68413937	C	CT	G68413940T	LRP5	NM_002335.4(LRP5):c.2754dup:p.Ala919fs	coding	Pathogenic
11	68416329	G	GCC	A68416333C	LRP5	NM_002335.4(LRP5):c.2831_2832dup:p.Thr945fs	coding	Pathogenic
11	68423710	CGGGT	C	T68423718G	LRP5	NM_002335.4(LRP5):c.3236+21_3236+24del	noncoding	Benign
11	68425206	C	CTG	G68425211T	LRP5	NM_002335.4(LRP5):c.3344_3345dup:p.Ala1116fs	coding	Pathogenic
11	68426423	C	CT	G68426443T	LRP5	NM_002335.4(LRP5):c.3637+255dup	noncoding	Benign
11	68426423	C	CTT	G68426443T	LRP5	NM_002335.4(LRP5):c.3637+254_3637+255dup	noncoding	Benign
11	68433605	C	CGCCCACCTGCTCCCCGGACCAGTTTGCATGTGCCACAGGGGAGATCGACTGT	A68433658G	LRP5	NM_002335.4(LRP5):c.3768_3819dup:p.Ile1274fs	coding	Pathogenic
11	68436553	A	AC	A68436561C	LRP5	NM_002335.4(LRP5):c.4001-329dup	noncoding	Benign
11	68436553	A	ACCC	A68436561C	LRP5	NM_002335.4(LRP5):c.4001-331_4001-329dup	noncoding	Benign
11	68438473	GC	G	C68438476G	LRP5	NM_002335.4(LRP5):c.4142del:p.Pro1381fs	coding	Pathogenic
11	68439879	GC	G	C68439880A	LRP5	NM_002335.4(LRP5):c.4452del:p.Ser1484fs	coding	Pathogenic/Likely_pathogenic
11	68439912	CGCCGGTGAGGGGCGGG	C	T68439918G	LRP5	NM_002335.4(LRP5):c.4488+2_4488+17del	coding	Pathogenic
11	68446407	C	CT	A68446409T	LRP5	NM_002335.4(LRP5):c.4489-28dup	noncoding	Benign
11	68449000	CGCCCGCCACCGAGAGGA	C	C68449003T	LRP5	NM_002335.4(LRP5):c.4781_4797del:p.Pro1594fs	coding	Pathogenic
11	68761540	TAAGGA	T	A68761545G	CPT1A	NM_001876.4(CPT1A):c.2018_2022del:p.Pro672_Phe673insTer	coding	Pathogenic
11	68761565	A	ATTTT	A68761567T	CPT1A	NM_001876.4(CPT1A):c.1997_1998insAAAA:p.Tyr666Ter	coding	Pathogenic/Likely_pathogenic
11	68761578	A	AC	G68761580C	CPT1A	NM_001876.4(CPT1A):c.1984dup:p.Val662fs	coding	Pathogenic
11	68762735	G	GTATGT	G68762741T	CPT1A	NM_001876.4(CPT1A):c.1762_1766dup:p.Tyr589Ter	coding	Pathogenic
11	68773294	GCA	G	C68773297A	CPT1A	NM_001876.4(CPT1A):c.1709_1710del:p.Val570fs	coding	Pathogenic
11	68775317	T	TC	G68775323C	CPT1A	NM_001876.4(CPT1A):c.1573dup:p.Glu525fs	coding	Pathogenic
11	68781794	T	TA	G68781796A	CPT1A	NM_001876.4(CPT1A):c.1328dup:p.Leu444fs	coding	Pathogenic
11	68796775	GC	G	C68796777T	CPT1A	NM_001876.4(CPT1A):c.771+80del	noncoding	Benign
11	68796884	AG	A	G68796885C	CPT1A	NM_001876.4(CPT1A):c.742del:p.Leu248fs	coding	Pathogenic
11	68799179	G	GA	T68799185A	CPT1A	NM_001876.4(CPT1A):c.693+34dup	noncoding	Benign
11	68799183	A	ACGCT	A68799184C	CPT1A	NM_001876.4(CPT1A):c.693+34_693+35insAGCG	noncoding	Benign
11	68799370	G	GA	G68799371A	CPT1A	NM_001876.4(CPT1A):c.556-16_556-15insT	noncoding	Benign
11	68803712	A	AAAAATAAAATAAAAT	G68803761A	CPT1A	NM_001876.4(CPT1A):c.555+243ATTTT[12]	noncoding	Benign
11	68803712	A	AAAAATAAAAT	G68803761A	CPT1A	NM_001876.4(CPT1A):c.555+243ATTTT[11]	noncoding	Benign
11	68803712	AAAAAT	A	A68803756G	CPT1A	NM_001876.4(CPT1A):c.555+243ATTTT[8]	noncoding	Benign
11	68803712	AAAAATAAAAT	A	A68803751G	CPT1A	NM_001876.4(CPT1A):c.555+243ATTTT[7]	noncoding	Benign
11	68803712	AAAAATAAAATAAAAT	A	A68803746G	CPT1A	NM_001876.4(CPT1A):c.555+243ATTTT[6]	noncoding	Benign
11	68803841	GGA	G	G68803844A	CPT1A	NM_001876.4(CPT1A):c.555+157_555+158del	noncoding	Benign
11	68803843	AG	A	G68803844A	CPT1A	NM_001876.4(CPT1A):c.555+156del	noncoding	Benign
11	68804009	AGT	A	G68804012C	CPT1A	NM_001876.4(CPT1A):c.544_545del:p.Thr182fs	coding	Pathogenic
11	68804024	CG	C	G68804027A	CPT1A	NM_001876.4(CPT1A):c.530del:p.Pro177fs	coding	Pathogenic
11	68903812	G	GCCGCCGCCATCTTC	A68903817C	IGHMBP2	NM_181514.2(MRPL21):c.-3_-2insGAAGATGGCGGCGG	noncoding	Benign
11	68908000	C	CT	A68908014T	IGHMBP2	NM_002180.3(IGHMBP2):c.257-132dup	noncoding	Benign
11	68908548	TA	T	A68908551G	IGHMBP2	NM_002180.3(IGHMBP2):c.467del:p.Lys156fs	coding	Pathogenic
11	68911355	T	TC	G68911361C	IGHMBP2	NM_002180.3(IGHMBP2):c.548-80dup	noncoding	Benign
11	68911587	TGAAAC	T	G68911588A	IGHMBP2	NM_002180.3(IGHMBP2):c.696_700del:p.Lys233fs	coding	Pathogenic
11	68914871	CGCCTG	C	C68914874T	IGHMBP2	NM_002180.3(IGHMBP2):c.763_767del:p.Leu255fs	coding	Pathogenic
11	68914890	AG	A	G68914891C	IGHMBP2	NM_002180.3(IGHMBP2):c.780del:p.Gln260fs	coding	Pathogenic
11	68933367	TGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGC	T	G68933368T	IGHMBP2	NM_002180.3(IGHMBP2):c.1305_1350del:p.Arg436fs	coding	Pathogenic
11	68936518	CA	C	A68936519G	IGHMBP2	NM_002180.3(IGHMBP2):c.2039del:p.Gln680fs	coding	Pathogenic
11	68939544	GC	G	C68939545G	IGHMBP2	NM_002180.3(IGHMBP2):c.2796del:p.Cys932fs	coding	Pathogenic
11	69816333	C	CG	T69816335G	FGF3	NM_005247.4(FGF3):c.310dup:p.Arg104fs	coding	Pathogenic/Likely_pathogenic
11	70203505	TCGAGCAG	T	A70203511T	FADD	NM_003824.4(FADD):c.52_58del:p.Ser17_Ser18insTer	coding	Pathogenic
11	70205971	G	GA	C70205972A	FADD	NM_003824.4(FADD):c.287-162_287-161insA	noncoding	Benign
11	70485539	GGGGGC	G	C70485544G	SHANK2	NM_012309.5(SHANK2):c.4749_4753del:p.Pro1584fs	coding	Pathogenic
11	70502276	AG	A	G70502278C	SHANK2	NM_012309.5(SHANK2):c.2207del:p.Pro736fs	coding	Pathogenic
11	70502850	TA	T	A70502852G	SHANK2	NM_012309.5(SHANK2):c.2142del:p.Lys715fs	coding	Pathogenic
11	71094679	A	AG	T71094686G	SHANK2	NM_012309.5(SHANK2):c.601dup:p.Leu201fs	coding	Pathogenic
11	71435202	AAGCAAGGAACAG	A	A71435206G	DHCR7	NM_001360.3(DHCR7):c.*161_*172del	noncoding	Benign/Likely_benign
11	71435745	AC	A	C71435748G	DHCR7	NM_001360.3(DHCR7):c.1057del:p.Val353fs	coding	Pathogenic/Likely_pathogenic
11	71435832	TAC	T	C71435834G	DHCR7	NM_001360.3(DHCR7):c.969_970del:p.Tyr324fs	coding	Pathogenic
11	71435841	T	TG	C71435848G	DHCR7	NM_001360.3(DHCR7):c.964-8dup	noncoding	Benign
11	71437825	AG	A	G71437826A	DHCR7	NM_001360.3(DHCR7):c.949del:p.Leu317fs	coding	Pathogenic
11	71437900	AG	A	G71437902T	DHCR7	NM_001360.3(DHCR7):c.874del:p.Tyr291_Leu292insTer	coding	Pathogenic/Likely_pathogenic
11	71438906	AT	A	T71438908G	DHCR7	NM_001360.3(DHCR7):c.803del:p.Asn268fs	coding	Pathogenic/Likely_pathogenic
11	71438948	G	GA	G71438949A	DHCR7	NM_001360.3(DHCR7):c.761_762insT:p.Phe255fs	coding	Pathogenic
11	71439029	A	AG	T71439033G	DHCR7	NM_001360.3(DHCR7):c.680dup:p.Arg228fs	coding	Pathogenic
11	71439050	CATGTAGTTGTAAAAGA	C	T71439052A	DHCR7	NM_001360.3(DHCR7):c.644_659del:p.Asn214_Phe215insTer	coding	Pathogenic
11	71439075	GT	G	T71439076G	DHCR7	NM_001360.3(DHCR7):c.634del:p.Thr212fs	coding	Pathogenic
11	71441430	GT	G	T71441432C	DHCR7	NM_001360.3(DHCR7):c.422del:p.Asn141fs	coding	Pathogenic
11	71444119	GCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCC	G	T71444123C	DHCR7	NM_001360.3(DHCR7):c.99_194del	coding	Pathogenic
11	72094686	T	TGA	G72094694A	LRTOMT	NM_145309.6(LRRC51):c.289-261GA[4]	noncoding	Benign
11	72094994	ACAGCATC	A	A72094999G	LRRC51;LRTOMT	NM_145309.6(LRRC51):c.340_346del:p.Ile114fs	coding	Pathogenic
11	72105946	GGGACCATGTCCCCT	G	G72105948C	LRTOMT	NM_001393500.2(TOMT):c.-4_10del:p.Met1fs	coding	Pathogenic
11	72192301	A	ACAAGGAAAAGCCAGGCCC	G72192321A	FOLR1	NM_016729.3(FOLR1):c.130_147dup:p.Lys44_Pro49dup	coding	Pathogenic
11	72195430	T	TCCCC	A72195436C	FOLR1	NM_016729.3(FOLR1):c.330_333dup:p.Asn112fs	coding	Pathogenic
11	72195982	GACTC	G	A72195987C	FOLR1	NM_016729.3(FOLR1):c.584_587del:p.His195fs	coding	Pathogenic
11	72196024	CC	T	C72196024T	FOLR1	NM_016729.3(FOLR1):c.621_622delinsT:p.Arg208fs	coding	Pathogenic
11	72225181	GGCTCCTTGCGGGCTGGCGTGGACCGGGA	G	T72225184G	INPPL1	NM_001567.4(INPPL1):c.182+18_182+45del	noncoding	Benign
11	72229247	GC	G	C72229251A	INPPL1	NM_001567.4(INPPL1):c.659+21del	noncoding	Benign
11	72230148	C	CTGACCAAGAT	G72230161A	INPPL1	NM_001567.4(INPPL1):c.970_979dup:p.Gly327fs	coding	Pathogenic
11	72231193	AG	A	G72231200T	INPPL1	NM_001567.4(INPPL1):c.1497+11del	noncoding	Benign
11	72234715	C	CAG	T72234734A	INPPL1	NM_001567.4(INPPL1):c.2415+101AG[10]	noncoding	Benign
11	72234732	A	AGAGTGT	T72234734A	INPPL1	NM_001567.4(INPPL1):c.2415+118_2415+119insAGTGTG	noncoding	Benign
11	72234732	A	AGT	A72234765G	INPPL1	NM_001567.4(INPPL1):c.2415+118GT[17]	noncoding	Benign
11	72234732	A	AGTGTGT	A72234765G	INPPL1	NM_001567.4(INPPL1):c.2415+118GT[19]	noncoding	Benign
11	72234732	AGT	A	G72234763A	INPPL1	NM_001567.4(INPPL1):c.2415+118GT[15]	noncoding	Benign
11	72235347	TC	T	C72235349T	INPPL1	NM_001567.4(INPPL1):c.2557del:p.Phe852_Leu853insTer	coding	Pathogenic
11	72235760	T	TA	G72235762A	INPPL1	NM_001567.4(INPPL1):c.2738+8dup	noncoding	Benign
11	72237164	GC	G	C72237171A	INPPL1	NM_001567.4(INPPL1):c.2927del:p.Pro976fs	coding	Pathogenic
11	72237164	G	GC	A72237172C	INPPL1	NM_001567.4(INPPL1):c.2927dup:p.Pro977fs	coding	Pathogenic
11	72238049	G	GC	T72238052C	INPPL1	NM_001567.4(INPPL1):c.3562dup:p.Leu1188fs	coding	Pathogenic
11	72293587	GC	TT	G72293587T	CLPB	NM_001258392.3(CLPB):c.1813_1814delinsAA:p.Ala605Lys	coding	Pathogenic
11	72294239	A	ATG	G72294248T	CLPB	NM_001258392.3(CLPB):c.1680+78CA[5]	noncoding	Benign
11	72294936	GGGAGA	G	G72294945A	CLPB	NM_001258392.3(CLPB):c.1487-248_1487-244del	noncoding	Benign
11	72294937	G	GGAGAGGA	G72294948A	CLPB	NM_001258392.3(CLPB):c.1487-251_1487-245dup	noncoding	Benign
11	72301838	C	CT	G72301840T	CLPB	NM_001258392.3(CLPB):c.1293dup:p.Asp432fs	coding	Pathogenic
11	72373006	G	GT	C72373008T	CLPB	NM_030813.6(CLPB):c.654dup:p.Gln219fs	coding	Pathogenic
11	72577605	AT	A	T72577606G	PDE2A	NM_002599.5(PDE2A):c.2616-12del	noncoding	Benign
11	72577606	TG	T	G72577612C	PDE2A	NM_002599.5(PDE2A):c.2616-13del	noncoding	Benign
11	73959748	TTATTA	T	A73959750T	DNAJB13	NM_153614.4(DNAJB13):c.334+95_334+99del	noncoding	Benign
11	73959750	ATTATT	A	T73959762A	DNAJB13	NM_153614.4(DNAJB13):c.334+96TTATT[2]	noncoding	Benign
11	73964812	TGC	T	G73964823A	DNAJB13	NM_153614.4(DNAJB13):c.335-65GC[5]	noncoding	Benign
11	73964815	G	GCGCGCCCC	G73964821C	DNAJB13	NM_153614.4(DNAJB13):c.335-58_335-57insCCCCGCGC	noncoding	Benign
11	73964815	G	GCGCGCGCCCC	G73964823C	DNAJB13	NM_153614.4(DNAJB13):c.335-56_335-55insCCCCGCGCGC	noncoding	Benign
11	73965245	G	GT	G73965247T	DNAJB13	NM_153614.4(DNAJB13):c.492+211dup	noncoding	Benign
11	73969745	TAAAC	T	C73969749G	DNAJB13	NM_153614.4(DNAJB13):c.798-212_798-209del	noncoding	Benign
11	74001663	G	GTC	T74001677C	UCP3	NM_003356.4(UCP3):c.825-149GA[7]	noncoding	Benign
11	74001725	G	GA	C74001735A	UCP3	NM_003356.4(UCP3):c.825-208dup	noncoding	Benign
11	74033834	C	CCTT	C74033839T	C2CD3	NM_001286577.2(C2CD3):c.6323_6325dup:p.Glu2108dup	coding	Benign
11	74037336	T	TA	G74037352A	C2CD3	NM_001286577.2(C2CD3):c.5881+127dup	noncoding	Benign
11	74042223	CAA	C	A74042241G	C2CD3	NM_001286577.2(C2CD3):c.5496-7_5496-6del	noncoding	Benign
11	74042223	CA	C	A74042242G	C2CD3	NM_001286577.2(C2CD3):c.5496-6del	noncoding	Benign
11	74042223	C	CA	G74042243A	C2CD3	NM_001286577.2(C2CD3):c.5496-24dup	noncoding	Benign
11	74042360	C	CT	C74042362T	C2CD3	NM_001286577.2(C2CD3):c.5496-143dup	noncoding	Benign
11	74048294	AT	A	T74048295A	C2CD3	NM_001286577.2(C2CD3):c.5405del:p.Tyr1802fs	coding	Pathogenic
11	74054507	GAAAAAAAA	G	A74054525G	C2CD3	NM_001286577.2(C2CD3):c.5155+92_5155+99del	noncoding	Benign
11	74054507	GAAA	G	A74054530G	C2CD3	NM_001286577.2(C2CD3):c.5155+97_5155+99del	noncoding	Benign
11	74054507	GA	G	A74054532G	C2CD3	NM_001286577.2(C2CD3):c.5155+99del	noncoding	Benign
11	74054507	G	GA	G74054533A	C2CD3	NM_001286577.2(C2CD3):c.5155+75dup	noncoding	Benign
11	74085142	A	AT	G74085158T	C2CD3	NM_001286577.2(C2CD3):c.3911-187dup	noncoding	Benign
11	74092775	C	CCT	G74092776C	C2CD3	NM_001286577.2(C2CD3):c.3345-188_3345-187insAG	noncoding	Benign
11	74094199	GT	G	T74094217A	C2CD3	NM_001286577.2(C2CD3):c.3161-201del	noncoding	Benign
11	74095430	CT	C	T74095431G	C2CD3	NM_001286577.2(C2CD3):c.2980-23del	noncoding	Benign
11	74100546	T	TGGAGG	A74100555G	C2CD3	NM_001286577.2(C2CD3):c.2706_2710dup:p.His904fs	coding	Pathogenic
11	74106385	A	AT	G74106387T	C2CD3	NM_001286577.2(C2CD3):c.2070dup:p.Phe691fs	coding	Pathogenic
11	74113679	CAA	C	A74113699G	C2CD3	NM_001286577.2(C2CD3):c.1843+99_1843+100del	noncoding	Benign
11	74113679	CA	C	A74113700G	C2CD3	NM_001286577.2(C2CD3):c.1843+100del	noncoding	Benign
11	74113679	C	CA	G74113701A	C2CD3	NM_001286577.2(C2CD3):c.1843+80dup	noncoding	Benign
11	74114212	ATACT	A	T74114220A	C2CD3	NM_001286577.2(C2CD3):c.1730+168_1730+171del	noncoding	Benign
11	74122912	C	CTGTCTGGCAAGTGA	A74122917T	C2CD3	NM_001286577.2(C2CD3):c.1365+75_1365+76insGACATCACTTGCCA	noncoding	Benign
11	74133518	A	AC	A74133521C	C2CD3	NM_001286577.2(C2CD3):c.994dup:p.Val332fs	coding	Pathogenic
11	74138970	G	GT	A74138978T	C2CD3	NM_001286577.2(C2CD3):c.708-4dup	noncoding	Benign
11	74139909	TAATGTCCCCCATTCCCTACAGGATTGTAAGG	T	C74139928G	C2CD3	NM_001286577.2(C2CD3):c.484-112_484-82del	noncoding	Benign
11	74168079	C	CA	C74168082A	C2CD3	NM_001286577.2(C2CD3):c.325+263dup	noncoding	Benign
11	74170740	C	CT	G74170748T	C2CD3	NM_001286577.2(C2CD3):c.52dup:p.Arg18fs	coding	Pathogenic
11	74171045	T	TG	C74171052G	C2CD3	Single_allele	noncoding	Benign
11	74336824	A	AT	A74336831T	PGM2L1	NM_173582.6(PGM2L1):c.1767-76dup	noncoding	Benign
11	74351303	ACACTTTTTAT	A	C74351314T	PGM2L1	NM_173582.6(PGM2L1):c.749+70_749+79del	noncoding	Benign
11	74467277	CT	C	T74467278C	KCNE3	NM_005472.5(KCNE3):c.-190+120del	noncoding	Benign
11	74492549	G	GA	C74492550A	LIPT2	NM_001144869.3(LIPT2):c.467-186_467-185insT	noncoding	Benign
11	75554406	ATCAGCTATGGGCTCCTCCCCCATCACACACACATGGGCACACAGACACACACAGACCCAGCCAACAGCGCTGGGTGCTTCCATGAAAGGCGTGTTTCCCTCCTGAGTCAGAGCAGACCCCGAACAGACAGCCTTTGGGCCTGGCTGGGCTGCAGTCCCAGAGCTCTAGGCGGCCCTGAGAGCCAGCCCCCTCCCTGCTGGAACCTCTGGGCAGCAGCCAGCACAGCTGCATCCCCTCAGCAAGGCCTGCAACGATAGGCCCACGTTGCATCAGCTCGGCCTGTCTCTGGGCCTGCTCCGGCCCCAACAGCCAATGGGGCCCGGCCGAGTGTACAGACCCCAGCACTGGTCCAGCCCACCCCACCACCATCACCGTGCGGCCGCCTGGTCCTCCTTCGCTCTGGGCTAGGAGGAGGGCACCGCTGCTCCATCGCCTGTGGCATGGCCCTCTCTCTGTGCCCCTGCCCCCACCAGTGGCTCTGCCAGCTCAGCCTTGGTTTCCCTTCCGGGAGGTAGCAGGGTCACCCCTTGGCCTGGCGTGGGCCCATTTCTCCACAGCCTCTGTTCTCCTCAGGCTCTGTGCTTGCTCTGATCCGCATCTTTCACCTGTGGCATCTTTCAGTTACTCTCCTATAACCATGATTCACAAATTGTCATCTTTGGACAGGCCTTCTCTCCTGACAGAATTACGGACATTACAGCCTCCTGATGTCTCCAGTCTATGGAGCCCACCAGCTTCCCCCAGAGCTCACTGCCTTCCCCCAGAGTCTCCATTGCAGGAAAGGGACCATTTGCCACTTGTTCACCAGGCCAGACACCAGAGAGTCCTCCTTCCCCCTTCTCCCAGGCCCTCCGTGCCCAACCCACCGCCACTGGGCCCTCTCCAGCCCGAGGCCCCTGCCTGGTCTGGGCACCAGCATCTCTCTCCAGGTTACCGAGCCATTCTCTCCTCTGGCCTCCCTCTCTCGCTCTCCATGCAGCAGGCAGAGAATGCAAAAACGCAGGGTGACCTGTCACCAACTTCCACAGCTTTAGTCACACGTACCCCCCTCCCATGGTGGCCTCTGTGGGGTCTCGTGCCTACCCTCCCCTGGCTGCGTCCCATGAAATCTTGCCAGGATTTGGCTCTTTAGCCTGAGGCCTAAAGCCAGCAGGTCTGGGCTGGTGGGAAATGCCAGACCTGGCCAGAGGAGCCACAGCCCCAGCCTCCCACCTTCCCCAGGGTTGCAGCGCAGTATCTCTGAGCCCCAGGCTCAGCACCACCACTTCCCCAGCCACCCTCGGACAAGCCCCCTTCAGGCTGGAGCTTGATACCCTTCTGGGTGTTTCTTTTCTATTCACTTGGTTGATTTTTTTTTTTTTTTGGCTGACTATAAAAGTAATATATGCTATTGAAAACAATTCAGAAAAGCAGAGAAAAGAAAATAAAGATATATATATTCTATCTCCAAAGATAAACACTATTAAACGATGTAAGAGTATTTCTTTCTAGCCTTTCTCTATGAATATTTTATATACCTATGTATTTTGTATTAATACATATACTATACATTCATTCAATAAAAAACCCATGCTGGGCGCAGTGGCTCACACCTGTCATCCCAGCAGTTTGGGAGGCCAAGGCGGGAGGATCGCTTGAGCCTTTGGAGTCCAAGACCAGCCTGGGCAACATGGGGAGACCCTGTCTCTACAAAATTAAAACATTAGCCACGGTTGGTGGCGTACACCTGTGGTCCCAGCTACTTGGGAGGATGGCTTGAGCCCATGACATCTAGGCTGCAGTGAGCCATGTTTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTCTGTTTCTAAATAAATAAAAAATAAATAACCCCAAATCTTTTAATAGCAGAAACTTTTAAAAAATTAAGTGAAAATCACCCCAAAACCAGCATTAACTTTTTGGTGAAATGTGAACATTCTTCCAGATATCTGCAGCTCTCCCGTGGAATTTTCATCAACAGGCTGTTTCATAAACGGCTTTATTTTTTATCCAACAATCCACCAAGCGATCTTTCTGTGCCTGGGGATTACAACAAGCTTTCCCCTTTTTGACATCTGCAAATACTTCATCCCTTATTGACCTTCTCTCCAATTTTTTGTTATTACAGACAAGGCTCTGAAGAACATCCTTCTGCATATATCTATGCTCATATTTTTAAACATCATTTCCTTAAGTGAAATTTCTAAAAATTGATTTTTTTCCAAAAGAACATGAATAATTTCAAATTGTGAAAATGTGTAAATAGGTAATGTACGCTCTGCACGCTGCTCTTCCACTCTAACACCAAATTCAGTATCAGGACATAAGAACTTCCTGGCTTTTTGTTTTTTTCCAGCTTCATGGTATTCTCAACCCCTATGGCTGGACAATTAGGTTGTTTCTGATTTTTGCTATTATAAATAGTGTTGCAGGGAATTATTCAATAACATATTTTTATTTAAAAGTGCCAACCACCTTCTAGAAAGCGTGTGCCAATTTTTCCTCCTGCCAGGAGTGTGTACAAATACTTTTACCTGTTTAAAATTAAATCCTTCAAACTCTTCCAGACTCAGCCCATATCCCATGTTACAGATGAGGAAATTGAGGTGCAGAGAGGTGCAGTGACTTTCCAAGGTCACCAGGGACAGATCCCAACACAAACTTTCTGACTCCCAGGCTGGGCTTCTCCTGCTTTGCCAGACTACTATCCTCTGCCTGTGCCTCCCCAGGGAAGTCCCCACTCCAGTCACAGCCCTTTGTTAGCGTCGTGTGTATGTGCAAGGTGAGGTGTGACTGGAACTGATGGGACAGCGCTCAGAGGACAGAGCAGGAATGGTCAGAGGACAGGGAAGGAATGGTCAGAGTGGCGTCTACGGGTTGTGTAAGATTTGACCAGTTGGTGAAGATGTGAGCAGAGGTGTGGAGTGGAGAGCCTAACATCACTTAGTGTTCACAAAGTCCTCTGCTATTCATTATTTTATCTGTGTGTCTCATCATCCTGCAGACTATCAGTCCTATTTTACAGAGGGGTAATTTAAATCATGGGTACATAGCCAAGAAGTGGCAGACCTGGGGCAGGATCCCAGGTCTCCTAACCCCCAAGTGAGGGCATTTCACACTCCATAGCACAGCAGGGCTGAACTGGGCTGAAGCAGATTAGAGGTGGTTTGGCAGGGTGTAGGGGGTGGTCAGAGCTCAGGAGTCCCTTTTCTGAGTGTCAGGGATGCTAAGACAAGGGAGGACAGCCCTGTAGCCCACCTGGGCATCACTGTTATTACAGGCTCAGCAGCACCTAAGGGAGAGGAGAACAAGACGGGAAGGGAAAGGCAGGGCTGTAGTTAACACACATCCTCCATCCCACCAGCCCTTCAGGCCTGGTCTTGCAGGCACTGGAGCTGGTTCCATGGGTTGCCAGAGGAAGCCTGAGAGAGGGAGGCTGGGAGAGGGGGCGGGGAACCTGATCCTGTGTATATGTCAATACCCAACAAAAACTTGTGTAGGGGGGTGGGGTGCATTTGGGTTACTGGAGTTACACAGACATGTGTGTACATGGATTGTGTGAAGGGGCTGCTCAAGTGCCGTGTGTGCACCATGTATGTGGGTGCACATACGCCTGTGTATATAGCGAGTCAGTGGGCTTGTGTCTCCTGGGTATTGTGCCAGGCATGTGGGTGAAGGCGCTGGAGTTCCTATGTGGCTTCGCTCAGCACCAGGATTGCAGACGGGTAGGGGCGGGCCTGCTCTGGGAGGAGGAGGGGAGGAATCATGTGCCCACCCACCCCCACATGGACCGGCTGCCCACCCTCCAACGTGGCAGCACGCAGGACAGCCCTTTTTGGATGGAAGGCCCCACGCTCCAAGAGAGAGAATCCAAGATTACAGAAATCGTGTTTTCCTGACTCATGCCTTGGGCTGAGAGCACATTCTTGGCTCCTGGACAGCATCTCAAAGAAGAGCTGCCTATAGCAGCCCTGGCTCCCTGAGGGAGGGGGCCGACCCTGGACTGGCTGTCGGAGCTTTCTGGGCTCCAATTTTATACCAATGTAAAAAGAAGGGGATTAAACTTCCTTCCGATTAACGTTCTATAATTAAAAGTGAGACACTAATGACGGTGCCCAGCACAGGCCTGGCAGCGGCAAAATGGCCCATAAATGTCACTTCCTTCTCGTCCACTCCCTGCCTTCCCGTGGATATGGCATAAACAGACCTGATTCAAAACCCAGCTCTGACTCTGGCTTGTTGTGTGCCCTTAACCCTGTTGCTTAGTCTCCCTGATCCTCAGTTTCTTCATGCTGAAAATTGGAACATTCTTCCTTACCTGAAAGGAATAAATATGATAATAAATGTGAATGTGTTGCACACTTAAATGACATGCAAGTTTTTGTCCTAGGATTCTATGGGGTGAAGACTGAGTGAATCTAGCCACTGGGGCCAAAGAAAGCTGTTTCCACAGCACCTGGCAGAACTGGGCCTACATACCCCCCTGGGTCATTAGAGGGTACTGTGGGAGAAAGAGGGCTGGGAGTCCAGGGCTTAGGCTCCAGCCCAGCCCCACCTCTGATATGCTGTGTGACCTTGGGTAAATTCCTGCCCTCTCTGGGCTTCCGTTGTCCTCTCTGTATAGTGTGGATGCAGTTGGACTTGATGGTTTTCTACTTTCTGCTGTCCACACCTCTCGGGACCTAGGGATCTAGAGGATTTCCAGCCAGCCTCCACGTGCCAGGCACCAGGACCACTTCCTTCAGTGAAGCGAGGCACTGGAGGAGTCCAGAGACAAAATGCTTGAGAGTTTCTCTGCTTATCAGACTCTTCTCCCCCACCCCCTAAAAGAGTGCTTTTTCCGGAAAGCTCTGCCTGGAATGTGGGGGAAGGGCCACAGTCAGTCTGGGCTGGGCTCAGAGCTAAGAATATTGTGGCAAAGGCTCTTGACTTTTTTTTTTTTTGCTGATCTTGGAAATTTAAAGGAGCCGTTGCTTTCCCTTCTTCAGGGAGGCTGTGCTAGGGGCACAGCAGCCTCAGGCAGCCACTTCTCATCCCCTGGCCAGCCATGCTTACCCAGTGCCTCTTCCATACTGTCCCCTTGCTGGAGCTGGGGACTCACAGTGACAAGGAAAAGGCCCTGCCCTTCCAAAGTCTCCAGTGATGGTTCACTGACAATACAGGGTGATAACAGAGATAATGCAGCAGTGGGATAGGTCACAGAGGAGGCTTCTGACCCGGTGTGAGATTAGTGGGGGTCGGATGGGGGTTGGGCCTTCAGAC	A	T75554407C	SERPINH1	Single_allele	noncoding	Pathogenic
11	75566995	G	GTCC	C75567011T	SERPINH1	NM_001235.5(SERPINH1):c.622+25TCC[6]	noncoding	Benign
11	77015004	T	TC	A77015012C	ACER3	NM_018367.7(ACER3):c.498-5dup	noncoding	Benign
11	77142760	A	ATCGGGGCGGTGGTGAAGCTCTGCGAC	T77142789G	MYO7A	NM_000260.4(MYO7A):c.73_98dup:p.Gly34_Gln35insArgTrpTerGly	coding	Pathogenic
11	77147888	G	GA	C77147890A	MYO7A	NM_000260.4(MYO7A):c.224dup:p.Asp75fs	coding	Pathogenic/Likely_pathogenic
11	77155977	TC	T	C77155979G	MYO7A	NM_000260.4(MYO7A):c.358del:p.Arg120fs	coding	Pathogenic
11	77156675	CGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGA	AG	C77156675A	MYO7A	NM_000260.4(MYO7A):c.486_593-20delinsAG	coding	Pathogenic
11	77157335	G	GGATCA	A77157343T	MYO7A	NM_000260.4(MYO7A):c.795_799dup:p.Lys267fs	coding	Pathogenic
11	77157372	GACTACAACT	G	A77157376T	MYO7A	NM_000260.4(MYO7A):c.833_841del:p.Tyr278_Tyr280del	coding	Pathogenic
11	77158275	AG	A	G77158278T	MYO7A	NC_000011.9:g.76869322del	noncoding	Pathogenic
11	77159499	GGCCACAGCTGCATCCCT	G	C77159502T	MYO7A	NM_000260.4(MYO7A):c.1059_1075del:p.Ala353_Thr354insTer	coding	Pathogenic
11	77160167	A	AC	A77160174C	MYO7A	NM_000260.4(MYO7A):c.1091dup:p.Asp365fs	coding	Pathogenic
11	77161124	TG	T	G77161128C	MYO7A	NM_000260.4(MYO7A):c.1343+13del	noncoding	Benign
11	77163103	C	CATAT	G77163120A	MYO7A	NM_000260.4(MYO7A):c.1690+116AT[10]	noncoding	Benign
11	77163103	C	CAT	G77163120A	MYO7A	NM_000260.4(MYO7A):c.1690+116AT[9]	noncoding	Benign
11	77166079	AC	A	C77166082T	MYO7A	NM_000260.4(MYO7A):c.1717del:p.Leu573fs	coding	Pathogenic
11	77166102	GCTGGTCCA	G	G77166105C	MYO7A	NM_000260.4(MYO7A):c.1740_1747del:p.Val581fs	coding	Pathogenic/Likely_pathogenic
11	77172739	TC	T	C77172745A	MYO7A	NM_000260.4(MYO7A):c.1798-3del	noncoding	Benign
11	77172741	CCCCCAGGGC	ATCGGCTGCT	C77172741A	MYO7A	NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT	noncoding	Pathogenic/Likely_pathogenic
11	77172746	AG	A	G77172749C	MYO7A	NC_000011.9:g.76883793del	noncoding	Pathogenic
11	77172778	C	CTTAG	C77172783T	MYO7A	NM_000260.4(MYO7A):c.1829_1832dup:p.Ser611_Ser612insTer	coding	Pathogenic
11	77173082	CG	C	G77173088T	MYO7A	NM_000260.4(MYO7A):c.1935+203del	noncoding	Benign
11	77174854	C	CG	T77174856G	MYO7A	NM_000260.4(MYO7A):c.2035dup:p.Val679fs	coding	Pathogenic
11	77175406	A	AG	C77175409G	MYO7A	NM_000260.4(MYO7A):c.2131dup:p.Ala711fs	coding	Pathogenic
11	77175461	GA	G	A77175463G	MYO7A	NM_000260.4(MYO7A):c.2186del:p.Lys729fs	coding	Pathogenic
11	77179049	A	AC	A77179050C	MYO7A	NM_000260.4(MYO7A):c.2287_2288insC:p.Asn763fs	coding	Pathogenic
11	77179804	G	GC	G77179808C	MYO7A	NM_000260.4(MYO7A):c.2440dup:p.Arg814fs	coding	Pathogenic
11	77180262	T	TCTGCCAAATTATTTGG	A77180264T	MYO7A	NM_000260.4(MYO7A):c.2587-111_2587-110insTGCCAAATTATTTGGC	noncoding	Benign
11	77180442	CGCCAAGAAG	C	A77180449G	MYO7A	NM_000260.4(MYO7A):c.2662_2670del:p.Lys888_Lys890del	coding	Pathogenic
11	77180447	AG	A	G77180448A	MYO7A	NM_000260.4(MYO7A):c.2661del:p.Lys888fs	coding	Pathogenic
11	77181405	AG	A	G77181407A	MYO7A	NM_000260.4(MYO7A):c.2722del:p.Asp908fs	coding	Pathogenic
11	77181767	GTTTTTTT	G	T77181772G	MYO7A	NM_000260.4(MYO7A):c.2905-179_2905-173del	noncoding	Benign
11	77181769	T	TTTG	T77181772G	MYO7A	NM_000260.4(MYO7A):c.2905-180_2905-179insGTT	noncoding	Benign
11	77182234	A	AG	T77182237G	MYO7A	NM_000260.4(MYO7A):c.3108+82dup	noncoding	Benign
11	77182449	T	TC	T77182452C	MYO7A	NM_000260.4(MYO7A):c.3136dup:p.Leu1046fs	coding	Pathogenic
11	77182686	G	GA	G77182692A	MYO7A	NM_000260.4(MYO7A):c.3285+91dup	noncoding	Benign
11	77189371	GC	G	C77189372A	MYO7A	NM_000260.4(MYO7A):c.3532del:p.Gln1178fs	coding	Pathogenic/Likely_pathogenic
11	77189403	ATGCCCGG	A	T77189404G	MYO7A	NM_000260.4(MYO7A):c.3564_3570del:p.Ser1187_Tyr1188insTer	coding	Pathogenic
11	77189435	G	GT	G77189437T	MYO7A	NM_000260.4(MYO7A):c.3596dup:p.Cys1201fs	coding	Pathogenic
11	77190773	CG	C	G77190775C	MYO7A	NM_000260.4(MYO7A):c.3829del:p.Ala1277fs	coding	Pathogenic
11	77190879	GCCCGGAAGCACCTCCT	G	A77190901C	MYO7A	NM_000260.4(MYO7A):c.3924+31_3924+46del	noncoding	Benign
11	77192123	CA	C	A77192124G	MYO7A	NM_000260.4(MYO7A):c.3998del:p.Gln1333fs	coding	Pathogenic
11	77192149	CT	C	T77192150G	MYO7A	NM_000260.4(MYO7A):c.4024del:p.Trp1342fs	coding	Pathogenic/Likely_pathogenic
11	77194384	C	CA	G77194386A	MYO7A	NM_000260.4(MYO7A):c.4184dup:p.Tyr1396fs	coding	Pathogenic/Likely_pathogenic
11	77197591	AT	A	T77197593C	MYO7A	NM_000260.4(MYO7A):c.4436del:p.Phe1479fs	coding	Pathogenic
11	77197722	AGCCT	A	G77197723A	MYO7A	NM_000260.4(MYO7A):c.4441+125_4441+128del	noncoding	Benign
11	77198573	TAC	T	A77198574T	MYO7A	NM_000260.4(MYO7A):c.4521_4522del:p.Leu1508fs	coding	Pathogenic
11	77199734	A	AT	C77199737T	MYO7A	NM_000260.4(MYO7A):c.4770dup:p.Arg1591fs	coding	Pathogenic
11	77199762	AG	A	G77199766C	MYO7A	NM_000260.4(MYO7A):c.4800del:p.Leu1601fs	coding	Pathogenic
11	77201483	GGA	G	G77201486C	MYO7A	NM_000260.4(MYO7A):c.4891_4892del:p.Asp1631fs	coding	Pathogenic
11	77201511	CG	C	G77201514C	MYO7A	NM_000260.4(MYO7A):c.4919del:p.Gly1640fs	coding	Pathogenic/Likely_pathogenic
11	77201553	AT	A	T77201554G	MYO7A	NM_000260.4(MYO7A):c.4959del:p.Asn1653fs	coding	Pathogenic
11	77201633	A	AT	G77201636T	MYO7A	NM_000260.4(MYO7A):c.5040dup:p.Val1681fs	coding	Pathogenic
11	77203097	T	TC	A77203100C	MYO7A	NM_000260.4(MYO7A):c.5208dup:p.Lys1737fs	coding	Pathogenic/Likely_pathogenic
11	77204122	C	CGTCAACG	A77204130G	MYO7A	NM_000260.4(MYO7A):c.5374_5380dup:p.Glu1794fs	coding	Pathogenic
11	77205547	CG	C	G77205548C	MYO7A	NM_000260.4(MYO7A):c.5567del:p.Arg1856fs	coding	Pathogenic
11	77205556	CA	C	A77205557G	MYO7A	NM_000260.4(MYO7A):c.5576del:p.Gln1859fs	coding	Pathogenic
11	77206169	CCA	C	C77206172A	MYO7A	NM_000260.4(MYO7A):c.5712_5713del:p.His1904fs	coding	Pathogenic
11	77208477	C	CT	G77208480T	MYO7A	NM_000260.4(MYO7A):c.5906dup:p.Leu1969fs	coding	Pathogenic
11	77211188	AC	A	C77211189G	MYO7A	NM_000260.4(MYO7A):c.6089del:p.Thr2030fs	coding	Pathogenic
11	77211325	TGACTG	T	C77211328A	MYO7A	NM_000260.4(MYO7A):c.6228_6232del:p.Asp2076fs	coding	Pathogenic
11	77211328	C	CT	G77211330T	MYO7A	NM_000260.4(MYO7A):c.6229dup:p.Trp2077fs	coding	Pathogenic
11	77211569	AC	A	C77211571T	MYO7A	NM_000260.4(MYO7A):c.6237+234del	noncoding	Benign
11	77211878	GC	G	C77211880T	MYO7A	NM_000260.4(MYO7A):c.6297del:p.Phe2100fs	coding	Pathogenic
11	77211928	C	CGAGGT	A77211936G	MYO7A	NM_000260.4(MYO7A):c.6348_6352dup:p.Lys2118delinsArgTer	coding	Pathogenic
11	77211932	GT	G	T77211933G	MYO7A	NM_000260.4(MYO7A):c.6350del:p.Val2117fs	coding	Pathogenic
11	77212963	GC	G	C77212965A	MYO7A	NM_000260.4(MYO7A):c.6368del:p.Pro2123fs	coding	Pathogenic
11	77212971	TC	T	C77212974T	MYO7A	NM_000260.4(MYO7A):c.6377del:p.Pro2126fs	coding	Pathogenic
11	77213005	TG	T	G77213009T	MYO7A	NM_000260.4(MYO7A):c.6412del:p.Val2138fs	coding	Pathogenic
11	77213020	C	CG	A77213022G	MYO7A	NM_000260.4(MYO7A):c.6424dup:p.Asp2142fs	coding	Pathogenic
11	77243743	T	TA	T77243745A	GDPD4	NM_182833.3(GDPD4):c.1191dup:p.Ile398fs	coding	Benign
11	78100748	G	GT	C78100756T	ALG8	Single_allele	noncoding	Benign
11	78102951	CAA	C	A78102968T	ALG8	NM_024079.5(ALG8):c.1349+1027_1349+1028del	noncoding	Benign/Likely_benign
11	78104411	CAG	C	G78104413A	ALG8	NM_024079.5(ALG8):c.1219_1220del:p.Leu407fs	coding	Pathogenic
11	78106681	C	CATCT	G78106686A	ALG8	NM_024079.5(ALG8):c.1178+122_1178+125dup	noncoding	Benign
11	78112745	CG	C	G78112748A	ALG8	NM_024079.5(ALG8):c.802del:p.Arg268fs	coding	Pathogenic
11	78113717	AAAAAC	A	C78113722A	ALG8	NM_024079.5(ALG8):c.777+164_777+168del	noncoding	Benign
11	78113718	AAAAC	A	C78113722A	ALG8	NM_024079.5(ALG8):c.777+164_777+167del	noncoding	Benign
11	78113861	G	GAAAA	G78113879A	ALG8	NM_024079.5(ALG8):c.777+8_777+11dup	noncoding	Benign
11	78113861	G	GAAA	G78113879A	ALG8	NM_024079.5(ALG8):c.777+8_777+10dup	noncoding	Benign
11	78113861	G	GA	G78113879A	ALG8	NM_024079.5(ALG8):c.777+8dup	noncoding	Benign
11	78119417	TTTTTTTTTTAA	T	A78119427T	ALG8	NM_024079.5(ALG8):c.479-179_479-169del	noncoding	Benign
11	78119419	TTTTTTTTAA	T	A78119427T	ALG8	NM_024079.5(ALG8):c.479-179_479-171del	noncoding	Benign
11	78121509	T	TG	T78121514G	ALG8	NM_024079.5(ALG8):c.369-339dup	noncoding	Benign
11	78127327	TA	T	A78127338G	ALG8	NM_024079.5(ALG8):c.174+30del	noncoding	Benign
11	78127712	C	CTTTT	G78127728T	ALG8	NM_024079.5(ALG8):c.96-291_96-288dup	noncoding	Benign
11	78127712	C	CTTTTT	G78127728T	ALG8	NM_024079.5(ALG8):c.96-291_96-287dup	noncoding	Benign
11	78478163	AAT	A	T78478165G	NARS2	NM_024678.6(NARS2):c.959+273_959+274del	noncoding	Benign
11	78493027	CACAGAT	C	A78493030C	NARS2	NM_024678.6(NARS2):c.822+30_822+35del	noncoding	Benign
11	78493253	T	TA	T78493257A	NARS2	NM_024678.6(NARS2):c.690-61dup	noncoding	Benign
11	78559301	C	CAAA	T78559329A	NARS2	NM_024678.6(NARS2):c.594+211_594+213dup	noncoding	Benign
11	78559301	C	CAA	T78559329A	NARS2	NM_024678.6(NARS2):c.594+211_594+212dup	noncoding	Benign
11	78559301	C	CA	T78559329A	NARS2	NM_024678.6(NARS2):c.594+211dup	noncoding	Benign
11	78575154	AGATCAGTC	A	A78575156T	NARS2	Single_allele	noncoding	Benign
11	85631741	GC	G	C85631742A	TMEM126B	NM_018480.7(TMEM126B):c.137del:p.Ala46fs	coding	Pathogenic
11	85634121	CA	C	A85634123C	TMEM126B	NM_018480.7(TMEM126B):c.241del:p.Thr81fs	coding	Pathogenic
11	85634199	CAT	C	A85634202G	TMEM126B	NM_018480.7(TMEM126B):c.320_321del:p.Tyr107fs	coding	Pathogenic
11	85635424	T	TA	T85635429A	TMEM126B	NM_018480.7(TMEM126B):c.398-239dup	noncoding	Benign
11	86011195	G	GA	G86011205A	PICALM	NM_007166.4(PICALM):c.659-68dup	noncoding	Benign
11	86022772	C	CAT	G86022773A	PICALM	NM_007166.4(PICALM):c.350-304_350-303insAT	noncoding	Benign
11	86031175	CA	C	A86031179T	PICALM	NM_007166.4(PICALM):c.273+293del	noncoding	Benign
11	86250578	GT	G	T86250589G	EED	NM_003797.5(EED):c.267+141del	noncoding	Benign
11	86257340	CT	C	T86257358C	EED	NM_003797.5(EED):c.553-157del	noncoding	Benign
11	86264439	A	ATATT	T86264457A	EED	NM_003797.5(EED):c.726+177TATT[5]	noncoding	Benign
11	86268594	C	CGT	A86268627G	EED	NM_003797.5(EED):c.966+34GT[17]	noncoding	Benign
11	86268594	C	CGTGT	A86268627G	EED	NM_003797.5(EED):c.966+34GT[18]	noncoding	Benign
11	86268594	C	CGTGTGT	A86268627G	EED	NM_003797.5(EED):c.966+34GT[19]	noncoding	Benign
11	86268594	C	CGTGTGTGT	A86268627G	EED	NM_003797.5(EED):c.966+34GT[20]	noncoding	Benign
11	86268594	C	CGTGTGTGTGT	A86268627G	EED	NM_003797.5(EED):c.966+34GT[21]	noncoding	Benign
11	86268594	CGT	C	G86268625A	EED	NM_003797.5(EED):c.966+34GT[15]	noncoding	Benign
11	86951227	CTGTTGGAACACTTCTGCCA	C	T86951228C	FZD4	NM_012193.4(FZD4):c.1510_1528del:p.Trp504fs	coding	Pathogenic
11	86951375	T	TG	A86951378G	FZD4	NM_012193.4(FZD4):c.1380dup:p.Asn461fs	coding	Pathogenic
11	86951415	AG	A	G86951417A	FZD4	NM_012193.4(FZD4):c.1340del:p.Pro447fs	coding	Pathogenic
11	86951482	GT	G	T86951483C	FZD4	NM_012193.4(FZD4):c.1273del:p.Thr425fs	coding	Pathogenic
11	86951550	TC	T	C86951552A	FZD4	NM_012193.4(FZD4):c.1205del:p.Gly402fs	coding	Pathogenic
11	86952122	TG	T	G86952123T	FZD4	NM_012193.4(FZD4):c.633del:p.Leu210_Tyr211insTer	coding	Pathogenic
11	86954782	T	TG	T86954788G	FZD4	NM_012193.4(FZD4):c.285+18dup	noncoding	Benign
11	86955036	ACGCCCCCGGG	A	C86955047A	FZD4	NM_012193.4(FZD4):c.40_49del:p.Pro14fs	coding	Pathogenic
11	88296238	CA	C	A88296241T	CTSC	NM_001814.6(CTSC):c.783del:p.Phe261fs	coding	Pathogenic
11	88300839	GTTTC	G	C88300843T	CTSC	NM_001814.6(CTSC):c.642-198_642-195del	noncoding	Benign
11	88309143	T	TA	T88309148A	CTSC	NM_001814.6(CTSC):c.641+19dup	noncoding	Benign
11	88309248	T	TC	A88309251C	CTSC	NM_001814.6(CTSC):c.555dup:p.Thr186fs	coding	Pathogenic
11	88312647	C	CT	C88312651T	CTSC	NM_001814.6(CTSC):c.319-96dup	noncoding	Benign
11	88326526	T	TAA	T88326542A	CTSC	NM_001814.6(CTSC):c.318+8396_318+8397dup	noncoding	Benign
11	88326526	T	TA	T88326542A	CTSC	NM_001814.6(CTSC):c.318+8396dup	noncoding	Benign
11	88337930	ATT	A	T88337941A	CTSC	Single_allele	noncoding	Benign
11	89178168	CA	C	A89178169G	TYR	NM_000372.5(TYR):c.216del:p.Val74fs	coding	Pathogenic
11	89178172	GGT	G	T89178174G	TYR	NM_000372.5(TYR):c.221_222del:p.Val74fs	coding	Pathogenic
11	89178723	CCA	C	C89178726A	TYR	NM_000372.5(TYR):c.773_774del:p.Thr258fs	coding	Pathogenic
11	89191203	TTGTC	T	C89191207A	TYR	NM_000372.5(TYR):c.825_828del:p.Cys276fs	coding	Pathogenic
11	89191240	G	GT	C89191242T	TYR	NM_000372.5(TYR):c.859dup:p.Ser287fs	coding	Pathogenic
11	89191242	CTT	C	T89191244A	TYR	NM_000372.5(TYR):c.862_863del:p.Leu288fs	coding	Pathogenic
11	89191269	C	CT	A89191273T	TYR	NM_000372.5(TYR):c.890dup:p.Leu297fs	coding	Pathogenic
11	89227809	TTTTTAATGAACAGGA	T	T89227813G	TYR	NM_000372.5(TYR):c.1037-10_1041del	noncoding	Pathogenic
11	89227841	CT	C	T89227842G	TYR	NM_000372.5(TYR):c.1056del:p.Gly353_Ile354insTer	coding	Pathogenic
11	89284824	AG	A	G89284825A	TYR	NM_000372.5(TYR):c.1237del:p.Glu413fs	coding	Pathogenic
11	89490963	T	TCTC	T89490967C	NOX4	NM_016931.5(NOX4):c.57+224_57+226dup	coding	Benign
11	93784670	TCGGG	T	G93784672T	MED17	NM_004268.5(MED17):c.159_162del:p.Gly54fs	coding	Pathogenic
11	93793514	G	GT	A93793527T	MED17	NM_004268.5(MED17):c.638-202dup	noncoding	Benign
11	93793514	GT	G	T93793526A	MED17	NM_004268.5(MED17):c.638-202del	noncoding	Benign
11	93793746	AT	A	T93793747G	MED17	NM_004268.5(MED17):c.657del:p.His219fs	coding	Pathogenic
11	93793960	C	CAA	C93793966A	MED17	NM_004268.5(MED17):c.788_789dup:p.Gln264fs	coding	Pathogenic
11	93794116	GA	G	A93794122T	MED17	NM_004268.5(MED17):c.859+87del	noncoding	Benign
11	93794199	A	ATT	G93794222T	MED17	NM_004268.5(MED17):c.859+185_859+186dup	noncoding	Benign
11	93794910	T	TC	A93794915C	MED17	NM_004268.5(MED17):c.866dup:p.His290fs	coding	Pathogenic
11	93795042	ATC	A	T93795047A	MED17	NM_004268.5(MED17):c.999_1000del:p.Gln334fs	coding	Pathogenic
11	93796484	T	TA	G93796485A	MED17	NM_004268.5(MED17):c.1087_1088insA:p.Cys363Ter	coding	Pathogenic
11	93797587	CT	C	T93797591G	MED17	NM_004268.5(MED17):c.1200del:p.Phe400fs	coding	Pathogenic
11	93797590	TTGGCC	T	T93797591A	MED17	NM_004268.5(MED17):c.1200_1204del:p.Phe400fs	coding	Pathogenic
11	93801763	T	TGA	T93801764G	MED17	NM_004268.5(MED17):c.1329-72_1329-71insGA	noncoding	Benign
11	93801764	TTC	T	T93801765G	MED17	NM_004268.5(MED17):c.1329-70_1329-69del	noncoding	Benign
11	93801909	A	ATGATGTTTATGAATCTAGTGTGAAAGTTT	A93801940G	MED17	NM_004268.5(MED17):c.1405_1433dup:p.Leu478_Ile479insMetPheMetAsnLeuValTer	coding	Pathogenic
11	93809778	T	TGA	C93809782A	MED17	NM_004268.5(MED17):c.1648_1649dup:p.Ser550fs	coding	Pathogenic
11	93810178	AT	A	T93810179A	MED17	NM_004268.5(MED17):c.1744+303del	noncoding	Benign
11	94129088	TCCCGC	T	C94129105G	PANX1	NM_015368.4(PANX1):c.-223CCGCC[3]	noncoding	Benign
11	94437318	TTC	T	C94437320G	MRE11	NM_005591.4(MRE11):c.1868-85_1868-84del	noncoding	Benign
11	94456286	T	TC	A94456288C	MRE11	NM_005591.4(MRE11):c.1552dup:p.Glu518fs	coding	Pathogenic
11	94456515	TA	T	A94456526C	MRE11	NM_005591.4(MRE11):c.1501-178del	noncoding	Benign
11	94460981	T	TA	G94460985A	MRE11	NM_005591.4(MRE11):c.1280dup:p.Leu427fs	coding	Pathogenic
11	94467892	AT	A	T94467893C	MRE11	NM_005591.4(MRE11):c.1018del:p.Ile340fs	coding	Pathogenic
11	94478856	C	CA	G94478859A	MRE11	NM_005591.4(MRE11):c.422dup:p.Leu141fs	coding	Pathogenic
11	94492613	C	CA	G94492615A	MRE11	NM_005591.4(MRE11):c.20+168dup	noncoding	Benign
11	95818813	A	AT	A95818819T	CEP57	NM_014679.5(CEP57):c.622-9dup	noncoding	Benign
11	95836173	CTTATGTAAT	GG	C95836173G	MTMR2	NM_016156.6(MTMR2):c.1736_1745delinsCC:p.Tyr579fs	coding	Pathogenic
11	95841635	GAC	G	C95841639G	MTMR2	NM_016156.6(MTMR2):c.1459_1460del:p.Val487fs	coding	Pathogenic
11	95850636	CTT	C	T95850638A	MTMR2	NM_016156.6(MTMR2):c.766_767del:p.Lys256fs	coding	Pathogenic/Likely_pathogenic
11	95851031	G	GA	C95851035A	MTMR2	NM_016156.6(MTMR2):c.655-285dup	noncoding	Benign
11	95862223	CTACA	C	T95862224A	MTMR2	NM_016156.6(MTMR2):c.357+45_357+48del	noncoding	Benign
11	95865692	C	CA	G95865700A	MTMR2	NM_016156.6(MTMR2):c.187-17dup	noncoding	Benign
11	95887422	G	GA	C95887433A	MTMR2	NM_016156.6(MTMR2):c.186+724dup	noncoding	Benign
11	101453650	C	CT	C101453653T	TRPC6	NM_004621.6(TRPC6):c.2643dup:p.Gly882fs	coding	Pathogenic
11	101454831	AT	A	T101454839A	TRPC6	NM_004621.6(TRPC6):c.2568+186del	noncoding	Benign
11	101489381	TTAATC	T	T101489385A	TRPC6	NM_004621.6(TRPC6):c.1129-285_1129-281del	noncoding	Benign
11	101504954	GT	G	T101504956A	TRPC6	NM_004621.6(TRPC6):c.171-157del	noncoding	Benign
11	102083088	C	CGA	T102083089G	CFAP300	NM_032930.3(CFAP300):c.693_694insGA:p.Tyr232fs	coding	Pathogenic
11	102578800	A	AAAAC	A102578824C	MMP20	NM_004771.4(MMP20):c.1351+219GTTT[6]	noncoding	Benign
11	102594771	CAAA	C	A102594789T	MMP20	NM_004771.4(MMP20):c.954-17_954-15del	noncoding	Benign
11	102594771	CA	C	A102594791T	MMP20	NM_004771.4(MMP20):c.954-15del	noncoding	Benign
11	102608691	C	CAAA	C102608692A	MMP20	NM_004771.4(MMP20):c.811+245_811+246insTTT	noncoding	Benign
11	102608692	C	CA	G102608693A	MMP20	NM_004771.4(MMP20):c.811+244_811+245insT	noncoding	Benign
11	102608925	TAATAATCTTACCGT	CTGG	T102608925C	MMP20	NM_004771.4(MMP20):c.809_811+12delinsCCAG	noncoding	Pathogenic
11	102797872	CAA	C	A102797885T	MMP1	NM_002421.4(MMP1):c.105+114_105+115del	noncoding	Benign
11	102838730	CAG	C	A102838733T	MMP3	NM_002422.5(MMP3):c.1070-22_1070-21del	noncoding	Benign
11	102842383	TTTTTGTTTTG	T	T102842394C	MMP3	NM_002422.5(MMP3):c.499+28CAAAA[2]	noncoding	Benign
11	102843103	TA	T	A102843113C	MMP3	NM_002422.5(MMP3):c.106-188del	noncoding	Benign
11	102843103	T	TA	C102843114A	MMP3	NM_002422.5(MMP3):c.106-197dup	noncoding	Benign
11	102944373	G	GAA	G102944379A	MMP13	NM_002427.4(MMP13):c.1316-9_1316-8dup	noncoding	Benign
11	102947667	TTGTG	T	G102947703T	MMP13	NM_002427.4(MMP13):c.1211+186CA[17]	noncoding	Benign
11	102947667	T	TTG	T102947707G	MMP13	NM_002427.4(MMP13):c.1211+186CA[20]	noncoding	Benign
11	102947667	T	TTGTG	T102947707G	MMP13	NM_002427.4(MMP13):c.1211+186CA[21]	noncoding	Benign
11	102947667	T	TTGTGTG	T102947707G	MMP13	NM_002427.4(MMP13):c.1211+186CA[22]	noncoding	Benign
11	102947667	T	TTGTGTGTG	T102947707G	MMP13	NM_002427.4(MMP13):c.1211+186CA[23]	noncoding	Benign
11	102955284	AGT	A	G102955285T	MMP13	NM_002427.4(MMP13):c.328_329del:p.Thr110fs	coding	Pathogenic
11	102956022	AT	A	T102956035G	MMP13	Single_allele	noncoding	Benign
11	103113726	A	AT	A103113735T	DYNC2H1	NM_001377.3(DYNC2H1):c.366+27dup	noncoding	Benign
11	103117583	TA	T	A103117588T	DYNC2H1	NM_001377.3(DYNC2H1):c.767-43del	noncoding	Benign
11	103121038	T	TA	G103121043A	DYNC2H1	NM_001377.3(DYNC2H1):c.1360+6dup	noncoding	Benign
11	103124982	G	GT	A103124992T	DYNC2H1	NM_001377.3(DYNC2H1):c.1662-109dup	noncoding	Benign
11	103125366	C	CT	A103125386T	DYNC2H1	NM_001377.3(DYNC2H1):c.1857+90dup	noncoding	Benign
11	103125366	CT	C	T103125385A	DYNC2H1	NM_001377.3(DYNC2H1):c.1857+90del	noncoding	Benign
11	103125366	CTT	C	T103125384A	DYNC2H1	NM_001377.3(DYNC2H1):c.1857+89_1857+90del	noncoding	Benign
11	103152113	G	GT	A103152127T	DYNC2H1	NM_001377.3(DYNC2H1):c.2947-10dup	noncoding	Benign
11	103152113	G	GTT	A103152127T	DYNC2H1	NM_001377.3(DYNC2H1):c.2947-11_2947-10dup	noncoding	Benign
11	103152113	G	GTTT	A103152127T	DYNC2H1	NM_001377.3(DYNC2H1):c.2947-12_2947-10dup	noncoding	Benign
11	103154342	AGT	A	G103154351A	DYNC2H1	NM_001377.3(DYNC2H1):c.3303-108GT[4]	noncoding	Benign
11	103155311	CT	C	T103155323G	DYNC2H1	NM_001377.3(DYNC2H1):c.3574-8del	noncoding	Benign
11	103156262	C	CT	G103156275T	DYNC2H1	NM_001377.3(DYNC2H1):c.3745-114dup	noncoding	Benign
11	103156262	C	CTT	G103156275T	DYNC2H1	NM_001377.3(DYNC2H1):c.3745-115_3745-114dup	noncoding	Benign
11	103158814	GT	G	T103158820A	DYNC2H1	NM_001377.3(DYNC2H1):c.4260+11del	noncoding	Benign
11	103158976	CA	C	A103158977G	DYNC2H1	NM_001377.3(DYNC2H1):c.4328del:p.Gln1443fs	coding	Pathogenic
11	103166009	AC	A	C103166010T	DYNC2H1	NM_001377.3(DYNC2H1):c.4724del:p.Thr1575fs	coding	Pathogenic
11	103176367	AT	A	T103176368G	DYNC2H1	NM_001377.3(DYNC2H1):c.5808del:p.Glu1935_Tyr1936insTer	coding	Pathogenic
11	103186760	C	CAAA	G103186775A	DYNC2H1	NM_001377.3(DYNC2H1):c.6893+271_6893+273dup	noncoding	Benign
11	103186760	C	CAA	G103186775A	DYNC2H1	NM_001377.3(DYNC2H1):c.6893+272_6893+273dup	noncoding	Benign
11	103186760	C	CA	G103186775A	DYNC2H1	NM_001377.3(DYNC2H1):c.6893+273dup	noncoding	Benign
11	103191642	T	TTG	C103191663T	DYNC2H1	NM_001377.3(DYNC2H1):c.7540+24TG[11]	noncoding	Benign
11	103191642	T	TTGTGTG	C103191663T	DYNC2H1	NM_001377.3(DYNC2H1):c.7540+24TG[13]	noncoding	Benign
11	103215670	G	GTA	G103215672A	DYNC2H1	NM_001377.3(DYNC2H1):c.8695-50_8695-49insAT	noncoding	Benign
11	103223264	TAGA	T	A103223267G	DYNC2H1	NM_001377.3(DYNC2H1):c.9353+181_9353+183del	noncoding	Benign
11	103233828	T	TTA	G103233832A	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-204_9441-203dup	noncoding	Benign
11	103233830	A	ATATG	G103233832A	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-203_9441-202insATGT	noncoding	Benign
11	103233830	A	ATATGTG	G103233832A	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-203_9441-202insATGTGT	noncoding	Benign
11	103233830	ATG	A	T103233877G	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-203TG[23]	noncoding	Benign
11	103233830	ATGTGTG	A	T103233873G	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-203TG[21]	noncoding	Benign
11	103233830	ATGTGTGTG	A	T103233871G	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-203TG[20]	noncoding	Benign
11	103233867	TGTGTGTGTGTGG	T	G103233870T	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-164_9441-153del	noncoding	Benign
11	103233869	TGTGTGTGTGG	T	G103233872T	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-162_9441-153del	noncoding	Benign
11	103233873	TGTGTGG	T	G103233876T	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-158_9441-153del	noncoding	Benign
11	103233875	TGTGG	T	G103233878T	DYNC2H1	NM_001377.3(DYNC2H1):c.9441-156_9441-153del	noncoding	Benign
11	103236557	A	AT	A103236565T	DYNC2H1	NM_001377.3(DYNC2H1):c.9819+25dup	noncoding	Benign
11	103236557	AT	A	T103236564A	DYNC2H1	NM_001377.3(DYNC2H1):c.9819+25del	noncoding	Benign
11	103241629	CT	C	T103241630A	DYNC2H1	NM_001377.3(DYNC2H1):c.9820-2063del	noncoding	Benign
11	103241866	AAAT	A	T103241878A	DYNC2H1	NM_001377.3(DYNC2H1):c.9820-1826AAT[3]	noncoding	Benign
11	103243965	ATATT	A	A103243971G	DYNC2H1	NM_001377.3(DYNC2H1):c.9918+180_9918+183del	noncoding	Benign
11	103255628	A	AT	C103255638T	DYNC2H1	NM_001377.3(DYNC2H1):c.10326+103dup	noncoding	Benign
11	103260034	A	ATATTTATAGTTATATTTATAAATATATATATTTATAAATATATATATTTATAAATATAACT	A103260035T	DYNC2H1	NM_001377.3(DYNC2H1):c.10695+57_10695+58insTATTTATAGTTATATTTATAAATATATATATTTATAAATATATATATTTATAAATATAACT	noncoding	Benign
11	103304560	G	GT	A103304566T	DYNC2H1	NM_001377.3(DYNC2H1):c.11257-30dup	noncoding	Benign
11	103304736	T	TGTG	A103304739G	DYNC2H1	NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT	noncoding	Benign
11	103308105	AC	A	C103308107T	DYNC2H1	NM_001377.3(DYNC2H1):c.11493+276del	noncoding	Benign
11	103311588	G	GAA	C103311599A	DYNC2H1	NM_001377.3(DYNC2H1):c.11494-281_11494-280dup	noncoding	Benign
11	103311677	GTATT	G	T103311681A	DYNC2H1	NM_001377.3(DYNC2H1):c.11494-197_11494-194del	noncoding	Benign
11	103316844	CT	C	T103316846G	DYNC2H1	NM_001377.3(DYNC2H1):c.11725+226del	noncoding	Benign
11	103321216	AC	A	C103321218A	DYNC2H1	NM_001377.3(DYNC2H1):c.11915del:p.Pro3972fs	coding	Pathogenic
11	103436197	A	AT	A103436214T	DYNC2H1	NM_001377.3(DYNC2H1):c.12456+181dup	noncoding	Benign
11	103436197	A	ATTT	A103436214T	DYNC2H1	NM_001377.3(DYNC2H1):c.12456+179_12456+181dup	noncoding	Benign
11	103436197	ATT	A	T103436212A	DYNC2H1	NM_001377.3(DYNC2H1):c.12456+180_12456+181del	noncoding	Benign
11	103436197	ATTT	A	T103436211A	DYNC2H1	NM_001377.3(DYNC2H1):c.12456+179_12456+181del	noncoding	Benign
11	103455173	T	TC	T103455181C	DYNC2H1	NM_001377.3(DYNC2H1):c.12457-6dup	noncoding	Benign
11	107504977	CG	C	G107504982A	ALKBH8	NM_138775.3(ALKBH8):c.1675del:p.Arg559fs	coding	Pathogenic
11	107532476	TAG	T	A107532479T	ALKBH8	NM_138775.3(ALKBH8):c.772-72_772-71del	noncoding	Benign
11	108121635	GC	G	C108121636G	ACAT1	NM_000019.4(ACAT1):c.30del:p.Ser10fs	coding	Pathogenic
11	108132328	CATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAGAGAACTGTCACAGTGCTGTTTTATAGTATTCAAGAGAGCTTTTATCTTCTTTTGCTTAAAGTTCATATTATTGTCTTACTGTTTAAGAAATTATGGCTCTGGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCCACTAAAAATACAAAAAATTAGGTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGTTGAGATCACGTGCCTGCACTCTAGCCTGGGCAACAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTATGGCTCTGGCTGGGCACAGTGGTTCATGCCTGTGATCCCAGCACTTTGGGAGGCCAAAGTGCGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCGGGTGTGGTTGCAGATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAGATCATACCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAATTACATATAAAAAAAGAAATTCTGGCCCTGGCTCTGTCCTAGTTAAGTGGTATTGCCCCACCTAGGATACAGGTCTTGATTCCTAGCCAGAGTTCCTTTCAGTAAGGGACCCTCTTAGAGTTGTTTATTATGCAGTTAACAAGAGTAAAGTGGCTGAGTGTGGTGGCTCATACCCTTAATCCTAGCACTTTGGTAGGCTGAGGCAGAAGGATTGCTTGAGCTGAGGAGTTTGAGCTGCAATGAGCTATGATTGTGCCACTGCATTCCAGCCTGGGCAGCTGAGCAAGACCCTGTCTCAAAAACAAAAATACAAAAACAAACAAAAAAACAAGGTACAGTGATCATTTCTTGAATTTTGACTGAGGAATAGAAAGGAAACTTAAGCTTCTGTCCTCAAACCTCCTGTAGAGAACTGGGAAGGATCTACATCTGTTTTAGAGTTGGTTTCTATAAGGTCTTAAATCATAAAGCACTAGCATTGAACTGATTATCTTGACAGCTGTTCAACTATTGAGATTAATTTTTGATGACTCATTCATAGAAGTGTTTTTTTGATAATATATTTATGTTTATTTAATGAAATACGATTTGGGTAAAATACCTATAATTTTTACCATCTTGTGTCTTGCCAGGAAGTGGTCATAGTAAGTGCTACAAGAACACCCATTGGATCTTTTTTAGGCAGCCTTTCCTTGCTGCCAGCCACTAAGCTTGGTTCCATTGCAATTCAGGGAGCCATTGAAAAGGCAGGTCAGTAGTTACTTGGCTTTTTGTGTTAAGGGAGCAAAAAGATTCCATGGAAAAGATATTTATTTTGCATTAACTATGTATGTAACACTTAGAAATAACTTAATGCCTACATTTCTGCTTTCCCTTGTAAAGAAGTCTTTGTACTATACAGTTTAGATTGAAACTCAAAACTGACAAAAAAAAGAAACCATTCCTATTGTGTAATGTCACCTACCTTATTAGGTAATCACTGATTATTAAATTGAATTAAATGCCTTTTTGACTTTTTTTTTTTTTAATAAAGGGATTCCAAAAGAAGAAGTGAAAGAAGCATACATGGGTAATGTTCTACAAGGAGGTGAAGGACAAGCTCCTACAAGGCAGGCAGTATTGGGTGCAGGTACCTGGAAGACTTTTTTGCTTTTATACTTAAAATGTGTAAAAGGGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGCATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAACCTGGGCGACAGAGTGAGATTCTGTCTGAAAGAAAAAAAAAAAAAAAAAAAAAAGGCTGGGCATGGTAGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCCAGCACCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCCAGATCGCGCCACTGCACGCCAGCTTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTATAAAATGGCAAAATGAAGGTTATTTAAGCTTAAATGAAATATTAAATGCATGATATAATTTGTAGTTATATTGGCAGAAGAAATGTTGTAGTTTATAGTAACATGCTCTATTAAGTTCTGCAGTTGTGTTTGAGTATCGGTTTTTCAAAAGTGACTTATATTGGTTTTAGGCTTACCTATTTCTACTCCATGTACCACCATAAACAAAGTTTGTGCTTCAGGAATGAAAGCCATCATGATGGCCTCTCAAAGTCTTATGTGTGGACATCAGGTAAGAAACACCGTCCTTCCCATTTATTAATCAGAGTAATACCTAGGGCTAAAAGACACAAAAATCTAGGCATATTCATATTTTAGAAATGAGATTCTTTCTCATAAGTTAGTATGTTTTCTCACATGCTCAAGAGTGTCTGGATTTGCTAAGTCCATTTGAAGTATGGTCAAAATGATAGCGTAGGCTGGGTATCATGTCTGTAAGCACTTTGGAAGGTCGAGGCAGGAGGATCCCAGGAGTTTGAGACCAGCGTAGGCAACATAGCAAGCGAGACTCTGCTCTTTGAAAAAAAAAAAAGCCTAAGTGTCTTGTGTTACAAAGTTGTTTTTAGGCCCAGGCACAGTGGCTCACTCCTATAATCCCAGCACTTTGGGAGGCTGAGGCTGGGGGCAGATCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATTCCAGCTACTCGGGAAGCTGAGGCACAAGAGTCACTTGCATCTGGGAGGCAGAGATTGCAGTGAGCTGAGATTGTACCACTGCACTCCAACCTGGGAGATAGAGCAAGACTCTCAAAAAAAAAAAATTGTTTTTAGTCAAGGCATTTGGGTCTTTCTCTGAGGCTGGGTGACTAAAAATTCATAAATACTGTATTTGCCAGAATAAGACAGGTTTTCATTATAAAGGAGAACACGGTGCTTAACCCTGGGAATCAAATCATTGCTTGAGCCCAGGCTTGATGACTAATTTGTAGTCATTAAGTTAAGTTCTACAGGCTTTCTAATTAGCCTTGCTGATCTATATCTTGTCTTTACTTGAGATCAAGCAAGAGACAGGCTCCTTAGCAAAAATATGCTGTCATGTCAGGAGGTGAGACCTGGACACACAGAAGAATCAAGATTCTCTCAGATCTGAGCCCTTCATTTTTCAGATGAAGATTTTTTTCAGTGTGTCTGAGACAGCCACAGAGTTACAGGGCTGAGCATCTGCCATGTGACAGTCATTGGAAATAGAGTGGTGAACAAAACATTTAAAAAAATCTGTACATGTGCAGGTCTCTGTTGGAAAAATGCCTAAAAGAAATGCTGAGTCAGGATTTGAACATTTTGGTATTTGCAAATGCTTTCCATAAAAGTTGTACCAGTTAGACTTTCCAAAAATTGTGTGACTTGTCTGGATCTGCACCACCACTGGGTGGTACCAAACCCTTGTCAAACTGGTAGGTGAAAAACGGTCACCAGATTTAGTTTCAGAACTGTTTGTCATGGAAAGTTTTGTCTTAATTGAAGTATTGTGGTTCTCTAGCAAATGCCATTTGTACTATATTGAAATACTTTCATTTAATATTATTTTATTCATTTGTGGATATATACAGTGACTTATAGGCATTCTTGGAAGTGCTTTGTTTTGAATATTTATGACCTTAGAAAACAGTCAGTTTTACTTTATAATGAAGAATTGATACCTTATTTTCTGTCACTTATTATTGCCATCACCCCCAGTAAAAAGTACAAGTGAATAAAACTTAGATGAGAACTGATTAAGAATTTCTCTATTTCGGAATAGGCAAAATATTTATGTTTCTTTGGTATAGAGCTTGCTTGTCTGTATGCCTGATTAAAGACTGTAAGAAGATATTATTGGCTTTATGTTTACATTAATGTTTTATATTAAACTGTTTTTAACTAGCCCTTATAATGCAAGTGATTTTTTTTTGTTGACTTGTAAAGTAGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAAATAAATGGTCAAGGCAGACATGAAGTAGTGTTCTGATTAGTTTTAAGAGAAATGTAGGTGTTTTACATGTTGGTGGATGGGGAAAGTGCAGAGGTATGTGTGTGAAATGTGCATGGTGTCTCTGGAGAGCTTTAACTAGTTCCATGTGACCTGAGGTATAGGTTAGGCTGTGAGACTGAAAAAGGGGAGAGAAGGGATACTGTAAAGGCTTTATATATTATGCTGAGTTATCTAAGGTGCGAAATGATCAGACTTACATTCTAGCCAAAATGAGTCAGATGAGTGTTGATGATGCTTTGGTGGAAAGGCTGCATGTCAGAAGATCAAGTGGAAAATTATCTCAGCTGTCCAGGAAGAGATGATGAGGATCTCAGTCAAGGAAGTATGATTATTTTCATGAACTGAGATTACTTCTAATCTTCTAGAGCACATTAAATTTTTAGCAGCATGAATGAAATGAAGGGTTAGAAGTTAAGAATTTCAGGCCAGTCATGGTGGCTCACACCTGTAATCCGAGCACTTTGGGAGGCTGAGGTGGGCGGATCGCTTGAGTCTGGGAGTTTGAGACCGGCCTGGGTGATATAGTGAAACCCCATCTCTACTAAAAATATTATACAAAAATTAGCTGGGTGTGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAAAAGGCAGAGATTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGCGAGACCTGTCTAAAAGAAAATTTAAGAATTTCAGAAGATGGTTTTACATGAAAGATTTCTGGTATTTTTTTTTTAAAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCAAACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCAGCCCGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGTGCCCAGCCAGATTTCTGGTATTCTTATTAATGTCTGGTTGTGAACTTTTGAGACAGAGCCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAATCTCCGCCTCTACTTTTTTTTTTTTTCTTTTGAGGAGTCTTGCTCTGCCCCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACAGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTAGAAGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCGGATCCAGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGCCAACTTATTTCTCATTATATTATTTAACACCATTTCTTTTCATCAGGGTGAAGTGGTAAAGAGGGTACTTCCTGTATTCACTGTGTAACAAATGTTTAATAAATGCATGTAGAATACTTGTTTGGTGGTAGCTGTATAAAGGGTGTCATGGGTTTGCAAAATATTTGTATTAACATTGGGTTTTTCTGGTGTTTCTGCGCAGGATGTGATGGTGGCAGGTGGGATGGAGAGCATGTCCAATGTTCCATATGTAATGAACAGAGGATCAACACCATATGGTGGGGTAAAGCTTGAAGATTTGATTGTAAAAGACGGGCTAACTGATGTCTACAATAAAATTCATATGGTAAATGTGATTTTTAGTGGATAAATGCTATCTAATGTCCAATACTGTTTGATTTTTCTTACTCTATGTACTTTACAAACTGAACTGAAAGATGGGCTCTATAAATGTTGATTTTAGCCGTGTACTTTTGGAGAATATTTTTGTATGCCTATTGCATCGGCATGGCTCAGTCATTAAAGAAATTTTCCCACATTTAAATAGGGTAATTTCTGACGCTTAGCTGGCAACTGCTTGGCTAATTCAAGTATGTGAAGATAAGACATGAGTGGCTGGGTGCGGTGGCTCTGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGGGGTCAGGAGTTTGAGACCGGCTTGGCCAATGTGGTGAGACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGTGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCATTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGTCAAACTCCGTCTCAAAAAAAGACATGAGTGAAAAGTGACCTGGTATAGAAAGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGCCTAAGAAATATATTTTAAGAAACGTTAACTATTAAACACTATAAGTTAGGCAAAGTTAATAGATATTTTCTAAATTATGCAAAGTTAACTTTAAAATATTTCAACTTTTTATCAGGGCAGCTGTGCTGAGAATACAGCAAAGAAGCTGAATATTGCACGAAATGAACAGGACGCTTATGCTATTAATTCTTATACCAGAAGTAAAGCAGCATGGGAAGCTGGGAAATTTGGAAATGAAGTTATTCCTGTCACAGTTACAGTAAAAGGTAGAGATAATGTTCCAAAAAGGATGAATAGACTTTTCATGTTGCTGAATGTTTTATGCTTAAGTTTTAAATTAGGACATTATCTTGGTTCATTTCAACTGCTTATGGTTAATAAAAAGTGAAGAGTTGCCAGTTCAGAGAGAATATAAATCTACCCAACTTAATGTCAGATTTCAATCCATTTATAAGATCCCTGAGTATTACTTTAAATTTGAGAAATTTATTAGAACTTTTTCCTGTGACAGTCAATACGGTATTTTAAATTGAAAAGGGATTTACTAGAAGGTTACCGGGAGTGCCTCCAAGAACTGAAGGATGAACAGTAGCAACCATTCAGCTCTGGGAACTTCAGGGATTGGAACTGGGTGTTCACTACTACTAAGACATGCTCTCTTGGCTTCTCACACCTGCAGGCTTTTGTGCTTTATTCTCTCAGCCTTTCTAAAGTTGCTGCCTCTACCTCTAGGGTCACATATATAGGGTTCTCAAAAAGGAGAGACTTTCTCACCAGTTCCAGCAGAATAAATCCACAATGAAGACTCATTAACTTGCTTTAGGTTACAATTCTATTCCAGGAATGATTACTGTGCTCTAGGTGACAGAATACTAGAGCTTATCTAGTGTAGGTCAGACAGCTGCCTCTGGGGTCAGGAGAGTGGGGTCTGTGATCATAGAAGGGAGTTGAGGAAGAAAAGGGGACATGGAGGTGTAGAAGATTTAAATTTTGTGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACGAAGTGAGACTTGGCCTCCACACAAAAAAATTAAAAATTAGCTGGGTATAGCAGCACACGCCTGTAGTCCCAGCTACTAGGGAATCCAAGGCAGGAGGATCAATTGAGCCCAGGAGTCCGAGGCTGCAGTGAGCTAGGTTTGTAGCATTGCACTCTATTGGGAGACTGTGCAAGACCATTTCAAACAAACAAAATTAGCTGGCTGTGGTGGCTCCCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACATGGGCCTGGAGAGGATGAGGTAAACTGTGATCATGCCAGCCTAAGCAGGAGAGGGAAACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTGTGAAGCTACTTTGTAAGTTTCTCTTTTTAAGATGGTAACATAATAGAGGTTATAGTTAACAGATTCTAGATGAGTGTTTACTTGGGATGGTTTAAGTGAAGCAGGGATACAAAGGGAGGCACAGACTACTAGGCATCTT	TAA	C108132328T	ACAT1	NM_000019.4(ACAT1):c.120+374_731-68delinsTAA	noncoding	Pathogenic
11	108133832	G	GT	A108133834T	ACAT1	NM_000019.4(ACAT1):c.134dup:p.Ser46fs	coding	Pathogenic
11	108133928	GA	G	A108133932G	ACAT1	NM_000019.4(ACAT1):c.233del:p.Lys78fs	coding	Pathogenic
11	108134200	CT	C	T108134213A	ACAT1	NM_000019.4(ACAT1):c.239-8del	noncoding	Benign
11	108134200	CTT	C	T108134212A	ACAT1	NM_000019.4(ACAT1):c.239-9_239-8del	noncoding	Benign
11	108134232	GA	G	A108134234G	ACAT1	NM_000019.4(ACAT1):c.252del:p.Glu85fs	coding	Pathogenic
11	108134240	G	GA	G108134244A	ACAT1	NM_000019.4(ACAT1):c.261dup:p.Glu88fs	coding	Pathogenic
11	108135182	TTG	T	T108135185C	ACAT1	NM_000019.4(ACAT1):c.378_379del:p.Ala127fs	coding	Pathogenic
11	108138950	TGAACA	T	A108138953G	ACAT1	NM_000019.4(ACAT1):c.491_495del:p.Asn164fs	coding	Pathogenic
11	108138997	AT	A	T108138999G	ACAT1	NM_000019.4(ACAT1):c.537del:p.Ile179fs	coding	Pathogenic
11	108139029	TA	T	A108139033T	ACAT1	NM_000019.4(ACAT1):c.571del:p.Ile191fs	coding	Pathogenic
11	108140127	T	TGCTATTAATTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A108140141T	ACAT1	NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT:p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer	coding	Pathogenic
11	108141369	CAAAAA	C	A108141391T	ACAT1	NM_000019.4(ACAT1):c.731-214_731-210del	noncoding	Benign
11	108141369	C	CAAAAAA	T108141396A	ACAT1	NM_000019.4(ACAT1):c.731-215_731-210dup	noncoding	Benign
11	108141622	GT	G	T108141623G	ACAT1	NM_000019.4(ACAT1):c.749del:p.Val250fs	coding	Pathogenic
11	108141694	GA	G	A108141698T	ACAT1	NM_000019.4(ACAT1):c.824del:p.Asn275fs	coding	Pathogenic
11	108142455	A	AT	G108142457T	ACAT1	NM_000019.4(ACAT1):c.846dup:p.Ala283fs	coding	Pathogenic
11	108143935	T	TA	G108143947A	ACAT1	NM_000019.4(ACAT1):c.941-37dup	noncoding	Benign
11	108143957	A	AC	T108143970C	ACAT1	NM_000019.4(ACAT1):c.941-14dup	noncoding	Benign
11	108143957	AC	A	C108143969T	ACAT1	NM_000019.4(ACAT1):c.941-14del	noncoding	Benign
11	108144218	C	CA	T108144232A	ACAT1	NM_000019.4(ACAT1):c.1005+184dup	noncoding	Benign
11	108146044	GA	G	A108146056T	ACAT1	NM_000019.4(ACAT1):c.1006-146del	noncoding	Benign
11	108146321	T	TATCA	G108146328C	ACAT1	NM_000019.4(ACAT1):c.1128_1131dup:p.Gly378fs	coding	Pathogenic
11	108147278	G	GA	G108147280A	ACAT1	NM_000019.4(ACAT1):c.1173dup:p.Ala392fs	coding	Pathogenic
11	108158104	TAA	T	A108158106G	NPAT	NM_002519.3(NPAT):c.*836_*837del	noncoding	Benign
11	108227637	CTTAATGAT	C	T108227638C	ATM	NM_000051.4(ATM):c.14_21del:p.Leu5fs	coding	Pathogenic
11	108227639	T	TA	T108227642A	ATM	NM_000051.4(ATM):c.17dup:p.Asn6fs	coding	Pathogenic
11	108227651	T	CC	T108227651C	ATM	NM_000051.4(ATM):c.27delinsCC:p.Ile10fs	coding	Pathogenic
11	108227688	GA	G	A108227690C	ATM	NM_000051.4(ATM):c.66del:p.Glu22fs	coding	Pathogenic
11	108227692	GA	G	A108227695G	ATM	NM_000051.4(ATM):c.71del:p.Lys24fs	coding	Pathogenic
11	108227732	TAA	T	A108227733G	ATM	NM_000051.4(ATM):c.72+37_72+38del	noncoding	Benign
11	108227790	AT	A	T108227793A	ATM	NM_000051.4(ATM):c.90del:p.Phe30fs	coding	Pathogenic
11	108227797	CG	C	G108227798C	ATM	NM_000051.4(ATM):c.95del:p.Arg32fs	coding	Pathogenic
11	108227881	GT	G	T108227886A	ATM	NM_000051.4(ATM):c.183del:p.Phe61fs	coding	Pathogenic
11	108228154	TTTAG	T	A108228161C	ATM	NM_000051.4(ATM):c.185+273_185+276del	noncoding	Benign
11	108229166	GT	G	T108229170C	ATM	NM_000051.4(ATM):c.186-8del	noncoding	Benign/Likely_benign
11	108229187	G	GA	T108229191A	ATM	NM_000051.4(ATM):c.198dup:p.Tyr67fs	coding	Pathogenic
11	108229239	TC	T	C108229240A	ATM	NM_000051.4(ATM):c.248del:p.Val82_Ser83insTer	coding	Pathogenic
11	108229240	CA	T	C108229240T	ATM	NM_000051.4(ATM):c.248_249delinsT:p.Ser83fs	coding	Pathogenic
11	108229307	C	CA	T108229311A	ATM	NM_000051.4(ATM):c.318dup:p.Cys107fs	coding	Pathogenic
11	108229315	CAA	C	A108229317C	ATM	NM_000051.4(ATM):c.325_326del:p.Asn109fs	coding	Pathogenic
11	108229315	C	CA	C108229319A	ATM	NM_000051.4(ATM):c.326dup:p.Asn109fs	coding	Pathogenic
11	108229378	G	GT	C108229393T	ATM	NM_000051.4(ATM):c.331+69dup	noncoding	Benign
11	108229378	G	GTT	C108229393T	ATM	NM_000051.4(ATM):c.331+68_331+69dup	noncoding	Benign
11	108235719	AG	A	G108235720T	ATM	NM_000051.4(ATM):c.382del:p.Thr127_Val128insTer	coding	Pathogenic
11	108235740	TG	T	G108235741C	ATM	NM_000051.4(ATM):c.403del:p.Ala135fs	coding	Pathogenic
11	108235776	CAA	C	A108235778G	ATM	NM_000051.4(ATM):c.440_441del:p.Lys147fs	coding	Pathogenic
11	108235796	GA	G	A108235800T	ATM	NM_000051.4(ATM):c.462del:p.Lys154fs	coding	Pathogenic
11	108235828	TGGTTAGGTATGTTTTGAA	T	A108235833G	ATM	NM_000051.4(ATM):c.495_496+16del	coding	Pathogenic/Likely_pathogenic
11	108240422	GGATATGTTCTGAGAAATACATCATTAGGCAATTTCTTTGTTGCGTGAACGTCATAGGGTGTATTTATACAAACTTAGATGGTATAACACTACGCACCTAAGCTATATGGTATTACTGCTCCTGCACTACAAACCTGTGCAGCATGTTACTATACTGAATACTGTAGGCAGCTGTAACACAATGGCAAGTATTTGTGTCTCTAAACATATATAAACATAGAGGAGGTACAGTAAAAGTATAGTATAAAGGATAAAACATGGTACACCTGTCTAGGGCACTTAACCATGAATGGAGCTTGCAGGACTGGAAGTTGCTCTGGGTATGTAAATGTGTGGTAATGTAAAGGCCTGGGATACTATATACTACTGTAGAATTTGTAAACTCTTATTCTGTACCAAATTTAAAAATTTATGTTTTTCTTTCTTCAATACTAAAGTAACATTAGCTACTATAACTTTTTTACTTTATAAACTTTAAAAATGTTTAAACTTTTTGACTCTTTTGTAATAACACTTAGCTTAAAATACAAATGCATTGTACAGCTGTACAAAAATATTTTTTCCTTATATACTTATAGATGTTTTTTCTTTTGTTCTATAAGCTTTTTAAATGAAATTATTATTACTCTATTTTTTCCTTTAAACTTTTTTGTTGAAAACAAAGACACAAACACACACATGAGCTTAGGCCTACATAAGGTCAGGATCATCAGTATCACTGTCTTCTGTCCCTGCATCTTGTCCCCCTGGGAGATCTTCAGGGACATGCACAGAGCTTTCATCTCCTATGATAATGGTGCTTTATTCTGAAATACCTCCTAAAGGACCTACCTGAGACTGTTTTACTGTTTTGTTTTGTTTTGTTTTTTAAGAAGAAGAAGGAGGAATATAGTATAAAATGGTGATAAAAAGCATAGTAGAGTAAGTACATAAACCTAACATTTTACCAGTAACTTAGTCATTTATTATCATTATCAAGGTTTATGTACTATACATGATTGTATGTATTATACTTTTATATGACTGGCAGTGCAGTGGGTTTTTTTTACACAAGTATCACCACAAATGCTTGTGAGTAATTTCTTGTGCTATGACATCACTAAGTATTTAAATAGGAATTTTTCAGTTCTGATACAATCTTACGGTACCACCTTTTCATATTGCCATTTGTCATTGAATAGAATGTTGTTATGTAGTATGTGACTGTGGTTGGAATCATAACAGTATGTATCATTTTCAGATTGCCTTCTTTCATTTAGTAATATGCATTTAAGGTTCCTCCATGTCTTTCTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGGGCCTCACTCTGTCACCCAGGCTGGAGTGTGGTGGTGAGATCATGGCTCTGCAGCTTCGACCTCCTGAGCTCAAATGATCCTCCCACCCCCTTCCAAGTAGCTGTGACCACAGACACAAGCCATCACACCCTGCTAATTTTTCATTTTTAGTAGAGATAAGGTCTTATTATGTTGCTTATGCCAGCAGCTTGAACTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAACCACCGTTCTCAGCTCCTCGATGTCTTTTTATGGCTTGATAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGTCCAAATCTAGCCTGGGCAGTGTAGTGAGACTTCCGTCTCTTAAAAAAACAAAAAACAAAAAAAAGAGGACCAAAGTTACTGATATTAGAAATGAAATGAGATCTAATTGCAGATCCTATAGATATTCAAAGGATAATAAGGAAACACTATGAACATCTATTAATTTAAATGGGCCAGTTCCTCAAAACCATACATTATCAAAAGTCATCCAATATAAAATAGATAATTTGACTAGTCCCATAACTATTAGGAGAATAAATTGAATCCATAATTTAAAGCCTTTCATAAGACAAATTGGGAACAAGATAAGGATGTGCACTCTCACCACTCCTTTTCAACATTATGTTGGAGGTTCTAGCCAGGGTAGTTAGACAAGAAAAATAAAAGGCATACAGATTGGAAAGGAAGAAATAACACTCCCCTTTGTAGATGACATGATTGTCTATATATAAAGTCCCAATATACACAAGTATAACATTGTGAATAATGTTATTTGGGGACTGGGCACAGTGGCTTACACCTGTCATCTCAGCACTTTCGGAGGCTGAGGCAGGTGGATCATCTAAGGTCAGATGATGGCTTCCTCTAAAACAGGACAGATTTACTTGTAGCCTATTGATTATAAAAAGCTTGAGGTTTCTCTGTTATAACTCAGTCCACTGTTTTCGCAGTGTCAAGTGTCCCATTTCACCTTGCCTTTGGTACTGGGGAACTGATGCAAAAATGAAGGTAGTCTGGCTACCATCATTACTGGGAGAAATAAACTGTCCTTTTTCTCTTATCAGGAATCTCAGGTTTCCTGCTAGCACCCAGGAAACTGTCATGCTAATTTGTTAGGTTACAAGTAGATAAAATCTCAGCCAGGCACAGTGGCTTATGCGTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAATCCTGTCTCTACCTAAAATACCAATCAGTTGGGTGTGGTGGTGTGGGCCTCTAGACCCAGCTACTTGGGAGGCTAAGGTGGGAGGATTACCTGAGTCTGCTGAGATTGAAGCTACAGTGAGCCGTGATCTTACCACCACACACCAGTTTGGGTGACAGAGTAAGACTCTACCTCAAATAAATAAGAAACAAACCAAGCAGAGTAAAATTTCATACCCTTCATAGGTCTCAACACATTTTTTGCATATTATTAATCAAACAGTATTATTATTTTAAAAAACTGTGGAGGCCAGGCCCAGTGGCTCATGCCCATAATCCCAGCACTTTGGGAGACCAAGGTGGGTAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGACCAACACGGTGAAACCCCATCTTTACTAACAGTACAAAAATTAGCCAGGCATGGTTTTGTGCGCCTGTGGTCCCAGCTACTTGGGAGACTGAGGCATGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGGACGACAGAGCAAGATTCTGTCTCAAAAAACAGAAGAAAGAAAAACCCATGGAGCATGTACTGTAAGTGCTTTCTTAGGCCTAGATGATGGAACAGAGGCTTAGAGAAGTTAAGTAATGTTTCTGCGACCTGGCTCTTAAACTGGTGCTCTCACAGCAGTTTATAGTTATTCCTGTCTTAAAGGCATTTTATATAAGATAAAATTAAATACTGATGGAGTACTTTTACTATGTTAAAAATAAATTAGTGCAGTTTTAAAATCCTTTTTCTGTATGGGATTATGGAATATTTAAGTTAAATTGTAACATTTAATACATTTTGATTTTTAAAAAATCATGACTAATAATTTTTTTTTTTTTTTAAGAATTGTTCTCTGTGTACTTCAGGCTCTATCTGAAACCTTCACAAGATGTTCATAGAGTTTTAGTGGCTAGAATAATTCATGCTGTTACCAAAGGATGCTGTTCTCAGACTGACGGATTAAATTCCAAATTTTTGGACTTTTTTTCCAAGGCTATTCAGTGTGCGAGGTAATCTAATCTCTTTTTCTTTTGTTTTGTATTGAAATACTTTTGATCTTGCAAGACCATGTTTTAGACTCAGTAACTAAAAATTCTACCTTAAAATAAAACATTGATCCATCATAACAGAACTAGTGGATTCCTAAAGAGACAACCAAGTCCAACACTTTCTGAATATCCAATATGCAGAACACTACGTGAAGTTTTCAAGGGGGAGATGTGTCTTGCTGATGTTCTGTTGACCAGGAAAGTTAAATATCCTCTAAGTCATTGCATTTCCCCCATTTTGAGGATGGTTTTAATATACCGAGAATAAAATAAAATAGGAAAATATTTTGGAAGTATTACTGTTGTACATTAGTATGGCAGTACTCAATGTATAATGTGAAACATTTTATAAATGGTGTTACAAATCAGTTTTGTTTATTTTTATACAATGTTTTAGCAGGAGGGAGAGCTAACAGAAGTGGTCTCTTAACACCAAATAAGAACTAATTTTTTGTCAGTGTGAAGTAATGCTGTGATTTTTTTTTTTAATGAATAGTTTTGAAATTAA	G	T108240425C	ATM	NM_000051.4(ATM):c.497-3528_663-121del	noncoding	Pathogenic
11	108243934	AT	A	T108243949A	ATM	NM_000051.4(ATM):c.497-4del	noncoding	Benign/Likely_benign
11	108243957	GT	G	T108243959C	ATM	NM_000051.4(ATM):c.503del:p.Phe168fs	coding	Pathogenic
11	108243959	TC	T	C108243960T	ATM	NM_000051.4(ATM):c.504del:p.Ser169fs	coding	Pathogenic
11	108243972	CA	G	C108243972G	ATM	NM_000051.4(ATM):c.516_517delinsG:p.Phe172fs	coding	Pathogenic
11	108243984	G	GA	C108243988A	ATM	NM_000051.4(ATM):c.531dup:p.Pro178fs	coding	Pathogenic
11	108243994	CA	C	A108243996G	ATM	NM_000051.4(ATM):c.540del:p.Asp181fs	coding	Pathogenic
11	108244000	G	GT	C108244003T	ATM	NM_000051.4(ATM):c.546dup:p.His183fs	coding	Pathogenic
11	108244040	CCAAAGGATGCTGTTCT	C	A108244043G	ATM	NM_000051.4(ATM):c.587_602del:p.Lys196fs	coding	Pathogenic
11	108244062	TG	T	G108244063A	ATM	NM_000051.4(ATM):c.607del:p.Asp203fs	coding	Pathogenic
11	108244091	T	TG	T108244092G	ATM	NM_000051.4(ATM):c.635_636insG:p.Phe212fs	coding	Pathogenic
11	108244633	AT	A	T108244644A	ATM	NM_000051.4(ATM):c.663-144del	noncoding	Benign
11	108244789	CA	C	A108244791G	ATM	NM_000051.4(ATM):c.666del:p.Glu223fs	coding	Pathogenic
11	108244809	TCTA	CCT	T108244809C	ATM	NM_000051.4(ATM):c.684_687delinsCCT:p.Asn230fs	coding	Pathogenic
11	108244817	ATATCT	A	T108244820G	ATM	NM_000051.4(ATM):c.695_699del:p.Ile232fs	coding	Pathogenic
11	108244830	T	TC	T108244832C	ATM	NM_000051.4(ATM):c.706dup:p.Leu236fs	coding	Pathogenic
11	108244840	T	TAG	T108244841A	ATM	NM_000051.4(ATM):c.715_716insAG:p.Phe239Ter	coding	Pathogenic
11	108244850	C	CT	G108244854T	ATM	NM_000051.4(ATM):c.728dup:p.Leu243fs	coding	Pathogenic
11	108244877	TG	T	G108244878T	ATM	NM_000051.4(ATM):c.753del:p.Cys252fs	coding	Pathogenic
11	108244939	A	AATGATTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCT	A108244950T	ATM	NM_000051.4(ATM):c.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTATGATTCTTT:p.Leu275delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuTer	coding	Pathogenic
11	108244940	A	ATGATTCTTTAAAAG	A108244955T	ATM	NM_000051.4(ATM):c.816_829dup:p.Glu277delinsValIleLeuTer	coding	Pathogenic
11	108244949	TA	T	A108244953G	ATM	NM_000051.4(ATM):c.828del:p.Glu277fs	coding	Pathogenic
11	108245010	CA	C	A108245014C	ATM	NM_000051.4(ATM):c.889del:p.Thr297fs	coding	Pathogenic
11	108245020	G	GA	G108245026A	ATM	NM_000051.4(ATM):c.900dup:p.Gly301fs	coding	Pathogenic
11	108246979	CAA	C	A108246982T	ATM	NM_000051.4(ATM):c.920_921del:p.Lys307fs	coding	Pathogenic
11	108246993	A	ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	A108246998T	ATM	NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT:p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaSerAlaArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaLeu	coding	Pathogenic
11	108246994	T	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	A108246998T	ATM	NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTT:p.Leu312fs	coding	Pathogenic
11	108247005	TTA	T	A108247009G	ATM	NM_000051.4(ATM):c.947_948del:p.Leu315_Tyr316insTer	coding	Pathogenic
11	108247006	T	TA	T108247008A	ATM	NM_000051.4(ATM):c.945dup:p.Tyr316fs	coding	Pathogenic
11	108247028	GA	G	A108247029T	ATM	NM_000051.4(ATM):c.967del:p.Glu322_Ile323insTer	coding	Pathogenic
11	108247031	AAGTCATAT	A	T108247034G	ATM	NM_000051.4(ATM):c.972_979del:p.Ser324fs	coding	Pathogenic
11	108247040	AG	A	G108247042A	ATM	NM_000051.4(ATM):c.980del:p.Gly327fs	coding	Pathogenic
11	108247051	G	GA	G108247055A	ATM	NM_000051.4(ATM):c.992dup:p.Tyr332fs	coding	Pathogenic
11	108247094	TTTGA	T	T108247099A	ATM	NM_000051.4(ATM):c.1037_1040del:p.Ile346fs	coding	Pathogenic
11	108248888	CA	C	A108248902G	ATM	NM_000051.4(ATM):c.1066-31del	noncoding	Benign
11	108248888	C	CA	G108248903A	ATM	NM_000051.4(ATM):c.1066-31dup	noncoding	Benign
11	108248943	AAGATACCAGATCCTTGGAGA	TGTAAGG	A108248943T	ATM	NM_000051.4(ATM):c.1076_1096delinsTGTAAGG:p.Glu359_Ile366delinsValTer	coding	Pathogenic
11	108248944	AG	A	G108248945A	ATM	NM_000051.4(ATM):c.1078del:p.Asp360fs	coding	Pathogenic
11	108248986	AC	A	C108248987A	ATM	NM_000051.4(ATM):c.1120del:p.Gln374fs	coding	Pathogenic
11	108249007	C	CA	G108249009A	ATM	NM_000051.4(ATM):c.1141dup:p.Ser381fs	coding	Pathogenic
11	108249090	A	AT	C108249092T	ATM	NM_000051.4(ATM):c.1224dup:p.Leu409fs	coding	Pathogenic
11	108249095	G	GCGCCT	T108249096C	ATM	NM_000051.4(ATM):c.1228_1229insCGCCT:p.Val410fs	coding	Pathogenic
11	108249112	T	TA	C108249114A	ATM	NM_000051.4(ATM):c.1235+11dup	noncoding	Benign/Likely_benign
11	108250683	C	CTT	A108250699T	ATM	NM_000051.4(ATM):c.1236-4_1236-3dup	noncoding	Benign
11	108250683	CTT	C	T108250697A	ATM	NM_000051.4(ATM):c.1236-4_1236-3del	noncoding	Benign
11	108250702	CT	C	T108250703A	ATM	NM_000051.4(ATM):c.1238del:p.Leu413fs	coding	Pathogenic
11	108250717	CAATTA	C	A108250719T	ATM	NM_000051.4(ATM):c.1254_1258del:p.Gln418fs	coding	Pathogenic
11	108250739	CA	C	A108250741G	ATM	NM_000051.4(ATM):c.1276del:p.Ser426fs	coding	Pathogenic
11	108250747	CCTAA	C	A108250750G	ATM	NM_000051.4(ATM):c.1285_1288del:p.Asn429fs	coding	Pathogenic/Likely_pathogenic
11	108250769	TA	T	A108250770C	ATM	NM_000051.4(ATM):c.1305del:p.Leu435fs	coding	Pathogenic/Likely_pathogenic
11	108250830	GT	G	T108250832A	ATM	NM_000051.4(ATM):c.1367del:p.Leu456fs	coding	Pathogenic/Likely_pathogenic
11	108250865	A	AC	A108250867C	ATM	NM_000051.4(ATM):c.1401dup:p.Lys468fs	coding	Pathogenic
11	108250870	AGGTCAAAC	A	G108250871C	ATM	NM_000051.4(ATM):c.1406_1413del:p.Arg469fs	coding	Pathogenic
11	108250933	A	AT	A108250936T	ATM	NM_000051.4(ATM):c.1470dup:p.Thr491fs	coding	Pathogenic
11	108250947	T	TA	T108250949A	ATM	NM_000051.4(ATM):c.1483dup:p.Ile495fs	coding	Pathogenic
11	108250955	CT	C	T108250956G	ATM	NM_000051.4(ATM):c.1491del:p.Glu498fs	coding	Pathogenic
11	108251060	G	TA	G108251060T	ATM	NM_000051.4(ATM):c.1595delinsTA:p.Cys532fs	coding	Pathogenic
11	108251842	CAGTATGCTGTTTGACTTTGGCACTGACCACCA	C	A108251843G	ATM	NM_000051.4(ATM):c.1614_1645del:p.Val539fs	coding	Pathogenic
11	108251848	GC	AA	G108251848A	ATM	NM_000051.4(ATM):c.1619_1620delinsAA:p.Cys540Ter	coding	Pathogenic
11	108251851	GT	G	T108251854G	ATM	NM_000051.4(ATM):c.1625del:p.Cys541_Leu542insTer	coding	Pathogenic
11	108251863	C	CA	C108251865A	ATM	NM_000051.4(ATM):c.1635dup:p.Leu546fs	coding	Pathogenic
11	108251890	CGGTA	C	G108251891A	ATM	NM_000051.4(ATM):c.1662_1665del:p.Val555fs	coding	Pathogenic
11	108251917	TG	T	G108251918T	ATM	NM_000051.4(ATM):c.1689del:p.Met563fs	coding	Pathogenic
11	108251922	GA	G	A108251924G	ATM	NM_000051.4(ATM):c.1695del:p.Glu565_Val566insTer	coding	Pathogenic
11	108251930	TA	T	A108251931G	ATM	NM_000051.4(ATM):c.1702del:p.Arg568fs	coding	Pathogenic
11	108251969	CTT	C	T108251970A	ATM	NM_000051.4(ATM):c.1741_1742del:p.Leu581fs	coding	Pathogenic/Likely_pathogenic
11	108251990	TG	T	G108251991A	ATM	NM_000051.4(ATM):c.1762del:p.Asp588fs	coding	Pathogenic
11	108252007	CAG	C	G108252009A	ATM	NM_000051.4(ATM):c.1780_1781del:p.Glu594fs	coding	Pathogenic
11	108252823	TC	T	C108252825T	ATM	NM_000051.4(ATM):c.1811del:p.Pro604fs	coding	Pathogenic
11	108252851	GT	G	T108252852G	ATM	NM_000051.4(ATM):c.1838del:p.Val613fs	coding	Pathogenic
11	108252852	TGA	T	A108252854T	ATM	NM_000051.4(ATM):c.1840_1841del:p.Leu615fs	coding	Pathogenic
11	108252870	AC	A	C108252871T	ATM	NM_000051.4(ATM):c.1857del:p.Cys620fs	coding	Pathogenic
11	108253816	AAC	A	A108253819C	ATM	NM_000051.4(ATM):c.1904_1905del:p.His635fs	coding	Pathogenic
11	108253819	AC	A	C108253821A	ATM	NM_000051.4(ATM):c.1906del:p.His636fs	coding	Pathogenic
11	108253824	CA	C	A108253829G	ATM	NM_000051.4(ATM):c.1914del:p.Asp639fs	coding	Pathogenic
11	108253824	C	CA	G108253830A	ATM	NM_000051.4(ATM):c.1914dup:p.Asp639fs	coding	Pathogenic/Likely_pathogenic
11	108253879	CA	C	A108253881C	ATM	NM_000051.4(ATM):c.1966del:p.Thr656fs	coding	Pathogenic
11	108253889	CA	C	A108253891G	ATM	NM_000051.4(ATM):c.1976del:p.Lys659fs	coding	Pathogenic
11	108253905	A	AC	A108253908C	ATM	NM_000051.4(ATM):c.1992dup:p.Ile665fs	coding	Pathogenic
11	108253929	G	GA	G108253934A	ATM	NM_000051.4(ATM):c.2018dup:p.His674fs	coding	Pathogenic
11	108253939	AG	A	G108253940T	ATM	NM_000051.4(ATM):c.2025del:p.Gln675fs	coding	Pathogenic
11	108253946	TA	T	A108253947T	ATM	NM_000051.4(ATM):c.2032del:p.Ile678fs	coding	Pathogenic
11	108253955	CTCTGTCCACCAGAA	C	G108253959C	ATM	NM_000051.4(ATM):c.2044_2057del:p.Val682fs	coding	Pathogenic
11	108254026	ATTAC	A	T108254028C	ATM	NM_000051.4(ATM):c.2113_2116del:p.Tyr705fs	coding	Pathogenic
11	108254045	A	AT	A108254052T	ATM	NM_000051.4(ATM):c.2124+12dup	noncoding	Benign
11	108254045	AT	A	T108254051A	ATM	NM_000051.4(ATM):c.2124+12del	noncoding	Benign
11	108254051	TA	T	A108254058G	ATM	NM_000051.4(ATM):c.2124+19del	noncoding	Benign/Likely_benign
11	108254051	T	TA	G108254059A	ATM	NM_000051.4(ATM):c.2124+19dup	noncoding	Benign/Likely_benign
11	108256241	G	GT	G108256243T	ATM	NM_000051.4(ATM):c.2152dup:p.Cys718fs	coding	Pathogenic
11	108256288	G	GC	T108256289C	ATM	NM_000051.4(ATM):c.2198_2199insC:p.Val734fs	coding	Pathogenic
11	108256293	ATAGC	A	A108256295G	ATM	NM_000051.4(ATM):c.2205_2208del:p.Ile735fs	coding	Pathogenic
11	108257364	C	CT	A108257367T	ATM	NM_000051.4(ATM):c.2251-115dup	noncoding	Benign/Likely_benign
11	108257480	GTC	G	C108257484A	ATM	NM_000051.4(ATM):c.2254_2255del:p.Leu752fs	noncoding	Pathogenic
11	108257516	GT	G	T108257519A	ATM	NM_000051.4(ATM):c.2289del:p.Phe763fs	coding	Pathogenic
11	108257545	GAA	G	A108257546T	ATM	NM_000051.4(ATM):c.2316_2317del:p.Arg772fs	coding	Pathogenic
11	108257600	TA	T	A108257601C	ATM	NM_000051.4(ATM):c.2371del:p.Thr791fs	coding	Pathogenic
11	108259015	T	TC	T108259016C	ATM	NM_000051.4(ATM):c.2406_2407insC:p.Phe803fs	coding	Pathogenic
11	108259034	TC	T	C108259035A	ATM	NM_000051.4(ATM):c.2426del:p.Thr808_Ser809insTer	coding	Pathogenic
11	108259035	C	CA	G108259039A	ATM	NM_000051.4(ATM):c.2429dup:p.Leu811fs	coding	Pathogenic
11	108259040	CT	C	T108259041A	ATM	NM_000051.4(ATM):c.2432del:p.Leu811fs	coding	Pathogenic
11	108259045	GA	G	A108259047T	ATM	NM_000051.4(ATM):c.2438del:p.Asn813fs	coding	Pathogenic
11	108259064	TG	T	G108259065T	ATM	NM_000051.4(ATM):c.2456del:p.Cys819fs	coding	Pathogenic
11	108259069	AAGTTT	A	T108259073A	ATM	NM_000051.4(ATM):c.2464_2466+2del	coding	Pathogenic
11	108259071	G	GTT	A108259075T	ATM	NM_000051.4(ATM):c.2464_2465dup:p.Leu822fs	coding	Pathogenic
11	108267190	C	CA	T108267192A	ATM	NM_000051.4(ATM):c.2487dup:p.Phe830fs	coding	Pathogenic
11	108267241	TAATGG	T	A108267243G	ATM	NM_000051.4(ATM):c.2539_2543del:p.Met847fs	coding	Pathogenic
11	108267255	GATCAGTCATCCATGAATCTATTTAACGATTACCCTGATAGTAGTGTTAGTGATGCAAACGAACCTGGAGAGAGCCAAAGTACCATAGGTAAATACATATTTACTACTTGGGATTTCTTTTACTTCTTTATATTGATTTGGCAGTATA	G	T108267257G	ATM	NM_000051.4(ATM):c.2553_2638+61del	coding	Pathogenic
11	108267269	G	GAATC	T108267274A	ATM	NM_000051.4(ATM):c.2566_2569dup:p.Leu857fs	coding	Pathogenic
11	108267275	A	AT	A108267279T	ATM	NM_000051.4(ATM):c.2574dup:p.Asn859Ter	coding	Pathogenic
11	108267276	TTT	A	T108267276A	ATM	NM_000051.4(ATM):c.2572_2574delinsA:p.Phe858fs	coding	Pathogenic
11	108267303	A	AGT	A108267307T	ATM	NM_000051.4(ATM):c.2601_2602dup:p.Asp868fs	coding	Pathogenic
11	108268379	CTTAGTG	C	G108268383A	ATM	NM_000051.4(ATM):c.2639-27_2639-22del	noncoding	Benign/Likely_benign
11	108268388	AATGAGTGCTTTTT	A	G108268391T	ATM	NM_000051.4(ATM):c.2639-19_2639-7del	noncoding	Pathogenic/Likely_pathogenic
11	108268435	A	AT	A108268437T	ATM	NM_000051.4(ATM):c.2665dup:p.Tyr889fs	coding	Pathogenic
11	108268490	TG	T	G108268491T	ATM	NM_000051.4(ATM):c.2720del:p.Cys907fs	coding	Pathogenic
11	108268548	AAT	A	A108268549T	ATM	NM_000051.4(ATM):c.2778_2779del:p.Lys926fs	coding	Pathogenic
11	108268603	G	TT	G108268603T	ATM	NM_000051.4(ATM):c.2832delinsTT:p.His945fs	coding	Pathogenic
11	108270482	GGTAA	G	A108270485G	ATM	NM_000051.3(ATM):c.2839-579_2839-576del	noncoding	Pathogenic/Likely_pathogenic
11	108271061	T	TAGTATCTAATGCTTTTTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A108271078T	ATM	NC_000011.9:g.108141788_108141789insAGTATCTAATGCTTTTTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	noncoding	Pathogenic
11	108271062	AGT	A	G108271063A	ATM	NM_000051.4(ATM):c.2839-1_2839del	noncoding	Pathogenic
11	108271064	T	TA	T108271066A	ATM	NM_000051.4(ATM):c.2840dup:p.Tyr947Ter	coding	Pathogenic
11	108271090	TG	T	G108271092A	ATM	NM_000051.4(ATM):c.2867del:p.Gly956fs	coding	Pathogenic
11	108271198	GATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGT	G	G108271201C	ATM	NM_000051.4(ATM):c.2922-50_2940del	noncoding	Pathogenic/Likely_pathogenic
11	108271228	C	CT	A108271244T	ATM	NM_000051.4(ATM):c.2922-8dup	noncoding	Benign
11	108271280	A	AAG	T108271284G	ATM	NM_000051.4(ATM):c.2953_2954dup:p.Asp985fs	coding	Pathogenic
11	108271284	TG	T	G108271285T	ATM	NM_000051.4(ATM):c.2956del:p.Val986fs	coding	Pathogenic
11	108271294	A	AC	T108271296C	ATM	NM_000051.4(ATM):c.2966dup:p.Ile990fs	coding	Pathogenic/Likely_pathogenic
11	108271297	AT	A	T108271301A	ATM	NM_000051.4(ATM):c.2972del:p.Ile990_Leu991insTer	coding	Pathogenic
11	108271318	GT	G	T108271319A	ATM	NM_000051.4(ATM):c.2990del:p.Val997fs	coding	Pathogenic
11	108271322	T	TG	A108271324G	ATM	NM_000051.4(ATM):c.2994dup:p.Lys999fs	coding	Pathogenic
11	108271349	ACT	A	C108271352G	ATM	NM_000051.4(ATM):c.3023_3024del:p.Asp1007_Ser1008insTer	coding	Pathogenic
11	108271352	CTG	C	T108271353A	ATM	NM_000051.4(ATM):c.3024_3025del:p.Asn1010fs	coding	Pathogenic
11	108271360	AC	A	C108271361A	ATM	NM_000051.4(ATM):c.3032del:p.Thr1011fs	coding	Pathogenic
11	108271361	C	CA	G108271364A	ATM	NM_000051.4(ATM):c.3034dup:p.Arg1012fs	coding	Pathogenic
11	108271380	GT	G	T108271383C	ATM	NM_000051.4(ATM):c.3054del:p.Thr1020fs	coding	Pathogenic
11	108271401	AT	A	T108271405G	ATM	NM_000051.4(ATM):c.3076del:p.Trp1026fs	coding	Pathogenic
11	108272530	AG	A	G108272532C	ATM	NC_000011.9:g.108143258del	noncoding	Pathogenic
11	108272539	ACAAAG	A	C108272540G	ATM	NM_000051.4(ATM):c.3086_3090del:p.Thr1029fs	coding	Pathogenic
11	108272543	AG	A	G108272545A	ATM	NM_000051.4(ATM):c.3091del:p.Glu1031fs	coding	Pathogenic
11	108272552	AAT	A	A108272559T	ATM	NM_000051.4(ATM):c.3105_3106del:p.Phe1036fs	coding	Pathogenic
11	108272564	CTG	C	G108272566A	ATM	NM_000051.4(ATM):c.3112_3113del:p.Val1038fs	coding	Pathogenic
11	108272578	CT	C	T108272579A	ATM	NM_000051.4(ATM):c.3125del:p.Leu1042fs	coding	Pathogenic
11	108272592	TA	T	A108272596C	ATM	NM_000051.4(ATM):c.3142del:p.Thr1048fs	coding	Pathogenic
11	108272597	CTT	C	T108272599G	ATM	NM_000051.4(ATM):c.3145_3146del:p.Leu1049fs	coding	Pathogenic
11	108272612	G	GT	G108272618T	ATM	NM_000051.4(ATM):c.3153+10dup	noncoding	Benign/Likely_benign
11	108272620	A	AT	A108272628T	ATM	NM_000051.4(ATM):c.3153+20dup	noncoding	Benign/Likely_benign
11	108272735	C	CA	T108272740A	ATM	NM_000051.4(ATM):c.3171dup:p.Trp1058fs	coding	Pathogenic
11	108272750	TTAATG	T	T108272756G	ATM	NM_000051.4(ATM):c.3188_3192del:p.Val1063fs	coding	Pathogenic
11	108272755	G	GT	A108272757T	ATM	NM_000051.4(ATM):c.3188dup:p.Met1064fs	coding	Pathogenic
11	108272769	CTT	C	T108272771C	ATM	NM_000051.4(ATM):c.3203_3204del:p.Phe1068fs	coding	Pathogenic
11	108272780	AT	A	T108272781G	ATM	NM_000051.4(ATM):c.3213del:p.Asn1071fs	coding	Pathogenic
11	108272782	GA	G	A108272784G	ATM	NM_000051.4(ATM):c.3216del:p.Val1073fs	coding	Pathogenic
11	108272811	TCATCACCAAGTTCG	T	C108272815G	ATM	NM_000051.4(ATM):c.3247_3260del:p.His1083fs	coding	Pathogenic
11	108272814	TC	T	C108272815A	ATM	NM_000051.4(ATM):c.3247del:p.His1083fs	coding	Pathogenic
11	108272829	GT	G	T108272831G	ATM	NM_000051.4(ATM):c.3263del:p.Leu1088fs	coding	Pathogenic
11	108272841	GTCAA	G	C108272847A	ATM	NM_000051.4(ATM):c.3279_3282del:p.Asn1094fs	coding	Pathogenic/Likely_pathogenic
11	108279487	T	TAAAAAAAAAAAAAAAAAAAAAAAA	G108279490A	ATM	NM_000051.4(ATM):c.3285-2_3285-1insAAAAAAAAAAAAAAAAAAAAAAAA	noncoding	Pathogenic
11	108279494	GTTCCAGGACACGAAGGGAGATTC	G	A108279502T	ATM	NM_000051.4(ATM):c.3296_3318del:p.Asp1099fs	coding	Pathogenic
11	108279522	AG	A	G108279524T	ATM	NM_000051.4(ATM):c.3318del:p.Arg1106fs	coding	Pathogenic
11	108279539	TC	T	C108279541T	ATM	NM_000051.4(ATM):c.3335del:p.Pro1112fs	coding	Pathogenic
11	108279553	AG	A	G108279554C	ATM	NM_000051.4(ATM):c.3348del:p.Gln1116fs	coding	Pathogenic
11	108279554	GCAAA	G	A108279557G	ATM	NM_000051.4(ATM):c.3351_3354del:p.Thr1118fs	coding	Pathogenic/Likely_pathogenic
11	108279566	T	TGAAAATGCATACTTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A108279583G	ATM	NM_000051.4(ATM):c.3376_3377insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA:p.Lys1126delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
11	108279566	T	TGAAAATGCATACTTGATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A108279583T	ATM	NM_000051.4(ATM):c.3376_3377insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA:p.Lys1126fs	coding	Pathogenic
11	108279575	AT	A	T108279576A	ATM	NM_000051.4(ATM):c.3370del:p.Tyr1124fs	coding	Pathogenic
11	108279595	GA	G	A108279597T	ATM	NM_000051.4(ATM):c.3391del:p.Gly1130_Met1131insTer	coding	Pathogenic
11	108279637	TATC	T	C108279640A	ATM	NM_000051.4(ATM):c.3402+32_3402+34del	noncoding	Benign/Likely_benign
11	108280980	T	AA	T108280980A	ATM	NM_000051.4(ATM):c.3403-15delinsAA	noncoding	Benign/Likely_benign
11	108280992	AAGTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTTACTGACGTTGATAGCTGTGGTTTTATCCTGTAGCCCTATCTGCGAAAAACAGGCTTTGTTTGCCCTGTGTAAATCTGTGAAAGAGAATGGATTAGAACCTCACCTTGTGAAAAAGGTATATATGGATGAGTATTTTATTAGAAGCTTCCTTAGGTCACTGTGAAATAATTTAAAAAGTTAAAGCTAGATTTTCTGAGTGGCACTTATTTAAGACTAGGAAACAATTTTATTTTTTAGGTTGGGAATATTGGAAAGCAGTTATACAAAAACTATTCAAATGGTATATTTATGGTATGCACTGTTTCTTACATTCCATTTAAGAGCATTTCACAAGGCTTTCATTGTACTAACAAGAGTGAATGACTTGTCCACCAGACTGACCAGGCTTTTGGAAATAGTATTTATTGAGGGAAACACATGGAGACAAGAGCAGCATAGGTGTTTTGCCCGGTAGATTCTGGGGCAGCACATTGGGATCCAGCAGGGCCAGAAGTCAAATTTTAGAGCTATCAGGCTTTTAAGTTCAGTTATCAGGGGAGAAGGACTAGGGTCCAAGCCTTATAATTACTACATCAGCACAGTATTATAGAATGTTGGCCCCGTCTCTTTTCCATCACCTCAGCATTTATGGTTTAGGAAGTTCCAGACCTTTCCATTGCAAATTTTTATGTGATAAATCAGTGGTAGGTCAGTGGACTGATATTATGCCAGTTAACATTCTACCAGCATAGTTTCCATGGTGCTTTGGAGTAAGCCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTCGGTGTTTCTTAAAAGTATACAAATACATTACCTAATAATCATAAGTGTTATGTATTGTTTGGATTTTTCTTATTTGGATTTAAGCCTAAGAGAAATAATTTTACTTTATATTTATTTATTTATTTTGAAAGACAGGGTCTCACTCTGTCACCCAAGCTGGAGTGCGGTGATGTG	A	G108280994T	ATM	NM_000051.4(ATM):c.3403-1_3577-680del	noncoding	Pathogenic
11	108281031	AT	A	T108281034A	ATM	NM_000051.4(ATM):c.3442del:p.Tyr1148fs	coding	Pathogenic
11	108281038	AT	A	T108281039A	ATM	NM_000051.4(ATM):c.3447del:p.Asn1149fs	coding	Pathogenic
11	108281041	G	GA	T108281046A	ATM	NM_000051.4(ATM):c.3453dup:p.Ser1152fs	coding	Pathogenic
11	108281045	ATC	A	C108281047G	ATM	NM_000051.4(ATM):c.3455_3456del:p.Ser1152fs	coding	Pathogenic
11	108281094	T	TG	C108281096G	ATM	NM_000051.4(ATM):c.3503dup:p.Cys1168fs	coding	Pathogenic/Likely_pathogenic
11	108281104	AG	A	G108281106C	ATM	NM_000051.4(ATM):c.3514del:p.Ala1172fs	coding	Pathogenic
11	108281114	TG	T	G108281115C	ATM	NM_000051.4(ATM):c.3523del:p.Ala1175fs	coding	Pathogenic
11	108281118	CT	C	T108281119G	ATM	NM_000051.4(ATM):c.3527del:p.Leu1176fs	coding	Pathogenic
11	108281134	AAG	A	G108281138A	ATM	NM_000051.4(ATM):c.3546_3547del:p.Asn1183fs	coding	Pathogenic
11	108281150	AC	A	C108281152T	ATM	NM_000051.4(ATM):c.3560del:p.Pro1187fs	coding	Pathogenic
11	108282732	CT	C	T108282736G	ATM	NM_000051.4(ATM):c.3603del:p.Phe1201fs	coding	Pathogenic/Likely_pathogenic
11	108282749	TTAGA	T	T108282750A	ATM	NM_000051.4(ATM):c.3617_3620del:p.Arg1205_Leu1206insTer	coding	Pathogenic
11	108282757	CTTTATGGCATCTCATTTAGA	C	T108282760A	ATM	NM_000051.4(ATM):c.3627_3646del:p.Phe1209fs	coding	Pathogenic
11	108282758	T	TCTCA	T108282759C	ATM	NM_000051.4(ATM):c.3625_3626insCTCA:p.Phe1209fs	coding	Pathogenic
11	108282777	AT	A	T108282779A	ATM	NM_000051.4(ATM):c.3646del:p.Tyr1216fs	coding	Pathogenic
11	108282780	AT	A	T108282781C	ATM	NM_000051.4(ATM):c.3648del:p.Leu1217fs	coding	Pathogenic
11	108282785	GT	G	T108282789G	ATM	NM_000051.4(ATM):c.3656del:p.Leu1219fs	coding	Pathogenic
11	108282826	ATCTTCTTTTCCTTTTATTT	A	C108282828A	ATM	NM_000051.4(ATM):c.3695_3713del:p.Ser1232fs	coding	Pathogenic
11	108282836	CCTTTT	C	C108282837A	ATM	NM_000051.4(ATM):c.3704_3708del:p.Pro1235fs	coding	Pathogenic
11	108282848	T	TTTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCC	A108282850T	ATM	NM_000051.4(ATM):c.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCT:p.Leu1239delinsPheProPheIleLeuPhePhePhePhePhePheXaaXaaXaaXaaSerAsnPheIleHisValProThrLysAspMetAsnSerSerPhePheMetAlaAlaTer	coding	Pathogenic
11	108282853	CTA	C	T108282854C	ATM	NM_000051.4(ATM):c.3721_3722del:p.Tyr1241fs	coding	Pathogenic
11	108284219	A	AT	A108284225T	ATM	NM_000051.4(ATM):c.3747-3dup	noncoding	Benign
11	108284237	AAG	A	A108284238G	ATM	NM_000051.4(ATM):c.3758_3759del:p.Lys1253fs	coding	Pathogenic
11	108284292	T	TG	T108284293G	ATM	NM_000051.4(ATM):c.3812_3813insG:p.Ile1271fs	coding	Pathogenic
11	108284317	GA	G	A108284321G	ATM	NM_000051.4(ATM):c.3841del:p.Ser1281fs	coding	Pathogenic/Likely_pathogenic
11	108284331	CA	C	A108284332G	ATM	NM_000051.4(ATM):c.3852del:p.Asp1285fs	coding	Pathogenic/Likely_pathogenic
11	108284386	TACCAGAGACAGTGGGATGG	T	A108284387C	ATM	NM_000051.4(ATM):c.3907_3925del:p.Thr1303fs	coding	Pathogenic
11	108284395	CAG	C	A108284396T	ATM	NM_000051.4(ATM):c.3916_3917del:p.Ser1306fs	coding	Pathogenic
11	108284443	G	GC	T108284445C	ATM	NM_000051.4(ATM):c.3964dup:p.Leu1322fs	coding	Pathogenic
11	108284461	AT	A	T108284463G	ATM	NM_000051.4(ATM):c.3983del:p.Leu1328fs	coding	Pathogenic
11	108284464	GGGAAAACA	G	A108284467T	ATM	NM_000051.4(ATM):c.3987_3993+1del	coding	Pathogenic
11	108287599	GA	G	A108287600T	ATM	NM_000051.4(ATM):c.3994del:p.Ile1332fs	noncoding	Pathogenic
11	108287600	AT	A	T108287602G	ATM	NM_000051.4(ATM):c.3996del:p.Ile1332fs	coding	Pathogenic/Likely_pathogenic
11	108287603	GATCACTT	G	C108287606T	ATM	NM_000051.4(ATM):c.4000_4006del:p.His1334fs	coding	Pathogenic
11	108287611	A	AT	C108287614T	ATM	NM_000051.4(ATM):c.4007dup:p.Ile1337fs	coding	Pathogenic
11	108287633	ATTGTGGT	A	T108287634G	ATM	NM_000051.4(ATM):c.4028_4034del:p.Ile1343fs	coding	Pathogenic
11	108287643	AG	A	G108287644T	ATM	NM_000051.4(ATM):c.4038del:p.Glu1346fs	coding	Pathogenic
11	108287697	AC	A	C108287699T	ATM	NM_000051.4(ATM):c.4093del:p.Leu1365fs	coding	Pathogenic
11	108288954	A	AT	C108288961T	ATM	NM_000051.4(ATM):c.4110-17dup	noncoding	Benign
11	108288998	TC	T	C108289000A	ATM	NM_000051.4(ATM):c.4133del:p.Pro1378fs	coding	Pathogenic
11	108289006	AT	A	T108289010C	ATM	NM_000051.4(ATM):c.4143del:p.Pro1382fs	coding	Pathogenic
11	108289042	A	TG	A108289042T	ATM	NM_000051.4(ATM):c.4175delinsTG:p.Tyr1392fs	coding	Pathogenic
11	108289054	GTC	G	T108289055A	ATM	NM_000051.4(ATM):c.4188_4189del:p.Cys1396_His1397delinsTer	coding	Pathogenic
11	108289062	A	AC	A108289065C	ATM	NM_000051.4(ATM):c.4197dup:p.Lys1400fs	coding	Pathogenic
11	108289067	G	GTTTT	A108289070T	ATM	NM_000051.4(ATM):c.4202_4203insTTTT:p.Leu1401fs	coding	Pathogenic
11	108289088	TCTTTCCAAAAGCCCTGTAAG	T	C108289089T	ATM	NM_000051.4(ATM):c.4222_4236+5del	coding	Pathogenic
11	108289102	CT	C	T108289103G	ATM	NM_000051.4(ATM):c.4236del:p.Asp1413fs	coding	Pathogenic
11	108289631	AT	A	T108289632G	ATM	NM_000051.4(ATM):c.4267del:p.Cys1423fs	coding	Pathogenic
11	108289650	ACAAAT	A	C108289651A	ATM	NM_000051.4(ATM):c.4286_4290del:p.Thr1429fs	coding	Pathogenic
11	108289689	T	TA	T108289691A	ATM	NM_000051.4(ATM):c.4325dup:p.Tyr1442Ter	coding	Pathogenic
11	108289695	CTGTT	C	T108289700A	ATM	NM_000051.4(ATM):c.4335_4338del:p.Phe1445fs	coding	Pathogenic
11	108289696	TG	T	G108289697T	ATM	NM_000051.4(ATM):c.4332del:p.Phe1445fs	coding	Pathogenic
11	108289712	AC	A	C108289713T	ATM	NM_000051.4(ATM):c.4348del:p.Leu1449_Leu1450insTer	coding	Pathogenic
11	108292631	CATGG	C	G108292635T	ATM	NM_000051.4(ATM):c.4453_4456del:p.Asp1485fs	coding	Pathogenic
11	108292636	ATG	A	G108292640C	ATM	NM_000051.4(ATM):c.4458_4459del:p.Ser1487fs	coding	Pathogenic
11	108292647	C	CGA	T108292649A	ATM	NM_000051.4(ATM):c.4466_4467insAG:p.Ser1490fs	coding	Pathogenic
11	108292648	GT	G	T108292649A	ATM	NM_000051.4(ATM):c.4467del:p.Ser1490fs	coding	Pathogenic
11	108292661	T	TTGTTGTGACTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTC	A108292676T	ATM	NM_000051.4(ATM):c.4493_4494insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCTGTTGTGACTTATT:p.Leu1498delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValArgTer	coding	Pathogenic
11	108292663	GT	G	T108292665G	ATM	NM_000051.4(ATM):c.4483del:p.Cys1495fs	coding	Pathogenic
11	108292673	ATTAAG	A	T108292675C	ATM	NM_000051.4(ATM):c.4493_4497del:p.Leu1498fs	coding	Pathogenic
11	108292678	G	GTCAGGTTTGCCAGACAGCCGTGA	C108292702T	ATM	NM_000051.4(ATM):c.4497_4519dup:p.Thr1507delinsIleArgPheAlaArgGlnProTer	coding	Pathogenic
11	108292698	G	GTCTTACTTACTTAAGGATGC	G108292700C	ATM	NM_000051.4(ATM):c.4517_4518insCTTACTTACTTAAGGATGCT:p.Val1506_Thr1507insLeuLeuThrTer	coding	Pathogenic
11	108292704	T	TA	C108292706A	ATM	NM_000051.4(ATM):c.4523dup:p.Tyr1508Ter	coding	Pathogenic/Likely_pathogenic
11	108292736	TG	T	G108292737T	ATM	NM_000051.4(ATM):c.4555del:p.Val1519fs	coding	Pathogenic
11	108292745	TGG	CA	T108292745C	ATM	NM_000051.4(ATM):c.4563_4565delinsCA:p.Gly1522fs	coding	Pathogenic
11	108292762	TTG	T	G108292766A	ATM	NM_000051.4(ATM):c.4584_4585del:p.Val1528_Tyr1529insTer	coding	Pathogenic
11	108292765	T	TG	T108292767G	ATM	NM_000051.4(ATM):c.4584dup:p.Tyr1529fs	coding	Pathogenic
11	108293321	CT	C	T108293323G	ATM	NM_000051.4(ATM):c.4622del:p.Leu1541fs	coding	Pathogenic
11	108293326	TGAAATAC	T	G108293327T	ATM	NM_000051.4(ATM):c.4626_4632del:p.Leu1542fs	coding	Pathogenic
11	108293361	A	ATTTTTATT	A108293362T	ATM	NM_000051.4(ATM):c.4660_4661insTTTTTATT:p.Asn1554fs	coding	Pathogenic
11	108293374	CGATTAAGCTTTTAGATCCTTTT	C	G108293375C	ATM	NM_000051.4(ATM):c.4674_4695del:p.Ile1559fs	coding	Pathogenic
11	108293473	TG	T	G108293475A	ATM	NM_000051.4(ATM):c.4774del:p.Glu1592fs	coding	Pathogenic
11	108294920	C	CT	A108294925T	ATM	NM_000051.4(ATM):c.4777-3dup	noncoding	Benign
11	108294947	AG	A	G108294948T	ATM	NM_000051.4(ATM):c.4798del:p.Ser1599_Val1600insTer	coding	Pathogenic
11	108294948	G	GT	A108294950T	ATM	NM_000051.4(ATM):c.4799dup:p.Ser1601fs	coding	Pathogenic
11	108294968	TC	T	C108294970A	ATM	NM_000051.4(ATM):c.4820del:p.Pro1607fs	coding	Pathogenic/Likely_pathogenic
11	108295028	TC	T	C108295029A	ATM	NM_000051.4(ATM):c.4879del:p.Gln1627fs	coding	Pathogenic/Likely_pathogenic
11	108296925	TAAACTCTAAATGTTAGATGTTAAAAAGCCAAGCAGGCTCCCAAAGTCCCTTCTAGCTTTAGTGTTGAATGATTCTTGTGCTTCTGTTTGTGATTTTGCTAAGGTGTTGACTTATCTGCACAATTTGTTTAAGACATTTTATTTTCTCTGTTGTCACATATTGCTAATCACTTTCAAAAGAATCTGTTGTATTAAGGAAGTTCAGATTCATTCCCTACATATTTTTTGAGCTACTCATGACTTAAAACCTTTTTTAAACTTTATAGAAGTTTTCTAGTCAGATAATTTAATATATATGCAATTATAAACAAAAGTGTTGTCTTCATGCTAGTTTAAACTAATTTTTAAAAAATTATTTCTAGATAATCCGCAAGATGGGATTATGGTGAAACTAGTTGTCAATTTGTTGCAGT	CCACAGTGTTGGATAAC	T108296925C	ATM	NM_000051.4(ATM):c.4910-362_4960delinsCCACAGTGTTGGATAAC	noncoding	Pathogenic
11	108297270	T	TA	T108297277A	ATM	NM_000051.4(ATM):c.4910-11dup	noncoding	Benign
11	108297308	TG	T	G108297310T	ATM	NM_000051.4(ATM):c.4933del:p.Met1644_Val1645insTer	coding	Pathogenic
11	108297333	GCA	G	C108297334G	ATM	NM_000051.4(ATM):c.4957_4958del:p.Gln1653fs	coding	Pathogenic
11	108297347	TG	T	G108297349C	ATM	NM_000051.4(ATM):c.4972del:p.Ala1658fs	coding	Pathogenic
11	108297349	G	GCAATAAAC	C108297360A	ATM	NM_000051.4(ATM):c.4975_4982dup:p.His1661delinsGlnTer	coding	Pathogenic
11	108297353	TA	T	A108297356C	ATM	NM_000051.4(ATM):c.4979del:p.Asn1660fs	coding	Pathogenic
11	108299754	TTTCTC	T	T108299756A	ATM	NM_000051.4(ATM):c.5048_5052del:p.Phe1683fs	coding	Pathogenic
11	108299799	C	CA	G108299802A	ATM	NM_000051.4(ATM):c.5093dup:p.Ala1699fs	coding	Pathogenic
11	108299806	C	CT	A108299809T	ATM	NM_000051.4(ATM):c.5100dup:p.Lys1701Ter	coding	Pathogenic
11	108299873	TG	T	G108299875T	ATM	NM_000051.4(ATM):c.5167del:p.Leu1722_Val1723insTer	coding	Pathogenic
11	108301647	GT	G	T108301648G	ATM	NM_000051.4(ATM):c.5178del:p.Cys1726fs	noncoding	Pathogenic
11	108301669	TG	T	G108301670T	ATM	NM_000051.4(ATM):c.5200del:p.Val1734fs	coding	Pathogenic
11	108301698	C	CA	G108301702A	ATM	NM_000051.4(ATM):c.5231dup:p.Thr1745fs	coding	Pathogenic
11	108301730	AAGATGACAAC	A	G108301735C	ATM	NM_000051.4(ATM):c.5265_5274del:p.Met1755fs	coding	Pathogenic
11	108301748	A	AT	G108301750T	ATM	NM_000051.4(ATM):c.5279dup:p.Met1760fs	coding	Pathogenic
11	108301753	GGCCTATCTACA	G	A108301758T	ATM	NM_000051.4(ATM):c.5288_5298del:p.Tyr1763fs	coding	Pathogenic
11	108301757	T	TAG	T108301759G	ATM	NM_000051.4(ATM):c.5288_5289insGA:p.Tyr1763Ter	coding	Pathogenic/Likely_pathogenic
11	108301765	GC	G	C108301767T	ATM	NM_000051.4(ATM):c.5297del:p.Pro1766fs	coding	Pathogenic
11	108301767	CT	C	T108301771A	ATM	NM_000051.4(ATM):c.5301del:p.Phe1767fs	coding	Pathogenic
11	108302876	CAAAGA	C	G108302880C	ATM	NM_000051.4(ATM):c.5347_5351del:p.Glu1783fs	coding	Pathogenic
11	108302876	CAAAG	C	G108302880A	ATM	NM_000051.4(ATM):c.5347_5350del:p.Glu1783fs	coding	Pathogenic
11	108302876	C	CA	G108302880A	ATM	NM_000051.4(ATM):c.5346dup:p.Glu1783fs	coding	Pathogenic
11	108302913	CTG	C	T108302916G	ATM	NM_000051.4(ATM):c.5383_5384del:p.Trp1795fs	coding	Pathogenic
11	108302931	GA	G	A108302935T	ATM	NM_000051.4(ATM):c.5402del:p.Asn1801fs	coding	Pathogenic
11	108302932	A	AAAATCATGACATTTGGATAAAGACACTGACTTTATCC	G108302965T	ATM	NM_000051.4(ATM):c.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT:p.Cys1811delinsLeuSerLysSerTer	coding	Pathogenic
11	108302962	CTT	C	T108302963G	ATM	NM_000051.4(ATM):c.5430_5431del:p.Ala1812fs	coding	Pathogenic
11	108302981	T	TG	A108302984G	ATM	NM_000051.4(ATM):c.5450dup:p.Gly1818fs	coding	Pathogenic
11	108303006	C	CA	T108303009A	ATM	NM_000051.4(ATM):c.5475dup:p.Leu1826fs	coding	Pathogenic
11	108304697	CTG	C	G108304699A	ATM	NM_000051.4(ATM):c.5521_5522del:p.Val1841fs	coding	Pathogenic/Likely_pathogenic
11	108304701	A	AC	T108304703C	ATM	NM_000051.4(ATM):c.5524dup:p.Leu1842fs	coding	Pathogenic
11	108304714	A	AT	C108304717T	ATM	NM_000051.4(ATM):c.5538dup:p.His1847fs	coding	Pathogenic
11	108304723	A	AT	A108304728T	ATM	NM_000051.4(ATM):c.5549dup:p.Leu1850fs	coding	Pathogenic
11	108304730	TC	T	C108304732A	ATM	NM_000051.4(ATM):c.5554del:p.Gln1852fs	coding	Pathogenic
11	108304787	TC	T	C108304788A	ATM	NM_000051.4(ATM):c.5610del:p.Phe1870fs	coding	Pathogenic
11	108304807	TTCTCGCAAAC	T	T108304808G	ATM	NM_000051.4(ATM):c.5630_5639del:p.His1876_Phe1877insTer	coding	Pathogenic
11	108304831	AC	A	C108304835T	ATM	NM_000051.4(ATM):c.5657del:p.Pro1886fs	coding	Pathogenic
11	108307896	GAGTC	G	T108307899A	ATM	NM_000051.4(ATM):c.5677_5680del:p.Glu1894fs	noncoding	Pathogenic
11	108307907	C	CT	C108307913T	ATM	NM_000051.4(ATM):c.5690dup:p.Arg1898fs	coding	Pathogenic
11	108307928	TA	T	A108307934T	ATM	NM_000051.4(ATM):c.5712del:p.Lys1904fs	coding	Pathogenic/Likely_pathogenic
11	108307944	AC	A	C108307945A	ATM	NM_000051.4(ATM):c.5723del:p.Thr1908fs	coding	Pathogenic
11	108307956	G	GT	G108307959T	ATM	NM_000051.4(ATM):c.5736dup:p.Val1913fs	coding	Pathogenic
11	108307957	TTGTGGAC	T	G108307959A	ATM	NM_000051.4(ATM):c.5737_5743del:p.Val1913fs	coding	Pathogenic
11	108307966	AC	A	C108307967A	ATM	NM_000051.4(ATM):c.5745del:p.Asp1914_Tyr1915insTer	coding	Pathogenic/Likely_pathogenic
11	108310173	A	AGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT	C108310174G	ATM	NM_000051.4(ATM):c.5776_5777insGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTT:p.Thr1926delinsArgSerSerLeuAspLeuTer	coding	Pathogenic
11	108310201	ATTTAAATT	A	T108310202A	ATM	NM_000051.4(ATM):c.5805_5812del:p.Asp1935fs	coding	Pathogenic
11	108310202	TTTAAA	T	A108310206T	ATM	NM_000051.4(ATM):c.5809_5813del:p.Asn1937fs	coding	Pathogenic
11	108310235	GT	G	T108310236C	ATM	NM_000051.4(ATM):c.5839del:p.Ser1947fs	coding	Pathogenic
11	108310245	G	GCTCACTTCACAGCTTTA	T108310253C	ATM	NM_000051.4(ATM):c.5855_5856insCACAGCTTTACTCACTT:p.Tyr1957fs	coding	Pathogenic
11	108310285	A	AT	A108310287T	ATM	NM_000051.4(ATM):c.5889dup:p.Lys1964Ter	coding	Pathogenic
11	108310331	AT	A	T108310336G	ATM	NM_000051.4(ATM):c.5918+21del	noncoding	Benign
11	108312436	C	CA	G108312438A	ATM	NM_000051.4(ATM):c.5945dup:p.Ser1983fs	coding	Pathogenic
11	108312448	AT	A	T108312451C	ATM	NM_000051.4(ATM):c.5959del:p.Ser1987fs	coding	Pathogenic
11	108312458	TGAGTGAAAAAAGT	CGAGTA	T108312458C	ATM	NM_000051.4(ATM):c.5966_5979delinsCGAGTA:p.Leu1989fs	coding	Pathogenic
11	108312463	GAAAAAAGT	A	G108312463A	ATM	NM_000051.4(ATM):c.5971_5979delinsA:p.Glu1991fs	coding	Pathogenic
11	108312467	AAAGT	A	G108312470A	ATM	NM_000051.4(ATM):c.5978_5981del:p.Ser1993fs	coding	Pathogenic
11	108312472	AAAGAAG	TAAGAAA	A108312472T	ATM	NM_000051.4(ATM):c.5980_5986delinsTAAGAAA:p.Lys1994_Glu1996delinsTer	coding	Pathogenic
11	108312686	ACT	A	C108312689G	ATM	NM_000051.4(ATM):c.6006+191_6006+192del	noncoding	Benign
11	108315821	AG	A	G108315823A	ATM	NM_000051.4(ATM):c.6007delG:p.Asp2003fs	noncoding	Pathogenic
11	108315839	TC	T	C108315840T	ATM	NM_000051.4(ATM):c.6024del:p.Tyr2009fs	coding	Pathogenic
11	108316017	AACATATGAAC	A	A108316020G	ATM	NM_000051.4(ATM):c.6105_6114del:p.Tyr2036fs	coding	Pathogenic
11	108316061	AT	A	T108316062G	ATM	NM_000051.4(ATM):c.6147del:p.Thr2048_Tyr2049insTer	coding	Pathogenic
11	108316097	A	AG	C108316100G	ATM	NM_000051.4(ATM):c.6184dup:p.Ala2062fs	coding	Pathogenic
11	108316112	AG	A	G108316114T	ATM	NM_000051.4(ATM):c.6198+1del	coding	Pathogenic
11	108316118	A	AT	C108316125T	ATM	NM_000051.4(ATM):c.6198+11dup	noncoding	Benign
11	108317348	TAAAAAC	T	A108317353T	ATM	NM_000051.4(ATM):c.6199-20_6199-15del	noncoding	Benign/Likely_benign
11	108317348	T	TA	C108317354A	ATM	NM_000051.4(ATM):c.6199-20dup	noncoding	Benign
11	108317392	TCTGCCATATTC	T	C108317393T	ATM	NM_000051.4(ATM):c.6219_6229del:p.Cys2074fs	coding	Pathogenic
11	108317438	T	TA	G108317442A	ATM	NM_000051.4(ATM):c.6267dup:p.Asp2090fs	coding	Pathogenic
11	108317468	TC	T	C108317469A	ATM	NM_000051.4(ATM):c.6295del:p.His2099fs	coding	Pathogenic
11	108317470	AT	A	T108317472A	ATM;C11orf65	NM_000051.4(ATM):c.6298del:p.Tyr2100fs	coding	Pathogenic
11	108317496	C	CA	G108317498A	ATM	NM_000051.4(ATM):c.6323dup:p.Trp2109fs	coding	Pathogenic
11	108317539	A	AT	G108317553T	ATM	NM_000051.4(ATM):c.6347+31dup	noncoding	Benign
11	108319969	AAC	A	A108319970C	ATM	NM_000051.4(ATM):c.6364_6365del:p.Thr2122fs	coding	Pathogenic/Likely_pathogenic
11	108319974	G	GT	A108319977T	ATM	NM_000051.4(ATM):c.6370dup:p.Tyr2124fs	coding	Pathogenic
11	108319974	GTTAC	G	T108319975C	ATM	NM_000051.4(ATM):c.6369_6372del:p.Tyr2124fs	coding	Pathogenic
11	108319992	ACAATG	A	A108319994T	ATM	NM_000051.4(ATM):c.6388_6392del:p.Asn2130fs	coding	Pathogenic
11	108320010	T	TA	G108320013A	ATM	NM_000051.4(ATM):c.6406dup:p.Arg2136fs	coding	Pathogenic
11	108320054	G	GC	A108320057C	ATM	NM_000051.4(ATM):c.6450dup:p.Arg2151fs	coding	Pathogenic
11	108321312	TG	T	G108321314A	ATM	NM_000051.4(ATM):c.6466del:p.Glu2156fs	coding	Pathogenic
11	108321313	G	GGAAGA	T108321321A	ATM	NM_000051.4(ATM):c.6468_6472dup:p.Met2158fs	coding	Pathogenic
11	108321327	A	AGC	A108321332G	ATM	NM_000051.4(ATM):c.6482_6483dup:p.Ser2162fs	coding	Pathogenic/Likely_pathogenic
11	108321373	GT	G	T108321375G	ATM	NM_000051.4(ATM):c.6527del:p.Leu2176fs	coding	Pathogenic
11	108321410	CT	C	T108321414C	ATM	NM_000051.4(ATM):c.6566del:p.Phe2189fs	coding	Pathogenic
11	108321410	CTT	C	T108321413C	ATM	NM_000051.4(ATM):c.6565_6566del:p.Phe2189fs	coding	Pathogenic
11	108325249	G	GT	C108325269T	ATM	NM_000051.4(ATM):c.6573-42dup	noncoding	Benign
11	108325249	GT	G	T108325268C	ATM	NM_000051.4(ATM):c.6573-42del	noncoding	Benign
11	108325292	C	CT	A108325294T	ATM	NM_000051.4(ATM):c.6573-17dup	noncoding	Benign/Likely_benign
11	108325342	ATATT	A	T108325343A	ATM	NM_000051.4(ATM):c.6606_6609del:p.Val2201_Tyr2202insTer	coding	Pathogenic
11	108325362	TC	T	C108325365A	ATM	NM_000051.4(ATM):c.6628del:p.Gln2210fs	coding	Pathogenic/Likely_pathogenic
11	108325369	TTC	T	T108325372A	ATM	NM_000051.4(ATM):c.6635_6636del:p.Leu2212fs	coding	Pathogenic
11	108325384	ATT	A	T108325387A	ATM	NM_000051.4(ATM):c.6650_6651del:p.Asp2216_Phe2217insTer	coding	Pathogenic
11	108325401	C	CCTAT	A108325407T	ATM	NM_000051.4(ATM):c.6666_6669dup:p.Met2224fs	coding	Pathogenic
11	108325402	CT	C	T108325403A	ATM	NM_000051.4(ATM):c.6666del:p.Ile2223fs	coding	Pathogenic
11	108325412	TCTACGCA	T	T108325414A	ATM	NM_000051.4(ATM):c.6677_6683del:p.Leu2226fs	coding	Pathogenic
11	108325425	A	ATTTCT	T108325429C	ATM	NM_000051.4(ATM):c.6691_6692insCTTTT:p.Leu2231fs	coding	Pathogenic
11	108325441	TG	T	G108325443A	ATM	NM_000051.4(ATM):c.6706del:p.Glu2236fs	coding	Pathogenic
11	108325459	ACTCACAAAGAGAATGTATTAAGGACATT	A	A108325465C	ATM	NM_000051.4(ATM):c.6728_6755del:p.Gln2243fs	coding	Pathogenic
11	108325462	C	CA	C108325464A	ATM	NM_000051.4(ATM):c.6726dup:p.Gln2243fs	coding	Pathogenic
11	108325466	AAG	A	G108325470A	ATM	NM_000051.4(ATM):c.6733_6734del:p.Glu2245fs	coding	Pathogenic
11	108325470	G	GA	T108325473A	ATM	NM_000051.4(ATM):c.6735dup:p.Cys2246fs	coding	Pathogenic
11	108325494	A	AT	A108325495T	ATM	NM_000051.4(ATM):c.6757_6758insT:p.Lys2253fs	coding	Pathogenic
11	108325500	CT	C	T108325502G	ATM	NM_000051.4(ATM):c.6765del:p.Leu2255_Val2256insTer	coding	Pathogenic
11	108325815	TTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCATGGTAGTAGTATCAGTAGTAAAAGTATTTATTCCCATATGTCATTTTCATTTCAGCTCCCTGAAAGGGCAATATTTCAAATTAAACAGTACAATTCAGTTAGCTGTGGAGTCTCTGAGTGGCAGCTGGAAGAAGCACAAGTATTCTGGGCAAAAAAGGAGCAGAGTCTTGCCCTGAGTATTCTCAAGCAAATGATCAAGAAGTTGGATGCCAGCTGTGCAGCGGTTTGTTTTTTTTATTGGCTGGATTAGTGTTTTACTGTTATTTAAAAAAACACAAATGTACTTTAAAATATTTTTAATAACAATTTTATTAGAGCCTTGAAATTAGTAATTTATTAACAAGATATTGTAAAACTAGTCTTGAAAATTAATTTGTAAATGAAGTTTAGAAACTTTTTCCTATATATCACAATTCTATCAGTCCATCATGTGGTCGATTCATTTAATATATCCCAGTATTAAGCCTTTAACTTCCTATAGAATTCAAGAAAGGTATGTGGGAAATGAATGAAATAGCTACTCTAAATTTGAAATGACAAGTGAAAAAAGGGAAGAGGAAATGAATGAGAGAACTAAATTAGAAAATAAAAGCAAGTTGGGACAATTAGGTTGTCAATCCAAATGCTTTGAAAATATCACATCTAATATTTTATCTAACATTACCTGTTGGTTTTTGCAAACTTATGTTGCTACTTCAGCTGTAAACCCAGCATACACACTGGATAAAGTAGAGGCATTGGTGTCCCCAAGGTTTGTCTACAGTGGTGTCCCACAGACATGTACCTGCTTAGTGAATATCAGCTCACTGTGCTTTATTATTTATTTATTTATTTATTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACGACATCGGCTCACCGCAACCTCCACCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCTTGTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCAAGACTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTATGGCAAAAGCAGATGAGGAAAAACTTTTTTTTTCCCACCCACCAAGGAAAAACATTTTTAACCTGCTTTTTTCCCCGTACATGAAGGGCAGTTGGGTACAGTCATGGTAATGCATTATATTTTAAGATTTTGCCTTTCTTATACAGAACAATCCCAGCCTAAAACTTACATACACAGAATGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCGGTCATCATGCAGACCTATCTAGAAAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTTAGCATGAATATGCTTCATCTTTTCATCAAGATCAATATATTTCCAAAGCAAATAAAAGTATGGTTTTATTTTTCTATATATTATTACTGTTGTAGCTCTGTATAGTCTCTAGGGTGGAGTGAAACATTGTTACAAAACAAAGCAGCCAATTTTGAAAGTAAGCCCAAGTATAGTATCTCTTCTTCCTCCTTCCTACCTCCACTACCAGCTACCCTTTCAGCAGGTTGCTTCTGATCATTTCTTCATTTATGCATCTACAAAAATAACTGATTAAGAATAGGCAAGTCAGCCCTTGCTCTTCATTAGCCCAGCCACCCACAAGTAAAGGCTTCAATATACTAGCCCCTTTGACTTTCCTGTTTCTCCCTCTTATTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTGAAAAGTCAAGAAAATACCATAGTTCAGGGCTGTCCAATCTTTTGGCTTCCCTGGGCCACATTGCAAGAAGAATTGCCTTGGGCCACACATAAAATATACTAACATTAATGATAGCTAATGAGCTTAAAAAAAATCACAAAAGAAATCTCATAATGTTTTAAGAAAATGTACGAATTTGTGTTGGGCCACATTCAAAGCCGTCCTGGGCCACATGCGGCCCATGGGCCGTGGGTTGGACAAGTTTGCAATAGTTCATATAATTTAGCTAGCTTTTATATGTATATAAGTTAAATTTTAGTGTATTACCTTAATTTGAGTGATTCTTTAGATGTATTTAGTATTTGTAAATATAATTTAAATTGGTTGTGTTTTCTTGAAGGCAGTAGAAGTTGCTGGAAATTATGATGGAGAAAGTAGTGATGAGCTAAGAAATGGAAAAATGAAGGCATTTCTCTCATTAGCCCGGTTTTCAGATACTCAATACCAAAGAATTGAAAACTACATGAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAAGAGCCAAAGAGGAAGTAGGTCTCCTTAGGGAACATAAAATTCAGACAAACAGGTAACTAGGTTTCTACAAGTGACAATTTTATGTTCACCAGTTAACTGAGTGAGTGTTTTTGCATAGAAAGAGTGACTTGGTCTTTTTATCTGATATAGTTTTGAGCTCTAAAGGTCGGCTTAACTATATATAGATTATCTTGGTCTTTTGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTGGAGAATATAGATATTAGCTTTCTGTTTTGCTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGCGTGCACTGAAAGAGGATCGTAAACGCTTCTTATGTAAAGCAGTTGAAAATTATATCAACTGCTTATTAAGTGGAGAAGAACATGATATGTGGGTATTCCGACTTTGTTCCCTCTGGCTTGAAAATTCTGGAGTTTCTGAAGTCAATGGCATGATGAAGGCAAGTGTTACTCAGCCCAATATTCTACCCTGTGCTTGAAAAACTTAGACATAAGCCCCTTGATGTCAGGAATCGTGTATACCTCTTTGTATTCCTAGCACTTGGTCCAGTGCTCTACACATAAGTAGCATTTTGTAGTTTTCTAAACTTTGATCCATATTTAGGATTATTTACAAGTTCTAGTCTTGTTTCTACAAAAGTTCCTTTGTATTATATAAGCTGACAAGCTGTAAATGATGCAAGTTTGTGTGGAGGTGATAGAATTTAGCTTGGTCCTATGTCTTTGCAGTTACCATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCAGGAATCAAGATCACAGTCACACTCAGATCACATTTGTCTTCCTTAG	T	T108325816A	ATM	NM_000051.4(ATM):c.6808-242_7516-275del	noncoding	Pathogenic
11	108326078	TC	T	C108326079A	ATM	NM_000051.4(ATM):c.6829del:p.Gln2277fs	coding	Pathogenic
11	108326115	TCTGAGTGGCAG	T	A108326119G	ATM	NM_000051.4(ATM):c.6869_6879del:p.Glu2290fs	coding	Pathogenic
11	108326137	CA	C	A108326138C	ATM	NM_000051.4(ATM):c.6888del:p.Gln2297fs	coding	Pathogenic
11	108326171	TG	T	G108326172C	ATM	NM_000051.4(ATM):c.6922del:p.Ala2308fs	coding	Pathogenic
11	108326194	TG	T	G108326195A	ATM	NM_000051.4(ATM):c.6945del:p.Met2315fs	coding	Pathogenic
11	108326196	A	AT	C108326198T	ATM	NM_000051.4(ATM):c.6947dup:p.Lys2317fs	coding	Pathogenic
11	108327663	C	CT	A108327666T	ATM	NM_000051.4(ATM):c.6996dup:p.Thr2333fs	coding	Pathogenic
11	108327669	TAC	T	C108327673G	ATM	NM_000051.4(ATM):c.7004_7005del:p.Thr2335fs	coding	Pathogenic
11	108327670	AC	A	C108327671A	ATM	NM_000051.4(ATM):c.7002del:p.Thr2333_Tyr2334insTer	coding	Pathogenic
11	108327680	TC	AA	T108327680A	ATM	NM_000051.4(ATM):c.7011_7012delinsAA:p.Cys2337_Leu2338delinsTer	coding	Pathogenic
11	108327687	G	GT	G108327691T	ATM	NM_000051.4(ATM):c.7021dup:p.Cys2341fs	coding	Pathogenic
11	108327687	GT	G	T108327690G	ATM	NM_000051.4(ATM):c.7021del:p.Cys2341fs	coding	Pathogenic
11	108327692	TG	T	G108327694C	ATM	NM_000051.4(ATM):c.7025del:p.Gly2342fs	coding	Pathogenic
11	108327745	C	CCT	A108327748C	ATM	NM_000051.4(ATM):c.7077_7078dup:p.Tyr2360fs	coding	Pathogenic
11	108329009	GT	G	T108329013C	ATM	NM_000051.4(ATM):c.7090-8del	noncoding	Benign
11	108329055	GT	G	T108329056A	ATM	NM_000051.4(ATM):c.7125del:p.Ser2375fs	coding	Pathogenic
11	108329070	G	GA	T108329074A	ATM	NM_000051.4(ATM):c.7142dup:p.Asn2381fs	coding	Pathogenic
11	108329095	CT	C	T108329096C	ATM	NM_000051.4(ATM):c.7165del:p.Ser2389fs	coding	Pathogenic
11	108329114	GAT	G	T108329116C	ATM	NM_000051.4(ATM):c.7185_7186del:p.Thr2396fs	coding	Pathogenic
11	108329130	GA	G	A108329132T	ATM	NM_000051.4(ATM):c.7201del:p.Ile2401fs	coding	Pathogenic
11	108329132	AT	A	T108329134G	ATM	NM_000051.4(ATM):c.7203del:p.Ile2401fs	coding	Pathogenic
11	108329170	G	GA	C108329171A	ATM	NM_000051.4(ATM):c.7239_7240insA:p.Gln2414fs	coding	Pathogenic
11	108329174	GCT	G	T108329178C	ATM	NM_000051.4(ATM):c.7247_7248del:p.Leu2416fs	coding	Pathogenic
11	108329182	GAA	G	A108329185G	ATM	NM_000051.4(ATM):c.7254_7255del:p.Arg2419fs	coding	Pathogenic
11	108329212	T	TAA	G108329214A	ATM	NM_000051.4(ATM):c.7282_7283insAA:p.Arg2428fs	coding	Pathogenic
11	108329213	AG	A	G108329216A	ATM	NM_000051.4(ATM):c.7285del:p.Glu2429fs	coding	Pathogenic
11	108329218	AC	A	C108329219A	ATM	NM_000051.4(ATM):c.7288del:p.His2430fs	coding	Pathogenic
11	108329225	AT	A	T108329227C	ATM	NM_000051.4(ATM):c.7296del:p.Gln2433fs	coding	Pathogenic
11	108329227	TC	T	C108329228A	ATM	NM_000051.4(ATM):c.7297del:p.Gln2433fs	coding	Pathogenic
11	108330215	TACAC	T	C108330217G	ATM	NM_000051.4(ATM):c.7311_7314del:p.Arg2436_Tyr2437insTer	coding	Pathogenic
11	108330229	T	TCACAACCAACA	G108330232C	ATM	NM_000051.4(ATM):c.7325_7326insCAACCAACACA:p.Gln2442fs	coding	Pathogenic
11	108330271	GA	G	A108330274G	ATM	NM_000051.4(ATM):c.7368del:p.Glu2457fs	coding	Pathogenic
11	108330283	TA	T	A108330286C	ATM	NM_000051.4(ATM):c.7380del:p.Lys2460fs	coding	Pathogenic
11	108330330	TAAGTG	T	A108330331G	ATM	NM_000051.4(ATM):c.7425_7429del:p.Ser2476fs	coding	Pathogenic
11	108330353	TG	T	G108330356T	ATM	NM_000051.4(ATM):c.7450del:p.Val2484fs	coding	Pathogenic
11	108330357	T	TA	T108330359A	ATM	NM_000051.4(ATM):c.7452dup:p.Phe2485fs	coding	Pathogenic
11	108330395	G	GTT	C108330399T	ATM	NM_000051.4(ATM):c.7491_7492dup:p.Ser2498fs	coding	Pathogenic
11	108330420	AG	A	G108330422C	ATM	NM_000051.4(ATM):c.7515+1del	coding	Pathogenic
11	108331453	A	AT	G108331455T	ATM	NM_000051.4(ATM):c.7526dup:p.Met2509fs	coding	Pathogenic
11	108331459	AT	A	T108331461C	ATM	NM_000051.4(ATM):c.7533del:p.Pro2512fs	coding	Pathogenic
11	108331473	AT	A	T108331478G	ATM	NM_000051.4(ATM):c.7550del:p.Leu2517fs	coding	Pathogenic
11	108331483	C	CT	A108331486T	ATM	NM_000051.4(ATM):c.7557dup:p.Met2520fs	coding	Pathogenic
11	108331526	GA	G	A108331527G	ATM	NM_000051.4(ATM):c.7599del:p.Gly2534fs	coding	Pathogenic
11	108331529	G	GC	T108331532C	ATM	NM_000051.4(ATM):c.7603dup:p.Leu2535fs	coding	Pathogenic
11	108331914	CACTTTGTTTATTATACTGG	C	A108331915C	ATM	NM_000051.4(ATM):c.7666_7684del:p.Thr2556fs	coding	Pathogenic
11	108331916	CT	C	T108331919G	ATM	NM_000051.4(ATM):c.7670del:p.Leu2557fs	coding	Pathogenic
11	108331922	TTATTA	T	T108331925C	ATM	NM_000051.4(ATM):c.7676_7680del:p.Ile2559fs	coding	Pathogenic
11	108331927	A	AT	A108331929T	ATM	NM_000051.4(ATM):c.7679dup:p.Leu2561fs	coding	Pathogenic
11	108331953	AG	A	G108331954A	ATM	NM_000051.4(ATM):c.7705del:p.Asp2569fs	coding	Pathogenic
11	108331985	G	GC	A108331986C	ATM	NM_000051.4(ATM):c.7736_7737insC:p.Arg2579fs	coding	Pathogenic
11	108331994	G	GAATAACTAAAAATGTC	G108332010C	ATM	NM_000051.4(ATM):c.7760_7761insCAATAACTAAAAATGT:p.Val2587_Pro2588insAsnAsnTer	coding	Pathogenic
11	108332766	GAACAG	CC	G108332766C	ATM	NM_000051.4(ATM):c.7793_7798delinsCC:p.Arg2598fs	coding	Pathogenic
11	108332905	GT	G	T108332913A	ATM	NM_000051.4(ATM):c.7927+13del	noncoding	Benign/Likely_benign
11	108333885	GA	G	A108333887G	ATM	NM_000051.4(ATM):c.7929delA:p.Gly2644fs	noncoding	Pathogenic/Likely_pathogenic
11	108333899	TC	T	C108333901A	ATM	NM_000051.4(ATM):c.7943del:p.Pro2648fs	coding	Pathogenic
11	108333910	AG	A	G108333911C	ATM	NM_000051.4(ATM):c.7953del:p.Gln2651fs	coding	Pathogenic
11	108333913	C	CAATT	C108333919A	ATM	NM_000051.4(ATM):c.7957_7960dup:p.Thr2654fs	coding	Pathogenic
11	108333917	T	TA	C108333919A	ATM	NM_000051.4(ATM):c.7960dup:p.Thr2654fs	coding	Pathogenic
11	108334218	GT	G	T108334220A	ATM	NM_000051.4(ATM):c.8010+252del	noncoding	Benign
11	108335037	AG	A	G108335039A	ATM	NM_000051.4(ATM):c.8081del:p.Gly2694fs	coding	Pathogenic
11	108335054	CA	C	A108335059T	ATM	NM_000051.4(ATM):c.8101del:p.Lys2700_Ile2701insTer	coding	Pathogenic
11	108335054	C	CA	T108335060A	ATM	NM_000051.4(ATM):c.8101dup:p.Ile2701fs	coding	Pathogenic
11	108335060	T	TTA	A108335061T	ATM	NM_000051.4(ATM):c.8102_8103insTA:p.Ile2702fs	coding	Pathogenic
11	108335061	A	TAT	A108335061T	ATM	NM_000051.4(ATM):c.8103delinsTAT:p.Ile2702_Asp2703insTer	coding	Pathogenic
11	108335066	A	AT	G108335069T	ATM	NM_000051.4(ATM):c.8110dup:p.Cys2704fs	coding	Pathogenic
11	108335080	GA	G	A108335081T	ATM	NM_000051.4(ATM):c.8123del:p.Asp2708fs	coding	Pathogenic
11	108335086	AAGGAG	A	G108335093C	ATM	NM_000051.4(ATM):c.8135_8139del:p.Arg2712fs	coding	Pathogenic
11	108335846	GC	G	C108335848G	ATM	NM_000051.4(ATM):c.8155del:p.Arg2719fs	coding	Pathogenic
11	108335870	CT	C	T108335871G	ATM	NM_000051.4(ATM):c.8178del:p.Val2727fs	coding	Pathogenic
11	108335874	C	CA	T108335876A	ATM	NM_000051.4(ATM):c.8182dup:p.Met2728fs	coding	Pathogenic
11	108335894	T	TG	T108335896G	ATM	NM_000051.4(ATM):c.8202dup:p.Cys2735fs	coding	Pathogenic/Likely_pathogenic
11	108335898	TA	T	A108335900T	ATM	NM_000051.4(ATM):c.8207del:p.Asn2736fs	coding	Pathogenic
11	108335937	GA	G	A108335940T	ATM	NM_000051.4(ATM):c.8247del:p.Lys2749fs	coding	Pathogenic
11	108335942	TAACTATCTG	CAAATAGT	T108335942C	ATM	NM_000051.4(ATM):c.8249_8258delinsCAAATAGT:p.Leu2750fs	coding	Pathogenic
11	108335951	G	GT	A108335953T	ATM	NM_000051.4(ATM):c.8259dup:p.Thr2754fs	coding	Pathogenic
11	108335958	TA	T	A108335960G	ATM	NM_000051.4(ATM):c.8267del:p.Lys2756fs	coding	Pathogenic
11	108343308	TG	T	G108343310T	ATM	NM_000051.4(ATM):c.8357del:p.Gly2786fs	coding	Pathogenic
11	108343317	TAA	T	A108343320G	ATM	NM_000051.4(ATM):c.8367_8368del:p.Arg2790fs	coding	Pathogenic
11	108343325	AC	A	C108343326A	ATM	NM_000051.4(ATM):c.8373del:p.Arg2790_Tyr2791insTer	coding	Pathogenic
11	108343329	GC	G	C108343331A	ATM	NM_000051.4(ATM):c.8378del:p.Pro2793fs	coding	Pathogenic
11	108343331	CA	C	A108343334T	ATM	NM_000051.4(ATM):c.8381del:p.Asn2794fs	coding	Pathogenic
11	108343334	AT	C	A108343334C	ATM	NM_000051.4(ATM):c.8381_8382delinsC:p.Asn2794fs	coding	Pathogenic
11	108343337	A	ATTTCAGTGCC	A108343358T	ATM	NM_000051.4(ATM):c.8395_8404dup:p.Gln2802fs	coding	Pathogenic
11	108343337	AT	A	T108343340C	ATM	NM_000051.4(ATM):c.8387del:p.Phe2796fs	coding	Pathogenic
11	108343362	G	GA	T108343367A	ATM	NM_000051.4(ATM):c.8413dup:p.Met2805fs	coding	Pathogenic
11	108345759	CTT	C	T108345762G	ATM	NM_000051.4(ATM):c.8438_8439del:p.Ser2812_Phe2813insTer	coding	Pathogenic
11	108345784	CATGG	C	G108345788T	ATM	NM_000051.4(ATM):c.8464_8467del:p.Asp2822fs	coding	Pathogenic
11	108345796	CCAAAATT	C	C108345797T	ATM	NM_000051.4(ATM):c.8473_8479del:p.Gln2825fs	coding	Pathogenic
11	108345827	T	TG	C108345829G	ATM	NM_000051.4(ATM):c.8504dup:p.Cys2835fs	coding	Pathogenic
11	108345838	A	AT	C108345841T	ATM	NM_000051.4(ATM):c.8516dup:p.Asp2841fs	coding	Pathogenic
11	108345854	ATTTG	A	T108345855G	ATM	NM_000051.4(ATM):c.8531_8534del:p.Ile2844fs	coding	Pathogenic
11	108345880	TAC	T	A108345881G	ATM	NM_000051.4(ATM):c.8557_8558del:p.Thr2853fs	coding	Pathogenic
11	108345896	ACTT	A	T108345902A	ATM	NM_000051.4(ATM):c.8575TCT[1]:p.Ser2860del	coding	Pathogenic
11	108347297	T	TA	T108347298A	ATM	NM_000051.4(ATM):c.8603_8604insA:p.Gly2869fs	coding	Pathogenic
11	108347317	A	AAT	C108347322A	ATM	NM_000051.4(ATM):c.8626_8627dup:p.Leu2877fs	coding	Pathogenic
11	108347327	TAA	T	A108347329T	ATM	NM_000051.4(ATM):c.8635_8636del:p.Ile2878_Asn2879insTer	coding	Pathogenic
11	108347327	TA	T	A108347330T	ATM	NM_000051.4(ATM):c.8636del:p.Asn2879fs	coding	Pathogenic
11	108347327	T	TA	T108347331A	ATM	NM_000051.4(ATM):c.8636dup:p.Asn2879fs	coding	Pathogenic
11	108347334	GCAGT	G	T108347338C	ATM	NM_000051.4(ATM):c.8644_8647del:p.Ser2882fs	coding	Pathogenic
11	108347356	AT	A	T108347357A	ATM	NM_000051.4(ATM):c.8663del:p.Ile2888fs	coding	Pathogenic
11	108347367	T	TTA	A108347368T	ATM	NM_000051.4(ATM):c.8671+2_8671+3insTA	noncoding	Pathogenic
11	108353780	CAG	C	A108353781G	ATM	NM_000051.4(ATM):c.8687_8688del:p.Gln2896fs	coding	Pathogenic
11	108353781	AG	A	G108353784C	ATM	NM_000051.4(ATM):c.8690del:p.Gly2897fs	coding	Pathogenic
11	108353785	CA	C	A108353789T	ATM;C11orf65	NM_000051.4(ATM):c.8695del:p.Ile2899fs	coding	Pathogenic
11	108353807	A	AC	A108353809C	ATM	NM_000051.4(ATM):c.8714dup:p.Val2906fs	coding	Pathogenic
11	108353824	C	CA	C108353826A	ATM	NM_000051.4(ATM):c.8731dup:p.Thr2911fs	coding	Pathogenic
11	108353827	CAG	C	G108353831T	ATM	NM_000051.4(ATM):c.8737_8738del:p.Asp2913fs	coding	Pathogenic
11	108354062	CACACACAA	C	A108354070C	ATM	NM_000051.4(ATM):c.8786+190_8786+197del	noncoding	Benign
11	108354066	CACAA	C	A108354070C	ATM	NM_000051.4(ATM):c.8786+190_8786+193del	noncoding	Benign
11	108354068	CAA	C	A108354070C	ATM	NM_000051.4(ATM):c.8786+190_8786+191del	noncoding	Benign
11	108354069	A	AC	A108354070C	ATM	NM_000051.4(ATM):c.8786+189_8786+190insC	noncoding	Benign
11	108354070	A	AC	A108354071C	ATM	NM_000051.4(ATM):c.8786+190_8786+191insC	noncoding	Benign
11	108354833	G	GTGAT	G108354838T	ATM	NM_000051.4(ATM):c.8810_8813dup:p.Met2938fs	coding	Pathogenic
11	108354840	GAA	G	A108354842C	ATM	NM_000051.4(ATM):c.8818_8819del:p.Asn2940fs	coding	Pathogenic
11	108354882	A	AT	A108354887T	ATM	NM_000051.4(ATM):c.8850+12dup	noncoding	Benign/Likely_benign
11	108365082	G	GT	C108365084T	ATM	NM_000051.4(ATM):c.8852dup:p.Leu2952fs	coding	Pathogenic
11	108365093	TG	T	G108365094A	ATM	NM_000051.4(ATM):c.8863del:p.Asp2955fs	coding	Pathogenic
11	108365099	ACT	A	C108365102T	ATM	NM_000051.4(ATM):c.8871_8872del:p.Leu2957_Phe2958insTer	coding	Pathogenic/Likely_pathogenic
11	108365112	A	AC	A108365115C	ATM	NM_000051.4(ATM):c.8883dup:p.Met2962fs	coding	Pathogenic
11	108365133	TTG	T	G108365135A	ATM	NM_000051.4(ATM):c.8904_8905del:p.Tyr2969fs	coding	Pathogenic
11	108365152	CG	C	G108365154A	ATM	NM_000051.4(ATM):c.8923del:p.Glu2975fs	coding	Pathogenic
11	108365164	CTG	C	T108365165A	ATM	NM_000051.4(ATM):c.8934_8935del:p.Glu2979fs	coding	Pathogenic
11	108365173	A	AC	T108365177C	ATM	NM_000051.4(ATM):c.8945dup:p.Thr2983fs	coding	Pathogenic
11	108365204	CA	C	A108365207C	ATM	NM_000051.4(ATM):c.8976del:p.Lys2992fs	coding	Pathogenic
11	108365216	C	CA	G108365218A	ATM	NM_000051.4(ATM):c.8986dup:p.Ser2996fs	coding	Pathogenic
11	108365328	T	TG	A108365329G	ATM	NM_000051.4(ATM):c.8991_8992insG:p.Ile2998fs	coding	Pathogenic
11	108365343	CAACAAAGTAGCTGAACGTGTCTTAATGA	C	A108365344G	ATM	NM_000051.4(ATM):c.9007_9034del:p.Asn3003fs	coding	Pathogenic/Likely_pathogenic
11	108365387	T	TTTCA	G108365388T	ATM	NM_000051.4(ATM):c.9050_9051insTTCA:p.Lys3018fs	coding	Pathogenic
11	108365393	GA	G	A108365394G	ATM	NM_000051.4(ATM):c.9057del:p.Val3020fs	coding	Pathogenic
11	108365396	TG	T	G108365398A	ATM	NM_000051.4(ATM):c.9061del:p.Glu3021fs	coding	Pathogenic
11	108365404	GGCACTGTGCTCAGTGTTGGTGGACAAGTGAATTTGCTCATACAGCAGGCCATAGACCCCAAAAATCTCAGCCGACTTTTCCCAGGATGGAAAGCTTGGGTGTGATCTTCAGTATATGAATTACCCTTTCATTCAGCCTTTAGAAATTATATTTTA	G	A108365407C	ATM	NM_000051.4(ATM):c.9070_*53del:p.Thr3024fs	coding	Pathogenic
11	108365409	T	TG	T108365411G	ATM	NM_000051.4(ATM):c.9073dup:p.Val3025fs	coding	Pathogenic
11	108365420	TTGGTGGACAAG	T	G108365423A	ATM	NM_000051.4(ATM):c.9086_9096del:p.Gly3029fs	coding	Pathogenic
11	108365463	CA	C	A108365468T	ATM	NM_000051.4(ATM):c.9131del:p.Asn3044fs	coding	Pathogenic
11	108365463	C	CAGCCGACTTTTCCCAGGATGGG	A108365465G	ATM	NM_000051.4(ATM):c.9127_9128insGCCGACTTTTCCCAGGATGGGA:p.Lys3043fs	coding	Pathogenic
11	108512609	AG	A	G108512611A	EXPH5	NM_015065.3(EXPH5):c.2897del:p.Pro966fs	coding	Pathogenic
11	108512964	TG	T	G108512966T	EXPH5	NM_015065.3(EXPH5):c.2542del:p.His848fs	coding	Pathogenic
11	108513559	T	TG	A108513563G	EXPH5	NM_015065.3(EXPH5):c.1947dup:p.Thr650fs	coding	Pathogenic
11	108514111	AG	A	G108514113T	EXPH5	NM_015065.3(EXPH5):c.1395del:p.Phe466fs	coding	Pathogenic
11	108514567	TC	T	C108514568T	EXPH5	NM_015065.3(EXPH5):c.939del:p.Asn314fs	coding	Pathogenic
11	108593905	CT	C	T108593906A	EXPH5	Single_allele	noncoding	Benign
11	110233477	AG	A	G110233478C	RDX	NM_002906.4(RDX):c.1346del:p.Ala449fs	coding	Pathogenic
11	110233697	A	AGTC	A110233698G	RDX	NM_002906.4(RDX):c.1345-219_1345-218insGAC	noncoding	Benign
11	110257779	TCATA	T	C110257780A	RDX	NM_002906.4(RDX):c.682_685del:p.Tyr228fs	coding	Pathogenic
11	110263868	C	CA	C110263884A	RDX	NM_002906.4(RDX):c.467+77dup	noncoding	Benign
11	110264881	CACA	C	C110264892A	RDX	NM_002906.4(RDX):c.97-19TGT[3]	noncoding	Benign/Likely_benign
11	110265114	T	TG	T110265115G	RDX	NM_002906.4(RDX):c.97-241_97-240insC	noncoding	Benign
11	110279865	G	GT	A110279867T	RDX	NM_002906.4(RDX):c.-64-110dup	noncoding	Benign
11	111809517	T	TACAC	G111809540A	ALG9	NM_024740.2(ALG9):c.1733+104GT[13]	noncoding	Benign
11	111809517	T	TAC	G111809540A	ALG9	NM_024740.2(ALG9):c.1733+104GT[12]	noncoding	Benign
11	111844626	CA	C	A111844627T	ALG9	NM_024740.2(ALG9):c.992del:p.Met331fs	coding	Pathogenic
11	111853080	TA	T	A111853093G	ALG9	NM_024740.2(ALG9):c.895+299del	noncoding	Benign
11	111868958	C	CA	G111868973A	ALG9	NM_024740.2(ALG9):c.271-236dup	noncoding	Benign
11	111870381	G	GC	A111870383C	ALG9	NM_024740.2(ALG9):c.132-12dup	noncoding	Benign/Likely_benign
11	111871769	C	CA	C111871784A	ALG9	Single_allele	noncoding	Benign
11	111908825	TC	T	C111908826A	CRYAB	NM_001289808.2(CRYAB):c.466del:p.Glu156fs	coding	Pathogenic
11	111910307	C	CA	C111910315A	CRYAB	NM_001289808.2(CRYAB):c.324+13dup	noncoding	Benign/Likely_benign
11	111911579	AG	A	G111911581T	CRYAB	NM_001289808.2(CRYAB):c.145del:p.Leu49fs	coding	Pathogenic
11	112026278	TGAA	T	A112026280G	DLAT	NM_001931.5(DLAT):c.362_364del:p.Glu121del	coding	Pathogenic
11	112028420	CAAAA	C	A112028442T	DLAT	NM_001931.5(DLAT):c.382-73_382-70del	noncoding	Benign
11	112028420	CAAA	C	A112028443T	DLAT	NM_001931.5(DLAT):c.382-72_382-70del	noncoding	Benign
11	112028420	CAA	C	A112028444T	DLAT	NM_001931.5(DLAT):c.382-71_382-70del	noncoding	Benign
11	112028420	CA	C	A112028445T	DLAT	NM_001931.5(DLAT):c.382-70del	noncoding	Benign
11	112028443	AAAT	A	A112028444T	DLAT	NM_001931.5(DLAT):c.382-71_382-69del	noncoding	Benign
11	112045041	C	CAA	C112045054A	DLAT	NM_001931.5(DLAT):c.1198-86_1198-85dup	noncoding	Benign
11	112045041	C	CA	C112045054A	DLAT	NM_001931.5(DLAT):c.1198-85dup	noncoding	Benign
11	112045277	AG	A	G112045279T	DLAT	NM_001931.5(DLAT):c.1290+49del	noncoding	Benign
11	112051215	GTTC	G	C112051221G	DLAT	NM_001931.5(DLAT):c.1399-13_1399-11del	noncoding	Benign
11	112061022	AT	A	T112061030C	DLAT	NM_001931.5(DLAT):c.1678-8del	noncoding	Benign
11	112086923	AGGCT	A	G112086925A	SDHD	NM_003002.4(SDHD):c.18_21del:p.Leu7fs	coding	Pathogenic/Likely_pathogenic
11	112086960	GT	AA	G112086960A	SDHD	NM_003002.4(SDHD):c.52+1_52+2delinsAA	coding	Pathogenic
11	112086963	AG	A	G112086967T	SDHD	NM_003002.4(SDHD):c.52+8del	noncoding	Benign
11	112087801	TGTCA	T	A112087805C	SDHD	NM_003002.4(SDHD):c.53-52_53-49del	noncoding	Benign/Likely_benign
11	112087889	GCTCATAT	G	T112087894G	SDHD	NM_003002.4(SDHD):c.90_96del:p.His30fs	coding	Pathogenic
11	112087912	G	GGACC	T112087921G	SDHD	NM_003002.4(SDHD):c.113_116dup:p.Ile40fs	coding	Pathogenic/Likely_pathogenic
11	112087926	CAG	C	G112087928A	SDHD	NM_003002.4(SDHD):c.124_125del:p.Glu42fs	coding	Pathogenic
11	112088208	CT	C	T112088217G	SDHD	NM_003002.4(SDHD):c.169+244del	noncoding	Benign
11	112088917	GT	G	T112088921G	SDHD	NM_003002.4(SDHD):c.224del:p.Leu75fs	coding	Pathogenic
11	112088960	G	GCT	G112088965C	SDHD	NM_003002.4(SDHD):c.266_267dup:p.Ala90fs	coding	Pathogenic
11	112088977	TC	T	C112088980T	SDHD	NM_003002.4(SDHD):c.283del:p.Leu95fs	coding	Pathogenic
11	112088978	C	CAATA	C112088979A	SDHD	NM_003002.4(SDHD):c.281_282insAATA:p.Leu95fs	coding	Pathogenic
11	112088984	CT	C	T112088985G	SDHD	NM_003002.4(SDHD):c.288del:p.Ala97fs	coding	Pathogenic
11	112094786	A	AT	C112094793T	SDHD	NM_003002.4(SDHD):c.315-13dup	noncoding	Benign
11	112094786	AT	A	T112094792C	SDHD	NM_003002.4(SDHD):c.315-13del	noncoding	Benign
11	112094829	CTA	C	A112094831G	SDHD	NM_003002.4(SDHD):c.341_342del:p.Tyr114fs	coding	Pathogenic
11	112226516	C	CGAT	T112226520G	PTS	NM_000317.3(PTS):c.74_76dup:p.Leu26Ter	coding	Pathogenic
11	112228571	C	CT	G112228588T	PTS	NM_000317.3(PTS):c.84-7dup	noncoding	Benign
11	112228571	CT	C	T112228587G	PTS	NM_000317.3(PTS):c.84-7del	noncoding	Benign
11	112230209	TGTG	T	G112230213A	PTS	NM_000317.3(PTS):c.166GTG[1]:p.Val57del	coding	Pathogenic/Likely_pathogenic
11	112230217	CAG	C	A112230218T	PTS	NM_000317.3(PTS):c.174_175del:p.Val59fs	coding	Pathogenic
11	112230672	AATAT	A	A112230675G	PTS	NM_000317.3(PTS):c.236_239del:p.Tyr79fs	coding	Pathogenic
11	113255966	T	TC	A113255972C	NCAM1	NM_181351.5(NCAM1):c.1923dup:p.Ile642fs	coding	Pathogenic
11	113323102	CA	C	A113323121C	TTC12	NM_017868.4(TTC12):c.59-167del	noncoding	Benign
11	113323102	C	CA	C113323122A	TTC12	NM_017868.4(TTC12):c.59-167dup	noncoding	Benign
11	113323597	AT	A	T113323607C	TTC12	NM_017868.4(TTC12):c.222+156del	noncoding	Benign
11	113360051	C	CTTGTTTTGTTTTGTTTTGTT	A113360079G	TTC12	NM_017868.4(TTC12):c.1614+44TTGTT[9]	noncoding	Benign
11	113360051	C	CTTGTTTTGTTTTGTTTTGTTTTGTT	A113360079G	TTC12	NM_017868.4(TTC12):c.1614+44TTGTT[10]	noncoding	Benign
11	113413078	C	CT	C113413084T	DRD2	NM_000795.4(DRD2):c.811-200dup	noncoding	Benign
11	113415403	T	TG	T113415410G	DRD2	NM_000795.4(DRD2):c.723+17dup	noncoding	Benign
11	113424351	CA	C	A113424352G	DRD2	NM_000795.4(DRD2):c.285+15del	noncoding	Benign
11	113475529	T	TG	A113475531G	DRD2	NC_000011.9:g.113346251_113346252insG	noncoding	Benign
11	113690759	AG	A	G113690763A	TMPRSS5	NM_030770.4(TMPRSS5):c.1063+81del	noncoding	Benign
11	113694244	C	CA	C113694263A	TMPRSS5	NM_030770.4(TMPRSS5):c.785+216dup	noncoding	Benign
11	113699201	TTGTC	T	G113699211C	TMPRSS5	NM_030770.4(TMPRSS5):c.206-186GACA[2]	noncoding	Benign
11	113699205	CTGTCTG	C	G113699207C	TMPRSS5	NM_030770.4(TMPRSS5):c.206-184_206-179del	noncoding	Benign
11	116789838	C	CCT	C116789844T	APOA5	NM_001371904.1(APOA5):c.*286AG[3]	noncoding	Benign
11	116790340	CT	C	T116790341A	APOA5	NM_001371904.1(APOA5):c.888del:p.Ile296fs	coding	Pathogenic/Likely_pathogenic
11	116790636	AGGCTCTCGGCGTAT	A	C116790639G	APOA5	NM_001371904.1(APOA5):c.579_592del:p.Tyr194fs	coding	Pathogenic
11	116790801	CG	C	G116790802C	APOA5	NM_001371904.1(APOA5):c.427del:p.Arg143fs	coding	Pathogenic/Likely_pathogenic
11	116791317	TG	T	G116791321A	APOA5	NM_001371904.1(APOA5):c.162-251del	noncoding	Benign
11	116820795	GGACA	G	A116820809G	APOA4	NM_000482.4(APOA4):c.*56TGTC[3]	noncoding	Benign
11	116820912	C	CTCCTGCTGCTGT	T116820933C	APOA4	NM_000482.4(APOA4):c.1134_1145dup:p.376QQEQ[4]	coding	Benign
11	116835933	GC	G	C116835934G	APOA1	NM_000039.3(APOA1):c.678del:p.Leu227fs	coding	Pathogenic
11	116836328	AACTCCTGGGTCACAGGGCCGAGCTGTTCGCGCAG	GTGAC	A116836328G	APOA1	NM_000039.3(APOA1):c.250_284delinsGTCAC:p.Leu84_Phe95delinsValThr	coding	Pathogenic
11	117351931	GA	G	A117351942G	CEP164	NM_014956.5(CEP164):c.347del:p.Lys116fs	coding	Benign
11	117363484	T	TG	T117363491G	CEP164	NM_014956.5(CEP164):c.749dup:p.Gly250_Asp251insTer	coding	Pathogenic
11	117375738	C	CTGGCTGG	A117375739T	CEP164	NM_014956.5(CEP164):c.1264_1265insTGGCTGG:p.His422fs	coding	Pathogenic
11	117381770	G	GC	T117381773C	CEP164	NM_014956.5(CEP164):c.1481dup:p.Pro495fs	coding	Pathogenic
11	117382886	A	AG	A117382888G	CEP164	NM_014956.5(CEP164):c.1669dup:p.Glu557fs	coding	Pathogenic
11	117394418	TGAAC	T	A117394421G	CEP164	NM_014956.5(CEP164):c.2688_2691del:p.Arg897fs	coding	Pathogenic
11	117395573	GGA	G	A117395575G	CEP164	NM_014956.5(CEP164):c.2942_2943del:p.Glu981fs	coding	Pathogenic
11	117408987	CTT	C	T117408991C	CEP164	NM_014956.5(CEP164):c.3711_3712del:p.Ser1238fs	coding	Pathogenic
11	117409606	CT	C	T117409610C	CEP164	NM_014956.5(CEP164):c.3749-8del	noncoding	Benign
11	117410008	TC	T	C117410010T	CEP164	NM_014956.5(CEP164):c.4096+45del	noncoding	Benign
11	117437424	G	GGAGA	G117437436A	DSCAML1	NM_020693.4(DSCAML1):c.4433-25TC[7]	noncoding	Benign
11	117465192	T	TG	T117465197G	DSCAML1	NM_020693.4(DSCAML1):c.3025-11dup	noncoding	Benign
11	117986465	AGGATGCTGCCGTGCCTCGTAGTGCTGCTGGCGGCGCTCCTCAGCCTCCGTCTTGGCTCAGACGCTCAT	A	A117986468T	IL10RA	NM_001558.4(IL10RA):c.1_67+1del	noncoding	Pathogenic
11	117994076	G	GA	C117994080A	IL10RA	NM_001558.4(IL10RA):c.618dup:p.Pro207fs	coding	Pathogenic
11	118143627	G	GAGAGGCTA	T118143632G	SCN4B	NM_174934.4(SCN4B):c.463+205_463+206insCTCTTAGC	noncoding	Benign
11	118145116	AG	A	G118145117C	SCN4B	NM_174934.4(SCN4B):c.174del:p.Phe59fs	coding	Benign
11	118263192	TTAAAG	T	A118263199G	MPZL2	NM_005797.4(MPZL2):c.59-100_59-96del	noncoding	Benign
11	118314429	TC	T	C118314433T	CD3E	NM_000733.4(CD3E):c.521-15del	noncoding	Benign
11	118339709	TACAC	T	C118339739A	CD3D	NM_000732.6(CD3D):c.406+34GT[14]	noncoding	Benign
11	118339709	TAC	T	C118339741A	CD3D	NM_000732.6(CD3D):c.406+34GT[15]	noncoding	Benign
11	118339709	T	TAC	A118339743C	CD3D	NM_000732.6(CD3D):c.406+34GT[17]	noncoding	Benign
11	118339709	T	TACAC	A118339743C	CD3D	NM_000732.6(CD3D):c.406+34GT[18]	noncoding	Benign
11	118339709	T	TACACAC	A118339743C	CD3D	NM_000732.6(CD3D):c.406+34GT[19]	noncoding	Benign
11	118342555	TGC	T	C118342557A	CD3D	NM_000732.6(CD3D):c.51_52del:p.Gln18fs	coding	Pathogenic
11	118351615	CT	C	T118351621G	CD3G	NM_000073.3(CD3G):c.440-7del	noncoding	Benign
11	118373558	TG	T	G118373561A	UBE4A	NM_001204077.2(UBE4A):c.992del:p.Gly331fs	coding	Pathogenic
11	118374963	CCA	C	C118374964A	UBE4A	NM_001204077.2(UBE4A):c.1185_1186del:p.Lys396fs	coding	Pathogenic/Likely_pathogenic
11	118436654	GGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCT	G	C118436664G	KMT2A	NM_001197104.2(KMT2A):c.152_186del:p.Pro51fs	coding	Pathogenic
11	118471992	TCTCTC	T	C118471998A	KMT2A	NM_001197104.2(KMT2A):c.839_843del:p.Pro280fs	coding	Pathogenic
11	118472262	A	ATGCAACCATTG	C118472274T	KMT2A	NM_001197104.2(KMT2A):c.1104_1114dup:p.Ala372fs	coding	Pathogenic
11	118472285	T	TG	T118472286G	KMT2A	NM_001197104.2(KMT2A):c.1126_1127insG:p.Leu376fs	coding	Pathogenic
11	118472429	AC	A	C118472433T	KMT2A	NM_001197104.2(KMT2A):c.1274del:p.Pro425fs	coding	Pathogenic
11	118472554	T	TG	T118472555G	KMT2A	NM_001197104.2(KMT2A):c.1395_1396insG:p.Ser466fs	coding	Pathogenic
11	118472810	A	AG	T118472812G	KMT2A	NM_001197104.2(KMT2A):c.1652dup:p.Ser551fs	coding	Pathogenic
11	118472862	C	CA	C118472864A	KMT2A	NM_001197104.2(KMT2A):c.1704dup:p.Pro569fs	coding	Pathogenic
11	118473191	TTGTTTTC	T	T118473192G	KMT2A	NM_001197104.2(KMT2A):c.2033_2039del:p.Leu678fs	coding	Pathogenic
11	118473273	G	GT	G118473275T	KMT2A	NM_001197104.2(KMT2A):c.2115dup:p.Glu706Ter	coding	Pathogenic
11	118473366	GGAAAA	G	A118473373T	KMT2A	NM_001197104.2(KMT2A):c.2214_2218del:p.Arg738fs	coding	Pathogenic
11	118473543	C	CT	A118473548T	KMT2A	NM_001197104.2(KMT2A):c.2388dup:p.Thr797fs	coding	Pathogenic
11	118473778	TAG	T	G118473788C	KMT2A	NM_001197104.2(KMT2A):c.2629_2630del:p.Asp877fs	coding	Pathogenic
11	118473778	T	TAG	C118473790G	KMT2A	NM_001197104.2(KMT2A):c.2629_2630dup:p.Asp877fs	coding	Pathogenic
11	118474023	CT	C	T118474024G	KMT2A	NM_001197104.2(KMT2A):c.2865del:p.Val956fs	coding	Pathogenic
11	118474219	CAAGAGGGTTGCCAGCCTCCTAAA	C	G118474222A	KMT2A	NM_001197104.2(KMT2A):c.3063_3085del:p.Arg1022fs	coding	Pathogenic
11	118478092	CG	C	G118478094T	KMT2A	NM_001197104.2(KMT2A):c.3462del:p.Cys1155fs	coding	Pathogenic
11	118482004	GC	G	C118482006A	KMT2A	NM_001197104.2(KMT2A):c.3926del:p.Pro1309fs	coding	Pathogenic
11	118484301	G	GAGTGGACTTTAAGGTAAAGGTGTTCAGTGATCAT	A118484337G	KMT2A	NM_001197104.2(KMT2A):c.4207_4218+22dup	coding	Benign
11	118489841	TG	T	G118489844A	KMT2A	NM_001197104.2(KMT2A):c.4532del:p.Gly1511fs	coding	Pathogenic
11	118494359	T	TA	G118494366A	KMT2A	NM_001197104.2(KMT2A):c.5256dup:p.Ala1753fs	coding	Pathogenic
11	118494735	CA	C	A118494736G	KMT2A	NM_001197104.2(KMT2A):c.5332del:p.Arg1778fs	coding	Pathogenic
11	118498058	CA	C	A118498059G	KMT2A	NM_001197104.2(KMT2A):c.5788del:p.Arg1930fs	coding	Pathogenic
11	118498385	CA	C	A118498389G	KMT2A	NM_001197104.2(KMT2A):c.5822del:p.Lys1941fs	coding	Pathogenic
11	118498550	T	TA	G118498566A	KMT2A	NM_001197104.2(KMT2A):c.5961+37dup	noncoding	Benign
11	118499928	AAAGAG	A	A118499935G	KMT2A	NM_001197104.2(KMT2A):c.6158+22_6158+26del	noncoding	Benign
11	118501121	T	TTGCCCATAGTCCAACATCTTTTACAGGTTAGTCTTGAA	C118501161G	KMT2A	NM_001197104.2(KMT2A):c.6295_6319+13dup	coding	Benign
11	118502879	TG	T	G118502881A	KMT2A	NM_001197104.2(KMT2A):c.6989del:p.Gly2330fs	coding	Pathogenic
11	118502895	G	GC	A118502900C	KMT2A	NM_001197104.2(KMT2A):c.7007dup:p.Gln2337fs	coding	Pathogenic
11	118502911	AC	A	C118502912A	KMT2A	NM_001197104.2(KMT2A):c.7020del:p.Asn2340fs	coding	Pathogenic
11	118503046	AC	A	C118503047A	KMT2A	NM_001197104.2(KMT2A):c.7155del:p.His2385fs	coding	Pathogenic
11	118503188	G	GA	T118503195A	KMT2A	NM_001197104.2(KMT2A):c.7302dup:p.Ser2435fs	coding	Pathogenic
11	118503487	TG	T	G118503489A	KMT2A	NM_001197104.2(KMT2A):c.7597del:p.Glu2533fs	coding	Pathogenic
11	118503881	AG	A	G118503882C	KMT2A	NM_001197104.2(KMT2A):c.7990del:p.Ala2664fs	coding	Pathogenic
11	118504095	GCCACAACAAGGAAAAGCAGCCA	G	C118504096G	KMT2A	NM_001197104.2(KMT2A):c.8204_8225del:p.Ala2735fs	coding	Pathogenic
11	118504657	AAC	A	C118504659G	KMT2A	NM_001197104.2(KMT2A):c.8767_8768del:p.Gln2923fs	coding	Pathogenic
11	118504765	CAG	C	A118504766G	KMT2A	NM_001197104.2(KMT2A):c.8874_8875del:p.Lys2961fs	coding	Pathogenic
11	118504959	CA	C	A118504960G	KMT2A	NM_001197104.2(KMT2A):c.9068del:p.Gln3023fs	coding	Pathogenic
11	118505337	T	TTCCC	T118505343C	KMT2A	NM_001197104.2(KMT2A):c.9447_9450dup:p.Ser3151fs	coding	Pathogenic
11	118505409	CAA	C	A118505411G	KMT2A	NM_001197104.2(KMT2A):c.9519_9520del:p.Gln3173_Ser3174insTer	coding	Pathogenic
11	118505913	T	TC	T118505916C	KMT2A	NM_001197104.2(KMT2A):c.10023dup:p.Ser3342fs	coding	Pathogenic
11	118505952	A	AC	T118505957C	KMT2A	NM_001197104.2(KMT2A):c.10064dup:p.Thr3356fs	coding	Pathogenic
11	118507559	T	TA	C118507561A	KMT2A	NM_001197104.2(KMT2A):c.10786dup:p.Thr3596fs	coding	Pathogenic
11	118509292	T	TA	T118509304A	KMT2A	NM_001197104.2(KMT2A):c.10900+103dup	noncoding	Benign
11	118572348	GC	G	C118572359G	ARCN1	Single_allele	noncoding	Benign
11	118572348	G	GC	G118572360C	ARCN1	Single_allele	noncoding	Benign
11	118583289	C	CT	G118583292T	ARCN1	NM_001655.5(ARCN1):c.380dup:p.Leu127fs	coding	Pathogenic
11	118583340	G	GT	C118583343T	ARCN1	NM_001655.5(ARCN1):c.431dup:p.Arg145fs	coding	Pathogenic
11	118590462	CG	C	G118590463T	ARCN1	NM_001655.5(ARCN1):c.941del:p.Arg314fs	coding	Pathogenic
11	118592724	G	GA	T118592726A	ARCN1	NM_001655.5(ARCN1):c.1001dup:p.Asp334fs	coding	Pathogenic
11	118597573	T	TAGAG	C118597576A	ARCN1	NM_001655.5(ARCN1):c.1242-132_1242-131insAGAG	noncoding	Benign
11	118597750	TA	T	A118597751T	ARCN1	NM_001655.5(ARCN1):c.1286del:p.Tyr429fs	coding	Pathogenic
11	119018537	A	AG	T119018538G	TRAPPC4	Single_allele	noncoding	Benign
11	119018686	G	GAGA	G119018689A	TRAPPC4	Single_allele	noncoding	Benign
11	119018686	G	GAGGAGA	G119018692A	TRAPPC4	Single_allele	noncoding	Benign
11	119020426	ATTC	A	C119020429T	TRAPPC4	NM_016146.6(TRAPPC4):c.454+176_454+178del	noncoding	Benign
11	119025184	CACTT	C	T119025187C	SLC37A4	NM_001164277.2(SLC37A4):c.1124+3_1124+6del	noncoding	Pathogenic
11	119025261	GACTC	G	A119025262C	SLC37A4	NM_001164277.2(SLC37A4):c.1049_1052del:p.Gly350fs	coding	Pathogenic
11	119025969	TG	T	G119025974A	SLC37A4	NM_001164277.2(SLC37A4):c.981del:p.Lys328fs	coding	Pathogenic
11	119025974	G	GA	G119025976A	SLC37A4	NM_001164277.2(SLC37A4):c.976dup:p.Ser326fs	coding	Pathogenic
11	119025986	ACTGTTACCCGGAAGAGGTAC	A	C119025987A	SLC37A4	NM_001164277.2(SLC37A4):c.945_964del:p.Met315fs	coding	Pathogenic
11	119026022	CCA	C	C119026023G	SLC37A4	NM_001164277.2(SLC37A4):c.927_928del:p.Gly310fs	coding	Pathogenic
11	119026023	CAGC	GA	C119026023G	SLC37A4	NM_001164277.2(SLC37A4):c.925_928delinsTC:p.Ala309fs	coding	Pathogenic
11	119026025	GC	G	C119026027A	SLC37A4	NM_001164277.2(SLC37A4):c.925del:p.Ala309fs	coding	Pathogenic
11	119026686	TACCTG	T	A119026687C	SLC37A4	NM_001164277.2(SLC37A4):c.786-3_787del	coding	Pathogenic
11	119027657	AG	A	G119027659T	SLC37A4	NM_001164277.2(SLC37A4):c.595del:p.Leu199fs	coding	Pathogenic/Likely_pathogenic
11	119027721	CCACA	C	A119027723C	SLC37A4	NM_001164277.2(SLC37A4):c.528_530del:p.Cys176_Val177delinsTrp	coding	Pathogenic
11	119027855	C	CT	G119027857T	SLC37A4	NM_001164277.2(SLC37A4):c.398dup:p.Phe134fs	coding	Pathogenic
11	119028239	C	CA	G119028241A	SLC37A4	NM_001164277.2(SLC37A4):c.335dup:p.Ala113fs	coding	Pathogenic
11	119029295	G	GTAAT	A119029300T	SLC37A4	NM_001164277.2(SLC37A4):c.71_74dup:p.Tyr25Ter	coding	Pathogenic
11	119029358	CT	C	T119029359G	SLC37A4	NM_001164277.2(SLC37A4):c.11del:p.Gln4fs	coding	Pathogenic
11	119069228	T	TC	T119069232C	VPS11	NM_021729.6(VPS11):c.223dup:p.Leu75fs	coding	Benign
11	119073866	GATGGGCTGGCCCAGATTTTCATGCAGT	G	G119073871A	VPS11	NM_021729.6(VPS11):c.1158_1184del:p.Leu387_Gly395del	coding	Pathogenic
11	119084878	CG	C	G119084880A	HMBS	NG_008093.1:g.5004del	noncoding	Pathogenic
11	119088274	TGA	T	A119088278T	HMBS	NM_000190.4(HMBS):c.57_58del:p.Arg19fs	coding	Pathogenic
11	119089698	TC	T	C119089699A	HMBS	NM_000190.4(HMBS):c.283del:p.His95fs	coding	Pathogenic
11	119089728	T	TC	T119089731C	HMBS	NM_000190.4(HMBS):c.314dup:p.Pro106fs	coding	Pathogenic
11	119091474	TC	T	C119091476T	HMBS	NM_000190.4(HMBS):c.562del:p.Leu188fs	coding	Pathogenic
11	119092132	AC	A	C119092135T	HMBS	NM_000190.4(HMBS):c.623del:p.Pro208fs	coding	Pathogenic
11	119092402	AG	A	G119092407C	HMBS	NM_001258208.2(HMBS):c.651+244del	noncoding	Pathogenic
11	119092972	C	CAGAT	C119092979A	HMBS	NM_000190.4(HMBS):c.866_869dup:p.Ser290delinsArgTer	coding	Pathogenic
11	119093159	G	GT	A119093161T	HMBS	NM_000190.4(HMBS):c.963dup:p.Asn322Ter	coding	Pathogenic
11	119093178	CCA	C	C119093179G	HMBS	NM_000190.4(HMBS):c.982_983del:p.Gln328fs	coding	Pathogenic
11	119098006	AACAG	A	C119098008A	DPAGT1	NM_001382.4(DPAGT1):c.762_765del:p.Cys255fs	coding	Pathogenic
11	119098249	TAG	T	G119098255A	DPAGT1	NM_001382.4(DPAGT1):c.728+148CT[2]	noncoding	Benign
11	119206289	CCGG	C	G119206321C	CBL	Single_allele	noncoding	Benign
11	119206371	T	TCGAGC	G119206384A	CBL	NM_005188.4(CBL):c.-44AGCCG[3]	noncoding	Benign
11	119274034	TA	T	A119274040G	CBL	NM_005188.4(CBL):c.747+16del	noncoding	Benign
11	119274995	G	GT	A119274998T	CBL	NM_005188.4(CBL):c.869+44dup	noncoding	Benign
11	119275977	CT	C	T119275978G	CBL	NM_005188.4(CBL):c.870-19del	noncoding	Benign/Likely_benign
11	119278169	CAATATG	C	A119278173T	CBL	NM_005188.4(CBL):c.1103_1108del:p.Tyr368_Glu369del	coding	Pathogenic
11	119278487	ACTAT	A	A119278490T	CBL	NM_005188.4(CBL):c.1228-20_1228-17del	noncoding	Benign
11	119278645	T	TATG	A119278665T	CBL	NM_005188.4(CBL):c.1365TGA[7]:p.Asp460dup	coding	Benign/Likely_benign
11	119343845	GCTGGT	G	G119343848C	MFRP	NM_031433.4(MFRP):c.1090_1094del:p.Thr364fs	coding	Pathogenic
11	119343848	GGT	G	G119343849C	MFRP	NM_031433.4(MFRP):c.1090_1091del:p.Thr364fs	coding	Pathogenic
11	119344979	TG	T	G119344985A	MFRP	NM_031433.4(MFRP):c.666del:p.Thr223fs	coding	Pathogenic
11	119344983	G	GA	G119344984A	MFRP	NM_031433.4(MFRP):c.662_663insT:p.Thr223fs	coding	Pathogenic
11	119345617	G	GAGGAGGCCTCCAC	C119345634A	MFRP	NM_031433.4(MFRP):c.431_443dup:p.Ser149fs	coding	Pathogenic
11	119345886	AG	A	G119345887T	MFRP	NM_031433.4(MFRP):c.313del:p.Leu105fs	coding	Pathogenic
11	119345908	ATGGGG	A	T119345909G	MFRP	NM_031433.4(MFRP):c.287_291del:p.Pro96fs	coding	Pathogenic
11	119346388	A	ATAC	T119346393A	C1QTNF5;MFRP	NM_031433.4(MFRP):c.55-17_55-15dup	noncoding	Benign/Likely_benign
11	119346896	A	AT	C119346897T	MFRP	Single_allele	noncoding	Benign
11	121105867	AT	A	T121105868G	TECTA	NM_005422.4(TECTA):c.102del:p.Asn34fs	coding	Pathogenic
11	121109738	TA	T	A121109747C	TECTA	NM_005422.4(TECTA):c.486+249del	noncoding	Benign
11	121113180	CT	C	T121113181G	TECTA	NM_005422.4(TECTA):c.596del:p.Leu199fs	coding	Pathogenic
11	121118628	A	AG	T121118631G	TECTA	NM_005422.4(TECTA):c.1115dup:p.Ser373fs	coding	Pathogenic
11	121118998	C	CACACACACACAAACACACAT	C121119010A	TECTA	NM_005422.4(TECTA):c.1203+291_1203+292insAACACACATACACACACACA	noncoding	Benign
11	121119004	C	CACACAA	C121119010A	TECTA	NM_005422.4(TECTA):c.1203+291_1203+292insAACACA	noncoding	Benign
11	121119008	C	CAA	C121119010A	TECTA	NM_005422.4(TECTA):c.1203+291_1203+292insAA	noncoding	Benign
11	121119009	AC	A	C121119010A	TECTA	NM_005422.4(TECTA):c.1203+292del	noncoding	Benign
11	121119010	C	CACACAT	C121119016T	TECTA	NM_005422.4(TECTA):c.1203+297_1203+298insTACACA	noncoding	Benign
11	121119011	ACAC	A	C121119012A	TECTA	NM_005422.4(TECTA):c.1203+294_1203+296del	noncoding	Benign
11	121119012	C	CACAT	C121119016T	TECTA	NM_005422.4(TECTA):c.1203+297_1203+298insTACA	noncoding	Benign
11	121119014	C	CAT	C121119016T	TECTA	NM_005422.4(TECTA):c.1203+297_1203+298insTA	noncoding	Benign
11	121128317	A	AGGAG	C121128323G	TECTA	NM_005422.4(TECTA):c.2342_2345dup:p.Ile783fs	coding	Pathogenic
11	121146074	CAG	C	A121146075G	TECTA	NM_005422.4(TECTA):c.4064_4065del:p.Gln1355fs	coding	Pathogenic
11	121165382	TAGTG	T	G121165388C	TECTA	NM_005422.4(TECTA):c.5383+5_5383+8del	coding	Pathogenic
11	121187887	AC	A	C121187889T	TECTA	NM_005422.4(TECTA):c.6057del:p.Cys2020fs	coding	Pathogenic
11	121187930	AC	A	C121187931G	TECTA	NM_005422.4(TECTA):c.6099del:p.Asp2032_Tyr2033insTer	coding	Pathogenic
11	121190662	AT	A	T121190667C	TECTA	NM_005422.4(TECTA):c.6368-39del	noncoding	Benign
11	121304682	CTG	C	T121304683A	SC5D	NM_006918.5(SC5D):c.343+190_343+191del	noncoding	Benign
11	121496848	CT	C	T121496861C	SORL1	NM_003105.6(SORL1):c.759-8del	noncoding	Benign
11	121496969	CG	C	G121496972A	SORL1	NM_003105.6(SORL1):c.862del:p.Glu288fs	coding	Pathogenic
11	121497028	CA	C	A121497029T	SORL1	NM_003105.6(SORL1):c.919del:p.Met307fs	coding	Pathogenic
11	121550589	CG	C	G121550591A	SORL1	NM_003105.6(SORL1):c.2187del:p.Lys730fs	coding	Pathogenic
11	121559675	C	CT	G121559680T	SORL1	NM_003105.6(SORL1):c.3049+22dup	noncoding	Benign
11	121605385	A	AT	G121605395T	SORL1	NM_003105.6(SORL1):c.4779-8dup	noncoding	Benign
11	121621049	C	CT	G121621056T	SORL1	NM_003105.6(SORL1):c.5890-9dup	noncoding	Benign
11	123654694	A	AG	C123654697G	SCN3B	Single_allele	noncoding	Benign
11	124638531	GTTC	G	T124638536C	SIAE	NM_170601.5(SIAE):c.1320+8_1320+10del	noncoding	Benign
11	124875573	G	GC	A124875580C	ROBO3	NM_022370.4(ROBO3):c.2315dup:p.Gln773fs	coding	Pathogenic
11	124876447	CAGCCACTACACGGGTGAGCTCCCGGCCTCGG	C	C124876451G	ROBO3	NM_022370.4(ROBO3):c.2770_2779+21del	coding	Pathogenic
11	124878587	A	AG	A124878589G	ROBO3	NM_022370.4(ROBO3):c.3325dup:p.Glu1109fs	coding	Pathogenic
11	124921713	GC	G	C124921715T	HEPACAM	NM_152722.5(HEPACAM):c.949-274del	noncoding	Benign
11	124923896	AGCCAGGTGTAGCTGGGCTTGGT	A	G124923901T	HEPACAM	NM_152722.5(HEPACAM):c.520_541del:p.Gly173_Thr174insTer	coding	Pathogenic
11	125593855	GTGT	G	G125593866T	STT3A	NM_152713.5(STT3A):c.-36+938TGT[3]	noncoding	Benign
11	125597421	C	CA	G125597438A	STT3A	NM_152713.5(STT3A):c.149+318dup	noncoding	Benign
11	125606136	TA	T	A125606147T	STT3A	NM_152713.5(STT3A):c.616-154del	noncoding	Benign
11	125614045	CAG	C	A125614046T	STT3A	NM_152713.5(STT3A):c.1555-41_1555-40del	noncoding	Benign
11	125618111	A	AATCT	A125618118C	STT3A	NM_152713.5(STT3A):c.1775-259_1775-256dup	noncoding	Benign
11	125618352	C	CT	C125618366T	STT3A	NM_152713.5(STT3A):c.1775-8dup	noncoding	Benign
11	125618576	ATAATAT	A	T125618582A	STT3A	NM_152713.5(STT3A):c.1963+21_1963+26del	noncoding	Benign
11	125620870	A	AT	A125620892T	STT3A	NM_152713.5(STT3A):c.*81dup	noncoding	Benign
11	125904265	TCGCCCCGCTCTCTGCCCTC	T	T125904302C	DDX25	NM_001330438.2(DDX25):c.-280+872_-280+890del	noncoding	Benign
11	125920919	TACACACACAC	T	A125920944G	DDX25	NM_013264.5(DDX25):c.1202-271AC[12]	noncoding	Benign
11	125920919	TACAC	T	A125920950G	DDX25	NM_013264.5(DDX25):c.1202-271AC[15]	noncoding	Benign
11	125981419	TACGCACAC	T	C125981437G	CDON	NM_001378964.1(CDON):c.2996-114GTGTGCGT[2]	noncoding	Benign
11	125995077	AAAC	A	C125995089A	CDON	NM_001378964.1(CDON):c.2363-37GTT[3]	noncoding	Benign/Likely_benign
11	125997144	TATATAA	T	A125997150T	CDON	NM_001378964.1(CDON):c.2362+57_2362+62del	noncoding	Benign
11	126001516	CAG	C	A126001519T	CDON	NM_001378964.1(CDON):c.2158+201_2158+202del	noncoding	Benign
11	126002067	TA	T	A126002071T	CDON	NM_001378964.1(CDON):c.2027-218del	noncoding	Benign
11	126019925	TG	T	G126019929C	CDON	NM_001378964.1(CDON):c.350-161del	noncoding	Benign
11	126019998	GC	G	C126019999A	CDON	NM_001378964.1(CDON):c.350-234del	noncoding	Benign
11	126020000	A	ATT	G126020001T	CDON	NM_001378964.1(CDON):c.350-236_350-235insAA	noncoding	Benign
11	126020991	G	GA	C126021004A	CDON	NM_001378964.1(CDON):c.349+245dup	noncoding	Benign
11	126023149	AT	A	T126023158A	CDON	NM_001378964.1(CDON):c.76+251del	noncoding	Benign
11	128693881	TG	T	G128693889A	FLI1	NM_001271012.2(FLI1):c.-203+7188del	noncoding	Benign
11	128693941	CGAGA	C	G128693990T	FLI1	NM_001271012.2(FLI1):c.-203+7241GA[24]	noncoding	Benign
11	128693941	CGAGAGA	C	G128693988T	FLI1	NM_001271012.2(FLI1):c.-203+7241GA[23]	noncoding	Benign
11	128693941	CGAGAGAGA	C	G128693986T	FLI1	NM_001271012.2(FLI1):c.-203+7241GA[22]	noncoding	Benign
11	128693941	CGAGAGAGAGA	C	G128693984T	FLI1	NM_001271012.2(FLI1):c.-203+7241GA[21]	noncoding	Benign
11	128693941	CGAGAGAGAGAGAGAGAGA	C	G128693976T	FLI1	NM_001271012.2(FLI1):c.-203+7241GA[17]	noncoding	Benign
11	128694478	AC	A	C128694481T	FLI1	NM_002017.5(FLI1):c.18+205del	noncoding	Benign
11	128694497	GC	G	C128694502A	FLI1	NM_002017.5(FLI1):c.18+226del	noncoding	Benign
11	128694511	GC	G	C128694515G	FLI1	NM_002017.5(FLI1):c.18+239del	noncoding	Benign
11	128694517	GC	G	C128694523T	FLI1	NM_002017.5(FLI1):c.18+247del	noncoding	Benign
11	128694542	CG	C	G128694546C	FLI1	NM_002017.5(FLI1):c.18+270del	noncoding	Benign
11	128694581	CA	C	A128694582G	FLI1	NM_002017.5(FLI1):c.18+306del	noncoding	Benign
11	128767812	GT	G	T128767813A	FLI1	NM_002017.5(FLI1):c.231-305del	noncoding	Benign
11	128782158	A	AG	A128782159G	FLI1	NM_002017.5(FLI1):c.655+135_655+136insG	noncoding	Benign
11	128840201	C	CA	G128840208A	KCNJ1	NM_153766.3(KCNJ1):c.42dup:p.Gly15fs	coding	Pathogenic
11	128840513	CT	C	T128840514A	KCNJ1	NM_153766.3(KCNJ1):c.-21-250del	noncoding	Benign
11	128891437	CACACAGAGAG	C	C128891439G	KCNJ5	NM_000890.5(KCNJ5):c.-293_-284del	noncoding	Benign
11	128916243	T	TGG	A128916244G	KCNJ5	NM_000890.5(KCNJ5):c.938-166_938-165insGG	noncoding	Benign
11	128916244	A	AGATG	A128916281G	KCNJ5	NM_000890.5(KCNJ5):c.938-164GATG[10]	noncoding	Benign
11	128916244	A	AGATGGATG	A128916281G	KCNJ5	NM_000890.5(KCNJ5):c.938-164GATG[11]	noncoding	Benign
11	128916244	A	AGATGGATGGATG	A128916281G	KCNJ5	NM_000890.5(KCNJ5):c.938-164GATG[12]	noncoding	Benign
11	128916244	A	AGATGGATGGATGGATG	A128916281G	KCNJ5	NM_000890.5(KCNJ5):c.938-164GATG[13]	noncoding	Benign
11	130196557	G	GC	T130196565C	ST14	NM_021978.4(ST14):c.1224-6dup	noncoding	Benign
11	134140005	TA	T	A134140007G	JAM3	NM_032801.5(JAM3):c.142+91del	noncoding	Benign
11	134140885	GT	G	T134140898A	JAM3	NM_032801.5(JAM3):c.256+128del	noncoding	Benign
11	134140894	TTTTTA	T	T134140895A	JAM3	NM_032801.5(JAM3):c.256+125_256+129del	noncoding	Benign
11	134144087	CAA	C	A134144088G	JAM3	NM_032801.5(JAM3):c.257-153_257-152del	noncoding	Benign
11	134144778	C	CCTT	T134144779C	JAM3	NM_032801.5(JAM3):c.410-14_410-13insCTT	noncoding	Benign
11	134145149	TCTTC	T	C134145153T	JAM3	NM_032801.5(JAM3):c.612+159_612+162del	noncoding	Benign
11	134148572	TG	T	G134148579T	JAM3	NM_032801.5(JAM3):c.745del:p.Val249fs	coding	Pathogenic
11	134148572	T	TG	T134148580G	JAM3	NM_032801.5(JAM3):c.745dup:p.Val249fs	coding	Pathogenic
11	134148955	A	AACACAC	T134148996A	JAM3	NM_032801.5(JAM3):c.897+138AC[23]	noncoding	Benign
11	134148955	A	AACAC	T134148996A	JAM3	NM_032801.5(JAM3):c.897+138AC[22]	noncoding	Benign
11	134148955	AAC	A	A134148994T	JAM3	NM_032801.5(JAM3):c.897+138AC[19]	noncoding	Benign
11	134148955	A	ACAC	A134148956C	JAM3	NM_032801.5(JAM3):c.897+137_897+138insCAC	noncoding	Benign
11	134148955	AACAC	A	A134148992T	JAM3	NM_032801.5(JAM3):c.897+138AC[18]	noncoding	Benign
11	134148955	A	ACACAC	A134148956C	JAM3	NM_032801.5(JAM3):c.897+137_897+138insCACAC	noncoding	Benign
11	134149122	TCTAA	T	A134149125G	JAM3	NM_032801.5(JAM3):c.898-21_898-18del	noncoding	Benign
11	134168560	CTCTT	C	C134168562G	NCAPD3	NM_015261.3(NCAPD3):c.3278_3281del:p.Lys1093fs	coding	Pathogenic
11	134261345	G	GT	G134261349T	ACAD8	NM_014384.3(ACAD8):c.915dup:p.Gly306fs	coding	Pathogenic
12	826851	CTT	C	T826852A	WNK1	NM_018979.4(WNK1):c.933-190_933-189del	noncoding	Benign
12	859631	T	TGTGTGTGTGTG	T859634G	WNK1	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGGT	noncoding	Benign
12	859632	G	GTGTGTGTGTGTGGT	T859634G	WNK1	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGGTT	noncoding	Benign
12	859632	G	GTGTGTGTGTGTGTGTGGT	T859634G	WNK1	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGTGTGGTT	noncoding	Benign
12	859633	T	TGTGTGTGTGTGG	T859634G	WNK1	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGG	noncoding	Benign
12	860927	CT	C	T860939G	WNK1	NM_018979.4(WNK1):c.1621-74del	noncoding	Benign
12	864971	C	CA	C864982A	WNK1	NM_018979.4(WNK1):c.2139+2711dup	noncoding	Benign
12	865142	T	TC	A865146C	WNK1	NM_213655.5(WNK1):c.2175dup:p.Ile726fs	coding	Benign
12	865189	T	TC	T865191C	WNK1	NM_213655.5(WNK1):c.2220dup:p.Phe741fs	coding	Benign
12	867932	A	ACT	A867935C	WNK1	NM_213655.5(WNK1):c.2462_2463dup:p.Ile822fs	coding	Pathogenic
12	868143	CCA	C	C868144G	WNK1	NM_213655.5(WNK1):c.2673_2674del:p.Ala891_Ser892insTer	coding	Pathogenic
12	868556	CCTGT	C	G868559T	WNK1	NM_213655.5(WNK1):c.3088_3091del:p.Val1030fs	coding	Pathogenic
12	868565	GT	G	T868567C	WNK1	NM_213655.5(WNK1):c.3096del:p.Pro1033fs	coding	Pathogenic
12	868707	A	AG	T868710G	WNK1	NM_213655.5(WNK1):c.3238dup:p.Val1080fs	coding	Pathogenic
12	878367	CT	C	T878382A	WNK1	NM_018979.4(WNK1):c.2373+21del	noncoding	Benign
12	879446	GT	G	T879457G	WNK1	NM_018979.4(WNK1):c.2374-116del	noncoding	Benign
12	879457	TG	T	G879458T	WNK1	NM_018979.4(WNK1):c.2374-115del	noncoding	Benign
12	880634	CT	C	T880648G	WNK1	NM_018979.4(WNK1):c.2833-73del	noncoding	Benign
12	886125	G	GT	C886134T	WNK1	NM_018979.4(WNK1):c.5280+49dup	noncoding	Benign
12	894591	GCAACTAGTT	G	A894594G	WNK1	NM_018979.4(WNK1):c.5542_5550del:p.Thr1848_Ser1850del	coding	Benign/Likely_benign
12	896886	CCACACACA	C	A896932G	WNK1	NM_018979.4(WNK1):c.6245+155CA[22]	noncoding	Benign
12	896886	CCACACACACACA	C	A896928G	WNK1	NM_018979.4(WNK1):c.6245+155CA[20]	noncoding	Benign
12	896886	CCACACACACACACACACACA	C	A896920G	WNK1	NM_018979.4(WNK1):c.6245+155CA[16]	noncoding	Benign
12	896886	CCACACACACACACACACACACACACA	C	A896914G	WNK1	NM_018979.4(WNK1):c.6245+155CA[13]	noncoding	Benign
12	896886	CCACACACACACACACACACACACACACA	C	A896912G	WNK1	NM_018979.4(WNK1):c.6245+155CA[12]	noncoding	Benign
12	907715	C	CT	C907717T	WNK1	NM_018979.4(WNK1):c.6644-131dup	noncoding	Benign
12	1840821	TG	T	G1840825A	CACNA2D4	NM_172364.5(CACNA2D4):c.2471-3del	noncoding	Benign
12	1840845	A	AC	T1840846C	CACNA2D4	NM_172364.5(CACNA2D4):c.2471-27_2471-26insG	noncoding	Benign
12	1856164	A	AT	A1856171T	CACNA2D4	NM_172364.5(CACNA2D4):c.2054+19dup	noncoding	Benign
12	1907384	A	ATTGTC	A1907387G	CACNA2D4	NM_172364.5(CACNA2D4):c.781+55_781+56insAAGAC	noncoding	Benign
12	2053484	TA	T	A2053486T	CACNA1C	NM_000719.7(CACNA1C):c.-77del	noncoding	Benign
12	2120656	C	CTG	T2120698G	CACNA1C	NM_000719.7(CACNA1C):c.477+227TG[21]	noncoding	Benign
12	2120656	C	CTGTG	T2120698G	CACNA1C	NM_000719.7(CACNA1C):c.477+227TG[22]	noncoding	Benign
12	2120656	C	CTGTGTG	T2120698G	CACNA1C	NM_000719.7(CACNA1C):c.477+227TG[23]	noncoding	Benign
12	2120656	CTG	C	G2120696T	CACNA1C	NM_000719.7(CACNA1C):c.477+227TG[19]	noncoding	Benign
12	2448763	GA	G	A2448774T	CACNA1C	NM_000719.7(CACNA1C):c.478-202del	noncoding	Benign
12	2448763	G	GA	T2448775A	CACNA1C	NM_000719.7(CACNA1C):c.478-202dup	noncoding	Benign
12	2504886	T	TA	C2504888A	CACNA1C	NM_000719.7(CACNA1C):c.1159dup:p.Thr387fs	coding	Pathogenic
12	2556936	CT	C	T2556941C	CACNA1C	NM_000719.7(CACNA1C):c.1482-10del	noncoding	Benign
12	2582958	GC	G	C2582964A	CACNA1C	NM_000719.7(CACNA1C):c.2224+22del	noncoding	Benign
12	2634194	C	CT	C2634212T	CACNA1C	NM_000719.7(CACNA1C):c.3829-86dup	noncoding	Benign
12	2634194	CT	C	T2634211C	CACNA1C	NM_000719.7(CACNA1C):c.3829-86del	noncoding	Benign
12	2634194	CTT	C	T2634210C	CACNA1C	NM_000719.7(CACNA1C):c.3829-87_3829-86del	noncoding	Benign
12	2634484	A	AT	A2634497T	CACNA1C	NM_000719.7(CACNA1C):c.3912+116dup	noncoding	Benign
12	2634484	AT	A	T2634496A	CACNA1C	NM_000719.7(CACNA1C):c.3912+116del	noncoding	Benign
12	2634556	C	CT	A2634570T	CACNA1C	NM_000719.7(CACNA1C):c.3912+189dup	noncoding	Benign
12	2634556	CT	C	T2634569A	CACNA1C	NM_000719.7(CACNA1C):c.3912+189del	noncoding	Benign
12	2651799	GA	G	A2651801T	CACNA1C	NM_000719.7(CACNA1C):c.4074+33del	noncoding	Benign
12	2677069	C	CCT	C2677075T	CACNA1C	NM_000719.7(CACNA1C):c.4829-24CT[3]	coding	Benign
12	2677366	A	AGAT	G2677371A	CACNA1C	NM_000719.7(CACNA1C):c.4956+147_4956+149dup	coding	Benign
12	2680235	C	CA	C2680236A	CACNA1C	NM_000719.7(CACNA1C):c.5444+439_5444+440insA	noncoding	Benign
12	2681964	CGA	TGG	C2681964T	CACNA1C;CACNA1C-AS1	NM_000719.7(CACNA1C):c.5445-586_5445-584delinsTGG	coding	Benign
12	2682290	T	TG	T2682295G	CACNA1C	NM_000719.7(CACNA1C):c.5445-256dup	noncoding	Benign
12	2682879	CCA	C	C2682892G	CACNA1C	NM_000719.7(CACNA1C):c.5573+202CA[6]	noncoding	Benign
12	2685953	T	TG	C2685958G	CACNA1C	NM_000719.7(CACNA1C):c.5680+115dup	noncoding	Benign
12	2688554	G	GC	A2688560C	CACNA1C	NM_000719.7(CACNA1C):c.5897dup:p.Gln1967fs	coding	Pathogenic
12	2691229	A	AT	G2691233T	CACNA1C	NM_000719.7(CACNA1C):c.*33dup	noncoding	Benign
12	2931086	TC	T	C2931088T	TULP3	NM_003324.5(TULP3):c.544del:p.Leu182fs	coding	Pathogenic
12	4289183	CG	C	G4289185A	CCND2	NM_001759.4(CCND2):c.720+195del	noncoding	Benign
12	4372329	T	TA	G4372341A	FGF23	NM_020638.3(FGF23):c.315+254dup	noncoding	Benign
12	4372578	CA	C	A4372584G	FGF23	NM_020638.3(FGF23):c.315+15del	noncoding	Benign
12	4372733	C	CG	C4372734G	FGF23	NM_020638.3(FGF23):c.212-37_212-36insC	noncoding	Benign
12	4379201	GCA	G	C4379218A	FGF23	NM_020638.3(FGF23):c.211+153TG[8]	noncoding	Benign
12	4517710	CAG	C	G4517738C	C12orf4	NM_020374.4(C12orf4):c.1033+320CT[13]	noncoding	Benign
12	4654614	GCA	G	A4654618T	NDUFA9	NM_005002.5(NDUFA9):c.220+156_220+157del	noncoding	Benign
12	4659355	TTC	T	C4659357G	NDUFA9	NM_005002.5(NDUFA9):c.552+180_552+181del	noncoding	Benign
12	5045249	TACTTCATC	T	T5045252C	KCNA5	NM_002234.4(KCNA5):c.1105_1112del:p.Phe369fs	coding	Pathogenic
12	5951884	CT	C	T5951885A	VWF	NM_000552.5(VWF):c.8116-2del	coding	Pathogenic
12	5953522	TTAGC	T	A5953524G	VWF	NM_000552.5(VWF):c.7956_7959del:p.Leu2653fs	coding	Pathogenic
12	5969265	A	AG	C5969270G	VWF	NM_000552.5(VWF):c.7674dup:p.Ser2559fs	coding	Pathogenic
12	5969321	AC	A	C5969323T	VWF	NM_000552.5(VWF):c.7618del:p.Val2540fs	coding	Pathogenic
12	5971621	TCC	T	C5971626G	VWF	NM_000552.5(VWF):c.7524_7525del:p.Asp2509fs	coding	Pathogenic
12	5976171	G	GGCATCCTCCATGTCGGT	G5976192T	VWF	NM_000552.5(VWF):c.7360_7376dup:p.Val2460fs	coding	Pathogenic
12	5981942	C	CG	C5981949G	VWF	NM_000552.5(VWF):c.7130dup:p.His2378fs	coding	Pathogenic
12	5983463	TGATA	T	G5983476C	VWF	NM_000552.5(VWF):c.6977-225TATC[3]	noncoding	Benign
12	5985057	CG	C	G5985061C	VWF	NM_000552.5(VWF):c.6963del:p.Glu2322fs	coding	Pathogenic
12	5985103	CA	C	A5985104G	VWF	NM_000552.5(VWF):c.6917del:p.Leu2306fs	coding	Pathogenic
12	5991914	A	AGCCT	T5991919G	VWF	NM_000552.5(VWF):c.6699_6702dup:p.Cys2235fs	coding	Pathogenic
12	5991982	C	CA	G5991984A	VWF	NM_000552.5(VWF):c.6634dup:p.Cys2212fs	coding	Pathogenic
12	5992006	GGGCATGACATAGCTGTA	G	G5992008A	VWF	NM_000552.5(VWF):c.6599-5_6610del	coding	Pathogenic
12	5993929	G	GATCACCTCACACACTTGCTCCTGGTGGCAACTGTCCTGCTGGCA	G5993974A	VWF	NM_000552.5(VWF):c.6487_6530dup:p.Ser2179_Tyr2180insArgThrValAlaThrArgSerLysCysValArgTerAlaSer	coding	Pathogenic
12	5994482	TG	T	G5994484A	VWF	NM_000552.5(VWF):c.6188del:p.Pro2063fs	coding	Pathogenic
12	5994488	GA	G	A5994490T	VWF	NM_000552.5(VWF):c.6182del:p.Phe2061fs	coding	Pathogenic
12	5996083	G	GA	C5996084A	VWF	NM_000552.5(VWF):c.5981_5982insT:p.Gly1996fs	coding	Pathogenic
12	6011566	AAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAAATT	A	A6011567C	VWF	NM_000552.5(VWF):c.5621-50_5842+50del	noncoding	Pathogenic
12	6013642	AC	A	C6013643T	VWF	NM_000552.5(VWF):c.5458del:p.Arg1819_Val1820insTer	coding	Pathogenic
12	6016664	GA	G	A6016666C	VWF	NM_000552.5(VWF):c.5171-9del	noncoding	Benign
12	6018060	AT	A	T6018076A	VWF	NM_000552.5(VWF):c.5053+304del	noncoding	Benign
12	6018060	ATT	A	T6018075A	VWF	NM_000552.5(VWF):c.5053+303_5053+304del	noncoding	Benign
12	6018460	TC	T	C6018462T	VWF	NM_000552.5(VWF):c.4957del:p.Asp1653fs	coding	Pathogenic
12	6018806	TGACGTG	T	C6018809T	VWF	NM_000552.5(VWF):c.4606_4611del:p.His1536_Val1537del	coding	Pathogenic
12	6018847	AC	A	C6018849T	VWF	NM_000552.5(VWF):c.4570del:p.Glu1523_Val1524insTer	coding	Pathogenic
12	6019004	CG	C	G6019010C	VWF	NM_000552.5(VWF):c.4413del:p.Asp1472fs	coding	Pathogenic
12	6019108	GC	G	C6019110T	VWF	NM_000552.5(VWF):c.4309del:p.Ala1437fs	coding	Pathogenic
12	6019477	AC	A	C6019480A	VWF	NM_000552.5(VWF):c.3940del:p.Val1314fs	coding	Pathogenic
12	6019568	CATCCAGCAGGA	C	T6019570G	VWF	NM_000552.5(VWF):c.3839_3849del:p.Phe1280fs	coding	Pathogenic
12	6019645	TAC	T	C6019647G	VWF	NM_000552.5(VWF):c.3771_3772del:p.Tyr1258fs	coding	Pathogenic
12	6019655	TG	T	G6019659C	VWF	NM_000552.5(VWF):c.3762del:p.Thr1255fs	coding	Pathogenic
12	6023703	TGTCGCAGAAGCAGGCGCAGTCC	GGA	T6023703G	VWF	NM_000552.5(VWF):c.3285_3307delinsTCC:p.Asp1096fs	coding	Pathogenic
12	6025644	T	TG	C6025646G	VWF	NM_000552.5(VWF):c.3157dup:p.Gln1053fs	coding	Pathogenic
12	6029343	T	TG	T6029346G	VWF	NM_000552.5(VWF):c.2965dup:p.Gln989fs	coding	Pathogenic
12	6044302	GG	T	G6044302T	VWF	NM_000552.5(VWF):c.2430_2431delinsA:p.Cys810_Pro811delinsTer	coding	Pathogenic
12	6044332	T	TCATG	C6044339T	VWF	NM_000552.5(VWF):c.2397_2400dup:p.Ser801fs	coding	Pathogenic
12	6044336	G	GCACT	C6044342A	VWF	NM_000552.5(VWF):c.2393_2396dup:p.Cys799Ter	coding	Pathogenic
12	6044422	TG	T	G6044428C	VWF	NM_000552.5(VWF):c.2310del:p.Met771fs	coding	Pathogenic
12	6044422	T	TG	C6044429G	VWF	NM_000552.5(VWF):c.2310dup:p.Met771fs	coding	Pathogenic
12	6052603	CAG	C	A6052604G	VWF	NM_000552.5(VWF):c.2124_2125del:p.Cys709fs	coding	Pathogenic
12	6052657	GG	C	G6052657C	VWF	NM_000552.5(VWF):c.2071_2072delinsG:p.Pro691fs	coding	Pathogenic
12	6052709	AAG	A	A6052718C	VWF	NM_000552.5(VWF):c.2018_2019del:p.Ser673fs	coding	Pathogenic
12	6052736	AG	A	G6052741T	VWF	NM_000552.5(VWF):c.1992del:p.Cys665fs	coding	Pathogenic
12	6056958	C	CA	G6056960A	VWF	NM_000552.5(VWF):c.1843dup:p.Cys615fs	coding	Pathogenic
12	6057996	TG	T	G6057997T	VWF	NM_000552.5(VWF):c.1581del:p.Asn526_Tyr527insTer	coding	Pathogenic
12	6058027	GGCATAGACGGGGGACAGCTGCAGGAGAGAC	TG	G6058027T	VWF	NM_000552.5(VWF):c.1534-13_1551delinsCA	coding	Pathogenic
12	6058034	A	AAGCTGTCC	C6058035A	VWF	NM_000552.5(VWF):c.1543_1544insGGACAGCT:p.Val515fs	coding	Pathogenic
12	6064359	CA	C	A6064360C	VWF	NM_000552.5(VWF):c.1318del:p.Cys440fs	coding	Pathogenic
12	6065190	G	GC	A6065192C	VWF	NM_000552.5(VWF):c.1239dup:p.Leu414fs	coding	Pathogenic
12	6065216	G	GTGGGAT	A6065219G	VWF	NM_000552.5(VWF):c.1213_1214insATCCCA:p.Phe404_Thr405insAsnPro	coding	Pathogenic
12	6072346	CGA	C	A6072352G	VWF	NM_000552.5(VWF):c.1092_1093del:p.Asp366fs	coding	Pathogenic
12	6075442	TCACA	T	C6075445A	VWF	NM_000552.5(VWF):c.763_766del:p.Cys255fs	coding	Pathogenic
12	6095736	CA	C	A6095737G	VWF	NM_000552.5(VWF):c.533-153del	noncoding	Benign
12	6110479	TGCCATCGATCCTG	T	T6110484C	VWF	NM_000552.5(VWF):c.414_426del:p.Arg139fs	coding	Pathogenic
12	6110876	CCT	C	C6110877G	VWF	NM_000552.5(VWF):c.311_312del:p.Gln104fs	coding	Pathogenic
12	6110912	CA	C	A6110918T	VWF	NM_000552.5(VWF):c.276del:p.Phe92fs	coding	Pathogenic
12	6330119	GCC	G	C6330121T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.769-55_769-54del	noncoding	Benign
12	6333881	CAG	C	A6333884T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.194-18_194-17del	noncoding	Benign/Likely_benign
12	6348771	TGAA	T	A6348777T	SCNN1A	NM_001038.6(SCNN1A):c.1579TTC[1]:p.Phe528del	coding	Pathogenic
12	6362171	TA	T	A6362172C	SCNN1A	NM_001038.6(SCNN1A):c.754del:p.Tyr252fs	coding	Pathogenic
12	6363138	CAAT	C	T6363159A	SCNN1A	NM_001038.6(SCNN1A):c.684+284ATT[6]	noncoding	Benign
12	6363552	CT	C	T6363553C	SCNN1A	NM_001038.6(SCNN1A):c.574del:p.Arg192fs	coding	Pathogenic
12	6444664	TG	T	G6444673T	CD27	Single_allele	noncoding	Benign
12	6444664	T	TG	T6444674G	CD27	Single_allele	noncoding	Benign
12	6445237	A	AG	C6445243G	CD27	NM_001242.5(CD27):c.136+11dup	noncoding	Benign
12	6445550	ACT	A	C6445553G	CD27;CD27-AS1	NM_001242.5(CD27):c.266_267del:p.Ser89fs	coding	Pathogenic
12	6466132	TCTC	T	C6466135A	VAMP1	NM_014231.5(VAMP1):c.129+90_129+92del	noncoding	Benign
12	6466294	AC	A	C6466299A	VAMP1	NM_014231.5(VAMP1):c.59del:p.Gly20fs	coding	Pathogenic
12	6470900	GC	G	C6470901T	VAMP1	Single_allele	noncoding	Benign
12	6800214	TG	T	G6800215C	CD4	NM_000616.5(CD4):c.49+28del	noncoding	Benign
12	6844092	TA	T	A6844093T	GNB3	NM_002075.4(GNB3):c.699+115del	noncoding	Benign/Likely_benign
12	6844092	T	TC	A6844093C	GNB3	NM_002075.4(GNB3):c.699+114_699+115insC	noncoding	Benign/Likely_benign
12	6844093	A	AT	G6844120T	GNB3	NM_002075.4(GNB3):c.699+141dup	noncoding	Benign
12	6844093	AT	A	T6844119G	GNB3	NM_002075.4(GNB3):c.699+141del	noncoding	Benign
12	6844093	ATT	A	T6844118G	GNB3	NM_002075.4(GNB3):c.699+140_699+141del	noncoding	Benign
12	6844093	ATTT	A	T6844117G	GNB3	NM_002075.4(GNB3):c.699+139_699+141del	noncoding	Benign
12	6846697	A	ACC	A6846699C	GNB3	NM_002075.4(GNB3):c.917-94_917-93insCC	noncoding	Benign
12	6846701	C	CCACA	C6846709A	GNB3	NM_002075.4(GNB3):c.917-90CA[5]	noncoding	Benign
12	6867699	AG	A	G6867703T	TPI1	NM_000365.6(TPI1):c.115+22del	noncoding	Benign
12	6936728	ACAG	A	G6936773T	ATN1	NM_001940.4(ATN1):c.1464GCA[14]:p.Gln502del	coding	Benign/Likely_benign
12	6939122	GCACTCCCACATC	G	C6939128G	ATN1	NM_001940.4(ATN1):c.3165_3176del:p.Ile1057_His1060del	coding	Pathogenic
12	6944186	CTAGTCAAGGCATAGGCTGCTGGCCTGGGG	C	A6944199G	C12orf57	NM_138425.4(C12orf57):c.52+26_52+54del	noncoding	Benign/Likely_benign
12	6944474	AGT	A	T6944476G	C12orf57	NM_138425.4(C12orf57):c.53_54del	coding	Pathogenic
12	7062107	T	TA	T7062122A	C1S	NM_001734.5(C1S):c.5+204dup	noncoding	Benign
12	7065079	CTTTCTCTT	C	T7065087G	C1S	NM_001734.5(C1S):c.518-13_518-6del	noncoding	Benign
12	7065361	C	CAAAG	T7065365G	C1S	NM_001734.5(C1S):c.717+65_717+66insGAAA	noncoding	Benign
12	7065539	C	CTTT	A7065551T	C1S	NM_001734.5(C1S):c.717+249_717+251dup	noncoding	Benign
12	7067703	CTTTG	C	T7067708G	C1S	NM_001734.5(C1S):c.1132_1135del:p.Phe378fs	coding	Pathogenic
12	7080480	GT	G	T7080491C	C1R	NM_001733.7(C1R):c.*51del	noncoding	Benign
12	7081476	GT	G	T7081492A	C1R	NM_001733.7(C1R):c.1349-176del	noncoding	Benign
12	7190581	TGAGGTGGAAA	T	A7190583C	PEX5	NM_001351132.2(PEX5):c.147+59_147+68del	noncoding	Benign
12	7190593	CCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGA	C	C7190594G	PEX5	NM_001351132.2(PEX5):c.147+70_147+104del	noncoding	Benign
12	7190869	CTCTG	C	G7190873T	PEX5	NM_001351132.2(PEX5):c.148-15_148-12del	noncoding	Benign
12	7199031	GC	G	C7199034G	PEX5	NM_001351132.2(PEX5):c.472del:p.Arg158fs	coding	Pathogenic
12	7199090	T	TGAGG	A7199097G	PEX5	NM_001351132.2(PEX5):c.531_534dup:p.Thr179fs	coding	Pathogenic
12	7199209	C	CT	A7199228T	PEX5	NM_001351132.2(PEX5):c.551+114dup	noncoding	Benign
12	7199227	T	TA	T7199229A	PEX5	NM_001351132.2(PEX5):c.551+115dup	noncoding	Benign
12	7199227	T	TTA	A7199228T	PEX5	NM_001351132.2(PEX5):c.551+114_551+115insTA	noncoding	Benign
12	7199227	T	TTTA	A7199228T	PEX5	NM_001351132.2(PEX5):c.551+114_551+115insTTA	noncoding	Benign
12	7202663	G	GC	T7202667C	PEX5	NM_001351132.2(PEX5):c.808dup:p.Leu270fs	coding	Pathogenic
12	7203181	ATGC	A	T7203182A	PEX5	NM_001351132.2(PEX5):c.847-250_847-248del	noncoding	Benign
12	7203185	ACTGC	A	C7203186A	PEX5	NM_001351132.2(PEX5):c.847-246_847-243del	noncoding	Benign
12	7203185	ACTGCACTGC	A	C7203186A	PEX5	NM_001351132.2(PEX5):c.847-246_847-238del	noncoding	Benign
12	7203185	ACTGCACTGCACTGC	A	C7203186A	PEX5	NM_001351132.2(PEX5):c.847-246_847-233del	noncoding	Benign
12	7203224	CATT	C	T7203226C	PEX5	NM_001351132.2(PEX5):c.847-206_847-204del	noncoding	Benign
12	7203570	G	GT	C7203576T	PEX5	NM_001351132.2(PEX5):c.966+24dup	noncoding	Benign
12	7208537	A	AG	C7208540G	PEX5	NM_001351132.2(PEX5):c.1264dup:p.Ala422fs	coding	Pathogenic
12	7208679	A	AG	T7208684G	PEX5	NM_001351132.2(PEX5):c.1394+14dup	noncoding	Benign
12	7209079	T	TAC	G7209080A	PEX5	NM_001351132.2(PEX5):c.1469_1470insAC:p.Gln491fs	coding	Pathogenic
12	7209129	GCCGTGGA	G	C7209131T	PEX5	NM_001351132.2(PEX5):c.1521_1527del:p.Val508fs	coding	Pathogenic
12	8604496	TAAAAA	T	A8604519G	AICDA	NM_020661.4(AICDA):c.544-164_544-160del	noncoding	Benign
12	8604496	TAA	T	A8604522G	AICDA	NM_020661.4(AICDA):c.544-161_544-160del	noncoding	Benign
12	8604496	TA	T	A8604523G	AICDA	NM_020661.4(AICDA):c.544-160del	noncoding	Benign
12	8650606	C	CA	T8650614A	MFAP5	NM_003480.4(MFAP5):c.248-18dup	noncoding	Benign
12	8654126	C	CAAA	T8654147A	MFAP5	NM_003480.4(MFAP5):c.217+291_217+293dup	noncoding	Benign
12	8654126	C	CAA	T8654147A	MFAP5	NM_003480.4(MFAP5):c.217+291_217+292dup	noncoding	Benign
12	8655386	A	AT	A8655397T	MFAP5	NM_003480.4(MFAP5):c.172+19dup	noncoding	Benign
12	8660749	CT	C	T8660765G	MFAP5	NM_003480.4(MFAP5):c.94+113del	noncoding	Benign
12	8662689	T	TA	C8662691A	MFAP5	NM_003480.4(MFAP5):c.-66dup	noncoding	Benign
12	8829654	CAAAA	C	A8829673T	A2ML1	NM_144670.6(A2ML1):c.410-54_410-51del	noncoding	Benign
12	8829654	CA	C	A8829676T	A2ML1	NM_144670.6(A2ML1):c.410-51del	noncoding	Benign
12	8829654	C	CA	T8829677A	A2ML1	NM_144670.6(A2ML1):c.410-51dup	noncoding	Benign
12	8836012	CA	C	A8836034T	A2ML1	NM_144670.6(A2ML1):c.644-221del	noncoding	Benign
12	8836012	C	CA	T8836035A	A2ML1	NM_144670.6(A2ML1):c.644-221dup	noncoding	Benign
12	8836481	C	CT	G8836501T	A2ML1	NM_144670.6(A2ML1):c.728+161dup	noncoding	Benign
12	8836481	CT	C	T8836500G	A2ML1	NM_144670.6(A2ML1):c.728+161del	noncoding	Benign
12	8838914	TA	T	A8838936G	A2ML1	NM_144670.6(A2ML1):c.971-177del	noncoding	Benign
12	8838914	T	TA	G8838937A	A2ML1	NM_144670.6(A2ML1):c.971-177dup	noncoding	Benign
12	8843376	CG	C	G8843380A	A2ML1	NM_144670.6(A2ML1):c.1476+19del	noncoding	Benign
12	8845862	AAATAAATAAAATAAAATAAAATAAAAT	A	T8845865A	A2ML1	NM_144670.6(A2ML1):c.1538-212_1538-186del	noncoding	Benign
12	8845863	AATAAATAAAATAAAATAAAATAAAAT	A	T8845865A	A2ML1	NM_144670.6(A2ML1):c.1538-212_1538-187del	noncoding	Benign
12	8845864	AT	A	T8845865A	A2ML1	NM_144670.6(A2ML1):c.1538-212del	noncoding	Benign
12	8845865	T	TAAATA	A8845894T	A2ML1	NM_144670.6(A2ML1):c.1538-211AAATA[6]	noncoding	Benign
12	8845865	T	TAAATAAAATA	A8845894T	A2ML1	NM_144670.6(A2ML1):c.1538-211AAATA[7]	noncoding	Benign
12	8845867	AATAAAATAAAATAAAATAAAAT	A	T8845869A	A2ML1	NM_144670.6(A2ML1):c.1538-208_1538-187del	noncoding	Benign
12	8847245	TAAA	T	A8847262G	A2ML1	NM_144670.6(A2ML1):c.1684-287_1684-285del	noncoding	Benign
12	8847245	TA	T	A8847264G	A2ML1	NM_144670.6(A2ML1):c.1684-285del	noncoding	Benign
12	8847245	T	TA	G8847265A	A2ML1	NM_144670.6(A2ML1):c.1684-285dup	noncoding	Benign
12	8854629	GAGTTCTTCTGAGCTTC	G	T8854633G	A2ML1	NM_144670.6(A2ML1):c.2713-147_2713-132del	noncoding	Benign
12	8856898	C	CTT	G8856918T	A2ML1	NM_144670.6(A2ML1):c.2849-248_2849-247dup	noncoding	Benign
12	8856898	CTT	C	T8856916G	A2ML1	NM_144670.6(A2ML1):c.2849-248_2849-247del	noncoding	Benign
12	8856898	CTTT	C	T8856915G	A2ML1	NM_144670.6(A2ML1):c.2849-249_2849-247del	noncoding	Benign
12	8856898	CTTTT	C	T8856914G	A2ML1	NM_144670.6(A2ML1):c.2849-250_2849-247del	noncoding	Benign
12	8856898	CTTTTTTT	C	T8856911G	A2ML1	NM_144670.6(A2ML1):c.2849-253_2849-247del	noncoding	Benign
12	8863667	AT	A	T8863675C	A2ML1	NM_144670.6(A2ML1):c.3503-119del	noncoding	Benign
12	8864200	CT	C	T8864211G	A2ML1	NM_144670.6(A2ML1):c.3717+203del	noncoding	Benign
12	8867647	GA	G	A8867660G	A2ML1	NM_144670.6(A2ML1):c.3718-182del	noncoding	Benign
12	8868367	GCT	G	C8868368G	A2ML1	NM_144670.6(A2ML1):c.4061+11_4061+12del	noncoding	Benign/Likely_benign
12	8868457	C	CGTGTGT	T8868476G	A2ML1	NM_144670.6(A2ML1):c.4062-79GT[12]	noncoding	Benign
12	8868457	C	CGTGT	T8868476G	A2ML1	NM_144670.6(A2ML1):c.4062-79GT[11]	noncoding	Benign
12	8868457	C	CGT	T8868476G	A2ML1	NM_144670.6(A2ML1):c.4062-79GT[10]	noncoding	Benign
12	8868720	T	TAC	A8868736C	A2ML1	NM_144670.6(A2ML1):c.4152+94AC[8]	noncoding	Benign
12	8869446	GAC	G	C8869450T	A2ML1	NM_144670.6(A2ML1):c.4221+247_4221+248del	noncoding	Benign
12	11267400	A	AG	T11267403G	PRB3	NM_001394862.1(PRB3):c.848dup:p.His284fs	coding	Pathogenic
12	11650344	T	TC	A11650352C	ETV6	NM_001987.5(ETV6):c.33+191dup	noncoding	Benign
12	11650349	C	CG	C11650350G	ETV6	NM_001987.5(ETV6):c.33+189_33+190insG	noncoding	Benign
12	11869241	GA	G	A11869255T	ETV6	NM_001987.5(ETV6):c.464-169del	noncoding	Benign
12	11869241	G	GA	T11869256A	ETV6	NM_001987.5(ETV6):c.464-169dup	noncoding	Benign
12	11885915	TGAACAAACAGAACA	T	G11885925T	ETV6	NM_001987.5(ETV6):c.1153-1_1165del	noncoding	Pathogenic
12	11885923	CAGAACAGAACAAACA	C	A11885924T	ETV6	NM_001987.5(ETV6):c.1153-2_1165del	noncoding	Pathogenic
12	11890591	A	AT	G11890605T	ETV6	NM_001987.5(ETV6):c.1254-337dup	noncoding	Benign
12	12124372	C	CA	T12124379A	LRP6	NM_002336.3(LRP6):c.4547+187dup	noncoding	Benign
12	12131097	AT	A	T12131125G	LRP6	NM_002336.3(LRP6):c.3971-205del	noncoding	Benign
12	12135180	CAT	C	A12135181G	LRP6	NM_002336.3(LRP6):c.3726_3727del:p.Cys1243fs	coding	Pathogenic
12	12135479	CATTATTATTATT	C	A12135498T	LRP6	NM_002336.3(LRP6):c.3608-209AAT[6]	noncoding	Benign
12	12135479	CATT	C	A12135507T	LRP6	NM_002336.3(LRP6):c.3608-209AAT[9]	noncoding	Benign
12	12135479	C	CATTATTATT	T12135510A	LRP6	NM_002336.3(LRP6):c.3608-209AAT[13]	noncoding	Benign
12	12138532	CA	C	A12138533C	LRP6	NM_002336.3(LRP6):c.3399del:p.Ala1134fs	coding	Pathogenic
12	12138637	G	GA	C12138648A	LRP6	NM_002336.3(LRP6):c.3398-113dup	noncoding	Benign
12	12147367	TGA	T	G12147372T	LRP6	NM_002336.3(LRP6):c.3394_3395del:p.Ser1132fs	coding	Pathogenic
12	12148943	C	CT	C12148947T	LRP6	NM_002336.3(LRP6):c.3204dup:p.Gly1069fs	coding	Pathogenic
12	12159235	G	GA	G12159246A	LRP6	NM_002336.3(LRP6):c.2465-90dup	noncoding	Benign
12	12159366	CTT	C	T12159367A	LRP6	NM_002336.3(LRP6):c.2465-213_2465-212del	noncoding	Benign
12	12161952	T	TTTGA	A12161955G	LRP6	NM_002336.3(LRP6):c.2279+240_2279+241insAATC	noncoding	Benign
12	12162044	C	CAATT	A12162048T	LRP6	NM_002336.3(LRP6):c.2279+148_2279+149insATTA	noncoding	Benign
12	12164128	TA	T	A12164145C	LRP6	NM_002336.3(LRP6):c.2052+144del	noncoding	Benign
12	12164128	T	TA	C12164146A	LRP6	NM_002336.3(LRP6):c.2052+128dup	noncoding	Benign
12	12180240	C	CT	A12180261T	LRP6	NM_002336.3(LRP6):c.1374-279dup	noncoding	Benign
12	12180240	C	CTT	A12180261T	LRP6	NM_002336.3(LRP6):c.1374-279_1374-278dup	noncoding	Benign
12	12184080	ACC	A	C12184084A	LRP6	NM_002336.3(LRP6):c.874_875del:p.Gly292fs	coding	Pathogenic
12	12184379	AG	A	G12184380C	LRP6	NM_002336.3(LRP6):c.845-269del	noncoding	Benign
12	12184389	A	AAAAC	A12184413C	LRP6	NM_002336.3(LRP6):c.845-298GTTT[6]	noncoding	Benign
12	12184409	C	CAAAA	C12184414A	LRP6	NM_002336.3(LRP6):c.845-302_845-299dup	noncoding	Benign
12	12717852	C	CGA	T12717856A	CDKN1B	NM_004064.5(CDKN1B):c.15_16dup:p.Val6fs	coding	Pathogenic
12	12717859	C	CT	A12717861T	CDKN1B	NM_004064.5(CDKN1B):c.21dup:p.Asn8Ter	coding	Pathogenic/Likely_pathogenic
12	12717918	TCG	T	C12717919G	CDKN1B	NM_004064.5(CDKN1B):c.80_81del:p.Ser27fs	coding	Pathogenic
12	12717924	T	TG	C12717926G	CDKN1B	NM_004064.5(CDKN1B):c.86dup:p.Cys29fs	coding	Pathogenic
12	12717967	G	CA	G12717967C	CDKN1B	NM_004064.5(CDKN1B):c.128delinsCA:p.Arg43fs	coding	Pathogenic
12	12718012	GC	G	C12718013A	CDKN1B	NM_004064.5(CDKN1B):c.174del:p.Lys59fs	coding	Pathogenic
12	12718021	A	AT	C12718025T	CDKN1B	NM_004064.5(CDKN1B):c.185dup:p.Asp63fs	coding	Pathogenic
12	12718024	TC	T	C12718025G	CDKN1B	NM_004064.5(CDKN1B):c.186del:p.Phe62fs	coding	Pathogenic
12	12718037	TCA	T	C12718040A	CDKN1B	NM_004064.5(CDKN1B):c.201_202del:p.His67fs	coding	Pathogenic
12	12718047	CT	C	T12718048A	CDKN1B	NM_004064.5(CDKN1B):c.209del:p.Leu70fs	coding	Pathogenic
12	12718051	A	AG	C12718055G	CDKN1B	NM_004064.5(CDKN1B):c.215dup:p.Lys73fs	coding	Pathogenic/Likely_pathogenic
12	12718065	T	TA	G12718066A	CDKN1B	NM_004064.5(CDKN1B):c.226_227insA:p.Trp76Ter	coding	Pathogenic
12	12718104	TAC	T	C12718106G	CDKN1B	NM_004064.5(CDKN1B):c.267_268del:p.Tyr89_Arg90delinsTer	coding	Pathogenic
12	12718114	CG	C	G12718115C	CDKN1B	NM_004064.5(CDKN1B):c.276del:p.Arg93fs	coding	Pathogenic
12	12718164	GT	G	T12718165C	CDKN1B	NM_004064.5(CDKN1B):c.326del:p.Val109fs	coding	Pathogenic
12	12718223	G	GC	A12718225C	CDKN1B	NM_004064.5(CDKN1B):c.385dup:p.His129fs	coding	Pathogenic
12	12718225	ATTTGG	A	T12718227G	CDKN1B	NM_004064.5(CDKN1B):c.388_392del:p.Leu130fs	coding	Pathogenic
12	12718247	TC	T	C12718249G	CDKN1B	NM_004064.5(CDKN1B):c.410del:p.Pro137fs	coding	Pathogenic
12	12718819	GC	AT	G12718819A	CDKN1B	NM_004064.5(CDKN1B):c.476-6_476-5delinsAT	noncoding	Benign/Likely_benign
12	13563400	T	TAGTGGTGGAGGCGTTTGACGTCACCGCCACTGGGGCAGCCGGCTGGTCC	T13563453G	GRIN2B	NM_000834.5(GRIN2B):c.3789_3837dup:p.Lys1280delinsGlyProAlaGlyCysProSerGlyGlyAspValLysArgLeuHisHisTer	coding	Pathogenic
12	13564862	A	AG	C13564871G	GRIN2B	NM_000834.5(GRIN2B):c.2599-231dup	noncoding	Benign
12	13570026	G	GA	G13570033A	GRIN2B	NM_000834.5(GRIN2B):c.2172-15dup	noncoding	Benign
12	13608601	AC	A	C13608603T	GRIN2B	NM_000834.5(GRIN2B):c.2010+1del	noncoding	Pathogenic
12	13608895	CA	C	A13608898T	GRIN2B	NM_000834.5(GRIN2B):c.1781-64del	noncoding	Benign
12	13608987	ATC	A	C13608993T	GRIN2B	NM_000834.5(GRIN2B):c.1781-161GA[2]	noncoding	Benign
12	13611861	G	GA	G13611868A	GRIN2B	NM_000834.5(GRIN2B):c.1655-12dup	noncoding	Benign/Likely_benign
12	13615493	C	CTCTCCAATCATACCATTCCAGGT	C13615519T	GRIN2B	NM_000834.5(GRIN2B):c.1477_1499dup:p.Glu500_Val501insProGlyMetValTer	coding	Pathogenic
12	13753330	TG	T	G13753332A	GRIN2B	NM_000834.5(GRIN2B):c.996del:p.Asn333fs	coding	Pathogenic
12	13866109	TG	T	G13866116C	GRIN2B	NM_000834.5(GRIN2B):c.99del:p.Ser34fs	coding	Pathogenic
12	13980116	CA	C	A13980127G	GRIN2B	NM_000834.5(GRIN2B):c.-208del	noncoding	Benign
12	14628744	GA	G	A14628753C	GUCY2C	NM_004963.4(GUCY2C):c.2158-8del	noncoding	Benign
12	14628744	G	GAA	C14628754A	GUCY2C	NM_004963.4(GUCY2C):c.2158-16_2158-15dup	noncoding	Benign
12	14643886	CT	C	T14643889A	GUCY2C	NM_004963.4(GUCY2C):c.1798-181del	noncoding	Benign
12	14645324	GA	G	A14645330G	GUCY2C	NM_004963.4(GUCY2C):c.1711-10del	noncoding	Benign
12	14652163	A	ATATTTATT	T14652189A	GUCY2C	NM_004963.4(GUCY2C):c.1534-157AATA[8]	noncoding	Benign
12	14672893	T	TA	T14672895A	GUCY2C	NM_004963.4(GUCY2C):c.1149dup:p.Thr384fs	coding	Pathogenic
12	14674529	AATC	A	A14674533T	GUCY2C	NM_004963.4(GUCY2C):c.1084+93_1084+95del	noncoding	Benign
12	14679896	CT	C	T14679907C	GUCY2C	NM_004963.4(GUCY2C):c.734-144del	noncoding	Benign
12	14687932	CA	C	A14687933C	GUCY2C	NM_004963.4(GUCY2C):c.330+18del	noncoding	Benign
12	14688260	T	TTCTC	A14688277T	GUCY2C	NM_004963.4(GUCY2C):c.218-213GA[10]	noncoding	Benign
12	14796786	C	CA	C14796797A	WBP11	NM_016312.3(WBP11):c.387+11dup	noncoding	Benign
12	14882712	GA	G	A14882713T	MGP	NM_000900.5(MGP):c.170+259del	noncoding	Benign
12	14882713	A	ATT	A14882730T	MGP	NM_000900.5(MGP):c.170+243_170+244dup	noncoding	Benign
12	14884253	TA	T	A14884263G	MGP	NM_000900.5(MGP):c.62-9del	noncoding	Benign/Likely_benign
12	14884253	T	TAA	G14884264A	MGP	NM_000900.5(MGP):c.62-10_62-9dup	noncoding	Benign
12	15565450	G	GTAAT	A15565454T	PTPRO	NM_030667.3(PTPRO):c.2712-140_2712-139insTTAA	noncoding	Benign
12	15578790	T	TG	T15578791G	PTPRO	NM_030667.3(PTPRO):c.2830-63_2830-62insG	noncoding	Benign
12	15580123	GA	G	A15580133T	PTPRO	NM_030667.3(PTPRO):c.2997+18del	noncoding	Benign
12	15581543	G	GTTGTA	T15581546G	PTPRO	NM_030667.3(PTPRO):c.3133-134_3133-133insGTATT	noncoding	Benign
12	15641021	CA	C	A15641022G	EPS8	NM_004447.6(EPS8):c.1678-176del	noncoding	Benign
12	15650808	T	TA	C15650819A	EPS8	NM_004447.6(EPS8):c.1434+14dup	noncoding	Benign
12	15669440	CT	C	T15669443G	EPS8	NM_004447.6(EPS8):c.462del:p.Glu155fs	coding	Pathogenic
12	15669493	TG	T	G15669495C	EPS8	NM_004447.6(EPS8):c.409del:p.Gln137fs	coding	Pathogenic
12	18282464	GCCC	G	C18282466A	PIK3C2G	NM_001288772.2(PIK3C2G):c.385_387del:p.Pro129del	coding	Benign
12	20370389	G	GT	G20370400T	PDE3A	NM_000921.5(PDE3A):c.960+155dup	noncoding	Benign
12	20370408	TG	T	G20370409T	PDE3A	NM_000921.5(PDE3A):c.960+165del	noncoding	Benign
12	20650823	T	TG	A20650829G	PDE3A	NM_000921.5(PDE3A):c.2925+228dup	noncoding	Benign
12	20679863	AGTATTATAATATATATATTATATATATAATAATATATATATAATATAATATAATAT	A	G20679864A	PDE3A	NM_000921.5(PDE3A):c.3185-166_3185-111del	noncoding	Benign
12	20679907	TATA	T	A20679911T	PDE3A	NM_000921.5(PDE3A):c.3185-119_3185-117del	noncoding	Benign
12	20679921	A	AC	T20679922C	PDE3A	NM_000921.5(PDE3A):c.3185-109_3185-108insC	noncoding	Benign
12	20815710	AATATTCACTTGGTATCTG	A	A20815711T	SLCO1B3	NM_019844.4(SLCO1B3):c.-28_-11del	noncoding	Benign
12	20883554	C	CT	G20883558T	SLCO1B3;SLCO1B3-SLCO1B7	NM_019844.4(SLCO1B3):c.1637dup:p.Leu546fs	coding	Pathogenic
12	21141292	AATTT	A	A21141297T	SLCO1B1	NM_006446.5(SLCO1B1):c.-61-217_-61-214del	noncoding	Benign
12	21178455	TTACTTG	T	C21178464A	SLCO1B1	NM_006446.5(SLCO1B1):c.482-112_482-107del	noncoding	Benign
12	21437748	TC	T	C21437753G	PYROXD1	NM_024854.5(PYROXD1):c.23del:p.Pro8fs	coding	Pathogenic
12	21449364	AT	A	T21449367A	PYROXD1	NM_024854.5(PYROXD1):c.286-196del	noncoding	Benign
12	21452182	C	CAT	T21452185A	PYROXD1	NM_024854.5(PYROXD1):c.488+29_488+30dup	noncoding	Benign
12	21455462	TTA	T	T21455477A	PYROXD1	NM_024854.5(PYROXD1):c.649+171TA[7]	noncoding	Benign
12	21461171	G	GA	T21461178A	PYROXD1	NM_024854.5(PYROXD1):c.880+23dup	noncoding	Benign
12	21461207	CAATTT	C	T21461211C	PYROXD1	NM_024854.5(PYROXD1):c.880+57_880+61del	noncoding	Benign
12	21461319	ACTGT	A	C21461324T	PYROXD1	NM_024854.5(PYROXD1):c.880+170_880+173del	noncoding	Benign
12	21461991	G	GT	C21462001T	PYROXD1	NM_024854.5(PYROXD1):c.881-8dup	noncoding	Benign
12	21461991	G	GTT	C21462001T	PYROXD1	NM_024854.5(PYROXD1):c.881-9_881-8dup	noncoding	Benign
12	21462016	CCTGT	C	G21462019A	PYROXD1	NM_024854.5(PYROXD1):c.892_895del:p.Val298fs	coding	Pathogenic
12	21462460	CAA	C	A21462472G	PYROXD1	NM_024854.5(PYROXD1):c.994-268_994-267del	noncoding	Benign
12	21462460	CA	C	A21462473G	PYROXD1	NM_024854.5(PYROXD1):c.994-267del	noncoding	Benign
12	21462983	C	CAG	T21462986A	PYROXD1	NM_024854.5(PYROXD1):c.1116+122_1116+123dup	noncoding	Benign
12	21463132	CAGG	C	G21463135A	PYROXD1	NM_024854.5(PYROXD1):c.1116+273_1116+275del	noncoding	Benign
12	21470350	CA	C	A21470366C	RECQL	NM_002907.4(RECQL):c.1798-5del	coding	Benign
12	21470350	C	CAAA	C21470367A	RECQL	NM_002907.4(RECQL):c.1798-20_1798-18dup	coding	Benign
12	21470350	C	CAA	C21470367A	RECQL	NM_002907.4(RECQL):c.1798-20_1798-19dup	coding	Benign
12	21470350	C	CA	C21470367A	RECQL	NM_002907.4(RECQL):c.1798-20dup	coding	Benign
12	21470951	AAATT	A	T21470955A	RECQL	NM_002907.4(RECQL):c.1797+14_1797+17del	coding	Benign
12	21471104	GA	G	A21471108T	RECQL	NM_002907.4(RECQL):c.1668-7del	coding	Benign
12	21471374	TA	T	A21471383C	RECQL	NM_002907.4(RECQL):c.1667+53del	noncoding	Benign
12	21471760	TA	T	A21471763C	RECQL	NM_002907.4(RECQL):c.1448-114del	noncoding	Benign
12	21477789	TA	T	A21477794T	RECQL	NM_002907.4(RECQL):c.867+13del	noncoding	Benign
12	21477972	GA	G	A21477978C	RECQL	NM_002907.4(RECQL):c.701-4del	noncoding	Benign/Likely_benign
12	21486451	TA	T	A21486463G	RECQL	NM_002907.4(RECQL):c.501+27del	noncoding	Benign
12	21486594	GAAAA	G	A21486604T	RECQL	NM_002907.4(RECQL):c.395-13_395-10del	noncoding	Benign
12	21486594	GAA	G	A21486606T	RECQL	NM_002907.4(RECQL):c.395-11_395-10del	noncoding	Benign
12	21486594	GA	G	A21486607T	RECQL	NM_002907.4(RECQL):c.395-10del	noncoding	Benign
12	21486594	G	GAAAA	T21486608A	RECQL	NM_002907.4(RECQL):c.395-22_395-19dup	noncoding	Benign/Likely_benign
12	21486594	G	GAA	T21486608A	RECQL	NM_002907.4(RECQL):c.395-22_395-21dup	noncoding	Benign
12	21486594	G	GA	T21486608A	RECQL	NM_002907.4(RECQL):c.395-22dup	noncoding	Benign
12	21486655	A	AC	G21486657C	RECQL	NM_002907.4(RECQL):c.395-71dup	noncoding	Benign
12	21490182	A	AT	A21490190T	RECQL	NM_002907.4(RECQL):c.394+16dup	noncoding	Benign
12	21491494	CAA	C	A21491511G	RECQL	NM_002907.4(RECQL):c.214+23_214+24del	noncoding	Benign
12	21491494	CA	C	A21491512G	RECQL	NM_002907.4(RECQL):c.214+24del	noncoding	Benign
12	21491494	C	CA	G21491513A	RECQL	NM_002907.4(RECQL):c.214+7dup	noncoding	Benign
12	21501530	CGATCTCCGACTCTCG	C	T21501541A	RECQL	NM_002907.4(RECQL):c.-421_-407del	noncoding	Benign
12	21539232	CA	C	A21539241T	GYS2	NM_021957.4(GYS2):c.1890+25del	noncoding	Benign/Likely_benign
12	21559177	G	GA	T21559184A	GYS2	NM_021957.4(GYS2):c.1230-14dup	noncoding	Benign
12	21559794	GACATTCTTTGAAATT	G	T21559813G	GYS2	NM_021957.4(GYS2):c.1170-99_1170-85del	noncoding	Benign
12	21560456	TGAAAA	T	G21560457A	GYS2	NM_021957.4(GYS2):c.1094_1098del:p.Phe365fs	coding	Pathogenic
12	21562698	CAAAAA	C	A21562717G	GYS2	NM_021957.4(GYS2):c.1062+215_1062+219del	noncoding	Benign
12	21773929	CTTAG	C	G21773933A	KCNJ8	NM_004982.4(KCNJ8):c.-70-247_-70-244del	noncoding	Benign
12	21774330	C	CT	A21774351T	KCNJ8	NM_004982.4(KCNJ8):c.-71+196dup	noncoding	Benign
12	21774330	CTT	C	T21774349A	KCNJ8	NM_004982.4(KCNJ8):c.-71+214_-71+215del	noncoding	Benign
12	21814588	GT	G	T21814595A	ABCC9	NM_020297.4(ABCC9):c.4102+55del	noncoding	Benign
12	21818458	ATATATC	A	A21818480C	ABCC9	NM_020297.4(ABCC9):c.3670-231GATATA[3]	noncoding	Benign
12	21818478	ATATC	A	C21818486A	ABCC9	NM_020297.4(ABCC9):c.3670-231_3670-228del	noncoding	Benign
12	21818526	A	ATG	A21818563T	ABCC9	NM_020297.4(ABCC9):c.3670-311CA[19]	noncoding	Benign
12	21818526	A	ATGTGTG	A21818563T	ABCC9	NM_020297.4(ABCC9):c.3670-311CA[21]	noncoding	Benign
12	21818526	ATG	A	T21818561A	ABCC9	NM_020297.4(ABCC9):c.3670-311CA[17]	noncoding	Benign
12	21818526	ATGTG	A	T21818559A	ABCC9	NM_020297.4(ABCC9):c.3670-311CA[16]	noncoding	Benign
12	21829191	C	CT	C21829220T	ABCC9	NM_020297.4(ABCC9):c.3567-159dup	noncoding	Benign
12	21829191	C	CTT	C21829220T	ABCC9	NM_020297.4(ABCC9):c.3567-159_3567-158dup	noncoding	Benign
12	21829191	CTTTT	C	T21829216C	ABCC9	NM_020297.4(ABCC9):c.3567-135_3567-132del	noncoding	Benign
12	21829191	CTTTTTTTTT	C	T21829211C	ABCC9	NM_020297.4(ABCC9):c.3567-140_3567-132del	noncoding	Benign
12	21845137	C	CT	A21845140T	ABCC9	NM_020297.4(ABCC9):c.3097-224dup	noncoding	Benign
12	21845348	ACT	A	C21845353T	ABCC9	NM_020297.4(ABCC9):c.3096+249AG[2]	noncoding	Benign
12	21848088	T	TA	C21848095A	ABCC9	NM_020297.4(ABCC9):c.2866+56dup	noncoding	Benign
12	21861230	C	CAT	C21861231A	ABCC9	NM_020297.4(ABCC9):c.2340-176_2340-175insAT	noncoding	Benign
12	21863070	GAA	G	A21863080C	ABCC9	NM_020297.4(ABCC9):c.2238-18_2238-17del	noncoding	Benign
12	21863070	G	GA	C21863082A	ABCC9	NM_020297.4(ABCC9):c.2238-17dup	noncoding	Benign
12	21912765	G	GAA	G21912773A	ABCC9	NM_020297.4(ABCC9):c.1011+100_1011+101dup	noncoding	Benign
12	21912765	G	GA	G21912773A	ABCC9	NM_020297.4(ABCC9):c.1011+100dup	noncoding	Benign
12	21913072	G	GA	G21913083A	ABCC9	NM_020297.4(ABCC9):c.817-16dup	noncoding	Benign
12	23604414	GC	G	C23604415T	SOX5	NM_006940.6(SOX5):c.1136del:p.Ser379fs	coding	Pathogenic
12	23734738	C	CT	G23734740T	SOX5	NM_006940.6(SOX5):c.755dup:p.Gln253fs	coding	Pathogenic
12	23846030	G	GT	G23846032T	SOX5	NM_006940.6(SOX5):c.433dup:p.Thr145fs	coding	Pathogenic
12	24368561	AC	A	C24368565A	SOX5	NM_152989.5(SOX5):c.-99+1del	noncoding	Benign/Likely_benign
12	25225291	TATATATATATATATA	T	A25225292T	KRAS	NM_004985.5(KRAS):c.450+308_450+322del	noncoding	Benign
12	25225291	TATATATATATATATATA	T	A25225292T	KRAS	NM_004985.5(KRAS):c.450+306_450+322del	noncoding	Benign
12	25225291	TATATATATATATATATATA	T	A25225292T	KRAS	NM_004985.5(KRAS):c.450+304_450+322del	noncoding	Benign
12	25225291	TATATATATATATATATATATATA	T	A25225292T	KRAS	NM_004985.5(KRAS):c.450+300_450+322del	noncoding	Benign
12	25225291	TATATATATATATATATATATATATA	T	A25225292T	KRAS	NM_004985.5(KRAS):c.450+298_450+322del	noncoding	Benign
12	25227326	T	TAGCAGGTCA	G25227327A	KRAS	NM_004985.5(KRAS):c.197_198insTGACCTGCT:p.Ala66_Met67insAspLeuLeu	coding	Pathogenic
12	25227329	A	ACTGTACTGGTCCCTCATTGCC	C25227337G	KRAS	NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG:p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr	coding	Pathogenic
12	25245348	CA	GC	C25245348G	KRAS	NM_004985.5(KRAS):c.36_37delinsGC:p.Gly13Arg	coding	Pathogenic
12	25245351	CA	AG	C25245351A	KRAS	NM_004985.5(KRAS):c.33_34delinsCT:p.Gly12Cys	coding	Pathogenic
12	25250767	G	GGAGCCGCTGAGCCTCTGGCC	C25250788G	KRAS	NM_033360.4(KRAS):c.-48_-29dup	noncoding	Benign/Likely_benign
12	27673811	AAG	A	G27673815C	PPFIBP1	NM_003622.4(PPFIBP1):c.1368_1369del:p.Glu456fs	coding	Pathogenic
12	27676429	ACAGAGCTCCGG	A	G27676434A	PPFIBP1	NM_003622.4(PPFIBP1):c.1417_1427del:p.Ala473fs	coding	Pathogenic
12	27689171	TA	T	A27689172T	PPFIBP1	NM_003622.4(PPFIBP1):c.2654del:p.Tyr885fs	coding	Pathogenic
12	27958386	C	CA	T27958397A	PTHLH	NM_198965.2(PTHLH):c.*172dup	noncoding	Benign
12	27963664	CT	C	T27963665G	PTHLH	NM_198965.2(PTHLH):c.207del:p.Ala70fs	coding	Pathogenic
12	27969723	ACACAGC	A	C27969726G	PTHLH	NM_198965.2(PTHLH):c.-22-213_-22-208del	noncoding	Benign
12	30636973	AGACTT	A	G30636974T	IPO8	NM_006390.4(IPO8):c.2695+4_2695+8del	noncoding	Pathogenic
12	30636974	GACTTT	G	T30636977C	IPO8	NM_006390.4(IPO8):c.2695+3_2695+7del	noncoding	Pathogenic
12	30637075	GGAAAA	G	A30637079T	IPO8	NM_006390.4(IPO8):c.2597_2601del:p.Leu866fs	coding	Pathogenic
12	30639634	CAAGGCAGCAATTGCAACCTGAAG	C	A30639636C	IPO8	NM_006390.4(IPO8):c.2347_2369del:p.Leu783fs	coding	Pathogenic
12	30639724	GA	G	A30639725G	IPO8	NM_006390.4(IPO8):c.2279del:p.Leu760fs	coding	Pathogenic
12	30663544	AG	A	G30663546C	IPO8	NM_006390.4(IPO8):c.1538del:p.Pro513fs	coding	Pathogenic
12	30671005	A	AC	T30671010C	IPO8	NM_006390.4(IPO8):c.1000dup:p.Val334fs	coding	Pathogenic
12	30674705	TCCACCATA	T	C30674709G	IPO8	NM_006390.4(IPO8):c.770_777del:p.Val257fs	coding	Pathogenic
12	30676498	AG	A	G30676500A	IPO8	NM_006390.4(IPO8):c.728del:p.Pro243fs	coding	Pathogenic
12	31094622	C	CT	G31094624T	DDX11	NM_030653.4(DDX11):c.1403dup:p.Ser469fs	coding	Pathogenic
12	31097978	C	CG	T31097985G	DDX11	NM_030653.4(DDX11):c.1862dup:p.Thr622fs	coding	Pathogenic
12	32581674	AAAAT	A	A32581685G	FGD4	NM_001370298.3(FGD4):c.504-285AAAT[2]	noncoding	Benign
12	32582069	TC	T	C32582072A	FGD4	NM_001370298.3(FGD4):c.616del:p.Gln206fs	coding	Pathogenic
12	32608103	C	CT	G32608113T	FGD4	NM_001370298.3(FGD4):c.1543+17dup	noncoding	Benign
12	32624482	C	CT	G32624494T	FGD4	NM_001370298.3(FGD4):c.1953+41dup	noncoding	Benign
12	32624482	C	CTT	G32624494T	FGD4	NM_001370298.3(FGD4):c.1953+40_1953+41dup	noncoding	Benign
12	32625269	C	CT	A32625290T	FGD4	NM_001370298.3(FGD4):c.2046+221dup	noncoding	Benign
12	32625269	CT	C	T32625289A	FGD4	NM_001370298.3(FGD4):c.2046+221del	noncoding	Benign
12	32625289	T	TTA	A32625290T	FGD4	NM_001370298.3(FGD4):c.2046+221_2046+222insTA	noncoding	Benign
12	32625710	GT	G	T32625711G	FGD4	NM_001370298.3(FGD4):c.2104del:p.Cys702fs	coding	Pathogenic
12	32633222	AG	A	G32633227T	FGD4	NM_001370298.3(FGD4):c.2173-322del	noncoding	Benign
12	32633626	CTG	C	G32633628T	FGD4	NM_001370298.3(FGD4):c.2252_2253del:p.Cys751fs	coding	Pathogenic
12	32638783	T	TG	T32638786G	FGD4	NM_001370298.3(FGD4):c.2444dup:p.Ala816fs	coding	Pathogenic
12	32640401	CAGTG	C	T32640404G	FGD4	NM_001370298.3(FGD4):c.2583_2586del:p.Ser861fs	coding	Pathogenic
12	32679533	TGCCCACTCCCGCGCCAGC	T	G32679552C	DNM1L	NM_012062.5(DNM1L):c.102+87_102+104del	noncoding	Benign
12	32701276	CA	C	A32701291T	DNM1L	NM_012062.5(DNM1L):c.103-124del	noncoding	Benign
12	32701276	C	CA	T32701292A	DNM1L	NM_012062.5(DNM1L):c.103-124dup	noncoding	Benign
12	32701709	T	TA	G32701718A	DNM1L	NM_012062.5(DNM1L):c.250+155dup	noncoding	Benign
12	32707356	C	CT	C32707363T	DNM1L	NM_012062.5(DNM1L):c.251-5dup	noncoding	Benign
12	32718954	A	AT	G32718970T	DNM1L	NM_012062.5(DNM1L):c.740+206dup	noncoding	Benign
12	32718954	AT	A	T32718969G	DNM1L	NM_012062.5(DNM1L):c.740+206del	noncoding	Benign
12	32722587	TG	T	G32722588T	DNM1L	NM_012062.5(DNM1L):c.1034del:p.Cys345fs	coding	Pathogenic
12	32722870	T	TTAAA	C32722873A	DNM1L	NM_012062.5(DNM1L):c.1079+239_1079+240insAATA	noncoding	Benign
12	32731253	AAAAAGCATTTTTCATG	A	C32731259T	DNM1L	NM_012062.5(DNM1L):c.1201-97_1201-82del	noncoding	Benign
12	32731381	CTG	C	T32731382A	DNM1L	NM_012062.5(DNM1L):c.1227_1228del:p.Glu410fs	coding	Pathogenic
12	32731807	A	AAAAAAAC	C32731825A	DNM1L	NM_012062.5(DNM1L):c.1357-46AAAAAAC[3]	noncoding	Benign
12	32733884	TG	T	G32733886A	DNM1L	NM_012062.5(DNM1L):c.1539+79del	noncoding	Benign
12	32737163	T	TA	T32737171A	DNM1L	NM_012062.5(DNM1L):c.1596+9dup	noncoding	Benign/Likely_benign
12	32737850	A	AT	G32737857T	DNM1L	NM_012062.5(DNM1L):c.1597-9dup	noncoding	Benign
12	32740054	GT	G	T32740060C	DNM1L	NM_012062.5(DNM1L):c.1708-4del	noncoding	Benign/Likely_benign
12	32740429	A	ACTAT	G32740436A	DNM1L	NM_012062.5(DNM1L):c.1908_1911dup:p.Ala638fs	coding	Pathogenic
12	32743333	AT	A	T32743341C	DNM1L	NM_012062.5(DNM1L):c.2155-13del	noncoding	Benign
12	32792374	G	GT	G32792375T	PKP2	NM_001005242.3(PKP2):c.*49_*50insA	noncoding	Benign
12	32792375	G	GT	G32792377T	PKP2	NM_001005242.3(PKP2):c.*48dup	noncoding	Benign/Likely_benign
12	32792677	CCACA	C	C32792678G	PKP2	NM_001005242.3(PKP2):c.2408_2411del:p.Leu803fs	coding	Pathogenic
12	32796095	AC	A	C32796096T	PKP2	NM_001005242.3(PKP2):c.2357+13del	noncoding	Benign
12	32796096	C	CG	T32796097G	PKP2	NM_001005242.3(PKP2):c.2357+12_2357+13insC	noncoding	Benign/Likely_benign
12	32802180	A	AT	A32802191T	PKP2	NM_001005242.3(PKP2):c.2167+213dup	noncoding	Benign
12	32802180	A	ATT	A32802191T	PKP2	NM_001005242.3(PKP2):c.2167+213_2167+214dup	noncoding	Benign
12	32821375	AG	A	G32821377T	PKP2	NM_001005242.3(PKP2):c.1993del:p.Leu665fs	coding	Pathogenic
12	32821464	AT	A	T32821465G	PKP2	NM_001005242.3(PKP2):c.1904del:p.His635fs	coding	Pathogenic
12	32821526	A	AT	G32821529T	PKP2	NM_001005242.3(PKP2):c.1842dup:p.Tyr615fs	coding	Pathogenic
12	32822476	TTTCCTGCTTCGACTGCCAAAACA	T	T32822478C	PKP2	NM_001005242.3(PKP2):c.1807_1829del:p.Cys603fs	coding	Pathogenic/Likely_pathogenic
12	32822516	TTG	T	G32822518C	PKP2	NM_001005242.3(PKP2):c.1788_1789del:p.Asp596fs	coding	Pathogenic
12	32822550	TA	T	A32822551T	PKP2	NM_001005242.3(PKP2):c.1755del:p.Asn585fs	coding	Pathogenic
12	32824091	AC	A	C32824093A	PKP2	NM_001005242.3(PKP2):c.1627del:p.Val543fs	coding	Pathogenic/Likely_pathogenic
12	32824095	G	GTGAGTCAA	C32824110A	PKP2	NM_001005242.3(PKP2):c.1616_1623dup:p.Val543fs	coding	Pathogenic
12	32841026	ACCTTAGGCATCCAGTGACGTTGTAGAATATGTCAAAATCGAGCAAACCATTTGCTTTTGGGTAGTCTCCTTCAGGCCACCCAGAAAAGGGGATGATGATATTCTCCGTCAGCGTAAGCAATGCTTCTGTTATCATGAGATTCTTGAGTTTGTCATTAGATGACAAATTCCACAGCAAACC	A	C32841027T	PKP2	NM_001005242.3(PKP2):c.1379-1_1556+1del	noncoding	Pathogenic
12	32841034	CATCCAGTG	C	T32841036C	PKP2	NM_001005242.3(PKP2):c.1542_1549del:p.Thr515fs	coding	Pathogenic/Likely_pathogenic
12	32841326	T	TG	C32841333G	PKP2	NM_001005242.3(PKP2):c.1379-127dup	noncoding	Benign
12	32841995	AAAGACCATATAGGCCAATCCAGAAGAAACTGAGATAATAGCATGTTGTACTTTATAAGGTATATACTGTGACATACAGACTGAGGCTGAGTACTGAGAGAAAATAGAAAGTGGCATATACGTTTAGGATTTTTTTTGTTTTTGAAATTTGGAGCTCGAATCCTTCTGATTCAGTGGAAGGAAGACTGTACACTGATTGCTTGCTATTCCAGGGACTCCCAGCAGGTGTAAAGTTGCCTCGTCATCTTTCTTTCTTTTTTTTTGAGACTGCGTCTCACTCTATTGCCCATGCTGGAGTGCAGTGGTGGCTTGATCTCGGTTCATTGCAATCTCCACCTCCCAGGTTCAAGCAATGCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCCCGCCACCATGCCTGACTAATTTTTGTATTTTCGGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAATGATCTGCTGCCTCGATCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGCCTGGCCCGCCTCATTATCTTTCATACCGTAATGGGTTACACTAACTCACTAATGCCCAGGAAAAGGAGAAGAGGGGCAGAAAGAGAAGGGATGACTCTTCCCTTTCTACCCTATCCTTCTCACTGCCCAGGCAACAATTCCTACTTCTTTTTTCTCCCCCGAGATGGAGTACTGCTTTGTTGCCAAGGCTGAAGTGCGGTGGCGCAATCTCGGCTACCTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACACACCACCATGCCTGGCTAATTTTTGTATTCTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACCCTTGACCTGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGTGCCTGGCCCAGCAATTCCTACTTTTTTTTTTTTGAGACAGAGTCTCACTCGGTAACCTAGGCTGGAGTGTAGTGGCACAATCTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCAGACCACGACACCCGGCTAATTTTTTTGTATTTTGAGTAGAGACAGGGGTCTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCCATTCCTACTTCTTAAATTGACTGTATGGTCTGTACAAAGGAAAGAGGAAGCATAGGTACTCAGGGCAGGCTCCTTTATGAACACAGCAAATGTGGCAGACTTGGCTGAACTATGTGGCAAACATCACCTCCCCTGAAATAAGAGCCTGTATAGTTAAAGCTTGGTAATTACTCAGCATACTTATATTTGGTCCAACCAATTAGAACACATTAGGCTTCATGCAGTCTTTTGGGCTTAAACAGTTTGCTTCTGCTGTGCACAGGTAGCTACTTTTTGAAACTGTAACCAGATTTCCACTGGAGCCTACACAGAGCTTCCATTAGATACAGTGACACTGTGTCTGGTGTCTTGTGAGGACTAGATTTCTGGCTTATGAGGAGGTATTTTCCTGATCAAACTAGCATTTGGGGTTAAGGAGCAGTGTCCCTCAGCCACAGGTTTTGCAATACAATGACTTCATTCCTCCTGCTTCTCCTTAAGAGGCCCTGGAAGAGGGACAGATAAAACTCAGAAGGTGGTTGAAAACAATTTAAAGACAAGTCTGAGGCTGAGTTTTGGTTACTAAGCTACAAAAGCAAGTTAGAAAGAAGAGAGAAATGAAGAAAAAAAACAAAAGCTTCTTTAGTCCTAAATAAGCAAACAAATTAATAGTCTCTGCCTGCCAGAAGCTTAAGAATGTGAAGCATAATGACATTTCCTCCTTTTAAAAAGGACCACACAGGACACTCAAAGAAAAAGTACACCTTACAATAAAAACCAGAGAGGATTAATTGGAACAAAGGGAGTGGAATTTTCCTTCAACAGTCAATATCCTTTAGAGCTTGCCATGCTCCATTATTTCTACAAAAGTATATGATTTTGGAAGTTTCAGCATAATTTTAGAATTTCTAATATAGGATTTTGCATAGAAATGTCATGCCTGTCAAATTTCTGGGTGGCATGAAAGCTGTGAAAGAACTAAGATGTTCAATAGAGATTCAGAATTACATATGCTCATACACACATACCCTCACACAAAATCAGTGAGTAACCAACTACAAACTGGGAAAATATGTACAATATGAGATAAAAGTTTAATACTCTTAATATATAGAATTTTTATAAATCACTAAAAAGCGAAACACCAGTAGAAAAATTGGGAAGGTACATAACACAAAACCAACTGATATTAGGAGCTAATGTACACAGGAATCCATGTTCTCTAGTAACTAAAGAAATACAAATTTAAACAACTAGATATCATTTTCCATGACTAGAGGAGGCAAAACCAGAACCGATGAGTGGAAATTCTAAAGAAGGAGATTTTGGCTCACTGAAAGTATAAACTTCTAAGAGAGCTTTGAAGAAAACAGAAAGAACTACTTGTAAGACCCAGCTCTATCACTAGAGGGAATAAAAATTAGCTTATCTCTTATCAGAAAGTAGATGAGGGCTTTTACCCTGAAATTAAAGTGTTAGACTAGATGAGCAGTTTCCAAATGAGCCCAGTGACAAAACAGACTCACAGTCTTGGGCCATGCCCCAAATTTGCTGAGCCAGAGTCTCAGGATGGAGTTCAGGAACTTATATTTTAAAAAAAGATTCCAGTTTGGGCATGAGGAAACCAATAGACTAGATGATTCTGAATAGATGTCCCTTCAATGATCAGATTCTGGATTACCTAATATAATATTTACGGTTTGGGTTTTCATGTGTCTCATCCTTAACTTCTGATCAATTTTTTCATAGTGTCTTAATGTCTACTAGTATAGCTCTTTGTTGCAGATGGTCTGTCTGCCTGTAATTTTCTACCATGAGGCTCTCATTCTAGCCAAAAAGAAAGGGATCTGGACTCTGTTAAGGGATATAATTAGAATAATTACCAATTATAAGAGACAATAACTCCATTAGCCAGAAATTTACTGCCAACCGTGATGTTTGTAAAAAATAGCTAACCAGTAAAGGGAGCTTAGATATTACAACTCATGTTAAATAATAATGACCTCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGGGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTAAAACTCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTCGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAAAATAATAATAAAAAAATTAATGACCTCTAGGACAGAAAATATAGTAATTTAACAAATCTGCCTTAACACATAGGCAGCAAAACTTACAAGTTTTATGATTAAATAAATCCCTATCTTCAGTGAAAAAGAATGAGGAGGCAGAGATGAGGACAATGACCGCTCGGACAAGGACAAGAAAGAAAACTGGTTCTTTTTAACCGTGTTTTTCAAAGTGGTCAAAGAGTGGGAGGAATTTTTTTTTATTTATTTACAATTTCCCTTGCATAGATATACCCCTCCTTTCACCTAAATTTTGCAAATCTTAACTGGAATATCAGATTATTGAAACGGCCACGTATTCCAAGTTATATATAAACCCAGGGTACCTTGTTACACATTACGAATGCGGAATAAAATAATATACAATTACTTAAAGAAAGTGCATAATAAATATTTTATAGCAAAACATTCTGAGTATTTTATTAAATACAGCAATCCAATTAAGTACTTCTATAAAATATGCAGGGATTAATATGCAGTTTTAACACATTTCACTGACAATTACCCTGACTCTTTCATATGTAATGAAAGAGGGATAAGAACCCCTGCTGCACTCTTATCATGACTTGTCCGTTTTAATCCAAGGCATATCCCTGCTCACTCCAGCCAATGCTCACTACTCAGTGACCTTGAAGATGAACTTCTGAGACTAAGATGTGCCGTTCTCATTTCAATTACGGGAACACTACCACGCTCACTTAGTAAGGGAGAAAGAACAATCTCACCGGGGTGGGGGGAGTGGGGGTGTCTTTGATCCTGAAGTTCTTTCATTAGAAGAGAAGATCCTAGGCTACTACTGCAGAAGTAGAGCGAGAGATGAAGACAGCTTGAACCAAGGCAGAGACAAGAAGACAGAGGGGCCAGCACAGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCTCCATCTCTACTAAAAATACAAAATTAGCCAGGCATAGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGCGCCATTGCACTCCAGCCTGGGTAACAAGAATGAAACTTCTTCTCAAAAAAAAAAAAAAAAAAGAAGAGAGAGGAAGGGTGTCAGAGGAGTGAGGAAGAGCTCTCTGATCAGAGGAGTCTCAAAGACAAGCCCCTTCTCAAAGACTATACAAATGAGTCATCACGTGCCTCAAAAGTAGGTGGGGTGACAGCAAAACACTCAGATACAACTAGGTTCAAACCTGGGCTTTGTTCTTTACCATTTAGGCAACCTTGGGCAATTTACTTAACCCCTCTGAGTCTCACACTGATCATATGTAAGTCACCAATTATGCTTTCACCTCTTACGGAGTTGTCAGGAGAAATAGGGATAAAAAAACAGAAAGCCTTAGCTTAGTGACCAACACATAATAGGGGTTCAGAAAAAAAAAAGGTCAAAGAAATAGACCAGTAAGATTCACATATATACTTACTTTCTTTGTGTTTCTAAACAAAGATATAAACATGTCTATATTAGGTTAACAATTTATTTCTGAGGCCCAGAAAGCCCTTATTTAGCTCTTCTATTAGTAGAGCCAAAGGGAGTAATTTAGAAGGATTTGTATCAGATGTTCAAATGTCTGTTTGGTTCAATTAGCATGTAATGAACACCCTCCAGTAGGGATGTTTGGCTTATACTAGAAATCCTGGGTGCTGCACAATCAACTTCCATTTATCAACTCTATAGATGATCTAATGATGCCTGAATGGTTTCACATGGCATCAACATCACAGAATGTTCTCTGACGTTAGTCTCCTATTGCCTATGCAGGAGAAGAGGAAGCGTGATTCAATGGCTTGTTCCCTTGACACACACACACACACGCACGCAAGCACACACACACTTCCCAAGCTTTCTAACTACCAGGCACCCTAACTCCAAATCACGCTATTTTCCATGTCTCCTCTAAATGACCGGCAGCTAGTTTCTTTCTGCCTCTTTGCCTTGCTAGTGATGCTCACTTTGCCAGGAATAACTTTCATCCTCTTTCAAAACACCAATCCAAAGCCTATTCCTTTTTTAAGGTCCACAATGAAACATAACCCCTTCAGGAAGTATTTCCTGACTATAAAACTAGTAGATGGAGAAACAAAATCCAACGCGGGTGCAGTGGCATGTCCCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCAGGAGGATCTCATGAGCCCAGAAGAACAGCCCAGGCAGCACAGCGAGATCCCCATCCTTTAAAAAAAACAAAAACAAAAAAACCCCAAATCCACACCGTCCCTAGGCTGTGATTCTCAGTACCTGACCCCTGAAAGCTGCTCTGTAAATGTTGGTTAAATGAATGGAATCACTTTTAATTTCTACAGGCATTTGAATACAAATCATGGATATGAAAAGAAATCCCTCATGGGACCTGACAGAATGCTGGCAAGAGCGTAGCATGGTACTGGTAGGGCGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGAGACGCGGAGGCAGGCGGATCGCCTGAGGTCAGGAGCTCAAGACCAGCCTGATCAACGTGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGGAGAATTGCTTGAACCCTGGAACCAGACGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAGAAAAAGAGAATAGAGAGAGTAGCATGGTACCTCACATAGTTTTATAACATTAAAATATATCAGAATTTAAAATGTGATATTTAGCAACATGTATACAGCTGGAGGTCATTATCCTAAGCAAATTAATGCAAAAACAAAAAATCAAATACCACATATTCTCACTTACAAATGGGAGCTAAACATTGGGTATACATGGACTTAAAGATGAATAAAAGAGGGAGGAAAGGACGGGGGCAAGGGTTGAAAAACTATCTGTTGGGTACTATGCTGAGTACCTGGGTGACAGGACCATTCGTATCCCAAACCTCAGCATCACACAATATATCCATGTGACACACTTGAACACGTAACCCCAAATCTAAAATGAATGTTGAATTTTTTAAAATGTGATATTTTAAGACATAAAGCGAGTAGAGATAACATAATGACAAAATCTTTATAGAAAAATTAAACCTATTATATAACTAAATGAAGCAGGTAGAAGAGCAAAATATATTCAATTTACTTTAAAACAATATTTGTGGAGTATTTCCGTTAAAAGTATTTACCAGAACACTGTCAACTATTACACAGTTAAAAAAAAAAAAAAAAAAACCTCTTCTATGATGTATATTCTTTGAGCATTGGTTTCCTCATCTGTAAAATTGAGATATAGCACCTGATAATACCTAGAAACCCAAGGTTTCTGTGATAATTAAATTAGAAAATGTACGTATATCGCTGAGACATTGAAGATATTTAACAAAAATTTACTGATGATTGCACTCAGTTATGCCTCCTGCAATCTTTGTTAATTTTTTTGAGATAAGGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCACCAGCCTCAGCCTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAATAGCTGAGACTACAGGCACACACCACTAACACACCTGGCTAATTCTTTATTTTTCATAGAGACAGGGTCCCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCACCCAGCCCCTCCTGTACTCTTTGTACTGTGTGCAGGGAACACAAGCGGAGAGCTGATGGTGATGGCAGGGAGAGTGCTTATTCTGGAACATCAACAAATCATCTTCTCTTTTATCATACGACTGTTCATTTAAATGAAAGTAGCCCCTTCTCTTCATGCTTAGAGGACATATTACTAACACTGCTGTTTTAATTCTATCTGATTAGTCCATCTCTCCAATTCATTGCATAAAAAGGAGACATTTGCTCCAATCAGTATTTGAACAAAAATGTGAAGTAGAGAATTAAAAAAACAAACATATCCAGTTACTCTTTTCTTCTTTAAGGTTTCAGTGAGCTAAGGAGGTGGTACTGAGAGGAGTCCAGATAATGGAAAGATTGGAAAAAACAGTTTCTAATATTTGATTACATTGATCCTCCACACTGGAAAACTATGTGACACTCCATTTCATTTTCTATAGATCCAGCAAGCTGGTTGTTGAGTAAATAATACAAACAACTGGGTGTGGTTCTTGTCAGTTTTCTTTAGAAAGAAAGAAACCAAAATTTAGTTTGGGACACCTAGGATAACAGTGAAATCCTACACGTTCTTAAACTACAAAGTGGGCTGTTAGTGAATTTAAGCAGAATTTTCATTGCAGTGAGTCTTGTCAAATTGTTTTAAAGACATTTAGTCAAAGGTGCATAGAGTTTCTAATTAAGAATATTAAGCAAAAGCCGCAGAACATTTTCCCCTTTAGAAAAAAGGAATTCAGGCTGGGCGCAGTGGCTCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTAAACTTTAGTAGAAACATCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTAGGGAAGCTGAGGCAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATTGAGTCACTGCACCTCAGCCTGGGTGATAGAGCAAGATTCTGTCTCAAAAAAAAAAAAAAGGAATTCGAATGTGGCTCAAATCTGGAGTCTAAGCCAGCAGGTAACAATGTTCCTTTAAAGCCTTCTCTAGCATAACAATGAGCCCATCAATCATTTGCTCCAGGAAACTTAAGAAAAAGAGATGATGTAAGGCATCTGGCTGGGGTGCAAATGTGTTAGGTTCTTCAATGTTCAGTAAGCACTACCTGTTATTTGTTTTTTAGTCTCCAAGTCTCTGGTTTGCTTCAGCACCTGGAGCAGCCGAGGTACCCCATTTAGTTCAGCCACCTCCAATTTGTTGTCATTGTCTTCAAATACTAAGTTTCTCAAGGCCCCACACACAGCTCGCTGAACGTCTTCATTCTGAA	TTCAGAATGAAGACGTTCAGCGAGCTGTGTGTGGGGCCTTGAGAAACTTAGTATTTGAAGACAATGACAACAAATTGGAGGTGGCTGAACTAAATGGGGTACCTCGGCTGCTCCAGGTGCTGAAGCAAACCAGAGACTTGGAGACTAAAAAACAAATAACAGGTAGTGCTTACTGAACATTGAAGAACCTAACACATTTGCACCCCAGCCAGATGCCTTACATCATCTCTTTTTCTTAAGTTTCCTGGAGCAAATGATTGATGGGCTCATTGTTATGCTAGAGAAGGCTTTAAAGGAACATTGTTACCTGCTGGCTTAGACTCCAGATTTGAGCCACATTCGAATTCCTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTATCACCCAGGCTGAGGTGCAGTGACTCAATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCAATTCTGCCTCAGCTTCCCTAGTAGCTGGGATTACAGGCATGTGCTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGATGTTTCTACTAAAGTTTAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATGAGCCACTGCGCCCAGCCTGAATTCCTTTTTTCTAAAGGGGAAAATGTTCTGCGGCTTTTGCTTAATATTCTTAATTAGAAACTCTATGCACCTTTGACTAAATGTCTTTAAAACAATTTGACAAGACTCACTGCAATGAAAATTCTGCTTAAATTCACTAACAGCCCACTTTGTAGTTTAAGAACGTGTAGGATTTCACTGTTATCCTAGGTGTCCCAAACTAAATTTTGGTTTCTTTCTTTCTAAAGAAAACTGACAAGAACCACACCCAGTTGTTTGTATTATTTACTCAACAACCAGCTTGCTGGATCTATAGAAAATGAAATGGAGTGTCACATAGTTTTCCAGTGTGGAGGATCAATGTAATCAAATATTAGAAACTGTTTTTTCCAATCTTTCCATTATCTGGACTCCTCTCAGTACCACCTCCTTAGCTCACTGAAACCTTAAAGAAGAAAAGAGTAACTGGATATGTTTGTTTTTTTAATTCTCTACTTCACATTTTTGTTCAAATACTGATTGGAGCAAATGTCTCCTTTTTATGCAATGAATTGGAGAGATGGACTAATCAGATAGAATTAAAACAGCAGTGTTAGTAATATGTCCTCTAAGCATGAAGAGAAGGGGCTACTTTCATTTAAATGAACAGTCGTATGATAAAAGAGAAGATGATTTGTTGATGTTCCAGAATAAGCACTCTCCCTGCCATCACCATCAGCTCTCCGCTTGTGTTCCCTGCACACAGTACAAAGAGTACAGGAGGGGCTGGGTGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGGGACCCTGTCTCTATGAAAAATAAAGAATTAGCCAGGTGTGTTAGTGGTGTGTGCCTGTAGTCTCAGCTATTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTAGGAGGCTGAGGCTGGTGCAGTGAGCCATGATTGCACCACTGTACTCCAGCCTGGGCAACAGAGTGAGACCTTATCTCAAAAAAATTAACAAAGATTGCAGGAGGCATAACTGAGTGCAATCATCAGTAAATTTTTGTTAAATATCTTCAATGTCTCAGCGATATACGTACATTTTCTAATTTAATTATCACAGAAACCTTGGGTTTCTAGGTATTATCAGGTGCTATATCTCAATTTTACAGATGAGGAAACCAATGCTCAAAGAATATACATCATAGAAGAGGTTTTTTTTTTTTTTTTTTTAACTGTGTAATAGTTGACAGTGTTCTGGTAAATACTTTTAACGGAAATACTCCACAAATATTGTTTTAAAGTAAATTGAATATATTTTGCTCTTCTACCTGCTTCATTTAGTTATATAATAGGTTTAATTTTTCTATAAAGATTTTGTCATTATGTTATCTCTACTCGCTTTATGTCTTAAAATATCACATTTTAAAAAATTCAACATTCATTTTAGATTTGGGGTTACGTGTTCAAGTGTGTCACATGGATATATTGTGTGATGCTGAGGTTTGGGATACGAATGGTCCTGTCACCCAGGTACTCAGCATAGTACCCAACAGATAGTTTTTCAACCCTTGCCCCCGTCCTTTCCTCCCTCTTTTATTCATCTTTAAGTCCATGTATACCCAATGTTTAGCTCCCATTTGTAAGTGAGAATATGTGGTATTTGATTTTTTGTTTTTGCATTAATTTGCTTAGGATAATGACCTCCAGCTGTATACATGTTGCTAAATATCACATTTTAAATTCTGATATATTTTAATGTTATAAAACTATGTGAGGTACCATGCTACTCTCTCTATTCTCTTTTTCTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACGTCTGGTTCCAGGGTTCAAGCAATTCTCCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCACGTTGATCAGGCTGGTCTTGAGCTCCTGACCTCAGGCGATCCGCCTGCCTCCGCGTCTCAAAGTGCTAGGATTACAAGCGTGAGCCACCGCGCCCTACCAGTACCATGCTACGCTCTTGCCAGCATTCTGTCAGGTCCCATGAGGGATTTCTTTTCATATCCATGATTTGTATTCAAATGCCTGTAGAAATTAAAAGTGATTCCATTCATTTAACCAACATTTACAGAGCAGCTTTCAGGGGTCAGGTACTGAGAATCACAGCCTAGGGACGGTGTGGATTTGGGGTTTTTTTGTTTTTGTTTTTTTTAAAGGATGGGGATCTCGCTGTGCTGCCTGGGCTGTTCTTCTGGGCTCATGAGATCCTCCTGCCTCAGCCTCCTCAGTAGCTGGGACTACAGGGACATGCCACTGCACCCGCGTTGGATTTTGTTTCTCCATCTACTAGTTTTATAGTCAGGAAATACTTCCTGAAGGGGTTATGTTTCATTGTGGACCTTAAAAAAGGAATAGGCTTTGGATTGGTGTTTTGAAAGAGGATGAAAGTTATTCCTGGCAAAGTGAGCATCACTAGCAAGGCAAAGAGGCAGAAAGAAACTAGCTGCCGGTCATTTAGAGGAGACATGGAAAATAGCGTGATTTGGAGTTAGGGTGCCTGGTAGTTAGAAAGCTTGGGAAGTGTGTGTGTGCTTGCGTGCGTGTGTGTGTGTGTGTCAAGGGAACAAGCCATTGAATCACGCTTCCTCTTCTCCTGCATAGGCAATAGGAGACTAACGTCAGAGAACATTCTGTGATGTTGATGCCATGTGAAACCATTCAGGCATCATTAGATCATCTATAGAGTTGATAAATGGAAGTTGATTGTGCAGCACCCAGGATTTCTAGTATAAGCCAAACATCCCTACTGGAGGGTGTTCATTACATGCTAATTGAACCAAACAGACATTTGAACATCTGATACAAATCCTTCTAAATTACTCCCTTTGGCTCTACTAATAGAAGAGCTAAATAAGGGCTTTCTGGGCCTCAGAAATAAATTGTTAACCTAATATAGACATGTTTATATCTTTGTTTAGAAACACAAAGAAAGTAAGTATATATGTGAATCTTACTGGTCTATTTCTTTGACCTTTTTTTTTTCTGAACCCCTATTATGTGTTGGTCACTAAGCTAAGGCTTTCTGTTTTTTTATCCCTATTTCTCCTGACAACTCCGTAAGAGGTGAAAGCATAATTGGTGACTTACATATGATCAGTGTGAGACTCAGAGGGGTTAAGTAAATTGCCCAAGGTTGCCTAAATGGTAAAGAACAAAGCCCAGGTTTGAACCTAGTTGTATCTGAGTGTTTTGCTGTCACCCCACCTACTTTTGAGGCACGTGATGACTCATTTGTATAGTCTTTGAGAAGGGGCTTGTCTTTGAGACTCCTCTGATCAGAGAGCTCTTCCTCACTCCTCTGACACCCTTCCTCTCTCTTCTTTTTTTTTTTTTTTTTTGAGAAGAAGTTTCATTCTTGTTACCCAGGCTGGAGTGCAATGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACTATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCGGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCGTGAGCCACTGTGCTGGCCCCTCTGTCTTCTTGTCTCTGCCTTGGTTCAAGCTGTCTTCATCTCTCGCTCTACTTCTGCAGTAGTAGCCTAGGATCTTCTCTTCTAATGAAAGAACTTCAGGATCAAAGACACCCCCACTCCCCCCACCCCGGTGAGATTGTTCTTTCTCCCTTACTAAGTGAGCGTGGTAGTGTTCCCGTAATTGAAATGAGAACGGCACATCTTAGTCTCAGAAGTTCATCTTCAAGGTCACTGAGTAGTGAGCATTGGCTGGAGTGAGCAGGGATATGCCTTGGATTAAAACGGACAAGTCATGATAAGAGTGCAGCAGGGGTTCTTATCCCTCTTTCATTACATATGAAAGAGTCAGGGTAATTGTCAGTGAAATGTGTTAAAACTGCATATTAATCCCTGCATATTTTATAGAAGTACTTAATTGGATTGCTGTATTTAATAAAATACTCAGAATGTTTTGCTATAAAATATTTATTATGCACTTTCTTTAAGTAATTGTATATTATTTTATTCCGCATTCGTAATGTGTAACAAGGTACCCTGGGTTTATATATAACTTGGAATACGTGGCCGTTTCAATAATCTGATATTCCAGTTAAGATTTGCAAAATTTAGGTGAAAGGAGGGGTATATCTATGCAAGGGAAATTGTAAATAAATAAAAAAAAATTCCTCCCACTCTTTGACCACTTTGAAAAACACGGTTAAAAAGAACCAGTTTTCTTTCTTGTCCTTGTCCGAGCGGTCATTGTCCTCATCTCTGCCTCCTCATTCTTTTTCACTGAAGATAGGGATTTATTTAATCATAAAACTTGTAAGTTTTGCTGCCTATGTGTTAAGGCAGATTTGTTAAATTACTATATTTTCTGTCCTAGAGGTCATTAATTTTTTTATTATTATTTTTATTTATTTTTTTGAGACGGAGTCTCGCTCTGTTGCCGAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGATGGGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGAGTTTTACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCCCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAGGTCATTATTATTTAACATGAGTTGTAATATCTAAGCTCCCTTTACTGGTTAGCTATTTTTTACAAACATCACGGTTGGCAGTAAATTTCTGGCTAATGGAGTTATTGTCTCTTATAATTGGTAATTATTCTAATTATATCCCTTAACAGAGTCCAGATCCCTTTCTTTTTGGCTAGAATGAGAGCCTCATGGTAGAAAATTACAGGCAGACAGACCATCTGCAACAAAGAGCTATACTAGTAGACATTAAGACACTATGAAAAAATTGATCAGAAGTTAAGGATGAGACACATGAAAACCCAAACCGTAAATATTATATTAGGTAATCCAGAATCTGATCATTGAAGGGACATCTATTCAGAATCATCTAGTCTATTGGTTTCCTCATGCCCAAACTGGAATCTTTTTTTAAAATATAAGTTCCTGAACTCCATCCTGAGACTCTGGCTCAGCAAATTTGGGGCATGGCCCAAGACTGTGAGTCTGTTTTGTCACTGGGCTCATTTGGAAACTGCTCATCTAGTCTAACACTTTAATTTCAGGGTAAAAGCCCTCATCTACTTTCTGATAAGAGATAAGCTAATTTTTATTCCCTCTAGTGATAGAGCTGGGTCTTACAAGTAGTTCTTTCTGTTTTCTTCAAAGCTCTCTTAGAAGTTTATACTTTCAGTGAGCCAAAATCTCCTTCTTTAGAATTTCCACTCATCGGTTCTGGTTTTGCCTCCTCTAGTCATGGAAAATGATATCTAGTTGTTTAAATTTGTATTTCTTTAGTTACTAGAGAACATGGATTCCTGTGTACATTAGCTCCTAATATCAGTTGGTTTTGTGTTATGTACCTTCCCAATTTTTCTACTGGTGTTTCGCTTTTTAGTGATTTATAAAAATTCTATATATTAAGAGTATTAAACTTTTATCTCATATTGTACATATTTTCCCAGTTTGTAGTTGGTTACTCACTGATTTTGTGTGAGGGTATGTGTGTATGAGCATATGTAATTCTGAATCTCTATTGAACATCTTAGTTCTTTCACAGCTTTCATGCCACCCAGAAATTTGACAGGCATGACATTTCTATGCAAAATCCTATATTAGAAATTCTAAAATTATGCTGAAACTTCCAAAATCATATACTTTTGTAGAAATAATGGAGCATGGCAAGCTCTAAAGGATATTGACTGTTGAAGGAAAATTCCACTCCCTTTGTTCCAATTAATCCTCTCTGGTTTTTATTGTAAGGTGTACTTTTTCTTTGAGTGTCCTGTGTGGTCCTTTTTAAAAGGAGGAAATGTCATTATGCTTCACATTCTTAAGCTTCTGGCAGGCAGAGACTATTAATTTGTTTGCTTATTTAGGACTAAAGAAGCTTTTGTTTTTTTTCTTCATTTCTCTCTTCTTTCTAACTTGCTTTTGTAGCTTAGTAACCAAAACTCAGCCTCAGACTTGTCTTTAAATTGTTTTCAACCACCTTCTGAGTTTTATCTGTCCCTCTTCCAGGGCCTCTTAAGGAGAAGCAGGAGGAATGAAGTCATTGTATTGCAAAACCTGTGGCTGAGGGACACTGCTCCTTAACCCCAAATGCTAGTTTGATCAGGAAAATACCTCCTCATAAGCCAGAAATCTAGTCCTCACAAGACACCAGACACAGTGTCACTGTATCTAATGGAAGCTCTGTGTAGGCTCCAGTGGAAATCTGGTTACAGTTTCAAAAAGTAGCTACCTGTGCACAGCAGAAGCAAACTGTTTAAGCCCAAAAGACTGCATGAAGCCTAATGTGTTCTAATTGGTTGGACCAAATATAAGTATGCTGAGTAATTACCAAGCTTTAACTATACAGGCTCTTATTTCAGGGGAGGTGATGTTTGCCACATAGTTCAGCCAAGTCTGCCACATTTGCTGTGTTCATAAAGGAGCCTGCCCTGAGTACCTATGCTTCCTCTTTCCTTTGTACAGACCATACAGTCAATTTAAGAAGTAGGAATGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAGACCCCTGTCTCTACTCAAAATACAAAAAAATTAGCCGGGTGTCGTGGTCTGCGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAAGATTGTGCCACTACACTCCAGCCTAGGTTACCGAGTGAGACTCTGTCTCAAAAAAAAAAAAGTAGGAATTGCTGGGCCAGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCAGGTCAAGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAGAATACAAAAATTAGCCAGGCATGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGGTAGCCGAGATTGCGCCACCGCACTTCAGCCTTGGCAACAAAGCAGTACTCCATCTCGGGGGAGAAAAAAGAAGTAGGAATTGTTGCCTGGGCAGTGAGAAGGATAGGGTAGAAAGGGAAGAGTCATCCCTTCTCTTTCTGCCCCTCTTCTCCTTTTCCTGGGCATTAGTGAGTTAGTGTAACCCATTACGGTATGAAAGATAATGAGGCGGGCCAGGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGATCGAGGCAGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCGTCTCTACCGAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGCATTGCTTGAACCTGGGAGGTGGAGATTGCAATGAACCGAGATCAAGCCACCACTGCACTCCAGCATGGGCAATAGAGTGAGACGCAGTCTCAAAAAAAAAGAAAGAAAGATGACGAGGCAACTTTACACCTGCTGGGAGTCCCTGGAATAGCAAGCAATCAGTGTACAGTCTTCCTTCCACTGAATCAGAAGGATTCGAGCTCCAAATTTCAAAAACAAAAAAAATCCTAAACGTATATGCCACTTTCTATTTTCTCTCAGTACTCAGCCTCAGTCTGTATGTCACAGTATATACCTTATAAAGTACAACATGCTATTATCTCAGTTTCTTCTGGATTGGCCTATATGGTCTTT	A32841995T	PKP2	NM_001005242.3(PKP2):c.1217_1379-790inv	noncoding	Pathogenic
12	32850565	CA	C	A32850579G	PKP2	NM_001005242.3(PKP2):c.1378+200del	noncoding	Benign
12	32850775	G	GT	A32850782T	PKP2	NM_001005242.3(PKP2):c.1368dup:p.Gln457fs	coding	Pathogenic
12	32850775	GT	G	T32850781A	PKP2	NM_001005242.3(PKP2):c.1368del:p.Lys456fs	coding	Pathogenic/Likely_pathogenic
12	32850836	TA	T	A32850837G	PKP2	NM_001005242.3(PKP2):c.1307del:p.Leu436fs	coding	Pathogenic
12	32850878	TAA	T	A32850879G	PKP2	NM_001005242.3(PKP2):c.1264_1265del:p.Leu422fs	coding	Pathogenic
12	32868969	GA	G	A32868972G	PKP2	NM_001005242.3(PKP2):c.1127del:p.Phe376fs	coding	Pathogenic
12	32877902	TGCGGCCGCCTGGCC	T	C32877904A	PKP2	NM_001005242.3(PKP2):c.964_977del:p.Gly322fs	coding	Pathogenic
12	32877904	CGGCCGCCT	C	C32877910A	PKP2	NM_001005242.3(PKP2):c.968_975del:p.Gln323fs	coding	Pathogenic
12	32877908	C	CA	G32877909A	PKP2	NM_001005242.3(PKP2):c.971_972insT:p.Ala325fs	coding	Pathogenic
12	32877912	TGG	T	G32877913C	PKP2	NM_001005242.3(PKP2):c.966_967del:p.Gln323fs	coding	Pathogenic
12	32877916	CG	C	G32877917A	PKP2	NM_001005242.3(PKP2):c.963del:p.Gly322fs	coding	Pathogenic
12	32877941	GC	G	C32877942T	PKP2	NM_001005242.3(PKP2):c.938del:p.Ser313fs	coding	Pathogenic
12	32878018	AC	A	C32878020T	PKP2	NM_001005242.3(PKP2):c.861del:p.Arg287fs	coding	Pathogenic
12	32878110	TCCAAGAGGTTG	T	A32878113C	PKP2	NM_001005242.3(PKP2):c.759_769del:p.Asn254fs	coding	Pathogenic
12	32878406	CCT	C	T32878410C	PKP2	NM_001005242.3(PKP2):c.472_473del:p.Arg158fs	coding	Pathogenic
12	32878415	G	GC	T32878417C	PKP2	NM_001005242.3(PKP2):c.464dup:p.Ser155fs	coding	Pathogenic
12	32878428	GA	G	A32878431T	PKP2	NM_001005242.3(PKP2):c.451del:p.Ser151fs	coding	Pathogenic
12	32878500	G	GT	C32878503T	PKP2	NM_001005242.3(PKP2):c.379dup:p.Thr127fs	coding	Pathogenic
12	32878926	C	CA	T32878928A	PKP2	NM_001005242.3(PKP2):c.329dup:p.Met110fs	coding	Pathogenic
12	32878955	G	GGCCTC	C32878961G	PKP2	NM_001005242.3(PKP2):c.296_300dup:p.Arg101fs	coding	Pathogenic
12	32878983	GTGT	AATCATCTACAACCA	G32878983A	PKP2	NM_001005242.3(PKP2):c.270_273delinsTGGTTGTAGATGATT:p.His91delinsGlyCysArgTer	coding	Pathogenic
12	32896533	TC	T	C32896535G	PKP2	NM_001005242.3(PKP2):c.198del:p.Lys67fs	coding	Pathogenic/Likely_pathogenic
12	32896541	A	AG	T32896545G	PKP2	NM_001005242.3(PKP2):c.190dup:p.Leu64fs	coding	Pathogenic/Likely_pathogenic
12	32896836	GC	G	C32896840G	PKP2	Single_allele	noncoding	Benign
12	32896965	CCGGGGG	C	G32896982C	PKP2	Single_allele	noncoding	Benign
12	40237823	CAACA	C	A40237845G	LRRK2	NM_198578.4(LRRK2):c.437-145AACA[5]	noncoding	Benign
12	40251002	G	GT	G40251017T	LRRK2	NM_198578.4(LRRK2):c.959-216dup	noncoding	Benign
12	40274834	C	CT	A40274844T	LRRK2	NM_198578.4(LRRK2):c.1802-11dup	noncoding	Benign
12	40274834	CT	C	T40274843A	LRRK2	NM_198578.4(LRRK2):c.1802-11del	noncoding	Benign
12	40284261	AT	A	T40284275G	LRRK2	NM_198578.4(LRRK2):c.2500+142del	noncoding	Benign
12	40287550	T	TAA	C40287560A	LRRK2	NM_198578.4(LRRK2):c.2689+19_2689+20dup	noncoding	Benign
12	40287550	T	TA	C40287560A	LRRK2	NM_198578.4(LRRK2):c.2689+20dup	noncoding	Benign/Likely_benign
12	40293893	GCA	G	C40293896T	LRRK2	NM_198578.4(LRRK2):c.2808+233_2808+234del	noncoding	Benign
12	40293894	C	CAT	C40293896T	LRRK2	NM_198578.4(LRRK2):c.2808+232_2808+233insTA	noncoding	Benign
12	40293896	C	CAT	C40293916T	LRRK2	NM_198578.4(LRRK2):c.2808+234AT[10]	noncoding	Benign
12	40295402	ATTGT	A	G40295413T	LRRK2	NM_198578.4(LRRK2):c.2879-24TTGT[2]	noncoding	Benign
12	40295413	GT	G	T40295418G	LRRK2	NM_198578.4(LRRK2):c.2879-9del	noncoding	Benign
12	40298778	A	AATATATATAT	A40298800T	LRRK2	NM_198578.4(LRRK2):c.3347+286AT[15]	noncoding	Benign
12	40298778	AAT	A	T40298798A	LRRK2	NM_198578.4(LRRK2):c.3347+286AT[9]	noncoding	Benign
12	40298796	T	TATATATATAA	A40298800T	LRRK2	NM_198578.4(LRRK2):c.3347+306_3347+307insTATATAAATA	noncoding	Benign
12	40298798	T	TATAA	A40298800T	LRRK2	NM_198578.4(LRRK2):c.3347+306_3347+307insTAAA	noncoding	Benign
12	40298860	ATATTATATATATACTATATATAATACT	A	C40298901A	LRRK2	NM_198578.4(LRRK2):c.3348-208_3348-182del	noncoding	Benign
12	40302773	A	AT	C40302782T	LRRK2	NM_198578.4(LRRK2):c.3497-8dup	noncoding	Benign
12	40309244	CT	C	T40309245G	LRRK2	NM_198578.4(LRRK2):c.4317+12del	noncoding	Benign/Likely_benign
12	40309285	C	CGT	A40309304G	LRRK2	NM_198578.4(LRRK2):c.4317+53GT[10]	noncoding	Benign
12	40313687	G	GT	C40313697T	LRRK2	NM_198578.4(LRRK2):c.4537-276dup	noncoding	Benign
12	40319784	CA	C	A40319786T	LRRK2	NM_198578.4(LRRK2):c.4828-202del	noncoding	Benign
12	40322834	CAT	C	A40322835G	LRRK2	NM_198578.4(LRRK2):c.5509+325_5510-324del	noncoding	Benign
12	40347026	AT	A	T40347034G	LRRK2	NM_198578.4(LRRK2):c.6280+111del	noncoding	Benign
12	40348202	AT	A	T40348203A	LRRK2	NM_198578.4(LRRK2):c.6281-206del	noncoding	Benign
12	40359242	C	CT	G40359253T	LRRK2	NM_198578.4(LRRK2):c.6844-8dup	noncoding	Benign
12	40359242	C	CTT	G40359253T	LRRK2	NM_198578.4(LRRK2):c.6844-9_6844-8dup	noncoding	Benign/Likely_benign
12	40359246	T	TA	T40359247A	LRRK2	NM_198578.4(LRRK2):c.6844-14_6844-13insA	noncoding	Benign/Likely_benign
12	40363312	A	ACATG	T40363316G	LRRK2	NM_198578.4(LRRK2):c.7029-87_7029-86insGCAT	noncoding	Benign
12	40363384	AT	A	T40363393C	LRRK2	NM_198578.4(LRRK2):c.7029-9del	noncoding	Benign
12	40910072	GA	G	A40910073G	CNTN1	NM_001843.4(CNTN1):c.62del:p.Glu21fs	noncoding	Pathogenic
12	40918790	C	CT	C40918795T	CNTN1	NM_001843.4(CNTN1):c.227+23dup	noncoding	Benign
12	40924536	CT	C	T40924543C	CNTN1	NM_001843.4(CNTN1):c.401-14del	noncoding	Benign/Likely_benign
12	40924881	C	CATATATATATATATATATATAT	G40924899T	CNTN1	NM_001843.4(CNTN1):c.496+230AT[19]	noncoding	Benign
12	40924881	C	CATATATATATATATATATAT	G40924899T	CNTN1	NM_001843.4(CNTN1):c.496+230AT[18]	noncoding	Benign
12	40924881	C	CATATATATATATAT	G40924899T	CNTN1	NM_001843.4(CNTN1):c.496+230AT[15]	noncoding	Benign
12	40924881	C	CATATATATATAT	G40924899T	CNTN1	NM_001843.4(CNTN1):c.496+230AT[14]	noncoding	Benign
12	40939589	AT	A	T40939599C	CNTN1	NM_001843.4(CNTN1):c.1379+114del	noncoding	Benign
12	40944101	TG	T	G40944102T	CNTN1	NM_001843.4(CNTN1):c.1615del:p.Val539fs	coding	Pathogenic
12	40981151	A	AT	G40981153T	CNTN1	NM_001843.4(CNTN1):c.1963+85dup	noncoding	Benign
12	40993546	G	GA	T40993550A	CNTN1	NM_001843.4(CNTN1):c.2113+280dup	noncoding	Benign
12	41017216	ACT	A	T41017220C	CNTN1	NM_001843.4(CNTN1):c.2419+304_2419+305del	noncoding	Benign
12	41025254	GTATTT	G	T41025258A	CNTN1	NM_001843.4(CNTN1):c.2632_2636del:p.Phe878fs	coding	Pathogenic
12	42468615	C	CT	A42468624T	PRICKLE1	NM_153026.3(PRICKLE1):c.588+10dup	noncoding	Benign
12	42470647	TG	T	G42470648T	PRICKLE1	NM_153026.3(PRICKLE1):c.133-289del	noncoding	Benign
12	43771336	TTTTTGCTCCTGCGAGTC	T	T43771346C	IRAK4	NM_016123.4(IRAK4):c.288_304del:p.Ala97fs	coding	Pathogenic
12	43772958	CT	C	T43772961G	IRAK4	NM_016123.4(IRAK4):c.540del:p.Phe180fs	coding	Pathogenic
12	43782068	TAAAA	T	A43782072G	IRAK4	NM_016123.4(IRAK4):c.942-235_942-232del	noncoding	Benign
12	43783643	A	AT	G43783652T	IRAK4	NM_016123.4(IRAK4):c.1126-11dup	noncoding	Benign
12	45390738	G	GT	A45390741T	ANO6	NM_001025356.3(ANO6):c.1386+242dup	noncoding	Benign
12	45729665	G	GCGC	A45729703G	ARID2	Single_allele	noncoding	Benign
12	45730067	C	CG	T45730070G	ARID2	NM_152641.4(ARID2):c.118dup:p.Val40fs	coding	Pathogenic
12	45730106	CCA	C	C45730107G	ARID2	NM_152641.4(ARID2):c.156_157del:p.Arg53fs	coding	Pathogenic
12	45811432	AC	A	C45811433G	ARID2	NM_152641.4(ARID2):c.300del:p.Lys99_Tyr100insTer	coding	Pathogenic
12	45811531	A	AC	A45811534C	ARID2	NM_152641.4(ARID2):c.400dup:p.Gln134fs	coding	Pathogenic
12	45837638	G	GTGCT	A45837643T	ARID2	NM_152641.4(ARID2):c.1262_1265dup:p.Tyr423fs	coding	Pathogenic
12	45850521	CAT	C	A45850524G	ARID2	NM_152641.4(ARID2):c.2401_2402del:p.Met801fs	coding	Pathogenic
12	45851183	A	AC	A45851189C	ARID2	NM_152641.4(ARID2):c.3065dup:p.Pro1023fs	coding	Pathogenic
12	45851298	CTG	C	T45851299A	ARID2	NM_152641.4(ARID2):c.3176_3177del:p.Leu1059fs	coding	Pathogenic
12	45851424	G	GAGGT	T45851425A	ARID2	NM_152641.4(ARID2):c.3301_3302insAGGT:p.Val1101fs	coding	Pathogenic
12	45852332	G	GC	A45852334C	ARID2	NM_152641.4(ARID2):c.4210dup:p.Gln1404fs	coding	Pathogenic
12	45852377	ACC	A	C45852378T	ARID2	NM_152641.4(ARID2):c.4255_4256del:p.Pro1419fs	coding	Pathogenic
12	45852663	AC	GAA	A45852663G	ARID2	NM_152641.4(ARID2):c.4540_4541delinsGAA:p.Thr1514fs	coding	Pathogenic
12	45860716	CAT	C	T45860718A	ARID2	NM_152641.4(ARID2):c.4774-83_4774-82del	noncoding	Benign
12	45891795	CTCACAGGT	C	C45891797T	ARID2	NM_152641.4(ARID2):c.4940_4947del:p.Ser1647fs	coding	Pathogenic
12	45892080	C	CAGAA	G45892085A	ARID2	NM_152641.4(ARID2):c.5132_5135dup:p.Ser1713fs	coding	Pathogenic
12	47846582	G	GC	A47846585C	VDR	NM_000376.3(VDR):c.907+73dup	noncoding	Benign
12	47973546	GTA	G	A47973548G	COL2A1	NM_001844.5(COL2A1):c.4323_4324del:p.Thr1442fs	coding	Pathogenic
12	47974087	AC	A	C47974089G	COL2A1	NM_001844.5(COL2A1):c.4317+1del	noncoding	Pathogenic
12	47974092	G	GCAGC	T47974099G	COL2A1	NM_001844.5(COL2A1):c.4310_4313dup:p.Cys1438fs	coding	Pathogenic
12	47974114	T	TACGTG	A47974121C	COL2A1	NM_001844.5(COL2A1):c.4287_4291dup:p.Tyr1431fs	coding	Pathogenic
12	47974320	TC	T	C47974322A	COL2A1	NM_001844.5(COL2A1):c.4085del:p.Gly1362fs	coding	Pathogenic
12	47974623	AAG	A	A47974626T	COL2A1	NM_001844.5(COL2A1):c.4074+50_4074+51del	noncoding	Benign
12	47974680	A	AG	C47974682G	COL2A1	NM_001844.5(COL2A1):c.4068dup:p.Phe1357fs	coding	Pathogenic
12	47974723	CT	C	T47974725G	COL2A1	NM_001844.5(COL2A1):c.4025del:p.Lys1342fs	coding	Pathogenic
12	47974752	TG	T	G47974755A	COL2A1	NM_001844.5(COL2A1):c.3996del:p.Lys1333fs	coding	Pathogenic
12	47974770	TG	T	G47974774T	COL2A1	NM_001844.5(COL2A1):c.3978del:p.Asn1327fs	coding	Pathogenic
12	47974770	T	TC	G47974771C	COL2A1	NM_001844.5(COL2A1):c.3978_3979insG:p.Asn1327fs	coding	Pathogenic
12	47974781	CAA	C	A47974782G	COL2A1	NM_001844.5(COL2A1):c.3966_3967del:p.Cys1323fs	coding	Pathogenic
12	47974856	TA	T	A47974857G	COL2A1	NM_001844.5(COL2A1):c.3892del:p.Tyr1298fs	coding	Pathogenic
12	47975337	CAG	C	A47975340T	COL2A1	NM_001844.5(COL2A1):c.3864_3865del:p.Cys1289fs	coding	Pathogenic
12	47975371	TC	T	C47975372T	COL2A1	NM_001844.5(COL2A1):c.3831del:p.Asn1278fs	coding	Pathogenic
12	47975394	CG	C	G47975396A	COL2A1	NM_001844.5(COL2A1):c.3808del:p.Arg1270fs	coding	Pathogenic
12	47975558	GCCAGGGGGACCTGGAGGA	G	A47975567T	COL2A1	NM_001844.5(COL2A1):c.3627_3644del:p.1205PGP[2]	coding	Pathogenic
12	47975579	AG	A	G47975584T	COL2A1	NM_001844.5(COL2A1):c.3623del:p.Pro1208fs	coding	Pathogenic
12	47975594	TCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGG	T	G47975611A	COL2A1	NC_000012.11:g.48369378_48369842del	coding	Pathogenic
12	47976005	C	CCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGA	G47976053A	COL2A1	NM_001844.5(COL2A1):c.3510_3554dup:p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro	coding	Pathogenic
12	47976558	CAGA	C	A47976561G	COL2A1	NM_001844.5(COL2A1):c.3442_3444del:p.Ser1148del	coding	Pathogenic/Likely_pathogenic
12	47976565	AC	A	C47976568T	COL2A1	NC_000012.11:g.48370349del	coding	Pathogenic
12	47977320	AGCT	CTCTGTCTCCTTGTCTCCTTGCTG	A47977320C	COL2A1	NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG:p.Glu1090fs	coding	Pathogenic
12	47977358	C	CG	C47977363G	COL2A1	NM_001844.5(COL2A1):c.3234dup:p.Ala1079fs	coding	Pathogenic
12	47977358	C	CGGGGCCAGGGGAGCCAGGG	C47977380G	COL2A1	NM_001844.5(COL2A1):c.3216_3234dup:p.Ala1079fs	coding	Pathogenic
12	47977373	CA	C	A47977374G	COL2A1	NM_001844.5(COL2A1):c.3219del:p.Gly1074fs	coding	Pathogenic
12	47977639	A	AGCAC	C47977644G	COL2A1	NM_001844.5(COL2A1):c.3122_3125dup:p.Asp1043fs	coding	Pathogenic
12	47977642	AC	A	C47977644G	COL2A1	NM_001844.5(COL2A1):c.3122del:p.Gly1041fs	coding	Pathogenic
12	47978045	C	CA	G47978047A	COL2A1	NM_001844.5(COL2A1):c.3075dup:p.Gly1026fs	coding	Pathogenic
12	47978057	CG	C	G47978061C	COL2A1	NM_001844.5(COL2A1):c.3063del:p.Val1022fs	coding	Pathogenic
12	47978064	A	AGGAGGACCTC	T47978075G	COL2A1	NM_001844.5(COL2A1):c.3047_3056dup:p.Gly1020fs	coding	Pathogenic
12	47978292	GAC	G	A47978293G	COL2A1	NM_001844.5(COL2A1):c.3000_3001del:p.Ser1001fs	coding	Pathogenic
12	47978296	GGCCAGGCAA	G	C47978303G	COL2A1	NM_001844.5(COL2A1):c.2989_2997del:p.Leu997_Gly999del	coding	Pathogenic
12	47978351	G	GC	T47978354C	COL2A1	NM_001844.5(COL2A1):c.2942dup:p.Ile982fs	coding	Pathogenic
12	47978633	AG	A	G47978638T	COL2A1	NM_001844.5(COL2A1):c.2858del:p.Pro953fs	coding	Pathogenic
12	47978732	AG	A	G47978737A	COL2A1	NM_001844.5(COL2A1):c.2759del:p.Pro920fs	coding	Pathogenic
12	47978737	GA	G	A47978738C	COL2A1	NM_001844.5(COL2A1):c.2754del:p.Pro920fs	coding	Pathogenic
12	47978740	CA	C	A47978741G	COL2A1	NM_001844.5(COL2A1):c.2751del:p.Gly918fs	coding	Pathogenic
12	47978800	TTCC	T	C47978803A	COL2A1	NM_001844.5(COL2A1):c.2734-45_2734-43del	noncoding	Benign
12	47979544	TC	T	C47979546A	COL2A1	NM_001844.5(COL2A1):c.2699del:p.Gly900fs	coding	Pathogenic
12	47980009	CG	C	G47980015C	COL2A1	NM_001844.5(COL2A1):c.2678del:p.Pro893fs	coding	Pathogenic
12	47980574	AG	A	G47980578C	COL2A1	NM_001844.5(COL2A1):c.2604del:p.Ser869fs	coding	Pathogenic
12	47980601	C	CA	T47980603A	COL2A1	NM_001844.5(COL2A1):c.2577dup:p.Ala860fs	coding	Pathogenic
12	47980952	GTC	G	T47980957C	COL2A1	NM_001844.5(COL2A1):c.2478_2479del:p.Glu826fs	coding	Pathogenic
12	47981778	TCTCGCCATTAGCAC	T	T47981780A	COL2A1	NM_001844.5(COL2A1):c.2393_2406del:p.Gly798fs	coding	Pathogenic
12	47981803	A	AG	C47981810G	COL2A1	NM_001844.5(COL2A1):c.2381dup:p.Gly795fs	coding	Pathogenic
12	47982152	AACGTC	A	G47982155C	COL2A1	NM_001844.5(COL2A1):c.2305_2309del:p.Asp769fs	coding	Pathogenic
12	47982513	TGG	AGA	T47982513A	COL2A1	NM_001844.5(COL2A1):c.2288_2290delinsTCT:p.Pro763_Lys764delinsLeuTer	coding	Pathogenic
12	47982583	AG	A	G47982589C	COL2A1	NM_001844.5(COL2A1):c.2219del:p.Pro740fs	coding	Pathogenic
12	47982660	A	AC	A47982664C	COL2A1	NM_001844.5(COL2A1):c.2194-54dup	noncoding	Benign
12	47982890	AC	A	C47982893T	COL2A1	NM_001844.5(COL2A1):c.2150del:p.Gly717fs	coding	Pathogenic
12	47983091	A	ACC	T47983095C	COL2A1	NM_001844.5(COL2A1):c.2094_2094+1dup	noncoding	Pathogenic
12	47983436	TC	T	C47983439T	COL2A1	NC_000012.11:g.48377220del	coding	Pathogenic
12	47984153	GA	G	A47984158G	COL2A1	NM_001844.5(COL2A1):c.1888-14del	noncoding	Benign
12	47985067	AG	A	G47985069A	COL2A1	NM_001844.5(COL2A1):c.1760del:p.Pro587fs	coding	Pathogenic
12	47985085	AG	A	G47985089C	COL2A1	NM_001844.5(COL2A1):c.1742del:p.Pro581fs	coding	Pathogenic
12	47985564	AT	A	T47985565C	COL2A1	NM_001844.5(COL2A1):c.1703del:p.Asp568fs	coding	Pathogenic
12	47985725	T	TA	C47985727A	COL2A1	NM_001844.5(COL2A1):c.1680+2dup	noncoding	Pathogenic/Likely_pathogenic
12	47985918	ACCTGC	A	C47985920A	COL2A1	NM_001844.5(COL2A1):c.1570_1574del:p.Ala524fs	coding	Pathogenic
12	47986339	TTC	T	T47986342C	COL2A1	NM_001844.5(COL2A1):c.1522_1523del:p.Glu508fs	coding	Pathogenic
12	47986344	CA	C	A47986345G	COL2A1	NM_001844.5(COL2A1):c.1518del:p.Gly507fs	coding	Pathogenic
12	47986427	TG	T	G47986432C	COL2A1	NM_001844.5(COL2A1):c.1435del:p.Gln479fs	coding	Pathogenic
12	47986436	GCAGGGC	G	A47986438C	COL2A1	NM_001844.5(COL2A1):c.1421_1426del:p.Gly474_Pro475del	coding	Pathogenic
12	47986548	T	TG	C47986558G	COL2A1	NM_001844.5(COL2A1):c.1420-114dup	noncoding	Benign
12	47986834	C	CA	G47986836A	COL2A1	NM_001844.5(COL2A1):c.1419dup:p.Gly474fs	noncoding	Pathogenic
12	47986844	CT	C	T47986846G	COL2A1	NM_001844.5(COL2A1):c.1409del:p.Lys470fs	coding	Pathogenic
12	47986868	GC	G	C47986870A	COL2A1	NM_001844.5(COL2A1):c.1385del:p.Gly462fs	coding	Pathogenic
12	47986876	T	TA	C47986878A	COL2A1	NM_001844.5(COL2A1):c.1377dup:p.Ile460fs	coding	Pathogenic
12	47987102	ACCAGTTGCAC	A	C47987104T	COL2A1	NM_001844.5(COL2A1):c.1331_1340del:p.Gly444fs	coding	Pathogenic
12	47987173	CACCCT	C	A47987174G	COL2A1	NM_001844.5(COL2A1):c.1267-2_1269del	coding	Pathogenic
12	47989244	CCA	C	C47989245G	COL2A1	NM_001844.5(COL2A1):c.1104_1105del:p.Gly369fs	coding	Pathogenic
12	47989249	GA	G	A47989251G	COL2A1	NM_001844.5(COL2A1):c.1100del:p.Phe367fs	coding	Pathogenic
12	47989785	AC	A	C47989787A	COL2A1	NM_001844.5(COL2A1):c.1043del:p.Gly348fs	coding	Pathogenic
12	47993799	GGCCTCTCACCTTCACACCAGGAGCACCC	G	A47993807C	COL2A1	NM_001844.5(COL2A1):c.906_924+9del	noncoding	Pathogenic
12	47993849	AG	A	G47993851C	COL2A1	NM_001844.5(COL2A1):c.883del:p.Leu295fs	coding	Pathogenic
12	47995893	T	TG	A47995896G	COL2A1	NM_001844.5(COL2A1):c.635dup:p.Gly213fs	coding	Pathogenic
12	47996587	CT	C	T47996591C	COL2A1	NM_001844.5(COL2A1):c.569del:p.Lys190fs	coding	Pathogenic
12	47997617	CA	C	A47997618G	COL2A1	NM_001844.5(COL2A1):c.519del:p.Gly174fs	coding	Pathogenic/Likely_pathogenic
12	47997617	C	CA	G47997619A	COL2A1	NM_001844.5(COL2A1):c.519dup:p.Gly174fs	coding	Pathogenic
12	47997626	CA	C	A47997627G	COL2A1	NM_001844.5(COL2A1):c.510del:p.Gly171fs	coding	Pathogenic
12	47997627	AG	A	G47997633C	COL2A1	NM_001844.5(COL2A1):c.509del:p.Pro170fs	coding	Pathogenic
12	47997644	CA	C	A47997645G	COL2A1	NM_001844.5(COL2A1):c.492del:p.Gly165fs	coding	Pathogenic
12	47997645	A	AG	C47997652G	COL2A1	NM_001844.5(COL2A1):c.491dup:p.Gly165fs	coding	Pathogenic/Likely_pathogenic
12	47997651	GC	G	C47997653A	COL2A1	NM_001844.5(COL2A1):c.485del:p.Gly162fs	coding	Pathogenic
12	47997897	C	CT	C47997899T	COL2A1	NM_001844.5(COL2A1):c.402dup:p.Gly135fs	coding	Pathogenic
12	47998060	A	AT	C47998061T	COL2A1	NM_001844.5(COL2A1):c.346_347insA:p.Val116fs	coding	Pathogenic
12	48000038	TCA	T	C48000041G	COL2A1	NM_001844.5(COL2A1):c.171_172del:p.Cys57_Asp58delinsTer	coding	Pathogenic
12	48004289	CA	C	A48004290C	COL2A1	NM_001844.5(COL2A1):c.32del:p.Val11fs	coding	Pathogenic
12	48122846	TG	T	G48122848A	PFKM	NM_000289.6(PFKM):c.74del:p.Gly25fs	coding	Pathogenic
12	48133009	A	ACCTTC	G48133016C	PFKM	NM_000289.6(PFKM):c.381_385dup:p.Arg129fs	coding	Pathogenic
12	48134726	T	TG	C48134729G	PFKM	NM_000289.6(PFKM):c.646dup:p.Ala216fs	coding	Pathogenic
12	48135318	AC	A	C48135321G	PFKM	NM_000289.6(PFKM):c.874del:p.Arg292fs	coding	Pathogenic
12	48140864	AG	A	G48140868C	PFKM	NM_000289.6(PFKM):c.1338del:p.Gln447fs	coding	Pathogenic
12	48140875	TG	T	G48140879A	PFKM	NM_000289.6(PFKM):c.1341+8del	noncoding	Benign
12	48141031	A	AG	C48141033G	PFKM	NM_000289.6(PFKM):c.1341+161dup	noncoding	Benign
12	48142019	TC	T	C48142020A	PFKM	NM_000289.6(PFKM):c.1607del:p.Gly535_Ser536insTer	coding	Pathogenic
12	48142508	TTTTG	T	G48142516T	PFKM	NM_000289.6(PFKM):c.1654-266_1654-263del	noncoding	Benign
12	48142829	GT	G	T48142832A	PFKM	NM_000289.6(PFKM):c.1704del:p.Phe568fs	coding	Pathogenic
12	48142888	CA	C	A48142889G	PFKM	NM_000289.6(PFKM):c.1761del:p.Ala588fs	coding	Pathogenic
12	48143098	CT	C	T48143099G	PFKM	NM_000289.6(PFKM):c.1818+153del	noncoding	Benign
12	48145111	CAA	C	A48145113G	PFKM	NM_000289.6(PFKM):c.2075_2076del:p.Lys692fs	coding	Pathogenic
12	48145113	AAG	A	A48145118T	PFKM	NM_000289.6(PFKM):c.2080_2081del:p.Ser694fs	coding	Pathogenic
12	48831248	CTTGAGG	C	A48831252G	DDX23	NM_004818.3(DDX23):c.2127_2132del:p.Asn709_Leu710del	coding	Pathogenic
12	48903937	A	AAAAT	A48903985T	CCDC65	Single_allele	noncoding	Benign
12	48903937	A	AAAATAAAT	A48903985T	CCDC65	Single_allele	noncoding	Benign
12	48903937	AAAATAAATAAAT	A	T48903973A	CCDC65	Single_allele	noncoding	Benign
12	48903937	AAAAT	A	T48903981A	CCDC65	Single_allele	noncoding	Benign
12	48918401	AC	A	C48918404T	CCDC65	NM_033124.5(CCDC65):c.739del:p.Leu247fs	coding	Pathogenic
12	48921091	CG	C	G48921096A	CCDC65	NM_033124.5(CCDC65):c.1179+14del	noncoding	Benign
12	48921517	A	AT	G48921533T	CCDC65	NM_033124.5(CCDC65):c.*89dup	noncoding	Benign
12	48921517	A	ATT	G48921533T	CCDC65	NM_033124.5(CCDC65):c.*88_*89dup	noncoding	Benign
12	48940113	G	GA	C48940122A	ARF3	NM_001659.3(ARF3):c.149-14dup	noncoding	Benign
12	48966523	TG	T	G48966524C	WNT10B	NM_003394.4(WNT10B):c.741del:p.Lys246_Cys247insTer	coding	Pathogenic
12	48968156	CAG	C	A48968157T	WNT10B	NM_003394.4(WNT10B):c.499_500del:p.Leu167fs	coding	Pathogenic
12	48970289	GTGTTGGCCGTCAGCGGCGGC	G	G48970291C	WNT10B	NM_003394.4(WNT10B):c.117_136del:p.Glu39fs	coding	Pathogenic
12	48979647	GGCAGTTCCGGAATC	G	A48979650C	WNT1	NM_005430.4(WNT1):c.287_300del:p.Gln96fs	coding	Pathogenic
12	48980541	GCC	G	C48980544G	WNT1	NM_005430.4(WNT1):c.479_480del:p.Pro160fs	coding	Pathogenic
12	48980563	C	CT	G48980565T	WNT1	NM_005430.4(WNT1):c.499dup:p.Trp167fs	coding	Pathogenic
12	48980564	T	TG	C48980572G	WNT1	NM_005430.4(WNT1):c.506dup:p.Cys170fs	coding	Pathogenic
12	49021873	CTGAA	C	T49021874A	KMT2D	NM_003482.4(KMT2D):c.16522-5_16522-2del	coding	Pathogenic
12	49022093	CTT	C	T49022095G	KMT2D	NM_003482.4(KMT2D):c.16469_16470del:p.Lys5490fs	coding	Pathogenic
12	49022757	G	GC	G49022760C	KMT2D	NM_003482.4(KMT2D):c.16170dup:p.Leu5391fs	coding	Pathogenic
12	49026725	CCA	C	C49026728T	KMT2D	NM_003482.4(KMT2D):c.15239_15240del:p.Val5080fs	coding	Pathogenic
12	49026738	T	TGCCCC	T49026748C	KMT2D	NM_003482.4(KMT2D):c.15223_15227dup:p.Leu5077fs	coding	Pathogenic
12	49027042	CG	C	G49027045A	KMT2D	NM_003482.4(KMT2D):c.14923del:p.Arg4975fs	coding	Pathogenic
12	49027139	C	CA	G49027141A	KMT2D	NM_003482.4(KMT2D):c.14826dup:p.Glu4943Ter	coding	Pathogenic
12	49027862	CA	C	A49027863T	KMT2D	NM_003482.4(KMT2D):c.14583del:p.Asp4861fs	coding	Pathogenic
12	49028937	T	TA	G49028940A	KMT2D	NM_003482.4(KMT2D):c.14272dup:p.Tyr4758fs	coding	Pathogenic
12	49029188	AGCTGGCACAAT	A	G49029193T	KMT2D	NM_003482.4(KMT2D):c.14113_14123del:p.Ile4705fs	coding	Pathogenic
12	49029404	A	AC	A49029406C	KMT2D	NM_003482.4(KMT2D):c.14071dup:p.Val4691fs	coding	Pathogenic
12	49030389	T	TG	T49030394G	KMT2D	NM_003482.4(KMT2D):c.13889dup:p.Pro4631fs	coding	Pathogenic
12	49030443	A	AG	T49030448G	KMT2D	NM_003482.4(KMT2D):c.13840-8dup	noncoding	Benign
12	49031020	C	CT	G49031023T	KMT2D	NM_003482.4(KMT2D):c.13543dup:p.Arg4515fs	coding	Pathogenic
12	49031090	TTCTG	T	T49031095A	KMT2D	NM_003482.4(KMT2D):c.13531-61_13531-58del	noncoding	Benign
12	49031419	TG	T	G49031422C	KMT2D	NM_003482.4(KMT2D):c.13285del:p.Gln4429fs	coding	Pathogenic
12	49031465	T	TA	G49031466A	KMT2D	NM_003482.4(KMT2D):c.13239_13240insT:p.Ser4414Ter	coding	Pathogenic
12	49031967	AG	A	G49031969C	KMT2D	NM_003482.4(KMT2D):c.12737del:p.Pro4246fs	coding	Pathogenic
12	49032288	AAC	A	C49032290G	KMT2D	NM_003482.4(KMT2D):c.12415_12416del:p.Val4139fs	coding	Pathogenic
12	49032395	GC	AA	G49032395A	KMT2D	NM_003482.4(KMT2D):c.12309_12310delinsTT:p.Gln4103_Gln4104delinsHisTer	coding	Pathogenic
12	49033345	A	AC	A49033348C	KMT2D	NM_003482.4(KMT2D):c.11359dup:p.Val3787fs	coding	Pathogenic
12	49033846	C	CT	G49033848T	KMT2D	NM_003482.4(KMT2D):c.10858dup:p.Ser3620fs	coding	Pathogenic
12	49033872	T	TTGCTGTTGTTGCTGCTGCTGC	T49033913G	KMT2D	NM_003482.4(KMT2D):c.10812_10832dup:p.Gln3606_Gln3612dup	coding	Benign/Likely_benign
12	49034118	C	CT	C49034121T	KMT2D	NM_003482.4(KMT2D):c.10688dup:p.Leu3564fs	coding	Pathogenic
12	49034118	C	CTTCT	C49034123T	KMT2D	NM_003482.4(KMT2D):c.10685_10688dup:p.Leu3564fs	coding	Pathogenic
12	49034168	GC	G	C49034169T	KMT2D	NM_003482.4(KMT2D):c.10638del:p.Gln3546fs	coding	Pathogenic
12	49034181	CAG	C	A49034184C	KMT2D	NM_003482.4(KMT2D):c.10624_10625del:p.Leu3542fs	coding	Pathogenic
12	49034627	TC	T	C49034633G	KMT2D	NM_003482.4(KMT2D):c.10394del:p.Gly3465fs	coding	Pathogenic
12	49034871	C	CA	G49034875A	KMT2D	NM_003482.4(KMT2D):c.10295dup:p.Leu3432fs	coding	Pathogenic
12	49034908	A	AT	A49034910T	KMT2D	NM_003482.4(KMT2D):c.10258dup:p.Ile3420fs	coding	Pathogenic
12	49037246	CT	C	T49037247G	KMT2D	NM_003482.4(KMT2D):c.10109del:p.Gln3370fs	coding	Pathogenic
12	49037362	TGGGCATCAGTGGCTGGGGCAAACCTGGCTGTC	T	T49037368C	KMT2D	NM_003482.4(KMT2D):c.9962_9993del:p.Arg3321fs	coding	Pathogenic
12	49037473	T	TGGCCTGGGCAG	T49037492G	KMT2D	NM_003482.4(KMT2D):c.9872_9882dup:p.Met3295fs	coding	Pathogenic
12	49037531	C	CT	G49037533T	KMT2D	NM_003482.4(KMT2D):c.9824dup:p.Gln3276fs	coding	Pathogenic
12	49037582	CT	C	T49037584C	KMT2D	NM_003482.4(KMT2D):c.9773del:p.Lys3258fs	coding	Pathogenic
12	49038791	CG	C	G49038792C	KMT2D	NM_003482.4(KMT2D):c.8564del:p.Ala2855fs	coding	Pathogenic
12	49039831	CT	C	T49039833C	KMT2D	NM_003482.4(KMT2D):c.7938del:p.Asp2647fs	coding	Pathogenic
12	49040119	CA	C	A49040120G	KMT2D	NM_003482.4(KMT2D):c.7650del:p.Val2551fs	coding	Pathogenic
12	49040156	G	GA	G49040160A	KMT2D	NM_003482.4(KMT2D):c.7613dup:p.Gln2540fs	coding	Pathogenic
12	49040290	AC	A	C49040296A	KMT2D	NM_003482.4(KMT2D):c.7479del:p.Phe2494fs	coding	Pathogenic
12	49040362	G	GA	T49040363A	KMT2D	NM_003482.4(KMT2D):c.7407_7408insT:p.Pro2470fs	coding	Pathogenic
12	49040391	CG	C	G49040394A	KMT2D	NM_003482.4(KMT2D):c.7378del:p.Arg2460fs	coding	Pathogenic
12	49040463	CA	C	A49040468G	KMT2D	NM_003482.4(KMT2D):c.7306del:p.Cys2436fs	coding	Pathogenic
12	49040546	G	GA	G49040550A	KMT2D	NM_003482.4(KMT2D):c.7223dup:p.Ser2409fs	coding	Pathogenic
12	49040726	CCTTAGGCCCAAGCCCGGGCTCTGGGGCT	C	T49040729A	KMT2D	NM_003482.4(KMT2D):c.7016_7043del:p.Glu2339fs	coding	Pathogenic
12	49040777	CA	C	A49040778G	KMT2D	NM_003482.4(KMT2D):c.6992del:p.Leu2331fs	coding	Pathogenic/Likely_pathogenic
12	49040783	G	GA	G49040784A	KMT2D	NM_003482.4(KMT2D):c.6986_6987insT:p.Leu2331fs	coding	Pathogenic
12	49041157	C	TT	C49041157T	KMT2D	NM_003482.4(KMT2D):c.6613delinsAA:p.Ala2205fs	coding	Pathogenic
12	49041415	CG	C	G49041421C	KMT2D	NM_003482.4(KMT2D):c.6354del:p.Ala2119fs	coding	Pathogenic
12	49041446	C	CG	A49041452G	KMT2D	NM_003482.4(KMT2D):c.6323dup:p.Gln2109fs	coding	Pathogenic
12	49041528	T	TC	A49041530C	KMT2D	NM_003482.4(KMT2D):c.6241dup:p.Glu2081fs	coding	Pathogenic
12	49041922	AG	A	G49041927C	KMT2D	NM_003482.4(KMT2D):c.6177del:p.Tyr2060fs	coding	Pathogenic
12	49042111	AGGAAAATTAATGTT	A	A49042114C	KMT2D	NM_003482.4(KMT2D):c.6073_6086del:p.Ala2024_Asn2025insTer	coding	Pathogenic
12	49042734	GTATTACCTTGAAGAAAGGGCCTCTGCAGTGGCGTAC	TGAAGA	G49042734T	KMT2D	NM_003482.4(KMT2D):c.5753_5782+7delinsTCTTCA	noncoding	Pathogenic
12	49043074	ACCTT	A	C49043076T	KMT2D	NM_003482.4(KMT2D):c.5642_5644+1del	noncoding	Pathogenic
12	49043369	TA	T	A49043370T	KMT2D	NM_003482.4(KMT2D):c.5526del:p.Asp1842fs	coding	Pathogenic
12	49043442	T	TC	T49043449C	KMT2D	NM_003482.4(KMT2D):c.5468-15dup	noncoding	Benign
12	49043909	T	TGC	C49043914G	KMT2D	NM_003482.4(KMT2D):c.5276_5277dup:p.Lys1760fs	coding	Pathogenic
12	49046067	AC	A	C49046068A	KMT2D	NM_003482.4(KMT2D):c.4690del:p.Val1564fs	coding	Pathogenic
12	49046378	AG	A	G49046379T	KMT2D	NM_003482.4(KMT2D):c.4464del:p.Cys1489fs	coding	Pathogenic
12	49048057	CCA	C	C49048064T	KMT2D	NM_003482.4(KMT2D):c.4142_4143del:p.Val1381fs	coding	Pathogenic
12	49048573	C	CA	G49048577A	KMT2D	NM_003482.4(KMT2D):c.4131+83dup	noncoding	Benign
12	49049218	CCT	C	C49049219G	KMT2D	NM_003482.4(KMT2D):c.3907-2_3907-1del	coding	Pathogenic
12	49050226	TC	T	C49050227T	KMT2D	NM_003482.4(KMT2D):c.3361del:p.Asp1121fs	coding	Pathogenic
12	49050269	TG	T	G49050274C	KMT2D	NM_003482.4(KMT2D):c.3318del:p.Ser1107fs	coding	Pathogenic
12	49050974	AGGCTCAGACAGGGCT	A	A49050980T	KMT2D	NM_003482.4(KMT2D):c.2694_2708del:p.Ala899_Pro903del	coding	Benign/Likely_benign
12	49051138	AT	A	T49051140C	KMT2D	NM_003482.4(KMT2D):c.2544del:p.Glu848fs	coding	Pathogenic
12	49051419	C	CG	A49051426G	KMT2D	NM_003482.4(KMT2D):c.2263dup:p.Arg755fs	coding	Pathogenic/Likely_pathogenic
12	49051508	CAG	C	A49051509G	KMT2D	NM_003482.4(KMT2D):c.2173_2174del:p.Leu725fs	coding	Pathogenic
12	49052190	GGC	G	C49052192G	KMT2D	NM_003482.4(KMT2D):c.1491_1492del:p.Pro497_Pro498insTer	coding	Pathogenic
12	49053612	G	GC	T49053617C	KMT2D	NM_003482.4(KMT2D):c.702dup:p.Pro235fs	coding	Pathogenic
12	49053646	AG	A	G49053651T	KMT2D	NM_003482.4(KMT2D):c.674-6del	noncoding	Benign
12	49053976	AC	A	C49053979A	KMT2D	NM_003482.4(KMT2D):c.673+1del	noncoding	Pathogenic
12	49054426	TG	T	G49054429A	KMT2D	NM_003482.4(KMT2D):c.401-11del	noncoding	Benign/Likely_benign
12	49054721	AC	A	C49054722A	KMT2D	NM_003482.4(KMT2D):c.206del:p.Cys69fs	coding	Pathogenic
12	49054722	CAG	C	A49054727C	KMT2D	NM_003482.4(KMT2D):c.204_205del:p.Leu68_Cys69insTer	coding	Pathogenic
12	49129740	GAT	G	A49129743C	TUBA1B	NM_006082.3(TUBA1B):c.4-20_4-19del	noncoding	Benign
12	49185063	CCTCCTCATAATCCTT	C	C49185067A	TUBA1A	NM_006009.4(TUBA1A):c.1288_1302del:p.Lys430_Glu434del	coding	Pathogenic
12	49186969	AC	A	C49186970A	TUBA1A	NM_006009.4(TUBA1A):c.4-137del	noncoding	Benign
12	49950918	TCTGCCCTCAACTGGCCACAGGCC	T	A49950927T	AQP2	NM_000486.6(AQP2):c.97_119del:p.Asn33fs	coding	Pathogenic/Likely_pathogenic
12	49950955	TAC	T	C49950957G	AQP2	NM_000486.6(AQP2):c.127_128del:p.Gln43fs	coding	Pathogenic
12	49954168	CG	C	G49954169A	AQP2	NM_000486.6(AQP2):c.375del:p.Thr126fs	coding	Pathogenic
12	49954295	TG	CA	T49954295C	AQP2	NM_000486.6(AQP2):c.501_502inv:p.Val168Met	coding	Pathogenic
12	49955587	GCCACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCT	G	C49955589T	AQP2	NM_000486.6(AQP2):c.797_*17del:p.Pro266fs	coding	Pathogenic
12	49962391	TGGG	T	G49962399T	AQP5	NM_001651.4(AQP5):c.363+19_363+21del	noncoding	Benign
12	49962391	TG	T	G49962401T	AQP5	NM_001651.4(AQP5):c.363+21del	noncoding	Benign
12	49962391	T	TG	T49962402G	AQP5	NM_001651.4(AQP5):c.363+21dup	noncoding	Benign
12	49992505	G	GA	T49992513A	RACGAP1	NM_001319999.2(RACGAP1):c.1445+38dup	noncoding	Benign
12	50086481	G	GGTGGTGGTA	G50086490A	SMARCD1	NM_003076.5(SMARCD1):c.366-132_366-131insAGTGGTGGT	noncoding	Benign
12	50098751	G	GC	G50098754C	SMARCD1	NM_003076.5(SMARCD1):c.1432dup:p.Arg478fs	coding	Pathogenic
12	51004873	CCCA	C	C51004875A	SLC11A2	NM_000617.3(SLC11A2):c.341_343del:p.Val114del	coding	Pathogenic
12	51004909	TAAG	T	G51004915C	SLC11A2	NM_000617.3(SLC11A2):c.310-5_310-3del	noncoding	Pathogenic
12	51684533	TG	T	G51684535A	SCN8A	NM_001330260.2(SCN8A):c.395+243del	noncoding	Benign
12	51721527	TC	T	C51721530T	SCN8A	NM_001330260.2(SCN8A):c.1636-16del	noncoding	Benign/Likely_benign
12	51745885	C	CT	A51745899T	SCN8A	NM_001330260.2(SCN8A):c.1999-5dup	noncoding	Benign
12	51751584	AGGAAATCT	A	A51751587T	SCN8A	NM_001330260.2(SCN8A):c.2364_2370+1del	coding	Pathogenic
12	51765654	G	GT	C51765665T	SCN8A	NM_001330260.2(SCN8A):c.2545-7dup	noncoding	Benign
12	51765654	G	GTT	C51765665T	SCN8A	NM_001330260.2(SCN8A):c.2545-8_2545-7dup	noncoding	Benign
12	51765817	TG	T	G51765819A	SCN8A	NM_001330260.2(SCN8A):c.2693del:p.Gly898fs	coding	Pathogenic
12	51774204	T	TACATTGAGCAGAGAAAGACCATCCGCACCATCCTGGAATATGCTGACAAAGTCTTC	C51774263A	SCN8A	NM_001330260.2(SCN8A):c.3664_3719dup:p.Tyr1241fs	coding	Pathogenic
12	51786662	TA	T	A51786663C	SCN8A	NM_001330260.2(SCN8A):c.4064del:p.Tyr1355fs	coding	Pathogenic
12	51786720	CTG	C	T51786721A	SCN8A	NM_001330260.2(SCN8A):c.4122_4123del:p.Glu1375fs	coding	Pathogenic
12	51794431	A	AT	G51794433T	SCN8A	NM_001330260.2(SCN8A):c.4586dup:p.Met1529fs	coding	Pathogenic
12	51794449	AAC	A	C51794451T	SCN8A	NM_001330260.2(SCN8A):c.4605_4606del:p.Met1536fs	coding	Pathogenic
12	51794495	T	TG	A51794498G	SCN8A	NM_001330260.2(SCN8A):c.4651dup:p.Glu1551fs	coding	Pathogenic
12	51912487	T	TC	A51912493C	ACVRL1	NM_000020.3(ACVRL1):c.18dup:p.Arg7fs	coding	Pathogenic
12	51912522	C	CT	G51912525T	ACVRL1	NM_000020.3(ACVRL1):c.50dup:p.Leu17fs	coding	Pathogenic
12	51913101	GA	G	A51913102C	ACVRL1	NM_000020.3(ACVRL1):c.65del:p.Asp22fs	coding	Pathogenic
12	51913102	AC	A	C51913105T	ACVRL1	NM_000020.3(ACVRL1):c.68del:p.Pro23fs	coding	Pathogenic
12	51913104	CCTGTGAAGCCGTCTCGGGGCCCG	C	T51913108G	ACVRL1	NM_000020.3(ACVRL1):c.71_93del:p.Val24fs	coding	Pathogenic
12	51913111	AGCC	GCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG	A51913111G	ACVRL1	NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG:p.Lys25_Pro26delinsSerCysTer	coding	Pathogenic
12	51913114	CGTCT	C	G51913115C	ACVRL1	NM_000020.3(ACVRL1):c.78_81del:p.Ser27fs	coding	Pathogenic
12	51913136	C	CT	G51913138T	ACVRL1	NM_000020.3(ACVRL1):c.100dup:p.Cys34fs	coding	Pathogenic
12	51913150	GCC	G	C51913152A	ACVRL1	NM_000020.3(ACVRL1):c.115_116del:p.Pro39fs	coding	Pathogenic
12	51913162	AGGGGCCTACCTGCC	A	C51913167G	ACVRL1	NM_000020.3(ACVRL1):c.130_143del:p.Pro44fs	coding	Pathogenic
12	51913162	AGGGGCCTACCTGCCGG	A	A51913170G	ACVRL1	NM_000020.3(ACVRL1):c.133_148del:p.Thr45fs	coding	Pathogenic
12	51913164	GGGCCT	G	G51913165A	ACVRL1	NM_000020.3(ACVRL1):c.128_132del:p.Gly43fs	coding	Pathogenic
12	51913167	CCTACCTGCCGGGGGGC	TGCACAGTAGTG	C51913167T	ACVRL1	NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG:p.Pro44fs	coding	Pathogenic
12	51913168	C	CCACA	T51913169C	ACVRL1	NM_000020.3(ACVRL1):c.131_132insCACA:p.Cys46fs	coding	Pathogenic
12	51913213	A	AGGGG	A51913218G	ACVRL1	NM_000020.3(ACVRL1):c.177_180dup:p.Arg61fs	coding	Pathogenic
12	51913228	AG	A	G51913230A	ACVRL1	NM_000020.3(ACVRL1):c.193del:p.Glu65fs	coding	Pathogenic
12	51913247	GAAC	AAA	G51913247A	ACVRL1	NM_000020.3(ACVRL1):c.210_213delinsAAA:p.Leu72fs	coding	Pathogenic
12	51913257	AG	A	G51913260A	ACVRL1	NM_000020.3(ACVRL1):c.223del:p.Glu75fs	coding	Pathogenic
12	51913276	G	GT	C51913277T	ACVRL1	NM_000020.3(ACVRL1):c.239_240insT:p.Thr82fs	coding	Pathogenic
12	51913592	A	ATGGCCAGC	C51913606A	ACVRL1	NM_000020.3(ACVRL1):c.353_360dup:p.Leu121fs	coding	Pathogenic
12	51913601	TGGCCCTGATCCTG	T	T51913607C	ACVRL1	NM_000020.3(ACVRL1):c.362_374del:p.Leu121fs	coding	Pathogenic
12	51913603	GC	G	C51913606T	ACVRL1	NM_000020.3(ACVRL1):c.361del:p.Ala120_Leu121insTer	coding	Pathogenic
12	51913616	GC	G	C51913620G	ACVRL1	NM_000020.3(ACVRL1):c.375del:p.Val126fs	coding	Pathogenic
12	51913621	G	GT	G51913623T	ACVRL1	NM_000020.3(ACVRL1):c.377dup:p.Leu127fs	coding	Pathogenic
12	51913643	TG	T	G51913645C	ACVRL1	NM_000020.3(ACVRL1):c.400del:p.Ala134fs	coding	Pathogenic
12	51913656	CCT	C	C51913657G	ACVRL1	NM_000020.3(ACVRL1):c.412_413del:p.Leu138fs	coding	Pathogenic
12	51913677	AC	A	C51913678G	ACVRL1	NM_000020.3(ACVRL1):c.433del:p.Arg145fs	coding	Pathogenic
12	51913678	CG	C	G51913680A	ACVRL1	NM_000020.3(ACVRL1):c.435del:p.Arg146fs	coding	Pathogenic
12	51913739	AAGCATCTGAGCAGGGCGAC	A	C51913745G	ACVRL1	NM_000020.3(ACVRL1):c.500_518del:p.Ser167fs	coding	Pathogenic
12	51913745	CT	C	T51913746G	ACVRL1	NM_000020.3(ACVRL1):c.501del:p.Glu168fs	coding	Pathogenic
12	51913754	GC	G	C51913755G	ACVRL1	NM_000020.3(ACVRL1):c.510del:p.Asp171fs	coding	Pathogenic
12	51914482	TGA	T	A51914486T	ACVRL1	NM_000020.3(ACVRL1):c.673_674del:p.Ser225fs	coding	Pathogenic
12	51914510	T	TCG	A51914513C	ACVRL1	NM_000020.3(ACVRL1):c.698_699dup:p.Asp235fs	coding	Pathogenic
12	51914513	AG	A	G51914516A	ACVRL1	NM_000020.3(ACVRL1):c.703del:p.Asp235fs	coding	Pathogenic
12	51914538	AG	A	G51914539A	ACVRL1	NM_000020.3(ACVRL1):c.726del:p.Thr243fs	coding	Pathogenic
12	51914578	CA	C	A51914579T	ACVRL1	NM_000020.3(ACVRL1):c.766del:p.Ile256fs	coding	Pathogenic
12	51914716	TTTTAA	T	A51914760T	ACVRL1	NM_000020.3(ACVRL1):c.772+132TTTAA[8]	noncoding	Benign
12	51914716	T	TTTTAA	T51914765A	ACVRL1	NM_000020.3(ACVRL1):c.772+132TTTAA[10]	noncoding	Benign
12	51914716	T	TTTTAATTTAA	T51914765A	ACVRL1	NM_000020.3(ACVRL1):c.772+132TTTAA[11]	noncoding	Benign
12	51915257	TCGAG	T	G51915259A	ACVRL1	NM_000020.3(ACVRL1):c.807_810del:p.Ser270fs	coding	Pathogenic
12	51915310	C	CA	G51915311A	ACVRL1	NM_000020.3(ACVRL1):c.858_859insA:p.Asp287fs	coding	Pathogenic
12	51915331	GC	G	C51915332T	ACVRL1	NM_000020.3(ACVRL1):c.880del:p.Leu294fs	coding	Pathogenic
12	51915351	TG	T	G51915352A	ACVRL1	NM_000020.3(ACVRL1):c.900del:p.Arg301fs	coding	Pathogenic
12	51915381	T	TG	C51915384G	ACVRL1	NM_000020.3(ACVRL1):c.931dup:p.Ala311fs	coding	Pathogenic
12	51915423	C	CGCGACAAG	A51915424G	ACVRL1	NM_000020.3(ACVRL1):c.971_972insGCGACAAG:p.Ala325fs	coding	Pathogenic
12	51915439	C	CGACTTCA	A51915447G	ACVRL1	NM_000020.3(ACVRL1):c.988_994dup:p.Lys332fs	coding	Pathogenic
12	51915461	CT	C	T51915462G	ACVRL1	NM_000020.3(ACVRL1):c.1010del:p.Leu337fs	coding	Pathogenic
12	51915493	C	CGACCTGG	T51915502A	ACVRL1	NM_000020.3(ACVRL1):c.1043_1048+1dup	coding	Pathogenic
12	51916057	AG	A	G51916060C	ACVRL1	NM_000020.3(ACVRL1):c.1073del:p.Gly358fs	coding	Pathogenic
12	51916201	TG	T	G51916202T	ACVRL1	NM_000020.3(ACVRL1):c.1215del:p.Trp406fs	coding	Pathogenic
12	51919080	AC	A	C51919085A	ACVRL1	NM_000020.3(ACVRL1):c.1347del:p.Thr450fs	coding	Pathogenic
12	51919093	C	CGG	T51919094G	ACVRL1	NM_000020.3(ACVRL1):c.1355_1356insGG:p.Asn453fs	coding	Pathogenic
12	51919103	GG	C	G51919103C	ACVRL1	NM_000020.3(ACVRL1):c.1365_1366delinsC:p.Ala456fs	coding	Pathogenic
12	51919361	C	CTCTG	G51919367C	ACVRL1	NM_000020.3(ACVRL1):c.1377+248_1377+251dup	noncoding	Benign
12	51919363	C	CTG	T51919405G	ACVRL1	NM_000020.3(ACVRL1):c.1377+249TG[21]	noncoding	Benign
12	51919363	C	CTGTG	T51919405G	ACVRL1	NM_000020.3(ACVRL1):c.1377+249TG[22]	noncoding	Benign
12	51919363	C	CTGTGTG	T51919405G	ACVRL1	NM_000020.3(ACVRL1):c.1377+249TG[23]	noncoding	Benign/Likely_benign
12	51919363	CTG	C	G51919403T	ACVRL1	NM_000020.3(ACVRL1):c.1377+249TG[19]	noncoding	Benign
12	51919363	CTGTG	C	G51919401T	ACVRL1	NM_000020.3(ACVRL1):c.1377+249TG[18]	noncoding	Benign
12	51920143	G	GGTTGATGAGCTTCCTGGGATGA	G51920165A	ACVRL1	NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG	noncoding	Benign
12	51920760	T	TC	T51920763C	ACVRL1	NM_000020.3(ACVRL1):c.1381dup:p.Leu461fs	coding	Pathogenic
12	52302841	TGG	T	G52302850T	KRT86	NM_001320198.2(KRT86):c.370-250_370-249del	noncoding	Benign
12	52302841	TG	T	G52302851T	KRT86	NM_001320198.2(KRT86):c.370-249del	noncoding	Benign
12	52302841	T	TGG	T52302852G	KRT86	NM_001320198.2(KRT86):c.370-250_370-249dup	noncoding	Benign
12	52302841	T	TG	T52302852G	KRT86	NM_001320198.2(KRT86):c.370-249dup	noncoding	Benign
12	52302845	G	GA	G52302846A	KRT86	NM_001320198.2(KRT86):c.370-255_370-254insA	noncoding	Benign
12	52308856	G	GT	G52308865T	KRT86	NM_001320198.2(KRT86):c.*279dup	noncoding	Benign
12	52308856	G	GTT	G52308865T	KRT86	NM_001320198.2(KRT86):c.*278_*279dup	noncoding	Benign
12	52314946	A	AGGTGT	A52314949T	KRT83	NM_002282.3(KRT83):c.1295-129_1295-128insCCACA	noncoding	Benign
12	52319415	CA	C	A52319418G	KRT83	NM_002282.3(KRT83):c.385-52del	noncoding	Benign
12	52488627	G	GAGA	A52488629G	KRT6A	NM_005554.4(KRT6A):c.1204-80_1204-79insTTC	noncoding	Benign
12	52515064	AG	A	G52515065C	KRT5	NM_000424.4(KRT5):c.1650del:p.Ser551fs	coding	Pathogenic
12	52515073	CACTG	C	C52515075G	KRT5	NM_000424.4(KRT5):c.1638_1641del:p.Ser547fs	coding	Pathogenic
12	52515079	GC	G	C52515082A	KRT5	NM_000424.4(KRT5):c.1635del:p.Leu546fs	coding	Pathogenic
12	52516743	CCTGCTTGGCCTT	C	T52516748A	KRT5	NM_000424.4(KRT5):c.1321_1332del:p.Lys441_Gln444del	coding	Pathogenic
12	52518162	AC	A	C52518164T	KRT5	NM_000424.4(KRT5):c.771delG	coding	Pathogenic
12	52545623	AGAG	A	G52545627A	KRT71	NM_033448.3(KRT71):c.1326-27_1326-25del	noncoding	Benign
12	52548000	CAG	C	A52548003T	KRT71	NM_033448.3(KRT71):c.979-20_979-19del	noncoding	Benign
12	52570158	A	AG	C52570159G	KRT74	NM_175053.4(KRT74):c.1009-175_1009-174insC	noncoding	Benign
12	52572360	TC	T	C52572365A	KRT74	NM_175053.4(KRT74):c.686+92del	noncoding	Benign
12	52675370	G	GC	A52675376C	KRT1	NM_006121.4(KRT1):c.1757dup:p.Tyr587fs	coding	Pathogenic
12	52675499	AC	A	C52675501T	KRT1	NM_006121.4(KRT1):c.1628del:p.Gly543fs	coding	Pathogenic
12	52676350	TCCTGGTAGTCGCGCAGCAGGCGGG	T	T52676353A	KRT1	NM_006121.4(KRT1):c.1376_1399del:p.Ala459_Gln466del	coding	Pathogenic
12	52949347	G	GA	G52949348A	KRT18;KRT8;LOC106096416	NM_000224.3(KRT18):c.174_175insA:p.Gly59fs	coding	Benign
12	53058479	CCAGGTGGCAGG	C	T53058506C	TNS2	NM_170754.4(TNS2):c.1225+35CAGGTGGCAGG[2]	noncoding	Benign
12	53307871	AG	A	G53307873A	AAAS	NM_015665.6(AAAS):c.1389del:p.Phe464fs	coding	Pathogenic
12	53307888	ATGAGC	A	A53307891G	AAAS	NM_015665.6(AAAS):c.1368_1372del:p.Gln456fs	coding	Pathogenic
12	53307902	G	GGC	T53307905G	AAAS	NM_015665.6(AAAS):c.1357_1358dup:p.Gln454fs	coding	Pathogenic
12	53308071	CAG	C	A53308072G	AAAS	NM_015665.6(AAAS):c.1310_1311del:p.Pro437fs	coding	Pathogenic
12	53308078	GT	G	T53308081C	AAAS	NM_015665.6(AAAS):c.1304del:p.Asn435fs	coding	Pathogenic
12	53308109	TTACCATCCTG	T	A53308114C	AAAS	NM_015665.6(AAAS):c.1264_1273del:p.Gln422fs	coding	Pathogenic
12	53308121	A	AC	T53308125C	AAAS	NM_015665.6(AAAS):c.1261dup:p.Val421fs	coding	Pathogenic
12	53308340	TC	T	C53308345A	AAAS	NM_015665.6(AAAS):c.1190del:p.Gly397fs	coding	Pathogenic
12	53308511	C	CG	C53308513G	AAAS	NM_015665.6(AAAS):c.1104dup:p.Val369fs	coding	Pathogenic
12	53308514	AC	A	C53308518T	AAAS	NM_015665.6(AAAS):c.1101del:p.Cys368fs	coding	Pathogenic
12	53308749	A	AGT	A53308752G	AAAS	NM_015665.6(AAAS):c.1061_1062dup:p.Ser355fs	coding	Pathogenic
12	53309160	AAGAC	A	A53309163C	AAAS	NM_015665.6(AAAS):c.928_931del:p.Val310fs	coding	Pathogenic
12	53309169	GA	G	A53309171G	AAAS	NM_015665.6(AAAS):c.922del:p.Ser308fs	coding	Pathogenic
12	53309639	GC	G	C53309645A	AAAS	NM_015665.6(AAAS):c.771del:p.Arg258fs	coding	Pathogenic
12	53314368	AG	A	G53314370C	AAAS	NM_015665.6(AAAS):c.618del:p.Ser207fs	coding	Pathogenic
12	53314824	CAA	C	A53314826G	AAAS	NM_015665.6(AAAS):c.470_471del:p.Phe157fs	coding	Pathogenic
12	53315110	CA	C	A53315113T	AAAS	NM_015665.6(AAAS):c.429del:p.Phe143fs	coding	Pathogenic
12	53315381	CA	C	A53315382G	AAAS	NM_015665.6(AAAS):c.352del:p.Cys118fs	coding	Pathogenic
12	53320565	CA	C	A53320568T	AAAS	NM_015665.6(AAAS):c.250del:p.Trp84fs	coding	Pathogenic
12	53320604	TG	T	G53320606A	AAAS	NM_015665.6(AAAS):c.211del:p.His71fs	coding	Pathogenic
12	53328389	CT	C	T53328390C	SP7	NM_001173467.3(SP7):c.1052del:p.Glu351fs	coding	Pathogenic
12	53424365	C	CT	A53424367T	AMHR2	NM_020547.3(AMHR2):c.128dup:p.Asp44fs	coding	Pathogenic
12	53425547	GA	G	A53425548G	AMHR2	NM_020547.3(AMHR2):c.596del:p.Glu199fs	coding	Pathogenic
12	53425714	TG	T	G53425716T	AMHR2	NM_020547.3(AMHR2):c.649del:p.Val217fs	coding	Pathogenic
12	53430186	ACTGGGCAATACCCCTACCTCTGATGAG	A	G53430189A	AMHR2	NM_020547.3(AMHR2):c.1332_1358del:p.Gly445_Leu453del	coding	Pathogenic
12	53945100	C	CGCGGCTAGCAAGTTCATCACCAAAACTT	G53945125A	HOXC13	NM_017410.3(HOXC13):c.861_862insACTTGCGGCTAGCAAGTTCATCACCAAA:p.Glu288delinsThrCysGlyTer	coding	Pathogenic
12	55694455	AGCTCTACCTCCAGT	A	G55694456T	ITGA7	NM_002206.3(ITGA7):c.2331_2344del:p.Glu777fs	coding	Pathogenic
12	55698876	C	CT	C55698879T	ITGA7	NM_002206.3(ITGA7):c.831dup:p.Glu278fs	coding	Pathogenic
12	55701051	CG	C	G55701053A	ITGA7	NM_002206.3(ITGA7):c.517del:p.Arg173fs	coding	Pathogenic
12	55701156	TG	T	G55701161A	ITGA7	NM_002206.3(ITGA7):c.415-3del	noncoding	Benign
12	55701259	T	TCACATGCACATG	C55701282T	ITGA7	NM_002206.3(ITGA7):c.415-123CATGTG[5]	noncoding	Benign
12	55702816	A	AACACAC	C55702835A	ITGA7	NM_002206.3(ITGA7):c.414+38GT[12]	noncoding	Benign
12	55703417	T	TACAC	T55703443C	ITGA7	NM_002206.3(ITGA7):c.207-263GT[14]	noncoding	Benign
12	55703417	T	TAC	T55703443C	ITGA7	NM_002206.3(ITGA7):c.207-263GT[13]	noncoding	Benign
12	55707648	G	GC	A55707655C	ITGA7	NM_002206.3(ITGA7):c.34dup:p.Ala12fs	coding	Pathogenic
12	55721197	C	CT	C55721200T	RDH5	NM_002905.5(RDH5):c.15dup:p.Leu6fs	coding	Pathogenic
12	55721277	CT	C	T55721279C	RDH5	NM_002905.5(RDH5):c.95del:p.Phe32fs	coding	Pathogenic
12	55721365	AC	A	C55721370T	RDH5	NM_002905.5(RDH5):c.186del:p.Ser63fs	coding	Pathogenic
12	55721907	GTC	G	T55721910C	RDH5	NM_002905.5(RDH5):c.532_533del:p.Ser178fs	coding	Pathogenic
12	55721935	C	CT	G55721937T	RDH5	NM_002905.5(RDH5):c.558dup:p.Asp187Ter	coding	Pathogenic
12	55723907	GA	G	A55723908T	RDH5	NM_002905.5(RDH5):c.592del:p.Ile198fs	coding	Pathogenic
12	55723939	TC	T	C55723941G	RDH5	NM_002905.5(RDH5):c.625del:p.Arg209fs	coding	Pathogenic
12	55723947	CCT	C	C55723948G	RDH5	NM_002905.5(RDH5):c.632_633del:p.Pro211fs	coding	Pathogenic
12	55845042	C	CATGCTTTATATATTACCTCCTATAGTTCTCACAGCCATCTGGTGAGGGGAAAATTATTCCGGCCACTTTTTGTAGGAGGAAATAGATACTCAGAAAGGGAAATTTGACCAAGAACATGGAACTCCCAACTGGCCTGACCTTATTTAAATCCCTCTGCTGACTCTATAACTCATGCTCTTTCCGTACACCACACTGACACTTAGAGCTTTGTTCTTTAAGTAACTAGGACCCCTGAAGGCTCCACCATCAGTTACACATCATACAACATTTTCATATTGTTCAAAAGCACAGTGAAGTAGACATAGGAATGGGGGAAAAGGTAACTGAACTTTTATGTTCTCAGAAGGGCTGGGAGGCCACAAGGGAACACCTCACAGCCCAGGATCAAGGTGGGGGATGCTCCTGATCCATATTGCTGCCCTCAATGATGCTGGTCCGTCTGGCCCATCCACCACCCAACTGGTAACCATTGGGTGACTAAGTCTCAAGTGACCAGTGACAGGCAAGGAAGGACAGAAAGCCTCTGAGCGATGAGTGACAGGGCCCATCACCAAGGCTGATGCACCCAGGAAATGATGGAGTTTGGGGACAAGTTCCTGCTTAGTCCCCTGCGGGGCTCTTCCTCCTCTCTTTCTACCCCCTTTCCAGTCTTTCTCCTTTTGAGAACAGAACATGCGCCAATTGAAAATTAATTACGATTTTTAAAATTAATGTTTTGTGTTTTTTTCCTGAATAAGTTATTCATCATTCATTATAATATTTGGTATTAGAAAATACCAAAACAAACAAGGAAGAAAATGAAAACCACTAGTAAATTCTACCCAAAAGAGAACCACTAGTAACATTTTGATGCATTTCTTTGAAACTGTCTGTGGAACTGAGCTCACCCAGCTCCGCCTGCCTGGCCTCAGCCCCTAGAGACTGTCTGGGAGGGAGGAGAAAGCTTTGGGAGCCAGAGAGGATAATGGAGGAGAGGTGAGGGGAGGGGTGGGGAAGAGACAGACAAGGAGGATGCAAGGGACAGGAGTAAAGTAAAATGAATGTTATAGCAAATTACTCCCTCCCCTTAGAAACCTCATGTAAGGAAAAAAAGAAAAAAAAATTTTTTTTTGGGTCTCCCAGGCTGGAAAACAGTGGCACAATAATCCTGGCTCGCTGCAACCTTCGCCTTCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGCATAACTGGGGCTACAGGCACACACCACCCAGCCCAGCTAATTTTTGTATTTTTTGTAGAGAGTGTGGGGGGTGGGGGAGGCGGGTTTCCTATGGTGCTCAGGCTGGTCTTGGGCTCAAGTGATCGGCCCACCTCGGCCTCCCAAAATGCTGTGATTATACGTGTGAGCCACTGTGCCTAACCAGAAAAAAAAAGTGTGTGTGTGTATATATATGTGTGTGTATATATATATATATATATTTAGTGTGTTAGGGAGAGAGATGGCAGTTATCATAAGGTGAGGGTGGGTACTAACTCCGGCCTCAGAAGGCCTGGGGGTGGAACTATATTCTAGCAACTTAGGAGCCAGGAGAGAGAGAATAAATCAAAAGTAAAAGCTGCCAAATAGATAACTTCATTTAAATTTTAACAACAACCCTTCAGCCAGTATTATCATCTTTTTTACTCCTTTTCTGAGACTGAATCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCACCCGAATAGCTGGGATTACAGGCGCGTGCCACCACACCCAGCTAATTTTTGTACTTTTAGTAGAGATGGGATTTTGCTGTGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCACCTCCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAGTATTATCATCTTTTTACAGAAAGAGAAACTGAGTCTCTAATAAGTTGCTTCAGGTCACATAGCTAGGATGCAGCAGAGCCTGGAGCAGGCTCTAAAGCTGCCATCTTTGCTCAGCACTCTTCAGTCTCCCAGAGTTCCCACAGGCACCCAAACAAAAGCCCCTAGAGTCTGGAGCTGCAGGCTGGGCACATGTGCAAGGATTGGATGACTAATTGTTGCCAGCACAGCATCATGACCACCCCCTCCACCAGCTCCTACCCCCTGAGCCGGGCTGACCCAGCTCTTTTTTGTCATCTCTAAATTTGTCATCTCTCACTGGGGGAGATGTGGACGTGTGTGCGAAGGGTTAGGACATGTGGCTTGCCTGCCCCAAAAAGAGAACTTGATCTGAGAGAAAAAAATGGGTTCTTTGTCTTGCTTGCTCCCTTCCTGCAAGTTGGTTTCCCTCTCTGTCCACAAATTGTGGCAAAAGAGTTTTACAGAAATATTTTTAATGACAATATTTTAAACTATAGCAAGTGGGAGTAGAGTAGACCTCTGAGAGTATTTTCTAATGATCAGGGGCCATGGGGTTATGGGTGGAAGGCAAAAGTTTGTAGAGATTTCTAAGCCCAGCAGAAGCTAATCTCAAAGCTATCGCCCACCCCCTCTGACAGCCACCCTTACCCTGTGGAGGCAGTGGGCAGGGAAGCTGGGGAAAGAAGAAAGGGGAATCCTGGAGGGCAGGTAGAAGGGCAAGTCTGGAGCCTGAAACTGGAAACTGGAGGTGAGAAAAACATGAGCTGTAACCAAGTTAGGGCTGGCCCCGACTTTGCCCTTGACCTGGATAAATGTGGGAGTTGGTGGTGTTAGCCTCTGACCTGTTTCCCCCTCAGGGAGTCAGGACATAGGGAGCTTTCTTTGGCAGAGTGGGGTTGAATTTTTAAGCTGTTACCCTGGAAACCTCTGTTTTTAGGAGGACTCCCCTACATACCCACAAACACAGACATACACACACACTTTTTTAATTACTCATAAGTTCCTAGAAGCCGTATGGGAAGTGATGGTCAGGACTGTGCACAGCTGGAATTGGTTAGTGACCAGGGAAGTGGGAGGGGCTTGGGGATGGCTCAGGGACAGGGCCAGCACATTCTGTTCCCATGATGCTCCAAACTTCCTCAACCCCCATATGAACACTTCCTGGCATTCCCACCCACCCACCACTGCAGCTTGCACACACACTGCGTCGGGCACTGGCCTGCATCAGCTCAGTTGAGAGGACGTCAGACCCAAATCCAGAAGTTCTTCAGTTTCTGCCAAAGTGTGAGGGAGACCAACATCTGCTCCCCTTCTCCATTTCTCAGAAAAAGGTGCTGTCCCACAGGACTCCCCTGGAAATGGCTGGAGGCTTTTCTTTTCTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCTATGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCATGCCCAGCTAATTTTTGTATTTTCGCTAGAAATGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTTCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCACCACCCCCAGCCTGGTGCCTTCTACTGGTGGTCTTATTCCCCAGCACAGCGCCTGTTGCATGAAGGGATGAATTATAGCCCCTGGGACAAGGAGGAGACTAGAGAAATGAGAAATGTCAGTGTTCTCTCAGCATCTGGGATGATAGGGAAATGAAGGTAGCACAGGGGTTTTTTGCTGCTTCTAGGAATGGCAGGCTTTTCTTTCAAGAAAACCAAACTGCTTTTCCTAAGGGAGGTAGGATGTGGGTAAGCACTTTGCCCTCTTGTCCTCACCCTGTGACACCAGGAAACAGATCTGTCTTGACGTTGGGAACTGTCATGGGCATGGAAAACCCACGTTTGGTTCCTTTTTTGTTGGCAAAAGGGCTTGATAGGGGATTGGCAAGGGAAAGAGCCCAGCGCTGACCTCTCCTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTCAGTGGCGCAATCTCAGCTCACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGAGTTTCTACTAAAACCCAGAGGACGTCAGACCCAAATCCAGAAGTTCTTCAGTTTCTGCCAAAGTGTGAGGGAAATCAACATCTGCTCCCCTTCTCCATTTCTCAGAAAAAGGTGCTGTCCCACAGGAGTCCCCTAGAAATGGCTGGAGGCTTTTCTTTTCTTTTTTTTTTTTTTTTCTGTTTCTTTTTTTTGTGAGACAGAGTCTTGCTCTGTCCTCACCTTGGGTGAGGACAAGAGGGCAAAGTGCTTACCCACAACCTACCTCCCTTAGGAAAAGCAGTTTGGTTTTCTTGAAAGAAAAGGCTGCCATTCCTAGAAGAAGCAAAACCCCCTGTGCTACCTTCATTTCCCTATCATCCCAGATGCTGAGAGAACACTGACGCTTCTTATTTCTCTAGTCTCCTTCTTGTCCCAGGGGCTAGAATTTATCCCTTCATGCATCCTGGTGAGCCACTGCGCCCAGCCTGACCTCTCCTTTAGAAGAGAGTGGTAACTAGATGAGGGAGGGAAAGTTGGGAAAGACCTAGCTCTGTTCGTGCCAGGCCAGCAACTGCAGAGAGGGGTTTTGGGGTGAGAAGGCTGTCCTTGATGACGAAGGGATGCCTTGACACCTGTTTTGATGGGGTGGGGGGTTCTCCGCAACCCCTATTTTGCCTCTAAATTTTTTAAGAAGGATACTGGGTGTTCACCAGTGTGTTTTTATTCTTTTTTAAATGGAATTCATTAATTTGACCACAGGGGAAGGGTTGATGCTGTGTACAAGTATATCTTGCACAGAGGAAGAAAGAACTAAAAGGTTTTAAAGTGGTTTTAAAGGGGCACAATTCCAAACTCAAACTGGAATTGAGCTGTGTGCAACTTTGGCACAATGAGCACTGCTGCTCAGCTGTGAAAGGAGTTTTTGAAATGTGAAATAGGAAAAGATAACTGAGAAAAAAGACTGTTGATCCTAAGGAGACTGTTTTCTCGGATTTTTAATCTTTCTTTGCCTTCACTGGTTTGGAACCGCCTTCACTGTGAATCTCTCCTGGGCAAACAGAATGTGAATTGTTGCCTTCACACAGCCCCACAAACTAGAGGACATTTTACAGGGCTAGTGTCACCCTCCCCAGTGAATTCTTGGAGCCACACAGTCTTGGTGCATAGCATGGTCTTCGGGTCTCAGTTCCCTTCCTAATCCTTAGTGTTGTGGTTTTTAAGTGGAATCAGCATCCCAGACTAAAAAGCAACATTTATAGCTCCTTGAACAAGCCACCAGGGAGGCACAAATACCTCCCTGCTGTCTATAATACACCCTTACAAATCACAAGCTGGCTGTGTGATTGTCACCCTGTTTGACCTGGGGTAAGAGGGCACAAAGGAGGAAGCAGAAGGGGAAATTAAGTCTGAACTAAACAATGCCATAATACAAAGAAATTCCAGACTGCTTTTTTATGCTCTCAACTTCCAGAGGGATCTAAGACCCTGTTAAGTGAAAACTCAGGAAATGTTGACTACATCTTTTGCAAAAGGCTGAAAGACAGAAGACAGAGTGAGGTTGCAGGACCCAAGGATTGATCCCTGGTCTTCAGCACCTTTTAACTGAAATGGGGAGGACCCAGCCAGACAGGACCTAATAGGTTACTTGGATATTTCAGATAATTTGTCCTGGGGTTGTTGCCTCTTCTCAGCGCCCGGTTTAGAGAACATATGTCTCAAGCCATAACAGTCCAAAGGGGACATTACATCCTCAAGTCTTCCATTTTCAAGTGCCTCGTCATGAGTTGGAGAAACCTGGCCCAACACTTTGCTGACTCCTGACCACATTCCAGGCTTTGCTGCTAGCATAGCAGGGAATTGCTCTTCAGTGAGATCAAAAGCCTTGTTACAGGGAGGAGTTTCACAAGGG	G55851178A	MMP19	GRCh38/hg38_12q13.2(chr12:55845043-55851177	noncoding	Pathogenic
12	56042426	CAAAG	C	G56042430A	RPS26	NM_001029.5(RPS26):c.9_12del:p.Lys4fs	coding	Pathogenic
12	56042490	CACTA	C	A56042494G	RPS26	NM_001029.5(RPS26):c.73_76del:p.Asn25fs	coding	Pathogenic
12	56042508	CG	C	G56042509T	RPS26	NM_001029.5(RPS26):c.88del:p.Val30fs	coding	Pathogenic
12	56094951	C	CA	G56094965A	ERBB3	NM_001982.4(ERBB3):c.1860-293dup	noncoding	Benign
12	56101152	AG	A	G56101156C	ERBB3	NM_001982.4(ERBB3):c.3297del:p.His1100fs	coding	Pathogenic
12	56167889	A	AACACACACACACACAC	T56167912A	SMARCC2	NM_001330288.2(SMARCC2):c.2850+149GT[19]	noncoding	Benign
12	56167889	A	AACACACACACAC	T56167912A	SMARCC2	NM_001330288.2(SMARCC2):c.2850+149GT[17]	noncoding	Benign
12	56167889	A	AACACAC	T56167912A	SMARCC2	NM_001330288.2(SMARCC2):c.2850+149GT[14]	noncoding	Benign
12	56167951	A	AACACAC	G56168000A	SMARCC2	NM_001330288.2(SMARCC2):c.2850+61GT[27]	noncoding	Benign
12	56167951	A	AACAC	G56168000A	SMARCC2	NM_001330288.2(SMARCC2):c.2850+61GT[26]	noncoding	Benign
12	56167951	A	AAC	G56168000A	SMARCC2	NM_001330288.2(SMARCC2):c.2850+61GT[25]	noncoding	Benign
12	56167951	AAC	A	A56167998G	SMARCC2	NM_001330288.2(SMARCC2):c.2850+61GT[23]	noncoding	Benign
12	56167951	AACAC	A	A56167996G	SMARCC2	NM_001330288.2(SMARCC2):c.2850+61GT[22]	noncoding	Benign
12	56167951	AACACAC	A	A56167994G	SMARCC2	NM_001330288.2(SMARCC2):c.2850+61GT[21]	noncoding	Benign
12	56170272	CTTTT	C	T56170273C	SMARCC2	NM_001330288.2(SMARCC2):c.2348-68_2348-65del	noncoding	Benign
12	56185102	G	GT	A56185104T	SMARCC2	NM_001330288.2(SMARCC2):c.326dup:p.Tyr109Ter	coding	Pathogenic/Likely_pathogenic
12	56210632	GAT	G	T56210636A	RNF41	NM_005785.4(RNF41):c.91-66_91-65del	noncoding	Benign
12	56346853	GC	G	C56346858T	STAT2	NM_005419.4(STAT2):c.1826del:p.Gly609fs	coding	Pathogenic
12	56348800	CT	C	T56348801G	STAT2	NM_005419.4(STAT2):c.1580del:p.Gln527fs	coding	Pathogenic
12	56349032	T	TG	T56349040G	STAT2	NM_005419.4(STAT2):c.1467dup:p.Lys490fs	coding	Pathogenic
12	56354571	G	GT	A56354573T	STAT2	NM_005419.4(STAT2):c.676dup:p.Thr226fs	coding	Pathogenic
12	57036750	CCT	C	C57036755T	MYO1A	NM_005379.4(MYO1A):c.2274+16AG[2]	noncoding	Benign
12	57233745	TTAGGTG	A	T57233745A	SHMT2	NM_005412.6(SHMT2):c.1124-4_1126delinsA	noncoding	Pathogenic
12	57244941	GC	G	C57244943T	STAC3	NM_145064.3(STAC3):c.694del:p.Ala232fs	coding	Pathogenic
12	57248681	T	TCCTTTCTACA	G57248686T	STAC3	NM_145064.3(STAC3):c.432+24_432+25insAAGGTGTAGA	noncoding	Benign
12	57248738	AGGACTGACAGTGTTCAT	A	C57248742T	STAC3	NM_145064.3(STAC3):c.383_399del:p.His128fs	coding	Pathogenic
12	57249535	G	GC	A57249542C	STAC3	NM_145064.3(STAC3):c.66+30dup	noncoding	Benign
12	57487850	CAA	C	A57487873G	MARS1	NM_001319850.2(ARHGAP9):c.-204+760_-204+761del	noncoding	Benign
12	57487850	CA	C	A57487874G	MARS1	NM_001319850.2(ARHGAP9):c.-204+761del	noncoding	Benign
12	57489890	AC	A	C57489891A	MARS1	NM_004990.4(MARS1):c.415-5del	noncoding	Benign
12	57512978	AG	A	G57512982T	MARS1	NM_004990.4(MARS1):c.1967+18del	noncoding	Benign
12	57515908	CTTT	C	T57515913A	MARS1	NM_004990.4(MARS1):c.2392-7_2392-5del	noncoding	Benign
12	57515953	CA	C	A57515954G	MARS1	NM_004990.4(MARS1):c.2426del:p.Gln809fs	coding	Pathogenic
12	57564440	CCTT	C	C57564444T	KIF5A	NM_004984.4(KIF5A):c.397-16_397-14del	noncoding	Benign/Likely_benign
12	57567229	AG	A	G57567233A	KIF5A	NM_004984.4(KIF5A):c.589+20del	noncoding	Benign
12	57568725	C	CA	G57568739A	KIF5A	NM_004984.4(KIF5A):c.715-225dup	noncoding	Benign
12	57569248	TC	T	C57569253A	KIF5A	NM_004984.4(KIF5A):c.820-3del	noncoding	Benign
12	57581959	G	GA	G57581965A	KIF5A	NM_004984.4(KIF5A):c.2992+12dup	noncoding	Benign
12	57582647	AC	A	C57582651T	KIF5A	NM_004984.4(KIF5A):c.3020+22del	noncoding	Benign
12	57583299	C	CT	A57583311T	KIF5A	NM_004984.4(KIF5A):c.*36+95dup	noncoding	Benign
12	57627411	TAA	T	A57627423G	B4GALNT1	NM_001478.5(B4GALNT1):c.1384+205_1384+206del	noncoding	Benign
12	57627411	TA	T	A57627424G	B4GALNT1	NM_001478.5(B4GALNT1):c.1384+206del	noncoding	Benign
12	57628697	CCTG	C	G57628700A	B4GALNT1	NM_001478.5(B4GALNT1):c.1002+13_1002+15del	noncoding	Benign
12	57629229	CTG	C	G57629233C	B4GALNT1	NM_001478.5(B4GALNT1):c.713-85_713-84del	noncoding	Benign
12	57630605	T	TAG	A57630611G	B4GALNT1	NM_001478.5(B4GALNT1):c.491-91CT[3]	noncoding	Benign
12	57631319	GC	G	C57631327A	B4GALNT1	NM_001478.5(B4GALNT1):c.263del:p.Gly88fs	coding	Pathogenic
12	57748702	T	TTTC	T57748705C	CDK4	NM_000075.4(CDK4):c.820-86_820-85insAAG	noncoding	Benign
12	57748705	T	TTTC	T57748711C	CDK4	NM_000075.4(CDK4):c.820-91_820-89dup	noncoding	Benign
12	57749141	GTC	G	C57749145A	CDK4	NM_005981.5(TSPAN31):c.*1853CT[1]	noncoding	Benign
12	57751814	C	CA	C57751815A	CDK4	NM_000075.4(CDK4):c.-19-79_-19-78insT	noncoding	Benign
12	57763729	C	CGAGCT	G57763736A	CYP27B1	NM_000785.4(CYP27B1):c.1290_1294dup:p.Arg432fs	coding	Pathogenic
12	57764135	TTGTC	T	T57764138G	CYP27B1	NM_000785.4(CYP27B1):c.1174_1177del:p.Asp392fs	coding	Pathogenic
12	57764142	G	GGACAC	G57764150C	CYP27B1	NM_000785.4(CYP27B1):c.1166_1170dup:p.Pro391fs	coding	Pathogenic
12	57765385	CCGCA	C	G57765387A	CYP27B1	NM_000785.4(CYP27B1):c.497_500del:p.Val166fs	coding	Pathogenic
12	57766130	ACGTACACGGTG	A	T57766133C	CYP27B1	NM_000785.4(CYP27B1):c.252_262del:p.Thr85fs	coding	Pathogenic
12	57766189	GCCC	CGAAG	G57766189C	CYP27B1	NM_000785.4(CYP27B1):c.201_204delinsCTTCG:p.Gln67fs	coding	Pathogenic
12	57766880	G	GCA	G57766883C	CYP27B1	NM_000785.4(CYP27B1):c.160_161dup:p.Lys55fs	coding	Pathogenic
12	57782825	CGT	C	G57782828T	TSFM	NM_005726.6(TSFM):c.27_28del:p.Phe10fs	coding	Pathogenic
12	57782833	T	TGGTC	C57782839G	TSFM	NM_005726.6(TSFM):c.34_37dup:p.Ala13fs	coding	Pathogenic/Likely_pathogenic
12	57783108	AG	A	G57783110C	TSFM	NC_000012.11:g.58176892del	noncoding	Pathogenic
12	57793018	TC	T	C57793020A	TSFM	NM_005726.6(TSFM):c.518del:p.Pro173fs	coding	Pathogenic
12	57793035	GAGAAGGCTCACTCA	G	A57793038G	TSFM	NM_005726.6(TSFM):c.536_549del:p.Glu179fs	coding	Pathogenic
12	57796187	A	AGAAAACATGATTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGTGGGAGACGGG	A57796203T	TSFM	NM_005726.6(TSFM):c.597_598insTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGTGGGAGACGGGGAAAACATGATTCTT:p.Leu199_Lys200insPhePhePhePhePhePheXaaXaaXaaXaaGluArgGluArgGluThrGlyGluGlyGluGlyAspGlyArgGlyArgGlyArgArgGluArgGluArgGluThrGlyGluGlyValGlyAspGlyGluAsnMetIleLeu	coding	Pathogenic
12	57796251	T	TA	T57796253A	TSFM	NM_005726.6(TSFM):c.647dup:p.Tyr216Ter	coding	Pathogenic
12	57796400	CCT	C	C57796405G	TSFM	NM_005726.6(TSFM):c.800_801del:p.Ser267fs	coding	Pathogenic
12	57810647	T	TA	C57810649A	AVIL	NM_006576.4(AVIL):c.559-97dup	noncoding	Benign
12	63668317	GA	G	A63668318G	DPY19L2	NM_173812.5(DPY19L2):c.76del:p.Ser26fs	coding	Pathogenic
12	63781086	CAG	C	G63781088T	RXYLT1	NM_014254.3(RXYLT1):c.239_240del:p.Arg80fs	coding	Pathogenic
12	64455939	C	CT	C64455943T	TBK1	NM_013254.4(TBK1):c.72dup:p.Arg25fs	coding	Pathogenic
12	64466738	T	TTA	T64466752A	TBK1	NM_013254.4(TBK1):c.359-162TA[7]	noncoding	Benign
12	64474211	C	CT	A64474222T	TBK1	NM_013254.4(TBK1):c.541-9dup	noncoding	Benign
12	64474211	CT	C	T64474221A	TBK1	NM_013254.4(TBK1):c.541-9del	noncoding	Benign
12	64482036	TTTC	T	C64482042G	TBK1	NM_013254.4(TBK1):c.992+21_992+23del	noncoding	Benign
12	64485948	AT	A	T64485949G	TBK1	NM_013254.4(TBK1):c.1272del:p.Cys423_Tyr424insTer	coding	Pathogenic
12	64488523	C	CA	G64488529A	TBK1	NM_013254.4(TBK1):c.1382dup:p.Thr462fs	coding	Pathogenic
12	64495926	TA	T	A64495943C	TBK1	NM_013254.4(TBK1):c.1720+168del	noncoding	Benign
12	64496384	GA	G	A64496386C	TBK1	NM_013254.4(TBK1):c.1740del:p.Glu580fs	coding	Pathogenic
12	64496956	CTG	C	G64496958A	TBK1	NM_013254.4(TBK1):c.1770_1771del:p.Tyr591fs	coding	Pathogenic
12	64497031	AAGTC	A	T64497034A	TBK1	NM_013254.4(TBK1):c.1846_1849del:p.Ser616fs	coding	Pathogenic
12	64497612	G	GGTT	T64497616G	TBK1	NM_013254.4(TBK1):c.1960-35_1960-33dup	noncoding	Benign
12	64497621	C	CT	G64497638T	TBK1	NM_013254.4(TBK1):c.1960-11dup	noncoding	Benign
12	64497621	CT	C	T64497637G	TBK1	NM_013254.4(TBK1):c.1960-11del	noncoding	Benign
12	64497657	ACT	A	C64497660G	TBK1	NM_013254.4(TBK1):c.1972_1973del:p.Leu658fs	coding	Pathogenic
12	64722008	TC	T	C64722009A	GNS	NM_002076.4(GNS):c.1309-304del	noncoding	Benign
12	64737080	C	CAAGA	T64737081A	GNS	NM_002076.4(GNS):c.1021_1022insTCTT:p.Arg341fs	coding	Pathogenic
12	64739486	GGA	G	A64739490T	GNS	NM_002076.4(GNS):c.887_888del:p.Leu296fs	coding	Pathogenic
12	64739564	C	CA	C64739579A	GNS	NM_002076.4(GNS):c.876-79dup	noncoding	Benign
12	64740603	TA	T	A64740604C	GNS	NM_002076.4(GNS):c.875+2del	noncoding	Pathogenic
12	64740639	G	GAAGAATTAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A64740651G	GNS	NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT:p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer	coding	Pathogenic
12	64740702	GA	G	A64740710T	GNS	NM_002076.4(GNS):c.793-15del	noncoding	Benign
12	64743294	CA	C	A64743296G	GNS	NM_002076.4(GNS):c.638del:p.Leu213fs	coding	Pathogenic
12	64743317	T	TA	G64743323A	GNS	NM_002076.4(GNS):c.625-10dup	noncoding	Benign
12	64744542	TC	T	C64744543T	GNS	NM_002076.4(GNS):c.624+266del	noncoding	Benign
12	64744912	TA	T	A64744917G	GNS	NM_002076.4(GNS):c.526-6del	noncoding	Benign
12	64747709	TAC	T	A64747710C	GNS	NM_002076.4(GNS):c.459+1_459+2del	noncoding	Pathogenic
12	64747784	T	TG	T64747787G	GNS	NM_002076.4(GNS):c.386dup:p.Asn130fs	coding	Pathogenic
12	64747791	TG	T	G64747793A	GNS	NM_002076.4(GNS):c.379del:p.Gln127fs	coding	Pathogenic
12	64747815	CT	C	T64747816G	GNS	NM_002076.4(GNS):c.355del:p.Ser119fs	coding	Pathogenic
12	64752729	ATGAGAGC	A	G64752731T	GNS	NM_002076.4(GNS):c.214_220del:p.Ala72fs	coding	Pathogenic
12	64759128	A	AC	A64759131C	GNS	NM_002076.4(GNS):c.148dup:p.Val50fs	coding	Pathogenic
12	64759158	AC	A	C64759162G	GNS	NM_002076.4(GNS):c.118del:p.Val40fs	coding	Pathogenic
12	64759253	TG	T	G64759257C	GNS	NM_002076.4(GNS):c.23del:p.Pro8fs	coding	Pathogenic
12	64759272	CG	C	G64759273C	GNS	NM_002076.4(GNS):c.4del:p.Arg2fs	coding	Pathogenic
12	64759540	GGGGCGGAGAACCGGAGAAAA	G	A64759595G	GNS	NM_001330187.2(TBC1D30):c.-470AGAAAAGGGCGGAGAACCGG[2]	noncoding	Benign
12	65056267	C	CT	G65056279T	WIF1	NM_007191.5(WIF1):c.827-152dup	noncoding	Benign
12	65068649	A	ATG	A65068687G	WIF1	NM_007191.5(WIF1):c.538+79CA[19]	noncoding	Benign
12	65068649	A	ATGTG	A65068687G	WIF1	NM_007191.5(WIF1):c.538+79CA[20]	noncoding	Benign
12	65068649	A	ATGTGTG	A65068687G	WIF1	NM_007191.5(WIF1):c.538+79CA[21]	noncoding	Benign
12	65068649	ATG	A	G65068685A	WIF1	NM_007191.5(WIF1):c.538+79CA[17]	noncoding	Benign
12	65068649	ATGTG	A	G65068683A	WIF1	NM_007191.5(WIF1):c.538+79CA[16]	noncoding	Benign
12	65068649	ATGTGTGTGTG	A	G65068677A	WIF1	NM_007191.5(WIF1):c.538+79CA[13]	noncoding	Benign
12	65121607	G	GC	G65121615C	WIF1	Single_allele	noncoding	Benign
12	65169905	TC	T	C65169907T	LEMD3	NM_014319.5(LEMD3):c.311del:p.Pro104fs	coding	Pathogenic
12	65170221	AC	A	C65170225G	LEMD3	NM_014319.5(LEMD3):c.629del:p.Pro210fs	coding	Pathogenic
12	65170412	C	CA	G65170414A	LEMD3	NM_014319.5(LEMD3):c.817dup:p.Arg273fs	coding	Pathogenic
12	65170500	GC	G	C65170502G	LEMD3	NM_014319.5(LEMD3):c.906del:p.Gly303fs	coding	Pathogenic
12	65170628	A	AG	T65170632G	LEMD3	NM_014319.5(LEMD3):c.1035dup:p.Cys346fs	coding	Pathogenic
12	65170629	GGG	C	G65170629C	LEMD3	NM_014319.5(LEMD3):c.1033_1035delinsC:p.Gly345fs	coding	Pathogenic
12	65215724	CT	C	T65215732A	LEMD3	NM_014319.5(LEMD3):c.1561-245del	noncoding	Benign
12	65215895	G	GT	G65215909T	LEMD3	NM_014319.5(LEMD3):c.1561-69dup	noncoding	Benign
12	65238700	ACAAAT	A	C65238701A	LEMD3	NM_014319.5(LEMD3):c.1808_1812del:p.Thr603fs	coding	Pathogenic/Likely_pathogenic
12	65240935	G	GA	G65240937A	LEMD3	NM_014319.5(LEMD3):c.2154dup:p.Ala719fs	coding	Pathogenic
12	65245835	ATTTT	A	T65245836C	LEMD3	NM_014319.5(LEMD3):c.2494-25_2494-22del	noncoding	Benign
12	65825316	C	CA	G65825318A	HMGA2	NM_003483.6(HMGA2):c.47dup:p.Gln18fs	coding	Pathogenic
12	68158261	TAA	T	A68158273G	IFNG	NM_000619.3(IFNG):c.115-4_115-3del	noncoding	Benign
12	68654351	T	TG	T68654362G	RAP1B	NM_001010942.3(RAP1B):c.324+109dup	noncoding	Benign
12	68656566	CA	C	A68656578C	RAP1B	NM_001010942.3(RAP1B):c.468+129del	noncoding	Benign
12	68656566	C	CA	C68656579A	RAP1B	NM_001010942.3(RAP1B):c.468+129dup	noncoding	Benign
12	68656981	G	GC	T68656983C	RAP1B	NM_001010942.3(RAP1B):c.469-119dup	noncoding	Benign
12	68696793	C	CT	G68696807T	NUP107	NM_020401.4(NUP107):c.449-13dup	noncoding	Benign
12	68702846	A	AT	G68702861T	NUP107	NM_020401.4(NUP107):c.729+76dup	noncoding	Benign
12	68709328	AT	A	T68709337A	NUP107	NM_020401.4(NUP107):c.801+28del	noncoding	Benign
12	68709888	C	CA	T68709900A	NUP107	NM_020401.4(NUP107):c.802-106dup	noncoding	Benign
12	68713767	ACTT	A	C68713771A	NUP107	NM_020401.4(NUP107):c.929CTT[1]:p.Ser311del	coding	Benign
12	68719444	AT	A	T68719448A	NUP107	NM_020401.4(NUP107):c.1174+17del	noncoding	Benign
12	68725843	T	TTTG	T68725846G	NUP107	NM_020401.4(NUP107):c.1576+49_1576+50insGTT	noncoding	Benign
12	68725844	T	TTG	T68725846G	NUP107	NM_020401.4(NUP107):c.1576+49_1576+50insGT	noncoding	Benign
12	68731733	GG	TT	G68731733T	NUP107	NM_020401.4(NUP107):c.1998+14_1998+15delinsTT	noncoding	Benign
12	68809191	C	CT	C68809200T	MDM2	NM_002392.6(MDM2):c.15-9dup	noncoding	Benign
12	68809191	CT	C	T68809199C	MDM2	NM_002392.6(MDM2):c.15-9del	noncoding	Benign
12	68835990	AT	A	T68835998C	MDM2	NM_002392.6(MDM2):c.840+14del	noncoding	Benign
12	69586836	GTTTTATATTTTAATATTGT	G	T69586840A	CCT2	NM_006431.3(CCT2):c.144+22_144+40del	noncoding	Benign
12	76345940	A	AT	A76345943T	BBS10	NM_024685.4(BBS10):c.2044dup:p.Met682fs	coding	Pathogenic
12	76346150	TA	T	A76346152T	BBS10	NM_024685.4(BBS10):c.1834del:p.Tyr612fs	coding	Pathogenic
12	76346169	AAT	A	A76346170T	BBS10	NM_024685.4(BBS10):c.1814_1815del:p.Asn605fs	coding	Pathogenic
12	76346427	CTG	C	G76346429T	BBS10	NM_024685.4(BBS10):c.1556_1557del:p.Thr519fs	coding	Pathogenic
12	76346442	CT	C	T76346443G	BBS10	NM_024685.4(BBS10):c.1542del:p.Asp515fs	coding	Pathogenic/Likely_pathogenic
12	76346531	G	GT	G76346535T	BBS10	NM_024685.4(BBS10):c.1453dup:p.Thr485fs	coding	Pathogenic
12	76346537	G	GT	C76346544T	BBS10	NM_024685.4(BBS10):c.1447dup:p.Thr483fs	coding	Pathogenic/Likely_pathogenic
12	76346646	TAAAA	T	A76346648G	BBS10	NM_024685.4(BBS10):c.1335_1338del:p.Tyr448fs	coding	Pathogenic
12	76346646	TAA	T	A76346650G	BBS10	NM_024685.4(BBS10):c.1337_1338del:p.Phe446fs	coding	Pathogenic/Likely_pathogenic
12	76346654	CT	C	T76346656G	BBS10	NM_024685.4(BBS10):c.1330del:p.Ser444fs	coding	Pathogenic
12	76346691	AATTT	A	T76346693G	BBS10	NM_024685.4(BBS10):c.1290_1293del:p.Asn431fs	coding	Pathogenic
12	76346800	G	GT	G76346802T	BBS10	NM_024685.4(BBS10):c.1184dup:p.His395fs	coding	Pathogenic/Likely_pathogenic
12	76346903	TCA	T	A76346907T	BBS10	NM_024685.4(BBS10):c.1080_1081del:p.Cys360_Glu361delinsTer	coding	Pathogenic
12	76347022	ATAAC	A	C76347030A	BBS10	NM_024685.4(BBS10):c.959_962del:p.Ser320fs	coding	Pathogenic/Likely_pathogenic
12	76347031	TA	T	A76347034T	BBS10	NM_024685.4(BBS10):c.953del:p.Asp317_Leu318insTer	coding	Pathogenic
12	76347494	G	GT	C76347497T	BBS10	NM_024685.4(BBS10):c.490dup:p.Thr164fs	coding	Pathogenic
12	76347517	GA	G	A76347518T	BBS10	NM_024685.4(BBS10):c.467del:p.Ile156fs	coding	Pathogenic
12	76347528	AGT	A	G76347531C	BBS10	NM_024685.4(BBS10):c.455_456del:p.His152fs	coding	Pathogenic
12	76347619	A	AT	C76347625T	BBS10	NM_024685.4(BBS10):c.365dup:p.Asn122fs	coding	Pathogenic/Likely_pathogenic
12	76347644	TG	T	G76347645A	BBS10	NM_024685.4(BBS10):c.340del:p.Gln114fs	coding	Pathogenic
12	76347670	CTT	C	T76347673C	BBS10	NM_024685.4(BBS10):c.313_314del:p.Lys105fs	coding	Pathogenic
12	76347673	TTC	T	C76347677G	BBS10	NM_024685.4(BBS10):c.310_311del:p.Glu104fs	coding	Pathogenic/Likely_pathogenic
12	76347675	CTCTG	C	C76347681G	BBS10	NM_024685.4(BBS10):c.306_309del:p.Asp102fs	coding	Pathogenic
12	76347726	TA	T	A76347729T	BBS10	NM_024685.4(BBS10):c.258del:p.Phe86fs	coding	Pathogenic
12	76347749	GT	G	T76347756G	BBS10	NM_024685.4(BBS10):c.235del:p.Thr79fs	coding	Pathogenic/Likely_pathogenic
12	76347793	C	CA	G76347800A	BBS10	NM_024685.4(BBS10):c.198-12dup	noncoding	Benign
12	76348321	GCCTTCACAGAC	G	T76348325G	BBS10	NM_024685.4(BBS10):c.27_37del:p.Ser10fs	coding	Pathogenic/Likely_pathogenic
12	76348323	C	CT	C76348326T	BBS10	NM_024685.4(BBS10):c.35dup:p.Ala13fs	coding	Pathogenic
12	76348343	C	CG	C76348344G	BBS10	NM_024685.4(BBS10):c.15_16insC:p.Ala6fs	coding	Pathogenic
12	79797299	CT	C	T79797304C	PPP1R12A	NM_002480.3(PPP1R12A):c.2187del:p.Glu730fs	coding	Pathogenic
12	80209493	TG	T	G80209494C	OTOGL	NM_001378609.3(OTOGL):c.63del:p.Leu22fs	coding	Pathogenic/Likely_pathogenic
12	80219790	C	CT	C80219805T	OTOGL	NM_001378609.3(OTOGL):c.236-10dup	noncoding	Benign
12	80220171	A	AT	G80220178T	OTOGL	NM_001378609.3(OTOGL):c.334+265dup	noncoding	Benign
12	80238872	CTA	C	A80238874G	OTOGL	NM_001378609.3(OTOGL):c.841_842del:p.Met281fs	coding	Pathogenic/Likely_pathogenic
12	80251954	A	AT	G80251962T	OTOGL	NM_001378609.3(OTOGL):c.1160-115dup	noncoding	Benign
12	80254368	ATTTAT	A	A80254382T	OTOGL	NM_001378609.3(OTOGL):c.1395-155TTTAT[2]	noncoding	Benign
12	80255023	C	CT	G80255035T	OTOGL	NM_001378609.3(OTOGL):c.1442-6dup	noncoding	Benign
12	80255023	CT	C	T80255034G	OTOGL	NM_001378609.3(OTOGL):c.1442-6del	noncoding	Benign
12	80256496	T	TCAAA	C80256524A	OTOGL	NM_001378609.3(OTOGL):c.1711+37CAAA[7]	noncoding	Benign
12	80256496	T	TCAAACAAA	C80256524A	OTOGL	NM_001378609.3(OTOGL):c.1711+37CAAA[8]	noncoding	Benign
12	80264792	A	AT	C80264801T	OTOGL	NM_001378609.3(OTOGL):c.2015-201dup	noncoding	Benign
12	80270045	GA	G	A80270058C	OTOGL	NM_001378609.3(OTOGL):c.2466-44del	noncoding	Benign
12	80296706	GTAAGT	G	A80296708G	OTOGL	NM_001378609.3(OTOGL):c.2929-119_2929-115del	noncoding	Benign
12	80318976	TTCATAGTATTAA	T	T80318980C	OTOGL	NM_001378609.3(OTOGL):c.3802+267_3802+278del	noncoding	Benign
12	80328605	C	CT	G80328616T	OTOGL	NM_001378609.3(OTOGL):c.4200-50dup	noncoding	Benign
12	80329111	TG	T	G80329112T	OTOGL	NM_001378609.3(OTOGL):c.4341del:p.Met1447fs	coding	Pathogenic/Likely_pathogenic
12	80336168	CT	C	T80336184A	OTOGL	NM_001378609.3(OTOGL):c.4600+44del	noncoding	Benign
12	80352454	G	GAAT	T80352459A	OTOGL	NM_001378609.3(OTOGL):c.5407+20_5407+22dup	noncoding	Benign
12	80355770	TG	T	G80355774A	OTOGL	NM_001378609.3(OTOGL):c.5632del:p.Glu1878fs	coding	Pathogenic
12	80355882	GA	G	A80355884C	OTOGL	NM_001378609.3(OTOGL):c.5742del:p.Glu1914fs	coding	Pathogenic
12	80356682	G	GTA	G80356696A	OTOGL	NM_001378609.3(OTOGL):c.5912-124TA[7]	noncoding	Benign
12	80356961	G	GA	T80356969A	OTOGL	NM_001378609.3(OTOGL):c.6019+54dup	noncoding	Benign
12	80358394	G	GT	A80358398T	OTOGL	NM_001378609.3(OTOGL):c.6121+48dup	noncoding	Benign
12	80358708	CTG	C	T80358711C	OTOGL	NM_001378609.3(OTOGL):c.6162_6163del:p.Ala2055fs	coding	Pathogenic
12	80366510	G	GA	T80366511A	OTOGL	NM_001378609.3(OTOGL):c.6268-64_6268-63insA	noncoding	Benign
12	80366511	T	TA	T80366512A	OTOGL	NM_001378609.3(OTOGL):c.6268-63_6268-62insA	noncoding	Benign
12	80366690	GT	G	T80366696C	OTOGL	NM_001378609.3(OTOGL):c.6331+59del	noncoding	Benign
12	80368087	G	GAA	T80368091A	OTOGL	NM_001378609.3(OTOGL):c.6511-116_6511-115dup	noncoding	Benign
12	80368383	T	TCC	A80368392C	OTOGL	NM_001378609.3(OTOGL):c.6615+81_6615+82dup	noncoding	Benign
12	80370424	CTT	C	T80370425A	OTOGL	NM_001378609.3(OTOGL):c.6616-145_6616-144del	noncoding	Benign
12	80370653	G	GGTCT	C80370661T	OTOGL	NM_001378609.3(OTOGL):c.6703_6706dup:p.Pro2236fs	coding	Pathogenic
12	80371903	TG	T	G80371904A	OTOGL	NM_001378609.3(OTOGL):c.6736-115del	noncoding	Benign
12	80371905	AAG	A	A80371906G	OTOGL	NM_001378609.3(OTOGL):c.6736-113_6736-112del	noncoding	Benign
12	80444130	T	TA	T80444131A	PTPRQ	Single_allele	noncoding	Benign
12	80444574	T	TATATG	A80444579G	PTPRQ	NM_001145026.2(PTPRQ):c.55-163_55-162insGATAT	noncoding	Benign
12	80444830	AGTGACAACAAAT	A	G80444833A	PTPRQ	NM_001145026.2(PTPRQ):c.147_158del:p.Thr51_Thr54del	coding	Benign
12	80484402	C	CT	C80484407T	PTPRQ	NM_001145026.2(PTPRQ):c.1187-27dup	noncoding	Benign
12	80494951	AT	A	T80494952A	PTPRQ	NM_001145026.2(PTPRQ):c.1560del:p.Gln519_Tyr520insTer	coding	Pathogenic
12	80495064	ACAGTTCTCAG	A	C80495065T	PTPRQ	NM_001145026.2(PTPRQ):c.1673_1682del:p.Thr558fs	coding	Pathogenic
12	80495386	T	TTTG	C80495407G	PTPRQ	NM_001145026.2(PTPRQ):c.1882+16TTG[7]	noncoding	Benign
12	80496229	A	AATGTTCTT	T80496238A	PTPRQ	NM_001145026.2(PTPRQ):c.1991-20_1991-13dup	noncoding	Benign
12	80534061	GA	G	A80534062G	PTPRQ	NM_001145026.2(PTPRQ):c.2726del:p.Glu909fs	coding	Pathogenic
12	80535226	GACAC	G	C80535244T	PTPRQ	NM_001145026.2(PTPRQ):c.2985+190AC[8]	noncoding	Benign
12	80535226	GAC	G	C80535246T	PTPRQ	NM_001145026.2(PTPRQ):c.2985+190AC[9]	noncoding	Benign
12	80542502	A	AT	G80542512T	PTPRQ	NM_001145026.2(PTPRQ):c.3721+147dup	noncoding	Benign
12	80616079	TTA	T	T80616094A	PTPRQ	NM_001145026.2(PTPRQ):c.5164-120TA[7]	noncoding	Benign
12	80616128	C	CAT	C80616144T	PTPRQ	NM_001145026.2(PTPRQ):c.5164-71AT[8]	noncoding	Benign
12	80622043	TC	T	C80622044T	PTPRQ	NM_001145026.2(PTPRQ):c.5613-17del	noncoding	Benign
12	80652856	G	GGT	T80652859G	PTPRQ	NM_001145026.2(PTPRQ):c.6115+23_6115+24dup	noncoding	Benign
12	80672868	TA	T	A80672875T	PTPRQ	NM_001145026.2(PTPRQ):c.6603-294del	noncoding	Benign
12	80678859	ACTTTTCTCTAATC	A	T80678861A	PTPRQ	NM_001145026.2(PTPRQ):c.6863-125_6863-113del	noncoding	Benign
12	85286749	A	AT	A85286757T	ALX1	NM_006982.3(ALX1):c.532-97dup	noncoding	Benign
12	88049161	GAAAC	G	C88049165G	CEP290	NM_025114.4(CEP290):c.*19_*22del	noncoding	Benign/Likely_benign
12	88049282	GT	G	T88049289A	CEP290	NM_025114.4(CEP290):c.7341del:p.Lys2447fs	coding	Pathogenic
12	88049331	G	GTAAT	T88049338A	CEP290	NM_025114.4(CEP290):c.7289_7292dup:p.Tyr2431Ter	coding	Pathogenic
12	88049334	A	ATT	A88049337T	CEP290	NM_025114.4(CEP290):c.7288_7289dup:p.Asn2430fs	coding	Pathogenic
12	88049337	A	ATACTT	A88049343T	CEP290	NM_025114.4(CEP290):c.7282_7286dup:p.Tyr2429Ter	coding	Pathogenic
12	88049340	C	CTT	A88049343T	CEP290	NM_025114.4(CEP290):c.7282_7283dup:p.Tyr2429fs	coding	Pathogenic
12	88049360	C	CA	T88049367A	CEP290	NM_025114.4(CEP290):c.7263dup:p.Glu2422Ter	coding	Pathogenic
12	88049390	C	CT	C88049397T	CEP290	NM_025114.4(CEP290):c.7233dup:p.Glu2412fs	coding	Pathogenic
12	88049390	CT	C	T88049396C	CEP290	NM_025114.4(CEP290):c.7233del:p.Glu2412fs	coding	Pathogenic
12	88050390	CTG	C	G88050394C	CEP290	NM_025114.4(CEP290):c.7171_7172del:p.Gln2391fs	coding	Pathogenic
12	88053578	CA	C	A88053594G	CEP290	NM_025114.4(CEP290):c.7129+73del	noncoding	Benign
12	88054289	A	AT	A88054300T	CEP290	NM_025114.4(CEP290):c.7034+41dup	noncoding	Benign
12	88054331	ATGATGTACC	A	G88054333A	CEP290	NM_025114.4(CEP290):c.7034_7034+8del	noncoding	Pathogenic
12	88055615	TTCTC	T	C88055621G	CEP290	NM_025114.4(CEP290):c.6917_6920del:p.Arg2306fs	coding	Pathogenic
12	88055615	T	TTC	G88055625C	CEP290	NM_025114.4(CEP290):c.6919_6920dup:p.Gln2308fs	coding	Pathogenic
12	88059897	CT	C	T88059903A	CEP290	NM_025114.4(CEP290):c.6645del:p.Glu2216fs	noncoding	Pathogenic
12	88059918	GC	G	C88059920T	CEP290	NM_025114.4(CEP290):c.6624del:p.Arg2208fs	coding	Pathogenic
12	88060005	GT	G	T88060010C	CEP290	NM_025114.4(CEP290):c.6537del:p.Lys2179fs	coding	Pathogenic
12	88060025	T	TA	C88060033A	CEP290	NM_025114.4(CEP290):c.6523-12dup	noncoding	Benign
12	88060835	A	AT	C88060841T	CEP290	NM_025114.4(CEP290):c.6516dup:p.Leu2173fs	coding	Pathogenic
12	88060864	A	AT	C88060871T	CEP290	NM_025114.4(CEP290):c.6487dup:p.Met2163fs	coding	Pathogenic
12	88060933	A	AG	C88060934G	CEP290	NM_025114.4(CEP290):c.6418_6419insC:p.Val2140fs	coding	Pathogenic
12	88063962	TA	T	A88063968C	CEP290	NM_025114.4(CEP290):c.6270+18del	noncoding	Benign/Likely_benign
12	88064089	ATGATCATC	A	T88064093C	CEP290	NM_025114.4(CEP290):c.6154_6161del:p.Asp2052fs	coding	Pathogenic
12	88064294	C	CA	G88064298A	CEP290	NM_025114.4(CEP290):c.6136-182dup	noncoding	Benign
12	88068553	TG	T	G88068554T	CEP290	NM_025114.4(CEP290):c.6103del:p.Gln2035fs	coding	Pathogenic
12	88068571	AGT	A	G88068572T	CEP290	NM_025114.4(CEP290):c.6084_6085del:p.Lys2028fs	coding	Pathogenic
12	88068577	TC	T	C88068578T	CEP290	NM_025114.4(CEP290):c.6079del:p.Glu2027fs	coding	Pathogenic
12	88071332	CT	C	T88071338A	CEP290	NM_025114.4(CEP290):c.5972del:p.Lys1991fs	coding	Pathogenic
12	88071841	TTCTC	T	C88071843T	CEP290	NM_025114.4(CEP290):c.5791_5794del:p.Glu1931fs	coding	Pathogenic
12	88071843	CTCTTT	C	C88071845A	CEP290	NM_025114.4(CEP290):c.5788_5792del:p.Lys1930fs	coding	Pathogenic
12	88071845	CT	C	T88071849A	CEP290	NM_025114.4(CEP290):c.5790del:p.Glu1931fs	coding	Pathogenic
12	88071852	CT	C	T88071854G	CEP290	NM_025114.4(CEP290):c.5783del:p.Lys1928fs	coding	Pathogenic
12	88071921	AG	A	G88071922C	CEP290	NM_025114.4(CEP290):c.5714del:p.Ala1905fs	coding	Pathogenic
12	88077702	AT	A	T88077703C	CEP290	NM_025114.4(CEP290):c.5580del:p.Leu1861fs	coding	Pathogenic
12	88079104	AGTAT	A	A88079107C	CEP290	NM_025114.4(CEP290):c.5348_5351del:p.His1783fs	coding	Pathogenic
12	88079217	CCCGA	C	C88079219T	CEP290	NM_025114.4(CEP290):c.5235_5238del:p.Ser1745fs	coding	Pathogenic
12	88079242	C	CA	T88079253A	CEP290	NM_025114.4(CEP290):c.5227-23dup	noncoding	Benign
12	88080190	GT	G	T88080193C	CEP290	NM_025114.4(CEP290):c.5217del:p.Lys1739fs	coding	Pathogenic
12	88080244	TA	T	A88080245G	CEP290	NM_025114.4(CEP290):c.5163del:p.Thr1722fs	coding	Pathogenic
12	88080264	TTTGCTTCTTTTTGAGCC	T	T88080266G	CEP290	NM_025114.4(CEP290):c.5127_5143del:p.Ala1710fs	coding	Pathogenic
12	88080268	CTTCT	C	C88080271T	CEP290	NM_025114.4(CEP290):c.5136_5139del:p.Glu1713fs	coding	Pathogenic
12	88083030	CTGTA	C	T88083031A	CEP290	NM_025114.4(CEP290):c.5009_5012del:p.Leu1670fs	noncoding	Pathogenic
12	88083040	A	AT	A88083042T	CEP290	NM_025114.4(CEP290):c.5002dup:p.Ile1668fs	coding	Pathogenic
12	88083059	CT	C	T88083063A	CEP290	NM_025114.4(CEP290):c.4983del:p.Lys1661_Val1662insTer	coding	Pathogenic
12	88083182	TA	T	A88083186T	CEP290	NM_025114.4(CEP290):c.4860del:p.Phe1620fs	coding	Pathogenic
12	88083207	AGT	A	T88083209G	CEP290	NM_025114.4(CEP290):c.4834_4835del:p.Thr1612fs	coding	Pathogenic
12	88083921	CT	C	T88083923C	CEP290	NM_025114.4(CEP290):c.4737del:p.Asp1580fs	coding	Pathogenic
12	88084321	TA	T	A88084324C	CEP290	NM_025114.4(CEP290):c.4704+264del	noncoding	Benign
12	88084633	CT	C	T88084638G	CEP290	NM_025114.4(CEP290):c.4656del:p.Glu1553fs	coding	Pathogenic
12	88084641	T	TTG	T88084643G	CEP290	NM_025114.4(CEP290):c.4648_4649insCA:p.Asn1550fs	coding	Pathogenic
12	88086053	TG	T	G88086054C	CEP290	NM_025114.4(CEP290):c.4422del:p.Thr1473_Cys1474insTer	coding	Pathogenic
12	88086429	CA	C	A88086434T	CEP290	NM_025114.4(CEP290):c.4263del:p.Phe1421fs	coding	Pathogenic
12	88087810	ACTGC	TTCATATTCAGAAATTATGTACGTTCAT	A88087810T	CEP290	NM_025114.4(CEP290):c.4160_4164delinsATGAACGTACATAATTTCTGAATATGAA:p.Ser1387_Ser1388delinsAsnGluArgThrTer	coding	Pathogenic
12	88087892	AGTTT	A	G88087893A	CEP290	NM_025114.4(CEP290):c.4078_4081del:p.Leu1359_Lys1360insTer	coding	Pathogenic
12	88087927	CAT	C	A88087930G	CEP290	NM_025114.4(CEP290):c.4045_4046del:p.Met1349fs	coding	Pathogenic
12	88089104	CA	C	A88089106T	CEP290	NM_025114.4(CEP290):c.3956del:p.Leu1319fs	coding	Pathogenic
12	88089251	TAG	T	G88089255C	CEP290	NM_025114.4(CEP290):c.3808_3809del:p.Leu1270fs	coding	Pathogenic
12	88089257	CT	C	T88089258G	CEP290	NM_025114.4(CEP290):c.3803del:p.Gln1268fs	coding	Pathogenic
12	88089299	C	CA	C88089303A	CEP290	NM_025114.4(CEP290):c.3761dup:p.Leu1254fs	coding	Pathogenic
12	88089312	TAGAG	T	A88089315C	CEP290	NM_025114.4(CEP290):c.3745_3748del:p.Leu1249fs	coding	Pathogenic
12	88089352	G	GC	A88089354C	CEP290	NM_025114.4(CEP290):c.3708dup:p.Arg1237fs	coding	Pathogenic/Likely_pathogenic
12	88089423	CTCAGT	C	C88089425G	CEP290	NM_025114.4(CEP290):c.3633_3637del:p.Gln1211_Leu1212insTer	coding	Pathogenic
12	88089495	T	TA	T88089504A	CEP290	NM_025114.4(CEP290):c.3574-16dup	noncoding	Benign
12	88090726	AC	A	C88090728T	CEP290	NM_025114.4(CEP290):c.3573+1del	noncoding	Pathogenic
12	88090806	T	TTGTCTTC	G88090816T	CEP290	NM_025114.4(CEP290):c.3488_3494dup:p.Val1166fs	coding	Pathogenic
12	88092748	CACTT	C	T88092752G	CEP290	NM_025114.4(CEP290):c.3390_3393del:p.Ser1131fs	coding	Pathogenic
12	88093793	CA	C	A88093797T	CEP290	NM_025114.4(CEP290):c.3285del:p.Phe1095fs	coding	Pathogenic
12	88093829	G	GT	A88093831T	CEP290	NM_025114.4(CEP290):c.3249dup:p.Arg1084fs	coding	Pathogenic
12	88093896	CAT	C	T88093898G	CEP290	NM_025114.4(CEP290):c.3181_3182del:p.Met1061fs	coding	Pathogenic
12	88093897	ATAGT	A	G88093900T	CEP290	NM_025114.4(CEP290):c.3178_3181del:p.Thr1060fs	coding	Pathogenic
12	88093903	AT	A	T88093911G	CEP290	NM_025114.4(CEP290):c.3175del:p.Lys1058_Ile1059insTer	coding	Pathogenic
12	88093928	C	CA	C88093930A	CEP290	NM_025114.4(CEP290):c.3150dup:p.Asp1051Ter	coding	Pathogenic
12	88096967	C	CTCCACTTGTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG	A88096983T	CEP290	NM_025114.4(CEP290):c.3023_3024insCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAACAAGTGGA:p.Glu1008delinsAspLeuTer	coding	Pathogenic
12	88102641	TTG	T	G88102659T	CEP290	NM_025114.4(CEP290):c.2991+179CA[8]	noncoding	Benign
12	88106756	TTTTC	T	T88106758A	CEP290	NM_025114.4(CEP290):c.2732_2735del:p.Arg911fs	coding	Pathogenic
12	88106859	AT	A	T88106866C	CEP290	NM_025114.4(CEP290):c.2632del:p.Ile878fs	coding	Pathogenic
12	88106896	TGA	T	A88106898C	CEP290	NM_025114.4(CEP290):c.2594_2595del:p.Leu865fs	coding	Pathogenic/Likely_pathogenic
12	88107074	TTC	T	C88107076G	CEP290	NM_025114.4(CEP290):c.2506_2507del:p.Glu836fs	coding	Pathogenic/Likely_pathogenic
12	88107084	CA	C	A88107085G	CEP290	NM_025114.4(CEP290):c.2497del:p.Trp833fs	coding	Pathogenic
12	88107106	CA	C	A88107110C	CEP290	NM_025114.4(CEP290):c.2484-9del	noncoding	Benign
12	88109115	AT	A	T88109119C	CEP290	NM_025114.4(CEP290):c.2433del:p.Lys811fs	coding	Pathogenic
12	88111346	GTCTAT	G	T88111347C	CEP290	NM_025114.4(CEP290):c.2218_2222del:p.Ile740fs	coding	Pathogenic
12	88111355	GA	G	A88111364T	CEP290	NM_025114.4(CEP290):c.2218-5del	noncoding	Benign
12	88111697	TA	T	A88111700T	CEP290	NM_025114.4(CEP290):c.2213del:p.Asn737_Leu738insTer	coding	Pathogenic
12	88115145	CTT	C	T88115147C	CEP290	NM_025114.4(CEP290):c.1860_1861del:p.Asp622fs	coding	Pathogenic
12	88115176	AT	A	T88115178C	CEP290	NM_025114.4(CEP290):c.1830del:p.Glu610fs	coding	Pathogenic
12	88116973	CA	C	A88116994T	CEP290	NM_025114.4(CEP290):c.1824+59del	noncoding	Benign
12	88117106	GA	G	A88117109T	CEP290	NM_025114.4(CEP290):c.1750del:p.Ser584fs	coding	Pathogenic
12	88118518	AT	A	T88118521G	CEP290	NM_025114.4(CEP290):c.1675del:p.Met559fs	coding	Pathogenic
12	88118525	GA	G	A88118527T	CEP290	NM_025114.4(CEP290):c.1668del:p.Arg557fs	coding	Pathogenic
12	88118715	T	TA	T88118719A	CEP290	NM_025114.4(CEP290):c.1550dup:p.Leu517fs	coding	Pathogenic
12	88120235	AT	A	T88120237C	CEP290	NM_025114.4(CEP290):c.1400del:p.Asn467fs	coding	Pathogenic
12	88121008	C	CT	A88121013T	CEP290	NM_025114.4(CEP290):c.1347dup:p.Asp450fs	coding	Pathogenic/Likely_pathogenic
12	88121091	TCTTTA	T	C88121092G	CEP290	NM_025114.4(CEP290):c.1260_1264del:p.Lys421fs	coding	Pathogenic
12	88121097	G	GT	C88121102T	CEP290	NM_025114.4(CEP290):c.1258dup:p.Thr420fs	coding	Pathogenic
12	88121100	TTC	T	C88121104T	CEP290	NM_025114.4(CEP290):c.1254_1255del:p.Lys419fs	coding	Pathogenic
12	88121130	AT	A	T88121134C	CEP290	NM_025114.4(CEP290):c.1225del:p.Ile409fs	coding	Pathogenic
12	88126425	GA	G	A88126427G	CEP290	NM_025114.4(CEP290):c.955del:p.Ser319fs	coding	Pathogenic
12	88128934	G	GA	T88128943A	CEP290	NM_025114.4(CEP290):c.942+4dup	noncoding	Benign
12	88129159	C	CTTA	A88129164T	CEP290	NM_025114.4(CEP290):c.853-127_853-125dup	noncoding	Benign
12	88129700	TTGA	T	G88129702A	CEP290	NM_025114.4(CEP290):c.843_845del:p.Tyr281_Gln282delinsTer	coding	Pathogenic
12	88129807	CAG	C	G88129809C	CEP290	NM_025114.4(CEP290):c.737_738del:p.Ser246fs	coding	Pathogenic
12	88129810	ACT	A	C88129813T	CEP290	NM_025114.4(CEP290):c.734_735del:p.Glu245fs	coding	Pathogenic/Likely_pathogenic
12	88129865	TTC	T	C88129867G	CEP290	NM_025114.4(CEP290):c.679_680del:p.Glu227fs	coding	Pathogenic
12	88130261	AT	A	T88130265A	CEP290	NM_025114.4(CEP290):c.669+6del	noncoding	Benign
12	88130272	AT	A	T88130275C	CEP290	NM_025114.4(CEP290):c.664del:p.Ile222fs	coding	Pathogenic
12	88130288	GGATAAGCTCATAGTTTTTTTTAGACAACTGTGATCGGTAGTCACTGTCTTCC	G	G88130289C	CEP290	NM_025114.4(CEP290):c.597_648del:p.Glu200fs	coding	Pathogenic
12	88130352	TAA	T	A88130355G	CEP290	NM_025114.4(CEP290):c.583_584del:p.Leu195fs	coding	Pathogenic
12	88130352	TA	T	A88130356G	CEP290	NM_025114.4(CEP290):c.584del:p.Leu195fs	coding	Pathogenic
12	88131271	AT	A	T88131285G	CEP290	NM_025114.4(CEP290):c.442-54del	noncoding	Benign
12	88136702	CT	C	T88136707G	CEP290	NM_025114.4(CEP290):c.381del:p.Asp128fs	coding	Pathogenic
12	88136714	AT	A	T88136716G	CEP290	NM_025114.4(CEP290):c.369del:p.Gln123fs	coding	Pathogenic/Likely_pathogenic
12	88136929	CT	C	T88136941A	CEP290	NM_025114.4(CEP290):c.298-144del	noncoding	Benign
12	88139143	AC	A	C88139145T	CEP290	NM_025114.4(CEP290):c.297+1del	noncoding	Pathogenic
12	88139161	AGTTTCAT	A	G88139162T	CEP290	NM_025114.4(CEP290):c.274_280del:p.Met92fs	coding	Pathogenic
12	88139165	TCATTA	T	A88139167T	CEP290	NM_025114.4(CEP290):c.272_276del:p.Val91fs	coding	Pathogenic
12	88139182	AATTG	A	G88139186T	CEP290	NM_025114.4(CEP290):c.256_259del:p.Asn85_Gln86insTer	coding	Pathogenic
12	88139187	A	AT	C88139192T	CEP290	NM_025114.4(CEP290):c.254dup:p.Asn85fs	coding	Pathogenic
12	88139201	TA	T	A88139210G	CEP290	NM_025114.4(CEP290):c.251-11del	noncoding	Benign
12	88139573	TA	T	A88139580G	CEP290	NM_025114.4(CEP290):c.181-10del	noncoding	Benign
12	88140968	C	CT	G88140970T	CEP290	NM_025114.4(CEP290):c.167dup:p.Ser57fs	coding	Pathogenic
12	88140991	TCA	T	C88140994T	CEP290	NM_025114.4(CEP290):c.143_144del:p.Val48fs	coding	Pathogenic
12	88140999	TCTTG	T	G88141003T	CEP290	NM_025114.4(CEP290):c.133_136del:p.Gln45fs	coding	Pathogenic
12	88141521	C	CA	G88141523A	CEP290	NM_025114.4(CEP290):c.-27-188dup	noncoding	Benign
12	88154406	AT	A	T88154415A	TMTC3	NM_181783.4(TMTC3):c.508+28del	noncoding	Benign
12	88172581	C	CT	G88172593T	TMTC3	NM_181783.4(TMTC3):c.1051-5dup	noncoding	Benign
12	88172581	CT	C	T88172592G	TMTC3	NM_181783.4(TMTC3):c.1051-5del	noncoding	Benign
12	88515586	CAT	C	T88515588A	KITLG	NM_000899.5(KITLG):c.550_551del:p.Met184fs	coding	Pathogenic
12	88532513	CA	C	A88532524T	KITLG	NM_000899.5(KITLG):c.130-11del	noncoding	Benign
12	89459610	CA	C	A89459627C	POC1B	NM_172240.3(POC1B):c.1113+27del	noncoding	Benign
12	89459610	C	CAA	C89459628A	POC1B	NM_172240.3(POC1B):c.1113+11_1113+12dup	noncoding	Benign
12	89459610	C	CA	C89459628A	POC1B	NM_172240.3(POC1B):c.1113+11dup	noncoding	Benign
12	89459670	CAG	C	A89459671G	POC1B	NM_172240.3(POC1B):c.1079_1080del:p.Pro360fs	coding	Pathogenic
12	89459689	CA	C	A89459692T	POC1B	NM_172240.3(POC1B):c.1061del:p.Leu354fs	coding	Pathogenic
12	89459732	TA	T	A89459741T	POC1B	NM_172240.3(POC1B):c.1033-15del	noncoding	Benign
12	89470492	GA	G	A89470494C	POC1B	NM_172240.3(POC1B):c.678del:p.His227fs	coding	Pathogenic
12	89471714	CA	C	A89471715C	POC1B	NM_172240.3(POC1B):c.575del:p.Val192fs	coding	Pathogenic
12	89471768	C	CT	G89471785T	POC1B	NM_172240.3(POC1B):c.561-55dup	noncoding	Benign
12	89471768	C	CTTT	G89471785T	POC1B	NM_172240.3(POC1B):c.561-55_561-53dup	noncoding	Benign
12	89471768	CT	C	T89471784G	POC1B	NM_172240.3(POC1B):c.561-40del	noncoding	Benign
12	89472277	TAGAAAGAAGA	T	A89472288T	POC1B	NM_172240.3(POC1B):c.453-12_453-3del	noncoding	Benign
12	89491970	AG	A	G89491972A	POC1B	NM_172240.3(POC1B):c.417del:p.Leu140fs	coding	Pathogenic
12	89497195	GT	G	T89497197C	POC1B	NM_172240.3(POC1B):c.247del:p.Thr83fs	coding	Pathogenic
12	89497298	GC	G	C89497299T	POC1B	NM_172240.3(POC1B):c.144del:p.Lys48fs	coding	Pathogenic
12	89525853	ACC	A	C89525860A	POC1B	NM_172240.3(POC1B):c.15+26_15+27del	noncoding	Benign
12	91109269	C	CTT	C91109270T	LUM	NM_002345.4(LUM):c.-21-270_-21-269insAA	noncoding	Benign
12	93678822	GGGTGCAGA	G	G93678826A	CRADD	NM_003805.5(CRADD):c.52_59del:p.Ala18fs	coding	Pathogenic
12	94308506	CA	C	A94308517T	CEP83	NM_016122.3(CEP83):c.*306del	noncoding	Benign
12	94308911	GT	G	T94308913C	CEP83	NM_016122.3(CEP83):c.2007del:p.Glu669fs	coding	Pathogenic
12	94310394	A	AC	A94310400C	CEP83	NM_016122.3(CEP83):c.1812-292dup	noncoding	Benign
12	94313269	CA	C	A94313279T	CEP83	NM_016122.3(CEP83):c.1708-253del	noncoding	Benign
12	94333500	GCTTTTTCAGCTTGGCTT	G	T94333503A	CEP83	NM_016122.3(CEP83):c.1542_1558del:p.Arg514fs	coding	Pathogenic
12	94333593	TCTGA	T	A94333597T	CEP83	NM_016122.3(CEP83):c.1462_1465del:p.Ser488fs	coding	Pathogenic
12	94367821	ATCTCT	A	C94367825G	CEP83	NM_016122.3(CEP83):c.1311_1315del:p.Glu437fs	coding	Pathogenic
12	94368186	TTGTC	T	T94368189A	CEP83	NM_016122.3(CEP83):c.1060_1063del:p.Asp354fs	coding	Pathogenic
12	94378985	GA	G	A94378986T	CEP83	NM_016122.3(CEP83):c.606del:p.Leu203fs	coding	Pathogenic
12	94400631	CA	C	A94400635T	CEP83	NM_016122.3(CEP83):c.549+218del	noncoding	Benign
12	94401245	T	TA	G94401249A	CEP83	NM_016122.3(CEP83):c.418-267dup	noncoding	Benign
12	94412693	C	CT	G94412710T	CEP83	NM_016122.3(CEP83):c.-101-118dup	noncoding	Benign
12	94412693	CT	C	T94412709G	CEP83	NM_016122.3(CEP83):c.-101-103del	noncoding	Benign
12	94971482	CT	C	T94971485C	NDUFA12	NM_018838.5(NDUFA12):c.395del:p.Lys132fs	coding	Pathogenic
12	95003597	GA	G	A95003604C	NDUFA12	NM_018838.5(NDUFA12):c.83del:p.Phe28fs	coding	Pathogenic
12	98532652	TTG	T	G98532654T	TMPO	NM_001032283.3(TMPO):c.565+816_565+817del	noncoding	Benign
12	98544638	G	GT	A98544651T	TMPO	NM_001032283.3(TMPO):c.879+113dup	noncoding	Benign
12	98544638	G	GTT	A98544651T	TMPO	NM_001032283.3(TMPO):c.879+112_879+113dup	noncoding	Benign
12	98544638	GT	G	T98544650A	TMPO	NM_001032283.3(TMPO):c.879+113del	noncoding	Benign
12	98545129	G	GT	G98545148T	TMPO	NM_001032283.3(TMPO):c.990+86dup	noncoding	Benign
12	98545129	G	GTTT	G98545148T	TMPO	NM_001032283.3(TMPO):c.990+84_990+86dup	noncoding	Benign
12	98545129	GT	G	T98545147G	TMPO	NM_001032283.3(TMPO):c.990+86del	noncoding	Benign
12	98545133	T	TG	T98545134G	TMPO	NM_001032283.3(TMPO):c.990+72_990+73insG	noncoding	Benign
12	98595515	T	TA	C98595517A	SLC25A3	NM_005888.4(SLC25A3):c.241dup:p.Thr81fs	coding	Pathogenic
12	98598064	TC	T	C98598066G	SLC25A3	NM_002635.4(SLC25A3):c.459+31del	noncoding	Benign
12	98601292	G	GT	C98601300T	SLC25A3	NM_002635.4(SLC25A3):c.925+18dup	noncoding	Benign
12	100393361	T	TC	A100393367C	SLC17A8	NM_139319.3(SLC17A8):c.474-3dup	noncoding	Benign
12	100396356	G	GA	T100396358A	SLC17A8	NM_139319.3(SLC17A8):c.616dup:p.Met206fs	coding	Pathogenic
12	100412633	T	TA	C100412644A	SLC17A8	NM_139319.3(SLC17A8):c.1187-127dup	noncoding	Benign
12	100510607	TTA	T	T100510634C	NR1H4	NM_001206979.2(NR1H4):c.80-170TA[13]	noncoding	Benign
12	100510669	AT	A	T100510670G	NR1H4	NM_001206979.2(NR1H4):c.80-108del	noncoding	Benign
12	101614323	TGTGAGA	T	T101614325A	MYBPC1	NM_002465.4(MYBPC1):c.26-171_26-166del	noncoding	Benign
12	101614438	AG	A	G101614439C	MYBPC1	NM_002465.4(MYBPC1):c.26-57del	noncoding	Benign
12	101648189	C	CA	T101648197A	MYBPC1	NM_002465.4(MYBPC1):c.1196+46dup	noncoding	Benign
12	101649207	A	AT	C101649213T	MYBPC1	NM_002465.4(MYBPC1):c.1197-48dup	noncoding	Benign
12	101652525	C	CCT	T101652546C	MYBPC1	NM_002465.4(MYBPC1):c.1527-152CT[11]	noncoding	Benign
12	101652525	CCT	C	C101652544T	MYBPC1	NM_002465.4(MYBPC1):c.1527-152CT[9]	noncoding	Benign
12	101653490	G	GA	G101653496A	MYBPC1	NM_002465.4(MYBPC1):c.1767+247dup	noncoding	Benign
12	101660131	T	TG	T101660133G	MYBPC1	NM_002465.4(MYBPC1):c.1927+301dup	noncoding	Benign
12	101666890	T	TACAC	T101666894C	MYBPC1	NM_002465.4(MYBPC1):c.2357-839_2357-838insCACA	noncoding	Benign
12	101666892	CAT	C	T101666894C	MYBPC1	NM_002465.4(MYBPC1):c.2357-838_2357-837del	noncoding	Benign
12	101666928	CAT	C	T101666930C	MYBPC1	NM_002465.4(MYBPC1):c.2357-802_2357-801del	noncoding	Benign
12	101666930	T	TAC	T101666944C	MYBPC1	NM_002465.4(MYBPC1):c.2357-801AC[7]	noncoding	Benign
12	101668015	GTTAATGCT	G	T101668025C	MYBPC1	NM_002465.4(MYBPC1):c.2524+126_2524+133del	noncoding	Benign
12	101670123	C	CCACACACA	T101670156C	MYBPC1	NM_002465.4(MYBPC1):c.2525-197CA[20]	noncoding	Benign
12	101670123	C	CCACACA	T101670156C	MYBPC1	NM_002465.4(MYBPC1):c.2525-197CA[19]	noncoding	Benign
12	101670123	C	CCACA	T101670156C	MYBPC1	NM_002465.4(MYBPC1):c.2525-197CA[18]	noncoding	Benign
12	101670123	C	CCA	T101670156C	MYBPC1	NM_002465.4(MYBPC1):c.2525-197CA[17]	noncoding	Benign
12	101685811	G	GA	G101685828A	MYBPC1	NM_002465.4(MYBPC1):c.*265dup	noncoding	Benign
12	101729122	AT	A	T101729131G	SYCP3	NM_001177949.2(SYCP3):c.643del:p.Ile215fs	coding	Pathogenic
12	101737312	TAA	T	A101737328G	SYCP3	NM_001177949.2(SYCP3):c.134-16_134-15del	noncoding	Benign
12	101737312	TA	T	A101737329G	SYCP3	NM_001177949.2(SYCP3):c.134-15del	noncoding	Benign
12	101749140	TG	T	G101749141T	GNPTAB	NM_024312.5(GNPTAB):c.3653del:p.Thr1218fs	coding	Pathogenic
12	101757300	TG	T	G101757301A	GNPTAB	NM_024312.5(GNPTAB):c.3345del:p.Met1116fs	coding	Pathogenic
12	101757605	ATT	A	T101757608G	GNPTAB	NM_024312.5(GNPTAB):c.3300_3301del:p.Lys1100fs	coding	Pathogenic
12	101760292	C	CCT	T101760293C	GNPTAB	NM_024312.5(GNPTAB):c.3136-150_3136-149insAG	noncoding	Benign
12	101761161	GC	G	C101761163A	GNPTAB	NM_024312.5(GNPTAB):c.3100del:p.Ala1034fs	coding	Pathogenic
12	101761278	AAGGC	A	G101761280A	GNPTAB	NM_024312.5(GNPTAB):c.2980_2983del:p.Ala994fs	coding	Pathogenic
12	101761338	TC	T	C101761339A	GNPTAB	NM_024312.5(GNPTAB):c.2923del:p.Glu975fs	coding	Pathogenic
12	101761609	ATG	A	T101761612A	GNPTAB	NM_024312.5(GNPTAB):c.2868_2869del:p.Met957fs	coding	Pathogenic
12	101761740	TTG	T	G101761744C	GNPTAB	NM_024312.5(GNPTAB):c.2737_2738del:p.Gln913fs	coding	Pathogenic
12	101764241	CA	C	A101764246G	GNPTAB	NM_024312.5(GNPTAB):c.2675del:p.Leu892fs	coding	Pathogenic
12	101764256	ACTAT	A	A101764259G	GNPTAB	NM_024312.5(GNPTAB):c.2657_2660del:p.Asp886fs	coding	Pathogenic
12	101764261	CTG	C	G101764265A	GNPTAB	NM_024312.5(GNPTAB):c.2654_2655del:p.Thr885fs	coding	Pathogenic
12	101764299	G	GT	A101764301T	GNPTAB	NM_024312.5(GNPTAB):c.2617dup:p.Thr873fs	coding	Pathogenic/Likely_pathogenic
12	101764326	T	TC	T101764329C	GNPTAB	NM_024312.5(GNPTAB):c.2590dup:p.Glu864fs	coding	Pathogenic
12	101764362	ATTTTC	A	C101764372G	GNPTAB	NM_024312.5(GNPTAB):c.2550_2554del:p.Lys850fs	coding	Pathogenic/Likely_pathogenic
12	101764493	CA	C	A101764494G	GNPTAB	NM_024312.5(GNPTAB):c.2423del:p.Leu808fs	coding	Pathogenic
12	101764566	CT	C	T101764569C	GNPTAB	NM_024312.5(GNPTAB):c.2350del:p.Arg784fs	coding	Pathogenic
12	101764578	CCTAAG	C	A101764581G	GNPTAB	NM_024312.5(GNPTAB):c.2334_2338del:p.Ser778fs	coding	Pathogenic
12	101764610	CTGTT	C	G101764612T	GNPTAB	NM_024312.5(GNPTAB):c.2303_2306del:p.Lys768fs	coding	Pathogenic
12	101764699	GAA	G	A101764701T	GNPTAB	NM_024312.5(GNPTAB):c.2216_2217del:p.Phe739fs	coding	Pathogenic
12	101764818	A	AT	A101764820T	GNPTAB	NM_024312.5(GNPTAB):c.2098dup:p.Ile700fs	coding	Pathogenic
12	101764859	TGTTGA	T	G101764863A	GNPTAB	NM_024312.5(GNPTAB):c.2053_2057del:p.Ser685fs	coding	Pathogenic/Likely_pathogenic
12	101764939	GA	G	A101764941G	GNPTAB	NM_024312.5(GNPTAB):c.1977del:p.Pro660fs	coding	Pathogenic
12	101764980	T	TG	C101764984G	GNPTAB	NM_024312.5(GNPTAB):c.1936dup:p.Gln646fs	coding	Pathogenic
12	101765010	CT	C	T101765012G	GNPTAB	NM_024312.5(GNPTAB):c.1906del:p.Arg636fs	coding	Pathogenic
12	101765045	CT	C	T101765046C	GNPTAB	NM_024312.5(GNPTAB):c.1871del:p.Glu624fs	coding	Pathogenic
12	101765085	AT	A	T101765087G	GNPTAB	NM_024312.5(GNPTAB):c.1831del:p.Ile611fs	coding	Pathogenic
12	101765865	CAAACA	C	A101765886C	GNPTAB	NM_024312.5(GNPTAB):c.1612+201TGTTT[4]	noncoding	Benign
12	101766181	C	CCTGATTACAGTAAGAGACA	T101766204A	GNPTAB	NM_024312.5(GNPTAB):c.1503_1521dup:p.Gly508delinsCysLeuLeuLeuTer	coding	Pathogenic
12	101766203	GT	G	T101766206A	GNPTAB	NM_024312.5(GNPTAB):c.1499del:p.Asn500fs	coding	Pathogenic
12	101766211	CT	C	T101766212C	GNPTAB	NM_024312.5(GNPTAB):c.1491del:p.Gly498fs	coding	Pathogenic
12	101766235	CA	C	A101766237C	GNPTAB	NM_024312.5(GNPTAB):c.1467del:p.Gly490fs	coding	Pathogenic
12	101770182	G	GA	C101770188A	GNPTAB	NM_024312.5(GNPTAB):c.1122dup:p.Arg375fs	coding	Pathogenic
12	101770196	TAAC	T	C101770205A	GNPTAB	NM_024312.5(GNPTAB):c.1114-14GTT[2]	noncoding	Benign
12	101770498	G	GTGCA	C101770506A	GNPTAB	NM_024312.5(GNPTAB):c.1017_1020dup:p.Pro341fs	coding	Pathogenic/Likely_pathogenic
12	101770590	G	GA	C101770596A	GNPTAB	NM_024312.5(GNPTAB):c.934-10dup	noncoding	Benign
12	101780271	CTTCT	C	C101780274A	GNPTAB	NM_024312.5(GNPTAB):c.648_651del:p.Glu217fs	coding	Pathogenic/Likely_pathogenic
12	101786064	TG	T	G101786066T	GNPTAB	NM_024312.5(GNPTAB):c.518del:p.Pro173fs	coding	Pathogenic
12	101786141	TG	T	G101786143C	GNPTAB	NM_024312.5(GNPTAB):c.441del:p.Asn148fs	coding	Pathogenic/Likely_pathogenic
12	101788450	AAC	A	C101788454A	GNPTAB	NM_024312.5(GNPTAB):c.365+96_365+97del	noncoding	Benign
12	101789917	GA	G	A101789927T	GNPTAB	NM_024312.5(GNPTAB):c.323+20del	noncoding	Benign
12	101789991	CA	C	A101789992G	GNPTAB	NM_024312.5(GNPTAB):c.269del:p.Leu90fs	coding	Pathogenic
12	101796662	CA	C	A101796666T	GNPTAB	NM_024312.5(GNPTAB):c.203+14del	noncoding	Benign
12	101796700	AAT	A	A101796703T	GNPTAB	NM_024312.5(GNPTAB):c.178_179del:p.Ile60fs	coding	Pathogenic
12	101830586	GGT	G	T101830588A	GNPTAB	NM_024312.5(GNPTAB):c.88_89del:p.Thr30fs	coding	Pathogenic
12	101830643	A	ATAGG	C101830649A	GNPTAB	NM_024312.5(GNPTAB):c.29_32dup:p.Thr12fs	coding	Pathogenic
12	102118359	TAACCTGA	T	C102118363G	NUP37	NM_024057.4(NUP37):c.153_156+3del	noncoding	Pathogenic
12	102480344	TTAAA	T	A102480348T	IGF1	NM_000618.5(IGF1):c.34_37del:p.Phe12fs	coding	Pathogenic
12	102840236	TG	T	G102840237T	PAH	NM_000277.3(PAH):c.1315+163del	noncoding	Benign
12	102843678	TG	T	G102843679C	PAH	NM_000277.3(PAH):c.1166del:p.Ala389fs	coding	Pathogenic
12	102843680	CCA	C	A102843682G	PAH	NM_000277.3(PAH):c.1163_1164del:p.Val388fs	coding	Pathogenic
12	102843717	AT	A	T102843721G	PAH	NM_000277.3(PAH):c.1127del:p.Asn376fs	coding	Pathogenic
12	102843726	GGC	G	G102843727T	PAH	NM_000277.3(PAH):c.1117_1118del:p.Ala373fs	coding	Pathogenic
12	102844344	CA	C	A102844345C	PAH	NM_000277.3(PAH):c.1056del:p.Glu353fs	coding	Pathogenic
12	102844347	CAAAGGATGACA	C	A102844348G	PAH	NM_000277.3(PAH):c.1043_1053del:p.Leu348fs	coding	Pathogenic
12	102846922	AG	A	G102846924T	PAH	NM_000277.3(PAH):c.941del:p.Pro314fs	coding	Pathogenic
12	102846928	AC	A	C102846931A	PAH	NM_000277.3(PAH):c.935del:p.Gly312fs	coding	Pathogenic
12	102846943	GC	G	C102846945A	PAH	NM_000277.3(PAH):c.920del:p.Gly307fs	coding	Pathogenic
12	102851252	AGCATTGGATTCTTGGCAAATGTCACCTCACTTAATTCAAGCATATACACAAATAACTGCCTGACAAGGTAGAAAGTTGCAACAGCCCTGAAAAGGTAAGGGGAATGTACTAAGAGATTGGAAGAAGGTGAGGTAGTTCCTGCATGGGAATCAGGGAGGCTTTCATGGATGAAAGGCTCTAGCAGGAAAAATGAGATTAGTACACTGAAGAACACACATATGATTCAGAGGATGAGTGATTCACCAACCCCATGCTTGATCTCCGAAATGGGTATTTAGCTTCCCAGAACCACACACCCATTTCAGGTGGGATCATAGAACTGTACCTGGTTTCCGCTCTTGCAGAGGGCATGAGGACCCCTCCCTGGGCTCAACTCATTTGAGAAATTCAGGTCACAGACCTATAACTAGAAGGCTAAAAAATCCATTCCTTACCTGGGAAAACTGGGCAAAGCTGCGATCTGAAAACAAGGGCACATGTCCCAACAGCTCATGGCAGATGTCACTGAAAGACAGAAAGCACAGAGAGCTCGGAGGGGAGGAGGTTTAAGCCAAGCCAGACTCAGTCTTTCTACATGAGGAATGGGCAGAAAGAATGGAAATAACTCTTTTAGGCTTATGATCCCTCTCCCAGGAATAAGTGATATGCAGAGGTTGGGATCATAAAAGGCAGGGTACAAGGTAAAAAGAAGAAAAGGAAGGAAAAATAAGAGACAGGTGCAGGGTAGGGCACAGCAGCCAAGGGTCTTAAGAGTATCCCCAGTGGGGTACCAGGCAGAAGAGCTAATATTCCTGTGGACATGCTCCCATATACCTAAGTGAGCTATGAGTCATGAACACTTCTCATCCTGTCTTCTCCCTGGTATTGACTTCCCTGGGCAGATACAATATGCTCAGCTATTCCACTGGGAACTAAAACAAAAACAGTGCTGCTCTTCTGTTAGTCTGGAGGTGGACAGCAGTGAGGGAAGAAAACCTACATTTATTTAACACTGTATGTGCTATGTCCATTTGGAACAGGTCTTTTTGGATTTGTAGCAATGAACTTTATGGGCAAGGAAAAACAATTTTGGATGTTCCATTAATTTTTTTATAAGTTGCATAAGTTTTATCAGACTAAGGGGATAACGAAACACCCAAGTAAGAAGCATAATGGCTGCAATTCTCTACCTCTACCCAATACACAATCTAGGCAAAGAAAGATAAGAGTAATCTAGATGTATACTTAGGAAGTATTGAGATAGCTTGGCTGCCACTTGTTCCTGTTCTCATTTGCAACTTCGTAGCTTTGACTTTGGAACTTGATTGGGATCTCTCATTCTCACTGCCAAGGGAGTTCTGAGTTATTGGATCACAGGATGACCAAATCTCCAATCAGTCTGGTCTATCTACTTGGATGGAGCAAATCTCCAGAATAGATGAATTGTTTTTAGTACTACCAGCAAACAGTCTAGACAACTAGTCCTGTGGACCAGCCAGCAATGAACCCAAACCTCATTCTTGCAGCAGGAAAAGATGGCGCTCATTGTGCCTGGCAACTGGTAGCTGGAGGACAGTACTCACGGTTCGGGGGTATACATGGGCTTGGATCCATGTCTGATGTACTGTGTGCAGTGGAAGACTCGGAAGGCCAGGCCACCCAAGAAATCCCGAGAGGAAAGCAGGCCAGCCACAGGTCGGAGGCGGAAACCAGTGCAAGCTGGGATGAAAAGAAGAAAGAAAACTCAAAGCTCATCACCACTGAGTCAGAGGCACTAGGAGACCTTTAGGTAGTGGAGTAGTACACATAACTGCCCAGGGACATAGGCTTTGACGCTAGGCAGACTTGGCTTCAGATGTCTGCCTCGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAGGGGTAAAATATTAGCAAGTCCATTTGTGTGCATATCTATATCACATTCTCTAAATCGCTCAATTTTAAAGCTGACCTCTGATCACCATCTCTATGGTTCCTGTATCTGTCTCTCAGTTTGTTGCAAACTTTGGAGGATAAGGATAGTGACAGTGATAATGGTAATAATAGCTAACACTATATTTGACCTACTGTATGTAAGACACTGTTTTAAGCTACTTTAGATATGCTACTAATCCCCACAATAGCCCTATGAAGTAGACACTTTTATTATGCCCACTTTACCGATGGGAAAGCTGAGACAGAGATAGGTTAAAGGTTTTATTCAAGGTCACAGCCACAGGCAGTCTAGCTTCAAAGTCTGTTCTCTTAATTACTATTATGTAGCTTCCCAACTGCTAGTATTACTGTTTTATTATTCTTATTATTGGCCATGGCAATGGAAGTAATTAGCTAAAGAAGTCTTTGAGATCCCCTTGCCTCTTGCCCCCATGTTCTCTGTGTCTTCAGGCTGAAGCACACTCTGCTTGGACCCTTACTCCCTTCTTTATCTAAGAAGCAAAGACTTTCTAATGGAAGGGACCCAAAAGGTCATCTAACTCACCCCCAAACTGTCCTGGCTACAACTTCCCTTCCTGCCAAGTAATTTCCCTGGCTCATTGCCCCCACAGTGGCCCATCTCTGCACAGCTCTGATATATAGAAAATTTTGTAACCTGTAGTCTGTCTCCCCACTTCTGCTTATTCTACCTGGCACACAGTAGGTGTTCAATATGTGCTAGTTCATTATTTTGTTTTTGCTAAATTAACATCCTCTTGACAGAAAGAGTAACACCCATTTCACCTGGATATACTGTACAGAGAGGCTTGCGACTCAATGTACTTACCTATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCTTTTCTTCCTCCATGTATTCCACTCGAGGGATGGGCTGCCCACTAGAATACAGGCACAAAATAGGTGTCTCAAGCAGGGCAGGGGCACAGCAGAACGCAGGTTAGGTTAGCAGAGGGAGTCGGGGACCAGAACCTGTGAGCTGCCATCACTTGCTACAGTGAATTTCATACATTATTTGAAAGAGAAAAATTCCACATCTTGATATAGGAAACATTGTTGTTTTGATTTCCCACATGAAAGGGTGATTTGGTTAAGCAGTGATACAGGCTACAATGAGGATTTGCTCTCACTTTCGGGAAATCACTTGGTTTTTCTACTCTTCTAATTCTCTAATTGCTTACCTGGGGTAGAAATTCACTTACCTGCACGGGCCAGTCAGGTATCACAAAGCTGTAAAGTTGCAGAGATTGGCAATAAGGAGAATGGGGGCTGGCAGGAGAATATATTCCCTTTCTAAACCAGGGCATCTAAGTTAAAGCAACACAGTGTATTTTTATGGTGTTAGCTAAAGCAATTAAACCAGTGGGCTAAACTGGATTTAATATGTAGGCCACGAATCTGAGATCCCCTTTGTTTGGTAGGCATGCACTTATTGGGTTTGATATTTCTGCTCCTGGGAAGTTATAAAGGTATTTAAATACATACTAATTAAGATTCCACATTGTATACATATATCAAAACATCATGTTGTACACCATATTTTATATACAATTATATAATTATATACAATTATATAATTGTATATAATTAAAAATTATATACAATTTTTATTTGTC	A	G102851253A	PAH	NM_000277.3(PAH):c.510-735_912+434del	noncoding	Pathogenic
12	102852902	CGA	C	A102852906G	PAH	NM_000277.3(PAH):c.753_754del:p.Arg252fs	coding	Pathogenic
12	102852903	GA	G	A102852904G	PAH	NM_000277.3(PAH):c.753del:p.Arg252fs	coding	Pathogenic
12	102852911	AG	A	G102852912C	PAH	NM_000277.3(PAH):c.745del:p.Leu249fs	coding	Pathogenic
12	102852916	GC	G	C102852918A	PAH	NM_000277.3(PAH):c.740del:p.Gly247fs	coding	Pathogenic
12	102852922	CACAGGTCGGAGGC	TACAGGTCGGAGG	C102852922T	PAH	NM_000277.3(PAH):c.722_735delinsCCTCCGACCTGTA:p.Arg241fs	coding	Pathogenic
12	102855151	A	AC	A102855152C	PAH	NM_000277.3(PAH):c.690_691insG:p.Ser231fs	coding	Pathogenic
12	102855155	GTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCTTTTCTTCCTCCATGTATTCCACTCGAGGGATGGGCTGCCCACTAGAATACAGGCACAAAATA	TGG	G102855155T	PAH	NM_000277.3(PAH):c.510-21_687delinsCCA	coding	Pathogenic
12	102855167	G	GGGAATGTT	A102855176G	PAH	NM_000277.3(PAH):c.667_674dup:p.Gln226fs	coding	Pathogenic
12	102855227	CTCATAGCAAGCATGGGTTTTAT	C	T102855228A	PAH	NM_000277.3(PAH):c.593_614del:p.Tyr198fs	coding	Pathogenic
12	102855231	T	TA	G102855233A	PAH	NM_000277.3(PAH):c.610dup:p.Tyr204fs	coding	Pathogenic/Likely_pathogenic
12	102855233	GCAAGCATGGGTTTTATACAAGGA	G	A102855235T	PAH	NM_000277.3(PAH):c.586_608del:p.Ser196fs	coding	Pathogenic
12	102855234	C	CA	G102855237A	PAH	NM_000277.3(PAH):c.607dup:p.Cys203fs	coding	Pathogenic
12	102855243	G	GT	A102855248T	PAH	NM_000277.3(PAH):c.598dup:p.Thr200fs	coding	Pathogenic
12	102855257	C	CT	C102855260T	PAH	NM_000277.3(PAH):c.584dup:p.Ser196fs	coding	Pathogenic
12	102855260	CAG	C	A102855263T	PAH	NM_000277.3(PAH):c.580_581del:p.Leu194fs	coding	Pathogenic
12	102855261	AGAGTCTT	A	G102855264A	PAH	NM_000277.3(PAH):c.574_580del:p.Phe191_Lys192insTer	coding	Pathogenic
12	102855278	GC	G	C102855282A	PAH	NM_000277.3(PAH):c.563del:p.Gly188fs	coding	Pathogenic
12	102855282	CAT	C	A102855283G	PAH	NM_000277.3(PAH):c.558_559del:p.Trp187fs	coding	Pathogenic
12	102855285	GT	G	T102855289C	PAH	NM_000277.3(PAH):c.556del:p.Thr186fs	coding	Pathogenic
12	102855290	CT	C	T102855294C	PAH	NM_000277.3(PAH):c.551del:p.Lys184fs	coding	Pathogenic
12	102865712	TTCCACTACCAAAAGTCATTCAGAAAAGCTTTCTCTCTCTTTTTCCGGAGGTTTTTCCATGTTGAAAGTAACTTTGTATTCAGTATAGAAAGGCCCATCATCTTCTCCATCTCCCTGAGATTCTATCAAAGCTGTCAAAGTACTATGCCATGAGCATTCTGGACAAATTTTAAGTTTCTTCTTGTGCATGTCTTTTCTTAATCCCTTAACTCAGTAACAGCACTTGTCAAAACACTAAGTTTCCCATGGTGGCATTTCTGTAGTTCCTTAAGACTCAAAGGAGCAAAGCTGTTGTCTTCTCAAACATGTTTTATATTTGCATTTTCTTTTGGCTAAAATAGGGTAGGGGAGGAACACAGAACCCCAGACAGGAAAAAAAAAAAACCATCCTAAAATTGTCCTTCACAGCTGGGTCAGACCAGATAAAAGTAGAAAGCTGAAGTTTGGCTGGCCTGAAATCTTGAATGATTCATTATTTCAGTAAAGCAGCCAGCTCCTTCTTGAATGTAAATGATTCTCTTTTTCCTTCTTCCCTGTTTAATGTAGAGAAGACCGGAGGCTGTTTTATTCAGGACCGAGGCCTTTTCTAATTACTGCAGACACCACTGCGTAATTAGACAACAAAGCTTGGGAGAGAGCAGGGCCCCCGCACAGTGGGTAATTTTGTTTTGTCTAGCAGCAATCATTTTTTATCATGTGTTATTAAAGGGAGGGTTTAAACACACCCCCACACACACATACACGCATGCACATGAACACATGCACACACAGAAGGCAGGACTCTTCATGCTGGTATTTTCCATCCTCAACTGGATGAGGGCAAGGGAGAAGCAGGCTAGGGGTGTGTTTTTCTCTCTTCCCCTCAACAAGCAAGGCAGACTTACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAACCCTAGGAGAAAAGAGACACCTGATTTTTCAAGGCTTCATAGGAAGAGGTCTGGTACCTTTATGAATGCTTTGAATGGGGGCTCTCAAGCCATGACAGTGCATGTCTCCTTCCCTTGGTTATACCCTAAAACTAAAGTCTCGGTTAAACTTAGCTCTCCTACCAGATATTGTGAGTGACACCTTATTAGTAACTTCTTTGATTTAGCATGAGCCTCCTTGCTGTGGATTCCAATGTGCATGATCTGTTCTTAAAGAAACCTCATCTACAGCATATCTGACTGACACACTTGCTAAACTAAGCAAAGTTCATAGGATGGATGTCTATGATGAAGATGTACAATATCCATTTAATTCCTGATTAAGGTTTGTGTCTAGCTCTACCTTTTAATTTCTTGATAGACGAGCAGGCACATGCTTATTGCTCTTGCAATTTTTAAAAATACCATTGATTAAATACATACTATGTGCCAGTTTGTGAGTACTAGGAACTGATTTTACATATAATTCTCACAACAAACTTGCGAGTTCGATGAGTATGATTATCCTGTTCTTTCCGGAATAAATGGTGGTTCAGAGAAGTGGATCCATAGTGACGGTGAGGCTGGGATTTGGATCACCATCAGTAATTGTCAGCCTTTACAATCTGGCAGGGGCCTAGCTAACTGAGAGTCTGTCTCAGGACCTAAAAAGGATGATAATGGAGTCTCCTCTGAAGCTGATTCACAGGCAGCCTTTTCCCAGTGATTTGTAAGCAGCACATTTCCGAGTGAAAGGAGGCTAAGTGTGTCTTTGAGTGTTTGGGGTGGAAATGGGATTCCAACTGATTGAAAGACAATTTTCCAAAAACAGTTGATTGCAGTCTAAATTTTGGTAAGACAAGAGACTGATATCATTTCCGTAGAACTCTGCTGTGGTTCTTCCAAGCCTTTCCCAGTAAGCCATGCCATCCACCACTTTAGCTCACAATTTCTCTGCTCCACTGTCCCTCCAAACCAAGGCAGTAGTGAATTCAAAACAAAAGCTTATGTCACAGAGTGTAATGTTTAAAGGAGACTTTTAAAAAGAGAAATATTCCCTGATTTTTAGATTTGTTTTTTGTTTTGGTTGCTTGATTGGTTGAATTTTTGTTTTGGGAGAGTTTTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCCCCCTCTCTCTCTCTATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATATAGATGTATATTACATGTATATATGTATATACATATATACATATATACATGTATATACACCTATATATATGTATATATATACACATATATATACATATATGTGTGTGTGTATATATATATATATACACATATATATACATATATGTGTATATATATATATATATATATATATATACACATATATATACATATATGTGTATATATATATATATATATATATATATATCAGGGCCTACCAGTAATTGTAAAGACACAGAGGGCAATGTAATATAATGTAATTTGTTCTGAGAATCTGCGGCATTGATTCTGGCACACAGGAAAAAACTACAGACACTTGTTGGAAGAAAGGAAGGGAGGGAAGATAGGAGTTAATTAGTTTATTTCCGGGAATATATTTTGAAAAATAGAAACATCCAAATGTTTCACACTTGAAAAGTGAAGTAAAACTACTACACATTTTTTTTTACTCCAAATCTAAATCCCAGATAAATAATGTGATTACTCTGTTTAGAAAAGATTTTATGACACGGTTATTGCAAAGTATAACTCTTCCTTTCCCTAGAGCACTGAATGGTTTTTAATCGTTAATTACAGATTAGAAAGCTTAGGAATCTGAGTACTTAAAACTACTGTTGTGCCTCGTTTCTACTGGGTGAAGGTAAGTTGGTTTGAGATGATGTGGTTAAAAAAAAAAAATAAAACTGGGCACCATGATTTACTTTCCAAATATCAGTAACACACCATTTTAGAAACCTGTCTACTGGACTAAACAAAGAACATTTATTTGTCCATATCTCCATACTTGGGGCTCAAAATAAACATGTAATATTGGTCAGTCATTAAGGTTTGATTGTTACAGTCATTCTCACTTGCCATTCTTATTTAATAGTTAGTAGTGAATAGTTTTTCTCCAGGCCCTAAGGATAATATGTAGACTTTTGACCCTGTAAGGCACCTTGTAGAAAGGTCCATTTCTATATTTTGGTCTAGACTTGAAGAATATGAAGCCCATGGAGCCATTTGCCTAAAGGCCCAAAACTACAGAACTAGCACCTCCATTTGGATTTTGTGGTCCTCCCTAGGCTGGCAAGTTGAGATTTGAGCACTGAAGTAGGAATCCAGGAAGAAAAGAGAATTCCTTCAATCCGTGGATTTCCACTTCATCATGCTGCTTCTAGGAATGAGATATCCATGAACAGTTCTTACCCCCATTTGCCTTTATTGTTTATCTTTCATGTACCTTGCCTAGGTGGTTTAAAGATTTTCTACTTGTGAAAATAAAAGCTAATGTAATACTGTATACCCAGTTGATATTATCAATTATGTCAATTATGTCATATATCAATTATGTCAGAGGAAATATGTAAGTATATAAATAAAATGATTAAAGAAATACACCAAACTCTAACAAGTGTTACCTCCAGGTAGTGGGAAAAATAAGTAACACTAACAGTTGTATTCTTGAAAACTATTTATGCTTTTCAAGTTTTCTAATGTGAGAACGGGTTTCTTTTAGAATAAAAAAAAGAAAATAGTATTAAATATCCATCTCAAATCATTTTAGTGAAGTAGCAGGAGATTCACACATTGGTATACAGGAACACACACACAGATAATGCACTATACAGATCTTCCATGTGGGAAGGTTTCTAACCATGACCCTTTCCAGCTCCTGGTTTCTAAGTTCATTATCAGCCTGCAAGGGGCCCCAACCAACCAGGTTGCAGGGAGTTTTGCTTTCTCAGTTACCAGTGGTCAGAGAGCTCTGTGGCCTGACGCCCAGCCTCTTGGGGATCTGGCCTTGCATTCCTTGGGCTACCAGACGACCACAGGGCCTCTGTAGCCGTCCATGTGGAGTACATTCTGAATCAAATCACAGTTGGTGATGACTGATCACCCTGTCTCAATTTAGACTAATAGCAGCAATTTCAGTAGCACTGCATGTAATTTATTTATAATCACCCTGTCTCAATTAAACTAATAGCAGCAATTTTAGTTGCACTGCATGTAACCAAGTATGTTTTGACAGGAAAATATATTGTTGGTGAAGGAGTGGTGAGGGGGAGGGGAGGGGATAGAAGACGGGAGAAAGTCGAGAGAGTTCTACAGGATGCAAGTCATGACATCAACTGAAGTCTGCATGTATTGAGAGGTATAATTTGTGTGTGTGGGTGGGTTTAGGGGAGAGGGTAACTACATATATGGAAAAGTCTTGAGTATTCTTGTAGACTGAGATATTTATTCCATCATTTCCTAATATCATAGCTAAGGTTAAACCTCAGAAGTGCTCTCTTTAGGCTAGTGAGAACACAGGTTTTAAAGTCAGAAAAGCTGTGTTGGAATACTAATTCATTTATTCACAAGGAGCATGGCCTGGGAGTGGCCAGTTTATCTCTCAGAGCCTTAGTTTCCTCATCAGTAAAATAAGACTGTCAATCCTACCTGCTTCACAGTGTTGTACAGTTTAAGTCAGGTAATGTCGGCAGCACATTAAGCAAAATTCTGAGCACATTGTAGTTGCTCAAAGCATGATGCATTTGTGCAAAATGGCAGGAAATCCAAAGACAGAGAAGTCTGGCTCAGAATATAAAAAAGATGTACTCTGGAATGGGTCAGTGATCCCCACCAGCCACAAGGGGCTTTTAAACCAACATCTACAGAATTCTTACCTTGCTGTGTATATTTCAGCTAGGCCAATAACAAGAGGCTTTTTGCATTTTTCATAATGTTTCATGACAACTGGGGGAAGGATGGAACACAGAAGACAAAAGGTTCAAACTGGCATTTATTAAGTAGCTGCCATTCCCATCCTATAGACATTGGTCAAGGAGGACTTGCAAACAGTAGACTAGGGGAGCACCGACCATGCCCAATCCCTTTGCTCACCCTACAATTGGCCAAGAAGCCTATTCTGGAAAAATGTATGTACCTAGTTGCCCAAGCCCATAAGCCAGGAGTTATTGTTTTACTTCCCCCTTCTCTCTTCCTTCACATCCAGCAATCAATTTCTGCCCATTCTACCATTCAAACATCTGAGTCTGTCCTTCCTACTTCATTCTCACTGCTGCACCTGCATTCGACCACCAC	T	T102865713C	PAH	NM_000277.3(PAH):c.442-4403_509+883del	noncoding	Pathogenic
12	102866369	GTAATTTTGTTTTGTCTAGCAGCAATCATTTTTTATCATGTGTTATTAAAGGGAGGGTTTAAACACACCCCCACACACACATACACGCATGCACATGAACACATGCACACACAGAAGGCAGGACTCTTCATGCTGGTATTTTCCATCCTCAACTGGATGAGGGCAAGGGAGAAGCAGGCTAGGGGTGTGTTTTTCTCTCTTCCCCTCAACAAGCAAGGCAGACTTACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAACCCTAGGAGAAAAGAGACACCTGATTTTTCAAGGCTTCATAGGAAGAGGTCTGGTACCTTTATGAATGCTTTGAATGGGGGCTCTCAAGCCATGACAGTGCATGTCTCCTTCCCTTGGTTATACCCTAAAACTAAAGTCTCGGTTAAACTTAGCTCTCCTACCAGATATTGTGAGTGACACCTTATTAGTAACTTCTTTGATTTAGCATGAGCCTCCTTGCTGTGGATTCCAATGTGCATGATCTGTTCTTAAAGAAACCTCATCTACAGCATATCTGACTGACACACTTGCTAAACTAAGCAAAGTTCATAGGATGGATGTCTATGATGAAGATGTACAATATCCATTTAATTCCTGATTAAGGTTTGTGTCTAGCTCTACCTTTTAATTTCTTGATAGACGAGCAGGCACATGCTTATTGCTCTTGCAATTTTTAAAAATACCATTGATTAAATACATACTATGTGCCAGTTTGTGAGTACTAGGAACTGATTTTACATATAATTCTCACAACAAACTTGCGAGTTCGATGAGTATGATTATCCTGTTCTTTCCGGAATAAATGGTGGTTCAGAGAAGTGGATCCATAGTGACGGTGAGGCTGGGATTTGGATCACCATCAGTAATTGTCAGCCTTTACAATCTGGCAGGGGCCTAGCTAACTGAGAGTCTGTCTCAGGACCTAAAAAGGATGATAATGGAGTCTCCTCTGAAGCTGATTCACAGGCAGCCTTTTCCCAGTGATTTGTAAGCAGCACATTTCCGAGTGAAAGGAGGCTAAGTGTGTCTTTGAGTGTTTGGGGTGGAAATGGGATTCCAACTGATTGAAAGACAATTTTCCAAAAACAGTTGATTGCAGTCTAAATTTTGGTAAGACAAGAGACTGATATCATTTCCGTAGAACTCTGCTGTGGTTCTTCCAAGCCTTTCCCAGTAAGCCATGCCATCCACCACTTTAGCTCACAATTTCTCTGCTCCACTGTCCCTCCAAACCAAGGCAGTAGTGAATTCAAAACAAAAGCTTATGTCACAGAGTGTAATGTTTAAAGGAGACTTTTAAAAAGAGAAATATTCCCTGATTTTTAGATTTGTTTTTTGTTTTGGTTGCTTGATTGGTTGAATTTTTGTTTTGGGAGAGTTTTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCCCCCTCTCTCTCTCTATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATATAGATGTATATTACATGTATATATGTATATACATATATACATATATACATGTATATACACC	G	A102866372T	PAH	NM_000277.3(PAH):c.442-1377_509+226del	noncoding	Pathogenic
12	102866594	ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC	A	T102866596C	PAH	NM_000277.3(PAH):c.443_509+1del	noncoding	Pathogenic
12	102866641	C	CGGTACACA	A102866652T	PAH	NM_000277.3(PAH):c.456_463dup:p.Arg155fs	coding	Pathogenic
12	102866641	CG	C	G102866643T	PAH	NM_000277.3(PAH):c.463del:p.Arg155fs	coding	Pathogenic
12	102894429	T	TA	G102894442A	PAH	NM_000277.3(PAH):c.352+294dup	noncoding	Benign
12	102894758	GAAAGC	G	A102894759T	PAH	NM_000277.3(PAH):c.324_328del:p.Glu108fs	coding	Pathogenic
12	102894830	CGTTTATCCAAATGGGT	C	T102894832A	PAH	NM_000277.3(PAH):c.241_256del:p.Thr81fs	coding	Pathogenic
12	102894876	GA	G	A102894877G	PAH	NM_000277.3(PAH):c.210del:p.Arg71fs	coding	Pathogenic
12	102894882	GTCTAGATT	G	T102894883C	PAH	NM_000277.3(PAH):c.197_204del:p.Glu66fs	coding	Pathogenic
12	102894896	TG	T	G102894899T	PAH	NM_000277.3(PAH):c.190del:p.His64fs	coding	Pathogenic
12	102894897	GGGT	TGGG	G102894897T	PAH	NM_000277.3(PAH):c.187_190delinsCCCA:p.Thr63_His64delinsProAsn	coding	Pathogenic/Likely_pathogenic
12	102912831	TC	T	C102912832T	PAH	NM_000277.3(PAH):c.127del:p.Glu43fs	coding	Pathogenic
12	102917094	TG	T	G102917095C	PAH	NM_000277.3(PAH):c.36del:p.Arg13fs	coding	Pathogenic
12	102917584	GC	G	C102917590T	PAH	NM_000277.2(PAH):c.-460delG	noncoding	Benign/Likely_benign
12	102917606	ACAGT	A	T102917610G	PAH	NM_001354304.2(PAH):c.-95-385_-95-382del	noncoding	Benign/Likely_benign
12	102957490	AG	A	G102957497A	ASCL1	NM_001354304.2(PAH):c.-96+704del	noncoding	Benign
12	102958344	ACGGCCGCAGCCGCGG	A	G102958358C	ASCL1	NM_004316.4(ASCL1):c.114_128del:p.Ala43_Ala47del	coding	Pathogenic
12	102958393	CGCAGCA	C	C102958425G	ASCL1	NM_004316.4(ASCL1):c.151CAG[10]:p.Gln61_Gln62del	coding	Benign
12	104866367	AAGAC	A	A104866376G	SLC41A2	NM_001352171.3(SLC41A2):c.1175+53GTCT[2]	noncoding	Benign
12	104866380	GTACA	G	T104866381C	SLC41A2	NM_001352171.3(SLC41A2):c.1175+48_1175+51del	noncoding	Benign
12	104866381	TACACACAC	T	C104866409T	SLC41A2	NM_001352171.3(SLC41A2):c.1175+17GT[13]	noncoding	Benign
12	104866381	TACACAC	T	C104866411T	SLC41A2	NM_001352171.3(SLC41A2):c.1175+17GT[14]	noncoding	Benign
12	104866381	TACAC	T	C104866413T	SLC41A2	NM_001352171.3(SLC41A2):c.1175+17GT[15]	noncoding	Benign
12	104866381	TAC	T	C104866415T	SLC41A2	NM_001352171.3(SLC41A2):c.1175+17GT[16]	noncoding	Benign
12	104866415	CAT	C	A104866418T	SLC41A2	NM_001352171.3(SLC41A2):c.1175+15_1175+16del	noncoding	Benign
12	104866587	TAAA	T	A104866602G	SLC41A2	NM_001352171.3(SLC41A2):c.1028-11_1028-9del	noncoding	Benign
12	104866587	TAA	T	A104866603G	SLC41A2	NM_001352171.3(SLC41A2):c.1028-10_1028-9del	noncoding	Benign
12	104866587	TA	T	A104866604G	SLC41A2	NM_001352171.3(SLC41A2):c.1028-9del	noncoding	Benign
12	104886079	AT	A	T104886080C	SLC41A2	NM_001352171.3(SLC41A2):c.1027+213del	noncoding	Benign
12	104888921	GT	G	T104888927C	SLC41A2	NM_001352171.3(SLC41A2):c.880+111del	noncoding	Benign
12	106358132	GAGTGA	G	T106358135G	POLR3B	NM_018082.6(POLR3B):c.72+184_72+188del	coding	Benign
12	106363847	ATTC	A	C106363853G	POLR3B	NM_018082.6(POLR3B):c.73-17_73-15del	noncoding	Benign
12	106376629	C	CTTTTTTTTTTT	G106376636T	POLR3B	NM_018082.6(POLR3B):c.496+185_496+186insTTTTTTTTTTT	noncoding	Benign
12	106376629	C	CTTTTTTTTTTTT	G106376636T	POLR3B	NM_018082.6(POLR3B):c.496+185_496+186insTTTTTTTTTTTT	noncoding	Benign
12	106378651	TA	T	A106378664T	POLR3B	NM_018082.6(POLR3B):c.614+280del	noncoding	Benign
12	106405539	TACAC	T	C106405577A	POLR3B	NM_018082.6(POLR3B):c.847-317AC[18]	noncoding	Benign
12	106405539	T	TAC	A106405581C	POLR3B	NM_018082.6(POLR3B):c.847-317AC[21]	noncoding	Benign
12	106405539	T	TACAC	A106405581C	POLR3B	NM_018082.6(POLR3B):c.847-317AC[22]	noncoding	Benign
12	106405539	T	TACACACAC	A106405581C	POLR3B	NM_018082.6(POLR3B):c.847-317AC[24]	noncoding	Benign
12	106405539	T	TACACACACAC	A106405581C	POLR3B	NM_018082.6(POLR3B):c.847-317AC[25]	noncoding	Benign
12	106427179	C	CT	A106427195T	POLR3B	NM_018082.6(POLR3B):c.1102-3dup	noncoding	Benign
12	106427179	C	CTT	A106427195T	POLR3B	NM_018082.6(POLR3B):c.1102-4_1102-3dup	noncoding	Benign
12	106427179	CT	C	T106427194A	POLR3B	NM_018082.6(POLR3B):c.1102-3del	noncoding	Benign
12	106427179	CTT	C	T106427193A	POLR3B	NM_018082.6(POLR3B):c.1102-4_1102-3del	noncoding	Benign
12	106427197	C	CTT	A106427202T	POLR3B	NM_018082.6(POLR3B):c.1105_1106dup:p.Leu369fs	coding	Benign/Likely_benign
12	106432061	CA	C	A106432063T	POLR3B	NM_018082.6(POLR3B):c.1465-255del	noncoding	Benign
12	106433853	GA	G	A106433854T	POLR3B	NM_018082.6(POLR3B):c.1763del:p.Asp588fs	coding	Pathogenic
12	106454975	G	GA	T106454984A	POLR3B	NM_018082.6(POLR3B):c.2293+272dup	noncoding	Benign
12	106463936	CT	C	T106463947C	POLR3B	NM_018082.6(POLR3B):c.2713+327del	noncoding	Benign
12	108562361	GC	G	C108562364T	ISCU	NM_213595.3(ISCU):c.-259delC	noncoding	Benign
12	109098591	TG	T	G109098593A	UNG	NM_080911.3(UNG):c.294del:p.Ser97_Trp98insTer	coding	Pathogenic
12	109099207	GAAGA	G	A109099215C	UNG	NM_080911.3(UNG):c.366_369del:p.Arg122fs	coding	Pathogenic
12	109099236	AC	A	C109099241A	UNG	NM_080911.3(UNG):c.392del:p.Pro131fs	coding	Pathogenic
12	109099275	CAT	C	T109099277A	UNG	NM_080911.3(UNG):c.428_429del:p.Ile143fs	coding	Pathogenic
12	109102808	G	GT	G109102815T	UNG	NM_080911.3(UNG):c.534-25dup	noncoding	Benign
12	109102874	TAG	T	A109102877G	UNG	NM_080911.3(UNG):c.572_573del:p.Glu191fs	coding	Pathogenic
12	109102947	A	AT	G109102970T	UNG	NM_080911.3(UNG):c.622+42dup	noncoding	Benign
12	109103458	C	CA	C109103460A	UNG	NM_080911.3(UNG):c.649dup:p.Thr217fs	coding	Pathogenic
12	109103630	C	CT	C109103639T	UNG	NM_080911.3(UNG):c.801+27dup	noncoding	Benign
12	109103630	CTTTT	C	T109103635C	UNG	NM_080911.3(UNG):c.801+24_801+27del	noncoding	Benign
12	109109763	C	CAAAAAA	T109109782A	UNG	NM_080911.3(UNG):c.802-53_802-48dup	noncoding	Benign
12	109109781	A	AAAAAT	T109109782A	UNG	NM_080911.3(UNG):c.802-48_802-47insAAAAT	noncoding	Benign
12	109109781	A	AAAAT	T109109782A	UNG	NM_080911.3(UNG):c.802-48_802-47insAAAT	noncoding	Benign
12	109109781	A	AAAT	T109109782A	UNG	NM_080911.3(UNG):c.802-48_802-47insAAT	noncoding	Benign
12	109441647	CA	C	A109441648G	MYO1H	NM_001101421.4(MYO1H):c.2572del:p.Arg858fs	coding	Pathogenic
12	109483575	G	GA	G109483577A	UBE3B	NM_130466.4(UBE3B):c.25dup:p.Arg9fs	coding	Pathogenic
12	109516867	CG	C	G109516869T	UBE3B	NM_130466.4(UBE3B):c.2061del:p.Ser688fs	coding	Pathogenic
12	109521295	GTT	G	T109521299G	UBE3B	NM_130466.4(UBE3B):c.2228_2229del:p.Val742_Phe743insTer	coding	Pathogenic
12	109521487	TC	T	C109521489A	UBE3B	NM_130466.4(UBE3B):c.2302del:p.His768fs	coding	Pathogenic
12	109521560	G	GT	A109521563T	UBE3B	NM_130466.4(UBE3B):c.2364+11dup	noncoding	Benign
12	109526409	G	GA	T109526414A	UBE3B	NM_130466.4(UBE3B):c.2624dup:p.Asn875fs	coding	Pathogenic
12	109534640	GCAAGCGGGAGCCA	C	G109534640C	UBE3B	NM_130466.4(UBE3B):c.3065_3078delinsC:p.Arg1022fs	coding	Pathogenic
12	109557119	AAG	A	G109557123T	MMAB	NM_052845.4(MMAB):c.660_661del:p.Phe221fs	coding	Pathogenic/Likely_pathogenic
12	109557121	GAGAT	G	A109557124T	MMAB	NM_052845.4(MMAB):c.656_659del:p.Tyr219fs	coding	Pathogenic
12	109559096	C	CAA	T109559097A	MMAB	NM_052845.4(MMAB):c.643_644insTT:p.Arg215fs	coding	Pathogenic
12	109561041	G	GTC	G109561048T	MMAB	NM_052845.4(MMAB):c.581_582dup:p.Arg195fs	coding	Pathogenic
12	109561063	G	GGCCCGTGCC	G109561069T	MMAB	NM_052845.4(MMAB):c.560_561insGGCACGGGC:p.Ala187_Val188insAlaArgAla	coding	Pathogenic
12	109561065	CC	G	C109561065G	MMAB	NM_052845.4(MMAB):c.558_559delinsC:p.Ala187fs	coding	Pathogenic
12	109561833	TC	T	C109561835T	MMAB	NM_052845.4(MMAB):c.367del:p.Asp123fs	coding	Pathogenic
12	109565115	TCA	T	A109565117T	MMAB	NM_052845.4(MMAB):c.348+2_348+3del	noncoding	Pathogenic
12	109565136	CA	C	A109565139T	MMAB	NM_052845.4(MMAB):c.330del:p.Phe110fs	coding	Pathogenic
12	109571747	G	GA	T109571749A	MMAB	NM_052845.4(MMAB):c.135-38dup	noncoding	Benign
12	109573419	C	CA	C109573421A	MMAB	NM_052845.4(MMAB):c.61dup:p.Cys21fs	coding	Pathogenic
12	109573457	GC	G	C109573458T	MMAB	NM_052845.4(MMAB):c.23del:p.Ser8fs	coding	Pathogenic
12	109585759	C	CA	G109585769A	MVK	NM_000431.4(MVK):c.528-254dup	noncoding	Benign
12	109586097	C	CG	A109586100G	MVK	NM_000431.4(MVK):c.605dup:p.Val203fs	coding	Pathogenic
12	109596630	T	TG	C109596636G	MVK	NM_000431.4(MVK):c.*58dup	noncoding	Benign/Likely_benign
12	109788380	TG	T	G109788385C	TRPV4	NM_021625.5(TRPV4):c.2208+19del	noncoding	Benign
12	109794405	TAGA	T	A109794408G	TRPV4	NM_021625.5(TRPV4):c.1412_1414del:p.Phe471del	coding	Pathogenic/Likely_pathogenic
12	109798594	G	GC	A109798600C	TRPV4	NM_021625.5(TRPV4):c.1152+15dup	noncoding	Benign/Likely_benign
12	109799153	CTT	C	T109799169G	TRPV4	NM_021625.5(TRPV4):c.854-243_854-242del	noncoding	Benign
12	109800412	T	TTC	C109800413T	TRPV4	NM_021625.5(TRPV4):c.853+205_853+206insGA	noncoding	Benign
12	109802838	G	GCATC	T109802870C	TRPV4	NM_021625.5(TRPV4):c.712+125GATG[8]	noncoding	Benign
12	110127542	CT	C	T110127547G	IFT81	NM_014055.4(IFT81):c.144+23del	noncoding	Benign
12	110129060	G	GT	A110129067T	IFT81	NM_014055.4(IFT81):c.365dup:p.Leu122fs	coding	Pathogenic
12	110132459	C	CA	G110132476A	IFT81	NM_014055.4(IFT81):c.430-72dup	noncoding	Benign
12	110136870	AATT	A	T110136876A	IFT81	NM_014055.4(IFT81):c.781+16_781+18del	noncoding	Benign
12	110147060	CT	C	T110147064G	IFT81	NM_014055.4(IFT81):c.1041+16del	noncoding	Benign
12	110180439	TAAACTTCGAAGCA	T	A110180441G	IFT81	NM_014055.4(IFT81):c.1208_1220del:p.Lys403fs	coding	Pathogenic
12	110190899	CT	C	T110190904A	IFT81	NM_014055.4(IFT81):c.1339-16del	noncoding	Benign
12	110191168	CT	C	T110191182C	IFT81	NM_014055.4(IFT81):c.1467+134del	noncoding	Benign
12	110205641	A	AT	A110205643T	IFT81	NM_014055.4(IFT81):c.1764dup:p.Ile589fs	coding	Pathogenic
12	110218026	G	GT	A110218036T	IFT81	NM_014055.4(IFT81):c.1849-9dup	noncoding	Benign
12	110218026	GT	G	T110218035A	IFT81	NM_014055.4(IFT81):c.1849-9del	noncoding	Benign
12	110282700	T	TNNNNNNNNNNNNNNNNNN	T110282701N	ATP2A2	NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN	noncoding	Pathogenic
12	110296621	TC	T	C110296622G	ATP2A2	NM_170665.4(ATP2A2):c.348del:p.Ile116fs	coding	Pathogenic
12	110344923	GT	G	T110344924G	ATP2A2	NM_170665.4(ATP2A2):c.2560del:p.Trp854fs	coding	Pathogenic
12	110383048	CATGCTGAGGCCCCAGCTCCTGCAGGGGCTAAGCCCTTTCCACCATCACAGGCTCCTCCAACTACTATTTCCAGTTTCCTACAAAGTGACTATTAAAATGCAAAACCCAGGTTGGGCACAGTGGCTCACACCTGTAATTCCAGCACTTTAAGAAGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCATCTCTACTGAAAATACAAAAAATTAGCCGGGCATAGTGGCACGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAACCAGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTGCCTGGGTGACAGACTGAGACTCTGTCTCAAAAAAAGAAAATGCAAAACCCAGCTGGGCGTGGTGGCTCACACCTGTAATCCTGGCACTCTGGGTGGCAGAGGCAGGAGGATCACCTGGGCCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAGACCCTGTCTCTAAAGAAATTTTAAAATATCAGCCAAGTGGCCAGGTGCAGTGGTTCATGCCTGTAAACCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAGGAGTTCGAGACTAGGCTAACAGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCTAGCCTTGGCTACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAAAAGAAGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACAGTGGCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGAGGGCGGATGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTATGTCTAAAACATAAAATAAAATAAAGTAAAATAAAATAGAAAGAAAAAAAAATTAGCCAAGCACAGTGGCACATGCCTGTGGTCCCAGCTACTCAGGGGGCTAAGGCAGGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTATGTTTGTGCCACTCCCGCCTGAGTGACAGAGTGAGACCCTGTCTCTAACAACAAAACCAAAACCAAAACCAAAGGAGGCCGGGCACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGAAATTCAAGACCAGCCTGGCCAAGATAGTGAAACCCCATCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTGGCACACACCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGAAAATTGCTTAAACCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGTGAGACTCTGTCTCACAAAAAAAAAACAAAAAAAAACAAAAAAAACAAAAAACCAAAGGAGCAGAACAACCTACCTCACAATTTGAAAGCCTGCTATTTTCAGGAAGTGCTTGTCCTTCTATCCTGTGGTGTGATACACAGCTACCCTAACCCAACCAGAAAAGGCCCAAAAAAGGCATCAACTAAGGTCTCTCTTCCCAGAGTTCTAGACCATCAGAAATACACTGCTGAAAAGCCAATCAGTCTCAGAAAAAGTTGGCCTATTCCAGAAAAAAGCTTGTAGTTCTATCCAGAATGCAGTTCATTAAAGATCACTGCCTCGGGCTGGGTGCAGTGGCTCAGGCCTGTAATCCCAACACTTAGGGAGACTGAGGCGGGTGGATTACCTAAGGTCAGGAGTTGCAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTTCTAAAAAAATACAAAAATTAGTTGGGTGTGGTGGCGGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAGTCACTTTAACCAGGAGGCGGAGGTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCTGCCTGGGCGACAAGAGTGAAACTCCGTCTCAAACAAACAAATAAAAAATCACTGCCTCTCCGCAGCCCCCGCTTTATTCTCACCCACATTCTATAAAAAGGGACCTATGCTCACTGTTACCCATCTCTTGCCACCATTCTCTTCCATCCCTTGCTATCCCTTCAGATTCCCATGAAAATTCCTCTCAAGCCAAGATTACTGCAATGCTCCTGCTAGCCCCTGGGCCTGGGTCTGAGATTCCAAGCTGCCATTGCCATTCCAAGCTGCCAGCTGTTGCCAGACTAGTATTTCTAAAACATCATTTTCATCATGGGTGCAGGCAGCTTGGAGAAGAGGAATAAGCACTTGAGGTGAGGGGAGATCTTGTGCAAACAAATCCATCCTTCTAGATCTGCTTCCTCATCTAAACGCTTGGGATGGCCCCTTCCCAGCTCCATCATTCCCCTGGCTTAAGAGCTCATAAGACTGTTTATTGTCACAAGGCCCTGTTTTTCTGATGGCCTTTTTTGGACCTTTACAAATAGACAGCATATCTATCTGACCTTATTTCCCACTATTCCTGAGAACTCACTGCCAGTGTCCTAACTGCCATCTGTTGGAGGTCCCTGTGAAGATTACCCTTCACCTGCAATCTTTTTCAAGATCAGTGATTTTTCTGTTGTTCACGCCTAATTACTGCCTTTAATCACCTTATCCCTTTCTTATTCCTTTTTAATTATACTAAGGACATGGCAAAACAAAATTCCCTAAAAGGATATTATGGTTTTAGGGATGCCATCCAAATTCTCAGTCAGGCACACCATAAATTTATAAGTCATAAGGAGGAGCTATGACCCCCTCAAAAGAAAAAAAGCCAAATAATGATCTGTGGGGAGAAGACACTTGAATTCAAGCAAAAACAGCTGCTCAAATGGTATTACCTAAGCGTTAGAGACATGTGTCATGACCTAAAAAAAGTAAAAGACTAGTATAAGTTTTATACACCATTTCTATGAAACTTGGTATCGAGTATTAATGCTGCATATTCTCCCTATTATCTCTGATCCCCCCCAACAACAGCCACTGTCTTCCTGCCCCAAGAATTACTTACCTTTTATCAGATAAGGATCCAACATCTGTGCCTGTTCAAACTTGAGGACAGAGTTTTTATTGTCTCCAGCTCTGAAGTACAGATCTGCCAAGCTTCCCAATAGGTCCACGTTATCTCGCAATAAGGATTTTTTCTCTAGTGAACTTTAAGATATTTATTAAACATTGAACCTTTAAATCTATTATAAATCCTCTTAGTTGCTGAATCTGGATGATTGGTCATACAGATACTATTTTCTTTTGCATAAATATAAAATTCTTCGTAATAAAAAACTTTAAGCTTATGACTTTAAAAAAAGTTATATAGGACAGGATAGCAAAAACAAAGAATAAAGCAGAAGTCTCTCAGTACCAACAAATAACTCTGTGGTTGCAGTTCTTCAGAACACAACATACGCTACATGGTGTTAAAGGTAATGTCATTCACAAGTGACACCTATTTATTACTCAAGTAAACGACTTTGCATAACACAAGCCCAAGTCTCTTCTTGTCCTTGAACTTTATCTGAATATAAAGAAAATCCCTAGTCCTAAGCAGGCAAGCTAGGTTAGACACTGCAATAAACCAAGCTTCTGGTGAGTGCAAAATGATTTTCTTCCAGGCTGAAGAATGATACACCAAGGCCAGGCATGGTGGCTCACGTCTATAATCCCAGCACTTTGGGAGGCCCACGTGGGAGAATCACTTGAGCCCAGGAATTCAAGACCAGCTTGGGCAACATGGTGAAATCCCATCTCTACAAAAACATACAAAAATTAGCTGGGTGTGGTGGCATGCGCCTGTAGTCCCAGATACTCAGGAGGCTGAGCAGGAGGATGGTTTGAGCCCGGGAGATTGACAGGTCAAGGCTACACTGAGCTGTGACTGCGCCACTGCACTCTAGCCTGGGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGACAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGAGAGAGGCAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGACCTTGTCTCAAAAAAAAAAAAAAAAATGACACACCAAGGTAGCCTGCTTTGCTTTGCAAGGGTTACTACCTGTGCAGGCACAGAGCTAAACTCAGTCAGATTTCTATTTTTACAGGTCTCCAACAGAGATGATTACATGATTACATTTGGGACCATTCAGTATAAAAGACTAACACATCCCAGAGACTGGCTGCAGCACCAACAGCAAAGCATCTCATTTTTCTTTTTGCTACTTCAGATACATCAGACTTCCAGACAAGCAAAGGGCCTCAAGAACACTGAATTAACTTTGTGGCTCTCACCAGATGGTACTGATTGCTCTTGAGTTGTCACCAGTGTGCACAAAAGCATACGCTTTGATCCACACAGAGAGCCAGTCCAAGTTAGGCACGGTTTGGATCACATTCATTGTCATGGATGCCACCTCTGCCCCTTTTACAGAAAGGGACAACAAGCCTAAACCAACAGAAAGCAGAAGAAAGAAAGTAAGGCACGATATCTCTCTTCCACATGCAAGGAGCAACGGGCTACATCTTCCCTTGGCTAAAAGGCAACTGCTTCCCTATTCTGAGCGATGCATGAGAGAAAAACCATAATTTAGTATTTCTTTTCTTTTTGAGACAGTGTCTTGTTCTGTCCCCCTGGGCTGGAATGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATACTCATGCCCCAGCCTTCCGAGAAGCTGGGACTACAGGCACGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTGTGCCATGTTGCCCAGGCTGGTCTCGACCTGCTGAGCTCAGGCAATCCACCCACCTCAGCCTCCCAAGGTGCTAGAATTACAGGTGTAAGCCACCATGCCCGGCCAAAAACCATAATTAAGTATTTCTTGATTGAATATGTGACAACAGGAATCCTACTAAATCACTCTCTTCAGGGGAACTTTTAAAAAAAATAAAGTTATTCTAATGTACAGGCAAGATTGAGAACTACTATCTTTGACAGTAAACATGCCATGAAAACAGGCAGGAAATATCTCTACCTAGAATGGCATCAAGGGCTAATGGGCACTGCCTCAGCACCTCCTTATAGCTGGTGACTGAAGGGCGCTCCTGACCAGCCTTCTTGTACAGGTTTGCCAGCATCATGTTTATCTGTACAAACACAAATAACAGATAGCAAAATAAGCGTATATTGCAAAGAAAATCTCTCACCATGAAAAAGTCCTAATTTTCATTACCAGTTATTTACTTTTTACTGGAAAATCTACCCACAACCCTGTGCAAATAAAGGCAGACTGACCCCATTCTTCAAAAGAAAGAAGAAATTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCCGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAAACCGGGAGGCGGAGCTTGCAGTGAACCGACATCACGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAATTACTACCCTTCCTTTCCCTAGCTCCTGCCTTCCCTAAGAGGAAAGTCACATTACCTTCCCACAAGGCCCAGTAATATCTGAACAAAAGACGCTGCCCTCTGGAAACTGGAATAACATTCATTTAAGAAATGGTAGAGAACGCTAGTTAACTTGATTCTTTCTTGATCTTAAAACAGAAGATGAACTATCTCACATAAGAAAGTGAGAAACTCTTGACATAGCTAGTTAAGAAGGATCAGCTCAGTTTTTCCTAATAAGGAAATGATACAGAAAGACAGATAAAGAAGTATAATACTTGGCTTTTCTTTGACAATTCGACTTGTGGCTAGACTCTAGCCTTTCTAACACTTAAGGCTTTGGCCCGTAGGTACTAACTCACTAAAGTAATGCTACAAAAATCAGCTACACTATTTAAATCCAGTGAGTGCAGACAGCTGCATTTTAGCGTAATTTAAATATGTAACTTTGTAAAGCTAAATTAAAATAATCCTACCTAACATGCAACTGGGAAATGAGAAAATCTAAAAGTTCTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATTACGAGGTCAGGAGATTGAGACCATCCCGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATGACGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGACTGGGAGACAGAGCGAGACTCCGTCTCAAAAAACAACAAAAAAAACCCACAAAAACAAAAAAAAAGCCAGAAAATCTAAAAGTTCCTAAGAATGTAGAAGTTATAGGCAAGTGATAAAAGACCTTCCTAATAGTACACAGATAAACACAATATTCCAATTTAAAATTAGATTTTTTTTTTTGAGACGGAGTTTCACGCTTGTCACCCAGGCTAGAGTGCGATGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTTTTTGTATTTTAAGTAGAGATGGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAACCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCTGGCAAAATTAGTAGATTTTAAACACAACAGTATTTGCTAGATCATTAACCTAAGGAAGCAGTCAATGTGAGGGCACAAAAGAAAAAAGGTCAACCCCCAATCTCTTCGATTTAACTGTGGCTTGGTATGCCAGATATTTATAGAAAGAGTGGCTCTAAAGATAAAGAACATCTGTTCCAATTATAGACCTACATTATATAAAACAATCTAATATAGCATTGATTCACACTAATTCAAACAATGGAATAATGAAATACTAAAAATAAAACTATTTTTTACTTGGCCTCAGATTTTCCATATTAGGCTACTATTTTGAAAATGCAAAGAAAAATACTTAAAAGGAAAACTCCAGGATTGATGTCAATACTTGTAAAGAATAAAAAGTTAAATTTAAGATCCTTTCTTGACTGCTGGTTATATTAACAAACTATGACTGATGGACTATCTTTCTCAACAAATATCAAAATTTCCTTTAAGCTACTTGACTGTCACTTTAAAAGAATGAGTTTTGAGTAATACCTAATGAAAAAGTCAATTATTGGCCGGGCGCAGTGGTTCACACCTCTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAATACAAAAAATTAGGCAGGTGCAGCGGTACGCGCCTGTAGTACCAGCTACTCAGGAGGCTGAGACAGGAGA	C	G110383051C	ANAPC7	NM_016238.3(ANAPC7):c.409-2478_818-89del	noncoding	Pathogenic
12	110614207	C	CTCCT	G110614212T	TCTN1	NM_001082538.3(TCTN1):c.26_29dup:p.Val11fs	coding	Pathogenic
12	110614336	AG	A	G110614338C	TCTN1	NM_001082538.3(TCTN1):c.156del:p.Arg52fs	coding	Pathogenic
12	110616257	T	TA	T110616258A	TCTN1	NM_001082538.3(TCTN1):c.220+1855_220+1856insA	noncoding	Benign
12	110619823	C	CT	C110619830T	TCTN1	NM_001082538.3(TCTN1):c.221-7dup	noncoding	Benign
12	110626429	CAA	C	A110626431G	TCTN1	NM_001082538.3(TCTN1):c.411_412del:p.Arg138fs	coding	Pathogenic
12	110628749	G	GT	A110628758T	TCTN1	NM_001082538.3(TCTN1):c.473-10dup	noncoding	Benign/Likely_benign
12	110628749	GT	G	T110628757A	TCTN1	NM_001082538.3(TCTN1):c.473-10del	noncoding	Benign
12	110645019	C	CT	G110645021T	TCTN1	NM_001082538.3(TCTN1):c.1385dup:p.Trp463fs	coding	Pathogenic
12	110645098	TC	T	C110645100A	TCTN1	NM_001082538.3(TCTN1):c.1465del:p.His489fs	coding	Pathogenic
12	110647227	CA	C	A110647228G	TCTN1	NM_001082538.3(TCTN1):c.1527del:p.Ala511fs	coding	Pathogenic
12	110647730	ATC	A	C110647736G	TCTN1	NM_001082538.3(TCTN1):c.1636-18TC[2]	noncoding	Benign/Likely_benign
12	110647882	CGTTT	C	T110647888A	TCTN1	NM_001082538.3(TCTN1):c.1775_1778del:p.Val592fs	coding	Pathogenic
12	110911270	TG	T	G110911276T	MYL2	NM_000432.4(MYL2):c.403-96del	noncoding	Benign
12	110914126	GC	G	C110914133G	MYL2	NM_000432.4(MYL2):c.274+59del	noncoding	Benign
12	110914158	AG	A	G110914159A	MYL2	NM_000432.4(MYL2):c.274+27del	noncoding	Benign
12	110914159	GAC	G	A110914176G	MYL2	NM_000432.4(MYL2):c.274+9GT[8]	noncoding	Benign
12	110914159	G	GACAC	G110914178A	MYL2	NM_000432.4(MYL2):c.274+9GT[11]	noncoding	Benign
12	110914159	G	GAC	G110914178A	MYL2	NM_000432.4(MYL2):c.274+9GT[10]	noncoding	Benign/Likely_benign
12	110914160	A	AAC	C110914161A	MYL2	NM_000432.4(MYL2):c.274+25_274+26insGT	noncoding	Benign
12	110914170	AC	A	C110914171A	MYL2	NM_000432.4(MYL2):c.274+15del	noncoding	Benign
12	110914175	CA	C	A110914176C	MYL2	NM_000432.4(MYL2):c.274+10del	noncoding	Benign
12	110914177	CG	C	G110914178A	MYL2	NM_000432.4(MYL2):c.274+8del	noncoding	Benign
12	110915516	GA	G	A110915524G	MYL2	NM_000432.4(MYL2):c.169+198del	noncoding	Benign
12	110918917	TAATC	T	A110918919G	MYL2	NM_000432.4(MYL2):c.93+183_93+186del	noncoding	Benign
12	110920308	AT	A	T110920312G	MYL2	NM_000432.4(MYL2):c.3+218del	noncoding	Benign
12	111447547	ATGGGG	A	T111447568C	SH2B3	NM_005475.3(SH2B3):c.1236+4TGGGG[4]	noncoding	Benign
12	111554227	TA	T	A111554241C	ATXN2	NM_001372574.1(ATXN2):c.289-11del	noncoding	Benign/Likely_benign
12	111598949	GGCT	G	C111598975T	ATXN2	NM_001372574.1(ATXN2):c.59AGC[8]:p.Gln28del	coding	Benign
12	111867587	A	ATG	C111867594T	MAPKAPK5	NM_003668.4(MAPKAPK5):c.207_208dup:p.Ala70fs	coding	Pathogenic
12	111888593	A	AT	C111888596T	MAPKAPK5	NM_003668.4(MAPKAPK5):c.1077dup:p.Leu360fs	coding	Pathogenic
12	112446277	TG	T	G112446279T	PTPN11	NM_002834.5(PTPN11):c.18del:p.Trp6fs	coding	Pathogenic
12	112450086	C	CA	G112450103A	PTPN11	NM_002834.5(PTPN11):c.138-216dup	noncoding	Benign
12	112450398	C	CTT	G112450402T	PTPN11	NM_002834.5(PTPN11):c.220_221dup:p.Leu74fs	coding	Pathogenic
12	112453170	CT	C	T112453176A	PTPN11	NM_002834.5(PTPN11):c.333-19del	noncoding	Benign
12	112453375	GATTCGCTGTCA	G	A112453376G	PTPN11	NM_002834.5(PTPN11):c.514_524del:p.Ile172fs	coding	Pathogenic
12	112455871	GT	G	T112455888G	PTPN11	NM_002834.5(PTPN11):c.643-62del	noncoding	Benign
12	112489005	CATG	C	A112489009T	PTPN11	NM_002834.5(PTPN11):c.1448-15_1448-13del	noncoding	Benign/Likely_benign
12	112505656	C	CA	C112505682A	PTPN11	NM_002834.5(PTPN11):c.*33-144dup	noncoding	Benign
12	114356076	TA	T	A114356077G	TBX5	NM_181486.4(TBX5):c.1012del:p.Tyr338fs	coding	Pathogenic
12	114366348	CT	C	T114366353G	TBX5	NM_181486.4(TBX5):c.798del:p.Val267fs	coding	Pathogenic
12	114385840	C	CT	C114385855T	TBX5	NM_181486.4(TBX5):c.664-287dup	noncoding	Benign
12	114385840	C	CTT	C114385855T	TBX5	NM_181486.4(TBX5):c.664-287_664-286dup	noncoding	Benign
12	114398682	CG	C	G114398684C	TBX5	NM_181486.4(TBX5):c.400del:p.Arg134fs	coding	Pathogenic
12	114398696	G	GGGCT	C114398701G	TBX5	NM_181486.4(TBX5):c.383_386dup:p.Met131fs	coding	Pathogenic
12	114399414	TA	T	A114399429G	TBX5	NM_181486.4(TBX5):c.362+98del	noncoding	Benign
12	114399414	T	TA	G114399430A	TBX5	NM_181486.4(TBX5):c.362+84dup	noncoding	Benign
12	114399533	G	GT	A114399535T	TBX5	NM_181486.4(TBX5):c.341dup:p.Tyr114Ter	coding	Pathogenic
12	114401901	AC	A	C114401902T	TBX5	NM_181486.4(TBX5):c.166del:p.Val56fs	coding	Pathogenic
12	114672436	GT	G	T114672447G	TBX3	NM_005996.4(TBX3):c.1711-135del	noncoding	Benign
12	114674287	A	AG	C114674290G	TBX3	NM_005996.4(TBX3):c.1587dup:p.Ser530fs	coding	Pathogenic
12	114674794	TCTCGGCCTCGG	T	T114674796G	TBX3	NM_005996.4(TBX3):c.1070_1080del:p.Ala357fs	coding	Pathogenic
12	114677562	ATAAT	A	A114677564G	TBX3	NM_005996.4(TBX3):c.881+14_881+17del	noncoding	Benign/Likely_benign
12	114682517	C	CT	C114682530T	TBX3	NM_005996.4(TBX3):c.389+283dup	noncoding	Benign
12	114684071	G	GGA	C114684096G	TBX3	NM_005996.4(TBX3):c.-895TC[13]	noncoding	Benign
12	114684071	G	GGAGAGAGA	C114684096G	TBX3	NM_005996.4(TBX3):c.-895TC[16]	noncoding	Benign
12	114684487	AGCTC	A	G114684500T	TBX3	Single_allele	noncoding	Benign
12	115963525	G	GA	C115963532A	MED13L	NM_015335.5(MED13L):c.6388-7dup	noncoding	Benign
12	115968969	C	CA	T115968972A	MED13L	NM_015335.5(MED13L):c.6195dup:p.Gly2066fs	coding	Pathogenic
12	115975631	AT	A	T115975633G	MED13L	NM_015335.5(MED13L):c.5471del:p.Asn1824fs	coding	Pathogenic
12	115980748	A	AC	T115980751C	MED13L	NM_015335.5(MED13L):c.5364+1dup	noncoding	Pathogenic
12	115980865	A	ATGGAC	T115980872G	MED13L	NM_015335.5(MED13L):c.5244_5248dup:p.Met1750fs	coding	Pathogenic
12	115980954	C	CA	C115980965A	MED13L	NM_015335.5(MED13L):c.5176-17dup	noncoding	Benign
12	115982583	A	AG	T115982584G	MED13L	NM_015335.5(MED13L):c.4975_4976insC:p.Ile1659fs	coding	Pathogenic
12	115982673	CT	C	T115982674C	MED13L	NM_015335.5(MED13L):c.4956-71del	noncoding	Benign
12	115986328	CTGGAC	GGGAA	C115986328G	MED13L	NM_015335.5(MED13L):c.4271_4276delinsTTCCC:p.Cys1424fs	coding	Pathogenic
12	115987198	CGCTTCTTTTGGATG	C	T115987201A	MED13L	NM_015335.5(MED13L):c.4011_4024del:p.Ile1338fs	coding	Pathogenic
12	115991192	AAG	A	A115991195T	MED13L	NM_015335.5(MED13L):c.3760_3761del:p.Leu1254fs	coding	Pathogenic
12	115991644	GA	G	A115991646T	MED13L	NM_015335.5(MED13L):c.3309del:p.Glu1105fs	coding	Pathogenic
12	115997094	C	CATA	G115997098A	MED13L	NM_015335.5(MED13L):c.2703_2705dup:p.Pro901_Met902insIle	coding	Benign
12	116006329	AT	A	T116006330A	MED13L	NM_015335.5(MED13L):c.2320del:p.Ile774fs	coding	Pathogenic
12	116006331	AG	A	G116006332A	MED13L	NM_015335.5(MED13L):c.2318del:p.Ser773fs	coding	Pathogenic
12	116007645	CA	C	A116007665G	MED13L	NM_015335.5(MED13L):c.2013-10del	noncoding	Benign
12	116007645	C	CAAA	G116007666A	MED13L	NM_015335.5(MED13L):c.2013-29_2013-27dup	noncoding	Benign
12	116007645	C	CAA	G116007666A	MED13L	NM_015335.5(MED13L):c.2013-29_2013-28dup	noncoding	Benign
12	116007645	C	CA	G116007666A	MED13L	NM_015335.5(MED13L):c.2013-29dup	noncoding	Benign
12	116008385	CAG	C	A116008390C	MED13L	NM_015335.5(MED13L):c.2012+10CT[2]	noncoding	Benign/Likely_benign
12	116009007	G	GT	G116009012T	MED13L	NM_015335.5(MED13L):c.1405dup:p.Thr469fs	coding	Pathogenic
12	116014141	GACTATTCTAGAATCAATTCATTGGTCAATATTTAGTATGAAATTGCTAAAAGCTGGGTCCAAAGGACAGGTTTTAAATCTGTATAAAAACTTGGAACAGTAGTCACTTAAGAAACATTTCATTGGCTTCTAAATGAGGGAAGTTATTGGATTTTACTGACATGCATGTCCATATTCATTCTGTTTCAGAGAATCAAGACTCATTTGTCTACTTTCATTAGTCAAGAAAGCAGACATCTACTCATATTAAAACAGAGATGAAACTGTGCTGATTATGTTTACATAAATCTTGATAAGTGGAATAGTACTTATTGACTCCTGTTTGTCATTACTGTTTAGGCAATTAAAATAATCAGCAGCAGTCTTTTCTAAAAATCAATTCTCTCCTTTTCCAAAAGTATGTTAAAGAAGAAAGGCAGGGAGACTGGAAAGGAAGGAAAGTTAGGTCAGGGAAGAAAAGAACATAATTTTCTCAAATCAACAAACAGGAGCACGGCAGATAATAAACACCCCTCCAACTGTCATCAGTCTAGTTCAAAAATGTATTGTTAATTACAACTAAGGCCTGTATACAATAGTAAATCAGCAAGGAAGGTTCTTTCCCTTCACAATAGGGACGCATTCATACATTGATATGCAAGGAAAAACCAAACCCACTGGTTGCTGTCCTGATACCCATGGTGAATCCCTGTGCCAGCTGTGCTACAAAATATTAGGTCAACACCATGCCAATCTGTACAGTATCAGGAACTTCAAAAAGTTCCTCGATAATGAAATCAAGTACAGTAAATGTCTTGATTTTAACATATTTATTTCAAATTTTATTCTATTAAATTCAAAAAGATGAAATACCAATGATGACCTCTCAAGTTTGGTCACACAATAGTGCAATGTGATTGACATTTTCCAGGTAGCAATCAAGGAGATGGTTACTAAACTATGATCTAGACATAATCGAGAAAACTTACTTGGACTGGGTTCTGTTGAGGATGCATTCCTTCCAGACTCGATGGACCATATGATTGTGGAGTTTTGGAGGAATCTTCCCCGATCTCTTTGGACTGTGCATCGTTATCATCCCTCCATCTTGGGAAACCAGGTGACTGGCAGCACTCTGCATACCTCCACTCTCACCTGAAAAAAAAGGCAATTTGGAATGTTAGGATTTTCTGAAAAGGTTTCCTACTTCATAGACTGCTATCTTATTAACATAAATATGCATTTTAATTGTTGAAAGTCATATACATAGCTTTTTCCCTATCCCCTGGCAATAACACTATCTATAATCATGAGTAAAATTTCTATCAGAATGGATTTTTTTCCCTGGAACTCTGTCTGTATGATTCTTTGTTTTTTCCCTAAATCAATTAATCAGATGAACACTCACACAACCATAAGGGCACACACATACATAGGCACTCCTAGTCCACATGTATTGGAAACAACTTAGAAGCAAGGGTACATACATCACAATATTAAAGATGCAAACCTCCACTGATTGTTTTAGATTTTTAAATCTTAACACAGTCAATGAGTTTCAAGGCAAAAGGGAACAGTAGAGGGAGCTTTATACTCATGTAGCTAAATGGCTGTATATCAGCAGCACACAGTGCCCTGGGTAGGAAAAAGAAAGTAATGGCACAAAGCTTTTAACAAGGTCAAATTTCAAATTTGTGTGTGGTACTGTTTGTCCTTATGCCTGACACTATGTATTTAAAACTTAGTACTACGACACTGAAAGAGGTTGTCTTGACATTTTATTTCAGAGGATTAAAAATTCACTGGTTTCTCTCTAGTAACTCCACTTAGTTTTTTCAAATACAGTGGTTATAAATATAATCTATTTCTTTCAACTATGTTCATTATGATTATTGATGATACTGGTTGTTGTTTACATTTTGAGTATTTTACTACTTCTATCTTATATAAGACAAATACTAAAGTCAATTTCCAGTATTAAATTCTGATTGAATCACTTTCACCTATTTGACTTAGTAAGTATATATTATGGATTTTCTTCTCAATAGAACTATGATGCAAAACACCTTAACGAAAGTCAAGGTGAAAAAGAAAGAAGCAACTTTATAACACAAACTAAGTATTCTTATTATCAATGAAAGATGATGATGATACAAGCTGAATGGTCAGGCTTACGTCTATTTAAAAAAAAGACCCAAATGCTTATATTCTAAGGAAATGAAGCGCTCTTCTTTCCGATAAAAGTATTACTATATTACAAATGAGATAAGAAATTTGAACTTTGCTACATTTTAAAAGTTCCCAACTTGGTTCATGATGCAAAAGAATTAATTTCAATTTTACAATTGCTTTTCAAACACCAATTATAAAACTAGGCAAACTAAAGAAATAAACAGAAGTATGAAGTAGATAACATAGACCTTCTCTCCAAAACATCCTATGATATAGCTAAAGAGATCATATGCCCATGGTATCATAAAGAAACAATTTATGACCAAGAAAAGAAAAGAGTAGGGAGAAACAAGCCATAGAGACTTTTCTGACTAAAGCTAGGTTGAAGCTTTTCAGTGGCACTTAAATGACTGAACTAAAATCTGAGTGGTATCTTAGATGGAATTAAACAAGACTTGTTACTCCAATCTGTTAAAATGCATGTTGAATGTTGTTACTTGCAATTACCTCTACATATCAAACAAAGAGGCAAGTGGATATACCAATCCAAATAAGGTATGAGTAATGTCACTAATACTATTCGGCCCTCCTAAGCCCTCTGCTAATCAAGGAGAACCTTGGTGTTTTTTAGACGGCAAAGTAGCCCATTCTGTCCTATATCTAGAAAAATATGGCATTCAACTACAGAATGTCAAGGCTGACCGGGATACTCTCTGATACAGCATTAAGACTCCTAACCTGTAATTCAACATCCTATGATATGAAAATTTAGGCAAATTCATTTTACTACAAGGATATCGGCAGCTTTTGTTCAGTTGTGTGTGTTTGTTTTAAGGAATAAGGCGACATCAGGGGATTTATTTATCCAAGGCCTAACACAATAGCATACAGAGTTAAAGGGGAAGGAATTTGAAGATCCATAGTTAATTAGTCCACACTGAAATCCCCCATCAAAAAAAACCTCTTGTTTCTGAATTATGACTATTAAGAGTTCTGAACTGACCAGAGGTCAAAGCCTCATTTACACAGCAGGCCTTCAATTTTAAGTTGAATACAAATTTCACTAAGTACAAGGCAAAACAAAAACAAACAGATAACAAGTGGATAACTTAATGTAGTGCAATTGTTAAAAATCCAAATTGTGATGTGAAATTAAAAACTTCAAAATACTGATAATTCTAATTTTTATATTCATATATCTTCTCTATGATGATTACTACAAAAGACTATGAAAGTTCTTTTTTAGTTTAATATAGTTGATTGATGATAAATCCTTTCACAAGGAATCATCCAAATTCTCTGCTCTACCAAATGAAAGCCGCAAGTACTTTTTTATTTTTTTGAGATATGGTCTAGCTCCGTCGACCATGGTGGAGTGCACTGATGCTGTCTTGGCTCACGGCAACCTCCACCTCCAGGGCTCAAGCCATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGCATTTGTCACCATGCATAGCTCATTTTTGTATTTTTTGTAGAAACAGGATTCCACCATGTTGCCCAGGATGGTCTGAAACTCCTGAGCTCAAGCGATCCACCTGCCATGACTTTCCAAAATGATGGGATTACAGGCATGAGCCATCATGCCTGGCCTTGGATGTACTTTTCTTTTCTTCTTTTTTTTTTTTTAACCATCTCAGCAAATACATGGTTCTTAAAAACATACATGTCCATTTCTATGTCTCCCACAAAACATCTGAGTAATTACCTCCAGACAATGTGTGCTAAACTTCGAGTTTTGAATATTGCTTTAAATTATTGCTACCACTTGTATATGACTTTATTGTTTACCAAGCACTTGTATATATTACCTAGTATGTACAACAACACGGTAAAGTATGTATTTATCAGAAAAAATAACCAAGATTCAGAAAAACTACGAGAATTAAATAAGGTCACTCACCTTGTAAACGATATAGCCAGGTTTTACAACGAGGTGCGCTCAATCACAAAGTATATGCTTTTCCCCAATATCTTCTTTAACTATAAACATTTATTTAATGCCCACTAATTGCCAAGAATTGTGCTAGAAACTTTCAAATTTTGTCTTACTCTGGTAATTTTCATGAGGATTACGTATGTATCATGCTTGATAGTTTATTTTCAAAGTTTAGCAGCCAAGGCTTTATTTACTCTAATGTTCCTGCCAGCTTGGCCCACATTCAATGCTTATAAATAAATAATCTCATTTCGGCTCAAGTATGATGAGTATCCTTTCCATACTGACCACAGTTCTAATTAAAGTGAGGTCAACTACAACAATAACAAAGTTAATATAGGAACTATACTACTCAATAAAGAAGGCAAAAATGTTCCCAATTTAAACAATTTCTGAATTTTTCCATGAAGACAGGCAGTTCCAACTGTCAAAACTGTCCCATATAATTAATATTTATTATTAATGCAGACACTTTACTGACAGAGAAAAGTATTTATTCAGAGCTACTAAGCACTAGTCTAACTTTACATCTAACAGGGAAAAGAGTTGTTCAAGGCCTGTCCCTGGCTGACAATGGTCACCGGGGCAGAGGCTTCAGCTACTCTCTGATTTAGTATTCTTCAGTTGTTCAAAATTAAAAAAAAAAAAAACAAAAAAAAACCCTACATTTTATCTATATGTGAACACATACACACATACAGGGGCAGATGTGTGTGCAAACTTTAACAGAATCTAAACTATTTAATAACAATAAAGACTAATATGGACAGAGTTAAAATTCTGAAGTGTATGAATTCTGTTTGTTTATAGTTTTCCTTCTCCATTTTGTAATATCCTTACGTTACTCTACTACCTCCATCTCTTCCAACAGGAATTTCTGTTTTCTCACCTGTTCCATGGCAGGTAGACTATACAATTGTCTGAGATCTCTTCTCCCCAGGACACTCCTGGATCCTACTCACCTAGGATAGCCTGTTCTGGAGAGGTGGGAGGGGTCAGAGGCATCCCACAGTTACTTGGGTCCTTCACACTACCAAGCCCTTGCTGCCCAACTGCAATGTGGCCTCCAGCACTGGCAACACTCTGAGGAACCGGGATGTCATTCTGAGAGATCAAAACAAATGCTGAAGGGTAAACCATCCGAACACCACCTATAAGCAAAGAGAACAAGGAAAGAATCAGGACTGAGAAAGAATTCATACAAGACTTCCAATTTTATGATTCCAATGGTGAAAATGAGATGCTCATGAAGTACTGCCAAAAGTGATAGGCTCCATTCTTTCATAAGTTAATAGCTGTTTAAACATGTGTTCCAACATGATGATAAGAGCATTTGGAATACAAGGACCAAGGGTGCTTCAGGCAAGATAACTACTCAGTACATACCATTGTGTCAAGAGAATTTCTTTAAAAAGATGGGTATGGAGATTATTTCTGAAGAATCTAAATGATTATCTTTTTAAATTAAGGAAGAGGAAGAAGAATAAAGTTCTTCAGGCAAAATATTTTCTCTTACCAACAATTACTTCAACTGCCACAGGGAAATCATCATCATATCCCAACTCGTCTTCCTCTTT	G	A116014142C	MED13L	NM_015335.5(MED13L):c.760_1175+967del	noncoding	Pathogenic
12	116015172	T	TTTGG	A116015177T	MED13L	NM_015335.5(MED13L):c.1108_1111dup:p.Lys371fs	coding	Pathogenic
12	116022525	GCTGGGCAATCTCCAC	T	G116022525T	MED13L	NM_015335.5(MED13L):c.541_556delinsA:p.Val181_His186delinsAsn	coding	Pathogenic
12	116111503	T	TC	T116111505C	MED13L	NM_015335.5(MED13L):c.319dup:p.Glu107fs	coding	Pathogenic
12	116237713	A	AAG	C116237717G	MED13L	NM_015335.5(MED13L):c.73-10_73-9dup	noncoding	Benign/Likely_benign
12	119194705	TTAATAA	T	T119194724A	HSPB8	NM_014365.3(HSPB8):c.*848TAA[6]	noncoding	Benign
12	119194705	TTAA	T	T119194727A	HSPB8	NM_014365.3(HSPB8):c.*848TAA[7]	noncoding	Benign
12	119688269	A	AAGG	T119688278G	CIT	NM_001206999.2(CIT):c.6187-20CCT[3]	noncoding	Benign
12	119712141	T	TA	C119712143A	CIT	NM_001206999.2(CIT):c.4854+36dup	noncoding	Benign
12	119712657	GA	G	A119712659G	CIT	NM_001206999.2(CIT):c.4617del:p.Asp1541fs	coding	Pathogenic
12	119752249	T	TGA	C119752254G	CIT	NM_001206999.2(CIT):c.2707-6TC[3]	noncoding	Benign
12	119752254	C	CAG	A119752270G	CIT	NM_001206999.2(CIT):c.2707-21CT[8]	noncoding	Benign
12	119757550	TG	T	G119757555T	CIT	NM_001206999.2(CIT):c.2532-6del	noncoding	Benign
12	119758491	CA	C	A119758493T	CIT	NM_001206999.2(CIT):c.2531+99del	noncoding	Benign
12	119770529	TA	T	A119770544G	CIT	NM_001206999.2(CIT):c.2208+255del	noncoding	Benign
12	119773014	TA	T	A119773031G	CIT	NM_001206999.2(CIT):c.1942-105del	noncoding	Benign
12	119773014	T	TA	G119773032A	CIT	NM_001206999.2(CIT):c.1942-121dup	noncoding	Benign
12	119782847	A	AG	A119782851G	CIT	NM_001206999.2(CIT):c.1546-213dup	noncoding	Benign
12	119825540	TA	T	A119825555G	CIT	NM_001206999.2(CIT):c.754-173del	noncoding	Benign
12	120502294	G	GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAAATCGCGCCACTGAATTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAAGAAAATGACAAAAAATGAAAAAGAAAGACAACAGTAGACTATAACAAGGAGACAAGAAGTCTGCTCAGCTCCATCTCTGAGTACTGAAGGTTAGCTTACATCATTTTCAAACTTTTTTTTTTTTGCTATAAAACAAGTGTACTCTTACAAAAAAGCTCCCTATATAAGACATGAAAGCAGGATTTTGCTGGTACATTTATTTTCCAACAAGGACTTAGTGAAAAGGTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTATCACCCAGGATGGAGTGCAGTGGCACGATCTCGGCTCACTGCAATCTCTACCTCCTGGGTTCAAGTGATTCACCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCACACCATCATGCCCAGCTAATTTTTTGTATTTTTAGTGGAGACAGGATTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTACGTAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAACCTACATAGTAGCTTTTTATGGAAGAGGACTGAAAGAATGATGAAAAATATATTTTCTGGCCAGGCGCGGCCAACATGGTAAAATCCCTTATCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCACAAGGTGGAGGTTACGGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGGAAAACTCCATCTCGAAAAAAAAAAAAAAGTAAAAGAAAAATATATTTTCCTTACCCCCTTCAAGAAAAAATGACAAGTACCATCAAAAGGTAAACTCGTTTACTGGTTCAGCACACAATTCTCATGATCATTAATACTCTGACTTGGGCCTAGACTTCGTCCTAGGCTGAAAGGTTGATTCAGGTACAATTAAATTTTCTGGTTAAAAATTGTCATTGGGTTCAAATGATCTATCATCCCTCTAGAAGGCAGCACCAGCAGAGAAGCTATAAATACACTCACTTCAAAACTGAGCTTTAGGGGTGGTTGTACCTTAACCACACACCCTACAGCCAAGAGAAATTAGCAGTTGAGCAAAGATACAGACCAAATGCCTCTGGGAGATGGACTGAAGCAGCTCCAAAGAAAGCTGTAAAAAAGTGACAAGAATTTGTTCTTCCACTTTGAGACTGTTCGATTCAAACATGAGTCCAAGGCACGTATCCTTAAGAGGAGATGCTCTGCTGCTGTCTCATTTGCCAGATTATCCTTCAGTTCCAGGCTTTCAACAGGATATGACTGGTTCATGCTCCATGATAGGAAAGGAATTAAAGTTTGAAGCCAGAATGAATGGCCACAATGCCTGATGTTAGACTTTCGTAAGTCACCTTGTGAAAGCCTGCATCTTCTATCATGTCCTTGAACTCTTCCTGAAACACAAGGAAAGATGATAAAGCCAGGGTAGCCTGGATATCACTGTAGGGCCTTTGTTTAAAGCTATAGAAGTTTCATACCTGAGACGGAAACCTTCGGATACTCTCTACAAGGTACTGATAGGACTTCCAGTCTCCAGCGATGACCTCTCCCAGGACAGGGATGACCTGGAAGCTATATAGATCATAAAGCCTAGGCAAACAAAAAGGTAAAAGATGAAGATTAGAACATGCCCCTCACTTCTTCCCTAGATAAGAAGAAAGAAGGACTAAACCTGGGGTCACAAACTCAAATGCCTATAGGGATCAAGCAAGAACCTGAATTAAGTGGGTCAGGTACAAGACCAGTAGAAGTGCTGACAGGTACAGTTAGGAAGTATTATGAAGTGGAGAAGGGACAGTTACTACTCAGACCTCCCTGTGGCATGTGGGGAGATAGGCCTACCCAGGGCTGCCATGTATCTGATTTCTCAAGTGAAGCTGGAAATTCAGATTTTTATGGAAAATTTCCTGATTTAAATTTTTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTCTCACGGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACTGCACTTGGCCCAAATTTCCTGATTTTTTTTTTTTTAAGCCAGTCAAATTTATCAGAGGGGGGTTGAGTAGCAACGTTATTGCCACTAATAAGTTCTGATAACCCACTACCATTGGACCAGGCATTTCCTGATTTTTAAATAGGGGCTTCTAAGTCAATTTCTTAATATACATATGTAAGCCAACTTGGGTCTGGTTTGAGACTCTTGTGGCCTAGGTATTGTCATTCAGAACTGGCTGACCTCTGGTACTCTGAACTACAAAGTTCATGCTTATAGCTTACTGGCTATTTTCAATCCATTTCGGGGTGGGAAACCTTGGCTATACAATGAAGATAAAGCCCTATTAACAATGCCAACCTGGATATGAGGGGATTGTTCACTTGGCTAAATTCCAGACAGAGAAACCGTCCTCCTGGTTTCAGCACCCGATGAGCTTCCTGGAGTGCCTGAGCAAGACAAGGAACAACAGGACACACTCCTCAGTAGACCTCACTCAATTCCATGAGGCCAAGACAGCTTTAGCTTCTGCAGGCATTAAAAAAGTTATCATGGCCCACAAACCTCTTGTTTGTTCTCACTTGGGAAGCTGTAACAGCAGCAATAACCCTACGTATCCCAAATGCTATAGGCATTCTGCTGCCGGTGACTAGACAAAGTTAGCTGGGGTAATCTAAACTGACTACAGATTGGTACAATTGCATGAAGGGTAAGTTTAGAGTTACCTTTCAAAATCACAATGGATATCCTCTCTGATAAAGCAATTTTACTTCAAGGAATCTAGCTTACAGAAATGCTTCTACTGTGGGAATGACATGTACGTGGGTTATTCACTTTTTTTTTTATTTTTTATTTTTTATTTTTATTTTTTGCAATGGAGCCTTGCTCTGTCGCCCAGACTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCGCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAACTACAGGTGCCTGCCACCACGCCCCGCTAATTTTTTGTTTGTTTGTTTTTGAGGTGGAATTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCCACCTCTCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGCACGTACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACATTGGTCAGGCTTGTCTCGAACTCCCAATATCAGGTGGTCTGCCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCTATTTGTTTGTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGACTCCCAGGTAGCTGGGATTACAGGAATGCACCACCACACCCAACTAATTTTGTGTTTTTAGTAGAAAAAGGGTTTCACCATGTTGGCCAGGCCAGTCTTGAACTCCTGGCCTGAAGTGATCCACTCGTCTCGGCCTCACAAGGTGCTAGGATTACAGGTGTGAGCCACCATGCCTGGCCGGTTATTCACTTTTAAATAAAAAGTATAGGAAGCCATTGTTTTGGATTGTTTCTGCACTAGGTTCCAACAGACCAGACTAAGAATCAAGATGGAGTCACCCAACTTTTGACTCCATAGTTCCACATCACCAAACTGAAACTAAGTTGTCAGCTGACCTTCTAGAGAGATCAGGAGAAAGAGATACAGTCAATTTCTCCAACACTCCTGTTTAAAATTTTTTTTTTTTTTTTAGACAGAGTCTCGCTCTGTCACCCAGTCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCATGTTGCTGGGACTACAGGTACATGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTAGAGACTTCAGGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTAGGATTACAGACTTGGGCCACCACGCCCAGCCTATTTTTTTTATTATTCTGCCTCCCTATCACAGCCTTTCAAGAAAAGTAGTTTTGAAAGGATGAATAATACACTCTTTGTTCTTTGCTTCTCTGCTTTCTTCAGTCTTTCTGTGTCTATAAAGCCAATGTCTTCTGCTCAACTCATTGGGATGCATTCTATTTTTATTTATTTTTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCACAATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCTACTGTGCCCAGCACATTCTATTTTATGAAATGAAGTCATTTTAAAATTTGCTGTTCAAACAGTTGTCAAAAGACAAGTGTTTGAATAGCACAAGATTAGAAGCATCTTTAACGATTAATAAGAGACTAAATTATGAAATATAAATATAAATGGAATCTATTCAACTTATTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAACTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTATCTGGGACTATAGGCACGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTCTATTCAACTATTTTAAAAAGTGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGTCGGGCATGGTGGTGCATGCCTATAACCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCCAGATCTCTCCACTGCACTCTAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAATAATAATAATAATAAAATAAAAAAATAAAAAGAGCCAGTGCTCTTTATGTACTTACAAGGAAAAATCTCCAAGAAATATTTGTTTACTTTTATTCTATCCATCTATCTATTTATTTATTTTTGAGGTGGAGTCTCACTCTGTCGCCCAGGCGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGGGATTTTCCCAACTCAGCCTCCCAAGTAGCTGGGACTACAGGTTCGTGCCGCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCTAAAGAGTTGGGAGGCCAGCCTGGAGGCCTCCAAAGAGTTCAAGACCAGCTGAGGTTGAACTCTCAACTGGCTGCAGTGAGCTGAGATCACGTTACTGTACTCCAGCCTGGGTGACAGAGTGAGAGTCCGTCTCCAAACAAAAAAAAAGGAAAAAGAAAGAAAATAGTATATACACCTTGGCACAAAACATCACAAACACTTGTCTAAGGTTAGTCAGTAAACAAATGATCGAATCCATGCAAAAATTACAAATAAGGATGTCACAAAGTTGTGCTACATGCAAAACATAGGAAAAAAAAGAAATATCAATTGGTTATTAGTTATGTGAATCATAACCAATTCACAAAACATCTTGACAAAGATACACAAGAAGCTGGTGACTGTCTGAAGGGAGAAGCACTGAATGGGAGAGGAGGCAAGGATGGGAGGGAGATTGTCACATATAACCTTTTGTGCCTTTTGAACTTTGAACCTATTAAAAAATTTTTTTCCCCAGGCGTGGTGGCTCACGACTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCATGAGGTCAAGAGACAGAGACCATCCTGGCCAACATAGTGAAATGCCGTCTCTACTGATAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCCGGAGGCTGACGCAGGAGAATTGCTTGAACCCAGGAGACAGAGGTTGTAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGTTTTCATTCAACAAAATAATAAACTGGCTACTGACATAGGAAAGGTGATGCAAACCAAGCTGATGAACACCATAAAGAACTTACCACTTAACCAGAGGACCCAGGCAACCAGAGACCATGTTACTGAAATGAAACTCTTTGCCTTGCACATGGTCTTCAAGTGTTTTGAACAGAATATTAAAGTAGGAATAAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGGGTTCGAGATCAACCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAATAAAGTAGGAACAAAGAAGAGCTCCATCAGATTAAGAGCTGAACGTTCCCCTTTTCCTGTAGAAAAGCCATGAATCCAGCTATCTTTTGTCAAAACAGTGTTTGAGGGCCCTTGTCTTTGTCAGCCTCTGACATGTCTCTGATTTTCTGCAAATTCACAGGGTCAGGCAGCTTCACAAGTATGAGGAAATACACAAAAGGCCAGAGCAAGACAAATCCCAAAGATGTGAATACCAATCCAAGTAAGACAGACTTCTATGGAGATCAGCTCTGTGGTTTCAGTCTTTTTCAATTTTGTGACTAGAAAATTTGTCAACTTAAAGGATGGAGGACCCTAAACTTCAAACAGGCATTCCACTCAAGCGCCAAGCCCTTAAACATTATCTTTTTTAAGATTAAAAAAAAAATCTATCTATCTCTCTCTCTCTCTCTCTCCCTGGGTGTGGTGGTGGGTTCCTGTAAGGTTCCTGTAATCCCAGCTACTTGGGAGGCAGATGTGGAAGGACTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATACCAAGACCCCATCTCAAAAAACAAAACTCTCCTTCTTTCCTCACTCACTGTAGCTCTACAACAGAGGTAATTTCCTGAGAGTCATACAAGCTGAGGATGCAGCCATTCATACCTGATCAATGTGTGTGACATTCCGGATCCCAAAGGCAATGGTGTAAATATCAAACTTGTCATCATCAAAGGGCAGTTCTTCAGCATCTCCTAATACCCATGCAAGTCCTGAAAGAGAAAGTGAGTTCCGGGTCTCAGTGTGGGTAGCTGTTTTTCCTGCCCCCAGTGAATTCATTTCATGTAGAGCATTGAGCTGGAGAGCCCAAGTCCTGGGTGGTTAGGCTGCCTGGATTCTAATCCCAGCTTCACCATATTCCTTATATATACATATTTTTCCTTTTATATTTTTAATCAATCATTATTATTTTTTTTAGACATGGGGAGGTCTTGCTTTCTCACCCAGGCTGGAGTACAGTGGCACACAGCTCACTGCATCCTCAAACTCCTGGACTCAAAGGATCCTCCTGCCTTAGTATCCCCAGTAGTTGGGACTATAGGCACACACCACCCTGCCCAGCTAGTTTTTAAAAATTTCTTCTGTAGAGACGAGGTCTCGTCATCTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGATGTGAGCCACTGTGCCTGGCCTGTGTATTCTTGAATAAACTACTTTGTCTGTTTCCTCATCTGTAAAATGGAGTTAAAAACTAGTGCCTACTCTATAGGGTTACTAAAAGTATTAACTGAGTTACTCTAAGTACAGAATTTAGCAGAGTTTTACTGGTTTTATTGGAATCATAGAGCATCAGCGTGTCTAGGTCTGAGATTCAGAGATCACCAGAGGCCCCTATCAGGGTGGCTGTGTCCTCCAAGGATCTTGATTAGACTTTAACATTATACAACCTACAGCGAATTAGATGTAAAATACAAAAAGAAGACTGTATAGAGGAAGGTAAATGAAAATAACCTTTCTGGAAAGCAAATTAACAGTATCTAACAAGGGCCTTAAAAATAAGTACACCTGGCCAGGTGCGGTGGCTCACGCCTGAAATCCCAGCATTTTGGGAAGCTGAGGGAGGCAGATCACGAGGTCAGGAGATCGAAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCATGCACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAATTCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAGTATGCCTTTTGACCCAGTGATTTGATTTTTAGGGAAAGGACATTGACATCATCATCACAGCTACTGCTTAGAGGGCCCTTATCAAGTGGCAGGGTCTGTGTTATTTTATGTACATCTTTAGATAGATTATCTTAGTATATCCTCATACCAACTCTGTGAGAGAGTTACTACCATTATCCTCATGTTTCAGGTCAGCAAAGTGAACATCAGAAAGGTTTAAAGTCTGAGCTGAGCACGGTGGCATGCACCTGTAATCCCAGAGACTCAGGAGGCTGAGGTGGGAGGAGAGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGCAAGACCATATCTCGAAAAAATAAAAAGCAAAAAGAGAAAGGTTGCTTGCCCAAGGTCACACAGATGGACTGGAACCCAGAGCCTATGTTTTCAACAGCTATGGCATATCACCTCCTAGTACGAAGTAGTTATTAGAGTTTAAACACTTGACTAAGGTTATACAGTCAGTAAACGAATGAATCCATGCAAAAATTACAAATAAGAATGTCACAAAGTTGTGCTACATGCAAAACATTGGGGAAAAAAAGAATTCTCAATTGGTTATTGGTTATATGAAT	C120511885G	COQ5	NC_000012.11:g.120940098_120949687dup	noncoding	Pathogenic
12	120737355	GTC	G	C120737361A	ACADS	NM_000017.4(ACADS):c.362_363CT[2]:p.Tyr123fs	noncoding	Pathogenic
12	120737853	AGGAGCTGCGTCCACCACCGCCC	A	A120737856G	ACADS	NM_000017.4(ACADS):c.492_513del:p.Ala165fs	coding	Pathogenic
12	120738875	GC	AT	G120738875A	ACADS	NM_000017.4(ACADS):c.989_990delinsAT:p.Arg330His	coding	Pathogenic/Likely_pathogenic
12	120739000	G	GC	G120739005C	ACADS	NM_000017.4(ACADS):c.1029+89dup	noncoding	Benign
12	120978597	A	AGGGTTGG	G120978616T	HNF1A	NM_000545.8(HNF1A):c.-167TGGGGGT[3]	noncoding	Benign
12	120978643	TG	T	G120978650C	HNF1A	NM_000545.8(HNF1A):c.-119del	noncoding	Pathogenic
12	120978810	GGCCCTGCTC	TG	G120978810T	HNF1A	NM_000545.8(HNF1A):c.42_51delinsTG:p.Ala15fs	coding	Pathogenic
12	120978836	AAG	A	A120978839G	HNF1A	NM_000545.8(HNF1A):c.71_72del:p.Glu24fs	coding	Pathogenic
12	120978872	CCTACCTCCTGG	C	A120978875G	HNF1A	NM_000545.8(HNF1A):c.107_117del:p.Tyr36fs	coding	Pathogenic
12	120978897	CC	A	C120978897A	HNF1A	NM_000545.8(HNF1A):c.129_130delinsA:p.Leu44fs	coding	Pathogenic
12	120978923	GC	CT	G120978923C	HNF1A	NM_000545.8(HNF1A):c.155_156delinsCT:p.Gly52Ala	coding	Benign
12	120978928	CGAGGG	C	G120978932C	HNF1A	NM_000545.8(HNF1A):c.164_168del:p.Gly55fs	coding	Pathogenic
12	120978951	CA	C	A120978953T	HNF1A	NM_000545.8(HNF1A):c.185del:p.Asn62fs	coding	Pathogenic
12	120978959	T	TG	A120978965G	HNF1A	NM_000545.8(HNF1A):c.196dup:p.Glu66fs	coding	Pathogenic
12	120988909	GA	G	A120988910T	HNF1A	NM_000545.8(HNF1A):c.404del:p.Asp135fs	coding	Pathogenic
12	120988981	CG	C	G120988984C	HNF1A	NM_000545.8(HNF1A):c.478del:p.Ala160fs	coding	Pathogenic
12	120993568	AT	A	T120993569G	HNF1A	NM_000545.8(HNF1A):c.576del:p.Asp192fs	coding	Pathogenic
12	120993574	TACCA	T	C120993580G	HNF1A	NM_000545.8(HNF1A):c.587_590del:p.Thr196fs	coding	Pathogenic
12	120994278	CT	C	T120994280C	HNF1A	NM_000545.8(HNF1A):c.830del:p.Phe277fs	coding	Pathogenic
12	120994313	G	GC	G120994314C	HNF1A	NM_000545.8(HNF1A):c.863_864insC:p.Pro289fs	coding	Pathogenic
12	120994316	CC	T	C120994316T	HNF1A	NM_000545.8(HNF1A):c.866_867delinsT:p.Pro289fs	coding	Pathogenic
12	120994323	AG	A	G120994326C	HNF1A	NM_000545.8(HNF1A):c.876del:p.Pro293fs	coding	Pathogenic
12	120994349	CC	TCCCCTG	C120994349T	HNF1A	NM_000545.8(HNF1A):c.899_900delinsTCCCCTG:p.Pro300fs	coding	Pathogenic
12	120996326	CT	C	T120996328A	HNF1A	NM_000545.8(HNF1A):c.1022del:p.Pro340_Leu341insTer	coding	Pathogenic
12	120996348	C	CT	C120996350T	HNF1A	NM_000545.8(HNF1A):c.1043dup:p.His349fs	coding	Pathogenic
12	120996383	C	CCA	G120996388C	HNF1A	NM_000545.8(HNF1A):c.1080_1081dup:p.Ser361fs	coding	Pathogenic
12	120996557	GC	G	C120996562T	HNF1A	NM_000545.8(HNF1A):c.1129del:p.Leu377fs	coding	Pathogenic
12	120996569	C	CT	G120996571T	HNF1A	NM_000545.8(HNF1A):c.1137dup:p.Val380fs	coding	Pathogenic
12	120996579	CCTGACAGCACT	C	C120996580G	HNF1A	NM_000545.8(HNF1A):c.1147_1157del:p.Leu383fs	coding	Pathogenic
12	120996626	AGC	GGT	A120996626G	HNF1A	NM_000545.8(HNF1A):c.1193_1195delinsGGT:p.Gln398_Gln399delinsArgTer	coding	Pathogenic/Likely_pathogenic
12	120996922	C	CA	T120996927A	HNF1A	NM_000545.8(HNF1A):c.1309+184dup	noncoding	Benign
12	120997494	CAG	C	A120997497T	HNF1A	NM_000545.8(HNF1A):c.1333_1334del:p.Ser445fs	coding	Pathogenic
12	120997617	AC	A	C120997620A	HNF1A	NM_000545.8(HNF1A):c.1456del:p.Gln486fs	coding	Pathogenic
12	120997623	AGCCCCTTCATG	A	C120997627A	HNF1A	NM_000545.8(HNF1A):c.1463_1473del:p.Pro488fs	coding	Pathogenic/Likely_pathogenic
12	120997647	CAGCTGCAG	C	T120997651C	HNF1A	NM_000545.8(HNF1A):c.1487_1494del:p.Leu496fs	coding	Pathogenic
12	120999499	CTG	C	T120999500A	HNF1A	NM_000545.8(HNF1A):c.1641_1642del:p.Glu548fs	coding	Pathogenic
12	120999576	GC	G	C120999578A	HNF1A	NM_000545.8(HNF1A):c.1719del:p.Ser574fs	coding	Pathogenic
12	120999688	AC	A	C120999692T	HNF1A	NM_000545.8(HNF1A):c.1768+65del	noncoding	Benign
12	121000906	G	GTT	A121000907T	HNF1A	NM_022895.3(C12orf43):c.*3246_*3247insAA	noncoding	Benign
12	121001115	CAG	C	A121001118C	HNF1A	NM_000545.8(HNF1A):c.1822_1823del:p.Ser608fs	coding	Pathogenic
12	121626872	C	CCCCG	A121626879C	ORAI1	NM_032790.3(ORAI1):c.128_131dup:p.Pro45fs	coding	Benign
12	121640731	A	AAAAAGAAAAG	T121640751G	ORAI1	NM_032790.3(ORAI1):c.309-309AAAAG[5]	noncoding	Benign
12	121805847	T	TACGTGGGA	C121805855A	SETD1B	NM_001353345.2(SETD1B):c.293_294insAACGTGGG:p.Pro99fs	coding	Pathogenic
12	121806041	C	CT	G121806042T	SETD1B	NM_001353345.2(SETD1B):c.480_481insT:p.Val161fs	coding	Pathogenic
12	121809988	GTTCCTCGGACCTC	G	T121809989C	SETD1B	NM_001353345.2(SETD1B):c.1044_1056del:p.Ser349fs	coding	Pathogenic
12	121810310	G	GC	G121810317C	SETD1B	NM_001353345.2(SETD1B):c.1371dup:p.Asp458fs	coding	Pathogenic
12	121823142	GC	G	C121823146G	SETD1B	NM_001353345.2(SETD1B):c.4567del:p.Arg1523fs	coding	Pathogenic
12	121839942	TG	T	G121839944C	HPD	NM_002150.3(HPD):c.1060del:p.His354fs	coding	Pathogenic
12	121849226	CT	C	T121849234G	HPD	NM_002150.3(HPD):c.519-151del	noncoding	Benign
12	121849741	TG	T	G121849743C	HPD	NM_002150.3(HPD):c.463del:p.Gln155fs	coding	Pathogenic
12	121856618	AAC	A	C121856622A	HPD	NM_002150.3(HPD):c.204_205del:p.Phe69fs	coding	Pathogenic
12	121858054	AG	A	G121858057A	HPD	NM_002150.3(HPD):c.31-236del	noncoding	Benign
12	121858731	GA	G	A121858732C	HPD	NM_002150.3(HPD):c.4-19del	noncoding	Benign
12	122208118	T	TA	T122208127A	DIABLO	NM_001371333.1(DIABLO):c.*262dup	noncoding	Benign
12	122217979	TA	T	A122217994G	DIABLO	NM_001371333.1(DIABLO):c.315+286del	noncoding	Benign
12	122217979	T	TAA	G122217995A	DIABLO	NM_001371333.1(DIABLO):c.315+272_315+273dup	noncoding	Benign
12	122226222	CT	C	T122226224C	DIABLO	NR_024600.1(DIABLO):n.596delA	noncoding	Benign
12	122226363	A	AGGGAGGCGGGGCCGGGC	C122226416G	DIABLO	NR_024600.1(DIABLO):n.405_421CGCCCGGCCCCGCCTCC[4]	noncoding	Benign
12	122226363	A	AGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGC	C122226416G	DIABLO	NR_024600.1(DIABLO):n.405_421CGCCCGGCCCCGCCTCC[5]	noncoding	Benign
12	122226363	AGGGAGGCGGGGCCGGGC	A	G122226399C	DIABLO	NR_024600.1(DIABLO):n.405_421CGCCCGGCCCCGCCTCC[2]	noncoding	Benign
12	122232061	GA	G	A122232072G	VPS33A	NM_022916.6(VPS33A):c.*184del	noncoding	Benign
12	122232578	AT	A	T122232587A	VPS33A	NM_022916.6(VPS33A):c.1610-152del	noncoding	Benign
12	122233228	CT	C	T122233243G	VPS33A	NM_022916.6(VPS33A):c.1441-261del	noncoding	Benign
12	122238770	TACACAC	T	C122238802A	VPS33A	NM_022916.6(VPS33A):c.1165-82GT[15]	noncoding	Benign
12	122238770	T	TAC	A122238808C	VPS33A	NM_022916.6(VPS33A):c.1165-82GT[19]	noncoding	Benign
12	122238770	T	TACAC	A122238808C	VPS33A	NM_022916.6(VPS33A):c.1165-82GT[20]	noncoding	Benign
12	122238770	T	TACACACACAC	A122238808C	VPS33A	NM_022916.6(VPS33A):c.1165-82GT[23]	noncoding	Benign
12	122238996	TACACACACAC	T	A122239013C	VPS33A	NM_022916.6(VPS33A):c.1165-298GT[8]	noncoding	Benign
12	122238996	TACAC	T	A122239019C	VPS33A	NM_022916.6(VPS33A):c.1165-298GT[11]	noncoding	Benign
12	122238996	TAC	T	A122239021C	VPS33A	NM_022916.6(VPS33A):c.1165-298GT[12]	noncoding	Benign
12	122239745	GTC	G	T122239748A	VPS33A	NM_022916.6(VPS33A):c.1164+131_1164+132del	noncoding	Benign
12	122266132	G	GC	T122266141C	VPS33A	NM_022916.6(VPS33A):c.102+167dup	noncoding	Benign
12	122266808	CA	C	A122266824G	VPS33A	Single_allele	noncoding	Benign
12	122274172	T	TA	T122274183A	CLIP1	NM_001247997.2(CLIP1):c.3967-11dup	noncoding	Benign
12	123670790	A	AACTCCAGTTTTTGAGCCGGACACGC	T123670821A	TCTN2	Single_allele	noncoding	Benign
12	123686843	CA	C	A123686844T	TCTN2	NM_024809.5(TCTN2):c.573del:p.Ser192fs	coding	Pathogenic
12	123686942	CG	C	G123686943A	TCTN2	NM_024809.5(TCTN2):c.672del:p.Thr225fs	coding	Pathogenic
12	123688213	C	CT	A123688232T	TCTN2	NM_024809.5(TCTN2):c.891+54dup	noncoding	Benign
12	123688213	CT	C	T123688231A	TCTN2	NM_024809.5(TCTN2):c.891+54del	noncoding	Benign
12	123688213	CTT	C	T123688230A	TCTN2	NM_024809.5(TCTN2):c.891+53_891+54del	noncoding	Benign
12	123695231	CAG	C	G123695235T	TCTN2	NM_024809.5(TCTN2):c.1250_1251del:p.Arg417fs	coding	Pathogenic
12	123696174	AT	A	T123696186A	TCTN2	NM_024809.5(TCTN2):c.1313-229del	noncoding	Benign
12	123696252	GT	G	T123696260G	TCTN2	NM_024809.5(TCTN2):c.1313-155del	noncoding	Benign
12	123699497	TA	T	A123699498T	TCTN2	NM_024809.5(TCTN2):c.1506-206del	noncoding	Benign
12	123706826	GCA	G	C123706829G	TCTN2	NM_024809.5(TCTN2):c.1873_1874del:p.Gln625fs	coding	Pathogenic
12	123706843	CCT	C	C123706844G	TCTN2	NM_024809.5(TCTN2):c.1888_1889del:p.Leu630fs	coding	Pathogenic
12	123712301	CG	C	G123712309C	ATP6V0A2	Single_allele	noncoding	Benign
12	123718697	AT	A	T123718699G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.194del:p.Leu65fs	coding	Pathogenic
12	123718867	A	AT	A123718875T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.196+173dup	noncoding	Benign
12	123727767	CT	C	T123727770A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.522-13del	noncoding	Benign/Likely_benign
12	123727794	GC	G	C123727796T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.535del:p.Gly178_Leu179insTer	coding	Pathogenic
12	123737234	AT	A	T123737235C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1002del:p.Leu335fs	coding	Pathogenic
12	123747736	AT	A	T123747745A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1724+20del	noncoding	Benign/Likely_benign
12	123754472	G	GTCTGGGATGCATCTCCAACACCGCC	C123754500T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2231_2255dup:p.Tyr753fs	coding	Pathogenic
12	123754701	ATTTC	A	C123754705T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2293+168_2293+171del	noncoding	Benign
12	123757843	A	AT	A123757855T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2466-73dup	noncoding	Benign
12	123757911	C	CT	A123757925T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2466-3dup	noncoding	Benign/Likely_benign
12	123870455	G	GC	G123870461C	DNAH10	NM_001372106.1(DNAH10):c.7614dup:p.Glu2539fs	coding	Pathogenic
12	123929735	CA	C	A123929736G	DNAH10	NM_001372106.1(DNAH10):c.12589del:p.Ser4197fs	coding	Pathogenic
12	124794978	TG	T	G124794982A	SCARB1	NM_005505.5(SCARB1):c.1202+216del	noncoding	Benign
12	124795421	TG	T	G124795429T	SCARB1	NM_005505.5(SCARB1):c.1129-154del	noncoding	Benign
12	124795421	T	TG	T124795430G	SCARB1	NM_005505.5(SCARB1):c.1129-161dup	noncoding	Benign
12	131941282	TC	T	C131941288T	PUS1	NM_025215.6(PUS1):c.545-4del	noncoding	Benign
12	131941675	CCT	C	C131941676G	PUS1	NM_025215.6(PUS1):c.929_930del:p.Pro310fs	coding	Pathogenic
12	132620702	GA	G	A132620706G	P2RX2	NM_170682.4(P2RX2):c.774+123del	noncoding	Benign
12	132620863	AGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTG	A	T132620908C	P2RX2	NM_170682.4(P2RX2):c.775-93_775-33del	noncoding	Benign
12	132620921	CCTGGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTCCTGACCCCCTTCT	C	C132620927T	P2RX2	NM_170682.4(P2RX2):c.775-74_775-14del	noncoding	Benign
12	132626613	CCT	C	C132626614G	POLE	NM_006231.4(POLE):c.6331-298_6331-297del	noncoding	Benign
12	132634659	AC	A	C132634665A	POLE	NM_006231.4(POLE):c.5812-282del	noncoding	Benign
12	132639538	T	TCCCTCAACACAA	A132639542T	POLE	NM_006231.4(POLE):c.5379-241_5379-240insGGGTTGTGTTGA	noncoding	Benign
12	132642741	C	CA	T132642746A	POLE	NM_006231.4(POLE):c.4729-16dup	noncoding	Benign/Likely_benign
12	132657803	CAT	C	A132657806T	POLE	NM_006231.4(POLE):c.3378+63_3378+64del	noncoding	Benign
12	132659279	T	TG	A132659286G	POLE	NM_006231.4(POLE):c.3275+15dup	noncoding	Benign
12	132663852	C	CT	C132663854T	POLE	NM_006231.4(POLE):c.2706+151dup	noncoding	Benign
12	132663991	G	GC	A132663996C	POLE	NM_006231.4(POLE):c.2706+9dup	noncoding	Benign/Likely_benign
12	132665439	CT	C	T132665444C	POLE	NM_006231.4(POLE):c.2330del:p.Lys777fs	coding	Pathogenic
12	132668082	CA	C	A132668093G	POLE	NM_006231.4(POLE):c.2173+273del	noncoding	Benign
12	132672475	GC	G	C132672480G	POLE	NM_006231.4(POLE):c.1686+151del	noncoding	Benign
12	132681343	C	CT	C132681352T	POLE	NM_006231.4(POLE):c.63-72dup	noncoding	Benign
12	132681343	CT	C	T132681351C	POLE	NM_006231.4(POLE):c.63-65del	noncoding	Benign
12	132681352	C	CT	G132681362T	POLE	NM_006231.4(POLE):c.63-82dup	noncoding	Benign
12	132715093	A	ATCC	T132715096C	PGAM5	NM_001170543.2(PGAM5):c.370+59_370+60insCTC	noncoding	Benign
12	132718636	G	GT	G132718637T	PGAM5	NM_001170543.2(PGAM5):c.719+516_719+517insT	noncoding	Benign
12	132727559	AC	A	C132727560T	ANKLE2	NM_015114.3(ANKLE2):c.2616-117del	noncoding	Benign
12	132735752	TG	T	G132735753A	ANKLE2	NM_015114.3(ANKLE2):c.1594-241del	noncoding	Benign
12	132743348	T	TACTC	T132743350C	ANKLE2	NM_015114.3(ANKLE2):c.1231-73_1231-72insTGAG	noncoding	Benign
12	132747799	TAAAG	T	A132747804C	ANKLE2	NM_015114.3(ANKLE2):c.1230+29_1230+32del	noncoding	Benign
13	19993837	A	AGT	A19993840G	ZMYM2	NM_197968.4(ZMYM2):c.766_767dup:p.Val256_Gly257insTer	coding	Pathogenic/Likely_pathogenic
13	20003096	AC	A	C20003097A	ZMYM2	NM_197968.4(ZMYM2):c.1095del:p.His365fs	coding	Pathogenic
13	20026633	TG	T	G20026634T	ZMYM2	NM_197968.4(ZMYM2):c.1607del:p.Cys536fs	coding	Pathogenic/Likely_pathogenic
13	20031322	C	CT	A20031324T	ZMYM2	NM_197968.4(ZMYM2):c.1856dup:p.Ser620fs	coding	Pathogenic
13	20051571	CAGAA	C	A20051574G	ZMYM2	NM_197968.4(ZMYM2):c.2434_2437del:p.Lys812fs	coding	Pathogenic/Likely_pathogenic
13	20061145	T	TG	C20061147G	ZMYM2	NM_197968.4(ZMYM2):c.2833dup:p.Ala945fs	coding	Pathogenic
13	20064536	T	TAA	G20064545A	ZMYM2	NM_197968.4(ZMYM2):c.3130_3131dup:p.Gly1045fs	coding	Pathogenic/Likely_pathogenic
13	20067248	T	TA	G20067252A	ZMYM2	NM_197968.4(ZMYM2):c.3314dup:p.Leu1106fs	coding	Pathogenic
13	20082090	TA	T	A20082094T	ZMYM2	NM_197968.4(ZMYM2):c.3532del:p.Ile1178fs	coding	Pathogenic
13	20188957	CA	C	A20188958G	GJB2	NM_004004.6(GJB2):c.624del:p.Glu209fs	coding	Pathogenic
13	20189067	CA	C	A20189068G	GJB2	NM_004004.6(GJB2):c.514del:p.Trp172fs	coding	Pathogenic/Likely_pathogenic
13	20189132	GA	G	A20189134G	GJB2	NM_004004.6(GJB2):c.449del:p.Phe150fs	coding	Pathogenic
13	20189174	G	GT	A20189176T	GJB2	NM_004004.6(GJB2):c.407dup:p.Tyr136Ter	coding	Pathogenic
13	20189179	TC	T	C20189181A	GJB2	NM_004004.6(GJB2):c.402del:p.Trp133_Trp134insTer	coding	Pathogenic
13	20189283	TG	T	G20189284T	GJB2	NM_004004.6(GJB2):c.298del:p.His100fs	coding	Pathogenic/Likely_pathogenic
13	20189313	AG	A	G20189315A	GJB2	NM_004004.6(GJB2):c.268del:p.Leu89_Leu90insTer	coding	Pathogenic
13	20189381	G	GT	G20189383T	GJB2	NM_004004.6(GJB2):c.200dup:p.His67fs	coding	Pathogenic
13	20189500	GGAC	TCT	G20189500T	GJB2	NM_004004.6(GJB2):c.79_82delinsAGA:p.Val27fs	coding	Pathogenic
13	20189505	GT	G	T20189506G	GJB2	NM_004004.6(GJB2):c.76del:p.Thr26fs	coding	Pathogenic
13	20189518	TTCCAATGCTGG	T	C20189520G	GJB2	NM_004004.6(GJB2):c.53_63del:p.Thr18fs	coding	Pathogenic
13	20189540	G	GT	C20189543T	GJB2	NM_004004.6(GJB2):c.41dup:p.Asn14fs	coding	Pathogenic
13	20189553	AG	A	G20189555A	GJB2	NM_004004.6(GJB2):c.28del:p.Leu10fs	coding	Pathogenic
13	20229315	A	AT	A20229347T	GJB6	NM_001110219.3(GJB6):c.-16+234dup	noncoding	Benign
13	20229315	AT	A	T20229346A	GJB6	NM_001110219.3(GJB6):c.-16+264del	noncoding	Benign
13	20229315	ATTT	A	T20229344A	GJB6	NM_001110219.3(GJB6):c.-16+262_-16+264del	noncoding	Benign
13	20229315	ATTTT	A	T20229343A	GJB6	NM_001110219.3(GJB6):c.-16+261_-16+264del	noncoding	Benign
13	20229315	ATTTTTTTTT	A	T20229338A	GJB6	NM_001110219.3(GJB6):c.-16+256_-16+264del	noncoding	Benign
13	20229315	ATTTTTTTTTTT	A	T20229336A	GJB6	NM_001110219.3(GJB6):c.-16+254_-16+264del	noncoding	Benign
13	20229805	G	GC	G20229812C	GJB6	NM_001110219.3(GJB6):c.-185-62dup	noncoding	Benign
13	20232512	C	CG	C20232517G	GJB6	Single_allele	noncoding	Benign
13	20404819	CAG	C	A20404824T	CRYL1	NM_015974.3(CRYL1):c.740-84CT[2]	noncoding	Benign
13	20414255	T	TTG	A20414278T	CRYL1	NM_015974.3(CRYL1):c.634-890CA[12]	noncoding	Benign
13	20439050	G	GA	G20439056A	CRYL1	NM_015974.3(CRYL1):c.438+538dup	noncoding	Benign
13	20463407	GA	G	A20463414T	CRYL1	NM_015974.3(CRYL1):c.277-23654del	noncoding	Benign
13	20482739	C	CTGTGTG	C20482758T	CRYL1	NM_015974.3(CRYL1):c.276+6613CA[12]	noncoding	Benign
13	20583033	AT	A	T20583041A	IFT88	NM_006531.5(IFT88):c.153+22del	noncoding	Benign
13	20615888	GAA	G	A20615890G	IFT88	NM_006531.5(IFT88):c.1199+11_1199+12del	noncoding	Benign
13	20656350	CTT	C	T20656351G	IFT88	NM_006531.5(IFT88):c.2003-14_2003-13del	noncoding	Benign
13	21701709	A	ATGTGTG	A21701741G	FGF9	NM_002010.3(FGF9):c.*276GT[18]	noncoding	Benign
13	23203853	T	TACAATTTGGATTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A23203869T	SGCG	NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT:p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
13	23203868	T	TA	G23203872A	SGCG	NM_000231.3(SGCG):c.177dup:p.Val60fs	coding	Pathogenic
13	23250375	AT	A	T23250382C	SGCG	NM_000231.3(SGCG):c.298-248del	noncoding	Benign
13	23279595	GTTGCATTTTCTCCA	G	T23279604C	SGCG	NM_000231.3(SGCG):c.505+126_505+139del	noncoding	Benign
13	23295432	TTTGA	T	T23295433A	SGCG	NM_000231.3(SGCG):c.524_527del:p.Phe175fs	coding	Pathogenic
13	23295441	TC	T	C23295442A	SGCG	NM_000231.3(SGCG):c.533del:p.His177_Ser178insTer	coding	Pathogenic
13	23295456	C	CT	G23295459T	SGCG	NM_000231.3(SGCG):c.549dup:p.Val184fs	coding	Pathogenic
13	23295467	CG	C	G23295468A	SGCG	NM_000231.3(SGCG):c.559del:p.Asp187fs	coding	Pathogenic
13	23320597	C	CT	G23320615T	SGCG	NM_000231.3(SGCG):c.579-23dup	noncoding	Benign
13	23320597	C	CTT	G23320615T	SGCG	NM_000231.3(SGCG):c.579-24_579-23dup	noncoding	Benign
13	23320597	CT	C	T23320614G	SGCG	NM_000231.3(SGCG):c.579-23del	noncoding	Benign
13	23320706	G	GC	A23320707C	SGCG	NM_000231.3(SGCG):c.648_649insC:p.Lys217fs	coding	Pathogenic
13	23320731	G	GTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A23320732T	SGCG	NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC:p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer	coding	Pathogenic
13	23320743	C	CCA	A23320744C	SGCG	NM_000231.3(SGCG):c.685_686insCA:p.His229fs	coding	Pathogenic
13	23320755	GGAAT	G	A23320757G	SGCG	NM_000231.3(SGCG):c.699_702del:p.Met234fs	coding	Pathogenic
13	23324387	CTG	C	T23324392C	SGCG	NM_000231.3(SGCG):c.727_728del:p.Cys243fs	coding	Pathogenic/Likely_pathogenic
13	23324437	TCA	T	C23324440G	SGCG	NM_000231.3(SGCG):c.775_776del:p.Gln259fs	coding	Pathogenic
13	23324484	CCTGT	C	C23324489G	SGCG	NM_000231.3(SGCG):c.824_827del:p.Ser275fs	coding	Pathogenic
13	23330533	CG	C	G23330534T	SACS	NM_014363.6(SACS):c.13342del:p.Arg4448fs	coding	Pathogenic
13	23330666	CTT	C	T23330667G	SACS	NM_014363.6(SACS):c.13208_13209del:p.Gln4403fs	coding	Pathogenic
13	23330811	CA	C	A23330814T	SACS	NM_014363.6(SACS):c.13064del:p.Leu4355fs	coding	Pathogenic
13	23330833	G	GC	A23330835C	SACS	NM_014363.6(SACS):c.13042dup:p.Ala4348fs	coding	Pathogenic
13	23330895	CT	C	T23330901C	SACS	NM_014363.6(SACS):c.12980del:p.Lys4327fs	coding	Pathogenic/Likely_pathogenic
13	23330948	CTTCTT	C	C23330951A	SACS	NM_014363.6(SACS):c.12923_12927del:p.Lys4308fs	coding	Pathogenic/Likely_pathogenic
13	23330990	T	TG	A23330996G	SACS	NM_014363.6(SACS):c.12885dup:p.Lys4296fs	coding	Pathogenic
13	23331036	GA	G	A23331040G	SACS	NM_014363.6(SACS):c.12839del:p.Phe4280fs	coding	Pathogenic
13	23331039	AAG	A	A23331042G	SACS	NM_014363.6(SACS):c.12835_12836del:p.Leu4279fs	coding	Pathogenic/Likely_pathogenic
13	23331339	TC	T	C23331342G	SACS	NM_014363.6(SACS):c.12536del:p.Gly4179fs	coding	Pathogenic
13	23331656	CAA	C	A23331659G	SACS	NM_014363.6(SACS):c.12218_12219del:p.Phe4073fs	coding	Pathogenic/Likely_pathogenic
13	23332027	TA	T	A23332028G	SACS	NM_014363.6(SACS):c.11848del:p.Tyr3950fs	coding	Pathogenic
13	23332201	G	GA	T23332204A	SACS	NM_014363.6(SACS):c.11674dup:p.Ser3892fs	coding	Pathogenic
13	23332366	TG	T	G23332368T	SACS	NM_014363.6(SACS):c.11509del:p.Gln3837fs	coding	Pathogenic
13	23332739	GT	G	T23332740G	SACS	NM_014363.6(SACS):c.11136del:p.Pro3713_Leu3714insTer	coding	Pathogenic
13	23332766	AG	A	G23332768A	SACS	NM_014363.6(SACS):c.11109del:p.Cys3704fs	coding	Pathogenic
13	23332943	G	GA	T23332948A	SACS	NM_014363.6(SACS):c.10932dup:p.Leu3645fs	coding	Pathogenic
13	23333086	TGA	T	G23333089A	SACS	NM_014363.6(SACS):c.10788_10789del:p.Gln3597fs	coding	Pathogenic
13	23333183	TC	T	C23333184T	SACS	NM_014363.6(SACS):c.10692del:p.Lys3565fs	coding	Pathogenic
13	23333204	T	TA	C23333208A	SACS	NM_014363.6(SACS):c.10671dup:p.Ile3558fs	coding	Pathogenic
13	23333240	TCA	T	C23333243G	SACS	NM_014363.6(SACS):c.10634_10635del:p.Val3545fs	coding	Pathogenic
13	23333375	TAAGG	T	A23333376T	SACS	NM_014363.6(SACS):c.10497_10500del:p.Ile3498_Tyr3499insTer	coding	Pathogenic
13	23333428	GGTAA	G	T23333430A	SACS	NM_014363.6(SACS):c.10444_10447del:p.Leu3482fs	coding	Pathogenic
13	23333754	AAATGTTGAAGTTTGGACCATAT	A	T23333760A	SACS	NM_014363.6(SACS):c.10100_10121del:p.Tyr3367fs	coding	Pathogenic
13	23333918	CTT	C	T23333920A	SACS	NM_014363.6(SACS):c.9956_9957del:p.Lys3319fs	coding	Pathogenic/Likely_pathogenic
13	23334215	CAG	C	A23334218G	SACS	NM_014363.6(SACS):c.9659_9660del:p.Ser3220fs	coding	Pathogenic
13	23334442	TCTTCTGCATCTTTAAAA	T	T23334444A	SACS	NM_014363.6(SACS):c.9417_9433del:p.Cys3139_Glu3145delinsTer	coding	Pathogenic
13	23334543	AT	A	T23334545A	SACS	NM_014363.6(SACS):c.9332del:p.Asn3111fs	coding	Pathogenic
13	23334756	A	AT	A23334762T	SACS	NM_014363.6(SACS):c.9119dup:p.Asn3040fs	coding	Pathogenic
13	23334805	CTA	C	T23334806G	SACS	NM_014363.6(SACS):c.9069_9070del:p.Arg3024fs	coding	Pathogenic
13	23334920	GA	G	A23334922T	SACS	NM_014363.6(SACS):c.8955del:p.His2986fs	coding	Pathogenic
13	23335110	A	AT	A23335112T	SACS	NM_014363.6(SACS):c.8765dup:p.Tyr2922Ter	coding	Pathogenic
13	23335251	CAAAG	C	A23335257G	SACS	NM_014363.6(SACS):c.8621_8624del:p.Ser2874fs	coding	Pathogenic/Likely_pathogenic
13	23335614	C	CT	A23335617T	SACS	NM_014363.6(SACS):c.8261dup:p.Ser2755fs	coding	Pathogenic
13	23335648	TG	T	G23335649A	SACS	NM_014363.6(SACS):c.8227del:p.His2743fs	coding	Pathogenic
13	23335676	CATCT	C	A23335677G	SACS	NM_014363.6(SACS):c.8196_8199del:p.Asp2733fs	coding	Pathogenic
13	23335841	AG	A	G23335842A	SACS	NM_014363.6(SACS):c.8034del:p.Ser2679fs	coding	Pathogenic
13	23336087	TA	T	A23336090T	SACS	NM_014363.6(SACS):c.7788del:p.Phe2596fs	coding	Pathogenic/Likely_pathogenic
13	23336335	CAG	C	G23336337C	SACS	NM_014363.6(SACS):c.7539_7540del:p.Cys2514fs	coding	Pathogenic
13	23336460	AG	A	G23336463C	SACS	NM_014363.6(SACS):c.7415del:p.Pro2472fs	coding	Pathogenic
13	23336501	TA	T	A23336503G	SACS	NM_014363.6(SACS):c.7374del:p.Met2459fs	coding	Pathogenic
13	23336555	GTTTCT	G	T23336561C	SACS	NM_014363.6(SACS):c.7316_7320del:p.Lys2439fs	coding	Pathogenic
13	23336748	A	AT	A23336751T	SACS	NM_014363.6(SACS):c.7127dup:p.Asn2376fs	coding	Pathogenic
13	23336791	TGAAAA	T	A23336796C	SACS	NM_014363.6(SACS):c.7080_7084del:p.His2362fs	coding	Pathogenic
13	23337038	C	CT	A23337042T	SACS	NM_014363.6(SACS):c.6837dup:p.Glu2280fs	coding	Pathogenic
13	23337212	GT	G	T23337216G	SACS	NM_014363.6(SACS):c.6663del:p.Lys2221fs	coding	Pathogenic/Likely_pathogenic
13	23337572	AG	A	G23337574A	SACS	NM_014363.6(SACS):c.6303del:p.Leu2102fs	coding	Pathogenic
13	23338048	TAGTA	T	A23338053T	SACS	NM_014363.6(SACS):c.5824_5827del:p.Tyr1942fs	coding	Pathogenic
13	23338066	AGCTCCCCACTAGTG	A	T23338069C	SACS	NM_014363.6(SACS):c.5796_5809del:p.Thr1933fs	coding	Pathogenic
13	23338130	CAT	C	A23338131G	SACS	NM_014363.6(SACS):c.5744_5745del:p.His1915fs	coding	Pathogenic/Likely_pathogenic
13	23338131	ATG	A	G23338133C	SACS	NM_014363.6(SACS):c.5743_5744del:p.His1915fs	coding	Pathogenic
13	23338426	GTGGTACACTC	G	G23338428A	SACS	NM_014363.6(SACS):c.5440_5449del:p.Glu1814fs	coding	Pathogenic
13	23338481	CAG	C	G23338483C	SACS	NM_014363.6(SACS):c.5393_5394del:p.Ser1798fs	coding	Pathogenic
13	23338864	GAATA	G	A23338869T	SACS	NM_014363.6(SACS):c.5008_5011del:p.Tyr1670fs	coding	Pathogenic
13	23339040	T	TC	T23339042C	SACS	NM_014363.6(SACS):c.4835dup:p.Phe1614fs	coding	Pathogenic
13	23339099	TAA	T	A23339100T	SACS	NM_014363.6(SACS):c.4775_4776del:p.Ile1592fs	coding	Pathogenic
13	23339115	ATGATT	A	G23339117A	SACS	NM_014363.6(SACS):c.4756_4760del:p.Asn1586fs	coding	Pathogenic
13	23339307	CCACA	C	C23339308A	SACS	NM_014363.6(SACS):c.4565_4568del:p.Leu1522fs	coding	Pathogenic/Likely_pathogenic
13	23339353	TTCTC	T	C23339357T	SACS	NM_014363.6(SACS):c.4519_4522del:p.Glu1507fs	coding	Pathogenic
13	23339501	GCTCT	G	C23339504T	SACS	NM_014363.6(SACS):c.4371_4374del:p.Arg1457fs	coding	Pathogenic
13	23339758	GC	TA	G23339758T	SACS	NM_014363.6(SACS):c.4117_4118delinsTA:p.Ala1373Ter	coding	Pathogenic
13	23340290	CA	C	A23340292T	SACS	NM_014363.6(SACS):c.3585del:p.Ile1195fs	coding	Pathogenic
13	23340519	AG	A	G23340521A	SACS	NM_014363.6(SACS):c.3356del:p.Pro1119fs	coding	Pathogenic/Likely_pathogenic
13	23340532	A	AC	T23340535C	SACS	NM_014363.6(SACS):c.3343dup:p.Val1115fs	coding	Pathogenic
13	23340547	A	AT	G23340556T	SACS	NM_014363.6(SACS):c.3328dup:p.Ile1110fs	coding	Pathogenic/Likely_pathogenic
13	23340594	G	GT	A23340601T	SACS	NM_014363.6(SACS):c.3281dup:p.Asn1094fs	coding	Pathogenic/Likely_pathogenic
13	23340707	CA	C	A23340708G	SACS	NM_014363.6(SACS):c.3168del:p.Asp1057fs	coding	Pathogenic
13	23340870	T	TGCATTTTCAATATCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A23340889T	SACS	NM_014363.6(SACS):c.3005_3006insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATATTGAAAATGC:p.Ala1002_Phe1003insAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
13	23341120	CT	C	T23341124C	SACS	NM_014363.6(SACS):c.2755del:p.Arg919fs	coding	Pathogenic
13	23341175	CTT	C	T23341177G	SACS	NM_014363.6(SACS):c.2699_2700del:p.Lys900fs	coding	Pathogenic/Likely_pathogenic
13	23341424	TG	T	G23341425A	SACS	NM_014363.6(SACS):c.2451del:p.Ile818fs	coding	Pathogenic
13	23341591	ACAAT	A	C23341596T	SACS	NM_014363.6(SACS):c.2281_2284del:p.Ile761fs	coding	Pathogenic
13	23341780	C	CT	G23341807T	SACS	NM_014363.6(SACS):c.2186-116dup	noncoding	Benign
13	23341780	CT	C	T23341806G	SACS	NM_014363.6(SACS):c.2186-91del	noncoding	Benign
13	23354551	AT	A	T23354552C	SACS	NM_014363.6(SACS):c.2060del:p.Asp687fs	coding	Pathogenic
13	23354686	GC	G	C23354689A	SACS	NM_014363.6(SACS):c.1925del:p.Gly642fs	coding	Pathogenic
13	23354766	CTG	C	T23354769A	SACS	NM_014363.6(SACS):c.1844_1845del:p.Thr615fs	coding	Pathogenic
13	23354841	GCA	G	C23354844G	SACS	NM_014363.6(SACS):c.1769_1770del:p.Val590fs	coding	Pathogenic
13	23354859	CT	C	T23354860A	SACS	NM_014363.6(SACS):c.1752del:p.Glu585fs	coding	Pathogenic
13	23354905	CCA	C	C23354906G	SACS	NM_014363.6(SACS):c.1705_1706del:p.Trp569fs	coding	Pathogenic
13	23354984	AC	A	C23354986T	SACS	NM_014363.6(SACS):c.1627del:p.Val543fs	coding	Pathogenic
13	23355056	TC	T	C23355058A	SACS	NM_014363.6(SACS):c.1555del:p.Glu519fs	coding	Pathogenic
13	23355069	G	GT	A23355074T	SACS	NM_014363.6(SACS):c.1542dup:p.Arg515fs	coding	Pathogenic
13	23355240	T	TGC	T23355243G	SACS	NM_014363.6(SACS):c.1370_1371dup:p.Thr458fs	coding	Pathogenic
13	23355253	AC	A	C23355255A	SACS	NM_014363.6(SACS):c.1358del:p.Gly453fs	coding	Pathogenic
13	23355382	TAA	T	A23355384G	SACS	NM_014363.6(SACS):c.1228_1229del:p.Leu410fs	coding	Pathogenic/Likely_pathogenic
13	23355417	CCACACTGTTA	C	T23355423C	SACS	NM_014363.6(SACS):c.1185_1194del:p.Cys395fs	coding	Pathogenic
13	23355474	C	CT	A23355476T	SACS	NM_014363.6(SACS):c.1137dup:p.Glu380fs	coding	Pathogenic/Likely_pathogenic
13	23355597	T	TA	C23355599A	SACS	NM_014363.6(SACS):c.1014dup:p.Lys339Ter	coding	Pathogenic
13	23355696	CTG	C	G23355700C	SACS	NM_014363.6(SACS):c.914_915del:p.Thr305fs	coding	Pathogenic
13	23355912	TG	T	G23355913A	SACS	NM_014363.6(SACS):c.699del:p.Asp235fs	coding	Pathogenic
13	23355990	T	TA	G23355994A	SACS	NM_014363.6(SACS):c.621dup:p.Ser208Ter	coding	Pathogenic
13	23358467	CAT	C	T23358469G	SACS	NM_014363.6(SACS):c.470_471del:p.Tyr157fs	coding	Pathogenic
13	23365295	CA	C	A23365301T	SACS	NM_014363.6(SACS):c.346-19del	noncoding	Benign/Likely_benign
13	23371099	A	AT	G23371102T	SACS	NM_014363.6(SACS):c.237dup:p.Ser80fs	coding	Pathogenic
13	23371168	GA	G	A23371175G	SACS	NM_014363.6(SACS):c.172-4del	noncoding	Benign
13	23375233	GC	G	C23375236A	SACS	NM_014363.6(SACS):c.56del:p.Gly19fs	coding	Pathogenic
13	23375534	CGAG	C	G23375538C	SACS	NM_014363.6(SACS):c.21-268_21-266del	coding	Benign
13	23836359	GA	G	A23836371G	MIPEP	NM_005932.4(MIPEP):c.1544-11del	noncoding	Benign
13	23836359	G	GA	G23836372A	MIPEP	NM_005932.4(MIPEP):c.1544-22dup	noncoding	Benign
13	23862542	AGCAGCATATTACTGCGATTTCTACCTTAAAAAGCATCATGGTGGATAAATGTCTCAAGAGTACTAAAGCTTGGAAAAACTAGCAATGTCATTACAAATATGCAAAGCATTAATCACTAACTTTAAATCACTACTTTTTGCTATACCTTTAAAAGAGACTTAACAAATTAACTCCTAGAAAGGAATTTTATCATTGGCTACATTTAAGATTTCTAGTCATTTTTCCCCTTTGGAAAAACTCTAGCTGGTCAATAATTAAATAGGTATTTAATATTTGTAGAATATGACATGTATATTGGAATTAATTCCTATATATACCTGTAAAATGATGAAGCTATGCTTGCTCTAAAATCTATAGCTATGTAGAGAAAGACTACTAACACTTAACTAAGTAAAGCAGGATAAATCCTCAATAAGTGCATAACTAACCCTCTTTCTTTATTGTATCAAAGACACAGTGGTTCACCAGGATCATTAAAAGAAAATTTTAGAATTTATAAACATAATCCAAACTAGAGAAGAATGAGTTCTAAGGCATGAGTTTATAGTCCAAAACAGAAATGTGAGCCAAGATCCAATGTGTTGGTGTAGCCACAACAGGCAAACAAAATTTTAGACAGCATTACAAGAGAAAAAGAGAAAACATCATCCTTTTTTACAAACGGTGACTGCTTCTTCCTAGAATCCTTAGTACCTAAAGGTGTGCTGCCTCTCAACTAAGGCCTAGAAGAGGGCCAGTGAAGGGCAAGTGTATGATCGAAGGCACTGAGCAGGGGAGGGGCAGGGGAGGCAGGAATACAGGTTGAGCCTCCCTAATCTGAAAATCTGAAACTTTCTCAGCACTGACATGATGGTACAAGTGGAAAATTCCACATGTGATGTCATGTGATAGGTTGCAGCCAAAACTTTGTTTCAGGCACAAAATTATTAAAAACACTGTATAAAATTATCTTCAGGCTATGTGTATAAGGTGTATATGAAACATAAATGAATTTCGTGTTTAGACTTGGGTCCCATCCCCAAGATATCTCATTATGTATATGCAAATATTCCAAATTCCCCCCAAAAAATGAAATCCAAAACATGTGTGGTCCCAAGCATTTCAGATAAGGGACACTCAACTTGTTATAACAAACGGACACACCAAAGGCAGTAGAACACTTCAGCTTGAAATTACAAATGTTGAGATAGAACATCCTTAAAATACTACACAAAATTAAAAAGACACCACATCCATGAGCCTCCTGTATTTAGGCCAAAAGAAGAGAAATACTACTTTATGAACTTGTCATAAAATTCATGGTACAAGTTAAAATAAATAGTTTCAAAAACATTTTGGTAAAGATTTTTAAAGTGCAAATGAAAGATGAATTTCTAAAAACAATTGTTTAATGAAAGGGGACAGCTTATGTTTTCAAGAATGGCACATAAGGAAGACAACTATGGCCTTTTAAAGTATGTCTCATAGTGAGACAGGTCTGGTCCAATATGCCAAAACTTATATTCTAGGTCACTTCCTAATTTTTTATAAATCAAGTCTTCTTTAAAAAGACTAAATAACATATAACCAAAAAACTAAATAGTAGAATAAAAACTAACCTTTCAGAAAGTTTGTCAGATAGTTTTTCAAGGAACTGCATGACAGTCTCTAAAACGAAATCCAAAAGAAAATATCTTCAATTATGTGAAATAAAATGAACATATCTGTTAAAATTATTATGTGATGATCATAATCTATATCCCACAATTCCCTTAAAGTGATGATTTTCAAAGGGAAGTAGAGCTACCAACATATACCAAACATATAGTAAATGCTTCTAGGTGATGACGATCTTTTAATCAGAAAAAAATTAAATTGGCATACTAATAATCCACAGCGTCAGATTCTATCCCAAAATTAAAAGAGTTAATGGGACCAGGTGGCTCATGCCTGTAATCCTAGTACTTTGGGAGGCTGAGGGCAGGGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCAAGGCCAACAGGCTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATAGCTTGAACCCAGGAGGTAGAGACTATAGTGAGCCCAGACTGTGCCACTGTACTCCAGCCTGGGCAAGAAAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAGTTAATGGGAGGCTAAAGAAAAAAGTACAAAATTTCAAGGTGTTTCTATCTATTCATATGTGTAAGAAAAAAAAGTTCTGAGACATGTCTGACGTTTTCAGAGTTTTAAAGAGATATCTAGACTGCTTTGTTCATAAAAATAGGTGCAGTGTAGAAGTATAATTCCCTGAAATAAATTTTTTAAGATCAATGTTTTTCTTGATAACAATTTTATTGTTATATACAACTGTAGAATAATCTATTCAGGATAAATATGAAAAAAATAGCAAAATAAGAAAAATAAATATTAACTTCTGATAGAATTTTTAAAGTATTTTTATTAAAATACTTCTGCCATAGTTGTCATAATTTACAAACCCATAAAGGCAGTGCAGTAGAATTATCACCGTTTCCCACAAGAGGAAATGTTTTGCAAGTATTTCTGAATGTAGCACTTTTTATCACTGACTTATGTGTACAGAGCTTTCATATGTATTTTAGTTCACCACAAACACTATGTTTGTATTTTCCAGATAATCTTTTATACAGTTTTAAGTTTCCTGCCCTCTCTTCAATTTAAGTTATCTCCTTTTGAGTGAAATAAAAGACTAAGGAAATAAATAATGGTGGTTAACCTAAACCCAAACCATGAGGTTTCTTGCCACTGTCAATACTTAACAAGTCCTGTGTATACGAATTCTGAAAACACTGGCTCATGTGCCATATGAAACAACAATAGGAATTTTTGGGGAACAAAGACATTATTTAGTCAACAATGAAATCTCATTTTAGGATTATATTCCAGGTACCATACCAAACTGTTTTCAAATGAATCCCTATGTATGCTTGTATACGTTTTATTTCTTAATAACCGTGTTTTAACATTCACCCATCTTATTCTTCCAGTCATTTTACATGTGAAGAATCTGCCTCAATTAATTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGAAGTCCCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGGTTCAATCGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCGCGCCCAATTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGACACCACATCTGGCCTGCCTCAATTAGTGTCCCCAGAGAATTGTCATATTAAGATTCAGTTTGAAACCCCCCACTAAGTGCCTCACCGCAGTTACCTCCTCATTCACTAGCCACATGAATGCCCGCCTTAGCCTCAGTCAGCCTCTCTGTCTTCCTTCTGCTCTGCTGAGGACTCACTCCATCACTGTGCATGACAGTTTCATTTCCCTCAGGGCGCCTTCCACAGCCACAGATGCATCTGACAAATGCCCCGAGCTCCTAAATCCCATGGCATTGTTTTGTCTGTACTACTCCATCGACACCGAAAACGTGCCAACCTCTATTATTATTTATCTTTTTATATGCATATATCCAGCTCCTCAACTAAGCTTTAAATCCTCAAGGACCCAGAGCACATCTTACGTGATGATGTGCACAACAGCCCCCTGCCAATACATCAGCACACCAAGCACTTAGTGCACAAGGGTGACCTGCCAGTCACGGAATCTGGAGCTGGGTGCTGCAGGTCCAGTGAGCTCCACGCTGCTACAGCCAGTGGTCATGCCCAGCCCTCCTCACATCTGACCTGGCCACAGCATGAGTCAGCTGATCTCTCCCCTCTCCTGTAGACAGACCTTCTGCGCGGCCTCCAGGACCACACCCTGTAATCACTTTCCACCTCCCTTAGTGGCCGTTACATCTGGCAGCGTTAACTAGCAGTTCCTCACATGCCTGGCCTCTTAAACTTGAAGGCCCCAGAGCGCAGTCCTTGGACTTGTTCTTTAAGTTCACTCTCTTAGTGGTATCAGAATCTCATTTTAGAGGTTCAGACTTACATATGAAGCTCAGAACTCCACACTCCATCTAACTGCCTACCCAACTTCACCACTTGAACCTCATTTGGTATCTCAAACTTAACTTGAAACAAACCAAGTTTCCGGTCCTCCCAATCTTAGTTAACAGTAGTAACTCACTCTCTTTCTAGTTGCTTAGGTCGAAAATGTTGGCTCCCTCTTCCAAATACTCTGTACCCAGAATCTGATCACATCTTACCACCTTCCCTGCTACCACCTGGTCAAGATGCCAACACTTCTCATCATGGTTACTGCAAAACAGCATCTAAACAGGCCCTCTTCTACCCTGGCCCTGCTGCAGTCTTCTCTCAGGAACAGCAGCACTGACTCACCATTAGCACTGGAGTCAGATCATCTCACTCCTCTGCCCCAACCCCCACAGTGACCTGCTGCACTTGCATCAAGTCTCTACTTAATGCCGCCCCTTGTCAGTCTGTTCCCACCTCTCGCCACTCTCCTTGCACACGCTGCGCTTCAGCCACTCTGCCCTCCTCAAACGTGGCAGGCATTTTTCTGCCTCAAGACCTTAGCACTTGATAGTGACTCTGCGTGAAACCTTTCTCCCCTCAAGAGCCACAGCCTCATGCTTGTGTCTGTCAAGAGCACGCTCACATTCCACATTCTAAGTGAGCCTTCCGACAATGCTCTCTAAAACTCCAACACCAGCCTACATGCCCACATACCTTATCCCCTTCCCTGTTCAGTTTTCTCCATGGCTTGTATTAACTAATAACATACCACATACTTTATCTACTTATTTCGTTCTTTACTGTTCTTCCCTTGCTCCCAAGAATGTAAACTGCATAAGGATAGGAATTTTCTTCTGCTTTGTACACTGACTTATTTCCCTGACCGAGAATAATATCTGACATACAGTGGGCAATCAGTAAATATTTGCTGAATTAATAAACAAAAGGGGGATGTAGATGATATAAAACATAGGGCATTAGGTCTCAAGCAGCCTGTGGAAAACCATAAATGTAGCATATGTGTTTAGGCTTCAGTTCTGCCACATTTTAGCAATATAACCTAACCTTAGATTCCTTATCTGTGACACGAATACAAATACCTACCTCACAAAGCTGCAGAGGAAGGAAATGAGATAACAACAGGATAAGCACTGAATGATATTCTAATATTATTATTTTATATAAATATAAAATAAAAATATGGTACTATTATAATCAAACTGTTGACAACAGCGACTACAGAAAAACATACTTTTCACCAAACTGATACTTACAAAAAAAGAAAAAACATACACTAAAAACACACATTTAATACATAACATACATATTATATCTGTTTAGGAGCTTCGATTATATGAAAAAAAATGTAAGTGTTTTAAGGGTTCGGGGACAAAGGAGTCCAAGGAAAGTGAAAAAGTTTAACCAGCTTCATGAAAGAGGTGGGTTTTGAGCTGAGCACTAAAAAAACGGGGTAAGATTTTAACAGGCAGACCAGGAAGAAAAGCTGCTCTCCATAGGAGAGTGACACGAGCAAGGGAACCCAGGCCGCAATGAGCGTGACACGCCTGTAGCTTAACCGAGAGCCCTGACAGGTCAAGGGAAACAGTTGTTTACGAAAGAGTAAGAAGTAAGATTGAGTGCATTTAGAGAACTTTGGAGAAGAGAGGAACATGCTAGGGTGAGAAGGGATAAGCACAGAAGGAATAAAGACAAGCGAGGATTCAGGTTGTGATCTGCCCCCAGTGTCCCCTCTGTCGGTGAGTGGAATGTCTAACCAGATGTACAACCAGAAACCCAGGGGGCCCACCACAATGCCTCCTCCTCCCTCTCACCCTCACTAAGTCTTGCAACTTCACTGCCAAGACCTTGAGTCTCACGCAGCTCCATCATCACGGCCACCCTACTCCTGACTCACCACCTAAATTACAACTGTAAGTTAATAAATGCTTCTGAAAAAACGTATTATGTACATTTATATTATTATTGTGTAACATTTTCTCTTAGACATTATGAATCATAAGGAACTCAACATAGCACAAGGCAAGTTTATGACAAACCCAACGACACACTTCCGTAACACCTCACCTAGCACAAACCTTCCTAAGCAGTACTCTTCTCTCTGAAAAGGAGGCTTATCTGACTGTGTGTTTTTTATATGACCTAACCTACATTTAACCTTGACCTCAGTAAACATACTGATCTTTCATTCTCTTACACTAATTCTAACCAATTTGTCAAATTCAGCACAGAAACTGTGTTAAAATGAAAACAATTTAGACTAACATCAAAATGAAAATTTAGGTTATGATTTTACTCTCAACATTCACATAAAATAAAATTCTTTGGTTGGACAGAATTATGCCAAATTATTAGCTCTATTTAAAAATGGTTCCTATAAAAATACATAGAAAATCTCAATAAATGGTTCTCTACATGTATTAAAAATAGAACACTAATTTACAGCTATTTAAAATCAAAAGCTCAGTTTCATAAAAATCCTATTTTGCCCTTAAATGTTGGATAAACAGGCTTACCTGGATTTTTAGCTATCGTTCCTTGGAGAGCCCTGTGAGAAAACGTGGAATACCCCACCAACTTTGCCAGAAGATCTCTGCTGCTGAGCAATTCTTCTAAACATTTCAATTGACCAGCATTGGGATAAAGAAAAATTTTATAAGCAGCTTCTCGCACCTACGTTTAAAAAGTAAATGGTGAAGGCTATAAATATCATCACACAGTCCT	A	G23862543A	MIPEP	NM_005932.4(MIPEP):c.787-51_993-181del	noncoding	Pathogenic
13	23870319	T	TTAAA	G23870322A	MIPEP	NM_005932.4(MIPEP):c.604-125_604-124insTATT	noncoding	Benign
13	23875027	A	AACACACACACAC	T23875064A	MIPEP	NM_005932.4(MIPEP):c.540-154GT[24]	noncoding	Benign
13	23875027	A	AACACACACAC	T23875064A	MIPEP	NM_005932.4(MIPEP):c.540-154GT[23]	noncoding	Benign
13	23875027	A	AACACACAC	T23875064A	MIPEP	NM_005932.4(MIPEP):c.540-154GT[22]	noncoding	Benign
13	23875027	AAC	A	A23875062T	MIPEP	NM_005932.4(MIPEP):c.540-154GT[17]	noncoding	Benign
13	23875027	AACAC	A	A23875060T	MIPEP	NM_005932.4(MIPEP):c.540-154GT[16]	noncoding	Benign
13	23886591	AAGG	A	G23886594A	MIPEP	NM_005932.4(MIPEP):c.190-88_190-86del	noncoding	Benign
13	24883399	TA	T	A24883409T	CENPJ	NM_018451.5(CENPJ):c.3825-31del	noncoding	Benign
13	24884129	G	GAATT	T24884134A	CENPJ	NM_018451.5(CENPJ):c.3703+28_3703+31dup	noncoding	Benign
13	24884398	CACTT	C	A24884399C	CENPJ	NM_018451.5(CENPJ):c.3539_3542del:p.Glu1180fs	coding	Pathogenic
13	24885424	TCTTA	T	A24885428C	CENPJ	NM_018451.5(CENPJ):c.3367-42_3367-39del	noncoding	Benign
13	24885575	G	GTT	G24885579T	CENPJ	NM_018451.5(CENPJ):c.3366+28_3366+29dup	noncoding	Benign
13	24885807	C	CTT	A24885811T	CENPJ	NM_018451.5(CENPJ):c.3302-140_3302-139dup	noncoding	Benign
13	24889571	GCGCGTGTGCACACACACGCA	G	T24889576C	CENPJ	NM_018451.5(CENPJ):c.3217-191_3217-172del	noncoding	Benign
13	24892532	G	GC	A24892540C	CENPJ	NM_018451.5(CENPJ):c.3216+104dup	noncoding	Benign
13	24892872	C	CAA	C24892885A	CENPJ	NM_018451.5(CENPJ):c.2992-7_2992-6dup	noncoding	Benign
13	24892881	AAAAC	A	C24892885A	CENPJ	NM_018451.5(CENPJ):c.2992-18_2992-15del	noncoding	Benign
13	24899321	TAC	T	C24899325G	CENPJ	NM_018451.5(CENPJ):c.2991+96_2991+97del	noncoding	Benign
13	24903810	CCTT	C	C24903811T	CENPJ	NM_018451.5(CENPJ):c.2825+113_2825+115del	noncoding	Benign
13	24905919	CAG	C	A24905922T	CENPJ	NM_018451.5(CENPJ):c.2117_2118del:p.Asp705_Ser706insTer	coding	Pathogenic
13	24906288	CT	C	T24906290G	CENPJ	NM_018451.5(CENPJ):c.1749del:p.Ala584fs	coding	Pathogenic
13	24906603	TC	T	C24906607G	CENPJ	NM_018451.5(CENPJ):c.1434del:p.Lys479fs	coding	Pathogenic
13	24908060	TG	T	G24908061T	CENPJ	NM_018451.5(CENPJ):c.931del:p.Gln311fs	coding	Pathogenic
13	24911703	A	AT	A24911720T	CENPJ	NM_018451.5(CENPJ):c.568+227dup	noncoding	Benign
13	24912614	AAGCCC	A	A24912615C	CENPJ	NM_018451.5(CENPJ):c.407_411del:p.Gly136fs	coding	Pathogenic
13	24912899	CTT	C	T24912901G	CENPJ	NM_018451.5(CENPJ):c.125_126del:p.Lys42fs	coding	Pathogenic
13	25372300	G	GGGGCGCGGCGAGGGAGGGT	C25372324G	ATP8A2	NM_016529.6(ATP8A2):c.76+17_76+35dup	noncoding	Benign
13	25541974	GA	G	A25541976C	ATP8A2	NM_016529.6(ATP8A2):c.709del:p.Thr237fs	coding	Pathogenic
13	27254929	G	GT	A27254933T	RPL21	NM_000982.4(RPL21):c.130-310dup	noncoding	Benign
13	27256681	TG	T	G27256682T	RPL21	Single_allele	noncoding	Benign
13	27622956	T	TA	G27622958A	POLR1D	NM_015972.4(POLR1D):c.109dup:p.Arg37fs	coding	Pathogenic
13	27623108	GA	G	A27623109G	POLR1D	NM_015972.4(POLR1D):c.261del:p.Gly88fs	coding	Pathogenic
13	27623173	CAT	C	A27623174G	POLR1D	NM_015972.4(POLR1D):c.326_327del:p.His109fs	coding	Pathogenic
13	27648720	ATAC	A	A27648725G	POLR1D	NM_152705.3(POLR1D):c.101+272_101+274del	noncoding	Benign
13	27920029	AG	A	G27920033T	PDX1	NM_000209.4(PDX1):c.-106del	noncoding	Benign
13	28023310	ATC	A	C28023312T	FLT3	NM_004119.3(FLT3):c.2418+38_2418+39del	noncoding	Benign
13	28023802	C	CT	G28023813T	FLT3	NM_004119.3(FLT3):c.2291-335dup	noncoding	Benign
13	28028089	AAG	A	A28028110C	FLT3	NM_004119.3(FLT3):c.2053+67CT[10]	noncoding	Benign
13	28028089	AAGAG	A	A28028108C	FLT3	NM_004119.3(FLT3):c.2053+67CT[9]	noncoding	Benign
13	28037078	GT	G	T28037082G	FLT3	NM_004119.3(FLT3):c.1309+106del	noncoding	Benign
13	28049801	G	GA	G28049811A	FLT3	NM_004119.3(FLT3):c.743-36dup	noncoding	Benign
13	30459175	C	CTTAA	T30459179A	HMGB1	NM_002128.7(HMGB1):c.*2181_*2182insTTAA	noncoding	Benign
13	31215032	CT	C	T31215046C	B3GLCT	NM_194318.4(B3GLCT):c.71-5del	noncoding	Benign/Likely_benign
13	31215032	CTT	C	T31215045C	B3GLCT	NM_194318.4(B3GLCT):c.71-6_71-5del	noncoding	Benign
13	31215075	CAAAG	C	A31215081G	B3GLCT	NM_194318.4(B3GLCT):c.101_104del:p.Lys34fs	coding	Pathogenic
13	31247085	TC	T	C31247087G	B3GLCT	NM_194318.4(B3GLCT):c.335del:p.Pro112fs	coding	Pathogenic
13	31261131	AC	A	C31261132T	B3GLCT	NM_194318.4(B3GLCT):c.596+50del	noncoding	Benign
13	31269183	TA	T	A31269191T	B3GLCT	NM_194318.4(B3GLCT):c.597-23del	noncoding	Benign
13	31276666	C	CACAT	T31276672C	B3GLCT	NM_194318.4(B3GLCT):c.781-34_781-31dup	noncoding	Benign
13	31276686	CT	C	T31276690C	B3GLCT	NM_194318.4(B3GLCT):c.781-12del	noncoding	Benign
13	31317977	G	GA	T31317988A	B3GLCT	NM_194318.4(B3GLCT):c.1184+302dup	noncoding	Benign
13	31739291	A	ATTG	A31739296T	RXFP2	Single_allele	noncoding	Benign
13	31764707	TACTC	T	C31764709A	RXFP2	NM_130806.5(RXFP2):c.320-328_320-325del	noncoding	Benign
13	31765432	CT	C	T31765443G	RXFP2	NM_130806.5(RXFP2):c.425+301del	noncoding	Benign
13	31781556	G	GC	A31781557C	RXFP2	NM_130806.5(RXFP2):c.786-115_786-114insC	noncoding	Benign
13	31786554	T	TAAA	G31786565A	RXFP2	NM_130806.5(RXFP2):c.1002-4_1002-2dup	noncoding	Benign
13	31786554	T	TAA	G31786565A	RXFP2	NM_130806.5(RXFP2):c.1002-3_1002-2dup	noncoding	Benign
13	31801856	G	GA	T31801863A	RXFP2	NM_130806.5(RXFP2):c.2006-284dup	noncoding	Benign
13	32316475	CA	C	A32316478G	BRCA2	NM_000059.4(BRCA2):c.18del:p.Glu7fs	coding	Pathogenic
13	32316479	GA	G	A32316480G	BRCA2	NM_000059.4(BRCA2):c.20del:p.Glu7fs	coding	Pathogenic
13	32316488	A	ACATTTTTTGAAATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A32316506T	BRCA2	NM_000059.4(BRCA2):c.45_46insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATTTTTTGAAATTTTT:p.Lys16delinsPhePhePhePhePheXaaXaaXaaXaaThrLeuLeuAlaArgMetValSerIleSerTer	coding	Pathogenic
13	32316490	ATT	A	T32316495G	BRCA2	NM_000059.4(BRCA2):c.35_36del:p.Phe11_Phe12insTer	coding	Pathogenic
13	32316497	GAAATTTTTAAGACACGCTGCAAC	G	T32316501G	BRCA2	NM_000059.4(BRCA2):c.41_63del:p.Ile14fs	coding	Pathogenic
13	32316500	A	AT	A32316506T	BRCA2	NM_000059.4(BRCA2):c.45dup:p.Lys16Ter	coding	Pathogenic
13	32316505	T	TAAGACACGCTGCAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCTAAAAANNNNNNNNNNGTTGATTTTTTTTTTTTGCCTGAAACCCCCCACTCAACCACTCCTCGTGGTCCATAACCTGAAAACATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	A32316519G	BRCA2	NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCTAAAAANNNNNNNNNNGTTGATTTTTTTTTTTTGCCTGAAACCCCCCACTCAACCACTCCTCGTGGTCCATAACCTGAAAACATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACACGCTGCA:p.Asn20delinsSerLeuGlnTer	coding	Pathogenic
13	32319074	TAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGG	T	A32319075T	BRCA2	NM_000059.4(BRCA2):c.68-2_316+1del	noncoding	Pathogenic
13	32319077	A	AT	A32319081T	BRCA2	NM_000059.4(BRCA2):c.71dup:p.Leu24fs	coding	Pathogenic
13	32319100	TG	T	G32319102T	BRCA2	NM_000059.4(BRCA2):c.93del:p.Trp31fs	coding	Pathogenic
13	32319102	GT	G	T32319105G	BRCA2	NM_000059.4(BRCA2):c.96del:p.Phe32fs	coding	Pathogenic
13	32319151	G	GAAGAATCTGAACATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAGCACGGTGAAACCCCATCTCTACTAAAAATACAACAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	A32319166G	BRCA2	NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAGCACGGTGAAACCCCATCTCTACTAAAAATACAACAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTGAACAT:p.Lys53delinsAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
13	32319160	GAACATAAAAACAACAA	G	A32319161T	BRCA2	NM_000059.4(BRCA2):c.152_167del:p.Glu51fs	coding	Pathogenic
13	32319165	T	TGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	A32319166G	BRCA2	NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG:p.Lys53delinsAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
13	32319168	AAAC	A	C32319174T	BRCA2	NM_000059.4(BRCA2):c.162CAA[1]:p.Asn56del	coding	Benign/Likely_benign
13	32319207	A	AAGGAAACCATCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	A32319221T	BRCA2	NM_000059.4(BRCA2):c.211_212insTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAAACCATCTT:p.Tyr71delinsPhePhePhePhePhePheXaaXaaXaaXaaPheHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
13	32319215	CATCT	C	A32319216T	BRCA2	NM_000059.4(BRCA2):c.207_210del:p.Ser70fs	coding	Pathogenic
13	32319246	A	AG	A32319247G	BRCA2	NM_000059.4(BRCA2):c.237_238insG:p.Ile80fs	coding	Pathogenic
13	32319248	T	TA	T32319250A	BRCA2	NM_000059.4(BRCA2):c.240dup:p.Phe81fs	coding	Pathogenic
13	32319264	GC	G	C32319265T	BRCA2	NM_000059.4(BRCA2):c.256del:p.Gly85_Leu86insTer	coding	Pathogenic
13	32319285	ATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGAACTACAAACTAGGAATTTAGGCAAACCTGTGTTAAAATCTTAGCTCATTCATTAATTGTGTCATGCTGGGCAAATCAGTCTCTCTGGCCTCTTTTTCCTCACTCGAAAAATGGAGACGATGAAAATAATGTCTCATAGGTTTGGATTAAATTAAATAATGTAGGTACTTAGTAAATGTTCTCTTTCATCCCTCCTTTGATAAATTTGCCAACTGAGATTTGCTGAATTACGTCTTTCTTATGCCAAAAAAACCTAGGACTTGTTTTGATGTTAATTAAACTAAACTATATTTCTGCAAGCTATCACAGAGGACAGAGATTATTTTACCGATATACTATAAGTATCATGATTTGGAAGGAGTTTCCCTGGCGTAGGTGCCGCATGTTTCTAAGCAATTATGTAATAAGATTATATATTCAGTCATTCAAATAATTATTACCTACTTGACATAAGTAATGAACTTTCCCTTTTCTTCAGAGTGTTAATCTCTAGTAAGGGGAATAAAGAGTACACAGATAAAGTATAGTGTAAGGTTGAATGTAGTATGTGCTAAGAGAAAAATATAAAAAAGTATAATGAGAGTTGAGAAGAAAGAGCAAATAGTATTGGGCAAAGTTAGGCAATTATTCCTTTGAGCTAAACCTTGAAGGATAGGTGAGAGATTAAGAAATTTGAAGATGTGGTAGAGTGATAATGTTCTAGGCAGAGGGAACAACATGAGGAAGAATATGTAGTGTGTTCAGGAAATAGCAAGTAATTCAGGTTGGCTTTGGTTGTTTTGTGTCTGAAAGGGACCAATAGACAAGGCAAAAAGGCAGACTAAAGGCAGGCATTGAATGCCAAGCTAAAGAAATTGAATTTGTTTGGTTGGTTGGTGAGCAGAGAAATCACATGCAAATTTCATCATGCTACTTATTGTGTCAAACCTTAGATCACCTCCCTTTGTCCTTATAGCAAAATCTAAACTTGATATGGCTTTCAAGTTCCTTTGTGATCAGGCCCCTGATTTACACTCTTGGCTCAGCTTGCCATATTCATCCTCTCACCTATCTTCATTTGCCATTCATTCCTACTGAATTTCTTTTCGTTACCAAAACCACAATGCTCTCTGGCTCTTTATTAAACATATTGTTACCTCTACCCACAACCTACTTTTTCCCTACTTTTTGTCTAGCTAATTTGCGTGCTCGTCTTTCAGATCTTGGCTTATTTCTGCTTCTGAGAAATACTTCCTGTCTGCCCTCGTTGAGCTTCTAGTGAAGGAGACATACATAAGCAATTATAGTGTGATACATGCTTTGAAAGAAATTCATGGCTATAGGGAGTGCATATACAAAGGGAATATAGGTAATGGGCAAATATTTACATGTATGTTATTGGATACCAAATGGTATACATAGGATTCAGTAAATATTTGTAGAGTGAGTATTAGTATTATTTGCTTTAGAAAGCCTAATGATCAAACAGCAGTCTTTGGAGATAACGTTTTTCAAAATGTCATGTCTGTGCCATTAGAATCTTCTAGACTGCTCATTGAAAGGACAGATTCCAGGCCCCACTCTGAATCTCTTAATTTATAATTTTTGGAAATGATGCCCATGAGTCTACATTTTAAACTACCTGAATGATCCCTATAGAAAGAGAAAACTGGAGGTAGGAAGATCAGTTAGGGGATGTGTAATGGTCTAGGTGATAGAGACAAGTGCCTGAATTACAGTAATAACAGTGAAAGTAAATATGGAACATAAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGAGCAGCCATCTCTGGTTGGTCAGAAAAAGCTCCATAAAGCAGTTTTTGCTGAATCTTGAAAGATATACCTAAGGTCAAATGGTTAATTCTTTAATCATAACCTGCTAGAATTGATCTATAACCAAGGAAGGATAGTAAGGAATTAATAAGGCCACTCTCAACTCACTGCAAAGGAGTTAACTTTTTGAAGGCTGTAATACATAAATCTGCTGACTAGTCTCTTGAGACCTTTTGCTTTTACGTTTACTTTAGATTCAGTATTGAAAAGTAAGAGTAATGGACTTAAGCTGTGTTTTTCAACCTGTTTTGTTCAGTTCTAACATGTAATATTTTTTAAAAAATTATTCCTAAAGTTCTATGAGGAATTGTGCTGTTTCTGCCTCTCAGCAGTCCTTCCTTTTGCATTAAATCATAGGCATTTCTGTTACCATTCTTCAGCTTATTAATGAGATCCTCAGGTTATTTGGGAAATGTTTATTTGGTAATTAACTCTTTTTCACCTAGTTCATTTTTTTAACTTTTTTTTTTAAATAGCCGAGTTTCTTTTCATTGCTGAACTAAAATGGATGTGTTATTATTAGCTGAACTCCTTAGTTTACTTTAGAGTTCACCCTTTGTATGGTTCTATGGATTTTGACAAATTGTATAATGTCGTATATCTGCCATTATGGCATTATACAGAATAATTTTGCTGCCCTAAAAATCTCCCGAGTTCCACCTGCTCACCCATCCCTCCTCCTGAGCCCCTGGCAGCCACTGATCTTTTTACTGTCTGTATAGTTTTGCCTTTTCCAGAATGTCATGTAGTTGGAATCATACAGAATATAGCATTTTCAGACTGGCTTCTTTCACTTAGCAATATGCCGAGACCAGCTCGATTGTAGAGACCCTAACCCAGCGGCACTAGAGGAATTAAAGGCACACAGAAATATAGCGGTGTGGAGTGGGAAATCAGGGGTCTCACAGCCTTTTGACAGCAAGCCAGTGATAAGCATTGTTTCTATAGATTATAGATTAACTGAAAGTATTCCTTAGGGGAAATAAAGGGCTGGGCCGAAGTAAAGGGATGGGTCTGGCTAGTTATCTGCAGCAGGAGAATGTCCTTAAGGCACAGGTCGCTCATGATAGTTTGTGGTTTAAGAACGCCTTTAAGCGGTTTTCTGCCCCGGGTGGGCCAGGTGTTCCTTGCCCTCATTCCGGTAAACCCACAAGCTTCCAGCGTGGGTGTCATGGCCATCACGAACATGTCACAGTGCTGCAGAGATTTTGTTTATGGCCAGTTTTGGGGCCAGTTCCCAACAGCAATATGTGTTTAAGGTTCTTCCATGTCTTTTAATGATTTCATGCTGAATAATATTCCATCGTATTGATGTACCACAGCTTGTTTATCCATTCATCTATTGAAGGACATCTTGATTGCTTCCAAATTTTGGCAATTATGAATAAAGCTGGTATAAATATTCACATACAGGTTTGTGTGTGAATATATTTTCAACTCATTTTGGTTCACACCAAAGAGCACGATTGTGGGATCATATAGTAAGAGTATGTTTAGTTTTATGAGAAACTACAAGCTTTCTTCCAAAGTAGCTGTTGCATTTTGTATTCCCACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCATGCCCGGCCTGTTTTATTTTTTAAAGTCAATTTTCTTTCAAGAATTAGCTACTTTTTAGTATCTTTAATTAAAAATCTCATTAGAGAAGGAGGTTGGATATTTTGTTGAAGTGGGGTTTTTAAGTTACACATCCATTTGCTTTATTAGTGATTATGTCTAGTCCATGTTAACTTGAAAAATGAGACTATAATGAGACATTTTATTTAGGCTGCTACAAACAGTTTTAAATTTGGTCTTCACTTTATTTTAGTAACATTGATAGAGCTTATTTTTCCCAAAAGCTAAGTTAGAGATTATAGGACCAACCGAAGCAACTATTTTCTAAGAGTAATAATAAGTGACTCAGGTGCCAAATTTGTAGTTACCATCAACTATTGGAACCATATGAGTACTTAATGCCCTGGAGAGTCAAATATAATCTACTCTAATACAGAAAATAGAAATATTGAAAAACTGTAAATTGGATTTCATATTGTTAAAGCCACCTATAGCTTTAGAAACTCTGAACATTATTTTCTTAGAAAATGGATGTGTTCAATAAGAATAGAAATTATGTATTACTGTCTGCAACTCACTTTGTCTAATTATATCCAATTTATTCATCCAGTCAATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAACATTC	CCAT	A32319285C	BRCA2	NM_000059.4(BRCA2):c.276_317-722delinsCCAT	coding	Pathogenic
13	32319286	TCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGAACTACAAACTAGGAATTTAGGCAAACCTGTGTTAAAATCTTAGCTCATTCATTAATTGTGTCATGCTGGGCAAATCAGTCTCTCTGGCCTCTTTTTCCTCACTCGAAAAATGGAGACGATGAAAATAATGTCTCATAGGTTTGGATTAAATTAAATAATGTAGGTACTTAGTAAATGTTCTCTTTCATCCCTCCTTTGATAAATTTGCCAACTGAGATTTGCTGAATTACGTCTTTCTTATGCCAAAAAAACCTAGGACTTGTTTTGATGTTAATTAAACTAAACTATATTTCTGCAAGCTATCACAGAGGACAGAGATTATTTTACCGATATACTATAAGTATCATGATTTGGAAGGAGTTTCCCTGGCGTAGGTGCCGCATGTTTCTAAGCAATTATGTAATAAGATTATATATTCAGTCATTCAAATAATTATTACCTACTTGACATAAGTAATGAACTTTCCCTTTTCTTCAGAGTGTTAATCTCTAGTAAGGGGAATAAAGAGTACACAGATAAAGTATAGTGTAAGGTTGAATGTAGTATGTGCTAAGAGAAAAATATAAAAAAGTATAATGAGAGTTGAGAAGAAAGAGCAAATAGTATTGGGCAAAGTTAGGCAATTATTCCTTTGAGCTAAACCTTGAAGGATAGGTGAGAGATTAAGAAATTTGAAGATGTGGTAGAGTGATAATGTTCTAGGCAGAGGGAACAACATGAGGAAGAATATGTAGTGTGTTCAGGAAATAGCAAGTAATTCAGGTTGGCTTTGGTTGTTTTGTGTCTGAAAGGGACCAATAGACAAGGCAAAAAGGCAGACTAAAGGCAGGCATTGAATGCCAAGCTAAAGAAATTGAATTTGTTTGGTTGGTTGGTGAGCAGAGAAATCACATGCAAATTTCATCATGCTACTTATTGTGTCAAACCTTAGATCACCTCCCTTTGTCCTTATAGCAAAATCTAAACTTGATATGGCTTTCAAGTTCCTTTGTGATCAGGCCCCTGATTTACACTCTTGGCTCAGCTTGCCATATTCATCCTCTCACCTATCTTCATTTGCCATTCATTCCTACTGAATTTCTTTTCGTTACCAAAACCACAATGCTCTCTGGCTCTTTATTAAACATATTGTTACCTCTACCCACAACCTACTTTTTCCCTACTTTTTGTCTAGCTAATTTGCGTGCTCGTCTTTCAGATCTTGGCTTATTTCTGCTTCTGAGAAATACTTCCTGTCTGCCCTCGTTGAGCTTCTAGTGAAGGAGACATACATAAGCAATTATAGTGTGATACATGCTTTGAAAGAAATTCATGGCTATAGGGAGTGCATATACAAAGGGAATATAGGTAATGGGCAAATATTTACATGTATGTTATTGGATACCAAATGGTATACATAGGATTCAGTAAATATTTGTAGAGTGAGTATTAGTATTATTTGCTTTAGAAAGCCTAATGATCAAACAGCAGTCTTTGGAGATAACGTTTTTCAAAATGTCATGTCTGTGCCATTAGAATCTTCTAGACTGCTCATTGAAAGGACAGATTCCAGGCCCCACTCTGAATCTCTTAATTTATAATTTTTGGAAATGATGCCCATGAGTCTACATTTTAAACTACCTGAATGATCCCTATAGAAAGAGAAAACTGGAGGTAGGAAGATCAGTTAGGGGATGTGTAATGGTCTAGGTGATAGAGACAAGTGCCTGAATTACAGTAATAACAGTGAAAGTAAATATGGAACATAAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGAGCAGCCATCTCTGGTTGGTCAGAAAAAGCTCCATAAAGCAGTTTTTGCTGAATCTTGAAAGATATACCTAAGGTCAAATGGTTAATTCTTTAATCATAACCTGCTAGAATTGATCTATAACCAAGGAAGGATAGTAAGGAATTAATAAGGCCACTCTCAACTCACTGCAAAGGAGTTAACTTTTTGAAGGCTGTAATACATAAATCTGCTGACTAGTCTCTTGAGACCTTTTGCTTTTACGTTTACTTTAGATTCAGTATTGAAAAGTAAGAGTAATGGACTTAAGCTGTGTTTTTCAACCTGTTTTGTTCAGTTCTAACATGTAATATTTTTTAAAAAATTATTCCTAAAGTTCTATGAGGAATTGTGCTGTTTCTGCCTCTCAGCAGTCCTTCCTTTTGCATTAAATCATAGGCATTTCTGTTACCATTCTTCAGCTTATTAATGAGATCCTCAGGTTATTTGGGAAATGTTTATTTGGTAATTAACTCTTTTTCACCTAGTTCATTTTTTTAACTTTTTTTTTTAAATAGCCGAGTTTCTTTTCATTGCTGAACTAAAATGGATGTGTTATTATTAGCTGAACTCCTTAGTTTACTTTAGAGTTCACCCTTTGTATGGTTCTATGGATTTTGACAAATTGTATAATGTCGTATATCTGCCATTATGGCATTATACAGAATAATTTTGCTGCCCTAAAAATCTCCCGAGTTCCACCTGCTCACCCATCCCTCCTCCTGAGCCCCTGGCAGCCACTGATCTTTTTACTGTCTGTATAGTTTTGCCTTTTCCAGAATGTCATGTAGTTGGAATCATACAGAATATAGCATTTTCAGACTGGCTTCTTTCACTTAGCAATATGCCGAGACCAGCTCGATTGTAGAGACCCTAACCCAGCGGCACTAGAGGAATTAAAGGCACACAGAAATATAGCGGTGTGGAGTGGGAAATCAGGGGTCTCACAGCCTTTTGACAGCAAGCCAGTGATAAGCATTGTTTCTATAGATTATAGATTAACTGAAAGTATTCCTTAGGGGAAATAAAGGGCTGGGCCGAAGTAAAGGGATGGGTCTGGCTAGTTATCTGCAGCAGGAGAATGTCCTTAAGGCACAGGTCGCTCATGATAGTTTGTGGTTTAAGAACGCCTTTAAGCGGTTTTCTGCCCCGGGTGGGCCAGGTGTTCCTTGCCCTCATTCCGGTAAACCCACAAGCTTCCAGCGTGGGTGTCATGGCCATCACGAACATGTCACAGTGCTGCAGAGATTTTGTTTATGGCCAGTTTTGGGGCCAGTTCCCAACAGCAATATGTGTTTAAGGTTCTTCCATGTCTTTTAATGATTTCATGCTGAATAATATTCCATCGTATTGATGTACCACAGCTTGTTTATCCATTCATCTATTGAAGGACATCTTGATTGCTTCCAAATTTTGGCAATTATGAATAAAGCTGGTATAAATATTCACATACAGGTTTGTGTGTGAATATATTTTCAACTCATTTTGGTTCACACCAAAGAGCACGATTGTGGGATCATATAGTAAGAGTATGTTTAGTTTTATGAGAAACTACAAGCTTTCTTCCAAAGTAGCTGTTGCATTTTGTATTCCCACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCATGCCCGGCCTGTTTTATTTTTTAAAGTCAATTTTCTTTCAAGAATTAGCTACTTTTTAGTATCTTTAATTAAAAATCTCATTAGAGAAGGAGGTTGGATATTTTGTTGAAGTGGGGTTTTTAAGTTACACATCCATTTGCTTTATTAGTGATTATGTCTAGTCCATGTTAACTTGAAAAATGAGACTATAATGAGACATTTTATTTAGGCTGCTACAAACAGTTTTAAATTTGGTCTTCACTTTATTTTAGTAACATTGATAGAGCTTATTTTTCCCAAAAGCTAAGTTAGAGATTATAGGACCAACCGAAGCAACTATTTTCTAAGAGTAATAATAAGTGACTCAGGTGCCAAATTTGTAGTTACCATCAACTATTGGAACCATATGAGTACTTAATGCCCTGGAGAGTCAAATATAATCTACTCTAATACAGAAAATAGAAATATTGAAAAACTGTAAATTGGATTTCATATTGTTAAAGCCACCTATAGCTTTAGAAACTCTGAACATTATTTTCTTAGAAAATGGATGTGTTCAATAAGAATAGAAATTATGTATTACTGTCTGCAACTCACTTTGTCTAATTATATCCAATTTATTCATCCAGTCAATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAAC	CCAT	T32319286C	BRCA2	NM_000059.4(BRCA2):c.277_317-726delinsCCAT	coding	Pathogenic
13	32319321	CTT	C	T32319322A	BRCA2	NM_000059.4(BRCA2):c.313_314del:p.Leu105fs	coding	Pathogenic
13	32324893	G	GCCACTGTGCTCGGGGCATCCTTTTTGGGGGGTAATCAGCAAACTGAAAAACCTCTTCTTACAACTCCCTATACATTCTCATTCCCAGTATAGAGGAGACTTTTTGTTTTTAAACACTTCCAAAGAATGCAAATTTATAATCCAGAGTATATACATTCTCACTGAATTATTGTACTGTTTCAGGAAGGAATGTTCCCAATAGTAGACATAAAAGTCTTCGCACAGTGAAAACTAAAATGGATCAAGCAGATGATGTTTCCTGTCCACTTCTAAATTCTTGTCTTAGTGAAAGGTATGATGAAGCTATTATATTAAAATATTTAAATGAAACATTTTCCTACATATATTTGTTCTATAAAGATGAATCTGATTTTTATGCTAATATTTTGGCTAAGAGCCTGGTAGAAGATCTTACATTTTTAAATAATCTTTTAGGTTGAGTCCTTTAATAGAATAGTTTTTACATTAGAAACATGTAAGTTGTTGTTCTTGTGATGTTGAATTGGCTGGTTTTCTGTATATTCTGTGATTTTTTAAGTAACAAAAATAACAGTGGTGAAAAGCAGTAAGTCAGTCCTTGAATTATCAATTTAAAATAAATTGTGTACTTTTCATCTTTGGAGAGAATATGATTTACTTTACAAATTTTTTTTTTGTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCACCCAGGCTGTAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCTAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAGACTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCTACTTTACAAAATTTTTGAGTTTAAAATACACGGTTTCCAGCAGCTGAAATTTGTGAGTACATATGTGTTGGCATTTTAAACATCACTTGATGATTATTTAATGCTTCATGAGAGATTTACTTTTTAAAATGTAATATAAAATATCTAAAAGTAGTATTCCAACAATTTATATGAATGAGAATCTTCTTTTAAAAATAAGATAAACTAGTTTTTGCCAGTTTTTTAAAATAACCTAAGGGATTTGCTTTGTTTTATTTTAGTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAGGTATGATTAAAAACAATGCTTTTTATTCTTAGAATACTAGAAATGTTAATAAAAATAAAACTTAACAATTTTCCCCTTTTTTTACCCCCAGTGGTATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAGGTAAATATTCTACCTGGTTTATTTTTATGACTTAGTAATTGAGAATTTGACAATAGCGTTATACCTTTGCCCTGAGATTTACAAATCTGTACCTAGCATTCTGCCTCATACAGGCAATTCAGTAAACGTTAAGTGAAATAAAGAGTGAATGAAAAAATAATATCCTTAATGATCAGGGCATTTCTATAAAAAATAAACTATTTTCTTTCCTCCCAGGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAACTGCAATATTTATCCATTCATTAAACTGTAAACTCTTTGCAGTCTCACCACAGTTTCTCTTACTAGGATCTAGAAATATTTCCTATTGTAGGCTGGTTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGAAGGGTGGATCACGTGAGGCCAGGAGTTTGAGAGCAGCCTGTACAACGTGGTGAAACCCTGTCTCTACTAAAAATAAAAAAATTGGCCAGGTGTGGTAACACACACCTGTAATCCCAGCTACCTGGGGGCTGAGGCATGGGAATTGCTTGAACCTGGGAGGCAGAGGGTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTGAAAAGTTGTGACTATTTTTTTTTTTTTTAATTGAGACAAGGTTCTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCGTCGCAGTTCACTGCAGCCTCAACCTCCCAGGCTCAATTAATCTTTCTTCCTCTTAGCCTTCCAAGTATCTGGGACTACAGGTACCATGCCACCAGTATACTACCAGTCCTGGCTAATTTTTTTTGTATTTTTTGTAGAGATGGGTCCCGCCATGTTGCCCACACTTGTCTCAAATTCCTGAGCTCAAGCAGCCACCACACCCACCTGTGACCATTCTTTTTTATTTTTATGAGATAATAAACATACAAGTTTAAAGAAATGTCTGTACATAAATGTGATTATAGTACAAACAAGTATTTGGAAGTTCATCTAAACAAATGCATCACAGTTTATAGGCAAAACATGAAAGATTGGATAATAATGGGAAAAAAAGTAAATATTCACCAACATTCTTTCTCTTTTTTCTTTTTCGTTTTTTTTTTTTTTGAGGCGGAGTCTTGCCCTTTTGCCCAGGCTGGAGTACAGTGGCACCATCTCGGCTCACAGCAACCTCTGCCTTCTGGGTTCAGGCGATTCTCCTGCCTTAGACTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGACTAATTTTTGTATTTTTAGTGGAGAGGAGGTTTCACTGGGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAAGTGATTCGTTTGTCTCAGCCACATTTTTTTTGTCTAAGAAGATACTGGGCCAGATCATTGTTTCTCAAATTGCAGATTATGACCTGTTCATAGTTGTGAAACTTATTTTGTGAGTCGTATATGCTCTTTTTAAATGAAATGAAAATTCTGAGTACATCACATGTAGTTAGGGTTTAGAAAATAAAAAATACAATATATCTAGTTAAATTTGGACTTCAGGTAAACAGCGAATAATTTTGAGATATACTTAACACTAAAAAATTATTCATTGTTTATCTGAAATTCAAATTTAATGAGGTGTCCTGTATTTTATCCAGAAGTCCTACACACAGTAAAGTTTGTTTTGTAAAACTTTTTTACTTAACCTTTGTGTGCCCATGTGTGTGTGCAGTCATAAAGTGTGTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCT	G32328984C	BRCA2	NM_000059.4(BRCA2):c.317-182_632-460dup	noncoding	Pathogenic
13	32325080	GA	G	A32325082T	BRCA2	NM_000059.4(BRCA2):c.323del:p.Asn108fs	coding	Pathogenic
13	32325101	TAA	T	A32325104G	BRCA2	NM_000059.4(BRCA2):c.345_346del:p.Leu117fs	coding	Pathogenic
13	32325125	T	TA	T32325130A	BRCA2	NM_000059.4(BRCA2):c.370dup:p.Met124fs	coding	Pathogenic
13	32325162	C	CTA	A32325165T	BRCA2	NM_000059.4(BRCA2):c.404_405dup:p.Asn136Ter	coding	Pathogenic
13	32325183	AG	A	G32325185T	BRCA2	NM_000059.4(BRCA2):c.425+1del	coding	Pathogenic
13	32326125	T	TGTAA	C32326130G	BRCA2	NM_000059.4(BRCA2):c.451_454dup:p.Thr152fs	coding	Pathogenic
13	32326126	G	GT	A32326128T	BRCA2	NM_000059.4(BRCA2):c.452dup:p.Thr152fs	coding	Pathogenic/Likely_pathogenic
13	32326226	CT	C	T32326233A	BRCA2	NM_000059.4(BRCA2):c.476-9del	noncoding	Benign
13	32326234	A	AC	A32326240C	BRCA2	NM_000059.4(BRCA2):c.476-3dup	noncoding	Benign
13	32326238	CCAG	T	C32326238T	BRCA2	NM_000059.4(BRCA2):c.476-4_476-1delinsT	noncoding	Pathogenic/Likely_pathogenic
13	32326243	GGTATGTGGGA	G	A32326246T	BRCA2	NM_000059.4(BRCA2):c.480_489del:p.Gly162fs	coding	Pathogenic
13	32326256	T	TG	T32326257G	BRCA2	NM_000059.4(BRCA2):c.490_491insG:p.Leu164fs	coding	Pathogenic
13	32326272	AG	A	G32326273T	BRCA2	NM_000059.4(BRCA2):c.507del:p.Lys169fs	coding	Pathogenic
13	32326496	CAGGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGG	C	A32326497T	BRCA2	NM_000059.4(BRCA2):c.517-2_631+1del	noncoding	Pathogenic
13	32326534	AG	A	G32326536A	BRCA2	NM_000059.4(BRCA2):c.554del:p.Gly185fs	coding	Pathogenic
13	32326575	TA	T	A32326576G	BRCA2	NM_000059.4(BRCA2):c.594del:p.Ala199fs	coding	Pathogenic
13	32326601	A	ACTGTG	C32326609G	BRCA2	NM_000059.4(BRCA2):c.622_626dup:p.Ile210fs	coding	Pathogenic
13	32329428	AT	A	T32329433A	BRCA2	NM_000059.4(BRCA2):c.632-10del	noncoding	Benign/Likely_benign
13	32329453	AG	A	G32329454A	BRCA2	NM_000059.4(BRCA2):c.643del:p.Glu215fs	coding	Pathogenic
13	32329456	AG	A	G32329457C	BRCA2	NM_000059.4(BRCA2):c.646del:p.Ala216fs	coding	Pathogenic
13	32329463	GA	G	A32329466C	BRCA2	NM_000059.4(BRCA2):c.655del:p.Thr219fs	coding	Pathogenic
13	32329468	T	TG	T32329470G	BRCA2	NM_000059.4(BRCA2):c.658dup:p.Val220fs	coding	Pathogenic
13	32329476	CT	C	T32329477C	BRCA2	NM_000059.4(BRCA2):c.666del:p.His223fs	coding	Pathogenic
13	32330920	AT	A	T32330921G	BRCA2	NM_000059.4(BRCA2):c.684del:p.Asn228fs	coding	Pathogenic
13	32330928	AG	GA	A32330928G	BRCA2	NM_000059.4(BRCA2):c.691_692delinsGA:p.Ser231Asp	coding	Pathogenic
13	32330929	GC	G	C32330930T	BRCA2	NM_000059.4(BRCA2):c.693del:p.Tyr232fs	coding	Pathogenic
13	32330952	AG	A	G32330953T	BRCA2	NM_000059.4(BRCA2):c.716del:p.Ser239fs	coding	Pathogenic
13	32330957	GA	G	A32330959G	BRCA2	NM_000059.4(BRCA2):c.722del:p.Lys241fs	coding	Pathogenic
13	32330960	GA	G	A32330965T	BRCA2	NM_000059.4(BRCA2):c.728del:p.Asn243fs	coding	Pathogenic
13	32330965	AT	A	T32330966G	BRCA2	NM_000059.4(BRCA2):c.729del:p.Asn243fs	coding	Pathogenic
13	32330967	G	GAT	G32330971T	BRCA2	NM_000059.4(BRCA2):c.732_733dup:p.Arg245fs	coding	Pathogenic
13	32330995	GT	G	T32330996G	BRCA2	NM_000059.4(BRCA2):c.759del:p.Ser253fs	coding	Pathogenic
13	32332335	CA	C	A32332337T	BRCA2	NM_000059.4(BRCA2):c.859del:p.Met287fs	coding	Pathogenic
13	32332364	TA	T	A32332365T	BRCA2	NM_000059.4(BRCA2):c.887del:p.Tyr296fs	coding	Pathogenic
13	32332376	G	GT	A32332378T	BRCA2	NM_000059.4(BRCA2):c.899dup:p.Asp301fs	coding	Pathogenic
13	32332376	GT	G	T32332377A	BRCA2	NM_000059.4(BRCA2):c.899del:p.Val300fs	coding	Pathogenic
13	32332382	A	AC	T32332385C	BRCA2	NM_000059.4(BRCA2):c.906dup:p.Ser303fs	coding	Pathogenic
13	32332408	AT	A	T32332409G	BRCA2	NM_000059.4(BRCA2):c.931del:p.Cys311fs	coding	Pathogenic
13	32332427	AC	A	C32332428A	BRCA2	NM_000059.4(BRCA2):c.950del:p.Thr317fs	coding	Pathogenic
13	32332436	C	CT	A32332438T	BRCA2	NM_000059.4(BRCA2):c.959dup:p.Gln321fs	coding	Pathogenic
13	32332439	CA	C	A32332444G	BRCA2	NM_000059.4(BRCA2):c.966del:p.Lys322_Val323insTer	coding	Pathogenic
13	32332439	C	CA	G32332445A	BRCA2	NM_000059.4(BRCA2):c.966dup:p.Val323fs	coding	Pathogenic
13	32332471	AAT	A	A32332472T	BRCA2	NM_000059.4(BRCA2):c.994_995del:p.Ile332fs	coding	Pathogenic
13	32332472	AT	A	T32332476C	BRCA2	NM_000059.4(BRCA2):c.998del:p.Phe333fs	coding	Pathogenic
13	32332490	GC	G	C32332491T	BRCA2	NM_000059.4(BRCA2):c.1013del:p.Ala338fs	coding	Pathogenic
13	32332510	TA	T	A32332515C	BRCA2	NM_000059.4(BRCA2):c.1037del:p.Asn346fs	coding	Pathogenic
13	32332517	C	CA	G32332520A	BRCA2	NM_000059.4(BRCA2):c.1041dup:p.Val348fs	coding	Pathogenic
13	32332526	GA	G	A32332531T	BRCA2	NM_000059.4(BRCA2):c.1053del:p.Lys351fs	coding	Pathogenic
13	32332542	T	TA	T32332544A	BRCA2	NM_000059.4(BRCA2):c.1065dup:p.Ser356fs	coding	Pathogenic
13	32332549	AG	A	G32332550T	BRCA2	NM_000059.4(BRCA2):c.1072del:p.Val358fs	coding	Pathogenic
13	32332606	TG	T	G32332607A	BRCA2	NM_000059.4(BRCA2):c.1129del:p.Glu377fs	coding	Pathogenic
13	32332606	T	TG	A32332608G	BRCA2	NM_000059.4(BRCA2):c.1129dup:p.Glu377fs	coding	Pathogenic
13	32332610	AG	A	G32332611T	BRCA2	NM_000059.4(BRCA2):c.1133del:p.Ser378fs	coding	Pathogenic
13	32332630	CAAGG	C	G32332634T	BRCA2	NM_000059.4(BRCA2):c.1156_1159del:p.Glu386fs	coding	Pathogenic
13	32332647	CT	C	T32332650G	BRCA2	NM_000059.4(BRCA2):c.1172del:p.Leu391fs	coding	Pathogenic
13	32332647	CTT	C	T32332649G	BRCA2	NM_000059.4(BRCA2):c.1171_1172del:p.Leu391fs	coding	Pathogenic
13	32332680	CA	C	A32332681G	BRCA2	NM_000059.4(BRCA2):c.1203del:p.Gly402fs	coding	Pathogenic
13	32332683	GT	G	T32332684C	BRCA2	NM_000059.4(BRCA2):c.1206del:p.Gly402_Leu403insTer	coding	Pathogenic
13	32332685	C	CT	A32332687T	BRCA2	NM_000059.4(BRCA2):c.1208dup:p.Asn404fs	coding	Pathogenic
13	32332708	AATAC	A	A32332709C	BRCA2	NM_000059.4(BRCA2):c.1231_1234del:p.Ile411fs	coding	Pathogenic
13	32332750	AG	A	G32332751A	BRCA2	NM_000059.4(BRCA2):c.1273del:p.Glu425fs	coding	Pathogenic
13	32332758	AC	A	C32332760T	BRCA2	NM_000059.4(BRCA2):c.1282del:p.Leu428fs	coding	Pathogenic
13	32332778	A	AAAAG	T32332792A	BRCA2	NM_000059.4(BRCA2):c.1310_1313dup:p.Asp438fs	coding	Pathogenic
13	32332791	ATTTT	A	T32332792C	BRCA2	NM_000059.4(BRCA2):c.1314_1317del:p.Phe439fs	coding	Pathogenic
13	32332800	CT	C	T32332802C	BRCA2	NM_000059.4(BRCA2):c.1324del:p.Ser442fs	coding	Pathogenic
13	32332828	TAG	T	A32332829C	BRCA2	NM_000059.4(BRCA2):c.1351_1352del:p.Ser451fs	coding	Pathogenic
13	32332830	G	GC	T32332833C	BRCA2	NM_000059.4(BRCA2):c.1354dup:p.Leu452fs	coding	Pathogenic
13	32332841	TC	T	C32332842A	BRCA2	NM_000059.4(BRCA2):c.1364del:p.Lys454_Ser455insTer	coding	Pathogenic
13	32332877	AAGAG	A	G32332881T	BRCA2	NM_000059.4(BRCA2):c.1403_1406del:p.Arg468fs	coding	Pathogenic
13	32332879	GAGAGATGA	G	A32332884C	BRCA2	NM_000059.4(BRCA2):c.1406_1413del:p.Asp469fs	coding	Pathogenic
13	32332881	GA	G	A32332882G	BRCA2	NM_000059.4(BRCA2):c.1404del:p.Asp469fs	coding	Pathogenic
13	32332926	CA	C	A32332927G	BRCA2	NM_000059.4(BRCA2):c.1449del:p.Ala483_Val484insTer	coding	Pathogenic
13	32332941	T	TA	T32332943A	BRCA2	NM_000059.4(BRCA2):c.1464dup:p.Ser489fs	coding	Pathogenic
13	32332965	CTTCA	C	C32332968T	BRCA2	NM_000059.4(BRCA2):c.1490_1493del:p.Ser497fs	coding	Pathogenic
13	32333003	AG	A	G32333004A	BRCA2	NM_000059.4(BRCA2):c.1526del:p.Arg509fs	coding	Pathogenic
13	32333034	GT	G	T32333039C	BRCA2	NM_000059.4(BRCA2):c.1561del:p.Ser521fs	coding	Pathogenic
13	32333048	AT	A	T32333049G	BRCA2	NM_000059.4(BRCA2):c.1571del:p.Met524fs	coding	Pathogenic
13	32333058	CA	C	A32333061C	BRCA2	NM_000059.4(BRCA2):c.1583del:p.Asn528fs	coding	Pathogenic
13	32333062	CTT	C	T32333064A	BRCA2	NM_000059.4(BRCA2):c.1586_1587del:p.Asn528_Phe529insTer	coding	Pathogenic
13	32333065	TAA	T	A32333070G	BRCA2	NM_000059.4(BRCA2):c.1592_1593del:p.Lys531fs	coding	Pathogenic
13	32333076	CT	C	T32333077G	BRCA2	NM_000059.4(BRCA2):c.1599del:p.Glu534fs	coding	Pathogenic
13	32333087	G	GA	G32333091A	BRCA2	NM_000059.4(BRCA2):c.1612dup:p.Ser538fs	coding	Pathogenic
13	32333130	AC	A	C32333131T	BRCA2	NM_000059.4(BRCA2):c.1653del:p.Ser552fs	coding	Pathogenic
13	32333134	CT	C	T32333136A	BRCA2	NM_000059.4(BRCA2):c.1658del:p.Leu553fs	coding	Pathogenic
13	32333143	AAATTT	A	T32333148G	BRCA2	NM_000059.4(BRCA2):c.1670_1674del:p.Asn556_Leu557insTer	coding	Pathogenic
13	32333233	GAAAAC	G	A32333237T	BRCA2	NM_000059.4(BRCA2):c.1759_1763del:p.Lys586_Thr587insTer	coding	Pathogenic
13	32333238	C	CAT	A32333240T	BRCA2	NM_000059.4(BRCA2):c.1761_1762insTA:p.Asn588Ter	coding	Pathogenic
13	32333241	ATAAGT	A	A32333243T	BRCA2	NM_000059.4(BRCA2):c.1765_1769del:p.Lys589fs	coding	Pathogenic
13	32333242	T	TA	G32333245A	BRCA2	NM_000059.4(BRCA2):c.1766dup:p.Phe590fs	coding	Pathogenic
13	32333295	CGA	C	G32333296A	BRCA2	NM_000059.4(BRCA2):c.1818_1819del:p.Lys607fs	coding	Pathogenic
13	32333303	CAA	C	A32333307T	BRCA2	NM_000059.4(BRCA2):c.1829_1830del:p.Lys610fs	coding	Pathogenic
13	32333303	C	CA	T32333309A	BRCA2	NM_000059.4(BRCA2):c.1830dup:p.Ser611fs	coding	Pathogenic
13	32333328	CA	AG	C32333328A	BRCA2	NM_000059.4(BRCA2):c.1850_1851delinsAG:p.Ser617Ter	coding	Pathogenic
13	32333328	CA	C	A32333329G	BRCA2	NM_000059.4(BRCA2):c.1851del:p.Ala618fs	coding	Pathogenic
13	32333336	TTTGAAGC	T	T32333337A	BRCA2	NM_000059.4(BRCA2):c.1859_1865del:p.Gln619_Phe620insTer	coding	Pathogenic
13	32333349	CTT	C	T32333352G	BRCA2	NM_000059.4(BRCA2):c.1874_1875del:p.Ala624_Phe625insTer	coding	Pathogenic
13	32333365	T	TG	A32333366G	BRCA2	NM_000059.4(BRCA2):c.1887_1888insG:p.Thr630fs	coding	Pathogenic
13	32333366	AC	T	A32333366T	BRCA2	NM_000059.4(BRCA2):c.1888_1889delinsT:p.Thr630fs	coding	Pathogenic
13	32333394	CTG	C	G32333396C	BRCA2	NM_000059.4(BRCA2):c.1909+9_1909+10del	noncoding	Benign/Likely_benign
13	32336265	GT	G	T32336268A	BRCA2	NM_000059.4(BRCA2):c.1913del:p.Leu638fs	coding	Pathogenic
13	32336274	AT	A	T32336276C	BRCA2	NM_000059.4(BRCA2):c.1921del:p.Ser641fs	coding	Pathogenic
13	32336282	GT	G	T32336283G	BRCA2	NM_000059.4(BRCA2):c.1928del:p.Val643fs	coding	Pathogenic
13	32336331	T	TA	C32336334A	BRCA2	NM_000059.4(BRCA2):c.1978dup:p.Thr660fs	coding	Pathogenic
13	32336371	AAATGAAACATGTTCTAATAATAC	A	A32336373G	BRCA2	NM_000059.4(BRCA2):c.2018_2040del:p.Asn673fs	coding	Pathogenic
13	32336390	AAT	A	T32336392C	BRCA2	NM_000059.4(BRCA2):c.2037_2038del:p.Thr680fs	coding	Pathogenic
13	32336431	AT	A	T32336432G	BRCA2	NM_000059.4(BRCA2):c.2077del:p.Cys693fs	coding	Pathogenic
13	32336450	C	CAGT	T32336454A	BRCA2	NM_000059.4(BRCA2):c.2096_2098dup:p.Leu700Ter	coding	Pathogenic
13	32336451	AG	A	G32336452T	BRCA2	NM_000059.4(BRCA2):c.2097del:p.Gln699fs	coding	Pathogenic
13	32336452	GT	G	T32336454A	BRCA2	NM_000059.4(BRCA2):c.2099del:p.Leu700fs	coding	Pathogenic
13	32336459	AT	A	T32336461A	BRCA2	NM_000059.4(BRCA2):c.2106del:p.Thr703fs	coding	Pathogenic/Likely_pathogenic
13	32336461	T	TA	C32336463A	BRCA2	NM_000059.4(BRCA2):c.2107dup:p.Thr703fs	coding	Pathogenic
13	32336485	A	ATGCC	A32336493C	BRCA2	NM_000059.4(BRCA2):c.2134_2137dup:p.Gln713fs	coding	Pathogenic
13	32336492	CAGGAAGG	C	G32336494C	BRCA2	NM_000059.4(BRCA2):c.2139_2145del:p.Gln713fs	coding	Pathogenic
13	32336517	CA	C	A32336522G	BRCA2	NM_000059.4(BRCA2):c.2167del:p.Ser723fs	coding	Pathogenic
13	32336517	C	CA	G32336523A	BRCA2	NM_000059.4(BRCA2):c.2167dup:p.Ser723fs	coding	Pathogenic/Likely_pathogenic
13	32336541	TAAAAGAA	T	A32336542G	BRCA2	NM_000059.4(BRCA2):c.2187_2193del:p.Ile729fs	coding	Pathogenic
13	32336558	G	GC	T32336560C	BRCA2	NM_000059.4(BRCA2):c.2204dup:p.Ala736fs	coding	Pathogenic
13	32336601	G	GT	G32336603T	BRCA2	NM_000059.4(BRCA2):c.2247dup:p.Asp750Ter	coding	Pathogenic
13	32336607	C	CT	G32336609T	BRCA2	NM_000059.4(BRCA2):c.2253dup:p.Asp752Ter	coding	Pathogenic
13	32336618	TC	T	C32336621A	BRCA2	NM_000059.4(BRCA2):c.2266del:p.Gln756fs	coding	Pathogenic
13	32336629	TC	T	C32336630T	BRCA2	NM_000059.4(BRCA2):c.2275del:p.Leu759fs	coding	Pathogenic
13	32336663	AT	A	T32336667A	BRCA2	NM_000059.4(BRCA2):c.2312del:p.Ile770_Leu771insTer	coding	Pathogenic
13	32336693	TCAAACCTAGTCATG	T	C32336694A	BRCA2	NM_000059.4(BRCA2):c.2339_2352del:p.Ser780fs	coding	Pathogenic
13	32336699	CT	C	T32336700A	BRCA2	NM_000059.4(BRCA2):c.2345del:p.Leu782fs	coding	Pathogenic
13	32336723	GAATCATACAA	G	C32336727G	BRCA2	NM_000059.4(BRCA2):c.2372_2381del:p.Ser791fs	coding	Pathogenic
13	32336753	GGTAACAATTATGAA	G	G32336754T	BRCA2	NM_000059.4(BRCA2):c.2399_2412del:p.Gly800fs	coding	Pathogenic
13	32336777	G	GA	T32336780A	BRCA2	NM_000059.4(BRCA2):c.2424dup:p.Leu809fs	coding	Pathogenic
13	32336789	AATATTCCC	A	A32336792G	BRCA2	NM_000059.4(BRCA2):c.2437_2444del:p.Ile813fs	coding	Pathogenic
13	32336819	TG	T	G32336820T	BRCA2	NM_000059.4(BRCA2):c.2465del:p.Cys822fs	coding	Pathogenic
13	32336830	T	TGAAAATTATAAAAACGGGCGGGTGGTGGTTGGCGCGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCGGGACAGTCGCGGCGCTGACGCCCGCGGGCCCCAGCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T32336847G	BRCA2	NM_000059.4(BRCA2):c.2491_2492insGGCGGGTGGTGGTTGGCGCGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCGGGACAGTCGCGGCGCTGACGCCCGCGGGCCCCAGCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTATAAAAACG:p.Val831fs	coding	Pathogenic
13	32336860	AC	A	C32336862T	BRCA2	NM_000059.4(BRCA2):c.2507del:p.Pro836fs	coding	Pathogenic
13	32336887	A	AC	T32336890C	BRCA2	NM_000059.4(BRCA2):c.2534dup:p.Ser846fs	coding	Pathogenic
13	32336888	C	CCT	T32336891C	BRCA2	NM_000059.4(BRCA2):c.2534_2535dup:p.Ser846fs	coding	Pathogenic
13	32336889	C	CTTCA	A32336894T	BRCA2	NM_000059.4(BRCA2):c.2535_2538dup:p.Arg847fs	coding	Pathogenic
13	32336895	GA	G	A32336898G	BRCA2	NM_000059.4(BRCA2):c.2543del:p.Lys848fs	coding	Pathogenic/Likely_pathogenic
13	32336902	ACAATT	A	T32336906C	BRCA2	NM_000059.4(BRCA2):c.2551_2555del:p.Phe851fs	coding	Pathogenic
13	32336936	CA	C	A32336943T	BRCA2	NM_000059.4(BRCA2):c.2588del:p.Asn863fs	coding	Pathogenic
13	32336966	TC	T	C32336967A	BRCA2	NM_000059.4(BRCA2):c.2612del:p.Ile870_Ser871insTer	coding	Pathogenic
13	32336967	CA	C	A32336972T	BRCA2	NM_000059.4(BRCA2):c.2617del:p.Lys872_Ile873insTer	coding	Pathogenic
13	32336976	CT	C	T32336977G	BRCA2	NM_000059.4(BRCA2):c.2622del:p.Val875fs	coding	Pathogenic
13	32337008	GA	G	A32337009C	BRCA2	NM_000059.4(BRCA2):c.2654del:p.Asp885fs	coding	Pathogenic
13	32337035	G	GT	A32337037T	BRCA2	NM_000059.4(BRCA2):c.2681dup:p.Ala895fs	coding	Pathogenic
13	32337059	GCTTTAGGA	G	C32337060A	BRCA2	NM_000059.4(BRCA2):c.2705_2712del:p.Ala902fs	coding	Pathogenic
13	32337065	G	GGAAA	T32337070G	BRCA2	NM_000059.4(BRCA2):c.2711_2714dup:p.Asn905fs	coding	Pathogenic
13	32337099	C	CTTGTG	A32337106T	BRCA2	NM_000059.4(BRCA2):c.2746_2750dup:p.Asn918fs	coding	Pathogenic
13	32337126	ACTCT	A	C32337127A	BRCA2	NM_000059.4(BRCA2):c.2772_2775del:p.Asn924fs	coding	Pathogenic
13	32337153	CAG	C	A32337154G	BRCA2	NM_000059.4(BRCA2):c.2799_2800del:p.Thr933_Gly934insTer	coding	Pathogenic
13	32337154	AG	A	G32337156T	BRCA2	NM_000059.4(BRCA2):c.2801del:p.Gly934fs	coding	Pathogenic
13	32337239	C	CA	T32337241A	BRCA2	NM_000059.4(BRCA2):c.2885dup:p.His962fs	coding	Pathogenic
13	32337243	TA	T	A32337248T	BRCA2	NM_000059.4(BRCA2):c.2893del:p.Lys964_Met965insTer	coding	Pathogenic
13	32337348	GT	G	T32337349C	BRCA2	NM_000059.4(BRCA2):c.2994del:p.Pro999fs	coding	Pathogenic
13	32337366	GT	G	T32337370G	BRCA2	NM_000059.4(BRCA2):c.3015del:p.Phe1005fs	coding	Pathogenic
13	32337424	CATTA	C	T32337426G	BRCA2	NM_000059.4(BRCA2):c.3071_3074del:p.Ile1024fs	coding	Pathogenic
13	32337427	TA	T	A32337429G	BRCA2	NM_000059.4(BRCA2):c.3074del:p.Lys1025fs	coding	Pathogenic
13	32337473	AC	A	C32337474T	BRCA2	NM_000059.4(BRCA2):c.3119del:p.Thr1040fs	coding	Pathogenic
13	32337477	G	GT	A32337481T	BRCA2	NM_000059.4(BRCA2):c.3125dup:p.Leu1042fs	coding	Pathogenic
13	32337477	GTT	G	T32337479A	BRCA2	NM_000059.4(BRCA2):c.3124_3125del:p.Leu1042fs	coding	Pathogenic
13	32337500	AA	T	A32337500T	BRCA2	NM_000059.4(BRCA2):c.3145_3146delinsT:p.Asn1049fs	coding	Pathogenic
13	32337502	T	TA	C32337504A	BRCA2	NM_000059.4(BRCA2):c.3148dup:p.Thr1050fs	coding	Pathogenic
13	32337550	T	TAATACTGTATCTGCTGCATAAAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A32337565T	BRCA2	NM_000059.4(BRCA2):c.3209_3210insTGCATAAAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATACTGTATCTGC:p.Ala1070_His1071insAlaTer	coding	Pathogenic
13	32337585	T	TAGTAG	T32337586A	BRCA2	NM_000059.4(BRCA2):c.3230_3231insAGTAG:p.Ser1079fs	coding	Pathogenic
13	32337634	CA	C	A32337636G	BRCA2	NM_000059.4(BRCA2):c.3281del:p.Lys1094fs	coding	Pathogenic
13	32337693	AACTTTCT	A	T32337697A	BRCA2	NM_000059.4(BRCA2):c.3342_3348del:p.Ser1115fs	coding	Pathogenic
13	32337706	ATT	A	T32337707A	BRCA2	NM_000059.4(BRCA2):c.3352_3353del:p.Leu1118fs	coding	Pathogenic
13	32337708	TAGAAG	T	G32337710A	BRCA2	NM_000059.4(BRCA2):c.3355_3359del:p.Glu1119fs	coding	Pathogenic
13	32337731	GA	G	A32337733T	BRCA2	NM_000059.4(BRCA2):c.3378del:p.Glu1126fs	coding	Pathogenic
13	32337739	TCA	T	C32337740G	BRCA2	NM_000059.4(BRCA2):c.3385_3386del:p.Gln1129fs	coding	Pathogenic
13	32337744	T	TG	T32337745G	BRCA2	NM_000059.4(BRCA2):c.3389_3390insG:p.Phe1130fs	coding	Pathogenic
13	32337750	AA	G	A32337750G	BRCA2	NM_000059.4(BRCA2):c.3395_3396delinsG:p.Lys1132fs	coding	Pathogenic
13	32337801	TG	T	G32337802A	BRCA2	NM_000059.4(BRCA2):c.3447del:p.Met1149fs	coding	Pathogenic
13	32337830	TG	T	G32337831C	BRCA2	NM_000059.4(BRCA2):c.3476del:p.Cys1159fs	coding	Pathogenic
13	32337850	TGTCA	T	G32337851T	BRCA2	NM_000059.4(BRCA2):c.3496_3499del:p.His1165_Val1166insTer	coding	Pathogenic
13	32337922	AC	A	C32337923G	BRCA2	NM_000059.4(BRCA2):c.3568del:p.Arg1190fs	coding	Pathogenic
13	32337938	CT	C	T32337939G	BRCA2	NM_000059.4(BRCA2):c.3584del:p.Leu1195fs	coding	Pathogenic
13	32337954	G	GT	A32337956T	BRCA2	NM_000059.4(BRCA2):c.3600dup:p.Asn1201Ter	coding	Pathogenic
13	32337954	GT	G	T32337955A	BRCA2	NM_000059.4(BRCA2):c.3600del:p.Asp1199_Cys1200insTer	coding	Pathogenic
13	32337975	AT	A	T32337978A	BRCA2	NM_000059.4(BRCA2):c.3623del:p.Tyr1207_Leu1208insTer	coding	Pathogenic
13	32337996	T	TA	G32337997A	BRCA2	NM_000059.4(BRCA2):c.3641_3642insA:p.Phe1216fs	coding	Pathogenic
13	32337996	T	TG	T32338001G	BRCA2	NM_000059.4(BRCA2):c.3645dup:p.Phe1216fs	coding	Pathogenic
13	32338000	GT	G	T32338003A	BRCA2	NM_000059.4(BRCA2):c.3648del:p.Phe1216fs	coding	Pathogenic
13	32338036	GA	G	A32338038T	BRCA2	NM_000059.4(BRCA2):c.3683del:p.Asn1228fs	coding	Pathogenic
13	32338058	CA	C	A32338063G	BRCA2	NM_000059.4(BRCA2):c.3708del:p.Ala1237fs	coding	Pathogenic
13	32338069	GAA	G	A32338071C	BRCA2	NM_000059.4(BRCA2):c.3716_3717del:p.Lys1239fs	coding	Pathogenic
13	32338107	CT	C	T32338109C	BRCA2	NM_000059.4(BRCA2):c.3754del:p.Ser1252fs	coding	Pathogenic
13	32338129	A	AAGTTTATC	T32338138A	BRCA2	NM_000059.4(BRCA2):c.3775_3782dup:p.Ser1262fs	coding	Pathogenic
13	32338156	TTC	T	C32338158G	BRCA2	NM_000059.4(BRCA2):c.3803_3804del:p.Ser1268fs	coding	Pathogenic
13	32338175	A	AAGAT	A32338183T	BRCA2	NM_000059.4(BRCA2):c.3824_3827dup:p.Glu1276fs	coding	Pathogenic
13	32338177	G	GA	T32338179A	BRCA2	NM_000059.4(BRCA2):c.3823dup:p.Ile1275fs	coding	Pathogenic
13	32338179	T	TAGAAAATCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A32338190G	BRCA2	NM_000059.4(BRCA2):c.3834_3835insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAATCAT:p.Asn1279fs	coding	Pathogenic
13	32338249	TG	T	G32338250A	BRCA2	NM_000059.4(BRCA2):c.3895del:p.Glu1299fs	coding	Pathogenic
13	32338292	TACAAG	T	C32338294G	BRCA2	NM_000059.4(BRCA2):c.3939_3943del:p.Tyr1313_Arg1315delinsTer	coding	Pathogenic
13	32338292	T	TA	C32338294A	BRCA2	NM_000059.4(BRCA2):c.3938dup:p.Tyr1313Ter	coding	Pathogenic
13	32338299	GAA	G	A32338301T	BRCA2	NM_000059.4(BRCA2):c.3946_3947del:p.Asn1316fs	coding	Pathogenic
13	32338321	CAA	C	A32338323T	BRCA2	NM_000059.4(BRCA2):c.3968_3969del:p.Lys1323fs	coding	Pathogenic
13	32338344	A	AT	C32338347T	BRCA2	NM_000059.4(BRCA2):c.3991dup:p.Ser1331fs	coding	Pathogenic
13	32338350	ATAACT	A	A32338353G	BRCA2	NM_000059.4(BRCA2):c.3998_4002del:p.Asn1333fs	coding	Pathogenic
13	32338376	TC	T	C32338377A	BRCA2	NM_000059.4(BRCA2):c.4022del:p.Asp1340_Ser1341insTer	coding	Pathogenic
13	32338380	GT	G	T32338381A	BRCA2	NM_000059.4(BRCA2):c.4026del:p.Ser1342fs	coding	Pathogenic
13	32338381	TA	T	A32338386T	BRCA2	NM_000059.4(BRCA2):c.4031del:p.Asn1344fs	coding	Pathogenic
13	32338388	GA	G	A32338389T	BRCA2	NM_000059.4(BRCA2):c.4034del:p.Asp1345fs	coding	Pathogenic
13	32338389	A	ATACT	G32338394T	BRCA2	NM_000059.4(BRCA2):c.4035_4038dup:p.Val1347fs	coding	Pathogenic
13	32338390	T	TA	C32338392A	BRCA2	NM_000059.4(BRCA2):c.4036dup:p.Thr1346fs	coding	Pathogenic
13	32338391	ACTGTTTG	A	C32338392T	BRCA2	NM_000059.4(BRCA2):c.4037_4043del:p.Thr1346fs	coding	Pathogenic
13	32338394	GT	G	T32338397G	BRCA2	NM_000059.4(BRCA2):c.4042del:p.Cys1348fs	coding	Pathogenic
13	32338432	TG	T	G32338433A	BRCA2	NM_000059.4(BRCA2):c.4078del:p.Asp1360fs	coding	Pathogenic
13	32338440	A	ACAACATATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATC	A32338454T	BRCA2	NM_000059.4(BRCA2):c.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT:p.Lys1367delinsPhePhePhePhePhePhePhePhePhePheGluThrGluSerArgSerValAlaGlnAlaGlyValLeuTrpArgAspLeuArgSerLeuGlnAlaProProSerGlyPheThrProPheSerCysLeuSerLeuProSerSerTrpAspTyrArgArgProProLeuArgProAlaAsnPheLeuTyrPheTer	coding	Pathogenic
13	32338457	T	GTC	T32338457G	BRCA2	NM_000059.4(BRCA2):c.4102delinsGTC:p.Leu1368fs	coding	Pathogenic
13	32338470	TTA	T	A32338472G	BRCA2	NM_000059.4(BRCA2):c.4117_4118del:p.Met1373fs	coding	Pathogenic
13	32338486	CA	C	A32338487C	BRCA2	NM_000059.4(BRCA2):c.4132del:p.Thr1378fs	coding	Pathogenic
13	32338538	G	GC	T32338540C	BRCA2	NM_000059.4(BRCA2):c.4184dup:p.Gln1396fs	coding	Pathogenic
13	32338539	CTCAAGAAGCATGTCATGGTAATACTTCAAATAAAGAA	C	T32338540C	BRCA2	NM_000059.4(BRCA2):c.4185_4221del:p.Gln1396fs	coding	Pathogenic
13	32338561	TACTTC	T	C32338563A	BRCA2	NM_000059.4(BRCA2):c.4208_4212del:p.Thr1403fs	coding	Pathogenic
13	32338576	A	AC	A32338578C	BRCA2	NM_000059.4(BRCA2):c.4222dup:p.Gln1408fs	coding	Pathogenic
13	32338577	CAGTT	C	G32338579A	BRCA2	NM_000059.4(BRCA2):c.4224_4227del:p.Thr1410fs	coding	Pathogenic
13	32338601	C	CA	T32338606A	BRCA2	NM_000059.4(BRCA2):c.4250dup:p.Asn1417fs	coding	Pathogenic
13	32338607	AT	A	T32338608A	BRCA2	NM_000059.4(BRCA2):c.4253del:p.Ile1418fs	coding	Pathogenic
13	32338608	TAA	T	A32338611G	BRCA2	NM_000059.4(BRCA2):c.4256_4257del:p.Lys1419fs	coding	Pathogenic
13	32338608	TA	T	A32338612G	BRCA2	NM_000059.4(BRCA2):c.4257del:p.Asp1420fs	coding	Pathogenic
13	32338615	T	AA	T32338615A	BRCA2	NM_000059.4(BRCA2):c.4260delinsAA:p.Asp1420fs	coding	Pathogenic
13	32338671	CCAAAGAGT	C	A32338674T	BRCA2	NM_000059.4(BRCA2):c.4319_4326del:p.Lys1440fs	coding	Pathogenic
13	32338684	TAATAA	T	A32338688T	BRCA2	NM_000059.4(BRCA2):c.4333_4337del:p.Lys1445fs	coding	Pathogenic/Likely_pathogenic
13	32338718	GA	G	A32338720G	BRCA2	NM_000059.4(BRCA2):c.4365del:p.Glu1456fs	coding	Pathogenic
13	32338726	GC	G	C32338727A	BRCA2	NM_000059.4(BRCA2):c.4372del:p.His1458fs	coding	Pathogenic
13	32338764	T	TAAGAAAGAACAAAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGCGGATCACAAGGTCAGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A32338782G	BRCA2	NM_000059.4(BRCA2):c.4426_4427insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGCGGATCACAAGGTCAGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGAACAAAATGG:p.Asp1476fs	coding	Pathogenic
13	32338766	AG	A	G32338767A	BRCA2	NM_000059.4(BRCA2):c.4412del:p.Arg1471fs	coding	Pathogenic
13	32338769	AAG	A	G32338771A	BRCA2	NM_000059.4(BRCA2):c.4416_4417del:p.Asn1473fs	coding	Pathogenic
13	32338814	A	AT	A32338815T	BRCA2	NM_000059.4(BRCA2):c.4459_4460insT:p.Lys1487fs	coding	Pathogenic
13	32338875	AG	A	G32338878A	BRCA2	NM_000059.4(BRCA2):c.4523del:p.Gly1508fs	coding	Pathogenic
13	32338878	GA	G	A32338879C	BRCA2	NM_000059.4(BRCA2):c.4524del:p.Gln1509fs	coding	Pathogenic
13	32338908	AACCT	A	C32338911T	BRCA2	NM_000059.4(BRCA2):c.4556_4559del:p.Pro1519fs	coding	Pathogenic
13	32338959	CA	C	A32338962G	BRCA2	NM_000059.4(BRCA2):c.4607del:p.Lys1536fs	coding	Pathogenic
13	32338986	ACCTTT	A	C32338987T	BRCA2	NM_000059.4(BRCA2):c.4632_4636del:p.Asn1544_Leu1545insTer	coding	Pathogenic/Likely_pathogenic
13	32339026	CA	C	A32339027G	BRCA2	NM_000059.4(BRCA2):c.4672del:p.Ser1558fs	coding	Pathogenic
13	32339068	GGCCT	G	C32339070T	BRCA2	NM_000059.4(BRCA2):c.4715_4718del:p.Ala1572fs	coding	Pathogenic
13	32339088	TAGCATGTGAG	T	G32339090C	BRCA2	NM_000059.4(BRCA2):c.4735_4744del:p.Ala1579fs	coding	Pathogenic
13	32339088	T	TAGCATGTG	A32339099C	BRCA2	NM_000059.4(BRCA2):c.4736_4743dup:p.Thr1582fs	coding	Pathogenic
13	32339143	TTC	T	T32339148A	BRCA2	NM_000059.4(BRCA2):c.4793_4794del:p.Leu1598fs	coding	Pathogenic
13	32339144	TC	T	C32339145T	BRCA2	NM_000059.4(BRCA2):c.4790del:p.Ser1597fs	coding	Pathogenic
13	32339147	CT	C	T32339148C	BRCA2	NM_000059.4(BRCA2):c.4793del:p.Leu1598fs	coding	Pathogenic
13	32339159	AAAAACCTT	A	A32339160G	BRCA2	NM_000059.4(BRCA2):c.4805_4812del:p.Lys1602fs	coding	Pathogenic
13	32339170	TTC	T	C32339172A	BRCA2	NM_000059.4(BRCA2):c.4817_4818del:p.Ser1606fs	coding	Pathogenic
13	32339198	CT	C	T32339199C	BRCA2	NM_000059.4(BRCA2):c.4844del:p.Leu1615fs	coding	Pathogenic
13	32339209	TA	T	A32339211T	BRCA2	NM_000059.4(BRCA2):c.4856del:p.Asn1619fs	coding	Pathogenic
13	32339226	CTG	C	T32339227A	BRCA2	NM_000059.4(BRCA2):c.4872_4873del:p.Glu1625fs	coding	Pathogenic
13	32339244	CAA	C	A32339248G	BRCA2	NM_000059.4(BRCA2):c.4893_4894del:p.Ser1632fs	coding	Pathogenic
13	32339264	GT	G	T32339266A	BRCA2	NM_000059.4(BRCA2):c.4911del:p.Val1639fs	coding	Pathogenic
13	32339291	GAAACAGC	G	C32339295A	BRCA2	NM_000059.4(BRCA2):c.4940_4946del:p.Thr1647fs	coding	Pathogenic
13	32339297	GC	G	C32339298A	BRCA2	NM_000059.4(BRCA2):c.4943del:p.Ala1648fs	coding	Pathogenic
13	32339298	CA	C	A32339303G	BRCA2	NM_000059.4(BRCA2):c.4948del:p.Ser1650fs	coding	Pathogenic
13	32339333	CCT	C	C32339334T	BRCA2	NM_000059.4(BRCA2):c.4979_4980del:p.Pro1660fs	coding	Pathogenic
13	32339361	T	TACGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTCCNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G32339363C	BRCA2	NM_000059.4(BRCA2):c.5007_5008insCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTCCNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:p.Ala1670delinsArgGlyGlyGlyArgLeuTer	coding	Pathogenic
13	32339395	TGTGA	T	G32339398C	BRCA2	NM_000059.4(BRCA2):c.5043_5046del:p.Ser1682fs	coding	Pathogenic
13	32339396	G	GT	G32339398T	BRCA2	NM_000059.4(BRCA2):c.5042dup:p.Ser1682fs	coding	Pathogenic
13	32339404	G	GT	A32339405T	BRCA2	NM_000059.4(BRCA2):c.5049_5050insT:p.Thr1684fs	coding	Pathogenic/Likely_pathogenic
13	32339408	T	TC	A32339410C	BRCA2	NM_000059.4(BRCA2):c.5054dup:p.Leu1686fs	coding	Pathogenic
13	32339414	CT	C	T32339416G	BRCA2	NM_000059.4(BRCA2):c.5061del:p.Glu1688fs	coding	Pathogenic
13	32339417	G	GA	G32339420A	BRCA2	NM_000059.4(BRCA2):c.5064dup:p.Ala1689fs	coding	Pathogenic
13	32339420	GC	G	C32339421A	BRCA2	NM_000059.4(BRCA2):c.5066del:p.Ala1689fs	coding	Pathogenic
13	32339441	G	GGAAT	A32339446G	BRCA2	NM_000059.4(BRCA2):c.5087_5090dup:p.Ile1697fs	coding	Pathogenic
13	32339444	A	AT	A32339446T	BRCA2	NM_000059.4(BRCA2):c.5090dup:p.Phe1698fs	coding	Pathogenic
13	32339504	GA	G	A32339508T	BRCA2	NM_000059.4(BRCA2):c.5153del:p.Asn1718fs	coding	Pathogenic
13	32339505	AAAATAATTCAAACAGTACTATAGCTGAAAATGACAAAAATCATCTCTCCGAAAAACAAGATACTTATTTAAGTAAC	TACTTAATACTTATTAAGTATTA	A32339505T	BRCA2	NM_000059.4(BRCA2):c.5150_5226delinsTACTTAATACTTATTAAGTATTA:p.Glu1717_Asn1742delinsValLeuAsnThrTyrTer	coding	Pathogenic
13	32339517	A	AC	A32339519C	BRCA2	NM_000059.4(BRCA2):c.5163dup:p.Ser1722fs	coding	Pathogenic
13	32339571	ATTT	A	T32339572A	BRCA2	NM_000059.4(BRCA2):c.5217_5219del:p.Tyr1739_Leu1740delinsTer	coding	Pathogenic
13	32339572	TT	C	T32339572C	BRCA2	NM_000059.4(BRCA2):c.5217_5218delinsC:p.Tyr1739_Leu1740insTer	coding	Pathogenic
13	32339576	AG	A	G32339577T	BRCA2	NM_000059.4(BRCA2):c.5222del:p.Ser1741fs	coding	Pathogenic
13	32339578	TA	T	A32339580C	BRCA2	NM_000059.4(BRCA2):c.5225del:p.Asn1742fs	coding	Pathogenic
13	32339596	CA	C	A32339597G	BRCA2	NM_000059.4(BRCA2):c.5242del:p.Ser1748fs	coding	Pathogenic
13	32339633	TC	T	C32339634A	BRCA2	NM_000059.4(BRCA2):c.5279del:p.Asp1759_Ser1760insTer	coding	Pathogenic
13	32339633	T	TC	A32339635C	BRCA2	NM_000059.4(BRCA2):c.5279dup:p.Gly1761fs	coding	Pathogenic
13	32339639	TATCTCTCAAAAAATA	T	T32339641A	BRCA2	NM_000059.4(BRCA2):c.5286_5300del:p.Tyr1762_Lys1767delinsTer	coding	Pathogenic
13	32339646	CA	C	A32339652T	BRCA2	NM_000059.4(BRCA2):c.5297del:p.Asn1766fs	coding	Pathogenic
13	32339659	TG	T	G32339660A	BRCA2	NM_000059.4(BRCA2):c.5305del:p.Asp1769fs	coding	Pathogenic
13	32339678	GTATTGAAGAA	G	A32339680G	BRCA2	NM_000059.4(BRCA2):c.5325_5334del:p.Asn1778fs	coding	Pathogenic
13	32339712	GT	G	T32339717C	BRCA2	NM_000059.4(BRCA2):c.5362del:p.Ser1788fs	coding	Pathogenic
13	32339728	AT	A	T32339729C	BRCA2	NM_000059.4(BRCA2):c.5374del:p.Ser1792fs	coding	Pathogenic
13	32339737	AAAAGATGC	A	G32339741T	BRCA2	NM_000059.4(BRCA2):c.5386_5393del:p.Asp1796fs	coding	Pathogenic
13	32339751	C	CTTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCTTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACGGTACTNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	A32339752T	BRCA2	NM_000059.4(BRCA2):c.5396_5397insTTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCTTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACGGTACTNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:p.Ala1799_Tyr1800insSerLeuSerLeuSerLeuSerLeuSerLeuSerLeuSerProArgSerProSerThrValSerLeuTer	coding	Pathogenic
13	32339754	A	AC	A32339758C	BRCA2	NM_000059.4(BRCA2):c.5402dup:p.Gln1802fs	coding	Pathogenic
13	32339763	CTGTA	C	T32339764A	BRCA2	NM_000059.4(BRCA2):c.5409_5412del:p.Val1804fs	coding	Pathogenic
13	32339791	AC	A	C32339792T	BRCA2	NM_000059.4(BRCA2):c.5437del:p.Leu1813_Val1814insTer	coding	Pathogenic
13	32339833	CA	C	A32339834T	BRCA2	NM_000059.4(BRCA2):c.5479del:p.Ile1827fs	coding	Pathogenic
13	32339854	TAG	T	A32339855T	BRCA2	NM_000059.4(BRCA2):c.5500_5501del:p.Asn1833_Ser1834insTer	coding	Pathogenic
13	32339877	C	CA	C32339879A	BRCA2	NM_000059.4(BRCA2):c.5523dup:p.Pro1842fs	coding	Pathogenic
13	32339911	T	TC	T32339912C	BRCA2	NM_000059.4(BRCA2):c.5556_5557insC:p.Cys1853fs	coding	Pathogenic
13	32339921	CA	TG	C32339921T	BRCA2	NM_000059.4(BRCA2):c.5566_5567inv:p.His1856Cys	coding	Pathogenic
13	32339947	C	CA	T32339949A	BRCA2	NM_000059.4(BRCA2):c.5593dup:p.Ile1865fs	coding	Pathogenic
13	32339973	TAATTAAGG	T	T32339976A	BRCA2	NM_000059.4(BRCA2):c.5621_5628del:p.Ile1874fs	coding	Pathogenic
13	32339975	A	AT	A32339978T	BRCA2	NM_000059.4(BRCA2):c.5622dup:p.Lys1875Ter	coding	Pathogenic
13	32340025	G	GGC	A32340028G	BRCA2	NM_000059.4(BRCA2):c.5671_5672dup:p.Gly1892fs	coding	Pathogenic
13	32340109	TA	T	A32340111G	BRCA2	NM_000059.4(BRCA2):c.5756del:p.Lys1919fs	coding	Pathogenic
13	32340144	T	TA	C32340146A	BRCA2	NM_000059.4(BRCA2):c.5790dup:p.Gln1931fs	coding	Pathogenic
13	32340149	CA	C	A32340150T	BRCA2	NM_000059.4(BRCA2):c.5795del:p.His1932fs	coding	Pathogenic
13	32340157	A	AT	A32340158T	BRCA2	NM_000059.4(BRCA2):c.5802_5803insT:p.Asn1935Ter	coding	Pathogenic
13	32340158	A	TT	A32340158T	BRCA2	NM_000059.4(BRCA2):c.5803delinsTT:p.Asn1935fs	coding	Pathogenic/Likely_pathogenic
13	32340167	GG	C	G32340167C	BRCA2	NM_000059.4(BRCA2):c.5812_5813delinsC:p.Gly1938fs	coding	Pathogenic
13	32340175	GAA	G	A32340177G	BRCA2	NM_000059.4(BRCA2):c.5822_5823del:p.Lys1941fs	coding	Pathogenic
13	32340184	TA	T	A32340188T	BRCA2	NM_000059.4(BRCA2):c.5833del:p.Ile1945fs	coding	Pathogenic
13	32340225	TA	T	A32340226T	BRCA2	NM_000059.4(BRCA2):c.5871del:p.Cys1958fs	coding	Pathogenic
13	32340235	TA	T	A32340236G	BRCA2	NM_000059.4(BRCA2):c.5881del:p.Ser1961fs	coding	Pathogenic
13	32340284	AT	A	T32340289A	BRCA2	NM_000059.4(BRCA2):c.5934del:p.Phe1978fs	coding	Pathogenic
13	32340317	G	GT	A32340319T	BRCA2	NM_000059.4(BRCA2):c.5963dup:p.Ser1989fs	coding	Pathogenic/Likely_pathogenic
13	32340333	T	TA	C32340335A	BRCA2	NM_000059.4(BRCA2):c.5979dup:p.Gln1994fs	coding	Pathogenic
13	32340339	AC	A	C32340340G	BRCA2	NM_000059.4(BRCA2):c.5985del:p.Asn1995fs	coding	Pathogenic
13	32340368	GA	G	A32340369T	BRCA2	NM_000059.4(BRCA2):c.6014del:p.Asp2005fs	coding	Pathogenic
13	32340440	GA	G	A32340444T	BRCA2	NM_000059.4(BRCA2):c.6089del:p.Asn2030fs	coding	Pathogenic
13	32340454	A	AT	C32340455T	BRCA2	NM_000059.4(BRCA2):c.6099_6100insT:p.Arg2034fs	coding	Pathogenic
13	32340471	T	TAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCTC	A32340650C	BRCA2	NM_000059.4(BRCA2):c.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT:p.Arg2099delinsGlnTyrProLysLysAlaPheHisIleMetTrpTer	coding	Pathogenic
13	32340475	A	AT	C32340477T	BRCA2	NM_000059.4(BRCA2):c.6121dup:p.Ser2041fs	coding	Pathogenic
13	32340487	C	CT	C32340492T	BRCA2	NM_000059.4(BRCA2):c.6136dup:p.Ser2046fs	coding	Pathogenic
13	32340536	G	GC	A32340538C	BRCA2	NM_000059.4(BRCA2):c.6182dup:p.Ser2062fs	coding	Pathogenic
13	32340566	AG	A	G32340567T	BRCA2	NM_000059.4(BRCA2):c.6212del:p.Ser2071fs	coding	Pathogenic
13	32340577	CAAAGT	C	A32340578T	BRCA2	NM_000059.4(BRCA2):c.6223_6227del:p.His2074_Lys2075insTer	coding	Pathogenic
13	32340578	AAAGTT	A	T32340582G	BRCA2	NM_000059.4(BRCA2):c.6227_6231del:p.Val2076fs	coding	Pathogenic
13	32340592	G	GT	A32340595T	BRCA2	NM_000059.4(BRCA2):c.6239dup:p.Leu2080fs	coding	Pathogenic
13	32340618	CTG	C	T32340619A	BRCA2	NM_000059.4(BRCA2):c.6264_6265del:p.Glu2089fs	coding	Pathogenic
13	32340621	AG	A	G32340622C	BRCA2	NM_000059.4(BRCA2):c.6267del:p.Glu2089fs	coding	Pathogenic
13	32340645	CG	C	G32340646T	BRCA2	NM_000059.4(BRCA2):c.6291del:p.Ser2098fs	coding	Pathogenic
13	32340669	T	TA	C32340671A	BRCA2	NM_000059.4(BRCA2):c.6315dup:p.Leu2106fs	coding	Pathogenic
13	32340671	CT	C	T32340673C	BRCA2	NM_000059.4(BRCA2):c.6318del:p.Pro2107fs	coding	Pathogenic
13	32340684	A	AT	A32340686T	BRCA2	NM_000059.4(BRCA2):c.6330dup:p.Lys2111Ter	coding	Pathogenic
13	32340708	TAA	T	A32340710C	BRCA2	NM_000059.4(BRCA2):c.6355_6356del:p.Asn2119fs	coding	Pathogenic
13	32340740	GAATTT	G	T32340743A	BRCA2	NM_000059.4(BRCA2):c.6388_6392del:p.Phe2130fs	coding	Pathogenic
13	32340740	GA	G	A32340742T	BRCA2	NM_000059.4(BRCA2):c.6387del:p.Glu2129fs	coding	Pathogenic
13	32340762	TAA	T	A32340764T	BRCA2	NM_000059.4(BRCA2):c.6409_6410del:p.Asn2137fs	coding	Pathogenic
13	32340798	C	CTA	T32340802A	BRCA2	NM_000059.4(BRCA2):c.6445_6446dup:p.Lys2150fs	coding	Pathogenic
13	32340802	T	TCAGA	A32340803C	BRCA2	NM_000059.4(BRCA2):c.6447_6448insCAGA:p.Lys2150fs	coding	Pathogenic
13	32340816	A	ATCTCTCTCAATTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCG	A32340831T	BRCA2	NM_000059.4(BRCA2):c.6475_6476insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCTCTCTCAATTTC:p.Gln2159delinsLeuPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer	coding	Pathogenic
13	32340822	C	CT	C32340824T	BRCA2	NM_000059.4(BRCA2):c.6468dup:p.Gln2157fs	coding	Pathogenic
13	32340841	A	AC	A32340843C	BRCA2	NM_000059.4(BRCA2):c.6487dup:p.Gln2163fs	coding	Pathogenic
13	32340862	CA	C	A32340865G	BRCA2	NM_000059.4(BRCA2):c.6510del:p.Val2171fs	coding	Pathogenic
13	32340870	CA	C	A32340871C	BRCA2	NM_000059.4(BRCA2):c.6516del:p.Val2174fs	coding	Pathogenic/Likely_pathogenic
13	32340935	AT	A	T32340937G	BRCA2	NM_000059.4(BRCA2):c.6582del:p.Ile2194fs	coding	Pathogenic
13	32340964	TC	T	C32340966T	BRCA2	NM_000059.4(BRCA2):c.6611del:p.Pro2204fs	coding	Pathogenic
13	32340988	T	TACTACTATATATACTACTTACTCCAAATATA	T32340989A	BRCA2	NM_000059.4(BRCA2):c.6633_6634insACTACTATATATACTACTTACTCCAAATATA:p.Cys2212fs	coding	Pathogenic
13	32341002	C	CCA	A32341005C	BRCA2	NM_000059.4(BRCA2):c.6648_6649dup:p.Lys2217fs	coding	Pathogenic
13	32341080	A	AT	C32341083T	BRCA2	NM_000059.4(BRCA2):c.6727dup:p.Ser2243fs	coding	Pathogenic
13	32341081	T	TTAG	C32341083A	BRCA2	NM_000059.4(BRCA2):c.6727_6728insAGT:p.Ser2243Ter	coding	Pathogenic
13	32341082	TCTA	T	C32341083A	BRCA2	NM_000059.4(BRCA2):c.6728_6730del:p.Ser2243_Lys2244delinsTer	coding	Pathogenic
13	32341092	C	CA	G32341095A	BRCA2	NM_000059.4(BRCA2):c.6739dup:p.Ser2247fs	coding	Pathogenic
13	32341101	CCA	C	C32341106T	BRCA2	NM_000059.4(BRCA2):c.6751_6752del:p.His2251fs	coding	Pathogenic
13	32341106	CA	C	A32341107T	BRCA2	NM_000059.4(BRCA2):c.6752del:p.His2251fs	coding	Pathogenic
13	32341142	G	GT	G32341147T	BRCA2	NM_000059.4(BRCA2):c.6791dup:p.Leu2264fs	coding	Pathogenic
13	32341142	GT	G	T32341146G	BRCA2	NM_000059.4(BRCA2):c.6791del:p.Leu2264fs	coding	Pathogenic
13	32341160	ATTGGAAAAAGAAGAGGAGAGCCCCTTATC	A	G32341163A	BRCA2	NM_000059.4(BRCA2):c.6808_6836del:p.Gly2270fs	coding	Pathogenic
13	32341176	G	GAGAGCCCT	C32341184T	BRCA2	NM_000059.4(BRCA2):c.6828_6829insTAGAGCCC:p.Leu2277Ter	coding	Pathogenic
13	32341182	C	CCCTT	A32341187C	BRCA2	NM_000059.4(BRCA2):c.6828_6831dup:p.Ile2278fs	coding	Pathogenic
13	32341186	T	TA	T32341188A	BRCA2	NM_000059.4(BRCA2):c.6832dup:p.Ile2278fs	coding	Pathogenic
13	32341193	G	GT	G32341195T	BRCA2	NM_000059.4(BRCA2):c.6839dup:p.Glu2282fs	coding	Pathogenic
13	32346875	CGA	C	G32346876T	BRCA2	NM_000059.4(BRCA2):c.6987_6988del:p.Ile2330fs	coding	Pathogenic
13	32354882	GA	G	A32354883T	BRCA2	NM_000059.4(BRCA2):c.7030del:p.Ile2344fs	coding	Pathogenic
13	32354888	GAATC	G	A32354889C	BRCA2	NM_000059.4(BRCA2):c.7036_7039del:p.Asn2346fs	coding	Pathogenic
13	32354906	AC	A	C32354908T	BRCA2	NM_000059.4(BRCA2):c.7055del:p.Pro2352fs	coding	Pathogenic
13	32354945	AC	A	C32354946A	BRCA2	NM_000059.4(BRCA2):c.7093del:p.His2365fs	coding	Pathogenic
13	32354949	CT	C	T32354950G	BRCA2	NM_000059.4(BRCA2):c.7097del:p.Leu2366fs	coding	Pathogenic
13	32354953	CT	C	T32354956G	BRCA2	NM_000059.4(BRCA2):c.7103del:p.Leu2368fs	coding	Pathogenic
13	32354968	CAAGCA	C	A32354970T	BRCA2	NM_000059.4(BRCA2):c.7117_7121del:p.Ser2373fs	coding	Pathogenic
13	32354978	AGC	A	G32354979A	BRCA2	NM_000059.4(BRCA2):c.7126_7127del:p.Ala2376fs	coding	Pathogenic
13	32354996	AT	A	T32355000A	BRCA2	NM_000059.4(BRCA2):c.7147del:p.Tyr2383fs	coding	Pathogenic/Likely_pathogenic
13	32355007	T	TTTCTGCTA	C32355016T	BRCA2	NM_000059.4(BRCA2):c.7155_7162dup:p.Thr2388fs	coding	Pathogenic
13	32355024	GA	G	A32355030T	BRCA2	NM_000059.4(BRCA2):c.7177del:p.Lys2392_Met2393insTer	coding	Pathogenic
13	32355070	TTG	T	G32355072T	BRCA2	NM_000059.4(BRCA2):c.7219_7220del:p.Val2407fs	coding	Pathogenic
13	32355141	G	GA	C32355146A	BRCA2	NM_000059.4(BRCA2):c.7292dup:p.Asn2431fs	coding	Pathogenic/Likely_pathogenic
13	32355209	TGAGATTCATCAGTTTAACA	AACAGTTTAAC	T32355209A	BRCA2	NM_000059.4(BRCA2):c.7356_7375delinsAACAGTTTAAC:p.Asn2452_Lys2459delinsLysThrValTer	coding	Pathogenic
13	32355265	C	CA	G32355269A	BRCA2	NM_000059.4(BRCA2):c.7415dup:p.Cys2473fs	coding	Pathogenic
13	32355270	T	TTC	G32355271T	BRCA2	NM_000059.4(BRCA2):c.7417_7418insTC:p.Cys2473fs	coding	Pathogenic
13	32356424	ATAGATTTAATTACAAGTCTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAACAAAGGCAACGCGTCTTTCCACAGCCAGGCAGTCTGTATCTTGCAAAAACATCCACTCTGCCTCGAATCTCTCTGAAAGCAGCAGTAGGAGGCCAAGTTCCCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCC	A	A32356426G	BRCA2	NM_000059.4(BRCA2):c.7436-2_7617+189del	noncoding	Pathogenic
13	32356479	AG	A	G32356480A	BRCA2	NM_000059.4(BRCA2):c.7488del:p.Lys2497fs	coding	Pathogenic
13	32356486	AC	A	C32356487A	BRCA2	NM_000059.4(BRCA2):c.7495del:p.Gln2499fs	coding	Pathogenic
13	32356517	A	AGTCT	A32356524C	BRCA2	NM_000059.4(BRCA2):c.7528_7531dup:p.Tyr2511fs	coding	Pathogenic
13	32356525	TC	T	C32356526T	BRCA2	NM_000059.4(BRCA2):c.7534del:p.Ala2513fs	coding	Pathogenic
13	32356532	A	AAAACATCC	C32356542A	BRCA2	NM_000059.4(BRCA2):c.7542_7549dup:p.Thr2517fs	coding	Pathogenic
13	32356554	TC	T	C32356555T	BRCA2	NM_000059.4(BRCA2):c.7563del:p.Ser2522fs	coding	Pathogenic
13	32356559	C	CT	G32356561T	BRCA2	NM_000059.4(BRCA2):c.7568dup:p.Lys2524fs	coding	Pathogenic/Likely_pathogenic
13	32357740	AGCTGTATACGTATGGCGTTTCTAAACA	GTGTTATTTTGTTTTATT	A32357740G	BRCA2	NM_000059.4(BRCA2):c.7618-2_7643delinsGTGTTATTTTGTTTTATT	noncoding	Pathogenic
13	32357754	GGC	G	C32357756T	BRCA2	NM_000059.4(BRCA2):c.7632_7633del:p.Val2545fs	coding	Pathogenic
13	32357762	TA	T	A32357765C	BRCA2	NM_000059.4(BRCA2):c.7641del:p.Lys2547fs	coding	Pathogenic
13	32357773	T	TAAAAATTAACAGCAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACGAGGTCACGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A32357790G	BRCA2	NM_000059.4(BRCA2):c.7665_7666insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACGAGGTCACGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGCAAA:p.Asn2556fs	coding	Pathogenic
13	32357824	A	AT	G32357829T	BRCA2	NM_000059.4(BRCA2):c.7704dup:p.Gly2569fs	coding	Pathogenic
13	32357839	GTT	G	T32357841A	BRCA2	NM_000059.4(BRCA2):c.7717_7718del:p.Leu2573fs	coding	Pathogenic/Likely_pathogenic
13	32357850	GGAAAA	G	A32357852G	BRCA2	NM_000059.4(BRCA2):c.7728_7732del:p.Lys2577fs	coding	Pathogenic
13	32357855	AGGAATACAGTT	A	A32357858C	BRCA2	NM_000059.4(BRCA2):c.7734_7744del:p.Gly2578_Ile2579insTer	coding	Pathogenic
13	32357886	ATA	CC	A32357886C	BRCA2	NM_000059.4(BRCA2):c.7762_7764delinsCC:p.Ile2588fs	coding	Pathogenic
13	32357888	AC	A	C32357891T	BRCA2	NM_000059.4(BRCA2):c.7767del:p.Ser2590fs	coding	Pathogenic
13	32357890	C	CCT	C32357894T	BRCA2	NM_000059.4(BRCA2):c.7768_7769dup:p.Asn2591fs	coding	Pathogenic
13	32357902	GA	G	A32357905G	BRCA2	NM_000059.4(BRCA2):c.7781del:p.Lys2594fs	coding	Pathogenic
13	32362508	CT	C	T32362512A	BRCA2	NM_000059.4(BRCA2):c.7806-11del	noncoding	Benign/Likely_benign
13	32362516	TG	T	G32362517T	BRCA2	NM_000059.4(BRCA2):c.7806-6del	noncoding	Benign/Likely_benign
13	32362521	AG	A	G32362524C	BRCA2	NC_000013.10:g.32936659del	noncoding	Pathogenic
13	32362533	GAC	G	A32362536T	BRCA2	NM_000059.4(BRCA2):c.7819_7820del:p.Thr2607fs	coding	Pathogenic
13	32362551	C	CCAAA	G32362556C	BRCA2	NM_000059.4(BRCA2):c.7835_7838dup:p.Lys2613fs	coding	Pathogenic
13	32362611	G	GC	A32362613C	BRCA2	NM_000059.4(BRCA2):c.7895dup:p.Ala2633fs	coding	Pathogenic
13	32362623	TG	T	G32362624T	BRCA2	NM_000059.4(BRCA2):c.7907del:p.Cys2636fs	coding	Pathogenic
13	32362652	ATGCCTAAGCCCAGAAAGGG	A	C32362656T	BRCA2	NM_000059.4(BRCA2):c.7939_7957del:p.Leu2647fs	coding	Pathogenic
13	32362671	G	GTGCT	C32362677G	BRCA2	NM_000059.4(BRCA2):c.7956_7959dup:p.Leu2654fs	coding	Pathogenic
13	32363216	AT	A	T32363217A	BRCA2	NM_000059.4(BRCA2):c.8015del:p.Ile2672fs	coding	Pathogenic
13	32363244	CA	C	A32363245G	BRCA2	NM_000059.4(BRCA2):c.8043del:p.Ala2682fs	coding	Pathogenic
13	32363300	AT	A	T32363301A	BRCA2	NM_000059.4(BRCA2):c.8099del:p.Ile2700fs	coding	Pathogenic/Likely_pathogenic
13	32363312	T	TAGCAATAAAACTAGTAGTGCAGCTGAAAC	C32363313A	BRCA2	NM_000059.4(BRCA2):c.8110_8111insAGCAATAAAACTAGTAGTGCAGCTGAAAC:p.Ser2704Ter	coding	Pathogenic
13	32363324	A	ATACTT	C32363325T	BRCA2	NM_000059.4(BRCA2):c.8122_8123insTACTT:p.Thr2708fs	coding	Pathogenic
13	32363331	G	GT	G32363333T	BRCA2	NM_000059.4(BRCA2):c.8130dup:p.Ala2711fs	coding	Pathogenic
13	32363357	AT	A	T32363359G	BRCA2	NM_000059.4(BRCA2):c.8157del:p.Ile2719fs	coding	Pathogenic
13	32363365	T	TA	C32363367A	BRCA2	NM_000059.4(BRCA2):c.8164dup:p.Thr2722fs	coding	Pathogenic
13	32363410	C	CTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGGT	G32363481T	BRCA2	NM_000059.4(BRCA2):c.8278_8279insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG:p.Gly2760delinsValTer	coding	Pathogenic
13	32363426	AAT	A	A32363427G	BRCA2	NM_000059.4(BRCA2):c.8225_8226del:p.Asn2742fs	coding	Pathogenic
13	32363467	A	AGC	A32363470G	BRCA2	NM_000059.4(BRCA2):c.8266_8267dup:p.Glu2757fs	coding	Pathogenic
13	32370406	CT	C	T32370407G	BRCA2	NM_000059.4(BRCA2):c.8337del:p.Ala2780fs	coding	Pathogenic
13	32370410	TA	T	A32370412C	BRCA2	NM_000059.4(BRCA2):c.8342del:p.Asn2781fs	coding	Pathogenic
13	32370435	T	TA	T32370437A	BRCA2	NM_000059.4(BRCA2):c.8366dup:p.Tyr2789Ter	coding	Pathogenic
13	32370441	A	AGCTGGTATACATATACAAATACCAAGTTTGGT	A32370442G	BRCA2	NM_000059.4(BRCA2):c.8371_8372insGCTGGTATACATATACAAATACCAAGTTTGGT:p.Lys2791fs	coding	Pathogenic
13	32370473	TC	T	C32370475T	BRCA2	NM_000059.4(BRCA2):c.8405del:p.Pro2802fs	coding	Pathogenic
13	32370493	TTTTC	A	T32370493A	BRCA2	NM_000059.4(BRCA2):c.8423_8427delinsA:p.Leu2808fs	coding	Pathogenic
13	32370501	G	GATGGAGGAAATGTTGGTTGTGTTGATGTAATTATTCAAAGAGCATACCCTATACAGGTATGATGTATTCTTGAAACTTACCATATATTTCTTTCTTTTGATACAATTAATTTGTTTGTTTGTTTGAGATGGAGTTTCGGTCTCTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGTTCACTGCAGCCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGAGCCACCACACCTGGCTAATTTTGTATTTTTGGTAGAGAAGGGGTTTCATCATGTTGGTCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCACTAATCTCAGCCTCCCAAAGTTCTGGGATTACAGATGTGAGCCACTGTGCCTGGCCTGATACAATTAACTTGAATGTTATATATGTGACTTTTTTGGTGTGTGTAACACATTATTACAGTGGATGGAGAAGACATCATCTGGATTATACATATTTCGCAATGAAAGAGAGGAAGAAAAGGAAGCAGCAAAATATGTGGAGGCCCAACAAAAGAGACTAGAAGCCTTATTCACTAAAATTCAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTATATGGTACACATTGTTATTTCTAATATGAGAACAAAGTCTTAGAGACTTTGAATTTAACATTTTTAATGAGTAAATTGTTTTTATTTTGAGTAGTAAATTGACTTTATTTTTTAGTATCTAGGGTATTCTTTTTTGGTGTTAGACAAAGAATAGCAACAAGGGACAGAAATATCAGGTCTAAGCCATTTGTAATATTTTTCCTGAATTCTTACCTATATGATGTGGCTTTTGCATTTTTGTCATGGTAGTTATTAGCTTTCATGTGTTATTATGCCTGGAACTAGGACCTATTGTGGTGTCAATTTTAATATTAAAAATCATGGTGTTTTGATGTTTATATGACATAAATTTTATTTTTTCGTATCTCCCTTTTGTTGTTGCTGAAGATTTTATGTTTTTCTGCATTTCCTCATGATTTATATAGATGTAACATGTTCTATAGGACATGTAATTTACATGTCCTATAGAACTATAAGTTACATGTCCTATAGAACTTACAGTTCTATAGTTATCTGC	G32371632T	BRCA2	NM_000059.4(BRCA2):c.8433_8632+531dup	coding	Pathogenic
13	32370536	TCAAAGAG	T	A32370539T	BRCA2	NM_000059.4(BRCA2):c.8469_8475del:p.Gln2823fs	coding	Pathogenic
13	32370553	T	TA	C32370555A	BRCA2	NM_000059.4(BRCA2):c.8484dup:p.Gln2829fs	coding	Pathogenic
13	32370973	A	ATC	G32370977C	BRCA2	NM_000059.4(BRCA2):c.8507_8508dup:p.Gly2837fs	coding	Pathogenic
13	32370988	AT	A	T32370991C	BRCA2	NM_000059.4(BRCA2):c.8523del:p.Arg2842fs	coding	Pathogenic
13	32371016	GA	G	A32371018G	BRCA2	NM_000059.4(BRCA2):c.8550del:p.Ala2851fs	coding	Pathogenic
13	32371035	AG	A	G32371037C	BRCA2	NM_000059.4(BRCA2):c.8569del:p.Ala2857fs	coding	Pathogenic
13	32371054	A	AG	A32371056G	BRCA2	NM_000059.4(BRCA2):c.8587dup:p.Glu2863fs	coding	Pathogenic
13	32371088	G	GA	G32371091A	BRCA2	NM_000059.4(BRCA2):c.8622dup:p.Glu2875fs	coding	Pathogenic
13	32371090	AG	A	G32371091A	BRCA2	NM_000059.4(BRCA2):c.8623del:p.Glu2875fs	coding	Pathogenic
13	32376521	C	CA	G32376536A	BRCA2	NM_000059.4(BRCA2):c.8633-135dup	noncoding	Benign
13	32376671	AAACAC	A	C32376676A	BRCA2	NM_000059.4(BRCA2):c.8639_8643del:p.Thr2880fs	coding	Pathogenic
13	32376730	TGCAAGATGGTGCAGAGCTTTATGAA	T	A32376734G	BRCA2	NM_000059.4(BRCA2):c.8697_8721del:p.Gln2899_Asp2900insTer	coding	Pathogenic
13	32376732	CAAGATGGTGCAGAGCTT	C	A32376733T	BRCA2	NM_000059.4(BRCA2):c.8696_8712del:p.Gln2899fs	coding	Pathogenic
13	32376742	CA	C	A32376743G	BRCA2	NM_000059.4(BRCA2):c.8706del:p.Glu2903fs	coding	Pathogenic
13	32376745	A	ATGGT	G32376746T	BRCA2	NM_000059.4(BRCA2):c.8708_8709insTGGT:p.Glu2903fs	coding	Pathogenic
13	32376759	GTGAAGAA	G	A32376762C	BRCA2	NM_000059.4(BRCA2):c.8725_8731del:p.Lys2909fs	coding	Pathogenic
13	32376768	GC	G	C32376769A	BRCA2	NM_000059.4(BRCA2):c.8732del:p.Ala2911fs	coding	Pathogenic
13	32379314	CAGGGTTATTTCAGTGAAGAGCAGTTAAGAGCCTTGAATAATCACAGGCAAATGTTGAATGATAAGAAACAAGCTCAGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGATTCAGGTAAGTATGTAAATGCTTTGTTTTTATCAGTTTTATTAACTTAAAAAATGACCTTACTAACAAAATGATTATAAATCCAGATAAAGTATAAAGTTAGTTTATATCAGAGAAGCAAAATCCACTACTAATGCCCACAAAGAGATAATATAAAAGAGGATCTGTATTTATTTTGAAACAAACATTTAAATGATAATCACTTCTTCCATTGCATCTTTCTCATCTTTCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAAT	C	A32379315T	BRCA2	NM_000059.4(BRCA2):c.8755-2_9023del	noncoding	Pathogenic
13	32379316	G	GTGAA	G32379317T	BRCA2	NM_000059.4(BRCA2):c.8754_8755insTGAA:p.Gly2919Ter	noncoding	Pathogenic
13	32379331	A	AG	A32379333G	BRCA2	NM_000059.4(BRCA2):c.8770dup:p.Glu2924fs	coding	Pathogenic
13	32379337	G	GT	A32379340T	BRCA2	NM_000059.4(BRCA2):c.8777dup:p.Leu2926fs	coding	Pathogenic
13	32379337	G	GTTAAGAGCCTTGAATAATCACAGGCA	A32379364T	BRCA2	NM_000059.4(BRCA2):c.8776_8801dup:p.Gln2934delinsHisTer	coding	Pathogenic
13	32379352	TA	T	A32379354T	BRCA2	NM_000059.4(BRCA2):c.8792del:p.Asn2931fs	coding	Pathogenic/Likely_pathogenic
13	32379357	AC	A	C32379358A	BRCA2	NM_000059.4(BRCA2):c.8796del:p.His2932fs	coding	Pathogenic
13	32379376	T	TAAGAAACAAGCTCAGGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A32379392G	BRCA2	NM_000059.4(BRCA2):c.8829_8830insGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAAGCTCAG:p.Ile2944delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
13	32379388	TC	T	C32379389A	BRCA2	NM_000059.4(BRCA2):c.8827del:p.Gln2943fs	coding	Pathogenic
13	32379389	CAG	C	G32379391T	BRCA2	NM_000059.4(BRCA2):c.8829_8830del:p.Gln2943fs	coding	Pathogenic
13	32379391	G	GGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTAAGAAACAAGCTCAGNNNNNNNNNNNNNNAAAAAAAAAAAAA	A32379392G	BRCA2	NM_000059.4(BRCA2):c.8829_8830insGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTAAGAAACAAGCTCAGNNNNNNNNNNNNNNAAAAAAAAAAAAA:p.Ile2944delinsAspProValGlyAsnTer	coding	Pathogenic
13	32379409	G	GC	A32379410C	BRCA2	NM_000059.4(BRCA2):c.8847_8848insC:p.Lys2950fs	coding	Pathogenic
13	32379428	G	GA	C32379431A	BRCA2	NM_000059.4(BRCA2):c.8868dup:p.Gln2957fs	coding	Pathogenic/Likely_pathogenic
13	32379435	A	AG	A32379438G	BRCA2	NM_000059.4(BRCA2):c.8875dup:p.Glu2959fs	coding	Pathogenic
13	32379751	T	TAA	T32379753A	BRCA2	NM_000059.4(BRCA2):c.8956_8957insAA:p.Ile2986fs	coding	Pathogenic
13	32379755	CT	C	T32379756G	BRCA2	NM_000059.4(BRCA2):c.8960del:p.Leu2987fs	coding	Pathogenic
13	32379764	TG	T	G32379766C	BRCA2	NM_000059.4(BRCA2):c.8970del:p.Trp2990fs	coding	Pathogenic
13	32379769	TCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA	T	C32379771T	BRCA2	NM_000059.4(BRCA2):c.8975_9098del:p.Pro2992fs	coding	Pathogenic
13	32379783	TA	T	A32379784T	BRCA2	NM_000059.4(BRCA2):c.8988del:p.Leu2996fs	coding	Pathogenic
13	32379802	AG	A	G32379804A	BRCA2	NM_000059.4(BRCA2):c.9008del:p.Gly3003fs	coding	Pathogenic
13	32379807	AG	A	G32379808A	BRCA2	NM_000059.4(BRCA2):c.9012del:p.Arg3005fs	coding	Pathogenic
13	32379809	A	AGATACAGAATTTATCATCTTGCAT	A32379833T	BRCA2	NM_000059.4(BRCA2):c.9036_9037insTGATACAGAATTTATCATCTTGCA:p.Thr3013Ter	coding	Pathogenic
13	32379831	CA	C	A32379833C	BRCA2	NM_000059.4(BRCA2):c.9037del:p.Thr3013fs	coding	Pathogenic
13	32379837	CA	C	A32379841T	BRCA2	NM_000059.4(BRCA2):c.9045del:p.Lys3015fs	coding	Pathogenic/Likely_pathogenic
13	32379848	AG	A	G32379849T	BRCA2	NM_000059.4(BRCA2):c.9053del:p.Ser3018fs	coding	Pathogenic
13	32379866	AACAT	A	T32379870G	BRCA2	NM_000059.4(BRCA2):c.9074_9077del:p.Ile3025fs	coding	Pathogenic
13	32379868	CATACAG	C	A32379869T	BRCA2	NM_000059.4(BRCA2):c.9073_9078del:p.Ile3025_Gln3026del	coding	Pathogenic
13	32379870	TAC	T	C32379872G	BRCA2	NM_000059.4(BRCA2):c.9076_9077del:p.Gln3026fs	coding	Pathogenic
13	32379872	C	CAGTTAGCAGCGACAAAAAA	A32379893G	BRCA2	NM_000059.4(BRCA2):c.9078_9096dup:p.Thr3033fs	coding	Pathogenic
13	32379883	GACAAAAAAAACTCAGTATCA	G	A32379888C	BRCA2	NM_000059.4(BRCA2):c.9092_9111del:p.Lys3031fs	coding	Pathogenic
13	32379901	TC	CAAAAAA	T32379901C	BRCA2	NM_000059.4(BRCA2):c.9105_9106delinsCAAAAAA:p.Gln3036fs	coding	Pathogenic
13	32379912	CG	C	G32379914T	BRCA2	NM_000059.4(BRCA2):c.9117+1del	coding	Pathogenic/Likely_pathogenic
13	32380031	A	AT	A32380035T	BRCA2	NM_000059.4(BRCA2):c.9145dup:p.Tyr3049fs	coding	Pathogenic
13	32380048	GC	G	C32380052T	BRCA2	NM_000059.4(BRCA2):c.9163del:p.Leu3055fs	coding	Pathogenic
13	32380089	C	CCT	A32380090C	BRCA2	NM_000059.4(BRCA2):c.9200_9201insCT:p.Ser3068fs	coding	Pathogenic
13	32380133	GTGAAAAA	G	T32380134A	BRCA2	NM_000059.4(BRCA2):c.9245_9251del:p.Val3082fs	coding	Pathogenic
13	32380139	AAAAC	A	A32380141G	BRCA2	NM_000059.4(BRCA2):c.9252_9255del:p.Thr3085fs	coding	Pathogenic
13	32380141	AA	G	A32380141G	BRCA2	NM_000059.4(BRCA2):c.9252_9253delinsG:p.Thr3085fs	coding	Pathogenic
13	32380143	CA	TT	C32380143T	BRCA2	NM_000059.4(BRCA2):c.9254_9255delinsTT:p.Thr3085Ile	coding	Pathogenic
13	32394671	CTT	C	T32394678C	BRCA2	NM_000059.4(BRCA2):c.9257-11_9257-10del	noncoding	Benign
13	32394720	AT	A	T32394721G	BRCA2	NM_000059.4(BRCA2):c.9289del:p.Cys3097fs	coding	Pathogenic
13	32394733	CT	C	T32394734G	BRCA2	NM_000059.4(BRCA2):c.9302del:p.Leu3101fs	coding	Pathogenic
13	32394759	T	TAATGAGGACATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A32394775T	BRCA2	NM_000059.4(BRCA2):c.9342_9343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT:p.Lys3115delinsPhePhePhePhePhePhePhePhePhePhePhePhePheGluThrGluSerArgSerValAlaGlnAlaGlyLeuTrpThrAlaValAlaGlnSerArgLeuThrAlaSerSerAlaSerArgValHisAlaIleLeuLeuProGlnProProGluTer	coding	Pathogenic
13	32394762	TGAGGA	T	G32394763C	BRCA2	NM_000059.4(BRCA2):c.9331_9335del:p.Glu3111fs	coding	Pathogenic
13	32394766	G	GA	C32394768A	BRCA2	NM_000059.4(BRCA2):c.9335dup:p.Asp3112fs	coding	Pathogenic
13	32394803	ACCTC	A	C32394805A	BRCA2	NM_000059.4(BRCA2):c.9373_9376del:p.Leu3125fs	coding	Pathogenic
13	32394827	AATCAGGCCTT	CTTTATTTG	A32394827C	BRCA2	NM_000059.4(BRCA2):c.9395_9405delinsCTTTATTTG:p.Lys3132fs	coding	Pathogenic
13	32394872	C	CT	G32394874T	BRCA2	NM_000059.4(BRCA2):c.9441dup:p.Ala3148fs	coding	Pathogenic
13	32394883	A	AAAGAGGGCCACTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A32394899T	BRCA2	NM_000059.4(BRCA2):c.9466_9467insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAGGGCCACTTTC:p.Gln3156delinsLeuPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer	coding	Pathogenic
13	32394886	GA	G	A32394887G	BRCA2	NM_000059.4(BRCA2):c.9455del:p.Glu3152fs	coding	Pathogenic
13	32394894	C	CTGA	T32394896G	BRCA2	NM_000059.4(BRCA2):c.9463_9464insGAT:p.Phe3155Ter	coding	Pathogenic
13	32394894	CT	C	T32394897C	BRCA2	NM_000059.4(BRCA2):c.9465del:p.Gln3156fs	coding	Pathogenic
13	32394903	G	GAC	T32394907C	BRCA2	NM_000059.4(BRCA2):c.9473_9474dup:p.Phe3159fs	coding	Pathogenic
13	32394918	GA	G	A32394923T	BRCA2	NM_000059.4(BRCA2):c.9491del:p.Asn3164fs	coding	Pathogenic
13	32394924	T	TA	C32394926A	BRCA2	NM_000059.4(BRCA2):c.9493dup:p.Thr3165fs	coding	Pathogenic
13	32394927	TG	T	G32394928T	BRCA2	NM_000059.4(BRCA2):c.9496del:p.Val3166fs	coding	Pathogenic
13	32396937	A	AT	G32396939T	BRCA2	NM_000059.4(BRCA2):c.9542dup:p.Met3181fs	coding	Pathogenic
13	32396996	AG	A	G32396999C	BRCA2	NM_000059.4(BRCA2):c.9603del:p.Pro3202fs	coding	Pathogenic
13	32398200	TTTATCAC	T	A32398203T	BRCA2	NM_000059.4(BRCA2):c.9690_9696del:p.Leu3230fs	coding	Pathogenic
13	32398261	T	TC	A32398263C	BRCA2	NM_000059.4(BRCA2):c.9749dup:p.Ser3252fs	coding	Pathogenic
13	32398308	CA	C	A32398313G	BRCA2	NM_000059.4(BRCA2):c.9800del:p.Lys3267fs	coding	Pathogenic
13	32398308	C	CA	G32398314A	BRCA2	NM_000059.4(BRCA2):c.9800dup:p.Arg3268fs	coding	Pathogenic
13	32398346	C	CT	A32398350T	BRCA2	NM_000059.4(BRCA2):c.9836dup:p.Leu3279fs	coding	Pathogenic
13	32398606	G	GTGAATTATA	C32398608G	BRCA2	NM_000059.4(BRCA2):c.10094_10095insGAATTATAT:p.Val3365_Ser3366insAsnTyrIle	coding	Benign/Likely_benign
13	32398608	C	CAATTATATCT	G32398610A	BRCA2	NM_000059.4(BRCA2):c.10096_10097insATTATATCTA:p.Ser3366delinsAsnTyrIleTer	coding	Benign/Likely_benign
13	32398728	GA	G	A32398733T	BRCA2	NM_000059.4(BRCA2):c.10220del:p.Asn3407fs	coding	Pathogenic
13	32398755	TA	T	A32398761T	BRCA2	NM_000059.4(BRCA2):c.10248del:p.Lys3416fs	coding	Pathogenic
13	36314232	AACTG	A	G36314240T	SPART	NM_015087.5(SPART):c.1474_1477del:p.Gln492fs	coding	Pathogenic
13	36314415	GA	G	A36314417G	SPART	NM_015087.5(SPART):c.1294del:p.Ser432fs	coding	Pathogenic
13	36331508	AGCATT	A	C36331510T	SPART	NM_015087.5(SPART):c.894_898del:p.Met299fs	coding	Pathogenic
13	36819540	CG	C	G36819545C	RFXAP	NM_000538.4(RFXAP):c.188del:p.Gly63fs	coding	Pathogenic
13	36819557	C	CG	C36819561G	RFXAP	NM_000538.4(RFXAP):c.203dup:p.Lys69fs	coding	Pathogenic
13	36819653	C	CG	A36819660G	RFXAP	NM_000538.4(RFXAP):c.302dup:p.Gly102fs	coding	Pathogenic
13	36819710	CG	C	G36819716C	RFXAP	NM_000538.4(RFXAP):c.359del:p.Gly120fs	coding	Pathogenic
13	36819724	AG	A	G36819725C	RFXAP	NM_000538.4(RFXAP):c.368del:p.Ser123fs	coding	Pathogenic
13	36819745	C	CG	C36819750G	RFXAP	NM_000538.4(RFXAP):c.392dup:p.Ser132fs	coding	Pathogenic
13	36819879	TAAAA	T	A36819881G	RFXAP	NM_000538.4(RFXAP):c.524_527del:p.Lys175fs	coding	Pathogenic
13	36872372	T	TA	T36872384A	SMAD9	NM_001127217.3(SMAD9):c.670+275dup	noncoding	Benign
13	36879079	A	ACTTT	G36879088C	SMAD9	NM_001127217.3(SMAD9):c.412+191AAAG[3]	noncoding	Benign
13	36879156	C	CCTCT	T36879163C	SMAD9	NM_001127217.3(SMAD9):c.412+116AG[5]	noncoding	Benign
13	36879303	G	GT	A36879305T	SMAD9	NM_001127217.3(SMAD9):c.386dup:p.Tyr129Ter	coding	Pathogenic
13	36965643	CTG	C	G36965649C	ALG5	NM_013338.5(ALG5):c.703_704del:p.Gln235fs	coding	Pathogenic
13	37000344	CAA	C	A37000362G	EXOSC8	Single_allele	noncoding	Benign
13	37000344	CA	C	A37000363G	EXOSC8	Single_allele	noncoding	Benign
13	37005862	C	CA	G37005886A	EXOSC8	NM_181503.3(EXOSC8):c.239-35dup	noncoding	Benign
13	37008269	GACC	G	A37008270C	EXOSC8	NM_181503.3(EXOSC8):c.608+93_608+95del	noncoding	Benign
13	38358146	AT	A	T38358147A	UFM1	NM_016617.4(UFM1):c.157+15del	noncoding	Benign
13	38690124	TCA	T	A38690126T	FREM2	NM_207361.6(FREM2):c.2782_2783del:p.Thr928fs	coding	Pathogenic
13	38690175	GC	G	C38690177A	FREM2	NM_207361.6(FREM2):c.2833del:p.His945fs	coding	Pathogenic
13	38691298	T	TA	C38691300A	FREM2	NM_207361.6(FREM2):c.3955dup:p.Thr1319fs	coding	Pathogenic
13	38769555	AATG	A	G38769558A	FREM2	NM_207361.6(FREM2):c.5411-20_5411-18del	noncoding	Benign
13	38783473	TAAAAA	T	A38783490G	FREM2	NM_207361.6(FREM2):c.5767+295_5767+299del	noncoding	Benign
13	38850042	T	TA	G38850045A	FREM2	NM_207361.6(FREM2):c.6386dup:p.Met2130fs	coding	Pathogenic
13	38850116	CT	GC	C38850116G	FREM2	NM_207361.6(FREM2):c.6458_6459delinsGC:p.Thr2153Ser	coding	Benign
13	38850253	AT	A	T38850259C	FREM2	NM_207361.6(FREM2):c.6577+24del	noncoding	Benign
13	38851118	CT	C	T38851125G	FREM2	NM_207361.6(FREM2):c.6742+17del	noncoding	Benign
13	38856045	TAA	T	A38856066T	FREM2	NM_207361.6(FREM2):c.6926-60_6926-59del	noncoding	Benign
13	38861415	C	CG	T38861416G	FREM2	NM_207361.6(FREM2):c.7520-16_7520-15insG	noncoding	Benign
13	38861415	C	CGT	T38861416G	FREM2	NM_207361.6(FREM2):c.7520-16_7520-15insGT	noncoding	Benign
13	38861415	CT	C	T38861426C	FREM2	NM_207361.6(FREM2):c.7520-5del	noncoding	Benign/Likely_benign
13	38864827	CATT	C	T38864830A	FREM2	NM_207361.6(FREM2):c.7983+224_7983+226del	noncoding	Benign
13	38872463	C	CTAAAG	A38872469T	FREM2	NM_207361.6(FREM2):c.7984-278_7984-274dup	noncoding	Benign
13	39659044	AT	A	T39659054G	COG6	NM_020751.3(COG6):c.154-310del	noncoding	Benign
13	39659461	TA	T	A39659462G	COG6	NM_020751.3(COG6):c.252del:p.Ala85fs	coding	Pathogenic
13	39679539	A	AT	C39679546T	COG6	NM_020751.3(COG6):c.548dup:p.Lys184fs	coding	Pathogenic
13	39680144	TCAAA	T	A39680147T	COG6	NM_020751.3(COG6):c.694+102_694+105del	noncoding	Benign
13	39690099	AT	A	T39690100C	COG6	NM_020751.3(COG6):c.1074+276del	noncoding	Benign
13	39694955	GCACA	G	A39694987C	COG6	NM_020751.3(COG6):c.1166+231CA[15]	noncoding	Benign
13	39694955	GCA	G	A39694989C	COG6	NM_020751.3(COG6):c.1166+231CA[16]	noncoding	Benign
13	39694955	G	GCA	C39694991A	COG6	NM_020751.3(COG6):c.1166+231CA[18]	noncoding	Benign
13	39699213	TA	T	A39699214G	COG6	NM_020751.3(COG6):c.1167-287del	noncoding	Benign
13	39719151	AT	A	T39719160A	COG6	NM_020751.3(COG6):c.1285-76del	noncoding	Benign
13	39719994	A	AAC	A39720028C	COG6	NM_020751.3(COG6):c.1584+168AC[17]	noncoding	Benign
13	39719994	A	AACAC	A39720028C	COG6	NM_020751.3(COG6):c.1584+168AC[18]	noncoding	Benign
13	39719994	A	AACACAC	A39720028C	COG6	NM_020751.3(COG6):c.1584+168AC[19]	noncoding	Benign
13	39719994	AAC	A	C39720026A	COG6	NM_020751.3(COG6):c.1584+168AC[15]	noncoding	Benign
13	39719994	AACACAC	A	C39720022A	COG6	NM_020751.3(COG6):c.1584+168AC[13]	noncoding	Benign
13	39724483	CT	C	T39724501A	COG6	NM_020751.3(COG6):c.1693-7del	noncoding	Benign
13	39751227	AT	A	T39751240G	COG6	NM_020751.3(COG6):c.*147del	coding	Benign
13	40798821	CAT	C	A40798822G	SLC25A15	NM_014252.4(SLC25A15):c.56-235_56-234del	coding	Benign
13	40799076	GA	G	A40799077C	SLC25A15	NM_014252.4(SLC25A15):c.76del:p.Thr26fs	coding	Pathogenic
13	40807335	GC	G	C40807339T	SLC25A15	NM_014252.4(SLC25A15):c.498del:p.Leu167fs	coding	Pathogenic
13	40807335	G	GGGTTCTA	C40807336G	SLC25A15	NM_014252.4(SLC25A15):c.494_495insGGTTCTA:p.Pro166fs	coding	Pathogenic
13	40807410	GC	G	C40807411T	SLC25A15	NM_014252.4(SLC25A15):c.570del:p.Tyr191fs	coding	Pathogenic
13	40808421	A	AT	C40808432T	SLC25A15	NM_014252.4(SLC25A15):c.623-7dup	noncoding	Benign
13	40808452	ATG	A	G40808454T	SLC25A15	NM_014252.4(SLC25A15):c.639_640del:p.Met213fs	coding	Pathogenic
13	40809622	C	CG	A40809624G	SLC25A15	NM_014252.4(SLC25A15):c.862dup:p.Glu288fs	coding	Pathogenic
13	41065289	TA	T	A41065310G	WBP4	NM_007187.5(WBP4):c.262+23del	noncoding	Benign/Likely_benign
13	42600984	AAGCTC	A	A42600985T	TNFSF11	NM_003701.4(TNFSF11):c.532+4_532+8del	noncoding	Pathogenic
13	42606892	GC	G	C42606893T	TNFSF11	NM_003701.4(TNFSF11):c.929del:p.Ala310fs	coding	Pathogenic
13	47954571	AAG	A	G47954575A	SUCLA2	NM_003850.3(SUCLA2):c.803-16_803-15del	noncoding	Benign
13	47954574	AG	A	G47954575A	SUCLA2	NM_003850.3(SUCLA2):c.803-18del	noncoding	Benign
13	47954575	GA	G	A47954580T	SUCLA2	NM_003850.3(SUCLA2):c.803-19del	noncoding	Benign
13	47968566	ATCATGTTAGACAAAAGAAGATACTTTACCAGCTCCATCTGAA	TTTAT	A47968566T	SUCLA2	NM_003850.3(SUCLA2):c.789_802+29delinsATAAA	noncoding	Pathogenic
13	47996862	A	AT	A47996864T	SUCLA2	NM_003850.3(SUCLA2):c.251dup:p.Tyr84Ter	coding	Pathogenic
13	47997267	CAT	C	A47997270C	SUCLA2	NM_003850.3(SUCLA2):c.91-246_91-245del	noncoding	Benign
13	48001432	CG	C	G48001435C	SUCLA2	Single_allele	noncoding	Benign
13	48303925	AC	A	C48303931G	RB1	NM_000321.3(RB1):c.19del:p.Arg7fs	coding	Pathogenic
13	48303940	GCCGCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCA	G	A48303946G	RB1	NM_000321.3(RB1):c.34_71del:p.Thr12fs	coding	Pathogenic
13	48303946	ACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCACCG	A	T48303957C	RB1	NM_000321.3(RB1):c.45_79del:p.Ala16fs	coding	Pathogenic
13	48303946	ACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCACCGCCG	A	G48303955C	RB1	NM_000321.3(RB1):c.43_80del:p.Ala15fs	coding	Pathogenic
13	48303957	T	TGCCGCCGCGGAACCCCAGGCACCGCCGCCGCC	C48303974A	RB1	NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1]:p.Pro21fs	coding	Pathogenic
13	48303957	T	TGCCGCCGCGGAACCCCCGGCACCGCC	C48303992G	RB1	NM_000321.3(RB1):c.54_79dup:p.Pro27fs	coding	Pathogenic
13	48303969	A	AC	G48303975C	RB1	NM_000321.3(RB1):c.62dup:p.Ala22fs	coding	Pathogenic
13	48304038	G	GC	T48304041C	RB1	NM_000321.3(RB1):c.128dup:p.Leu44fs	coding	Pathogenic
13	48307304	AC	A	C48307306T	RB1	NM_000321.3(RB1):c.164del:p.Pro55fs	coding	Pathogenic
13	48307315	C	CT	G48307317T	RB1	NM_000321.3(RB1):c.174dup:p.Ala59fs	coding	Pathogenic
13	48307370	AACTT	A	A48307371G	RB1	NM_000321.3(RB1):c.229_232del:p.Thr77fs	coding	Pathogenic
13	48307420	T	TA	C48307425A	RB1	NM_000321.3(RB1):c.264+18dup	noncoding	Benign
13	48307582	CGGTGGTTCATGCCTGTAATCCTACCACTTTGGGAGGCTGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAAAAAAAAAAAAATTAGCAGGGTGTGGCGTGCGCCTGTAGTCCCAGCTATTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGCAACAGAGCGAGAGTCTGTCTCAAAAAAAAAAAAAGTTTGAAAAAAATTCCTCCATAAATGCCTCCCACCAAACTATTTTAAAGCAGGTCTTAGTTATATTTTATTCACTATGATACAAGGACTTTTAAAAAAACACCGCCATACCTTATAAAATAATTTTTATACCTTCTAATATGCAATCAGTGTTCAGATTTCCTGACTGACTCAGAATTAGTTTTGTTAGAATTCAGGATCTTGAAAATATATTGATATATTCCTTTCATTTTTTCTTTGCGTAAGTATAGATGTATATGTTTAATAAAAGGAGCAAATAATTACTAGAGTTTTATATGTACTGGGGCAATAGTATAAGAATTTTACATAGCCGGGCATGGTGGTGTGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGACGATCACTTGAACCTGGGAGGTGGAGGTTACAGTAAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACACAGGAAGACCCTGTTGCAAAAAAAAATAAATAAAAATAAGGCTGGGCGT	C	T48307588C	RB1	NM_000321.3(RB1):c.264+182_264+980del	noncoding	Benign
13	48342352	CTTATTTAA	C	A48342355T	RB1	NM_000321.3(RB1):c.265-244_265-237del	noncoding	Benign
13	48342616	GA	G	A48342621G	RB1	NM_000321.3(RB1):c.287del:p.Lys96fs	coding	Pathogenic
13	48342710	AT	A	T48342711C	RB1	NM_000321.3(RB1):c.377del:p.Ile126fs	coding	Pathogenic
13	48345078	A	AGT	C48345083G	RB1	NM_000321.2(RB1):c.382_383dupGT	noncoding	Pathogenic
13	48345086	TA	T	A48345089T	RB1	NM_000321.3(RB1):c.390del:p.Lys130fs	coding	Pathogenic
13	48345097	AC	A	C48345098T	RB1	NM_000321.3(RB1):c.399del:p.Leu134fs	coding	Pathogenic
13	48345115	AT	A	T48345116A	RB1	NM_000321.3(RB1):c.417del:p.Asp139fs	coding	Pathogenic
13	48345150	CTG	C	G48345152T	RB1	NM_000321.3(RB1):c.453_454del:p.Leu152fs	coding	Pathogenic
13	48345151	TG	T	G48345152T	RB1	NM_000321.3(RB1):c.453del:p.Leu151_Leu152insTer	coding	Pathogenic
13	48345157	AG	A	G48345158A	RB1	NM_000321.3(RB1):c.459del:p.Lys154fs	coding	Pathogenic
13	48347829	TG	T	G48347830T	RB1	NM_000321.3(RB1):c.506del:p.Cys169fs	coding	Pathogenic
13	48347829	T	TG	T48347831G	RB1	NM_000321.3(RB1):c.506dup:p.Cys169fs	coding	Pathogenic
13	48347846	GAC	G	C48347850A	RB1	NM_000321.3(RB1):c.526_527del:p.Gln176fs	coding	Pathogenic
13	48347847	AC	A	C48347848A	RB1	NM_000321.3(RB1):c.524del:p.Thr175fs	coding	Pathogenic
13	48349007	AT	A	T48349012A	RB1	NM_000321.3(RB1):c.596del:p.Leu199fs	coding	Pathogenic
13	48349012	TA	T	A48349013T	RB1	NM_000321.3(RB1):c.597del:p.Leu199fs	coding	Pathogenic
13	48359859	A	AT	A48359874T	RB1	NM_000321.3(RB1):c.608-144dup	noncoding	Benign
13	48360004	A	AT	C48360014T	RB1	NM_000321.3(RB1):c.608-4dup	noncoding	Benign/Likely_benign
13	48360004	AT	A	T48360013C	RB1	NM_000321.3(RB1):c.608-4del	noncoding	Benign/Likely_benign
13	48360043	CT	C	T48360044G	RB1	NM_000321.3(RB1):c.635del:p.Leu212fs	coding	Pathogenic
13	48362492	CT	C	T48362500C	RB1	NM_000321.3(RB1):c.719-315del	noncoding	Benign
13	48362863	G	GT	C48362865T	RB1	NM_000321.3(RB1):c.768dup:p.Gln257fs	coding	Pathogenic
13	48362882	GA	G	A48362883T	RB1	NM_000321.3(RB1):c.787del:p.Arg262_Ile263insTer	coding	Pathogenic
13	48362908	CA	C	A48362910G	RB1	NM_000321.3(RB1):c.814del:p.Arg272fs	coding	Pathogenic
13	48362934	G	GA	C48362937A	RB1	NM_000321.3(RB1):c.840dup:p.His281fs	coding	Pathogenic
13	48362952	G	GTA	A48362953T	RB1	NM_000321.3(RB1):c.856_857insTA:p.Asp286fs	coding	Pathogenic
13	48363204	G	GT	A48363220T	RB1	NM_000321.3(RB1):c.861+262dup	noncoding	Benign
13	48363204	GT	G	T48363219A	RB1	NM_000321.3(RB1):c.861+262del	noncoding	Benign
13	48364893	GGT	G	T48364895A	RB1	NM_000321.3(RB1):c.863_864del:p.Val288fs	noncoding	Pathogenic
13	48367516	AC	A	C48367517G	RB1	NM_000321.3(RB1):c.963del:p.Arg320_Tyr321insTer	coding	Pathogenic
13	48367532	TA	T	A48367537T	RB1	NM_000321.3(RB1):c.983del:p.Asn328fs	coding	Pathogenic
13	48367532	T	TA	T48367538A	RB1	NM_000321.3(RB1):c.983dup:p.Asn328fs	coding	Pathogenic
13	48367538	TA	T	A48367541G	RB1	NM_000321.3(RB1):c.987del:p.Asp330fs	coding	Pathogenic
13	48367548	GA	G	A48367549T	RB1	NM_000321.3(RB1):c.995del:p.Asp332fs	coding	Pathogenic
13	48367583	TCAGA	T	A48367585T	RB1	NM_000321.3(RB1):c.1031_1034del:p.Gln344fs	coding	Pathogenic
13	48367601	CAGGTATTGCACATGGTATATTTGATTGATTTGCTTTAGATATAGGTTGATACTGATATAGGTAGATTATATAGTCTTTAGCTTAGTGACCTTTAGATATCATTTATAACAAATTACTTTCAAATGTCTTTATACAAAGAAAAGTTTAACAGTATTTTAAGCATATAACTT	ATCAATAA	C48367601A	RB1	NM_000321.3(RB1):c.1047_1049+168delinsATCAATAA	coding	Pathogenic
13	48368518	GTTATTTA	G	T48368519G	RB1	NM_000321.3(RB1):c.1050-8_1050-2del	noncoding	Pathogenic
13	48368580	TA	T	A48368582T	RB1	NM_000321.3(RB1):c.1105del:p.Ile369fs	coding	Pathogenic
13	48368620	CT	C	T48368624A	RB1	NM_000321.3(RB1):c.1127+20del	noncoding	Benign
13	48373439	A	AT	A48373444T	RB1	NM_000321.3(RB1):c.1166dup:p.Leu389fs	coding	Pathogenic
13	48376948	CT	C	T48376949G	RB1	NM_000321.3(RB1):c.1247del:p.Leu416fs	coding	Pathogenic
13	48376980	TA	T	A48376983G	RB1	NM_000321.3(RB1):c.1281del:p.Glu428fs	coding	Pathogenic
13	48379519	C	CA	T48379534A	RB1	NM_000321.3(RB1):c.1333-61dup	noncoding	Benign
13	48379619	AT	A	T48379621A	RB1	NM_000321.3(RB1):c.1360del:p.Tyr454fs	coding	Pathogenic
13	48379957	TA	T	A48379983T	RB1	NM_000321.3(RB1):c.1390-70del	noncoding	Benign
13	48379957	T	TA	T48379984A	RB1	NM_000321.3(RB1):c.1390-70dup	noncoding	Benign
13	48380023	C	CT	A48380037T	RB1	NM_000321.3(RB1):c.1390-17dup	noncoding	Benign
13	48380093	TTTACTTTTAGTAAAAAATTTTTTTCTTTTTATAGAAGTAAGTATTTTATAATCTTTTTTTTTTTCCTTTAGCAAACTTCTGAATGACAACATTTTTCATATGTC	T	A48380096T	RB1	NM_000321.3(RB1):c.1421+12_1456del	noncoding	Pathogenic
13	48380190	CATATGTCTTT	C	A48380193T	RB1	NM_000321.3(RB1):c.1450_1459del:p.Met484fs	coding	Pathogenic
13	48380234	ATATAGCAGTAAGTTAAATTTTCATAAATAAACACTTTTGTTCAATTTAAAGTTAAAATGTGGTGTGTTTCTTTGGTCGGGGGAGAGGGATAG	A	A48380236G	RB1	NM_000321.3(RB1):c.1493_1498+86del	coding	Pathogenic
13	48381183	CA	C	A48381190T	RB1	NM_000321.3(RB1):c.1499-57del	noncoding	Benign
13	48381227	C	CT	C48381238T	RB1	NM_000321.3(RB1):c.1499-10dup	noncoding	Benign
13	48381257	TC	T	C48381258A	RB1	NM_000321.3(RB1):c.1510del:p.Gln504fs	coding	Pathogenic
13	48381266	T	TGATTC	T48381272G	RB1	NM_000321.3(RB1):c.1519_1523dup:p.Gly509fs	coding	Pathogenic
13	48381278	AG	A	G48381279A	RB1	NM_000321.3(RB1):c.1531del:p.Asp511fs	coding	Pathogenic
13	48381279	G	GA	T48381281A	RB1	NM_000321.3(RB1):c.1532dup:p.Asp511fs	coding	Pathogenic
13	48381316	TA	T	A48381320G	RB1	NM_000321.3(RB1):c.1572del:p.Ala525fs	coding	Pathogenic
13	48381335	CA	C	A48381338G	RB1	NM_000321.3(RB1):c.1590del:p.Lys530_Val531insTer	coding	Pathogenic
13	48381340	TG	T	G48381341A	RB1	NM_000321.3(RB1):c.1593del:p.Ile532fs	coding	Pathogenic
13	48381421	TG	T	G48381423A	RB1	NM_000321.3(RB1):c.1675del:p.Glu559fs	coding	Pathogenic
13	48381523	C	CAA	T48381525A	RB1	NM_000321.3(RB1):c.1695+81_1695+82insAA	noncoding	Benign
13	48412354	A	ACATG	C48412361T	LPAR6;RB1	NM_001162498.3(LPAR6):c.66_69dup:p.Phe24fs	coding	Pathogenic
13	48453019	ACAAT	A	T48453023A	RB1	NM_000321.3(RB1):c.1726_1729del:p.Ser576fs	coding	Pathogenic
13	48453039	G	GA	C48453041A	RB1	NM_000321.3(RB1):c.1743dup:p.Pro582fs	coding	Pathogenic
13	48453049	T	TCA	C48453053A	RB1	NM_000321.3(RB1):c.1754_1755dup:p.Leu586fs	coding	Pathogenic
13	48456208	CT	C	T48456211C	RB1	NM_000321.3(RB1):c.1822del:p.Ser608fs	coding	Pathogenic
13	48456272	CAG	C	G48456276C	RB1	NM_000321.3(RB1):c.1887_1888del:p.Glu629fs	coding	Pathogenic
13	48456278	CACAA	C	A48456279G	RB1	NM_000321.3(RB1):c.1890_1893del:p.Ala632fs	coding	Pathogenic
13	48456304	C	CA	G48456306A	RB1	NM_000321.3(RB1):c.1916dup:p.Lys640fs	coding	Pathogenic
13	48456323	CCT	C	C48456328T	RB1	NM_000321.3(RB1):c.1939_1940del:p.Leu647fs	coding	Pathogenic
13	48456323	CCTCT	C	C48456326T	RB1	NM_000321.3(RB1):c.1937_1940del:p.Ser646fs	coding	Pathogenic
13	48456326	CTCTT	C	T48456329A	RB1	NM_000321.3(RB1):c.1940_1943del:p.Leu647fs	coding	Pathogenic
13	48456334	CT	C	T48456335G	RB1	NM_000321.3(RB1):c.1946del:p.Leu649fs	coding	Pathogenic
13	48459696	C	CT	A48459698T	RB1	NM_000321.3(RB1):c.1970dup:p.Ala658fs	coding	Pathogenic
13	48459739	C	CT	G48459741T	RB1	NM_000321.3(RB1):c.2013dup:p.Glu672Ter	coding	Pathogenic
13	48459760	A	AT	A48459762T	RB1	NM_000321.3(RB1):c.2034dup:p.Ile679fs	coding	Pathogenic
13	48459761	T	TATCA	T48459766A	RB1	NM_000321.3(RB1):c.2035_2038dup:p.Ile680fs	coding	Pathogenic
13	48459795	AATGAGTATGAACTC	A	T48459801A	RB1	NM_000321.3(RB1):c.2074_2087del:p.Tyr692fs	coding	Pathogenic
13	48463745	C	CATGTATGGCAT	C48463760T	RB1	NM_000321.3(RB1):c.2125_2135dup:p.Lys713fs	coding	Pathogenic
13	48463747	TG	T	G48463748T	RB1	NM_000321.3(RB1):c.2124del:p.Met708fs	coding	Pathogenic
13	48463795	T	TTG	A48463799G	RB1	NM_000321.3(RB1):c.2173_2174dup:p.Val725_Thr726insTer	coding	Pathogenic
13	48463833	G	GA	G48463835A	RB1	NM_000321.3(RB1):c.2210dup:p.Thr738fs	coding	Pathogenic
13	48464958	CT	C	T48464982A	RB1	NM_000321.3(RB1):c.2212-16del	noncoding	Benign
13	48464982	TAC	T	A48464983T	RB1	NM_000321.3(RB1):c.2212-15_2212-14del	noncoding	Benign
13	48464982	T	TA	C48464984A	RB1	NM_000321.3(RB1):c.2212-15dup	noncoding	Benign
13	48464995	CAGACATTCAAACGTGTTTTGATCAA	C	C48464999A	RB1	NC_000013.10:g.49039132_49039156del	noncoding	Pathogenic
13	48465020	AAGAAG	A	A48465023G	RB1	NM_000321.3(RB1):c.2237_2241del:p.Glu746fs	coding	Pathogenic
13	48465065	TC	T	C48465066A	RB1	NM_000321.3(RB1):c.2280del:p.Phe760fs	coding	Pathogenic
13	48465118	CA	C	A48465122G	RB1	NM_000321.3(RB1):c.2325+11del	noncoding	Benign
13	48465224	T	TA	C48465226A	RB1	NM_000321.3(RB1):c.2346dup:p.Pro783fs	coding	Pathogenic
13	48465247	TACA	T	C48465249G	RB1	NM_000321.3(RB1):c.2370_2372del:p.Tyr790_Lys791delinsTer	coding	Pathogenic
13	48465250	A	AGTGT	A48465251G	RB1	NM_000321.3(RB1):c.2371_2372insGTGT:p.Lys791fs	coding	Pathogenic
13	48465260	GTTCACCC	G	C48465263A	RB1	NM_000321.3(RB1):c.2384_2390del:p.Ser795fs	coding	Pathogenic
13	48465307	A	AAGAG	T48465312A	RB1	NM_000321.3(RB1):c.2429_2432dup:p.Ser811fs	coding	Pathogenic
13	48465357	T	TC	A48465360C	RB1	NM_000321.3(RB1):c.2480dup:p.Arg828fs	coding	Pathogenic
13	48473363	CTTAGTATCAA	C	A48473366G	RB1	NM_000321.3(RB1):c.2496_2505del:p.Ser834fs	coding	Pathogenic
13	48477412	CT	C	T48477418C	RB1	NM_000321.3(RB1):c.2713+14del	noncoding	Benign
13	49541679	T	TA	G49541681A	RCBTB1	NM_018191.4(RCBTB1):c.1320dup:p.Ile441fs	coding	Pathogenic
13	49544790	C	CTTCA	G49544795T	RCBTB1	NM_018191.4(RCBTB1):c.1115_1118dup:p.Lys373fs	coding	Pathogenic
13	49544819	ATTCT	A	T49544825C	RCBTB1	NM_018191.4(RCBTB1):c.1086_1089del:p.Lys362fs	coding	Pathogenic
13	49551958	AT	A	T49551975A	RCBTB1	NM_018191.4(RCBTB1):c.711+219del	noncoding	Benign
13	49552181	GT	G	T49552183C	RCBTB1	NM_018191.4(RCBTB1):c.707del:p.Asn236fs	coding	Pathogenic
13	49552345	CA	C	A49552352C	RCBTB1	NM_018191.4(RCBTB1):c.604-61del	noncoding	Benign
13	49559984	C	CAAGAGATTGGTACAGCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCACTACCTCTCGCGTCACCCTATCAAACTCGAGACTACCACACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A49560000C	RCBTB1	NM_018191.4(RCBTB1):c.377_378insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTGTGGTAGTCTCGAGTTTGATAGGGTGACGCGAGAGGTAGTGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGCTGTACCAATCTCTT:p.Leu126delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValTrpTer	coding	Pathogenic
13	49559997	C	CA	G49559999A	RCBTB1	NM_018191.4(RCBTB1):c.364dup:p.Cys122fs	coding	Pathogenic
13	49560103	C	CA	T49560110A	RCBTB1	NM_018191.4(RCBTB1):c.278-25dup	noncoding	Benign
13	49566724	TC	T	C49566726A	RCBTB1	NM_018191.4(RCBTB1):c.170del:p.Gly57fs	coding	Pathogenic
13	49566783	GT	G	T49566791C	RCBTB1	NM_018191.4(RCBTB1):c.127-16del	noncoding	Benign
13	49567231	CTT	C	T49567232G	RCBTB1	NM_018191.4(RCBTB1):c.47_48del:p.Gln16fs	coding	Pathogenic
13	50910078	TG	T	G50910080C	RNASEH2B	NM_024570.4(RNASEH2B):c.4del:p.Ala2fs	coding	Pathogenic
13	50910138	CA	C	A50910139G	RNASEH2B	NM_024570.4(RNASEH2B):c.63del:p.Glu22fs	coding	Pathogenic
13	50927467	A	AC	T50927472C	RNASEH2B	NM_024570.4(RNASEH2B):c.129dup:p.Cys44fs	coding	Pathogenic
13	50934875	G	GT	C50934882T	RNASEH2B	NM_024570.4(RNASEH2B):c.322-4dup	noncoding	Benign
13	50943304	C	CT	C50943313T	RNASEH2B	NM_024570.4(RNASEH2B):c.437-9dup	noncoding	Benign
13	50943304	CT	C	T50943312C	RNASEH2B	NM_024570.4(RNASEH2B):c.437-9del	noncoding	Benign
13	50943359	AG	A	G50943360C	RNASEH2B	NM_024570.4(RNASEH2B):c.476del:p.Ser159fs	coding	Pathogenic
13	51934778	CTG	C	T51934779C	ATP7B	NM_000053.4(ATP7B):c.4374_4375del:p.Arg1459fs	coding	Pathogenic
13	51934870	C	CA	C51934872A	ATP7B	NM_000053.4(ATP7B):c.4283dup:p.Ser1429fs	coding	Pathogenic/Likely_pathogenic
13	51934895	T	TC	A51934899C	ATP7B	NM_000053.4(ATP7B):c.4258dup:p.Asp1420fs	coding	Pathogenic
13	51937139	GAA	G	A51937153C	ATP7B	NM_000053.4(ATP7B):c.4021+135_4021+136del	noncoding	Benign
13	51937139	GA	G	A51937154C	ATP7B	NM_000053.4(ATP7B):c.4021+136del	noncoding	Benign
13	51937332	C	CGT	A51937335G	ATP7B	NM_000053.4(ATP7B):c.3963_3964dup:p.Arg1322fs	coding	Pathogenic
13	51937394	CT	C	T51937395G	ATP7B	NM_000053.4(ATP7B):c.3904-2del	coding	Pathogenic
13	51937484	GGAC	G	A51937489T	ATP7B	NM_000053.4(ATP7B):c.3889GTC[1]:p.Val1298del	coding	Pathogenic
13	51937488	GACGTCGGC	G	A51937489T	ATP7B	NM_000053.4(ATP7B):c.3883_3890del:p.Ala1295fs	coding	Pathogenic
13	51937516	G	GTGCCGGTGCCAATGGCCACACCCATGTC	T51937549G	ATP7B	NM_000053.4(ATP7B):c.3835_3862dup:p.Thr1288fs	coding	Pathogenic
13	51937533	C	CA	C51937535A	ATP7B	NM_000053.4(ATP7B):c.3845dup:p.Ala1283fs	coding	Pathogenic
13	51937573	A	AC	A51937578C	ATP7B	NM_000053.4(ATP7B):c.3805dup:p.Val1269fs	coding	Pathogenic
13	51937611	C	CTG	G51937614T	ATP7B	NM_000053.4(ATP7B):c.3766_3767dup:p.Gln1256fs	coding	Pathogenic
13	51937636	T	TTG	C51937641T	ATP7B	NM_000053.4(ATP7B):c.3741_3742dup:p.Lys1248fs	coding	Pathogenic
13	51939056	T	TTAATGTACCAG	G51939057T	ATP7B	NM_000053.4(ATP7B):c.3693_3694insCTGGTACATTA:p.Thr1232delinsLeuValHisTer	coding	Pathogenic
13	51939058	GC	G	C51939059A	ATP7B	NM_000053.4(ATP7B):c.3691del:p.Ala1231fs	coding	Pathogenic
13	51939075	CTTCCGGT	C	T51939077G	ATP7B	NM_000053.4(ATP7B):c.3668_3674del:p.Asn1223fs	coding	Pathogenic
13	51939085	T	TC	G51939091C	ATP7B	NM_000053.4(ATP7B):c.3664dup:p.Asp1222fs	coding	Pathogenic
13	51939095	TCAGAAC	T	G51939098C	ATP7B	NM_000053.4(ATP7B):c.3649_3654del:p.Val1217_Leu1218del	coding	Pathogenic/Likely_pathogenic
13	51939188	GCA	G	A51939192C	ATP7B	NM_000053.4(ATP7B):c.3560_3561del:p.Val1187fs	coding	Pathogenic
13	51941154	AATGGTTAAACC	A	A51941155G	ATP7B	NM_000053.4(ATP7B):c.3472_3482del:p.Gly1158fs	coding	Pathogenic
13	51942444	GCGCT	G	G51942446A	ATP7B	NM_000053.4(ATP7B):c.3350_3353del:p.Glu1117fs	coding	Pathogenic/Likely_pathogenic
13	51942462	GAT	G	A51942463G	ATP7B	NM_000053.4(ATP7B):c.3334_3335del:p.Ile1112fs	coding	Pathogenic
13	51944168	TC	T	C51944172A	ATP7B	NM_000053.4(ATP7B):c.3183del:p.Thr1062fs	coding	Pathogenic
13	51944211	AT	A	T51944212C	ATP7B	NM_000053.4(ATP7B):c.3140del:p.Asp1047fs	coding	Pathogenic
13	51944267	TCT	G	T51944267G	ATP7B	NM_000053.4(ATP7B):c.3083_3085delinsC:p.Lys1028fs	coding	Pathogenic
13	51944279	TCA	T	C51944282G	ATP7B	NM_000053.4(ATP7B):c.3071_3072del:p.Val1024fs	coding	Pathogenic
13	51946390	CA	C	A51946391G	ATP7B	NM_000053.4(ATP7B):c.2953del:p.Cys985fs	coding	Pathogenic
13	51946451	CT	C	T51946452G	ATP7B	NM_000053.4(ATP7B):c.2892del:p.Glu965fs	coding	Pathogenic
13	51946472	TG	T	G51946476T	ATP7B	NM_000053.4(ATP7B):c.2871del:p.Asn958fs	coding	Pathogenic
13	51950086	AGCACAGAGCCATGT	A	C51950090T	ATP7B	NM_000053.4(ATP7B):c.2637_2650del:p.His880_Gly881insTer	coding	Pathogenic
13	51950093	AGCCATGTGCATTTATAGACCCC	A	C51950096A	ATP7B	NM_000053.4(ATP7B):c.2622_2643del:p.Gly875fs	coding	Pathogenic
13	51950132	CG	C	G51950135T	ATP7B	NM_000053.4(ATP7B):c.2604del:p.Gly869fs	coding	Pathogenic
13	51950147	CT	C	T51950148G	ATP7B	NM_000053.4(ATP7B):c.2589del:p.Val864fs	coding	Pathogenic
13	51950148	TG	T	G51950150C	ATP7B	NM_000053.4(ATP7B):c.2588del:p.Pro863fs	coding	Pathogenic
13	51950333	CT	C	T51950336C	ATP7B	NM_000053.4(ATP7B):c.2513del:p.Lys838fs	coding	Pathogenic/Likely_pathogenic
13	51950336	TC	T	C51950341A	ATP7B	NM_000053.4(ATP7B):c.2510del:p.Gly837fs	coding	Pathogenic
13	51960305	AG	A	G51960307A	ATP7B	NM_000053.4(ATP7B):c.1963del:p.Leu655fs	coding	Pathogenic
13	51961911	TTC	T	T51961912C	ATP7B	NM_000053.4(ATP7B):c.1870_1871del:p.Glu624fs	coding	Pathogenic
13	51964970	C	CA	T51964972A	ATP7B	NM_000053.4(ATP7B):c.1770dup:p.Gly591fs	coding	Pathogenic
13	51964994	C	CT	A51964996T	ATP7B	NM_000053.4(ATP7B):c.1746dup:p.Glu583fs	coding	Pathogenic
13	51965001	GT	G	T51965002G	ATP7B	NM_000053.4(ATP7B):c.1739del:p.His580fs	coding	Pathogenic/Likely_pathogenic
13	51968433	ACAGTACTTACTGT	A	T51968437C	ATP7B	NM_000053.4(ATP7B):c.1705_1707+10del	noncoding	Pathogenic
13	51968496	TCAAAACC	T	A51968499G	ATP7B	NM_000053.4(ATP7B):c.1648_1654del:p.Gly550fs	coding	Pathogenic
13	51968501	AC	A	C51968504A	ATP7B	NM_000053.4(ATP7B):c.1649del:p.Gly550fs	coding	Pathogenic
13	51970511	CCTTT	C	T51970514A	ATP7B	NM_000053.4(ATP7B):c.1520_1523del:p.Glu507fs	coding	Pathogenic
13	51970522	T	TA	G51970524A	ATP7B	NM_000053.4(ATP7B):c.1512dup:p.Asn505Ter	coding	Pathogenic/Likely_pathogenic
13	51970691	AGTTT	A	T51970693C	ATP7B	NM_000053.4(ATP7B):c.1340_1343del:p.Gln447fs	coding	Pathogenic/Likely_pathogenic
13	51973976	GCT	G	C51973979G	ATP7B	NM_000053.4(ATP7B):c.1242_1243del:p.Arg414fs	coding	Pathogenic
13	51974045	AC	A	C51974047G	ATP7B	NM_000053.4(ATP7B):c.1174del:p.Val392fs	coding	Pathogenic
13	51974083	GC	G	C51974085T	ATP7B	NM_000053.4(ATP7B):c.1136del:p.Gly379fs	coding	Pathogenic
13	51974111	C	CAG	G51974114A	ATP7B	NM_000053.4(ATP7B):c.1107_1108dup:p.Cys370fs	coding	Pathogenic
13	51974119	GC	G	C51974121G	ATP7B	NM_000053.4(ATP7B):c.1100del:p.Gly367fs	coding	Pathogenic
13	51974221	C	CCCTT	G51974227C	ATP7B	NM_000053.4(ATP7B):c.995_998dup:p.Ser334fs	coding	Pathogenic
13	51974237	G	GGAAGAGAAACTTTAAAATTCCCAGGTGGAAGT	C51974271A	ATP7B	NM_000053.4(ATP7B):c.951_982dup:p.Pro328fs	coding	Pathogenic
13	51974656	CTGA	C	G51974658A	ATP7B	NM_000053.4(ATP7B):c.561_563del:p.Tyr187_Gln188delinsTer	coding	Pathogenic
13	51974658	GAT	G	T51974660A	ATP7B	NM_000053.4(ATP7B):c.560_561del:p.Tyr187fs	coding	Pathogenic
13	51974659	A	AAG	T51974660A	ATP7B	NM_000053.4(ATP7B):c.560_561insCT:p.Gln188fs	coding	Pathogenic
13	51974691	AG	A	G51974692A	ATP7B	NM_000053.4(ATP7B):c.528del:p.Ser177fs	coding	Pathogenic
13	51974754	A	ATGCACAGG	C51974755T	ATP7B	NM_000053.4(ATP7B):c.465_466insCCTGTGCA:p.Ser156fs	coding	Pathogenic
13	51974797	CTGGGCAGGCA	C	T51974798A	ATP7B	NM_000053.4(ATP7B):c.413_422del:p.Leu138fs	coding	Pathogenic
13	51974840	TC	T	C51974841T	ATP7B	NM_000053.4(ATP7B):c.379del:p.Glu127fs	coding	Pathogenic
13	51974851	G	GGCTTCGAA	C51974854T	ATP7B	NM_000053.4(ATP7B):c.368_369insTTCGAAGC:p.Ile125fs	coding	Pathogenic
13	51975045	T	TG	C51975048G	ATP7B	NM_000053.4(ATP7B):c.174dup:p.Thr59fs	coding	Pathogenic/Likely_pathogenic
13	51975097	AT	A	T51975099G	ATP7B	NM_000053.4(ATP7B):c.122del:p.Asn41fs	coding	Pathogenic
13	51975115	C	CA	T51975116A	ATP7B	NM_000053.4(ATP7B):c.104_105insT:p.Lys35fs	coding	Pathogenic
13	51975127	T	TG	T51975130G	ATP7B	NM_000053.4(ATP7B):c.92dup:p.Ala32fs	coding	Pathogenic
13	51975167	A	AT	C51975169T	ATP7B	NM_000053.4:c.52dup	coding	Pathogenic
13	52011286	C	CT	C52011290T	ATP7B	NM_000053.4(ATP7B):c.52dup:p.Ile18fs	noncoding	Pathogenic
13	52011293	AC	A	C52011294T	ATP7B	NM_000053.4(ATP7B):c.44del:p.Ser15fs	coding	Pathogenic
13	52011299	CCCTTCTCTGGCTGTGATCTGTCTCT	C	T52011303G	ATP7B	NM_000053.4(ATP7B):c.14_38del:p.Glu5fs	coding	Pathogenic
13	52011455	T	TCGGCG	T52011465G	ATP7B;ALG11	NM_000053.4(ATP7B):c.-123_-119dupCGCCG	noncoding	Benign/Likely_benign
13	52378339	CCTTT	C	C52378344T	THSD1	NM_018676.4(THSD1):c.1627_1630del:p.Lys543fs	coding	Pathogenic
13	59666357	C	CAA	G59666374A	DIAPH3	NM_001042517.2(DIAPH3):c.*225_*226dup	noncoding	Benign
13	59666357	C	CA	G59666374A	DIAPH3	NM_001042517.2(DIAPH3):c.*226dup	noncoding	Benign
13	59774009	CAAT	C	A59774014T	DIAPH3	NM_001042517.2(DIAPH3):c.3319+177_3319+179del	noncoding	Benign
13	59774253	T	TA	T59774265A	DIAPH3	NM_001042517.2(DIAPH3):c.3260-6dup	noncoding	Benign
13	59810932	AT	A	T59810936G	DIAPH3	NM_001042517.2(DIAPH3):c.3028-10del	noncoding	Benign
13	59833092	A	AT	A59833100T	DIAPH3	NM_001042517.2(DIAPH3):c.3027+14dup	noncoding	Benign
13	59924496	TA	T	A59924503G	DIAPH3	NM_001042517.2(DIAPH3):c.2170+278del	noncoding	Benign
13	59992846	GAA	G	A59992862C	DIAPH3	NM_001042517.2(DIAPH3):c.1015-265_1015-264del	noncoding	Benign
13	59992846	GA	G	A59992863C	DIAPH3	NM_001042517.2(DIAPH3):c.1015-264del	noncoding	Benign
13	59992846	G	GA	C59992864A	DIAPH3	NM_001042517.2(DIAPH3):c.1015-280dup	noncoding	Benign
13	71866526	TGCCGCCGCC	T	C71866543G	DACH1	NM_080759.6(DACH1):c.220GGC[5]:p.Gly79_Gly81del	coding	Benign
13	72835370	TA	T	A72835383T	PIBF1	NM_006346.4(PIBF1):c.1223+15del	noncoding	Benign
13	72835370	T	TAA	T72835384A	PIBF1	NM_006346.4(PIBF1):c.1223+14_1223+15dup	noncoding	Benign
13	72835370	T	TA	T72835384A	PIBF1	NM_006346.4(PIBF1):c.1223+15dup	noncoding	Benign
13	72973577	G	GT	C72973588T	PIBF1	NM_006346.4(PIBF1):c.1965-4dup	noncoding	Benign
13	72973597	AAA	T	A72973597T	PIBF1	NM_006346.4(PIBF1):c.1971_1973delinsT:p.Leu657fs	coding	Pathogenic
13	75306248	CA	C	A75306260T	TBC1D4	NM_014832.5(TBC1D4):c.2752+64del	noncoding	Benign
13	75341114	T	TA	T75341116A	TBC1D4	NM_014832.5(TBC1D4):c.1611+10dup	noncoding	Benign
13	75349400	T	TA	T75349406A	TBC1D4	NM_014832.5(TBC1D4):c.1276-103dup	noncoding	Benign
13	75360101	T	TACAA	T75360107C	TBC1D4	NM_014832.5(TBC1D4):c.1081-247_1081-244dup	noncoding	Benign
13	75482304	G	GC	T75482306C	TBC1D4	Single_allele	noncoding	Benign
13	76992177	T	TGCTGGGCCCTGGC	C76992195G	CLN5	NM_006493.4(CLN5):c.84_96dup:p.Leu33fs	coding	Pathogenic
13	76992263	GC	G	C76992266T	CLN5	NM_006493.4(CLN5):c.168del:p.Tyr57fs	coding	Pathogenic
13	76995094	TATTGTCA	T	T76995096G	CLN5	NM_006493.4(CLN5):c.207_213del:p.Pro68_Tyr69insTer	coding	Pathogenic
13	76995139	CCA	C	C76995140G	CLN5	NM_006493.4(CLN5):c.251_252del:p.Pro84fs	coding	Pathogenic
13	77000383	TA	T	A77000403T	CLN5	NM_006493.4(CLN5):c.566-55del	noncoding	Benign
13	77000383	T	TA	T77000404A	CLN5	NM_006493.4(CLN5):c.566-55dup	noncoding	Benign
13	77000443	G	GT	A77000451T	CLN5	NM_006493.4(CLN5):c.566-8dup	noncoding	Benign/Likely_benign
13	77000490	A	AAC	A77000492C	CLN5	NM_006493.4(CLN5):c.599_600insCA:p.Lys200fs	coding	Pathogenic
13	77000570	TG	T	G77000571A	CLN5	NM_006493.4(CLN5):c.679del:p.Asp227fs	coding	Pathogenic
13	77000593	TTG	T	G77000597T	CLN5	NM_006493.4(CLN5):c.705_706del:p.Leu236fs	coding	Pathogenic/Likely_pathogenic
13	77000604	ACCTTTAAC	A	C77000605A	CLN5	NM_006493.4(CLN5):c.713_720del:p.Thr238fs	coding	Pathogenic/Likely_pathogenic
13	77000662	CA	C	A77000664G	CLN5	NM_006493.4(CLN5):c.772del:p.Arg258fs	coding	Pathogenic
13	77000701	GA	G	A77000704T	CLN5	NM_006493.4(CLN5):c.812del:p.Asn271fs	coding	Pathogenic
13	77000715	GTT	G	T77000719G	CLN5	NM_006493.4(CLN5):c.827_828del:p.Phe276fs	coding	Pathogenic
13	77000728	CAGGA	C	G77000730A	CLN5	NM_006493.4(CLN5):c.838_841del:p.Gly280fs	coding	Pathogenic/Likely_pathogenic
13	77000803	TTC	T	C77000805G	CLN5	NM_006493.4(CLN5):c.913_914del:p.Leu305fs	coding	Pathogenic
13	77000846	CAA	C	A77000848C	CLN5	NM_006493.4(CLN5):c.956_957del:p.Lys319fs	coding	Pathogenic
13	77000847	AA	CG	A77000847C	CLN5	NM_006493.4(CLN5):c.955_956delinsCG:p.Lys319Arg	coding	Benign/Likely_benign
13	77070727	GA	G	A77070741G	MYCBP2	NM_015057.5(MYCBP2):c.11824-17del	noncoding	Benign
13	77269935	CA	C	A77269938T	MYCBP2	NM_015057.5(MYCBP2):c.1260+56del	noncoding	Benign
13	78602384	AGGCACCGT	A	C78602387A	POU4F1	NM_006237.4(POU4F1):c.283_290del:p.Thr95fs	coding	Pathogenic
13	78602393	GGAAGTGGACGT	G	A78602395C	POU4F1	NM_006237.4(POU4F1):c.271_281del:p.Thr91fs	coding	Pathogenic
13	78602513	C	CAGCG	T78602518A	POU4F1	NM_006237.4(POU4F1):c.158_161dup:p.Leu55fs	coding	Pathogenic
13	85793838	CT	C	T85793843C	SLITRK6	NM_032229.3(SLITRK6):c.*144del	noncoding	Benign
13	85793850	C	CT	C85793860T	SLITRK6	NM_032229.3(SLITRK6):c.*132dup	noncoding	Benign
13	85796577	T	TG	A85796582G	SLITRK6	NM_032229.3(SLITRK6):c.-24-49dup	noncoding	Benign
13	85796687	C	CTTTTTT	C85796700T	SLITRK6	NM_032229.3(SLITRK6):c.-24-167_-24-162dup	noncoding	Benign
13	93545585	AT	A	T93545598A	GPC6	NM_005708.5(GPC6):c.319+177del	noncoding	Benign
13	93830263	CACAGAGCTGAAAAGGTACT	C	G93830267C	GPC6	NM_005708.5(GPC6):c.433_451del:p.Glu145fs	coding	Pathogenic
13	93830612	TAAA	T	A93830636C	GPC6	NM_005708.5(GPC6):c.711+91_711+93del	noncoding	Benign
13	93830612	TAA	T	A93830637C	GPC6	NM_005708.5(GPC6):c.711+92_711+93del	noncoding	Benign
13	93830612	TA	T	A93830638C	GPC6	NM_005708.5(GPC6):c.711+93del	noncoding	Benign
13	93830612	T	TAA	C93830639A	GPC6	NM_005708.5(GPC6):c.711+92_711+93dup	noncoding	Benign
13	93830612	T	TA	C93830639A	GPC6	NM_005708.5(GPC6):c.711+93dup	noncoding	Benign
13	94443496	TAGTCACTGGAGGGA	T	T94443499A	DCT	NM_001922.5(DCT):c.1307_1320del:p.Phe435_Phe436insTer	coding	Pathogenic/Likely_pathogenic
13	94574874	CA	C	A94574886G	TGDS	NM_014305.4(TGDS):c.983-23del	noncoding	Benign
13	94574874	C	CA	G94574887A	TGDS	NM_014305.4(TGDS):c.983-34dup	noncoding	Benign
13	94574884	AAAG	A	G94574887A	TGDS	NM_014305.4(TGDS):c.983-35_983-33del	noncoding	Benign
13	94574885	AAG	A	G94574887A	TGDS	NM_014305.4(TGDS):c.983-35_983-34del	noncoding	Benign
13	94577852	CTTAAT	C	T94577857G	TGDS	NM_014305.4(TGDS):c.825+148_825+152del	noncoding	Benign
13	94578370	A	AAGTGGCAAACATATT	A94578375G	TGDS	NM_014305.4(TGDS):c.660-201_660-200insCACTAATATGTTTGC	noncoding	Benign
13	99982753	CCCA	C	A99982780C	ZIC2	NM_007129.5(ZIC2):c.692ACC[8]:p.His239del	coding	Benign
13	99982916	GAC	G	A99982921G	ZIC2	NM_007129.5(ZIC2):c.857_858del:p.His286fs	coding	Pathogenic
13	99985025	CG	C	G99985026T	ZIC2	NM_007129.5(ZIC2):c.1156del:p.Val386fs	coding	Pathogenic
13	99985048	A	ATC	G99985054C	ZIC2	NM_007129.5(ZIC2):c.1182_1183dup:p.Cys395fs	coding	Pathogenic
13	99985446	CCAGCGGCGGCGG	C	A99985460G	ZIC2	NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1]:p.Ala467_Ala470del	coding	Benign
13	99985836	G	GT	A99985853T	ZIC2	NM_007129.5(ZIC2):c.*170dup	noncoding	Benign
13	99985836	G	GTT	A99985853T	ZIC2	NM_007129.5(ZIC2):c.*169_*170dup	noncoding	Benign
13	99985836	G	GTTT	A99985853T	ZIC2	NM_007129.5(ZIC2):c.*168_*170dup	noncoding	Benign
13	100089188	AGCAGCTGATG	A	G100089189C	PCCA	NM_000282.4(PCCA):c.69_78del:p.Gln23fs	coding	Pathogenic/Likely_pathogenic
13	100103230	ATAAC	A	C100103234G	PCCA	NM_000282.4(PCCA):c.183+274_183+277del	noncoding	Benign
13	100154867	ACT	A	C100154870A	PCCA	NM_000282.4(PCCA):c.301-109_301-108del	noncoding	Benign
13	100155162	T	TA	T100155174A	PCCA	NM_000282.4(PCCA):c.414+81dup	noncoding	Benign
13	100209362	GAC	G	C100209368T	PCCA	NM_000282.4(PCCA):c.505_506del:p.His169fs	coding	Pathogenic
13	100209368	C	CA	T100209370A	PCCA	NM_000282.4(PCCA):c.506dup:p.His169fs	coding	Pathogenic
13	100209422	GCAGAGGTTAATA	G	G100209425A	PCCA	NM_000282.4(PCCA):c.562_573del:p.Glu188_Thr191del	coding	Pathogenic
13	100209430	TA	T	A100209432T	PCCA	NM_000282.4(PCCA):c.569del:p.Asn190fs	coding	Pathogenic
13	100209559	T	TAC	T100209577C	PCCA	NM_000282.4(PCCA):c.600+97AC[9]	noncoding	Benign
13	100257382	C	CT	C100257389T	PCCA	NM_000282.4(PCCA):c.638-207dup	noncoding	Benign
13	100257628	G	GT	G100257630T	PCCA	NM_000282.4(PCCA):c.672dup:p.Gly225fs	coding	Pathogenic
13	100262393	C	CA	G100262407A	PCCA	NM_000282.4(PCCA):c.717-323dup	noncoding	Benign
13	100268828	TTTCATTCATTCA	T	T100268842C	PCCA	NM_000282.4(PCCA):c.914+46TTCA[3]	noncoding	Benign
13	100268828	T	TTTCA	C100268854T	PCCA	NM_000282.4(PCCA):c.914+46TTCA[7]	noncoding	Benign
13	100273178	A	AT	G100273186T	PCCA	NM_000282.4(PCCA):c.915-11dup	noncoding	Benign
13	100301460	G	GTC	T100301462C	PCCA	NM_000282.4(PCCA):c.1067_1068insCT:p.Glu357fs	coding	Pathogenic
13	100302999	G	GT	A100303001T	PCCA	NM_000282.4(PCCA):c.1284+2dup	coding	Pathogenic
13	100307164	CTTTTCTTT	C	T100307179C	PCCA	NM_000282.4(PCCA):c.1285-13_1285-6del	noncoding	Benign
13	100307177	C	CT	C100307185T	PCCA	NM_000282.4(PCCA):c.1285-8dup	noncoding	Benign
13	100330607	AC	A	C100330608G	PCCA	NM_000282.4(PCCA):c.1477del:p.Arg493fs	coding	Pathogenic
13	100330667	CA	C	A100330670G	PCCA	NM_000282.4(PCCA):c.1539del:p.Gly514fs	coding	Pathogenic
13	100340209	ATTGT	A	T100340214G	PCCA	NM_000282.4(PCCA):c.1598_1601del:p.Phe533fs	coding	Pathogenic
13	100368543	T	TA	G100368545A	PCCA	NM_000282.4(PCCA):c.1716dup:p.Val573fs	coding	Pathogenic
13	100425356	CA	C	A100425357G	PCCA	NM_000282.4(PCCA):c.1747-276del	noncoding	Benign
13	100449212	C	CAGAT	T100449218G	PCCA	NM_000282.4(PCCA):c.1846-38_1846-35dup	noncoding	Benign
13	100449246	TTTTAGTGTC	T	A100449250C	PCCA	NM_000282.4(PCCA):c.1846-2_1852del	noncoding	Pathogenic
13	100515552	CA	C	A100515554G	PCCA	NM_000282.4(PCCA):c.2027del:p.Lys676fs	coding	Pathogenic/Likely_pathogenic
13	100529957	CGGTGG	C	G100529968C	PCCA	NM_000282.4(PCCA):c.2119-140GGTGG[2]	noncoding	Benign
13	100530105	CTG	C	T100530108C	PCCA	NM_000282.4(PCCA):c.2129_2130del:p.Val710fs	coding	Pathogenic/Likely_pathogenic
13	100530318	C	CA	T100530325A	PCCA	NM_000282.4(PCCA):c.*158dup	noncoding	Benign/Likely_benign
13	100530454	TTGAA	T	T100530459G	PCCA	NM_001195087.2(GGACT):c.*1668TTCA[1]	noncoding	Benign
13	101055657	A	AT	A101055668T	NALCN	NM_052867.4(NALCN):c.5024-179dup	noncoding	Benign
13	101059674	C	CT	A101059687T	NALCN	NM_052867.4(NALCN):c.4905+132dup	noncoding	Benign
13	101059674	C	CTT	A101059687T	NALCN	NM_052867.4(NALCN):c.4905+132_4905+133dup	noncoding	Benign
13	101059674	CT	C	T101059686A	NALCN	NM_052867.4(NALCN):c.4905+143del	noncoding	Benign
13	101060143	T	TG	C101060145G	NALCN	NM_052867.4(NALCN):c.4756-177dup	noncoding	Benign
13	101065562	CT	C	T101065563G	NALCN	NM_052867.4(NALCN):c.4447-2del	coding	Pathogenic
13	101065628	GAA	G	A101065638G	NALCN	NM_052867.4(NALCN):c.4447-69_4447-68del	noncoding	Benign
13	101073583	CCATA	C	T101073586G	NALCN	NM_052867.4(NALCN):c.4194_4197del:p.Cys1398fs	noncoding	Pathogenic
13	101073687	G	GA	T101073697A	NALCN	NM_052867.4(NALCN):c.4104-19dup	noncoding	Benign/Likely_benign
13	101074339	C	CT	C101074345T	NALCN	NM_052867.4(NALCN):c.4103+170dup	noncoding	Benign
13	101074692	CAG	C	G101074712C	NALCN	NM_052867.4(NALCN):c.3955-50CT[9]	noncoding	Benign
13	101089916	GC	G	C101089918A	NALCN	NM_052867.4(NALCN):c.3319del:p.Ala1107fs	coding	Pathogenic
13	101100672	C	CTG	A101100673T	NALCN	NM_052867.4(NALCN):c.3162+111_3162+112insCA	noncoding	Benign
13	101100674	GT	G	T101100677C	NALCN	NM_052867.4(NALCN):c.3162+109del	noncoding	Benign
13	101103561	CGT	C	G101103578A	NALCN	NM_052867.4(NALCN):c.2890-240AC[8]	noncoding	Benign
13	101111231	G	GA	G101111241A	NALCN	NM_052867.4(NALCN):c.2193-14dup	noncoding	Benign
13	101145089	GA	G	A101145095C	NALCN	NM_052867.4(NALCN):c.1840-194del	noncoding	Benign
13	101191895	G	GA	T101191905A	NALCN	NM_052867.4(NALCN):c.1764+13dup	noncoding	Benign
13	101229665	ATTATT	A	T101229670A	NALCN	NM_052867.4(NALCN):c.1435-86_1435-82del	noncoding	Benign
13	101258570	A	AT	C101258575T	NALCN	NM_052867.4(NALCN):c.1138dup:p.Met380fs	coding	Pathogenic
13	101283760	T	TA	G101283773A	NALCN	NM_052867.4(NALCN):c.1134+161dup	noncoding	Benign
13	101345380	A	AGT	C101345389G	NALCN	NM_052867.4(NALCN):c.683_684dup:p.Cys229fs	coding	Pathogenic
13	101376516	A	AAAAAT	A101376546T	NALCN	NM_052867.4(NALCN):c.644+159ATTTT[6]	noncoding	Benign
13	101376516	AAAAAT	A	T101376541A	NALCN	NM_052867.4(NALCN):c.644+159ATTTT[4]	noncoding	Benign
13	101376582	GAACA	G	C101376585G	NALCN	NM_052867.4(NALCN):c.644+114_644+117del	noncoding	Benign
13	101378431	AAAAAT	A	A101378442G	NALCN	NM_052867.4(NALCN):c.375+124ATTTT[2]	noncoding	Benign
13	101378641	AG	A	G101378643A	NALCN	NM_052867.4(NALCN):c.303del:p.Tyr102fs	coding	Pathogenic
13	101378790	GAATAAGT	G	A101378791T	NALCN	NM_052867.4(NALCN):c.292-144_292-138del	noncoding	Benign
13	101378898	AT	A	T101378908C	NALCN	NM_052867.4(NALCN):c.292-246del	noncoding	Benign
13	101395505	A	AT	C101395506T	NALCN	NM_052867.4(NALCN):c.109-141_109-140insA	noncoding	Benign
13	101722654	T	TG	T101722661G	FGF14	NM_004115.4(FGF14):c.*176dup	noncoding	Benign/Likely_benign
13	101723268	A	AACAC	T101723289A	FGF14	NM_004115.4(FGF14):c.608-321GT[12]	noncoding	Benign
13	101723268	A	AAC	T101723289A	FGF14	NM_004115.4(FGF14):c.608-321GT[11]	noncoding	Benign
13	101726654	TC	T	C101726655T	FGF14	NM_004115.4(FGF14):c.564del:p.Thr190fs	coding	Pathogenic
13	101875278	A	AT	A101875280T	FGF14	NM_004115.4(FGF14):c.211dup:p.Ile71fs	coding	Pathogenic
13	102401210	TA	T	A102401225G	FGF14	NM_175929.3(FGF14):c.208+260del	noncoding	Benign
13	102401210	T	TA	G102401226A	FGF14	NM_175929.3(FGF14):c.208+260dup	noncoding	Benign
13	102402048	G	GAA	G102402062A	FGF14	NM_001321938.2(FGF14):c.-449_-448dup	noncoding	Benign
13	102402048	G	GA	G102402062A	FGF14	NM_001321938.2(FGF14):c.-448dup	noncoding	Benign
13	102614085	C	CT	C102614095T	TPP2	NM_001330588.2(TPP2):c.295-7dup	noncoding	Benign
13	102616436	TG	T	G102616438C	TPP2	NM_001330588.2(TPP2):c.433del:p.Ala145fs	coding	Pathogenic
13	102629621	GT	G	T102629625A	TPP2	NM_001330588.2(TPP2):c.1144+16del	noncoding	Benign
13	102643201	CTTCT	C	T102643211A	TPP2	NM_001330588.2(TPP2):c.2021-20TTCT[2]	noncoding	Benign
13	102645739	ACTATATTTAAAACTTACTCTTCAGTGTCAGTTTTCTCCTTTATAAAATCTGTACATTAGCAACTTCCTTCAGAGGACTACTAAAAATATGAAATAACATTCCCTCGGCCAGGAGGAGGGCTGAGTGTGGCCCCTGCCATCTGGTGAGCAGCAGGGGTCTGGGGAGGTCTGTGCTGCACACAACACAGTACTGTCAACAGTTTGCACAAGGGGTACAAATCAGAACCTGTCTTGCAACACTTTTAGTTGTCACCCTAGTGTTAGGATTTGGTTGTATTGAGAGCTGTTTGTTCACATTTGAAAATGTTTTTGCCATGAAAAGATTGCCTTTGTCATATTTATTGCAAAATCTAAACTGTATGTATTGATATGATTCAATCAAATAATTATGTAAGTTAGTGATTAAAATATTGTAGAGTATACTGAAAAGGATAGCTCTCAGGAAGGTTCATCTGCACTTTTTGCAATATGTTACAGATTTTGTTGCATATGGTTTTATTTGTCTCATTCAATGAACTCTTGAATCAAACCAGTTATGTAGTTTCCTCATTACAGCCCAGTGAGTGCAAAAACAAAACCTTTAGGATCAAGAGATGTTTTGCCAAATAACCGTCAACTTTATGAGATGGTCCTGACATATAACTTTCATCAAGTAAGTGTTTGCCTAGTAAAGTGTACCCTTAGGATGAACTTTTGTGTTTTATTTATGATTCATAGAATCAAAAATGGAAGGACAGTGTATATGGTATATATAAAAAACAGAATCAAGTGATTAACAGTTAATTTGGAATTACTCTTTAGGAAATTATAATTTGTAATTAAATACCATTCAGTTGTAAAGTCACAAAATGTAATTGAGTGGTGACCTAGCCTTAAGCCTTAGTTTATAAAATCACTGATCACTGTCCATTGGTGCCATCTGACCCAGGGGTGATTAGATGGCTCAGAAATACCATCTGCCTTCTGGTGATGGTGCTGGGCCTGATTGCTTTCTGCGAAGAAGGCACTGGAACAGGGAAAGGTCAGAGTAGCTCCCAGGTGGGATGGGTGGCAAAAGTAATGGAGGCCAGTGTAAATGCTGGACCAAAGAATTGTTGTAAGATCAATGAGATTTCAATAAAACTGTTACTGAAACACACATCAGTTTGGTTATAATGTTAGGGAAATGGATTGGTTTCAGTGAATTTTCACATTTCAGTTTTATAAAGTAATTAGAGGTCCTGAAGTATGTATATGTTGCTTTATTAATGAATACACATAGCCAGGTGTGTATTTTTAAAAGTTTGTAAGAGAGCAGTGACTTTTATAAGTGCTAAAATACTGTGTGTTCTATATTTTCAAAATTTTTTACCACAAGTATTTTTAATGTTTTTTAAATGAAAAAGTCTCATGTCAATAACAATATTAAAAATTTGTATCAGAAATTATATGCAAATCATGCCAAGTAATCTTTTTTGTTTTTTAATAGCCCAAGAGTGGGGAAGTAACTCCAAGCTGCCCACTACTTTGTGAACTATTATATGAATCTGAATTTGACAGCCAACTGTGGATTATTTTTGACCAGAACAAAAGACAGATGGGTTCAGGCGATGCCTATCCACATCAGGTATAAAATTGATGGTGATTTTTAGAATTAACGGAAGCTGTTTCCTGAACTAACAAAATCCTGGTTTCTTGTTATGGTAATGTTCATACTTTAAAAAAAACAAAAATTATAGCTTTGTGTTTAGTACTTTTGCAAACTGTGAGAGCCTGTTTGTTGTAGTCGGTGAAGAACAGATGGTGTCAACTATTTCACCATGTAGTTGTGCTGAATTAGAGGAGGACAAGGGTGAACCTTGCCCACACTGGCCAGCATAACTTTTGGTGTGTGGTGTTTCTCCTTCCTATACACTGATTCTACCTATCTGAAGGTAGAATCATCAAAGCATGCATCAAAGAGATGCGAGCCTCTTGAAATGATCCTAAGTCTGAGGGGGCTAAAGAGAGCACTGCAGCAGTGGCCGCATGTCTTCAGTTCATTTGTACTTTTAAATTTACTACCTCGTTGGACAACTCTGTAATGAGCACTTACTACATACCAGGCACTATGCTTTGTGCTGTTTTATTGAAGGGAAAAATCACATAATTTATAGACATTTTATCCCTTAGATATTACTGCAAAGAAATGAGATATTTCCTGTAATATGTATAATTTTATGTTGACAAATGAAAATAATTTATGGAGATTTTTTTCAATTAGTTGTTAAAGGAATGGTATCGATTTTCCTCAAAGCAAGTAGCAGTCACATCTCATTACAGACTGGCCTACTGCAGTGCTATTATTTTGGTTACTTTTTAAATCTCAGAAAAAGTGGCTGACACAGGATACAGCATCTCTTCCTCTTGAACCTGTTAAGTGGATAATAGATTTGTATCCCTTGATCTCTATTGGTTTCCTGTTTTTTTCCTGTCTGTAATAAAGGAGTGACATTTTGGTTGTAATTTGAAGATCAGCTGGGCATGGTGGCACATGCCTGTGATCCCGTCTACTCAGGAAGCTGAGGTGGGAGGATCGCTTGAGCCCTGGAGCTCTAGGCTATGGTGCACTATGATTGCACCAGTTAACAGCCACTGCACTTCAGCCTGGGCAACATAGTGAGTCCCCCTCTCTAAAAGGAAATAAGGATTACCAGTAGTCATAAGTTACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTGTCCTAGATATTCTATGGTGCCTCAATTTTGCTCATTTTTTTGGTAGTGTTTCTTATATGTCTCTGAGGGACCCATGAACTAGAAAATCACTGCTTTTGTCATTCTCAAGCAGACACTGAGTTTTGCTAAAAGTGTGGGAGTATTCTGTCGTTCTGGAAAGAATGAGGGCTTTGAAGTCAGACCTGACTTCAGCTCTCTTATACTTTACTCTGTGTGATGTTAGGCAAGTCACTTGATGTCCCTGATCCTGTCTGCTCACCAGCGTACTAGGGACTTTATGTGTTATATGAACGTCTGGATAGTTAGTTCCTTGCACTGTACCTCACATATTATGAACAAGTCTGTGAATGGTAACTTTCACTTTATCCTCTTTCAGTGATTTCCGTTGACTTGGTTAAACTTAACTTTTCCCAAATGTTGTTTTTCTTTTTCAGTATTCTTTGAAACTGGAGAAAGGAGATTATACAATTCGACTACAGATTCGCCATGAGCAAATCAGTGATTTGGAACGCCTTAAAGACCTTCCATTTATTGTTTCTCATAGATTGTCTAATACCTTGAGCTTAGATATTCATGAAAATCATAGTTTTGCACTTCTAGGGAAGAAGAAATCAAGCAATTTGACATTACCACCCAAATATAACCAGCCATTCTTTGTTACTTCCTTACCTGATGATAAGTAAGTGATAACATTGCTTATACTTACTGCCCATCGTATACACTGTAGTCCTTTTAATGTCAGTTTATGACATCTAGGCTAAATTTAGAGGATGTAGTCATTTTTTTTTTGGCTGAAGTATTTCTTCCTTTGATTTTTGAAGTCTTAGCTATGGGAATGAATTCAGTGTGGAATTGTTTTCATGTTTTTCCCCTTACTTGTCTTTGTGAAACTTTCTCTTTTGTTGCTTTTTTTCTCTTTGAATTCTCTTGTTTAGAATACCTAAAGGGGCAGGACCTGGATGCTATCTTGCAGGATCCTTAACATTGTCAAAGACTGAACTAGGAAAGAAAGCTGTAAGTATTAGTTTTTTAAACACTGAAATTACCTATTAAAAAATTTCATTTCTTTAAAGATAAGAATTAATTCCACATTTCAGAATGGATAAAAGAGAAGATATACTCTTGGGGAAAAAAATTTAATCCTTTTTTCCCAGGTTACTAGTGAAAGTCAGTTAATATTTAGTTGTCTTTTAAAATGTATGCTACTTTTGAAATATTTAGGCTTCTTTTTCACAAGCCTACAGTACTCAGGCCCTGAACCTGTCTTACCTCCTACGGCTAATACACTTGAACTTCCTGTGAAACATGTAAATACAAATCAAACTTGGCTTAAATACATGTGATATTTAAGATTAGAACATGTTATAGAAATTTAACCAATAAGATTGGTTGTCCATATAAGATTATGGACATAGGAATAAATCAGATTATCTTGGGGTGCTTTTAAAAAGTAGTCAGAACAATTACCCTAAAACATGTTTCTTCACACTTCTACAGACCTATCTCATTGGAATTTCACATGGTTAAGTAGGAAAATATGAGATGTTTCTTTTGGTATTGCCTTTTAATTTCAAAATGATGCTTTTTTTAGAAATATGTTTCTGGTTGTTGTACTTTAGACATATATGTTACAGTTTTATAAGTACCTACCTGTTTTTGTTTTTTCCTT	A	A102645744G	TPP2	NM_001330588.2(TPP2):c.2394-550_2952+659del	noncoding	Pathogenic
13	102648898	CT	C	T102648903C	TPP2	NM_001330588.2(TPP2):c.2629-4del	noncoding	Benign
13	102851835	A	AT	A102851845T	ERCC5	NM_000123.4(ERCC5):c.89-274dup	noncoding	Benign
13	102852163	GC	G	C102852165A	ERCC5	NM_000123.4(ERCC5):c.136del:p.His46fs	coding	Pathogenic
13	102852410	GAC	G	C102852414T	ERCC5	NM_000123.4(ERCC5):c.264+121_264+122del	noncoding	Benign
13	102854012	AT	A	T102854016G	ERCC5	NM_000123.4(ERCC5):c.380+144del	noncoding	Benign
13	102856297	G	GTA	G102856313A	ERCC5	NM_000123.4(ERCC5):c.528+186TA[8]	noncoding	Benign
13	102856297	G	GTATA	G102856313A	ERCC5	NM_000123.4(ERCC5):c.528+186TA[9]	noncoding	Benign
13	102865684	CA	C	A102865687G	ERCC5	NM_000123.4(ERCC5):c.1975del:p.Ser659fs	coding	Pathogenic
13	102866642	GC	G	C102866644T	ERCC5	NM_000123.4(ERCC5):c.2332del:p.Leu778fs	coding	Pathogenic
13	102866738	AT	A	T102866739G	ERCC5	NM_000123.4(ERCC5):c.2427del:p.Asp809fs	coding	Pathogenic/Likely_pathogenic
13	102868182	CTG	C	T102868185G	ERCC5	NM_000123.4(ERCC5):c.2606_2607del:p.Val869fs	coding	Pathogenic
13	102872293	CT	C	T102872294G	ERCC5	NM_000123.4(ERCC5):c.2775del:p.Gly926fs	coding	Pathogenic
13	108209093	GC	G	C108209095A	LIG4	NM_206937.2(LIG4):c.2175del:p.Trp725fs	coding	Pathogenic
13	108209518	ATCTTT	A	T108209521A	LIG4	NM_206937.2(LIG4):c.1746_1750del:p.Glu582fs	coding	Pathogenic
13	108209755	C	CGA	T108209765A	LIG4	NM_206937.2(LIG4):c.1512_1513dup:p.Arg505fs	coding	Pathogenic
13	108209793	AG	A	G108209798C	LIG4	NM_206937.2(LIG4):c.1475del:p.Pro492fs	coding	Pathogenic
13	108210018	T	TGCATC	A108210024G	LIG4	NM_206937.2(LIG4):c.1246_1250dup:p.Leu418fs	coding	Pathogenic
13	108210123	CAG	C	A108210126T	LIG4	NM_206937.2(LIG4):c.1144_1145del:p.Leu382fs	coding	Pathogenic/Likely_pathogenic
13	108210385	CCATTT	C	A108210387G	LIG4	NM_206937.2(LIG4):c.879_883del:p.Asn294fs	coding	Pathogenic/Likely_pathogenic
13	108210543	TAA	T	A108210545G	LIG4	NM_206937.2(LIG4):c.724_725del:p.Leu242fs	coding	Pathogenic
13	108210668	GCTGA	G	G108210671A	LIG4	NM_206937.2(LIG4):c.597_600del:p.Gln200fs	coding	Pathogenic
13	108211411	T	TA	G108211420A	LIG4	NM_206937.2(LIG4):c.-28-123dup	noncoding	Benign
13	110161666	C	CAG	T110161670G	COL4A1	NM_001845.6(COL4A1):c.4463-299_4463-298dup	noncoding	Benign
13	110163725	AG	A	G110163726T	COL4A1	NM_001845.6(COL4A1):c.4151-165del	noncoding	Benign
13	110164660	GT	G	T110164664C	COL4A1	NM_001845.6(COL4A1):c.4150+201del	noncoding	Benign
13	110169453	CAAGA	C	A110169467C	COL4A1	NM_001845.6(COL4A1):c.3876+160TCTT[3]	noncoding	Benign
13	110169497	A	AACACACACAC	T110169527C	COL4A1	NM_001845.6(COL4A1):c.3876+104GT[19]	noncoding	Benign
13	110169497	A	AACACACAC	T110169527C	COL4A1	NM_001845.6(COL4A1):c.3876+104GT[18]	noncoding	Benign
13	110169497	A	AACACAC	T110169527C	COL4A1	NM_001845.6(COL4A1):c.3876+104GT[17]	noncoding	Benign
13	110169497	A	AACAC	T110169527C	COL4A1	NM_001845.6(COL4A1):c.3876+104GT[16]	noncoding	Benign
13	110169497	A	AAC	T110169527C	COL4A1	NM_001845.6(COL4A1):c.3876+104GT[15]	noncoding	Benign
13	110173999	CT	C	T110174000C	COL4A1	NM_001845.6(COL4A1):c.3407-2del	coding	Pathogenic
13	110176663	AG	A	G110176665C	COL4A1	NM_001845.6(COL4A1):c.2930del:p.Pro977fs	coding	Pathogenic
13	110177902	TC	T	C110177906A	COL4A1	NM_001845.6(COL4A1):c.2655del:p.Thr886fs	coding	Pathogenic
13	110178715	G	GC	A110178717C	COL4A1	NM_001845.6(COL4A1):c.2458+207dup	noncoding	Benign
13	110178969	AG	A	G110178975C	COL4A1	NM_001845.6(COL4A1):c.2411del:p.Pro804fs	coding	Pathogenic
13	110181330	T	TAA	T110181334A	COL4A1	NM_001845.6(COL4A1):c.2153_2154dup:p.Asn719fs	coding	Pathogenic
13	110181404	CA	C	A110181416C	COL4A1	NM_001845.6(COL4A1):c.2096-16del	noncoding	Benign
13	110181404	C	CA	C110181417A	COL4A1	NM_001845.6(COL4A1):c.2096-27dup	noncoding	Benign/Likely_benign
13	110183236	GC	G	C110183238T	COL4A1	NM_001845.6(COL4A1):c.1937del:p.Gly646fs	coding	Pathogenic
13	110186307	CCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGG	C	T110186309C	COL4A1	NM_001845.6(COL4A1):c.1890_1897+77del	noncoding	Pathogenic
13	110187254	G	GC	A110187256C	COL4A1	NM_001845.6(COL4A1):c.1611dup:p.Arg538fs	coding	Pathogenic
13	110195134	CAG	C	A110195137T	COL4A1	NM_001845.6(COL4A1):c.1286-18_1286-17del	noncoding	Benign
13	110203610	AC	A	C110203611A	COL4A1	NM_001845.6(COL4A1):c.958-4del	noncoding	Benign
13	110203611	C	CA	G110203616A	COL4A1	NM_001845.6(COL4A1):c.958-5dup	noncoding	Benign
13	110203845	CTAAT	C	A110203848T	COL4A1	NM_001845.6(COL4A1):c.958-242_958-239del	noncoding	Benign
13	110206969	GA	G	A110206981C	COL4A1	NM_001845.6(COL4A1):c.781-79del	noncoding	Benign
13	110208749	CTA	C	T110208752C	COL4A1	NM_001845.6(COL4A1):c.693+98_693+99del	noncoding	Benign
13	110209160	AGT	A	T110209164A	COL4A1	NM_001845.6(COL4A1):c.651+230_651+231del	noncoding	Benign
13	110209273	T	TAAAG	T110209275A	COL4A1	NM_001845.6(COL4A1):c.651+118_651+119insTCTT	noncoding	Benign
13	110209300	T	TAC	G110209302C	COL4A1	NM_001845.6(COL4A1):c.651+91_651+92insTG	noncoding	Benign
13	110210484	G	GC	A110210485C	COL4A1	NM_001845.6(COL4A1):c.469-273_469-272insG	noncoding	Benign
13	110211834	AG	A	G110211835A	COL4A1	NM_001845.6(COL4A1):c.441+34del	noncoding	Benign
13	110212444	T	TG	C110212451G	COL4A1	NM_001845.6(COL4A1):c.359dup:p.Gly121fs	coding	Pathogenic
13	110212772	G	GCA	G110212777C	COL4A1	NM_001845.6(COL4A1):c.280-158TG[3]	noncoding	Benign
13	110242960	TC	T	C110242963A	COL4A1	NM_001845.6(COL4A1):c.85-227del	noncoding	Benign
13	110424640	C	CAAAAA	T110424652A	COL4A2	NM_001846.4(COL4A2):c.181-87_181-83dup	noncoding	Benign
13	110424640	C	CAAAA	T110424652A	COL4A2	NM_001846.4(COL4A2):c.181-86_181-83dup	noncoding	Benign
13	110424640	C	CA	T110424652A	COL4A2	NM_001846.4(COL4A2):c.181-83dup	noncoding	Benign
13	110424935	C	CA	T110424937A	COL4A2	NM_001846.4(COL4A2):c.316-17dup	noncoding	Benign
13	110425053	AT	A	T110425057G	COL4A2	NM_001846.4(COL4A2):c.360+60del	noncoding	Benign
13	110428178	TAGAC	T	A110428181T	COL4A2	NM_001846.4(COL4A2):c.361-286_361-283del	noncoding	Benign
13	110428913	C	CT	A110428917T	COL4A2	NM_001846.4(COL4A2):c.477+333dup	noncoding	Benign
13	110436125	GTTA	G	T110436130A	COL4A2	NM_001846.4(COL4A2):c.727-139_727-137del	noncoding	Benign
13	110438810	C	CCTCCA	A110438812T	COL4A2	NM_001846.4(COL4A2):c.912+143_912+144insTCCAC	noncoding	Benign
13	110438810	C	CCTCCACA	A110438812T	COL4A2	NM_001846.4(COL4A2):c.912+143_912+144insTCCACAC	noncoding	Benign
13	110446991	T	TA	T110447000A	COL4A2	NM_001846.4(COL4A2):c.1078+135dup	noncoding	Benign
13	110458880	AGG	A	G110458883A	COL4A2	NM_001846.4(COL4A2):c.1545_1546del:p.Asp516fs	coding	Pathogenic
13	110480014	T	TCAAC	T110480020A	COL4A2	NM_001846.4(COL4A2):c.2588-204_2588-201dup	noncoding	Benign
13	110495146	AC	A	C110495147T	COL4A2	NM_001846.4(COL4A2):c.3635-195del	noncoding	Benign
13	110503123	T	TATCGGGGCCC	C110503135T	COL4A2	NM_001846.4(COL4A2):c.3882_3891dup:p.Pro1298fs	coding	Pathogenic
13	110503976	G	GC	G110503984C	COL4A2	NM_001846.4(COL4A2):c.4275dup:p.Gly1426fs	coding	Pathogenic
13	110511744	CA	C	A110511745G	COL4A2	NM_001846.4(COL4A2):c.4882-189del	noncoding	Benign
13	110622269	AAT	A	T110622271C	NAXD	NM_001242882.2(NAXD):c.102_103del:p.Thr35fs	coding	Pathogenic
13	110624295	ATTTCT	A	T110624298A	NAXD	NM_001242882.2(NAXD):c.243+19_243+23del	noncoding	Benign
13	110634794	CT	C	T110634795G	NAXD	NM_001242882.2(NAXD):c.597+19del	noncoding	Benign
13	110641238	TG	T	G110641240C	CARS2	Single_allele	noncoding	Benign
13	110641336	A	AATCG	C110641342T	CARS2	Single_allele	noncoding	Benign
13	110642573	G	GC	T110642579C	CARS2	NM_024537.4(CARS2):c.1417-57dup	noncoding	Benign
13	110647516	C	CGGA	T110647517G	CARS2	NM_024537.4(CARS2):c.1055-278_1055-277insTCC	noncoding	Benign
13	110650998	TG	T	G110651006A	CARS2	NM_024537.4(CARS2):c.1054+35del	noncoding	Benign
13	110663525	CA	C	A110663530C	CARS2	NM_024537.4(CARS2):c.920-8del	noncoding	Benign
13	110676852	CA	C	A110676858T	CARS2	NM_024537.4(CARS2):c.785+121del	noncoding	Benign
13	110687678	CA	C	A110687691G	CARS2	NM_024537.4(CARS2):c.571+42del	noncoding	Benign
13	110687678	C	CA	G110687692A	CARS2	NM_024537.4(CARS2):c.571+30dup	noncoding	Benign
13	110688245	CT	C	T110688247C	CARS2	NM_024537.4(CARS2):c.394-228del	noncoding	Benign
13	110701666	C	CA	T110701669A	CARS2	NM_024537.4(CARS2):c.276-113dup	noncoding	Benign
13	112875935	A	AGTCCAGGT	A112875944G	ATP11A	NM_015205.3(ATP11A):c.3322_3327+2dup	coding	Pathogenic
13	113116835	TG	T	G113116841C	F7	NM_019616.4(F7):c.581del:p.Gly194fs	coding	Pathogenic
13	113117579	AC	A	C113117581T	F7	NM_019616.4(F7):c.724del:p.Asn241_Leu242insTer	coding	Pathogenic
13	113119162	C	CAA	G113119164A	F7	NM_019616.4(F7):c.*155_*156insAA	noncoding	Benign
13	113122508	A	ATGTGAT	G113122514T	F10	Single_allele	noncoding	Benign
13	113129397	G	GGGAGCCTGGGTGAAGA	G113129411A	F10	NM_000504.4(F10):c.71-42_71-41insAGAGGAGCCTGGGTGA	noncoding	Benign
13	113129541	GAA	G	A113129543G	F10	NM_000504.4(F10):c.162_163del:p.Glu56fs	coding	Pathogenic
13	113143857	AC	A	C113143861T	F10	NM_000504.4(F10):c.513del:p.Cys172fs	coding	Pathogenic
13	113735277	TCGGA	T	A113735281T	GRK1	NM_002929.3(GRK1):c.1610_1613del:p.Asp537fs	coding	Pathogenic/Likely_pathogenic
13	114324372	CAA	TTT	C114324372T	CHAMP1	NM_032436.4(CHAMP1):c.530_532delinsTTT:p.Ser177_Lys178delinsPheTer	coding	Pathogenic
13	114324488	G	GAGT	C114324492A	CHAMP1	NM_032436.4(CHAMP1):c.647_649dup:p.Ser217Ter	coding	Pathogenic
13	114324797	T	TC	T114324802C	CHAMP1	NM_032436.4(CHAMP1):c.959dup:p.Pro320_Arg321insTer	coding	Pathogenic
13	114325530	T	TC	A114325535C	CHAMP1	NM_032436.4(CHAMP1):c.1692dup:p.Lys565fs	coding	Pathogenic
13	114325582	TG	T	G114325583A	CHAMP1	NM_032436.4(CHAMP1):c.1741del:p.Glu581fs	coding	Pathogenic
13	114325713	AAG	A	A114325718C	CHAMP1	NM_032436.4(CHAMP1):c.1876_1877del:p.Ser626fs	coding	Pathogenic
13	114325833	A	AT	A114325838T	CHAMP1	NM_032436.4(CHAMP1):c.1995dup:p.Ser666Ter	coding	Pathogenic
14	20298836	AG	A	G20298839T	TTC5	NM_138376.3(TTC5):c.599del:p.Pro200fs	coding	Pathogenic
14	20447530	AAG	A	G20447536T	OSGEP	NM_017807.4(OSGEP):c.870-16CT[2]	noncoding	Benign
14	20447601	GAA	G	A20447603G	OSGEP	NM_017807.4(OSGEP):c.869+12_869+13del	noncoding	Benign
14	20452201	A	AG	T20452203G	OSGEP	NM_017807.4(OSGEP):c.236-53dup	noncoding	Benign
14	20472292	AT	A	T20472298C	PNP	NM_000270.4(PNP):c.12-10del	noncoding	Benign
14	20472467	CC	TT	C20472467T	PNP	NM_000270.4(PNP):c.171_172delinsTT:p.Arg58Ter	coding	Pathogenic
14	20474965	G	GT	A20474974T	PNP	NM_000270.4(PNP):c.461+25dup	noncoding	Benign
14	20475142	T	TG	A20475148G	PNP	NM_000270.4(PNP):c.547dup:p.Glu183fs	coding	Pathogenic
14	20476460	CA	C	A20476462G	PNP	NM_000270.4(PNP):c.731del:p.Lys244fs	coding	Pathogenic
14	21287987	T	TGGTGGACCCTACATCA	A21288006T	RPGRIP1	NM_020366.4(RPGRIP1):c.14_29dup:p.Asp11fs	coding	Pathogenic
14	21301028	C	CGG	C21301031G	RPGRIP1	NM_020366.4(RPGRIP1):c.282_283dup:p.Ala95fs	coding	Pathogenic
14	21302334	TA	T	A21302344C	RPGRIP1	NM_020366.4(RPGRIP1):c.491-144del	noncoding	Benign
14	21302854	TC	T	C21302856T	RPGRIP1	NM_020366.4(RPGRIP1):c.587+272del	noncoding	Benign
14	21303405	C	CT	A21303407T	RPGRIP1	NM_020366.4(RPGRIP1):c.663dup:p.Asn222Ter	coding	Pathogenic
14	21303413	GC	G	C21303416A	RPGRIP1	NM_020366.4(RPGRIP1):c.673del:p.His225fs	coding	Pathogenic/Likely_pathogenic
14	21303453	CA	C	A21303454C	RPGRIP1	NM_020366.4(RPGRIP1):c.711del:p.Lys239fs	coding	Pathogenic
14	21307736	CCATTAAAGAGAAGGTAGAG	C	A21307738T	RPGRIP1	NM_020366.4(RPGRIP1):c.808_826del:p.Ser269_Ile270insTer	coding	Pathogenic
14	21307827	AG	A	G21307828T	RPGRIP1	NM_020366.4(RPGRIP1):c.898del:p.Val300fs	coding	Pathogenic
14	21311545	CAATA	C	A21311566C	RPGRIP1	NM_020366.4(RPGRIP1):c.931-278AATA[5]	noncoding	Benign
14	21311822	AGAATCA	T	A21311822T	RPGRIP1	NM_020366.4(RPGRIP1):c.931-2_935delinsT	noncoding	Pathogenic
14	21312438	G	GGA	T21312446A	RPGRIP1	NM_020366.4(RPGRIP1):c.1089_1090dup:p.Val364fs	coding	Pathogenic
14	21320071	AG	A	G21320073A	RPGRIP1	NM_020366.4(RPGRIP1):c.1363del:p.Glu455fs	coding	Pathogenic
14	21321855	AGGAACTGGAG	A	G21321857C	RPGRIP1	NM_020366.4(RPGRIP1):c.1615_1624del:p.Glu539fs	coding	Pathogenic/Likely_pathogenic
14	21324878	CT	C	T21324879C	RPGRIP1	NM_020366.4(RPGRIP1):c.2024del:p.Leu675fs	coding	Pathogenic
14	21325318	CGAAA	C	A21325324C	RPGRIP1	NM_020366.4(RPGRIP1):c.2308_2311del:p.Lys770fs	coding	Pathogenic
14	21325903	CG	C	G21325904A	RPGRIP1	NM_020366.4(RPGRIP1):c.2441del:p.Arg814fs	coding	Pathogenic/Likely_pathogenic
14	21326071	T	TA	T21326072A	RPGRIP1	NM_020366.4(RPGRIP1):c.2608_2609insA:p.Leu870fs	coding	Pathogenic
14	21334640	G	GAA	G21334643A	RPGRIP1	NM_020366.4(RPGRIP1):c.3275_3276dup:p.Ala1093fs	coding	Pathogenic
14	21337181	GACAGTGATTTAGATCCCAGCTCTGCTACTTAACTAGATATACAGCTTTGAGAGAGTTTTTTAACCTCTATTAGGCCTTGTCTCCTTATCTGTAAAATGGTAGTATTAAGTATACCCATCTGATACTGATGTGGCAAGATTAAAATAAGGGTTTAATACAGTGCCCGAGACAAATTAAGCCCTAAATGATAGTGAGGATGAGTGTGATGATAATAGTAGTCTCATTTCTCTGACCTACTGGAGTTCTCAATGTTAAGCTTTTTTTTTTTTTTTTTGAGATAGAGTCTTGTTCTGTTGCCCAGGCTGGAGTGCGTGCAGTGGCGCAATCTCGGCTTACTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCACAGGCTCCCGAGTAGCTGGGACCACAGGTGTGTGTCACCACGACCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTTACAGGTATGAGCCACTGCGCCCGGCCTAGGTTAAGCATTTTTTTTTTTTTTTTTTTTTTTTTAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTAACTGCAACCTCCGCCTCCCGGGTTCAAGCGACTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGACACACGCTGTCACGTCCAGCTAATTTTTTTGTTTTGAGACCTAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGTGCGATATCGGCTCACTGCAACCTCCGCCCCCCAGGTTCAAGCAATTCTCCTGTCTCACCCTCCCGAGTAGCTGGGACTACAGGCGCACGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCTCCTGGCCTCCCTCTTCTTAACAGTTACTAATGAGGAGGGAGCAATCATTTTCATTTGCTCTATGGTCCCAGATTACTGTTTCTTTAGCAATAGTGAATATCGAGAACCTCAAAATTTTTTCTCTTATCGTGTCAATTTCAGGTGTCAGGAATTTCCTGACCCTTATGTATGCCAGGTAGTAAGTTTTGGCAGCCCTGCCCCCCAGCCAAATTAGGTGGCACATCTGAGCTAATAAGCCAAAGGGTGTTATCTGGCACTAATCCTTGCAGGGTTTCTGCCAGCAAGTTCAAATGAGTTGATATATATTTCAATGGTTAATATTACTAATTGCATACTTTCTTTGCTGTTCAGCCCCAATAAAATTACATAATGGAATTAGCTCATGTAAAGAAAGTATTCTGAATCCAACAAAAAATATTAGATTGAACCATATATTGTCATACTCATAGATAAAAAATGGTTGACAATTGTCAGTTCTGTATAGTCCAACCTAATATGAATGAATAAAACATCTGTGTGTACTTGGATCAAATTTTAATCTTATTCATCCTCCCATTTCACCATTGTTACCAGAATAAACTTGATGTAGTCTGCATGAATATGGACTTCTGATTATTGTCCCAGGATTATTAGCAAGTTTAAAAAATTTGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTACAAAAATACAAAAATTAGCCGGGCGTGATGACGGGTGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTATCTCAAAAAATTGTTTTGTTTTGTTTTTTTAACTAGGCAGGTGTGGTGGCTCACGCCTGTAATTCTAGCACTTTGGGAGGCCGAGGTGGGCTGATCATGAGGTCAGGAGATCGAGTCCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCGTGCTTGTAATCCTGGCTACTCGAAAGGCGGAGAAAGGAGAATGGTTTGAACCAAGGAGTCGGAGGTTGCAGTGAGCCGAGATGGTTCCCCTGCACTCCAGCCTGGTGACAGAGCGAAACTCGGTCTCAAAAAGAAAAAAAAGAAAAATAATTTTAGATGTACAGGAAGGTGCTATGTAATGTTTATTTAGTTTTACTCTTTTTTCTTCTTTTTTGGTAATGTTATGAAACATGTATTTTTCAATCAATAATGTTTTGGGGTTCTATCCATGTCGATATATTTAGCTTTTTATAGTTCCTTCGTCTTAACTGCTGATCGATATTGCATTAAAATAATACATGACCTTTCGTTTAGACAGAACTCTAATGGGTAATGATTGAGATTTCATACTGTGTGCCAAGTGCTTGATATTCATGACTCTCTCGGGCTTCACAGCAGCCTTATGAGTTATTCTTTCCTTCAAGTAATTATGAAGTGCCTGTTTTAGTAACTGCCGGGCTCTGTGGGCACAAAATGGTGGATAAGACAGACTTGGTCTCTTCTCTCTTGAATCTTACATACTACTGAGGGAAAATATGTACATCAGTGAGCAAATAAGTAAAGCAGATAGCTCTGAGATTCTAAGTACTATGAAGGAAATAAATAGGGCGATATAATAGCAATGCGAGGAGTTGAACTAGGATAGGTGTTGAGGAAAGATTTCTCTGAGGAGGGGACGTTTGAACTGAAATCTGAAGAACGAGAAGGGAAGAGCTACCCATGTACTGGGTAGACTGTACTCATCTCAGGCAAAGGAATTGGTAAGTGTAAAGGCCCTGAGGTAGGAAAGAGTTTGATTTACCTGAGGAGTGGGAAATCAAAAGAAAATTAAAGTTTCTCTTGCACACATGTATATTATTATTCCCCCACCCCCTTTCAAAGGAGGACAGTGAAGTCTAGGGAGAAGAGCTTGCTCAAGGGAATATTTAATACAGTTTTACTGAGTGTATACTGTGTGCCAGACATTATGCCAGGCATTGTGCCAGGCACTAGATACTCGGTAGAGACTTTAATGGGGCCGGGCGCAATGGCTCACGCCTGTAGTCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACTGAAAATATAAAAATTAGTCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCAGGAGAATCGCTTGAACCTGGGAGTCAGAGGTTGCAGTGAGCCGACGTCGCACCGTTGCACTCCAGCCTGGGCAACAGTGCTAGACTCCATCTCTAAATAAATAAATACAGATTCCCAGGAGCCACTCTAGACAGTCTGATATAACACAGAGGCTTTTATACATTTTTTATAGCAATCACTATGAGAAATACATTTCTGCAGTATCCAATACTCTTATAAAAGAACAAGTTTCAAGAAACCAGGCTTACTATTAACATTTGCCATGCATTCTCCTATTCCACTAGATAGTGTCTTATCCTGTCTATCCTATCCTATTGTTTCTTTTTTAAAAAGCTAGTGAAACCCGCTAATCTGACCCATCAAAGTGTCAAAAAAAAACCAGATTTTTCAAAACACTGTATAGTCAATAGTTTTCTTGATGTTTGGGAGAGTTGGATGTTATGGGAGGGTTATTAAGAGAAAAACATCAAATATCGTTTTTTTGTTTGTTTGTTTGTTTTTTGAGACCCAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACTGCAACCTCCACCTCCTAGGTTCAAGTGATTCTCATGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGCGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTCAACTGCCCGCCTCGGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCTCTGCACCCCGCCAAATATCTTCATTTTTAAGAAGCACCCCAGATGATTCTGATGCAGAATCATTGAGAGATCTTGCCTGCTGAATTTCTTAGGGGCAGGCACAGGAGCTCCACTTGCTTTCTAAGAGAAGAAAAGATGGGGTAAGAGCCGGTCTTTGGAGAAGTAAGGGCATTGGCCTGGCCAGCTAGTGAAAAGAAGCATACAGGAGGGCACTCACAGATAGAGGGGAGAGCGCTATGGCTGGTAGGGAACCATCCTGGATTGACTCATTACTGGTGTCACGATACTGACTTGCCTGCCACACTGTGGAAGGAGGAGACTTCTGTTGGCCTTGGTGTACTTCTGGAAACTTCCTCCTGGTATCCCTGATGCCAACATGGACACAGGGACAATTAAAAGAAAGGACAGGGTGATGGCAGCGACTGTGAAGTGGGATTGAAAATATTGGAGTTCCTGGCCAGGCGCGGCGGCTCACGACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACTAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGGGAACCCGGGAAGAAGAGCTTGCTGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACACTGTCTCAAAAAAAAAAAAAAAGACTGGAGTTCCTGTGGGAGGGCAGGGTGGTCTGGTGGCCTCCTCAGTGGCATGCACTTGAGTGGGCATGGGAAGCCCTGGGCAGCTCTTTGCTATAGTGGCTGAAGCAGCTACTGAATCTCCAGTATCAGTCAGGAGGTCTTTTAGGTCCTAACCTCAGGAAAATACTAGCTTGGTTTTCATGAAGAACACTGTGGCCAGTTGCAGTGGTTCATGCCTCTCATCTCAGCCACTTTGGGAGGCTGAGGTGGACAGATTGCTTGAGTCCAGGAGTTCTAGACCATCGTGGGCAACATAGCAAGACCATATCTCTATTAAAAAAATAAAAATAATTGTCCCTATGTGGTGGTGTACCTGTGGTCCTAGCTACTTGGGTGACTAAGGTGGGAAGACTGCTTGAGATCAGGATGTCAAAGCTGCAGTGAACCATGATCACACAACTGCCCTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTTGAGAAATAGCTGTTTAGAAATTTATTTATTTGTATATAATCATCGGGTACAAGCACAGTTTTGCTGCATTTATATATTCCACTGTGGTGAAGCCTGGAGCGACGCACATTGTTCCCACCAAGCAACCTCCCATCATCCACCCTCCCCGCCGCTCCGAATCAGACATTTTTTTTTATTCTTTCTATATGTGGAGATGACTGAGAAAGGCTGTCCTGGAGAAATGATCCACTGGACTGTGAGAGAGAAGAGCTGGGTTCTCTTTATAAATTTCCTATCAATTAACTATGGCAATTAAGTCAAGTTGTCTTTTGATGCCAGTTTTACCTATAAAAGGATTCTCAGGGAATAATATAGTAGATAGATTATACCTATGGTTGATTTCTAGAGAGTACCGTAATGGGTTAATTGGATGGCGTATAAGCACTTGGAGCCTCACTAACCTTTAGGAACTAAATAAACATTTTCCTTATCAGGATTCAGAGAAGATGTGCATTGAAATTGTCTCCCTGGCCTTCTACCCAGAGGCAGAAGTGATGTCTGATGAGAACATAAAACAGGTGTATGTGGAGTACAAATTCTACGACCTACCCTTGTCGGAGACAGAGACTCCAGTGTCCCTAAGGAAGCCTAGGGCAGGAGAAGAAATCCACTTTCACTTTAGCAAGGGTGAGGCATCCTGTGTGGTTACTGGGGTGAGGAAGTCTGATGAACATTGAGACTGAGGGTCAGAATTACTCTGGATTTTTGTGGGGTGAATCCAGCCATTTCACTTTATTATTTTATTGTTCAAAGTGTTGTGTGCATGTGGTTTAAAAACATCGAATGGGGCTAAACATTTTACATGAAGCAGGCCTTTGTCCCAGCTCTTCACAGATCACTTCGCCTGTTCCCACCCTTCCTCAATCCACGGCTTCCCACATTTCAGCTATATTTATTTTTACTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTAGAATGCAGTGGTGTGATCTTGGCTCACTGCCACCTCTGACTCCGAGATTCAAGCGATTCACGTGACTCAGCCTCCCAAGTAGCTGGGATTGCAGGTGTGCGCCACCGTGCCTGGCTAGTTTTTTGTGTTTTTAGTAGAGGCGGGGTTTCACCATTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCAAGCCCATCCTATCTCAGCCATTTCTTCTGTTATTTACTTCCATCATATTTCTGAGTATTGATTTTTGTTCTTCCTCTTTTCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGAACATGTTGCTCAGGCTGGTTTCAAACTCCTGGACTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGTGAGCCACCATACCTGGCTTCTGAGTAACATTTCTATTGCAATCTCCTGATTCACCGGCTTTAGACTTCCTATCTCGGACCTTAAAAGTTAGCTCTTTTGCACTACACTCATGTCCCTTTCCTTCCCATCGTAATTGTATCATAATTTTTATTTAAATCCATTTAAATTGGTTCTGTTATTATGGATATGTAAATATTAATTCTTGCAGAACCAAGTAGTATGCAATGATTATATTTCTTTACACGTATTTTTTGCAGCAATTTTTCATTCGCCTTATTTTCATTATACATATTGTAATTATTTTCGTGTCCTTCAACAGTCTTCCCAAATTTTGAAATAATCAAACCTGTCAAATTATCTACTCATCTATTTTTTTCCTGAAGACCTCTCTCCATCCTCTTGTTCTGCTCTAGCCCACTGTTTCATTATTACTGCTGCTCATGGAGAATACGATCAAATTCTCTCCTATACCAGATTTCTTATCTCCTGGTTATCCTCTAATTTATTTTCTTATTTTAATGGATCATATTTTCAGTAGTTTTTAAAGAAAGGGCATATCACAAGTGAAAATTTGAGAAAGTCGTGCATGAAATCTTTTTTTCCTACCCTCATATTTGATTCAAGTGTGGAAATCTTTTTCATTCAGAATTTCGAAGGAGCCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGCAGATTACTTGAGGTCAGAAGTTGGAGACCAGCCTGGCCAACGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGGGTGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACTTGGGAGATGGAGACTGCGGTGAACCAAGATCACGCCACTGCACTCTAGCCTGACACAGTAAGAATCTGTCACACACACACACACACAAATGAT	G	A21337182T	RPGRIP1	NM_020366.4(RPGRIP1):c.3339+2477_3533-151del	noncoding	Pathogenic
14	21345188	AT	A	T21345189C	RPGRIP1	NM_020366.4(RPGRIP1):c.3609del:p.Gln1204fs	coding	Pathogenic
14	21350883	A	AGAT	T21350884G	RPGRIP1	NM_020366.4(RPGRIP1):c.3749-221_3749-220insGAT	noncoding	Benign
14	21350885	TCTG	T	C21350886G	RPGRIP1	NM_020366.4(RPGRIP1):c.3749-218_3749-216del	noncoding	Benign
14	21385470	AT	A	T21385485C	CHD8	NM_001170629.2(CHD8):c.*142del	noncoding	Benign
14	21390768	CAA	C	A21390783C	CHD8	NM_001170629.2(CHD8):c.7182+177_7182+178del	noncoding	Benign
14	21390768	C	CA	C21390785A	CHD8	NM_001170629.2(CHD8):c.7182+163dup	noncoding	Benign
14	21390920	GA	G	A21390921G	CHD8	NM_001170629.2(CHD8):c.7182+26del	noncoding	Benign
14	21392974	G	GA	C21392990A	CHD8	NM_001170629.2(CHD8):c.6468+117dup	noncoding	Benign
14	21393792	TG	T	G21393795C	CHD8	NM_001170629.2(CHD8):c.6002del:p.Pro2001fs	coding	Pathogenic
14	21393843	C	CAGTGG	A21393852G	CHD8	NM_001170629.2(CHD8):c.5947_5951dup:p.Leu1985fs	coding	Pathogenic
14	21394050	AG	A	G21394052C	CHD8	NM_001170629.2(CHD8):c.5744del:p.Pro1915fs	coding	Pathogenic
14	21394147	GCT	G	T21394153C	CHD8	NM_001170629.2(CHD8):c.5646_5647del:p.Arg1882fs	coding	Pathogenic
14	21395882	CA	C	A21395885G	CHD8	NM_001170629.2(CHD8):c.5061del:p.Phe1687fs	coding	Pathogenic
14	21399997	CT	C	T21399998A	CHD8	NM_001170629.2(CHD8):c.4800del:p.Gly1602fs	coding	Pathogenic
14	21401546	C	CT	A21401557T	CHD8	NM_001170629.2(CHD8):c.4063-43dup	noncoding	Benign
14	21402421	TCTCTCTC	T	C21402422G	CHD8	NM_001170629.2(CHD8):c.3790_3796del:p.Glu1264fs	coding	Pathogenic
14	21403638	TTC	T	C21403640G	CHD8	NM_001170629.2(CHD8):c.3331_3332del:p.Glu1111fs	coding	Pathogenic
14	21406030	CCT	C	C21406033T	CHD8	NM_001170629.2(CHD8):c.2908-168_2908-167del	noncoding	Benign
14	21406918	CATCA	GAT	C21406918G	CHD8	NM_001170629.2(CHD8):c.2841_2845delinsATC:p.Asp948fs	coding	Pathogenic
14	21408573	G	GAA	T21408584A	CHD8	NM_001170629.2(CHD8):c.2487-28_2487-27dup	noncoding	Benign/Likely_benign
14	21408573	G	GA	T21408584A	CHD8	NM_001170629.2(CHD8):c.2487-28dup	noncoding	Benign
14	21408603	T	TA	T21408612A	CHD8	NM_001170629.2(CHD8):c.2487-56dup	noncoding	Benign
14	21415506	A	AAAAT	A21415546T	CHD8	NM_001170629.2(CHD8):c.1968+32ATTT[10]	noncoding	Benign
14	21415506	AAAATAAAT	A	T21415538A	CHD8	NM_001170629.2(CHD8):c.1968+32ATTT[7]	noncoding	Benign
14	21427993	GAACG	TTCCT	G21427993T	CHD8	NM_001170629.2(CHD8):c.1473_1477delinsAGGAA:p.Ser491_Val492delinsArgGly	coding	Pathogenic
14	22574780	AT	A	T22574784C	DAD1	NM_001344.4(DAD1):c.*44+278del	noncoding	Benign
14	22575540	CA	C	A22575545C	DAD1	NM_001344.4(DAD1):c.212-308del	noncoding	Benign
14	22772495	AAAAAAAAAAAAAAAAAAAAAAAAACAGTTTAAACTTCCAACCCATGCATGTGTTGTTCTATGCACATTTGGATTGCAGTCTAGAGGTGTGGCTGATAAGTTGAATGTTGAGATTGTATCTAAATATAGTAACCGCACTTCTTGATCCCAAGATTACTTTAAAAATTTCAAGAAGTAGATGTGTGCAAATTCTTAGTGATAATTAAGAATGAAAGTTCCAGGCTGGGCAAAGTGGCTCACACCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGTAGATCACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACATGGCGAGACCTTGTCTCTGCTAAAAAGTTAGCTGAGCATGGTGGTGCTTGTCCATAGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATAGCTTAAGCCCAGGAGGTTGAGGCTGCAGTGATCCAAGATCATGCTGCTATACTCCAGCCTTGGCTACAGAGCAAGATCCTGTCTCAAAAAGGAAGTTCATGTCATTTTTATGTAACAATCCAACATTTGACTAGAGCAGTTTAAGTGTTCTGTTGTCTGCCTTTGTGTAGAGCCTGGTTTATCAGCCTTCAGCAGCTAGCTTGAGAGAGAAAAGATGGATATACTTTCAAGCATAAGATTGATTTTAGTCTTTGTGTTTCTAGGCTAATGGGAGCTGTCCTAGAGATAGATACTATATAAAATGAAGCCACTCAGACTTTAGGAACATAAACTTTTATTGTCATCCAGCACCTGTGATAGTTTCATGTCTCTCTAAAGGAGACAGGAAATTGGAGCATTGTGGGCCCTTTTAAAAGAAAAGAGGAGTAGGTAGGCACACCCAGGTGCTTCTAAAACAACCAAGCCCAAACCTGACATGCTCCTCCCCACAGTCACCTTCATTGTCCCCTTTAAAAGTCTGGAACAGTATGTAGCAAAACAAATAAATTACTTTTCATTTCAAAAAGTAAGTTCAAAGGTTGAAGCTGCCTAGGCCAGGCTTCTGGACAGGTGCCTCCAAAGAAGTGAGCTTTCCTTTTCAACTTCCTTAGCTCTAGCCAGTAGACCAGAAACCCCTGCTTTCCACATCAGGATTCCAGATGGTGTTTAGTTAGATTTGGGATCCCGTTGCTTGGGCATCTCTCCTCCATCTTCCAAATCCATTTCTGCAGCAACTGACATACACAGGACCTGGAGGTACCTTGTGGCAGACCCTACAAAGAGAACTTTGAGTTGGAATTGAGAAGAGGTCAGCTGGGCTGAGTTCAAGTGTCACTGAATGGAACTCAGTGTGAGGGGAGTGATTCCACTAAGCCGAAGGGTTCATAAGAAGGGGCTAAGGCAAAGATGTCTTTGGAGGCTGGATTTACAGAAAAAGGCAAAAACCAAGCTCTGCAATAGCTGAGCGGACTTAAGGATGCACGGCTTACCCACGATCCTTCGGAGGTAAAGCGGTCGCTTATGTTCTGGCACTCTGATGATGAGGAAGTAAAAGGGCAGGCCTGAGAGGGCAATGGCAATGCCGATGAGGGAGTTGATAGTATCACTGTAAAGTGGAACAGCCACCAGGAAGATGGTGCAGAGGCAGAAGACAATCGGGAAGAAAACGCTGAGCTAAGGGCACAGGAAACATAACTGGAGTGGACAACTCAGGATTCTTAACAGCTAAAATAACCCCACCTCCCATAAGGATTAGCGCACTGAGCCTTCTTTCCATACCTTTAATTTCAACACATTACTAACGACCAAGTCCCAGGCAAAGGTTTCTAAATAAAGTGCTTTGTCATAGTCCCTTGTAGCAACAACTCCAGCTGTTTCAGGTGGAGCAGAGGTAGGATGGAGTTGCCTTACCTTGAGGGGACGAGGTCGATCAGGCTCCTTCCAGCGCAGATAAAGCTGACCCACAATAGAAAGCCCCACAAAGAACCAGTAGCTGAAGCTGTAGTAGTTAATGAGCTGGAAGATGTCTTCCACGCACAAGTAGATCAATGCCATGATACCCTGTAAGCGTGAGCCTAAGTCAGCTCTTCTCAGGGCCTTTGTTAATCCAAAGGCTTTTCACTCCCTTTATACCCCAGAAATCCATCCCCTGTCAATCCTCAAAGTCTCCTGGTCCTCTTCTGGTTTTAATCCCTTTAACACCCTAGTTTCAGTACCTTATCCCCTCTCTTATAAGTCAGTAGTCTCAACTGGCTTTTCAACCCATTCTTCAAGTTAACCCTGTATAAAGCAAGCTCGAAACAATCCCTCAAAAGTCTTGCATAGGACCCTTTCCATAATGGCTCCAACCTACAATAACCCGCTCTTATCTCCTCCTACATGTTGAGTATCCCTGTTCTGAAAATCCAAAATGCTCCAATGAGCATTTCCTTTGAGTGTCAAGTCAGCACTCAAAAAGTTTCAGATTTTTAGAGCATTTCAGATTTTGGATATTCAGATTAGGGATACTCAACCTGTATTAAAACCCATACTGCTTTATCACAGGATTTTCTGATGCTATTTCTCCTACCTAAAGCCCATCTCTACCATTTGCAACCCTAGCCATCAAGATGCACTTTTTTTTTCTGAGAACACTTTGGTGGATTTTAAGACACACACACACACTTCTAGATGTAATTCTTCACCCTCTACTCCCATGGAAGTGATCGTTTCTTCTCTTAAACACCGTATCACTCACTATCTGTCATGGCAATCAATCATTACAGTGTATTCCATGTACTTTTTGCCTTATCTTAGAGCAGAGGTGTACCATTCCTTAGAGCATTTGGATTTCCCCTGTAGCGGTTAGCATAGTGCCTTGCCCGTGGTGAACATTCTGATCCACCAATAGTTTTTCTATTGGAATCTTTCAGAGCTTTCAGGAAGCTAGAACAGTCGCTTCTGCTGTTACTAAAGTTTCCCCCGCAATCTGGCTTTCAGTCTCATCCTTGAGTTCACTTACATTGAAGAGCAGAGAAGGCACTGGTGTGAACCGCTCAACATGGATCATGCAGATGGCATCAGGGAGATGGCCTTCTCTTGAGCCCACAAAGAAAAGCCTATGTTAGGTAAGATAGGAGAAGCTGAGAAAATTGGTGGACACGGTGCAGCCTGGTTCACCTGCCACATGGCCCTCCCTCTCTGCCATCCCTTCCTTCAAAAGTATTTGGATAATATGGACTGGAGCTCAGTATTAAGATTAATGACAACTGCAGGCTTCTGCTAGAAACAAGAAGAAAGAGGTTGTGGTATCGGTTGGAGAACACAAGTAATCAAAGGCTGGGTCCTGTAAGTTCTGTCCACTGCATAGCCCTTTGATGATACACCCCTCACAAAAGTTGCCACTCTTACCTAGAAGCAGCCACAATGGAGGCATTGAGGCCACCAAAACAGGATAATGCAACTGACAGTGGAATTATCCAGTTAAATATTCCAAATATCTGATCTGCAAAAGTCTAAGGGAAAAGAATGGAAGAGTCATTAGCAGGATCTAAAAGGGATGAAAGACATGGATGGGCATGCCCCCAGATTCCCCTTATTAGGTATTCCAACCTTTCTTCCACAGTGGGGTTAACAGGACCTTCTTGCAAGCCCGGTATTCTAAATGAACTCCTTTCAAGGCTGTCTACCCCCTTTCCAGGACTTTCAAGAGCCAGAATATACCCAGTACCCCACAAGACACCCTCAACCTTCTGCTAGTGAAAATCCTTTACCACAGCAACAGCATCACTGGCCAAGATGTCTCTCATGTCTAGCACAGTATAATAGGCCACATTGGTCAAGATATAGATGATGGTGACAATGGGCATGGAGATGCCAATGGAGAGGGGCAGGTTCCTACAGCCAAATAGAATAAAATGCACATTAGTCCCACAGTCATATCCCTATCTCTCCTTTAATCCTTAGACTCTCCCTGCCACACCGGTCTTTCCAGGGATGGAGACTGTTGCTACATTTCCTCAATGCATTTGTCTTTGACGGTGCCCTGGATAGTGGCTGAAGCTCTGAACACTTAAGAACTAAAGAACATTAGGGGAAAGGAATATCATATTAGGAGACAGGACTGTGCAGCTGGGAGCAGTGGCTCATGCCTGTAGTACTAACACTTTGGGAGGCTGAGGCAGGGAGATGGCTCGAGTCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAAAACTAGCCAAGCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTTCCTACTAAAAATATAAATAATTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTACGAGAATCACTTGAACTCGAGAGGCGGAGGTTGTGGTAAGCCAAAATTGTGCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCTGTCTCCAAAAACAAACCAAAAAAAAAAAAATTAGCCAAGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGGAGGTCAAGGCTGCAGTGAACCATGACTGGGCCACTGCACTCCAGCCTGGGCAAGGCAGCCAGACCCTGTCT	A	C22772520G	SLC7A7	NG_012851.2:g.57679_62325del	noncoding	Pathogenic
14	22773961	CT	C	T22773963A	SLC7A7	NM_003982.4(SLC7A7):c.1400del:p.Lys467fs	coding	Pathogenic
14	22774053	AAAGTGGAACAGCCACC	A	A22774055G	SLC7A7	NM_003982.4(SLC7A7):c.1293_1308del:p.Val432fs	coding	Pathogenic
14	22774092	AGACAATC	A	A22774094G	SLC7A7	NM_003982.4(SLC7A7):c.1263_1269del:p.Ile422fs	coding	Pathogenic
14	22774110	CGCTGA	C	G22774114A	SLC7A7	NC_000014.8:g.23243320_23243324del	coding	Pathogenic
14	22774135	TAACTG	T	A22774136G	SLC7A7	NM_003982.4(SLC7A7):c.1246-24_1246-20del	noncoding	Benign
14	22774447	G	GTAGTT	A22774453T	SLC7A7	NM_003982.4(SLC7A7):c.1147_1151dup:p.Tyr384Ter	coding	Pathogenic
14	22775228	CCTTAT	C	T22775233G	SLC7A7	NM_003982.4(SLC7A7):c.1095+211_1095+215del	noncoding	Benign
14	22775258	TTAGAG	T	T22775259C	SLC7A7	NM_003982.4(SLC7A7):c.1095+181_1095+185del	noncoding	Benign
14	22775881	GC	G	C22775882A	SLC7A7	NM_003982.4(SLC7A7):c.949del:p.Ala317fs	coding	Pathogenic
14	22776199	G	GC	A22776201C	SLC7A7	NM_003982.4(SLC7A7):c.889dup:p.Ala297fs	coding	Pathogenic
14	22778577	T	TA	T22778583A	SLC7A7	NM_003982.4(SLC7A7):c.770+211dup	noncoding	Benign
14	22778791	AC	A	C22778793T	SLC7A7	NM_003982.4(SLC7A7):c.770+1del	noncoding	Pathogenic
14	22778861	TG	T	G22778862A	SLC7A7	NM_003982.4(SLC7A7):c.701del:p.Tyr233_Ser234insTer	coding	Pathogenic
14	22778924	A	ATGAG	A22778930G	SLC7A7	NM_003982.4(SLC7A7):c.635_638dup:p.Phe214fs	coding	Pathogenic
14	22779941	CAA	C	A22779942T	SLC7A7	NM_003982.4(SLC7A7):c.608_609del:p.Ile203fs	coding	Pathogenic
14	22780005	C	CA	G22780007A	SLC7A7	NM_003982.4(SLC7A7):c.545dup:p.Val183fs	coding	Pathogenic
14	22780011	TC	T	C22780015A	SLC7A7	NM_003982.4(SLC7A7):c.539del:p.Gly180fs	coding	Pathogenic
14	22780199	CG	C	G22780203C	SLC7A7	NM_003982.4(SLC7A7):c.500-149del	noncoding	Benign
14	22812639	TAA	T	A22812656T	SLC7A7	NM_003982.4(SLC7A7):c.499+259_499+260del	noncoding	Benign
14	22812639	TA	T	A22812657T	SLC7A7	NM_003982.4(SLC7A7):c.499+260del	noncoding	Benign
14	22812773	C	CTA	G22812793A	SLC7A7	NM_003982.4(SLC7A7):c.499+109TA[10]	noncoding	Benign
14	22812773	C	CTATA	G22812793A	SLC7A7	NM_003982.4(SLC7A7):c.499+109TA[11]	noncoding	Benign
14	22812773	CTATA	C	A22812789G	SLC7A7	NM_003982.4(SLC7A7):c.499+109TA[7]	noncoding	Benign
14	22812964	CTGTACCATG	C	G22812966A	SLC7A7	NM_003982.4(SLC7A7):c.426_434del:p.Tyr142_Gln145delinsTer	coding	Pathogenic
14	22813021	GA	G	A22813022T	SLC7A7	NM_003982.4(SLC7A7):c.377del:p.Ile126fs	coding	Pathogenic/Likely_pathogenic
14	22813027	CA	C	A22813028G	SLC7A7	NM_003982.4(SLC7A7):c.371del:p.Leu124fs	coding	Pathogenic
14	22813105	C	CT	A22813108T	SLC7A7	NM_003982.4(SLC7A7):c.293dup:p.Lys99fs	coding	Pathogenic
14	22813269	ACACG	A	A22813271C	SLC7A7	NM_003982.4(SLC7A7):c.126_129del:p.Val43fs	coding	Pathogenic
14	22836432	G	GT	C22836447T	MMP14	Single_allele	noncoding	Benign
14	22837127	TGC	T	G22837128C	MMP14	NM_004995.4(MMP14):c.108+203_108+204del	noncoding	Benign
14	22841833	CT	C	T22841835A	MMP14	NM_004995.4(MMP14):c.258-78del	noncoding	Benign
14	22844196	CA	C	A22844208G	MMP14	NM_004995.4(MMP14):c.1012-163del	noncoding	Benign
14	23101851	CAGA	C	A23101857T	CIROP	NM_001354640.2(CIROP):c.1364TCT[1]:p.Phe456del	noncoding	Pathogenic
14	23117585	CGCGGCT	C	C23117590A	CEBPE	NM_001805.4(CEBPE):c.742_747del:p.Ser248_Arg249del	coding	Pathogenic
14	23117667	TCGGCTCTTGCG	T	G23117669A	CEBPE	NM_001805.4(CEBPE):c.655_665del:p.Lys220fs	coding	Pathogenic
14	23118582	C	CT	G23118585T	CEBPE	NM_001805.4(CEBPE):c.509dup:p.Ala171fs	coding	Pathogenic
14	23118838	GGGTCA	G	T23118841C	CEBPE	NM_001805.4(CEBPE):c.249_253del:p.Asp84fs	coding	Pathogenic
14	23118890	C	CT	C23118892T	CEBPE	NM_001805.4(CEBPE):c.201dup:p.Gly68fs	coding	Pathogenic
14	23119073	A	AGTAGGTC	C23119081G	CEBPE	NM_001805.4(CEBPE):c.12_18dup:p.Tyr7fs	coding	Pathogenic
14	23319887	C	CTT	G23319890T	PABPN1	NM_001199864.3(BCL2L2-PABPN1):c.433-2293_433-2292dup	noncoding	Benign
14	23320430	A	AG	A23320436G	PABPN1	NM_001199864.3(BCL2L2-PABPN1):c.433-1746dup	coding	Benign
14	23321471	T	TGGC	A23321493G	PABPN1	NM_004643.4(PABPN1):c.3GGC[8]:p.Ala11dup	coding	Pathogenic
14	23321471	T	TGGCGGCGGCGGCGGC	A23321493G	PABPN1	NM_004643.4(PABPN1):c.3GGC[12]:p.Ala7_Ala11dup	coding	Pathogenic
14	23321478	G	GGCGGCGGCGGCGGCA	A23321496G	PABPN1	NM_004643.4(PABPN1):c.12_26dup:p.Ala7_Ala11dup	coding	Pathogenic
14	23321487	G	GGCGGCAGCAGCAGCGGGGGCT	G23321513C	PABPN1	NM_004643.4(PABPN1):c.23_43dup:p.Ala8_Ala14dup	coding	Pathogenic
14	23321490	G	GGCA	G23321502A	PABPN1	NM_004643.4(PABPN1):c.24AGC[4]:p.Ala11dup	coding	Pathogenic
14	23321490	G	GGCAGCA	G23321502A	PABPN1	NM_004643.4(PABPN1):c.24AGC[5]:p.Ala10_Ala11dup	coding	Pathogenic
14	23321906	C	CG	T23321913G	PABPN1	NM_004643.4(PABPN1):c.351+92dup	noncoding	Benign
14	23325042	C	CAA	G23325044A	PABPN1	NM_004643.4(PABPN1):c.882-204_882-203insAA	noncoding	Benign
14	23386303	GC	G	C23386308A	MYH6	NM_002471.4(MYH6):c.4959+11del	noncoding	Benign
14	23389064	GGG	C	G23389064C	MYH6	NM_002471.4(MYH6):c.3979-11_3979-9delinsG	noncoding	Benign/Likely_benign
14	23413566	CAAA	C	A23413583G	MYH7	NM_000257.4(MYH7):c.5790+190_5790+192del	noncoding	Benign
14	23413566	CAA	C	A23413584G	MYH7	NM_000257.4(MYH7):c.5790+191_5790+192del	noncoding	Benign
14	23414104	T	TG	C23414110G	MYH7	NM_000257.4(MYH7):c.5560-7dup	noncoding	Benign/Likely_benign
14	23415369	TG	T	G23415374A	MYH7	NM_000257.4(MYH7):c.5283+11del	noncoding	Benign
14	23415583	GC	G	C23415587A	MYH7	NM_000257.4(MYH7):c.5157+45del	noncoding	Benign
14	23416865	CA	C	A23416866C	MYH7	NM_000257.4(MYH7):c.4644+2del	noncoding	Benign
14	23416866	AC	A	C23416868T	MYH7	NM_000257.4(MYH7):c.4644+1del	noncoding	Benign
14	23417484	GC	G	C23417489A	MYH7	NM_000257.4(MYH7):c.4353+18del	noncoding	Benign
14	23419801	GT	G	T23419802G	MYH7	NM_000257.4(MYH7):c.3726+43del	noncoding	Benign
14	23420236	TG	T	G23420238T	MYH7	NM_000257.4(MYH7):c.3337-3del	noncoding	Benign
14	23420238	GT	G	T23420239C	MYH7	NM_000257.4(MYH7):c.3337-5del	noncoding	Benign
14	23429675	CAA	C	A23429690G	MYH7	NM_000257.4(MYH7):c.1138+98_1138+99del	noncoding	Benign
14	23429675	CA	C	A23429691G	MYH7	NM_000257.4(MYH7):c.1138+99del	noncoding	Benign
14	23430670	GA	G	A23430676C	MYH7	NM_000257.4(MYH7):c.896-8del	noncoding	Benign
14	23431015	GAGA	G	A23431021G	MYH7	NM_000257.4(MYH7):c.797-19_797-17del	noncoding	Benign/Likely_benign
14	24082500	TC	T	C24082503T	NRL	NM_001354768.3(NRL):c.348del:p.Ser117fs	coding	Pathogenic
14	24082824	CCAGG	C	C24082825G	NRL	NM_001354768.3(NRL):c.21_24del:p.Leu8fs	coding	Pathogenic
14	24082833	T	TG	C24082840G	NRL	NM_001354768.3(NRL):c.15dup:p.Ser6fs	coding	Pathogenic
14	24098386	G	GGCTGTGGATGAGA	G24098388C	PCK2	NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG:p.Gly154fs	coding	Pathogenic
14	24148423	T	TC	T24148426C	RNF31	NM_017999.5(RNF31):c.495+12dup	coding	Benign
14	24152002	TC	T	C24152006A	RNF31	NM_017999.5(RNF31):c.2130+14del	noncoding	Benign
14	24158029	GAGA	G	A24158036C	RNF31	NM_017999.5(RNF31):c.2841+19AGA[2]	noncoding	Benign
14	24177753	CCA	C	C24177754G	REC8	NM_001048205.2(REC8):c.860_861del:p.Pro287fs	coding	Pathogenic
14	24240421	C	CT	G24240426T	TINF2	NM_001099274.3(TINF2):c.1058dup:p.Glu354fs	coding	Pathogenic
14	24240631	G	GGGGC	C24240637G	TINF2	NM_001099274.3(TINF2):c.845_848dup:p.Thr284fs	coding	Pathogenic
14	24241328	T	TAGG	T24241332A	TINF2	NM_001099274.3(TINF2):c.400-20_400-18dup	noncoding	Benign
14	24249173	TCTCCGGGAGCCCTGGACTCCCC	T	C24249196A	TGM1	NM_000359.3(TGM1):c.*96GGGGAGTCCAGGGCTCCCGGAG[1]	noncoding	Benign
14	24249541	C	CCT	G24249544C	TGM1	NM_000359.3(TGM1):c.2226-2_2226-1dup	coding	Pathogenic
14	24254262	CT	C	T24254263G	TGM1	NM_000359.3(TGM1):c.2114del:p.Gln705fs	coding	Pathogenic
14	24254803	A	ACT	G24254806C	TGM1	NM_000359.3(TGM1):c.1947_1948dup:p.Val650fs	coding	Pathogenic
14	24255021	AC	A	C24255023A	TGM1	NM_000359.3(TGM1):c.1877del:p.Gly626fs	coding	Pathogenic
14	24255177	G	GC	G24255182C	TGM1	NM_000359.3(TGM1):c.1721dup:p.Ser575fs	coding	Pathogenic
14	24255456	AC	A	C24255457A	TGM1	NM_000359.3(TGM1):c.1552del:p.Val518fs	coding	Pathogenic
14	24255521	T	TG	T24255528G	TGM1	NM_000359.3(TGM1):c.1492-5dup	noncoding	Benign
14	24255528	T	TG	T24255534G	TGM1	NM_000359.3(TGM1):c.1492-12dup	noncoding	Benign
14	24258342	GCAGATCCGGC	G	A24258344T	TGM1	NM_000359.3(TGM1):c.1335_1344del:p.Arg445fs	coding	Pathogenic
14	24258535	CA	C	A24258536G	TGM1	NM_000359.3(TGM1):c.1297del:p.Trp433fs	coding	Pathogenic
14	24258673	ACT	A	C24258674G	TGM1	NM_000359.3(TGM1):c.1160-2_1160-1del	coding	Pathogenic/Likely_pathogenic
14	24259140	TAGCTA	T	T24259144A	TGM1	NM_000359.3(TGM1):c.1089_1093del:p.Ser364fs	coding	Pathogenic
14	24259755	T	TG	C24259758G	TGM1	NM_000359.3(TGM1):c.932dup:p.Tyr312fs	coding	Pathogenic
14	24259797	CA	C	A24259798C	TGM1	NM_000359.3(TGM1):c.890del:p.Val297fs	coding	Pathogenic
14	24260016	T	TA	C24260018A	TGM1	NM_000359.3(TGM1):c.799dup:p.Tyr267fs	coding	Pathogenic
14	24260466	GAA	G	A24260467G	TGM1	NM_000359.3(TGM1):c.739_740del:p.Phe247fs	coding	Pathogenic
14	24260532	GC	AG	G24260532A	TGM1	NM_000359.3(TGM1):c.674_675delinsCT:p.Arg225Pro	coding	Pathogenic
14	24260592	CA	C	A24260593G	TGM1	NM_000359.3(TGM1):c.614del:p.Leu205fs	coding	Pathogenic
14	24261747	GA	G	A24261748G	TGM1	NM_000359.3(TGM1):c.455del:p.Leu152fs	coding	Pathogenic
14	24261791	C	CGTCG	T24261796G	TGM1	NM_000359.3(TGM1):c.408_411dup:p.Glu138fs	coding	Pathogenic
14	24261804	C	CTCGT	C24261809T	TGM1	NM_000359.3(TGM1):c.395_398dup:p.Tyr134fs	coding	Pathogenic
14	24261875	GC	G	C24261876A	TGM1	NM_000359.3(TGM1):c.327del:p.Met109fs	coding	Pathogenic
14	24262156	G	GAC	G24262158C	TGM1	NM_000359.3(TGM1):c.196_197insGT:p.Ser66fs	coding	Pathogenic
14	28766942	C	CA	G28766943A	FOXG1	NM_005249.5(FOXG1):c.-338_-337insA	noncoding	Benign
14	28767473	CGCCGCCGCCGCCGCAGCAGCAGCA	C	A28767488C	FOXG1	NM_005249.5(FOXG1):c.209_232del:p.Gln70_Pro77del	coding	Benign
14	28767485	C	CGCA	C28767500A	FOXG1	NM_005249.5(FOXG1):c.209AGC[5]:p.Gln73dup	coding	Benign
14	28767499	C	CCG	C28767503G	FOXG1	NM_005249.5(FOXG1):c.222_223dup:p.Pro75fs	coding	Pathogenic
14	28767519	GGCACCGCAGCCCCCCCAGAC	G	A28767522G	FOXG1	NM_005249.5(FOXG1):c.243_262del:p.Pro82fs	coding	Pathogenic
14	28767634	GC	G	C28767635T	FOXG1	NM_005249.5(FOXG1):c.356del:p.Ala119fs	coding	Pathogenic
14	28767663	CG	C	G28767664A	FOXG1	NM_005249.5(FOXG1):c.385del:p.Glu129fs	coding	Pathogenic
14	28767761	A	AG	C28767765G	FOXG1	NM_005249.5(FOXG1):c.485dup:p.Gly163fs	coding	Pathogenic
14	28767774	CG	C	G28767778A	FOXG1	NM_005249.5(FOXG1):c.499del:p.Glu167fs	coding	Pathogenic
14	28767790	G	GA	G28767792A	FOXG1	NM_005249.5(FOXG1):c.512dup:p.Glu173fs	coding	Pathogenic
14	28767869	GCCC	G	C28767871G	FOXG1	NM_005249.5(FOXG1):c.592_594del:p.Pro198del	coding	Pathogenic
14	28767887	CGCTCAACG	C	T28767890A	FOXG1	NM_005249.5(FOXG1):c.611_618del:p.Leu204fs	coding	Pathogenic
14	28767912	CA	C	A28767913T	FOXG1	NM_005249.5(FOXG1):c.634del:p.Ile211_Met212insTer	coding	Pathogenic
14	28767968	G	GCCACAATC	T28767977C	FOXG1	NM_005249.5(FOXG1):c.690_697dup:p.Leu233fs	coding	Pathogenic
14	28768013	AC	A	C28768014T	FOXG1	NM_005249.5(FOXG1):c.735del:p.Tyr246fs	coding	Pathogenic
14	28768071	GTTCATCGGCGGCACCA	G	T28768072C	FOXG1	NM_005249.5(FOXG1):c.793_808del:p.Phe265fs	coding	Pathogenic
14	28768119	GC	G	C28768120G	FOXG1	NM_005249.5(FOXG1):c.841del:p.Arg281fs	coding	Pathogenic
14	28768221	G	GTCCCTGC	A28768229T	FOXG1	NM_005249.5(FOXG1):c.943_949dup:p.His317fs	coding	Pathogenic
14	28768250	C	CT	G28768254T	FOXG1	NM_005249.5(FOXG1):c.974dup:p.Leu325fs	coding	Pathogenic
14	28768371	GGACCGGCTGGTCAACGGGGA	G	C28768374T	FOXG1	NM_005249.5(FOXG1):c.1095_1114del:p.Arg366fs	coding	Pathogenic
14	28768418	CG	C	G28768420C	FOXG1	NM_005249.5(FOXG1):c.1141del:p.Ala381fs	coding	Pathogenic
14	28768618	G	GC	T28768624C	FOXG1	NM_005249.5(FOXG1):c.1344dup:p.Ser449fs	coding	Pathogenic
14	28768688	GA	G	A28768689C	FOXG1	NM_005249.5(FOXG1):c.1410del:p.Leu471fs	coding	Pathogenic
14	28768841	GC	G	C28768849T	FOXG1	NM_005249.5(FOXG1):c.*100del	noncoding	Benign
14	30877805	CT	C	T30877808C	COCH	NM_004086.3(COCH):c.239+80del	noncoding	Benign
14	30879480	CA	C	A30879482C	COCH	NM_004086.3(COCH):c.433del:p.Thr145fs	coding	Pathogenic
14	30886347	G	GA	C30886354A	COCH	NM_004086.3(COCH):c.1477+41dup	noncoding	Benign
14	30889414	G	GAGTT	T30889419A	COCH	NM_004086.3(COCH):c.1478-201_1478-198dup	coding	Benign
14	31066294	CAG	C	G31066296A	AP4S1	NM_001128126.3(AP4S1):c.100_101del:p.Glu34fs	coding	Pathogenic
14	31069849	TTCATTGAATATAAGGATTTTAA	T	T31069850G	AP4S1	NM_001128126.3(AP4S1):c.146_167del:p.Phe49fs	coding	Pathogenic
14	31072670	C	CA	T31072679A	AP4S1	NM_001128126.3(AP4S1):c.226-227dup	noncoding	Benign
14	31073185	GA	G	A31073200C	AP4S1	NM_001128126.3(AP4S1):c.294+227del	noncoding	Benign
14	31073185	G	GA	C31073201A	AP4S1	NM_001128126.3(AP4S1):c.294+227dup	noncoding	Benign
14	31084758	G	GT	A31084767T	AP4S1	NM_001128126.3(AP4S1):c.306+4182dup	noncoding	Benign/Likely_benign
14	31561083	GT	G	T31561084C	NUBPL	Single_allele	noncoding	Benign
14	31564718	AT	A	T31564721G	NUBPL	NM_025152.3(NUBPL):c.257-293del	noncoding	Benign
14	31673279	GA	G	A31673288C	NUBPL	NM_025152.3(NUBPL):c.383-67del	noncoding	Benign
14	31673338	A	AT	C31673351T	NUBPL	NM_025152.3(NUBPL):c.383-5dup	noncoding	Benign
14	31673338	A	ATT	C31673351T	NUBPL	NM_025152.3(NUBPL):c.383-6_383-5dup	noncoding	Benign
14	31673338	AT	A	T31673350C	NUBPL	NM_025152.3(NUBPL):c.383-5del	noncoding	Benign
14	31826855	TTAA	T	T31826856A	NUBPL	NM_025152.3(NUBPL):c.693+142_693+144del	noncoding	Benign
14	31846262	AT	A	T31846265A	NUBPL	NM_025152.3(NUBPL):c.694-206del	noncoding	Benign
14	34713142	G	GA	T34713155A	CFL2	NM_138638.5(CFL2):c.312-18dup	noncoding	Benign
14	34713200	GATA	G	A34713209C	CFL2	NM_138638.5(CFL2):c.311+45TAT[2]	noncoding	Benign
14	34713461	GCTTT	G	T34713468C	CFL2	NM_138638.5(CFL2):c.100_103del:p.Lys34fs	coding	Pathogenic
14	34714836	C	CG	C34714845G	CFL2	Single_allele	noncoding	Benign
14	34714910	CA	C	A34714912G	CFL2	Single_allele	noncoding	Benign
14	35001175	C	CT	G35001193T	SRP54	NM_003136.4(SRP54):c.255+172dup	noncoding	Benign
14	35001175	C	CTTT	G35001193T	SRP54	NM_003136.4(SRP54):c.255+170_255+172dup	noncoding	Benign
14	35008884	C	CT	G35008905T	SRP54	NM_003136.4(SRP54):c.485+73dup	noncoding	Benign
14	35023095	CTTGTTATTAGTTAACAG	C	T35023096A	SRP54	NM_003136.4(SRP54):c.1327+16_1327+32del	noncoding	Benign
14	35023256	TA	T	A35023265C	SRP54	NM_003136.4(SRP54):c.1327+185del	noncoding	Benign
14	35028068	C	CT	C35028080T	SRP54	NM_003136.4(SRP54):c.1328-9dup	noncoding	Benign
14	35028068	CT	C	T35028079C	SRP54	NM_003136.4(SRP54):c.1328-9del	noncoding	Benign
14	35028079	T	TTC	C35028080T	SRP54	NM_003136.4(SRP54):c.1328-9_1328-8insTC	noncoding	Benign
14	35099271	AAAG	A	G35099280C	PPP2R3C	NM_017917.4(PPP2R3C):c.678CTT[2]:p.Phe229del	coding	Pathogenic
14	35099310	G	GGAGTAGAAA	T35099322G	PPP2R3C	NM_017917.4(PPP2R3C):c.639_647dup:p.Tyr218_Val219insSerPheTyr	coding	Pathogenic
14	35180695	T	TA	T35180700A	PRORP	NM_014672.4(PRORP):c.1197dup:p.Ser400fs	coding	Pathogenic/Likely_pathogenic
14	35402074	G	GA	G35402081A	NFKBIA	NM_020529.3(NFKBIA):c.907-15dup	noncoding	Benign
14	35403629	ACT	A	C35403632G	NFKBIA	NM_020529.3(NFKBIA):c.336+59_336+60del	noncoding	Benign
14	35404163	T	TG	A35404170G	NFKBIA	NM_020529.3(NFKBIA):c.227+249dup	noncoding	Benign
14	35405502	GA	G	A35405505C	NFKBIA	NC_000014.8:g.35874709del	noncoding	Benign
14	35627049	G	GA	G35627065A	RALGAPA1	NM_001346249.2(RALGAPA1):c.6857+40dup	noncoding	Benign
14	35651881	CA	C	A35651890T	RALGAPA1	NM_001346249.2(RALGAPA1):c.5608-9del	noncoding	Benign
14	35742406	GGT	G	G35742407C	RALGAPA1	NM_001346249.2(RALGAPA1):c.1409_1410del:p.Asp470fs	coding	Pathogenic
14	36517060	C	CT	A36517068T	NKX2-1	NM_001079668.3(NKX2-1):c.*217dup	noncoding	Benign
14	36517091	A	AGGGTGG	G36517095T	NKX2-1	NM_001079668.3(NKX2-1):c.*184_*186C[5]ACCC[1]	noncoding	Benign
14	36517098	GAAAA	G	A36517102G	NKX2-1	NM_001079668.3(NKX2-1):c.*176_*179del	noncoding	Benign
14	36517352	A	ACACCTGAACTGGGTGT	G36517355C	NKX2-1	NM_001079668.3(NKX2-1):c.1131_1132insACACCCAGTTCAGGTG:p.Ser378fs	coding	Pathogenic
14	36517591	TTGCCGTC	T	G36517593T	NKX2-1	NM_001079668.3(NKX2-1):c.886_892del:p.Asp296fs	coding	Pathogenic
14	36517729	T	TA	C36517730A	NKX2-1	NM_001079668.3(NKX2-1):c.754_755insT:p.Asp252fs	coding	Pathogenic
14	36517950	GT	G	T36517951C	NKX2-1	NM_001079668.3(NKX2-1):c.533del:p.Asp178fs	coding	Pathogenic
14	36517951	TC	T	C36517956A	NKX2-1	NM_001079668.3(NKX2-1):c.532del:p.Asp178fs	coding	Pathogenic
14	36517982	TC	T	C36517983A	NKX2-1;SFTA3	NM_001079668.3(NKX2-1):c.501del:p.Met167fs	coding	Pathogenic
14	36519103	GC	G	C36519109A	NKX2-1	NM_001079668.3(NKX2-1):c.344del:p.Gly115fs	coding	Pathogenic/Likely_pathogenic
14	36519109	C	CA	C36519111A	NKX2-1	NM_001079668.3(NKX2-1):c.338dup:p.Tyr116fs	coding	Pathogenic
14	36519134	AC	A	C36519139G	NKX2-1	NM_001079668.3(NKX2-1):c.313del:p.Val105fs	coding	Pathogenic
14	36519723	A	AAG	G36519740A	NKX2-1	NM_001079668.3(NKX2-1):c.77+314CT[9]	noncoding	Benign
14	36662962	G	GCCATC	G36662969C	PAX9	NM_001372076.1(PAX9):c.72_76dup:p.Arg26fs	coding	Pathogenic
14	36663068	GATACAA	AGCCACACAGTCTTGCCACACACAGTCTTCTGCCTCATCTCAAACTACCAGACCCATAACATCCCCCCATCCCAACACATGGTTCGCATTTTCCACCTCCCCCGCCTCTCGCGCCGAGGCAGCCTCAGCCCGGCTTGCTCACTTGGAGAGTGCGGCCGGGGCTGGACTTGGGGCGCAGCCCGGGAGGCCCGAGCCTGCTTGGGGCTGCCGGCTGCAGACTCCGCTGTGGGCAGAGCAGCTTGCTTGGGGACTACTACGGCCGGGATCGGTAATCAGGCCAAGAT	G36663068A	PAX9	NM_001372076.1(PAX9):c.176_182delinsAGCCACACAGTCTTGCCACACACAGTCTTCTGCCTCATCTCAAACTACCAGACCCATAACATCCCCCCATCCCAACACATGGTTCGCATTTTCCACCTCCCCCGCCTCTCGCGCCGAGGCAGCCTCAGCCCGGCTTGCTCACTTGGAGAGTGCGGCCGGGGCTGGACTTGGGGCGCAGCCCGGGAGGCCCGAGCCTGCTTGGGGCTGCCGGCTGCAGACTCCGCTGTGGGCAGAGCAGCTTGCTTGGGGACTACTACGGCCGGGATCGGTAATCAGGCCAAGAT:p.Arg59_Asn61delinsGlnProHisSerLeuAlaThrHisSerLeuLeuProHisLeuLysLeuProAspProTer	coding	Pathogenic
14	36663105	C	CG	C36663111G	PAX9	NM_001372076.1(PAX9):c.218dup:p.Ser74fs	coding	Pathogenic
14	36663130	AC	A	C36663135A	PAX9	NM_001372076.1(PAX9):c.243del:p.Thr82fs	coding	Pathogenic
14	36663243	GC	G	C36663246T	PAX9	NM_001372076.1(PAX9):c.354del:p.Ser119fs	coding	Pathogenic
14	36663319	T	TA	C36663321A	PAX9	NM_001372076.1(PAX9):c.428dup:p.Tyr143Ter	coding	Pathogenic
14	36663347	C	CCTACACCT	A36663348C	PAX9	NM_001372076.1(PAX9):c.455_456insCTACACCT:p.Ala153fs	coding	Pathogenic
14	36663497	TG	T	G36663500C	PAX9	NM_001372076.1(PAX9):c.608del:p.Gly203fs	coding	Pathogenic
14	36663511	ATC	TACCGACCAAGGTAGGGCATCCCT	A36663511T	PAX9	NM_001372076.1(PAX9):c.619_621delinsTACCGACCAAGGTAGGGCATCCCT:p.Ile207delinsTyrArgProArgTer	coding	Pathogenic
14	36666473	T	TC	T36666479C	PAX9	NM_001372076.1(PAX9):c.648dup:p.Tyr217fs	coding	Pathogenic
14	36680738	G	GT	A36680745T	SLC25A21	NM_030631.4(SLC25A21):c.839-20dup	noncoding	Benign
14	36875024	A	AG	T36875025G	SLC25A21	NM_030631.4(SLC25A21):c.71-21_71-20insC	noncoding	Benign
14	39033335	G	GA	G39033342A	SEC23A	NM_006364.4(SEC23A):c.2209-13dup	noncoding	Benign
14	39033422	A	AAATAGAAC	G39033426A	SEC23A	NM_006364.4(SEC23A):c.2209-95_2209-94insATTGTTCT	noncoding	Benign
14	39033426	G	GAA	C39033427A	SEC23A	NM_006364.4(SEC23A):c.2209-99_2209-98insTT	noncoding	Benign
14	39033427	C	CAATAA	C39033428A	SEC23A	NM_006364.4(SEC23A):c.2209-100_2209-99insTTATT	noncoding	Benign
14	39042748	CT	C	T39042751A	SEC23A	NM_006364.4(SEC23A):c.1986+37del	noncoding	Benign
14	39042909	GA	G	A39042914T	SEC23A	NM_006364.4(SEC23A):c.1900-38del	noncoding	Benign
14	39045522	G	GA	T39045531A	SEC23A	NM_006364.4(SEC23A):c.1738-206dup	noncoding	Benign
14	39048451	CA	C	A39048464T	SEC23A	NM_006364.4(SEC23A):c.1737+200del	noncoding	Benign
14	39067535	TA	T	A39067544T	SEC23A	NM_006364.4(SEC23A):c.1104-240del	noncoding	Benign
14	39074610	T	TAAG	G39074614A	SEC23A	NM_006364.4(SEC23A):c.988-83_988-81dup	noncoding	Benign
14	39085682	TTATA	T	T39085687C	SEC23A	NM_006364.4(SEC23A):c.828+72TA[2]	noncoding	Benign
14	39085689	TACACACACACAC	T	A39085718T	SEC23A	NM_006364.4(SEC23A):c.828+33GT[14]	noncoding	Benign
14	39085689	TAC	T	A39085728T	SEC23A	NM_006364.4(SEC23A):c.828+33GT[19]	noncoding	Benign
14	39085689	T	TACACACAC	T39085730A	SEC23A	NM_006364.4(SEC23A):c.828+33GT[24]	noncoding	Benign
14	39093251	T	TA	G39093261A	SEC23A	NM_006364.4(SEC23A):c.222-16dup	noncoding	Benign
14	39150383	TA	T	A39150394T	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.446-3del	noncoding	Benign
14	39154309	G	GA	T39154318A	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.268-16dup	noncoding	Benign
14	45136110	TC	T	C45136112G	FANCM	NM_020937.4(FANCM):c.81del:p.Gly28fs	coding	Pathogenic
14	45136366	C	CT	A45136368T	FANCM	NM_020937.4(FANCM):c.336dup:p.Thr113fs	coding	Pathogenic
14	45137075	C	CA	C45137077A	FANCM	NM_020937.4(FANCM):c.516dup:p.Gln173fs	coding	Pathogenic
14	45137095	GA	G	A45137098T	FANCM	NM_020937.4(FANCM):c.538del:p.Ile180fs	coding	Pathogenic
14	45140616	C	CT	C45140626T	FANCM	NM_020937.4(FANCM):c.682-7dup	noncoding	Benign
14	45140616	CT	C	T45140625C	FANCM	NM_020937.4(FANCM):c.682-7del	noncoding	Benign
14	45148928	GA	G	A45148932G	FANCM	NM_020937.4(FANCM):c.855del:p.Val286fs	coding	Pathogenic
14	45148985	CCT	C	C45148986A	FANCM	NM_020937.4(FANCM):c.909_910del:p.Ile305fs	coding	Pathogenic
14	45149285	GCA	G	C45149308A	FANCM	NM_020937.4(FANCM):c.918+291CA[11]	noncoding	Benign
14	45149285	G	GCA	A45149310C	FANCM	NM_020937.4(FANCM):c.918+291CA[13]	noncoding	Benign
14	45151492	AG	A	G45151493A	FANCM	NM_020937.4(FANCM):c.1015del:p.Asp339fs	coding	Pathogenic
14	45154398	TA	T	A45154416G	FANCM	NM_020937.4(FANCM):c.1184-281del	noncoding	Benign
14	45154398	T	TA	G45154417A	FANCM	NM_020937.4(FANCM):c.1184-281dup	noncoding	Benign
14	45154746	ACT	A	C45154749A	FANCM	NM_020937.4(FANCM):c.1236_1237del:p.Leu412_Tyr413insTer	coding	Pathogenic
14	45155330	G	GA	C45155338A	FANCM	NM_020937.4(FANCM):c.1310-36dup	noncoding	Benign
14	45155423	G	GAACAAAGTTA	G45155426C	FANCM	NM_020937.4(FANCM):c.1362_1363insCAAAGTTAAA:p.Glu455delinsGlnSerTer	coding	Pathogenic
14	45159080	T	TTA	G45159095T	FANCM	NM_020937.4(FANCM):c.1397-15TA[8]	noncoding	Benign/Likely_benign
14	45159255	GT	G	T45159259A	FANCM	NM_020937.4(FANCM):c.1560del:p.Phe520fs	coding	Pathogenic
14	45164561	A	AACTT	G45164564T	FANCM	NM_020937.4(FANCM):c.1786_1787insTTAC:p.Arg596fs	coding	Pathogenic
14	45164595	CA	C	A45164596C	FANCM	NM_020937.4(FANCM):c.1788+31del	noncoding	Benign
14	45166777	C	CAA	T45166797A	FANCM	NM_020937.4(FANCM):c.1789-155_1789-154dup	noncoding	Benign
14	45166777	C	CA	T45166797A	FANCM	NM_020937.4(FANCM):c.1789-154dup	noncoding	Benign
14	45167003	TA	T	A45167005C	FANCM	NM_020937.4(FANCM):c.1844del:p.Asn615fs	coding	Pathogenic
14	45170624	TTA	T	A45170626C	FANCM	NM_020937.4(FANCM):c.2040_2041del:p.Leu680fs	coding	Pathogenic
14	45170721	CT	C	T45170724A	FANCM	NM_020937.4(FANCM):c.2138del:p.Leu713fs	coding	Pathogenic
14	45173084	ACTCT	A	C45173093G	FANCM	NM_020937.4(FANCM):c.2199_2202del:p.Ser734fs	coding	Pathogenic
14	45175088	A	AT	G45175091T	FANCM	NM_020937.4(FANCM):c.2336dup:p.Leu779fs	coding	Pathogenic
14	45175336	TA	T	A45175343G	FANCM	NM_020937.4(FANCM):c.2589del:p.Asp864fs	coding	Pathogenic
14	45175343	AG	A	G45175344A	FANCM	NM_020937.4(FANCM):c.2590del:p.Asp864fs	coding	Pathogenic
14	45175585	C	CAATATTCAATTATATTATTACAT	T45175586A	FANCM	NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT:p.Gly945fs	coding	Pathogenic
14	45175938	GA	G	A45175944G	FANCM	NM_020937.4(FANCM):c.3190del:p.Ser1064fs	coding	Pathogenic
14	45176227	CTT	C	T45176229A	FANCM	NM_020937.4(FANCM):c.3475_3476del:p.Leu1159fs	coding	Pathogenic
14	45176484	G	GAAAT	T45176490A	FANCM	NM_020937.4(FANCM):c.3732_3735dup:p.Leu1246fs	coding	Pathogenic
14	45176698	C	CA	T45176705A	FANCM	NM_020937.4(FANCM):c.3950dup:p.Asn1317fs	coding	Pathogenic
14	45176751	CA	C	A45176759G	FANCM	NM_020937.4(FANCM):c.4005del:p.Val1336fs	coding	Pathogenic
14	45176751	C	CA	G45176760A	FANCM	NM_020937.4(FANCM):c.4005dup:p.Val1336fs	coding	Pathogenic
14	45176850	G	GA	G45176856A	FANCM	NM_020937.4(FANCM):c.4101dup:p.Val1368fs	coding	Pathogenic
14	45176993	A	AT	A45176995T	FANCM	NM_020937.4(FANCM):c.4222+18dup	noncoding	Benign
14	45181488	TA	T	A45181492G	FANCM	NM_020937.4(FANCM):c.4285del:p.Arg1429fs	coding	Pathogenic
14	45183787	CT	C	T45183788A	FANCM	NM_020937.4(FANCM):c.4401del:p.Ser1468fs	coding	Pathogenic
14	45183841	AG	A	G45183843T	FANCM	NM_020937.4(FANCM):c.4456del:p.Val1486fs	coding	Pathogenic
14	45183888	CAG	C	A45183891T	FANCM	NM_020937.4(FANCM):c.4504_4505del:p.His1503fs	coding	Pathogenic
14	45183908	CT	C	T45183916A	FANCM	NM_020937.4(FANCM):c.4515+14del	noncoding	Benign
14	45184940	AT	A	T45184955G	FANCM	NM_020937.4(FANCM):c.4516-262del	noncoding	Benign
14	45187886	AG	A	G45187888T	FANCM	NM_020937.4(FANCM):c.4779+1del	coding	Pathogenic
14	45189222	AC	A	C45189223A	FANCM	NM_020937.4(FANCM):c.5201del:p.Thr1734fs	coding	Pathogenic
14	45189242	T	TA	C45189244A	FANCM	NM_020937.4(FANCM):c.5221dup:p.Thr1741fs	coding	Pathogenic
14	45189335	CTG	C	G45189337A	FANCM	NM_020937.4(FANCM):c.5315_5316del:p.Asp1771_Cys1772insTer	coding	Pathogenic
14	45196210	AT	A	T45196211C	FANCM	NM_020937.4(FANCM):c.5380del:p.Ser1794fs	coding	Pathogenic
14	49583678	GA	G	A49583689G	RPS29	NM_001032.5(RPS29):c.163-4del	noncoding	Benign
14	49583678	G	GA	G49583690A	RPS29	NM_001032.5(RPS29):c.163-14dup	noncoding	Benign
14	49625359	C	CA	T49625373A	DNAAF2	NM_018139.3(DNAAF2):c.*182dup	noncoding	Benign
14	49634673	G	GC	T49634677C	DNAAF2	NM_018139.3(DNAAF2):c.476dup:p.Phe160fs	coding	Pathogenic
14	49634916	C	CA	G49634918A	DNAAF2	NM_018139.3(DNAAF2):c.233dup:p.Arg79fs	coding	Pathogenic
14	49643680	G	GA	T49643690A	POLE2	NM_002692.4(POLE2):c.1566-11dup	noncoding	Benign
14	49802479	AG	A	G49802480T	NEMF	NM_004713.6(NEMF):c.2068del:p.Leu690fs	coding	Pathogenic
14	49828804	A	AG	T49828805G	NEMF	NM_004713.6(NEMF):c.1235_1236insC:p.Pro413fs	coding	Pathogenic
14	50118856	C	CAAA	G50118867A	SOS2	NM_006939.4(SOS2):c.3490-13_3490-11dup	noncoding	Benign
14	50120393	GA	G	A50120398G	SOS2	NM_006939.4(SOS2):c.3380-10del	noncoding	Benign
14	50130015	GA	G	A50130020T	SOS2	NM_006939.4(SOS2):c.3338-14del	noncoding	Benign
14	50133972	T	TC	A50133981C	SOS2	NM_006939.4(SOS2):c.3075+143dup	noncoding	Benign
14	50133980	C	CA	G50133982A	SOS2	NM_006939.4(SOS2):c.3075+142dup	noncoding	Benign
14	50138789	T	TAA	G50138803A	SOS2	NM_006939.4(SOS2):c.2786-18_2786-17dup	noncoding	Benign/Likely_benign
14	50145669	TAAG	T	G50145672A	SOS2	NM_006939.4(SOS2):c.2385-76_2385-74del	noncoding	Benign
14	50150564	CT	C	T50150579G	SOS2	NM_006939.4(SOS2):c.2162-335del	noncoding	Benign
14	50152964	CA	C	A50152976G	SOS2	NM_006939.4(SOS2):c.2161+105del	noncoding	Benign
14	50153393	ATATT	A	T50153397A	SOS2	NM_006939.4(SOS2):c.2058-224_2058-221del	noncoding	Benign
14	50156936	A	AAT	G50156939A	SOS2	NM_006939.4(SOS2):c.2057+61_2057+62dup	noncoding	Benign
14	50156978	TA	T	A50156984T	SOS2	NM_006939.4(SOS2):c.2057+20del	noncoding	Benign
14	50161614	G	GA	C50161621A	SOS2	NM_006939.4(SOS2):c.1069-6dup	noncoding	Benign
14	50180531	AT	A	T50180533A	SOS2	NM_006939.4(SOS2):c.969+40del	noncoding	Benign
14	50180532	T	TA	T50180533A	SOS2	NM_006939.4(SOS2):c.969+39_969+40insT	noncoding	Benign
14	50180532	TTA	T	T50180533A	SOS2	NM_006939.4(SOS2):c.969+38_969+39del	noncoding	Benign
14	50180533	T	TA	C50180554A	SOS2	NM_006939.4(SOS2):c.969+38dup	noncoding	Benign
14	50180685	AT	A	T50180692A	SOS2	NM_006939.4(SOS2):c.859-4del	noncoding	Benign
14	50188482	CA	C	A50188487G	SOS2	NM_006939.4(SOS2):c.714+14del	noncoding	Benign
14	50204091	GT	G	T50204102C	SOS2	NM_006939.4(SOS2):c.213+192del	noncoding	Benign
14	50231012	CA	C	A50231024C	SOS2	NM_006939.4(SOS2):c.87+184del	noncoding	Benign
14	50265501	GAA	G	A50265508T	L2HGDH	NM_024884.3(L2HGDH):c.1065-14_1065-13del	noncoding	Benign
14	50265501	G	GA	T50265510A	L2HGDH	NM_024884.3(L2HGDH):c.1065-13dup	noncoding	Benign
14	50267857	AT	A	T50267858C	L2HGDH	NM_024884.3(L2HGDH):c.959del:p.Asp320fs	coding	Pathogenic
14	50269128	G	GA	T50269136A	L2HGDH	NM_024884.3(L2HGDH):c.906+28dup	noncoding	Benign
14	50269215	TA	T	A50269217T	L2HGDH	NM_024884.3(L2HGDH):c.853del:p.Tyr285fs	coding	Pathogenic
14	50278405	A	ATTACTT	A50278410T	L2HGDH	NM_024884.3(L2HGDH):c.738+114_738+115insGTAAAA	noncoding	Benign
14	50278557	G	GA	G50278566A	L2HGDH	NM_024884.3(L2HGDH):c.704-4dup	noncoding	Benign
14	50294250	CA	C	A50294261G	L2HGDH	NM_024884.3(L2HGDH):c.409-5del	noncoding	Benign
14	50311284	TA	T	A50311289C	L2HGDH	NM_024884.3(L2HGDH):c.140+726del	noncoding	Pathogenic
14	50595518	TTC	T	C50595542G	ATL1	NM_015915.5(ATL1):c.574-57TC[11]	noncoding	Benign
14	50595885	CT	C	T50595896C	ATL1	NM_015915.5(ATL1):c.630+264del	noncoding	Benign
14	50621825	C	CT	C50621831T	ATL1	NM_015915.5(ATL1):c.991-13dup	noncoding	Benign
14	50621831	C	CT	A50621841T	ATL1	NM_015915.5(ATL1):c.991-3dup	noncoding	Benign/Likely_benign
14	50621831	CT	C	T50621840A	ATL1	NM_015915.5(ATL1):c.991-3del	noncoding	Benign
14	50628116	TC	T	C50628118G	ATL1	NM_015915.5(ATL1):c.1207del:p.Arg403fs	coding	Pathogenic
14	50628125	TGAA	T	A50628131T	ATL1	NM_015915.5(ATL1):c.1217AGA[1]:p.Lys407del	coding	Pathogenic/Likely_pathogenic
14	50629926	G	GAAT	T50629928A	ATL1	NM_015915.5(ATL1):c.1552-68_1552-67insATA	noncoding	Benign
14	50629966	TTTTTC	T	C50629971T	ATL1	NM_015915.5(ATL1):c.1552-24_1552-20del	noncoding	Benign
14	50741518	T	TGTA	C50741521A	NIN	NM_020921.4(NIN):c.5448+63_5448+64insACT	noncoding	Benign
14	50743129	C	CT	A50743143T	NIN	NM_020921.4(NIN):c.5301+274dup	noncoding	Benign
14	50744085	AG	A	G50744087A	NIN	NM_020921.4(NIN):c.5187+157del	noncoding	Benign
14	50747750	A	AG	A50747758G	NIN	NM_020921.4(NIN):c.5064+235dup	noncoding	Benign
14	50747750	AG	A	G50747757A	NIN	NM_020921.4(NIN):c.5064+241del	noncoding	Benign
14	50752782	TAA	T	A50752796C	NIN	NM_020921.4(NIN):c.4735-51_4735-50del	noncoding	Benign
14	50752782	TA	T	A50752797C	NIN	NM_020921.4(NIN):c.4735-50del	noncoding	Benign
14	50752782	T	TA	C50752798A	NIN	NM_020921.4(NIN):c.4735-64dup	noncoding	Benign
14	50760437	CTT	C	T50760457C	NIN	NM_020921.4(NIN):c.1897-80_1897-79del	noncoding	Benign
14	50763710	ATTCT	A	C50763713T	NIN	NM_020921.4(NIN):c.1774+112_1774+115del	noncoding	Benign
14	50763713	CT	C	T50763727C	NIN	NM_020921.4(NIN):c.1774+112del	noncoding	Benign
14	50763713	CTT	C	T50763726C	NIN	NM_020921.4(NIN):c.1774+111_1774+112del	noncoding	Benign
14	50771684	GA	G	A50771696T	NIN	NM_020921.4(NIN):c.982-217del	noncoding	Benign
14	50908139	GT	G	T50908149G	PYGL	NM_002863.5(PYGL):c.2379+131del	noncoding	Benign
14	50908139	GTTT	G	T50908147G	PYGL	NM_002863.5(PYGL):c.2379+129_2379+131del	noncoding	Benign
14	50908965	AG	A	G50908969T	PYGL	NM_002863.5(PYGL):c.2178-11del	noncoding	Benign
14	50908981	T	TA	G50908989A	PYGL	NM_002863.5(PYGL):c.2178-33dup	noncoding	Benign/Likely_benign
14	50914496	C	CAAT	A50914523T	PYGL	NM_002863.5(PYGL):c.1518+181ATT[9]	noncoding	Benign
14	50914496	C	CAATAAT	A50914523T	PYGL	NM_002863.5(PYGL):c.1518+181ATT[10]	noncoding	Benign
14	50914699	AC	A	C50914701T	PYGL	NM_002863.5(PYGL):c.1518+1del	noncoding	Pathogenic
14	50915178	C	CT	A50915191T	PYGL	NM_002863.5(PYGL):c.1403+146dup	noncoding	Benign
14	50920952	TCA	T	C50920955G	PYGL	NM_002863.5(PYGL):c.772+2_772+3del	noncoding	Pathogenic
14	50944205	GC	G	C50944209A	PYGL	NM_002863.5(PYGL):c.198del:p.Arg67fs	coding	Pathogenic
14	50944370	G	GC	G50944373C	PYGL	NM_002863.5(PYGL):c.33dup:p.Arg12fs	coding	Pathogenic
14	53046607	ACTT	A	C53046611T	DDHD1	NM_001160148.2(DDHD1):c.*155AAG[1]	noncoding	Benign
14	53046759	CAA	C	A53046760G	DDHD1	NM_001160148.2(DDHD1):c.*7_*8del	noncoding	Benign
14	53046760	AAG	A	A53046765T	DDHD1	NM_001160148.2(DDHD1):c.*2CT[2]	noncoding	Benign
14	53047007	TAG	T	G53047009C	DDHD1	NM_001160148.2(DDHD1):c.2522-60_2522-59del	noncoding	Benign
14	53047192	CA	C	A53047201T	DDHD1	NM_001160148.2(DDHD1):c.2522-244del	noncoding	Benign
14	53051833	AT	A	T53051834A	DDHD1	NM_001160148.2(DDHD1):c.2521+10del	noncoding	Benign
14	53055606	T	TA	T53055608A	DDHD1	NM_001160148.2(DDHD1):c.2245+53dup	noncoding	Benign
14	53055920	TA	T	A53055931T	DDHD1	NM_001160148.2(DDHD1):c.1993-9del	noncoding	Benign
14	53058594	TA	T	A53058596T	DDHD1	NM_001160148.2(DDHD1):c.1874del:p.Pro624_Leu625insTer	coding	Pathogenic
14	53063070	T	TTA	G53063074A	DDHD1	NM_001160148.2(DDHD1):c.1637_1638dup:p.Met547Ter	coding	Pathogenic
14	53072707	CA	C	A53072712C	DDHD1	NM_001160148.2(DDHD1):c.1397-5del	noncoding	Benign/Likely_benign
14	53073417	CA	C	A53073420T	DDHD1	NM_001160148.2(DDHD1):c.1396+323del	noncoding	Benign
14	53102709	CAAG	C	G53102718A	DDHD1	NM_001160148.2(DDHD1):c.1012+965CTT[2]	noncoding	Benign
14	53152703	G	GC	G53152710C	DDHD1	NM_001160148.2(DDHD1):c.395dup:p.Gly133fs	coding	Pathogenic
14	53152852	AG	A	G53152856T	DDHD1	NM_001160148.2(DDHD1):c.246del:p.Cys83fs	coding	Pathogenic
14	53153093	A	AT	C53153096T	DDHD1	NM_001160148.2(DDHD1):c.5dup:p.Asn2fs	coding	Pathogenic
14	53949719	GA	G	A53949729T	BMP4	Single_allele	noncoding	Benign
14	53951995	ACT	A	C53951998T	BMP4	NM_001202.6(BMP4):c.226_227del:p.Ser76fs	coding	Pathogenic
14	53952008	TGCGGGCGGCG	T	G53952012C	BMP4	NM_001202.6(BMP4):c.205_214del:p.Arg69fs	coding	Pathogenic
14	53952051	C	CG	A53952053G	BMP4	NM_001202.6(BMP4):c.171dup:p.Glu58fs	coding	Pathogenic
14	54844041	C	CT	C54844043T	GCH1	NM_000161.3(GCH1):c.728dup:p.Phe244fs	coding	Pathogenic
14	54844091	TCA	T	C54844094G	GCH1	NM_000161.3(GCH1):c.677_678del:p.Val226fs	coding	Pathogenic
14	54845477	C	CAA	G54845490A	GCH1	NM_000161.3(GCH1):c.626+279_626+280dup	noncoding	Benign
14	54845765	T	TA	C54845767A	GCH1	NM_000161.3(GCH1):c.626+2dup	noncoding	Pathogenic
14	54865042	CAA	C	A54865054G	GCH1	NM_000161.3(GCH1):c.453+283_453+284del	noncoding	Benign
14	54865042	CA	C	A54865055G	GCH1	NM_000161.3(GCH1):c.453+284del	noncoding	Benign
14	54865383	TCA	T	C54865386A	GCH1	NM_000161.3(GCH1):c.395_396del:p.Val132fs	coding	Pathogenic
14	54865426	GT	G	T54865429A	GCH1	NM_000161.3(GCH1):c.353del:p.Asn118fs	coding	Pathogenic
14	54902440	T	TAGGC	G54902445A	GCH1	NM_000161.3(GCH1):c.220_223dup:p.Tyr75fs	coding	Pathogenic
14	54902451	CA	C	A54902452G	GCH1	NM_000161.3(GCH1):c.212del:p.Leu71fs	coding	Pathogenic
14	54902659	T	TCC	A54902662C	GCH1	NM_000161.3(GCH1):c.3_4dup:p.Glu2fs	coding	Pathogenic
14	54902896	CCGGCCCCGCCTCGCGTCA	C	C54902903T	GCH1	NC_000014.8:g.55369615_55369632del	noncoding	Benign
14	56582231	CTTCCTGATAAGTCTTACATTTTACTCCATAGATTCATCACATTGTGTCGTCTTGCCAAAATTATTTTTTGTACCACTTGACACACACAGTTCATTTATGGGCAGGGTGCTTGTGGTGCTTTTCGGGGAGGGGGTAGGAATCTGGCCTTCACTAAATTAGTTTGTACGTGAGTTTATTTCAAAGATACTGTCTTTAACAGATGTGATGTGTGACAGTCTAGTCTAATTAATATTGAGAAGTATGATATAAAGGGAGCTGGTTTTTGTAAAGGTTAAGCATCTGCTGACAACTCTGGGCTTGCCATTAGTTTGTATTGCAGACAACAAAGCCGTGGTTCTCAGACAGGAACGTACTTCAGAATTACCTGGGAAACTTGAGCCCCCAGTGCAAGTGGGTCTTAGTAGATTATGGAATTTGGAGGTGTGGGCAAGGAATCTTCATTTTTAAAAAGCAGGTTAATTCTGATGCAGGTAGACACAACTGAGGAACCTTTCATGTAAAGGGTTGGGAGAAAGCCAAGACTCGGGAAGCTCGAGGTTTTTTTACTATTCCCTTCCTCTTTATCACAATCAATTTAAGAGTAGTATTTCCCTTTAGATCTTTATCAAGGTTACATTTAGAGACGTTGAATGGGGACATCTTTTCTATTTCGATTTTAGTTTAACATTTGATAAGAATTGATGAAAGTTTGTCACATTCCAGATTTATCTTTATAGCAGCAGAAGTCTGGCAAATAATAACAGCACACTGACTTTTCCATGGTAAAAAGAAGTTAGAGAAAAACAGCCTATTTTTCTTAATGTTAAATGTAATTCTGAATACATTTTAAATGGAGGAGAATGAATAGTGACCTTTGAAATTTTGAATTTATGGTGGCTTCGTTACAAAAAGATTACAGGAACAAAAAAATCGAAAATAGTTTGGAGCTAAAGACTTAAGAGCTAATCCATTATGGAGTAAACTATAAAATCATATCCTTTACAGTAGTTAACAAAGGGAACAGTTGTTTGAGACATTGTGAGACCATAAACTATTTAAAAAGAAGCATTTAGGATATAAAATGTGCTGGTTTCTCAGGTGCTCTTGAATATCTCTTAACAAATGTCCTTAAGTAATTGACTTAATCTGTCTTCAGGTGCCCTTATAAGGCTTCCATGATGCAGTCACCTAAGACTGGGGTGTCTTAGTAGCAAGGATGACAATGTGATGTGTATTTTTGTTAACCTCTGTGTGTATGGCTTGAATTGATGCTTTGTGTGTGGCCAGAGGGGAGAGGTGGTGGTATCCTGGCACGATCGTGAAATGGATAGGATAATGTTTTTAAACTTAGTGGGAGAGAGAAATGAAAACCAACCAGAATATAAGGCCATCTAAAGTGCTAAATAGACTCAAGCAGGTTCTATGGAGGAGGAAGAAGTGATTAATTCTGATGGGGAGGCTGGGGAAGCAGGTGTCTAAGGAAAGGTTACCAAGAAGGTGGCAATTGAACTTGGCCTTGAAGGATTTAGGGGGAGAATGCTAGGGAAAATATTCCAGGGTGAGAAAATGAGTGAGAAGAGGTGCAAAAGAGGACCACTCCAGAGAAACAGTGGGTAATAAGATTTGACTGGAGGGAACATAGGTTTCATGGATATAAGCCTAGAAAAGGGACCTTGAAACCATAGAAAGCTTGAACGTCATGCTGAGGAATCTGAACTTCGTTCAGTAAGCAGAGAGCAGCCATTGAGAAATTTTAGACTAGGGATGCAATCCAGCCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTAGGGGCATGGGGGAAGGCAGGTGTTGATTATAAGTGATTTCAGTATGAAGATGAATTGAAGTAGGATTGGTCAAGTCTGTTGCCATAGTCCAGGCCAGAGAGAGTAAAGGTCTAAATTGTAGCTGGGACAGAAATTAAATGCAGAGTATTGCTATCTATGAAAGGATAGGAAGTGGACAGTAGTACATTTCCTAATAGGTACTAGTAACTTTCATGAGTCATTCATCAATATTGATTCCTTACATTGTACGGTACTACAATGTACAGGGATGAGTCAGAAATAGTCCCTGTGCTCTGAATACGTAAAAGGTTAACAAATAGGCATCAAATTACTGCATCATAATTTTAGAAATAGTCACTAATGGTGAGGAACTATAAAGGACTATGTAAAGAATATTATTTAATGGTTTGAAAAAATGTCTTACAGTGAACCTTACCGAAATAACGTGGAGTTAATAAACACTTGGAAATCATTTAAAGATATCCAGTGCAATTAATGTGGAGAAGATACCCAAATGCCAGTTTTAGGGTAGTATGGGACATTTTATGGAGTGTCCAAACCTCAGATGTCTGCGCATTTTACCTTACTATAAGGTTGTATCTTTATAGACTTTCGTGCTAATTTCTTGAGGGATAATAAAGCATATTACACTAATGCTCCAACAGTATTTGTATATTTGCAAGTGGATACAACTTTCAAGAGGGAAAATAAGCATTTTTTAAAGACCAGAATGTACCTATATTTCCACTGACCACTTCTTAAAGACTATCAAAGATAGTTTGTTCAATAAGACCTAAAGGAGAAAATATTCTTAGACTATTTCATGCTGTTAAATCTCTACAGATTTACAGTTTTATCCAGTCAAATTAATGCAAAACCCCAATGCAAGCATTTGGATTTTGAAAACTTTGGAGGAGTGTCATTCTCTAATAGTAATTATTGGTTTTACATTATTTTTTCACAGGGGAACTGATCACAGCCGCACATGAGCTTGGAGTAAGTATTAGTTTTATTGTTTAATCAATGCTCTCATTAACAGTTTTAGGAATTAAGAAAGTTTAATTAAGCATGGAGTAAAGTAGATTAATTTATTTTCAAACCCCCGTTTTTAGTAACTTATAAGTACAGTACGTGACAATTTACTTTAAGTTTTAAATCCAATTAAACTAAATTATAAAGCAAAGCCTTTACTATATATACAGTAGCTGCCTTATTATCACCCCAAATTTTGTATAAGCTGTGGGGAATAAAATAAATCGGGTTAACAGTTTTAATAAGTTTATTATTTAATAAACTTTATTATGGTGCATGATCCCTTCAGGCAAGACCTTACGACTGTCAGCATGGTGGTAATCCGATAGCAGTGTGGTCTTTCAACTTTCTAACCAATACGATATTTCAGAACCTGCTTTTTTTCAATAGCCTTTTAAATGACCCTAATGTACTGTGAACCCAGAGAACAAACTGCTTAAGAACTGACAATGAAATATGTCACCCTTTCTCTGGGTGACGCACCATGTGATAGACGCTGCCAAATCCACTAAAGAAAATATTTATTTGTATTGCCTCAAGAGGATTACAATAGAAAACCACTATTCAAACATTTAGTCATTGGTGCCTAATCTTTATAGCTGCTTGAGAAAAGGGCTACTTTTCAATTAAGGCCTGTGGGACTCTTCCTTTCCTAGATGAAAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGCTGGTGGCTAAACTGGCAATTACACTGTTTCCTTTTGGTTCAATTGCCTACCGCGTCAATCTTCTCTGTGGCTTATTTGGAGCAGTAGCTGCATCATTACTTTTTTTCACCGTTTTCAGGTAAAGTAGTTGATTAGTTAAAATTAATTTTGAGCAGTTGGAGATGTAGATTTCTTATGGCTCAAGTACATACATTAAAAAAATCTTTTGTTGCTTGGTTTCCCTAACACATGTGATTTCACTTTCTTAATTTATAATACTTTCATATGCATTTGACCCCTCAAATGATTACACAGTTGGTTTTGTTTCCTACAGTGGAGTGAAGGTGTCACCAGTTCATTATCACAGTTCTCTGATTAGGCAGAACTAATGAGGTTTGTCATTTTGTGAAGATGCAGATGGGCCAGTTTAATTCAACAATATGAGGTTCATCTTTTGGTAAATGGTAAATATCATTTAATTATTCACAGTATTGCTGACGAGCAGCTGCCTATCAGGTCCAGGGCTAATACCTAATTATATTGTATTCTAAATATGAACATGTTGTATACTTTCTGAAATAAGGATATTAACTAAGGAAATCAATTTGGGATGTGGTTTTAGTAAGGTTTCACTCTGCTCCGTTATGGCTGTAGTAAAGGTAGGCAAATTAGATCCCAAGTAATTCATTGATAGAAGACTTTCTTAGGTTGGAAGTCTACCCTGCTTTTAAAACATTGGTCATTAGTTTAGAATGCTGGTAACCCATTGTCTTTGATGTTCTGTCTCCTTCATTCTTAACTCAGTGCATCCTATACCTAAGAGGATTATAGTGAAAAATACAAATTACACTTTCTGCAAAAGGAAAAACCAAATTAAAACACTTCTTCTAAAAACTTTTGCATGTCTTACTATAAAACAAATGATTTCTGTAGGTAAATATAATTTGAATAGGTACAATTTCAAATGTCTTTTTTGGAGACCAATATTTTTATTTGTGTCAAAGTCATAATACTGCCCTTTAGCCAAATTCTAAATTCTCTTTTAATTATTTATAGAAAGATAAGAGTTAGTATAATTATAACTCTGAAGTTTACTTTTGATCTGTATGTGAAAAAACTTTCAGATTCAAGTATTGTAACTGTTGATCTTTTCCCAAATTGTTATATTATTAAATTTGTTATTTTAGTCTTTATGAAATATTTAAAATAATGTTTCTGCTTAGATTCATTAGTACTATTAATATTTTTCTTTTTCTCAATGGTTAGGATAATTTTTATTAGAATTGTTCCTTCTGAGTCTTTTGTAATTAATAATCTGTCAGTATTTCCACTGAGAGAAAAAGTGTTTTT	C	T56582233G	TMEM260	NM_017799.4(TMEM260):c.160+2159_344+1212del	noncoding	Pathogenic
14	56609234	G	GC	A56609236C	TMEM260	NM_017799.4(TMEM260):c.766dup:p.Gln256fs	coding	Pathogenic
14	56633089	GT	G	T56633091C	TMEM260	NM_017799.4(TMEM260):c.1644del:p.Pro549fs	coding	Pathogenic
14	56801900	T	TG	A56801905G	OTX2	NM_021728.4(OTX2):c.728dup:p.Ala244fs	coding	Pathogenic
14	56801930	AT	A	T56801932G	OTX2	NM_021728.4(OTX2):c.698del:p.Asn233fs	coding	Pathogenic
14	56801988	GTCAAATA	G	C56801990G	OTX2	NM_021728.4(OTX2):c.634_640del:p.Tyr212fs	coding	Pathogenic
14	56802037	C	CATAT	C56802042A	OTX2	NM_021728.4(OTX2):c.588_591dup:p.Ala198fs	coding	Pathogenic
14	56802075	ATGGGATAG	A	T56802076G	OTX2	NM_021728.4(OTX2):c.546_553del:p.Tyr183fs	coding	Pathogenic
14	56802184	T	TC	G56802186C	OTX2	NM_021728.4(OTX2):c.444dup:p.Thr149fs	coding	Pathogenic
14	56804330	C	CG	T56804337G	OTX2	NM_021728.4(OTX2):c.130dup:p.Arg44fs	coding	Pathogenic
14	56804330	CG	C	G56804336T	OTX2	NM_021728.4(OTX2):c.130del:p.Arg44fs	coding	Pathogenic
14	56805812	T	TA	G56805828A	OTX2	NM_021728.4(OTX2):c.-119-252dup	noncoding	Benign
14	58257733	C	CT	C58257742T	PSMA3	NM_002788.4(PSMA3):c.229-4dup	noncoding	Benign
14	58263689	A	AT	C58263697T	PSMA3	NM_002788.4(PSMA3):c.478-9dup	noncoding	Benign
14	58428294	GA	G	A58428302G	KIAA0586	NM_001329943.3(KIAA0586):c.38del:p.Lys13fs	coding	Pathogenic
14	58428481	GT	G	T58428486C	KIAA0586	NM_001329943.3(KIAA0586):c.199+23del	noncoding	Benign
14	58429690	CT	C	T58429691C	KIAA0586	NM_001329943.3(KIAA0586):c.270+258del	noncoding	Benign
14	58430735	A	AT	A58430743T	KIAA0586	NM_001329943.3(KIAA0586):c.340+25dup	noncoding	Benign
14	58441107	AT	A	T58441115C	KIAA0586	NM_001329943.3(KIAA0586):c.411-1591del	noncoding	Benign
14	58443989	T	TA	C58443991A	KIAA0586	NM_001329943.3(KIAA0586):c.622dup:p.Thr208fs	coding	Pathogenic
14	58448469	TA	T	A58448470T	KIAA0586	NM_001329943.3(KIAA0586):c.938del:p.Tyr313fs	coding	Pathogenic
14	58448634	C	CG	A58448635G	KIAA0586	NM_001329943.3(KIAA0586):c.961+141_961+142insG	noncoding	Benign
14	58448635	A	AG	A58448636G	KIAA0586	NM_001329943.3(KIAA0586):c.961+142_961+143insG	noncoding	Benign
14	58448636	A	AT	A58448644T	KIAA0586	NM_001329943.3(KIAA0586):c.961+150dup	noncoding	Benign
14	58450565	A	AT	C58450570T	KIAA0586	NM_001329943.3(KIAA0586):c.962-10dup	noncoding	Benign
14	58450690	CAA	C	A58450692G	KIAA0586	NM_001329943.3(KIAA0586):c.1075_1076del:p.Lys359fs	coding	Pathogenic
14	58450708	TG	T	G58450710A	KIAA0586	NM_001329943.3(KIAA0586):c.1093del:p.Glu365fs	coding	Pathogenic
14	58450756	AC	A	C58450757T	KIAA0586	NM_001329943.3(KIAA0586):c.1129+11del	noncoding	Benign/Likely_benign
14	58457856	CTGAGAAGATTT	C	A58457862G	KIAA0586	NM_001329943.3(KIAA0586):c.1466_1476del:p.Lys489fs	coding	Pathogenic
14	58459852	T	TC	A58459854C	KIAA0586	NM_001329943.3(KIAA0586):c.1667dup:p.Arg557fs	coding	Pathogenic
14	58460055	GA	G	A58460058G	KIAA0586	NM_001329943.3(KIAA0586):c.1872del:p.Glu625fs	coding	Pathogenic
14	58461034	CA	C	A58461036G	KIAA0586	NM_001329943.3(KIAA0586):c.1935del:p.Val646fs	coding	Pathogenic
14	58461146	TAG	T	G58461148A	KIAA0586	NM_001329943.3(KIAA0586):c.2047_2048del:p.Glu683fs	coding	Pathogenic
14	58470705	TG	T	G58470706T	KIAA0586	NM_001329943.3(KIAA0586):c.2536del:p.Val846fs	coding	Pathogenic
14	58472515	GTCTA	G	A58472519G	KIAA0586	NM_001329943.3(KIAA0586):c.2634+240_2634+243del	noncoding	Benign
14	58477256	A	AT	G58477266T	KIAA0586	NM_001329943.3(KIAA0586):c.2944+24dup	noncoding	Benign
14	58482664	T	TG	C58482666G	KIAA0586	NM_001329943.3(KIAA0586):c.3097dup:p.Ala1033fs	coding	Pathogenic
14	58487870	T	TAA	C58487880A	KIAA0586	NM_001329943.3(KIAA0586):c.3305-9_3305-8dup	noncoding	Benign
14	58487870	T	TA	C58487880A	KIAA0586	NM_001329943.3(KIAA0586):c.3305-8dup	noncoding	Benign
14	58487931	AC	A	C58487935T	KIAA0586	NM_001329943.3(KIAA0586):c.3353del:p.Pro1118fs	coding	Pathogenic
14	58488727	GC	G	C58488731T	KIAA0586	NM_001329943.3(KIAA0586):c.3638del:p.Pro1213fs	coding	Pathogenic
14	58488792	TG	T	G58488793T	KIAA0586	NM_001329943.3(KIAA0586):c.3700del:p.Val1234fs	coding	Pathogenic
14	58508609	TG	T	G58508611A	KIAA0586	NM_001329943.3(KIAA0586):c.4225del:p.Glu1409fs	coding	Pathogenic
14	58512316	GT	G	T58512325G	KIAA0586	NM_001329943.3(KIAA0586):c.4324-197del	noncoding	Benign
14	58536814	T	TA	C58536817A	KIAA0586	NM_001329943.3(KIAA0586):c.4430-3255dup	noncoding	Benign
14	58539823	TC	T	C58539832A	KIAA0586	NM_001329943.3(KIAA0586):c.4430-239del	noncoding	Benign
14	58540115	T	TATTA	C58540117T	KIAA0586	NM_001329943.3(KIAA0586):c.4475_4476insTTAA:p.Tyr1492_Leu1493insTer	coding	Pathogenic
14	58547499	CGTTA	C	G58547500C	KIAA0586	NM_001329943.3(KIAA0586):c.4496-281_4496-278del	noncoding	Benign
14	60483718	CTA	C	A60483720G	C14orf39	NM_174978.3(C14orf39):c.204_205del:p.His68fs	coding	Pathogenic
14	60649489	TC	T	C60649493G	SIX1	Single_allele	noncoding	Benign
14	62779928	GA	G	A62779932C	KCNH5	NM_139318.5(KCNH5):c.1823-5del	noncoding	Benign
14	62980861	G	GA	C62980867A	KCNH5	NM_139318.5(KCNH5):c.942+10dup	noncoding	Benign
14	63006474	T	TG	A63006482G	KCNH5	NM_139318.5(KCNH5):c.198-9dup	noncoding	Benign
14	63016970	G	GA	G63016977A	KCNH5	NM_139318.5(KCNH5):c.74-17dup	noncoding	Benign
14	63940447	TA	T	A63940451C	SYNE2	NM_182914.3(SYNE2):c.80-163del	noncoding	Benign
14	63940453	AC	A	C63940454T	SYNE2	NM_182914.3(SYNE2):c.80-160del	noncoding	Benign
14	63940455	TA	T	A63940456C	SYNE2	NM_182914.3(SYNE2):c.80-158del	noncoding	Benign
14	63964010	A	AT	A63964015T	SYNE2	NM_182914.3(SYNE2):c.990+14dup	noncoding	Benign
14	63976540	CT	C	T63976559C	SYNE2	NM_182914.3(SYNE2):c.1129-4del	noncoding	Benign
14	63976540	CTT	C	T63976558C	SYNE2	NM_182914.3(SYNE2):c.1129-5_1129-4del	noncoding	Benign
14	63976540	CTTT	C	T63976557C	SYNE2	NM_182914.3(SYNE2):c.1129-6_1129-4del	noncoding	Benign
14	63976984	C	CA	G63976995A	SYNE2	NM_182914.3(SYNE2):c.1293+267dup	noncoding	Benign
14	63981362	T	TTA	C63981371T	SYNE2	NM_182914.3(SYNE2):c.1836+190TA[5]	noncoding	Benign
14	63982519	C	CA	G63982538A	SYNE2	NM_182914.3(SYNE2):c.1837-93dup	noncoding	Benign
14	63982535	AAAG	A	G63982538A	SYNE2	NM_182914.3(SYNE2):c.1837-92_1837-90del	noncoding	Benign
14	63993818	A	AT	A63993833T	SYNE2	NM_182914.3(SYNE2):c.2647-3dup	noncoding	Benign
14	63994853	G	GA	C63994863A	SYNE2	NM_182914.3(SYNE2):c.2782-182dup	noncoding	Benign
14	64003441	ACT	A	C64003444A	SYNE2	NM_182914.3(SYNE2):c.4397+114_4397+115del	noncoding	Benign
14	64016162	C	CT	G64016170T	SYNE2	NM_182914.3(SYNE2):c.4729-304dup	noncoding	Benign
14	64022731	CT	C	T64022740C	SYNE2	NM_182914.3(SYNE2):c.5525-11del	noncoding	Benign
14	64029673	GA	G	A64029679C	SYNE2	NM_182914.3(SYNE2):c.6715-216del	noncoding	Benign
14	64049429	A	AAATAATAATAATAATAATAAT	T64049460A	SYNE2	NM_182914.3(SYNE2):c.7378-181AAT[17]	noncoding	Benign
14	64049429	A	AAATAATAAT	T64049460A	SYNE2	NM_182914.3(SYNE2):c.7378-181AAT[13]	noncoding	Benign
14	64049429	A	AAATAAT	T64049460A	SYNE2	NM_182914.3(SYNE2):c.7378-181AAT[12]	noncoding	Benign
14	64049429	A	AAAT	T64049460A	SYNE2	NM_182914.3(SYNE2):c.7378-181AAT[11]	noncoding	Benign
14	64055832	T	TAATAA	A64055840T	SYNE2	NM_182914.3(SYNE2):c.9745-109_9745-105dup	noncoding	Benign
14	64056325	TA	T	A64056328C	SYNE2	NM_182914.3(SYNE2):c.10067+62del	noncoding	Benign
14	64065195	G	GAA	T64065203A	SYNE2	NM_182914.3(SYNE2):c.10213-231_10213-230dup	noncoding	Benign
14	64089754	AAATAT	A	A64089763G	SYNE2	NM_182914.3(SYNE2):c.11793+67_11793+71del	noncoding	Benign
14	64120918	G	GT	G64120923T	SYNE2	NM_182914.3(SYNE2):c.13024-5dup	noncoding	Benign
14	64141812	G	GT	G64141823T	SYNE2	NM_182914.3(SYNE2):c.15160-120dup	noncoding	Benign
14	64141812	GT	G	T64141822G	SYNE2	NM_182914.3(SYNE2):c.15160-120del	noncoding	Benign
14	64174930	C	CT	C64174939T	SYNE2	NM_182914.3(SYNE2):c.17236-6dup	noncoding	Benign
14	64189964	A	AT	A64189982T	SYNE2	NM_182914.3(SYNE2):c.17872-90dup	noncoding	Benign
14	64189964	A	ATT	A64189982T	SYNE2	NM_182914.3(SYNE2):c.17872-91_17872-90dup	noncoding	Benign
14	64219102	TTG	T	G64219104T	SYNE2	NM_182914.3(SYNE2):c.19658-104_19658-103del	noncoding	Benign
14	64219103	TG	T	G64219104T	SYNE2	NM_182914.3(SYNE2):c.19658-104del	noncoding	Benign
14	64219104	G	GT	A64219125T	SYNE2	NM_182914.3(SYNE2):c.19658-84dup	noncoding	Benign
14	64219108	T	TTG	T64219110G	SYNE2	NM_182914.3(SYNE2):c.19658-99_19658-98insGT	noncoding	Benign
14	64219124	T	TTA	A64219125T	SYNE2	NM_182914.3(SYNE2):c.19658-84_19658-83insTA	noncoding	Benign
14	64224926	AT	A	T64224940A	SYNE2	NM_182914.3(SYNE2):c.20470-59del	noncoding	Benign
14	64260983	CAA	C	A64260985C	ESR2	NM_001437.3(ESR2):c.653-237_653-236del	noncoding	Benign
14	64280215	G	GAA	T64280225A	ESR2	NM_001437.3(ESR2):c.363-71_363-70dup	noncoding	Benign
14	64280215	G	GA	T64280225A	ESR2	NM_001437.3(ESR2):c.363-71dup	noncoding	Benign
14	64426198	CT	C	T64426203A	MTHFD1	NM_005956.4(MTHFD1):c.1127+11del	noncoding	Benign
14	64444674	CTG	C	G64444676T	MTHFD1	NM_005956.4(MTHFD1):c.2137-17_2137-16del	noncoding	Benign
14	64753601	GCA	G	A64753605T	SPTB	NM_001355436.2(SPTB):c.6536_6537del:p.Val2179fs	coding	Pathogenic
14	64753805	A	AT	A64753807T	SPTB	NM_001355436.2(SPTB):c.6346-13dup	noncoding	Benign
14	64767761	CTG	C	G64767767C	SPTB	NM_001355436.2(SPTB):c.6119_6120del:p.Thr2040fs	coding	Pathogenic
14	64767821	CCA	C	C64767824G	SPTB	NM_001355436.2(SPTB):c.6059_6060del:p.Val2020fs	coding	Pathogenic
14	64769114	CG	C	G64769116A	SPTB	NM_001355436.2(SPTB):c.5941del:p.Arg1981fs	coding	Pathogenic
14	64770945	C	CG	C64770949G	SPTB	NM_001355436.2(SPTB):c.5737dup:p.Arg1913fs	coding	Pathogenic
14	64772564	A	AG	C64772570G	SPTB	NM_001355436.2(SPTB):c.5553+15dup	noncoding	Benign
14	64772597	GGAGCTCCC	G	A64772599C	SPTB	NM_001355436.2(SPTB):c.5528_5535del:p.Arg1843fs	coding	Pathogenic
14	64773298	GT	G	T64773299C	SPTB	NM_001355436.2(SPTB):c.5099del:p.Asp1700fs	coding	Pathogenic
14	64774388	CG	C	G64774389C	SPTB	NM_001355436.2(SPTB):c.4973+8del	noncoding	Benign
14	64779787	TCCTC	T	C64779789T	SPTB	NM_001355436.2(SPTB):c.4407_4410del:p.Lys1471fs	coding	Pathogenic
14	64779829	CG	C	G64779830A	SPTB	NM_001355436.2(SPTB):c.4368del:p.Ile1456fs	coding	Pathogenic
14	64784247	CGCATCGATGTTCTCTA	C	A64784250C	SPTB	NM_001355436.2(SPTB):c.3986_4001del:p.Leu1329fs	coding	Pathogenic
14	64785351	GA	G	A64785363C	SPTB	NM_001355436.2(SPTB):c.3855+185del	noncoding	Benign
14	64785560	TCTGTAGCTCCAGGT	AC	T64785560A	SPTB	NM_001355436.2(SPTB):c.3818_3832delinsGT:p.Asn1273fs	coding	Pathogenic
14	64786858	T	TG	C64786860G	SPTB	NM_001355436.2(SPTB):c.3106dup:p.Gln1036fs	coding	Pathogenic
14	64787288	GA	G	A64787299T	SPTB	NM_001355436.2(SPTB):c.2805-129del	noncoding	Benign
14	64791739	G	GTA	C64791742T	SPTB	NM_001355436.2(SPTB):c.2782_2783dup:p.Gln929fs	coding	Pathogenic
14	64793015	AG	A	G64793017T	SPTB	NM_001355436.2(SPTB):c.2647del:p.Leu883fs	coding	Pathogenic
14	64793123	GC	G	C64793124T	SPTB	NM_001355436.2(SPTB):c.2539del:p.Ala847fs	coding	Pathogenic
14	64793239	TC	T	C64793242T	SPTB	NM_001355436.2(SPTB):c.2423del:p.Gly808fs	coding	Pathogenic
14	64793570	TG	T	G64793572A	SPTB	NM_001355436.2(SPTB):c.2092del:p.Gln698fs	coding	Pathogenic
14	64795350	A	AT	C64795352T	SPTB	NM_001355436.2(SPTB):c.1630dup:p.Met544fs	coding	Pathogenic
14	64795470	TC	T	C64795472T	SPTB	NM_001355436.2(SPTB):c.1510del:p.Asp504fs	coding	Pathogenic
14	64796872	C	CT	G64796876T	SPTB	NM_001355436.2(SPTB):c.1183-160dup	noncoding	Benign
14	64797719	GCTGTGGTACC	G	G64797724T	SPTB	NM_001355436.2(SPTB):c.1182_1182+9del	noncoding	Pathogenic
14	64799810	AGC	A	C64799812A	SPTB	NM_001355436.2(SPTB):c.999_1000del:p.Leu334fs	coding	Pathogenic
14	64800891	C	CT	C64800893T	SPTB	NM_001355436.2(SPTB):c.764-24dup	noncoding	Benign
14	64803496	CT	C	T64803498C	SPTB	NM_001355436.2(SPTB):c.474+110del	noncoding	Benign
14	64804957	C	CA	C64804959A	SPTB	NM_001355436.2(SPTB):c.281dup:p.Leu95fs	coding	Pathogenic
14	65006156	C	CT	G65006174T	MAX	NM_002028.4(FNTB):c.209+1860dup	coding	Benign
14	65006156	C	CTT	G65006174T	MAX	NM_002028.4(FNTB):c.209+1859_209+1860dup	coding	Benign
14	65078001	TTC	T	C65078003G	MAX	NM_002382.5(MAX):c.205_206del:p.Glu69fs	coding	Pathogenic
14	65078034	TG	T	G65078035C	MAX	NM_002382.5(MAX):c.173del:p.Ala58fs	coding	Pathogenic
14	65093787	AG	A	G65093788T	MAX	NM_002382.5(MAX):c.91del:p.Leu31fs	coding	Pathogenic
14	65629829	TACAC	T	C65629855A	FUT8	NM_001371533.1(FUT8):c.597+224AC[12]	noncoding	Benign
14	65629829	TAC	T	C65629857A	FUT8	NM_001371533.1(FUT8):c.597+224AC[13]	noncoding	Benign
14	65629829	T	TAC	A65629859C	FUT8	NM_001371533.1(FUT8):c.597+224AC[15]	noncoding	Benign
14	65629829	T	TACAC	A65629859C	FUT8	NM_001371533.1(FUT8):c.597+224AC[16]	noncoding	Benign
14	65629829	T	TACACAC	A65629859C	FUT8	NM_001371533.1(FUT8):c.597+224AC[17]	noncoding	Benign
14	65721645	CT	C	T65721648G	FUT8	NM_001371533.1(FUT8):c.836-127del	noncoding	Benign
14	66680999	GAA	G	A66681009G	GPHN	NM_020806.5(GPHN):c.65-98_65-97del	noncoding	Benign
14	66680999	GA	G	A66681010G	GPHN	NM_020806.5(GPHN):c.65-97del	noncoding	Benign
14	66923908	AT	A	T66923918A	GPHN	NM_020806.5(GPHN):c.730-276del	noncoding	Benign
14	67059014	GA	G	A67059029G	GPHN	NM_020806.5(GPHN):c.1144+243del	noncoding	Benign
14	67088992	G	GGCGA	T67088998C	GPHN	NM_020806.5(GPHN):c.1156_1159dup:p.Val387fs	coding	Pathogenic
14	67100925	GC	G	C67100927T	GPHN	NM_020806.5(GPHN):c.1293+16del	noncoding	Benign
14	67101191	G	GA	T67101202A	GPHN	NM_020806.5(GPHN):c.1293+290dup	noncoding	Benign
14	67159483	A	AC	A67159486C	GPHN	NM_020806.5(GPHN):c.1907dup:p.Gly637fs	coding	Pathogenic
14	67159597	CA	C	A67159606G	GPHN	NM_020806.5(GPHN):c.1910+118del	noncoding	Benign
14	67165147	C	CTT	C67165155T	GPHN	NM_020806.5(GPHN):c.1911-9_1911-8dup	noncoding	Benign
14	67165448	ATATCAAAGCACATTCCAAATCC	A	T67165473A	GPHN	NM_020806.5(GPHN):c.1975+247_1975+268del	noncoding	Benign
14	67685210	TG	T	G67685215T	RDH11	NM_016026.4(RDH11):c.665-7del	noncoding	Benign
14	67690438	G	GA	T67690441A	RDH11	NM_016026.4(RDH11):c.455-18dup	noncoding	Benign
14	67692549	A	AT	C67692552T	RDH11	NM_016026.4(RDH11):c.237dup:p.Leu80fs	coding	Pathogenic
14	67692556	CT	C	T67692560C	RDH11	NM_016026.4(RDH11):c.230del:p.Lys77fs	coding	Pathogenic
14	67722683	TC	T	C67722685T	RDH12	NM_152443.3(RDH12):c.43del:p.Leu15fs	coding	Pathogenic
14	67722692	TG	T	G67722694T	RDH12	NM_152443.3(RDH12):c.52del:p.Met17_Val18insTer	coding	Pathogenic
14	67724392	GTT	G	T67724408A	RDH12	NM_152443.3(RDH12):c.69-65_69-64del	noncoding	Benign
14	67724392	GTTT	G	T67724407A	RDH12	NM_152443.3(RDH12):c.69-66_69-64del	noncoding	Benign
14	67727027	TG	T	G67727028C	RDH12	NM_152443.3(RDH12):c.496del:p.Ala166fs	coding	Pathogenic
14	67727111	C	CT	A67727113T	RDH12	NM_152443.3(RDH12):c.580dup:p.Tyr194fs	coding	Pathogenic
14	67727373	AG	A	G67727377T	RDH12	NM_152443.3(RDH12):c.658+187del	noncoding	Benign
14	67729311	AG	A	G67729316C	RDH12	NM_152443.3(RDH12):c.784del:p.Ala262fs	coding	Pathogenic
14	67729343	GCT	G	C67729344G	RDH12	NM_152443.3(RDH12):c.812_813del:p.Ala271fs	coding	Pathogenic
14	67752519	TG	T	G67752521A	ZFYVE26	NM_015346.4(ZFYVE26):c.7195del:p.Gln2399fs	coding	Pathogenic
14	67754171	A	AACCTGGTC	T67754182C	ZFYVE26	NM_015346.4(ZFYVE26):c.7020_7027dup:p.Phe2343Ter	coding	Pathogenic
14	67755962	GCAGCTCATACAGAATGTGGTAGTAGTTCTTCTTCTGTAAATGTTGGCAGGCAGCAATCAAGTACTTTCCC	G	A67755969T	ZFYVE26	NM_015346.4(ZFYVE26):c.6702_6771del:p.Trp2234fs	coding	Pathogenic
14	67755976	AT	A	T67755977G	ZFYVE26	NM_015346.4(ZFYVE26):c.6757del:p.Ile2253fs	coding	Pathogenic
14	67756123	AT	A	T67756124A	ZFYVE26	NM_015346.4(ZFYVE26):c.6610del:p.Phe2203_Ile2204insTer	coding	Pathogenic
14	67761516	C	CTT	A67761517T	ZFYVE26	NM_015346.4(ZFYVE26):c.6437_6438insAA:p.Ala2147fs	coding	Pathogenic
14	67761563	TG	T	G67761565C	ZFYVE26	NM_015346.4(ZFYVE26):c.6390del:p.Thr2131fs	coding	Pathogenic
14	67762211	CA	C	A67762214G	ZFYVE26	NM_015346.4(ZFYVE26):c.6360del:p.Phe2120fs	coding	Pathogenic
14	67762718	AG	A	G67762719C	ZFYVE26	NM_015346.4(ZFYVE26):c.6112del:p.Arg2037_Leu2038insTer	coding	Pathogenic
14	67766225	AC	A	C67766227T	ZFYVE26	NM_015346.4(ZFYVE26):c.6011+1del	noncoding	Pathogenic
14	67766318	GC	G	C67766321G	ZFYVE26	NM_015346.4(ZFYVE26):c.5919del:p.Leu1974fs	coding	Pathogenic
14	67766393	CA	C	A67766395T	ZFYVE26	NM_015346.4(ZFYVE26):c.5844del:p.Ile1948fs	coding	Pathogenic
14	67767795	AC	A	C67767797A	ZFYVE26	NM_015346.4(ZFYVE26):c.5698del:p.Val1899_Val1900insTer	coding	Pathogenic
14	67772087	TCA	T	C67772088G	ZFYVE26	NM_015346.4(ZFYVE26):c.5442_5443del:p.Ser1816fs	coding	Pathogenic
14	67772102	A	AC	A67772106C	ZFYVE26	NM_015346.4(ZFYVE26):c.5428dup:p.Val1810fs	coding	Pathogenic
14	67772154	G	GCTGGGTTGGTGGGAAACTCCTT	T67772177C	ZFYVE26	NM_015346.4(ZFYVE26):c.5355_5376dup:p.Pro1793fs	coding	Pathogenic
14	67774931	CAAAA	C	A67774944T	ZFYVE26	NM_015346.4(ZFYVE26):c.5320+81_5320+84del	noncoding	Benign
14	67774931	CAAA	C	A67774945T	ZFYVE26	NM_015346.4(ZFYVE26):c.5320+82_5320+84del	noncoding	Benign
14	67774931	CA	C	A67774947T	ZFYVE26	NM_015346.4(ZFYVE26):c.5320+84del	noncoding	Benign
14	67774931	C	CAA	T67774948A	ZFYVE26	NM_015346.4(ZFYVE26):c.5320+69_5320+70dup	noncoding	Benign
14	67775081	TG	T	G67775083T	ZFYVE26	NM_015346.4(ZFYVE26):c.5254del:p.Gln1752fs	coding	Pathogenic
14	67775969	CA	C	A67775970G	ZFYVE26	NM_015346.4(ZFYVE26):c.5111del:p.Leu1704fs	coding	Pathogenic
14	67776052	T	TA	G67776054A	ZFYVE26	NM_015346.4(ZFYVE26):c.5028dup:p.Asn1677Ter	coding	Pathogenic
14	67778155	C	CT	A67778157T	ZFYVE26	NM_015346.4(ZFYVE26):c.4767dup:p.Glu1590fs	coding	Pathogenic
14	67781517	CA	C	A67781519C	ZFYVE26	NM_015346.4(ZFYVE26):c.4384del:p.Trp1462fs	coding	Pathogenic
14	67783126	GC	G	C67783127G	ZFYVE26	NM_015346.4(ZFYVE26):c.4025del:p.Arg1342fs	coding	Pathogenic
14	67783509	C	CCTAAGTGTGG	A67783511T	ZFYVE26	NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG:p.Ala1215fs	coding	Pathogenic/Likely_pathogenic
14	67784790	CAA	C	A67784792T	ZFYVE26	NM_015346.4(ZFYVE26):c.3523+267_3523+268del	noncoding	Benign
14	67785613	CTG	C	G67785615A	ZFYVE26	NM_015346.4(ZFYVE26):c.3304+243_3304+244del	noncoding	Benign
14	67785979	GA	G	A67785980T	ZFYVE26	NM_015346.4(ZFYVE26):c.3182del:p.Ile1061fs	coding	Pathogenic
14	67786262	C	CAAAAAAAAAAA	T67786275A	ZFYVE26	NM_015346.4(ZFYVE26):c.3020-41_3020-31dup	noncoding	Benign
14	67786262	C	CAAAAAAAAAA	T67786275A	ZFYVE26	NM_015346.4(ZFYVE26):c.3020-41_3020-32dup	noncoding	Benign
14	67786262	C	CAAAAAAAAA	T67786275A	ZFYVE26	NM_015346.4(ZFYVE26):c.3020-41_3020-33dup	noncoding	Benign
14	67786262	C	CAAAAAAAA	T67786275A	ZFYVE26	NM_015346.4(ZFYVE26):c.3020-37_3020-30dup	noncoding	Benign
14	67789558	CA	C	A67789559G	ZFYVE26	NM_015346.4(ZFYVE26):c.2795del:p.Leu932fs	coding	Pathogenic
14	67789561	CT	C	T67789563G	ZFYVE26	NM_015346.4(ZFYVE26):c.2792del:p.Lys931fs	coding	Pathogenic
14	67789576	AG	A	G67789577A	ZFYVE26	NM_015346.4(ZFYVE26):c.2777del:p.Ser926fs	coding	Pathogenic
14	67790693	TTGGATCACTTCCTGGTAGCGCTCCA	T	G67790696A	ZFYVE26	NM_015346.4(ZFYVE26):c.2609_2633del:p.Met870fs	coding	Pathogenic
14	67793702	TG	T	G67793707T	ZFYVE26	NM_015346.4(ZFYVE26):c.2458del:p.His820fs	coding	Pathogenic
14	67797752	TC	T	C67797754T	ZFYVE26	NM_015346.4(ZFYVE26):c.2251del:p.Glu751fs	coding	Pathogenic
14	67798147	A	AG	A67798150G	ZFYVE26	NM_015346.4(ZFYVE26):c.2114dup:p.Pro705_Glu706insTer	coding	Pathogenic
14	67798288	TG	T	G67798291T	ZFYVE26	NM_015346.4(ZFYVE26):c.1973del:p.Pro658fs	coding	Pathogenic
14	67798295	C	CT	G67798297T	ZFYVE26	NM_015346.4(ZFYVE26):c.1966dup:p.Ser656fs	coding	Pathogenic
14	67801935	CAGAT	C	A67801936G	ZFYVE26	NM_015346.4(ZFYVE26):c.1639+140_1639+143del	noncoding	Benign
14	67804181	GT	G	T67804182A	ZFYVE26	NM_015346.4(ZFYVE26):c.1354del:p.Thr452fs	coding	Pathogenic
14	67805233	A	AC	A67805236C	ZFYVE26	NM_015346.4(ZFYVE26):c.1254dup:p.Cys419fs	coding	Pathogenic
14	67806695	GT	G	T67806697A	ZFYVE26	NM_015346.4(ZFYVE26):c.887-21del	noncoding	Benign
14	67809254	CT	C	T67809255C	ZFYVE26	NM_015346.4(ZFYVE26):c.308del:p.Glu103fs	coding	Pathogenic
14	67809405	ACT	A	C67809408T	ZFYVE26	NM_015346.4(ZFYVE26):c.274-118_274-117del	noncoding	Benign
14	67809406	CTCT	C	C67809408T	ZFYVE26	NM_015346.4(ZFYVE26):c.274-120_274-118del	noncoding	Benign
14	67815917	AGCTGCTTCTGC	A	C67815919A	ZFYVE26	NM_015346.4(ZFYVE26):c.36_46del:p.Gln13fs	coding	Pathogenic
14	67835050	G	GA	C67835059A	RAD51B	NM_133510.4(RAD51B):c.199-22dup	noncoding	Benign
14	68477604	AT	A	T68477615C	RAD51B	NM_133510.4(RAD51B):c.1037-33del	noncoding	Benign
14	68879708	CA	C	A68879709G	ACTN1	NM_001130004.2(ACTN1):c.2280+253del	noncoding	Benign
14	68893642	C	CA	G68893643A	ACTN1	NM_001130004.2(ACTN1):c.855+12_855+13insT	noncoding	Benign
14	68925318	C	CTT	A68925342T	ACTN1	NM_001130004.2(ACTN1):c.220+217_220+218dup	noncoding	Benign
14	68925318	CT	C	T68925341A	ACTN1	NM_001130004.2(ACTN1):c.220+239del	noncoding	Benign
14	68925318	CTT	C	T68925340A	ACTN1	NM_001130004.2(ACTN1):c.220+238_220+239del	noncoding	Benign
14	68979141	A	AGGGCT	C68979164G	ACTN1	NM_001130004.2(ACTN1):c.-105AGCCC[5]	noncoding	Benign
14	70030202	C	CT	G70030220T	SMOC1	NM_001034852.3(SMOC1):c.1292-23dup	noncoding	Benign
14	70030202	CT	C	T70030219G	SMOC1	NM_001034852.3(SMOC1):c.1292-23del	noncoding	Benign
14	70030202	CTT	C	T70030218G	SMOC1	NM_001034852.3(SMOC1):c.1292-24_1292-23del	noncoding	Benign
14	72465550	C	CTGGA	T72465602A	RGS6	NM_001204424.2(RGS6):c.395-207TGGA[13]	noncoding	Benign
14	72465550	CTGGA	C	A72465598T	RGS6	NM_001204424.2(RGS6):c.395-207TGGA[11]	noncoding	Benign
14	72465550	CTGGATGGATGGATGGA	C	A72465586T	RGS6	NM_001204424.2(RGS6):c.395-207TGGA[8]	noncoding	Benign
14	72465602	TTGGGTGGA	T	G72465622A	RGS6	NM_001204424.2(RGS6):c.395-155TGGGTGGA[2]	noncoding	Benign
14	72465618	ATGGG	A	G72465622A	RGS6	NM_001204424.2(RGS6):c.395-136_395-133del	noncoding	Benign
14	72465622	G	GTGGA	G72465662A	RGS6	NM_001204424.2(RGS6):c.395-135TGGA[10]	noncoding	Benign
14	72465622	G	GTGGATGGA	G72465662A	RGS6	NM_001204424.2(RGS6):c.395-135TGGA[11]	noncoding	Benign
14	72465622	G	GTGGATGGATGGA	G72465662A	RGS6	NM_001204424.2(RGS6):c.395-135TGGA[12]	noncoding	Benign
14	72474498	G	GA	G72474499A	RGS6	NM_001204424.2(RGS6):c.619-127_619-126insA	noncoding	Benign
14	72510346	CAT	C	A72510347C	RGS6	NM_001204424.2(RGS6):c.1091+68_1091+69del	noncoding	Benign
14	73136373	GC	G	C73136378T	PSEN1	NC_000014.8:g.73603082del	noncoding	Benign
14	73171007	A	AT	A73171010T	PSEN1	NM_000021.4(PSEN1):c.300dup:p.Lys101Ter	coding	Pathogenic
14	73171047	TG	T	G73171048T	PSEN1	NM_000021.4(PSEN1):c.338+1del	coding	Pathogenic
14	73173691	A	AATTTAT	A73173694T	PSEN1	NM_000021.4(PSEN1):c.466_467insTTATAT:p.Lys155_Tyr156insPheIle	coding	Pathogenic
14	73186889	TTGC	T	C73186892T	PSEN1	NM_000021.4(PSEN1):c.520_522del:p.Leu174del	coding	Pathogenic
14	73192632	A	AT	C73192641T	PSEN1	NM_000021.4(PSEN1):c.549-4dup	noncoding	Benign
14	73204757	CTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTTGAGTCTGGCCTGGGCAACGTAGTGAGACCCTGTTTTTAGAAAAAATGAAGATAAAAAACTAATCCATAAACCTCATACTTGGTGGTTGCCCTTCAGTTTTTCTTCTTTAGATCTGGATTTAGTTAAACAGTGTATTGCCTGCCTGGTTTCTGTTAACTTTTGATCATTTGGTTGGGTTATCCTATAATGAAACTTGGTTGACCTCAGAAATAACAAGGTGGTCGTTCAGCTTCTTTGATTGTGTGTTTCTTTCATAAGTTCTTCAAGAAGCCTGAGTATTAGAAACATGGATAAAATTATTGTGATAAAAAGCCAGAGAGACATAAATGTCAAGTATCTTGTTTAAAATTACTGTGACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCACCTCTACTAAAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAATTACTGTGACCAGATTGGACTCAGCTTGCTGCTGGCATTTGGTTCCCACCATAACCTCATATGTCATGTGTTTGCTTATATGTACTTTTGTGTTATTGTTGGTGTATCTTCAGGATAAGTTCCAAAATGTAATATTGCTGGGTTAAAGGATTAATGCACATGTAGTTTTATTAGATGTTACCAAATTTCCCTCCAGTGGGGATTATACCATTTTTCATTCCTGCCTGAAATATATGAGAGAAGCACCATTTTAAAGTTTTCACAATGTCTCTGAACTAAAATGTGGTAGAGATGCACATGTGTATATCTAGATCTAGATTGATATATTGATATACATGTATTTTTGTAGAAGGGGCACAGAGGAGGCCTCTTGACTATCCCTATTATGTTTATTGCTTTTAACGTTTTTTCTCACGCCGGGTTTAAAACATGGTTTAGCATTATTGAACATTCTAAAAATGAGACATAATATGAAGGAAATTTACTCTGTGCATCTTTTGAATTATAATCACCATCTGAGGCTTTTGTGAGCTCCAGTTTGTCCTGGAATTTAGAACATTCAACTAGTCCAGCTATTGTTTCAGTGGAATCTTGCTGGCCTGAACAGTTTTCCTTCTGGTTCCTTTTCAGGGACTAAAAATGATGAAGAGTTTTGTGATAGCAGGTGCAGTTTGAGTACTACAGTAAACATTCAGTTTCAGAACTTCTTCTCTTACCTGCTAAAACCAAAGAGAACCTTTTTTTTATTTTTACTTCTGATTGTTGAACAGTCTTAAGGCAGCATTAGGAAGACTGGCGATTTGTGTGGAGAAATGATGGCTTGTTGTTGTCTATGCATACTTTGTGTGTCCAGTGCTTACCTGGAATTTTGTCTTTCCCAACAGCAACAATGGTGTGGTTGGTGAATATGGCAGAAGGAGACCCGGAAGCTCAAAGGAGAGTATCCAAAAATTCCAAGTATAATGCAGAAAGTAGGTAACTTTTATTAGATAATATCTTGATTTTTCAGGGTCACTGTTATAAGCTAACAGTATAGCAATGTTTTTATCGTCTTTCTTTGGTCATAGACTCCTTTGAGAATCTCTTGAGAACTATGATAATGCCCAGTAAATACACAGATAAGTATTTAAGGAGTTCAGATACTCAAAACCCAACAATACAGTCAAAGCATCCTAGGTTAAGACACCTCCCATTAAATACAGAATACCAGCATGGAAAGGTTCAGGCTGAGGTTATGATTTTGTTTTTGTTTTTTGTTTGTTTTTTATAAGTCATGATTTTAAAAAGAAAAAATAAACTCTCTCCAAACATGTAAAAGTAAGAATCTCCTAAAAGAAACAAAAAAGAAACAGACAATAAAGGAAAAATAAGTAAACAAAAAAAGCAAAATATAAACAACATAAAAATGAGAACCTCTTGTCTAACATGGCCAGAATAACTGAAATATGATTTGAGATGTGCTGATGTGTATACTGAGAAGATCAAATATTCTAGGTGGATATGACTTTTTAGAAGAGGATAAGAATGACTTAGGATGAGCTGGGTGCAGTGATGTGTGCCTGTAGTCCCAGCTACATGGCCAAGGCAAGAGGATCACTTGAGCTAAGGAGTTCCGGATTACCCTGGGCAACTTATACCTTACCTCAAAAATAATAATAATAATGAATAATAATAATGACTTAGGATAAGAGAGTGAAAGGCCCTCTAAGGATACTACAGAACATATTAAGGAGAACACAAGTTAGAAGTTGTTATTAGATGGAGTTGAGGGGGAGCTTTCATTCAGTTTTCTGGAATGGAGGCTACCTTCCCACACACACTAAAAAAAAAAAGAAAGGGTTGAGGAATAACAGCACAATATAAATAGTCTAAAAAAAGGGCTAACTTTTATGAGGAATCTGAAAAACAACAGGCACAGTAAATATTGGTGAGGAAAAAAAGGCCTTAATTGAGTTGCTGTTTGTCAGGAAAGGGAGAGTTTATGTTTTATAAAGCCAGGAAATCTACAGAGTTAGCATTTAGGCAACTGCAAGGAAGATACTTTCAACCAGGAATTCCTATTTGGAACTCAGAGATGTGAGTCTTTATTATACAGTAAGCAAGGCAGCAGAACAAGGTCATGTTAGACTCTCACGGGATCCTTAGGGTGTGACTTTGCTAGCCAGAAACCTCTGTGGCTGGTGGCACCTTTTCCTGAGATTTGCTCAGGCCCACTGGGCTCATTCCACCTACTCAGCCTAGCTGGCTATGCTTGGCTTTCTCTACCAGCTGGACCCCATGCCTGCCAAAGGCAAGCCAGGCATGGAGCAGCGAGGAGTGCATGAGCAAGTGAGTGCAGGGTCCAGCCACTGCACACAGCCAGGCATGCTGGCTGCAGCAGGGCAGGCAGCCTCAGGTACTAGCTCCCTGCTGCAGCTAGACCAGGCATTACCTAAGCAGCTTTGACTACAGGCCACTACCACTAGTAAACCTGATAGAAAAGTAAGAAATATACTGGAAAGAATTGCCACAAGCCTGGCTCTTGTGTTAACCTTGTGTTAACCTGGGGAACACAGGGGCACCCAGAAGCTTGGAGATGCCAGGAACTGCAGAACCCCAAAGAGGGGGGTCATAGCCCTGGCTTAGGGAACTCCTGAGTCTGGACTCCCCGAAGGGCCACATCTCTTCACTCCTCTCTTCTCTCCTTCTCGCCACCTGCAACGTGGCAAGTGGGGGGCACGTTTCAGCCCTGTTTGTCTTACGGTTCTTTCAATCCTGCCATTCAATGGGTCCCAAGTTCTTGTCCTGCATCCAGGAAGAATGAAGTACGTGGACAGCTGGAGGGAGAGCAAGATGAAAAGGTGCTTTATTGAGCAACAGTACAGCTCTCAGGAGACCCTATCTGCAGGCAGGTCGTCCCATTGTCTCTGCAGCTCTCAGTGGAGAGGAGACCTGGAGTGGGTAGCTCCTGTCTGCAGGCAGGTCATCCTGATGTCTGTAATCCTCAGTGGAGAGGAGACCCGGAATGGGTATCTCCTATCCACAAGCAGGTCATCCCATCATCTCTGCAGCCCTCAGTGGAGAGGAGACCCGGAGTGGGTAGCTTCTTTCTGCAGGCAGGTTGTCCCTTCATCTGCCCAAGTCTGACTGAGTCTGGGGTTTTTATGGGCTTCAGAGGGGAGGAAGTACATGCTGATGGGTCCATGGGTGGCCATGAGCAGGCCCAGAAAATGCACCATAAGTTCTCACTGTGGTCTGTGGAACTGGGAGCTTGGCCTCCAGGCTTCAGGCTTTCCCTGACTTGAGGTGGTGCTTCACCAGGGAACTTCCCCTTTCCGCCTAGGAGCCTGTCTGCCTCCTGCTGCCATCAACCTGCTGTCTATAGCTCCCATGGCACCCAGGCTGTTCATGCCAAAGGGTGCCTGCAGGCCCACGGTAAGCTGCCTTCAGCCCCTCCTCAGTCTCCCTCCCATGCTTGTCAGCACCCAAAGTCCAGAGGGGGCCAAGGTGGCAGGGGGCTGGCATGTCAGTGCTGCCCCAAGCGCCCGCACACCCGGCCAGGTCATGACAGCACCCAGCCTCAGCCACAACTTTGCTCTGAAATCGGAGCCTGCAGACGCAAGGGGCTTCCTGGACCCCTGAGAGCACAGGGATGCCCAGGTCTACAGCCACAGCTGGGAAGCTGCAGCTGTGGGAGTGCGGGACTTCTGCCCCACCAACTCAGAAGGGGGCAGGACTCCCGCCTGTTCCTGGCTCCTGCCAGCTCACAGAGCATGCTGCCCCAGCTGCACCTCCCCTGCTGCAGCTGCCATCTTTGCAGCAGCCACTCCAGA	C	T73204762C	PSEN1	NM_000021.4(PSEN1):c.869-1624_956-2452del	noncoding	Pathogenic
14	73219201	TCAC	T	A73219203T	PSEN1	NM_000021.4(PSEN1):c.1318_1320del:p.Thr440del	coding	Pathogenic
14	73654828	CT	C	T73654842A	DNAL1	NM_031427.4(DNAL1):c.4-5del	noncoding	Benign
14	73949700	TTTCTC	T	C73949705A	COQ6	NM_152445.3(FAM161B):c.54+268_54+272del	noncoding	Benign
14	73953423	TC	T	C73953424T	COQ6	NM_182476.3(COQ6):c.164-11del	noncoding	Benign
14	73953821	ATGT	A	T73953825G	COQ6	NM_182476.3(COQ6):c.298+256_298+258del	noncoding	Benign
14	73955934	GC	G	C73955939A	COQ6	NM_182476.3(COQ6):c.481+11del	noncoding	Benign
14	73959418	TCA	T	C73959419G	COQ6	NM_182476.3(COQ6):c.788_789del:p.Leu262_Ser263insTer	coding	Pathogenic
14	73959433	TC	T	C73959435T	COQ6	NM_182476.3(COQ6):c.804del:p.Leu269fs	coding	Pathogenic
14	73959508	GT	G	T73959510A	COQ6	NM_182476.3(COQ6):c.879del:p.Asn294fs	coding	Pathogenic
14	73961512	GGA	G	G73961513T	COQ6	NM_182476.3(COQ6):c.1153_1154del:p.Asp385fs	coding	Pathogenic/Likely_pathogenic
14	73962706	TTA	T	T73962709G	COQ6	NM_182476.3(COQ6):c.1378-261_1378-260del	noncoding	Benign
14	74072618	AAAAC	A	C74072642A	ALDH6A1	NM_005589.4(ALDH6A1):c.112-31GTTT[5]	noncoding	Benign/Likely_benign
14	74239610	G	GTA	G74239612A	VSX2	NM_182894.3(VSX2):c.50_51insAT:p.Ala18fs	coding	Pathogenic
14	74239619	AG	A	G74239620T	VSX2	NM_182894.3(VSX2):c.59del:p.Ser20fs	coding	Pathogenic
14	74239643	AG	A	G74239645T	VSX2	NM_182894.3(VSX2):c.84del:p.Arg28fs	coding	Pathogenic
14	74239739	C	CA	C74239741A	VSX2	NM_182894.3(VSX2):c.179dup:p.His60fs	coding	Pathogenic
14	74239783	CG	C	G74239785C	VSX2	NM_182894.3(VSX2):c.224del:p.Gly75fs	coding	Pathogenic
14	74244881	AGT	A	T74244929A	VSX2	NM_182894.3(VSX2):c.456-283GT[23]	noncoding	Benign
14	74244881	AGTGT	A	T74244927A	VSX2	NM_182894.3(VSX2):c.456-283GT[22]	noncoding	Benign
14	74244881	AGTGTGT	A	T74244925A	VSX2	NM_182894.3(VSX2):c.456-283GT[21]	noncoding	Benign
14	74244881	AGTGTGTGT	A	T74244923A	VSX2	NM_182894.3(VSX2):c.456-283GT[20]	noncoding	Benign
14	74244945	AGT	A	T74244981A	VSX2	NM_182894.3(VSX2):c.456-219GT[17]	noncoding	Benign
14	74244945	AGTGTGT	A	T74244977A	VSX2	NM_182894.3(VSX2):c.456-219GT[15]	noncoding	Benign
14	74244945	AGTGTGTGT	A	T74244975A	VSX2	NM_182894.3(VSX2):c.456-219GT[14]	noncoding	Benign
14	74244973	TGTGTGTGTGA	T	T74244975A	VSX2	NM_182894.3(VSX2):c.456-190_456-181del	noncoding	Benign
14	74244981	TGA	T	G74245006C	VSX2	NM_182894.3(VSX2):c.456-183GA[12]	noncoding	Benign
14	74245002	G	GAC	G74245004C	VSX2	NM_182894.3(VSX2):c.456-162_456-161insCA	noncoding	Benign
14	74245006	GAC	G	C74245008G	VSX2	NM_182894.3(VSX2):c.456-157_456-156del	noncoding	Benign
14	74245024	G	GAC	G74245026C	VSX2	NM_182894.3(VSX2):c.456-140_456-139insCA	noncoding	Benign
14	74259812	G	GC	T74259816C	VSX2	NM_182894.3(VSX2):c.760+33dup	noncoding	Benign
14	74287635	TA	T	A74287637C	ABCD4	NM_005050.4(ABCD4):c.1636+174del	noncoding	Benign
14	74289165	T	TG	C74289167G	ABCD4	NM_005050.4(ABCD4):c.1456+317dup	noncoding	Benign
14	74289414	CCA	C	C74289417G	ABCD4	NM_005050.4(ABCD4):c.1456+67_1456+68del	noncoding	Benign
14	74290323	CG	C	G74290325A	ABCD4	NM_005050.4(ABCD4):c.1294del:p.Arg432fs	coding	Pathogenic
14	74290492	CT	C	T74290493G	ABCD4	NM_005050.4(ABCD4):c.1125del:p.Trp377fs	coding	Pathogenic
14	74292087	C	CG	A74292092G	ABCD4	NM_005050.4(ABCD4):c.1118+196dup	noncoding	Benign
14	74484496	C	CT	A74484499T	NPC2	NM_006432.5(NPC2):c.281dup:p.Ser95fs	coding	Pathogenic
14	74484498	T	TA	C74484500A	NPC2	NM_006432.5(NPC2):c.279dup:p.Lys94Ter	coding	Pathogenic
14	74484594	G	GA	G74484602A	NPC2	NM_006432.5(NPC2):c.191-14dup	noncoding	Benign
14	74484773	A	AC	A74484774C	NPC2	NM_006432.5(NPC2):c.191-187_191-186insG	noncoding	Benign
14	74493665	TGG	T	G74493671C	NPC2	Single_allele	noncoding	Benign
14	74501765	G	GA	G74501775A	LTBP2	NM_000428.3(LTBP2):c.5171-184dup	noncoding	Benign
14	74503745	G	GC	T74503749C	LTBP2	NM_000428.3(LTBP2):c.4583-142dup	noncoding	Benign
14	74504947	TGACCCTTCGAG	T	C74504950T	LTBP2	NM_000428.3(LTBP2):c.4369+25_4369+35del	noncoding	Benign
14	74506699	C	CA	C74506701A	LTBP2	NM_000428.3(LTBP2):c.4031dup:p.Asp1345fs	coding	Pathogenic
14	74506853	A	ATG	C74506880T	LTBP2	NM_000428.3(LTBP2):c.3908-56CA[14]	noncoding	Benign
14	74506853	ATG	A	T74506878C	LTBP2	NM_000428.3(LTBP2):c.3908-56CA[12]	noncoding	Benign
14	74506878	TGC	T	C74506888T	LTBP2	NM_000428.3(LTBP2):c.3908-65GC[4]	noncoding	Benign
14	74506880	C	CGCGCGCAT	G74506887A	LTBP2	NM_000428.3(LTBP2):c.3908-58_3908-57insGCGCGCAT	noncoding	Benign
14	74506880	C	CGCGCGT	C74506886T	LTBP2	NM_000428.3(LTBP2):c.3908-58_3908-57insCGCGCA	noncoding	Benign
14	74506880	C	CGCGT	C74506884T	LTBP2	NM_000428.3(LTBP2):c.3908-58_3908-57insCGCA	noncoding	Benign
14	74506880	C	CGT	C74506882T	LTBP2	NM_000428.3(LTBP2):c.3908-58_3908-57insCA	noncoding	Benign
14	74507228	AAC	A	C74507232G	LTBP2	NM_000428.3(LTBP2):c.3856_3857del:p.Val1286fs	coding	Pathogenic
14	74508263	G	GGGGGTGA	T74508280G	LTBP2	NM_000428.3(LTBP2):c.3653-182TCACCCC[3]	noncoding	Benign
14	74511341	CG	C	G74511345T	LTBP2	NM_000428.3(LTBP2):c.2931del:p.Gly978fs	coding	Pathogenic
14	74516788	GT	G	T74516789G	LTBP2	NM_000428.3(LTBP2):c.2908+33del	noncoding	Benign
14	74528523	GA	G	A74528524C	LTBP2	NM_000428.3(LTBP2):c.2327del:p.Val776fs	coding	Pathogenic
14	74552039	GC	G	C74552040G	LTBP2	NM_000428.3(LTBP2):c.1399+147del	noncoding	Benign
14	74552720	TAG	T	A74552723T	LTBP2	NM_000428.3(LTBP2):c.1192+170_1192+171del	noncoding	Benign
14	74552975	GCA	G	C74552978G	LTBP2	NM_000428.3(LTBP2):c.1107_1108del:p.Ala370fs	coding	Pathogenic
14	74555551	CT	C	T74555552C	LTBP2	NM_000428.3(LTBP2):c.972del:p.Asp325fs	coding	Pathogenic
14	74585939	TC	T	C74585941T	LTBP2	NM_000428.3(LTBP2):c.744del:p.Ser249fs	coding	Pathogenic
14	75039759	AAC	A	A75039786G	MLH3	NM_001040108.2(MLH3):c.3570+124GT[13]	noncoding	Benign
14	75039759	AACAC	A	A75039784G	MLH3	NM_001040108.2(MLH3):c.3570+124GT[12]	noncoding	Benign
14	75039846	CATATATATATATATATAT	C	A75039865T	MLH3	NM_001040108.2(MLH3):c.3570+29AT[9]	noncoding	Benign
14	75039846	CATATATATATATATAT	C	A75039867T	MLH3	NM_001040108.2(MLH3):c.3570+29AT[10]	noncoding	Benign
14	75039846	C	CATATATAT	T75039883A	MLH3	NM_001040108.2(MLH3):c.3570+29AT[22]	noncoding	Benign
14	75039846	C	CATATAT	T75039883A	MLH3	NM_001040108.2(MLH3):c.3570+29AT[21]	noncoding	Benign
14	75039882	T	TA	T75039883A	MLH3	NM_001040108.2(MLH3):c.3570+28_3570+29insT	noncoding	Benign
14	75040188	ACCTGTAATCTCAG	A	C75040190A	MLH3	NM_001040108.2(MLH3):c.3466-186_3466-174del	noncoding	Benign
14	75041562	TAAG	T	G75041577A	MLH3	NM_001040108.2(MLH3):c.3465+38CTT[4]	noncoding	Benign
14	75041577	GA	G	A75041587G	MLH3	NM_001040108.2(MLH3):c.3465+37del	noncoding	Benign
14	75046273	TTCTA	T	A75046277G	MLH3	NM_001040108.2(MLH3):c.3280+99_3280+102del	noncoding	Benign
14	75046867	GT	G	T75046873C	MLH3	NM_001040108.2(MLH3):c.2788del:p.Thr930fs	coding	Pathogenic
14	75106361	GA	G	A75106385G	NEK9	NM_033116.6(NEK9):c.1528+140del	noncoding	Benign
14	75109956	GAGA	G	G75109961C	NEK9	NM_033116.6(NEK9):c.990-82_990-80del	noncoding	Benign
14	75683542	GC	G	C75683545T	TTLL5	NM_015072.5(TTLL5):c.265-5del	noncoding	Benign
14	75683648	CTT	C	T75683650C	TTLL5	NM_015072.5(TTLL5):c.365_366del:p.Phe122fs	coding	Pathogenic
14	75707060	T	TA	C75707062A	TTLL5	NM_015072.5(TTLL5):c.629dup:p.Tyr210Ter	coding	Pathogenic
14	75707609	C	CT	A75707621T	TTLL5	NM_015072.5(TTLL5):c.656-3dup	noncoding	Benign
14	75707609	CT	C	T75707620A	TTLL5	NM_015072.5(TTLL5):c.656-3del	noncoding	Benign
14	75707609	CTTT	C	T75707618A	TTLL5	NM_015072.5(TTLL5):c.656-5_656-3del	noncoding	Benign
14	75732475	CT	C	T75732487G	TTLL5	NM_015072.5(TTLL5):c.1124+68del	noncoding	Benign
14	75734049	AG	A	G75734051T	TTLL5	NM_015072.5(TTLL5):c.1186+1del	coding	Pathogenic
14	75735248	AC	A	C75735250T	TTLL5	NM_015072.5(TTLL5):c.1242del:p.Phe415fs	coding	Pathogenic
14	75735255	AG	A	G75735256T	TTLL5	NM_015072.5(TTLL5):c.1248del:p.Glu416fs	coding	Pathogenic
14	75745595	C	CT	A75745606T	TTLL5	NM_015072.5(TTLL5):c.1487+24dup	noncoding	Benign
14	75771911	AT	A	T75771926C	TTLL5	NM_015072.5(TTLL5):c.2136+72del	noncoding	Benign
14	75776751	CAG	C	G75776753A	TTLL5	NM_015072.5(TTLL5):c.2290_2291del:p.Glu764fs	coding	Pathogenic
14	75779598	TG	T	G75779599A	TTLL5	NM_015072.5(TTLL5):c.2412del:p.Thr805fs	coding	Pathogenic
14	75783182	GT	G	T75783185A	TTLL5	NM_015072.5(TTLL5):c.2641del:p.Tyr881fs	coding	Pathogenic
14	75783428	C	CG	C75783430G	TTLL5	NM_015072.5(TTLL5):c.2885dup:p.Cys963fs	coding	Pathogenic
14	75863679	A	AG	A75863685G	TTLL5	NM_015072.5(TTLL5):c.3344dup:p.Phe1116fs	coding	Pathogenic
14	75863849	GAGCCCGGCAC	G	A75863850C	TTLL5	NM_015072.5(TTLL5):c.3510_3519del:p.Ala1171fs	coding	Pathogenic
14	75863935	G	GAAAAAAAA	G75863936A	TTLL5	NM_015072.5(TTLL5):c.3522+73_3522+74insAAAAAAAA	noncoding	Benign
14	75863936	G	GA	T75863937A	TTLL5	NM_015072.5(TTLL5):c.3522+74_3522+75insA	noncoding	Benign
14	75882670	C	CT	G75882681T	TTLL5	NM_015072.5(TTLL5):c.3523-5dup	noncoding	Benign
14	75882670	CT	C	T75882680G	TTLL5	NM_015072.5(TTLL5):c.3523-5del	noncoding	Benign
14	75882713	AC	A	C75882714T	TTLL5	NM_015072.5(TTLL5):c.3552del:p.Ser1185fs	coding	Pathogenic
14	75882739	G	GGTGCA	G75882746T	TTLL5	NM_015072.5(TTLL5):c.3579_3583dup:p.Gly1195fs	coding	Pathogenic
14	75958704	TA	T	A75958720T	TGFB3	NM_003239.5(TGFB3):c.*482del	noncoding	Benign
14	75961083	C	CA	C75961090A	TGFB3	NM_003239.5(TGFB3):c.927-13dup	noncoding	Benign
14	75965618	TG	T	G75965619T	TGFB3	NM_003239.5(TGFB3):c.723del:p.Asn241fs	coding	Pathogenic
14	75965774	GC	G	C75965776A	TGFB3	NM_003239.5(TGFB3):c.647-80del	noncoding	Benign
14	75971147	GCA	G	C75971150G	TGFB3	NM_003239.5(TGFB3):c.623_624del:p.Val208fs	coding	Pathogenic
14	75971150	CA	C	A75971151G	TGFB3	NM_003239.5(TGFB3):c.621del:p.Val208fs	coding	Pathogenic
14	75971634	AG	A	G75971636T	TGFB3	NM_003239.5(TGFB3):c.436del:p.Leu146fs	coding	Pathogenic
14	75971659	AG	A	G75971661A	TGFB3	NM_003239.5(TGFB3):c.411del:p.Ser138fs	coding	Pathogenic
14	75971715	TC	T	C75971716G	TGFB3	NM_003239.5(TGFB3):c.355del:p.Glu119fs	coding	Pathogenic
14	75980723	A	AG	C75980730G	TGFB3	NM_003239.5(TGFB3):c.170dup:p.Pro57_Glu58insTer	coding	Pathogenic
14	75988986	TA	T	A75988995G	IFT43	NM_001102564.3(IFT43):c.147+18del	noncoding	Benign
14	76022353	CC	AT	C76022353A	IFT43	NM_001102564.3(IFT43):c.174_175delinsAT:p.Cys58_Arg59delinsTer	coding	Pathogenic
14	76058627	CT	C	T76058638C	IFT43	NM_001102564.3(IFT43):c.216-4del	noncoding	Benign
14	76076645	C	CA	C76076650A	IFT43	NM_001102564.3(IFT43):c.296-5646dup	coding	Pathogenic
14	76076683	A	ACTCAC	A76076684C	IFT43	NM_001102564.3(IFT43):c.296-5612_296-5611insCTCAC	coding	Pathogenic
14	76082338	CT	C	T76082341G	IFT43	NM_001102564.3(IFT43):c.342del:p.Phe114fs	coding	Pathogenic
14	76082440	GGACCTT	G	C76082443T	IFT43	NM_001102564.3(IFT43):c.368+76_368+81del	noncoding	Benign
14	76481919	C	CT	G76481921T	ESRRB	NM_001379180.1(ESRRB):c.578-96dup	noncoding	Benign
14	76491675	A	AGGAGTTT	T76491684G	ESRRB	NM_001379180.1(ESRRB):c.1081_1087dup:p.Val363fs	coding	Pathogenic
14	76497948	A	AAC	G76497950C	ESRRB	NM_001379180.1(ESRRB):c.1121-265_1121-264insCA	noncoding	Benign
14	77025654	GA	G	A77025655G	IRF2BPL	NM_024496.4(IRF2BPL):c.2138del:p.Leu713fs	coding	Pathogenic
14	77025670	GC	G	C77025672A	IRF2BPL	NM_024496.4(IRF2BPL):c.2122del:p.Ala708fs	coding	Pathogenic/Likely_pathogenic
14	77026086	C	CCACT	G77026091C	IRF2BPL	NM_024496.4(IRF2BPL):c.1703_1706dup:p.Trp569Ter	coding	Pathogenic
14	77027249	TTCCCAGGCTCACCGGCGGTGGCGGGTAC	T	C77027252G	IRF2BPL	NM_024496.4(IRF2BPL):c.516_543del:p.Tyr173fs	coding	Pathogenic
14	77027304	AGCG	A	G77027331A	IRF2BPL	NM_024496.4(IRF2BPL):c.462CGC[8]:p.Ala164del	coding	Benign
14	77027304	AGCGGCGGCG	A	G77027325A	IRF2BPL	NM_024496.4(IRF2BPL):c.462CGC[6]:p.Ala162_Ala164del	coding	Benign/Likely_benign
14	77027343	GC	G	C77027345G	IRF2BPL	NM_024496.4(IRF2BPL):c.449del:p.Gly150fs	coding	Pathogenic
14	77027418	TTGC	T	C77027448T	IRF2BPL	NM_024496.4(IRF2BPL):c.345GCA[9]:p.Gln127del	coding	Benign
14	77027418	TTGCTGC	T	C77027445T	IRF2BPL	NM_024496.4(IRF2BPL):c.345GCA[8]:p.Gln126_Gln127del	coding	Benign
14	77027418	TTGCTGCTGCTGC	T	C77027439T	IRF2BPL	NM_024496.4(IRF2BPL):c.345GCA[6]:p.Gln124_Gln127del	coding	Benign
14	77027446	TGCTGTTGCTGC	T	G77027447T	IRF2BPL	NM_024496.4(IRF2BPL):c.336_346del:p.Gln113fs	coding	Benign/Likely_benign
14	77027448	CTGT	C	T77027451C	IRF2BPL	NM_024496.4(IRF2BPL):c.342_344del:p.Gln127del	coding	Benign
14	77027466	CTGCTGT	C	T77027482G	IRF2BPL	NM_024496.4(IRF2BPL):c.309ACAGCA[2]:p.Gln126_Gln127del	coding	Benign
14	77027469	CTGT	C	T77027472C	IRF2BPL	NM_024496.4(IRF2BPL):c.321_323del:p.Gln127del	coding	Benign
14	77027470	TGTTGCTGTTGCTGTTGCGCGGCGGCGGCGGCG	T	T77027472C	IRF2BPL	NM_024496.4(IRF2BPL):c.291_322del:p.Gln103fs	coding	Pathogenic
14	77027473	TGCTGTTGCTGTTGCGCGGCGGCGGCGGCGGCC	T	T77027476C	IRF2BPL	NM_024496.4(IRF2BPL):c.288_319del:p.Ala97fs	coding	Pathogenic
14	77242927	CT	C	T77242931G	TMEM63C	NM_020431.4(TMEM63C):c.1216del:p.Trp406fs	coding	Pathogenic
14	77246644	A	AC	T77246646C	TMEM63C	NM_020431.4(TMEM63C):c.1572dup:p.Tyr525fs	coding	Pathogenic
14	77248386	CTACGTGATCACGGCA	GGC	C77248386G	TMEM63C	NM_020431.4(TMEM63C):c.1641_1656delinsGGC:p.Asn547fs	coding	Pathogenic
14	77280704	G	GGGAAAGA	T77280717G	POMT2	NM_013382.7(POMT2):c.1654-248_1654-242dup	noncoding	Benign
14	77286775	CG	C	G77286778T	POMT2	NM_013382.7(POMT2):c.1300del:p.Arg434fs	coding	Pathogenic
14	77296244	TCA	T	C77296247G	POMT2	NM_013382.7(POMT2):c.1034_1035del:p.Val345fs	coding	Pathogenic
14	77296601	G	GGAA	T77296606A	POMT2	NM_013382.7(POMT2):c.1007-331_1007-329dup	noncoding	Benign
14	77299497	TAG	T	A77299502C	POMT2	NM_013382.7(POMT2):c.879_880del:p.Thr295fs	coding	Pathogenic
14	77300819	C	CAA	G77300834A	POMT2	NM_013382.7(POMT2):c.816+257_816+258dup	noncoding	Benign
14	77300819	C	CA	G77300834A	POMT2	NM_013382.7(POMT2):c.816+257dup	noncoding	Benign
14	77302692	T	TA	C77302700A	POMT2	NM_013382.7(POMT2):c.656+136dup	noncoding	Benign
14	77429460	G	GC	T77429461C	VIPAS39	NM_001193315.2(VIPAS39):c.1266+220_1266+221insG	noncoding	Benign
14	77429462	AG	A	G77429463A	VIPAS39	NM_001193315.2(VIPAS39):c.1266+218del	noncoding	Benign
14	77429464	A	ACACAGCTCTC	T77429465C	VIPAS39	NM_001193315.2(VIPAS39):c.1266+216_1266+217insGAGAGCTGTG	noncoding	Benign
14	77435415	G	GAAAA	C77435430A	VIPAS39	NM_001193315.2(VIPAS39):c.913-36_913-33dup	noncoding	Benign
14	77435415	G	GAAA	C77435430A	VIPAS39	NM_001193315.2(VIPAS39):c.913-36_913-34dup	noncoding	Benign
14	77435415	G	GAA	C77435430A	VIPAS39	NM_001193315.2(VIPAS39):c.913-36_913-35dup	noncoding	Benign
14	77435415	G	GA	C77435430A	VIPAS39	NM_001193315.2(VIPAS39):c.913-36dup	noncoding	Benign
14	77441372	GT	G	T77441383C	VIPAS39	NM_001193315.2(VIPAS39):c.735-280del	noncoding	Benign
14	77442979	TGCTCTGAAGTCTCAG	T	T77442982C	VIPAS39	NM_001193315.2(VIPAS39):c.631+125_631+139del	noncoding	Benign
14	77444041	C	CAAA	C77444057A	VIPAS39	NM_001193315.2(VIPAS39):c.597+193_597+195dup	noncoding	Benign
14	77444041	C	CA	C77444057A	VIPAS39	NM_001193315.2(VIPAS39):c.597+193dup	noncoding	Benign
14	77453316	CTC	TTT	C77453316T	VIPAS39	NM_001193315.2(VIPAS39):c.177_179delinsAAA:p.Trp59_Ser60delinsTer	coding	Pathogenic
14	77517739	CAG	C	G77517741A	SPTLC2	NM_004863.4(SPTLC2):c.1569+297_1569+298del	noncoding	Benign
14	77556728	ATTTGT	A	T77556733A	SPTLC2	NM_004863.4(SPTLC2):c.956+308_956+312del	noncoding	Benign
14	77597480	AT	A	T77597484C	SPTLC2	NM_004863.4(SPTLC2):c.133-101del	noncoding	Benign
14	81096923	G	GGTGT	A81096954G	TSHR	NM_000369.5(TSHR):c.614+217GT[17]	noncoding	Benign
14	81143275	ACCCGTGTGAAGACATAA	CACG	A81143275C	TSHR	NM_000369.5(TSHR):c.1217_1234delinsCACG:p.Asn406fs	coding	Pathogenic
14	81144019	TCA	T	A81144021T	TSHR	NM_000369.5(TSHR):c.1963_1964del:p.Thr655fs	coding	Pathogenic
14	87934749	CAAGA	C	A87934753T	GALC	NM_000153.4(GALC):c.2037_2040del:p.Phe679fs	coding	Pathogenic
14	87934752	G	GA	G87934756A	GALC	NM_000153.4(GALC):c.2037dup:p.Leu680fs	coding	Pathogenic
14	87934760	TC	T	C87934761A	GALC	NM_000153.4(GALC):c.2029del:p.Asp677fs	coding	Pathogenic
14	87934825	AG	A	G87934828A	GALC	NM_000153.4(GALC):c.1964del:p.Pro655fs	coding	Pathogenic
14	87939918	G	GT	G87939920T	GALC	NM_000153.4(GALC):c.1897dup:p.Thr633fs	coding	Pathogenic/Likely_pathogenic
14	87939931	A	AT	G87939939T	GALC	NM_000153.4(GALC):c.1884dup:p.Trp629fs	coding	Pathogenic/Likely_pathogenic
14	87939931	AT	A	T87939938G	GALC	NM_000153.4(GALC):c.1884del:p.Lys628fs	coding	Pathogenic
14	87939962	AG	A	G87939963C	GALC	NM_000153.4(GALC):c.1853del:p.Ala618fs	coding	Pathogenic
14	87939964	CA	C	A87939965T	GALC	NM_000153.4(GALC):c.1851del:p.Ile616_Tyr617insTer	coding	Pathogenic/Likely_pathogenic
14	87941372	T	TA	G87941386A	GALC	NM_000153.3(GALC):c.1834+22dup	noncoding	Benign/Likely_benign
14	87941407	T	TA	C87941410A	GALC	NM_000153.4(GALC):c.1821dup:p.Thr608fs	coding	Pathogenic
14	87941413	T	TG	T87941415G	GALC	NM_000153.4(GALC):c.1815dup:p.Arg606fs	coding	Pathogenic
14	87941465	CAA	C	A87941468T	GALC	NM_000153.4(GALC):c.1762_1763del:p.Leu588fs	coding	Pathogenic
14	87941489	TCCTG	T	C87941491A	GALC	NM_000153.4(GALC):c.1736_1739del:p.Ala579fs	coding	Pathogenic
14	87941505	C	CA	C87941506A	GALC	NM_000153.4(GALC):c.1723_1724insT:p.Gly575fs	coding	Pathogenic
14	87941516	A	AG	T87941521G	GALC	NM_000153.4(GALC):c.1712dup:p.Pro571_Asp572insTer	coding	Pathogenic/Likely_pathogenic
14	87945574	C	CT	G87945576T	GALC	NM_000153.4(GALC):c.1648dup:p.Ser550fs	coding	Pathogenic
14	87945691	GT	G	T87945694G	GALC	NM_000153.4(GALC):c.1531del:p.Thr511fs	coding	Pathogenic
14	87947751	G	GT	A87947753T	GALC	NM_000153.4(GALC):c.1465dup:p.Thr489fs	coding	Pathogenic
14	87947783	CG	C	G87947786T	GALC	NM_000153.4(GALC):c.1433del:p.Pro478fs	coding	Pathogenic
14	87947784	GGGTAGCTGCCTTTGCGACCAGT	G	A87947788G	GALC	NM_000153.4(GALC):c.1411_1432del:p.Thr471fs	coding	Pathogenic
14	87947848	TCA	T	C87947849G	GALC	NM_000153.4(GALC):c.1367_1368del:p.Leu456fs	coding	Pathogenic
14	87947881	G	GA	G87947887A	GALC	NM_000153.4(GALC):c.1339-8dup	noncoding	Benign
14	87949858	AGCTGCTTAAAAAGAAATCTTTCGGATGTTTTTCCAAGTTT	A	C87949860G	GALC	NM_000153.4(GALC):c.1285_1324del:p.Lys429fs	coding	Pathogenic
14	87950735	GAATG	T	G87950735T	GALC	NM_000153.4(GALC):c.1171_1175delinsA:p.His391fs	coding	Pathogenic
14	87963461	C	CA	C87963464A	GALC	NM_000153.4(GALC):c.1083dup:p.Gly362fs	coding	Pathogenic/Likely_pathogenic
14	87965516	AC	A	C87965517A	GALC	NM_000153.4(GALC):c.1021del:p.Val341fs	coding	Pathogenic/Likely_pathogenic
14	87965525	TC	T	C87965526T	GALC	NM_000153.4(GALC):c.1012del:p.Glu338fs	coding	Pathogenic/Likely_pathogenic
14	87965587	C	CAACT	G87965592A	GALC	NM_000153.4(GALC):c.947_950dup:p.Pro318fs	coding	Pathogenic
14	87968376	A	AC	A87968381C	GALC	NM_000153.4(GALC):c.866dup:p.Arg290fs	coding	Pathogenic
14	87968459	C	CTT	G87968464T	GALC	NM_000153.4(GALC):c.782_783dup:p.Asp262fs	coding	Pathogenic
14	87968494	G	GAA	G87968504A	GALC	NM_000153.4(GALC):c.753-13_753-12dup	noncoding	Benign
14	87968494	G	GA	G87968504A	GALC	NM_000153.4(GALC):c.753-5dup	noncoding	Benign
14	87976415	GACTCCCA	G	A87976416G	GALC	NM_000153.4(GALC):c.688_694del:p.Trp230fs	coding	Pathogenic
14	87976415	GACTCCCAGA	G	A87976416G	GALC	NM_000153.4(GALC):c.686_694del:p.Leu229_Ser232delinsPro	coding	Pathogenic
14	87976416	ACTCCCAGAGAT	GAG	A87976416G	GALC	NM_000153.4(GALC):c.683_694delinsCTC:p.Asn228_Ser232delinsThrPro	coding	Pathogenic
14	87984135	CAAA	C	A87984151C	GALC	NM_000153.4(GALC):c.582+256_582+258del	noncoding	Benign
14	87984135	CA	C	A87984153C	GALC	NM_000153.4(GALC):c.582+258del	noncoding	Benign
14	87984135	C	CAA	C87984154A	GALC	NM_000153.4(GALC):c.582+241_582+242dup	noncoding	Benign
14	87984135	C	CA	C87984154A	GALC	NM_000153.4(GALC):c.582+241dup	noncoding	Benign
14	87984477	TG	T	G87984478A	GALC	NM_000153.4(GALC):c.498del:p.Asn167fs	coding	Pathogenic
14	87986497	G	GTA	A87986500T	GALC	NM_000153.4(GALC):c.432_433dup:p.Thr145fs	coding	Pathogenic
14	87986598	GC	G	C87986600G	GALC	NM_000153.4(GALC):c.332del:p.Gly111fs	coding	Pathogenic
14	87988163	A	ACCTATTT	A87988173T	GALC	NM_000153.4(GALC):c.302_308dup:p.Gly104fs	coding	Pathogenic
14	87988178	T	TA	T87988183A	GALC	NM_000153.4(GALC):c.293dup:p.Leu98fs	coding	Pathogenic/Likely_pathogenic
14	87988187	CAA	C	A87988189G	GALC	NM_000153.4(GALC):c.283_284del:p.Leu95fs	coding	Pathogenic
14	87988190	AG	A	G87988191A	GALC	NM_000153.4(GALC):c.281del:p.Ser94fs	coding	Pathogenic
14	87988525	TAA	T	A87988534G	GALC	NM_000153.4(GALC):c.196-4_196-3del	noncoding	Benign/Likely_benign
14	87988525	T	TA	G87988536A	GALC	NM_000153.4(GALC):c.196-3dup	noncoding	Benign
14	87988723	TA	T	A87988729G	GALC	NM_000153.4(GALC):c.196-201del	noncoding	Benign
14	87992983	A	ACT	C87992985T	GALC	NM_000153.4(GALC):c.181_182insAG:p.Val61fs	coding	Pathogenic
14	87992988	GC	G	C87992990G	GALC	NM_000153.4(GALC):c.176del:p.Gly59fs	coding	Pathogenic
14	87993062	CA	AT	C87993062A	GALC	NM_000153.4(GALC):c.102_103delinsAT:p.Cys34_Ala35delinsTer	coding	Pathogenic
14	87993137	AG	A	G87993139A	GALC	NM_000153.4(GALC):c.27del:p.Trp10fs	coding	Pathogenic
14	87993144	CGA	C	A87993148T	GALC	NM_000153.4(GALC):c.19_20del:p.Ser7fs	coding	Pathogenic
14	87993157	T	TC	A87993159C	GALC	NM_000153.4(GALC):c.7dup:p.Glu3fs	coding	Pathogenic/Likely_pathogenic
14	88416735	AACTC	A	C88416737A	SPATA7	NM_018418.5(SPATA7):c.265_268del:p.Leu89fs	coding	Pathogenic
14	88426274	G	GA	T88426278A	SPATA7	NM_018418.5(SPATA7):c.418dup:p.Met140fs	coding	Pathogenic
14	88426555	C	CT	C88426560T	SPATA7	NM_018418.5(SPATA7):c.700dup:p.Ser234fs	coding	Pathogenic
14	88429403	AAGGGCAT	A	A88429404G	SPATA7	NM_018418.5(SPATA7):c.969_975del:p.Gly324fs	coding	Pathogenic
14	88431196	G	GC	T88431202C	SPATA7	NM_018418.5(SPATA7):c.1058dup:p.Ser354fs	coding	Pathogenic
14	88437577	CAAAAT	C	A88437581C	SPATA7	NM_018418.5(SPATA7):c.1199_1203del:p.Asn400fs	coding	Pathogenic
14	88438039	AT	A	T88438040G	SPATA7	NM_018418.5(SPATA7):c.1418del:p.Met473fs	coding	Pathogenic
14	88824811	C	CT	A88824814T	TTC8	NM_144596.4(TTC8):c.106dup:p.Tyr36fs	coding	Pathogenic
14	88840890	TG	T	G88840892A	TTC8	NM_144596.4(TTC8):c.293del:p.Gly98fs	coding	Pathogenic
14	88843807	CTTTG	C	T88843812A	TTC8	NM_144596.4(TTC8):c.586_589del:p.Phe196fs	coding	Pathogenic
14	88870063	TG	T	G88870064A	TTC8	NM_144596.4(TTC8):c.915del:p.Met305fs	coding	Pathogenic/Likely_pathogenic
14	88872447	GAACAGGTCAGTGAACTGGCAGC	G	A88872448G	TTC8	NM_144596.4(TTC8):c.1343_1347+17del	coding	Pathogenic
14	89980716	A	AT	A89980727T	TDP1	NM_018319.4(TDP1):c.884+94dup	noncoding	Benign
14	89985391	CTT	C	T89985394A	TDP1	NM_018319.4(TDP1):c.1131+184_1131+185del	noncoding	Benign
14	89989195	C	CT	G89989209T	TDP1	NM_018319.4(TDP1):c.1317+118dup	noncoding	Benign
14	89989195	CT	C	T89989208G	TDP1	NM_018319.4(TDP1):c.1317+118del	noncoding	Benign
14	90400956	TAA	T	A90400970G	CALM1	NM_006888.6(CALM1):c.35-289_35-288del	noncoding	Benign
14	91234968	TAGACC	G	T91234968G	GPR68	NM_001177676.2(GPR68):c.78_83delinsC:p.Val27fs	coding	Pathogenic
14	91235436	TATAAATAAATAAATAAATAA	T	A91235465C	GPR68	NM_001177676.2(GPR68):c.-129-305TTAT[7]	noncoding	Benign
14	91235436	TATAAATAAATAA	T	A91235473C	GPR68	NM_001177676.2(GPR68):c.-129-305TTAT[9]	noncoding	Benign
14	91235436	TATAAATAA	T	A91235477C	GPR68	NM_001177676.2(GPR68):c.-129-305TTAT[10]	noncoding	Benign
14	91235436	TATAA	T	A91235481C	GPR68	NM_001177676.2(GPR68):c.-129-305TTAT[11]	noncoding	Benign
14	91297627	CT	C	T91297639C	CCDC88C	NM_001080414.4(CCDC88C):c.3780-137del	noncoding	Benign
14	91306988	G	GTC	G91307002C	CCDC88C	NM_001080414.4(CCDC88C):c.3195+38GA[7]	noncoding	Benign
14	91881120	TACAC	T	A91881151G	FBLN5	NM_006329.4(FBLN5):c.989+138GT[15]	noncoding	Benign
14	91881120	TAC	T	A91881153G	FBLN5	NM_006329.4(FBLN5):c.989+138GT[16]	noncoding	Benign
14	91881124	CA	C	A91881125C	FBLN5	NM_006329.4(FBLN5):c.989+167del	noncoding	Benign
14	91881126	CA	C	A91881127C	FBLN5	NM_006329.4(FBLN5):c.989+165del	noncoding	Benign
14	91881126	CACACACA	C	A91881127C	FBLN5	NM_006329.4(FBLN5):c.989+159_989+165del	noncoding	Benign
14	91881134	C	CAT	C91881136T	FBLN5	NM_006329.4(FBLN5):c.989+157_989+158insTA	noncoding	Benign
14	91881626	TA	T	A91881627G	FBLN5	NM_006329.4(FBLN5):c.863-209del	noncoding	Benign
14	91894929	AC	A	C91894936A	FBLN5	NM_006329.4(FBLN5):c.502+20del	noncoding	Benign
14	91969962	G	GTACA	A91969965C	TRIP11	NM_004239.4(TRIP11):c.5720-70_5720-69insTATG	noncoding	Benign
14	91973025	C	CT	G91973044T	TRIP11	NM_004239.4(TRIP11):c.5575-182dup	noncoding	Benign
14	91973025	CT	C	T91973043G	TRIP11	NM_004239.4(TRIP11):c.5575-165del	noncoding	Benign
14	91974785	GA	G	A91974798C	TRIP11	NM_004239.4(TRIP11):c.5458-43del	noncoding	Benign
14	91974785	G	GA	C91974799A	TRIP11	NM_004239.4(TRIP11):c.5458-55dup	noncoding	Benign
14	91993476	CA	C	A91993499G	TRIP11	NM_004239.4(TRIP11):c.5160+332del	noncoding	Benign
14	91993476	C	CA	G91993500A	TRIP11	NM_004239.4(TRIP11):c.5160+310dup	noncoding	Benign
14	91993578	CA	C	A91993585T	TRIP11	NM_004239.4(TRIP11):c.5160+230del	noncoding	Benign
14	91995062	TCTC	T	C91995066T	TRIP11	NM_004239.4(TRIP11):c.5056+287_5056+289del	noncoding	Benign
14	92000140	A	AAC	T92000156C	TRIP11	NM_004239.4(TRIP11):c.4558-46GT[8]	noncoding	Benign
14	92003515	CAT	C	A92003516G	TRIP11	NM_004239.4(TRIP11):c.4459_4460del:p.Met1487fs	coding	Pathogenic
14	92005852	G	GT	C92005860T	TRIP11	NM_004239.4(TRIP11):c.2123dup:p.Asn708fs	coding	Pathogenic
14	92005852	GT	G	T92005859C	TRIP11	NM_004239.4(TRIP11):c.2123del:p.Asn708fs	coding	Pathogenic
14	92005964	ACTTT	A	C92005969A	TRIP11	NM_004239.4(TRIP11):c.2008_2011del:p.Lys670fs	coding	Pathogenic
14	92005988	T	TG	T92005990G	TRIP11	NM_004239.4(TRIP11):c.1987dup:p.Gln663fs	coding	Pathogenic
14	92011483	CAAAAAAAAAAAAA	C	A92011497G	TRIP11	NM_004239.4(TRIP11):c.1227+259_1227+271del	noncoding	Benign
14	92011483	CA	C	A92011509G	TRIP11	NM_004239.4(TRIP11):c.1227+271del	noncoding	Benign
14	92011483	C	CAA	G92011510A	TRIP11	NM_004239.4(TRIP11):c.1227+246_1227+247dup	noncoding	Benign
14	92011483	C	CA	G92011510A	TRIP11	NM_004239.4(TRIP11):c.1227+246dup	noncoding	Benign
14	92012011	CTA	C	A92012013G	TRIP11	NM_004239.4(TRIP11):c.1187-218_1187-217del	noncoding	Benign
14	92014478	AT	A	T92014485G	TRIP11	NM_004239.4(TRIP11):c.922del:p.Met308fs	coding	Pathogenic
14	92015741	CACTT	C	C92015743A	TRIP11	NM_004239.4(TRIP11):c.774_777del:p.Ser259fs	coding	Pathogenic
14	92021544	AT	A	T92021549A	TRIP11	NM_004239.4(TRIP11):c.588+11del	noncoding	Benign
14	92021562	A	AT	A92021563T	TRIP11	NM_004239.4(TRIP11):c.581_582insA:p.Ala195fs	coding	Pathogenic
14	92025509	T	TCCC	A92025518C	TRIP11	NM_004239.4(TRIP11):c.202-92_202-90dup	noncoding	Benign
14	92025515	C	CA	C92025516A	TRIP11	NM_004239.4(TRIP11):c.202-96_202-95insT	noncoding	Benign
14	92071010	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	T92071035C	ATXN3	NM_004993.6(ATXN3):c.892CAG[17]:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln	coding	Benign
14	92071010	C	CTGCTGCTGCTGCTGCTGCTG	C92071011T	ATXN3	NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA:p.Gly306fs	coding	Benign
14	92492158	TG	T	G92492159T	SLC24A4	NM_153646.4(SLC24A4):c.1651-16del	noncoding	Benign
14	93186375	T	TA	C93186377A	TMEM251	NM_001098621.4(TMEM251):c.197dup:p.Tyr66Ter	coding	Pathogenic
14	93207018	T	TA	C93207020A	GON7	NM_032490.5(GON7):c.19dup:p.Tyr7fs	coding	Pathogenic
14	93207325	T	TCGGAGCTGGAGCCCGTGGTA	T93207346C	UBR7	NM_175748.4(UBR7):c.35_54dup:p.Ser19fs	coding	Pathogenic
14	93215243	G	GTT	G93215246T	UBR7	NM_175748.4(UBR7):c.564_565dup:p.Cys189fs	coding	Pathogenic
14	93218542	CT	C	T93218543G	UBR7	NM_175748.4(UBR7):c.618del:p.Glu207fs	coding	Pathogenic
14	94378591	GCA	G	C94378592G	SERPINA1	NM_000295.5(SERPINA1):c.1113_1114del:p.Ala372fs	coding	Pathogenic
14	94379476	CA	C	A94379477G	SERPINA1	NM_000295.5(SERPINA1):c.1052del:p.Leu351fs	coding	Pathogenic
14	94381000	AC	A	C94381003A	SERPINA1	NM_000295.5(SERPINA1):c.787del:p.Val263fs	coding	Pathogenic
14	94382629	GTC	G	C94382633G	SERPINA1	NM_000295.5(SERPINA1):c.607_608del:p.Asp203fs	coding	Pathogenic
14	94382685	CG	C	G94382686T	SERPINA1	NM_000295.5(SERPINA1):c.552del:p.Asp183_Tyr184insTer	coding	Pathogenic
14	94769423	T	TCAAAA	C94769450A	GSC	NM_173849.3(GSC):c.355+213TTTTG[6]	noncoding	Benign
14	95090667	T	TA	T95090674A	DICER1	NM_177438.3(DICER1):c.5604-5dup	noncoding	Benign
14	95091250	AG	A	G95091251T	DICER1	NM_177438.3(DICER1):c.5479del:p.Leu1827fs	coding	Pathogenic
14	95091255	CATCCCACT	C	C95091260A	DICER1	NM_177438.3(DICER1):c.5467_5474del:p.Ser1823fs	coding	Pathogenic
14	95091332	CT	C	T95091334C	DICER1	NM_177438.3(DICER1):c.5397del:p.Glu1800fs	coding	Pathogenic
14	95093984	CT	C	T95093986G	DICER1	NM_177438.3(DICER1):c.5267del:p.Lys1756fs	coding	Pathogenic
14	95094026	GT	G	T95094028G	DICER1	NM_177438.3(DICER1):c.5225del:p.Asn1742fs	coding	Pathogenic
14	95094087	T	TC	A95094089C	DICER1	NM_177438.3(DICER1):c.5164dup:p.Glu1722fs	coding	Pathogenic
14	95094204	AC	A	C95094205T	DICER1	NM_177438.3(DICER1):c.5096-49del	noncoding	Benign
14	95095902	ATTTTC	A	T95095908A	DICER1	NM_177438.3(DICER1):c.5013_5017del:p.Lys1671fs	coding	Pathogenic/Likely_pathogenic
14	95095947	GT	G	T95095951A	DICER1	NM_177438.3(DICER1):c.4972del:p.Thr1658fs	coding	Pathogenic
14	95095977	CATCTTGGTGG	C	T95095979A	DICER1	NM_177438.3(DICER1):c.4933_4942del:p.Pro1645fs	coding	Pathogenic
14	95096070	A	AGGTTCTT	T95096078G	DICER1	NM_177438.3(DICER1):c.4843_4849dup:p.Leu1617fs	coding	Pathogenic
14	95096120	TTCCC	A	T95096120A	DICER1	NM_177438.3(DICER1):c.4796_4800delinsT:p.Arg1599fs	coding	Pathogenic
14	95096156	C	CA	G95096158A	DICER1	NM_177438.3(DICER1):c.4763dup:p.Lys1589fs	coding	Pathogenic
14	95096365	CAA	C	A95096366C	DICER1	NM_177438.3(DICER1):c.4553_4554del:p.Val1518fs	coding	Pathogenic
14	95096416	CA	C	A95096420T	DICER1	NM_177438.3(DICER1):c.4503del:p.Phe1501fs	coding	Pathogenic
14	95096457	GA	G	A95096458G	DICER1	NM_177438.3(DICER1):c.4462del:p.Ser1488fs	coding	Pathogenic
14	95096490	GA	G	A95096492T	DICER1	NM_177438.3(DICER1):c.4429del:p.Ser1477fs	coding	Pathogenic
14	95096600	ATC	A	C95096602T	DICER1	NM_177438.3(DICER1):c.4318_4319del:p.Glu1439_Asp1440insTer	coding	Pathogenic
14	95099731	TACACACACACACAC	T	C95099759A	DICER1	NM_177438.3(DICER1):c.4206+9GT[13]	noncoding	Benign
14	95099731	TAC	T	C95099771A	DICER1	NM_177438.3(DICER1):c.4206+9GT[19]	noncoding	Benign
14	95099758	AC	A	C95099759A	DICER1	NM_177438.3(DICER1):c.4206+21del	noncoding	Benign
14	95099760	AC	A	C95099761A	DICER1	NM_177438.3(DICER1):c.4206+19del	noncoding	Benign
14	95099762	AC	A	C95099763A	DICER1	NM_177438.3(DICER1):c.4206+17del	noncoding	Benign
14	95099764	AC	A	C95099765A	DICER1	NM_177438.3(DICER1):c.4206+15del	noncoding	Benign
14	95099766	AC	A	C95099767A	DICER1	NM_177438.3(DICER1):c.4206+13del	noncoding	Benign
14	95099770	AC	A	C95099771A	DICER1	NM_177438.3(DICER1):c.4206+9del	noncoding	Benign
14	95099788	CT	C	T95099793C	DICER1	NM_177438.3(DICER1):c.4197del:p.Asp1400fs	coding	Pathogenic
14	95099883	C	CG	C95099886G	DICER1	NM_177438.3(DICER1):c.4102dup:p.Arg1368fs	coding	Pathogenic/Likely_pathogenic
14	95100133	C	CT	G95100140T	DICER1	NM_177438.3(DICER1):c.4051-204dup	noncoding	Benign
14	95103327	TA	T	A95103334T	DICER1	NM_177438.3(DICER1):c.4050+18del	noncoding	Benign
14	95103327	T	TA	T95103335A	DICER1	NM_177438.3(DICER1):c.4050+12dup	noncoding	Benign/Likely_benign
14	95103539	G	GA	G95103541A	DICER1	NM_177438.3(DICER1):c.3856dup:p.Ser1286fs	coding	Pathogenic
14	95103582	T	TG	A95103584G	DICER1	NM_177438.3(DICER1):c.3813dup:p.Lys1272fs	coding	Pathogenic
14	95103590	TGAAT	ATTC	T95103590A	DICER1	NM_177438.3(DICER1):c.3802_3806delinsGAAT:p.Ile1268fs	coding	Pathogenic
14	95103684	GGA	G	A95103688T	DICER1	NM_177438.3(DICER1):c.3710_3711del:p.Leu1237fs	coding	Pathogenic
14	95103725	CTG	C	G95103727A	DICER1	NM_177438.3(DICER1):c.3669_3670del:p.Tyr1223_Ser1224delinsTer	coding	Pathogenic
14	95103730	T	TA	T95103734A	DICER1	NM_177438.3(DICER1):c.3665dup:p.Leu1222fs	coding	Pathogenic/Likely_pathogenic
14	95103765	CG	C	G95103768T	DICER1	NM_177438.3(DICER1):c.3630del:p.Val1211fs	coding	Pathogenic
14	95103817	GT	G	T95103819A	DICER1	NM_177438.3(DICER1):c.3578del:p.Asn1193fs	coding	Pathogenic
14	95103855	TG	T	G95103856T	DICER1	NM_177438.3(DICER1):c.3540del:p.Ser1179_Tyr1180insTer	coding	Pathogenic
14	95103878	G	GT	A95103880T	DICER1	NM_177438.3(DICER1):c.3517dup:p.Thr1173fs	coding	Pathogenic
14	95104036	A	ATTATTAGTTCTGG	C95104041T	DICER1	NM_177438.3(DICER1):c.3359_3360insCCAGAACTAATAA:p.Asn1120_Tyr1121insGlnAsnTer	coding	Pathogenic
14	95104042	A	AT	C95104047T	DICER1	NM_177438.3(DICER1):c.3353dup:p.Asn1118fs	coding	Pathogenic
14	95105090	A	AG	T95105091G	DICER1	NM_177438.3(DICER1):c.3249_3250insC:p.Ser1084fs	coding	Pathogenic
14	95105180	GACAA	G	A95105184G	DICER1	NM_177438.3(DICER1):c.3156_3159del:p.Cys1053fs	coding	Pathogenic
14	95105298	GA	G	A95105309G	DICER1	NM_177438.3(DICER1):c.3094-53del	noncoding	Benign
14	95105298	G	GA	G95105310A	DICER1	NM_177438.3(DICER1):c.3094-63dup	noncoding	Benign
14	95105732	AG	A	G95105734A	DICER1	NM_177438.3(DICER1):c.3038del:p.Pro1013fs	coding	Pathogenic
14	95106197	C	CGACCCGTT	T95106200C	DICER1	NM_177438.3(DICER1):c.2830_2831insAACGGGTC:p.Arg944fs	coding	Pathogenic
14	95106232	GA	G	A95106237C	DICER1	NM_177438.3(DICER1):c.2805-10del	noncoding	Benign
14	95106238	CA	C	A95106245C	DICER1	NM_177438.3(DICER1):c.2805-16del	noncoding	Benign
14	95106430	TTTA	T	A95106439C	DICER1	NM_177438.3(DICER1):c.2805-216TAA[2]	noncoding	Benign
14	95107651	CAA	C	A95107653G	DICER1	NM_177438.3(DICER1):c.2759_2760del:p.Phe920fs	coding	Pathogenic
14	95107713	A	AT	A95107715T	DICER1	NM_177438.3(DICER1):c.2698dup:p.Ile900fs	coding	Pathogenic
14	95107722	AT	A	T95107723G	DICER1	NM_177438.3(DICER1):c.2689del:p.Met897fs	coding	Pathogenic
14	95107866	GA	G	A95107867T	DICER1	NM_177438.3(DICER1):c.2650+13del	noncoding	Benign/Likely_benign
14	95107867	AT	A	T95107874C	DICER1	NM_177438.3(DICER1):c.2650+12del	noncoding	Benign
14	95107949	CA	C	A95107951G	DICER1	NM_177438.3(DICER1):c.2580del:p.Glu861fs	coding	Pathogenic
14	95107997	ACT	A	T95107999A	DICER1	NM_177438.3(DICER1):c.2531_2532del:p.Glu844fs	coding	Pathogenic
14	95108000	C	CA	G95108003A	DICER1	NM_177438.3(DICER1):c.2529dup:p.Glu844Ter	coding	Pathogenic
14	95108005	AT	A	T95108008G	DICER1	NM_177438.3(DICER1):c.2524del:p.Met842fs	coding	Pathogenic
14	95108024	A	AAC	C95108027A	DICER1	NM_177438.3(DICER1):c.2504_2505dup:p.Phe836fs	coding	Pathogenic
14	95108034	CTTCA	C	T95108035A	DICER1	NM_177438.3(DICER1):c.2492_2495del:p.Glu830_Leu831insTer	coding	Pathogenic
14	95108257	G	GT	C95108271T	DICER1	NM_177438.3(DICER1):c.2436+54dup	noncoding	Benign
14	95108453	G	GT	A95108455T	DICER1	NM_177438.3(DICER1):c.2306dup:p.Tyr769Ter	coding	Pathogenic
14	95108717	TACATTATAATGCAGTGCTGACTACATAGCTAATACCAAAATTATACATAAAACAATCCAACACTGTAGGGCCTTTTTAAAAATACTATTCATTTGATCTATTTCTTCTGACAAGAAAACTCATCTCTTCCTTGGGCTTTTTATGTATTAACTGTAGAGTATCAGAAAATGAAGTTAGGCAAATTTTTAAAAAATCACATATAATCCTATCACTCAAAGACAGCCTTTATTAACATTTTGATACACTGTATAATTCCTAGACTCTTTTTCTATGCATAAATACATAGAAACATATATACATTTATATTTTTCAATACAAATAAAATCACACAACACTGGTGTATATTAGGGTATGTGTGTATCTGTGTTTGTGAGATAGCCTGATTTTTATCCCGTTACTGTAAAGAGAATATCTGTCCGAGTCAATATGAGCCAATATCATCATTTGTAATGGCTACCTCATTATGTGAGTGAACCATAATTAAATGGACATTGCTGCTAGGCTTTCAATATTAACACAATCCTTCAGATTATGGTCTTGCAGTTCCTGAGGTTCAATGAAAAAGAACTGCATCTGTAGTTAAAAGGTACAAAAATGCTGGTAAAAGAGACAGTTATATTTAATAGAGAATCAGAAAATAAAGAATGTATCTATTAATTAAACAGGATGCCAGGCAGTACTATGCTTTTCTTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTCTCGGATTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCTAAAATGCTGGGATCACAGGTGTGAACCACCACACCCAGCCAATACTATGCTTTTAGAAACACTTATCATTAACGACTTTATCACATGAAACTAGTCTCACGTGAAAATTTGGTATGAGGAAAACATGCATTTTGGGAAAATGGGTAACATTCATGATTTTTTAAAAACATGATTCTGAATCTTGAAAATGCTAAGCTGGGTGCAAAATTTTATAAAGTAAAAACTTGGTAAAACTGCATAAGCAAAACCAAAGAAACACATATTTAGGCTAACATACAGGCACAGCAGTCCCCGCTTATCTGCAGCCTCCATGGTTTCAGTAACCTGAGGTCAGTCACGGTCCAATAACAGGTGTGTACAGTACAGTATTTTGAGAGAGACCACATTCACATAACTTTTATTACAGTATATGGTTACAATTGTTCTATTTTGTTATTACTGTGCCTAATTTATATCTTAAACTATCATAAATATGTACAAACGTATTTTAAAAAGCATAATATATGCTGTAAGTCCTCACTTAATGTCTTCGGCAGGTTCTTAGAAACTGGCTAAGGGAAACAACCAATTGGTAGAAAGAAACCAATTTTCCCACAGGCTAATTGACATAAATCAGTTAAATTCCTCCAGCACATTTCTGATCACAAAAACATCACCAAATTTCTAAATTAAAAAAAAACACTTTTAATATTAAGCATTAAAATAAATGTGAGCTATAGATACACTTAAGAAAGATGAATAAAAACAAGGAAGATGATTATTCACCCACTTATTCCAGTTCAGGGCCAAGGGTGCCAGAGTCTATCCTGGCAGCTCAGGGCCCCATGCAGGAACCCATCCCGGACAGGACACCACTCTGTGGCAGGGCACACGCACATGCATCCCCATGCTCACTCACAGTGGGGCAGTGCAGACACGCCAGTTCACCTGATGTGCACAGTTTTGGGATGTAGTAGGAAACCGGAGTAAGCAGACATGAGGAGAATGTGCCAACCCCACATAGAGACAGTGGCCCTGGCTGGGAACGATTTTTTTTTTCCTTGTCAACGTTCTAATGAAACAACGTTGAGCTGCTGGAGGATCGGTACTATCTGCAGTTTCCACTGTGGGTCTTGGAACATACCCTCCAAGGGTAAGCGGGACTACTACACACAGCAAAATTCTGCTTTTGCTTGGGGTTCTTATGAGGTAAAAATATTAACAAATATTTTAAAAATAAATACTTCAGCCAAGTTTGTCTATTACTAGAAGTTAGATTTAGAGATGCTTTCATGTGTGAACTCTGCTAGGATGCCCACAGATTGAGCTGGAAACACTCCATGGAAATAACTTATTTCGATTCCCAATGGCCCACACTGGGAATCTGACATAACTCCTGACAGATATTTGTGCTTCTACCTTCCAGTGTACCTGTCATCTTGAGAGGGCATCTTTTCACTTGCTTATTTTATCACACAAATCCTCTTCTGTCTTAGCCCCAAATCATAAGTAAAACAAGAATCACACCACTAAACTGAATGAAACAAAGAATGTCTATTTAAATGAAATAATCTCATTCTGGATAGAATATGACAGATGGGTCCAAGAATCCTTTTGAGAAGAAAAACAAAAGCAACCTCTGAAGTGGAAGAGCACACATTCTACATTAGGAAGGAAAGAGGCTGATCTGAGAGAAGCTGTGAATCGGAGAAAGGAGCTGAGATCCAGAGTGGGCCAAACTGTAAGGGTGTGGGAAGCCAGCCAAGCAGAGGAACTGAGATTTGATGTAGCGGAAAACAAAGTCAGAAATGCTAGGTTTTTACTCTGTTCTAACCAATACTAACTGCTTTTGGGTAGCACTGCCTTCGTTTCGTGGAACCTGGTCTTCCTGGAACACTGGTCTCTTCTTCATCATGCAAATCAAGCTCCTCTTCATATTTAACAGTCTCTTTCCCAACTGGCATCAAATGGTCATCCAGTTCGCCTAACAAATTTAAAGAGAGAATTAACACAATCCAGATTTTGCCTGATTAATTAGTAAAGAATTTAGAACAGAACTATGTTAGAAGGACCTGGAAAAGTAATGGAAACTAAAGCACCTTTGCCTTTTACAATTTAAAAGTAATCAGATTCACACTTCAGGCAAAGTCTATTTTGGCATCCATATATTCCAATATGAGCTGGACTGCAAATTCTGTTCTAAGGTTCAGAAACAAAAACATCTAAACATGACATCACCACATATCAATGCTAAATAAAATGGCCATAGAAAATGGGTCCACTTATACAGGAGCAGGATTGAGAAAAAAAAAAAAAAGAAACTGAGTTCATTTTTTAAAAAAGGATTAATTTCTATACTAGTATAGACTAATTTGAGAGACTGACATATTAAAACACAAGTGTTCATGGTGCATGATTCAACAATTACGAAAAGACCTTTATGTACTTAAAAGGAGTCATTAAAGAGAGCAAATAAATGACAGTTGTTTGCAGTCAAGCTATGGAAAACAAAGAGCTCCCACAACAATGTAGGATCTTCAAGTTACTAACACTTATGTTTATATTCACCAAAGCACATTAAGATCAGCAAGTGAATAGCTCTACAAAATCCTTACAGATCTATAAAGTCCTCTATATGCTTTTTTTTTACAATGGTTGCAATTTATTTTCATTCGTATATGCTTTTCAAACATCCTTACCAATTTTGTGCAGTTTCTCACAGCAAATGAGAGCTACAACTCTTTCAGCCAATCGTACACAGCTCATTGGTGGACCCTGAAAATAACAAAAACCTTTCCATTATATATGCACATCGCTGTATTACCTCTAGCACATGAAACACCTATGAAACCACTGCCCCAACATTTTTAAAGTTCAATTTACCAAAACAAAATTCTTTATTTTGAAAAATTCCAGCAAGTTTTTAAAAATTCTAATCTCCATATTTGAAATATTCATCTTTAAAAGTCCTGCCTAGTAAAAACTAAGTCATAATTAAGATTTTACAATTTTGATGAATTTAAATTTCAGTAAGATTTTAAAGTATCTTATTTTTACTAATCAATAAATATGTAACAAAAAGAAAGATTTATCAAAACATAGCTATAACATTAACAGTATTGAGCAGCTTTTTATGTGCAATAGAAATTAGTCACCTTGGAACACTTGGAAATCAGTACTGAGACCAAGAACAGTATTTACAAAAAGCAGATTTTTGAGTCACCAACAAAATAACTAGGACAACGCAACGATCTATAATAAGTTTTATATTACTCTAAGTGTCTAAGCCACAGTTGAATGATTCTGTCAAAAATGTGCATGTTAGTAACACCTTAGAAGAAACTTCAGAGATCACCTAGTCCAGTTCTAAGTATCTGTAAATTAGACAGTCTATTACAAATATGAACATGTAGATGACTACAAAAGCAATCTATAAATCTACTTTTGAAAGTAAATTTGGTTTTTATTTTTATTTTTGGTCTGTCAACACAAGGCTCCTGCTCATGAAAGTAGATTTTAAAATCAAATTTACCTATAACTTGCAAGTCTTAGAAAAGCTGAAAAAATCCACTAATGACACATTTTAAAAGATAACAATCATTTCTTCTTCTAAACTTACAACAATGGAGGCTCGAAGAGGTGAGTTAATTGGCAGATAAAGAGTTGAATAAAATGTACCATCAGGCAACTCTCGGGTTCTGCATTTAGGAGCTAGATGAGTAAACGGATCACTTGGTAATCTAGCACAGTATCTGTGAAGAAAAAGAAATTCTGAGGCTGAATCTACAACTGAGAAAATATTGATATTTATAACCTCGAGTTTGATTTGTCATGTGCCTCTTCCCCTCTACTGAATTTGTATTTATATGTGGCATTTAAACTTTACTGCTTCAAACTTCGAATAAGACAGAATAGTGTTGTCTAACAGAACTTCTGCAAAGATGTTCTATATCTTCGATGCCCAACAGGGCAGTGGCTGGTGAGCACTTGAAATGTGAGAAGTACAACTACGAAACTCCATTTTTTATTTTATTTTAAATTGAATTTTGAATTTAAATAGTAACATGTGTCGAGTGTTACCATAATAGAGCACAAAGTATTGTTCAGAATCCAGTAAGAAAACATACTGCCAATGTTTTTTCCTTAATCATCTTACATTTCCCACCAACTACCAGCACACATATAAGGAAGGCATCAGCAGAGGGCGGGACAGCCCAGTGCTGACACAAAAAGGACAGTAGAACTAGCAACTCACTGAGCAACAGCACCAGGGAAGGTTGGAACAGGGCAGAAAGCTAGCCCAGAAAGGGATGCTGGGACAGGACCCACATCAGGAGGGTGCTGGAATGGGCAGCAGCCCTGTGAGGTTGCGACCTGTGCAGCAAGGGCACCTGACCACAGTTGCAGCCCTACAGAGCAGGGAGACTGGCTACATACAGGAAGACTGAACACTAATTATTTTGAGGACAATGGGAGCCAAATTTCTGATTATTAGAGAAAGGAGGTACAAAGACAGAAAGGAGGAAATCTAGAATGAAACCTCTAGTGTCACACTGAAAATAGAGATATCAACAGATAGACACTGAAACAAATACAGATGTAAACATGAACAAACAAACATTCTAGCTCTGTCCACTAAAACGCCTGGCAGCAGCAACACACCGGTAGCAATGAATAAACCTAGTATCCAGTTCTTGGTTTCTAACTACAACTTTTTCTCCACTAAATTCGAGGAAATTGCCAACATCAAGGCTGGGGCAGTCTAGAATGTCTTGCGCCATAAAACAAGGAAGTATTCAAGGAATAATAGTGAGATGTTAAAAAGACAAAGAAACCAGCTTTAAGGGGTTCCCACTGGCCAAATATGAAACAATTTTAACATCAAAACAAACAGTAAATGATAATGATAGATTATAACCCATTAAATAAAACAGGAGTCCATAAGTTCACACTGACATTAAAAAATGATAATATAAGAATGAATAAACGGAGAGAAGAAATGGATGGTAGAATGCCAACTAATAAATACAGAAATAATGGAGTTAGAAAATCATTTAGTAGCCATCATAGTAATAATCAATTTGGGCCAGAAATATCAAAGAATGCTTACACTAATGAGTCAAACTGGGAAAAGGAACAAATTTTATACCGTCTCAAAGTATCTCCCCATGAAATATCTACTAATTATAAAAGGGGTGAAAGGGAACTTTACAGTAGAGAAAACTGGCAGACTTCACTCAAGTGATCTAAGTTACCACCGGTAAGGGCACAAATCAACATGGTGTGCGACTTGGTAAGCTAGGATGAGGAGAGGACACCATCGTCTCAGTGATGTGCTGCCCAAAAATTTGTAACCTGGGTCTCATCATAAGAAAATAGCAGACAAACCCAGACTGACAGTAAGACTACAAAATGACAGCCTATCTATCTTCCAAAGTTTCAAGGTCATTAAAGTCAAGGAGAGACTAAAGAATGGTTCCAGATTGAAGGAGACTAGGAAGATGTGACAACAGGAGTTGAGGACAACTCCTGACTCTAAGGTAGATACTTTGGCTACAAAGAACATTCTCATGAAACTGAATGAGTCTCTCTTGGTGTCTGGGTGAAAGGCATATGCGGAATTCTAGTATTCTTACAACACTTTAAAGTTTGAAATTGTTTCAAAATAAAAGGTTACAAAGAAAATCTTATACTTGCTCTTTTGTCTCTGAATAGAAATTATCCTGGTATATAATCCAGGAATGCATTTGCTGTTCTTAGCTCTTAGAAATTTTATTATCAGCTCTGGACAAAGTAAATTACAATGTACCCAAAAACATAAATTAGTTTATCACAATCTTACTTTATTGCTAGGGGAAAATTCAACATTACCCAATGGTTATGGCACAAAACAAAAAATTTCAGGATTTAGAAAAAAATTGGTGAGAATTATAAAATTAAATTAAACCTAATTTAAAATGCCTTCATTATGTTAGCCTTGCCAAGGAATACTGAACTTTTATTGCTGCACGATACTGTTTTTGCCTTTTGATTTAAAAAAAAATGAAAAAAGAAGTAACTTTTCTTTATCGAAAATATGGCAAGTCTAAGTAAAGACTGGTAACCGCAAAATGTCAACAATACAAAATGTACAGGTTTAGACTTAAACTGTGCAACATTCCCAGGTTTTCCACACAAATGATATGATGCCATACCTATTGATGTGTCCAATGGCCGTGTTGATTGTGACTCGTGG	T	A95108720C	DICER1	NM_177438.3(DICER1):c.1867_2257-215del	noncoding	Pathogenic
14	95111359	TC	T	C95111361T	DICER1	NM_177438.3(DICER1):c.2213del:p.Gly738fs	coding	Pathogenic
14	95111415	C	CA	G95111417A	DICER1	NM_177438.3(DICER1):c.2157dup:p.Val720fs	coding	Pathogenic
14	95111417	GT	G	T95111418C	DICER1	NM_177438.3(DICER1):c.2155del:p.Thr719fs	coding	Pathogenic
14	95111419	CT	C	T95111420C	DICER1	NM_177438.3(DICER1):c.2153del:p.Glu718fs	coding	Pathogenic
14	95111447	TC	T	C95111449A	DICER1	NM_177438.3(DICER1):c.2125del:p.Asp709fs	coding	Pathogenic
14	95112111	C	CT	A95112121T	DICER1	NM_177438.3(DICER1):c.2116+52dup	noncoding	Benign
14	95112196	A	AC	A95112197C	DICER1	NM_177438.3(DICER1):c.2091_2092insG:p.Cys698fs	coding	Pathogenic
14	95112208	C	CAA	C95112211A	DICER1	NM_177438.3(DICER1):c.2078_2079dup:p.Val694fs	coding	Pathogenic
14	95113032	G	GA	T95113039A	DICER1	NM_177438.3(DICER1):c.2040+54dup	noncoding	Benign/Likely_benign
14	95113093	A	AC	A95113095C	DICER1	NM_177438.3(DICER1):c.2038dup:p.Val680fs	coding	Pathogenic
14	95113232	GA	G	A95113237G	DICER1	NM_177438.3(DICER1):c.1908-9del	noncoding	Benign
14	95116058	GAC	G	A95116089G	DICER1	NM_177438.3(DICER1):c.1753-269GT[15]	noncoding	Benign
14	95116058	G	GACAC	G95116091A	DICER1	NM_177438.3(DICER1):c.1753-269GT[18]	noncoding	Benign
14	95116058	G	GAC	G95116091A	DICER1	NM_177438.3(DICER1):c.1753-269GT[17]	noncoding	Benign
14	95116453	CT	C	T95116457C	DICER1	NM_177438.3(DICER1):c.1751del:p.Lys584fs	coding	Pathogenic
14	95116480	G	GT	C95116482T	DICER1	NM_177438.3(DICER1):c.1724dup:p.Asp575fs	coding	Pathogenic
14	95116493	CT	C	T95116498A	DICER1	NM_177438.3(DICER1):c.1711del:p.Ser571fs	coding	Pathogenic
14	95116569	AG	A	G95116571A	DICER1	NM_177438.3(DICER1):c.1635del:p.Tyr546fs	coding	Pathogenic
14	95117695	ATG	A	T95117696A	DICER1	NM_177438.3(DICER1):c.1434_1435del:p.Ile479fs	coding	Pathogenic
14	95117741	CTTCCT	C	C95117744A	DICER1	NM_177438.3(DICER1):c.1385_1389del:p.Lys462fs	coding	Pathogenic
14	95124198	GT	G	T95124201A	DICER1	NM_177438.3(DICER1):c.1373del:p.Asn458fs	coding	Pathogenic
14	95124227	CCACAAAAATAATTCCG	C	A95124235T	DICER1	NM_177438.3(DICER1):c.1329_1344del:p.Cys443fs	coding	Pathogenic
14	95124249	A	AT	A95124250T	DICER1	NM_177438.3(DICER1):c.1322_1323insA:p.Leu442fs	coding	Pathogenic
14	95124423	G	GATTTC	G95124429A	DICER1	NM_177438.3(DICER1):c.1144_1148dup:p.Ile383fs	coding	Pathogenic
14	95124441	TA	T	A95124442C	DICER1	NM_177438.3(DICER1):c.1130del:p.Val377fs	coding	Pathogenic
14	95124446	T	TA	G95124448A	DICER1	NM_177438.3(DICER1):c.1125dup:p.Lys376Ter	coding	Pathogenic
14	95124517	AG	A	G95124519A	DICER1	NM_177438.3(DICER1):c.1054del:p.Phe351_Leu352insTer	coding	Pathogenic
14	95124519	G	GA	G95124523A	DICER1	NM_177438.3(DICER1):c.1052dup:p.Leu352fs	coding	Pathogenic
14	95124558	CT	C	T95124559C	DICER1	NM_177438.3(DICER1):c.1013del:p.Glu338fs	coding	Pathogenic
14	95124588	TTC	T	C95124592T	DICER1	NM_177438.3(DICER1):c.982_983del:p.Glu328fs	coding	Pathogenic
14	95124659	C	CT	G95124661T	DICER1	NM_177438.3(DICER1):c.912dup:p.Asp305fs	coding	Pathogenic
14	95124686	GA	G	A95124692C	DICER1	NM_177438.3(DICER1):c.904-19del	noncoding	Benign
14	95124686	G	GA	C95124693A	DICER1	NM_177438.3(DICER1):c.904-19dup	noncoding	Benign
14	95126695	C	CT	G95126697T	DICER1	NM_177438.3(DICER1):c.787dup:p.Arg263fs	coding	Pathogenic
14	95126702	TA	T	A95126705T	DICER1	NM_177438.3(DICER1):c.780del:p.Phe260fs	coding	Pathogenic
14	95126720	CCA	C	C95126723A	DICER1	NM_177438.3(DICER1):c.761_762del:p.Val254fs	coding	Pathogenic
14	95126822	CA	C	A95126836G	DICER1	NM_177438.3(DICER1):c.735-75del	noncoding	Benign
14	95126822	C	CA	G95126837A	DICER1	NM_177438.3(DICER1):c.735-88dup	noncoding	Benign
14	95126849	TA	T	A95126864T	DICER1	NM_177438.3(DICER1):c.735-102del	noncoding	Benign
14	95126849	T	TAA	T95126865A	DICER1	NM_177438.3(DICER1):c.735-116_735-115dup	noncoding	Benign
14	95126849	T	TA	T95126865A	DICER1	NM_177438.3(DICER1):c.735-116dup	noncoding	Benign
14	95129481	A	ACCACCAGGTCAGTTGCAGTTTCAGCATTACTCTTAAGAATTTT	T95129526C	DICER1	NM_177438.3(DICER1):c.682_724dup:p.Val242delinsGluAsnSerTer	coding	Pathogenic
14	95129490	T	TCA	G95129493C	DICER1	NM_177438.3(DICER1):c.714_715dup:p.Asp239fs	coding	Pathogenic
14	95129493	GT	G	T95129495G	DICER1	NM_177438.3(DICER1):c.712del:p.Thr238fs	coding	Pathogenic
14	95129562	TCA	T	C95129565T	DICER1	NM_177438.3(DICER1):c.642_643del:p.Cys214_Asp215delinsTer	coding	Pathogenic
14	95129569	TC	T	C95129572A	DICER1	NM_177438.3(DICER1):c.636del:p.Lys213fs	coding	Pathogenic
14	95130138	ATAAGTAAC	A	T95130139C	DICER1	NM_177438.3(DICER1):c.485_492del:p.Gly162fs	coding	Pathogenic
14	95131535	ATC	A	C95131541T	DICER1	NM_177438.3(DICER1):c.410_411del:p.Arg137fs	coding	Pathogenic
14	95131579	TC	T	C95131583A	DICER1	NM_177438.3(DICER1):c.367del:p.Glu123fs	coding	Pathogenic
14	95132691	GAA	G	A95132698G	DICER1	NM_177438.3(DICER1):c.145-16_145-15del	noncoding	Benign
14	95132691	G	GA	G95132700A	DICER1	NM_177438.3(DICER1):c.145-22dup	noncoding	Benign
14	95132799	C	CA	C95132808A	DICER1	NM_177438.3(DICER1):c.145-130dup	noncoding	Benign
14	95133349	AT	A	T95133351G	DICER1	NM_177438.3(DICER1):c.109del:p.Ile37fs	coding	Pathogenic
14	95133450	G	GC	T95133452C	DICER1	NM_177438.3(DICER1):c.8dup:p.Ser3fs	coding	Pathogenic
14	95543666	C	CAA	C95543678A	GLRX5	NM_016417.3(GLRX5):c.296-271_296-270dup	noncoding	Benign
14	95543666	C	CA	C95543678A	GLRX5	NM_016417.3(GLRX5):c.296-270dup	noncoding	Benign
14	96302177	G	GA	G96302187A	ATG2B	NM_018036.7(ATG2B):c.5038-78dup	noncoding	Benign
14	96304615	CAA	C	A96304628C	ATG2B	NM_018036.7(ATG2B):c.4734-14_4734-13del	noncoding	Benign
14	96304615	C	CA	C96304630A	ATG2B	NM_018036.7(ATG2B):c.4734-26dup	noncoding	Benign
14	96306534	T	TAGG	A96306537G	ATG2B	NM_018036.7(ATG2B):c.4506+179_4506+180insCTC	noncoding	Benign
14	96306588	TAA	T	A96306599G	ATG2B	NM_018036.7(ATG2B):c.4506+124_4506+125del	noncoding	Benign
14	96306588	TA	T	A96306600G	ATG2B	NM_018036.7(ATG2B):c.4506+125del	noncoding	Benign
14	96306667	C	CA	T96306669A	ATG2B	NM_018036.7(ATG2B):c.4506+46dup	noncoding	Benign
14	96307098	AAG	A	A96307101T	ATG2B	NM_018036.7(ATG2B):c.4304-184_4304-183del	noncoding	Benign
14	96313681	A	AT	A96313683T	ATG2B	NM_018036.7(ATG2B):c.3643-247dup	noncoding	Benign
14	96324000	T	TA	G96324010A	ATG2B	NM_018036.7(ATG2B):c.2438-11dup	noncoding	Benign
14	96332214	G	GA	G96332229A	ATG2B	NM_018036.7(ATG2B):c.1468+77dup	noncoding	Benign
14	96382228	C	CT	A96382243T	GSKIP	NM_016472.5(GSKIP):c.-1-5dup	noncoding	Benign
14	96449895	G	GT	A96449909T	AK7	NM_152327.5(AK7):c.948+29dup	noncoding	Benign
14	96449895	G	GTT	A96449909T	AK7	NM_152327.5(AK7):c.948+28_948+29dup	noncoding	Benign
14	96471464	TG	T	G96471465T	AK7	NM_152327.5(AK7):c.1358-13del	noncoding	Benign
14	96833569	CAA	C	A96833574G	VRK1	NM_003384.3(VRK1):c.103_104del:p.Lys35fs	coding	Pathogenic
14	96837749	C	CT	A96837756T	VRK1	NM_003384.3(VRK1):c.161-7dup	noncoding	Benign
14	96837777	CAG	C	A96837780T	VRK1	NM_003384.3(VRK1):c.179_180del:p.Glu60fs	coding	Pathogenic
14	96846097	AC	A	C96846100A	VRK1	NM_003384.3(VRK1):c.222del:p.Ser75fs	coding	Pathogenic
14	96847433	T	TA	C96847435A	VRK1	NM_003384.3(VRK1):c.374+90dup	noncoding	Benign
14	96852842	T	TG	A96852844G	VRK1	NM_003384.3(VRK1):c.387dup:p.Ile130fs	coding	Pathogenic
14	96852953	GTTC	G	C96852959G	VRK1	NM_003384.3(VRK1):c.483+20_483+22del	noncoding	Benign
14	96853124	C	CAAGGCCTCGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A96853133G	VRK1	NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC:p.Ser181_Asn182insArgGlyGlySerArgLeuTer	coding	Pathogenic
14	96860562	AT	A	T96860564G	VRK1	NM_003384.3(VRK1):c.897del:p.Ile299fs	coding	Pathogenic
14	96860577	G	GA	C96860581A	VRK1	NM_003384.3(VRK1):c.913dup:p.Thr305fs	coding	Pathogenic
14	96860761	T	TTG	G96860764T	VRK1	NM_003384.3(VRK1):c.1068+27_1068+28dup	noncoding	Benign
14	96876090	AACAC	A	C96876094G	VRK1	NM_003384.3(VRK1):c.1133_1136del:p.Thr378fs	coding	Pathogenic
14	96876093	A	AT	C96876094T	VRK1	NM_003384.3(VRK1):c.1132_1133insT:p.Thr378fs	coding	Pathogenic
14	96881164	AT	A	T96881169C	VRK1	NM_003384.3(VRK1):c.1160-8del	noncoding	Benign
14	99174374	T	TCGCCGGTGTGGCTC	C99174397T	BCL11B	NM_138576.4(BCL11B):c.2448_2461dup:p.Glu821fs	coding	Pathogenic
14	99174400	C	CTT	G99174401T	BCL11B	NM_138576.4(BCL11B):c.2435_2436insAA:p.Val813fs	coding	Pathogenic
14	99174474	TGGGCCGCCCGGGGCCC	T	G99174484A	BCL11B	NM_138576.4(BCL11B):c.2346_2361del:p.Gly783fs	coding	Pathogenic
14	99174918	C	CCG	T99174923C	BCL11B	NM_138576.4(BCL11B):c.1916_1917dup:p.Gly640fs	coding	Pathogenic
14	99174942	CCCCGCCG	C	C99174951A	BCL11B	NM_138576.4(BCL11B):c.1887_1893del:p.Gly630fs	coding	Pathogenic
14	99175167	TGAAGCTC	T	A99175170C	BCL11B	NM_138576.4(BCL11B):c.1662_1668del:p.Ser555fs	coding	Pathogenic
14	99175206	GCTC	G	C99175231G	BCL11B	NM_138576.4(BCL11B):c.1603GAG[8]:p.Glu543del	coding	Benign
14	99175557	TGCTCTTG	T	C99175561G	BCL11B	NM_138576.4(BCL11B):c.1272_1278del:p.Lys425fs	coding	Pathogenic
14	99257686	AG	A	G99257688A	BCL11B	NM_138576.4(BCL11B):c.211del:p.Leu71fs	coding	Pathogenic
14	99917695	TTGTG	T	T99917700C	EML1	NM_004434.3(EML1):c.1753-86TG[2]	noncoding	Benign
14	100262306	GA	G	A100262314G	YY1	NM_003403.5(YY1):c.690del:p.Asp231fs	coding	Pathogenic
14	100276626	A	ACGACGGACAACGGCTAGTTTATTTTTACTTGCAGCTTCAAAACCGCCACCTTCCATTGCTTGTCCAGTGATACGGAGACCTTCCTCGGCAGCAAAACGAATCAATTCTGCTGTACG	T100276627C	YY1	NM_003403.5(YY1):c.1040_1041insCGACGGACAACGGCTAGTTTATTTTTACTTGCAGCTTCAAAACCGCCACCTTCCATTGCTTGTCCAGTGATACGGAGACCTTCCTCGGCAGCAAAACGAATCAATTCTGCTGTACG:p.His347_Thr348insAspGlyGlnArgLeuValTyrPheTyrLeuGlnLeuGlnAsnArgHisLeuProLeuLeuValGlnTer	coding	Pathogenic
14	100342706	C	CAT	C100342709A	WARS1	NM_004184.4(WARS1):c.940-137_940-136dup	noncoding	Benign
14	100804356	TGAGGCCCAGCTCAGCCCTGCGCTCTGCAGGTCTCCCTGGTAAACGGCTTCCTGGTCCTCATCGGAAGGCAGGGGCCGCCCGGCGCTCCCCTGGACCTGACGGGGAGGCTGTCTTGCTCGTGTCCGTGGACCATCCACCCACAGTGGAGCCCTAGGGATGAGGAGGGACATGAAGTTGAGTGGTGAAGGGGAGACCCCATGGGAGGTGAGAAGCCAGCCCAGGGAGGAGGGTGAACAAAGTCTCCTTTTTTTTTCCAGACCTCTTCCAGCCCATGCTACATGACCCATGAGAAAGAGCAGAGCTGGGACGCAGGTCCCCGGGACTGGCATCTTCACGCTGTATCACACAGCGGCCTTTCATCGCCTCCTCTGTTCAAGGGAAACCAGCAAACCTGCTCCCTGGACTTTGTGGGACTGAGGCTGCCGCTCTGGGGAAACATTCCATCCAGTTCTGGACCCAGGAGGGCTCATCAAGTATTCATCTCACCCCTTTGCATTTCAAAAGGGAAGGTTTTCAGGCAAGGTGAGCTTGCATTCAAAGGAAAATGCATCTCTCAAAGTCAGCAAAGGCCCCCAGTCCTTTTTGGGGTTCAGCTTTTACCCCATGCTGCATGTAATCTACCTGGTCAGAGAGAGATGGCTTCACAAGACACAAAGGTGAATCTGCCCGCATCCTCCCTGGTCCTCCCCTGAGGCCACAAGGACACCCCTGGGCCTGTTAGAGCTAGGGGCACCTTAAAACTGAGCATGTCTCCCGACCCTCCAGGGGTGACACTGAGCTCTGTGGAGAAGCCCTTTCCTCCAGGACTGTCTTCTGAAATGCCAGGAACCCAACTGTGTGTGACAGGGCTCCCCCAGGGAAGCAGAATGGGGAGGGAGTTTAGAAAAGGGCTAAGAAACCACACTCTGCACAGCCACAGACCATTGCATTCTTCGGTTTTTGTTTTGTGTTTTCTCTTTTCTTCTTCTTCTCTCTCTCTTTTTTTTAAACAAGAAACAAGAATTATTCCTGTAATTGTCTTAAAGGTTAAAATATTATGACGGTTCCCTGATCGGGCTGTTGGGAGAATTAAATGCGATGAGGCTCCAGGGAACGTCAGTGTGGCTTTGGGGACTGCTGCGGCTGTGTACGAAAAAGGATGGCACTTCTGCCACCAGGATCCTTTCCCTCAGTCGTCCATGGGGAGCTGTTTGGGCCCCTCAGTTAGTCACTCATCAAATCCTGGCTCCTGGCATCTTCCACGTGTCAGAATCCTTTACCAGTCCTCCAGGGAGACCCTGCCTGCATCCTAATGGCACACTCAAGTCTTTGAGAGGAATTTTCAGTCATCAGGAACTTTCGGGGCCAAATTCTTACTAGAATATTTAAGCGCTCTGGATCTGCCAAGCCCCTGCCCCCAAACTCCTTTCTCCAGCAAGGGCTTGTGGCACCTGAGCCCCCAACCTCCATGTCAAATGTTGAGAAGCTCCTCATGGCTGCCCTCCCCAGCCCTGTCTCCATGGTTCTGTGATGGGGGATTTTGCACCCCGAAAGTTGCCTTTTCAGCAGCACACAGAGGCCTGGGACTGTTACAGGACTGGGATCTAACCTTAGCGCTGCCAGTGGAAAAAGTCAAGTGACTTCACTTTTCTTTTCTTTTCTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCCGTTGACTGCAATCTTCGCCTCGCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGATTATAGGCATGTGCCACCACACGCCTATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCGGGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCGCTTTTCTAGTTAGGCACCTATAATATTGGAGAATAACAAAAATACACCTCCAGGGATTCATGTGAGGATGCGGCGAAATAAATGTCAGGTCAAGGTCAATCGCCTCTGAGATCTCAGCGAATTAAAGAGTTGGCAGCGATCTGGCAGCCTGGGGGTCCCTGAAGAGCCCTCCTCACAGTGGAGTTGGGTGGAGGTCTCCCCAGCCCCCAGGAGACAGTGATGAGCTGGCCCAGCTCCCAGCCTGAGCTATCCAATCCTCTGAGCTCCTCTCCCCGCCTGGGGCAGGGGTGGTGCTGGCTCAGCAGGAAGCGAATGGAAGCAAACTGCCCTGGGGGTGGTGGTGTTTGGTCTGAGGAGCGGCTCCTGGCTGTTGCTTTAAGGAGAGAAGCACTGGCCGGGAGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGTAGATCACCTGGAGGTCAAGAGTTCAAGACCAGCTTGGCCAATATGGCGGAACCCCGTTTCTGCAAAAATACAAAAATTAGTCTGGGCGCGGTGGCTCACGCCTGTGATCCCAGCACTTCAGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAAATGGTGAAACCCCATCTCTACCAAAAAATACAAAAACTGGCTGGACATGGTGGTGGGCACTTGTAATCCCAGCTACTTGGGAGGTGAGGCAAAAGAATCTCTCGAACCTGGGAGGAGGAGGCCGCAGTGAGCTGAGATGGCGCCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCTGTCTCAAAAATAAAAAAAATAATAATAAAAGAAGAGAAGATCGGCTGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAAGCCCAGGGGGGCAGATCACCTGAGGTTGGGCGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCACGCCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCTATTGCACTTTAGCCTGTGCAACAAGAGCAAAACTCCGTCTCAGGAAAAAAAAAAAAAAAAGACGAAGAGAAACAAAGCAGAATTCATTTTCCACCACTCTAACCTGGTCATGCTAGCTTGAAAATGTCCAAAGGTGGTGGGGTTGAGAAGGTAGGTGATCACGACGGGAGGCCTGCCCAGCCCCAACCCCTTCTTAAGTGCAACCCTGGGGACTTTGGAGTCAGGCTTTAGGGTCACCCTAAGGCTGCTGAGATGGAGAGCAGGGACCCAACCAGCGGTGTTGCGGTTTGCCCTGCATCATGCCGCTGAGTGCCAGGCTCGCTCGGCCCACCGGTCACTGGCACGCTTGCTTCCCACCACTATTAACGGTGTTGTGGTCTCCTGGTTCCCATGCCTGGAGGGGCTTTGGTACCCCGTGACCTCAAGTTGCCATATGCCTTGACTCTCTGCATCAGCTCACTGCAGGAGGGTCCCCGTGCCCCTTACAGTGCTGGCGCCAATATCGTAGAAGCTACATTGTGTTTCATTCATTTGCTTACTGGCTGGGGATGGGGTTTGGGATTGCTGGAAGACTTTGCCCATGCTTAGGGAAATGTTCCTCCACGACCCCAAAGAGCTTTGCCCTTCAGGCCCCGGGCGAGAACGAGATAAATATGCTTAGTACTTGCTCTCACTTTGAACTTGGTAAATTTCAATCCCAAACCACCCCTGAGAGCCTGTCTGGAGACACTTGGCTCCTTTAAGAAGAGAGGCCCCACAGGGTTGGAGAAGATCAACAGCCCAAGGAATTACCTTCTGCTCTCCTGCTGTCTCACAAATAGCTCTGTCAGCTGGGGGCCTGAGCACTGGAACTGGCAAAGCACCCCTGTGGAATGAGAATGGACTCCTTCCTTGGGGAAGAGTACACTCCTCTTTTGTTTTTTTGGCCCTAGGGACTATAGAATCGAGTTCCGCATTTTTGATGTAATTTGACATTTGCAGGGTTCTCAAGACCTCCAACAGCGCTGAGCCCAGGAGTTGGATTGGGCTACTGGCTACTAGGTGATTAGGAAGTGAGGATTTCATGCCCCAGATCCTAAATAGGGGATCACAAACTTTGCAGGTCTGTGAGAGGCTATTTTCCTCTTGCCACGATTCGCCAGTGGCGCGTGGTTCGCCAGTGGTGCGTGGTTCGCCAGTGGTGCATGGTTCGCCAGTGGCCCGCAGTCTGGAACACCATAACTGGTGGGTACAATGACATTCCCTGGGTTCTTCTTTCTCCCTGCTCCACTGCTGCCAGATTGTGTTTTGCTGCTGCTTTTTTTTTTCCCCCAAGACGGGGTCTTGTACTGTTGCTCAGGCTGGCCTTGAACTCCTGACCTCAATGGATCCTTCTGTGTCAGCCTTTTGAGTAGCTAGGATCACAGGCGTGAGCCAGCACATCTGGCTCAGGCTGTGGTTTGTGCCCTCAGTTTACCATGAATTGCCAGGCATTCATTCATCTCTGATCCTTGGAGTGGTGTGTGGCTGTTCCCTGATCTAGGGGACTGGTGTCACCAGAACGGCTTTCCTCACCCACACCAAACTGTCCAGGGTTCGCTCTGTGCTTCTCCTACCTGGGATGAGAGAACTAGAACAGCAACAACCACCCTTCCCTGGGATGACTTTGGTAAATTTCACCCTTTGAGCAGCTCTGTAAAGCCTGCTGGGGATGTTCCTTTAAGAAGAGGAATACTAAAAAGCCCACCGAATTTCAGATGAGGCTTCCCACTCCTCTTACTGTTTTGCAAATGTCTTTCTCTGCCTGAAGCCTCCGCTTTGGGGCTAGCAAAGCGCCCTCCTGGCCCCCTCCGCCCTGAGGGAGACTTGCTGTCCTCTCTTCTTTTCATCTCTGGGGGCCAAGGAATTGAATTTTGGGGTATTTGAGGAGATTTGGCATCTGCAGCTTCATGCCAAGATGCTAACTACTCCTTGGACAAGAGAGCACATAGTCCTACCACTGAACTGGGTTTGCCAGTAGCCCGCGGTTCGCCATTTGCCCGCGGTTCTCTGATACACTTTAATTTGCTACAAAGGATCTGAGCTGCCCTGACCTGCTAGGCTTCCTGGCCCTTCCCTGCACCATCATTCCCTGTGATTCACCACACTTCACCCTGGTTTGCAACTTAATGCGTCTCTGAGATTCTCAGATCCGCAGGTTATCATTGCGGGGTATCTGTGTGAAATAATGCCAACCACTAATCCCAGGTAACTTTTTGCACCCTTTCGAGTATTTGCTGAAATTCTGCAGTAGGAATTGCCCCAGACCTTCATCCTGGCTTAGGGAAACCGTTCTGAGGGTCCCAAAGACCCAGTTCTCCCGTCGAAAACCCACCTGTGACCCCAGTTCTTTTCCTTGATGGTTTTTGCAACCCTGACCTGCTCAGTGAGTGAGAGGTGCCAGCCAGTCTGGTGTTCTGTAAAACTGGAGAACGGAAGACCCATTTCCTAGCATTGTTGTACTGAATAAATGGAATGAATTTCATGGTATAGTTACTGAAAACACTACGAATTGTATAAGCATTTTGGTACCCATTCCCCTTCAGAACCACAAAATCCCTGATCTGCAGCTGGGGCTTGGGCGACCACACTACACTAGCTTTTCTTCATGTGTGGGGTGGACAGGTGAACCAGGTGAACTCTGCTCGGGTAGCTCCTTAATGTCTTGTGTCCACTCTGAGGTCATCCCATGTGGGATAAGGCAGGATAAGAAAAGCAACAACCATCCTCCCTGCCACCCCAAGATGAACTCTGTAAATTCTGTTCCTTACAGCCTGCCTAGGGACACCCTGTTTTTTTTTTTTTTAATGGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCATGCCTGGATAATTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTTGGCCTGAACACCCTGTTTTTTAAGAAGAGTAAGATAGGGTAGAGTTTAAAAGACTAAATAAAGAAAAAAAAAGAAAAGAAAGAAGGAAAAAACCAACTTGAACACTCTTGAACATCAGGGATGGGGCTACCCCCACCTGGCGCTGCTTGTTATGTAAATGACTCTCACCCGAGGAGGCCGGCAGATGCACCTGGCAGCTGGCTTGATCTTCCCTGAGAATGAAACCTGCTTTAGGTCTGAGTCTGAGTTATTGAATTTTGGGGTCTCTGAGGAGATTGACACCTTTAGCTTCACCCCAAGACTGCTAGCTCCTCCGCGTCCCCAAGTAGAGGGTGGGCAGCTGGGCATCTTGGGAACTGGGGCATTGTTTACACCCCAGGCTGGAATTGCTAAGAGTTTGTGGATCTGTGAGAAATGACTTCGCTCACTGGGCTGGGCCTTGCCAGTTGCCTGTGGTTCACCAGTTGCCCGCGGCTCACCAGTTGCCCGCGACTCACCAGGTGCCTGCGGCTCACCAGTTGCCTGTGGCTCACCAGCTGCCCGTGGCTCACCAGCTGCCCGTGGCTTACAGTTGCCCGAGGCTCACAGTTGCCCATGGCTTGCTAATTGCCAGCGATTTGCCAATTGCGAGTGGTTCGCCAGTTGCCCGCGGTCCGCTAAACCCGTAATCCTGTGGTACTGTAACTGGCCACAATGGACTCGCCCTTTAGGCTTCCCGGCCCTCTTTTGCCCAAATGCAGTTCTCAGCAGTGCAGTTCACTGTGATTCACCACAATTCGCCATGGTTTGTGATTTCATGGGTCTTGGTGATTCTCAGACCACAGGTTATCTACGGTCCTCAGGCAACTTCCTGCTTGCCCATTTGGAGGAAAGCTGCTGCCAAATTGCTCCAGGCTTGTGTCCTGCACCTCCCCCATCCGAAACTCTACATTTCAAGAGAAATGGAATCTTGATGCTTAGGCAACCCTCCCCCAATGCTCTTGGTTACAATGAATTAGCCAGAACTCAGCCCAAGGAATCCCTGCTGGAGGCCAATGGTGGGGGATGGTGGAGACAGAAGTGGGAAGGGCGGCACCTCCCATGCCCAGGTCCGCTTCTGCGCTCTCTGAGCTGTTTGAGCAGAGGTGGTGGAGACTGGGGGTCCTATCATTGAGGACTAGGTGGGTGTGGTACTTCTGCAGGCGCAACCCTGAGCTATCATAAACTGCAGCCCCAGCCTCATTCTCATTCCAACACACAAGAGCGCGCCATGGCCACACGCACACTCACACGTATAACGCACATGCACACTTTTGTCTGGAGCAGCTCCATCGCCATGAGATACATATTGATTGTTTCCTGGATCAAAAGGTGCAGGGGCTCAAGCTGTGTGTTGTCTGAGGAGGAGAATGAGTTATTCCTGTTCCCCGCCACTGGACAGAACTGTGGATCTTGCTTTTCCAAAGGGGAGAGCAGCAAGGCTGTCAGGAGACAGAAGAGGCTGGGAAGACCCGAGCTCACTGGGCAGAGGACCCCTTGGTTCTGTGGCCCCTGAAGCAACTGTCTCAGTGGGATGAGGTTTTTGGGACAGTGGTGTCTCTCTCGGGGAGAAGTCATAGCTTGAAGAATTCTCCTCCGCCCTTGACTTGCCCTACCTTCCCTGAGCTCTTTGTCATCTTGTTTGTGTCAAAAAGGGTGGATCTTGTCCTCTGTTTGAAGCAAGAAAAGGAAGTATCTGAGTGGTTAGCCCTGAGGGAGCCTTTTCCTTTTGACCTTTGACATTTGATCTGTTGCCAGTGATGGCAGGAGAGAGATGACGCTACAGGACCCGGCATGGCAGGGCCCCGGTGCTGGGCCTACTTGTCCTCTTAATGTCTCCTTCTCAAGCTGGTCACTTCCCTTGGGGCAGTGGAAGGAGGAGAATGACCTGGATGGCCAGATTGGCACTATCTCAGTGCTCCCATACAGAGCTGGGGCAAGTCTCTGGGCCTCTGTAAACCTCTCTTGAGGCATCTGTAAAAGTGGAGGATGGAAGCTCTGTTGGGGAGGATTTGGTAGTAAAAATAAATTTTAAGAGGAGTCCCGAACTAGTAGCACAGGGAACCCTAAAGAGCCCTGCTCTCCACTGGATGGAGAGCTGGCTCTTCCCAGGTCCCAGGAGGCAACACCGACTTTGCTGAGTCCCAAGCCTATCATGGGCTTTCCCACCCAGCCTGGGGCAAGGAGTGGAATACGCTTAGCCCAGGCAATGGATGGAAGCAAACTCCCCCAAGGAAGGTGGTATTAGTCTCCCTGGCCATTCCCAGTTGGAGTTGATTTGTTCCTTTAAGAAGGGGAAGGATTCTCGAGCACTGGAGTTTTCAGGTCCCCTCCCAGTCTTGAAAGTTTGCAAATGACTCTGTTTTGCGGGAGGGCTGAGGCTGAAGTCCTGTCCATCTCTATCCTCTGACTCTGAGGACTGAAGACTGGGCTTTAG	T	G100804359T	-	NR_039729.1(MIR2392):n.-10132_-1575del	noncoding	Pathogenic
14	101964369	CT	C	T101964370G	DYNC1H1	Single_allele	noncoding	Benign
14	101995610	CA	C	A101995627T	DYNC1H1	NM_001376.5(DYNC1H1):c.3564+327del	noncoding	Benign
14	102000573	C	CT	G102000592T	DYNC1H1	NM_001376.5(DYNC1H1):c.4074+192dup	noncoding	Benign
14	102009505	CT	C	T102009519G	DYNC1H1	NM_001376.5(DYNC1H1):c.5978-324del	noncoding	Benign
14	102010261	TTTC	T	C102010267T	DYNC1H1	NM_001376.5(DYNC1H1):c.6222-9_6222-7del	noncoding	Benign/Likely_benign
14	102017544	C	CAGCT	C102017549A	DYNC1H1	NM_001376.5(DYNC1H1):c.8177+41_8177+44dup	noncoding	Benign
14	102018714	AT	A	T102018718G	DYNC1H1	NM_001376.5(DYNC1H1):c.8343+102del	noncoding	Benign
14	102030057	A	AGTGTGTGTGTGT	T102030078G	DYNC1H1	NM_001376.5(DYNC1H1):c.9763-104GT[16]	noncoding	Benign
14	102030057	A	AGTGTGTGTGT	T102030078G	DYNC1H1	NM_001376.5(DYNC1H1):c.9763-104GT[15]	noncoding	Benign
14	102032917	AC	A	C102032919A	DYNC1H1	NM_001376.5(DYNC1H1):c.10080-146del	noncoding	Benign
14	102038624	T	TC	A102038629C	DYNC1H1	NM_001376.5(DYNC1H1):c.11055+22dup	noncoding	Benign
14	102039271	TGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGC	T	G102039272A	DYNC1H1	NM_001376.5(DYNC1H1):c.11460+18_11460+57del	noncoding	Benign
14	102039830	CTTTTATTTTCTT	C	T102039832A	DYNC1H1	NM_001376.5(DYNC1H1):c.11690+100_11690+111del	noncoding	Benign
14	102040200	TGA	T	G102040205C	DYNC1H1	NM_001376.5(DYNC1H1):c.11691-35GA[2]	noncoding	Benign
14	102044266	TC	T	C102044271A	DYNC1H1	NM_001376.5(DYNC1H1):c.12685-3del	noncoding	Benign
14	102044727	AGGGTGGGTGGCGAGGGTCCCCTCACGCG	A	T102044749A	DYNC1H1	NM_001376.5(DYNC1H1):c.13006+51_13006+78del	noncoding	Benign
14	102084823	ATCT	A	C102084840G	HSP90AA1	NM_005348.4(HSP90AA1):c.821AGA[5]:p.Lys279del	coding	Pathogenic
14	102376745	T	TA	C102376747A	TECPR2	NM_014844.5(TECPR2):c.25dup:p.Thr9fs	coding	Pathogenic
14	102376751	CAG	C	A102376756T	TECPR2	NM_014844.5(TECPR2):c.35_36del:p.Glu12fs	coding	Pathogenic
14	102407336	AG	A	G102407340A	TECPR2	NC_000014.8:g.102873674del	noncoding	Pathogenic
14	102425012	ACT	A	C102425015G	TECPR2	NM_014844.5(TECPR2):c.675_676del:p.Leu225_Cys226insTer	coding	Pathogenic
14	102425214	GT	G	T102425217C	TECPR2	NM_014844.5(TECPR2):c.877del:p.Ser293fs	coding	Pathogenic
14	102425564	T	TTTG	A102425595T	TECPR2	NM_014844.5(TECPR2):c.951+274TTG[11]	noncoding	Benign
14	102431862	CA	C	A102431863G	TECPR2	NM_014844.5(TECPR2):c.1152del:p.Ala386fs	coding	Pathogenic
14	102431868	CCA	C	C102431871G	TECPR2	NM_014844.5(TECPR2):c.1160_1161del:p.Thr387fs	coding	Pathogenic
14	102432298	T	TACAC	T102432323A	TECPR2	NM_014844.5(TECPR2):c.1417+171AC[14]	noncoding	Benign
14	102432298	T	TAC	T102432323A	TECPR2	NM_014844.5(TECPR2):c.1417+171AC[13]	noncoding	Benign
14	102434646	GCA	G	C102434651G	TECPR2	NM_014844.5(TECPR2):c.1834_1835del:p.Gln612fs	coding	Pathogenic
14	102443511	G	GT	A102443521T	TECPR2	NM_014844.5(TECPR2):c.2753-127dup	noncoding	Benign
14	102445855	ACT	A	C102445860G	TECPR2	NM_014844.5(TECPR2):c.2988_2989del:p.Trp997fs	coding	Pathogenic
14	102450636	TC	T	C102450639A	TECPR2	NM_014844.5(TECPR2):c.3396del:p.Thr1133fs	coding	Pathogenic
14	102452453	GCA	G	C102452456G	TECPR2	NM_014844.5(TECPR2):c.3469_3470del:p.Gln1157fs	coding	Pathogenic
14	102465233	CCT	C	T102465237A	TECPR2	NM_014844.5(TECPR2):c.3737_3738del:p.Leu1246fs	coding	Pathogenic
14	102497578	GC	G	C102497580T	TECPR2	NM_014844.5(TECPR2):c.3942del:p.Cys1315fs	coding	Pathogenic
14	102928759	CGA	AG	C102928759A	AMN	NM_030943.4(AMN):c.297_299delinsAG:p.Glu100fs	coding	Pathogenic
14	102929951	GTGTC	G	T102929952C	AMN	NM_030943.4(AMN):c.872_875del:p.Val291fs	coding	Pathogenic
14	102930094	CGCCCGCCCCATCCCGCCCCGCCGCGCCTCGCCCCGCCGCGGGGAAGACTGAGCCGGCCCCTCCGTCGCAG	C	C102930097G	AMN	NM_030943.4(AMN):c.1006+11_1008del	noncoding	Pathogenic
14	102930107	CCGCCCCGCCGCGCCT	C	C102930120G	AMN	NM_030943.4(AMN):c.1006+34_1007-31del	noncoding	Pathogenic
14	102930507	A	AG	A102930514G	AMN	NM_030943.4(AMN):c.1257+20dup	noncoding	Benign
14	102930656	C	CGCCGGG	A102930667G	AMN	NM_030943.4(AMN):c.1343_1348dup:p.Gly448_Ala449dup	coding	Benign
14	103561146	G	GT	G103561149T	BAG5	NM_001015048.3(BAG5):c.18dup:p.His7fs	coding	Pathogenic
14	103562851	C	CCCG	C103562860G	COA8	Single_allele	noncoding	Benign
14	103563089	C	CGCGGCGCCGAGCGCAGGGAT	A103563110G	COA8	NM_001370595.2(COA8):c.89_108dup:p.Thr37fs	coding	Pathogenic
14	103574078	C	CT	A103574104T	COA8	NM_001370595.2(COA8):c.322-4dup	noncoding	Benign
14	103574078	C	CTT	A103574104T	COA8	NM_001370595.2(COA8):c.322-5_322-4dup	noncoding	Benign
14	103574078	CT	C	T103574103A	COA8	NM_001370595.2(COA8):c.322-4del	noncoding	Benign
14	103574078	CTT	C	T103574102A	COA8	NM_001370595.2(COA8):c.322-5_322-4del	noncoding	Benign
14	103574078	CTTT	C	T103574101A	COA8	NM_001370595.2(COA8):c.322-6_322-4del	noncoding	Benign
14	104032059	C	CAT	G104032063T	TDRD9	NM_153046.3(TDRD9):c.3483_3484dup:p.Ser1162fs	coding	Pathogenic
14	104703087	C	CCCACT	C104703097T	INF2	NM_022489.4(INF2):c.392-13_392-9dup	noncoding	Benign
14	104703775	GATGTCT	G	A104703776C	INF2	NM_022489.4(INF2):c.668-140_668-135del	noncoding	Benign
14	104708394	C	CG	C104708399G	INF2	NM_022489.4(INF2):c.1736-38dup	noncoding	Benign
14	104708901	CT	C	T104708902G	INF2	NM_022489.4(INF2):c.1949+170del	noncoding	Benign
14	104710356	CG	C	G104710358T	INF2	NM_022489.4(INF2):c.2239+170del	noncoding	Benign
14	104711015	AG	A	G104711019C	INF2	NM_022489.4(INF2):c.2310+12del	noncoding	Benign
14	104718746	TAC	T	A104718747C	INF2	NM_022489.4(INF2):c.*2-48_*2-47del	noncoding	Benign
14	104735058	GAA	G	A104735060G	ADSS1	NM_152328.5(ADSS1):c.233_234del:p.Lys78fs	coding	Pathogenic
14	104741184	G	GC	A104741192C	ADSS1	NM_152328.5(ADSS1):c.741dup:p.Lys248fs	coding	Pathogenic
14	104741195	AAGATCCTGGT	A	A104741196G	ADSS1	NM_152328.5(ADSS1):c.746_755del:p.Lys249fs	coding	Pathogenic
14	104744810	AG	A	G104744812C	ADSS1	NC_000014.8:g.105211148del	noncoding	Pathogenic
14	104770430	TA	T	A104770431G	AKT1	NM_001382430.1(AKT1):c.1364-11del	noncoding	Benign
14	104770689	CCTCT	C	C104770692G	AKT1	NM_001382430.1(AKT1):c.1363+52_1363+55del	noncoding	Benign
14	104772254	CCTGAG	C	C104772255G	AKT1	NM_001382430.1(AKT1):c.1260+106_1260+110del	noncoding	Benign
14	104776786	GCCTCTGT	G	C104776788T	AKT1	NM_001382430.1(AKT1):c.176-23_176-17del	noncoding	Benign
14	105151324	CACTCAAA	C	A105151325G	JAG2	NM_002226.5(JAG2):c.1219_1225del:p.Phe407fs	coding	Pathogenic
14	105226672	A	AG	T105226680G	BRF1	NM_001519.4(BRF1):c.876dup:p.Ser293fs	coding	Pathogenic
14	105352472	GTCTT	G	T105352475A	PACS2	NM_001100913.3(PACS2):c.297+8_297+11del	noncoding	Benign
14	105352587	GC	G	C105352593T	PACS2	NM_001100913.3(PACS2):c.297+126del	noncoding	Benign
14	105382060	TG	T	G105382065T	PACS2	NM_001100913.3(PACS2):c.1413+7del	noncoding	Benign
14	105382586	AG	A	G105382590C	PACS2	NM_001100913.3(PACS2):c.1518+9del	noncoding	Benign
14	105384333	GC	G	C105384337A	PACS2	NM_001100913.3(PACS2):c.1781-16del	noncoding	Benign
14	105384862	GC	G	C105384864T	PACS2	NM_001100913.3(PACS2):c.1892-15del	noncoding	Benign
14	105394661	G	GCCACCTTCTAGCCCCACCCACCAGGGGGC	C105394697T	PACS2	NM_001100913.3(PACS2):c.2711_*24dup:p.Ala902_Ter905=	coding	Benign
14	105643209	A	AC	G105643213C	IGHG2	NG_001019.6:g.1237135dup	noncoding	Pathogenic
14	105855621	CTT	C	T105855623G	IGHM	NG_001019.6:g.1024722_1024723del	noncoding	Pathogenic
15	22866845	TAAGA	T	A22866849G	NIPA2	NM_030922.7(NIPA2):c.*2_*5del:p.Ter361=	coding	Benign
15	22866916	G	GA	C22866923A	NIPA2	NM_030922.7(NIPA2):c.*75dup	noncoding	Benign
15	23030601	TA	T	A23030619G	TUBGCP5	NM_052903.6(TUBGCP5):c.622+283del	noncoding	Benign
15	23644672	GC	G	C23644675T	MAGEL2	NM_019066.5(MAGEL2):c.3070del:p.Ala1024fs	coding	Pathogenic
15	23644698	C	CT	G23644700T	MAGEL2	NM_019066.5(MAGEL2):c.3044dup:p.Pro1016fs	coding	Pathogenic
15	23645131	GC	AA	G23645131A	MAGEL2	NM_019066.5(MAGEL2):c.2611_2612delinsTT:p.Ala871Phe	coding	Benign
15	23645526	CG	C	G23645527A	MAGEL2	NM_019066.5(MAGEL2):c.2216del:p.Ser738_Ser739insTer	coding	Pathogenic
15	23645643	C	CG	T23645649G	MAGEL2	NM_019066.5(MAGEL2):c.2099dup:p.Val701fs	coding	Pathogenic
15	23645752	G	GA	G23645753A	MAGEL2	NM_019066.5(MAGEL2):c.1990_1991insT:p.Pro664fs	coding	Pathogenic
15	23645944	ATC	A	T23645947G	MAGEL2	NM_019066.5(MAGEL2):c.1797_1798del:p.Glu599fs	coding	Pathogenic
15	23646336	TGGGGCCTGGCGGATCACAGCG	T	A23646354G	MAGEL2	NM_019066.5(MAGEL2):c.1386_1406del:p.Ala463_Pro469del	coding	Benign/Likely_benign
15	25339053	A	ATCCC	G25339060C	UBE3A	NM_130839.5(UBE3A):c.*80_*83dup	noncoding	Pathogenic
15	25339187	CTTTAAG	C	A25339191T	UBE3A	NM_130839.5(UBE3A):c.2563_2568del:p.Leu855_Lys856del	coding	Pathogenic
15	25339224	A	AAGCACATTAAAGCAAGT	T25339243G	UBE3A	NM_130839.5(UBE3A):c.2515_2531dup:p.Leu846fs	coding	Pathogenic
15	25339275	G	GA	C25339283A	UBE3A	NM_130839.5(UBE3A):c.2499-19dup	noncoding	Benign
15	25340149	C	CTCTG	G25340159C	UBE3A	NM_130839.5(UBE3A):c.2430_2433dup:p.Ala812fs	coding	Pathogenic
15	25340197	CT	C	T25340198G	UBE3A	NM_130839.5(UBE3A):c.2385del:p.Asp796fs	coding	Pathogenic
15	25340226	TC	T	C25340229T	UBE3A	NM_000462.3(UBE3A):c.2365delG	coding	Pathogenic
15	25354463	ATAC	A	A25354468G	UBE3A	NM_130839.5(UBE3A):c.2281-40_2281-38del	noncoding	Benign
15	25354641	C	CTGATT	A25354648G	UBE3A	NM_130839.5(UBE3A):c.2162_2166dup:p.Val723fs	coding	Pathogenic
15	25354939	ACTT	A	C25354943A	UBE3A	NM_130839.5(UBE3A):c.2125-259_2125-257del	noncoding	Benign
15	25370771	GT	G	T25370774C	UBE3A	NM_130839.5(UBE3A):c.1402del:p.Thr468fs	coding	Pathogenic
15	25370853	TAAG	GTTTAT	T25370853G	UBE3A	NM_130839.5(UBE3A):c.1318_1321delinsATAAAC:p.Leu440fs	coding	Pathogenic
15	25375654	GA	G	A25375658G	UBE3A	NM_130839.5(UBE3A):c.171del:p.Leu58fs	coding	Pathogenic
15	25375828	TATC	T	T25375833A	UBE3A	NM_130839.5(UBE3A):c.63-68_63-66del	noncoding	Benign
15	25405167	AAACTC	A	A25405173T	UBE3A	NM_130839.5(UBE3A):c.62+289_62+293del	noncoding	Benign
15	25405548	C	CA	G25405558A	UBE3A	NM_130839.5(UBE3A):c.21-55dup	noncoding	Benign
15	25409523	TA	T	A25409537T	UBE3A	NM_130839.5(UBE3A):c.-100-317del	noncoding	Benign
15	25427795	GAA	G	A25427815G	UBE3A	NM_130839.5(UBE3A):c.-165+10692_-165+10693del	noncoding	Benign
15	25427795	GA	G	A25427816G	UBE3A	NM_130839.5(UBE3A):c.-165+10693del	noncoding	Benign
15	25437850	A	AG	A25437859G	UBE3A	NM_130839.5(UBE3A):c.-165+631dup	noncoding	Benign
15	26548146	GA	G	A26548150T	GABRB3	NM_000814.6(GABRB3):c.1081-13del	noncoding	Benign
15	26621076	TTA	T	T26621081C	GABRB3	NM_000814.6(GABRB3):c.461+232TA[2]	noncoding	Benign
15	26621165	A	AT	C26621175T	GABRB3	NM_000814.6(GABRB3):c.461+140dup	noncoding	Benign
15	26621368	ACT	A	C26621369G	GABRB3	NM_000814.6(GABRB3):c.405_406del:p.Val136fs	coding	Pathogenic
15	26621400	AT	A	T26621403A	GABRB3	NM_000814.6(GABRB3):c.374del:p.Asn125fs	coding	Pathogenic
15	26621536	TG	T	G26621542A	GABRB3	NM_000814.6(GABRB3):c.241-3del	noncoding	Benign
15	26621536	T	TG	A26621543G	GABRB3	NM_000814.6(GABRB3):c.241-3dup	noncoding	Benign
15	26628673	C	CAA	C26628682A	GABRB3	NM_000814.6(GABRB3):c.241-7147_241-7146dup	noncoding	Benign
15	26773040	TGCC	T	C26773061G	GABRB3	NM_000814.6(GABRB3):c.-99GGC[6]	coding	Benign
15	27845034	CCAAT	C	A27845037G	OCA2	NM_000275.3(OCA2):c.2353_2356del:p.Ile785fs	coding	Pathogenic
15	27851383	TC	T	C27851386A	OCA2	NM_000275.3(OCA2):c.2336del:p.Gly779fs	coding	Pathogenic
15	27870810	A	AAG	A27870822G	OCA2	NM_000275.3(OCA2):c.2244+334CT[6]	noncoding	Benign
15	27870894	CA	C	A27870895G	OCA2	NM_000275.3(OCA2):c.2244+259del	noncoding	Benign
15	27870955	A	AG	C27870957G	OCA2	NM_000275.3(OCA2):c.2244+198dup	noncoding	Benign
15	27871172	G	GA	T27871174A	OCA2	NM_000275.3(OCA2):c.2225dup:p.Phe744fs	coding	Pathogenic
15	27871788	C	CT	A27871800T	OCA2	NM_000275.3(OCA2):c.2139+64dup	noncoding	Benign
15	27871866	TA	T	A27871867T	OCA2	NM_000275.3(OCA2):c.2135del:p.Ile712fs	coding	Pathogenic
15	27871906	TGGAGATGTGC	T	G27871907C	OCA2	NM_000275.3(OCA2):c.2086_2095del:p.Ala696fs	coding	Pathogenic
15	27926154	AA	C	A27926154C	OCA2	NM_000275.3(OCA2):c.2051_2052delinsG:p.Phe684fs	coding	Pathogenic
15	27926462	C	CT	A27926463T	OCA2	NM_000275.3(OCA2):c.1952-209_1952-208insA	noncoding	Benign
15	27951854	C	CA	G27951856A	OCA2	NM_000275.3(OCA2):c.1880dup:p.Thr628fs	coding	Pathogenic
15	27955191	AT	A	T27955196G	OCA2	NM_000275.3(OCA2):c.1808del:p.Asn603fs	coding	Pathogenic
15	27955210	ATCTG	A	G27955214A	OCA2	NC_000015.9:g.28200357_28200360del	coding	Pathogenic
15	27966770	AC	A	C27966771A	OCA2	NM_000275.3(OCA2):c.1555del:p.Val519fs	coding	Pathogenic
15	27985081	G	GA	G27985084A	OCA2	NM_000275.3(OCA2):c.1346dup:p.Thr450fs	coding	Pathogenic
15	27989317	A	AT	A27989326T	OCA2	NM_000275.3(OCA2):c.1182+276dup	noncoding	Benign
15	27990629	CCAGAGTT	C	A27990631T	OCA2	NM_000275.3(OCA2):c.1056_1062del:p.Thr353fs	coding	Pathogenic
15	28014869	CA	C	A28014873G	OCA2	NM_000275.3(OCA2):c.950del:p.Leu316_Leu317insTer	coding	Pathogenic
15	28014903	GC	G	C28014906G	OCA2	NM_000275.3(OCA2):c.916del:p.Ala306fs	coding	Pathogenic
15	28016171	T	TGA	C28016172G	OCA2	NM_000275.3(OCA2):c.822_823insTC:p.Thr275fs	coding	Pathogenic
15	28018097	CA	C	A28018113G	OCA2	NM_000275.3(OCA2):c.807+299del	noncoding	Benign
15	28022387	G	GTGGGTGAGAA	T28022391G	OCA2	NM_000275.3(OCA2):c.646+113_646+114insCCATTCTCAC	noncoding	Benign
15	28032116	GA	G	A28032118T	OCA2	NM_000275.3(OCA2):c.274del:p.Ser92fs	coding	Pathogenic
15	28081711	GC	G	C28081717T	OCA2	NM_000275.3(OCA2):c.163del:p.Ala55fs	coding	Pathogenic
15	28081717	CT	C	T28081718G	OCA2	NM_000275.3(OCA2):c.157del:p.Arg53fs	coding	Pathogenic/Likely_pathogenic
15	28081752	TC	T	C28081756G	OCA2	NM_000275.3(OCA2):c.122del:p.Gly41fs	coding	Pathogenic
15	28081796	CGCTGG	C	T28081799A	OCA2	NM_000275.3(OCA2):c.74_78del:p.Pro25fs	coding	Pathogenic
15	30914322	C	CT	C30914325T	FAN1	NM_014967.5(FAN1):c.1811+233dup	noncoding	Benign
15	30922219	GTTA	G	A30922222G	FAN1	NM_014967.5(FAN1):c.2053-13_2053-11del	noncoding	Benign
15	30925217	GA	G	A30925218G	FAN1	NM_014967.5(FAN1):c.2264del:p.Glu755fs	coding	Pathogenic
15	30928506	T	TTG	A30928541T	FAN1	NM_014967.5(FAN1):c.2489-46TG[18]	noncoding	Benign
15	30928506	T	TTGTG	A30928541T	FAN1	NM_014967.5(FAN1):c.2489-46TG[19]	noncoding	Benign
15	30928506	T	TTGTGTG	A30928541T	FAN1	NM_014967.5(FAN1):c.2489-46TG[20]	noncoding	Benign
15	30928506	T	TTGTGTGTG	A30928541T	FAN1	NM_014967.5(FAN1):c.2489-46TG[21]	noncoding	Benign
15	30928506	T	TTGTGTGTGTG	A30928541T	FAN1	NM_014967.5(FAN1):c.2489-46TG[22]	noncoding	Benign
15	30937447	CT	C	T30937469G	FAN1	NM_014967.5(FAN1):c.*3+210del	noncoding	Benign
15	31026229	A	AACTCATGCAGCCTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC	A31026247T	TRPM1	NM_001252024.2(TRPM1):c.3538_3539insGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGCATGAGT:p.Phe1180Ter	coding	Pathogenic
15	31026946	TTC	T	C31026952T	TRPM1	NM_001252024.2(TRPM1):c.3463_3464del:p.Glu1155fs	coding	Pathogenic
15	31026994	GA	G	A31026995T	TRPM1	NM_001252024.2(TRPM1):c.3416del:p.Ile1139fs	coding	Pathogenic
15	31027133	A	AT	A31027139T	TRPM1	NM_001252024.2(TRPM1):c.3294-17dup	noncoding	Benign
15	31028483	G	GA	T31028491A	TRPM1	NM_001252024.2(TRPM1):c.3149-8dup	noncoding	Benign
15	31031004	C	CCT	C31031010T	TRPM1	NM_001252024.2(TRPM1):c.3104_3105dup:p.Val1036fs	coding	Pathogenic
15	31032715	GC	G	C31032719A	TRPM1	NM_001252024.2(TRPM1):c.2925del:p.Pro976fs	coding	Pathogenic
15	31050521	GGTGGCTTCTTCTCCTTCTCC	G	C31050529T	TRPM1	NM_001252024.2(TRPM1):c.1305_1324del:p.Glu436fs	coding	Pathogenic
15	31060526	G	GA	C31060535A	TRPM1	NM_001252024.2(TRPM1):c.1263+10dup	noncoding	Benign
15	31061691	G	GT	G31061702T	TRPM1	NM_001252024.2(TRPM1):c.1090-187dup	noncoding	Benign
15	31066102	T	TCGCAG	G31066103C	TRPM1	NM_001252024.2(TRPM1):c.763_764insCTGCG:p.His255fs	coding	Pathogenic
15	31067056	CACTT	C	T31067059A	TRPM1	NM_001252024.2(TRPM1):c.618+3_618+6del	noncoding	Pathogenic
15	31067889	AC	A	C31067894G	TRPM1	NM_001252024.2(TRPM1):c.482del:p.Gly161fs	coding	Pathogenic
15	31068035	CT	C	T31068038C	TRPM1	NM_001252024.2(TRPM1):c.336del:p.Asp113fs	coding	Pathogenic
15	31484007	TGGC	T	G31484026A	OTUD7A	NM_001382637.1(OTUD7A):c.2068GCC[6]:p.Ala696del	coding	Benign
15	32101283	C	CT	G32101299T	CHRNA7	NM_000746.6(CHRNA7):c.196-5dup	noncoding	Benign
15	32101283	C	CTT	G32101299T	CHRNA7	NM_000746.6(CHRNA7):c.196-6_196-5dup	noncoding	Benign
15	32101283	CT	C	T32101298G	CHRNA7	NM_000746.6(CHRNA7):c.196-5del	noncoding	Benign
15	32101457	A	AAG	A32101459G	CHRNA7	NM_000746.6(CHRNA7):c.240+111_240+112insGA	noncoding	Benign
15	32158289	C	CT	A32158302T	CHRNA7	NM_000746.6(CHRNA7):c.599-111dup	noncoding	Benign
15	32158289	CT	C	T32158301A	CHRNA7	NM_000746.6(CHRNA7):c.599-111del	noncoding	Benign
15	32158289	CTTT	C	T32158299A	CHRNA7	NM_000746.6(CHRNA7):c.599-113_599-111del	noncoding	Benign
15	32719539	TC	T	C32719544T	GREM1	NM_013372.7(GREM1):c.-2+1383del	noncoding	Benign
15	32723626	TAA	T	A32723640G	GREM1	NM_013372.7(GREM1):c.-2+5479_-2+5480del	noncoding	Benign
15	32723626	TA	T	A32723641G	GREM1	NM_013372.7(GREM1):c.-2+5480del	noncoding	Benign
15	32724628	CT	C	T32724639C	GREM1	NM_013372.7(GREM1):c.-1-6051del	noncoding	Benign
15	32728517	TTTTAA	T	A32728521G	GREM1	NM_013372.7(GREM1):c.-1-2169_-1-2165del	noncoding	Benign
15	32729381	AGTCT	A	T32729387A	GREM1	NM_013372.7(GREM1):c.-1-1303_-1-1300del	noncoding	Benign
15	32729854	G	GAA	T32729855A	GREM1	NM_013372.7(GREM1):c.-1-836_-1-835insAA	noncoding	Benign
15	32774521	CCCTA	C	C32774526T	FMN1	NM_001277313.2(FMN1):c.4216-171_4216-168del	noncoding	Benign
15	32776687	CT	C	T32776705A	FMN1	NM_001277313.2(FMN1):c.4215+147del	noncoding	Benign
15	32776688	T	TTC	T32776690C	FMN1	NM_001277313.2(FMN1):c.4215+146_4215+147insAG	noncoding	Benign
15	32804423	AGGAGGTCTG	A	G32804424A	FMN1	NM_001277313.2(FMN1):c.3929-100_3929-92del	noncoding	Benign
15	32804434	ATTCGGGGGGG	A	T32804435G	FMN1	NM_001277313.2(FMN1):c.3929-112_3929-103del	noncoding	Benign
15	32804434	ATTCGGGGGGGG	A	T32804435G	FMN1	NM_001277313.2(FMN1):c.3929-113_3929-103del	noncoding	Benign
15	32887984	GAGA	G	G32887989T	FMN1	NM_001277313.2(FMN1):c.3835+185_3835+187del	noncoding	Benign
15	32899785	G	GAA	C32899797A	FMN1	NM_001277313.2(FMN1):c.3654+183_3654+184dup	noncoding	Benign
15	32899785	G	GA	C32899797A	FMN1	NM_001277313.2(FMN1):c.3654+183dup	noncoding	Benign
15	32899794	AAACC	A	C32899797A	FMN1	NM_001277313.2(FMN1):c.3654+181_3654+184del	noncoding	Benign
15	32908603	CAAAA	C	A32908620G	FMN1	NM_001277313.2(FMN1):c.3289-29_3289-26del	noncoding	Benign
15	32908603	CAAA	C	A32908621G	FMN1	NM_001277313.2(FMN1):c.3289-28_3289-26del	noncoding	Benign
15	32908603	CAA	C	A32908622G	FMN1	NM_001277313.2(FMN1):c.3289-27_3289-26del	noncoding	Benign
15	32908603	CA	C	A32908623G	FMN1	NM_001277313.2(FMN1):c.3289-26del	noncoding	Benign
15	32908603	C	CAA	G32908624A	FMN1	NM_001277313.2(FMN1):c.3289-45_3289-44dup	noncoding	Benign
15	32908603	C	CA	G32908624A	FMN1	NM_001277313.2(FMN1):c.3289-45dup	noncoding	Benign
15	32926271	GA	G	A32926285G	FMN1	NM_001277313.2(FMN1):c.3139-11del	noncoding	Benign
15	32926271	G	GA	G32926286A	FMN1	NM_001277313.2(FMN1):c.3139-24dup	noncoding	Benign
15	32926388	C	CTCT	T32926393C	FMN1	NM_001277313.2(FMN1):c.3139-130_3139-128dup	noncoding	Benign
15	32963923	T	TCACA	G32963948C	FMN1	NM_001277313.2(FMN1):c.3138+160TG[14]	noncoding	Benign
15	32963923	T	TCA	G32963948C	FMN1	NM_001277313.2(FMN1):c.3138+160TG[13]	noncoding	Benign
15	33065277	TACA	T	C33065285A	FMN1	NM_001277313.2(FMN1):c.2044-212TGT[2]	noncoding	Benign
15	33631301	A	AT	A33631312T	RYR3	NM_001036.6(RYR3):c.2867+18dup	noncoding	Benign
15	33821253	AT	A	T33821261C	RYR3	NM_001036.6(RYR3):c.10816-9del	noncoding	Benign
15	33844878	TAGA	T	A33844885G	RYR3	NM_001036.6(RYR3):c.13314AGA[2]:p.Glu4441del	coding	Benign
15	33857919	GAGCCCACCCACTGCGGGGCC	G	G33857941C	RYR3	NM_001036.6(RYR3):c.14142+27_14142+46del	noncoding	Benign
15	34236786	G	GTA	A34236789T	SLC12A6	NM_001365088.1(SLC12A6):c.2962_2963dup:p.Glu989fs	coding	Pathogenic
15	34237287	G	GT	G34237298T	SLC12A6	NM_001365088.1(SLC12A6):c.2934+122dup	noncoding	Benign
15	34237459	T	TA	T34237461A	SLC12A6	NM_001365088.1(SLC12A6):c.2893dup:p.Tyr965fs	coding	Pathogenic
15	34239087	T	TGA	C34239088G	SLC12A6	NM_001365088.1(SLC12A6):c.2509_2510insTC:p.Glu837fs	coding	Pathogenic
15	34239143	CA	C	A34239144T	SLC12A6	NM_001365088.1(SLC12A6):c.2453del:p.Met818fs	coding	Pathogenic
15	34239273	T	TA	T34239275A	SLC12A6	NM_001365088.1(SLC12A6):c.2437-114dup	noncoding	Benign
15	34244013	C	CTCCA	G34244014T	SLC12A6	NM_001365088.1(SLC12A6):c.2002_2003insTGGA:p.Arg668fs	coding	Pathogenic
15	34245783	AAAG	A	A34245787G	SLC12A6	NM_001365088.1(SLC12A6):c.1728CTT[1]:p.Phe578del	coding	Pathogenic
15	34250307	AG	A	G34250308A	SLC12A6	NM_001365088.1(SLC12A6):c.1639del:p.Leu547fs	coding	Pathogenic
15	34250325	CAT	C	A34250326G	SLC12A6	NM_001365088.1(SLC12A6):c.1620_1621del:p.Cys541fs	coding	Pathogenic
15	34250332	CA	C	A34250337G	SLC12A6	NM_001365088.1(SLC12A6):c.1614del:p.Phe538fs	coding	Pathogenic
15	34254598	T	TA	T34254604A	SLC12A6	NM_001365088.1(SLC12A6):c.877-10dup	noncoding	Benign
15	34254765	AT	A	T34254781G	SLC12A6	NM_001365088.1(SLC12A6):c.877-177del	noncoding	Benign
15	34255361	TG	T	G34255362C	SLC12A6	NM_001365088.1(SLC12A6):c.776del:p.Ala259fs	coding	Pathogenic/Likely_pathogenic
15	34255385	G	GC	A34255391C	SLC12A6	NM_001365088.1(SLC12A6):c.752dup:p.Ser252fs	coding	Pathogenic/Likely_pathogenic
15	34255556	G	GA	G34255560A	SLC12A6	NM_001365088.1(SLC12A6):c.746-167dup	noncoding	Benign
15	34260805	ATTTTC	A	C34260810A	SLC12A6	NM_001365088.1(SLC12A6):c.411+116_411+120del	noncoding	Benign
15	34260946	T	TA	T34260948A	SLC12A6	NM_001365088.1(SLC12A6):c.390dup:p.Lys131Ter	coding	Pathogenic
15	34261024	GAA	G	A34261033G	SLC12A6	NM_001365088.1(SLC12A6):c.317-6_317-5del	noncoding	Benign
15	34261024	GA	G	A34261034G	SLC12A6	NM_001365088.1(SLC12A6):c.317-5del	noncoding	Benign
15	34261024	G	GA	G34261035A	SLC12A6	NM_001365088.1(SLC12A6):c.317-14dup	noncoding	Benign
15	34275365	CCT	C	C34275366G	SLC12A6	NM_001365088.1(SLC12A6):c.294_295del:p.Glu100fs	coding	Pathogenic
15	34791307	TCACACACA	T	C34791346T	ACTC1	NM_005159.5(ACTC1):c.809-58TG[19]	noncoding	Benign/Likely_benign
15	34793579	G	GA	T34793586A	ACTC1	NM_005159.5(ACTC1):c.130-11dup	noncoding	Benign
15	34794656	CG	C	G34794662C	ACTC1	NM_005159.5(ACTC1):c.129+23del	noncoding	Benign
15	34795351	TA	T	A34795368G	ACTC1	NM_005159.5(ACTC1):c.-23+154del	noncoding	Benign
15	34795351	T	TAA	G34795369A	ACTC1	NM_005159.5(ACTC1):c.-23+138_-23+139dup	noncoding	Benign
15	34795351	T	TA	G34795369A	ACTC1	NM_005159.5(ACTC1):c.-23+138dup	noncoding	Benign
15	36645494	TTG	T	T36645531C	CDIN1	NM_001321759.2(CDIN1):c.212+208TG[18]	noncoding	Benign
15	36645494	T	TTG	C36645533T	CDIN1	NM_001321759.2(CDIN1):c.212+208TG[20]	noncoding	Benign
15	36697128	TA	T	A36697139G	CDIN1	NM_001321759.2(CDIN1):c.477-184del	noncoding	Benign
15	36746671	A	ACG	A36746673G	CDIN1	NM_001321759.2(CDIN1):c.716+36711_716+36712insGC	noncoding	Benign
15	37098107	C	CG	A37098114G	MEIS2	NM_170675.5(MEIS2):c.104dup:p.Val36fs	coding	Pathogenic
15	38299378	GT	G	T38299380A	SPRED1	NM_152594.3(SPRED1):c.40del:p.Tyr14fs	coding	Pathogenic
15	38322337	AC	A	C38322338G	SPRED1	NM_152594.3(SPRED1):c.305del:p.Thr102fs	coding	Pathogenic
15	38339787	GC	G	C38339788A	SPRED1	NM_152594.3(SPRED1):c.475del:p.Gln159fs	coding	Pathogenic
15	38349572	G	GTT	A38349573T	SPRED1	NM_152594.3(SPRED1):c.684+49_684+50insTT	noncoding	Benign
15	38349573	A	AAAT	T38349574A	SPRED1	NM_152594.3(SPRED1):c.684+50_684+51insAAT	noncoding	Benign
15	38349576	G	GTA	G38349577T	SPRED1	NM_152594.3(SPRED1):c.684+53_684+54insTA	noncoding	Benign
15	38351018	CT	C	T38351021G	SPRED1	NM_152594.3(SPRED1):c.692del:p.Pro230_Leu231insTer	coding	Pathogenic
15	38351119	C	AA	C38351119A	SPRED1	NM_152594.3(SPRED1):c.790delinsAA:p.Pro264fs	coding	Pathogenic
15	38351122	G	GA	C38351124A	SPRED1	NM_152594.3(SPRED1):c.794dup:p.Asp265fs	coding	Pathogenic
15	38351364	AGAAAATGTTAGGG	A	T38351373C	SPRED1	NM_152594.3(SPRED1):c.1044_1056del:p.Gly350fs	coding	Pathogenic/Likely_pathogenic
15	38351372	TTA	T	T38351373G	SPRED1	NM_152594.3(SPRED1):c.1044_1045del:p.Arg349fs	coding	Pathogenic
15	38351454	GTTGTATCA	G	C38351461G	SPRED1	NM_152594.3(SPRED1):c.1132_1139del:p.His378fs	coding	Pathogenic
15	38351556	TTTGTCTTTCA	T	C38351561A	SPRED1	NM_152594.3(SPRED1):c.1232_1241del:p.Ser411fs	coding	Pathogenic
15	38351565	CAT	C	A38351566T	SPRED1	NM_152594.3(SPRED1):c.1237_1238del:p.Ile413fs	coding	Pathogenic
15	38351600	GA	G	A38351602T	SPRED1	NM_152594.3(SPRED1):c.1273del:p.Met425fs	coding	Pathogenic
15	38512904	GT	G	T38512905G	RASGRP1	NM_005739.4(RASGRP1):c.727del:p.Thr243fs	coding	Pathogenic
15	39943351	CT	C	T39943371G	EIF2AK4	NM_001013703.4(EIF2AK4):c.258-12del	noncoding	Benign
15	39943351	CTT	C	T39943370G	EIF2AK4	NM_001013703.4(EIF2AK4):c.258-13_258-12del	noncoding	Benign
15	39943351	CTTT	C	T39943369G	EIF2AK4	NM_001013703.4(EIF2AK4):c.258-14_258-12del	noncoding	Benign
15	39955896	ATCTT	A	T39955897A	EIF2AK4	NM_001013703.4(EIF2AK4):c.743+129_743+132del	noncoding	Benign
15	39956004	CT	C	T39956023G	EIF2AK4	NM_001013703.4(EIF2AK4):c.743+255del	noncoding	Benign
15	39956004	CTT	C	T39956022G	EIF2AK4	NM_001013703.4(EIF2AK4):c.743+254_743+255del	noncoding	Benign
15	39967318	C	CT	A39967334T	EIF2AK4	NM_001013703.4(EIF2AK4):c.1018-11dup	noncoding	Benign
15	39967318	C	CTT	A39967334T	EIF2AK4	NM_001013703.4(EIF2AK4):c.1018-12_1018-11dup	noncoding	Benign
15	39967567	AT	A	T39967569A	EIF2AK4	NM_001013703.4(EIF2AK4):c.1243del:p.Tyr415fs	coding	Pathogenic
15	39977131	T	TCAAAAA	T39977132C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2249+287_2249+288insCAAAAA	noncoding	Benign
15	39977132	T	TAAAAAC	C39977155A	EIF2AK4	NM_001013703.4(EIF2AK4):c.2249+289AAAAAC[4]	noncoding	Benign
15	40011092	ATAAGT	A	G40011096T	EIF2AK4	NM_001013703.4(EIF2AK4):c.3694-185_3694-181del	noncoding	Benign
15	40017502	TA	T	A40017503T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4065+261del	noncoding	Benign
15	40017504	TATATATATATATATATA	T	A40017505T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4065+263_4065+279del	noncoding	Benign
15	40017504	TATATATATATATATATATA	T	A40017505T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4065+263_4065+281del	noncoding	Benign
15	40017504	TATATATATATATATATATATATA	T	A40017505T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4065+263_4065+285del	noncoding	Benign
15	40017504	TATATATATATATATATATATATATATATA	T	A40017505T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4065+263_4065+291del	noncoding	Benign
15	40020721	CT	C	T40020737A	EIF2AK4	NM_001013703.4(EIF2AK4):c.4174-162del	noncoding	Benign
15	40022218	GT	G	T40022220G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4303-299del	noncoding	Benign
15	40022468	CT	C	T40022469G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4303-50del	noncoding	Benign
15	40025977	G	GT	A40025980T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4392dup:p.Lys1465Ter	coding	Pathogenic
15	40176513	T	TA	C40176515A	BUB1B	NM_001211.6(BUB1B):c.422dup:p.Tyr141Ter	coding	Pathogenic
15	40183825	G	GTT	A40183826T	BUB1B	NM_001211.6(BUB1B):c.693_694insTT:p.Ser232fs	coding	Pathogenic
15	40185628	AC	A	C40185629G	BUB1B	NM_001211.6(BUB1B):c.1045del:p.Arg349fs	coding	Pathogenic
15	40200306	A	AATACC	G40200313T	BUB1B	NM_001211.6(BUB1B):c.1466_1470dup:p.Gly491fs	coding	Pathogenic
15	40202473	G	GT	G40202481T	BUB1B	NM_001211.6(BUB1B):c.1628+15dup	noncoding	Benign
15	40202481	G	GT	G40202489T	BUB1B	NM_001211.6(BUB1B):c.1628+23dup	noncoding	Benign
15	40202628	AC	A	C40202632T	BUB1B	NM_001211.6(BUB1B):c.1672del:p.Ala559fs	coding	Pathogenic
15	40206354	TG	T	G40206355A	BUB1B	NM_001211.6(BUB1B):c.1906del:p.Glu636fs	coding	Pathogenic
15	40208538	C	CA	G40208547A	BUB1B	NM_001211.6(BUB1B):c.2010-91dup	noncoding	Benign
15	40209699	GT	G	T40209701A	BUB1B	NM_001211.6(BUB1B):c.2210del:p.Glu736_Leu737insTer	coding	Pathogenic
15	40210151	G	GA	G40210154A	BUB1B	NM_001211.6(BUB1B):c.2328dup:p.Asp777fs	coding	Pathogenic
15	40210185	ACT	A	C40210188G	BUB1B	NM_001211.6(BUB1B):c.2363_2364del:p.Ser788fs	coding	Pathogenic/Likely_pathogenic
15	40213077	AT	A	T40213078C	BUB1B	NM_001211.6(BUB1B):c.2536-254del	noncoding	Benign
15	40213431	G	GT	C40213433T	BUB1B	NM_001211.6(BUB1B):c.2636dup:p.His880fs	coding	Pathogenic
15	40217417	C	CT	A40217428T	BUB1B	NM_001211.6(BUB1B):c.2679-69dup	noncoding	Benign
15	40220547	G	GT	A40220552T	BUB1B	NM_001211.6(BUB1B):c.2958-13dup	noncoding	Benign
15	40389872	CT	C	T40389873G	KNSTRN	NM_033286.4(KNSTRN):c.629del:p.Leu210fs	coding	Pathogenic
15	40405952	T	TA	G40405955A	IVD	NM_002225.5(IVD):c.127dup:p.Ser43fs	coding	Pathogenic
15	40405996	GCCCCAAGGCCTCCTTCCTGCCTGGT	G	A40406027T	IVD	NM_002225.5(IVD):c.144+56_144+80del	noncoding	Benign
15	40407640	GT	G	T40407641C	IVD	NM_002225.5(IVD):c.150del:p.Gln51fs	coding	Pathogenic
15	40407715	AG	A	G40407716A	IVD	NM_002225.5(IVD):c.225del:p.Asn76fs	coding	Pathogenic
15	40407805	G	GTT	C40407810T	IVD	NM_002225.5(IVD):c.234+83_234+84dup	noncoding	Benign
15	40412973	CT	C	T40412977G	IVD	NM_002225.5(IVD):c.688-14del	noncoding	Benign
15	40414939	GGGCT	G	C40414942A	IVD	NM_002225.5(IVD):c.838_841del:p.Leu280fs	coding	Pathogenic
15	40471365	TGGCCTCCAGCG	T	C40471369T	CHST14	NM_130468.4(CHST14):c.156_166del:p.Ser53fs	coding	Pathogenic/Likely_pathogenic
15	40471383	TG	T	G40471384C	CHST14	NM_130468.4(CHST14):c.171del:p.Leu58fs	coding	Pathogenic
15	40562852	T	TCC	T40562856C	CCDC32	NM_001080792.4(CCDC32):c.162_163dup:p.Glu55fs	coding	Pathogenic
15	40562988	T	TA	G40562990A	CCDC32	NM_001080792.4(CCDC32):c.27dup:p.Thr10fs	coding	Pathogenic
15	40608745	CA	C	A40608761G	KNL1	NM_144508.5(KNL1):c.136-86del	noncoding	Benign
15	40621338	AG	A	G40621340A	KNL1	NM_144508.5(KNL1):c.1076del:p.Gly359fs	coding	Pathogenic
15	40645796	TAGAA	T	A40645800G	KNL1	NM_144508.5(KNL1):c.6006+28_6006+31del	noncoding	Benign
15	40646856	CA	C	A40646878G	KNL1	NM_144508.5(KNL1):c.6007-109del	noncoding	Benign
15	40646856	C	CA	G40646879A	KNL1	NM_144508.5(KNL1):c.6007-109dup	noncoding	Benign
15	40650125	GA	G	A40650140T	KNL1	NM_144508.5(KNL1):c.6095-161del	noncoding	Benign
15	40650517	G	GT	C40650532T	KNL1	NM_144508.5(KNL1):c.6173-13dup	noncoding	Benign
15	40650517	GT	G	T40650531C	KNL1	NM_144508.5(KNL1):c.6173-13del	noncoding	Benign
15	40651290	TTA	T	T40651295A	KNL1	NM_144508.5(KNL1):c.6213-180TA[2]	noncoding	Benign
15	40651293	TATAA	T	T40651295A	KNL1	NM_144508.5(KNL1):c.6213-176_6213-173del	noncoding	Benign
15	40651293	TATA	T	T40651295A	KNL1	NM_144508.5(KNL1):c.6213-176_6213-174del	noncoding	Benign
15	40706104	TA	T	A40706105T	RAD51	NM_002875.5(RAD51):c.226-72del	noncoding	Benign
15	40728455	GA	G	A40728467G	RAD51	NM_002875.5(RAD51):c.531-244del	noncoding	Benign
15	41402006	AT	A	T41402017C	NDUFAF1	NM_016013.4(NDUFAF1):c.-82+137del	noncoding	Benign
15	41815353	CAG	C	A41815358C	MAPKBP1	NM_014994.3(MAPKBP1):c.1270_1271del:p.Ser424fs	coding	Pathogenic
15	41819555	G	GC	G41819556C	MAPKBP1	NM_014994.3(MAPKBP1):c.2426-40_2426-39insC	noncoding	Benign
15	42359864	CA	C	A42359865G	CAPN3	NM_000070.3(CAPN3):c.60del:p.Pro22fs	coding	Pathogenic
15	42359997	TC	T	C42359998A	CAPN3	NM_000070.3(CAPN3):c.193del:p.His65fs	coding	Pathogenic
15	42360017	AGA	GG	A42360017G	CAPN3	NM_000070.3(CAPN3):c.212_214delinsGG:p.Lys71fs	coding	Pathogenic
15	42360022	GT	G	T42360024C	CAPN3	NM_000070.3(CAPN3):c.219del:p.Leu74fs	coding	Pathogenic
15	42360059	CCT	C	C42360066T	CAPN3	NM_000070.3(CAPN3):c.261_262del:p.Phe88fs	coding	Pathogenic
15	42360066	CTT	C	T42360069A	CAPN3	NM_000070.3(CAPN3):c.264_265del:p.Phe88fs	coding	Pathogenic
15	42360367	G	GA	T42360383A	CAPN3	NM_000070.3(CAPN3):c.309+268dup	noncoding	Benign
15	42386165	AG	A	G42386169A	CAPN3	NC_000015.9:g.42678364del	noncoding	Pathogenic
15	42386197	G	GC	T42386200C	CAPN3	NM_000070.3(CAPN3):c.412dup:p.Leu138fs	coding	Pathogenic
15	42386219	TC	T	C42386220T	CAPN3	NM_000070.3(CAPN3):c.433del:p.Leu145fs	coding	Pathogenic
15	42387868	TG	T	G42387870A	CAPN3	NM_000070.3(CAPN3):c.616del:p.Glu206fs	coding	Pathogenic
15	42388998	G	GA	T42388999A	CAPN3	NM_000070.3(CAPN3):c.703_704insA:p.Val235fs	coding	Pathogenic
15	42392703	CTG	C	G42392705C	CAPN3	NM_000070.3(CAPN3):c.1012_1013del:p.Val338fs	coding	Pathogenic
15	42394091	CT	C	T42394092G	CAPN3	NM_000070.3(CAPN3):c.1030-164del	noncoding	Benign
15	42401473	GCC	G	C42401486A	CAPN3	NM_000070.3(CAPN3):c.1355-155_1355-154del	noncoding	Benign
15	42401473	GC	G	C42401487A	CAPN3	NM_000070.3(CAPN3):c.1355-154del	noncoding	Benign
15	42401485	C	CCT	C42401487T	CAPN3	NM_000070.3(CAPN3):c.1355-155_1355-154insTC	noncoding	Benign
15	42401485	C	CT	C42401486T	CAPN3	NM_000070.3(CAPN3):c.1355-156_1355-155insT	noncoding	Benign
15	42401754	C	CT	G42401755T	CAPN3	NM_000070.3(CAPN3):c.1468_1469insT:p.Arg490fs	coding	Pathogenic
15	42401755	G	TC	G42401755T	CAPN3	NM_000070.3(CAPN3):c.1469delinsTC:p.Arg490fs	coding	Pathogenic
15	42401789	CAT	C	A42401790T	CAPN3	NM_000070.3(CAPN3):c.1504_1505del:p.Ile502fs	coding	Pathogenic
15	42401799	G	GCCAT	T42401805C	CAPN3	NM_000070.3(CAPN3):c.1515_1518dup:p.Tyr507fs	coding	Pathogenic
15	42402845	T	TC	A42402848C	CAPN3	NM_000070.3(CAPN3):c.1590dup:p.Lys531fs	coding	Pathogenic
15	42402994	CCTCT	C	C42402997G	CAPN3	NM_000070.3(CAPN3):c.1740_1743del:p.Ser581fs	coding	Pathogenic
15	42405927	AAAAG	A	G42405931A	CAPN3	NM_000070.3(CAPN3):c.1788_1791del:p.Lys598fs	coding	Pathogenic
15	42408240	CA	C	A42408241G	CAPN3	NM_000070.3(CAPN3):c.1831del:p.Ser611fs	coding	Pathogenic
15	42408303	T	TAAGCAAAAGCAGTCCCCAC	G42408324A	CAPN3	NM_000070.3(CAPN3):c.1895_1913dup:p.Pro639fs	coding	Pathogenic
15	42409365	GC	CT	G42409365C	CAPN3	NM_000070.3(CAPN3):c.1977_1978delinsCT:p.Lys659_Gln660delinsAsnTer	coding	Pathogenic
15	42409372	GC	G	C42409373A	CAPN3	NM_000070.3(CAPN3):c.1985del:p.Ala662fs	coding	Pathogenic
15	42409812	T	TC	A42409814C	CAPN3	NM_000070.3(CAPN3):c.2019dup:p.Lys674fs	coding	Pathogenic
15	42409837	GAACA	G	A42409841G	CAPN3	NM_000070.3(CAPN3):c.2048_2051del:p.Lys683fs	coding	Pathogenic
15	42409844	C	CG	T42409846G	CAPN3	NM_000070.3(CAPN3):c.2050+1dup	coding	Pathogenic
15	42409922	TC	T	C42409928A	CAPN3	NM_000070.3(CAPN3):c.2051-3del	noncoding	Benign
15	42410602	CTA	C	A42410604G	CAPN3	NM_000070.3(CAPN3):c.2201_2202del:p.His733_Tyr734insTer	coding	Pathogenic
15	42410603	TA	T	A42410604T	CAPN3	NM_000070.3(CAPN3):c.2201del:p.Tyr734fs	coding	Pathogenic
15	42410611	A	AGTGGTCTGGTG	A42410613T	CAPN3	NM_000070.3(CAPN3):c.2209_2210insTGGTCTGGTGG:p.Asp737fs	coding	Pathogenic
15	42410919	AC	A	C42410921A	CAPN3	NM_000070.3(CAPN3):c.2301del:p.Met768fs	coding	Pathogenic
15	42410954	C	CT	G42410958T	CAPN3	NM_000070.3(CAPN3):c.2337dup:p.Asp780Ter	coding	Pathogenic/Likely_pathogenic
15	42724685	T	TAAAG	C42724691A	CDAN1	NM_138477.4(CDAN1):c.3559-73_3559-70dup	noncoding	Benign
15	42728218	CCT	C	C42728221G	CDAN1	NM_138477.4(CDAN1):c.2852_2853del:p.Glu951fs	coding	Pathogenic
15	42728945	CCTT	C	T42728948C	CDAN1	NM_138477.4(CDAN1):c.2645+75_2645+77del	noncoding	Benign
15	42732815	C	CA	C42732823A	CDAN1	NM_138477.4(CDAN1):c.1457+275dup	noncoding	Benign
15	42733011	A	AG	C42733012G	CDAN1	NM_138477.4(CDAN1):c.1457+85_1457+86insC	noncoding	Benign
15	42733278	C	CT	G42733291T	CDAN1	NM_138477.4(CDAN1):c.1368-104dup	noncoding	Benign
15	42733695	TCTTG	T	C42733700A	CDAN1	NM_138477.4(CDAN1):c.1367+239_1367+242del	noncoding	Benign
15	42734091	G	GA	C42734096A	CDAN1	NM_138477.4(CDAN1):c.1258-48dup	noncoding	Benign
15	42734430	C	CT	A42734432T	CDAN1	NM_138477.4(CDAN1):c.1137-85dup	noncoding	Benign
15	42735105	G	GT	G42735107T	CDAN1	NM_138477.4(CDAN1):c.1130dup:p.His377fs	coding	Pathogenic
15	42735261	CTA	C	T42735262G	CDAN1	NM_138477.4(CDAN1):c.1055_1056del:p.Leu352fs	coding	Pathogenic
15	42752262	AG	A	G42752264T	TTBK2	NM_173500.4(TTBK2):c.2983del:p.Leu995fs	coding	Pathogenic
15	42777207	T	TG	C42777209G	TTBK2	NM_173500.4(TTBK2):c.1232dup:p.Asn412fs	coding	Pathogenic
15	42783744	T	TA	G42783760A	TTBK2	NM_173500.4(TTBK2):c.981-124dup	noncoding	Benign
15	42816942	AT	A	T42816943A	TTBK2	NM_173500.4(TTBK2):c.603+89del	noncoding	Benign
15	42816944	AT	A	T42816945A	TTBK2	NM_173500.4(TTBK2):c.603+87del	noncoding	Benign
15	42817281	TA	T	A42817292C	TTBK2	NM_173500.4(TTBK2):c.538-185del	noncoding	Benign
15	42878492	T	TACAC	T42878529A	TTBK2	NM_173500.4(TTBK2):c.69+21GT[20]	noncoding	Benign
15	42878492	T	TAC	T42878529A	TTBK2	NM_173500.4(TTBK2):c.69+21GT[19]	noncoding	Benign
15	42945615	TTCACCATTGA	T	C42945620T	UBR1	NM_174916.3(UBR1):c.5109-155_5109-146del	noncoding	Benign
15	42950361	A	AT	C42950364T	UBR1	NM_174916.3(UBR1):c.5007dup:p.Ile1670fs	coding	Pathogenic
15	42976589	G	GATAA	T42976594A	UBR1	NM_174916.3(UBR1):c.4369+124_4369+127dup	noncoding	Benign
15	42977682	CT	C	T42977699A	UBR1	NM_174916.3(UBR1):c.4218+197del	noncoding	Benign
15	42984952	T	TA	T42984962A	UBR1	NM_174916.3(UBR1):c.3998-11dup	noncoding	Benign
15	43025433	TA	T	A43025440T	UBR1	NM_174916.3(UBR1):c.2536-5del	noncoding	Benign
15	43059588	CA	C	A43059604G	UBR1	NM_174916.3(UBR1):c.985+113del	noncoding	Benign
15	43059601	AAAAG	A	G43059605A	UBR1	NM_174916.3(UBR1):c.985+97_985+100del	noncoding	Benign
15	43059602	AAAG	A	G43059605A	UBR1	NM_174916.3(UBR1):c.985+97_985+99del	noncoding	Benign
15	43068089	T	TA	G43068108A	UBR1	NM_174916.3(UBR1):c.660-71dup	noncoding	Benign
15	43086437	G	GA	G43086457A	UBR1	NM_174916.3(UBR1):c.82-216dup	noncoding	Benign
15	43105909	GA	G	A43105910G	UBR1	NM_174916.3(UBR1):c.81+32del	noncoding	Benign
15	43197599	TG	T	G43197601A	EPB42	NM_001114134.2(EPB42):c.1914-136del	noncoding	Benign
15	43202091	ACT	A	T43202093A	EPB42	NM_001114134.2(EPB42):c.1780-116_1780-115del	noncoding	Benign
15	43215607	G	GGCC	C43215608G	EPB42	NM_001114134.2(EPB42):c.197-280_197-279insGGC	noncoding	Benign
15	43215609	AT	A	T43215610A	EPB42	NM_001114134.2(EPB42):c.197-282del	noncoding	Benign
15	43220649	A	AC	A43220660C	EPB42	NM_001114134.2(EPB42):c.10+157dup	noncoding	Benign
15	43220649	AC	A	C43220659A	EPB42	NM_001114134.2(EPB42):c.10+166del	noncoding	Benign
15	43238857	GT	G	T43238858C	TGM5	NM_201631.4(TGM5):c.1304del:p.Asp435fs	coding	Pathogenic
15	43370975	A	ACCCCGGCCCCGG	T43371007C	TUBGCP4	NM_001372080.1(ZSCAN29):c.-560CCGGGG[7]	noncoding	Benign
15	43370975	A	ACCCCGG	T43371007C	TUBGCP4	NM_001372080.1(ZSCAN29):c.-560CCGGGG[6]	noncoding	Benign
15	43370975	ACCCCGG	A	C43371001T	TUBGCP4	NM_001372080.1(ZSCAN29):c.-560CCGGGG[4]	noncoding	Benign
15	43383359	A	AT	G43383361T	TUBGCP4	NM_014444.5(TUBGCP4):c.579dup:p.Gly194fs	coding	Pathogenic/Likely_pathogenic
15	43383459	CAT	C	A43383460T	TUBGCP4	NM_014444.5(TUBGCP4):c.679_680del:p.Ile227fs	coding	Pathogenic
15	43385591	C	CT	A43385594T	TUBGCP4	NM_014444.5(TUBGCP4):c.724-198dup	noncoding	Benign
15	43385777	CT	C	T43385780C	TUBGCP4	NM_014444.5(TUBGCP4):c.724-11del	noncoding	Benign
15	43385780	TC	A	T43385780A	TUBGCP4	NM_014444.5(TUBGCP4):c.724-11_724-10delinsA	noncoding	Benign
15	43386344	C	CAT	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+14_1014+15insAT	noncoding	Benign
15	43386344	CGTATATATATATATAT	C	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+15_1014+30del	noncoding	Benign
15	43386344	CGTATATATAT	C	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+15_1014+24del	noncoding	Benign
15	43386344	CGTATATAT	C	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+15_1014+22del	noncoding	Benign
15	43386344	CGTATAT	C	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+15_1014+20del	noncoding	Benign
15	43386344	CGTAT	C	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+15_1014+18del	noncoding	Benign
15	43386344	CGT	C	G43386345A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+15_1014+16del	noncoding	Benign
15	43386345	G	GTA	T43386379A	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+16TA[17]	noncoding	Benign
15	43386345	GTATA	G	A43386375T	TUBGCP4	NM_014444.5(TUBGCP4):c.1014+16TA[14]	noncoding	Benign
15	43398126	C	CTACAAAGTATATACAAAGTATA	C43398136T	TUBGCP4	NM_014444.5(TUBGCP4):c.1374_1375insTATACAAAGTATATACAAAGTA:p.Gln459fs	coding	Pathogenic
15	43398382	TAA	T	A43398398T	TUBGCP4	NM_014444.5(TUBGCP4):c.1418+219_1418+220del	noncoding	Benign
15	43398382	TA	T	A43398399T	TUBGCP4	NM_014444.5(TUBGCP4):c.1418+220del	noncoding	Benign
15	43401451	C	CA	G43401465A	TUBGCP4	NM_014444.5(TUBGCP4):c.1597-252dup	noncoding	Benign
15	43401726	T	TG	A43401729G	TUBGCP4	NM_014444.5(TUBGCP4):c.1609dup:p.Glu537fs	coding	Pathogenic
15	43403734	C	CT	G43403736T	TUBGCP4	NM_014444.5(TUBGCP4):c.1784dup:p.Val596fs	coding	Pathogenic
15	43403970	A	AT	A43403972T	TUBGCP4	NM_014444.5(TUBGCP4):c.1848+172dup	noncoding	Benign
15	43526952	CCA	C	C43526957T	MAP1A	NM_002373.6(MAP1A):c.5484_5485del:p.Met1829fs	coding	Pathogenic
15	43601394	ACCTGAGTGGTGCTCCAGCCATCTATCTGCCCCAGGGTGCTCAGCACTCCCCAGTCCACTAGGATCAGCTCCTGTAGTTCCCGATCTCCTAGACCTATTAAGAGCCTACCAAGCTGCAGGATCTGCTCAGGACGAAATCCCCGGGGGGGACCCCACAACTAGGAGAAAGACAGGAACAATGTGAGTGGAAAAGCAGTGGATTGGGAGTCATACTGCTGGGTTTTAAGTCTTGCCTCTGCCCTTAGCTGTATAACTCTAGGTAAATCATTTGCCTTTTCTTTAGTTTCCTCCACTATAAAATGAGACCGTTGCCTTACAGTTCCTCTAAGGTGTTTTGAAAGACATTACAATCAGTGGAAAAGAAGAGCAAACTAACTCTAGTCCATGAGTTCCACACTTTTATGTGCATCAGACACAGAGACGCTTATTAAAACAGATGCCTAGGGCCCAGCACAGTGGCTAACAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACCATCCTGGGCAACATAGTGAAACCCCATCTCTACCAAAGATACAAAAATTAGCCAGGTGTGGTGCACCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGATGTAGAGGTTACAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGATGCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGATGCAGATGTCTAGACTCTTTCCCCCAGAGGCTTATTTTTTAATTTATGAGACAGGGTCTTGCTCTGACACCCAGGCTGGAGGGCAGTGGTGCGATCTTGGCACATTGCACCCTCCACCTCCTGCACTCATGGGATTCTCCTACCCCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCGCCACACCCAGCTAATGTTTTTTCTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGTCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACCTGCCTCCGCCTCCCAAAGTGCTGTGATTACAGGCATGAGTCACTGCGCCCAGCCTCCCCAAAGGTTTTTATTAAGTCAGTGAAGCATGGTAATCTGGCACTGGCACTGTTCCCATGCTCAGTTCAGCAGCACATACCCCAAAAAATTGGAATGATACAGAGATTTGCATGGCGCCTGTGCAAGGATAACACGCAAATTCATGAAGCATGCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGATGGAGTGCATTGGCTTGACTTCGGCTCACTGCAAGCTCCCCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACAACAAGTGTGCACCACCATGCCCGGCTAACTTTTTTGTATTTTTAGTAGAGACCGTGTTTCGCCGTGTTAGACAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTTCTGAGATTATAGGCGTGAGCCGCTGCACCCAGCCGAAGCATGCCATTATTTTTTTAAGAAAGAAAAAAAAATAAAGAAAAAAATCTGTTCCCTTGATGATCGTGATATGCATTAAAATTTGGTAACCACTGCTTTCGTCCCTCTATTCATTATACTAGCTCTCTTTCCTCAATATTTATCTCCCTTCACCTCCTACTTGTGACCCAAATCTTCTAACTCTTCTATCTCTTGCTTCCCCCACCTCTCATCCAACTCTCCATTCTCTTTGTGTCCTACATCACACCCAAATAGCTTCCTCATGGCCAACCCCAGTTGGCTCTCCATCCCTAACCTGTTTTGCTTTGCCCATGGCTGCCCGCAGTTCCTCAGGCCCAAGTCCTGGGTCTCCTGCAAATAATGTCAGGCAGTCCTCAAAGTCTGAGAGCTCCATCTCTGCAATCTGGGTTGCAGACCAGGCTGCTGGGAATGTCCCTCGTACATCTGCACAATTTGGCACAGGTTCTGAAGGGGGAAGGCAGGGCCAGGAGGTCAGCGCAGTAATAAAATATGCCCAGAGAGATATCTGTAGATAGAGTGAGTCTTCCAACCTTTGGAGGATAGAGCACTGTGAGAAATAGGGATCAAAGGAGTATTACAGAGTAATATGTATAGGGCTTAGGAGATAATAGAACAAGAAGTGATTGGAGATGCCAAGACTTTTATAGATGGAAGACTGAGGATGTTATTCAGAGATTTAATGGTAGCACTGAATTTGAACCCAGTTCTCCAGCCTCACAATGTCTCCTTCAAAGCTTCTAGGGATCTCCCCAGCAGAGAGCTCCACACTTAGCCGAGCTAGAGCTGAGTCTAGAGCAGACACGAGAGAGCAGGAAAATGGAAGTTCTGGGCTAAAAGAAAACTTAATAGTTTACAAACTCCCAGAACTACAGAATTCTAGAACTACAAGAGGCTTGAAGATCATCCCTCTAAACTCTTTGCTTTATAAATTAGAAAACCCAGTCCCAGGGAAGAGCACATGTAGAACCCAGACCGTTTGATACTCCCTGTACATCCTGCTGGACATATAAGTATTTGGGTAGTTTCACCTGGAAGATCCTCAGCAGCTGGTCGCACCACCCCTGCTACCAGGGCTGCTTTCTTGGCAGCAAGCTGTGGCTCCCTACACAGCTGTCCAACTCTGCTCTGCTCCCAGCTCTGCTGCTTTTCTAGAAGCCGCTCCAGGGTCTCTGGACCCAAGGCCTCCTGCATGAGAAGGTAGAAGGAGAGTGGGGAGATCTGGACAGATCAGGACCTGCTGCTATAGCTCTAAGTCCAAAGTCCTGTCTCTGTTTTGCAGTCTCCCCCCAGATCTAGGCTTCATATCCTTTGCCCTCTTTGGCCACGGGTCCCCATAACCAGCTCACCAGTCCCCTCTATGCATTTACTCCCTTCCCTTCTTCCTTCATCTCACCCTGGGGATCAAGGAAATTGCCTCAGTAGACAGAGTGAATACTAGGCGTCCAGCTTGCTCTACTTCATCCTGGCTCCACAACTCTGGTTTCCTGGGGACAGGAAGAAAATCGGGGGCTGGGGAGCTGAGGGAACTGTGAGGAAAAGGAAGGGGAAAAGAGGACATGCTAGGATTTCGGACACAGGGCTCCAGGGGACCTTAAGAATATGGAACAGGCTGCCACTGATGATGGTGGCTGAGGGACTGGGTATAGAATGAGTTAGAATCTGAAGTTCTCGAAGGTCCATACCCAAGAACAGACTCCTGCAATAGCAGCCATCCCAGCTCTGTGGCAAATGTCTCTCCTAGGCAGAAGCCTTGCAGCTGACTGAGATGGGACAGCAGGATCTGTAGGGGGATCTGTCGTGTGCTCTCTGTCCCCAGGAATCCAACCAAAGGGCCTAAGGTCTCCAGCACTTCCCCTGAGACTGGAGTCTCCTTTGGAGCCTGGAGAAGAGCATCAGAACTTGGACAATGCACTTCTGACTCAGAATACCAGACACCTTGATCAAGACACCAAGCCCCCTAACCTTCCCTCCCTCCTGCTCCCAGCTCAGCACCCTATGATGCTCACTACCTTTGTTCACTTCCTTAAGCAATGAGCCCAGATAGGAGCAGGCAGAAAGACTGAGAGGTGGACTCCAAGAGATTTCTCGGACTCCAAGAGGTATGGACAAGTAACGTGAAGCATATTATCAAGGAACAGAACCCAGAGGCAAAACAGGGGCCAGGCCTTGTAGACAGGAATCTGTTTGGCAGCAAGAAAGCAAGAAGTAGAGGGTTGGGGGACAGTCAGAGAGCATTGTCTGAGGAGCAAGAATTGCCCAGGGCAGCAAATCTGAGTCTGGTAGGGTGGACTCTTACCAGGTTTTGTAGTGCCCTCTCTGCCAGGGCTGCCTGGTGGAGGGGGGTCAGTGCCAGCAGCTGCTCTGGAGCTCTTTGCACCAGCTCCACCACCAACATAATGGATTCATTGGATAGTCTGTCCATCAACTGGATCCTATTACAGCAATTTGACAACAACAGGATTCAGGTGGAGCTGGGCCAAGTCGAGAAGGGACCACAAAACCCCACAGTCCGCAGCTAAGATGTGACCCCAGACCAAATTTAGTGAAGCTGGACAGGAACTGATAGTAAACAGCTCCAGGGCCAATTCCCACCATCAAGCTTGAGTGGGGGAGAAAAAGGGAGCAACATATTTCTAGTCTTCCTAAAAAAAAAAAATAACGAACAATCCTACCTGATCTAATGGACTCAAAAGCTCCAAATATTAAGTACCATTAACATTTCCCCATTTTATAGATTAAAAAACTGAGGTTCACAGAGATCAAATGTTGAGGTCTCTCACTCCCAATTCCCGTTTTTTTCCACAGGACCACCCTTCCTCTGCTTGTGAAGAGGTCCCTTCTTGTTTGTACGTGCTATACAATTTACAAAGTTCTTTCAGGTGTTATCTCATTTGATCCTACAACAAGACCTGGCCTCACTCCATCACTCAGGCTGGAGCACAGTGGTGCTGCGATCTCAGTTCACTGCAACCCGCACCTCCCAGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCGAATAGCTGGAATTACACGCACGTGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGTGTTTTGCCATGTTGGCCAGTCTGGTCTTGAACACCTGACCTCCGTGATCCACCCACCTTGGCCTCCCCAAATGCTGGGATTATAGGCATGAGCCACTGCACCCAGACAAAATAGGTGTTTCTCTTATCCTTCTTTCACAAATGAGAAACTCAAGTTTTTTGATGCATGGTCTAGGATCTTTCACCTCATCTGTAACCTTGGGATTCTAAATTATCTCACAGAACCCACATATTTAAACAGATCTGAATGGCATTAAAAAAAAGTAAAAACAGGCCGGACGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAGGGTCAGAAATTCGAGACCACCCTGAGCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATTGCTTGAACCCCAGAGGGAGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAATATAAATAAATAAACAAATAAATAAATAAATCCCTTTTACCCGAAATCAGAGGTGATAACCTGTACCCTACCTAGGATTACCAGTTCTGGAACTGGGCTAAGTCATACAAGAGCTGAAATCTGTGGAAAGGCCTATAAAAATATAAGAATGTTGGGAAGCCGAGGTGGGCAGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAGCTCGTCCCTACAACAAATACAAAAATTAGCCTGGCATGGTGGTGCACACCTACAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGAAGATGGAGGTTGCAGTGAGCCGAGATCACGTCACTGCACTCCAGCCTTGGTGACACAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAGTAGGAATGAAGTCAACTGCTTTTACTCCACTTCAGCTCCATATTCCCCAGGAAGACTGTAACACCAGCATTTTCCTATCCTGACTTACAGTGCGGATGGCAACGGGGTGGTGGTAGGGGTAAAATGAGAAAAGCAGCATATGAGTAACATACTAATAAATTTCTCCATGGGTAGGGAGGAGCCTTGGGTTCCTATAGCCTTTTCTTCCCACAACCTGTATATGAACGTGCTCTACAACATTCCTGCCATGGGGCCATCTGGCTTAGGCTCGAACAGCTCCAAGGACCAGGAACTCACTACCTTAGTTTTTCTTATACTATGTAAAAATCTGATCTCCGTTAACTACTCTTAGTCTTGCCCAATGGGGCCACTCATAAATATGACAATCTAATTTCTACTTGATAGCCCCTCAGGTATTTGAAGGTATTTATCACATTTTTCATATATTTTTCTCTCGATCTACTCCTCTGAATGCACTAAGAACACAGTGCCCTGAGCAAACTACAATCCTCTGGGGCAGATTTGGAGCATTGCCTCCCTCACTTCAGATGCTCTGTCTCAATCTCAATTAATGTGGACTAGGTTATTGTAAGATTACTTGGCAGGCTTCAATACAGTGTTGCCACCCTCAGCTGCCCTGTGCTGGAGCATATTCTGGGAACCAGTCAATACATAGAGCAACTTTGAATAAAATCCTCTGCTTTGGGCTATAAATTATGTCAGGGAACTACCAGACAGAAAAACTACCTCCTCCAGGGCATTCCCTAAGGGCAGATCTTCACCCCAGATTGAGCTTTCTGAGGGGCCAATATCTCTAGCTGCAGTACTTACGGTAAGTCCAGGAGTAGCTTGCTATCCAGCCCGTTCAGTTCTGGCCCTACAGTTGTCCATTCTGGTTCTGGCATTGCCATCCTCCGCTGTAGCTCTGCCCAGATACAGGCCCTCTGTAGGGAAGCAGTGTGAGGCCAGAGCAGAACATAGGAGCTGGGTTCTATACCTAGGGTCCCAGCCTCCCTGCTCCCACTAAAGTCCAGGCACCCCCTCTCACCAGGCTCCCTCGAACTCTAGTGGGCAGCTGATAGATCATGTGCACCACTTCAAGGAAGTCTACCATGGAGTTGATCTGCTGCAGAAACTCACAGGACATGCCTCCTGCCAGGGTGCCCAGAGCCCTGTGGGTGTGTGAGTGGGGAGAGGCTCATTCAACACATACAACAGCCTGTTTGCTCCTTGATATCAGTACTCTCAACACAAGTACAGATGTTCATCCACCGTAATTTATGGTTTGAGAAATGTTTTTACATAGATATCTCATCAGCTCCCCATAACATCACTGCTGTTTATCAGAGGAGAAAATAAGGATTTATGGAAGTCAGGTGACATTCCCAACATCATTCTGCTAGAAATGTGGTAAACTGAAACTAGAGCCATGTCTTAGATTCTGAAGCCCTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAAATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGCACATTCCTGTAATCCCAGCTACTCCAGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCGAAAAAAAAAAAAAAAAAAAGATTCTGAAGCCCATTGTTCTTCTAATGTGGGTGTAAGTAAAGTGATACCTTCTTATTCCTATTTATTCTTGCTTGGCCAGTGCCTCTGAAGTCATCCTGAAGTAAACTAACAGTAGCAAATGACTACTGGGACTTTACAATGGACCAAACACTGTGTTAAATATCTTACATGACCTACCTCATTTAATCTTCACAGTAACTACCTATGAGGCTGGTGCCATTGTAATTCTCATTTAAAGAAGGGAAAACTGACACAGGGACGTTAAATGACTTGCCCAAGAGGACAAGTAGGTGACAGGACTGGAACCTGAATCCAGGTTTTCTGAGTCCTTTGGCTCTAGTCAGGATAGGCATGGCACTGTGGAAGGAAAGGAGGGCAAAGGGAGGTGCTAGGAGAACGTCCACGAGGCAGGGACTATGCATCATTCATCCCTATATCCCCCATTCCATATCACATGGTGCCTGGCACATAGTAAGCACTCAAAAAAATGTTGGTCGAATTCAGCGCACTGCTCAACACAAGTTACTCACTGCAGATTCCTGAGGGTAAGGTTGGTGGGTACTTGCATCTTCTTCCAGAGAAACTGTGC	A	C43601396T	STRC	NM_153700.2(STRC):c.3499_4701+1del	noncoding	Pathogenic
15	43605611	TA	T	A43605623T	STRC	NM_153700.2(STRC):c.3795-213del	noncoding	Benign
15	43614010	AG	A	G43614013C	STRC	NM_153700.2(STRC):c.2356del:p.Leu786fs	coding	Pathogenic
15	43617959	AG	A	G43617965C	STRC	NM_153700.2(STRC):c.461del:p.Pro154fs	coding	Pathogenic
15	43618668	ACAG	A	C43618699G	STRC	NM_153700.2(STRC):c.22CTG[10]:p.Leu18del	coding	Benign
15	43766133	G	GT	A43766135T	PDIA3	NM_005313.5(PDIA3):c.845+122dup	noncoding	Benign
15	43766134	TA	T	A43766153T	PDIA3	NM_005313.5(PDIA3):c.845+141del	noncoding	Benign
15	44563310	A	AGAAAC	A44563316G	SPG11	NM_025137.4(SPG11):c.7152-14_7152-10dup	noncoding	Benign/Likely_benign
15	44564604	T	TAAG	C44564605A	SPG11	NM_025137.4(SPG11):c.7093_7094insCTT:p.Glu2365delinsAlaTer	coding	Pathogenic
15	44564639	C	CTGGT	A44564644T	SPG11	NM_025137.4(SPG11):c.7055_7058dup:p.Gln2354fs	coding	Pathogenic
15	44564700	T	TTCC	A44564702C	SPG11	NM_025137.4(SPG11):c.7000-3_7000-2insAGG	noncoding	Pathogenic
15	44566247	CAG	C	A44566250T	SPG11	NM_025137.4(SPG11):c.6811_6812del:p.Leu2271fs	coding	Pathogenic
15	44567349	CA	C	A44567367G	SPG11	NM_025137.4(SPG11):c.6754+74del	noncoding	Benign
15	44567349	C	CA	G44567368A	SPG11	NM_025137.4(SPG11):c.6754+57dup	noncoding	Benign
15	44567542	A	AG	A44567545G	SPG11	NM_025137.4(SPG11):c.6635dup:p.Gly2213fs	coding	Pathogenic
15	44569442	TA	T	A44569443T	SPG11	NM_025137.4(SPG11):c.6540del:p.His2180fs	coding	Pathogenic
15	44569461	GTA	G	A44569463G	SPG11	NM_025137.4(SPG11):c.6520_6521del:p.Tyr2174fs	coding	Pathogenic
15	44570614	ACGTCAGGGTGAAGCAATGATGGG	A	G44570616C	SPG11	NM_025137.4(SPG11):c.6365_6387del:p.Ala2122fs	coding	Pathogenic
15	44572690	CAGTTCCCCATGGGGAACGG	C	T44572693G	SPG11	NM_025137.4(SPG11):c.6317_6335del:p.Ser2106fs	coding	Pathogenic
15	44572694	TC	T	C44572698A	SPG11	NM_025137.4(SPG11):c.6331del:p.Glu2111fs	coding	Pathogenic
15	44572755	GAC	G	C44572759G	SPG11	NM_025137.4(SPG11):c.6269_6270del:p.Cys2090fs	coding	Pathogenic
15	44572764	TG	T	G44572766T	SPG11	NM_025137.4(SPG11):c.6261del:p.Thr2088fs	coding	Pathogenic
15	44572806	A	ACATCT	G44572812C	SPG11	NM_025137.4(SPG11):c.6215_6219dup:p.Phe2074fs	coding	Pathogenic
15	44573574	C	CAT	C44573575A	SPG11	NM_025137.4(SPG11):c.6177_6178insAT:p.Glu2060fs	coding	Pathogenic
15	44573616	G	GCT	T44573619C	SPG11	NM_025137.4(SPG11):c.6134_6135dup:p.Pro2046fs	coding	Pathogenic
15	44573628	G	GT	G44573630T	SPG11	NM_025137.4(SPG11):c.6123dup:p.Gln2042fs	coding	Pathogenic
15	44574025	CAG	C	A44574028T	SPG11	NM_025137.4(SPG11):c.6007-282_6007-281del	noncoding	Benign
15	44574886	A	AC	T44574891C	SPG11	NM_025137.4(SPG11):c.6006+15dup	noncoding	Benign
15	44574921	CAG	C	A44574924G	SPG11	NM_025137.4(SPG11):c.5985_5986del:p.Cys1996fs	coding	Pathogenic
15	44574935	AC	A	C44574936A	SPG11	NM_025137.4(SPG11):c.5972del:p.Cys1991fs	coding	Pathogenic/Likely_pathogenic
15	44575006	G	GCA	T44575010A	SPG11	NM_025137.4(SPG11):c.5900_5901dup:p.Pro1968fs	coding	Pathogenic
15	44584357	GC	G	C44584358A	SPG11	NM_025137.4(SPG11):c.5322del:p.Leu1775fs	coding	Pathogenic
15	44584431	GA	G	A44584433G	SPG11	NM_025137.4(SPG11):c.5248del:p.Ser1750fs	coding	Pathogenic
15	44585602	TAA	T	A44585622G	SPG11	NM_025137.4(SPG11):c.5121+32_5121+33del	noncoding	Benign
15	44585602	TA	T	A44585623G	SPG11	NM_025137.4(SPG11):c.5121+33del	noncoding	Benign
15	44585602	T	TAAA	G44585624A	SPG11	NM_025137.4(SPG11):c.5121+13_5121+15dup	noncoding	Benign
15	44585602	T	TA	G44585624A	SPG11	NM_025137.4(SPG11):c.5121+13dup	noncoding	Benign
15	44585983	G	GT	G44586005T	SPG11	NM_025137.4(SPG11):c.4907-154dup	noncoding	Benign
15	44585983	G	GTT	G44586005T	SPG11	NM_025137.4(SPG11):c.4907-154_4907-153dup	noncoding	Benign
15	44592400	CA	C	A44592401G	SPG11	NM_025137.4(SPG11):c.4673del:p.Leu1558fs	coding	Pathogenic
15	44595346	GT	G	T44595348C	SPG11	NM_025137.4(SPG11):c.4547del:p.Asn1516fs	coding	Pathogenic
15	44595436	GA	G	A44595437G	SPG11	NM_025137.4(SPG11):c.4457del:p.Leu1486fs	coding	Pathogenic
15	44596110	G	GTA	A44596111T	SPG11	NM_025137.4(SPG11):c.4406_4407insTA:p.Leu1470fs	coding	Pathogenic
15	44596225	AG	A	G44596226T	SPG11	NM_025137.4(SPG11):c.4291del:p.Leu1431fs	coding	Pathogenic
15	44596226	G	GT	C44596229T	SPG11	NM_025137.4(SPG11):c.4290dup:p.Leu1431fs	coding	Pathogenic
15	44596835	AT	A	T44596836C	SPG11	NM_025137.4(SPG11):c.4109del:p.Asp1370fs	coding	Pathogenic
15	44598356	GT	G	T44598359A	SPG11	NM_025137.4(SPG11):c.3909del:p.Lys1303fs	coding	Pathogenic
15	44598776	TGAAGGTATGTG	T	T44598782A	SPG11	NM_025137.4(SPG11):c.3736_3746del:p.His1246fs	coding	Pathogenic
15	44598835	T	TG	C44598836G	SPG11	NM_025137.4(SPG11):c.3687_3688insC:p.Ile1230fs	coding	Pathogenic
15	44600579	C	CA	T44600581A	SPG11	NM_025137.4(SPG11):c.3573dup:p.Ala1192fs	coding	Pathogenic
15	44606034	CT	C	T44606035A	SPG11	NM_025137.4(SPG11):c.3510del:p.Ala1171fs	coding	Pathogenic
15	44608449	TA	T	A44608451G	SPG11	NM_025137.4(SPG11):c.3447del:p.Ile1150fs	coding	Pathogenic
15	44608611	T	TAA	C44608619A	SPG11	NM_025137.4(SPG11):c.3292-8_3292-7dup	noncoding	Benign
15	44613464	T	TA	T44613470A	SPG11	NM_025137.4(SPG11):c.3110dup:p.Leu1037fs	coding	Pathogenic
15	44615366	TA	T	A44615368C	SPG11	NM_025137.4(SPG11):c.3034del:p.Tyr1012fs	coding	Pathogenic
15	44615551	CA	C	A44615558C	SPG11	NM_025137.4(SPG11):c.2849del:p.Leu950fs	coding	Pathogenic
15	44620552	CTTTT	C	T44620556G	SPG11	NM_025137.4(SPG11):c.2621-153_2621-150del	noncoding	Benign
15	44621842	T	TC	T44621845C	SPG11	NM_025137.4(SPG11):c.2536dup:p.Asp846fs	coding	Pathogenic
15	44621907	GA	G	A44621913T	SPG11	NM_025137.4(SPG11):c.2471del:p.Phe824fs	coding	Pathogenic
15	44621953	A	AT	A44621967T	SPG11	NM_025137.4(SPG11):c.2445-32dup	noncoding	Benign/Likely_benign
15	44622264	AT	A	T44622265A	SPG11	NM_025137.4(SPG11):c.2399del:p.Tyr800fs	coding	Pathogenic
15	44622301	C	CT	C44622306T	SPG11	NM_025137.4(SPG11):c.2362dup:p.Arg788fs	coding	Pathogenic
15	44622324	A	AT	C44622332T	SPG11	NM_025137.4(SPG11):c.2339dup:p.Asn780fs	coding	Pathogenic
15	44622324	ATTTT	A	T44622328C	SPG11	NM_025137.4(SPG11):c.2336_2339del:p.Lys779fs	coding	Pathogenic
15	44628768	CTT	C	T44628770A	SPG11	NM_025137.4(SPG11):c.1966_1967del:p.Lys656fs	coding	Pathogenic/Likely_pathogenic
15	44629302	CTGA	AT	C44629302A	SPG11	NM_025137.4(SPG11):c.1819_1822delinsAT:p.Ser607fs	coding	Pathogenic
15	44629304	GA	G	A44629308G	SPG11	NM_025137.4(SPG11):c.1819del:p.Ser607fs	coding	Pathogenic
15	44633498	CACTT	C	A44633503C	SPG11	NM_025137.4(SPG11):c.1735+3_1735+6del	noncoding	Pathogenic
15	44633543	T	TGA	C44633544G	SPG11	NM_025137.4(SPG11):c.1696_1697insTC:p.Asp566fs	coding	Pathogenic
15	44633585	T	TTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGATTTTCC	G44633587C	SPG11	NM_025137.4(SPG11):c.1654_1655insGGAAAATCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGA:p.Ser551_Lys552insArgLysIlePhePhePhePhePhePhePheXaaXaaXaaGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGly	coding	Pathogenic
15	44633682	G	GA	T44633692A	SPG11	NM_025137.4(SPG11):c.1603-54dup	noncoding	Benign
15	44648874	C	CA	T44648876A	SPG11	NM_025137.4(SPG11):c.1593dup:p.Ala532fs	coding	Pathogenic
15	44651653	C	CAA	G44651655A	SPG11	NM_025137.4(SPG11):c.1293_1294insTT:p.Val432fs	coding	Pathogenic
15	44651671	C	CT	A44651673T	SPG11	NM_025137.4(SPG11):c.1275dup:p.Glu426fs	coding	Pathogenic
15	44651803	GCA	G	A44651807T	SPG11	NM_025137.4(SPG11):c.1142_1143del:p.Val381fs	coding	Pathogenic
15	44651816	GT	G	T44651817G	SPG11	NM_025137.4(SPG11):c.1130del:p.His377fs	coding	Pathogenic
15	44652182	AG	A	G44652184A	SPG11	NM_025137.4(SPG11):c.953del:p.Pro318fs	coding	Pathogenic
15	44657190	T	TG	A44657192G	SPG11	NM_025137.4(SPG11):c.773dup:p.Phe259fs	coding	Pathogenic
15	44660440	T	TG	A44660442G	SPG11	NM_025137.4(SPG11):c.433dup:p.Gln145fs	coding	Pathogenic
15	44663426	G	GCCCC	G44663431C	SPG11	NM_025137.4(SPG11):c.218_221dup:p.Gly76fs	coding	Pathogenic
15	44663498	CTGTGTGCGCAGCTGCGCCCGGGAGCCGAGCTGCCCCATC	GA	C44663498G	SPG11	NM_025137.4(SPG11):c.111_150delinsTC:p.Met38fs	coding	Pathogenic
15	44973888	AAC	A	A44973889T	TERB2	NM_152448.3(TERB2):c.457_458del:p.Thr153fs	coding	Pathogenic
15	44978508	C	CA	T44978510A	TERB2	NM_152448.3(TERB2):c.544dup:p.Met182fs	coding	Pathogenic
15	45068442	TGA	T	A45068448T	SORD	NM_003104.6(SORD):c.610+197GA[2]	noncoding	Benign
15	45068848	AT	A	T45068868A	SORD	NM_003104.6(SORD):c.611-9del	noncoding	Benign
15	45094561	A	AC	T45094564C	DUOX2	NM_001363711.2(DUOX2):c.4524+1dup	noncoding	Pathogenic
15	45097333	AG	A	G45097335A	DUOX2	NM_001363711.2(DUOX2):c.3751del:p.Leu1251fs	coding	Pathogenic/Likely_pathogenic
15	45101894	T	TC	T45101897C	DUOX2	NM_001363711.2(DUOX2):c.2749dup:p.Glu917fs	coding	Pathogenic
15	45102269	G	GGT	C45102274G	DUOX2	NM_001363711.2(DUOX2):c.2655-284AC[3]	noncoding	Benign
15	45103703	GT	G	T45103714C	DUOX2	NM_001363711.2(DUOX2):c.2654+256del	noncoding	Benign
15	45106272	CA	C	A45106273G	DUOX2	NM_001363711.2(DUOX2):c.2000del:p.Leu667fs	coding	Pathogenic
15	45106577	CTT	C	T45106580G	DUOX2	NM_001363711.2(DUOX2):c.1894_1895del:p.Lys632fs	coding	Pathogenic
15	45106589	CT	C	T45106591G	DUOX2	NM_001363711.2(DUOX2):c.1883del:p.Lys628fs	coding	Pathogenic/Likely_pathogenic
15	45107850	C	CAA	G45107873A	DUOX2	NM_001363711.2(DUOX2):c.1574+175_1574+176dup	noncoding	Benign
15	45107850	C	CA	G45107873A	DUOX2	NM_001363711.2(DUOX2):c.1574+175dup	noncoding	Benign
15	45107885	GA	G	A45107890G	DUOX2	NM_001363711.2(DUOX2):c.1574+161del	noncoding	Benign
15	45107886	A	AAAAAGAAAAAG	G45107893A	DUOX2	NM_001363711.2(DUOX2):c.1574+160_1574+161insTCTTTTCTTTT	noncoding	Benign
15	45107886	A	AAAAAG	G45107893A	DUOX2	NM_001363711.2(DUOX2):c.1574+156_1574+160dup	noncoding	Benign
15	45108159	CC	TG	C45108159T	DUOX2	NM_001363711.2(DUOX2):c.1461_1462delinsCA:p.Gly488Arg	coding	Pathogenic
15	45108415	A	AC	A45108418C	DUOX2	NM_001363711.2(DUOX2):c.1399-195dup	noncoding	Benign
15	45109353	CA	C	A45109368G	DUOX2	NM_001363711.2(DUOX2):c.1234+170del	noncoding	Benign
15	45111202	AG	A	G45111204T	DUOX2	NM_001363711.2(DUOX2):c.790del:p.Leu264fs	coding	Pathogenic
15	45111358	GC	G	C45111362G	DUOX2	NM_001363711.2(DUOX2):c.715+25del	noncoding	Benign
15	45111477	CGGGCCCCGACGCCAGCT	C	G45111479T	DUOX2	NM_001363711.2(DUOX2):c.605_621del:p.Gln202fs	coding	Pathogenic
15	45111965	TG	T	G45111969C	DUOX2	NM_001363711.2(DUOX2):c.326-11del	noncoding	Benign
15	45112994	A	AC	A45112997C	DUOX2	NM_001363711.2(DUOX2):c.152dup:p.Ala52fs	coding	Pathogenic
15	45114695	G	GT	G45114701T	DUOXA2	NM_207581.4(DUOXA2):c.95dup:p.Leu32fs	coding	Pathogenic/Likely_pathogenic
15	45116757	ACG	A	C45116758T	DUOXA2	NM_207581.4(DUOXA2):c.554+29_554+30del	noncoding	Benign
15	45364870	CAA	C	A45364877C	GATM	NM_001482.3(GATM):c.979-12_979-11del	noncoding	Benign/Likely_benign
15	45364870	CA	C	A45364878C	GATM	NM_001482.3(GATM):c.979-11del	noncoding	Benign
15	45366458	TCC	T	C45366460T	GATM	NM_001482.3(GATM):c.724_725del:p.Gly242fs	coding	Pathogenic
15	45368270	C	CA	T45368277A	GATM	NM_001482.3(GATM):c.485-11dup	noncoding	Benign
15	45369696	T	TA	T45369698A	GATM	NM_001482.3(GATM):c.289-176dup	noncoding	Benign
15	45376405	GCTTCAGGAAGCT	G	C45376416G	GATM	NM_001482.3(GATM):c.288+184_288+195del	noncoding	Benign
15	45403034	T	TGGGAGGTCTTTCGG	A45403049G	SPATA5L1	NM_024063.3(SPATA5L1):c.606_619dup:p.Glu207fs	coding	Pathogenic
15	45421094	CAA	C	A45421095G	SPATA5L1	NM_024063.3(SPATA5L1):c.2147_2148del:p.Gln716fs	coding	Pathogenic
15	45605433	TGA	AT	T45605433A	BLOC1S6	NM_012388.4(BLOC1S6):c.318_320delinsAT:p.Glu107fs	coding	Pathogenic
15	45605445	CTA	C	A45605447C	BLOC1S6	NM_012388.4(BLOC1S6):c.332_333del:p.Tyr111fs	coding	Pathogenic/Likely_pathogenic
15	45605573	GT	G	T45605587C	BLOC1S6	NM_012388.4(BLOC1S6):c.399+73del	noncoding	Benign
15	45606377	A	AT	A45606388T	BLOC1S6	NM_012388.4(BLOC1S6):c.400-8dup	noncoding	Benign
15	45669967	CT	C	T45669968G	SQOR	NM_021199.4(SQOR):c.446del:p.Leu149fs	coding	Pathogenic
15	48121062	CCAAACATGGG	C	A48121064G	SLC24A5	NM_205850.3(SLC24A5):c.20_29del:p.Gln7fs	coding	Pathogenic
15	48139104	TA	T	A48139106C	SLC24A5	NM_205850.3(SLC24A5):c.1009del:p.Thr337fs	coding	Pathogenic
15	48234752	C	CA	T48234766A	SLC12A1	NM_000338.3(SLC12A1):c.1088-112dup	noncoding	Benign
15	48246782	A	AAAC	G48246797C	SLC12A1	NM_000338.3(SLC12A1):c.1453-126AAC[5]	noncoding	Benign
15	48249280	A	AG	A48249284G	SLC12A1	NM_000338.3(SLC12A1):c.1685-292dup	noncoding	Benign
15	48249337	A	AG	T48249339G	SLC12A1	NM_000338.3(SLC12A1):c.1685-237dup	noncoding	Benign
15	48288506	G	GA	T48288513A	SLC12A1	NM_000338.3(SLC12A1):c.2869dup:p.Ile957fs	coding	Pathogenic/Likely_pathogenic
15	48302626	C	CAAAA	T48302651A	SLC12A1	NM_000338.3(SLC12A1):c.3165-103_3165-100dup	noncoding	Benign
15	48302626	C	CAAA	T48302651A	SLC12A1	NM_000338.3(SLC12A1):c.3165-102_3165-100dup	noncoding	Benign
15	48302626	C	CAA	T48302651A	SLC12A1	NM_000338.3(SLC12A1):c.3165-101_3165-100dup	noncoding	Benign
15	48302626	C	CA	T48302651A	SLC12A1	NM_000338.3(SLC12A1):c.3165-100dup	noncoding	Benign
15	48410029	GC	G	C48410033T	FBN1	NM_000138.5(FBN1):c.*960del	noncoding	Benign/Likely_benign
15	48411006	TG	T	G48411008A	FBN1	NM_000138.5(FBN1):c.8599del:p.Gln2867fs	coding	Pathogenic
15	48411029	AC	A	C48411032A	FBN1	NM_000138.5(FBN1):c.8576del:p.Gly2859fs	coding	Pathogenic
15	48411089	C	CT	A48411095T	FBN1	NM_000138.5(FBN1):c.8516dup:p.Lys2840fs	coding	Pathogenic
15	48411106	TA	T	A48411107C	FBN1	NM_000138.5(FBN1):c.8499del:p.Ser2833fs	coding	Pathogenic
15	48411149	C	CT	G48411153T	FBN1	NM_000138.5(FBN1):c.8456dup:p.Lys2820fs	coding	Pathogenic
15	48411207	T	TC	A48411209C	FBN1	NM_000138.5(FBN1):c.8398dup:p.Glu2800fs	coding	Pathogenic
15	48411278	T	TCGAACCTTGTTACTGA	T48411297A	FBN1	NM_000138.5(FBN1):c.8312_8327dup:p.Arg2776_Ile2777insGlnTer	coding	Pathogenic
15	48411282	AC	A	C48411284T	FBN1	NM_000138.5(FBN1):c.8323del:p.Val2775fs	coding	Pathogenic
15	48411370	C	CA	G48411372A	FBN1	NM_000138.5(FBN1):c.8235dup:p.Glu2746Ter	coding	Pathogenic
15	48412592	C	CGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCA	T48412633G	FBN1	NM_000138.5(FBN1):c.8163_8202dup:p.Glu2735fs	coding	Pathogenic
15	48412676	CA	C	A48412677T	FBN1	NM_000138.5(FBN1):c.8118del:p.Asp2706fs	coding	Pathogenic
15	48412689	ACT	A	C48412690G	FBN1	NM_000138.5(FBN1):c.8104_8105del:p.Ser2702fs	coding	Pathogenic
15	48412691	T	TA	G48412692A	FBN1	NM_000138.5(FBN1):c.8103_8104insT:p.Ser2702Ter	coding	Pathogenic
15	48414894	TAA	T	A48414909G	FBN1	NM_000138.5(FBN1):c.8051+640_8051+641del	noncoding	Benign
15	48414894	TA	T	A48414910G	FBN1	NM_000138.5(FBN1):c.8051+641del	noncoding	Benign
15	48415570	C	CCT	A48415571C	FBN1	NM_000138.5(FBN1):c.8016_8017insAG:p.Gly2673fs	coding	Pathogenic
15	48415574	CAG	C	A48415575G	FBN1	NM_000138.5(FBN1):c.8011_8012del:p.Leu2671fs	coding	Pathogenic
15	48415578	T	TTATTACCACACAGGTTACCGAGGGTG	A48415579T	FBN1	NM_000138.5(FBN1):c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA:p.Tyr2670fs	coding	Pathogenic
15	48415679	GC	G	C48415681G	FBN1	NM_000138.5(FBN1):c.7907del:p.Gly2636fs	coding	Pathogenic
15	48420502	AT	A	T48420510C	FBN1	NM_000138.5(FBN1):c.7819+184del	noncoding	Benign
15	48420696	GGT	G	G48420697T	FBN1	NM_000138.5(FBN1):c.7808_7809del:p.Asn2603fs	coding	Pathogenic
15	48420713	TGGAGGTA	T	G48420715C	FBN1	NM_000138.5(FBN1):c.7786_7792del:p.Tyr2596fs	coding	Pathogenic
15	48420799	GTCCACGT	G	T48420800C	FBN1	NM_000138.5(FBN1):c.7700_7706del:p.Asp2567fs	coding	Pathogenic
15	48421082	C	CT	A48421095T	FBN1	NM_000138.5(FBN1):c.7700-288dup	noncoding	Benign
15	48421082	CT	C	T48421094A	FBN1	NM_000138.5(FBN1):c.7700-277del	noncoding	Benign
15	48421579	GAT	G	A48421580C	FBN1	NM_000138.5(FBN1):c.7676_7677del:p.Asp2559fs	coding	Pathogenic
15	48421639	TG	T	G48421640C	FBN1	NM_000138.5(FBN1):c.7617del:p.Ile2540fs	coding	Pathogenic
15	48421646	AG	A	G48421647A	FBN1	NM_000138.5(FBN1):c.7610del:p.Ser2537fs	coding	Pathogenic
15	48421953	AATGCAGGACGT	A	C48421957G	FBN1	NM_000138.5(FBN1):c.7558_7568del:p.His2519_Thr2520insTer	coding	Pathogenic
15	48422013	G	GGTGTTAA	C48422021G	FBN1	NM_000138.5(FBN1):c.7502_7508dup:p.Thr2503_Ile2504insTer	coding	Pathogenic
15	48422017	TTAACACA	T	A48422020G	FBN1	NM_000138.5(FBN1):c.7498_7504del:p.Cys2500fs	coding	Pathogenic
15	48422031	C	CT	G48422033T	FBN1	NM_000138.5(FBN1):c.7490dup:p.Phe2498fs	coding	Pathogenic
15	48422046	CTTGG	C	G48422050C	FBN1	NM_000138.5(FBN1):c.7472_7475del:p.Thr2491fs	coding	Pathogenic
15	48425412	GC	AT	G48425412A	FBN1	NM_000138.5(FBN1):c.7409_7410delinsAT:p.Cys2470Tyr	coding	Pathogenic
15	48425439	G	GT	G48425445T	FBN1	NM_000138.5(FBN1):c.7382dup:p.Asn2461fs	coding	Pathogenic
15	48425754	CA	C	A48425755G	FBN1	NM_000138.5(FBN1):c.7314del:p.Thr2440fs	coding	Pathogenic
15	48425819	TC	T	C48425823A	FBN1	NM_000138.5(FBN1):c.7249del:p.Glu2417fs	coding	Pathogenic
15	48425823	CA	C	A48425824T	FBN1	NM_000138.5(FBN1):c.7245del:p.Asn2415fs	coding	Pathogenic
15	48425830	GCAAACATCGTGAATAA	G	A48425832C	FBN1	NM_000138.5(FBN1):c.7223_7238del:p.Val2408fs	coding	Pathogenic
15	48427609	TC	T	C48427610T	FBN1	NM_000138.5(FBN1):c.7161del:p.Lys2388fs	coding	Pathogenic
15	48427618	CCA	C	C48427621G	FBN1	NM_000138.5(FBN1):c.7151_7152del:p.Val2384fs	coding	Pathogenic/Likely_pathogenic
15	48427631	G	GA	G48427635A	FBN1	NM_000138.5(FBN1):c.7139dup:p.Gln2381fs	coding	Pathogenic
15	48427726	GAC	G	C48427730T	FBN1	NM_000138.5(FBN1):c.7043_7044del:p.Cys2348fs	coding	Pathogenic
15	48427750	T	TGAAGC	A48427756G	FBN1	NM_000138.5(FBN1):c.7016_7020dup:p.Thr2341fs	coding	Pathogenic
15	48428346	CA	C	A48428348G	FBN1	NM_000138.5(FBN1):c.6996del:p.Asp2333fs	coding	Pathogenic
15	48428408	CCACGGGTGTTGAGGCAGCG	C	A48428410C	FBN1	NM_000138.5(FBN1):c.6916_6934del:p.Arg2306fs	coding	Pathogenic
15	48428410	A	AC	G48428412C	FBN1	NM_000138.5(FBN1):c.6932dup:p.Gly2312fs	coding	Pathogenic
15	48428411	CG	C	G48428414T	FBN1	NM_000138.5(FBN1):c.6931del:p.Arg2311fs	coding	Pathogenic
15	48428435	TCA	T	C48428438G	FBN1	NM_000138.5(FBN1):c.6906_6907del:p.Cys2302_Glu2303delinsTer	coding	Pathogenic
15	48428446	TG	T	G48428448C	FBN1	NM_000138.5(FBN1):c.6896del:p.Pro2299fs	coding	Pathogenic
15	48430672	TA	T	A48430673C	FBN1	NM_000138.5(FBN1):c.6869del:p.Val2290fs	coding	Pathogenic
15	48430754	ATT	A	T48430756G	FBN1	NM_000138.5(FBN1):c.6786_6787del:p.Gln2262fs	coding	Pathogenic
15	48430767	TAC	T	C48430769G	FBN1	NM_000138.5(FBN1):c.6773_6774del:p.Cys2258fs	coding	Pathogenic
15	48430768	ACAGTC	A	C48430769A	FBN1	NM_000138.5(FBN1):c.6769_6773del:p.Asp2257fs	coding	Pathogenic
15	48430803	CT	C	T48430804G	FBN1	NM_000138.5(FBN1):c.6740-2del	coding	Pathogenic/Likely_pathogenic
15	48432867	TTTGCACATCC	T	T48432869A	FBN1	NM_000138.5(FBN1):c.6728_6737del:p.Arg2243fs	coding	Pathogenic
15	48432926	AC	A	C48432929A	FBN1	NM_000138.5(FBN1):c.6678del:p.Ser2227fs	coding	Pathogenic
15	48432929	CA	C	A48432930T	FBN1	NM_000138.5(FBN1):c.6675del:p.Thr2224_Tyr2225insTer	coding	Pathogenic
15	48432931	TA	T	A48432933G	FBN1	NM_000138.5(FBN1):c.6673del:p.Tyr2225fs	coding	Pathogenic
15	48434619	CT	C	T48434620C	FBN1	NM_000138.5(FBN1):c.6590del:p.Glu2197fs	coding	Pathogenic
15	48434645	C	CAAAACCTCCAATCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A48434659G	FBN1	NM_000138.5(FBN1):c.6564_6565insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGATTGGAGGTTTT:p.Glu2189delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer	coding	Pathogenic
15	48434656	ATCAC	A	T48434657A	FBN1	NM_000138.5(FBN1):c.6550_6553del:p.Val2184fs	coding	Pathogenic
15	48437016	A	AC	A48437019C	FBN1	NM_000138.5(FBN1):c.6440dup:p.Ser2148fs	coding	Pathogenic
15	48437033	AC	A	C48437034T	FBN1	NM_000138.5(FBN1):c.6423del:p.Gln2141fs	coding	Pathogenic
15	48437042	GT	G	T48437045A	FBN1	NM_000138.5(FBN1):c.6414del:p.Lys2138fs	coding	Pathogenic
15	48437064	GC	G	C48437065A	FBN1	NM_000138.5(FBN1):c.6392del:p.Cys2131fs	coding	Pathogenic
15	48437089	GA	G	A48437097T	FBN1	NM_000138.5(FBN1):c.6380-13del	noncoding	Benign
15	48437362	A	AT	A48437364T	FBN1	NM_000138.5(FBN1):c.6338dup:p.Tyr2113Ter	coding	Pathogenic
15	48437369	CA	C	A48437370T	FBN1	NM_000138.5(FBN1):c.6331del:p.Cys2111fs	coding	Pathogenic
15	48437378	CG	C	G48437380A	FBN1	NM_000138.5(FBN1):c.6322del:p.Arg2108fs	coding	Pathogenic
15	48437771	C	CA	G48437773A	FBN1	NM_000138.5(FBN1):c.6309dup:p.Asp2104Ter	coding	Pathogenic
15	48437795	AG	A	G48437799T	FBN1	NM_000138.5(FBN1):c.6285del:p.Cys2096fs	coding	Pathogenic
15	48437826	ACAGCAG	A	G48437829T	FBN1	NM_000138.5(FBN1):c.6249_6254del:p.Cys2084_Cys2085del	coding	Pathogenic
15	48437861	TG	T	G48437864T	FBN1	NM_000138.5(FBN1):c.6219del:p.Lys2074fs	coding	Pathogenic
15	48441763	GAC	G	C48441767G	FBN1	NM_000138.5(FBN1):c.6119_6120del:p.Cys2040fs	coding	Pathogenic
15	48441770	AC	A	C48441771A	FBN1	NM_000138.5(FBN1):c.6113del:p.Cys2038fs	coding	Pathogenic
15	48441815	A	AAAGGG	T48441817A	FBN1	NM_000138.5(FBN1):c.6068_6069insCCCTT:p.Cys2024fs	coding	Pathogenic
15	48441830	GA	G	A48441831C	FBN1	NM_000138.5(FBN1):c.6053del:p.Val2018fs	coding	Pathogenic
15	48444548	CT	C	T48444550C	FBN1	NM_000138.5(FBN1):c.6029del:p.Lys2010fs	coding	Pathogenic
15	48444579	CA	C	A48444582T	FBN1	NM_000138.5(FBN1):c.5998del:p.Cys2000fs	coding	Pathogenic
15	48444640	C	CA	T48444641A	FBN1	NM_000138.5(FBN1):c.5937_5938insT:p.Glu1980Ter	coding	Pathogenic
15	48445143	CACATATATATAT	C	T48445159C	FBN1	NM_000138.5(FBN1):c.5917+221_5917+232del	noncoding	Benign
15	48445435	G	GA	C48445437A	FBN1	NM_000138.5(FBN1):c.5857dup:p.Ser1953fs	coding	Pathogenic
15	48445456	TG	T	G48445458C	FBN1	NM_000138.5(FBN1):c.5836del:p.Gln1946fs	coding	Pathogenic
15	48446777	CG	C	G48446779C	FBN1	NM_000138.5(FBN1):c.5716del:p.Arg1906fs	coding	Pathogenic
15	48448774	ACATGGTTT	GC	A48448774G	FBN1	NM_000138.5(FBN1):c.5657_5665delinsGC:p.Gln1886fs	coding	Pathogenic
15	48448861	A	AT	A48448863T	FBN1	NM_000138.5(FBN1):c.5577dup:p.Cys1860fs	coding	Pathogenic
15	48452572	TC	T	C48452574T	FBN1	NM_000138.5(FBN1):c.5534del:p.Gly1845fs	coding	Pathogenic
15	48452589	GGTAGCCGGGCTTACA	G	A48452592C	FBN1	NM_000138.5(FBN1):c.5503_5517del:p.Cys1835_Tyr1839del	coding	Pathogenic
15	48452593	GC	G	C48452595G	FBN1	NM_000138.5(FBN1):c.5513del:p.Gly1838fs	coding	Pathogenic
15	48452632	G	GATGCATTC	G48452641A	FBN1	NM_000138.5(FBN1):c.5467_5474dup:p.Ile1825fs	coding	Pathogenic
15	48452636	CA	AT	C48452636A	FBN1	NM_000138.4(FBN1):c.5470_5471delinsAT:p.Cys1824Ile	coding	Pathogenic
15	48452711	AAGG	A	G48452714A	FBN1	NM_000138.5(FBN1):c.5423-30_5423-28del	noncoding	Benign
15	48456843	C	CGT	C48456873T	FBN1	NM_000138.5(FBN1):c.5297-109AC[15]	noncoding	Benign
15	48456843	C	CGTGT	C48456873T	FBN1	NM_000138.5(FBN1):c.5297-109AC[16]	noncoding	Benign
15	48456843	C	CGTGTGT	C48456873T	FBN1	NM_000138.5(FBN1):c.5297-109AC[17]	noncoding	Benign
15	48456843	C	CGTGTGTGTGT	C48456873T	FBN1	NM_000138.5(FBN1):c.5297-109AC[19]	noncoding	Benign
15	48456843	C	CGTGTGTGTGTGT	C48456873T	FBN1	NM_000138.5(FBN1):c.5297-109AC[20]	noncoding	Benign
15	48456843	C	CGTGTGTGTGTGTGTGT	C48456873T	FBN1	NM_000138.5(FBN1):c.5297-109AC[22]	noncoding	Benign
15	48463109	AG	A	G48463112C	FBN1	NM_000138.5(FBN1):c.5196del:p.Cys1733fs	coding	Pathogenic
15	48463194	CT	C	T48463195G	FBN1	NM_000138.5(FBN1):c.5111del:p.Gln1704fs	coding	Pathogenic
15	48463239	AT	A	T48463240C	FBN1	NM_000138.5(FBN1):c.5066del:p.Asp1689fs	coding	Pathogenic/Likely_pathogenic
15	48463253	T	TAA	G48463262A	FBN1	NM_000138.5(FBN1):c.5066-15_5066-14dup	noncoding	Benign
15	48463947	T	TA	C48463949A	FBN1	NM_000138.5(FBN1):c.5016dup:p.Ile1673fs	coding	Pathogenic/Likely_pathogenic
15	48463962	C	CCTGTACTGTACACTGTCATG	A48463963C	FBN1	NM_000138.5(FBN1):c.5001_5002insCATGACAGTGTACAGTACAG:p.Gly1668fs	coding	Pathogenic
15	48463991	CAG	C	G48463993T	FBN1	NM_000138.5(FBN1):c.4971_4972del:p.Ile1657fs	coding	Pathogenic
15	48465594	AG	A	G48465596T	FBN1	NM_000138.5(FBN1):c.4915del:p.Tyr1638_Leu1639insTer	coding	Pathogenic
15	48465631	CA	C	A48465634G	FBN1	NM_000138.5(FBN1):c.4878del:p.Phe1626fs	coding	Pathogenic
15	48465690	ATATC	A	T48465695A	FBN1	NM_000138.5(FBN1):c.4817-1_4819del	coding	Pathogenic
15	48465790	CT	C	T48465792C	FBN1	NM_000138.5(FBN1):c.4815del:p.Asp1606fs	coding	Pathogenic
15	48465809	AG	A	G48465811A	FBN1	NM_000138.5(FBN1):c.4796del:p.Pro1599fs	coding	Pathogenic
15	48465828	TC	T	C48465832T	FBN1	NM_000138.5(FBN1):c.4777del:p.Glu1593fs	coding	Pathogenic
15	48467796	AT	A	T48467798G	FBN1	NM_000138.5(FBN1):c.4747+141del	noncoding	Benign
15	48467951	AG	A	G48467953A	FBN1	NM_000138.5(FBN1):c.4733del:p.Pro1578fs	coding	Pathogenic
15	48467994	C	CAACA	G48467996A	FBN1	NM_000138.5(FBN1):c.4690_4691insTGTT:p.Cys1564fs	coding	Pathogenic
15	48468093	GA	G	A48468094G	FBN1	NM_000138.5(FBN1):c.4591del:p.Ser1531fs	coding	Pathogenic
15	48468094	AG	A	G48468095C	FBN1	NM_000138.5(FBN1):c.4590del:p.Ser1531fs	coding	Pathogenic
15	48468099	G	GT	A48468101T	FBN1	NM_000138.5(FBN1):c.4585dup:p.Thr1529fs	coding	Pathogenic
15	48468411	CCA	C	C48468412A	FBN1	NM_000138.5(FBN1):c.4581_4582del:p.Asp1528fs	noncoding	Pathogenic
15	48468418	AG	A	G48468419C	FBN1	NM_000138.5(FBN1):c.4575del:p.Cys1526fs	coding	Pathogenic
15	48468476	TG	T	G48468478A	FBN1	NM_000138.5(FBN1):c.4517del:p.Pro1506fs	coding	Pathogenic
15	48470681	TCA	T	C48470684G	FBN1	NM_000138.5(FBN1):c.4410_4411del:p.Cys1470_Glu1471delinsTer	coding	Pathogenic
15	48470684	CA	C	A48470685G	FBN1	NM_000138.5(FBN1):c.4408del:p.Cys1470fs	coding	Pathogenic
15	48470803	T	TA	C48470812A	FBN1	NM_000138.5(FBN1):c.4337-55dup	noncoding	Benign
15	48472458	TA	T	A48472478G	FBN1	NM_000138.5(FBN1):c.4336+92del	noncoding	Benign
15	48472458	T	TA	G48472479A	FBN1	NM_000138.5(FBN1):c.4336+73dup	noncoding	Benign
15	48474384	GA	G	A48474389G	FBN1	NM_000138.5(FBN1):c.4088-8del	noncoding	Benign
15	48474535	CT	C	T48474537A	FBN1	NM_000138.5(FBN1):c.4079del:p.Lys1360fs	coding	Pathogenic
15	48474558	CG	C	G48474561A	FBN1	NM_000138.5(FBN1):c.4056del:p.Trp1354fs	coding	Pathogenic/Likely_pathogenic
15	48474594	TG	T	G48474596T	FBN1	NM_000138.5(FBN1):c.4020del:p.Asn1341fs	coding	Pathogenic
15	48474611	TTG	T	T48474612C	FBN1	NM_000138.5(FBN1):c.4002_4003del:p.Lys1335fs	coding	Pathogenic
15	48474637	AC	A	C48474638A	FBN1	NM_000138.5(FBN1):c.3977del:p.Cys1326fs	coding	Pathogenic
15	48474639	AT	A	T48474641C	FBN1	NM_000138.5(FBN1):c.3975del:p.Glu1325fs	coding	Pathogenic
15	48481689	G	GC	A48481693C	FBN1	NM_000138.5(FBN1):c.3929dup:p.Tyr1311fs	coding	Pathogenic
15	48481712	A	AT	G48481714T	FBN1	NM_000138.5(FBN1):c.3906dup:p.Phe1303fs	coding	Pathogenic
15	48481714	G	GAGCC	T48481719A	FBN1	NM_000138.5(FBN1):c.3901_3904dup:p.Ser1302fs	coding	Pathogenic
15	48481716	GC	G	C48481718T	FBN1	NM_000138.5(FBN1):c.3902del:p.Gly1301fs	coding	Pathogenic
15	48483834	GT	G	T48483835C	FBN1	NM_000138.5(FBN1):c.3821del:p.Asp1274fs	coding	Pathogenic
15	48483839	CA	C	A48483840G	FBN1	NM_000138.5(FBN1):c.3816del:p.Glu1273fs	coding	Pathogenic
15	48483851	AT	A	T48483852C	FBN1	NM_000138.5(FBN1):c.3804del:p.Phe1269fs	coding	Pathogenic
15	48485469	CCATT	C	C48485474A	FBN1	NM_000138.5(FBN1):c.3613_3616del:p.Asn1205fs	coding	Pathogenic
15	48486986	GAAATA	G	A48487003C	FBN1	NM_000138.5(FBN1):c.3589+69TATTT[3]	noncoding	Benign
15	48487003	AATAAC	A	C48487023A	FBN1	NM_000138.5(FBN1):c.3589+52GTTAT[3]	noncoding	Benign
15	48487080	CA	C	A48487084T	FBN1	NM_000138.5(FBN1):c.3583del:p.Cys1195fs	coding	Pathogenic
15	48487129	G	GA	T48487131A	FBN1	NM_000138.5(FBN1):c.3534dup:p.Gln1179fs	coding	Pathogenic
15	48487138	CTA	C	A48487140G	FBN1	NM_000138.5(FBN1):c.3524_3525del:p.Ile1175fs	coding	Pathogenic
15	48487155	CG	C	G48487157C	FBN1	NM_000138.5(FBN1):c.3508del:p.Arg1170fs	coding	Pathogenic
15	48487200	TC	T	C48487201T	FBN1	NM_000138.5(FBN1):c.3464-1del	coding	Pathogenic
15	48487213	TAAG	T	G48487219C	FBN1	NM_000138.5(FBN1):c.3464-16_3464-14del	noncoding	Benign/Likely_benign
15	48487317	CACGCGGAG	AACGCGGAC	C48487317A	FBN1	NM_000138.5(FBN1):c.3450_3458delinsGTCCGCGTT:p.Ile1150_Cys1153delinsMetSerAlaPhe	coding	Pathogenic
15	48487366	GGTAACTTCCCT	G	G48487367C	FBN1	NM_000138.5(FBN1):c.3398_3408del:p.Glu1133fs	coding	Pathogenic
15	48487367	G	GT	A48487369T	FBN1	NM_000138.5(FBN1):c.3407dup:p.Tyr1136Ter	coding	Pathogenic
15	48487388	G	GCAAA	C48487395A	FBN1	NM_000138.5(FBN1):c.3383_3386dup:p.His1130fs	coding	Pathogenic
15	48487415	ATCTC	A	C48487419G	FBN1	NM_000138.5(FBN1):c.3356_3359del:p.Arg1119fs	coding	Pathogenic
15	48488128	TCA	T	C48488129T	FBN1	NM_000138.5(FBN1):c.3320_3321del:p.Met1107fs	coding	Pathogenic
15	48488131	TC	T	C48488132A	FBN1	NM_000138.5(FBN1):c.3318del:p.Met1106fs	coding	Pathogenic
15	48488221	A	ATATG	C48488226T	FBN1	NM_000138.5(FBN1):c.3225_3228dup:p.Ser1077fs	coding	Pathogenic
15	48488222	T	TA	T48488224A	FBN1	NM_000138.5(FBN1):c.3227dup:p.Ser1077fs	coding	Pathogenic
15	48488247	CA	C	A48488252C	FBN1	NM_000138.5(FBN1):c.3209-7del	noncoding	Benign
15	48488307	TTAAAGA	T	T48488314G	FBN1	NM_000138.5(FBN1):c.3208+55_3208+60del	noncoding	Benign
15	48488426	GC	G	C48488427T	FBN1	NM_000138.5(FBN1):c.3149del:p.Ser1050fs	coding	Pathogenic
15	48488431	CA	C	A48488433T	FBN1	NM_000138.5(FBN1):c.3144del:p.Ile1048fs	coding	Pathogenic
15	48488434	TGG	T	G48488435T	FBN1	NM_000138.5(FBN1):c.3140_3141del:p.Thr1047fs	coding	Pathogenic/Likely_pathogenic
15	48489894	TC	T	C48489896G	FBN1	NM_000138.5(FBN1):c.3038del:p.Gly1013fs	coding	Pathogenic
15	48492531	GT	G	T48492533A	FBN1	NM_000138.5(FBN1):c.2783del:p.Asn928fs	coding	Pathogenic
15	48492546	AT	A	T48492551A	FBN1	NM_000138.5(FBN1):c.2768del:p.Asn923fs	coding	Pathogenic
15	48492551	TAC	T	A48492556T	FBN1	NM_000138.5(FBN1):c.2762_2763del:p.Val920_Cys921insTer	coding	Pathogenic
15	48492561	TG	T	G48492564A	FBN1	NM_000138.5(FBN1):c.2753del:p.Pro918fs	coding	Pathogenic
15	48492594	G	GA	G48492604A	FBN1	NM_000138.5(FBN1):c.2729-17dup	noncoding	Benign/Likely_benign
15	48494246	ATATG	A	T48494247G	FBN1	NM_000138.5(FBN1):c.2682_2685del:p.Ile895fs	coding	Pathogenic
15	48494249	TG	T	G48494252A	FBN1	NM_000138.5(FBN1):c.2682del:p.Ile895fs	coding	Pathogenic/Likely_pathogenic
15	48494250	G	GGTAAA	G48494252T	FBN1	NM_000138.5(FBN1):c.2681_2682insTTTAC:p.Ile895fs	coding	Pathogenic
15	48495121	AC	A	C48495123A	FBN1	NM_000138.5(FBN1):c.2677+1del	noncoding	Pathogenic
15	48495494	CA	C	A48495497G	FBN1	NM_000138.5(FBN1):c.2513del:p.Leu838fs	coding	Pathogenic
15	48495507	GAAGAACATTCACAAATAA	G	A48495512G	FBN1	NM_000138.5(FBN1):c.2483_2500del:p.Phe828_Ser833del	coding	Pathogenic
15	48495515	TTCAC	T	T48495516A	FBN1	NM_000138.5(FBN1):c.2489_2492del:p.Cys830fs	coding	Pathogenic
15	48496217	CATTA	C	T48496220A	FBN1	NM_000138.5(FBN1):c.2298_2301del:p.Ile766fs	coding	Pathogenic
15	48496222	AT	A	T48496223A	FBN1	NM_000138.5(FBN1):c.2296del:p.Ile766fs	coding	Pathogenic
15	48497039	C	CA	T48497043A	FBN1	NM_000138.5(FBN1):c.2293+224dup	noncoding	Benign
15	48497266	CA	C	A48497268C	FBN1	NM_000138.5(FBN1):c.2292del:p.Asp765fs	coding	Pathogenic
15	48498999	GTCA	CAC	G48498999C	FBN1	NM_000138.5(FBN1):c.2150_2153delinsGTG:p.Met717fs	coding	Pathogenic
15	48503807	G	GT	G48503808T	FBN1	NM_000138.5(FBN1):c.2092_2093insA:p.Pro698fs	coding	Pathogenic
15	48503845	G	GC	A48503847C	FBN1	NM_000138.5(FBN1):c.2054dup:p.Cys685fs	coding	Pathogenic
15	48503930	ATG	A	G48503938C	FBN1	NM_000138.5(FBN1):c.1968_1969del:p.Met657fs	coding	Pathogenic
15	48505071	TTCACA	T	A48505074T	FBN1	NM_000138.5(FBN1):c.1909_1913del:p.Cys637fs	coding	Pathogenic
15	48505093	GT	G	T48505094G	FBN1	NM_000138.5(FBN1):c.1891del:p.Thr631fs	coding	Pathogenic
15	48505095	GT	G	T48505097G	FBN1	NM_000138.5(FBN1):c.1889del:p.Asn630fs	coding	Pathogenic
15	48505106	GC	G	C48505109A	FBN1	NM_000138.5(FBN1):c.1878del:p.Arg627fs	coding	Pathogenic
15	48505124	CA	C	A48505125G	FBN1	NM_000138.5(FBN1):c.1860del:p.Ile622fs	coding	Pathogenic
15	48505129	GT	G	T48505132C	FBN1	NM_000138.5(FBN1):c.1855del:p.Thr619fs	coding	Pathogenic
15	48505137	CT	C	T48505138C	FBN1	NM_000138.5(FBN1):c.1847del:p.Glu616fs	coding	Pathogenic
15	48508595	TC	T	C48508597A	FBN1	NM_000138.5(FBN1):c.1823del:p.Gly608fs	coding	Pathogenic
15	48508626	CA	C	A48508629T	FBN1	NM_000138.5(FBN1):c.1792del:p.Cys598fs	coding	Pathogenic
15	48510048	AC	A	C48510049A	FBN1	NM_000138.5(FBN1):c.1709del:p.Cys570fs	coding	Pathogenic/Likely_pathogenic
15	48510113	TG	T	G48510114T	FBN1	NM_000138.5(FBN1):c.1644del:p.Asn548fs	coding	Pathogenic
15	48513616	GTTGTTAAT	G	T48513617A	FBN1	NM_000138.5(FBN1):c.1513_1520del:p.Ile505fs	coding	Pathogenic
15	48513631	AC	A	C48513633A	FBN1	NM_000138.5(FBN1):c.1505del:p.Gly502fs	coding	Pathogenic
15	48513641	CA	C	A48513642G	FBN1	NM_000138.5(FBN1):c.1495del:p.Cys499fs	coding	Pathogenic
15	48515427	G	GC	A48515429C	FBN1	NM_000138.5(FBN1):c.1427dup:p.Cys476fs	coding	Pathogenic
15	48515463	GC	G	C48515464G	FBN1	NM_000138.5(FBN1):c.1391del:p.Arg464fs	coding	Pathogenic
15	48516264	GA	G	A48516266C	FBN1	NM_000138.5(FBN1):c.1245del:p.Pro416fs	coding	Pathogenic
15	48516293	AG	A	G48516297T	FBN1	NM_000138.5(FBN1):c.1216del:p.Gly407fs	coding	Pathogenic
15	48516324	G	GA	T48516327A	FBN1	NM_000138.5(FBN1):c.1185dup:p.Pro396fs	coding	Pathogenic/Likely_pathogenic
15	48520488	C	CT	C48520498T	FBN1	NM_000138.5(FBN1):c.1147+162dup	noncoding	Benign
15	48520724	TCACAGCAG	T	A48520728T	FBN1	NM_000138.5(FBN1):c.1074_1081del:p.Cys358_Asp361delinsTer	coding	Pathogenic
15	48520753	CTG	C	T48520756G	FBN1	NM_000138.5(FBN1):c.1051_1052del:p.Gln351fs	coding	Pathogenic
15	48520801	GTA	G	A48520803C	FBN1	NM_000138.5(FBN1):c.1003_1004del:p.Tyr335fs	coding	Pathogenic
15	48526149	T	GG	T48526149G	FBN1	NM_000138.5(FBN1):c.969delinsCC:p.Asp324fs	coding	Pathogenic
15	48526154	AG	A	G48526156T	FBN1	NM_000138.5(FBN1):c.963del:p.Ser322fs	coding	Pathogenic
15	48526155	GGT	G	G48526158A	FBN1	NM_000138.5(FBN1):c.961_962del:p.Thr321fs	coding	Pathogenic/Likely_pathogenic
15	48526172	GA	G	A48526173C	FBN1	NM_000138.5(FBN1):c.945del:p.Pro317fs	coding	Pathogenic
15	48526191	GCTGA	G	A48526195T	FBN1	NM_000138.5(FBN1):c.923_926del:p.Val308fs	coding	Pathogenic
15	48526192	CT	C	T48526193G	FBN1	NM_000138.5(FBN1):c.925del:p.Ser309fs	coding	Pathogenic
15	48526219	TCA	T	C48526222G	FBN1	NM_000138.5(FBN1):c.897_898del:p.Cys299_Glu300delinsTer	coding	Pathogenic
15	48526264	T	TA	G48526273A	FBN1	NM_000138.5(FBN1):c.863-10dup	noncoding	Benign
15	48534086	AT	A	T48534091G	FBN1	NM_000138.5(FBN1):c.855del:p.Lys285fs	coding	Pathogenic
15	48534146	CA	C	A48534147G	FBN1	NM_000138.5(FBN1):c.795del:p.Val266fs	coding	Pathogenic
15	48534172	CAG	C	A48534175C	FBN1	NM_000138.5(FBN1):c.768_769del:p.Cys257fs	coding	Pathogenic
15	48534230	GA	G	A48534242C	FBN1	NM_000138.5(FBN1):c.737-26del	noncoding	Benign
15	48537620	C	CTCCCGTGCGGATATTTGGA	A48537640T	FBN1	NM_000138.5(FBN1):c.708_726dup:p.Ala243fs	coding	Pathogenic
15	48537725	GC	G	C48537726G	FBN1	NM_000138.5(FBN1):c.621del:p.Leu208fs	coding	Pathogenic
15	48537727	G	GT	G48537733T	FBN1	NM_000138.5(FBN1):c.619dup:p.Thr207fs	coding	Pathogenic
15	48537743	TC	T	C48537746G	FBN1	NM_000138.5(FBN1):c.603del:p.Ile202fs	coding	Pathogenic
15	48537751	AG	A	G48537752T	FBN1	NM_000138.5(FBN1):c.595del:p.Leu199fs	coding	Pathogenic
15	48537769	TG	T	G48537771T	FBN1	NM_000138.5(FBN1):c.577del:p.Gln193fs	coding	Pathogenic
15	48537781	AC	A	C48537782A	FBN1	NM_000138.5(FBN1):c.565del:p.Thr188_Val189insTer	coding	Pathogenic
15	48596360	C	CAG	C48596363A	FBN1	NM_000138.5(FBN1):c.459_460dup:p.Cys154fs	coding	Pathogenic
15	48596366	CT	C	T48596369C	FBN1	NM_000138.5(FBN1):c.454del:p.Ser152fs	coding	Pathogenic
15	48600213	CA	C	A48600214G	FBN1	NM_000138.5(FBN1):c.367del:p.Cys123fs	coding	Pathogenic
15	48600238	GA	G	A48600246G	FBN1	NM_000138.5(FBN1):c.347-5del	noncoding	Benign/Likely_benign
15	48610754	AT	A	T48610755C	FBN1	NM_000138.5(FBN1):c.319del:p.Gln106_Ile107insTer	coding	Pathogenic
15	48610764	AT	A	T48610765G	FBN1	NM_000138.5(FBN1):c.309del:p.Ser104fs	coding	Pathogenic
15	48613039	GT	G	T48613043C	FBN1	NM_000138.5(FBN1):c.217del:p.Thr73fs	coding	Pathogenic
15	48613094	TA	T	A48613098C	FBN1	NM_000138.5(FBN1):c.165-3del	noncoding	Benign
15	48644764	ACGCATGATGCCGAGCCGCCACCGGCTCCCGCCGCCTCTTGC	A	A48644768G	FBN1	NM_000138.5(FBN1):c.-36_5del:p.Met1fs	coding	Pathogenic
15	48739364	TA	T	A48739372T	CEP152	NM_001194998.2(CEP152):c.4094-77del	noncoding	Benign
15	48741987	T	TCAAATAATATTTGCGCC	A48742004C	CEP152	NM_001194998.2(CEP152):c.3948_3949insGGCGCAAATATTATTTG:p.Ile1317delinsGlyAlaAsnIleIleTer	coding	Pathogenic
15	48748667	TA	T	A48748683G	CEP152	NM_001194998.2(CEP152):c.3467-58del	noncoding	Benign
15	48755998	CA	C	A48755999G	CEP152	NM_001194998.2(CEP152):c.3249del:p.Val1084fs	coding	Pathogenic/Likely_pathogenic
15	48767445	CTGA	C	G48767447A	CEP152	NM_001194998.2(CEP152):c.2034_2036del:p.Tyr678_Gln679delinsTer	coding	Pathogenic
15	48769098	CA	C	A48769102G	CEP152	NM_001194998.2(CEP152):c.1783-18del	noncoding	Benign
15	48781320	CAT	C	T48781322G	CEP152	NM_001194998.2(CEP152):c.1451_1452del:p.Leu483_Tyr484insTer	coding	Pathogenic
15	48783775	G	GTA	G48783791A	CEP152	NM_001194998.2(CEP152):c.1321+184TA[8]	noncoding	Benign
15	48783775	G	GTATA	G48783791A	CEP152	NM_001194998.2(CEP152):c.1321+184TA[9]	noncoding	Benign
15	48783775	G	GTATATA	G48783791A	CEP152	NM_001194998.2(CEP152):c.1321+184TA[10]	noncoding	Benign
15	48788800	CCTGTTCTTTA	C	C48788801A	CEP152	NM_001194998.2(CEP152):c.1164_1173del:p.Glu390fs	noncoding	Pathogenic
15	48796287	TATAC	T	T48796289C	CEP152	NM_001194998.2(CEP152):c.541-131_541-128del	noncoding	Benign
15	48796289	TACAC	T	C48796321T	CEP152	NM_001194998.2(CEP152):c.541-163GT[15]	noncoding	Benign
15	48796289	TAC	T	C48796323T	CEP152	NM_001194998.2(CEP152):c.541-163GT[16]	noncoding	Benign
15	48796289	T	TAC	T48796325C	CEP152	NM_001194998.2(CEP152):c.541-163GT[18]	noncoding	Benign
15	48797373	A	AC	A48797376C	CEP152	NM_001194998.2(CEP152):c.467dup:p.Gln157fs	coding	Pathogenic/Likely_pathogenic
15	48798261	CT	C	T48798274A	CEP152	NM_001194998.2(CEP152):c.88-211del	noncoding	Benign
15	48805535	C	CT	A48805553T	CEP152	NM_001194998.2(CEP152):c.87+11dup	noncoding	Benign
15	48805535	C	CTT	A48805553T	CEP152	NM_001194998.2(CEP152):c.87+11_87+12dup	noncoding	Benign
15	48805535	CT	C	T48805552A	CEP152	NM_001194998.2(CEP152):c.87+27del	noncoding	Benign
15	48805536	T	TC	T48805537C	CEP152	NM_001194998.2(CEP152):c.87+26_87+27insG	noncoding	Benign
15	50441511	ATTG	A	G50441514A	USP8	NM_005154.5(USP8):c.249+21_249+23del	noncoding	Benign
15	50498883	T	TTCTA	T50498891A	USP8	NM_005154.5(USP8):c.3172-16_3172-13dup	noncoding	Benign
15	50634326	AAAAT	A	T50634350A	TRPM7	NM_017672.6(TRPM7):c.1007+32ATTT[5]	noncoding	Benign
15	50725330	A	AAAAAC	A50725365C	SPPL2A	NM_032802.4(SPPL2A):c.1147-37GTTTT[7]	noncoding	Benign
15	50725330	AAAAACAAAAC	A	C50725355A	SPPL2A	NM_032802.4(SPPL2A):c.1147-37GTTTT[4]	noncoding	Benign
15	50725330	AAAAAC	A	C50725360A	SPPL2A	NM_032802.4(SPPL2A):c.1147-37GTTTT[5]	noncoding	Benign
15	50732686	T	TA	T50732691A	SPPL2A	NM_032802.4(SPPL2A):c.933-3dup	noncoding	Benign
15	50912197	C	CT	A50912198T	AP4E1	NM_007347.5(AP4E1):c.222+48_222+49insT	noncoding	Benign
15	50924899	CTTTA	C	A50924903G	AP4E1	NM_007347.5(AP4E1):c.421-195_421-192del	noncoding	Benign
15	50925216	CTAAG	C	G50925224A	AP4E1	NM_007347.5(AP4E1):c.542+5_542+8del	coding	Pathogenic/Likely_pathogenic
15	50928714	GT	G	T50928727A	AP4E1	NM_007347.5(AP4E1):c.543-282del	noncoding	Benign
15	50928714	GTT	G	T50928726A	AP4E1	NM_007347.5(AP4E1):c.543-283_543-282del	noncoding	Benign
15	50934696	TGGTA	CC	T50934696C	AP4E1	NM_007347.5(AP4E1):c.942_943+3delinsCC	coding	Pathogenic
15	50948201	ATGCAGTGACTT	A	G50948203A	AP4E1	NM_007347.5(AP4E1):c.1316+44_1316+54del	noncoding	Benign
15	50949868	T	TNN	G50949869N	AP4E1	NM_007347.5(AP4E1):c.1359_1360insNN:p.Val454fs	coding	Pathogenic
15	50968378	G	GTAAT	T50968384A	AP4E1	NM_007347.5(AP4E1):c.1966+3_1966+6dup	coding	Benign
15	50997637	TC	T	C50997638A	AP4E1	NM_007347.5(AP4E1):c.2659del:p.His887fs	coding	Pathogenic
15	51000967	G	GT	G51000970T	AP4E1	NM_007347.5(AP4E1):c.3096-57dup	noncoding	Benign
15	51212497	C	CT	C51212499T	CYP19A1	NM_000103.4(CYP19A1):c.1085dup:p.Ser363fs	coding	Pathogenic
15	51215821	GA	G	A51215828G	CYP19A1	NM_000103.4(CYP19A1):c.744-5del	noncoding	Benign
15	51218582	G	GTT	A51218583T	CYP19A1	NM_000103.4(CYP19A1):c.701_702insAA:p.Phe234fs	coding	Pathogenic
15	51222379	TAG	T	A51222382G	CYP19A1	NM_000103.4(CYP19A1):c.596_597del:p.Thr198_Ser199insTer	coding	Pathogenic
15	51222474	AG	A	G51222477A	CYP19A1	NM_000103.4(CYP19A1):c.502del:p.Leu168fs	coding	Pathogenic
15	51222507	AG	A	G51222509C	CYP19A1	NM_000103.4(CYP19A1):c.469del:p.Val158fs	coding	Pathogenic
15	51227748	A	AAAG	T51227753A	CYP19A1	NM_000103.4(CYP19A1):c.451+28_451+30dup	noncoding	Benign
15	51227750	A	AAAG	G51227751A	CYP19A1	NM_000103.4(CYP19A1):c.451+28_451+29insCTT	noncoding	Benign
15	51227895	TAATGATTGTGCTTCATTATGTGG	T	T51227898C	CYP19A1	NM_000103.4(CYP19A1):c.312_334del:p.Phe104fs	coding	Pathogenic
15	51242806	A	AGAAAAAGGCCAGT	G51242822A	CYP19A1	NM_000103.4(CYP19A1):c.94_106dup:p.Leu36fs	coding	Pathogenic
15	51342013	AC	A	C51342014A	GLDN	NM_181789.4(GLDN):c.330del:p.Asp110fs	coding	Pathogenic
15	51342125	TCTTCTCCCCTGGCCAGG	T	T51342128G	GLDN	NM_181789.4(GLDN):c.363+81_363+97del	noncoding	Benign
15	51383683	GA	G	A51383684T	GLDN	NM_181789.4(GLDN):c.434-101del	noncoding	Benign
15	51394612	CAATA	C	A51394638T	GLDN	NM_181789.4(GLDN):c.542-222AATA[6]	noncoding	Benign
15	51397346	C	CCCTT	C51397350T	GLDN	NM_181789.4(GLDN):c.689-121_689-120insTCCT	noncoding	Benign
15	51451714	A	AT	A51451716T	DMXL2	NM_001378457.1(DMXL2):c.8697-18dup	noncoding	Benign
15	51453411	CTG	C	T51453412A	DMXL2	NM_001378457.1(DMXL2):c.8696+137_8696+138del	noncoding	Benign
15	51456206	AG	A	G51456207A	DMXL2	NM_001378457.1(DMXL2):c.8399-14del	noncoding	Benign
15	51456210	A	AAAGC	G51456216A	DMXL2	NM_001378457.1(DMXL2):c.8399-21_8399-18dup	noncoding	Benign
15	51458894	TAGCAGC	T	G51458914A	DMXL2	NM_001378457.1(DMXL2):c.7990-123GCT[6]	noncoding	Benign
15	51466148	CA	C	A51466158T	DMXL2	NM_001378457.1(DMXL2):c.7520+35del	noncoding	Benign
15	51466318	TA	T	A51466322G	DMXL2	NM_001378457.1(DMXL2):c.7393-8del	noncoding	Benign
15	51466383	CAT	C	A51466384G	DMXL2	NM_001378457.1(DMXL2):c.7393-74_7393-73del	noncoding	Benign
15	51471419	GA	G	A51471428T	DMXL2	NM_001378457.1(DMXL2):c.7214-19del	noncoding	Benign
15	51471419	G	GA	T51471429A	DMXL2	NM_001378457.1(DMXL2):c.7214-19dup	noncoding	Benign
15	51474726	TAAAC	T	A51474729G	DMXL2	NM_001378457.1(DMXL2):c.6965-138_6965-135del	noncoding	Benign
15	51478259	AT	A	T51478268A	DMXL2	NM_001378457.1(DMXL2):c.6833+11del	noncoding	Benign
15	51481642	T	TA	T51481647A	DMXL2	NM_001378457.1(DMXL2):c.5483-20dup	noncoding	Benign
15	51514569	C	CA	T51514579A	DMXL2	NM_001378457.1(DMXL2):c.2527-11dup	noncoding	Benign
15	51547115	TGATGCCAG	T	G51547116A	DMXL2	NM_001378457.1(DMXL2):c.746+107_746+114del	noncoding	Benign
15	51563993	GA	G	A51564000T	DMXL2	NM_001378457.1(DMXL2):c.500+131del	noncoding	Benign
15	51576183	TA	T	A51576203G	DMXL2	NM_001378457.1(DMXL2):c.88-3del	noncoding	Benign
15	51576183	T	TAAAAAA	G51576204A	DMXL2	NM_001378457.1(DMXL2):c.88-8_88-3dup	noncoding	Benign
15	51576183	T	TAAAAA	G51576204A	DMXL2	NM_001378457.1(DMXL2):c.88-7_88-3dup	noncoding	Benign
15	51576183	T	TAAAA	G51576204A	DMXL2	NM_001378457.1(DMXL2):c.88-6_88-3dup	noncoding	Benign
15	51576183	T	TAA	G51576204A	DMXL2	NM_001378457.1(DMXL2):c.88-4_88-3dup	noncoding	Benign
15	52122889	T	TAC	A52122907C	GNB5	NM_016194.4(GNB5):c.1177-137GT[9]	noncoding	Benign
15	52122889	T	TACAC	A52122907C	GNB5	NM_016194.4(GNB5):c.1177-137GT[10]	noncoding	Benign
15	52122977	C	CA	G52122981A	GNB5	NM_016194.4(GNB5):c.1177-212dup	noncoding	Benign
15	52123049	C	CTA	G52123050T	GNB5	NM_016194.4(GNB5):c.1177-282_1177-281insTA	noncoding	Benign
15	52124246	T	TA	C52124248A	GNB5	NM_016194.4(GNB5):c.1176+226dup	noncoding	Benign
15	52135852	A	AACACACAC	C52135895A	GNB5	NM_016194.4(GNB5):c.628-138GT[25]	noncoding	Benign
15	52135852	A	AACACAC	C52135895A	GNB5	NM_016194.4(GNB5):c.628-138GT[24]	noncoding	Benign
15	52135852	A	AACAC	C52135895A	GNB5	NM_016194.4(GNB5):c.628-138GT[23]	noncoding	Benign
15	52135852	A	AAC	C52135895A	GNB5	NM_016194.4(GNB5):c.628-138GT[22]	noncoding	Benign
15	52140933	CTCAACACTA	C	T52140934C	GNB5	NM_016194.4(GNB5):c.627+198_627+206del	noncoding	Benign
15	52153671	CAT	C	A52153672T	GNB5	NM_016194.4(GNB5):c.375+267_375+268del	noncoding	Benign
15	52154052	TC	T	C52154054A	GNB5	NM_016194.4(GNB5):c.262del:p.Glu88fs	coding	Pathogenic
15	52179498	GA	G	A52179499T	GNB5	NM_016194.4(GNB5):c.238+269del	noncoding	Benign
15	52336886	GAGGACTGACTAGGCAAAAATAAATTTTGATGAATGCACAAAAAGGTTTGTGGAAAGAATGGTTGAACTTAGGTAGGAACTGACACTCCCCATGTGTGAAGCACTGTCTCTATGAGAGCCACCCTATGAAATTCTAAAATTAGCCCTGAAACTTAAGAATAGTTCAGAAGTTTTGGGAATTAAAAGATAAGTTGAAAAAAATAATCACAAAGAACAGGATAAAGAGTGGTCTGCTTACCTAGGACCAAAGTGGCAAGTGGCATAAGGCATCTATAAAATCTTGCAGGTGATATAATTTTGCTTATACAGAAGAAAGGGGTATTTATGAATGCTTTATGCAAAAACAGAAACAAAAGCAGTACACTTAAGGAGGAAGGTAAAAAAAAGTCCATGATTATTGGCTATTTAATAAAGAATTTGCTCAAATGACAGACATGGTTAAAAACTCAATCAAAAAGAAAGTGGACAACAGTAGGCTCAGTAACAGCTTAGAAGGGCTATGAGTCAGCAATGTGTGTGGTCTGTTATTCAGGTTATGGAGAAGAAAGGCATTCCAAATACAAATATTCATTTTCCAGTTTAGACAGGAGTAGATTTAGCTACTAGGCCAACCATTAAAGGGAACAGTTGCTATCTCTTCAAAGTGTTAAGTTGTACTTCTTGGATTTTACGTGACCTTTCAAATCACATTTTGCTTCCATCACACTGTAAGCCTAGTGTTAATAACAAACCAAACGTGACAATGGACTCAGGACACTGACAGAGGTGACACCACTGGCTAAAAGACAGCTGTGGGGAGAAACAGGTTTCGTGAAAATTTTGAAGAGACTTCCTGGGAGGGGGCAGGCAGCAGTGTGCTCTTCAGTTACAGAGGGCTATAAGTAGCAAGGGAAGACAGCAGAAAAGCACTATGGTTTTACATACAATCATCCGTTTGTAAAGGGAAATCCGATATGATTGATACTTCTTAGGGTCATCTGCATATAATTCCTCAAAATACTGAAAAAACAGGCACAATGGATATTTGTTTTTGTCTGTGTGTTTGAGGGAAATGCTATCTTTCAGCAAAATCAATTTTAAAATATTTTAAAATACAAATAGTGAAACTATATATACTTGAAAGGCTCTGATTTGTCACCTTCCATTACCCTTTTATCTTTCTAGTATAGATTATTCTAATTACATATGTACAGATGTTTCTTGTGTGAACAAAGGAAAGAGGCTGTGGCCAGGATGCCATCACTTAGCAGGCCCAGATAAGGCTGTCATTTCCCTCCTCCAACCTCCTGCCTTTTTACTCCCAGCCTCCCCAACACATGATGCTCACAACTTGCTGCACTTTTTTTTTTTTTTTTTTGCCGCCAGCAGCAGTGGCAAGAATAGGGGAGGTAAATATAATAAAAGTGAGAATAATAGCAATGTTAGCTTGTGAAGCTGGAGAGGCTGGTGGGAAGCTGTGCATCTTCCTTCGCTGAAAGACAGCACGGGGGAGGCCTGTGAAGCCTGTTCACTAGATGAGGTAGAAAAATCATTTTTGTGTTTTGTGTTGGTGGTAGGTAGGTGGGCAAGGTAGAGTTTCAAGAGCACTAAGCCCAGGTCTCCTGCTGGGCTTTAATATCCTACTCAAGTGTTTCTTATAGAAATGCACAATTAAGATTGAGAAAACAATGATTTTGAAAAAGTCTATCATTTCCTGTACTTATGTTTGAATCCATCCTCCTGAATTAGTAGTCAGTGTGATGGCAGGAGAAGCAGCTGACCTACAAAAGGTTTTCCCCAAACTCAAATTCATTAACTGGGCTCTATTAGCTTAGAATATAGGGGCTTAGTCTATTTTTTGTATTAGCTATGAAAAATTGCCAAAAAAATTAATATTGCAAACAAGGTTGCAAGAGAAATGTCTGACCAACTTAGTGAAAAAACCCTGGAAATCTGCCACCCAGAAGCATCTTTATTTCACGATTTCACCTTGTATTTTAAAACAATAATTTAAAGCACAGAACTTGTATGCCAATCAATCAACTTATTATATTATTCAGTATATTTGGTAATACTTAGTCATCAAAGCATTGTTAGTTTAATTTAAGCAACAGTATACTTGAGCTTTGTAAAATAACACTTCAAAAAATATTTCATGATTCAGAAAATTTTCCCCACAAATTAGTGAGATGTCAATCACTTTGGAAAGAGCCCACACACTGCCCCCACCCTCCTCCCTCATTCCCATGGTGGAGCCTCATACAGACAGACTGTGAAAAAGAATACCTTTGCGTTTTGCTTCTAATTCATATAAAAGATGGTTGAATAAATGACACTAGAAAACTGTTTGTAATGTAAATTATCACAAATGGAGTAATGGAGGGATAATTCAGATTGTTAAATCTTCAGAGAAAATTCATACTATTTTATTATAGGTCATTAAAAATGTTAATTTAAAAAA	G	A52336887G	MYO5A	NM_001382347.1(MYO5A):c.4239+871_4315-331del	noncoding	Pathogenic
15	52342901	G	GT	G52342903T	MYO5A	NM_001382347.1(MYO5A):c.4040+215dup	noncoding	Benign
15	52348793	T	TA	G52348807A	MYO5A	NM_001382347.1(MYO5A):c.3858+12dup	noncoding	Benign
15	52348923	T	TAA	G52348928A	MYO5A	NM_001382347.1(MYO5A):c.3850-101_3850-100dup	noncoding	Benign
15	52364534	AAC	A	C52364536A	MYO5A	NM_001382347.1(MYO5A):c.3309+18_3309+19del	noncoding	Benign
15	52369869	CT	C	T52369892A	MYO5A	NM_001382347.1(MYO5A):c.3066+299del	noncoding	Benign
15	52371878	G	GTAA	C52371924T	MYO5A	NM_001382347.1(MYO5A):c.2817+201TTA[16]	noncoding	Benign
15	52371878	GTAA	G	T52371921C	MYO5A	NM_001382347.1(MYO5A):c.2817+201TTA[14]	noncoding	Benign
15	52389375	GA	G	A52389381G	MYO5A	NM_001382347.1(MYO5A):c.1543-13del	noncoding	Benign
15	52396613	GT	G	T52396623C	MYO5A	NM_001382347.1(MYO5A):c.1320-217del	noncoding	Benign
15	52405051	TCACA	T	C52405086A	MYO5A	NM_001382347.1(MYO5A):c.1053+198TG[17]	noncoding	Benign
15	52405051	TCA	T	C52405088A	MYO5A	NM_001382347.1(MYO5A):c.1053+198TG[18]	noncoding	Benign
15	52405051	T	TCACA	A52405090C	MYO5A	NM_001382347.1(MYO5A):c.1053+198TG[21]	noncoding	Benign
15	52405244	CAT	C	T52405246A	MYO5A	NM_001382347.1(MYO5A):c.1053+41_1053+42del	noncoding	Benign
15	52407557	AAAATT	A	T52407562A	MYO5A	NM_001382347.1(MYO5A):c.839-163_839-159del	noncoding	Benign
15	53613623	GA	G	A53613633T	WDR72	NM_182758.4(WDR72):c.2872+42del	noncoding	Benign
15	53613946	C	CTTAT	T53613961A	WDR72	NM_182758.4(WDR72):c.2781-201ATAA[4]	noncoding	Benign
15	53705470	AT	A	T53705480G	WDR72	NM_182758.4(WDR72):c.1103-238del	noncoding	Benign
15	53711424	ACTGCC	A	T53711426A	WDR72	NM_182758.4(WDR72):c.764_768del:p.Gly255fs	coding	Pathogenic/Likely_pathogenic
15	53712605	C	CA	C53712617A	WDR72	NM_182758.4(WDR72):c.711+156dup	noncoding	Benign
15	53714181	C	CTGTGTG	A53714205G	WDR72	NM_182758.4(WDR72):c.591+231CA[14]	noncoding	Benign
15	53714181	CTGTG	C	G53714201A	WDR72	NM_182758.4(WDR72):c.591+231CA[9]	noncoding	Benign
15	53715660	AAAC	A	A53715671G	WDR72	NM_182758.4(WDR72):c.340-305GTT[3]	noncoding	Benign
15	53716769	A	AGTGCTGCACTTAAGT	C53716771T	WDR72	NM_182758.4(WDR72):c.261-85_261-84insCACTTAAGTGCAGCA	noncoding	Benign
15	55223954	CTT	C	T55223955G	RAB27A	NM_183235.3(RAB27A):c.400_401del:p.Lys134fs	coding	Pathogenic/Likely_pathogenic
15	55228616	GT	G	T55228619C	RAB27A	NM_183235.3(RAB27A):c.335del:p.Asn112fs	coding	Pathogenic
15	55434909	G	GAAGAATCTTCAGCCCAGCTACTCAGGAGGCTGAGGCTGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A55434921G	DNAAF4	NM_130810.4(DNAAF4):c.1042_1043insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGCTGAAGATTCTT:p.Ser348delinsPhePhePhePhePhePhePheXaaXaaXaaXaaCysAsnLeuCysLeuProGlyTer	coding	Pathogenic
15	55435288	AG	A	G55435291C	DNAAF4	NM_130810.4(DNAAF4):c.894-231del	noncoding	Benign
15	55466678	CA	C	A55466682G	DNAAF4	NM_130810.4(DNAAF4):c.637+251del	noncoding	Benign
15	55467043	AT	A	T55467052G	DNAAF4	NM_130810.4(DNAAF4):c.523del:p.Ile175fs	coding	Pathogenic/Likely_pathogenic
15	55491573	TC	T	C55491574T	DNAAF4	NM_130810.4(DNAAF4):c.272-318del	noncoding	Benign
15	55497595	TA	T	A55497607T	DNAAF4	NM_130810.4(DNAAF4):c.271+116del	noncoding	Benign
15	55498593	GAAA	G	A55498611G	DNAAF4	NM_130810.4(DNAAF4):c.-255-12_-255-10del	noncoding	Benign
15	55498593	GA	G	A55498613G	DNAAF4	NM_130810.4(DNAAF4):c.-255-10del	noncoding	Benign
15	55498593	G	GAAAA	G55498614A	DNAAF4	NM_130810.4(DNAAF4):c.-255-29_-255-26dup	noncoding	Benign
15	55498593	G	GAAA	G55498614A	DNAAF4	NM_130810.4(DNAAF4):c.-255-29_-255-27dup	noncoding	Benign
15	55498593	G	GAA	G55498614A	DNAAF4	NM_130810.4(DNAAF4):c.-255-29_-255-28dup	noncoding	Benign
15	57063806	TC	T	C57063808T	TCF12	NM_207037.2(TCF12):c.207del:p.Tyr70fs	coding	Pathogenic
15	57192210	CT	C	T57192212C	TCF12	NM_207037.2(TCF12):c.445del:p.Ser149fs	coding	Pathogenic
15	57219720	C	CT	G57219739T	TCF12	NM_207037.2(TCF12):c.580-11414dup	noncoding	Benign
15	57219720	CT	C	T57219738G	TCF12	NM_207037.2(TCF12):c.580-11414del	noncoding	Benign
15	57230954	T	TAA	C57230967A	TCF12	NM_207037.2(TCF12):c.580-187_580-186dup	noncoding	Benign
15	57230954	T	TA	C57230967A	TCF12	NM_207037.2(TCF12):c.580-186dup	noncoding	Benign
15	57231164	T	TC	A57231169C	TCF12	NM_207037.2(TCF12):c.596dup:p.Asn200fs	coding	Pathogenic
15	57231232	G	GT	C57231235T	TCF12	NM_207037.2(TCF12):c.662dup:p.Ala222fs	coding	Pathogenic
15	57231365	AT	A	T57231373G	TCF12	NM_207037.2(TCF12):c.685+116del	noncoding	Benign
15	57232312	ACCT	CCC	A57232312C	TCF12	NM_207037.2(TCF12):c.707_710delinsCCC:p.Asp236fs	coding	Pathogenic
15	57251159	A	AT	A57251168T	TCF12	NM_207037.2(TCF12):c.1115-183dup	noncoding	Benign
15	57253269	G	GA	T57253272A	TCF12	NM_207037.2(TCF12):c.1270dup:p.Met424fs	coding	Pathogenic
15	57262153	T	TA	C57262155A	TCF12	NM_207037.2(TCF12):c.1528dup:p.Thr510fs	coding	Pathogenic
15	57263040	T	TTTTA	G57263047T	TCF12	NM_207037.2(TCF12):c.1583-69_1583-66dup	noncoding	Benign
15	57263167	CAAAGA	C	A57263172G	TCF12	NM_207037.2(TCF12):c.1643_1647del:p.Glu548fs	coding	Pathogenic
15	57263231	TCCTCCCAAA	T	C57263232A	TCF12	NM_207037.2(TCF12):c.1703_1711del:p.Ser568_Lys571delinsTer	coding	Pathogenic
15	57273119	T	TA	C57273121A	TCF12	NM_207037.2(TCF12):c.1836dup:p.Arg613fs	coding	Pathogenic
15	59163361	GT	G	T59163371C	MYO1E	NM_004998.4(MYO1E):c.2481-59del	noncoding	Benign
15	59173443	G	GACAA	A59173453C	MYO1E	NM_004998.4(MYO1E):c.2334+295TTGT[3]	noncoding	Benign
15	59173692	T	TA	T59173700A	MYO1E	NM_004998.4(MYO1E):c.2334+47dup	noncoding	Benign
15	59202421	AAG	A	G59202425A	MYO1E	NM_004998.4(MYO1E):c.1617-16_1617-15del	noncoding	Benign/Likely_benign
15	59205509	G	GAATTTCATTGAACAAAATGT	A59205534T	MYO1E	NM_004998.4(MYO1E):c.1531-44_1531-25dup	noncoding	Benign
15	59210321	CAT	C	A59210322G	MYO1E	NM_004998.4(MYO1E):c.1362+191_1362+192del	noncoding	Benign
15	59210885	C	CA	T59210893A	MYO1E	NM_004998.4(MYO1E):c.1276-292dup	noncoding	Benign
15	59214318	G	GA	G59214328A	MYO1E	NM_004998.4(MYO1E):c.1189-13dup	noncoding	Benign
15	59223315	GA	G	A59223331G	MYO1E	NM_004998.4(MYO1E):c.778-125del	noncoding	Benign
15	59223315	G	GA	G59223332A	MYO1E	NM_004998.4(MYO1E):c.778-140dup	noncoding	Benign
15	59236680	AAGAC	A	G59236686A	MYO1E	NM_004998.4(MYO1E):c.333-12_333-9del	noncoding	Benign/Likely_benign
15	60514685	GATCA	G	T60514691A	RORA	NM_134261.3(RORA):c.351_354del:p.Asp118fs	coding	Pathogenic
15	61856531	TA	T	A61856541C	VPS13C	NM_020821.3(VPS13C):c.10953-123del	noncoding	Benign
15	61856603	A	AC	A61856604C	VPS13C	NM_020821.3(VPS13C):c.10953-195_10953-194insG	noncoding	Benign
15	61868444	CA	C	A61868452G	VPS13C	NM_020821.3(VPS13C):c.10863+214del	noncoding	Benign
15	61868477	AT	A	T61868478C	VPS13C	NM_020821.3(VPS13C):c.10863+181del	noncoding	Benign
15	61907049	A	AT	A61907056T	VPS13C	NM_020821.3(VPS13C):c.9105+209dup	noncoding	Benign
15	61909134	GA	G	A61909145G	VPS13C	NM_020821.3(VPS13C):c.8845-10del	noncoding	Benign
15	61909134	G	GA	G61909146A	VPS13C	NM_020821.3(VPS13C):c.8845-10dup	noncoding	Benign
15	61913626	AGTTCTG	A	G61913627A	VPS13C	NM_020821.3(VPS13C):c.8446-217_8446-212del	noncoding	Benign
15	61918266	C	CA	T61918276A	VPS13C	NM_020821.3(VPS13C):c.7639-10dup	noncoding	Benign
15	61919403	AGGTCT	A	T61919406C	VPS13C	NM_020821.3(VPS13C):c.7519_7523del:p.Arg2507fs	coding	Pathogenic
15	61920048	GA	G	A61920052C	VPS13C	NM_020821.3(VPS13C):c.7477+18del	noncoding	Benign
15	61934244	A	ATCAT	A61934246C	VPS13C	NM_020821.3(VPS13C):c.5842_5843insATGA:p.Ile1948fs	coding	Pathogenic
15	61946648	C	CA	C61946660A	VPS13C	NM_020821.3(VPS13C):c.4877-249dup	noncoding	Benign
15	61950555	C	CA	C61950568A	VPS13C	NM_020821.3(VPS13C):c.4537-150dup	noncoding	Benign
15	61950891	A	AATAT	A61950897T	VPS13C	NM_020821.3(VPS13C):c.4536+50AT[4]	noncoding	Benign
15	61951042	C	CA	G61951046A	VPS13C	NM_020821.3(VPS13C):c.4457-19dup	noncoding	Benign
15	61958733	TA	T	A61958743C	VPS13C	NM_020821.3(VPS13C):c.4057-18del	noncoding	Benign
15	61958733	T	TA	C61958744A	VPS13C	NM_020821.3(VPS13C):c.4057-18dup	noncoding	Benign
15	61961549	GAATAT	G	A61961555T	VPS13C	NM_020821.3(VPS13C):c.3908+35_3908+39del	noncoding	Benign
15	61964716	TT	A	T61964716A	VPS13C	NM_020821.3(VPS13C):c.3196_3197delinsT:p.Asn1066fs	coding	Pathogenic
15	61967465	G	GA	G61967474A	VPS13C	NM_020821.3(VPS13C):c.2912-19dup	noncoding	Benign
15	61972610	C	CA	G61972617A	VPS13C	NM_020821.3(VPS13C):c.2757+14dup	noncoding	Benign
15	61972820	A	AT	A61972821T	VPS13C	NM_020821.3(VPS13C):c.2618-57_2618-56insA	noncoding	Benign
15	61982584	ATT	A	T61982590A	VPS13C	NM_020821.3(VPS13C):c.1915-13_1915-12del	noncoding	Benign
15	61991888	C	CT	A61991902T	VPS13C	NM_020821.3(VPS13C):c.1354-99dup	noncoding	Benign
15	62012221	GACACAC	G	C62012253A	VPS13C	NM_020821.3(VPS13C):c.826-93GT[15]	noncoding	Benign
15	62012221	GACAC	G	C62012255A	VPS13C	NM_020821.3(VPS13C):c.826-93GT[16]	noncoding	Benign
15	62012221	G	GAC	A62012259C	VPS13C	NM_020821.3(VPS13C):c.826-93GT[19]	noncoding	Benign
15	62012221	G	GACAC	A62012259C	VPS13C	NM_020821.3(VPS13C):c.826-93GT[20]	noncoding	Benign
15	62012221	G	GACACAC	A62012259C	VPS13C	NM_020821.3(VPS13C):c.826-93GT[21]	noncoding	Benign
15	62012221	G	GACACACACAC	A62012259C	VPS13C	NM_020821.3(VPS13C):c.826-93GT[23]	noncoding	Benign
15	62044198	T	TA	C62044207A	VPS13C	NM_020821.3(VPS13C):c.144+13dup	noncoding	Benign
15	63043127	T	TTTG	A63043129T	TPM1	NM_001018005.2(TPM1):c.114+185_114+186insTGT	noncoding	Benign
15	63048790	C	CG	C63048791G	TPM1	NM_001018005.2(TPM1):c.240+4638_240+4639insG	noncoding	Benign
15	63048791	C	CG	C63048793G	TPM1	NM_001018005.2(TPM1):c.240+4640dup	noncoding	Benign
15	63057181	TC	T	C63057183T	TPM1	NM_001018005.2(TPM1):c.374+65del	noncoding	Benign
15	63064240	C	CA	C63064242A	TPM1	NM_001018005.2(TPM1):c.851+99dup	noncoding	Benign/Likely_benign
15	63065833	C	CT	C63065848T	TPM1	NM_001018005.2(TPM1):c.852-49dup	noncoding	Benign
15	63065833	CT	C	T63065847C	TPM1	NM_001018005.2(TPM1):c.852-49del	noncoding	Benign
15	63065929	C	CATTTT	C63065930A	TPM1	NM_001018005.2(TPM1):c.*30_*31insATTTT	coding	Benign
15	63071202	C	CATTTT	G63071203A	TPM1	NM_000366.2(TPM1):c.*30_*36insATTTT	noncoding	Benign
15	63071202	C	CATTTTGTTTT	G63071203A	TPM1	NM_000366.2(TPM1):c.*30_*36insATTTTGTTTT	noncoding	Benign
15	63327500	G	GT	A63327517T	CA12	NM_001218.5(CA12):c.908-283dup	noncoding	Benign
15	63339266	T	TC	A63339269C	CA12	NM_001218.5(CA12):c.748-323dup	noncoding	Benign
15	63339269	A	AT	C63339270T	CA12	NM_001218.5(CA12):c.748-325_748-324insA	noncoding	Benign
15	63339270	CAGAG	C	G63339272C	CA12	NM_001218.5(CA12):c.748-329_748-326del	noncoding	Benign
15	63616250	C	CTCTA	T63616256C	HERC1	NM_003922.4(HERC1):c.13941+176_13941+179dup	noncoding	Benign
15	63625693	C	CA	G63625711A	HERC1	NM_003922.4(HERC1):c.13275+275dup	noncoding	Benign
15	63628953	CT	C	T63628968G	HERC1	NM_003922.4(HERC1):c.12967-139del	noncoding	Benign
15	63636273	G	GT	A63636290T	HERC1	NM_003922.4(HERC1):c.12233-147dup	noncoding	Benign
15	63636273	GT	G	T63636289A	HERC1	NM_003922.4(HERC1):c.12233-132del	noncoding	Benign
15	63637400	GAT	G	A63637403G	HERC1	NM_003922.4(HERC1):c.12232+103_12232+104del	noncoding	Benign
15	63639985	T	TG	C63639987G	HERC1	NM_003922.4(HERC1):c.11901+166dup	noncoding	Benign
15	63645701	G	GA	T63645710A	HERC1	NM_003922.4(HERC1):c.10879-20dup	noncoding	Benign
15	63649707	G	GT	A63649709T	HERC1	NM_003922.4(HERC1):c.10747+17dup	noncoding	Benign
15	63655528	GT	G	T63655530A	HERC1	NM_003922.4(HERC1):c.10084+213del	noncoding	Benign
15	63660874	A	AAC	G63660889A	HERC1	NM_003922.4(HERC1):c.9223+85GT[8]	noncoding	Benign
15	63662842	TA	T	A63662844C	HERC1	NM_003922.4(HERC1):c.8901+141del	noncoding	Benign
15	63672703	C	CA	G63672712A	HERC1	NM_003922.4(HERC1):c.7847-10dup	noncoding	Benign
15	63674314	C	CA	T63674329A	HERC1	NM_003922.4(HERC1):c.7846+14dup	noncoding	Benign
15	63695025	A	AG	T63695026G	HERC1	NM_003922.4(HERC1):c.5122-132_5122-131insC	noncoding	Benign
15	63706715	CTT	C	T63706727G	HERC1	NM_003922.4(HERC1):c.4636+63_4636+64del	noncoding	Benign
15	63712910	C	CAA	G63712921A	HERC1	NM_003922.4(HERC1):c.4464-25_4464-24dup	noncoding	Benign/Likely_benign
15	63712910	C	CA	G63712921A	HERC1	NM_003922.4(HERC1):c.4464-25dup	noncoding	Benign/Likely_benign
15	63727559	T	TA	G63727561A	HERC1	NM_003922.4(HERC1):c.3346+87dup	noncoding	Benign
15	63728938	T	TAA	T63728939A	HERC1	NM_003922.4(HERC1):c.3154+297_3154+298insTT	noncoding	Benign
15	63728939	T	TAA	G63728955A	HERC1	NM_003922.4(HERC1):c.3154+282_3154+283dup	noncoding	Benign
15	63728963	T	TA	T63728970A	HERC1	NM_003922.4(HERC1):c.3154+267dup	noncoding	Benign
15	63729376	GA	G	A63729383G	HERC1	NM_003922.4(HERC1):c.3022-9del	noncoding	Benign
15	63729482	C	CA	T63729486A	HERC1	NM_003922.4(HERC1):c.3021+14dup	noncoding	Benign
15	63756268	CA	C	A63756270T	HERC1	NM_003922.4(HERC1):c.1533+168del	noncoding	Benign
15	64155818	A	AT	A64155821T	PPIB	NM_000942.5(PPIB):c.*204dup	noncoding	Benign/Likely_benign
15	64394018	CA	C	A64394024G	TRIP4	NM_016213.5(TRIP4):c.180del:p.Gly61fs	coding	Pathogenic
15	64395105	C	CA	G64395109A	TRIP4	NM_016213.5(TRIP4):c.272-290dup	noncoding	Benign
15	64395457	AACAG	A	A64395462G	TRIP4	NM_016213.5(TRIP4):c.336_339del:p.Gln113fs	coding	Pathogenic
15	64400473	CT	C	T64400489C	TRIP4	NM_016213.5(TRIP4):c.619-254del	noncoding	Benign
15	64400950	G	GT	G64400959T	TRIP4	NM_016213.5(TRIP4):c.697+137dup	noncoding	Benign
15	64406410	GA	G	A64406411G	TRIP4	NM_016213.5(TRIP4):c.779del:p.Glu260fs	coding	Pathogenic
15	64425646	C	CT	A64425658T	TRIP4	NM_016213.5(TRIP4):c.1575+26dup	noncoding	Benign
15	64444746	C	CT	A64444767T	TRIP4	NM_016213.5(TRIP4):c.1576-240dup	noncoding	Benign
15	64444746	C	CTT	A64444767T	TRIP4	NM_016213.5(TRIP4):c.1576-241_1576-240dup	noncoding	Benign
15	64970187	AT	A	T64970194G	SPG21	NM_016630.7(SPG21):c.487del:p.Lys162_Ile163insTer	coding	Pathogenic
15	64974707	TGG	T	G64974709C	SPG21	NM_016630.7(SPG21):c.345_346del:p.Gln116fs	coding	Pathogenic
15	64980737	CAACA	C	A64980769T	SPG21	NM_016630.7(SPG21):c.225+95TGTT[7]	noncoding	Benign
15	64980737	C	CAACA	T64980773A	SPG21	NM_016630.7(SPG21):c.225+95TGTT[9]	noncoding	Benign
15	64980935	CA	C	A64980936G	SPG21	NM_016630.7(SPG21):c.153del:p.Val52fs	coding	Pathogenic/Likely_pathogenic
15	64981289	C	CT	G64981308T	SPG21	NM_016630.7(SPG21):c.64-282dup	noncoding	Benign
15	64983271	T	TATAA	A64983293T	SPG21	NM_016630.7(SPG21):c.63+216TTAT[6]	noncoding	Benign
15	65002962	C	CA	G65002985A	MTFMT	NM_139242.4(MTFMT):c.*99dup	noncoding	Benign
15	65006095	CT	C	T65006096A	MTFMT	NM_139242.4(MTFMT):c.892+17del	noncoding	Benign
15	65020224	GCCTT	G	T65020227A	MTFMT	NM_139242.4(MTFMT):c.690_693del:p.Arg231fs	coding	Pathogenic
15	65020395	TA	T	A65020405T	MTFMT	NM_139242.4(MTFMT):c.646-124del	noncoding	Benign
15	65029590	A	ACAGCGCCGCAC	A65029604G	MTFMT	NM_139242.4(MTFMT):c.13_23dup:p.Cys8fs	coding	Pathogenic
15	65624213	C	CG	C65624218G	SLC24A1	NM_004727.3(SLC24A1):c.137dup:p.Leu47fs	coding	Pathogenic
15	65624241	TCTCTTCTC	T	C65624242A	SLC24A1	NM_004727.3(SLC24A1):c.162_169del:p.Ser56fs	coding	Pathogenic
15	65624909	G	GA	C65624917A	SLC24A1	NM_004727.3(SLC24A1):c.836dup:p.Asn279fs	coding	Pathogenic
15	65625399	AC	A	C65625405A	SLC24A1	NM_004727.3(SLC24A1):c.1325del:p.Pro442fs	coding	Pathogenic
15	65625691	CTT	C	T65625693G	SLC24A1	NM_004727.3(SLC24A1):c.1613_1614del:p.Phe538fs	coding	Pathogenic
15	65639570	A	ACTGAGGC	T65639574A	SLC24A1	NM_004727.3(SLC24A1):c.1945-22_1945-21insAGGCCTG	noncoding	Benign
15	65879662	TC	T	C65879666T	RAB11A	NM_004663.5(RAB11A):c.431-5del	noncoding	Benign
15	66387511	CT	C	T66387512G	MAP2K1	NM_002755.4(MAP2K1):c.80+85del	noncoding	Benign
15	66387512	TG	T	G66387514T	MAP2K1	NM_002755.4(MAP2K1):c.80+87del	noncoding	Benign
15	66387619	TC	T	C66387622G	MAP2K1	NM_002755.4(MAP2K1):c.80+195del	noncoding	Benign
15	66435117	GCAGAAGGTGGGAGAA	G	A66435119T	MAP2K1	NM_002755.4(MAP2K1):c.173_187del:p.Gln58_Glu62del	coding	Pathogenic
15	66435351	A	ATT	A66435367T	MAP2K1	NM_002755.4(MAP2K1):c.291+128_291+129dup	noncoding	Benign
15	66435351	A	ATTT	A66435367T	MAP2K1	NM_002755.4(MAP2K1):c.291+127_291+129dup	noncoding	Benign
15	66436755	CTGGAGA	C	G66436757C	MAP2K1	NM_002755.4(MAP2K1):c.303_308del:p.Glu102_Ile103del	coding	Pathogenic
15	66703260	T	TG	T66703262G	SMAD6	NM_005585.5(SMAD6):c.3dup:p.Phe2fs	coding	Pathogenic
15	66703278	CG	C	G66703282C	SMAD6	NM_005585.5(SMAD6):c.24del:p.Leu9fs	coding	Pathogenic
15	66703322	CG	C	G66703325A	SMAD6	NM_005585.5(SMAD6):c.67del:p.Glu23fs	coding	Pathogenic
15	66703392	CG	C	G66703394C	SMAD6	NM_005585.5(SMAD6):c.136del:p.Ala46fs	coding	Pathogenic
15	66703483	AGGCGCCCAGGGCGCGGGGAGGCGCC	A	C66703489G	SMAD6	NM_005585.5(SMAD6):c.231_255del:p.Gly81fs	coding	Pathogenic
15	66703497	CG	C	G66703501A	SMAD6	NM_005585.5(SMAD6):c.243del:p.Arg82fs	coding	Pathogenic
15	66703516	AG	A	G66703521C	SMAD6	NM_005585.5(SMAD6):c.263del:p.Gly88fs	coding	Pathogenic
15	66703539	CG	C	G66703541A	SMAD6	NM_005585.5(SMAD6):c.283del:p.Glu95fs	coding	Pathogenic
15	66703550	GC	G	C66703552G	SMAD6	NM_005585.5(SMAD6):c.294del:p.Gly99fs	coding	Pathogenic
15	66703581	CG	C	G66703583A	SMAD6	NM_005585.5(SMAD6):c.325del:p.Glu109fs	coding	Pathogenic
15	66703642	CTT	C	T66703645C	SMAD6	NM_005585.5(SMAD6):c.387_388del:p.Ser130fs	coding	Pathogenic
15	66703696	C	CGGGGCGGCCCTGGAGCCGG	C66703716G	SMAD6	NM_005585.5(SMAD6):c.439_457dup:p.Ala153fs	coding	Pathogenic
15	66704032	CG	C	G66704033T	SMAD6	NM_005585.5(SMAD6):c.775del:p.Val259fs	coding	Pathogenic
15	66711721	CT	C	T66711722G	SMAD6	NM_005585.5(SMAD6):c.872del:p.Leu291fs	coding	Pathogenic
15	66716505	AT	A	T66716511C	SMAD6	NM_005585.5(SMAD6):c.952+13del	noncoding	Benign
15	66781001	C	CGCAA	A66781002G	SMAD6	NM_005585.5(SMAD6):c.957_958insGCAA:p.Ser320fs	coding	Pathogenic
15	66781053	TG	T	G66781056A	SMAD6	NM_005585.5(SMAD6):c.1012del:p.Glu338fs	coding	Pathogenic
15	66781142	C	CT	G66781144T	SMAD6	NM_005585.5(SMAD6):c.1099dup:p.Cys367fs	coding	Pathogenic
15	66781267	AC	A	C66781271A	SMAD6	NM_005585.5(SMAD6):c.1227del:p.Ile410fs	coding	Pathogenic
15	66781347	T	TC	A66781350C	SMAD6	NM_005585.5(SMAD6):c.1305dup:p.Ile436fs	coding	Pathogenic
15	66781458	TG	T	G66781463C	SMAD6	NM_005585.5(SMAD6):c.1419del:p.Cys475fs	coding	Pathogenic
15	67066178	T	TC	G67066184C	SMAD3	NM_005902.4(SMAD3):c.29dup:p.Ile11fs	coding	Pathogenic
15	67066218	G	GAGCAGAA	C67066226A	SMAD3	NM_005902.4(SMAD3):c.65_71dup:p.Asn24fs	coding	Pathogenic
15	67066262	GA	G	A67066263G	SMAD3	NM_005902.4(SMAD3):c.109del:p.Ser37fs	coding	Pathogenic
15	67165142	T	TC	G67165147C	SMAD3	NM_005902.4(SMAD3):c.400+58dup	noncoding	Benign
15	67165294	GCCGAGTTCCCC	G	G67165297A	SMAD3	NM_005902.4(SMAD3):c.445_455del:p.Glu149fs	coding	Pathogenic/Likely_pathogenic
15	67180972	C	CTAAA	A67181009T	SMAD3	NM_005902.4(SMAD3):c.659-268TAAA[10]	noncoding	Benign
15	67180972	C	CTAAATAAA	A67181009T	SMAD3	NM_005902.4(SMAD3):c.659-268TAAA[11]	noncoding	Benign
15	67180972	CTAAA	C	T67181005A	SMAD3	NM_005902.4(SMAD3):c.659-268TAAA[8]	noncoding	Benign
15	67180972	CTAAATAAA	C	T67181001A	SMAD3	NM_005902.4(SMAD3):c.659-268TAAA[7]	noncoding	Benign
15	67181325	TC	T	C67181327A	SMAD3	NM_005902.4(SMAD3):c.745del:p.His249fs	coding	Pathogenic
15	67181443	G	GAGACACAT	C67181452A	SMAD3	NM_005902.4(SMAD3):c.862_869dup:p.Gly291fs	coding	Pathogenic
15	67184792	AT	A	T67184797G	SMAD3	NM_005902.4(SMAD3):c.942del:p.Phe314fs	coding	Pathogenic/Likely_pathogenic
15	67184842	CA	C	A67184843C	SMAD3	NM_005902.4(SMAD3):c.988del:p.Thr330fs	coding	Pathogenic
15	67184862	CA	C	A67184863G	SMAD3	NM_005902.4(SMAD3):c.1008del:p.Gly337fs	coding	Pathogenic
15	67187440	C	CTGTCTACCAGTTG	A67187454T	SMAD3	NM_005902.4(SMAD3):c.1086_1098dup:p.Thr367fs	coding	Pathogenic/Likely_pathogenic
15	67187507	C	CA	G67187509A	SMAD3	NM_005902.4(SMAD3):c.1153dup:p.Arg385fs	coding	Pathogenic
15	67190519	T	TGTTC	C67190524G	SMAD3	NM_005902.4(SMAD3):c.1262_1265dup:p.Ser423fs	coding	Pathogenic
15	67203885	A	AT	A67203898T	AAGAB	NM_024666.5(AAGAB):c.820+147dup	noncoding	Benign
15	67208637	CT	C	T67208638G	AAGAB	NM_024666.5(AAGAB):c.639del:p.Asp214fs	coding	Pathogenic
15	67209465	TG	T	G67209468T	AAGAB	NM_024666.5(AAGAB):c.614del:p.Pro205fs	coding	Pathogenic
15	67209518	T	TGA	A67209523G	AAGAB	NM_024666.5(AAGAB):c.560_561dup:p.Asn188fs	coding	Pathogenic
15	67209529	A	AATT	G67209531T	AAGAB	NM_024666.5(AAGAB):c.550_551insAAT:p.Phe184Ter	coding	Pathogenic
15	67231842	A	ATT	G67231845T	AAGAB	NM_024666.5(AAGAB):c.505_506dup:p.Asn169fs	coding	Pathogenic
15	67231851	CA	C	A67231852G	AAGAB	NM_024666.5(AAGAB):c.497del:p.Leu166fs	coding	Pathogenic
15	67236413	TCAGA	T	G67236416C	AAGAB	NM_024666.5(AAGAB):c.352_355del:p.Ser118fs	coding	Pathogenic
15	67236424	AT	A	T67236425C	AAGAB	NM_024666.5(AAGAB):c.344del:p.Asp115fs	coding	Pathogenic
15	67236451	TAACCA	T	A67236452T	AAGAB	NM_024666.5(AAGAB):c.313_317del:p.Trp105fs	coding	Pathogenic
15	67236474	G	GC	A67236477C	AAGAB	NM_024666.5(AAGAB):c.294dup:p.Leu99fs	coding	Pathogenic
15	67236492	CA	C	A67236494G	AAGAB	NM_024666.5(AAGAB):c.276del:p.Asp93fs	coding	Pathogenic
15	67236695	ATTTG	A	T67236700G	AAGAB	NM_024666.5(AAGAB):c.195_198del:p.Lys66fs	coding	Pathogenic
15	67236719	TG	T	G67236720A	AAGAB	NM_024666.5(AAGAB):c.174del:p.Asn59fs	coding	Pathogenic
15	67236810	TC	T	C67236812A	AAGAB	NM_024666.5(AAGAB):c.83del:p.Gly28fs	coding	Pathogenic
15	67236816	GA	G	A67236817T	AAGAB	NM_024666.5(AAGAB):c.77del:p.Ile26fs	coding	Pathogenic
15	67254563	GACCAGCTGGTC	G	A67254564T	AAGAB	NM_024666.5(AAGAB):c.58_68del:p.Asp20fs	coding	Pathogenic
15	68141758	TTTG	T	G68141761T	PIAS1	NM_016166.3(PIAS1):c.470-185_470-183del	noncoding	Benign
15	68141874	T	TG	T68141875G	PIAS1	NM_016166.3(PIAS1):c.470-72_470-71insG	noncoding	Benign
15	68145923	G	GT	A68145930T	PIAS1	NM_016166.3(PIAS1):c.693+23dup	noncoding	Benign
15	68153576	C	CT	C68153586T	PIAS1	NM_016166.3(PIAS1):c.829-5dup	noncoding	Benign
15	68176672	T	TA	G68176683A	PIAS1	NM_016166.3(PIAS1):c.1481+28dup	noncoding	Benign
15	68207979	G	GACACAC	G68208000A	CLN6	NM_017882.3(CLN6):c.*141GT[13]	noncoding	Benign/Likely_benign
15	68208363	AA	GT	A68208363G	CLN6	NM_017882.3(CLN6):c.712_713delinsAC:p.Phe238Thr	coding	Pathogenic
15	68209646	AG	A	G68209648C	CLN6	NM_017882.3(CLN6):c.655del:p.Leu219fs	coding	Pathogenic
15	68209705	GGCAGTAAAGCAGCC	G	A68209708T	CLN6	NM_017882.3(CLN6):c.583_596del:p.Gly195fs	coding	Pathogenic
15	68211306	C	CA	G68211310A	CLN6	NM_017882.3(CLN6):c.498dup:p.Glu167Ter	coding	Pathogenic/Likely_pathogenic
15	68211762	GAC	G	C68211764G	CLN6	NM_017882.3(CLN6):c.397_398del:p.Val133fs	coding	Pathogenic
15	68211764	C	CA	G68211766A	CLN6	NM_017882.3(CLN6):c.396dup:p.Val133fs	coding	Pathogenic
15	68211794	CCATGATGAA	C	C68211795G	CLN6	NM_017882.3(CLN6):c.358_366del:p.Phe120_Met122del	coding	Pathogenic
15	68211865	TG	T	G68211869T	CLN6	NM_017882.3(CLN6):c.298-3del	noncoding	Benign
15	68214296	C	CAA	G68214299A	CLN6	NM_017882.3(CLN6):c.289_290dup:p.Leu97fs	coding	Pathogenic
15	68214366	A	AACC	T68214372C	CLN6	NM_017882.3(CLN6):c.218_220dup:p.Trp73dup	coding	Pathogenic
15	68214376	GA	G	A68214377G	CLN6	NM_017882.3(CLN6):c.210del:p.Leu71fs	coding	Pathogenic
15	68218537	A	AT	G68218539T	CLN6	NM_017882.3(CLN6):c.196dup:p.Met66fs	coding	Pathogenic
15	68218584	G	GAGGAT	T68218585A	CLN6	NM_017882.3(CLN6):c.149_150insATCCT:p.Tyr50Ter	coding	Pathogenic
15	68218612	GC	G	C68218614G	CLN6	NM_017882.3(CLN6):c.121del:p.Ala41fs	coding	Pathogenic
15	68229573	CGTCGCCTCCAT	C	T68229575G	CLN6	NM_017882.3(CLN6):c.1_11del:p.Met1fs	coding	Pathogenic
15	69414535	T	TGGGGGCAGGCGTCTCCACTCA	C69414559G	KIF23	NM_001367805.3(KIF23):c.11+62_11+82dup	coding	Benign
15	69435468	A	AT	C69435476T	KIF23	NM_001367805.3(KIF23):c.1115-8dup	noncoding	Benign
15	69436330	TATTTC	T	C69436335A	KIF23	NM_001367805.3(KIF23):c.1438+74_1438+78del	noncoding	Benign
15	69446906	GC	G	C69446907T	KIF23	NM_001367805.3(KIF23):c.2875del:p.Leu959fs	coding	Pathogenic
15	71215070	G	GGACGACGGC	G71215081A	THSD4	NM_024817.3(THSD4):c.137_145dup:p.Asp46_Gly48dup	coding	Pathogenic
15	71215248	G	GTGTC	G71215253T	THSD4	NM_024817.3(THSD4):c.314_317dup:p.Ala107fs	coding	Pathogenic
15	71242921	CT	C	T71242924G	THSD4	NM_024817.3(THSD4):c.740del:p.Pro246_Leu247insTer	coding	Pathogenic
15	71728590	TG	T	G71728593C	THSD4	NM_024817.3(THSD4):c.1402del:p.Ala468fs	coding	Pathogenic
15	71810778	CA	C	A71810779G	NR2E3	NM_014249.4(NR2E3):c.36del:p.Val13fs	coding	Pathogenic
15	71810793	C	CAG	G71810794A	NR2E3	NM_014249.4(NR2E3):c.50_51insAG:p.Pro18fs	coding	Pathogenic
15	71811494	T	TCGCTCCAGTGCCGCGTGTG	G71811516C	NR2E3	NM_014249.4(NR2E3):c.133_151dup:p.Gly51fs	coding	Pathogenic
15	71811506	C	CAGTGT	G71811507A	NR2E3	NM_014249.4(NR2E3):c.142_143insAGTGT:p.Arg48fs	coding	Pathogenic
15	71811550	TGCCTGCAACG	T	C71811553T	NR2E3	NM_014249.4(NR2E3):c.189_198del:p.Cys64fs	coding	Pathogenic
15	71811559	C	CTATGGCATCTA	G71811560T	NR2E3	NM_014249.4(NR2E3):c.195_196insTATGGCATCTA:p.Gly66delinsTyrGlyIleTer	coding	Pathogenic
15	71811604	C	CT	A71811606T	NR2E3	NM_014249.4(NR2E3):c.241dup:p.Tyr81fs	coding	Pathogenic
15	71812021	CTG	C	T71812022A	NR2E3	NM_014249.4(NR2E3):c.417_418del:p.Glu140fs	coding	Pathogenic
15	71812045	TGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGG	T	T71812049C	NR2E3	NM_014249.4(NR2E3):c.444_477del:p.Pro150fs	coding	Pathogenic
15	71812060	CG	C	G71812062C	NR2E3	NM_014249.4(NR2E3):c.457del:p.Ala153fs	coding	Pathogenic
15	71812403	C	CT	C71812404T	NR2E3	NM_014249.4(NR2E3):c.639_640insT:p.Pro214fs	coding	Pathogenic
15	71812494	CT	C	T71812495G	NR2E3	NM_014249.4(NR2E3):c.731del:p.Leu244fs	coding	Pathogenic
15	71813513	GC	G	C71813515G	NR2E3	NM_014249.4(NR2E3):c.874del:p.Arg292fs	coding	Pathogenic
15	71813588	AC	A	C71813592A	NR2E3	NM_014249.4(NR2E3):c.951del:p.Thr318fs	coding	Benign/Likely_benign
15	71849100	GAGACA	G	A71849103G	MYO9A	NM_006901.4(MYO9A):c.6714-137_6714-133del	noncoding	Benign
15	71849690	TATTAAGACCAAAGGATTCAGAGCC	T	A71849701C	MYO9A	NM_006901.4(MYO9A):c.6713+322_6713+345del	noncoding	Benign
15	71849939	A	ATTTATGAACCCATTCACTAT	G71849960T	MYO9A	NM_006901.4(MYO9A):c.6713+77_6713+96dup	noncoding	Benign
15	71852362	C	CT	G71852381T	MYO9A	NM_006901.4(MYO9A):c.6347-120dup	noncoding	Benign
15	71852362	CT	C	T71852380G	MYO9A	NM_006901.4(MYO9A):c.6347-103del	noncoding	Benign
15	71859883	CG	C	G71859884T	MYO9A	NM_006901.4(MYO9A):c.6092-88del	noncoding	Benign
15	71862929	C	CT	G71862946T	MYO9A	NM_006901.4(MYO9A):c.5980-334dup	noncoding	Benign
15	71862929	CT	C	T71862945G	MYO9A	NM_006901.4(MYO9A):c.5980-319del	noncoding	Benign
15	71883936	GGTTTT	G	T71883940A	MYO9A	NM_006901.4(MYO9A):c.5256-205_5256-201del	noncoding	Benign
15	71899358	TTTTAA	T	T71899364G	MYO9A	NM_006901.4(MYO9A):c.3470+324_3471-327del	noncoding	Benign
15	71900066	GAA	G	A71900072G	MYO9A	NM_006901.4(MYO9A):c.3151-62_3151-61del	noncoding	Benign
15	71951440	GT	G	T71951451A	MYO9A	NM_006901.4(MYO9A):c.2302+336del	noncoding	Benign
15	71952191	C	CA	T71952194A	MYO9A	NM_006901.4(MYO9A):c.2183-297dup	noncoding	Benign
15	71959848	TA	T	A71959863G	MYO9A	NM_006901.4(MYO9A):c.2182+52del	noncoding	Benign
15	71959848	T	TAA	G71959864A	MYO9A	NM_006901.4(MYO9A):c.2182+38_2182+39dup	noncoding	Benign
15	71959848	T	TA	G71959864A	MYO9A	NM_006901.4(MYO9A):c.2182+38dup	noncoding	Benign
15	72344117	A	AG	T72344122G	HEXA	NM_000520.6(HEXA):c.1549dup:p.Leu517fs	coding	Pathogenic/Likely_pathogenic
15	72345418	CCTTGCGAAGGCCCCACAGCTTGCTTACCT	C	T72345420A	HEXA	NM_000520.6(HEXA):c.1525_1526+27del	noncoding	Pathogenic/Likely_pathogenic
15	72345472	CA	C	A72345475C	HEXA	NM_000520.6(HEXA):c.1499del:p.Leu500fs	coding	Pathogenic/Likely_pathogenic
15	72345526	TTCGGCAACAGCCCCTGC	T	G72345529T	HEXA	NM_000520.6(HEXA):c.1429_1445del:p.Ala477fs	coding	Pathogenic
15	72345536	GC	G	C72345540T	HEXA	NM_000520.6(HEXA):c.1435del:p.Ala479fs	coding	Pathogenic
15	72346215	T	TC	G72346223C	HEXA	NM_000520.6(HEXA):c.1421+13dup	noncoding	Benign/Likely_benign
15	72346306	AG	A	G72346307C	HEXA	NM_000520.6(HEXA):c.1349del:p.Ala450fs	coding	Pathogenic
15	72346548	CTA	C	A72346550G	HEXA	NM_000520.6(HEXA):c.1307_1308del:p.Ile436fs	coding	Pathogenic/Likely_pathogenic
15	72346598	CA	C	A72346599G	HEXA	NM_000520.6(HEXA):c.1258del:p.Trp420fs	coding	Pathogenic
15	72346636	GA	G	A72346637C	HEXA	NM_000520.6(HEXA):c.1220del:p.Val407fs	coding	Pathogenic
15	72346688	TG	T	G72346689T	HEXA	NM_000520.6(HEXA):c.1168del:p.Gln390fs	coding	Pathogenic
15	72347685	CCTTTA	C	C72347691T	HEXA	NM_000520.6(HEXA):c.1142_1146del:p.Val381fs	noncoding	Pathogenic/Likely_pathogenic
15	72347717	AC	A	C72347719A	HEXA	NM_000520.6(HEXA):c.1114del:p.Val372fs	coding	Pathogenic/Likely_pathogenic
15	72348074	CTTGA	C	T72348075A	HEXA	NM_000520.6(HEXA):c.1043_1046del:p.Phe348fs	coding	Pathogenic/Likely_pathogenic
15	72349126	TG	T	G72349129A	HEXA	NM_000520.6(HEXA):c.938del:p.Pro313fs	coding	Pathogenic
15	72350579	GA	G	A72350580G	HEXA	NM_000520.6(HEXA):c.743del:p.Leu248fs	coding	Pathogenic
15	72353068	CAG	C	A72353071T	HEXA	NM_000520.6(HEXA):c.568_569del:p.Leu190fs	coding	Pathogenic
15	72353085	TAG	T	A72353090T	HEXA	NM_000520.6(HEXA):c.551_552del:p.Leu183_Ser184insTer	coding	Pathogenic/Likely_pathogenic
15	72353145	GA	G	A72353148G	HEXA	NM_000520.6(HEXA):c.492del:p.Arg166fs	coding	Pathogenic
15	72353159	TCA	T	C72353160G	HEXA	NM_000520.6(HEXA):c.477_478del:p.Glu160fs	coding	Pathogenic
15	72355572	CCAGA	C	A72355576T	HEXA	NM_000520.6(HEXA):c.395_398del:p.Val132fs	coding	Pathogenic
15	72356580	GAC	G	C72356582A	HEXA	NM_000520.6(HEXA):c.289_290del:p.Val97fs	coding	Pathogenic
15	72375712	CGACTCACCTGTGAGGTAAGGACGG	C	A72375714G	HEXA	NM_000520.6(HEXA):c.237_253+7del	noncoding	Pathogenic/Likely_pathogenic
15	72375730	AGGACGGGGCCAAGACCC	A	C72375734A	HEXA	NM_000520.6(HEXA):c.226_242del:p.Gly76fs	coding	Pathogenic
15	72375832	CT	C	T72375833G	HEXA	NM_000520.6(HEXA):c.140del:p.Gln47fs	coding	Pathogenic
15	72375854	TA	T	A72375857G	HEXA	NM_000520.6(HEXA):c.118del:p.Tyr40fs	coding	Pathogenic
15	72375911	G	GTC	G72375914T	HEXA	NM_000520.6(HEXA):c.60_61dup:p.Thr21fs	coding	Pathogenic/Likely_pathogenic
15	72375921	C	CTGCGAACGCTGCCGCCAGCAGCAGCGAAAACT	C72375953T	HEXA	NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA:p.Gly18fs	coding	Pathogenic
15	72375940	CA	C	A72375941G	HEXA	NM_000520.6(HEXA):c.32del:p.Leu11fs	coding	Pathogenic
15	72474693	TGAG	T	G72474699C	ARIH1	NM_005744.5(ARIH1):c.57GGA[1]:p.Glu20del	coding	Benign
15	72567184	GT	G	T72567188C	ARIH1	NM_005744.5(ARIH1):c.1026+11del	noncoding	Benign
15	72715350	GC	G	C72715351A	BBS4	NM_033028.5(BBS4):c.281del:p.Ala94fs	coding	Pathogenic
15	72715428	T	TA	G72715430A	BBS4	NM_033028.5(BBS4):c.332+27dup	noncoding	Benign/Likely_benign
15	72731427	GTGTTTCT	G	G72731429T	BBS4	NM_033028.5(BBS4):c.836_842del:p.Cys279fs	coding	Pathogenic
15	72731465	T	TC	T72731470C	BBS4	NM_033028.5(BBS4):c.864+12dup	noncoding	Benign
15	72731616	AT	A	T72731619G	BBS4	NM_033028.5(BBS4):c.929del:p.Leu310fs	coding	Pathogenic
15	72736824	C	CT	A72736825T	BBS4	NM_033028.5(BBS4):c.1311_1312insT:p.Lys438Ter	coding	Pathogenic
15	72736829	CAGTT	C	G72736831A	BBS4	NM_033028.5(BBS4):c.1318_1321del:p.Val440fs	coding	Pathogenic
15	73322361	GGT	G	T73322369G	HCN4	NM_005477.3(HCN4):c.*112AC[3]	noncoding	Benign
15	73324079	T	TC	T73324085C	HCN4	NM_005477.3(HCN4):c.2143+9dup	noncoding	Benign
15	74189219	AC	A	C74189223T	STRA6	NM_022369.4(STRA6):c.985del:p.Val329fs	coding	Pathogenic
15	74194169	AGAG	A	G74194176A	STRA6	NM_022369.4(STRA6):c.598-256CTC[2]	noncoding	Benign
15	74202205	G	GC	A74202208C	STRA6	NM_022369.4(STRA6):c.62dup:p.Ser22fs	coding	Pathogenic
15	74202343	GA	G	A74202352G	STRA6	NM_022369.4(STRA6):c.-15-62del	noncoding	Benign
15	74203214	TTG	T	G74203216T	STRA6	NM_001142617.2(STRA6):c.-15-934_-15-933del	coding	Benign
15	74343803	A	ACGTCCC	A74343810C	CYP11A1	NM_000781.3(CYP11A1):c.809_814dup:p.Asp271_Val272insGlyAsp	coding	Pathogenic
15	74345041	T	TA	C74345043A	CYP11A1	NM_000781.3(CYP11A1):c.625+2dup	noncoding	Pathogenic
15	74347966	CG	C	G74347967T	CYP11A1	NM_000781.3(CYP11A1):c.358del:p.Arg120fs	coding	Pathogenic
15	74367178	CAAAAA	C	A74367192G	CYP11A1	NM_000781.3(CYP11A1):c.269+134_269+138del	noncoding	Benign
15	74367178	CA	C	A74367196G	CYP11A1	NM_000781.3(CYP11A1):c.269+138del	noncoding	Benign
15	74367178	C	CA	G74367197A	CYP11A1	NM_000781.3(CYP11A1):c.269+121dup	noncoding	Benign
15	74891497	AC	A	C74891498A	MPI	NM_002435.3(MPI):c.264del:p.Asp88fs	coding	Pathogenic
15	74891567	ACACC	A	A74891569T	MPI	NM_002435.3(MPI):c.335_338del:p.His112fs	coding	Pathogenic
15	74893294	TGTTG	T	T74893297G	MPI	NM_002435.3(MPI):c.647_650del:p.Leu215_Leu216insTer	coding	Pathogenic
15	74896190	CT	C	T74896194G	MPI	NM_002435.3(MPI):c.713del:p.Leu238fs	coding	Pathogenic
15	74896225	T	TA	T74896227A	MPI	NM_002435.3(MPI):c.745dup:p.Ile249fs	coding	Pathogenic
15	74896233	GC	G	C74896234T	MPI	NM_002435.3(MPI):c.753del:p.Phe252fs	coding	Pathogenic
15	74896300	C	CG	T74896302G	MPI	NM_002435.3(MPI):c.820dup:p.Val274fs	coding	Pathogenic
15	74897045	A	AG	T74897047G	MPI	NM_002435.3(MPI):c.880dup:p.Val294fs	coding	Pathogenic/Likely_pathogenic
15	74897182	A	AC	T74897189C	MPI	NM_002435.3(MPI):c.1022dup:p.Val342fs	coding	Pathogenic
15	74897198	C	CT	C74897201T	MPI	NM_002435.3(MPI):c.1034dup:p.Thr346fs	coding	Pathogenic
15	74897519	GCT	G	C74897522G	MPI	NM_002435.3(MPI):c.1064_1065del:p.Ser355fs	coding	Pathogenic/Likely_pathogenic
15	75353624	CCT	C	C75353625G	NEIL1	NM_024608.4(NEIL1):c.719-114_719-113del	coding	Benign
15	75392558	AT	A	T75392559C	SIN3A	NM_001145358.2(SIN3A):c.2534del:p.Asp845fs	coding	Pathogenic
15	75392736	ATTTG	A	T75392742C	SIN3A	NM_001145358.2(SIN3A):c.2353_2356del:p.Gln785fs	coding	Pathogenic
15	75394697	C	CAA	T75394700A	SIN3A	NM_001145358.2(SIN3A):c.2258_2259dup:p.Glu754fs	coding	Pathogenic
15	75409923	CT	C	T75409925C	SIN3A	NM_001145358.2(SIN3A):c.1229del:p.Lys410fs	coding	Pathogenic
15	75410172	C	CT	G75410174T	SIN3A	NM_001145358.2(SIN3A):c.1122dup:p.Glu375fs	coding	Pathogenic
15	75430202	TAC	T	C75430204G	SIN3A	NM_001145358.2(SIN3A):c.172_173del:p.Val58fs	coding	Pathogenic
15	75430351	CCT	C	C75430352G	SIN3A	NM_001145358.2(SIN3A):c.23_24del:p.Gln8fs	coding	Pathogenic
15	76216528	AAAAG	A	A76216529T	ETFA	NM_000126.4(ETFA):c.*27_*30del	noncoding	Pathogenic
15	76216840	C	CT	G76216864T	ETFA	NM_000126.4(ETFA):c.964-266dup	noncoding	Benign
15	76216840	C	CTT	G76216864T	ETFA	NM_000126.4(ETFA):c.964-266_964-265dup	noncoding	Benign
15	76216840	C	CTTT	G76216864T	ETFA	NM_000126.4(ETFA):c.964-266_964-264dup	noncoding	Benign
15	76216840	C	CTTTT	G76216864T	ETFA	NM_000126.4(ETFA):c.964-266_964-263dup	noncoding	Benign
15	76225847	AC	A	C76225849T	ETFA	NM_000126.4(ETFA):c.963+1del	noncoding	Pathogenic
15	76226004	T	TCCTTA	A76226007T	ETFA	NM_000126.4(ETFA):c.883-76_883-75insGGTAA	noncoding	Benign
15	76226005	C	CCCTTA	A76226007C	ETFA	NM_000126.4(ETFA):c.883-77_883-76insGTAAG	noncoding	Benign
15	76274416	GCTA	G	C76274420T	ETFA	NM_000126.4(ETFA):c.806TAG[1]:p.Val270del	coding	Pathogenic
15	76283796	T	TA	G76283800A	ETFA	NM_000126.4(ETFA):c.693dup:p.Lys232Ter	coding	Pathogenic
15	76283841	GA	G	A76283852T	ETFA	NM_000126.4(ETFA):c.665-17del	noncoding	Benign
15	76283841	G	GA	T76283853A	ETFA	NM_000126.4(ETFA):c.665-17dup	noncoding	Benign
15	76286454	TC	T	C76286455A	ETFA	NM_000126.4(ETFA):c.478del:p.Asp160fs	coding	Pathogenic
15	76287869	G	GT	G76287871T	ETFA	NM_000126.4(ETFA):c.427dup:p.Thr143fs	coding	Pathogenic
15	76292345	T	TA	C76292349A	ETFA	NM_000126.4(ETFA):c.351+83dup	noncoding	Benign
15	76292459	ATG	A	G76292467A	ETFA	NM_000126.4(ETFA):c.321_322del:p.Ile108fs	coding	Pathogenic
15	76292459	ATGTG	A	G76292465A	ETFA	NM_000126.4(ETFA):c.319_322del:p.His107fs	coding	Pathogenic
15	76292496	TC	T	C76292497A	ETFA	NM_000126.4(ETFA):c.285del:p.Ile96fs	coding	Pathogenic
15	76295755	G	GA	G76295765A	ETFA	NM_000126.4(ETFA):c.40-19dup	noncoding	Benign
15	76295786	G	GT	A76295804T	ETFA	NM_000126.4(ETFA):c.40-66dup	noncoding	Benign
15	76295786	G	GTT	A76295804T	ETFA	NM_000126.4(ETFA):c.40-66_40-65dup	noncoding	Benign
15	76295786	GT	G	T76295803A	ETFA	NM_000126.4(ETFA):c.40-50del	noncoding	Benign
15	76311269	CA	C	A76311270G	ETFA	NM_000126.4(ETFA):c.39+80del	noncoding	Benign
15	77018267	CA	C	A77018268T	PSTPIP1	NM_003978.5(PSTPIP1):c.137+20del	noncoding	Benign
15	77032848	C	CT	G77032851T	PSTPIP1	NM_003978.5(PSTPIP1):c.839-12dup	noncoding	Benign/Likely_benign
15	77035568	A	AG	T77035574G	PSTPIP1	NM_003978.5(PSTPIP1):c.985+10dup	noncoding	Benign
15	77035767	G	GA	G77035770A	PSTPIP1	NM_003978.5(PSTPIP1):c.986-33dup	noncoding	Benign
15	77036983	CTCCCTGCAGGCCCT	C	C77037001A	PSTPIP1	NM_003978.5(PSTPIP1):c.1120-44_1120-31del	noncoding	Benign
15	78044923	CAA	C	A78044925G	TBC1D2B	NM_144572.2(TBC1D2B):c.658_659del:p.Leu220fs	coding	Pathogenic
15	78054121	T	TA	C78054123A	TBC1D2B	NM_144572.2(TBC1D2B):c.426dup:p.Asn143Ter	coding	Pathogenic
15	78109192	T	TC	A78109198C	CIB2	NM_006383.4(CIB2):c.346+38dup	noncoding	Benign
15	78109198	A	ACC	G78109201C	CIB2	NM_006383.4(CIB2):c.346+35_346+36dup	noncoding	Benign
15	78109269	TCGGGGAGCCGA	T	G78109271T	CIB2	NM_006383.4(CIB2):c.301_311del:p.Ser101fs	coding	Pathogenic
15	78109270	CGG	C	G78109273A	CIB2	NM_006383.4(CIB2):c.309_310del:p.Glu105fs	coding	Pathogenic
15	78110871	ACAGGTCTGCCAACTACAG	A	T78110876C	CIB2	NM_006383.4(CIB2):c.198+276_198+293del	noncoding	Benign
15	78130891	AG	A	G78130892A	CIB2	NM_006383.4(CIB2):c.51+273del	noncoding	Benign
15	78131168	GTAGTTGTC	G	T78131172C	CIB2	NM_006383.4(CIB2):c.40_47del:p.Asp14fs	coding	Pathogenic
15	78155226	TG	T	G78155231C	IDH3A	NM_005530.3(IDH3A):c.46del:p.Ala16fs	coding	Pathogenic
15	78620725	ACAG	A	A78620745C	CHRNA3	NM_000743.5(CHRNA3):c.49CTG[6]:p.Leu23del	coding	Benign
15	80153172	GGAGTGGAGTGGAGTGGAGT	G	A80153174G	FAH	NM_000137.4(FAH):c.81+39_81+57del	noncoding	Benign
15	80158073	T	TA	G80158075A	FAH	NM_000137.4(FAH):c.96dup:p.Gly33fs	coding	Pathogenic
15	80158168	CA	C	A80158169G	FAH	NM_000137.4(FAH):c.191del:p.Gln64fs	coding	Pathogenic
15	80159422	ACT	A	C80159425G	FAH	NM_000137.4(FAH):c.193-331_193-330del	noncoding	Benign
15	80168078	GC	G	C80168080G	FAH	NM_000137.4(FAH):c.484del:p.Arg162fs	coding	Pathogenic
15	80168143	GATGACTGTGAGTGACCGCAGCGTCCA	G	A80168144G	FAH	NM_000137.4(FAH):c.548_553+20del	coding	Pathogenic
15	80172238	CG	C	G80172239A	FAH	NM_000137.4(FAH):c.697del:p.Asp233fs	coding	Pathogenic
15	80172450	C	CAT	G80172451A	FAH	NM_000137.4(FAH):c.706+202_706+203insAT	noncoding	Benign
15	80172906	GA	G	A80172907G	FAH	NM_000137.4(FAH):c.707-107del	noncoding	Benign
15	80173048	CG	C	G80173051C	FAH	NM_000137.4(FAH):c.744del:p.Pro249fs	coding	Pathogenic/Likely_pathogenic
15	80174837	TC	T	C80174843T	FAH	NM_000137.4(FAH):c.838-173del	noncoding	Benign
15	80175037	CT	C	T80175038G	FAH	NM_000137.4(FAH):c.860del:p.Leu287fs	coding	Pathogenic
15	80177554	GC	G	C80177555G	FAH	NM_000137.4(FAH):c.932del:p.Ala311fs	coding	Pathogenic
15	80186245	GCACC	G	A80186247C	FAH	NM_000137.4(FAH):c.*38_*41del	noncoding	Benign
15	80186251	C	CTTTG	C80186255G	FAH	NM_000137.4(FAH):c.*45_*46insGTTT	noncoding	Benign
15	80186257	AC	A	C80186260T	FAH	NM_000137.4(FAH):c.*51del	noncoding	Benign/Likely_benign
15	80470185	TC	T	C80470190T	ARNT2	NM_014862.4(ARNT2):c.195-28del	noncoding	Benign
15	80508141	T	TTC	T80508153C	ARNT2	NM_014862.4(ARNT2):c.623-14TC[6]	noncoding	Benign
15	80576860	TC	T	C80576862T	ARNT2	NM_014862.4(ARNT2):c.1514-4del	noncoding	Benign
15	80591721	C	CCGCCTTCTCGTAGGTACCGG	T80591751G	ARNT2	NM_014862.4(ARNT2):c.2055+27_2055+46dup	noncoding	Benign
15	80907012	TC	T	C80907020A	CEMIP	NM_001293298.2(CEMIP):c.1587+182del	noncoding	Benign
15	80919814	CA	C	A80919827G	CEMIP	NM_001293298.2(CEMIP):c.1798-267del	noncoding	Benign
15	82151975	C	CA	T82151979A	EFL1	NM_024580.6(EFL1):c.2478dup:p.Gly827fs	coding	Pathogenic
15	82540075	AG	A	G82540076T	RPS17	NM_001021.6(RPS17):c.60del:p.Tyr21fs	coding	Pathogenic
15	82661854	A	AT	G82661856T	AP3B2	NM_001278512.2(AP3B2):c.2986dup:p.Met996fs	coding	Pathogenic
15	82663200	G	GGGGGAGACACAGGCTGGACACTGGGA	T82663231A	AP3B2	NM_001278512.2(AP3B2):c.2505_2530dup:p.Pro844fs	coding	Pathogenic
15	82676639	TGTG	T	G82676642T	AP3B2	NM_001278512.2(AP3B2):c.1489-5_1489-3del	noncoding	Benign
15	82677266	TC	T	C82677269T	AP3B2	NM_001278512.2(AP3B2):c.1488+7del	noncoding	Benign
15	82680456	TG	T	G82680461C	AP3B2	NM_001278512.2(AP3B2):c.1055+15del	noncoding	Benign
15	82680456	T	TG	C82680462G	AP3B2	NM_001278512.2(AP3B2):c.1055+15dup	noncoding	Benign
15	82680948	GT	G	T82680953G	AP3B2;CPEB1-AS1	NM_001278512.2(AP3B2):c.659del:p.Asn220fs	coding	Pathogenic
15	82681492	ATAGC	A	T82681497A	AP3B2	NM_001278512.2(AP3B2):c.445_448del:p.Ala149fs	coding	Pathogenic
15	82709691	CG	C	G82709696C	AP3B2	NM_001278512.2(AP3B2):c.15del:p.Ala6fs	coding	Pathogenic
15	82851190	CTGAGG	C	G82851192A	HOMER2	NM_004839.4(HOMER2):c.799_803del:p.Pro267fs	coding	Pathogenic
15	82859304	G	GT	A82859315T	HOMER2	NM_004839.4(HOMER2):c.388-179dup	noncoding	Benign
15	83704567	C	CAG	T83704568A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.189+59_189+60insAG	noncoding	Benign
15	83819661	CA	C	A83819679G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.364-132del	noncoding	Benign
15	83837802	G	GA	G83837815A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.601-275dup	noncoding	Benign
15	83885441	CA	C	A83885453C	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1072+241del	noncoding	Benign
15	83891015	ATATAT	A	T83891018A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1212-311_1212-307del	noncoding	Benign
15	83899418	CAT	C	A83899419G	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1616-228_1616-227del	noncoding	Benign
15	83899420	TG	T	G83899421T	ADAMTSL3	NM_207517.3(ADAMTSL3):c.1616-226del	noncoding	Benign
15	83988895	T	TTA	T83988897A	ADAMTSL3	NM_207517.3(ADAMTSL3):c.3844+78_3844+79insAT	noncoding	Benign
15	84654206	TCCCATGTCCCA	T	C84654207G	WDR73	NM_032856.5(WDR73):c.41+17_41+27del	coding	Benign
15	84816575	C	CA	G84816589A	ALPK3	Single_allele	noncoding	Benign
15	84816943	CT	C	T84816946G	ALPK3	NC_000015.9:g.85360175delT	coding	Pathogenic
15	84817508	CG	C	G84817514C	ALPK3	NM_020778.5(ALPK3):c.62del:p.Gly21fs	coding	Pathogenic
15	84827505	TG	T	G84827506C	ALPK3	NM_020778.5(ALPK3):c.205del:p.Ala69fs	coding	Pathogenic
15	84827597	TC	T	C84827598G	ALPK3	NM_020778.5(ALPK3):c.297del:p.Ile99fs	coding	Pathogenic/Likely_pathogenic
15	84838637	AT	A	T84838639G	ALPK3	NM_020778.5(ALPK3):c.305-341del	noncoding	Benign
15	84838638	T	TTA	G84838640A	ALPK3	NM_020778.5(ALPK3):c.305-341_305-340insAT	noncoding	Benign
15	84838638	T	TTATTA	G84838640A	ALPK3	NM_020778.5(ALPK3):c.305-341_305-340insATTAT	noncoding	Benign
15	84838638	T	TTATTATTA	G84838640A	ALPK3	NM_020778.5(ALPK3):c.305-341_305-340insATTATTAT	noncoding	Benign
15	84838638	T	TTATTATTATTA	G84838640A	ALPK3	NM_020778.5(ALPK3):c.305-341_305-340insATTATTATTAT	noncoding	Benign
15	84839057	ATCAC	A	C84839061T	ALPK3	NM_020778.5(ALPK3):c.386_389del:p.Thr129fs	coding	Pathogenic/Likely_pathogenic
15	84839681	AC	A	C84839683T	ALPK3	NM_020778.5(ALPK3):c.423-19del	noncoding	Benign/Likely_benign
15	84839700	AG	A	G84839702T	ALPK3	NM_020778.5(ALPK3):c.423del	noncoding	Pathogenic/Likely_pathogenic
15	84839771	AGGGGTCCTGGAGGT	A	G84839775C	ALPK3	NM_020778.5(ALPK3):c.496_509del:p.Val166fs	coding	Pathogenic
15	84839843	G	GGCTGCGGCAAA	C84839861G	ALPK3	NM_020778.5(ALPK3):c.571_581dup:p.Glu195fs	coding	Pathogenic/Likely_pathogenic
15	84839912	CA	C	A84839913C	ALPK3	NM_020778.5(ALPK3):c.634del:p.Thr212fs	coding	Pathogenic
15	84839997	A	AG	A84840001G	ALPK3	NM_020778.5(ALPK3):c.721dup:p.Glu241fs	coding	Pathogenic
15	84840036	GGA	G	G84840041C	ALPK3	NM_020778.5(ALPK3):c.762_763del:p.Glu254fs	coding	Pathogenic
15	84840690	A	AC	A84840697C	ALPK3	NM_020778.5(ALPK3):c.1417dup:p.Gln473fs	coding	Pathogenic/Likely_pathogenic
15	84840690	AC	A	C84840696A	ALPK3	NM_020778.5(ALPK3):c.1417del:p.Gln473fs	coding	Pathogenic
15	84840716	CA	C	A84840717G	ALPK3	NM_020778.5(ALPK3):c.1438del:p.Arg480fs	coding	Pathogenic/Likely_pathogenic
15	84840901	AG	A	G84840905C	ALPK3	NM_020778.5(ALPK3):c.1626del:p.Gln543fs	coding	Pathogenic
15	84856781	GG	CT	G84856781C	ALPK3	NM_020778.5(ALPK3):c.2043_2044delinsCT:p.Gln681_Glu682delinsHisTer	coding	Pathogenic/Likely_pathogenic
15	84856861	AG	A	G84856865A	ALPK3	NM_020778.5(ALPK3):c.2127del:p.Thr710fs	coding	Pathogenic
15	84857173	A	AG	T84857176G	ALPK3	NM_020778.5(ALPK3):c.2437dup:p.Val813fs	coding	Pathogenic
15	84857209	C	TCATT	C84857209T	ALPK3	NM_020778.5(ALPK3):c.2471delinsTCATT:p.Ser824fs	coding	Pathogenic
15	84857346	CT	C	T84857348C	ALPK3	NM_020778.5(ALPK3):c.2610del:p.Pro871fs	coding	Pathogenic
15	84857348	TC	T	C84857350T	ALPK3	NM_020778.5(ALPK3):c.2612del:p.Pro871fs	coding	Pathogenic
15	84857463	GC	G	C84857467A	ALPK3	NM_020778.5(ALPK3):c.2729del:p.Pro910fs	coding	Pathogenic
15	84857490	A	AC	A84857496C	ALPK3	NM_020778.5(ALPK3):c.2757dup:p.Thr920fs	coding	Pathogenic
15	84857871	GACCGTGAGGTGCAGGCTGGCCGCCAGGCCCTTGCTGCTGCCCGAGGCTCCTGGGGTCCTGGTCCCAGCTCCCTCACTGTCCCTGCCATTGTGGTAGACGAGGAGGACCCTGGGCTGGCCTCAGAAGGAGCCAGTGAGGGTGAAGGAGAGGTTTCCCCTGAGGGGCCTGGCCTCCTGGGGGCCTCTCAGGAGAGCAGCATGGCTGGTCGACTGGGGGAGGCGGGTGGGCAGGCAGCCCCTGGACAGGGGCCCTCAGCAGAGAGCATAGCCCAGGAGCCCTCCCAAGAGGAGAAGTTCCCAGGGGAGGCTCTGACAGGTCTCCCGGCAGCTACACCTGAGGAACTGGCTCTAGGGGCCCGGAGGAAGAGATTTCTCCCTAAGGTCAGAGCAGCAGGAGACGGGGAGGCAACCACACCTGAAGAAAGGGAGAGCCCCACGGTTTCCCCCCGGGGGCCCAGGAAAAGCCTGGTGCCTGGGTCCCCAGGGACTCCAGGGCGGGAGAGACGCTCCCCTACGCAGGGCAGAAA	G	A84857872G	ALPK3	NM_020778.5(ALPK3):c.3134_3659del:p.Asp1045fs	coding	Pathogenic
15	84857968	ACG	A	C84857969A	ALPK3	NM_020778.5(ALPK3):c.3231_3232del:p.Asp1077fs	coding	Pathogenic/Likely_pathogenic
15	84858115	AG	A	G84858119C	ALPK3	NM_020778.5(ALPK3):c.3381del:p.Ser1129fs	coding	Pathogenic
15	84858134	C	CAT	G84858138T	ALPK3	NM_020778.5(ALPK3):c.3398_3399dup:p.Ala1134Ter	coding	Pathogenic
15	84858136	T	TAGCCCAGG	T84858150A	ALPK3	NM_020778.5(ALPK3):c.3404_3411dup:p.Ser1138fs	coding	Pathogenic
15	84858173	G	GGA	G84858177A	ALPK3	NM_020778.5(ALPK3):c.3437_3438dup:p.Ala1147fs	coding	Pathogenic
15	84858269	CG	C	G84858273A	ALPK3	NM_020778.5(ALPK3):c.3535del:p.Glu1179fs	coding	Pathogenic
15	84858312	T	TC	G84858319C	ALPK3	NM_020778.5(ALPK3):c.3580dup:p.Arg1194fs	coding	Pathogenic/Likely_pathogenic
15	84858454	GC	G	C84858458A	ALPK3	NM_020778.5(ALPK3):c.3720del:p.Ser1241fs	coding	Pathogenic
15	84858460	GC	G	C84858464A	ALPK3	NM_020778.5(ALPK3):c.3726del:p.Lys1243fs	coding	Pathogenic/Likely_pathogenic
15	84859314	C	CA	G84859316A	ALPK3	NM_020778.5(ALPK3):c.3890dup:p.Phe1298fs	coding	Pathogenic
15	84859360	ATC	A	T84859361A	ALPK3	NM_020778.5(ALPK3):c.3936_3937del:p.Asp1312fs	coding	Pathogenic
15	84859819	TC	T	C84859824G	ALPK3	NM_020778.5(ALPK3):c.4014del:p.Pro1338_Val1339insTer	coding	Pathogenic
15	84860080	T	TC	T84860087C	ALPK3	NM_020778.5(ALPK3):c.4129+14dup	noncoding	Benign
15	84862655	AC	A	C84862659T	ALPK3	NM_020778.5(ALPK3):c.4154del:p.Pro1385fs	coding	Pathogenic
15	84862893	GA	G	A84862896C	ALPK3	NM_020778.5(ALPK3):c.4391del:p.Asn1464fs	coding	Pathogenic/Likely_pathogenic
15	84863633	G	GT	G84863635T	ALPK3	NM_020778.5(ALPK3):c.4493dup:p.Pro1499fs	coding	Pathogenic
15	84864506	G	GT	A84864507T	ALPK3	NM_020778.5(ALPK3):c.4564_4565insT:p.Asp1522fs	coding	Pathogenic/Likely_pathogenic
15	87876716	A	AAT	T87876739A	NTRK3	NM_001012338.3(NTRK3):c.*197AT[12]	noncoding	Benign
15	87880105	AT	A	T87880115C	NTRK3	NM_001012338.3(NTRK3):c.2334+164del	noncoding	Benign
15	88147505	C	CCTT	A88147555T	NTRK3	NM_001012338.3(NTRK3):c.396-150AAG[17]	noncoding	Benign
15	88147505	CCTT	C	T88147552A	NTRK3	NM_001012338.3(NTRK3):c.396-150AAG[15]	noncoding	Benign
15	88147505	CCTTCTT	C	T88147549A	NTRK3	NM_001012338.3(NTRK3):c.396-150AAG[14]	noncoding	Benign
15	88147505	CCTTCTTCTT	C	T88147546A	NTRK3	NM_001012338.3(NTRK3):c.396-150AAG[13]	noncoding	Benign
15	88147505	CCTTCTTCTTCTTCTTCTTCTT	C	T88147534A	NTRK3	NM_001012338.3(NTRK3):c.396-150AAG[9]	noncoding	Benign
15	88255577	C	CA	C88255587A	NTRK3	NM_001012338.3(NTRK3):c.248+320dup	noncoding	Benign
15	88838473	CT	C	T88838474G	ACAN	NM_001369268.1(ACAN):c.71-189del	noncoding	Benign
15	88841495	G	GA	T88841503A	ACAN	NM_001369268.1(ACAN):c.630-238dup	noncoding	Benign
15	88841502	AT	A	T88841503A	ACAN	NM_001369268.1(ACAN):c.630-237del	noncoding	Benign
15	88843312	AG	A	G88843318A	ACAN	NM_001369268.1(ACAN):c.758-37del	noncoding	Benign
15	88843462	GC	G	C88843464T	ACAN	NM_001369268.1(ACAN):c.867del:p.Trp290fs	coding	Pathogenic
15	88845544	T	TG	T88845551G	ACAN	NM_001369268.1(ACAN):c.1097dup:p.Gly366_Glu367insTer	coding	Pathogenic
15	88847363	ACGAAG	A	G88847365A	ACAN	NM_001369268.1(ACAN):c.1552_1556del:p.Glu518fs	coding	Pathogenic
15	88849577	C	CGGCT	C88849589T	ACAN	NM_001369268.1(ACAN):c.1880_1883dup:p.Asp629fs	coding	Pathogenic
15	88854866	TG	T	G88854868C	ACAN	NM_001369268.1(ACAN):c.2283del:p.Trp761fs	coding	Pathogenic
15	88857057	CT	C	T88857059C	ACAN	NM_001369268.1(ACAN):c.4474del:p.Ser1492fs	coding	Pathogenic
15	88857427	AG	A	G88857429A	ACAN	NM_001369268.1(ACAN):c.4844del:p.Gly1615fs	coding	Pathogenic
15	88860072	C	CT	G88860094T	ACAN	NM_001369268.1(ACAN):c.6833-233dup	noncoding	Benign
15	88860072	C	CTTTT	G88860094T	ACAN	NM_001369268.1(ACAN):c.6833-236_6833-233dup	noncoding	Benign
15	88860072	CTTTT	C	T88860090G	ACAN	NM_001369268.1(ACAN):c.6833-236_6833-233del	noncoding	Benign
15	88860309	T	TC	T88860314C	ACAN	NM_001369268.1(ACAN):c.6833-13dup	noncoding	Benign
15	88860545	G	GCTCAGGCTT	G88860554T	ACAN	NM_001369268.1(ACAN):c.6946+114_6946+115insTCTCAGGCT	noncoding	Benign
15	89217168	TGAAGCGCAGGAA	T	G89217174C	RLBP1	NM_000326.5(RLBP1):c.286_297del:p.Phe96_Phe99del	coding	Pathogenic/Likely_pathogenic
15	89217215	AC	A	C89217216G	RLBP1	NM_000326.5(RLBP1):c.250del:p.Val84fs	coding	Pathogenic
15	89261270	C	CA	G89261280A	FANCI	NM_001113378.2(FANCI):c.289-306dup	noncoding	Benign
15	89261589	AC	A	C89261591A	FANCI	NM_001113378.2(FANCI):c.295del:p.His99fs	coding	Pathogenic/Likely_pathogenic
15	89261958	C	CTG	G89261961T	FANCI	NM_001113378.2(FANCI):c.503+81_503+82dup	noncoding	Benign
15	89268475	GC	G	C89268477A	FANCI	NM_001113378.2(FANCI):c.834del:p.Ile279fs	coding	Pathogenic
15	89268651	CT	C	T89268664A	FANCI	NM_001113378.2(FANCI):c.882+139del	noncoding	Benign
15	89273510	GT	G	T89273511A	FANCI	NM_001113378.2(FANCI):c.975+42del	noncoding	Benign
15	89273511	TAAA	T	A89273533T	FANCI	NM_001113378.2(FANCI):c.975+64_975+66del	noncoding	Benign
15	89273511	TAA	T	A89273534T	FANCI	NM_001113378.2(FANCI):c.975+65_975+66del	noncoding	Benign
15	89273511	TA	T	A89273535T	FANCI	NM_001113378.2(FANCI):c.975+66del	noncoding	Benign
15	89273511	T	TAAA	T89273536A	FANCI	NM_001113378.2(FANCI):c.975+64_975+66dup	noncoding	Benign
15	89273511	T	TA	T89273536A	FANCI	NM_001113378.2(FANCI):c.975+66dup	noncoding	Benign
15	89273751	TGGA	T	G89273755A	FANCI	NM_001113378.2(FANCI):c.975+286_975+288del	noncoding	Benign
15	89281211	CA	C	A89281214G	FANCI	NM_001113378.2(FANCI):c.1426del:p.Ser476fs	coding	Pathogenic
15	89283193	T	TAAAGTTTTAGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	C89283208G	FANCI	NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG:p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
15	89285264	AT	A	T89285269A	FANCI	NM_001113378.2(FANCI):c.1821+51del	noncoding	Benign
15	89292723	CT	C	T89292724G	FANCI	NM_001113378.2(FANCI):c.2029del:p.Trp677fs	coding	Pathogenic
15	89293822	G	GT	A89293829T	FANCI	NM_001113378.2(FANCI):c.2292-5dup	noncoding	Benign
15	89293881	ACT	A	C89293886G	FANCI	NM_001113378.2(FANCI):c.2345_2346del:p.Leu781_Ser782insTer	coding	Pathogenic
15	89293886	C	CTT	G89293888T	FANCI	NM_001113378.2(FANCI):c.2346_2347insTT:p.Asp783fs	coding	Pathogenic
15	89294601	AGG	A	G89294607T	FANCI	NM_001113378.2(FANCI):c.2457-308_2457-307del	noncoding	Benign
15	89294640	A	AAACC	A89294643C	FANCI	NM_001113378.2(FANCI):c.2457-273_2457-272insCCAA	noncoding	Benign
15	89299856	AAGAG	A	G89299858A	FANCI	NM_001113378.2(FANCI):c.2695_2698del:p.Glu899fs	coding	Pathogenic
15	89300353	C	CA	G89300355A	FANCI	NM_001113378.2(FANCI):c.2858dup:p.Arg954fs	coding	Pathogenic
15	89304777	CT	C	T89304793G	FANCI	NM_001113378.2(FANCI):c.3059-322del	noncoding	Benign
15	89305173	TAA	T	A89305174G	FANCI	NM_001113378.2(FANCI):c.3118_3119del:p.Lys1040fs	coding	Pathogenic
15	89306125	C	CAGCT	G89306130A	FANCI	NM_001113378.2(FANCI):c.3469_3472dup:p.Cys1158Ter	coding	Pathogenic
15	89307637	A	AC	T89307644C	FANCI	NM_001113378.2(FANCI):c.3622dup:p.Leu1208fs	coding	Pathogenic
15	89307643	C	CT	G89307645T	FANCI	NM_001113378.2(FANCI):c.3623dup:p.Cys1209fs	coding	Pathogenic
15	89312816	TAA	T	A89312834T	FANCI	NM_001113378.2(FANCI):c.3652-70_3652-69del	noncoding	Benign/Likely_benign
15	89312816	TA	T	A89312835T	FANCI	NM_001113378.2(FANCI):c.3652-69del	noncoding	Benign
15	89312816	T	TAA	T89312836A	FANCI	NM_001113378.2(FANCI):c.3652-70_3652-69dup	noncoding	Benign
15	89314480	A	ATACAAG	C89314486G	FANCI	NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA	noncoding	Benign/Likely_benign
15	89314689	CCTTT	C	T89314692A	FANCI	NM_001113378.2(FANCI):c.3801_3804del:p.Ser1268fs	coding	Pathogenic
15	89317438	G	GTCACT	C89317446A	POLG	NM_002693.3(POLG):c.3576_3580dup:p.Thr1194delinsLysTer	coding	Pathogenic
15	89317759	C	CT	C89317773T	POLG	NM_002693.3(POLG):c.3483-236dup	noncoding	Benign
15	89318347	C	CT	A89318355T	POLG	NM_002693.3(POLG):c.3482+187dup	noncoding	Benign
15	89318598	C	CG	C89318600G	POLG	NM_002693.3(POLG):c.3424dup:p.Arg1142fs	coding	Pathogenic/Likely_pathogenic
15	89318694	TGTAA	T	A89318698G	POLG	NM_002693.3(POLG):c.3325_3328del:p.Leu1109fs	coding	Pathogenic
15	89318696	T	TA	G89318699A	POLG	NM_002693.3(POLG):c.3326dup:p.Leu1109fs	coding	Pathogenic
15	89318935	T	TA	C89318936A	POLG	NM_002693.3(POLG):c.3268_3269insT:p.Glu1090fs	coding	Pathogenic
15	89319229	TC	T	C89319231T	POLG	NM_002693.3(POLG):c.3102del:p.Lys1035fs	coding	Pathogenic
15	89319318	ACCAGCCACTCG	A	A89319321C	POLG	NM_002693.3(POLG):c.3003_3013del:p.Trp1003fs	coding	Pathogenic
15	89320839	TAAACTGC	T	A89320841T	POLG	NM_002693.3(POLG):c.2901_2907del:p.Met967fs	coding	Pathogenic
15	89320849	TAGTA	T	T89320852C	POLG	NM_002693.3(POLG):c.2894_2897del:p.Arg964_Leu965insTer	coding	Pathogenic
15	89321085	G	GACCT	C89321086A	POLG	NM_002693.3:c.2734+39_2734+40insAGGT	noncoding	Benign
15	89321155	G	GCACAGCTGCAATC	C89321176G	POLG	NM_002693.3(POLG):c.2691_2703dup:p.Leu902fs	coding	Pathogenic
15	89323037	ACGCACGCG	A	G89323053A	POLG	NM_002693.3(POLG):c.2266-143_2266-136del	noncoding	Benign
15	89324172	TC	T	C89324173A	POLG	NM_002693.3(POLG):c.2004del:p.Met669fs	coding	Pathogenic
15	89324392	CA	C	A89324395C	POLG	NM_002693.3(POLG):c.1950-166del	noncoding	Benign
15	89325552	TC	T	C89325553T	POLG	NM_002693.3(POLG):c.1846del:p.Glu616fs	coding	Pathogenic
15	89325612	A	ATCTG	C89325617T	POLG	NM_002693.3(POLG):c.1783_1786dup:p.Met596fs	coding	Pathogenic
15	89326918	GATCC	G	C89326921G	POLG	NM_002693.3(POLG):c.1575_1578del:p.Met525fs	coding	Pathogenic
15	89328455	C	CCTCTCCAAGAAGAG	G89328471T	POLG	NM_002693.3(POLG):c.1237_1250dup:p.Arg417fs	noncoding	Pathogenic
15	89328666	G	GC	T89328672C	POLG	NM_002693.3(POLG):c.1170+18dup	noncoding	Benign/Likely_benign
15	89333368	GGGCGGCA	G	G89333373C	POLG	NM_002693.3(POLG):c.380_386del:p.Leu127fs	coding	Pathogenic/Likely_pathogenic
15	89333467	GC	G	C89333469A	POLG	NM_002693.3(POLG):c.287del:p.Gly96fs	coding	Pathogenic
15	89333603	T	TCTGCTG	G89333604C	POLG	NM_002693.3(POLG):c.151_152insCAGCAG:p.Gln51delinsProAlaGlu	coding	Benign
15	89333666	ACGGAGCTGGAGACCCAGCGCCC	A	G89333677A	POLG	NM_002693.3(POLG):c.67_88del:p.Gly23fs	coding	Pathogenic/Likely_pathogenic
15	89334712	AC	A	C89334716A	POLG	NM_002693.3(POLG):c.-200del	noncoding	Benign/Likely_benign
15	89629188	GGGGTGGGGGCTGTGGGCTGGGT	G	T89629192G	KIF7	NM_198525.3(KIF7):c.3518-88_3518-67del	noncoding	Benign
15	89630356	G	GT	C89630359T	KIF7	NM_198525.3(KIF7):c.3248dup:p.Asn1083fs	coding	Pathogenic
15	89633008	TAGGG	T	G89633022A	KIF7	NM_198525.3(KIF7):c.2719-28CCCT[3]	noncoding	Benign/Likely_benign
15	89633008	T	TAGGGAGGGAGGGAGGG	A89633026G	KIF7	NM_198525.3(KIF7):c.2719-28CCCT[8]	noncoding	Benign/Likely_benign
15	89633020	G	GAGGGAGGGAGGGAGGA	A89633026G	KIF7	NM_198525.3(KIF7):c.2719-25_2719-24insTCCCTTCCTCCCTCCC	noncoding	Benign
15	89633707	GCTCATTTCTGC	G	A89633711C	KIF7	NM_198525.3(KIF7):c.2560_2570del:p.Ala854fs	coding	Pathogenic
15	89646915	A	AG	C89646922G	KIF7	NM_198525.3(KIF7):c.1702dup:p.Leu568fs	coding	Pathogenic
15	89648286	TCCTCGACG	T	C89648287G	KIF7	NM_198525.3(KIF7):c.1404_1411del:p.Val469fs	coding	Pathogenic
15	89648449	CG	C	G89648451T	KIF7	NM_198525.3(KIF7):c.1248del:p.Asp417fs	coding	Pathogenic
15	89648475	TCGGCGCCCAGG	T	G89648478C	KIF7	NM_198525.3(KIF7):c.1212_1222del:p.Leu405fs	coding	Pathogenic
15	89648548	T	TG	C89648550G	KIF7	NM_198525.3(KIF7):c.1149dup:p.Ile384fs	coding	Pathogenic
15	89648678	G	GA	G89648680A	KIF7	NM_198525.3(KIF7):c.1019dup:p.Asn341fs	coding	Pathogenic
15	89665842	CCA	C	C89665843G	PLIN1	NM_002666.5(PLIN1):c.1308_1309del:p.Pro439fs	coding	Pathogenic
15	89665942	GC	G	C89665943T	PLIN1	NM_002666.5(PLIN1):c.1210-1del	coding	Pathogenic
15	89666942	G	GTA	A89666945T	PLIN1	NM_002666.5(PLIN1):c.1201_1202dup:p.Val402fs	coding	Pathogenic
15	89667943	GT	G	T89667945G	PLIN1	NM_002666.5(PLIN1):c.772-151del	noncoding	Benign
15	89751065	G	GCGGGGCTCGGCA	C89751075G	MESP1	NM_018670.4(MESP1):c.166_167insTGCCGAGCCCCG:p.Pro55_Ala56insValProSerPro	coding	Benign
15	89751076	C	CACGGGGCTCGG	G89751085C	MESP1	NM_018670.4(MESP1):c.155_156insCCGAGCCCCGT:p.Ala53fs	coding	Benign
15	89776368	C	CGCCTCCTCCGCAGA	G89776391C	MESP2	NM_001039958.2(MESP2):c.20_33dup:p.Gly12fs	coding	Pathogenic
15	89776368	CGCCTCCTCCGCAGA	C	C89776377G	MESP2	NM_001039958.2(MESP2):c.20_33del:p.Pro7fs	coding	Pathogenic
15	89776518	C	CACAGCCTCCGAGCT	G89776533A	MESP2	NM_001039958.2(MESP2):c.162_175dup:p.Cys59fs	coding	Pathogenic
15	89776532	T	TGCAGCTCCCGAGCC	A89776551C	MESP2	NM_001039958.2(MESP2):c.180_193dup:p.Glu65fs	coding	Pathogenic
15	89776678	T	TCTGC	C89776685G	MESP2	NM_001039958.2(MESP2):c.324_327dup:p.Pro110fs	coding	Pathogenic
15	90087093	CA	C	A90087094G	IDH2	NM_002168.4(IDH2):c.967+18del	noncoding	Benign
15	90087779	C	CT	G90087794T	IDH2	NM_002168.4(IDH2):c.679-218dup	noncoding	Benign
15	90087806	C	CTT	G90087824T	IDH2	NM_002168.4(IDH2):c.679-248_679-247dup	noncoding	Benign
15	90087806	C	CTTT	G90087824T	IDH2	NM_002168.4(IDH2):c.679-248_679-246dup	noncoding	Benign
15	90087860	TAC	T	C90087862T	IDH2	NM_002168.4(IDH2):c.679-287_679-286del	noncoding	Benign
15	90091452	CG	C	G90091459T	IDH2	NM_002168.4(IDH2):c.207+100del	noncoding	Benign
15	90091762	GC	G	C90091765G	IDH2	NM_002168.4(IDH2):c.116-119del	noncoding	Benign
15	90102783	TC	T	C90102784T	IDH2	Single_allele	noncoding	Benign
15	90231208	CAA	C	A90231210G	CIB1	NM_006384.4(CIB1):c.350_351del:p.Asp116_Phe117insTer	coding	Pathogenic
15	90231215	TAGAG	T	A90231218C	CIB1	NM_006384.4(CIB1):c.347-6_347-3del	noncoding	Benign
15	90231509	TAGG	T	G90231512A	CIB1	NM_006384.4(CIB1):c.196-5_196-3del	noncoding	Benign
15	90747474	TC	T	C90747475A	BLM	NM_000057.4(BLM):c.83del:p.Leu27_Ser28insTer	coding	Pathogenic
15	90747497	GT	G	T90747501G	BLM	NM_000057.4(BLM):c.98+11del	noncoding	Benign
15	90749441	CTG	C	G90749443A	BLM	NM_000057.4(BLM):c.175_176del:p.Val59fs	coding	Pathogenic
15	90749493	AC	A	C90749495T	BLM	NM_000057.4(BLM):c.227del:p.Pro76fs	coding	Pathogenic
15	90749566	CAGAG	C	A90749569G	BLM	NM_000057.4(BLM):c.301_304del:p.Arg101fs	coding	Pathogenic
15	90749623	GTA	G	A90749625G	BLM	NM_000057.4(BLM):c.357_358del:p.Cys120fs	coding	Pathogenic
15	90749655	GA	G	A90749658T	BLM	NM_000057.4(BLM):c.390del:p.Lys130fs	coding	Pathogenic
15	90749662	C	CG	A90749666G	BLM	NM_000057.4(BLM):c.397dup:p.Asp133fs	coding	Pathogenic
15	90749714	GT	G	T90749715A	BLM	NM_000057.4(BLM):c.447del:p.Ser149fs	coding	Pathogenic
15	90749778	T	TA	C90749780A	BLM	NM_000057.4(BLM):c.511dup:p.Thr171fs	coding	Pathogenic
15	90749831	AG	A	G90749834T	BLM	NM_000057.4(BLM):c.566del:p.Gly189fs	coding	Pathogenic
15	90749836	AAG	A	G90749840A	BLM	NM_000057.4(BLM):c.572_573del:p.Arg191fs	coding	Pathogenic
15	90749872	AAC	A	C90749876G	BLM	NM_000057.4(BLM):c.608_609del:p.Thr203fs	coding	Pathogenic/Likely_pathogenic
15	90749888	AT	A	T90749891G	BLM	NM_000057.4(BLM):c.623del:p.Leu208fs	coding	Pathogenic
15	90749967	CGATGTGATTTG	C	G90749968C	BLM	NM_000057.4(BLM):c.700_710del:p.Asp234fs	coding	Pathogenic
15	90749988	TG	T	G90749990C	BLM	NM_000057.4(BLM):c.722del:p.Gly241fs	coding	Pathogenic
15	90750024	TC	T	C90750025A	BLM	NM_000057.4(BLM):c.757del:p.Gln253fs	coding	Pathogenic
15	90750055	G	GA	G90750058A	BLM	NM_000057.4(BLM):c.789dup:p.Asp264fs	coding	Pathogenic
15	90751811	TG	T	G90751813A	BLM	NM_000057.4(BLM):c.826del:p.Glu276fs	coding	Pathogenic
15	90751839	GA	G	A90751842G	BLM	NM_000057.4(BLM):c.855del:p.Val286fs	coding	Pathogenic
15	90751927	TC	T	C90751929T	BLM	NM_000057.4(BLM):c.942del:p.Ser315fs	coding	Pathogenic/Likely_pathogenic
15	90754834	CT	C	T90754835G	BLM	NM_000057.4(BLM):c.984del:p.Asp329fs	coding	Pathogenic
15	90754840	GA	G	A90754844G	BLM	NM_000057.4(BLM):c.993del:p.Glu332fs	coding	Pathogenic
15	90754853	T	TCTTA	G90754858C	BLM	NM_000057.4(BLM):c.1003_1006dup:p.Ser336delinsThrTer	coding	Pathogenic/Likely_pathogenic
15	90760148	TAGAC	T	C90760152T	BLM	NM_000057.4(BLM):c.1093_1096del:p.Arg364_Gln365insTer	coding	Pathogenic
15	90760212	AC	A	C90760213T	BLM	NM_000057.4(BLM):c.1154del:p.Thr385fs	coding	Pathogenic
15	90760232	G	GA	C90760236A	BLM	NM_000057.4(BLM):c.1176dup:p.Leu393fs	coding	Pathogenic
15	90760662	A	AAT	C90760663A	BLM	NM_000057.4(BLM):c.1289_1290insAT:p.Tyr430Ter	coding	Pathogenic
15	90760711	AG	A	G90760714A	BLM	NM_000057.4(BLM):c.1341del:p.Asn448fs	coding	Pathogenic
15	90760718	TC	T	C90760719T	BLM	NM_000057.4(BLM):c.1346del:p.Ser449fs	coding	Pathogenic
15	90760731	TA	T	A90760734T	BLM	NM_000057.4(BLM):c.1361del:p.Asn454fs	coding	Pathogenic
15	90760779	TACTG	T	G90760783A	BLM	NM_000057.4(BLM):c.1410_1413del:p.Thr471fs	coding	Pathogenic
15	90760857	AT	A	T90760860A	BLM	NM_000057.4(BLM):c.1487del:p.Leu496fs	coding	Pathogenic
15	90760906	A	AG	A90760909G	BLM	NM_000057.4(BLM):c.1535dup:p.Asn515fs	coding	Pathogenic
15	90760919	G	GA	G90760923A	BLM	NM_000057.4(BLM):c.1549dup:p.Ser517fs	coding	Pathogenic/Likely_pathogenic
15	90761001	T	TAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A90761016G	BLM	NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC:p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
15	90761003	GA	G	A90761006G	BLM	NM_000057.4(BLM):c.1633del:p.Arg545fs	coding	Pathogenic
15	90761014	C	CAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	C90761015A	BLM	NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA:p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
15	90761089	TAATTTAGCAGCCAGCA	T	T90761093C	BLM	NM_000057.4(BLM):c.1720_1735del:p.Ala575fs	coding	Pathogenic/Likely_pathogenic
15	90761124	AT	A	T90761125C	BLM	NM_000057.4(BLM):c.1752del:p.Gln585fs	coding	Pathogenic/Likely_pathogenic
15	90761133	TCAAGGAAGGTCGGC	T	G90761137T	BLM	NM_000057.4(BLM):c.1764_1777del:p.Lys588fs	coding	Pathogenic/Likely_pathogenic
15	90761134	CA	C	A90761136G	BLM	NM_000057.4(BLM):c.1763del:p.Lys588fs	coding	Pathogenic
15	90761163	CAGAA	C	A90761167C	BLM	NM_000057.4(BLM):c.1794_1797del:p.Glu598fs	coding	Pathogenic
15	90761190	ACTGT	A	G90761193T	BLM	NM_000057.4(BLM):c.1820_1823del:p.Cys607fs	coding	Pathogenic
15	90761193	G	GCTTCCAGTGTCTGGAAGTAGATGACACT	T90761194C	BLM	NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT:p.Leu608fs	coding	Pathogenic
15	90761236	GTC	G	T90761237A	BLM	NM_000057.4(BLM):c.1864_1865del:p.Ser622fs	coding	Pathogenic
15	90763007	GA	G	A90763008G	BLM	NM_000057.4(BLM):c.1925del:p.Glu642fs	coding	Pathogenic
15	90763010	CG	C	G90763011T	BLM	NM_000057.4(BLM):c.1928del:p.Arg643fs	coding	Pathogenic
15	90763063	T	TAAAAAATTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C90763075G	BLM	NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG:p.Leu665fs	coding	Pathogenic
15	90765304	AAG	A	A90765307T	BLM	NM_000057.4(BLM):c.2086_2087del:p.Ser696fs	coding	Pathogenic
15	90765313	T	TGTTA	C90765318G	BLM	NM_000057.4(BLM):c.2093_2096dup:p.Tyr699Ter	coding	Pathogenic
15	90765328	GCCTGTGTTTCT	G	T90765333G	BLM	NM_000057.4(BLM):c.2112_2122del:p.Cys704fs	coding	Pathogenic
15	90765350	CTG	C	G90765352T	BLM	NM_000057.4(BLM):c.2131_2132del:p.Val711fs	coding	Pathogenic
15	90765380	T	TCGTA	G90765385C	BLM	NM_000057.4(BLM):c.2160_2163dup:p.Asp722fs	coding	Pathogenic
15	90766922	T	TTAGA	A90766923T	BLM	NM_000057.4(BLM):c.2206_2207insTAGA:p.Tyr736fs	coding	Pathogenic
15	90766925	CTGA	C	T90766926C	BLM	NM_000057.4(BLM):c.2210_2212del:p.Leu737_Thr738delinsPro	coding	Pathogenic
15	90766956	CA	C	A90766959T	BLM	NM_000057.4(BLM):c.2243del:p.Asn748fs	coding	Pathogenic
15	90766993	CATAAAACTTCT	C	A90766997T	BLM	NM_000057.4(BLM):c.2281_2291del:p.Lys761fs	coding	Pathogenic
15	90766999	AC	A	C90767000T	BLM	NM_000057.4(BLM):c.2284del:p.Leu762fs	coding	Pathogenic
15	90769209	AT	A	T90769210G	BLM	NM_000057.4(BLM):c.2385del:p.Asp795fs	coding	Pathogenic
15	90769222	TGTCA	T	T90769228G	BLM	NM_000057.4(BLM):c.2404_2407del:p.Gln802fs	coding	Pathogenic
15	90769241	G	GT	A90769248T	BLM	NM_000057.4(BLM):c.2406+16dup	noncoding	Benign
15	90769420	A	AT	C90769430T	BLM	NM_000057.4(BLM):c.2407-9dup	noncoding	Benign
15	90769438	TG	T	G90769442A	BLM	NM_000057.4(BLM):c.2411del:p.Gly804fs	coding	Pathogenic
15	90769522	GC	G	C90769524A	BLM	NM_000057.4(BLM):c.2493del:p.Thr832fs	coding	Pathogenic
15	90769665	G	GCGCT	T90769670C	BLM	NM_000057.4(BLM):c.2555+80_2555+83dup	noncoding	Benign
15	90782822	GT	G	T90782825A	BLM	NM_000057.4(BLM):c.2559del:p.Phe853fs	coding	Pathogenic
15	90782844	CA	C	A90782845T	BLM	NM_000057.4(BLM):c.2579del:p.His860fs	coding	Pathogenic
15	90784935	AT	A	T90784938A	BLM	NM_000057.4(BLM):c.2680del:p.Tyr894fs	coding	Pathogenic
15	90785038	GA	G	A90785039G	BLM	NM_000057.4(BLM):c.2781del:p.Asp928fs	coding	Pathogenic
15	90785075	C	CT	G90785077T	BLM	NM_000057.4(BLM):c.2818dup:p.Cys940fs	coding	Pathogenic
15	90790484	CATATT	C	T90790486G	BLM	NM_000057.4(BLM):c.2824-163_2824-159del	noncoding	Benign
15	90790519	GA	G	A90790520T	BLM	NM_000057.4(BLM):c.2824-129del	noncoding	Benign
15	90790722	TC	T	C90790725T	BLM	NM_000057.4(BLM):c.2900del:p.Pro967fs	coding	Pathogenic
15	90790740	GT	G	T90790742A	BLM	NM_000057.4(BLM):c.2917del:p.Tyr973fs	coding	Pathogenic
15	90790804	TA	T	A90790805C	BLM	NM_000057.4(BLM):c.2980del:p.Thr994fs	coding	Pathogenic
15	90790812	ATGATG	A	T90790816C	BLM	NM_000057.4(BLM):c.2991_2995del:p.Val998fs	coding	Pathogenic
15	90790835	CTT	C	T90790836A	BLM	NM_000057.4(BLM):c.3011_3012del:p.Leu1004fs	coding	Pathogenic
15	90790840	AAT	A	A90790841G	BLM	NM_000057.4(BLM):c.3016_3017del:p.Met1006fs	coding	Pathogenic/Likely_pathogenic
15	90793947	G	GA	C90793959A	BLM	NM_000057.4(BLM):c.3020-209dup	noncoding	Benign
15	90794160	CT	C	T90794164A	BLM	NM_000057.4(BLM):c.3020-3del	noncoding	Benign
15	90794247	AC	A	C90794248G	BLM	NM_000057.4(BLM):c.3101del:p.Thr1034fs	coding	Pathogenic
15	90794305	A	AT	G90794311T	BLM	NM_000057.4(BLM):c.3163dup:p.Cys1055fs	coding	Pathogenic
15	90794393	AT	A	T90794401C	BLM	NM_000057.4(BLM):c.3210+44del	noncoding	Benign/Likely_benign
15	90798199	A	AG	C90798200G	BLM	NM_000057.4(BLM):c.3220_3221insG:p.Thr1074fs	coding	Pathogenic
15	90798200	CAA	C	A90798201G	BLM	NM_000057.4(BLM):c.3222_3223del:p.Asp1076fs	coding	Pathogenic/Likely_pathogenic
15	90803400	C	CA	G90803401A	BLM	NM_000057.4(BLM):c.3359-121_3359-120insA	noncoding	Benign/Likely_benign
15	90803526	AAG	A	A90803529T	BLM	NM_000057.4(BLM):c.3367_3368del:p.Ser1123fs	coding	Pathogenic
15	90803583	A	TTTTT	A90803583T	BLM	NM_000057.4(BLM):c.3421delinsTTTTT:p.Asn1141fs	coding	Pathogenic
15	90803698	CTG	C	G90803700A	BLM	NM_000057.4(BLM):c.3538_3539del:p.Val1180fs	coding	Pathogenic
15	90804194	AG	A	G90804195C	BLM	NM_000057.4(BLM):c.3587del:p.Ser1196fs	coding	Pathogenic
15	90804202	GA	G	A90804208C	BLM	NM_000057.4(BLM):c.3600del:p.Lys1200fs	coding	Pathogenic
15	90804223	AG	A	G90804224C	BLM	NM_000057.4(BLM):c.3616del:p.Ala1206fs	coding	Pathogenic
15	90804245	GA	G	A90804246G	BLM	NM_000057.4(BLM):c.3638del:p.Glu1213fs	coding	Pathogenic/Likely_pathogenic
15	90804274	T	TA	C90804276A	BLM	NM_000057.4(BLM):c.3667dup:p.Thr1223fs	coding	Pathogenic/Likely_pathogenic
15	90804286	C	CA	T90804290A	BLM	NM_000057.4(BLM):c.3681dup:p.Ser1228fs	coding	Pathogenic
15	90809136	GA	G	A90809138T	BLM	NM_000057.4(BLM):c.3753del:p.Glu1251fs	noncoding	Pathogenic/Likely_pathogenic
15	90809138	ATCTT	A	C90809140A	BLM	NM_000057.4(BLM):c.3755_3758del:p.Ser1252fs	coding	Pathogenic
15	90809228	AT	A	T90809230A	BLM	NM_000057.4(BLM):c.3845del:p.Leu1282fs	coding	Pathogenic
15	90809238	TACTC	T	A90809239T	BLM	NM_000057.4(BLM):c.3854_3857del:p.Tyr1285fs	coding	Pathogenic
15	90809242	CTGAA	C	A90809245G	BLM	NM_000057.4(BLM):c.3860_3863del:p.Glu1287fs	coding	Pathogenic
15	90809253	TC	T	C90809254G	BLM	NM_000057.4(BLM):c.3869del:p.Ser1290fs	coding	Pathogenic
15	90811220	CA	C	A90811221G	BLM	NM_000057.4(BLM):c.3891del:p.Gly1298_Ile1299insTer	coding	Pathogenic/Likely_pathogenic
15	90815038	A	AGAG	A90815044G	BLM	NM_000057.4(BLM):c.4077-61_4077-59dup	noncoding	Benign
15	90815041	G	GGAA	G90815046A	BLM	NM_000057.4(BLM):c.4077-59_4077-57dup	noncoding	Benign/Likely_benign
15	90949635	C	CA	C90949637A	UNC45A	NM_018671.5(UNC45A):c.2007-18dup	noncoding	Benign
15	90949645	TC	T	C90949649A	UNC45A	NM_018671.5(UNC45A):c.2007-5del	noncoding	Benign
15	90999251	GT	G	T90999253A	VPS33B	NM_018668.5(VPS33B):c.1775-198del	noncoding	Benign
15	91000051	CTG	C	G91000053C	VPS33B	NM_018668.5(VPS33B):c.1582-78_1582-77del	noncoding	Benign
15	91000400	T	TA	C91000414A	VPS33B	NM_018668.5(VPS33B):c.1581+77dup	noncoding	Benign
15	91000561	T	TC	A91000563C	VPS33B	NM_018668.5(VPS33B):c.1509dup:p.Lys504fs	coding	Pathogenic
15	91001309	CAA	C	A91001326G	VPS33B	NM_018668.5(VPS33B):c.1479+78_1479+79del	noncoding	Benign
15	91001309	CA	C	A91001327G	VPS33B	NM_018668.5(VPS33B):c.1479+79del	noncoding	Benign
15	91001309	C	CA	G91001328A	VPS33B	NM_018668.5(VPS33B):c.1479+62dup	noncoding	Benign
15	91002857	T	TA	T91002860A	VPS33B	NM_018668.5(VPS33B):c.1272+226dup	noncoding	Benign
15	91006281	TGGGGCCCACAGCCTGGTATAAGCAG	T	G91006307T	VPS33B	NM_018668.5(VPS33B):c.852+66_852+90del	noncoding	Benign
15	91009812	CCC	TCT	C91009812T	VPS33B	NM_018668.5(VPS33B):c.390_392delinsAGA:p.Gly131Glu	coding	Pathogenic
15	91014219	CA	C	A91014242G	VPS33B	NM_018668.5(VPS33B):c.289+164del	noncoding	Benign
15	91014219	C	CA	G91014243A	VPS33B	NM_018668.5(VPS33B):c.289+142dup	noncoding	Benign
15	92929090	CAGTA	C	A92929094C	CHD2	NM_001271.4(CHD2):c.443+3_443+6del	coding	Pathogenic
15	92937275	G	GA	G92937282A	CHD2	NM_001271.4(CHD2):c.444-237dup	noncoding	Benign
15	92937536	ACCCTCAGA	GATGAACAGG	A92937536G	CHD2	NM_001271.4(CHD2):c.462_470delinsGATGAACAGG:p.Pro155fs	coding	Pathogenic
15	92937588	C	CA	G92937597A	CHD2	NM_001271.4(CHD2):c.522dup:p.Val175fs	coding	Pathogenic
15	92939677	T	TC	A92939681C	CHD2	NM_001271.4(CHD2):c.654dup:p.Lys219fs	coding	Pathogenic
15	92942648	T	TG	T92942651G	CHD2	NM_001271.4(CHD2):c.827-193dup	noncoding	Benign
15	92942953	GGTTGGTCTTAC	G	G92942954A	CHD2	NM_001271.4(CHD2):c.938_948del:p.Gly313fs	coding	Pathogenic
15	92942989	GA	G	A92942991T	CHD2	NM_001271.4(CHD2):c.975del:p.Glu325fs	coding	Pathogenic
15	92943042	G	GA	G92943049A	CHD2	NM_001271.4(CHD2):c.1032dup:p.Glu345fs	coding	Pathogenic
15	92944517	TAAGTACATGGTAACTCA	T	A92944518C	CHD2	NM_001271.4(CHD2):c.1153+3_1153+19del	noncoding	Pathogenic
15	92945696	AT	A	T92945708C	CHD2	NM_001271.4(CHD2):c.1154-113del	noncoding	Benign
15	92946018	AT	A	T92946026A	CHD2	NM_001271.4(CHD2):c.1199-12del	noncoding	Benign/Likely_benign
15	92949031	AT	A	T92949033A	CHD2	NM_001271.4(CHD2):c.1459del:p.Tyr487fs	coding	Pathogenic
15	92949069	TG	T	G92949071T	CHD2	NM_001271.4(CHD2):c.1497del:p.Trp499fs	coding	Pathogenic
15	92953490	ACC	A	C92953491T	CHD2	NM_001271.4(CHD2):c.1637_1638del:p.Thr546fs	coding	Pathogenic
15	92955487	CAT	C	A92955490G	CHD2	NM_001271.4(CHD2):c.1787_1788del:p.Thr595_Tyr596insTer	coding	Pathogenic
15	92956460	CTG	C	T92956463C	CHD2	NM_001271.4(CHD2):c.1814_1815del:p.Val605fs	coding	Pathogenic
15	92956527	CTCTT	C	C92956529A	CHD2	NM_001271.4(CHD2):c.1880_1883del:p.Ser627fs	coding	Pathogenic
15	92956529	CT	C	T92956532A	CHD2	NM_001271.4(CHD2):c.1883del:p.Leu628fs	coding	Pathogenic
15	92971795	TG	T	G92971796C	CHD2	NM_001271.4(CHD2):c.2221del:p.Ala741fs	coding	Pathogenic
15	92971897	TGAAAG	T	A92971899G	CHD2	NM_001271.4(CHD2):c.2324_2328del:p.Glu775fs	coding	Pathogenic
15	92978241	GTTTCC	G	T92978243G	CHD2	NM_001271.4(CHD2):c.2587_2591del:p.Phe863fs	coding	Pathogenic
15	92978428	CA	C	A92978429G	CHD2	NM_001271.4(CHD2):c.2727+46del	noncoding	Benign
15	92979172	A	AG	A92979175G	CHD2	NM_001271.4(CHD2):c.2767dup:p.Glu923fs	coding	Pathogenic
15	92979231	C	CGCTG	A92979234T	CHD2	NM_001271.4(CHD2):c.2826_2827insTGGC:p.Met943fs	coding	Pathogenic
15	92980825	T	TTA	T92980827A	CHD2	NM_001271.4(CHD2):c.2888_2889insAT:p.Phe963fs	coding	Pathogenic
15	92984459	G	GA	T92984463A	CHD2	NM_001271.4(CHD2):c.3199dup:p.Ile1067fs	coding	Pathogenic
15	92985526	CTGAGT	GTGACTCTGA	C92985526G	CHD2	NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA:p.Thr1089fs	coding	Pathogenic
15	92985580	ACT	A	C92985583G	CHD2	NM_001271.4(CHD2):c.3323_3324del:p.Asp1107_Ser1108insTer	coding	Pathogenic
15	92985613	GGC	G	C92985615T	CHD2	NM_001271.4(CHD2):c.3355_3356del:p.Arg1119fs	coding	Pathogenic
15	92985670	GA	G	A92985672G	CHD2	NM_001271.4(CHD2):c.3412del:p.Arg1138fs	coding	Pathogenic
15	92993013	C	CT	A92993017T	CHD2	NM_001271.4(CHD2):c.3595+18dup	noncoding	Benign/Likely_benign
15	92996999	CCGGAGT	AAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG	C92996999A	CHD2	NM_001271.4(CHD2):c.3638_3644delinsAAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG:p.Ser1213_Val1215delinsTer	coding	Pathogenic
15	92997299	TGG	T	G92997304T	CHD2	NM_001271.4(CHD2):c.3786_3787del:p.Val1263fs	coding	Pathogenic
15	93002203	GAAAA	G	A93002209C	CHD2	NM_001271.4(CHD2):c.4170_4173del:p.Lys1390fs	coding	Pathogenic
15	93002203	G	GA	C93002213A	CHD2	NM_001271.4(CHD2):c.4173dup:p.Gln1392fs	coding	Pathogenic
15	93002213	CAG	C	G93002215A	CHD2	NM_001271.4(CHD2):c.4176_4177del:p.Lys1393fs	coding	Pathogenic
15	93002218	GAAGA	G	A93002223G	CHD2	NM_001271.4(CHD2):c.4184_4187del:p.Lys1395fs	coding	Pathogenic
15	93002269	CAAA	C	A93002270G	CHD2	NM_001271.4(CHD2):c.4231_4233del:p.Lys1411del	coding	Benign/Likely_benign
15	93004495	T	TC	T93004496C	CHD2	NM_001271.4(CHD2):c.4279-122_4279-121insC	noncoding	Benign
15	93004605	C	CT	A93004612T	CHD2	NM_001271.4(CHD2):c.4279-6dup	noncoding	Benign
15	93004641	TC	T	C93004642G	CHD2	NM_001271.4(CHD2):c.4304del:p.Ser1434_Ser1435insTer	coding	Pathogenic
15	93004685	AG	A	G93004687A	CHD2	NM_001271.4(CHD2):c.4349del:p.Gly1450fs	coding	Pathogenic
15	93020039	AG	A	G93020040T	CHD2	NM_001271.4(CHD2):c.4935del:p.Lys1645fs	coding	Pathogenic
15	93020052	T	TG	T93020055G	CHD2	NM_001271.4(CHD2):c.4949dup:p.Gly1651fs	coding	Pathogenic
15	93020143	CAT	C	A93020146G	CHD2	NM_001271.4(CHD2):c.5041_5042del:p.Met1681fs	coding	Pathogenic
15	93024158	T	TGTAC	T93024163G	CHD2	NM_001271.4(CHD2):c.5154-213_5154-210dup	noncoding	Benign
15	96334613	A	AGCCCT	T96334620C	NR2F2	NM_021005.4(NR2F2):c.970+12_970+16dup	noncoding	Benign
15	96337281	A	ATTC	T96337308C	NR2F2	NM_021005.4(NR2F2):c.971-66TTC[9]	noncoding	Benign
15	96337281	ATTC	A	C96337305T	NR2F2	NM_021005.4(NR2F2):c.971-66TTC[7]	noncoding	Benign
15	96337775	CA	C	A96337790G	NR2F2	NM_021005.4(NR2F2):c.*168del	noncoding	Benign
15	96337821	TAA	T	A96337835C	NR2F2	NM_021005.4(NR2F2):c.*213_*214del	noncoding	Benign
15	98922264	CAG	C	A98922267T	IGF1R	NM_000875.5(IGF1R):c.2321_2322del:p.Glu774fs	coding	Pathogenic
15	99712564	ACAACCCCCGCAGCCCCAGCCC	A	A99712566G	MEF2A	NM_001319206.4(MEF2A):c.1313_1333del:p.Gln438_Pro444del	coding	Pathogenic
15	99974227	TAAC	T	C99974230T	ADAMTS17	NM_139057.4(ADAMTS17):c.*172_*174del	noncoding	Benign/Likely_benign
15	99975879	A	AT	C99975881T	ADAMTS17	NM_139057.4(ADAMTS17):c.3127+165dup	noncoding	Benign
15	100096718	T	TGGA	G100096724A	ADAMTS17	NM_139057.4(ADAMTS17):c.2017-245_2017-243dup	noncoding	Benign
15	100109260	C	CCAGCTCCTCTAAACACGCGGCA	G100109264C	ADAMTS17	NM_139057.4(ADAMTS17):c.1889-145_1889-144insCTGTGCCGCGTGTTTAGAGGAG	noncoding	Benign
15	100152827	C	CT	G100152839T	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-76dup	noncoding	Benign
15	100152827	C	CTT	G100152839T	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-76_1323-75dup	noncoding	Benign
15	100152827	CT	C	T100152838G	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-66del	noncoding	Benign
15	100152953	C	CCAGTAG	A100152954C	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-192_1323-191insCTACTG	noncoding	Benign
15	100152955	AAT	A	A100152956G	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-195_1323-194del	noncoding	Benign
15	100152959	T	TA	G100152960A	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-198_1323-197insT	noncoding	Benign
15	100152969	C	CAAGGAACA	T100152970A	ADAMTS17	NM_139057.4(ADAMTS17):c.1323-208_1323-207insTGTTCCTT	noncoding	Benign
15	100262447	GA	G	A100262453G	ADAMTS17	NM_139057.4(ADAMTS17):c.790-13del	noncoding	Benign
15	100262447	G	GA	G100262454A	ADAMTS17	NM_139057.4(ADAMTS17):c.790-13dup	noncoding	Benign
15	100281352	CCGCT	C	G100281354C	ADAMTS17	NM_139057.4(ADAMTS17):c.662_665del:p.Glu221fs	coding	Pathogenic
15	100340777	A	AC	A100340782C	ADAMTS17	NM_139057.4(ADAMTS17):c.450+258dup	noncoding	Benign
15	100455871	AT	A	T100455872A	CERS3	NM_001378789.1(CERS3):c.999+21del	noncoding	Benign
15	100479766	CTG	C	G100479768A	CERS3	NM_001378789.1(CERS3):c.465+221_465+222del	noncoding	Benign
15	100484240	AT	A	T100484246C	CERS3	NM_001378789.1(CERS3):c.407+309del	noncoding	Benign
15	100490949	G	GA	G100490957A	CERS3	NM_001378789.1(CERS3):c.174-19dup	noncoding	Benign
15	100491122	T	TA	C100491133A	CERS3	NM_001378789.1(CERS3):c.174-201dup	noncoding	Benign
15	100569122	CAAAA	C	A100569137G	LINS1	NM_001040616.3(LINS1):c.*112_*115del	noncoding	Benign
15	100569122	C	CAA	G100569141A	LINS1	NM_001040616.3(LINS1):c.*114_*115dup	noncoding	Benign
15	100569122	C	CA	G100569141A	LINS1	NM_001040616.3(LINS1):c.*115dup	noncoding	Benign
15	100570167	AAC	A	C100570169G	LINS1	NM_001040616.3(LINS1):c.1395-52_1395-51del	noncoding	Benign
15	100573495	C	CT	G100573510T	LINS1	NM_001040616.3(LINS1):c.1222+142dup	noncoding	Benign
15	100574277	AAC	A	C100574279G	LINS1	NM_001040616.3(LINS1):c.632-38_632-37del	noncoding	Benign
15	100885655	C	CT	A100885672T	ALDH1A3	NM_000693.4(ALDH1A3):c.204+300dup	noncoding	Benign
15	100885655	C	CTT	A100885672T	ALDH1A3	NM_000693.4(ALDH1A3):c.204+299_204+300dup	noncoding	Benign
15	100892597	GCAGGGTGGGCAGACAAAATC	G	T100892603C	ALDH1A3	NM_000693.4(ALDH1A3):c.439_458del:p.Trp147fs	coding	Pathogenic
15	100894365	A	AG	T100894373G	ALDH1A3	NM_000693.4(ALDH1A3):c.666+290dup	noncoding	Benign
15	100908456	TA	T	A100908460T	ALDH1A3;ALDH1A3-AS1	NM_000693.4(ALDH1A3):c.1444del:p.Met482fs	coding	Pathogenic
15	101014302	C	CCT	A101014314T	LRRK1	NM_024652.6(LRRK1):c.1420-13CT[6]	noncoding	Benign
15	101049623	CT	C	T101049627G	LRRK1	NM_024652.6(LRRK1):c.3300-17del	noncoding	Benign
15	101051886	C	CCCCAGACACCCGGA	T101051903C	LRRK1	NM_024652.6(LRRK1):c.3618_3631dup:p.Leu1211fs	coding	Pathogenic
15	101061162	C	CACTT	A101061169T	LRRK1	NM_024652.6(LRRK1):c.4680-6_4680-3dup	noncoding	Benign
15	101061280	GCCACCGAGGTAAGCACTGCCCGCAGGCCTGC	G	G101061302A	LRRK1	NM_024652.6(LRRK1):c.4797+14_4797+44del	coding	Benign
15	101066684	GC	AA	G101066684A	LRRK1	NM_024652.6(LRRK1):c.5813_5814delinsAA:p.Gly1938Glu	coding	Benign
15	101068737	AGAGTGGT	A	A101068739C	LRRK1	NM_024652.6(LRRK1):c.5939_5945del:p.Glu1980fs	coding	Pathogenic
15	101068770	C	CG	C101068772G	LRRK1	NM_024652.6(LRRK1):c.5971dup:p.Ala1991fs	coding	Pathogenic
15	101178990	G	GA	G101178999A	CHSY1	NM_014918.5(CHSY1):c.817-11dup	noncoding	Benign
15	101234930	AT	A	T101234940A	CHSY1	NM_014918.5(CHSY1):c.816+151del	noncoding	Benign
15	101251372	GCAGGACGAGCCGCGAGGCCAGCACGAAGCC	G	G101251384C	CHSY1	NM_014918.5(CHSY1):c.55_84del:p.Gly19_Leu28del	coding	Pathogenic
15	101251479	G	GGCCGCCGCCGCCGCCGCC	A101251491C	CHSY1	NM_014918.5(CHSY1):c.-32GGC[9]	noncoding	Benign
15	101252079	CA	C	A101252092G	CHSY1	Single_allele	noncoding	Benign
15	101252079	C	CAA	G101252093A	CHSY1	Single_allele	noncoding	Benign
16	88773	A	AG	C88776G	NPRL3	NM_001077350.3(NPRL3):c.1468dup:p.Leu490fs	coding	Benign
16	88774	G	GC	G88775C	NPRL3	NM_001077350.3(NPRL3):c.1467_1468insG:p.Leu490fs	coding	Pathogenic
16	89885	C	CA	T89887A	NPRL3	NM_001077350.3(NPRL3):c.1178dup:p.Met393fs	coding	Pathogenic
16	92607	CG	C	G92612C	HBA-LCR;NPRL3	NM_001077350.3(NPRL3):c.1149del:p.Ala384fs	coding	Pathogenic
16	92724	AC	A	C92726T	NPRL3	NC_000016.9:g.142723del	coding	Pathogenic
16	100370	AC	A	C100372G	NPRL3	NM_001077350.3(NPRL3):c.767+1del	noncoding	Pathogenic
16	100412	T	TC	A100414C	NPRL3	NM_001077350.3(NPRL3):c.726dup:p.Ile243fs	coding	Pathogenic
16	100779	CTAA	C	T100783C	NPRL3	NM_001077350.3(NPRL3):c.630-273_630-271del	noncoding	Benign
16	110309	CA	C	A110318C	NPRL3	NM_001077350.3(NPRL3):c.629+215del	noncoding	Benign
16	110531	TA	T	A110533G	NPRL3	NM_001077350.3(NPRL3):c.622del:p.Tyr208fs	coding	Pathogenic
16	110584	TG	T	G110588A	HBA-LCR;NPRL3	NM_001077350.3(NPRL3):c.569del:p.Pro190fs	coding	Pathogenic
16	112650	G	GA	G112652A	NPRL3	NM_001077350.3(NPRL3):c.518dup:p.Gln174fs	coding	Pathogenic
16	112749	G	GT	A112753T	NPRL3	NM_001077350.3(NPRL3):c.419dup:p.Asn140fs	coding	Pathogenic
16	113086	GAAC	G	C113092T	NPRL3	NM_001077350.3(NPRL3):c.394-314_394-312del	noncoding	Benign
16	119163	AC	A	C119164A	NPRL3	NM_001077350.3(NPRL3):c.280del:p.Val94fs	coding	Pathogenic
16	119185	TC	T	C119186A	NPRL3	NM_001077350.3(NPRL3):c.258del:p.Lys87fs	coding	Pathogenic
16	130407	AAAAC	A	A130413C	NPRL3	NM_001077350.3(NPRL3):c.188+111_188+114del	noncoding	Benign
16	138252	TG	T	G138254T	NPRL3	NM_001077350.3(NPRL3):c.15del:p.Ser6fs	coding	Pathogenic
16	138290	GGGCGGAGGGGGCCAGAGGAGGACGGAGCCGGA	G	A138304T	NPRL3	NM_001039476.3(NPRL3):c.-387_-356del	noncoding	Benign
16	138304	AGAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT	A	G138347A	NPRL3	NM_001077350.3(NPRL3):c.-67-2_-38del	noncoding	Benign
16	138399	TGAG	T	A138404G	NPRL3	NM_001077350.3(NPRL3):c.-67-68_-67-66del	noncoding	Benign
16	138835	GC	G	C138839T	NPRL3	Single_allele	noncoding	Benign
16	138839	CT	C	T138840C	NPRL3	Single_allele	noncoding	Benign
16	172870	GCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGC	G	T173384G	HBA1;HBA2;LOC106804612;LOC106804613	NC_000016.9:g.223300_227103del	noncoding	Pathogenic
16	172965	TC	T	C172966G	HBA2	NM_000517.6(HBA2):c.54del:p.Gly19fs	coding	Pathogenic
16	173171	GA	G	A173172C	HBA2	NM_000517.6(HBA2):c.143del:p.Asp48fs	coding	Pathogenic
16	173239	C	CT	G173240T	HBA2	NM_000517.6(HBA2):c.210_211insT:p.Val71fs	coding	Pathogenic
16	177024	CCGACGCGCTGACCAACGCCGTGGCGCACGTGGA	C	G177029A	HBA1	NM_000558.5(HBA1):c.196_228del:p.Ala66_Asp76del	coding	Pathogenic
16	177111	G	GGGTGGACCCGGTCAACTTCAA	A177137G	HBA1	NM_000558.5(HBA1):c.283_300+3dup	coding	Pathogenic
16	177307	AC	A	C177310T	HBA1	NM_000558.5(HBA1):c.328del:p.Leu110fs	coding	Pathogenic/Likely_pathogenic
16	177338	CCCCTG	C	C177340G	HBA1	NM_000558.5(HBA1):c.358_362del:p.Pro120fs	coding	Pathogenic
16	346747	CAGCA	C	A346748G	AXIN1	NM_003502.4(AXIN1):c.275_278del:p.Leu92fs	coding	Pathogenic
16	346753	GGAATGCAGTGACT	G	G346754C	AXIN1	NM_003502.4(AXIN1):c.260_272del:p.Glu87fs	coding	Pathogenic
16	552770	AGGTGGGTGGGGGTCCCGGGGGAGGGTGGCGTGGGGCAGGGGGAGTAT	A	G552772C	CAPN15	NM_005632.3(CAPN15):c.2904+1_2905-45del	coding	Pathogenic
16	574122	C	CGGGCTGCTGGTGGGACGGT	T574145C	PIGQ	NM_004204.5(PIGQ):c.52_70dup:p.Val24fs	coding	Pathogenic
16	574162	GCCGTGGTCCTGGCGGT	G	G574165T	PIGQ	NM_004204.5(PIGQ):c.91_106del:p.Val31fs	coding	Pathogenic
16	574234	CAGGCCAGCCAGGTG	C	A574235G	PIGQ	NM_004204.5(PIGQ):c.161_174del:p.Gln54fs	coding	Pathogenic
16	574522	CG	C	G574523C	PIGQ	NM_004204.5(PIGQ):c.449del:p.Arg150fs	coding	Pathogenic
16	574622	AG	A	G574625C	PIGQ	NM_004204.5(PIGQ):c.551del:p.Gly184fs	coding	Pathogenic
16	574690	AG	A	G574692C	PIGQ	NM_004204.5(PIGQ):c.618del:p.Arg206fs	coding	Pathogenic
16	575878	ACT	A	T575882C	PIGQ	NM_004204.5(PIGQ):c.733_734del:p.Ser245fs	coding	Pathogenic
16	578403	CTG	C	T578404C	PIGQ	NM_004204.5(PIGQ):c.968_969del:p.Leu323fs	coding	Pathogenic
16	578911	TCTA	T	A578914G	PIGQ	NM_004204.5(PIGQ):c.1199_1201del:p.Tyr400del	coding	Pathogenic/Likely_pathogenic
16	579427	CCTAGAGGTGCCCCGGGCCCAGAGACTAGAGATGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGA	C	A579447G	PIGQ	NM_004204.5(PIGQ):c.1335+267_1335+338del	noncoding	Benign
16	582230	CG	C	G582231C	PIGQ	NM_004204.5(PIGQ):c.1532-17del	noncoding	Benign
16	582293	TCC	T	C582294G	PIGQ	NM_004204.5(PIGQ):c.1578_1579del:p.Arg527fs	coding	Pathogenic
16	679945	TGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTG	T	G679958T	STUB1	Single_allele	noncoding	Benign
16	679958	GGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCT	G	T679981G	STUB1	Single_allele	noncoding	Benign
16	682023	AAG	A	A682024T	JMJD8;STUB1	NM_005861.4(STUB1):c.617_618del:p.Lys206fs	coding	Pathogenic
16	682181	ACTAC	A	A682184G	STUB1	NM_005861.4(STUB1):c.689_692del:p.Tyr230fs	coding	Pathogenic/Likely_pathogenic
16	682287	GC	G	C682289T	STUB1	NM_001005920.4(JMJD8):c.*506del	coding	Benign
16	682364	CGT	C	T682368G	STUB1	NM_005861.4(STUB1):c.791_792del:p.Val264fs	coding	Pathogenic
16	682394	A	AGC	C682397G	STUB1	NM_005861.4(STUB1):c.818_819dup:p.Pro274fs	coding	Pathogenic
16	723291	GC	G	C723299G	CCDC78	NM_001378030.1(CCDC78):c.1134-131del	noncoding	Benign
16	723313	G	GC	A723322C	CCDC78	NM_001378030.1(CCDC78):c.1134-160dup	noncoding	Benign
16	724045	TGGGGCAGTGGGTGGGTGG	T	G724052C	CCDC78	NM_001378030.1(CCDC78):c.1053+43_1053+60del	noncoding	Benign
16	724306	TC	T	C724309A	CCDC78	NM_001378030.1(CCDC78):c.953+15del	noncoding	Benign
16	724691	CA	TG	C724691T	CCDC78	NM_001378030.1(CCDC78):c.754_755inv:p.Trp252Gln	coding	Benign/Likely_benign
16	868776	C	CG	C868789G	LMF1	NM_022773.4(LMF1):c.1529+156dup	noncoding	Benign
16	868776	CG	C	G868788C	LMF1	NM_022773.4(LMF1):c.1529+167del	noncoding	Benign
16	868776	CGG	C	G868787C	LMF1	NM_022773.4(LMF1):c.1529+166_1529+167del	noncoding	Benign
16	879844	AG	A	G879846A	LMF1	NM_022773.4(LMF1):c.730-108del	noncoding	Benign
16	893317	C	CT	G893321T	LMF1	NM_022773.4(LMF1):c.664-248dup	noncoding	Benign
16	1153321	CGGGCCGGGGGCGGAGGCGCTGGGGGCCGGGGCCG	C	G1153364C	CACNA1H	NM_021098.3(CACNA1H):c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1]	noncoding	Benign
16	1154051	CGGCGGGGGGCGGGGGGCGGGG	C	G1154056T	CACNA1H	NM_021098.3(CACNA1H):c.299+20_299+40del	noncoding	Benign/Likely_benign
16	1200706	G	GC	A1200714C	CACNA1H	NM_021098.3(CACNA1H):c.1120-3dup	noncoding	Benign
16	1207132	TC	T	C1207136G	CACNA1H	NM_021098.3(CACNA1H):c.2907+18del	noncoding	Benign
16	1212150	CCGGTGG	C	T1212166G	CACNA1H	NM_021098.3(CACNA1H):c.4759+13CGGTGG[2]	noncoding	Benign
16	1215516	G	GC	T1215520C	CACNA1H	NM_021098.3(CACNA1H):c.5174-4dup	noncoding	Benign
16	1216803	C	CT	C1216804T	CACNA1H	NM_021098.3(CACNA1H):c.5245-129_5245-128insT	noncoding	Benign
16	1219145	TG	T	G1219147C	CACNA1H	NM_021098.3(CACNA1H):c.6048+17del	noncoding	Benign
16	1219789	TCA	T	C1219792G	CACNA1H	NM_021098.3(CACNA1H):c.6049-189_6049-188del	noncoding	Benign
16	1352136	GGT	G	T1352138G	GNPTG	NM_032520.5(GNPTG):c.89_90del:p.Val30fs	coding	Pathogenic
16	1361744	A	AC	G1361748C	GNPTG	NM_032520.5(GNPTG):c.183dup:p.Val62fs	coding	Pathogenic
16	1361752	A	ATCTC	T1361758C	GNPTG	NM_032520.5(GNPTG):c.190_193dup:p.Phe65fs	coding	Pathogenic
16	1362008	GCCTCACGTGCCGTGCCCGTGTCTCCCCAGCATCTGGCACGAGTGGGAGATCGCCAACAACAC	G	C1362010T	GNPTG	NM_032520.5(GNPTG):c.318-28_351del	noncoding	Pathogenic
16	1362101	CGCCTGCCGTTCCCGGA	C	T1362105G	GNPTG	NM_032520.5(GNPTG):c.385_400del:p.Cys129fs	coding	Pathogenic
16	1362133	T	TG	C1362138G	GNPTG	NM_032520.5(GNPTG):c.411+6dup	noncoding	Benign
16	1362199	TC	T	C1362203A	GNPTG	NM_032520.5(GNPTG):c.412-3del	noncoding	Benign
16	1362199	T	TC	A1362204C	GNPTG	NM_032520.5(GNPTG):c.412-3dup	noncoding	Benign
16	1362205	GGTGGAGCTGGCGT	G	G1362211A	GNPTG	NM_032520.5(GNPTG):c.417_429del:p.Leu140fs	noncoding	Pathogenic
16	1362303	AC	A	C1362308A	GNPTG	NM_032520.5(GNPTG):c.514del:p.His172fs	coding	Pathogenic
16	1362494	AG	A	G1362496T	GNPTG	NM_032520.5(GNPTG):c.571del:p.Gln190_Val191insTer	coding	Pathogenic
16	1362524	T	TCA	C1362528A	GNPTG	NM_032520.5(GNPTG):c.601_602dup:p.Gln203fs	coding	Pathogenic
16	1362635	CTT	C	T1362639G	GNPTG	NM_032520.5(GNPTG):c.638_639del:p.Leu212_Phe213insTer	coding	Pathogenic
16	1362657	T	TA	G1362661A	GNPTG	NM_032520.5(GNPTG):c.659dup:p.Thr221fs	coding	Pathogenic
16	1362662	A	AC	A1362667C	GNPTG	NM_032520.5(GNPTG):c.665dup:p.Glu223fs	coding	Pathogenic
16	1362715	GT	G	T1362718G	GNPTG	NM_032520.5(GNPTG):c.717del:p.Phe239fs	coding	Pathogenic
16	1362830	TAAAG	T	A1362833C	GNPTG	NM_032520.5(GNPTG):c.750_753del:p.Lys250fs	coding	Pathogenic
16	1430848	GCCCGGGGGCGAGCCAGCTGCGCCTGCACAAACACTCCACGGTCCCCAGGCAGGCCGCGTGCAGGTGAGGCGGGGGGCGTGCTCCCCCCTCGGGGCCCTGGTTGCCGGGCGCTAAAGCAAACGGGCTCTATTTGCCCAGTCTGCGATGACAATGCTGTCGCCAAATATTTGCCAGCCCCTGGCGGCTGCAGAGCGCGGCTATAAATGCTTGTGTCCGGGTGAAGGTCTGCCTGTGGAGCAAGAGCTGTCGGCCCCGGCCAGGTAGGAGCCAGGGCCTGGGGGAGGCAGACGCTGCTGGGGACACCACAGCACTGGGGATCTGGAGTCTGTGAGTCCTGCCCAGGGCTCTGTGGGGAGCACCCACCCCTGGGAGAGACCCCCAGACCACTGGGCAGGCCCAGGACTGGGCCGGCATTGGGGCAGACAGGCCGCCATGGGAGGGCACCTGCATCTGGGCTGTCCGTGAGCAGTCAGCCCCAAAGTCCAGCGCTCAGGACACTGGATGCCTCCTGCGAGGGGGACCCCAGTACTTCAGTGAGATCAGGACCACAGCTGGGCAGGCCAGGGTCGGGAGGCCTCGCAGTTCACCTCCCCGACAGCCAGCGGGGAAACATCCTGACCCCGAGGAAAGCCTGTCCCAGAGCCGTGGATGCTCCCCACAGTCCTGCCCGCTCCCCACAGCCCTTCCTACTCCCCGCAACACCCCTCCCTCCCTGAAGCCCTCCCCCATCCCCAAAGCCCTCCTCCCTCCCTCCGCCCTCCTGCCACAGGCTCCGGACAAGATGGGTTCAGGCTACCTGACCCCAGGGGCACCCACGTGTCCCCTCGAGGAGGGGCTGGGCAGCCCTTGTCTGTGTGGTGGGCACTACCTGGCAGCTGGCCCAGAGGAGAGCTGCACCCACCCCACAGTCCCCATCCAGATACCCTCCTGCCAGGCCCCTGACCCAGATACCTCACTTGAGTCGTCCTGGCCAGGTGCAGTGGCCCCTGGAGCCCACCCCTGCAGGGACCTCCCACCCCAGCCGCCTTCACCATCGTGGAGACTTCCTAGTTAGGACCACTGGGGTGCTGCCTCCCGCTCCCTTGGGACTGTGATGGCCGGAAGAACCCCACGGGGGCTGCACGGGCTCTGGGCTCAGTTACAGTGACGCCTCCACTTTGATCAAGAGCCATGGAGCCCCTGGTTCTGACCCACAGCAGCCCCAGCCCGGGACCCAGCTCCGGCTCAGCAGCGCCAGCACCCCTGCCCTGGCCTGCAGGGATCCCTGTTCCCCTGCCTGGCTTCTCGAGGTCCCTTCCCCAGGGCCTGCCCTCTCCTGCCCAGCGTCCTCCCCTCCCAAGTGACCACAATTCTAGTGTCCCCACAATGTCCCCATGTCCCCAACTGCCCCCCACGACAGGACCCCACTGCTCCCACCCAGTCACCATCCTGGGCCAGCCGTCCAGCAGGTCTCACAGCACCCCCTGGCCGGCCATCCCCCTCATGCCACGGCCATGCGGCCACAGTGCCCACCCCATCTCTCTCCATGCCTCACTCCTGTGGCAATCCGTGCCCTCGACAAGCACAACTGGGCACCCAGGAGCGGAGGAAGGTCTCTGCGGGAGGCCACAGATGTGTGAGATCCGAGGGCAGCAGTCGAGGGCGGCGGGGGCATGGCCAGGCCTGACAGGGAACCTGCCCCTCTGTCTCCCTCCCCAGCCAGCGCCTGCTGCCCCGGAGGCCCCAGAAGCGTGGGACGCGCGGAGATGGCCGCCGGTGTGATCCGGCCCCTGTGCGACTTCCAGCTGCCCCTGCTGCGCCACCACCCCTTCCTGCCCTCAGATCCGGAGCCCCCAGAGACTTCGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGCGAGGGCGAGGGGCTGGGGGGCTGCGGCCGGATCCTCCCGAGCTCAGGCCGGGCAGAGGCCACGGAGGAAGCAGCCCCCGAGGGTCCCGGCAGCCCCGAGACCCCGCTGCAGCTGCTACGCTTTTCAGAGCTCATCAGCGACGACATCCGGCGGTACTTTGGCCGCAAGGATAAGGGGCAGGACCCAGATGCCTGCGACGTCTACGCCGACAGCCGCCCACCCCGCAGCACTGCCCGGGAGCTCTACTATGCGGACCTGGTGCGCCTGGCCCGTGGCGGGTCCCTGGAGGACGAGGACACCCCGGAGCCCAGGGTACCCCAAGGGCAGGTGTGCAGGCCGGGCCTCAGCGGGGACAGGGCGCAGCCCCTGGGACCCCTGGCCGAGCTCTTCGACTACGGGCTGCAGCAGTACTGGGGGTCCAGGGCAGCGGCCGGCTGGAGCCTGACGCTGGAGCGGAAGTACGGCCACATCACCCCCATGGCCCAGAGGAAGCTGCCCCCATCCTTCTGGAAGGAGCCGACCCCTAGCCCCCTGGGCCTGCTGCACCCTGGCACGCCGGACTTCAGCGACCTGCTGGCCAGCTGGTCAACCGAGGCCTGTCCTGAGCTGCCCGGCAGGGGAACCCCAGCCCTGGAAGGGGCACGGCCAGCCGAGGCCTAGCGAAGCGCCGGGGTCAGAGCTAGCTGGCGGCAGCAGGGCCACCCCTAAGGCACTGGACTCTCCTCCCATCCTCCTGGGAAGAGCCTCCTCCGTCCCTCGCGGCCACCACAGGGCAAACCCAGAGGTCACCAGGGCTGGGCTGCAGTGGGAGCAGCAAGGGTGGTGCCCAGACCTGGCCATGCCCTGGCCTTCAGCCCCAGCAGAGCCCCTGGAGGGGCACAGGGGCCCCCAGAGCCCTGCCCACAGAAAAGGGAGGCTTGAGCTCAAGGGGCTCCACCCACCAGGGCCCCCAGGTGAGGCTGAGGGCCCAGCCCCAGAGATTCCAGGTGAGCAGCAAGGGGCGGTGGAGGACAGAGCCCCCCGAGCCAGCCCTCCCACTGCCTGCCCATCCCACCGAACCCCTAGGACTAAGCGGCCCGGAACCTGTGGCCCCTCCCCTGAGCCCCCGGCAGCAGACGGCAGGGCCGGCGACCGCGGGATGAGCGAGGGCTTTCTTGGAGAGGCAGGAAGAGGGGCCCACTGCCCGACCGAGAGAGCAAACAAGGGCCGTCTC	G	C1430850T	PERCC1	NC_000016.9:g.1480850_1483951del	noncoding	Pathogenic
16	1447656	TTGTGCTTTAGGAGAACGAT	A	T1447656A	CLCN7	NM_001287.6(CLCN7):c.2053_2072delinsT:p.Ile685fs	coding	Pathogenic
16	1447661	CT	C	T1447664A	CLCN7	NM_001287.6(CLCN7):c.2066del:p.Lys689fs	coding	Pathogenic
16	1450328	C	CAGGACAACGCCCACGGCCCGTGAACCACGCG	T1450389C	CLCN7	NM_001287.6(CLCN7):c.1617+138_1617+168dup	noncoding	Benign
16	1450707	G	GC	T1450710C	CLCN7	NM_001287.6(CLCN7):c.1448-43dup	noncoding	Benign
16	1451645	C	CA	C1451647A	CLCN7	NM_001287.6(CLCN7):c.1424dup:p.Ser476fs	coding	Pathogenic
16	1457328	T	TCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACG	G1457357A	CLCN7	NC_000016.9:g.1507329_1507330insCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGACG	coding	Pathogenic
16	1464966	G	GC	A1464974C	CLCN7	NM_001287.6(CLCN7):c.213+294dup	noncoding	Benign
16	1474773	G	GGCGC	G1474779C	CLCN7	NM_001287.6(CLCN7):c.141+57GC[4]	noncoding	Benign
16	1474926	CG	C	G1474927T	CLCN7	NM_001287.6(CLCN7):c.48del:p.Asp16fs	coding	Pathogenic
16	1494300	GA	CG	G1494300C	TELO2	NM_016111.4(TELO2):c.19_20delinsCG:p.Glu7Arg	coding	Benign
16	1499342	GC	G	C1499344A	TELO2	NM_016111.4(TELO2):c.933+11del	noncoding	Benign
16	1520311	CGT	C	G1520314C	IFT140	NM_014714.4(IFT140):c.3691_3692del:p.Thr1231fs	coding	Pathogenic
16	1520330	AGC	A	G1520333C	IFT140	NM_014714.4(IFT140):c.3672_3673del:p.Leu1225fs	coding	Pathogenic
16	1520772	TG	T	G1520773T	IFT140	NM_014714.4(IFT140):c.3489del:p.Asn1163fs	coding	Pathogenic
16	1523561	CTG	C	T1523564C	IFT140	NM_014714.4(IFT140):c.3408_3409del:p.His1136fs	coding	Pathogenic
16	1523844	A	ACCGC	T1523851G	IFT140	NM_014714.4(IFT140):c.3250_3253dup:p.Val1085fs	coding	Pathogenic/Likely_pathogenic
16	1524832	GT	G	T1524833C	IFT140	NM_014714.4(IFT140):c.2948del:p.Asp983fs	coding	Pathogenic
16	1525983	AC	A	C1525985T	IFT140	NM_014714.4(IFT140):c.2671del:p.Gln890_Val891insTer	coding	Pathogenic
16	1558116	CTCTG	C	T1558121C	IFT140	NM_014714.4(IFT140):c.2214_2217del:p.Asp738fs	coding	Pathogenic
16	1564058	G	GTCTCCTGCACGGCT	G1564075T	IFT140	NM_014714.4(IFT140):c.1992_2005dup:p.Thr669fs	coding	Pathogenic
16	1566266	A	AT	G1566271T	IFT140	NM_014714.4(IFT140):c.1795dup:p.Ile599fs	coding	Pathogenic
16	1583323	G	GTT	A1583325T	IFT140;LOC105371046	NM_014714.4(IFT140):c.1422_1423insAA:p.Arg475fs	coding	Pathogenic
16	1584214	CACC	GT	C1584214G	IFT140	NM_014714.4(IFT140):c.1359_1359+3delinsAC	noncoding	Pathogenic
16	1592475	A	AG	A1592482G	IFT140	NM_014714.4(IFT140):c.482dup:p.Pro162fs	coding	Pathogenic
16	1607033	CAT	C	A1607034G	IFT140	NM_014714.4(IFT140):c.147+85_147+86del	noncoding	Benign
16	1607212	AG	A	G1607215T	IFT140	NM_014714.4(IFT140):c.54del:p.Ser19fs	coding	Pathogenic
16	1772796	C	CACCT	G1772801A	MRPS34	NM_023936.2(MRPS34):c.320_321+2dup	noncoding	Benign
16	1839351	GAGAA	G	A1839355C	MEIOB	NM_001163560.3(MEIOB):c.1118_1121del:p.Phe373fs	coding	Pathogenic
16	1984011	G	GCCCGGCCCCGC	A1984019C	GFER	Single_allele	noncoding	Benign
16	2040051	TG	T	G2040056T	NTHL1	NM_002528.7(NTHL1):c.792-5del	noncoding	Benign
16	2040057	TG	T	G2040062C	NTHL1	NM_002528.7(NTHL1):c.792-11del	noncoding	Benign
16	2040114	G	GC	A2040121C	NTHL1	NM_002528.7(NTHL1):c.791+18dup	noncoding	Benign
16	2040197	AC	A	C2040199T	NTHL1	NM_002528.7(NTHL1):c.726del:p.Arg242fs	coding	Pathogenic
16	2043618	T	TG	C2043622G	NTHL1	NM_002528.7(NTHL1):c.633dup:p.Lys212fs	coding	Pathogenic
16	2044644	CG	C	G2044648T	NTHL1	NM_002528.7(NTHL1):c.510del:p.Val171fs	coding	Pathogenic
16	2044705	G	GC	G2044710C	NTHL1	NM_002528.7(NTHL1):c.449dup:p.Leu151fs	coding	Pathogenic
16	2044718	A	AGTCGCTGCATGGCGCCCGCC	A2044742G	NTHL1	NM_002528.7(NTHL1):c.417_436dup:p.Leu146fs	coding	Pathogenic
16	2044726	C	CA	T2044728A	NTHL1	NM_002528.7(NTHL1):c.428dup:p.Met143fs	coding	Pathogenic
16	2044736	G	GC	G2044739C	NTHL1	NM_002528.7(NTHL1):c.418dup:p.Ala140fs	coding	Pathogenic
16	2046174	T	TC	A2046177C	NTHL1	NM_002528.7(NTHL1):c.307dup:p.Asp103fs	coding	Pathogenic
16	2046216	A	AC	A2046219C	NTHL1	NM_002528.7(NTHL1):c.265dup:p.Val89fs	coding	Pathogenic
16	2046306	GCCAC	G	C2046307A	NTHL1	NM_002528.7(NTHL1):c.172_175del:p.Val58fs	coding	Pathogenic
16	2046320	C	CT	G2046322T	NTHL1	NM_002528.7(NTHL1):c.161dup:p.Arg55fs	coding	Pathogenic
16	2046320	CTG	C	T2046323C	NTHL1	NM_002528.7(NTHL1):c.160_161del:p.Gln54fs	coding	Pathogenic
16	2046343	CG	C	G2046347C	NTHL1	NM_002528.7(NTHL1):c.138del:p.Pro46_Val47insTer	coding	Pathogenic
16	2047739	CG	C	G2047742C	NTHL1	NM_002528.7(NTHL1):c.84del:p.Pro30fs	coding	Pathogenic
16	2048067	TAAGTGGCGGTCCCCACGGGGC	T	A2048090G	TSC2	NM_000548.5(TSC2):c.-30+25_-30+45del	noncoding	Benign/Likely_benign
16	2048629	C	CA	G2048632A	TSC2	NM_000548.5(TSC2):c.16dup:p.Ser6fs	coding	Pathogenic
16	2048633	CAA	C	A2048635G	TSC2	NM_000548.5(TSC2):c.20_21del:p.Lys7fs	coding	Pathogenic
16	2048636	AG	A	G2048637A	TSC2	NM_000548.5(TSC2):c.22del:p.Asp8fs	coding	Pathogenic
16	2048646	TTG	CTA	T2048646C	TSC2	NM_000548.5(TSC2):c.31_33delinsCTA:p.Leu11=	coding	Benign/Likely_benign
16	2048746	T	TA	C2048748A	TSC2	NM_000548.5(TSC2):c.132dup:p.Leu45fs	coding	Pathogenic
16	2050421	CT	G	C2050421G	TSC2	NM_000548.5(TSC2):c.160_161delinsG:p.Leu54fs	coding	Pathogenic
16	2050598	CT	C	T2050619G	TSC2	NM_000548.5(TSC2):c.225+133del	noncoding	Benign
16	2053342	CAC	TAA	C2053342T	TSC2	NM_000548.5(TSC2):c.226_228delinsTAA:p.His76Ter	coding	Pathogenic
16	2054306	TG	T	G2054311T	TSC2	NM_000548.5(TSC2):c.352del:p.Val118fs	coding	Pathogenic
16	2054316	C	CAGAGCCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT	A2054332T	TSC2	NM_000548.5(TSC2):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAGCCCTCTTCTTT:p.Lys125delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer	coding	Pathogenic
16	2055513	TG	T	G2055515T	TSC2	NM_000548.5(TSC2):c.595del:p.Val199fs	coding	Pathogenic
16	2055890	CA	C	A2055909G	TSC2	NM_000548.5(TSC2):c.600-287del	noncoding	Benign
16	2055890	C	CA	G2055910A	TSC2	NM_000548.5(TSC2):c.600-287dup	noncoding	Benign
16	2056213	GC	G	C2056214G	TSC2	NM_000548.5(TSC2):c.618del:p.Cys206fs	coding	Pathogenic
16	2056685	C	CCT	G2056688C	TSC2	NM_000548.5(TSC2):c.691_692dup:p.Pro232fs	coding	Pathogenic
16	2056699	G	GC	T2056702C	TSC2	NM_000548.5(TSC2):c.706dup:p.Leu236fs	coding	Pathogenic
16	2057137	C	CCA	G2057142C	TSC2	NM_000548.5(TSC2):c.810_811dup:p.Ser271fs	coding	Pathogenic
16	2058800	TGGCTCTCTGGGGAGCCCACC	T	C2058807A	TSC2	NM_000548.5(TSC2):c.909_928del:p.Trp304fs	coding	Pathogenic
16	2058820	CG	C	G2058822C	TSC2	NM_000548.5(TSC2):c.924del:p.Leu309fs	coding	Pathogenic
16	2058824	TC	AG	T2058824A	TSC2	NM_000548.5(TSC2):c.926_927delinsAG:p.Leu309Gln	coding	Benign/Likely_benign
16	2060672	C	CA	T2060674A	TSC2	NM_000548.5(TSC2):c.979dup:p.Met327fs	coding	Pathogenic
16	2060754	C	CAGGTGGTG	G2060763A	TSC2	NM_000548.5(TSC2):c.1061_1068dup:p.Ala357fs	coding	Pathogenic
16	2061875	TGGACAGCCCG	T	G2061877A	TSC2	NM_000548.5(TSC2):c.1126_1135del:p.Asp376fs	coding	Pathogenic
16	2061954	CG	C	G2061957T	TSC2	NM_000548.5(TSC2):c.1206del:p.Ser403fs	coding	Pathogenic
16	2061963	GGA	G	G2061968T	TSC2	NM_000548.5(TSC2):c.1217_1218del:p.Arg406fs	coding	Pathogenic
16	2061972	CT	C	T2061975G	TSC2	NM_000548.5(TSC2):c.1224del:p.Phe408fs	coding	Pathogenic
16	2061974	TTGAAC	T	A2061977G	TSC2	NM_000548.5(TSC2):c.1226_1230del:p.Glu409fs	coding	Pathogenic
16	2062398	TGGGCTCTGACAGCAAACCAGCCTCTCGACCAGCAGCCCAGTGTGGAGAAGGAGAGCGCCGGAGGGGCAGAGGGGCAACACCGGCTCTTCTTTTGACAGGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAGAGATTCTTCAGGTAGGGGGTCCTCTGTAGCCTTGCCTGGCACCTGGAGCCTGGCCCTGTCTCTGTCTGGGGCCCACCCGGGCTGGGTCTCAGGATGCCCGATGAGCAGGGCCCTCCCCTCTGCCTCTGGAGAGCCCTGGCTCTGGGTGAGCAGGTGCTAGCTTGCTTTCCAGTCCAGCAGGACAGGTCCTCTCATGACGCCACTGGGCTCCCTCTTTTCGGGGGTCGTCTGGAGAGATGCTCCCTGGGAAGCAGAGCTCTGTGCCCTGTGTGCCTGGCCGCGGGAGGACCCAGAGTCGGGCTGGCCTGCGCCAGGCAGACGGGCTGGTGTGGGGCTGTGGCCGGGCACTCCCCACCCGCCCCAGCAGGCTGCCGTCCCGCA	T	G2062401A	TSC2	NM_000548.5(TSC2):c.1258-96_1362del	noncoding	Pathogenic
16	2062519	TCTC	T	C2062522A	TSC2	NM_000548.5(TSC2):c.1283_1285del:p.Ser428del	coding	Pathogenic/Likely_pathogenic
16	2062597	TC	AA	T2062597A	TSC2	NM_000548.5(TSC2):c.1358_1359delinsAA:p.Phe453Ter	coding	Pathogenic
16	2062603	A	AG	T2062609G	TSC2	NM_000548.5(TSC2):c.1361+8dup	noncoding	Benign
16	2062985	GGCGCCGT	G	C2062990A	TSC2	NM_000548.5(TSC2):c.1380_1386del:p.Val461fs	coding	Pathogenic
16	2063047	CT	G	C2063047G	TSC2	NM_000548.5(TSC2):c.1437_1438delinsG:p.Phe479fs	coding	Pathogenic
16	2064297	TC	T	C2064298T	TSC2	NM_000548.5(TSC2):c.1470del:p.Ser491fs	coding	Pathogenic
16	2064696	C	CCTGGGG	T2064711G	TSC2	NM_000548.5(TSC2):c.1599+270CTGGGG[3]	noncoding	Benign
16	2065412	CAAA	C	A2065434G	TSC2	NM_000548.5(TSC2):c.1600-85_1600-83del	noncoding	Benign
16	2065412	CAA	C	A2065435G	TSC2	NM_000548.5(TSC2):c.1600-84_1600-83del	noncoding	Benign
16	2065412	C	CA	G2065437A	TSC2	NM_000548.5(TSC2):c.1600-83dup	noncoding	Benign
16	2065527	C	CCGCTCCCT	T2065537G	TSC2	NM_000548.5(TSC2):c.1610_1617dup:p.Ser540fs	coding	Pathogenic
16	2065542	AC	A	C2065547G	TSC2	NM_000548.5(TSC2):c.1628del:p.Pro543fs	coding	Pathogenic
16	2070443	CCT	C	C2070450G	TSC2	NM_000548.5(TSC2):c.1717-12CT[3]	noncoding	Benign/Likely_benign
16	2070468	A	AC	T2070472C	TSC2	NM_000548.5(TSC2):c.1732dup:p.Leu578fs	coding	Pathogenic
16	2070470	CCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCT	C	A2070480G	TSC2	NM_000548.5(TSC2):c.1741_1839+182del	coding	Pathogenic
16	2070477	G	GCAAGC	C2070485A	TSC2	NM_000548.5(TSC2):c.1741_1745dup:p.His582fs	coding	Pathogenic
16	2070489	ACG	A	C2070492T	TSC2	NM_000548.5(TSC2):c.1753_1754del:p.Arg585fs	coding	Pathogenic
16	2070505	TGCTGGTCA	T	T2070508C	TSC2	NM_000548.5(TSC2):c.1769_1776del:p.Leu590fs	coding	Pathogenic
16	2070529	AC	A	C2070530T	TSC2	NM_000548.5(TSC2):c.1791del:p.Tyr598fs	coding	Pathogenic
16	2071512	CT	C	T2071515G	TSC2	NM_000548.5(TSC2):c.1845del:p.Phe615fs	coding	Pathogenic
16	2071520	TC	T	C2071522T	TSC2	NM_000548.5(TSC2):c.1852del:p.Leu618fs	coding	Pathogenic
16	2071550	ACC	A	C2071551G	TSC2	NM_000548.5(TSC2):c.1881_1882del:p.His627fs	coding	Pathogenic
16	2071578	A	AGTCGTGCGGTTCAGCCCCTACT	C2071602T	TSC2	NM_000548.5(TSC2):c.1910_1931dup:p.Val645fs	coding	Pathogenic
16	2071796	AG	A	G2071798C	TSC2	NM_000548.5(TSC2):c.1961del:p.Gly654fs	coding	Pathogenic
16	2071860	GCAGGCCCCGCC	G	C2071861G	TSC2	NM_000548.5(TSC2):c.2024_2034del:p.Ala675fs	coding	Pathogenic
16	2071879	TG	T	G2071883T	TSC2	NM_000548.5(TSC2):c.2046del:p.Ser683fs	coding	Pathogenic
16	2071940	TG	T	G2071944C	TSC2	NM_000548.5(TSC2):c.2097+10del	noncoding	Benign
16	2072239	A	AGGAGTCT	A2072248G	TSC2	NC_000016.9:g.2122240_2122241insGGAGTCT	noncoding	Pathogenic
16	2072300	TA	T	A2072303G	TSC2	NM_000548.5(TSC2):c.2160del:p.Val721fs	coding	Pathogenic
16	2072308	T	TC	A2072310C	TSC2	NM_000548.5(TSC2):c.2166dup:p.Ile723fs	coding	Pathogenic
16	2072319	TC	T	C2072323T	TSC2	NM_000548.5(TSC2):c.2180del:p.Pro727fs	coding	Pathogenic
16	2072319	T	TC	T2072324C	TSC2	NM_000548.5(TSC2):c.2180dup:p.Cys728fs	coding	Pathogenic
16	2072332	TG	T	G2072334A	TSC2	NM_000548.5(TSC2):c.2191del:p.Asp731fs	coding	Pathogenic
16	2072342	G	GTGCTC	C2072354G	TSC2	NM_000548.5(TSC2):c.2206_2210dup:p.Cys738fs	coding	Pathogenic
16	2072859	CAA	C	A2072861G	TSC2	NM_000548.5(TSC2):c.2233_2234del:p.Lys745fs	coding	Pathogenic
16	2072885	GC	G	C2072889A	TSC2	NM_000548.5(TSC2):c.2261del:p.Pro754fs	coding	Pathogenic
16	2072889	C	CA	G2072891A	TSC2	NM_000548.5(TSC2):c.2262dup:p.Glu755fs	coding	Pathogenic
16	2073242	G	GT	G2073245T	TSC2	NM_000548.5(TSC2):c.2355+261dup	noncoding	Benign
16	2074205	G	GAT	G2074208A	TSC2	NM_000548.5(TSC2):c.2362_2363dup:p.Met788fs	coding	Pathogenic
16	2074225	A	AG	C2074229G	TSC2	NM_000548.5(TSC2):c.2384dup:p.Leu796fs	coding	Pathogenic
16	2074255	GC	AA	G2074255A	TSC2	NM_000548.5(TSC2):c.2411_2412delinsAA:p.Cys804Ter	coding	Pathogenic
16	2074272	ATCTGCAGCGTGGAGATGCCTGACATCATCATC	A	T2074273A	TSC2	NM_000548.5(TSC2):c.2429_2460del:p.Ile810fs	coding	Pathogenic
16	2074288	T	TG	C2074290G	TSC2	NM_000548.5(TSC2):c.2445dup:p.Pro816fs	coding	Pathogenic
16	2074366	TC	T	C2074369A	TSC2	NM_000548.5(TSC2):c.2525del:p.Pro842fs	coding	Pathogenic
16	2074381	TC	T	C2074383T	TSC2	NM_000548.5(TSC2):c.2539del:p.Leu847fs	coding	Pathogenic
16	2074480	T	TG	A2074485G	TSC2	NM_000548.5(TSC2):c.2545+95dup	noncoding	Benign
16	2075812	GCCGCA	G	G2075815T	TSC2	NM_000548.5(TSC2):c.2562_2566del:p.His855fs	coding	Pathogenic
16	2075885	CCCTCCAAG	C	C2075886T	TSC2	NM_000548.5(TSC2):c.2633_2639+1del	coding	Pathogenic
16	2076050	GC	G	C2076055T	TSC2	NM_000548.5(TSC2):c.2640-13del	noncoding	Benign
16	2076083	CGT	C	G2076088C	TSC2	NM_000548.5(TSC2):c.2660_2661del:p.Cys887fs	coding	Pathogenic
16	2076113	G	GTGGT	C2076119G	TSC2	NM_000548.5(TSC2):c.2687_2690dup:p.Phe897fs	coding	Pathogenic
16	2076129	C	CG	C2076131G	TSC2	NM_000548.5(TSC2):c.2702dup:p.Leu902fs	coding	Pathogenic
16	2076157	CT	C	T2076160C	TSC2	NM_000548.5(TSC2):c.2732del:p.Phe911fs	coding	Pathogenic
16	2076160	TC	T	C2076161A	TSC2	NM_000548.5(TSC2):c.2733del:p.Phe911fs	coding	Pathogenic
16	2076511	CTT	C	T2076512G	TSC2	NM_000548.5(TSC2):c.2764_2765del:p.Leu922fs	coding	Pathogenic/Likely_pathogenic
16	2076516	CT	C	T2076520G	TSC2	NM_000548.5(TSC2):c.2772del:p.Phe924fs	coding	Pathogenic/Likely_pathogenic
16	2077744	T	TG	C2077751G	TSC2	NM_000548.5(TSC2):c.2966+24dup	noncoding	Benign
16	2077815	C	CTCA	G2077821A	TSC2	NM_000548.5(TSC2):c.2966+92_2966+94dup	noncoding	Benign
16	2079085	CC	AA	C2079085A	TSC2	NM_000548.5(TSC2):c.3020_3021delinsAA:p.Ser1007Ter	coding	Pathogenic
16	2079104	T	TA	G2079106A	TSC2	NM_000548.5(TSC2):c.3040dup:p.Ser1014fs	coding	Pathogenic
16	2079123	C	CTCCA	G2079125C	TSC2	NM_000548.5(TSC2):c.3059_3060insCCAT:p.Glu1021fs	coding	Pathogenic
16	2079167	CT	C	T2079169C	TSC2	NM_000548.5(TSC2):c.3104del:p.Phe1035fs	coding	Pathogenic
16	2079299	TA	T	A2079300G	TSC2	NM_000548.5(TSC2):c.3156del:p.Ala1053fs	coding	Pathogenic
16	2079307	GGCAGGAC	G	G2079308C	TSC2	NM_000548.5(TSC2):c.3164_3170del:p.Gly1055fs	coding	Pathogenic
16	2079307	G	GGCAGGACC	A2079316G	TSC2	NM_000548.5(TSC2):c.3164_3171dup:p.Lys1058fs	coding	Pathogenic
16	2079331	GGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGT	G	A2079334G	TSC2	NM_000548.5(TSC2):c.3190_3285-15del	coding	Pathogenic
16	2079394	GA	G	A2079395C	TSC2	NM_000548.5(TSC2):c.3251del:p.Asp1084fs	coding	Pathogenic
16	2079566	CG	C	G2079570T	TSC2	NM_000548.5(TSC2):c.3298del:p.Val1100fs	coding	Pathogenic
16	2079574	A	ATG	A2079579T	TSC2	NM_000548.5(TSC2):c.3305_3306dup:p.Arg1103Ter	coding	Pathogenic
16	2079633	TC	T	C2079636G	TSC2	NM_000548.5(TSC2):c.3364del:p.Arg1122fs	coding	Pathogenic
16	2079645	CG	C	G2079648A	TSC2	NM_000548.5(TSC2):c.3376del:p.Asp1126fs	coding	Pathogenic
16	2080199	GC	G	C2080201G	TSC2	NM_000548.5(TSC2):c.3434del:p.Pro1145fs	coding	Pathogenic
16	2080205	C	CT	C2080207T	TSC2	NM_000548.5(TSC2):c.3439dup:p.Ser1147fs	coding	Pathogenic
16	2080238	A	AC	A2080241C	TSC2	NM_000548.5(TSC2):c.3473dup:p.Arg1159fs	coding	Pathogenic
16	2080270	AG	A	G2080272C	TSC2	NM_000548.5(TSC2):c.3505del:p.Ala1169fs	coding	Pathogenic
16	2080284	AC	A	C2080287G	TSC2	NM_000548.5(TSC2):c.3520del:p.Arg1174fs	coding	Pathogenic
16	2081603	A	AG	C2081605G	TSC2	NM_000548.5(TSC2):c.3620dup:p.Ser1207fs	coding	Pathogenic
16	2081636	CCT	C	C2081637T	TSC2	NM_000548.5(TSC2):c.3653_3654del:p.Pro1218fs	coding	Pathogenic
16	2081646	CGG	C	G2081647A	TSC2	NM_000548.5(TSC2):c.3663_3664del:p.Asp1222fs	coding	Pathogenic
16	2081689	C	CA	T2081691A	TSC2	NM_000548.5(TSC2):c.3706dup:p.Met1236fs	coding	Pathogenic
16	2081722	CACAGCCCTGT	C	G2081726A	TSC2	NM_000548.5(TSC2):c.3742_3751del:p.Ala1248fs	coding	Pathogenic
16	2082465	AGCTGCCAAG	A	C2082467A	TSC2	NM_000548.5(TSC2):c.3846_3854del:p.Ser1282_Gly1285delinsArg	coding	Benign/Likely_benign
16	2083197	GACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCT	G	A2083198G	TSC2	NM_000548.5(TSC2):c.3884-497_5045del	noncoding	Pathogenic
16	2083750	G	GC	A2083756C	TSC2	NM_000548.5(TSC2):c.3944dup:p.Gly1316fs	coding	Pathogenic
16	2083759	G	GT	G2083762T	TSC2	NM_000548.5(TSC2):c.3950dup:p.Leu1317fs	coding	Pathogenic
16	2083766	GACGTTGA	G	A2083767G	TSC2	NM_000548.5(TSC2):c.3956_3962del:p.Asp1319fs	coding	Pathogenic
16	2084234	TCA	T	C2084235G	TSC2	NM_000548.5(TSC2):c.4013_4014del:p.Ser1338fs	coding	Pathogenic
16	2084235	C	CA	G2084237A	TSC2	NM_000548.5(TSC2):c.4014dup:p.Val1339fs	coding	Pathogenic
16	2084303	CGAGTCGTCTCCTCG	C	T2084307G	TSC2	NM_000548.5(TSC2):c.4085_4098del:p.Val1362fs	coding	Pathogenic
16	2084330	C	CCCTCTGTGGA	C2084346G	TSC2	NM_000548.5(TSC2):c.4114_4123dup:p.Ser1375fs	coding	Pathogenic
16	2084347	C	CT	C2084350T	TSC2	NM_000548.5(TSC2):c.4127dup:p.Gln1377fs	coding	Pathogenic
16	2084349	TC	T	C2084351A	TSC2	NM_000548.5(TSC2):c.4129del:p.Gln1377fs	coding	Pathogenic
16	2084482	A	AG	A2084486G	TSC2	NM_000548.5(TSC2):c.4263dup:p.Thr1422fs	coding	Pathogenic
16	2084493	ACGGGGAAAGTGCTGCCTGGT	A	G2084497C	TSC2	NM_000548.5(TSC2):c.4275_4294del:p.Glu1426fs	coding	Pathogenic
16	2084498	GA	G	A2084501G	TSC2	NM_000548.5(TSC2):c.4279del:p.Ser1427fs	coding	Pathogenic
16	2084498	G	GA	G2084502A	TSC2	NM_000548.5(TSC2):c.4279dup:p.Ser1427fs	coding	Pathogenic
16	2084501	AG	A	G2084502T	TSC2	NM_000548.5(TSC2):c.4280del:p.Ser1427fs	coding	Pathogenic
16	2084542	GC	G	C2084545G	TSC2	NM_000548.5(TSC2):c.4323del:p.Glu1442fs	coding	Pathogenic
16	2084550	GTCCCTTGCCT	G	C2084554A	TSC2	NM_000548.5(TSC2):c.4332_4341del:p.Leu1445fs	coding	Pathogenic
16	2084578	GC	G	C2084581A	TSC2	NM_000548.5(TSC2):c.4359del:p.Ser1454fs	coding	Pathogenic
16	2084589	TC	T	C2084591G	TSC2	NM_000548.5(TSC2):c.4369del:p.Arg1457fs	coding	Pathogenic
16	2084600	G	GGTTACACCATCTCCGAC	T2084618G	TSC2	NM_000548.5(TSC2):c.4379_4395dup:p.Ser1466fs	coding	Pathogenic
16	2084645	GT	G	T2084646A	TSC2	NM_000548.5(TSC2):c.4424del:p.Val1475fs	coding	Pathogenic
16	2084661	TAA	T	A2084663G	TSC2	NM_000548.5(TSC2):c.4441_4442del:p.Lys1481fs	coding	Pathogenic
16	2084662	A	AT	A2084663T	TSC2	NM_000548.5(TSC2):c.4440_4441insT:p.Lys1481Ter	coding	Pathogenic
16	2084688	CAG	C	G2084692A	TSC2	NM_000548.5(TSC2):c.4470_4471del:p.Lys1491fs	coding	Pathogenic
16	2084709	AC	A	C2084713A	TSC2	NM_000548.5(TSC2):c.4491del:p.Ser1498fs	coding	Pathogenic
16	2084935	T	TC	T2084940C	TSC2	NM_000548.5(TSC2):c.4494-12dup	noncoding	Benign
16	2085022	AT	A	T2085023G	TSC2	NM_000548.5(TSC2):c.4566del:p.Asn1522fs	coding	Pathogenic
16	2085236	TC	T	C2085238T	TSC2	NM_000548.5(TSC2):c.4578del:p.Phe1527fs	coding	Pathogenic
16	2085303	TG	T	G2085304T	TSC2	NM_000548.5(TSC2):c.4644del:p.Tyr1549fs	coding	Pathogenic
16	2086195	C	CT	A2086196T	TSC2	NM_000548.5(TSC2):c.4665_4666insT:p.Asn1556Ter	coding	Pathogenic
16	2086217	TCCAATGAGCATGGC	T	C2086218T	TSC2	NM_000548.5(TSC2):c.4688_4701del:p.Ser1563fs	coding	Pathogenic
16	2086284	AG	A	G2086286A	TSC2	NM_000548.5(TSC2):c.4756del:p.Asp1586fs	coding	Pathogenic
16	2086300	CA	C	A2086302G	TSC2	NM_000548.5(TSC2):c.4772del:p.Lys1591fs	coding	Pathogenic
16	2086339	CGG	C	G2086340C	TSC2	NM_000548.5(TSC2):c.4810_4811del:p.Gly1604fs	coding	Pathogenic
16	2086357	CTGGCACGA	G	C2086357G	TSC2	NM_000548.5(TSC2):c.4827_4835delinsG:p.Cys1609fs	coding	Pathogenic
16	2086373	A	ATG	C2086376T	TSC2	NM_000548.5(TSC2):c.4844_4845dup:p.Gln1616fs	coding	Pathogenic
16	2086759	CCACCAAGGACGTGGACAAG	C	A2086764G	TSC2	NM_000548.5(TSC2):c.4882_4900del:p.Lys1628fs	coding	Pathogenic
16	2086763	C	CA	G2086766A	TSC2	NM_000548.5(TSC2):c.4883dup:p.Asp1629fs	coding	Pathogenic
16	2086770	G	GT	G2086772T	TSC2	NM_000548.5(TSC2):c.4889dup:p.Asp1631fs	coding	Pathogenic
16	2086786	G	GC	G2086788C	TSC2	NM_000548.5(TSC2):c.4905dup:p.Asp1636fs	coding	Pathogenic
16	2086803	CTGGGCAACGACTT	C	G2086806T	TSC2	NM_000548.5(TSC2):c.4924_4936del:p.Gly1642fs	coding	Pathogenic
16	2086848	GACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCC	TGA	G2086848T	TSC2	NM_000548.5(TSC2):c.4966_4989+14delinsTGA	coding	Pathogenic
16	2087874	CTT	C	T2087876G	TSC2	NM_000548.5(TSC2):c.5003_5004del:p.Phe1668fs	coding	Pathogenic
16	2088029	GACC	G	C2088034A	TSC2	NM_000548.5(TSC2):c.5069-14_5069-12del	noncoding	Benign/Likely_benign
16	2088051	TGGAG	T	A2088054C	TSC2	NM_000548.5(TSC2):c.5075_5078del:p.Glu1692fs	coding	Pathogenic
16	2088052	GGAGGGCCTTGTGGACACCAGCGTGGCCAA	G	G2088055T	TSC2	NM_000548.5(TSC2):c.5076_5104del:p.Glu1692fs	coding	Pathogenic
16	2088063	T	TG	A2088066G	TSC2	NM_000548.5(TSC2):c.5086dup:p.Asp1696fs	coding	Pathogenic
16	2088080	AAG	A	G2088082T	TSC2	NM_000548.5(TSC2):c.5103_5104del:p.Lys1701fs	coding	Pathogenic
16	2088088	G	GTC	G2088092C	TSC2	NM_000548.5(TSC2):c.5111_5112dup:p.Asp1705fs	coding	Pathogenic
16	2088091	T	TGACC	C2088097A	TSC2	NM_000548.5(TSC2):c.5114_5117dup:p.Asn1707fs	coding	Pathogenic
16	2088093	A	ACC	G2088096C	TSC2	NM_000548.5(TSC2):c.5115_5116dup:p.Arg1706fs	coding	Pathogenic
16	2088117	GC	G	C2088119A	TSC2	NM_000548.5(TSC2):c.5140del:p.Gln1714fs	coding	Pathogenic
16	2088140	G	GT	G2088142T	TSC2	NM_000548.5(TSC2):c.5160+2dup	coding	Pathogenic
16	2088206	AC	A	C2088211T	TSC2	NM_000548.5(TSC2):c.5161-16del	noncoding	Benign
16	2088238	G	GGT	C2088242T	TSC2	NM_000548.5(TSC2):c.5174_5175dup:p.His1726fs	coding	Pathogenic
16	2088267	A	ATATC	C2088274T	TSC2	NM_000548.5(TSC2):c.5204_5207dup:p.Pro1737fs	coding	Pathogenic
16	2088273	A	AC	T2088278C	TSC2	NM_000548.5(TSC2):c.5211dup:p.Ser1738fs	coding	Pathogenic
16	2088291	CCCGGCTCCGCCACATCAA	C	C2088292G	TSC2	NM_000548.5(TSC2):c.5226_5243del:p.His1746_Arg1751del	coding	Pathogenic
16	2088304	CATCAAGCGGCTCCGCCAG	C	A2088305C	TSC2	NM_000548.5(TSC2):c.5239_5256del:p.Ile1747_Gln1752del	coding	Pathogenic
16	2088562	G	GC	G2088564C	TSC2	NM_000548.5(TSC2):c.5377dup:p.Arg1793fs	coding	Pathogenic
16	2088563	C	CT	G2088564T	TSC2	NM_000548.5(TSC2):c.5377_5378insT:p.Arg1793fs	coding	Pathogenic
16	2088881	GCACACA	G	C2088894G	TSC2	NM_000548.5(TSC2):c.*272CA[6]	noncoding	Benign
16	2088881	GCACA	G	C2088896G	TSC2	NM_000548.5(TSC2):c.*272CA[7]	noncoding	Benign
16	2088881	G	GCGCACA	A2088883G	TSC2	NM_000548.5(TSC2):c.*272_*273insGCACAC	noncoding	Benign
16	2088881	G	GCGCACACA	A2088883G	TSC2	NM_000548.5(TSC2):c.*272_*273insGCACACAC	noncoding	Benign
16	2088887	AC	A	C2088888A	TSC2	NM_000548.5(TSC2):c.*278del	noncoding	Benign
16	2088889	ACAC	A	C2088890A	TSC2	NM_000548.5(TSC2):c.*280_*282del	noncoding	Benign
16	2089903	G	GGCTGTGCAGCT	C2089919T	PKD1	NM_001009944.3(PKD1):c.12725_12735dup:p.Leu4246fs	coding	Pathogenic
16	2089981	C	CG	A2089983G	PKD1	NM_001009944.3(PKD1):c.12657dup:p.Glu4220fs	coding	Pathogenic
16	2090003	GGGCTCAGGCTCACACCTTGTCCCCAGCC	G	T2090007C	PKD1	NM_001009944.3(PKD1):c.12608_12635del:p.Arg4203fs	coding	Pathogenic
16	2090148	CGA	C	A2090152G	PKD1	NM_001009944.3(PKD1):c.12489_12490del:p.Arg4164fs	coding	Pathogenic
16	2090341	CCATCT	C	A2090343G	PKD1	NM_001009944.3(PKD1):c.12383_12387del:p.Glu4128fs	coding	Pathogenic
16	2090496	TC	T	C2090497G	PKD1	NM_001009944.3(PKD1):c.12232del:p.Glu4078fs	coding	Pathogenic
16	2090804	GC	G	C2090805A	PKD1	NM_001009944.3(PKD1):c.12007del:p.Ala4003fs	coding	Pathogenic
16	2090807	GC	G	C2090809T	PKD1	Single_allele	coding	Pathogenic
16	2090956	G	GA	G2090959A	PKD1	NM_001009944.3(PKD1):c.11930dup:p.Asp3978fs	coding	Pathogenic
16	2091033	G	GT	A2091035T	PKD1	NM_001009944.3(PKD1):c.11853dup:p.Arg3952fs	coding	Pathogenic
16	2091146	AAGTGCACGGCGAACAG	A	A2091147C	PKD1	NM_001009944.3(PKD1):c.11725_11740del:p.Leu3909fs	coding	Pathogenic
16	2091441	CGA	C	A2091445G	PKD1;PKD1-AS1	NM_001009944.3(PKD1):c.11692_11693del:p.Ser3898fs	coding	Pathogenic
16	2091506	C	CT	G2091507T	PKD1	NM_001009944.3(PKD1):c.11628_11629insA:p.Gly3877fs	coding	Pathogenic
16	2091511	GC	G	C2091513G	PKD1	NM_001009944.3(PKD1):c.11623del:p.Ala3875fs	coding	Pathogenic
16	2091513	CG	C	G2091516A	PKD1	NM_001009944.3(PKD1):c.11621del:p.Pro3874fs	coding	Pathogenic
16	2091582	GA	G	A2091584C	PKD1	NM_001009944.3(PKD1):c.11552del:p.Phe3851fs	coding	Pathogenic
16	2091891	G	GC	A2091896C	PKD1	NM_001009944.3(PKD1):c.11426dup:p.Ser3810fs	coding	Pathogenic
16	2092069	AG	A	G2092071C	PKD1	NM_001009944.3(PKD1):c.11388del:p.Tyr3797fs	coding	Pathogenic
16	2092113	TC	T	C2092114G	PKD1	NM_001009944.3(PKD1):c.11344del:p.Asp3782fs	coding	Pathogenic
16	2092144	C	CCGGG	A2092147G	PKD1	NM_001009944.3(PKD1):c.11313_11314insCCCG:p.Ala3772fs	coding	Pathogenic
16	2092587	T	TC	A2092589C	PKD1	NM_001009944.3(PKD1):c.11161dup:p.Glu3721fs	coding	Pathogenic
16	2092990	T	TGCTTGATG	G2093001T	PKD1	NM_001009944.3(PKD1):c.11112_11119dup:p.Gln3707fs	coding	Pathogenic
16	2093898	CG	C	G2093899C	PKD1	NM_001009944.3(PKD1):c.10733del:p.Ala3578fs	coding	Pathogenic
16	2093905	A	ACC	A2093909C	PKD1	NM_001009944.3(PKD1):c.10725_10726dup:p.Val3576fs	coding	Pathogenic
16	2094163	A	AGCTG	C2094166T	PKD1	NM_001009944.3(PKD1):c.10546_10547insCAGC:p.Leu3516fs	coding	Pathogenic
16	2094168	C	CT	G2094170T	PKD1	NM_001009944.3(PKD1):c.10541dup:p.Arg3515fs	coding	Pathogenic
16	2094181	GTC	G	C2094185G	PKD1	NM_001009944.3(PKD1):c.10527_10528del:p.Glu3509fs	coding	Pathogenic
16	2094185	C	CT	G2094187T	PKD1	NM_001009944.3(PKD1):c.10524dup:p.Glu3509fs	coding	Pathogenic
16	2094193	TC	T	C2094197A	PKD1	NM_001009944.3(PKD1):c.10516del:p.Glu3506fs	coding	Pathogenic
16	2097184	T	TG	T2097188G	PKD1	NM_001009944.3(PKD1):c.10462dup:p.Gln3488fs	coding	Pathogenic
16	2097187	G	GT	A2097189T	PKD1	NM_001009944.3(PKD1):c.10459dup:p.Thr3487fs	coding	Pathogenic
16	2097365	G	GA	G2097368A	PKD1	NM_001009944.3(PKD1):c.10358dup:p.Ser3454fs	coding	Pathogenic
16	2097443	C	CG	T2097447G	PKD1	NM_001009944.3(PKD1):c.10280dup:p.Ser3428fs	coding	Pathogenic
16	2097728	CT	C	T2097729C	PKD1	NM_001009944.3(PKD1):c.10219del:p.Ser3407fs	coding	Pathogenic
16	2099640	CCACCTTGCTCCGGGACATCCGGAAGAGAAAAAGGATGGCCAGGTAGACGGGATAGACAACCACGCTGGACACCAGGCCAACAGCGACTGTGTCGACGCTCAGCGGGCTCAGCCTGGACACATGCCCCGTGCTGTGTGGAGGAGAGGAGGCCACACAGGTGAGGCTGAGGGGCAGGAAGGGCTGGGCAGGAAGAGGCTGCCCCGACCCCTACGGCACCCACCTGTAGGCAGAGTCGCCAACAGCCCCGTACCACACGGCGTTGGCGCCCAGGAAGAGGCAGATGAGGAGAACGCAGCAGGTGGCCCTCTGGATGCGAGTGAAACGGCTACGAGGCGGCCGGTCCCATATGGAGAGCCAGATGTGCTTGTCAAAGAAGCCACGCTGCAGCTCAGCCACCAGCAGGCGCCGGAAGCGCAAAAGGGCTGCGTCGCCTAGAAGGCAGGGAGGGCCGCACTGCAGGAGGCCACGGGGCAGGACCACCCTGCCCAACCTCCCACGGAGTGGGAACATGGAACGAGGCCTTACTCGCGGCCAGCACCTCCTTCTCCACCAGGCCCCCGTTGGCCTCCGTCTCCACCGAAAGCCAGTCATTGACCAGGAAGAAGGCGCTGCGTGCCGTCTGCAGGTCCCTGACGATGACGTGCTGCAGGAACCAGGCAGGGCTGAGCCCTGCAGAGGCGCAGGAGGGAGGTCAGGCTCGCAGGGCGCCCCAATGCGGGGGCAGAGGGGCAGAGCTTGGCAGGGTCCGCACAAACCTTTGTTGTCGTGCCACACTCGGATCTTCCACACGCTACCCAGGCTGTGCGGGGTGGCGATCCGGAAGATGTCCAGGCTGTTGCGGTGGAAGGCTCTGTCGCCGTCCAGGTGCCGGTGGCCGCTCCGGCTGTCCACCCCATACAGCATGATGCCCACGTGGGCCGTGGTACCTGGGAGGCAAGAGGGAGGGGTGGGAGGCTCGGTCTGCTGCCCAACACGTGTGGCATCCCAGGCAAGTCATCTCAGCTTTGGCCTGTGCGCACTCAAGGAGCCACACAGGCAGTCCCGGCTTTGCACGGCTCTGCCATACACAAGGAGCTGCGGTTACTGCAATTTGTCCAATTAACAGCAGGACCTCAAGGACATGATTAAGTTACATGGAAAGAACTGTAACTTGTGACATGCAAACATGGCTGCACACGCCTCAGTCCACACCACAACCAGTGACCCGCACTGCACACCTGTCCACGCCTCAGTCATGCCACAACCGGTGACCCGCACCACACACCCGTCCCTCAGTTCATGCACAGACTGCAAAGCGTGAAGCTGTGTCACCTCCTCTCCCAGTGACAGACCCAGGTGACAGTATTTTTTTTCTTTTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGGAGCTGGGACTACAGGCGCCTGCCACTACGCCGGGCTAATTTTTTTGTACTTTTTATTAGAGACAGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCTGACCCCGTGATTTGCCTGCCTGGCCTCCCAAAGTGCTCGGATTACAGGTGTGAGCCACCGCGCCCGGCCGACAGTTTTTAAAAGTAGGTAATCAAAAGAAAGAACTGGGCAATGAAGAGGAAAGCAGCACAGAGATAAAAAATGGGAACACAGCCAGGTGTGGTGGCTCACACCTGTCATCCCAGCACTCTGGCAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGCCTGGCTGACATGGTGAAAAATTAACTGGGTGTGGTGGTGTGCACCTGTACTCCCAGCTACTCAGGAGAATCGCTTAAGGGGAATGGCTTAAACCCGGGAGCTGGAAGTTGCTGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCTAAAAAAAGAAAAACGAAAACAAAAAGGGAATGCCAGAAGGGCAATTCCAATGAAAGGAAAATGGAGGTACTGAAGAAACAGCCACGGGGAGGGTGCTGGCGCCTCCGTCTGAGAGACGAGCTATGCAGTCAGGATCGCGGGTGGATGCACAGTCTCCCACAGTGGTAGCGATGCTCACGTCACTTGTGGGGCCACGCTACTGTGCAGAACGTGGGCTGCCCACCCTGACTGACTGGCACCTACTTCCAGCTAGGAGCTGTCCTAGTCCTCAGGGACAGTGAGTGCTCACGAGGTCATTCCCAGGATGAACACACGAGCCCTTCACACAGCACTGCAAAAACTGCCTTGTTCTGACGCCTGCGACGAGACTCACTCCCAGAGGGTGCAACCAGCACAGCCAGTGAGAGCAGGGGAGGCCCTGCCACCCCGCTGCGCCCCTCACCTGAGCCCCGGCCCCAGCCTGTCTTGACGAGGATCTCGTACTTGAAGCGGCCCCGCTGCCCACAGAAAGGGATGGCGCGGCCCCGGCTGGCATCCAACTGGTCCAGCTTGTGCAGGATGGCGGCCATGACCATGTAGGTCACCAGGCACACAGCACATGTCAGCATGACGATGTAGTTTACATCCGCTGTCGGCTCCTGTGAGGACACAGCCGCCGGGCCCAGGAGGTCACGTGCAAGCTGTGCCTTCTCAGGATAGAGCCGAGCCCACCCAGGCCCTCCTCGACTCTGCAGAGGCTCCCAGGAGCACAGGGTCACTCACAGGAAACACAAAGCGGACATGGCTTGGGGGCACGAAGAGGCTGGCGCCGAAGGCGGTGAGGTGGCGGGTGAGGCAGACGGCCTGGCGGGGCGAGGTCTCCTCCAGGGGCAGCAGCCCCTCTGTCCGCCACACCATGTCCTCCTCGCTGAAGTACTGGCACAGGGACGTGTACAGGCCCACGGACACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGCTAGCCGAGCAGTTGTGCTCATTGGGCCGGGGCTCCGAGTGTAGGTAGACTGCCAGGTAGGGCTCAGGTTCCTCAGACAGGTAGTGGCCTGGGGCAGAACGCGCAGGTCACACGCCTGCCGGGAAGCTCAACCACCCGGGGGACACCCACGATGGCCCTCCTGAGCCCACCCTCTGCCACGGGCCTGAAAGGCCATAGGAGCCTCTGCACCAGAGCTGGCACCTGCTTCTCCGTGGCCCCCAGCTCCTCTCTGGCCAGGCCCCCAGCAGCCCATGAAACAGAAAGCAAATTTCACCAGAGACACCCATGGAAGCCCTACGAGAAACGCCTTCCCCCCAAGAACA	C	C2099641A	PKD1	NM_001009944.3(PKD1):c.8791+40_10050+3del	noncoding	Pathogenic
16	2099662	GA	G	A2099664G	PKD1	NM_001009944.3(PKD1):c.10031del:p.Phe3344fs	coding	Pathogenic
16	2099768	G	GT	G2099770T	PKD1	NM_001009944.3(PKD1):c.9925dup:p.Thr3309fs	coding	Pathogenic
16	2099922	TGAG	T	G2099926A	PKD1	NM_001009944.3(PKD1):c.9856CTC[1]:p.Leu3287del	coding	Pathogenic/Likely_pathogenic
16	2099942	GC	G	C2099945T	PKD1	NM_001009944.3(PKD1):c.9841del:p.Ala3281fs	coding	Pathogenic
16	2100054	G	GC	A2100056C	PKD1	NM_001009944.3(PKD1):c.9729dup:p.Arg3244fs	coding	Pathogenic
16	2100057	A	AT	A2100058T	PKD1	NM_001009944.3(PKD1):c.9726_9727insA:p.Leu3243fs	coding	Pathogenic
16	2100194	G	GC	G2100200C	PKD1	NM_001009944.3(PKD1):c.9683dup:p.Leu3229fs	coding	Pathogenic
16	2100286	GCAGGAAC	G	A2100291C	PKD1	NM_001009944.3(PKD1):c.9585_9591del:p.Trp3195fs	coding	Pathogenic
16	2100477	T	TG	C2100479G	PKD1	NM_001009944.3(PKD1):c.9486dup:p.Asn3163fs	coding	Pathogenic
16	2102107	G	GCGGC	C2102113G	PKD1	NM_001009944.3(PKD1):c.9347_9350dup:p.Phe3118fs	coding	Pathogenic
16	2102583	CG	C	G2102585A	PKD1	NM_001009944.3(PKD1):c.8998del:p.Arg3000fs	coding	Pathogenic
16	2102816	CG	C	G2102820A	PKD1	NM_001009944.3(PKD1):c.8945del:p.Pro2982fs	coding	Pathogenic
16	2102863	ACT	A	C2102866G	PKD1	NM_001009944.3(PKD1):c.8897_8898del:p.Glu2966fs	coding	Pathogenic
16	2102925	AG	A	G2102927T	PKD1	NM_001009944.3(PKD1):c.8836del:p.Leu2946fs	coding	Pathogenic
16	2103307	GC	G	C2103308A	PKD1	NM_001009944.3(PKD1):c.8749del:p.Ala2917fs	coding	Pathogenic
16	2103344	C	CG	A2103347G	PKD1	NM_001009944.3(PKD1):c.8712dup:p.Val2905fs	coding	Pathogenic
16	2103425	TG	T	G2103428C	PKD1	NM_001009944.3(PKD1):c.8631del:p.Asn2878fs	coding	Pathogenic
16	2103610	A	AGGGCCCCGCTGAAAGCCTCG	A2103634C	PKD1	NM_001009944.3(PKD1):c.8427_8446dup:p.Leu2816fs	coding	Pathogenic
16	2103723	G	GC	G2103727C	PKD1	NM_001009944.3(PKD1):c.8333dup:p.Glu2779fs	coding	Pathogenic
16	2103736	AG	A	G2103740C	PKD1	NM_001009944.3(PKD1):c.8320del:p.Pro2773_Leu2774insTer	coding	Pathogenic
16	2103739	GGCTCCTCGT	CCCGCCCGTCAGCGTCA	G2103739C	PKD1	NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG:p.Asn2770fs	coding	Pathogenic
16	2103853	TGTGG	AGTGT	T2103853A	PKD1	NM_001009944.3(PKD1):c.8200_8204delinsACACT:p.Pro2734_Gln2735delinsThrLeu	coding	Benign
16	2104533	GGCGTCACGGT	G	G2104536C	PKD1	NM_001009944.3(PKD1):c.8116_8125del:p.Thr2706fs	coding	Pathogenic
16	2104612	ACGAG	A	A2104615G	PKD1	NM_001009944.3(PKD1):c.8043_8046del:p.Ser2682fs	coding	Pathogenic
16	2105348	TC	T	C2105349T	PKD1	NM_001009944.3(PKD1):c.7989del:p.Ile2664fs	coding	Pathogenic
16	2105363	CCA	C	C2105366G	PKD1	NM_001009944.3(PKD1):c.7973_7974del:p.Val2658fs	coding	Pathogenic
16	2105386	AC	A	C2105388A	PKD1	NM_001009944.3(PKD1):c.7951del:p.Val2651fs	coding	Pathogenic
16	2105863	AC	A	C2105865T	PKD1	NM_001009944.3(PKD1):c.7863+1del	noncoding	Pathogenic
16	2105978	GC	G	C2105982G	PKD1	NM_001009944.3(PKD1):c.7749del:p.Leu2584fs	coding	Pathogenic
16	2106213	GAC	G	C2106217G	PKD1	NM_001009944.3(PKD1):c.7579_7580del:p.Val2527fs	coding	Pathogenic
16	2106465	GC	G	C2106471A	PKD1	NM_001009944.3(PKD1):c.7421del:p.Gly2474fs	coding	Pathogenic
16	2106541	G	GT	G2106543T	PKD1	NM_001009944.3(PKD1):c.7345dup:p.Thr2449fs	coding	Pathogenic
16	2106637	A	AG	C2106639G	PKD1	NM_001009944.3(PKD1):c.7249dup:p.Leu2417fs	coding	Pathogenic
16	2108283	C	CT	G2108285T	PKD1	NM_001009944.3(PKD1):c.6883dup:p.Ser2295fs	coding	Pathogenic
16	2108352	CGT	C	G2108357C	PKD1	NM_001009944.3(PKD1):c.6813_6814del:p.Arg2272fs	coding	Pathogenic
16	2108353	G	GT	G2108355T	PKD1	NM_001009944.3(PKD1):c.6813dup:p.Arg2272fs	coding	Pathogenic
16	2108435	GCT	G	C2108438G	PKD1	NM_001009944.3(PKD1):c.6730_6731del:p.Ser2244fs	coding	Pathogenic
16	2108450	CGT	C	G2108453C	PKD1	NM_001009944.3(PKD1):c.6715_6716del:p.Thr2239fs	coding	Pathogenic
16	2108573	C	CGGCCGCT	A2108584C	PKD1	NM_001009944.3(PKD1):c.6587_6593dup:p.Gly2199fs	coding	Pathogenic
16	2108586	CTGGCGGT	C	T2108587G	PKD1	NM_001009944.3(PKD1):c.6574_6580del:p.Thr2192fs	coding	Pathogenic
16	2108837	GGCCCTGG	AGGTAGGAGT	G2108837A	PKD1	NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT:p.Pro2108fs	coding	Pathogenic
16	2108956	AG	A	G2108960C	PKD1	NM_001009944.3(PKD1):c.6210del:p.Cys2071fs	coding	Pathogenic
16	2108957	GGGGCCGCTCTGCA	G	G2108963A	PKD1	NM_001009944.3(PKD1):c.6197_6209del:p.Leu2066fs	coding	Pathogenic
16	2109002	C	CA	G2109004A	PKD1	NM_001009944.3(PKD1):c.6164dup:p.Glu2056fs	coding	Pathogenic
16	2109018	TTC	T	T2109021A	PKD1	NM_001009944.3(PKD1):c.6147_6148del:p.Asn2050fs	coding	Pathogenic
16	2109197	CCT	C	T2109201A	PKD1	NM_001009944.3(PKD1):c.5968_5969del:p.Arg1990fs	coding	Pathogenic
16	2109201	TCA	T	C2109202G	PKD1	NM_001009944.3(PKD1):c.5964_5965del:p.Arg1990fs	coding	Pathogenic
16	2109254	C	CA	C2109256A	PKD1	NM_001009944.3(PKD1):c.5912dup:p.Ser1972fs	coding	Pathogenic
16	2109273	ATGCGCACC	A	A2109279C	PKD1	NM_001009944.3(PKD1):c.5886_5893del:p.Gln1962fs	coding	Pathogenic
16	2109276	CG	C	G2109277C	PKD1	NM_001009944.3(PKD1):c.5890del:p.Arg1964fs	coding	Pathogenic
16	2109310	TG	T	G2109311C	PKD1	NM_001009944.3(PKD1):c.5856del:p.Asn1954fs	coding	Pathogenic
16	2109342	C	CG	A2109348G	PKD1	NM_001009944.3(PKD1):c.5824dup:p.Arg1942fs	coding	Pathogenic
16	2109363	CG	C	G2109367C	PKD1	NM_001009944.3(PKD1):c.5803del:p.Arg1935fs	coding	Pathogenic
16	2109390	GC	G	C2109394G	PKD1	NM_001009944.3(PKD1):c.5776del:p.Ala1926fs	coding	Pathogenic
16	2109753	AG	A	G2109755C	PKD1	NM_001009944.3(PKD1):c.5413del:p.Leu1805fs	coding	Pathogenic
16	2109865	TG	T	G2109867T	PKD1	NM_001009944.3(PKD1):c.5301del:p.Thr1768fs	coding	Pathogenic
16	2110086	TG	T	G2110088T	PKD1	NM_001009944.3(PKD1):c.5080del:p.His1694fs	coding	Pathogenic
16	2110115	CGAGAA	C	A2110117C	PKD1	NM_001009944.3(PKD1):c.5047_5051del:p.Phe1683fs	coding	Pathogenic
16	2110171	AG	A	G2110172C	PKD1	NM_001009944.3(PKD1):c.4995del:p.Trp1666fs	coding	Pathogenic
16	2110423	A	AG	A2110426G	PKD1	NM_001009944.3(PKD1):c.4743dup:p.Trp1582fs	coding	Pathogenic
16	2110616	G	GT	A2110618T	PKD1	NM_001009944.3(PKD1):c.4550dup:p.Tyr1517Ter	coding	Pathogenic
16	2110681	C	CG	C2110686G	PKD1	NM_001009944.3(PKD1):c.4485dup:p.Ala1496fs	coding	Pathogenic
16	2110747	TG	T	G2110748A	PKD1	NM_001009944.3(PKD1):c.4419del:p.Asn1474fs	coding	Pathogenic
16	2110890	GC	T	G2110890T	PKD1	NM_001009944.3(PKD1):c.4276_4277delinsA:p.Ala1426fs	coding	Pathogenic
16	2111047	TGCTGGTGAAGT	C	T2111047C	PKD1	NM_001009944.3(PKD1):c.4109_4120delinsG:p.Tyr1370fs	coding	Pathogenic
16	2111124	TTG	T	G2111130C	PKD1	NM_001009944.3(PKD1):c.4041_4042del:p.His1347fs	coding	Pathogenic
16	2111235	G	GC	G2111237C	PKD1	NM_001009944.3(PKD1):c.3931dup:p.Ala1311fs	coding	Pathogenic
16	2111565	GC	G	C2111567G	PKD1	NM_001009944.3(PKD1):c.3601del:p.Ala1201fs	coding	Pathogenic
16	2111565	G	GCCGCA	T2111575A	PKD1	NM_001009944.3(PKD1):c.3597_3601dup:p.Ala1201fs	coding	Pathogenic
16	2111594	C	CT	A2111595T	PKD1	NM_001009944.3(PKD1):c.3572_3573insA:p.Glu1192fs	coding	Pathogenic
16	2112462	CCA	C	C2112463A	PKD1	NM_001009944.3(PKD1):c.3171_3172del:p.Phe1057fs	coding	Pathogenic
16	2114226	AGATGGGCTCCTCC	A	A2114228C	PKD1	NM_001009944.3(PKD1):c.2784_2796del:p.Glu929fs	coding	Pathogenic
16	2114233	CTCCTCCGCCGTCA	C	T2114234C	PKD1	NM_001009944.3(PKD1):c.2777_2789del:p.Val926fs	coding	Pathogenic
16	2114332	TACCACTGAGA	T	C2114335A	PKD1	NM_001009944.3(PKD1):c.2681_2690del:p.Leu893_Phe894insTer	coding	Pathogenic
16	2114363	CA	C	A2114364G	PKD1	NM_001009944.3(PKD1):c.2659del:p.Trp887fs	coding	Pathogenic
16	2114417	CG	C	G2114420C	PKD1	NM_001009944.3(PKD1):c.2605del:p.Arg869fs	coding	Pathogenic
16	2115419	ACT	A	T2115425C	PKD1	NM_001009944.3(PKD1):c.2054_2055del:p.Glu685fs	coding	Pathogenic
16	2116581	A	AG	T2116586G	PKD1	NM_001009944.3(PKD1):c.1669dup:p.Leu557fs	coding	Pathogenic
16	2116596	TC	T	C2116600A	PKD1	NM_001009944.3(PKD1):c.1654del:p.Asp552fs	coding	Pathogenic
16	2117019	GCA	G	C2117022G	PKD1	NM_001009944.3(PKD1):c.1418_1419del:p.Val473fs	coding	Pathogenic
16	2117047	TA	T	A2117048G	PKD1	NM_001009944.3(PKD1):c.1391del:p.Leu464fs	coding	Pathogenic
16	2117520	C	CG	C2117523G	PKD1	NM_001009944.3(PKD1):c.1353dup:p.Val452fs	coding	Pathogenic
16	2117792	TC	T	C2117793G	PKD1	NM_001009944.3(PKD1):c.1199del:p.Arg400fs	coding	Pathogenic
16	2117855	G	GT	C2117858T	PKD1	NM_001009944.3(PKD1):c.1136dup:p.Asn379fs	coding	Pathogenic
16	2118007	C	CAGGCAGCACATAGCGATGCG	C2118035A	PKD1	NM_001009944.3(PKD1):c.965_984dup:p.Gly329fs	coding	Pathogenic
16	2118015	ACATAGCGATGCGAGGCAGCCGGC	A	A2118017C	PKD1	NM_001009944.3(PKD1):c.954_976del:p.Pro319fs	coding	Pathogenic
16	2118094	CAG	C	A2118095G	PKD1	NM_001009944.3(PKD1):c.896_897del:p.Pro299fs	coding	Pathogenic
16	2118332	GC	G	C2118335T	PKD1	NM_001009944.3(PKD1):c.659del:p.Gly220fs	coding	Pathogenic
16	2118360	C	CTGCA	G2118365T	PKD1	NM_001009944.3(PKD1):c.628_631dup:p.Ser211fs	coding	Pathogenic
16	2118390	T	TG	C2118394G	PKD1	NM_001009944.3(PKD1):c.601dup:p.His201fs	coding	Pathogenic
16	2118705	AG	A	G2118706C	PKD1	NM_001009944.3(PKD1):c.499del:p.Gly168fs	coding	Pathogenic
16	2118713	CT	C	T2118714G	PKD1	NM_001009944.3(PKD1):c.491del:p.Gln164fs	coding	Pathogenic
16	2119142	AT	A	T2119143A	PKD1	NM_001009944.3(PKD1):c.330del:p.Phe111fs	coding	Pathogenic
16	2119170	GT	G	T2119172G	PKD1	NM_001009944.3(PKD1):c.302del:p.Asn101fs	coding	Pathogenic
16	2119182	AT	A	T2119183C	PKD1	NM_001009944.3(PKD1):c.290del:p.Asp97fs	coding	Pathogenic
16	2135580	CA	C	A2135581G	PKD1	NM_001009944.3(PKD1):c.109del:p.Cys37fs	coding	Pathogenic
16	2281402	CAG	C	A2281405G	ABCA3	NM_001089.3(ABCA3):c.4141_4142del:p.Leu1381fs	coding	Pathogenic
16	2283222	CCT	C	C2283223G	ABCA3	NM_001089.3(ABCA3):c.3997_3998del:p.Arg1333fs	coding	Pathogenic
16	2283318	C	CG	C2283323G	ABCA3	NM_001089.3(ABCA3):c.3902dup:p.Val1303fs	coding	Pathogenic
16	2285133	GCCA	G	C2285135G	ABCA3	NM_001089.3(ABCA3):c.3484-138_3484-136del	noncoding	Benign
16	2285564	TGACCGCCAGGATG	T	C2285567G	ABCA3	NM_001089.3(ABCA3):c.3348_3360del:p.Ile1117fs	coding	Pathogenic
16	2285602	AT	A	T2285603G	ABCA3	NM_001089.3(ABCA3):c.3322del:p.Met1108fs	coding	Pathogenic
16	2286914	T	TA	G2286918A	ABCA3	NM_001089.3(ABCA3):c.3057dup:p.Asn1020Ter	coding	Pathogenic
16	2298617	CCTCT	C	C2298620G	ABCA3	NM_001089.3(ABCA3):c.1742-81_1742-78del	noncoding	Benign
16	2299413	GGA	G	A2299417G	ABCA3	NM_001089.3(ABCA3):c.1729_1730del:p.Ser577fs	coding	Pathogenic
16	2300141	T	TA	G2300143A	ABCA3	NM_001089.3(ABCA3):c.1474dup:p.Tyr492fs	coding	Pathogenic/Likely_pathogenic
16	2308196	TG	T	G2308199C	ABCA3	NM_001089.3(ABCA3):c.1285+253del	noncoding	Benign
16	2319329	C	CA	T2319336A	ABCA3	NM_001089.3(ABCA3):c.873+246dup	noncoding	Benign
16	2435666	CATATATATATATATATAT	C	A2435687T	CCNF	NM_001761.3(CCNF):c.279-139AT[10]	noncoding	Benign
16	2437011	C	CT	A2437012T	CCNF	NM_001761.3(CCNF):c.347-118_347-117insT	noncoding	Benign
16	2437903	T	TAA	G2437923A	CCNF	NM_001761.3(CCNF):c.541-149_541-148dup	noncoding	Benign
16	2437903	T	TA	G2437923A	CCNF	NM_001761.3(CCNF):c.541-148dup	noncoding	Benign
16	2449785	G	GTCCCCTCCA	C2449804T	CCNF	NM_001761.3(CCNF):c.1400-42TCCCCTCCA[3]	noncoding	Benign
16	2496203	AT	A	T2496204C	TBC1D24	NM_001199107.2(TBC1D24):c.56del:p.Ile19fs	coding	Pathogenic
16	2496498	TC	T	C2496500T	TBC1D24	NM_001199107.2(TBC1D24):c.352del:p.Leu118fs	coding	Pathogenic
16	2496550	GC	G	C2496552G	TBC1D24	NM_001199107.2(TBC1D24):c.404del:p.Pro135fs	coding	Pathogenic
16	2496682	G	GT	C2496684T	TBC1D24	NM_001199107.2(TBC1D24):c.535dup:p.Ser179fs	coding	Pathogenic
16	2496784	GCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGA	G	C2496790T	TBC1D24	NM_001199107.2(TBC1D24):c.642_793del:p.Trp215fs	coding	Pathogenic
16	2496861	AG	A	G2496863T	TBC1D24	NM_001199107.2(TBC1D24):c.715del:p.Val239fs	coding	Pathogenic
16	2496898	CT	C	T2496900C	TBC1D24	NM_001199107.2(TBC1D24):c.752del:p.Phe251fs	coding	Pathogenic
16	2496953	AT	A	T2496954C	TBC1D24	NM_001199107.2(TBC1D24):c.806del:p.Ile269fs	coding	Pathogenic
16	2498394	C	CA	G2498396A	TBC1D24	NM_001199107.2(TBC1D24):c.1141dup:p.Arg381fs	coding	Pathogenic
16	2499439	GCCAGGGCTGGCTCTGATGGGCT	G	C2499484T	TBC1D24	NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2]	noncoding	Benign
16	2500311	AC	A	C2500315G	TBC1D24	NM_001199107.2(TBC1D24):c.1350del:p.Glu451fs	coding	Pathogenic
16	2500358	GC	G	C2500362A	TBC1D24	NM_001199107.2(TBC1D24):c.1397del:p.Pro466fs	coding	Pathogenic
16	2500824	CTCTACATCGATGGGGA	C	T2500825C	TBC1D24	NM_001199107.2(TBC1D24):c.1547_1562del:p.Leu516fs	coding	Pathogenic/Likely_pathogenic
16	2762740	CAA	C	A2762742G	SRRM2	NM_016333.4(SRRM2):c.2214_2215del:p.Arg739fs	coding	Pathogenic
16	2763307	CAAAG	C	A2763310G	SRRM2	NM_016333.4(SRRM2):c.2782_2785del:p.Arg928fs	coding	Pathogenic
16	2763497	CAG	C	A2763498G	SRRM2	NM_016333.4(SRRM2):c.2970_2971del:p.Gly991fs	coding	Pathogenic
16	2763953	CTT	C	T2763954C	SRRM2	NM_016333.4(SRRM2):c.3426_3427del:p.Ser1143fs	coding	Pathogenic
16	2764727	A	AGAGC	A2764732G	SRRM2	NM_016333.4(SRRM2):c.4200_4203dup:p.Ile1402fs	coding	Pathogenic
16	2765038	GAGCTCAACAACAAGTGTCTTACCCCCCAGAGAGAAAGAAGCGGGTCAGAATCATCAGTTGATCAGAA	G	G2765040A	SRRM2	NM_016333.4(SRRM2):c.4512_4578del:p.Asn1506fs	coding	Pathogenic
16	2765054	GTC	G	C2765056T	SRRM2	NM_016333.4(SRRM2):c.4528_4529del:p.Leu1510fs	coding	Pathogenic
16	2765936	G	GGA	C2765940A	SRRM2	NM_016333.4(SRRM2):c.5410_5411dup:p.Ser1804fs	coding	Pathogenic
16	2766567	GAC	G	A2766570G	SRRM2	NM_016333.4(SRRM2):c.6042_6043del:p.Arg2015fs	coding	Pathogenic
16	2767236	T	TG	C2767238G	SRRM2	NM_016333.4(SRRM2):c.6709dup:p.Ala2237fs	coding	Pathogenic
16	2767780	AGGAT	A	G2767782A	SRRM2	NM_016333.4(SRRM2):c.7254_7257del:p.Met2419fs	coding	Pathogenic
16	3013729	G	GTCA	C3013735A	CLDN9	NM_020982.4(CLDN9):c.370_372dup:p.Ile124dup	coding	Pathogenic/Likely_pathogenic
16	3027444	TC	T	C3027448A	THOC6	NM_024339.5(THOC6):c.893del:p.Pro298fs	coding	Pathogenic
16	3089383	TG	T	G3089385C	ZSCAN10	NM_032805.3(ZSCAN10):c.2050del:p.His684fs	coding	Pathogenic
16	3244154	GT	G	T3244165G	MEFV	NM_000243.3(MEFV):c.1759+99del	noncoding	Benign
16	3247551	TA	T	A3247553G	MEFV	NM_000243.3(MEFV):c.1357-306del	noncoding	Benign
16	3582696	GA	G	A3582700G	SLX4	NM_032444.4(SLX4):c.5154-4del	noncoding	Benign
16	3583191	G	GTGCC	C3583197G	SLX4	NM_032444.4(SLX4):c.5055_5058dup:p.Pro1687fs	coding	Pathogenic
16	3583328	A	AC	T3583333C	SLX4	NM_032444.4(SLX4):c.4921dup:p.Val1641fs	coding	Pathogenic
16	3583485	GT	G	T3583488A	SLX4	NM_032444.4(SLX4):c.4764del:p.Lys1588fs	coding	Pathogenic
16	3589246	GCTGTCGGCGGC	G	G3589249C	SLX4	NM_032444.4(SLX4):c.4381_4391del:p.Ala1461fs	coding	Pathogenic
16	3589378	T	TGG	T3589385G	SLX4	NM_032444.4(SLX4):c.4258_4259dup:p.Ile1421fs	coding	Pathogenic
16	3589522	CCGCCTGCTGAAGTGGGCGCGGTCCCCTGAGATGGGATGTGGAGCCAGCGGAGAGGAGTGCGGGTGGCCCCCGGGGTGGGGACGGGAAGGGCTTCTGTGGCCTTGCCTTCTGCCGTCAGAAGTTCCTGGAGAGA	C	C3589525G	SLX4	NM_032444.4(SLX4):c.3983_4115del:p.Val1328fs	coding	Pathogenic
16	3589741	CCT	C	C3589742G	SLX4	NM_032444.4(SLX4):c.3895_3896del:p.Arg1299fs	coding	Pathogenic
16	3589994	TGCAGCACAGCTTCGCTTCTTGGTGG	T	A3589997T	SLX4	NM_032444.4(SLX4):c.3619_3643del:p.Pro1207fs	coding	Pathogenic
16	3590355	GC	G	C3590356T	SLX4	NM_032444.4(SLX4):c.3282del:p.Glu1094fs	coding	Pathogenic
16	3590491	ATGAGACCCGCGGGGACTCCCGCCCTGGGGAGGCCCCAATAGGAAGCGGCACGGGTGCGGTGGAGATGCCTGCCAGGGAGCCAGGCGATGAGAAACCTCCAGCCCCCTTTCCCTGACAGCGCCACTTTGTTCCTCGGGCTCACTTGTTATTTGGGACGGCTCTGAGATCTCTCCCTGAGTTGATGAGAAGAGCTGTTCGTAATCCCCGGCATCATCTGAGTGCGGAAGAGAGCCTTCTTTTCTCTCTGCCTGGCAGTCCCTGGAAGGGCTGGAGCAGCTGGAATGGCCAAGCGCCTCCTCTGGCGCCTCCTGCTCAGGGGCCTCTGCTCCCCGTGCCCCTGAGTGCTGGCCCTGGGGTGGCGGGAGAGCGCACTGTCCCATCTTCTCCCAGGTGGTGGCGGCCTCATCTCTTCCTGGCTCCAACGGCTCCATCTCCTCCACCTTGTCCCACTGTTTCTGCACCTGGACACCTGCTAGGAGTTGCCCAGAAACCGGACTGCCACCCTCCAGCCAGTCAGCGTCCTCGCCGGCACCCGCTGCCCTTTCTTCCTGGAGAAGCTTTCGCTGAGTAGCTGCAAATTCATAAATTTCTTCCATTTCTGCTTCATTCACGTTTTCTTGATCTTCTTCGTGGTCCTTGGATTTCAACAAAGTCTCCGCTTCCTCCTCTTCATCTGCCCACATTGACCTCAAGAGTTCCTGGAAATTCTCGGCCCTGCTTTCGCAATTCTCTGCTTCCTTCTCCTCCCATGGTTTGCCCTCTGAGTCAGTGGCAATAGGCACCTGTTCGCACAGGTGAACGAGCTCACTCACGCCAAACCTGCAACACGAAACATCGACAGTCATCGCCCCTCTGCGTGGAGATGGGCTCTGGGTGCCCCGGTGGGGTGGCGGACCAGAGCAGAGTCTTCACCAGGAGGAATGACCATGACCCAGGCCCTGCTTCCCTTTGAAGACGGTGTCCACACTCCTTGCCAGAAACACCCAGGCCACTTAGTTCCAGAAACCGGGGACTGACAACACTTAAAGCAGGGCTTCCTAACTATAGCTGCAGACATAAAGGGGTGTGTCGGACTGAATGTAAGGTAACAGGGATTGGCAGAGCTACAAAACTGGGGAGTCTGTGCTGCCTCAGAGGCTCTTAAGATATGGTGTCAGAGCCAGGCATTGTGGCTCATGCCTGAAATTCCAGCACTTTGGGAAGCCGAGGATCACTCAAGGCCGGGAGTTTGAGATCAGCCTGGACAACATAGAAAGTCTCCATCTCTACAAAAAAATGTAAAAATTAGCCTAGGAGTTCAAGGCTACAGTGAGCTGTGATCATGCCACTGCCATCCAGCCTGGGCAACAGCAAGAGACTCTGTCTCTAAAAGGATAAAAAAGGTCATGCATGGTGGCTCATGCCCATAATCCCAGCACTTTGGGAGGCGGAGGCAGGAGGATTGCTTGAGGTCAGGAGTTCAAGAACAGCCTGGGCAACACAGCGACACTCCGTCTCTCCAAAAAATAAAAAATAAATGAAAAGACATGGCATCAGACACAATCCACAGCACACCAAGTCCTTGAGTCAGCCCAGGCCAACGGGCAAGCCAGCCAGCCACCTGCTTGAAGGCTCTGTGGCCCGTCAGTATATTTCCAACTCCAGAGGCTGAGCTGTTCCTTTCCTAAGAAAGCAGCGGAGGGAGGACGCAGGCTCGGATCAGCGGCCCAGGCCCTGTCCAGAGGCACAACACTTGTCCCTCTGAGCTGCTGCCTCTCTCCTAAGATGCTGGCTGGACAAGCCAGGAGAGCTGTGGCATCTGGGATGCAGCCTAAGCATTCTCTCCATGCCTGTTTTATGGGACTCTGGAAAGGACTGCTGTTGTTCAGGTCTAGTGGTGGAACAATCACTGAGCAGCAGTGTTGGGGGGCGCTGTAGCCAAGGGCCATTCTCTTATCACACCTAGGGGGTTAAAAACCACGGGACTCAATAGAGTCCTCCTGATCCAGTGCTTGGCACCCCTGCAAGGGTCTGTTCTGGCCTGACTTTCACCTAACATGCCCTGTTCCACAGGGTCATCACTGGTCATGGACTTGGGATTAAAAGGTATAAACAGGACTGTTAGTTCTCTTGGCCTCAGCCCCGAGCCCTCTGCAGCACAACCCTCCAGAGCTGTTAACCTGCCAGTCCTCGTCAGTTAATTTCAAAAGCTGGGGAGCAATCCAGACCTGTGGGCCAGGGAGCTCAGCTCAGAGCTAAGGCCAGGAGGAAGGCCAGTGTCCGCAGTGTAGAGATAGTGCAGGAACGTGCGGGCGGCCTCGGTGCTCACGTCACCCAGCAGGACACGCTGGGTCAGAACCCCGTCCTCTACAGCGGAGAAGCCTTCATTGTTCACCTGCAGGTGAAATGCAACACAGAGGGTTTACTGATCAGAGAGTTGTAACTTGGAGCAAAGCAGACGGTCTGGGGTGTCCTGCAAGTCACTAGTCTTTTTATTTTTCTTTTTAGAGACAGTGTCTCCCCTTGTCACCCAGGCTAGAGTACAGTGGTGTGATCATGGCTTACTGCAGCCTTGAACTCCTAGGCTAATTTTAAATTTTAATTAATTTTATTATTTTGAGTTGGAATCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCCACCTCCTCGGTTCCAGCGTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGCCGCCCACCACCATGCCCGGCTAATTTTTTATAGTTTCAGTAGAGATAAGGTTTCACTATGTTGGCCAGGCTGGTCTTGGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACTGCGCCCAGCCCCTAGGCTAATTTTTAAATTTTTTTGTAGAGATGGGCTCTCACTGTGTTGTTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCCACCTTAGTCTCCCAAAGTACGGGGATCTCAGGCATGAGCCGCCGTGCCTGGTCCCTAGTCTTAAAAGCAGCTCCATGCCCCAGGAAAAGCATTAGCCACTGTTTATGCAGATTTTTGGCCAATAATTTTACAGGTGAGGCCTAACACTCCTCTTTTGTCAAATCGTATTGGGACTAGATATTCCAGGACCCCGTTAAGAGTCCTCCTGATAGACACATATGGGATCCAGAACTTTGACAAAGACTGAGAATAGCTCCCTGAGTTCCTGCCCACACTCAAGTCAAATGCTTTCAAGTCAGAAGGCAGGTTCATCAGCAACTCATCCCTGAGGAGATCAATTATGAGCCTTTGTAATTATGCAAATAGAGAAAAGAGAAAACAATTCTGGGAAACAATGGATTTTCTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCATTGGAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACTGGTTTCACTGTGTTAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCAAACAATGGATTTTCATTCAACAGAACGAAAACACTGATGTTTCCCAGTTGTGAGGCCATCCCCTCACACCCACTCCTAACCTCAAGCGTGGGTCTTTATCTCTTCTCCACGTGTTGCAGAAACGGATGGTTGGGAGGGAGAAGGTGAGAACATGGTGGGGCAGGAAGTGAGGGAGAGTGGGGGGGTGGAAAGGGCACCTGAGACATGGGAAGACCTGGTTGGAGAAAGGCAGGAGGAGAGAGGGAGAGAGAGGAAAGGAGGGCACACGGCAGCCCACGTACTTACATACTGGATGAGGAGCGGGCATCGGGCATAAAGCACGAACTTGTGGGCGTAAAGCACCTCCCCGCTGTCCGTCTGAAACTGGACATCACTCAGGTGTGGGTTATTGACCATGGCGCCAAAGTCAGCAACCAGCAGCCCGAGGGAGAGCTGAAGCAGGAGGAGAGGAAGAGCCGTCACCTCCCCACCTCTGCTCTGCTAACTGGGCAGTGGGAAGCTCCCCGCATGGAGGTGGCGCTAGGGTGGGCCGGGAGCCAGGACCTGCATTCTCCTTTCCTCTCCAAAACGCTTCCCACGATGGCCTCAACCTCTGAGTGACCCTAAGGCCCTGAGTAGCACAGAAGAGCAAAGCACTAGCTTGTTCCTCTGGCTCTTGCCAGTGGGTTCCCTGGCCCCCGTGGAGATGCCAGACATGGGGCTAGATGTGAACTCACAGTGCTGGCAGCTCCCGCACTGAGTGGGACAGGCTGCGGGATACCTGGGCTTTGAGGAGGTGCACCCATCCCCTGTGACGGACAAGCACCCTGAGTCCAAGCAGCTCGGGGACCTGGCCAAGAGGACAGCCGGGTCCAGTCTGTGATGATGTCCCTAGGCTGGCCTTGGCATGAAGTGCTTGGTTGACACTGACATGCAAATGGGAGGAGGTCCACTCTAGGGAAAAGCCAGTTCCCACCCCGGTTCTTCCCCAGACAGCGCACTGACAGGGAGGCCAGGCCAGGCTGCTCAGCTGTGCTCTGGAGCCCAGGACCCGCACAGAGGGGAGGGAGAGCAAGCCCTTGGTGAGCTCCCAACTACTGAGGAACGAGCAGAGCGTGCCTGGATGGGGCAACCGCGCTGAGAAACTGTGGTCCCTCTACACTCCTGGGACCCAGGACAGGGCAGGCTCTGGGGCCTCAACCCCAAGGTGCCCCATGGAGTCACAGACAGAAAA	GG	A3590491G	SLX4	NM_032444.4(SLX4):c.2013+225_3147delinsCC	coding	Pathogenic
16	3590660	TCTCC	T	C3590663G	SLX4	NM_032444.4(SLX4):c.2974_2977del:p.Gly992fs	coding	Pathogenic
16	3590828	CCT	C	C3590829G	SLX4	NM_032444.4(SLX4):c.2808_2809del:p.Ala938fs	coding	Pathogenic
16	3591002	C	CT	A3591003T	SLX4	NM_032444.4(SLX4):c.2635_2636insA:p.Trp879Ter	coding	Pathogenic
16	3600976	T	TA	C3600978A	SLX4	NM_032444.4(SLX4):c.1163+2dup	noncoding	Pathogenic
16	3608875	GGAGC	G	C3608879G	SLX4	NM_032444.4(SLX4):c.86_89del:p.Arg29fs	coding	Pathogenic
16	3666365	CA	C	A3666367G	TRAP1	NM_016292.3(TRAP1):c.1236-248del	noncoding	Benign
16	3676364	CGGGCGGGGGGCGGGG	C	G3676374T	TRAP1	NM_016292.3(TRAP1):c.705-234_705-220del	noncoding	Benign
16	3727689	GA	G	A3727692G	CREBBP	NM_004380.3(CREBBP):c.*28del	noncoding	Benign
16	3727692	A	AG	A3727696G	CREBBP	NM_004380.3(CREBBP):c.*25dup	noncoding	Benign
16	3729003	C	CT	G3729005T	CREBBP	NM_004380.3(CREBBP):c.6043dup:p.Ser2015fs	coding	Pathogenic
16	3729013	C	CG	C3729017G	CREBBP	NM_004380.3(CREBBP):c.6033dup:p.Val2012fs	coding	Pathogenic
16	3729209	TG	T	G3729216C	CREBBP	NM_004380.3(CREBBP):c.5837del:p.Pro1946fs	coding	Pathogenic/Likely_pathogenic
16	3729471	AGGCGGTGCTGGATCTGCTGCT	A	T3729477A	CREBBP	NM_004380.3(CREBBP):c.5555_5575del:p.Gln1852_Arg1858del	coding	Pathogenic
16	3729750	T	TGTGGG	C3729751G	CREBBP	NM_004380.3(CREBBP):c.5296_5297insCCCAC:p.Glu1766fs	coding	Pathogenic
16	3731419	T	TG	C3731426G	CREBBP	NM_004380.3(CREBBP):c.4944dup:p.Ile1649fs	coding	Pathogenic
16	3736080	CCTCTT	C	C3736083T	CREBBP	NM_004380.3(CREBBP):c.4679_4683del:p.Glu1560fs	coding	Pathogenic
16	3736109	CTCTCT	C	C3736113A	CREBBP	NM_004380.3(CREBBP):c.4650_4654del:p.Glu1551fs	coding	Pathogenic
16	3736142	TC	T	C3736143A	CREBBP	NM_004380.3(CREBBP):c.4621del:p.Glu1541fs	coding	Pathogenic
16	3736156	TTC	T	T3736157C	CREBBP	NM_004380.3(CREBBP):c.4606_4607del:p.Glu1536fs	coding	Pathogenic
16	3736804	CCT	C	C3736805G	CREBBP	NM_004380.3(CREBBP):c.4404_4405del:p.Gly1469fs	coding	Pathogenic
16	3738314	T	TA	G3738330A	CREBBP	NM_004380.3(CREBBP):c.4394+230dup	noncoding	Benign
16	3757309	GC	G	C3757310A	CREBBP	NM_004380.3(CREBBP):c.3676del:p.Ala1226fs	coding	Pathogenic
16	3758852	AC	A	C3758853T	CREBBP	NM_004380.3(CREBBP):c.3369+1del	noncoding	Pathogenic
16	3770875	G	GA	G3770877A	CREBBP	NM_004380.3(CREBBP):c.2574dup:p.Pro859fs	coding	Pathogenic
16	3773777	G	GCAGC	T3773779A	CREBBP	NM_004380.3(CREBBP):c.2436_2437insGCTG:p.Pro813fs	coding	Pathogenic
16	3777365	G	GAAAT	G3777387A	CREBBP	NM_004380.3(CREBBP):c.2158+228ATTT[6]	noncoding	Benign
16	3778729	CT	C	T3778731C	CREBBP	NM_004380.3(CREBBP):c.1911del:p.Asp639fs	coding	Pathogenic
16	3781198	TCTTA	T	A3781202T	CREBBP	NM_004380.3(CREBBP):c.1676+2_1676+5del	noncoding	Pathogenic
16	3810726	TC	T	C3810728A	CREBBP	NM_004380.3(CREBBP):c.851del:p.Gly284fs	coding	Pathogenic
16	3850513	GC	G	C3850515A	CREBBP	NM_004380.3(CREBBP):c.581del:p.Gly194fs	coding	Pathogenic
16	3851288	CA	C	A3851304T	CREBBP	NM_004380.3(CREBBP):c.86-280del	noncoding	Benign
16	3879869	TT	A	T3879869A	CREBBP	NM_004380.3(CREBBP):c.47_48delinsT:p.Lys16fs	coding	Pathogenic
16	4335096	GACCATGTCAACGATT	G	C4335107G	GLIS2	NM_032575.3(GLIS2):c.570_584del:p.Asn190_Val194del	coding	Pathogenic
16	4786154	G	GT	C4786160T	SEPTIN12	NM_144605.5(SEPTIN12):c.167-54dup	noncoding	Benign
16	4797980	C	CG	A4797983G	ROGDI	NM_024589.3(ROGDI):c.652dup:p.Arg218fs	coding	Pathogenic
16	4798055	AG	A	G4798059T	ROGDI	NM_024589.3(ROGDI):c.645+15del	noncoding	Benign
16	4798122	CTTGTTGAGGTTGA	C	T4798124G	ROGDI	NM_024589.3(ROGDI):c.581_593del:p.Ile194fs	coding	Pathogenic
16	4798806	TAA	T	A4798808G	ROGDI	NM_024589.3(ROGDI):c.433-141_433-140del	noncoding	Benign
16	4799672	C	CG	C4799678G	ROGDI	NM_024589.3(ROGDI):c.432+13dup	noncoding	Benign
16	4801601	AAGGAGGGG	A	G4801604C	ROGDI	NM_024589.3(ROGDI):c.118-24_118-17del	noncoding	Benign
16	5072190	C	CG	T5072193G	ALG1	NM_019109.5(ALG1):c.208+135dup	noncoding	Benign
16	5075395	C	CCA	A5075396C	ALG1	NM_019109.5(ALG1):c.398_399insCA:p.Gly134fs	coding	Pathogenic
16	5077985	GCTGGGCAGCATGCACT	G	G5077988C	ALG1	NM_019109.5(ALG1):c.711_726del:p.Gly238fs	coding	Pathogenic
16	5078737	CT	C	T5078744C	ALG1	NM_019109.5(ALG1):c.741-13del	noncoding	Benign
16	5078798	CGGAGCGGGATGCTG	C	A5078807C	ALG1	NM_019109.5(ALG1):c.791_804del:p.Asp264fs	coding	Pathogenic
16	5080073	C	CT	G5080090T	ALG1	NM_019109.5(ALG1):c.961+282dup	noncoding	Benign
16	5082333	C	CA	C5082341A	ALG1	NM_019109.5(ALG1):c.1073-219dup	noncoding	Benign
16	5084738	AT	A	T5084745G	ALG1	NM_201400.4(EEF2KMT):c.*893del	coding	Benign
16	7579909	CA	C	A7579912T	RBFOX1	NM_018723.4(RBFOX1):c.406del:p.Met136fs	coding	Pathogenic
16	8764843	GCA	G	C8764864G	ABAT	NM_020686.6(ABAT):c.540+14CA[10]	noncoding	Benign
16	8768375	CA	C	A8768376C	ABAT	NM_020686.6(ABAT):c.667+120del	noncoding	Benign
16	8781189	TGATG	T	G8781214A	ABAT	NM_020686.6(ABAT):c.1382-119GATG[6]	noncoding	Benign
16	8797895	GGCCCAGC	G	C8797898T	PMM2	NM_000303.3(PMM2):c.16_22del:p.Pro6fs	coding	Pathogenic
16	8797937	GC	G	C8797941G	PMM2	NM_000303.3(PMM2):c.59del:p.Pro20fs	coding	Pathogenic
16	8801802	AT	A	T8801804A	PMM2	NM_000303.3(PMM2):c.72del:p.Thr25fs	coding	Pathogenic
16	8801804	T	TA	C8801806A	PMM2	NM_000303.3(PMM2):c.73dup:p.Thr25fs	coding	Pathogenic
16	8804785	ATG	A	G8804789T	PMM2	NM_000303.3(PMM2):c.201_202del:p.Phe68fs	coding	Pathogenic
16	8804828	ACT	A	C8804831T	PMM2	NM_000303.3(PMM2):c.243_244del:p.Leu82fs	coding	Pathogenic
16	8806322	CAA	C	A8806324G	PMM2	NM_000303.3(PMM2):c.264_265del:p.His90fs	coding	Pathogenic
16	8811106	GATGTT	G	T8811108A	PMM2	NM_000303.3(PMM2):c.377_381del:p.Met126fs	coding	Pathogenic
16	8811635	CAGAA	C	G8811641A	PMM2	NM_000303.2(PMM2):c.451_454delGAAA	noncoding	Pathogenic/Likely_pathogenic
16	8811646	TATAAG	T	T8811648C	PMM2	NM_000303.3(PMM2):c.458_462del:p.Ile153fs	coding	Pathogenic
16	8811646	T	TA	T8811648A	PMM2	NM_000303.3(PMM2):c.457dup:p.Ile153fs	coding	Pathogenic
16	8811712	AG	A	G8811714T	PMM2	NM_000303.3(PMM2):c.523+1del	coding	Pathogenic
16	8847377	T	TAAA	C8847394A	PMM2	NM_000303.3(PMM2):c.640-333_640-331dup	noncoding	Benign
16	8847377	T	TAA	C8847394A	PMM2	NM_000303.3(PMM2):c.640-332_640-331dup	noncoding	Benign
16	8847377	T	TA	C8847394A	PMM2	NM_000303.3(PMM2):c.640-331dup	noncoding	Benign
16	8847439	G	GA	T8847445A	PMM2	NM_000303.3(PMM2):c.640-280dup	noncoding	Benign
16	8847779	CA	C	A8847780G	PMM2	NM_000303.3(PMM2):c.696del:p.Ala233fs	coding	Pathogenic
16	8894529	C	CG	A8894539G	USP7	NM_003470.3(USP7):c.3202+20dup	noncoding	Benign
16	8894529	CG	C	G8894538A	USP7	NM_003470.3(USP7):c.3202+20del	noncoding	Benign
16	8894529	CGG	C	G8894537A	USP7	NM_003470.3(USP7):c.3202+19_3202+20del	noncoding	Benign
16	8903312	T	TC	T8903314C	USP7	NM_003470.3(USP7):c.1794dup:p.Asn599fs	coding	Pathogenic
16	8923347	GACTC	G	C8923353G	USP7	NM_003470.3(USP7):c.247_250del:p.Glu83fs	coding	Pathogenic
16	9760374	ATTTTTT	A	T9760393G	GRIN2A	NM_001134407.3(GRIN2A):c.*2769_*2774del	noncoding	Benign
16	9763107	TTACGTATATTTCCCTATAGATAAAACATTAATGGAAGATTTTTAAACATCAGATTCGATACTAGGCATTTTCTTGTACACGCGTCTATTGCTGCAGGAATTTAAAACCCTGGGGGTAGAGTACATATTATTCTTATTTGCAGCATAAGGCATAACATGCTCCGAAATATACACATCATTGTGGCCCCGACTGTCCCTGGAACAGTACGATGCCGTTGACCTCAAGGACGACCGAAGATAGCTGTCATTCACCGCCTGGGATGGCAACGAGTGTTTGTAAGGGTCCGAGGGGCATCTCCCAATAACCAAGCGTTGGTCATCCCTGTGGGAGTGGAGGAAAGGGTTATCGGAGGTGTGGTCTGGCAAGAGAGACTTGCTCCTCTTGCTGTCCTCCAGACCTTGGGGGAAAAGGGAGCTTTTTTTCCCCGAGAGTTTGCTTGAGGGGACACTAAACAGGCTGCCGTAAAAATTTCCCTCCAGAAGCCGTTCCCTGTCCTTGAGGCTTATGCTCCGGGAGGGCCTGCTAAGGTCTAGCTCCCTAGGTTTGTCGACAATGTTATCGTAGGAATGCTGACGGCTAATCCTTAGCTTGTTCTTTTGTAATTGAAGGGCATTGTTCTGTGCCCAGTCCTGCTGGTAGACCTGCTCCCCGGTGGCTGGGTTACCTGTCTCCTGAAGCATCTGGTCTTCATCGATGTCATAGAGGTTCCCCATCCGCAGGCAGGCATCGCACTTGAAGGGGGACCTCATGGTGAAGTGGCCTGAATAGGTGGGCATGTTGGAAAGGCAGCTTCTGCAGTGCGTGGAGTTCTGCCGGTATCGCTCGCTGGTCTCACTGTGCGGGGAACCCTTGTCTTTCAAGGTGAAGTGCTTGGAGTAGAGTTTATACTGGTCGTTGTTGGAAAGCCCCTCTTCATTATGCAAGGGGTTCCGGTTCATTGGCAGCGTGGAGTCCCCCTTGCGGAAGTTTTCACTGGGATCCTGGTAGGGGTCCGGGAAGTCCACGTTCTCGGGCAGGGTCACATTTTCAACAAACTGGGGTGGATCTAAGTGGAAACCAGGCTCCTTCTCACCATCTATAGTGTAGATCTTGTCTCTAGGGGAGCTTGATTTGGTTTTCAGGTAGGTGCGCTCGACCTCACTACAGTCCTTGGGGTATTTGGAGGCCACTGACCTTTTAAAGTTGTCCTTGGTTTTGTGGTTCTTACTGTTGTCAGGTTCCCTGTGGCACGTGGCCCGATTTGACGTTTCTGAAATGTCAGAGTGGGCCATCTCTTCTGGAAGATACCTAGGGCTCTTTAGGGAGTGGGTCCTATTCTCTGCTGTTGCCTCATCCCTCTGGGAGACTGGATTCTGGGATAGTGAATCCTGGCGTATGGAATCCACGGATTTCTTCCACAGCTGCCGGGGTCTAGAGTTCGCTTTGGATTCTGTGCTCACGGCCACCTCCACCGTGTTAGGGTTGGACTCATTGAGAGTAAGAGGATGTTGTCCCTGGAATACATAGTTATTGAGGTTATCCTTCTGCCGGTTGGCCACAAATGTTTGGAGTTCGTTCATGTTGTCTCCAAAAATGCTCTCTTTCCCCTGAAAGGACCTGTTGTCTGAGTACATCAAATTCCCCTTATCTGAAACCATGTCCATGATGAGGGAACCTCTTTGGATGAAGTCAGCAGCTCTTTTGGGTGAGTCCATTCTTGAGGAGTTCATGTTGGACATGCTGGAAATGTTTTTGGCTGACCGGAGGAGTTTTAACATGTTGCTCTGGGATCCCGTCAGATTGAAGTCTGGAGACTTCTTCTTTTCTTCAATGTGCACTCCATGAATGCAGCTGTAGATGCCCTGTAGGGGAGCAACATAAAGCACTGTCAGCAGCAGCAGCAGTGAACATGAAACCACTTTGCACTTGAACTTTACCTGCAAAGGTGAGATTTGCACTTCTTGCAGGAGCCCTGGAGAAACAGCAAAATTCAGTCTGAATCCTGATAATGTCTCTTAAAGGTATGAGACAAGTTGCAAAGCATAGGGTTTATCTTATTGCTCTGGCTCAAGATTAGCTGACACCTTTGCAAAGAGTCACACATGGAGTTTGAGAAAAGGTATCAACCGATGCTCATACAACTGTCAATGCCTCAGTGTCTCCAAAGTGGCATATAAGAACAGATAACTGAGCCTCCCAGCACCCGGGTCACCAATCCAAGCTTTCATTAAAGTTTCCCAGCATCATCTTTGAAAGTTTAGGCACCAGAGAGTTAACTACTGACAAACACAGTCAGCATGAAAGGATCATCCATTGTTAATTCTTTTCTGGAATTACCCCTACTCTTATGCAAAAGCTAACAATCAAAGAATGTGTCCTAAGTGGCCAATCAGAAAATCTCTTCTCCATGCACACATTGATTCATCTAAAGGAAGGCATGAAATTCATGTGAGGCTCATCATACTCTTTGAGGGGGGGATAGATGTGGATGCTTGGATAGAAGGAGTTGCAGACTTACCATCATGTGGGGGTGTGAGCCTATCAGTGAAGCCATTGCAGTGAAAAGTAGAGCCCAAGAGATAGAGAAAGACATGGTTTAAACCCCTGGAGCCACTCCCTTGAACTTTTTTACTTAATCGACTCAATCTATTCCTTGTGTGTTTGTTTGTGTGTGAGTCTATTCAATGTAGTTAGAACTGGGTTTTAGTTACTAGTCACAGTGAAGAGTTCTGATGACACAGTGACACCGCCTTTAAATCCATCCAGGGAACTGAATGACTTAAGGGCTCCTGGGCAGCCCAAATACAAGCACCTCCATCTATATGTCTTCTCATTTTCTACTCTTTCTTTCTTTTAGAAAACAACTGTTTACGTTCACTTAAAAGTAGCTGTTCAACTGTTATCAAGGGAAGAGCCCTTGATTCCTACCACAATAACAGGCAAAAGGACGTCTGGAACATTTTGATCTGTGGCTTCCCCTGCTTCTCCCCACTCCTACCCCAGATTTCAGCAGCCGTACCTACAGGAAACAGTCAGATCAAGGCTGCAGGATTTGACCTGGTCTTCCCAAGGCTGACAGGGAGCCAAACTATGAAGGGGTTTGTAGGGCAGAATTGGCAGTGGCTGCTGACTTTGGCATAAACTACAGGAAAGTAAGTGTGATTAACTGTGGACTCTGATAATGGTGGCTCCATCGGTCCCCCATGGTGGGGACAAGCTCACCCTGCAGGGATGCTCACGGAACTGTGACAGCCTCAACTCATTTTCACTGCTACATTTTTCTTGTAGTAGACAGTCTCTCCACTCCAGCCTTCAAGGAACCGTAAACACAAAAGCCTACAGTTGCAAGTTTGAGCTGCTCTTTCTCTGATCCTCTCCACCCCAGGCTTCATGGTTGGTGAAGGCCCCCTGAGGCTCAGGGCACTGGCATTACATCCTTTCCTGCATTCCTGCAAACTTATCTGTGGTCTCCTTCTATATATAATGTGTGGTTGGCTGTTTGTCCTGCCACAAAATAACATCTGCCCCTGCCATCACTGCTTCCAGAGCTGCTGGAGCATCCAGACTGTGGATGTGGAAATCTTACAAATGAGCCACTGCGCTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAATAAATAAGTAAATAAATCAAATCAAATCAATCAATCAATCAATAAAAGCACATTGCTCCCATAAAACTTGGGGTCCTTCTCCCCTAGGGATGGAGAGGCCAAAGTTCAAATTCTAGATGATCAAGGGACTCCACCAACAATGCCTGCCCTGTGCTGCCCAGTTTGCCTTCCATTCCCATCCTTTGGAAAGGAAGATATGGATTTACTTCATTTCTTAAAATGTTGATAAATCAACTTGGCTTCCTTAGCAGTGTTTTAGATAGATAGAGGAAATGCTCTTCCAAAAACAAGCAAGATTTAGAAGTAAACGCAACAGTGTGCATTTGTTTGGTGCTAATCCCAGAATCATTTGGATATGAAAAGCCTTTGGTAATTGGCTGGGAGAATTAGCTTAAAGTTGGCATAATACCTAGCTCTATGCACGTACGTTGTTATTTTTAAGCAATCTATGTGTTTAGATGCCATCAAGCTAATTAGGAAATATGTATTTGCACAGAACCCGAGTTTGGAGTGCAAGTGAATGGAGAAAATAAATCTTCCTCACTAAACTAATGTGTACCTTCCGAATCTCCACAGTTCTTGAAACTAGCAAATGTTAAGAATATACAAATCTGTTTTAAAGCAATTAGTTAGCTTTCTCAGTAAACAATAGCATATAAAATTAGATTTTTATTTATTTATTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCTGTGTTGGTTTGCTGCAATTAGATGTTTTTAACCAAAGAGTTTTCACCATTTTTCAAATCCTAATTAATGAAGTTCTTCCAAGGCAAAAAAACAAACAAAAACAAAAAAAAACACAAACAAAACAAAAAAACAAACAAAAAAACAAGGTGGGCAAATAAGAGAGATGAGTGGATAAATAGATGGATGCATAGATGGCTGAAACGAATGAATGGACATATAGATAAGAAGGTAGATACATATGTATTTTGTGCTGTTGTTTATGTTGAGTTGAAGGTAAACTTTGTTTTCTGCTTGATACGTGTGCATTTTCTTCTGTTACTTTACACCTGTGTTTCCTTTCATGTGCTATTGCATTCCACATGCTCTTTGTGTTTTATTAGATGTGTATACATATTCCATAGCATTGCAAGTAGATTTTGTTTTGTTGGGCATGTTCTGTTACAATGCATACACAAATTGTAACATCTTGCATAGCAGCATTAGTAGTGTTATACAGCATACCTGGGTGCTAGTGATGGGAGCCACAGGCTGGCTCTGTCTGGCCCAGTGTTTTTAAATTTTTTTTTATTTTTTGTTTTTATTTTTTTGTGAGACGGAGTCTCGCTCTTTCACCCAGGCTGGAGCTGGAGTTCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGGGTAGCTGGGACTACAGGCGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGAAGGGGGGGGTCTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGTGCCCGGCCAAAAAATTTTTACATGGAATTAGTTACTAATATTTAAAAATGGAAAGGTTTCTAACAAAATCAGATGACATTTTCTCTTTTTAAAAAACTAGAAGACCTGATAATATTGACTCTACATTCCCATAAGACAATACTCAGCAGGAGTTGAGGATGGCTGCCACGCTACTGGTGAGGTAAACATCATGCAATTGGCCACAGTCCTCAGTATTCCCTATCGTTCTCTCACTTTGATACTGAGGTTTAGCTGCCGTTTCACGTCATCTGTGCTATTTTTCTCATGTCCCGCCTGCTGCACCCACTCCCGTTTCCTTTCTGCCTTCCTTAGTCATCTAAGTTTGCAACACCTGGCTTATGAATGCACAAAATCTGGATGCTCTTGTGACATGCCCAAGAAAGGCTGGTAAGGGGAGGAAGTGCAGACCCCACTGAGACATCAAGAACCCAAGCGCTTTTCTAAACCTGCTTGCAGTGCAAGAAAGTAGCCACCCGGTGTACTGACCCTGCTGATGGAGAAGAGCAACCCAGGCCGGTCGGAGCACACGCCCGTGAAACAGAAGCGCAGCTTCCAGTAGAAGAGGTGCTCCCAGATGAAGGTGATGAGGCTAAGGGCCATGGCGGCAGCCAGCATGTAGAATACGCCCGCCATGTTGTCAATGTCCAGCTGGCTGCTCATCACCTCGTTCTTCTCGTTGTGGCAGATCCCAGTGAGCCACAGGGTCTCCAGCTCCTCCATCTCACCTGGACAGATCACAACATTCACAGGCAGTGAGGACCAGAA	T	T9763108C	GRIN2A	NM_001134407.3(GRIN2A):c.2357-40_*41del	noncoding	Pathogenic
16	9763223	TA	T	A9763224G	GRIN2A	NM_001134407.3(GRIN2A):c.4320del:p.Thr1441fs	coding	Pathogenic
16	9763850	A	AC	T9763853C	GRIN2A	NM_001134407.3(GRIN2A):c.3693dup:p.Ser1232fs	coding	Pathogenic
16	9764185	A	ACACC	T9764186C	GRIN2A	NM_001134407.3(GRIN2A):c.3358_3359insGGTG:p.Ile1120fs	coding	Pathogenic
16	9764710	T	TCTGAA	G9764715A	GRIN2A	NM_001134407.3(GRIN2A):c.2833_2834insTTCAG:p.Asp945fs	coding	Pathogenic
16	9798256	AG	A	G9798260T	GRIN2A	NM_001134407.3(GRIN2A):c.2356+20del	noncoding	Benign
16	9834179	AC	A	C9834180A	GRIN2A	NM_001134407.3(GRIN2A):c.1702del:p.Val568fs	coding	Pathogenic
16	9840813	CA	C	A9840833G	GRIN2A	NM_001134407.3(GRIN2A):c.1498-14del	noncoding	Benign
16	9840832	AAG	A	G9840844A	GRIN2A	NM_001134407.3(GRIN2A):c.1498-44CT[5]	noncoding	Benign
16	9849889	AG	A	G9849890T	GRIN2A	NM_001134407.3(GRIN2A):c.1194del:p.Cys399fs	coding	Pathogenic
16	9938152	ACT	A	C9938155T	GRIN2A	NM_001134407.3(GRIN2A):c.812_813del:p.Glu271fs	coding	Pathogenic
16	9938320	GT	G	T9938321G	GRIN2A	NM_001134407.3(GRIN2A):c.645del:p.Gln216fs	coding	Pathogenic
16	9938560	GA	G	A9938564G	GRIN2A	NM_001134407.3(GRIN2A):c.415-10del	noncoding	Benign
16	10180392	C	CA	T10180395A	GRIN2A	NM_001134407.3(GRIN2A):c.19dup:p.Trp7fs	coding	Pathogenic
16	10182084	GAGA	G	A10182087G	GRIN2A	NM_001134407.3(GRIN2A):c.-229_-227del	noncoding	Benign
16	10182601	TC	T	C10182607T	GRIN2A	NM_000833.5(GRIN2A):c.-210+52del	noncoding	Benign
16	10532740	AT	A	T10532750C	EMP2	NM_001424.6(EMP2):c.*164del	noncoding	Benign
16	10532752	T	TTTTTTC	T10532764C	EMP2	NM_001424.6(EMP2):c.*147_*152dup	noncoding	Benign
16	10532763	T	TC	T10532764C	EMP2	NM_001424.6(EMP2):c.*141_*142insG	noncoding	Benign
16	10537760	C	CCA	G10537782A	EMP2	NM_001424.6(EMP2):c.316+148TG[11]	noncoding	Benign
16	10902659	GC	G	C10902661T	CIITA	NM_000246.4(CIITA):c.632del:p.Pro211fs	coding	Pathogenic
16	10902809	CG	C	G10902813C	CIITA	NM_000246.4(CIITA):c.772+12del	noncoding	Benign
16	10903756	A	ACC	T10903762C	CIITA	NM_000246.4(CIITA):c.802_803dup:p.Pro269fs	coding	Pathogenic
16	10906874	A	AT	G10906876T	CIITA	NM_000246.4(CIITA):c.1383dup:p.Ala462fs	coding	Pathogenic
16	10906990	GGCTTCGAGGA	G	T10906994G	CIITA	NM_000246.4(CIITA):c.1502_1511del:p.Phe501fs	coding	Pathogenic
16	10907027	A	ACTTGCGGT	A10907029T	CIITA	NM_000246.4(CIITA):c.1536_1537insTTGCGGTC:p.Ser513fs	coding	Pathogenic
16	10907354	C	CA	G10907356A	CIITA	NM_000246.4(CIITA):c.1863dup:p.Glu622fs	coding	Pathogenic
16	10907447	GC	G	C10907454G	CIITA	NM_000246.4(CIITA):c.1962del:p.Ala656fs	coding	Pathogenic
16	10907978	TC	T	C10907982G	CIITA	NM_000246.4(CIITA):c.2490del:p.Gly831fs	coding	Pathogenic
16	10908017	CT	C	T10908018C	CIITA	NM_000246.4(CIITA):c.2526del:p.Pro843fs	coding	Pathogenic
16	10910199	C	CTG	C10910200T	CIITA	NM_000246.4(CIITA):c.2828_2829insTG:p.Ser944fs	coding	Pathogenic
16	10918454	ACAT	A	T10918457C	CIITA	NM_000246.4(CIITA):c.3080_3082del:p.Ile1027del	coding	Pathogenic
16	10918532	TG	T	G10918536C	CIITA	NM_000246.4(CIITA):c.3149+10del	noncoding	Benign
16	11254998	T	TGCCGC	G11255001C	SOCS1	NM_003745.2(SOCS1):c.480_481insGCGGC:p.Met161fs	coding	Pathogenic
16	11254998	T	TGCGGC	C11255011G	SOCS1	NM_003745.2(SOCS1):c.476_480dup:p.Met161fs	coding	Pathogenic
16	11255454	CT	C	T11255455G	SOCS1	NM_003745.2(SOCS1):c.24del:p.Ala9fs	coding	Pathogenic
16	11551845	C	CAAGT	T11551850A	LITAF	NM_001136472.2(LITAF):c.377+1684_377+1687dup	noncoding	Benign
16	11551880	TA	T	A11551886T	LITAF	NM_001136472.2(LITAF):c.377+1652del	noncoding	Benign
16	11551920	CT	C	T11551933A	LITAF	NM_001136472.2(LITAF):c.377+1612del	noncoding	Benign
16	11551920	CTT	C	T11551932A	LITAF	NM_001136472.2(LITAF):c.377+1611_377+1612del	noncoding	Benign
16	11553916	CCA	C	C11553917G	LITAF	NM_001136472.2(LITAF):c.221-229_221-228del	noncoding	Benign
16	11557064	G	GT	G11557074T	LITAF	NM_001136472.2(LITAF):c.-5-338dup	noncoding	Benign
16	13926725	CTT	C	T13926729G	ERCC4	NM_005236.3(ERCC4):c.557_558del:p.Phe186fs	coding	Pathogenic
16	13930831	CA	C	A13930832T	ERCC4	NM_005236.3(ERCC4):c.915del:p.Asn308fs	coding	Pathogenic/Likely_pathogenic
16	13944503	AAGT	A	G13944508T	ERCC4	NM_005236.3(ERCC4):c.1905-215_1905-213del	noncoding	Benign
16	14447001	CCT	C	C14447002G	PARN	NM_002582.4(PARN):c.1749_1750del:p.Glu585fs	coding	Pathogenic/Likely_pathogenic
16	14482683	TG	T	G14482688T	PARN	NM_002582.4(PARN):c.1624del:p.Gln542fs	coding	Pathogenic
16	14482840	GA	G	A14482849T	PARN	NM_002582.4(PARN):c.1481-14del	noncoding	Benign
16	14554434	AT	A	T14554448G	PARN	NM_002582.4(PARN):c.1319-284del	noncoding	Benign
16	14580878	TA	T	A14580885G	PARN	NM_002582.4(PARN):c.1257del:p.Phe419fs	coding	Pathogenic
16	14582296	G	GA	G14582305A	PARN	NM_002582.4(PARN):c.1082-6dup	noncoding	Benign
16	14584492	A	AC	A14584500C	PARN	NM_002582.4(PARN):c.1006-77dup	noncoding	Benign
16	14584801	AT	A	T14584806A	PARN	NM_002582.4(PARN):c.963-11del	noncoding	Benign
16	14584931	TA	T	A14584934C	PARN	NM_002582.4(PARN):c.963-141del	noncoding	Benign
16	14599932	G	GA	T14599937A	PARN	NM_002582.4(PARN):c.811dup:p.Ser271fs	coding	Pathogenic
16	14610777	GTCTT	G	T14610782C	PARN	NM_002582.4(PARN):c.417_420del:p.Glu139fs	coding	Pathogenic
16	14617382	CAA	C	A14617403T	PARN	NM_002582.4(PARN):c.388+206_388+207del	noncoding	Benign
16	14617382	CA	C	A14617404T	PARN	NM_002582.4(PARN):c.388+207del	noncoding	Benign
16	15661187	CACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGACTACAGGCACCCGCTGCCAGGCCTGGATAATTTTTTGTATTTTTAATAGAGACAGTGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCCTAACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGAGTTTTCCTTTTGATTGTCCTTTTTTTTTGAGACGGGATCTTGCTGTGTTGCCCAGGCTGGAGTACAGTGGCATGGTCATGGGTCACTGCAGCCTCGACCTCTCCTTGCCCCTCATCCTCTCGAGTAGCTGGAACTACAGACACACCACCATGACCAGCTAGTTTTTGTATTTTTTGTAGAGATAGGGTCTCACCAGGTTGCCCAGGCTGGTCTGGAACTCCTGGGCTCAAGCATTCCACCTGCTTTGGCCTACCAATGTGCTGGGATTACAGGTGCGAGGCACTGCACCCAGCCACCTTCTGGAAGTCTTTATCTCTGGTGATGGGGATGGTGGCGGCACCCAATTGCCTAAGGTAGAGCCCCAGAAGATGTCCTCACCTCCTTTTTCTCTCTCCCCTGCCCCGAAAAGTCATAATTCATCAAGTTCTGGTAAGTTTGCCTTCTAAATATTTTTGGAGTCCATTTCTGTTCCCTCCATCTTCATTCCTACTTTCTTTTTTTTTAGACAAGGTCTCACTCTCTTGCCCAGGCTGGAGTGCAGTACCGTGATCATAGCTTACTGCAGCCTCAAATTCCTGGACTCATGTGATCCTCCTTCCTCAGCCTCCAGAGTAGCTAGGACTACAGATGTGTTGCACCACACCAGTCTAATTTTTTAAAAAGTTTTTTTGTCAAGGTAGGGTCTTGCTGTGTTTCCCAGGCTGGTCTTGAACTCCTGGTCCCAAGTGGTCCTCTTGCCTTGGCCTCCCATAGTGCTGGGATTATACGTGTGAGCCACTGTACCTGGCCTATTCTCACTTTCTAATTCAGGCCACGTTCCTTTCTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGATCTGTCGCCCAGGCTTGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCTTCCCAGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACAGGGTTTCACCGTGTTAGACAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGTCTCTTTTCTTTTTTAAATAGGATCTCACTTCATCACCCAGGCTTTAGTGCAGTGGCACTATCTTGGCTCACCGCAACCTCTGCCTCCTGTGCTCAGGTGATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGAACACAGGCATGTGCCACCACAGCTGGCTGATATTTTTCTATTTTTAGTAGAGACGGAGTTTCTCCATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCGATCTGCCTACCTTGGCCTGTCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCTGGCCTCCACCTTCCTTTCTTTCTTGCATTGCTGCAGGAGCTCCCCATCTTAGGCCTTGTCCTTCCTCTGCCTGTCCATGGCCACCAGGACCAGCTTTTTAAGCAGGAGAGCCCATCATATCACATCACTCTCTTCCCTAACTTTCTCCAATGGTTTCCCATTGCCACTAAGTTTCTTAACATCTTGCAAAAGCCGTCTGTGACTTAGCCCCTTTATTTCAGTCTGTCCAGGTAGGTTCCCTTCCACTCGTCACCTTTCAACCCAGGCTTACCAGACTCCCTCTAGCTCCCCTACAAGTGCCTGGCTGTTTCTCCTCATTCCTTCTTCCCCTGCTCAATTACCATTGCCTTCCAGTTCTTTCATATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCGCCCAGTCTGGAGTGCAGCGGCACGATCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGTGATTCTACCGCCTCAGTCTCCTGAGTAGCTGGGAGTATGGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTTTTTAGTAGAGACGGAGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGCCCTCGTGATCTGCCTGCCTCAGCCTCCCAGTGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCTTTTTCATATTCTTTCACATGCTCCTCATGTGTCGCCTCTTCTAGGAAGCCTTCCTTGACTTTCGGGTTGAGTTTTGAACTTCTTAAATATCCTGGGCACTGATAGAAATGTATTTTCAGGTGCATACATATTTCAGAACACACCAATGTGTATACTCAAATATATGCAATTTATTGCATGTCAAAATCCTGTGCACATTTCTGTGGCTATACTAGGCACATAGTTTTATCATAATTTACATGGGGTTGGGTGCGGTGGTTCACGCCTGTAATACCAGCACTTTGGGAGGCTGAGGTGGGTGGTTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAAAATCGCAGTTGCTCGGGAGGCTGAGGCACAAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGAGTCTGTCTCAAATAATAATTATAATTATTATTTTATGCGTAATTTCCATTCCAGCCCCCACTCCCCCACTCCCTCCACCAGACTGTGAGGCCCCTTTAGGGAAGGCAGGCATCTTGGAGACGTTTTATGTGGCTCCCTAGGTCCTTTAGTAGGTGCTCAATAAATATTTGCATAGGGATATCCATGAGCCTTGATGTTAACCCAGGGAATATAACAGGTGAGTGGATTGTGTTTTGTTTGGGTTTAGCTTCAGATTTTTGGCAGTATTTAATCATTTAACCCAGCATAAAGTTTATTTATTTATTTATTTATTTTGACACAGAGTCTCGGTCTGTCACTCAAGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCACCTCCTGAGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCAGCTAATTTTTCGTATTTTAGTAGAGACGGGGTTTCACCATGTTAGCTAGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCAAGTTTTTTTTTTTTTTTCTGTTAAAGGGGATCAGCTGTTTAACCAGATGTGGGTAATCATTTTGAAACCTTCTCTCCTAGACACCATGCCACAAGGAGAGTGATCTCTTCCCCTGTTTTCACAATGGAGGACTCCGGAAAGACTTTCAGCTCCGAGGAGGAAGAAGCTAACTATTGGAAAGATCTGGCGATGACCTACAAACAGAGGTCAGTCCGAGTTCACCTGCTTTTCCTTTTTTTTTTTTTTTTGAGATGGGGTCCTGCTATGTTACCTAGGCTGAGTGCGGTGGCTGTTCCTAGGCGTGATCATAGTGCACAGCCGCCTTAAACTCCTGGGCTTAAGCGATCATCCTGGCTCAGCCTCCCAAGTAGATGGGACTATAGGTGTGCTTCATCAGGCCAGGCTTTTTTTTTTTTGGCGGAAACAGGGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATGCACCTCTGCCTCCCACAGTGTTGGGACTACAGGTGTGAGCTCTCTTTTTTCTATAAAAAGAACAGCAACCATTTATTGCAGGCCTATATGTGCCAGGCAGTGTGAAAGGCTTAACTTACACTATCTCAAAACTGCCTGTGAAAAAACTATTAGCACCCCATTATATAGATGAAGAAACTGAGCCTCAGTGAAGGCAGATAACTTGCTCACAGTCACACAGCCAATAAGTAGCAGAGCTGGAATTTGAACTCCAGACCTATGGTCCTGATTATCCTACTATGCTACTTTACATTTTGTTTTCTTATTTTCTTTTTCTTCTTTTTTTTTTGAGACAGAGTCTCACTCTGTT	C	A15661188G	NDE1	NM_017668.3(NDE1):c.-43-3548_83+622del	noncoding	Pathogenic
16	15667627	G	GT	G15667632T	NDE1	NM_017668.3(NDE1):c.237+192dup	noncoding	Benign
16	15667627	G	GTT	G15667632T	NDE1	NM_017668.3(NDE1):c.237+191_237+192dup	noncoding	Benign
16	15667633	T	TTG	T15667635G	NDE1	NM_017668.3(NDE1):c.237+195_237+196insGT	noncoding	Benign
16	15703925	G	GT	G15703934T	MYH11	NM_017668.3(NDE1):c.947+7073dup	coding	Benign
16	15703925	GTTTTT	G	T15703929G	MYH11;NDE1	NM_017668.3(NDE1):c.947+7069_947+7073del	coding	Benign/Likely_benign
16	15708747	CAGAAA	C	A15708753T	MYH11	NM_017668.3(NDE1):c.947+11893_947+11897del	noncoding	Benign
16	15715099	A	AG	T15715104G	MYH11	NM_017668.3(NDE1):c.948-9088dup	noncoding	Benign
16	15719727	CAGGG	C	G15719731A	MYH11	NM_017668.3(NDE1):c.948-4460_948-4457del	noncoding	Benign/Likely_benign
16	15724645	AC	A	C15724647T	MYH11	NM_002474.3(MYH11):c.4116+1del	coding	Pathogenic
16	15727063	G	GA	G15727064A	MYH11	NM_002474.3(MYH11):c.3652-10_3652-9insT	noncoding	Benign/Likely_benign
16	15732695	GC	AA	G15732695A	MYH11	NM_002474.3(MYH11):c.3519_3520delinsTT:p.Glu1173_Gln1174delinsAspTer	coding	Pathogenic
16	15735176	CA	C	A15735192G	MYH11	NM_002474.3(MYH11):c.3506+189del	noncoding	Benign
16	15737617	CGCACT	C	C15737621A	MYH11	NM_002474.3(MYH11):c.3122-2_3124del	coding	Pathogenic
16	15739747	CT	C	T15739761G	MYH11	NM_002474.3(MYH11):c.2997+303del	noncoding	Benign
16	15756793	C	CT	G15756816T	MYH11	NM_002474.3(MYH11):c.1576-301dup	noncoding	Benign
16	15756793	CT	C	T15756815G	MYH11	NM_002474.3(MYH11):c.1576-280del	noncoding	Benign
16	15757614	A	AT	A15757615T	MYH11	NM_002474.3(MYH11):c.1575+212_1575+213insA	noncoding	Benign
16	15760349	AATGG	A	G15760369A	MYH11	NM_002474.3(MYH11):c.1248+171CCAT[4]	noncoding	Benign
16	15771435	C	CT	A15771454T	MYH11	NM_002474.3(MYH11):c.1033+116dup	noncoding	Benign
16	15771435	C	CTT	A15771454T	MYH11	NM_002474.3(MYH11):c.1033+116_1033+117dup	noncoding	Benign
16	15771435	CTT	C	T15771452A	MYH11	NM_002474.3(MYH11):c.1033+132_1033+133del	noncoding	Benign
16	15784707	AG	A	G15784708A	MYH11	NM_001040113.2(MYH11):c.644del:p.Ser215fs	coding	Pathogenic
16	15798622	AAC	A	C15798624A	MYH11	NM_002474.3(MYH11):c.530+36_530+37del	noncoding	Benign
16	15798623	AC	A	C15798624A	MYH11	NM_002474.3(MYH11):c.530+36del	noncoding	Benign
16	15857037	TC	T	C15857039T	MYH11	NM_001040113.1(MYH11):c.-115delG	noncoding	Benign/Likely_benign
16	16154926	T	TG	A16154931G	ABCC6	NM_001171.6(ABCC6):c.3987dup:p.Ile1330fs	coding	Pathogenic
16	16159426	GC	G	C16159435A	ABCC6	NM_001171.6(ABCC6):c.3735+55del	noncoding	Benign
16	16163001	CA	C	A16163002C	ABCC6	NM_001171.6(ABCC6):c.3497del:p.Val1166fs	coding	Pathogenic
16	16173372	G	GT	A16173374T	ABCC6	NM_001171.6(ABCC6):c.2698dup:p.Thr900fs	coding	Pathogenic
16	16175776	TG	T	G16175783A	ABCC6	NM_001171.6(ABCC6):c.2666+134del	noncoding	Benign
16	16177499	AT	A	T16177500G	ABCC6	NM_001171.6(ABCC6):c.2542del:p.Met848fs	coding	Pathogenic
16	16177505	G	GC	T16177511C	ABCC6	NM_001171.6(ABCC6):c.2536dup:p.Ala846fs	coding	Pathogenic
16	16178805	TG	T	G16178807A	ABCC6	NM_001171.6(ABCC6):c.2407del:p.Gln803fs	coding	Pathogenic
16	16182422	A	AAACTCTGCACC	T16182423A	ABCC6	NM_001171.6(ABCC6):c.2236_2237insGGTGCAGAGTT:p.Ile746fs	coding	Pathogenic
16	16185118	GC	G	C16185126A	ABCC6	NM_001171.6(ABCC6):c.1868-85del	noncoding	Benign
16	16187185	G	GACCAGAC	G16187193A	ABCC6	NM_001171.6(ABCC6):c.1799_1805dup:p.Thr603fs	coding	Pathogenic
16	16188983	TG	T	G16188990A	ABCC6	NM_001171.6(ABCC6):c.1636-10del	noncoding	Benign
16	17134946	A	ATGAT	A17134951T	XYLT1	NM_022166.4(XYLT1):c.1765-215_1765-212dup	noncoding	Benign
16	17138047	T	TGAA	G17138050A	XYLT1	NM_022166.4(XYLT1):c.1764+307_1764+308insTCT	noncoding	Benign
16	17138163	G	GGTTAGAACATCCCTGAA	A17138183T	XYLT1	NM_022166.4(XYLT1):c.1764+175_1764+191dup	noncoding	Benign
16	17138226	TATTA	T	A17138231T	XYLT1	NM_022166.4(XYLT1):c.1764+125_1764+128del	noncoding	Benign
16	17258972	CG	C	G17258976T	XYLT1	NM_022166.4(XYLT1):c.913+15del	noncoding	Benign
16	18795796	A	AGT	C18795812T	ARL6IP1	NM_015161.3(ARL6IP1):c.291-229AC[8]	noncoding	Benign
16	18801326	AG	A	G18801329C	ARL6IP1	NM_015161.3(ARL6IP1):c.36+104del	coding	Benign
16	18925987	TGCC	T	C18926005T	SMG1	NM_015092.5(SMG1):c.37GGC[5]:p.Gly18del	coding	Pathogenic
16	19067270	TA	T	A19067281T	COQ7	Single_allele	noncoding	Benign
16	19067678	G	GGGC	T19067691G	COQ7	NM_016138.5(COQ7):c.15GGC[5]:p.Ala9dup	coding	Benign
16	19078134	GAT	G	A19078139T	COQ7	NM_016138.5(COQ7):c.635_636del:p.Tyr212fs	coding	Pathogenic
16	19078288	G	GT	A19078302T	COQ7	NM_016138.5(COQ7):c.*143dup	noncoding	Benign
16	19608222	T	TG	C19608224G	VPS35L	NM_020314.7(VPS35L):c.830dup:p.Cys277fs	coding	Pathogenic
16	20340991	C	CA	G20341010A	UMOD	NM_003361.4(UMOD):c.1577+82dup	noncoding	Benign
16	20349011	CCTT	C	T20349013G	UMOD	NM_003361.4(UMOD):c.287_289del:p.Glu96del	coding	Pathogenic
16	20349020	CA	C	A20349021G	UMOD	NM_003361.4(UMOD):c.280del:p.Cys94fs	coding	Pathogenic
16	20737728	T	TC	T20737730C	THUMPD1	NM_017736.5(THUMPD1):c.634dup:p.Glu212fs	coding	Pathogenic
16	20737867	A	AG	A20737869G	THUMPD1	NM_017736.5(THUMPD1):c.495dup:p.Ser166fs	coding	Pathogenic
16	20738996	CTTCT	C	T20739002C	THUMPD1	NM_017736.5(THUMPD1):c.303_306del:p.Glu102fs	coding	Pathogenic
16	21261447	T	TA	G21261465A	CRYM	NM_001376256.1(CRYM):c.796-126dup	noncoding	Benign
16	21678452	G	GTA	G21678454A	OTOA	NM_144672.4(OTOA):c.-4-58_-4-57insAT	noncoding	Benign
16	21685137	A	AT	G21685139T	OTOA	NM_144672.4(OTOA):c.268-92dup	noncoding	Benign
16	21685295	GA	G	A21685297G	OTOA	NM_144672.4(OTOA):c.335del:p.Lys112fs	coding	Pathogenic
16	21687667	CT	C	T21687685G	OTOA	NM_144672.4(OTOA):c.635+37del	noncoding	Benign
16	21709999	TC	T	C21710004G	OTOA	NM_144672.4(OTOA):c.1221del:p.Glu408fs	coding	Pathogenic
16	21715439	G	GT	G21715443T	OTOA	NM_144672.4(OTOA):c.1488+290dup	noncoding	Benign
16	21716805	CG	C	G21716808T	OTOA	NM_144672.4(OTOA):c.1489-99del	noncoding	Benign
16	21752119	TCATC	T	T21752166G	OTOA	NM_144672.4(OTOA):c.2918+43CATC[11]	noncoding	Benign
16	21752119	T	TCATC	G21752170T	OTOA	NM_144672.4(OTOA):c.2918+43CATC[13]	noncoding	Benign
16	21752243	GC	G	C21752244T	OTOA	NM_144672.4(OTOA):c.2919-125del	noncoding	Benign
16	21752303	GTT	G	T21752305G	OTOA	NM_144672.4(OTOA):c.2919-64_2919-63del	noncoding	Benign
16	21980490	G	GA	T21980501A	UQCRC2	NM_003366.4(UQCRC2):c.1125-47dup	noncoding	Benign
16	21982963	C	CA	G21982984A	UQCRC2	NM_003366.4(UQCRC2):c.1279-105dup	noncoding	Benign
16	23192078	G	GA	G23192080A	SCNN1G	NM_001039.4(SCNN1G):c.619-273dup	noncoding	Benign
16	23193967	CAG	C	A23193972T	SCNN1G	NM_001039.4(SCNN1G):c.810-203AG[2]	noncoding	Benign
16	23348709	G	GC	A23348714C	SCNN1B	NM_000336.3(SCNN1B):c.114dup:p.Lys39fs	coding	Pathogenic
16	23371661	CT	C	T23371662G	SCNN1B	NM_000336.3(SCNN1B):c.1045-114del	noncoding	Benign
16	23377581	TCCCTCCC	T	C23377582T	SCNN1B	NM_000336.3(SCNN1B):c.1404+196_1404+202del	noncoding	Benign
16	23380611	TGGCCGAGCTGGTGGAGGCCCACACCAACTTTG	T	G23380613C	SCNN1B	NM_000336.3(SCNN1B):c.1735_1766del:p.Ala579Leufs*4	coding	Pathogenic
16	23380661	G	GC	G23380668C	SCNN1B	NM_000336.3(SCNN1B):c.1789dup:p.Arg597fs	coding	Pathogenic
16	23380726	G	GC	A23380733C	SCNN1B	NM_000336.3(SCNN1B):c.1854dup:p.Asn619fs	coding	Pathogenic
16	23392369	TG	T	G23392373A	COG7	NM_153603.4(COG7):c.2146+10del	noncoding	Benign
16	23433819	G	GAA	C23433833A	COG7	NM_153603.4(COG7):c.688-165_688-164dup	noncoding	Benign
16	23433819	G	GA	C23433833A	COG7	NM_153603.4(COG7):c.688-165dup	noncoding	Benign
16	23442333	CAA	C	A23442352T	COG7	NM_153603.4(COG7):c.604+142_604+143del	noncoding	Benign
16	23442333	CA	C	A23442353T	COG7	NM_153603.4(COG7):c.604+143del	noncoding	Benign
16	23524646	C	CT	G23524665T	EARS2	NM_001083614.2(EARS2):c.1489-210dup	noncoding	Benign
16	23544580	CAG	C	A23544581G	EARS2	NM_001083614.2(EARS2):c.417_418del:p.Cys140fs	coding	Pathogenic/Likely_pathogenic
16	23603479	ATATATTTCCATCT	A	A23603481T	PALB2	NM_024675.4(PALB2):c.3528_3540del:p.Lys1176fs	coding	Pathogenic
16	23603515	AGTCT	A	C23603518A	PALB2	NM_024675.4(PALB2):c.3501_3504del:p.Asp1168fs	coding	Pathogenic
16	23603517	TCTGTA	T	T23603519C	PALB2	NM_024675.4(PALB2):c.3498_3502del:p.Thr1167fs	coding	Pathogenic
16	23603518	C	CTGTACCCGACCATTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGCCA	A23603535T	PALB2	NM_024675.4(PALB2):c.3501_3502insTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGGTCGGGTACA:p.Asp1168delinsTrpProGlyAlaValAlaHisAlaCysSerProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
16	23603525	C	CG	A23603527G	PALB2	NM_024675.4(PALB2):c.3494dup:p.Thr1167fs	coding	Pathogenic
16	23603544	CA	C	A23603546T	PALB2	NM_024675.4(PALB2):c.3475del:p.Trp1159fs	coding	Pathogenic
16	23603554	CAG	C	G23603558C	PALB2	NM_024675.4(PALB2):c.3464_3465del:p.Val1154_Ser1155insTer	coding	Pathogenic
16	23603560	CAGGTGGG	C	T23603564A	PALB2	NM_024675.4(PALB2):c.3453_3459del:p.Pro1152fs	coding	Pathogenic
16	23603721	TA	T	A23603735G	PALB2	NM_024675.4(PALB2):c.3351-53del	noncoding	Benign
16	23607908	G	GCTGAGCGT	A23607914C	PALB2	NM_024675.4(PALB2):c.3305_3306insACGCTCAG:p.Ser1102fs	coding	Pathogenic
16	23607928	T	TCATTAAC	A23607929C	PALB2	NM_024675.4(PALB2):c.3285_3286insGTTAATG:p.Asn1096fs	coding	Pathogenic
16	23607928	T	TTAAC	A23607929T	PALB2	NM_024675.4(PALB2):c.3285_3286insGTTA:p.Asn1096fs	coding	Pathogenic
16	23607955	TTCGCAACGAC	T	G23607958A	PALB2	NM_024675.4(PALB2):c.3249_3258del:p.Ser1084fs	coding	Pathogenic
16	23607962	CGACT	C	G23607963C	PALB2	NM_024675.4(PALB2):c.3248_3251del:p.Glu1083fs	coding	Pathogenic
16	23607965	C	CT	C23607967T	PALB2	NM_024675.4(PALB2):c.3248dup:p.Ser1084fs	coding	Pathogenic
16	23608009	GC	G	C23608013T	PALB2	NC_000016.9:g.23619331del	coding	Pathogenic
16	23614001	TACCATTTCAGAATAGGCTTTGTGACAGACTGAAGCTTGGTAAGAATCATCAATGTGCATCTTTTTCAGGAGTTGACCAGTTTTTAAATTCC	T	A23614002T	PALB2	NM_024675.4(PALB2):c.3114-1_3201+2del	noncoding	Pathogenic
16	23614029	AC	A	C23614030T	PALB2	NM_024675.4(PALB2):c.3175del:p.Val1059fs	coding	Pathogenic
16	23614101	CAAAAAT	C	A23614105T	PALB2	NM_024675.4(PALB2):c.3114-16_3114-11del	noncoding	Pathogenic
16	23621362	CAAATA	C	A23621364C	PALB2	NM_024675.4(PALB2):c.3108_3112del:p.Ile1037fs	coding	Pathogenic
16	23621391	A	ATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNCAGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCAGGCGGCGCTCGCCGGCACCCAAGCAGAGC	C23621392T	PALB2	NM_024675.4(PALB2):c.3083_3084insGCTCTGCTTGGGTGCCGGCGAGCGCCGCCTGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCCGCCTGNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA:p.Gly1028_Thr1029insLeuCysLeuGlyAlaGlyGluArgArgLeuGlyGlySerGlyTrpArgSerGlyArgAlaProArgGlyProArgAlaArgSerSerArgLeuXaaXaaXaaXaaXaaLysLysLysLysLysLysLysAsn	coding	Pathogenic
16	23621393	CA	C	A23621395G	PALB2	NM_024675.4(PALB2):c.3081del:p.Gly1028fs	coding	Pathogenic
16	23621402	CT	C	T23621404C	PALB2	NM_024675.4(PALB2):c.3072del:p.Ala1025fs	coding	Pathogenic
16	23621422	TC	T	C23621423A	PALB2	NM_024675.4(PALB2):c.3052del:p.Glu1018fs	coding	Pathogenic
16	23621448	A	AT	G23621449T	PALB2	NM_024675.4(PALB2):c.3026_3027insA:p.Pro1009_Glu1010insTer	coding	Pathogenic
16	23621457	C	CA	T23621463A	PALB2	NM_024675.4(PALB2):c.3017dup:p.Leu1006fs	coding	Pathogenic
16	23621471	CT	C	T23621474G	PALB2	NM_024675.4(PALB2):c.3003del:p.Glu1002fs	coding	Pathogenic
16	23622785	CT	C	T23622786G	PALB2	NM_024675.4(PALB2):c.2996+183del	noncoding	Benign
16	23622989	CAT	C	A23622990G	PALB2	NM_024675.4(PALB2):c.2974_2975del:p.Met992fs	coding	Pathogenic/Likely_pathogenic
16	23622998	TA	T	A23622999C	PALB2	NM_024675.4(PALB2):c.2966del:p.Val989fs	coding	Pathogenic
16	23622998	T	TA	C23623000A	PALB2	NM_024675.4(PALB2):c.2966dup:p.Glu990fs	coding	Pathogenic
16	23623051	GGC	G	G23623052C	PALB2	NM_024675.4(PALB2):c.2912_2913del:p.Gly971fs	coding	Pathogenic
16	23623087	G	GTA	C23623090T	PALB2	NM_024675.4(PALB2):c.2876_2877dup:p.Leu960fs	coding	Pathogenic
16	23623088	T	TA	C23623090A	PALB2	NM_024675.4(PALB2):c.2876dup:p.Leu960fs	coding	Pathogenic
16	23623200	CT	C	T23623221G	PALB2	NM_024675.4(PALB2):c.2835-71del	noncoding	Benign
16	23623200	CTT	C	T23623220G	PALB2	NM_024675.4(PALB2):c.2835-72_2835-71del	noncoding	Benign
16	23624020	GATTTCCAA	G	A23624027C	PALB2	NM_024675.4(PALB2):c.2815_2822del:p.Leu939fs	coding	Pathogenic
16	23624041	TAC	T	A23624048G	PALB2	NM_024675.4(PALB2):c.2800_2801del:p.Val934fs	coding	Pathogenic
16	23624045	CA	C	A23624046C	PALB2	NM_024675.4(PALB2):c.2797del:p.Cys933fs	coding	Pathogenic
16	23624054	T	TTA	C23624059T	PALB2	NM_024675.4(PALB2):c.2787_2788dup:p.Asn930fs	coding	Pathogenic
16	23624071	TG	T	G23624073A	PALB2	NM_024675.4(PALB2):c.2771del:p.Pro924fs	coding	Pathogenic
16	23626255	TA	T	A23626258G	PALB2	NM_024675.4(PALB2):c.2728del:p.Tyr910fs	coding	Pathogenic
16	23626271	GC	G	C23626273A	PALB2	NM_024675.4(PALB2):c.2712del:p.Trp904fs	coding	Pathogenic
16	23626297	GA	G	A23626300C	PALB2	NM_024675.4(PALB2):c.2686del:p.Ser896fs	coding	Pathogenic
16	23626340	A	AACCGGCTCTTTCCC	A23626356C	PALB2	NM_024675.4(PALB2):c.2630_2643dup:p.Cys882fs	coding	Pathogenic
16	23626348	CTT	C	T23626350C	PALB2	NM_024675.4(PALB2):c.2634_2635del:p.Arg879fs	coding	Pathogenic/Likely_pathogenic
16	23629204	CT	C	T23629207A	PALB2	NM_024675.4(PALB2):c.2585del:p.Lys862fs	coding	Pathogenic/Likely_pathogenic
16	23629207	TA	T	A23629209C	PALB2	NM_024675.4(PALB2):c.2582del:p.Glu860_Leu861insTer	coding	Pathogenic
16	23629214	GA	G	A23629217C	PALB2	NM_024675.4(PALB2):c.2575del:p.Ser859fs	coding	Pathogenic
16	23629226	AG	A	G23629228T	PALB2	NM_024675.4(PALB2):c.2563del:p.Leu855fs	coding	Pathogenic
16	23629240	TA	T	A23629241T	PALB2	NM_024675.4(PALB2):c.2549del:p.Ile850fs	coding	Pathogenic
16	23629240	T	TA	T23629242A	PALB2	NM_024675.4(PALB2):c.2549dup:p.Asn851fs	coding	Pathogenic
16	23629241	ATGCTATCAGAAGCAGGAAGCTC	A	A23629246G	PALB2	NM_024675.4(PALB2):c.2527_2548del:p.Ala842_Glu843insTer	coding	Pathogenic
16	23629653	TGTTTA	T	G23629654T	PALB2	NM_024675.4(PALB2):c.2496_2500del:p.His832fs	coding	Pathogenic
16	23629771	GC	AA	G23629771A	PALB2	NM_024675.4(PALB2):c.2382_2383delinsTT:p.Arg794_Gln795delinsSerTer	coding	Pathogenic
16	23629794	G	GT	A23629796T	PALB2	NM_024675.4(PALB2):c.2359dup:p.Thr787fs	coding	Pathogenic
16	23629799	TGG	T	G23629800T	PALB2	NM_024675.4(PALB2):c.2353_2354del:p.Pro785fs	coding	Pathogenic
16	23629843	TG	T	G23629845C	PALB2	NM_024675.4(PALB2):c.2310del:p.Ser771fs	coding	Pathogenic
16	23629898	TC	T	C23629900A	PALB2	NM_024675.4(PALB2):c.2255del:p.Gly752fs	coding	Pathogenic
16	23629901	AG	A	G23629902C	PALB2	NM_024675.4(PALB2):c.2252del:p.Ala751fs	coding	Pathogenic
16	23629908	TCTGTA	T	C23629909G	PALB2	NM_024675.4(PALB2):c.2241_2245del:p.Thr748fs	coding	Pathogenic
16	23629931	GC	G	C23629933T	PALB2	NM_024675.4(PALB2):c.2222del:p.Gly741fs	coding	Pathogenic
16	23629948	C	CT	G23629950T	PALB2	NM_024675.4(PALB2):c.2205dup:p.Ala736fs	coding	Pathogenic
16	23629950	GGAGTA	G	A23629952T	PALB2	NM_024675.4(PALB2):c.2199_2203del:p.Thr734fs	coding	Pathogenic
16	23629970	GA	G	A23629973G	PALB2	NM_024675.4(PALB2):c.2183del:p.Phe728fs	coding	Pathogenic
16	23629979	T	TGA	A23629982G	PALB2	NM_024675.4(PALB2):c.2173_2174dup:p.Pro726fs	coding	Pathogenic
16	23629999	GC	G	C23630001T	PALB2	NM_024675.4(PALB2):c.2154del:p.Arg718fs	coding	Pathogenic
16	23630041	AAAGT	A	G23630044T	PALB2	NM_024675.4(PALB2):c.2109_2112del:p.Leu703fs	coding	Pathogenic
16	23630048	T	TA	T23630050A	PALB2	NM_024675.4(PALB2):c.2105dup:p.Leu703fs	coding	Pathogenic
16	23630086	GC	AA	G23630086A	PALB2	NM_024675.4(PALB2):c.2067_2068delinsTT:p.Gln690Ter	coding	Pathogenic
16	23630117	TG	T	G23630119T	PALB2	NM_024675.4(PALB2):c.2036del:p.Pro679fs	coding	Pathogenic
16	23630127	A	AT	A23630129T	PALB2	NM_024675.4(PALB2):c.2026dup:p.Ile676fs	coding	Pathogenic
16	23630132	GTC	G	T23630133C	PALB2	NM_024675.4(PALB2):c.2020_2021del:p.Asp674fs	coding	Pathogenic
16	23630163	A	AGAAC	T23630164G	PALB2	NM_024675.4(PALB2):c.1990_1991insGTTC:p.Met664fs	coding	Pathogenic
16	23630176	TCA	T	C23630177G	PALB2	NM_024675.4(PALB2):c.1976_1977del:p.Leu659fs	coding	Pathogenic
16	23630195	A	ACAGCTTCCCTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	A23630210T	PALB2	NM_024675.4(PALB2):c.1958_1959insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAAGCTG:p.Cys653fs	coding	Pathogenic
16	23630242	AG	A	G23630245C	PALB2	NM_024675.4(PALB2):c.1911del:p.Phe638fs	coding	Pathogenic
16	23630290	GA	G	A23630291G	PALB2	NM_024675.4(PALB2):c.1863del:p.Lys623fs	coding	Pathogenic
16	23630315	CT	C	T23630316G	PALB2	NM_024675.4(PALB2):c.1838del:p.Gln613fs	coding	Pathogenic/Likely_pathogenic
16	23630317	G	GA	G23630321A	PALB2	NM_024675.4(PALB2):c.1836dup:p.Gln613fs	coding	Pathogenic
16	23630344	G	GTAGTTGCT	T23630354A	PALB2	NM_024675.4(PALB2):c.1802_1809dup:p.Leu604fs	coding	Pathogenic
16	23630346	AG	A	G23630347T	PALB2	NM_024675.4(PALB2):c.1807del:p.Leu603fs	coding	Pathogenic
16	23630394	GC	G	C23630395A	PALB2	NM_024675.4(PALB2):c.1759del:p.Ala587fs	coding	Pathogenic
16	23630395	CA	C	A23630396T	PALB2	NM_024675.4(PALB2):c.1758del:p.Asp586fs	coding	Pathogenic
16	23630417	A	AGC	A23630420G	PALB2	NM_024675.4(PALB2):c.1735_1736dup:p.Tyr580fs	coding	Pathogenic
16	23630428	T	TC	A23630431C	PALB2	NM_024675.3(PALB2):c.1724dup:p.Ser576Glufs	coding	Pathogenic/Likely_pathogenic
16	23630451	TG	T	G23630452A	PALB2	NM_024675.4(PALB2):c.1702del:p.Gln568fs	coding	Pathogenic
16	23634874	TA	T	A23634877T	PALB2	NM_024675.4(PALB2):c.1671del:p.Phe557fs	coding	Pathogenic
16	23634876	AATAATTTTTCGTGCTGATATTTGTGTGAG	A	A23634877G	PALB2	NM_024675.4(PALB2):c.1641_1669del:p.Ser548fs	coding	Pathogenic
16	23634879	AATTTTTC	A	A23634880G	PALB2	NM_024675.4(PALB2):c.1660_1666del:p.Glu554fs	coding	Pathogenic
16	23634886	CGT	GG	C23634886G	PALB2	NM_024675.4(PALB2):c.1658_1660delinsCC:p.His553fs	coding	Pathogenic
16	23634892	GAT	G	A23634895T	PALB2	NM_024675.4(PALB2):c.1652_1653del:p.Tyr551fs	coding	Pathogenic
16	23634901	GT	G	T23634902G	PALB2	NM_024675.4(PALB2):c.1644del:p.His549fs	coding	Pathogenic
16	23634948	GT	G	T23634950G	PALB2	NM_024675.4(PALB2):c.1597del:p.Thr533fs	coding	Pathogenic
16	23634970	GA	G	A23634971T	PALB2	NM_024675.4(PALB2):c.1575del:p.His526fs	coding	Pathogenic
16	23634997	TTC	T	C23634999T	PALB2	NM_024675.4(PALB2):c.1547_1548del:p.Arg516fs	coding	Pathogenic
16	23635077	GGA	G	A23635081C	PALB2	NM_024675.4(PALB2):c.1467_1468del:p.Pro490fs	coding	Pathogenic/Likely_pathogenic
16	23635087	CTTTAG	C	T23635090A	PALB2	NM_024675.4(PALB2):c.1454_1458del:p.Thr485fs	coding	Pathogenic
16	23635088	TTTAG	T	G23635092A	PALB2	NM_024675.4(PALB2):c.1454_1457del:p.Thr485fs	coding	Pathogenic
16	23635118	T	TC	T23635120C	PALB2	NM_024675.4(PALB2):c.1427dup:p.Thr477fs	coding	Pathogenic
16	23635119	CT	C	T23635121G	PALB2	NM_024675.4(PALB2):c.1426del:p.Arg476fs	coding	Pathogenic
16	23635137	GT	G	T23635138G	PALB2	NM_024675.4(PALB2):c.1408del:p.Thr470fs	coding	Pathogenic
16	23635145	GC	G	C23635147A	PALB2	NM_024675.4(PALB2):c.1400del:p.Gly467fs	coding	Pathogenic
16	23635155	C	CTAATT	C23635162A	PALB2	NM_024675.4(PALB2):c.1386_1390dup:p.Arg464fs	coding	Pathogenic
16	23635167	TG	CA	T23635167C	PALB2	NM_024675.4(PALB2):c.1378_1379inv:p.Gln460Ter	coding	Pathogenic
16	23635176	TC	T	C23635178T	PALB2	NM_024675.4(PALB2):c.1369del:p.Glu457fs	coding	Pathogenic
16	23635186	A	AAC	A23635188C	PALB2	NM_024675.4(PALB2):c.1359_1360insGT:p.Ser454fs	coding	Pathogenic
16	23635203	C	CTTGCATCCTTATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNTTGAACTTGGTTGTCCTGTGCATGTGCCAGACATCCTAATTTCACTTTGGTCAGTTTCCTCATTGGAAAGGTTTAAATTTTTA	A23635220T	PALB2	NM_024675.4(PALB2):c.1342_1343insTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAANNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAGGATGCAA:p.Ser448delinsIleLysIleTer	coding	Pathogenic
16	23635225	T	TA	C23635229A	PALB2	NM_024675.4(PALB2):c.1320dup:p.Lys441Ter	coding	Pathogenic
16	23635231	C	CT	C23635238T	PALB2	NM_024675.4(PALB2):c.1314dup:p.Gly439fs	coding	Pathogenic
16	23635256	C	CT	G23635258T	PALB2	NM_024675.4(PALB2):c.1289dup:p.Ser431fs	coding	Pathogenic
16	23635282	TC	T	C23635284T	PALB2	NM_024675.4(PALB2):c.1263del:p.Lys422_Val423insTer	coding	Pathogenic
16	23635311	GT	G	T23635313C	PALB2	NM_024675.4(PALB2):c.1234del:p.Thr412fs	coding	Pathogenic
16	23635314	CTAACA	C	C23635318T	PALB2	NM_024675.4(PALB2):c.1227_1231del:p.Tyr409_Arg411delinsTer	coding	Pathogenic/Likely_pathogenic
16	23635321	A	AAT	T23635326A	PALB2	NM_024675.4(PALB2):c.1223_1224dup:p.Tyr409fs	coding	Pathogenic
16	23635351	GCA	G	A23635353T	PALB2	NM_024675.4(PALB2):c.1193_1194del:p.Val398fs	coding	Pathogenic
16	23635354	CT	C	T23635355G	PALB2	NM_024675.4(PALB2):c.1191del:p.Val398fs	coding	Pathogenic
16	23635356	GTGCAAGAATGTTTTTC	G	A23635361G	PALB2	NM_024675.4(PALB2):c.1174_1189del:p.Glu392fs	coding	Pathogenic
16	23635358	G	GC	A23635360C	PALB2	NM_024675.4(PALB2):c.1187dup:p.Cys396fs	coding	Pathogenic
16	23635366	G	GT	C23635372T	PALB2	NM_024675.4(PALB2):c.1179dup:p.His394fs	coding	Pathogenic
16	23635375	CA	C	A23635376G	PALB2	NM_024675.4(PALB2):c.1170del:p.Ala391fs	coding	Pathogenic
16	23635402	TAA	T	A23635403G	PALB2	NM_024675.4(PALB2):c.1142_1143del:p.Leu381fs	coding	Pathogenic
16	23635428	TC	T	C23635429A	PALB2	NM_024675.4(PALB2):c.1117del:p.Glu373fs	coding	Pathogenic
16	23635429	CACTTTCCTGAA	C	A23635430G	PALB2	NM_024675.4(PALB2):c.1106_1116del:p.Leu369fs	coding	Pathogenic
16	23635461	AGAGTGTC	A	G23635462A	PALB2	NM_024675.4(PALB2):c.1078_1084del:p.Asp360fs	coding	Pathogenic
16	23635470	CTGGGAGATTTTAAAGAT	C	G23635472T	PALB2	NM_024675.4(PALB2):c.1059_1075del:p.Lys353_Ser354insTer	coding	Pathogenic
16	23635476	GATTTT	G	T23635478A	PALB2	NM_024675.4(PALB2):c.1065_1069del:p.Leu355fs	coding	Pathogenic
16	23635478	T	TTA	T23635480A	PALB2	NM_024675.4(PALB2):c.1067_1068insTA:p.Lys356fs	coding	Pathogenic
16	23635480	TTAAAGATTTC	T	A23635482C	PALB2	NM_024675.4(PALB2):c.1056_1065del:p.Lys353fs	coding	Pathogenic
16	23635484	AG	A	G23635485A	PALB2	NM_024675.4(PALB2):c.1061del:p.Ser354fs	coding	Pathogenic
16	23635494	G	GA	T23635495A	PALB2	NM_024675.4(PALB2):c.1051_1052insT:p.Thr351fs	coding	Pathogenic
16	23635541	A	AT	G23635544T	PALB2	NM_024675.4(PALB2):c.1004dup:p.Asn335fs	coding	Pathogenic
16	23635558	T	TTA	G23635561T	PALB2	NM_024675.4(PALB2):c.986_987dup:p.Asn330Ter	coding	Pathogenic
16	23635593	CT	C	T23635595G	PALB2	NM_024675.4(PALB2):c.952del:p.Ser318fs	coding	Pathogenic
16	23635642	TA	T	A23635643T	PALB2	NM_024675.4(PALB2):c.903del:p.Asp301fs	coding	Pathogenic
16	23635643	ATC	A	C23635645G	PALB2	NM_024675.4(PALB2):c.901_902del:p.Thr300_Asp301insTer	coding	Pathogenic
16	23635654	CAG	C	A23635655T	PALB2	NM_024675.4(PALB2):c.890_891del:p.Thr297fs	coding	Pathogenic
16	23635658	CA	C	A23635659T	PALB2	NM_024675.4(PALB2):c.887del:p.Met296fs	coding	Pathogenic
16	23635666	TG	T	G23635667C	PALB2	NM_024675.4(PALB2):c.879del:p.Lys295_Met296insTer	coding	Pathogenic
16	23635696	TA	T	A23635699T	PALB2	NM_024675.4(PALB2):c.849del:p.Phe283fs	coding	Pathogenic
16	23635706	G	GT	A23635713T	PALB2	NM_024675.4(PALB2):c.839dup:p.Asn280fs	coding	Pathogenic
16	23635720	GA	G	A23635721G	PALB2	NM_024675.4(PALB2):c.825del:p.His276fs	coding	Pathogenic
16	23635720	G	GAGTAGTAAGT	T23635731A	PALB2	NM_024675.4(PALB2):c.816_825dup:p.His276fs	coding	Pathogenic
16	23635767	T	TGG	A23635769G	PALB2	NM_024675.4(PALB2):c.778_779insCC:p.Gln260fs	coding	Pathogenic
16	23635784	TG	T	G23635785A	PALB2	NM_024675.4(PALB2):c.761del:p.Leu253_Ser254insTer	coding	Pathogenic
16	23635787	T	TC	A23635788C	PALB2	NM_024675.4(PALB2):c.758_759insG:p.Ser254fs	coding	Pathogenic
16	23635791	GTC	G	C23635793G	PALB2	NM_024675.4(PALB2):c.753_754del:p.Gln251fs	coding	Pathogenic
16	23635811	CG	C	G23635812C	PALB2	NM_024675.4(PALB2):c.734del:p.Ala245fs	coding	Pathogenic
16	23635939	TA	T	A23635941G	PALB2	NM_024675.4(PALB2):c.606del:p.Lys203fs	coding	Pathogenic
16	23635950	A	AT	G23635951T	PALB2	NM_024675.4(PALB2):c.595_596insA:p.Leu199fs	coding	Pathogenic
16	23635950	AG	A	G23635952T	PALB2	NM_024675.4(PALB2):c.595del:p.Leu199fs	coding	Pathogenic
16	23635998	CT	C	T23635999G	PALB2	NM_024675.4(PALB2):c.547del:p.Ser183fs	coding	Pathogenic
16	23636023	TTTTCCC	CTGTCCTTT	T23636023C	PALB2	NM_024675.4(PALB2):c.517_523delinsAAAGGACAG:p.Gly173fs	coding	Pathogenic
16	23636026	TC	T	C23636029A	PALB2	NM_024675.4(PALB2):c.519del:p.Arg175fs	coding	Pathogenic
16	23636093	C	CGA	T23636094G	PALB2	NM_024675.4(PALB2):c.452_453insTC:p.Gln151fs	coding	Pathogenic
16	23636095	GCTGCTTCTTTCTT	G	C23636102G	PALB2	NM_024675.4(PALB2):c.438_450del:p.Arg146fs	coding	Pathogenic
16	23636100	TTC	T	C23636102T	PALB2	NM_024675.4(PALB2):c.444_445del:p.Lys149fs	coding	Pathogenic
16	23636101	TC	T	C23636102T	PALB2	NM_024675.4(PALB2):c.444del:p.Lys149fs	coding	Pathogenic/Likely_pathogenic
16	23636117	CA	C	A23636118G	PALB2	NM_024675.4(PALB2):c.428del:p.Leu143fs	coding	Pathogenic
16	23636120	CT	C	T23636122C	PALB2	NM_024675.4(PALB2):c.425del:p.Lys142fs	coding	Pathogenic
16	23636125	GC	G	C23636126T	PALB2	NM_024675.4(PALB2):c.420del:p.Lys140fs	coding	Pathogenic
16	23636155	TG	T	G23636156T	PALB2	NM_024675.4(PALB2):c.390del:p.His130fs	coding	Pathogenic
16	23636219	AG	A	G23636222T	PALB2	NM_024675.4(PALB2):c.326del:p.Pro109fs	coding	Pathogenic
16	23636239	CA	C	A23636241C	PALB2	NM_024675.4(PALB2):c.306del:p.Pro104fs	coding	Pathogenic
16	23636281	CA	C	A23636283G	PALB2	NM_024675.4(PALB2):c.264del:p.Asp89fs	coding	Pathogenic
16	23636296	TG	T	G23636297T	PALB2	NM_024675.4(PALB2):c.249del:p.His83fs	coding	Pathogenic
16	23636310	TA	T	A23636313C	PALB2	NM_024675.4(PALB2):c.235del:p.Tyr79fs	coding	Pathogenic
16	23636343	G	GA	T23636351A	PALB2	NM_024675.4(PALB2):c.212-16dup	noncoding	Benign/Likely_benign
16	23636352	G	GTA	A23636359T	PALB2	NM_024675.4(PALB2):c.212-24TA[4]	noncoding	Benign/Likely_benign
16	23637867	GGT	G	T23637869A	PALB2	NM_024675.4(PALB2):c.192_193del:p.Pro65fs	coding	Pathogenic
16	23637875	AT	A	T23637876C	PALB2	NM_024675.4(PALB2):c.185del:p.Asp62fs	coding	Pathogenic
16	23637887	C	CA	C23637891A	PALB2	NM_024675.4(PALB2):c.173dup:p.Leu58fs	coding	Pathogenic
16	23637912	TTCTTAATAGAATG	T	T23637913C	PALB2	NM_024675.4(PALB2):c.136_148del:p.His46fs	coding	Pathogenic
16	23638074	AG	A	G23638076C	PALB2	NM_024675.4(PALB2):c.103del:p.Leu35fs	coding	Pathogenic
16	23638094	GT	G	T23638095A	PALB2	NM_024675.4(PALB2):c.83del:p.Tyr28fs	coding	Pathogenic
16	23638106	C	CAAGAATGCTAATTTCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T23638122G	PALB2	NM_024675.4(PALB2):c.71_72insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT:p.Leu24delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer	coding	Pathogenic
16	23638121	C	CAAGAATGCTAATTTCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T23638122A	PALB2	NM_024675.4(PALB2):c.56_57insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT:p.Glu19delinsAspPhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer	coding	Pathogenic
16	23641132	AGG	A	G23641135C	PALB2	NM_024675.4(PALB2):c.24_25del:p.Leu9fs	coding	Pathogenic
16	27446062	T	TA	C27446064A	IL21R	NM_181078.3(IL21R):c.842dup:p.Tyr281Ter	coding	Pathogenic
16	27550189	TG	T	G27550192C	KATNIP	NM_015202.5(KATNIP):c.7+15del	noncoding	Benign
16	27740669	AC	A	C27740670G	KATNIP	NM_015202.5(KATNIP):c.2373del:p.Asp791fs	coding	Pathogenic
16	27773139	CT	C	T27773140A	KATNIP	NM_015202.5(KATNIP):c.4240del:p.Tyr1414fs	coding	Pathogenic
16	28477858	AG	A	G28477860A	CLN3	NM_001042432.2(CLN3):c.1075del:p.Leu359fs	coding	Pathogenic/Likely_pathogenic
16	28481986	C	CA	T28482004A	CLN3	NM_001042432.2(CLN3):c.1056+102dup	noncoding	Benign
16	28482112	AG	A	G28482115C	CLN3	NM_001042432.2(CLN3):c.1048del:p.Leu350fs	coding	Pathogenic
16	28482167	CAA	C	A28482169G	CLN3	NM_001042432.2(CLN3):c.992_993del:p.Phe331fs	coding	Pathogenic
16	28482172	ACGCC	A	C28482173A	CLN3	NM_001042432.2(CLN3):c.985_988del:p.Gly329fs	coding	Pathogenic
16	28482334	A	AT	G28482337T	CLN3	NM_001042432.2(CLN3):c.954dup:p.Tyr319fs	coding	Pathogenic
16	28484004	AC	A	C28484006T	CLN3	NM_001042432.2(CLN3):c.790+1del	noncoding	Pathogenic/Likely_pathogenic
16	28486384	GC	G	C28486385A	CLN3	NM_001042432.2(CLN3):c.639del:p.Leu214fs	coding	Pathogenic
16	28486431	GA	G	A28486432C	CLN3	NM_001042432.2(CLN3):c.592del:p.Ser198fs	coding	Pathogenic
16	28486464	CCT	C	C28486465G	CLN3	NM_001042432.2(CLN3):c.558_559del:p.Gly187fs	coding	Pathogenic/Likely_pathogenic
16	28486652	TG	T	G28486658A	CLN3	NM_001042432.2(CLN3):c.461-3del	noncoding	Benign
16	28487523	AC	A	C28487524T	CLN3	NM_001042432.2(CLN3):c.392del:p.Ser131fs	coding	Pathogenic
16	28487533	A	AC	G28487537C	CLN3	NM_001042432.2(CLN3):c.382dup:p.Val128fs	coding	Pathogenic
16	28487665	T	TA	G28487667A	CLN3	NM_001042432.2(CLN3):c.370dup:p.Tyr124fs	coding	Pathogenic/Likely_pathogenic
16	28489370	TG	T	G28489371C	CLN3	NM_001042432.2(CLN3):c.141del:p.Leu46_Cys47insTer	coding	Pathogenic/Likely_pathogenic
16	28491501	TC	T	C28491503A	CLN3	NM_001042432.2(CLN3):c.105del:p.His34_Trp35insTer	coding	Pathogenic
16	28491729	AG	A	G28491730C	CLN3	NM_001042432.2(CLN3):c.30del:p.Ser12fs	coding	Pathogenic
16	28492313	GGCTTCA	G	T28492317C	CLN3	NM_001042432.1(CLN3):c.-376_-371delTGAAGC	noncoding	Benign/Likely_benign
16	28492376	C	CT	G28492397T	CLN3	Single_allele	noncoding	Benign
16	28492376	CT	C	T28492396G	CLN3	Single_allele	noncoding	Benign
16	28878376	C	CT	C28878381T	ATP2A1	Single_allele	noncoding	Benign
16	28878386	CA	C	A28878387C	ATP2A1	Single_allele	noncoding	Benign
16	28879540	AC	A	C28879542T	ATP2A1	NM_004320.6(ATP2A1):c.178del:p.Leu60fs	coding	Pathogenic
16	28882403	ACT	A	C28882406G	ATP2A1	NM_004320.6(ATP2A1):c.325-45_325-44del	noncoding	Benign
16	28882751	TC	T	C28882758T	ATP2A1	NM_004320.6(ATP2A1):c.463+169del	noncoding	Benign
16	28886992	C	CA	G28887012A	ATP2A1	NM_004320.6(ATP2A1):c.545-178dup	noncoding	Benign
16	28887231	AC	A	C28887236G	ATP2A1	NM_004320.6(ATP2A1):c.592del:p.Arg198fs	coding	Pathogenic
16	28887679	C	CT	A28887683T	ATP2A1	NM_004320.6(ATP2A1):c.888dup:p.Lys297Ter	coding	Pathogenic
16	28888757	TTCCCTCACACCC	T	A28888764C	ATP2A1	NM_004320.6(ATP2A1):c.929-23_929-12del	noncoding	Benign
16	28898356	G	GAC	C28898361A	ATP2A1	NM_004320.6(ATP2A1):c.1672_1673dup:p.Leu559fs	coding	Pathogenic
16	28900308	CA	C	A28900319G	ATP2A1	NM_004320.6(ATP2A1):c.1765-262del	noncoding	Benign
16	28900441	C	CTTG	G28900442T	ATP2A1	NM_004320.6(ATP2A1):c.1765-140_1765-139insTTG	noncoding	Benign
16	28900871	CAA	C	A28900872G	ATP2A1	NM_004320.6(ATP2A1):c.2056_2057del:p.Lys686fs	coding	Pathogenic
16	28902008	AG	A	G28902011C	ATP2A1	NM_004320.6(ATP2A1):c.2249del:p.Gly750fs	coding	Pathogenic
16	28902781	CACTT	C	A28902782C	ATP2A1	NM_004320.6(ATP2A1):c.2615_2618del:p.His872fs	coding	Pathogenic
16	28903310	TC	T	C28903314T	ATP2A1	NM_004320.6(ATP2A1):c.2863-9del	noncoding	Benign
16	28904018	TG	T	G28904027C	ATP2A1	NM_004320.6(ATP2A1):c.*38-153del	noncoding	Benign
16	28904018	T	TG	C28904028G	ATP2A1	NM_004320.6(ATP2A1):c.*38-153dup	noncoding	Benign
16	28936174	G	GA	G28936178A	CD19	NM_001770.6(CD19):c.971dup:p.Arg325fs	coding	Pathogenic
16	28937388	T	TC	G28937394C	CD19	NM_001770.6(CD19):c.1303+18dup	noncoding	Benign
16	28937634	TGA	T	G28937637A	CD19	NM_001770.6(CD19):c.1386_1387del:p.Asn463fs	coding	Pathogenic
16	28939253	A	AGTGTGTGT	A28939278G	CD19	NM_001770.6(CD19):c.*129GT[16]	noncoding	Benign
16	28984905	T	TG	C28984914G	LAT	NM_001014989.2(LAT):c.52dup:p.Ala18fs	coding	Pathogenic
16	28989854	AG	A	G28989858C	LAT	NM_001014987.2(LAT):c.622+19del	noncoding	Benign
16	29798313	TACAC	T	A29798344G	KIF22	NM_007317.3(KIF22):c.267-60AC[15]	noncoding	Benign
16	29799198	CAG	C	A29799199G	KIF22	NM_007317.3(KIF22):c.759+15_759+16del	noncoding	Benign
16	29813274	A	AC	G29813279C	PRRT2	NM_145239.3(PRRT2):c.224dup:p.Ala76fs	coding	Pathogenic
16	29813302	AG	A	G29813304C	PRRT2	NM_145239.3(PRRT2):c.250del:p.Ala84fs	coding	Pathogenic/Likely_pathogenic
16	29813320	T	TA	G29813323A	PRRT2	NM_145239.3(PRRT2):c.268dup:p.Ser90fs	coding	Pathogenic
16	29813553	AC	A	C29813557T	PRRT2	NM_145239.3(PRRT2):c.503del:p.Pro168fs	coding	Pathogenic
16	29813596	ATG	A	T29813597G	PRRT2	NM_145239.3(PRRT2):c.543_544del:p.Asn181fs	coding	Pathogenic
16	29813646	CCT	C	C29813647G	PRRT2	NM_145239.3(PRRT2):c.593_594del:p.Pro198fs	coding	Pathogenic/Likely_pathogenic
16	29813668	C	CA	T29813676A	PRRT2	NM_145239.3(PRRT2):c.621dup:p.Ser208fs	coding	Pathogenic
16	29813693	G	GC	G29813694C	PRRT2	NM_145239.3(PRRT2):c.639_640insC:p.Ala214fs	coding	Pathogenic
16	29813762	AG	A	G29813764A	PRRT2	NM_145239.3(PRRT2):c.710del:p.Gly237fs	coding	Pathogenic
16	29813795	CA	C	A29813796G	PRRT2	NM_145239.3(PRRT2):c.742del:p.Ser248fs	coding	Pathogenic
16	29814357	GA	T	G29814357T	PRRT2	NM_145239.3(PRRT2):c.904_905delinsT:p.Asp302fs	coding	Pathogenic
16	29814364	ACGGGGCCCAGCGTCTGGGC	A	G29814369T	PRRT2	NM_145239.3(PRRT2):c.916_934del:p.Gly305_Ala306insTer	coding	Pathogenic
16	29814418	TG	T	G29814424A	PRRT2	NM_145239.3(PRRT2):c.971del:p.Gly324fs	coding	Pathogenic/Likely_pathogenic
16	29814424	GAGTC	G	A29814425C	PRRT2	NM_145239.3(PRRT2):c.972_975del:p.Val325fs	coding	Pathogenic
16	29985595	TG	T	G29985600C	TAOK2	NM_016151.4(TAOK2):c.1788+22del	noncoding	Benign
16	30026818	GC	G	C30026819G	TLCD3B	NM_031478.6(TLCD3B):c.234del:p.Gln79fs	coding	Pathogenic
16	30055011	CCT	C	C30055012G	ALDOA	NM_001365304.2(LOC112694756):c.150+85_150+86del	noncoding	Benign
16	30086392	A	AG	C30086398G	TBX6	NM_004608.4(TBX6):c.1143dup:p.Tyr382fs	coding	Pathogenic
16	30086589	CAG	C	A30086592G	TBX6	NM_004608.4(TBX6):c.1018_1019del:p.Leu340fs	coding	Pathogenic
16	30186710	GCA	G	C30186713G	CORO1A	NM_007074.4(CORO1A):c.314_315del:p.Thr105fs	coding	Pathogenic
16	30187820	CTG	C	T30187823G	CORO1A	NM_007074.4(CORO1A):c.855_856del:p.Cys285fs	coding	Pathogenic
16	30704156	GC	G	C30704157A	SRCAP	NM_006662.3(SRCAP):c.148del:p.His50fs	coding	Pathogenic
16	30710762	CCCACCCTCTG	TGT	C30710762T	SRCAP	NM_006662.3(SRCAP):c.1143_1153delinsTGT:p.Pro382fs	coding	Pathogenic/Likely_pathogenic
16	30711552	CT	C	T30711557G	SRCAP	NM_006662.3(SRCAP):c.1319-14del	noncoding	Benign
16	30728996	CGGTCT	C	G30728998A	SRCAP	NM_006662.3(SRCAP):c.5691_5695del:p.Ser1898fs	coding	Pathogenic
16	30729417	ATGCC	A	T30729422A	SRCAP	NM_006662.3(SRCAP):c.5977_5980del:p.Cys1993fs	coding	Pathogenic/Likely_pathogenic
16	30737257	C	CT	C30737259T	SRCAP	NM_006662.3(SRCAP):c.7218dup:p.Gln2407fs	coding	Pathogenic
16	30737282	C	CA	T30737284A	SRCAP	NM_006662.3(SRCAP):c.7243dup:p.Ile2415fs	coding	Pathogenic
16	30751270	A	AC	A30751276C	PHKG2	NM_000294.3(PHKG2):c.265dup:p.His89fs	coding	Pathogenic
16	30753040	A	AT	G30753042T	PHKG2	NM_000294.3(PHKG2):c.327-191dup	noncoding	Benign
16	30753538	AC	A	C30753540T	PHKG2	NM_000294.3(PHKG2):c.539del:p.Pro180fs	coding	Pathogenic
16	30756181	GA	AG	G30756181A	PHKG2	NM_000294.3(PHKG2):c.557-1_557delinsAG	noncoding	Pathogenic
16	30756516	ACCTGGTGAGCGGGGGCTGAGAGGACAGTAGGGGAGG	A	T30756519C	PHKG2	NM_000294.3(PHKG2):c.800_801+34del	coding	Pathogenic
16	30757171	GCTCTGGC	G	T30757182A	PHKG2	NM_000294.3(PHKG2):c.*78TGGCCTC[1]	coding	Benign
16	30961461	C	CG	C30961463G	SETD1A	NM_014712.3(SETD1A):c.442dup:p.Ala148fs	coding	Pathogenic
16	30964967	T	TAC	C30964972A	SETD1A	NM_014712.3(SETD1A):c.1228_1229dup:p.Ser411fs	coding	Pathogenic
16	30964994	A	AGCCG	C30965002G	SETD1A	NM_014712.3(SETD1A):c.1256_1259dup:p.Thr421fs	coding	Pathogenic
16	30965041	AC	A	C30965046G	SETD1A	NM_014712.3(SETD1A):c.1304del:p.Pro435fs	coding	Pathogenic
16	30987793	G	GGA	C30987795A	HSD3B7	NM_025193.4(HSD3B7):c.721_722insAG:p.Ala241fs	coding	Pathogenic
16	30992641	C	CGG	T30992652G	STX1B	NM_052874.5(STX1B):c.*178_*179dup	noncoding	Benign
16	30992641	C	CG	T30992652G	STX1B	NM_052874.5(STX1B):c.*179dup	noncoding	Benign
16	30992641	CG	C	G30992651T	STX1B	NM_052874.5(STX1B):c.*179del	noncoding	Benign
16	30992693	G	GGGGGTGGAGGA	G30992701A	STX1B	NM_052874.5(STX1B):c.*127_*128insTCCTCCACCCC	noncoding	Benign
16	30993467	CTG	C	T30993470A	STX1B	NM_052874.5(STX1B):c.553_554del:p.Gln185fs	coding	Pathogenic
16	30997072	T	TG	A30997079G	STX1B	NM_052874.5(STX1B):c.355-14dup	noncoding	Benign
16	30997521	AG	A	G30997523T	STX1B	NM_052874.5(STX1B):c.334del:p.Leu112fs	coding	Pathogenic
16	31001092	ACT	A	T31001096A	STX1B	NM_052874.5(STX1B):c.205_205+1del	noncoding	Pathogenic
16	31109268	TCCGCTCCGGCCCCTCCTGGGAC	T	T31109273A	BCKDK	NM_005881.4(BCKDK):c.50_71del:p.Leu17fs	coding	Pathogenic
16	31109536	TG	T	G31109537A	BCKDK	NM_005881.4(BCKDK):c.222del:p.Met74fs	coding	Pathogenic
16	31184187	GTTTT	G	T31184190G	FUS	NM_004960.4(FUS):c.336-19_336-16del	noncoding	Benign
16	31184190	T	TG	T31184191G	FUS	NM_004960.4(FUS):c.336-19_336-18insG	noncoding	Benign
16	31184371	T	TGGTGGA	A31184400G	FUS	NM_004960.3(FUS):c.521_523+3dupGAGGTG	coding	Benign/Likely_benign
16	31184438	C	CT	G31184456T	FUS	NM_004960.4(FUS):c.523+59dup	noncoding	Benign
16	31184438	CT	C	T31184455G	FUS	NM_004960.4(FUS):c.523+59del	noncoding	Benign
16	31184820	GTCTTTTTACTT	G	T31184827G	FUS	NM_004960.4(FUS):c.524-112_524-102del	noncoding	Benign
16	31184923	C	CT	C31184927T	FUS	NM_004960.4(FUS):c.524-13dup	noncoding	Benign
16	31185076	A	AGTG	C31185084T	FUS	NM_004960.4(FUS):c.663TGG[3]:p.Gly231_Tyr232insGly	coding	Benign
16	31188289	G	GT	G31188300T	FUS	NM_004960.4(FUS):c.800-26dup	noncoding	Benign
16	31190413	A	AT	C31190421T	FUS	NM_004960.4(FUS):c.1292+22dup	noncoding	Benign/Likely_benign
16	31191068	G	GT	G31191070T	FUS	NM_004960.4(FUS):c.1500dup:p.Gly501fs	coding	Pathogenic
16	31191075	CAG	C	A31191078G	FUS	NM_004960.4(FUS):c.1509_1510del:p.Gly504fs	coding	Pathogenic
16	31191377	ATT	A	T31191393G	FUS	NM_004960.4(FUS):c.1542-6_1542-5del	noncoding	Benign/Likely_benign
16	31191406	CACAG	C	A31191411G	FUS	NM_004960.4(FUS):c.1554_1557del:p.Gln519fs	coding	Pathogenic
16	31459688	CG	C	G31459694A	ARMC5	NM_001105247.2(ARMC5):c.170del:p.Gly57fs	coding	Pathogenic
16	31459697	T	TC	G31459699C	ARMC5	NM_001105247.2(ARMC5):c.174dup:p.Glu59fs	coding	Pathogenic
16	31459805	CGTCG	C	T31459807C	ARMC5	NM_001105247.2(ARMC5):c.283_286del:p.Ser95fs	coding	Pathogenic
16	31466104	CT	C	T31466106C	ARMC5	NM_001105247.2(ARMC5):c.2025del:p.Leu676fs	coding	Pathogenic
16	31466512	CG	C	G31466517T	ARMC5	NM_001105247.2(ARMC5):c.2436del:p.Cys813fs	coding	Pathogenic
16	46660189	G	GTTTTTT	G46660191T	VPS35	NM_018206.6(VPS35):c.*282_*283insAAAAAA	noncoding	Benign
16	46660820	C	CAA	C46660840A	VPS35	NM_018206.6(VPS35):c.2212-188_2212-187dup	noncoding	Benign
16	46660820	C	CA	C46660840A	VPS35	NM_018206.6(VPS35):c.2212-188dup	noncoding	Benign
16	46669072	GA	G	A46669081T	VPS35	NM_018206.6(VPS35):c.1525-21del	noncoding	Benign
16	46681032	T	TACAC	T46681065A	VPS35	NM_018206.6(VPS35):c.324-211GT[18]	noncoding	Benign
16	46681032	T	TAC	T46681065A	VPS35	NM_018206.6(VPS35):c.324-211GT[17]	noncoding	Benign
16	46727222	AG	A	G46727225C	MYLK3	NM_182493.3(MYLK3):c.1914+13del	noncoding	Benign
16	46740163	TA	T	A46740169T	MYLK3	NM_182493.3(MYLK3):c.478-17del	noncoding	Benign
16	47515578	CAGATT	C	G47515580T	PHKB	NM_000293.3(PHKB):c.573_577del:p.Gln191fs	coding	Pathogenic
16	47580558	TA	T	A47580575G	PHKB	NM_000293.3(PHKB):c.774+217del	noncoding	Benign
16	47596426	G	GA	T47596434A	PHKB	NM_000293.3(PHKB):c.1265dup:p.Asn422fs	coding	Pathogenic
16	47650775	TATTA	T	A47650779T	PHKB	NM_000293.3(PHKB):c.1881-52_1881-49del	noncoding	Benign/Likely_benign
16	47660669	T	TA	G47660672A	PHKB	NM_000293.3(PHKB):c.2048dup:p.Ser684fs	coding	Pathogenic
16	47666019	TG	T	G47666020C	PHKB	NM_000293.3(PHKB):c.2427+1045del	coding	Pathogenic
16	47696144	TC	T	C47696145A	PHKB	NM_000293.3(PHKB):c.2896-236del	noncoding	Benign
16	47698601	C	CTT	G47698623T	PHKB	NM_000293.3(PHKB):c.3144+33_3144+34dup	noncoding	Benign
16	50719906	CCT	C	C50719909G	NOD2	NM_001370466.1(NOD2):c.2550-16_2550-15del	noncoding	Benign
16	50725356	AC	A	C50725357T	NOD2	NM_001370466.1(NOD2):c.2802-132del	noncoding	Benign
16	50782525	G	GGT	C50782543T	CYLD	NM_001378743.1(CYLD):c.1826+60GT[9]	noncoding	Benign
16	50786851	TTAGA	T	G50786854T	CYLD	NM_001378743.1(CYLD):c.1950-1_1952del	noncoding	Pathogenic
16	50791618	GA	G	A50791621G	CYLD	NM_001378743.1(CYLD):c.2172del:p.Val725fs	coding	Pathogenic
16	51137019	A	AGGGGC	T51137034C	SALL1	NM_002968.3(SALL1):c.*83GCCCC[3]	noncoding	Benign
16	51137582	CAG	C	G51137596A	SALL1	NM_002968.3(SALL1):c.3535-44CT[6]	noncoding	Benign/Likely_benign
16	51139648	GA	TT	G51139648T	SALL1	NM_002968.3(SALL1):c.2573_2574delinsAA:p.Leu858Gln	coding	Benign
16	51140797	CCT	C	T51140803C	SALL1	NM_002968.3(SALL1):c.1423_1424del:p.Arg475fs	coding	Pathogenic
16	51140853	CCTTCGC	TGTTTCA	C51140853T	SALL1	NM_002968.3(SALL1):c.1363_1369delinsTGAAACA:p.Ala455_Val457delinsTer	coding	Pathogenic
16	51140856	T	TCTGC	G51140858T	SALL1	NM_002968.3(SALL1):c.1365_1366insGCAG:p.Lys456fs	coding	Pathogenic
16	51141193	T	TA	T51141195A	SALL1	NM_002968.3(SALL1):c.1028dup:p.Leu344fs	coding	Pathogenic
16	51141194	A	AT	G51141196T	SALL1	NM_002968.3(SALL1):c.1027dup:p.Ile343fs	coding	Pathogenic
16	51141328	T	TCCAGCTGCTGCTG	A51141352C	SALL1	NM_002968.3(SALL1):c.881_893dup:p.Leu299fs	coding	Pathogenic
16	51141351	G	GA	G51141353A	SALL1	NM_002968.3(SALL1):c.870dup:p.Gln291fs	coding	Pathogenic
16	51141530	TC	T	C51141532A	SALL1	NM_002968.3(SALL1):c.691del:p.Glu231fs	coding	Pathogenic
16	51141655	G	GGA	A51141660G	SALL1	NM_002968.3(SALL1):c.565_566dup:p.Val190fs	coding	Pathogenic
16	51141744	C	CGCCGCT	T51141747C	SALL1	NM_002968.3(SALL1):c.477_478insAGCGGC:p.Ser159_Gly160insSerGly	coding	Benign/Likely_benign
16	51141746	C	CGCT	T51141747G	SALL1	NM_002968.3(SALL1):c.475_476insAGC:p.Ser159delinsLysArg	coding	Benign
16	51141831	CCGG	AAGTGCCGCTGCCGCTTTGTTAGCAAA	C51141831A	SALL1	NM_002968.3(SALL1):c.388_391delinsTTTGCTAACAAAGCGGCAGCGGCACTT:p.Pro130fs	coding	Pathogenic
16	51151096	TGA	T	A51151098T	SALL1	NM_002968.3(SALL1):c.76+68_76+69del	noncoding	Benign
16	51151128	CGT	C	G51151139C	SALL1	NM_002968.3(SALL1):c.76+26AC[5]	noncoding	Benign/Likely_benign
16	53445683	CACTATTTGTTTAGCACTTATCCACAGGAAATACTGTTAGGTATTATGTAGGACACAGGCATTTTTTAAAACACCAAACCCCACAGTCTCTGTCTTCTGAGAGCTTACAGTACAGTCAGCGAGATGAGGCAGGTATGAAGATTCCAGTGCATGCAATGCAGTGTGTTATAAAAGTCCCATGACTACCAGAGGGAATACAGATGTAAAACTTAGGAGGAAAAGAAATCACTCTGGATGAGCCAGTCAGGTAAGTTTACATGGAATAAGTAGAAATGGGTCTTGAAAGATGGGTACGAGTTTGATAGGTGAATTTGAAGATACAGATAGCACCTTCTGTGTAGAGGAAACAAGAAAAGACAAAAGCAGTAAAGCAAGAAGAAATGTGGGAGGTTAGTCAAGTTTTTTTTTCTAGAATTCTCAAGTTGTAGAGCCAGAATTAAGAGTAGCTTAAGTGTTAAGCTAAAAAAAATTGAATTTTATTTTGGTAGGCAACTAAAACTAGAAATAGTTTATCATGCGCCTATGGTAGAGAGGCTACTTTTAAAAGCAGAACACTGACATTTAATCCTTGCCATGGACTGGTGAACTAAGTACAGTATTGTACCCAAGTAGAGTAATCTTTTGACAGATGAAATGACTAAGGCCCAGGTGAGCAAGTACCCTAGCTAATGGCAGTGCTGGAACTAAATCTAATCTAATCTTCTCCACGGAATTTCGTTCTTCTGGGCACCTTGTTAGAATAAGGCTGTTGGGAGGTGGAGACCACAGATTTCTTGTCTAAAAGTTGTCAGAGGTTTTGGTAGAAAAGCCAAGCTTAAAGCAGGTCTGAAACTTGGCAGACTACTTGGCAATATACAACAGGTACTCTTAATGGATGGAAGTATAAGGAATTATAGGAAGCTCATAATTTACATTAAAAAGGCCTTTTGTGATTTGATATAGTCTGGAATATCTTTAAGGAGGGAGGGAGGGATACAGGTCATTAGCTATGATAAAGGAGAAAAAAATAAGGACATATCTGACTGCATATAGTGGTCCTAAAGCAGCATAGCATTGCTGTGTCATCAAAAGAACTATTTTTATTCATTTTATTTTCCACCTCACCTATCTTGCCCTCAAAAAACTTTAAAAAATTCTTTAAGAATTTTCTTTTCTTTGAGATGGGCTCTTTCCCTGGATCCCAGCTATTTCCTACCAATATTTTGTTAAGGCAGAACGTCCACGTTTTCCATGTGAAGCTGAATCTGTTGTCTCTCCCTTTAACTGTGGGTTTTATTTTACACCTGATTTATAATCATTTGGGATTTTTTTTTCTGATTCTTCTGTTGTCTCATGACTTTTTTTTTTCTTCCCCCAAAGGCGACAGCCCTGTACTGTGTCTGAAATTTTCCATTTTTGTTGGGTGCTTTTTATATATGCAAAAGGTAAGAAAATAGTAATATTTATTTAGATTTAATATGTCTATTTACATTTTCAGGTATTAATTTTGTCAACTTCTAATATGTATCAGGAAAAGATTTTCACTGAAAATTTTCTCAAGGGTTTTAATCCTAGATTCTTTTTTAAGTATTGCCTTTTCATCAAAGGATCTATTGGATTTCTTTACAATATCCAAATCTTCTCTTATTAAATGGAAAGTCCATTAACTTTGTTGTATACAACATCTTTTCTACCCAAAGCTACTCTTTTAAATTATGAGCTGAAAACACATTATTCTGTATATGCTTGTATTGTGAACTCTATTTTTCATGAGATGTATCTTATTTAGTTGAGCGCAATTACTGATCAACCTCAGAGCTGTTCAGATTTTTTTTTGTATCTTGTTCAGATAAGTATACTTAGTCAAATGCTTTTATATACTATTTATTTTCTTTCCCTTTTTTCTTGTCTCATTTAACCTACCCAAGGTCTGCATTCAGTGAAATACATGTCTCTATTATTTTTTGTCCTTTTTGTATTTATTTATTTATTTATTTATTTGAGATGGAATCTCATTCTGTCTCCCAGGGTAGATTGTAGTGGCACAATCTCGGCTCACTGCAGCCTACACCTCCCAGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCGAATAGCCGTGATTACAGGCGCCCACCACCATGCCCAGCTAATTTTTGTGTTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCCTGGCCTCCCACAGTGCTGGGATTATAGGCACGAGCCACTGCGCCCAGTTCCTTTTTATATTTCTATGTAGAAACAATTCTTTAAAGTAGATAGGAAAGTGCAGTTATATTATTATATAGCTTTCTTCTGTATACTATGTGGAATGCCTTTGCCACTAAGATGGCTCAATAAAATGCAAAGTTAACAAAGAATCTTAGAGCTGGAAGGAGTTTCATAAGTATAAGAGAGACTCTCATTATTAGATTAACTAGCTTAACTTACTTTATTTTATTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCCCACTGCAACCTCTGCTGCCCGGGTTCAAGCAATCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCCCGGCTAATTTTTTGTAGTTTTTAGTAGAGACGGAGTTTCACCATCTTGGCCAGGCTGGCCTTGAACTCCTGACCTCGTGATCCACCTGCGTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCACCCGGCCTAGCTTAACTCATTTACTTTATTTTTTATTTTTATTTTTATTTTTGAGACAGGATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTATGATCTCTGCTCACTGCAACCTCCGCCTCTTGTGTTCAAGTGATTCTTGTGGCTCAGCCTCTTGAGTAGCTGGGATTGCAGGCATGCACCATTATACCTGGCTAATTTTTGTATTTTTAGTAGTGTTGGGGTTTTGCCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCTCAGTCAGCTTAGTTACTTTAAAGATTAGGCAGCTGAGCCCAGAAACTAGCTGCTGGGAACAAAGCTAAGATTGAACTCAGATCTCCTGGTTCCTGGTTCTTAGTTTCATACTGGCTGTGAAGGCCTCTGGGAAGAATGTGTTACATTGTTGGTCTCCAGGTTTGATTTGTCCTGGTCCCTCTCTGGCTAATTAGGGTGAGAGCCGCCATCCTTCCTTCCCTGAGCTGCATGCTTGATTCAAGAGAAAAATCTTTCTTTTGTCATACATGACACTGGCATGTTTCTTTAGTGATGATAAAGGCGACATGATCAGTGGCATGAAATAAAGGTTTTGGAGTATATAAACCATTTTTACAGCGGCTACAAATTTTAGAATGTGTGACTGCTATTATGTATGATGGTAATCTTTTCATATGATTGTATTGGGCAAGTATGTCTCATTTCTAGGATTTTTATCTGTTTTGTTTGTCTTTTATGGCATATGTGTACTTAGAAGTAAATATAGTTGGTACTATATATAATATGTACAATACAATAAAAAATAATTTCATTGTCCTTATTTTGTTCTCACTGGACCTGTTGGGGTGGTTTTTTCTCTGTAATTAACTCAGTGTTTGACTTTTATCTCATTAATTCAGTTTATAATAATTCCACCTTAAGAACCTTTGTGGATTGGGCATGTTGGCATATGCCTGGAATCCTAGCTACTTGGGAGGTTGAGGTGGGAGAATCGCTTGAACCTGGGAAGCGGAGGCTGCAGTGAGCTGAGATTGCACCTCCAGTCTGGGCGACTTTGAGACCGTGTCTCGAAAAAAAAAAAAAAAAAAAAGAAACTTGGTCCTCTCACAGTCCACCACTGTGATCTTTTATAATACACGATGATCTTTTCTAATAGTCATTTAATTGCTTTAATTCAGTTCTCATTTATTTGGGGGAAAGGTGTACTCTTTTATAGCCACCTTTCTAATGACAAATAAGCCAACTCTGGAGATGAAACATTTCTATTTACTTGTTATCTTTGTTGATTAAAAGATAAAATACCTCACAAAGTCAGATTTATTTGTAAGGTCAGGATTTGAAATAGAAAATACGTCATGTTGAGAGAGTCCTAGAATTTAATTTAAATTAGATTCTGATCTTTAGGGGCATTTCAGCTTTTTATTAGATGTTACAGTACTGCCTTTTTTTTTTTTTTTTTTTGCCTTCTATGGCAAGTGCACACCAGTAACAAGTTTAGGCTTGTTGGTGTGATGGGCTTTGTAGCTTGAAATCAGTAGGTGCTACTTACTTCCTTTTTTACACATGAGGAACCAAGTATATTTTAATATTAAACCTCTTTATAGAAGAACCAAGCAAGTTGGTTTGGCTGTATCAATGCACAGTTTAATGTGTTGATTATCGTTTGCCTCTTTGGCAGAGAAGAATTTTTTTTTCTCTTTAGTTCATTTAAGTTGATTTGTTGAATGTTTCCATCTATACAAAAAAAGAATTGCTTTGTATACGCTGAGGTAAGTGGTAACTTTCTTTGGAGGAACAGAGAGAAAGGGAAACCTGAAACAAAGCTGCAGGTGTGTGTGTGTGTGTACATGTACACTTGGGTAGGCGTTAAGTGTGAAATGCTGAGGTTTGGAAATAATTCTTCATATGTATGTTAGCTATTTAAATTGAATTTATCTGATGATACAAGAATGTAAAATCACCATGAAGCATACATGTGCAGTGTTTAACTAAAAAAGGATGGGCTTGAAGTTATAAAATAACTAGAAATAATTCTTAATTTCTAGAAAATTAAGATAATAATAAAATGGTTTAACTACACGTAAAAATGTGTTCAGTGTTAGAGTTCAACCAGCACTGCAGAAATTACATGTTTCTGTCAGTTTAGGTTTTTGATTTCTTATTTCCCTGTTACCAAGCATCAGCAATTATTCTTGGGATTATTAGCCCTGGAATTGAAAGATATTTAATGGTACTCCTGTTGCATTAATTTGTCTGAGTTTATGTAGAAAAGTATTAAAAATGTTACTGTTGGAGTCTGATAAAAAGTTCTGGTCTTTTAAAAATATGTGTATGAGAAATAGCATGAACTCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAAAAATGTATATGAGAATAATTAAGTGAATTATTTTTTCGGCTGTCTCCTAAGTATTTCTAATAATTTTCATGACAGAAAAATGTTTTCATGCAAAACAATTTCTTACAGTTTGAGATAATTTATAAATGTTTTGTGTTCAGAATTTTCAAAGAAAAGACCAATGATAAAGTTTTATTCAGCTACTAGGTATTTAATAAACACTTAATGAATGAATGGCATTTTTAGTAAAGTTATAGTTTTCACTAAGCTGTTAGACATTTATTAATTTATTAAAGGCCAGGCATGGTGGTTTACACCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGAAGGATCACTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACTCCATCTCTAAAAAAAGTTTTTAAATTAGCCATGTGTGGTGGCGTGTACCTGTAATTTCAGCTGCCCAGGAGGCTGAGACAGGAAGATCCCTTGAGCCCAAGAGGTTGAGGGTGCAGTGAGCCATGATCATACCACTGTACTCCAGCCTGGGTGACCCACCAAGACTCTGTCTCTTAAAAATAAATAAATAAAGAAATTTATTAAGATATAAGAGTAATATGTCAAAATGTAAATTTGCCAAAACACTTATTGTAATGAGTCAATTTTGTACAATTGTTTTGTAATGTCATAATAAGTAAAGGAAGAAATTTTTTAAAAATGTTACAAAGTCAATGCTAATTTAACTCTGTAACTGCTTATAATCCTGCAGGTAATTTCCCCATGATTAGTGATGATTTGGTCAATTCTTATCACCTGCTGCTGTGTGCTTTGGACTTAGTTTATGGAAATGCACTTCAGTGTTCTAATCGTAAAGAACTTGTGAACCCTAATTTTAAAGGTAGG	C	A53445684T	RBL2	NM_005611.4(RBL2):c.573-1358_766+5del	noncoding	Pathogenic
16	53453604	G	GA	G53453612A	RBL2	NM_005611.4(RBL2):c.926dup:p.Leu310fs	coding	Pathogenic
16	53464255	ATC	A	C53464261T	RBL2	NM_005611.4(RBL2):c.1596_1597del:p.Leu533fs	coding	Pathogenic
16	53611039	T	TC	A53611042C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3628dup:p.Asp1210fs	coding	Pathogenic
16	53619032	ATAGT	A	G53619035T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3605_3608del:p.Asn1202fs	coding	Pathogenic
16	53619033	TA	T	A53619034G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3607del:p.Tyr1203fs	coding	Pathogenic
16	53619095	AG	A	G53619097A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3545del:p.Pro1182fs	coding	Pathogenic
16	53638388	A	ATG	C53638390G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2981_2982insCA:p.Arg995fs	coding	Pathogenic
16	53641069	CT	C	T53641071C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2921del:p.Lys974fs	coding	Pathogenic
16	53641302	CAG	C	A53641305G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2855_2856del:p.Ser952fs	coding	Pathogenic
16	53641443	GA	G	A53641444T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2715del:p.Pro906fs	coding	Pathogenic
16	53641447	CT	C	T53641451G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2711del:p.Lys904fs	coding	Pathogenic
16	53641462	TAACTC	T	C53641465A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2692_2696del:p.Glu898fs	coding	Pathogenic
16	53645715	CAT	C	T53645717A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2591_2592del:p.Tyr864fs	coding	Pathogenic
16	53645725	C	CA	G53645727A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2582dup:p.Ser862fs	coding	Pathogenic
16	53645726	A	AC	G53645727C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2581_2582insG:p.Leu861fs	coding	Pathogenic
16	53645814	TG	T	G53645817A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2493del:p.Ser832fs	coding	Pathogenic
16	53645875	TG	T	G53645877C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2432del:p.Pro811fs	coding	Pathogenic
16	53645985	TG	T	G53645988T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2322del:p.Thr776fs	coding	Pathogenic
16	53648796	CTT	C	T53648798G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2304+166_2304+167del	noncoding	Benign
16	53649044	CT	C	T53649046G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2223del:p.Ala742fs	coding	Pathogenic
16	53652534	CCAAT	C	T53652538A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2149_2152del:p.Ile717fs	noncoding	Pathogenic
16	53652630	T	TTA	A53652631T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2056_2057insTA:p.Tyr686fs	coding	Pathogenic
16	53652659	AT	A	T53652661C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2027del:p.Asn676fs	coding	Pathogenic
16	53652727	CG	C	G53652730A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1959del:p.Glu654fs	coding	Pathogenic
16	53652766	C	CA	T53652771A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1920dup:p.Glu641Ter	coding	Pathogenic
16	53652937	CTGGTT	C	G53652939A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1745_1749del:p.Lys582fs	coding	Pathogenic
16	53656556	TTTCCATC	T	C53656559A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1608_1614del:p.Met537fs	coding	Pathogenic
16	53657464	TATTA	T	A53657468T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1566_1569del:p.Asn523fs	coding	Pathogenic
16	53657612	A	AT	G53657620T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1421dup:p.Asn474fs	coding	Pathogenic
16	53657616	TTTTG	T	T53657619C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1414_1417del:p.Gln472fs	coding	Pathogenic
16	53657630	AG	A	G53657631C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1403del:p.Ala468fs	coding	Pathogenic
16	53665013	C	CA	C53665018A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1104-5dup	noncoding	Benign
16	53672947	TAA	T	A53672948G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.950_951del:p.Leu317fs	coding	Pathogenic
16	53675115	T	TAA	T53675117A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.783_784insTT:p.Ile262fs	coding	Pathogenic
16	53686496	CT	C	T53686497C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.712del:p.Arg238fs	coding	Pathogenic
16	53686544	A	ATC	G53686548C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.663_664dup:p.Ile222fs	coding	Pathogenic
16	53687903	TG	T	G53687904C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.591del:p.Asn198fs	coding	Pathogenic
16	53687944	T	TCTGCATCTTGGAATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A53687962T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.550_551insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCAAGATGCAG:p.Asp184delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer	coding	Pathogenic
16	53687967	TA	T	A53687972C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.530-3del	noncoding	Benign
16	53692066	CT	C	T53692069C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.528del:p.Gly177fs	coding	Pathogenic
16	53692206	T	TTGAGGGTTTCATTTTGTTTTTCAAGCTCA	A53692239G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.360_388dup:p.Lys130fs	coding	Pathogenic
16	53692217	A	ATTTTGTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTC	A53692229T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.377_378insGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAACAAAA:p.Asn126fs	coding	Pathogenic
16	53692321	ATCTTT	A	T53692326G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.269_273del:p.Lys90fs	coding	Pathogenic
16	53692335	TTAAC	T	A53692338G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.256_259del:p.Val86fs	coding	Pathogenic
16	53696231	CA	C	A53696232G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.149del:p.Leu50fs	coding	Pathogenic
16	53700652	C	CA	T53700654A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.71dup:p.Met24fs	coding	Pathogenic
16	55488619	CAGCTGCA	C	A55488620C	MMP2	NM_004530.6(MMP2):c.910_916del:p.Ser304fs	coding	Pathogenic
16	55491817	CGTG	C	T55491819C	MMP2	NM_004530.6(MMP2):c.1199_1201del:p.Val400del	coding	Pathogenic
16	55491907	GA	G	A55491909C	MMP2	NM_004530.6(MMP2):c.1289del:p.Asn430fs	coding	Pathogenic
16	56192723	C	CGT	C56192727T	GNAO1	NM_020988.3(GNAO1):c.161+109_161+110dup	coding	Benign
16	56192726	GCA	G	A56192750C	GNAO1	NM_020988.3(GNAO1):c.161+111CA[11]	coding	Benign
16	56192726	G	GCA	C56192752A	GNAO1	NM_020988.3(GNAO1):c.161+111CA[13]	coding	Benign
16	56192726	G	GCACA	C56192752A	GNAO1	NM_020988.3(GNAO1):c.161+111CA[14]	coding	Benign
16	56340553	ACTGCCCCCAC	A	C56340557G	GNAO1	NM_020988.3(GNAO1):c.723+3697_723+3706del	noncoding	Benign
16	56351396	GAG	AAA	G56351396A	GNAO1	NM_020988.3(GNAO1):c.736_738delinsAAA:p.Glu246Lys	coding	Pathogenic
16	56355010	ACAT	A	C56355017T	GNAO1	NM_020988.3(GNAO1):c.1023CAT[2]:p.Ile344del	coding	Pathogenic/Likely_pathogenic
16	56355125	TAC	T	A56355154C	GNAO1	NM_020988.3(GNAO1):c.*28+45AC[14]	noncoding	Benign
16	56355125	T	TACACACACACAC	C56355156A	GNAO1	NM_020988.3(GNAO1):c.*28+45AC[21]	noncoding	Benign
16	56355125	T	TACACACACAC	C56355156A	GNAO1	NM_020988.3(GNAO1):c.*28+45AC[20]	noncoding	Benign
16	56355125	T	TACAC	C56355156A	GNAO1	NM_020988.3(GNAO1):c.*28+45AC[17]	noncoding	Benign
16	56355125	T	TAC	C56355156A	GNAO1	NM_020988.3(GNAO1):c.*28+45AC[16]	noncoding	Benign
16	56355207	T	TTA	C56355228T	GNAO1	NM_020988.3(GNAO1):c.*28+127TA[11]	noncoding	Benign
16	56355207	T	TTATA	C56355228T	GNAO1	NM_020988.3(GNAO1):c.*28+127TA[12]	noncoding	Benign
16	56484816	CTTCGAAT	C	T56484818G	BBS2	NM_031885.5(BBS2):c.2104_2110del:p.Ile702fs	coding	Pathogenic
16	56497774	TAGAC	T	A56497777G	BBS2	NM_031885.5(BBS2):c.1762_1765del:p.Val588fs	coding	Pathogenic/Likely_pathogenic
16	56497877	T	TG	A56497879G	BBS2	NM_031885.5(BBS2):c.1662dup:p.Thr555fs	coding	Pathogenic
16	56498445	TAA	T	A56498446G	BBS2	NM_031885.5(BBS2):c.1649_1650del:p.Leu550fs	coding	Pathogenic
16	56498520	TGTGA	T	A56498524T	BBS2	NM_031885.5(BBS2):c.1572_1575del:p.His525fs	coding	Pathogenic
16	56498706	GA	G	A56498718G	BBS2	NM_031885.5(BBS2):c.1528-139del	noncoding	Benign
16	56498706	G	GA	G56498719A	BBS2	NM_031885.5(BBS2):c.1528-150dup	noncoding	Benign
16	56500624	C	CA	G56500644A	BBS2	NM_031885.5(BBS2):c.1397+211dup	noncoding	Benign
16	56500879	TC	T	C56500880A	BBS2	NM_031885.5(BBS2):c.1371del:p.Lys458fs	coding	Pathogenic
16	56501359	A	ACCATTAC	A56501360C	BBS2	NM_031885.5(BBS2):c.1218_1219insGTAATGG:p.Ser407fs	coding	Pathogenic
16	56501416	AG	A	G56501417A	BBS2	NM_031885.5(BBS2):c.1161del:p.Ser388fs	coding	Pathogenic
16	56502720	CG	C	G56502722T	BBS2	NM_031885.5(BBS2):c.892del:p.Arg298fs	coding	Pathogenic
16	56511192	AC	A	C56511194T	BBS2	NM_031885.5(BBS2):c.437del:p.Gly146fs	coding	Pathogenic/Likely_pathogenic
16	56511227	GA	G	A56511228G	BBS2	NM_031885.5(BBS2):c.402del:p.Ala136fs	coding	Pathogenic/Likely_pathogenic
16	56511295	TA	T	A56511299G	BBS2	NM_031885.5(BBS2):c.346-12del	noncoding	Benign
16	56514519	T	TAAAAGGGCATCATAGCCAAGCTC	G56514544A	BBS2	NM_031885.5(BBS2):c.256_278dup:p.Val94fs	coding	Pathogenic
16	56514542	CA	C	A56514543G	BBS2	NM_031885.5(BBS2):c.255del:p.Glu86fs	coding	Pathogenic
16	56514622	TG	T	G56514624A	BBS2	NM_031885.5(BBS2):c.175del:p.Gln59fs	coding	Pathogenic
16	56519749	GC	G	C56519752G	BBS2	NM_031885.5(BBS2):c.113del:p.Gly38fs	coding	Pathogenic
16	56519752	CG	C	G56519753T	BBS2	NM_031885.5(BBS2):c.110del:p.Thr37fs	coding	Pathogenic
16	56834113	A	AC	A56834119C	NUP93	NM_014669.5(NUP93):c.1538-10dup	noncoding	Benign
16	56834422	C	CTT	G56834425T	NUP93	NM_014669.5(NUP93):c.1718_1719dup:p.Val574fs	coding	Pathogenic
16	56839701	T	TA	C56839703A	NUP93	NM_014669.5(NUP93):c.2220+98dup	noncoding	Benign
16	56844802	T	TC	T56844804C	NUP93	NM_014669.5(NUP93):c.*194dup	noncoding	Benign
16	56865253	AAC	A	C56865255G	SLC12A3	NM_001126108.2(SLC12A3):c.20_21del:p.Thr7fs	coding	Pathogenic/Likely_pathogenic
16	56865278	TTG	T	T56865281C	SLC12A3	NM_001126108.2(SLC12A3):c.46_47del:p.Cys16fs	coding	Pathogenic
16	56865289	GC	G	C56865290G	SLC12A3	NM_001126108.2(SLC12A3):c.55del:p.Arg19fs	coding	Pathogenic
16	56865294	TC	T	C56865295A	SLC12A3	NM_001126108.2(SLC12A3):c.60del:p.Phe20fs	coding	Pathogenic
16	56865391	CA	C	A56865392T	SLC12A3	NM_001126108.2(SLC12A3):c.157del:p.Met53fs	coding	Pathogenic
16	56867077	G	GCAGA	C56867084G	SLC12A3	NM_001126108.2(SLC12A3):c.293_296dup:p.His99fs	coding	Pathogenic
16	56867115	AG	A	G56867116C	SLC12A3	NM_001126108.2(SLC12A3):c.329del:p.Ser110fs	coding	Pathogenic
16	56867206	A	AG	T56867212G	SLC12A3	NM_001126108.2(SLC12A3):c.424dup:p.Val142fs	coding	Pathogenic
16	56867210	GGTGATGGTGAGTGGGGTGTGGGTGGTGC	G	G56867217T	SLC12A3	NM_001126108.2(SLC12A3):c.429+1_429+28del	coding	Pathogenic/Likely_pathogenic
16	56869768	C	CCT	C56869772T	SLC12A3	NM_001126108.2(SLC12A3):c.547_548dup:p.Ile184fs	coding	Pathogenic/Likely_pathogenic
16	56869817	CAA	C	A56869818G	SLC12A3	NM_001126108.2(SLC12A3):c.595_596del:p.Lys199fs	coding	Pathogenic
16	56870151	CG	C	G56870153C	SLC12A3	NM_001126108.2(SLC12A3):c.659del:p.Gly220fs	coding	Pathogenic
16	56872415	T	TC	A56872422C	SLC12A3	NM_001126108.2(SLC12A3):c.923dup:p.Ser309fs	coding	Pathogenic
16	56872734	TC	T	C56872738T	SLC12A3	NM_001126108.2(SLC12A3):c.1047del:p.Ser350fs	coding	Pathogenic
16	56873040	CT	C	T56873041C	SLC12A3	NM_001126108.2(SLC12A3):c.1095+255del	noncoding	Benign
16	56877536	ATAATGATTGAACACGCTGTGAGGGCTGGCGGGGAGGGGAGTCCTGGTCTAGGATGTCAATGTGGATTAATTTATTTCACCAACATCCCTGACAGATGAGGGGCCGGGGTGTGAGAGCACAGCCCCCTGCCCAGCTGGCCGCCTGGAAGTGAACCCGGGCAGGCCGACTCCAGAGCCCACCACCCTGCCCCCACCCTTACCACCCTCACAGCAAACCCTGGCCAAGTGGCCTCTGTGGCGCAGGCGTGGAGCTGTTGAATTTCTTCTCTCTGCCTCCATTTCCCAGGGCCTTGGGTGGAGTCTCCGACCCGTGATCTTGGTTGTATTCATCCCTCTCTGGGGGTCCTCAGTCATGAGGCTCCTTCCTCTCTGTGCTGGAACAGGGGCTCTGAGGGGCCAAGGTCAGAGGTTGCTGCCCCCAGCCTCAGCCTTAGACAAGGAGGACAGGCCTGGAAGGAGGCCCAGGGGCTGCCTAATGTCCTCCGTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCTTCAGGACCCTGCTATAGCCATCCCCAAGGGGACCCTCATGGCCATTTTCTGGACGACCATTTCCTACCTGGCCATCTCAGCCACCATTGGTAAGTGGCCGGCCCAGCCAGTCAGGAGGGGGAGGGACCTGGCCTCCACCCTGCAGTGTCCCAAAACCCTGACCACTGGAGGGGATCAGAGGGTGGGGTTCGACTCTCTAACAACAGGGAGAGCTGGGCTGGGAGGGTGTGGCGACCTTAGGATGTGAAGCCTTGAACCTATCTCTGGGGTATCTTGGCAATGATCAGAGCATCTTCATGGCAGTGGGCGTGGTGGGGTCAGACCAGGCTCCTTGGGTCCCTTGAAGGCCCAGATTCATGAGTGTGAAGATCCTACAGGACAAATCTAGGAGTGATGATGATGATGATGATGATGATAATGATACCAGTAACTGACTTCCCATGTGCCCCGCCCTTTGCATGCCAGTCCTATCATTGTCATTTTCCCTATTTCACCAAGGAGAAAATGGGGGCTCAGAGACGTTAAGTGACCTGCCCAGGGTCACACAGCCACTGAATGGTGGAGCCAGGCTTTGAGCCCAGGTCTGGGCTGTTAACACCTGCCTTGAACTGAGATCCTCACAGATGTACTTCCTCCCAGTGGCCCCGTTTGAGG	A	T56877537C	SLC12A3	NM_001126108.2(SLC12A3):c.1096-540_1181-347del	noncoding	Pathogenic
16	56879146	GCTGGC	G	G56879150C	SLC12A3	NM_001126108.2(SLC12A3):c.1258_1262del:p.Ala420fs	coding	Pathogenic
16	56879572	CT	C	T56879573G	SLC12A3	NM_001126108.2(SLC12A3):c.1367del:p.Leu456fs	coding	Pathogenic
16	56882048	CA	C	A56882063G	SLC12A3	NM_001126108.2(SLC12A3):c.1568-333del	noncoding	Benign
16	56884057	CCTT	C	T56884059A	SLC12A3	NM_001126108.2(SLC12A3):c.1680_1682del:p.Ser561del	coding	Pathogenic
16	56884182	CTA	C	A56884184G	SLC12A3	NM_001126108.2(SLC12A3):c.1805_1806del:p.Tyr602fs	coding	Pathogenic
16	56884185	TG	T	G56884186T	SLC12A3	NM_001126108.2(SLC12A3):c.1807del:p.Val603fs	coding	Pathogenic
16	56886363	GC	G	C56886368A	SLC12A3	NM_001126108.2(SLC12A3):c.1930del:p.Gln644fs	noncoding	Pathogenic
16	56886951	AG	A	G56886954A	SLC12A3	NC_000016.9:g.56920864del	noncoding	Pathogenic
16	56887005	CCAAGTGGCTGA	C	C56887006A	SLC12A3	NM_001126108.2(SLC12A3):c.2091_2101del:p.Lys698fs	coding	Pathogenic
16	56888014	CT	C	T56888015A	SLC12A3	NM_001126108.2(SLC12A3):c.2269del:p.Tyr757fs	coding	Pathogenic
16	56892092	T	TG	T56892094G	SLC12A3	NM_001126108.2(SLC12A3):c.2379dup:p.Phe794fs	coding	Pathogenic
16	56899612	G	GAGCA	G56899617A	SLC12A3	NM_001126108.2(SLC12A3):c.2717_2720dup:p.His907fs	coding	Pathogenic
16	56902451	GCGGC	G	C56902452G	SLC12A3	NM_001126108.2(SLC12A3):c.2800_2803del:p.Arg934fs	coding	Pathogenic
16	56902466	CT	C	T56902467G	SLC12A3	NM_001126108.2(SLC12A3):c.2815del:p.Trp939fs	coding	Pathogenic
16	56902503	G	GAGGGGTGCACCCTC	T56902504A	SLC12A3	NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC:p.Val951fs	coding	Pathogenic
16	56902766	GTCC	G	T56902788A	SLC12A3	NM_001126108.2(SLC12A3):c.2856+259TCC[7]	noncoding	Benign
16	56902776	TCC	T	C56902777T	SLC12A3	NM_001126108.2(SLC12A3):c.2856+269_2856+270del	noncoding	Benign
16	56902779	TC	T	C56902781T	SLC12A3	NM_001126108.2(SLC12A3):c.2856+273del	noncoding	Benign
16	56939921	CTT	C	T56939924G	HERPUD1	NM_014685.4(HERPUD1):c.584_585del:p.Phe195fs	coding	Pathogenic
16	56962733	GCC	G	C56962736A	CETP	NM_000078.3(CETP):c.119-274_119-273del	noncoding	Benign
16	56981423	GCTGCCAGGAAGA	G	C56981424A	CETP	NM_000078.3(CETP):c.1214+199_1214+210del	noncoding	Benign
16	57207890	A	AC	A57207892C	RSPRY1	NM_133368.3(RSPRY1):c.351-167dup	noncoding	Benign
16	57213965	CTATT	C	T57213970C	RSPRY1	NM_133368.3(RSPRY1):c.702+24_702+27del	noncoding	Benign
16	57216069	A	AT	A57216088T	RSPRY1	NM_133368.3(RSPRY1):c.703-20dup	noncoding	Benign
16	57248574	C	CAAGTA	C57248580A	ARL2BP	NM_012106.4(ARL2BP):c.139_143dup:p.Tyr48Ter	coding	Pathogenic
16	57447597	CG	C	G57447601A	COQ9	NM_020312.4(COQ9):c.73+23del	noncoding	Benign
16	57453186	CA	C	A57453190C	COQ9	NM_020312.4(COQ9):c.378+254del	noncoding	Benign
16	57457944	G	GT	A57457946T	COQ9	NM_020312.4(COQ9):c.607-301dup	noncoding	Benign
16	57459890	TCATTTG	T	C57459897T	COQ9	NM_020312.4(COQ9):c.868-154_868-149del	noncoding	Benign
16	57628943	TGA	T	A57628947T	ADGRG1	NM_201525.4(ADGRG1):c.-36+145_-36+146del	noncoding	Benign
16	57650322	TC	T	C57650324T	ADGRG1	NM_201525.4(ADGRG1):c.37del:p.Leu13fs	coding	Pathogenic
16	57651562	T	TG	T57651565G	ADGRG1	NM_201525.4(ADGRG1):c.429dup:p.Trp144fs	coding	Pathogenic
16	57653333	CCAGT	C	C57653334A	ADGRG1	NM_201525.4(ADGRG1):c.619_620+2del	coding	Pathogenic
16	57653401	G	GC	T57653402C	ADGRG1	NM_201525.4(ADGRG1):c.620+66_620+67insC	noncoding	Benign
16	57655318	G	GGT	C57655336T	ADGRG1	NM_201525.4(ADGRG1):c.769-80GT[9]	noncoding	Benign
16	57655318	GGT	G	T57655334C	ADGRG1	NM_201525.4(ADGRG1):c.769-80GT[7]	noncoding	Benign
16	57655486	AAG	A	G57655490C	ADGRG1	NM_201525.4(ADGRG1):c.860_861del:p.Arg287fs	coding	Pathogenic
16	57655529	AG	A	G57655531T	ADGRG1	NM_201525.4(ADGRG1):c.900+1del	coding	Pathogenic
16	57655998	T	TG	C57656004G	ADGRG1	NM_201525.4(ADGRG1):c.1017+11dup	noncoding	Benign
16	57659451	AC	A	C57659453T	ADGRG1	NM_201525.4(ADGRG1):c.1327del:p.Leu443fs	coding	Pathogenic
16	57659507	GC	G	C57659510T	ADGRG1	NM_201525.4(ADGRG1):c.1384del:p.Ala461_Leu462insTer	coding	Pathogenic
16	57661930	TC	T	C57661932T	ADGRG1	NM_201525.4(ADGRG1):c.1900del:p.Leu634fs	coding	Pathogenic
16	57661966	GT	G	T57661967A	ADGRG1	NM_201525.4(ADGRG1):c.1933+2del	coding	Pathogenic
16	57744718	G	GGTGT	T57744737G	KATNB1	NM_005886.3(KATNB1):c.289+208GT[11]	noncoding	Benign
16	57744718	G	GGT	T57744737G	KATNB1	NM_005886.3(KATNB1):c.289+208GT[10]	noncoding	Benign
16	57744776	CGT	C	G57744801T	KATNB1	NM_005886.3(KATNB1):c.289+266GT[12]	noncoding	Benign
16	57744776	CGTGT	C	G57744799T	KATNB1	NM_005886.3(KATNB1):c.289+266GT[11]	noncoding	Benign
16	57744776	CGTGTGTGTGT	C	G57744793T	KATNB1	NM_005886.3(KATNB1):c.289+266GT[8]	noncoding	Benign
16	57753107	TC	T	C57753109T	KATNB1	NM_005886.3(KATNB1):c.888del:p.Ser297fs	coding	Pathogenic
16	57897489	CCCGTGCGCCACCACGTTGG	C	A57897499G	CNGB1	NM_001297.5(CNGB1):c.3131_3149del:p.Ala1044fs	coding	Pathogenic/Likely_pathogenic
16	57901417	TC	T	C57901418A	CNGB1	NM_001297.5(CNGB1):c.2910del:p.Met970fs	coding	Pathogenic
16	57901614	GC	G	C57901615T	CNGB1	NM_001297.5(CNGB1):c.2805del:p.Glu935fs	coding	Pathogenic
16	57903957	TGGCGGCCC	T	G57903958C	CNGB1	NM_001297.5(CNGB1):c.2651_2658del:p.Gly884fs	coding	Pathogenic
16	57904869	AAT	A	T57904873A	CNGB1	NM_001297.5(CNGB1):c.2497_2498del:p.Ile833fs	coding	Pathogenic
16	57912916	AG	A	G57912921A	CNGB1	NM_001297.5(CNGB1):c.2369+13del	noncoding	Benign
16	57916139	CGA	C	G57916142C	CNGB1	NM_001297.5(CNGB1):c.2205_2206del:p.Arg736fs	coding	Pathogenic
16	57917347	T	TA	T57917350A	CNGB1	NM_001297.5(CNGB1):c.2086dup:p.Tyr696fs	coding	Pathogenic
16	57919104	A	AG	C57919106G	CNGB1	NM_001297.5(CNGB1):c.1951dup:p.Leu651fs	coding	Pathogenic
16	57920503	GC	G	C57920504G	CNGB1	NM_001297.5(CNGB1):c.1684del:p.Ala562fs	coding	Pathogenic
16	57923259	CA	C	A57923260G	CNGB1	NM_001297.5(CNGB1):c.1643+13del	noncoding	Benign/Likely_benign
16	57931758	GA	G	A57931759T	CNGB1	NM_001297.5(CNGB1):c.1492del:p.Ser498fs	coding	Pathogenic
16	57939468	TC	T	C57939470T	CNGB1	NM_001297.5(CNGB1):c.1333del:p.Glu445fs	coding	Pathogenic
16	57963015	TC	T	C57963016A	CNGB1	NM_001297.5(CNGB1):c.339del:p.Ile114fs	coding	Pathogenic
16	57967168	TC	T	C57967169T	CNGB1	NM_001297.5(CNGB1):c.118del:p.Glu40fs	coding	Pathogenic
16	58001495	GC	G	C58001499T	USB1	NM_024598.4(USB1):c.16del:p.Leu6fs	coding	Pathogenic
16	58001543	CG	C	G58001546A	USB1	NM_024598.4(USB1):c.63del:p.Met22fs	coding	Pathogenic
16	58002581	CG	C	G58002586A	USB1	NM_024598.4(USB1):c.206del:p.Gly69fs	coding	Pathogenic
16	58010395	G	GT	C58010403T	USB1	NM_024598.4(USB1):c.449+290dup	noncoding	Benign
16	58014301	AT	A	T58014304A	USB1	NM_024598.4(USB1):c.481del:p.Tyr161fs	coding	Pathogenic
16	58020550	TCTCCTCCCCTC	T	C58020554T	USB1	NM_024598.4(USB1):c.*309_*319del	noncoding	Benign
16	58020561	C	CCTCT	T58020568C	USB1	NM_024598.4(USB1):c.*317CT[5]	noncoding	Benign/Likely_benign
16	58494832	T	TAA	G58494848A	NDRG4	NM_020465.4(NDRG4):c.73-118_73-117dup	noncoding	Benign
16	58494832	T	TA	G58494848A	NDRG4	NM_020465.4(NDRG4):c.73-117dup	noncoding	Benign
16	58506154	GTGTC	G	C58506158G	NDRG4	NM_001242835.2(NDRG4):c.373-229_373-226del	noncoding	Benign
16	58506156	GTC	G	C58506158G	NDRG4	NM_001242835.2(NDRG4):c.373-229_373-228del	noncoding	Benign
16	58507493	GAAAAC	G	A58507501T	NDRG4	NM_001242835.2(NDRG4):c.621-307_621-303del	noncoding	Benign
16	58523305	G	GA	G58523316A	CNOT1	NM_016284.5(CNOT1):c.6917+55dup	noncoding	Benign
16	58525562	C	CA	G58525564A	CNOT1	NM_016284.5(CNOT1):c.6604-204dup	noncoding	Benign
16	58537257	CGTAGTT	C	A58537260G	CNOT1	NM_016284.5(CNOT1):c.5415-43_5415-38del	noncoding	Benign
16	58539624	G	GA	T58539637A	CNOT1	NM_016284.5(CNOT1):c.4992+132dup	noncoding	Benign
16	58539679	C	CA	T58539681A	CNOT1	NM_016284.5(CNOT1):c.4992+88dup	noncoding	Benign
16	58578606	T	TA	T58578616A	CNOT1	NM_016284.5(CNOT1):c.1584+84dup	noncoding	Benign
16	58582994	T	TA	T58583004A	CNOT1	NM_016284.5(CNOT1):c.933+53dup	noncoding	Benign
16	58588692	TC	T	C58588693A	CNOT1	NM_016284.5(CNOT1):c.210+106del	noncoding	Benign
16	58599050	CA	C	A58599070G	CNOT1	NM_016284.5(CNOT1):c.102+185del	noncoding	Benign
16	58599050	C	CAAA	G58599071A	CNOT1	NM_016284.5(CNOT1):c.102+166_102+168dup	noncoding	Benign
16	66528994	C	CTT	C66528997T	TK2	NM_004614.5(TK2):c.447_448dup:p.Ser150fs	coding	Pathogenic
16	66529001	AC	A	C66529002A	TK2	NM_004614.5(TK2):c.441del:p.Tyr148fs	coding	Pathogenic
16	66548962	T	TA	G66548967A	TK2	NM_004614.5(TK2):c.156+15dup	noncoding	Benign
16	66549978	GC	G	C66549980T	TK2	NM_004614.5(TK2):c.83del:p.Gly28fs	coding	Pathogenic
16	66788278	CAA	C	A66788280G	TERB1	NM_001136505.2(TERB1):c.289_290del:p.Leu97fs	coding	Pathogenic
16	67065629	TGGCCTCCCAAAGTACTGGGATAACAGGCATTAGCCACTGGTGCCTAGCCTTTTTGTCTTAGTTGATTTTGTTATAGTATTTAAGAATTTCAACAGGGAGTTGAAATAAGTAGATTTTGGGTTAACTTACCAGTTTCTAGATAAATAATTGATACATGTAGTCAAACCCTGTGACCTTAAAACTTTTCTACTATATTTAAAAGACTGATTCACCTTACTGTTGCCTATTGGGAAAAGTAAAAAATAAATAAATAAAAAACTGTGAAATAGCTTGAATTAAATTTCATAAGTCCCATATAAAGGATAGCAGTGTTTTGTTCCGAATTATTTATGGACACCTAAAGATAACCACATACTACTTAATGTGATATAATAGTAAATATTATACCAGTTAAAGTTCTTTGGTTAAAAGCAGTAGAAATCAACTCTGGCTAACAAGACAAAAAAATAAAAAGAAAAAAAGATTAATTATCAGGAATCTGTGAGATAGCTTATAAAACTGAGGGGAGTATCAACAGCCTGATCCTGCATGCTCCAGGAACCCACGTTGAGGGAAGCAGTGCATGCTCTCTTCAGAGGGTGGTGGCTTCCAATTGTTTTCCATCTTTCTACCCAACATTCAAAAATCAAAGTGTCTGGCCGGGCATGGTAGCTCACGCCTGTAATCCTAGCACTTTTGGAGGCAAAGGCTGGCAGATTGCCTGAGCTCAGGAGTTCAGCACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGTGAGCGCCTGTAATCCCAGCTACTGGGGAGTCCGAGGTGGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCATTCCAGCCTGGGGAGCACAGCGAAACTCCATCTCAATCAATCAGTCAATCATAATTTTATTCATCTTTTCTACAGAGTTTATATAAGTAAGTTTAATCTTTTTATTTTCATGTGTCTGATGGTTTTCAATTATTTTCATCCTTTTCTGTGTCTTAGGTATATTTGAAGGCTCCCATGATTCTGAATGGAGTCTGTGTTATCTGGAAAGGCTGGATTGATCTCCAAAGACTGGATGGTATGGGCTGTCTGGAGTTTGATGAGGAGCGAGCCCAGGTAGGGTAACATCAGGCTTTATTGAGCATGGTCCCTTTAGTCCCTAATCTTGCCTTTGCCTGGGGACCTATTTTACCCAATTTTTAAGAGTAAGTATAGAAAGTATTGTGTTGAAGCAATATTGAGGAATCCTGAAAATGTTGATACTCAAATTCTGATCCTGATTTTGGGAAAGTTTTTTCTTCAGCAGTTCTAAATTTCATGGGTTATTCGTATCTGCTCAGTGGGTGCTTCAAAGTCCAGCAAGTAGCTCTTTAAAATATTTATTCTTGATCTTTAGAACACTATGAATAGGGAAAAAAGAAAAAACTGTTCAAAATAAAATGTAGGAGCCGTGCTTTTGGAATGCTTGAGTGAGGAGCTCAACAAGTCCTCTCCCAAGAAAGCAATGATAAAACTTGACAAAAATTGTTTAAAAAAAAAAAAAAAAAGCTGGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACGGATCACCTGAGACTTGAGGTCAGGATTTCGAGACCAGCCTGGCCATCATGATGAAACCCCATCTCTGCTAAAAATATAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAATCCCAGCTACTTGGGAAGTTGAGGCACGAGAATCGCTCGAACCCAGGAGGCAGAGATTGCGGTGAGCCGAGATTGCGCTACTGCACTCCAGGCTGGGCAACAGAACAAAACTCTGTCTCAAAAACAACAACAACAACGAACAACACCCATTTAAGGCCTCATGGAAGCTATTGAATCTCAGTAAGATCAGTGACAGTCTGTGTCATTTTAGTCAGGAGCTGCTCCCATTCCCCAGCTCTGTGGTCCCTCAGGTTCTTCCCTGGGCGGGCAGGGTAAGCCATGAGCACTGGTAGATCTGTTGTCCTGTCAAAGAGAGCTGACTTTATTAAAAGCAGGGCTTGGGAAAAAAAAAATCCATGCCCAGGCATATTGTTTAAAATGATAGAGGTCTCATTTGCTAACAGTCTGGCAAAGCTAGTGTTGCAGAAAGCAACAAAATGGCAGACCAGCCAGAAATTTATCAGGGAGATTCAGGGAAAGTGATAGGTAAAGTAGACCCTACTAAGATTACACTCATGTCATCCAGAAAGCTGTGTGCATGTACAAGGCTACACCTGCTCTCTTGAAGAGAACACAGAAGGTCCTTGCATGCTACTTTTCCCTGGATGAACACAAGGTAGACTGGCAAACTCCCTGATCTTTGAAAGCATTTCCCCAAGCTACACACAAGTCCAGTGGCAAAAGATGGAAGTCTGCTGACTCAAGATGTTTGGGTAAAAACTCTGACCAGTCATTGGCTGACGGCTGAACTATGCTGATCCAGGAACAACCCCCCAGAAAGCAAGACTTAAAAAAGACAGCTGTGCGCAGTGGCTCATGCTTATAATCCCAGCATTTGGGGAGGCCAAGATGGCAGGATCACATGAGCCCAAGAGTTAAAGACCAGCCTGGGCAACATGGTGAGACCCCATCTACACAAATAATTTTAAAAATTAACCAGGTGTGGTGGCATGTGTCTGTTAGTCCTAGCTACTTAGGAGGCTGAGGTGGAAGGATCGCTTGAGTCCAGGAGCTCAAGGCTGCAGTGAACTATGATCATGCCAGTGTACTGCAGCCTGGGCAACAGAGTGAGATCCTTTCTCTAAAAAGAAAAAAAGAGAAAAACTGAGCAGTGACATCAGAGGCTGTGCACTGCTGTGGAAAACAGACTCCTCAGAATTAGTCCAGGCGAGTCACTAAACAAACAAACATCAACAACAAGCTGAAAGCAAGGATCAGAAGTCAGAGTTGCTACAGTATATTATCTAAACTGTCTGGTTTTCAGCAAAAAGTTATGAGATATGCAACTATGAAAATGCAACTTATACAAAGGTGAAAAAGCAAGCAATATAAACTGTCTTTGAGGGGGCCCAAGTGTTGGTTCTTAGTGAGAAAGACTTCAAAGTAGTTGTTATAAATATACTGAAAGAACTAAAGGAAAATTCTTTCCTTTTAATGTTAAAGGAAATTATGATGGCAGTGACTAATTAAGTAGAGTATATCAATAAAGGGATCTAAATTATTAAAAGAATCAAATAGAAATTCTGGAGTTGAGGCTGGCCGTGGTTGGCTCATGCCTATAATCCCAGCACTTTGAGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATCAGCCAGGCATGGTGGCGCATGCCTGTAATCCCACCTACTCAGGAGGCTGAGGCTCAAGAATCACTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAACGCCGAGTGTTGTGGCATATGCCTGCCATCCCAGCTTCTCAGGAGGCTGAGTTAGGAGAATAGCTTGGACCCAGGAGGCAGAGGTTGCAGCAAGCCAAGATCGCATCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTTCATCTCAAAAAAAAAAAAAGAAATTCTGGAGTTGGAAAGTACAGTAGTAACAAAAAGTTCACAGACTAAATGGTAGATAAGAGCTGACATATGAACAAGAAAAATTAACAGTCTTGGGGACCTGTGGGACACCAGCACACGTATTAACATAAATGTAATGAAAGTTTCAGGAAAGGAAAGAAAGAGGTTGAAGATACATTTTAAGAAGTAGTAGCCAAAAACTCTCACGTTTGATGAAAAATATTAATCCACATTGTCCAAGAAGCTCAATGGACACTAAGTAGGATAAACACAAAGAAATCCATACCTAGTCACATTATAAACTGTTGAGAGACAAGGAATCATGAAAGCAGCAAGAAAGGATTCCTCACACGCGAAGGAACCACGGTAAGATTAACAGCTGACTTCTCTTGAAATCATAGAGGCTAGAAAGTTGTGGGATGACATATTAAAAGCACCAAAAGAAAATGTAAAAGCAGATTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAAGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCAAGCCTAAGTGACAGAGTGAGTCCCTGTCTCTTTAAAAACAAAGAAAATGTAAAAGCACCTGATTATTAGCAGGTATTAATGTCTTTTAATTGTTTGCTTGATATTAACCTTAATAAAGTTAAAATAATAACAGGAACATAAAGAAACTCTTTGTTTCTTTGTTGTATCTTCCCATATAGTTCTTTATATATGGAAATGTAAGAATTTTCTTTAAAGGAGATCAAAAAATTAAAACTTTCTAGTGAAAAGCTTAGGATTCAAAGTTAAAAGTCTTAAGAAAGAATTCTTGGTCTGGCCCAGGCCATCCCAGTGGCACATGCCTGTAGTCCTAGCTACTTGGGAGGCTGAAGCAGGAGGATCCCTTGATCCCAGGAGTTCCAGCCCAGCCTAGGCAACATAATGAGACCTTCATCTCTAAACATAAAAATAAAGAAAGAATCCATGCACTACCCTGATTTCCACAATGCTAATGAATTTCCAATTCTTTCAGAAAAATAATAAATAACCAGCAATCTAAAAGTCTATTTTCTGTTAAGAAGTGATAAAGCAGACTTTATTTATATAAGGAAAATTCAGATTGGATTGACTTTTAAAAAACTAAAGTATTTTGACAGGGTGCAGTGGCTCACGCTTGTAATTCCAGCACTTGGAAAGGCAGAGATGGGAGTATTGCTTGGTCCCAGGAGTTTGAGACCAACCTGGGCAATGTGGCAAAACCCTGTCTCTACCAAAAAAAAAAAAAATTAGCCAGCTGTGGTGGTGTGCACCTGTAGACCCAGCTACTCAGGAAGCTGAGGTGGGATGATTGCTTGAACCCAGGAGGCTGAGATTGCAATGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACAAGACCCTGTCTCAAAAACAAACAACAAAAACTAAAGTATTTTATTAAGATAATAGGTTAAAATTTTTAACATTTTTTATACTTGGAGTTTTCCAAGCCTTATTTCCATAGTCCCCAAATTGAACTATATCACTACAAATTAAGTGCCATCTGTTGTGATAGTTTACTACTATCACAATGGAGTTACATAACTCTTACCGATAATAGGAGTTATACAGTGTATAGTAAAAAAAATTCAGAGCAGGTGACTCCAACTATTTAGGCAGCAATCAGTACTTCCCTGTAGCTCCCCTTGTCCCCATCTGCAAGATAATATAAGTAAAGAAGCAATGAAATGTAGATGCTAGGGGCAGGAGTTCATAGTCGTATAATGTGAATCCTGGCCCCACTACTTACCAGCTCTCATGAACTGAATGTTTGTTTACCCCATCCCCAAATTGATATGTTGAAGCCCTACTCCCGTTGTTACTGTACTTGAAGATAGGGCATTTATGGAGGTAATTAAGGTTAGATAAAGGCGTAAGAGTGGGGCTCTGATCCAGTAGGGTTAGTGTCCTTAAGAGACAGGAGAGAGCTCTCTGTCTCTCTCTCTGCCGTATGAGGACACAGTGAGAAGATGGATGTCTGCATGCCAGAAAGAGGTTCCTCACGGGGAACCAAATTGGCTGGCACATTGATCTGGGATTGCTAGTCTCCAGAAATGTGAGAAAATAAATTTCTGTTGTTTAAGCCACTCCATTTATGGTATTTTAGTATGGCATCCTCAGATGACTAAAACACTAGCTGTGTGATGCTGGCAAGTTATTAAATCTCTCCAGGCCTCAGATTTCTCCTTCCTAAGATGGGATAATGCTGCCCACAAGATTGTGGGCAGTTGAATGGGATAGCATATGTAAAGGGCTGTGCCTAGCACAGTATCTAGCGTGCAGTACAGTTCCTAAACAAAGACTCTTGTTTGTTACTGCTTGTACTTTAGCATTTTATACTTAGGGTTTCCACTCTTCTCCAGATGTCTGTCTTGTGAAGTAGTGTGTAAAATCACAAAGCATGGATTTCAGCCCTCTTTCACTGGGCTGGAATAGGCCCCATCTCTAGCGAGTGAGCCGGTGGCAGCCTCACTTCCATGGCCCAACACAGCTTTGTTTCTCTCTGCTGATCACACAGGCAGAAATAACTCTTCTGAATTAACCAAAAAACAGTTTTTTGAAAAGTTAAAGTTCATGGTTAATGTTATATCATTCATAATGTAATATAATTTGATATAGGATGAGAGTGACCATATTACTTATTGTAACTGTATTATTCCTAAAAGTATAAGGTCATGTTTAACTGAAATTATATAATATTTTGACCCACAAATTGATTTTATTATATTGCTAGCCCTAGAAAAATTGTTTCATTCAAAAAACATTTTTAAAAATACGTTTTTAAATAAAACAACATGTGCACATTACAGCAAAATAAAAGTTATATCTTTATGCTAATCTTCTGAACATTAAGATTAATAAGCAGAATACTTAGTCTTGATATTTATTCATGCACTTTATTAGTCTCTTATTTATATCTGTATCTAATATTTTTCTGAAGAATATATAGATTTTTCAATATGGTCTTGTTTTTCTTTTTTTTTCTTTTTTTTTTCCAGACAGAGTCTTGCTCTCTCACCCCGGCTGGAGTGCAATGGCACAATCTGGGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTCTTTTTTCTTTTTTTTTTTTTAGCGACAGAGTCTTGCTCTGTTGCTCAGGCCAGAGTGCAGTGGTACAATGACAGCTCACTACAGCCTCAAGCTCCTGCCGTGCTTGGCTAATTTTTTTTATCTTTTGTAGAGATGAGGTCTTACCATGTTGGCCAGGCTGGTCTTGAATTGCTGGCTTCAAACGATCCTCCTGCCACAGCCTCCCAAAGCACTAGGATTATAGGCATGAGCCACTGCATCTAGCCCCTTACTTTTATTTTCTTCATAAAAGTGCCCACAATATGCTTCAGAGTTGCATATTATAATTAGTAAATTTGGAACAGCTGACATCTTCAATTGAGTGTCTGTAAACTACGTAAAAAATTGACAAAATACTCTAACAAATGCTGAAGTATCTGGTAAACTAAGAGCTAAATGGAAGAGAGTCAATTCCATTTTTGAAAGATTAAATTGTATAACTATTTCAGCTGAAATATTTTCACAGGTATTGTCTCTGCTTTTGTCCAGAGTGCCTTTCTTTGACAAGTTTGGTATAAGACAATACCTGTCAAAGCTGTCTCTATTTATGATTCTGTCTCTATTTATGATTCTTCTGAAAATTTTGCCAAGTTCAGTTACTTCAGAATCAAATCATTTCCAGTTAAAAATGGAATTCCATCCAAGATTCTTTTCCCAAAAAGAAACAGAAGACATGTGACCAGATGCAGTGGCTCATACTTGTAATCCCTGCACTCTTGAGAGGCCGAGACAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTGAAAATTCAAAAATTAGCCATGGTGGTGCGTGCCTGTGGTTCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTACTTAAACCCAGGAGGTGGAGGTTGCGGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAGCAGAGTGAGACTCCATCTCAAAAAAACACGAGGCCGGGCGCAGTGGCTTATGCCTGTAATCCCAGAACTTTGGAAAGCTGAGGCGGGCAAATCACCTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGTCTCAACCAAAACTACAAAAATTAGCCGGGCATGGTGGAGGGCACCTGTAGTTACTTGGGAAGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAACAAAAAACAAAAAACACCAAGCTGTTATTTGCAGAAGATGCATGTACTTAGAAAATCTAAGATAATTTACACACTATTAAGAAAACTAACACATGAATTTCACAGGGCATTAGATGTAATACAAGGTCAGTACACCATCAGTTACATTTCTATATACCAGCAATAAACAAAGACAAAGGTGACACTGCAGTGCAGACAAGGGTGGGGGGCAGGGGGTAGGTCTCTTCAGTAAATGATGCTGGGACAATAAAACATTTCTGTGAGGGGAAAATATATCAGAGCCCCTTATACCATTCACAAAAATCAATTTCAGATGGATAGCAGTTTATAAAATGTAAAACAGTAAAGCTTTTTTTTTTTTTTTGAGACAGAGTCTAGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCATCATACCCTGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCACGCTGGTCTCGATCTCTTGACCTCATGATCCACCCGCTTC	T	A67065643G	CBFB	NM_022845.3(CBFB):c.283-1039_400-7568del	noncoding	Pathogenic
16	67155510	AGCGCGGC	A	G67155515A	TRADD	NM_003789.4(TRADD):c.289_295del:p.Ala97fs	coding	Pathogenic
16	67169932	G	GT	C67169945T	HSF4	Single_allele	noncoding	Benign
16	67266113	TGAG	T	G67266129A	SLC9A5	NM_004594.3(SLC9A5):c.2107GAG[5]:p.Glu708del	coding	Pathogenic
16	67270788	TG	T	G67270789T	SLC9A5	NM_004594.3(SLC9A5):c.2270del:p.Cys757fs	coding	Pathogenic
16	67270794	GAAA	G	A67270796G	SLC9A5	NM_004594.3(SLC9A5):c.2277_2279del:p.Lys760del	coding	Pathogenic
16	67270806	C	CTTT	C67270807T	SLC9A5	NM_004594.3(SLC9A5):c.2287_2288insTTT:p.Pro763delinsLeuSer	coding	Pathogenic
16	67270809	T	TGCACAGGTTGGGGAGGGG	G67270811C	SLC9A5	NM_004594.3(SLC9A5):c.2291_2292insCACAGGTTGGGGAGGGGG:p.Trp764delinsCysThrGlyTrpGlyGlyGly	coding	Pathogenic
16	67436801	AC	A	C67436805G	HSD11B2	NM_000196.4(HSD11B2):c.1020del:p.Gly341fs	coding	Pathogenic
16	67610660	GGTT	G	G67610664T	CTCF	NM_006565.4(CTCF):c.-9-160_-9-158del	noncoding	Benign
16	67610978	A	AG	T67610981G	CTCF	NM_006565.4(CTCF):c.148dup:p.Val50fs	coding	Pathogenic
16	67611122	CTT	C	T67611124A	CTCF	NM_006565.4(CTCF):c.292_293del:p.Leu98fs	coding	Pathogenic
16	67611160	A	AT	A67611162T	CTCF	NM_006565.4(CTCF):c.329dup:p.Gly111fs	coding	Pathogenic
16	67611518	AG	A	G67611520A	CTCF	NM_006565.4(CTCF):c.688del:p.Glu230fs	coding	Pathogenic
16	67611969	AGT	A	T67611973A	CTCF	NM_006565.4(CTCF):c.804_805del:p.Cys268_Glu269delinsTer	coding	Pathogenic
16	67612109	A	AAC	G67612121C	CTCF	NM_006565.4(CTCF):c.950_951dup:p.Gly318fs	coding	Pathogenic/Likely_pathogenic
16	67621453	TATGA	T	A67621457T	CTCF	NM_006565.4(CTCF):c.1223_1226del:p.Glu408fs	coding	Pathogenic
16	67626452	C	CA	G67626474A	CTCF	NM_006565.4(CTCF):c.1358-82dup	noncoding	Benign
16	67628430	C	CA	C67628432A	CTCF	NM_006565.4(CTCF):c.1580dup:p.His527fs	coding	Pathogenic
16	67636569	G	GTA	T67636591A	CTCF	NM_006565.4(CTCF):c.1838-120TA[11]	noncoding	Benign
16	67636569	G	GTATATATATA	T67636591A	CTCF	NM_006565.4(CTCF):c.1838-120TA[15]	noncoding	Benign
16	67646267	GTGGC	G	G67646270C	CARMIL2	NM_001013838.3(CARMIL2):c.334_337del:p.Ala112fs	coding	Pathogenic
16	67647689	CA	C	A67647690C	CARMIL2	NM_001013838.3(CARMIL2):c.882del:p.Leu295fs	coding	Pathogenic/Likely_pathogenic
16	67647695	GCAGACACCTC	TGTTGTCCTG	G67647695T	CARMIL2	NM_001013838.3(CARMIL2):c.887_897delinsTGTTGTCCTG:p.Ser296fs	coding	Pathogenic
16	67648514	A	AC	G67648519C	CARMIL2	NM_001013838.3(CARMIL2):c.1439+16dup	noncoding	Benign
16	67652328	GAGA	G	A67652331G	CARMIL2	NM_001013838.3(CARMIL2):c.2809_2811del:p.Lys937del	coding	Benign
16	67654140	G	GC	A67654147C	CARMIL2	NM_001013838.3(CARMIL2):c.3121-3dup	noncoding	Benign
16	67654707	T	TG	T67654714G	CARMIL2	NM_001013838.3(CARMIL2):c.3582+21dup	noncoding	Benign
16	67654842	T	TGCTGCAGAGGATAG	G67654859T	CARMIL2	NM_001013838.3(CARMIL2):c.3650_3663dup:p.Val1222delinsCysArgGlyTer	coding	Pathogenic
16	67656870	AG	A	G67656872C	CARMIL2	NM_001013838.3(CARMIL2):c.4108del:p.Ala1370fs	coding	Pathogenic
16	67658643	T	TG	T67658650G	ACD	NM_001082486.2(ACD):c.743-3dup	noncoding	Benign
16	67659588	TC	T	C67659590A	ACD	NM_001082486.2(ACD):c.361del:p.Asp121fs	coding	Pathogenic
16	67659788	TCTC	T	T67659793C	ACD	NM_001082486.2(ACD):c.244GAG[1]:p.Glu83del	coding	Pathogenic
16	67660954	G	GGCGGC	G67660964C	ACD	Single_allele	noncoding	Benign
16	67842902	A	ACAGCAGCAGCAGCAGCAACAGCAGCAG	G67842947A	THAP11	NM_020457.3(THAP11):c.366_392dup:p.Gln124_Gln132dup	coding	Benign
16	67842902	ACAGCAGCAGCAGCAGCAACAG	A	A67842920G	THAP11	NM_020457.3(THAP11):c.366_386del:p.Gln126_Gln132del	coding	Benign
16	67842902	ACAGCAGCAGCAGCAGCAACAGCAG	A	A67842920G	THAP11	NM_020457.3(THAP11):c.366_389del:p.Gln125_Gln132del	coding	Benign
16	67940388	CGA	C	A67940392G	LCAT	NM_000229.2(LCAT):c.837_838del:p.Arg280fs	coding	Pathogenic
16	67944000	C	CG	A67944007G	LCAT	NM_000229.2(LCAT):c.101dup:p.His35fs	coding	Pathogenic
16	68339438	GC	G	C68339439A	PRMT7	NM_019023.5(PRMT7):c.622del:p.Gln208fs	coding	Pathogenic
16	68347689	ATTG	A	T68347696C	PRMT7	NM_019023.5(PRMT7):c.1323+12TTG[2]	noncoding	Benign
16	68645706	A	AG	C68645709G	CDH3	NM_001793.6(CDH3):c.118dup:p.Ala40fs	coding	Pathogenic
16	68677926	CT	C	T68677940A	CDH3	NM_001793.6(CDH3):c.247-194del	noncoding	Benign
16	68678878	A	AGG	A68678882G	CDH3	NM_001793.6(CDH3):c.665_666dup:p.Ser223fs	coding	Pathogenic
16	68679918	AC	A	C68679920A	CDH3	NM_001793.6(CDH3):c.813del:p.Ile272fs	coding	Pathogenic
16	68691754	GAA	G	A68691755G	CDH3	NM_001793.6(CDH3):c.1831_1832del:p.Lys611fs	coding	Pathogenic
16	68691759	A	AG	A68691762G	CDH3	NM_001793.6(CDH3):c.1837dup:p.Asp613fs	coding	Pathogenic
16	68691772	CGT	C	T68691774C	CDH3	NM_001793.6(CDH3):c.1850_1851del:p.Val617fs	coding	Pathogenic
16	68695393	ACTGGGGGCT	A	G68695399A	CDH3	NM_001793.6(CDH3):c.2133+14_2133+22del	noncoding	Benign
16	68737445	GC	G	C68737446T	CDH1	NM_004360.5(CDH1):c.31del:p.Leu11fs	coding	Pathogenic
16	68737514	G	GCGCCCCAGCCC	T68737526C	CDH1	NM_004360.5(CDH1):c.48+52_48+62dup	noncoding	Benign
16	68737515	C	CGCCCCAGCCCCGT	T68737526C	CDH1	NM_004360.5(CDH1):c.48+62_48+63insCGTGCCCCAGCCC	noncoding	Benign
16	68737521	A	AGCCCCGTGCCCCAGCCCTGC	T68737526C	CDH1	NM_004360.5(CDH1):c.48+62_48+63insCGTGCCCCAGCCCTGCGCCC	noncoding	Benign
16	68738284	T	TC	A68738290C	CDH1	NM_004360.5(CDH1):c.49-8dup	noncoding	Benign/Likely_benign
16	68738306	TG	T	G68738308C	CDH1	NM_004360.5(CDH1):c.60del:p.Trp20fs	coding	Pathogenic
16	68738388	AGAGAGGCCGCGTCCT	CGA	A68738388C	CDH1	NM_004360.5(CDH1):c.140_155delinsCGA:p.Glu47fs	coding	Pathogenic
16	68738395	C	CCG	T68738400C	CDH1	NM_004360.5(CDH1):c.150_151dup:p.Val51fs	coding	Pathogenic
16	68801707	CT	C	T68801708A	CDH1	NM_004360.5(CDH1):c.202del:p.Tyr68fs	coding	Pathogenic
16	68801765	AG	A	G68801767C	CDH1	NM_004360.5(CDH1):c.261del:p.Arg87fs	coding	Pathogenic
16	68801819	TC	T	C68801821A	CDH1	NM_004360.5(CDH1):c.315del:p.Thr106fs	coding	Pathogenic
16	68801852	C	CTGAA	A68801858G	CDH1	NM_004360.5(CDH1):c.348_351dup:p.Thr118fs	coding	Pathogenic
16	68801874	A	ACCGCCCC	A68801889C	CDH1	NM_004360.5(CDH1):c.376_382dup:p.His128fs	coding	Pathogenic
16	68808470	CCT	C	T68808474C	CDH1	NM_004360.5(CDH1):c.438_439del:p.Pro147fs	coding	Pathogenic
16	68808486	AAGACAGAAGAG	A	A68808491T	CDH1	NM_004360.5(CDH1):c.455_465del:p.Gln152fs	coding	Pathogenic
16	68808491	AG	A	G68808492A	CDH1	NM_004360.5(CDH1):c.456del:p.Lys153fs	coding	Pathogenic
16	68808492	GAAGA	G	A68808493G	CDH1	NM_004360.5(CDH1):c.457_460del:p.Lys153fs	coding	Pathogenic
16	68808493	AAG	A	G68808499C	CDH1	NM_004360.5(CDH1):c.463_464del:p.Asp155fs	coding	Pathogenic
16	68808513	TC	T	C68808516A	CDH1	NM_004360.5(CDH1):c.480del:p.Ile161fs	coding	Pathogenic
16	68808585	CT	C	T68808586G	CDH1	NM_004360.5(CDH1):c.531+19del	noncoding	Benign
16	68808695	CA	C	A68808698T	CDH1	NM_004360.5(CDH1):c.537del:p.Lys179fs	coding	Pathogenic
16	68808710	CAAAG	C	A68808713G	CDH1	NM_004360.5(CDH1):c.552_555del:p.Glu185fs	coding	Pathogenic
16	68808714	GA	G	A68808716G	CDH1	NM_004360.5(CDH1):c.555del:p.Gly186fs	coding	Pathogenic
16	68808755	C	CT	A68808756T	CDH1	NM_004360.5(CDH1):c.594_595insT:p.Thr199fs	coding	Pathogenic
16	68808758	AC	A	C68808763T	CDH1	NM_004360.5(CDH1):c.602del:p.Pro201fs	coding	Pathogenic
16	68808776	T	TATTATTG	A68808785T	CDH1	NM_004360.5(CDH1):c.617_623dup:p.Glu208delinsAspTyrTer	coding	Pathogenic
16	68810200	TTC	T	T68810205A	CDH1	NM_004360.5(CDH1):c.696_697del:p.His233fs	coding	Pathogenic
16	68810312	AG	A	G68810316T	CDH1	NM_004360.5(CDH1):c.807del:p.Ser270fs	coding	Pathogenic
16	68810566	A	AT	A68810581T	CDH1	NM_004360.5(CDH1):c.832+239dup	noncoding	Benign
16	68810566	AT	A	T68810580A	CDH1	NM_004360.5(CDH1):c.832+239del	noncoding	Benign
16	68811733	C	CA	C68811735A	CDH1	NM_004360.5(CDH1):c.883dup:p.Thr295fs	coding	Pathogenic
16	68811734	AC	A	C68811736T	CDH1	NM_004360.5(CDH1):c.885del:p.Tyr296fs	coding	Pathogenic
16	68811757	CA	C	A68811758C	CDH1	NM_004360.5(CDH1):c.907del:p.Thr303fs	coding	Pathogenic
16	68811783	TC	T	C68811786T	CDH1	NM_004360.5(CDH1):c.935del:p.Pro312fs	coding	Pathogenic
16	68811790	CAA	C	A68811794T	CDH1	NM_004360.5(CDH1):c.943_944del:p.Asn315fs	coding	Pathogenic
16	68811838	C	CA	C68811840A	CDH1	NM_004360.5(CDH1):c.988dup:p.Thr330fs	coding	Pathogenic
16	68811852	A	AC	G68811855C	CDH1	NM_004360.5(CDH1):c.1003dup:p.Arg335fs	coding	Pathogenic
16	68811863	A	AG	T68811868G	CDH1	NM_004360.5(CDH1):c.1008+8dup	noncoding	Benign
16	68811990	T	TA	G68811991A	CDH1	NM_004360.5(CDH1):c.1008+131_1008+132insA	noncoding	Benign
16	68811991	G	GA	T68811992A	CDH1	NM_004360.5(CDH1):c.1008+132_1008+133insA	noncoding	Benign
16	68812155	G	GGT	G68812159T	CDH1	NM_004360.5(CDH1):c.1031_1032dup:p.Val345fs	coding	Pathogenic
16	68812256	CCA	C	A68812258C	CDH1	NM_004360.5(CDH1):c.1132_1133del:p.Thr378fs	coding	Pathogenic
16	68813317	AG	A	G68813320T	CDH1	NM_004360.5(CDH1):c.1145del:p.Gly382fs	coding	Pathogenic/Likely_pathogenic
16	68813344	AC	A	C68813345G	CDH1	NM_004360.5(CDH1):c.1170del:p.Asn390fs	coding	Pathogenic
16	68813382	G	GCC	A68813388C	CDH1	NM_004360.5(CDH1):c.1211_1212dup:p.Asn405fs	coding	Pathogenic
16	68813383	CCCCCAATA	C	A68813389G	CDH1	NM_004360.5(CDH1):c.1214_1221del:p.Asn405fs	coding	Pathogenic
16	68813389	AT	A	T68813390A	CDH1	NM_004360.5(CDH1):c.1215del:p.Asn405fs	coding	Pathogenic/Likely_pathogenic
16	68813478	AT	A	T68813482G	CDH1	NM_004360.5(CDH1):c.1307del:p.Ile435_Leu436insTer	coding	Pathogenic
16	68813483	GA	G	A68813487C	CDH1	NM_004360.5(CDH1):c.1312del:p.Thr438fs	coding	Pathogenic
16	68815513	AG	A	G68815516C	CDH1	NC_000016.9:g.68849417del	noncoding	Pathogenic
16	68815534	AG	A	G68815535C	CDH1	NM_004360.5(CDH1):c.1341del:p.Lys447fs	coding	Pathogenic
16	68815540	AGTACATTCTACAC	A	C68815544G	CDH1	NM_004360.5(CDH1):c.1350_1362del:p.Gln449_Tyr450insTer	coding	Pathogenic
16	68815547	TCTAC	T	C68815548A	CDH1	NM_004360.5(CDH1):c.1354_1357del:p.Leu452fs	coding	Pathogenic
16	68815549	TACACGTA	T	A68815550G	CDH1	NM_004360.5(CDH1):c.1356_1362del:p.His453fs	coding	Pathogenic
16	68815576	C	CT	G68815581T	CDH1	NM_004360.5(CDH1):c.1386dup:p.Glu463Ter	coding	Pathogenic
16	68815582	AG	A	G68815584T	CDH1	NM_004360.5(CDH1):c.1390del:p.Val464fs	coding	Pathogenic
16	68815593	A	AC	A68815596C	CDH1	NM_004360.5(CDH1):c.1401dup:p.Thr468fs	coding	Pathogenic
16	68815636	AT	A	T68815637G	CDH1	NM_004360.5(CDH1):c.1443del:p.Asn481fs	coding	Pathogenic
16	68815651	TTG	T	T68815654C	CDH1	NM_004360.5(CDH1):c.1460_1461del:p.Val487fs	coding	Pathogenic
16	68815694	CG	A	C68815694A	CDH1	NM_004360.5(CDH1):c.1500_1501delinsA:p.Val501fs	coding	Pathogenic
16	68815743	ATGGAACAGAAAATAACGTAAGTGTGAGGATTTTTCAACTGACTTGCAGCAAC	A	A68815747T	CDH1	NM_004360.5(CDH1):c.1553_1565+39del	coding	Pathogenic/Likely_pathogenic
16	68815755	AT	A	T68815756A	CDH1	NM_004360.5(CDH1):c.1562del:p.Ile521fs	coding	Pathogenic
16	68819329	AC	A	C68819330T	CDH1	NM_004360.5(CDH1):c.1616del:p.Thr539fs	coding	Pathogenic
16	68819354	AG	A	G68819355C	CDH1	NM_004360.5(CDH1):c.1641del:p.Glu547fs	coding	Pathogenic
16	68819395	T	TA	C68819397A	CDH1	NM_004360.5(CDH1):c.1682dup:p.Tyr561Ter	coding	Pathogenic
16	68819402	C	CA	C68819403A	CDH1	NM_004360.5(CDH1):c.1688_1689insA:p.Leu564fs	coding	Pathogenic
16	68819409	C	CTT	A68819410T	CDH1	NM_004360.5(CDH1):c.1695_1696insTT:p.Ile566fs	coding	Pathogenic
16	68819424	T	TG	T68819427G	CDH1	NM_004360.5(CDH1):c.1711+1dup	coding	Pathogenic
16	68822136	ATGCAGACC	A	G68822138T	CDH1	NM_004360.5(CDH1):c.1849_1856del:p.Ala617fs	coding	Pathogenic
16	68822166	TCACAGCAG	T	C68822167A	CDH1	NM_004360.5(CDH1):c.1878_1885del:p.Phe626fs	coding	Pathogenic
16	68822174	GAACT	G	T68822178A	CDH1	NM_004360.5(CDH1):c.1889_1892del:p.Leu630fs	coding	Pathogenic
16	68822205	CCA	C	C68822206T	CDH1	NM_004360.5(CDH1):c.1917_1918del:p.Ile640fs	coding	Pathogenic
16	68822207	A	AT	C68822210T	CDH1	NM_004360.5(CDH1):c.1920dup:p.Gln641fs	coding	Pathogenic
16	68823237	CA	C	A68823255G	CDH1	NM_004360.5(CDH1):c.1937-144del	noncoding	Benign
16	68823413	AT	A	T68823417G	CDH1	NM_004360.5(CDH1):c.1955del:p.Ile651_Leu652insTer	coding	Pathogenic
16	68823489	A	AC	A68823492C	CDH1	NM_004360.5(CDH1):c.2029dup:p.Gln677fs	coding	Pathogenic
16	68823493	A	AGTGACCACCTTAGAGGTCAGCGTGT	T68823524C	CDH1	NM_004360.5(CDH1):c.2037_2061dup:p.Cys688delinsHisLeuArgGlyGlnArgValTer	coding	Pathogenic
16	68823514	CGTGT	C	T68823518A	CDH1	NM_004360.5(CDH1):c.2056_2059del:p.Cys686fs	coding	Pathogenic
16	68823515	G	GT	G68823517T	CDH1	NM_004360.5(CDH1):c.2054dup:p.Cys686fs	coding	Pathogenic
16	68823537	CTG	C	T68823538G	CDH1	NM_004360.5(CDH1):c.2076_2077del:p.Gly693fs	coding	Pathogenic
16	68823597	G	GGATTCTTGGA	G68823609A	CDH1	NM_004360.5(CDH1):c.2137_2146dup:p.Gly716fs	coding	Pathogenic
16	68823616	T	TG	C68823618G	CDH1	NM_004360.5(CDH1):c.2155dup:p.Ala719fs	coding	Pathogenic
16	68823629	AAGTCCAGCTGGCAAGTGACTCAGCCTTTGACTTAAAAAAATGGAGGAGGTTTATTTCCTGGAAATGATTTTTGTTCTTATATTAATAAGGATATAGGTTAGCTGATGTGGGAAAGAGACTCCCAAGTTATGCCAGCCTCCATAAAATAGAAGTTTGTCTCTTACTGAACATTTCAGAGGTAAATGGTCTAAGATGGGAAGGCCATGAAGTCAACAGGGGACCCAGGTTTCTTCTACCTTGTCTCTTTTCATTCTTCAAGACAGTGCATCCCAAGCTTGAGAGCATACAAATCATCTGGGCCTCTTTTTGAACTGGGAAATCTGATCCAGGAGGTCTGGCATAGGGCCACAGATTCTGCATTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCGAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCACCCTCTGCTTAACAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTATGGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTCAGTAGAGACGGTGTTTCTCCATTTTGGTTAGGCTGGTCTCAGACTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCACCCGGCCAGATTCTACATTTCTAACCAGCTCCCAGGCGGTACTGATGTTGCAGTTCCTTAGACCATAGGCAGAGTAGCAAGACCTTGGGGGCTGCCCTCATCAGCGTGGTCTAAGCTAGCCAGCTCACCACCACCACCTCTACATTCCATCCTAGATTGGGGAAGGGGATAACAGAGGAAGTGGAGGCCAAACGACTGGAAGTTGCATATATCACCTCCACTTATATACCATTGGCCCAAACACAGCCACATCTAGCTGCAAGGGAACCTGGAAGCTTCTACTTACAATTGAAAATTGACATGGAGTAGGGGTGGAGTGTAGGGTGAGCAGTGAGTGTCAATGACTAAAAGGATAAAGGAGAAAAAGGATGCTGAGGAAAATTGGCAGTTTCTGCCATAGTCCTTAAACCTGTTTCCATTGGAGCCCACCTGGAGTGAGCCCTAGGGGTGACACAGGAGCTGTTATGGTCAAGGTAAATACTTTTATCATTTACACACAGGGAGAAAGTACTGAATCTATTAAAGGAATAAATTAGCGATGAAAACAGACTATGTGCATCAAAAGACAAAGTATCCATATGGAGGAGTGCACTACATCAGAACTCTGGTAGGGCTTTAAACATGTGAATGATGGAAGAGCAAGCAAATGATTATCACAGCAAATGAGAGCAAGTCAATTAGAAACCTTTGACCTGGTATGGTGGCTCACTCTTTGGGAGACCAGGGTGGGAGGATTGCTTGAAGCCAGGAGTTTGACACCAGCCTGGGCAACAAAGCAAGACTGTCTCTACAAAATAAAAATAAAAAATACATTTTTTTATTAAAAAAAATTTTTTAAAAGAAATGTTTAAAGATCATATATAATTAGTGACTGCAAGGGGTGGTCCAGCTCATGAATGCCTTTGTAGTCAGGGTAGTCAGAAAAGGCTGTTAATTGAGTCTCAAGGACAGTTTTGTGGAAGATGTAAGTGGTTAGGCCACAGGGGCTGGTAGAATTCCAACAGGCAGATGGGTATTTAGGAAGGTTCCCCTCCTAGCAAAGCACAGCAGAGGCTTGAGGAGACTCCTAGAAGAGCAGAGACCAGGCCAAGCTGGTGGGAATGGAAAAAGAATTTTGGAGGGAGCAGTGGGACCAAATCTAGGGTTTTCAATTTAGATTGAGCATGGGTGCCATTGATCCTGCTGCTGCTGCCTCAGTGGACTCCAGGAGAGGGTGCCTTTCAACCTTCCAGAAATGTCTGCTGGGCATCCCATTTGCTTCTGCCCCCTCCTGGTGTCCTCCCAAAGTTGAAGAAAAGGATAGTGCTGTTGAGAATTGAGCAAGCCTTCTGGACTTTCATCCTGCCAGGCTTTACATGGCTTTATTGTGCCATGAGATTAGGTTAATTCATCATTGCCTTGGGCAGGGTAACACAAGCCCTGCCTGCCCACTTCCTAGTCAAATTACATTTCAGTGGCCTGGTCTGCTTTTGGTATAGTGGTTACTGACCAGTACATTCATTCTAAAGGGAATCTTTTTTTTTTTTTTTTTTTTTTTTTAGGCAAGTTCTCATTCTGTGGGCCCGGCTGGAGTGCAGTGGAGTGATCTCAGATCTCAGGTCACTGCAGCCTTGACTTCCGGGGCTCAGGCAATCCTCCCACCTCAGACCCCTGGGTGGCTGGGACCACAGGCATGAGCCACCACACCCAGCTAATTTTTTAATATTTTTTTGTAGAAACAGTGTTTCCTTATGTTGCCCAGGCTGGTCTCAAACTCCTGGTCTCAACCAGTCCTCCCACCTTGGCCTTCCAAAGTGTTGGGATTATAGGCATGAGCCACTGTGCCCAGCCAGGGAATCTTAAAGATTGTAGTTATACTTGAAATATTTTTTTTTTAAATAGGATTACCTAAATTTGCTATGGGTATGTATTTTTTTAGACACTGGGGGTGGGGATTCCCATGTAGAGCAACATTTAAAACAGAGGCAATGCCAGAGTTCAGATGTTCAATTTCAATTTCTTGTATTTTTAACTTCTATGATTATTTTTTCTTTCTTTATTAGAGATGGGTTCTCACTATGTTACTCACATTGGTCTCAAACTCTTGAGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTCCTCCGGCCAATTTCTTGTTTCTTAAGGGCACAAATGTGCTAGAGGCTGGGCACGGTGGCTCACATCTATAATCTCAACACTTTGGGAGGCTGAGGTGGCAGGATTGCTTGAACCTAGGTTTCAAGATCAGCCTAGGCAACATAGCAAGATCCCATCTCTATTAAAAAAAATTACTAGAGAGACACCAGGAGATCTGAAGCTTTTCATGTTTTCCGCCAATGTTTGATTGCTTACTCTGTGCCAGGCTTTTTCTCAGAGCCTGCGGATACTGGGCTTCTGGCACAGCTGATAAGAGGGGTCATTTTGGAAACGGTAAACTGCCTCTTGCTTTGCATGGATGGGGACTGTGTAGCTCCTATAGTCTTGTTCAGTGCTGTCTCCCTGTGCAGCCAATTCAGTGTTCTTGTTGATGAATCATGGACAAGGGAGTTATGCTGTTTATCTGGATAAGGTTTCTGGCATTTTTCTGGTTTTAGAAATAGGTAGTTGAGGTACATCTGAGAAATCTTTTCCCCAAGTTTATGCAACCTCCTGTTTAAAGATTATGCTTCGGCCGGGCGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCTTGTAGTCCTACCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGTGGTTTCAGTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAATAATAATAAATAAATAAATAAATAAAGATTATGCTTCATAGGGTACAGTATATAGGTACTTGGGCACCCATGGATAGAAAACACATGGAATCTTTTTTTTTTTCATTCACAGTGAATAATATATGTATTTTCTAAGTTAAGTGGTTTCTTTCTGGCTGCTTTAGAGATTTTTTTTTTAAAGTTAAATGTTAATTGTGTATATCCTAGAAATAATCCCAAGATCAAATGTAACCCTTGTGTTAAGCCTTGGAAGTTAAATAGATTTTAAAGCTTGCTTACATGATTCTATCTTAAGAGAAAATAAGAACATACCAGGCAATTTTATAGTCTCTGTCCCACTCCCCATAGCTGGTTATGTATCAATCACATTTGGGCTAACCTAGGAGCCCTGCTCACAAACCTTCAATGGCTCCAACTCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCACGTGGATTGACATCTTCAAGTGTATTGAAGGCAGCTAGTGGCTGTCTAACTGCCCCCTGTCTGGTATGAGGGGTGCTCTGTGATAGCTGCTGCTTCTGGCCTTCTTTATCTTTGGCTCTCAACACTTGCTCTGTCTCCCCCACCATCCCAGTTCTGATTCTGCTGCTCTTGCTGTTTCTTCGGAGGAGAGCGGTGGTCAAAGAGCCCTTACTGCCCCCAGAGGATGACACCCGGGACAACGTTTATTACTATGATGAAGAAGGAGGCGGAGAAGAGGACCAGGTGGGTTTTGAAAACCTTGGTAGCTCAGTGGTGATCTCTTTATTCGGAAGAAGCAATGATTAGTAAGAGGTAGGCATTTGAAACAGCTCTGAATCACTTTGGATATTATCTTTTTAAGGCCTTACCCAAGAAAGTAGACATTGTCATTGACCATCATCATCATCACATCATCACCAACACAGCTAACATTTATTGATCGCATACTGTTCTGCACCTCAGTGAGCGAGCTGAGGCACAGAGAAGCTCAGTAACTTGGCTAAGGTCACACAGCTAGGAAGCGACAGGGCTAAATGGTCTGTCTCAGAGCCTGCCTTCCTCATTGCCATTCTCTGGACGTGAACTTCAGCCAGATTCTCTTTGACATAGAACAACTGGTCTGCTTTGTTTCTTTTGAGTTTTTAGCTAGACCAAACTCCTTTTCTGTCATGGTTATACCTTCAGTCCCTCTGTATTTCCTGATTTTGGAGATGATCTTAACATCTTACCCTGGAGTTGTCCAGGGAACTGTTCAGTGTCTTGGAGAGCCTACTTATTATAGAAAGGGATCCATGGGGGTCTATTACAGAGTCCTGTTTTTGACTGAGGCCACAGAGTGAGGCACAATTTACTGAGCTCCATACAACATAGGGAGGTGGGTGTACAGAGAAAAATATTGTTCTAGATTTCAGGGACTTGTAAGTCTAGTTTGGGGATACCACGTATATTGTATCAGTGAGCAATAGAGCAACCAATCGTGGAATCTCAGCGGCACACAACATGCGTATCTTTCTCATGTACCGTGGGGTAGCTGGAGCAACTGCTGGTCTCATCTAAGCTCATGAGAATCTGTAGGATGGCTGGGGCTCAGCAGATTTAGGCAGAGTTTAGCTGAATGGCTCTAACCTGTGAATTGTGTCCAGGTCTGTTCCATGCAAGTCTCATCTTTGTACCAGAAGCTGGTGCCTTTCAGACCTTTGCCTGTGTCATATGTTACTGTCCCATTGGCTAAGCAAGTCACACAACAAAGCCCCAGATCGATGGATGTATACTTTTCTCACAAGCTGGGGTTGGGAGGGAGTGAATATTTGCCAAACAGTGATCTAATCATCATGTCCTATGAAAATTAGTAAGGCACACAGCCTATATCTGGATCCACACATGCTACTCACAATCCTTTGGGCCATGTTTTTTTCCAGTGCTATTTGGGAGACTTTTAGCTTGAAAACTGTCATTTTGCATTAAACTGGTAAAGATCATACAGTTGGCAGTGAAGGCATCATCCAACCATAATCTATAAACTGAACATAGCCCTGTGTGTATGACTATTTCTTTCCTACTCTTCATTGTACTTCAACCTTTTTTCTCCAAAGGACTTTGACTTGAGCCAGCTGCACAGGGGCCTGGACGCTCGGCCTGAAGTGACTCGTAACGACGTTGCACCAACCCTCATGAGTGTCCCCCGGTATCTTCCCCGCCCTGCCAATCCCGATGAAATTGGAAATTTTATTGATGAAGTAAGTAATCCACGTGGAAAGCCAAAGCATGGCTCATCTCTAAGCTCAGGAGGAGTTGTGTCAAAAATGAGAAAAAGAGTCTTTAGATTCTTTCCTTTACTATGTTTTCAGCTTGCCTGAGCCCTGGAGCCCTGTTTTCCTTTTTCTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACGAAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTTTGCTCACCACAACCTCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACTCAGCTAATTTTGTATTTTTAATAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCTGACTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCAGCCTGTTTTTCTTAATCTGTGTCTCATCTGAATTTTGGATCTAATCGTGCTTCAAATTGCAAAGTCCATGTGGCAAAACCAACAATTGCCTGAAAGGATTTAGTAGATCTAGAAATGAAACTAGGAAGATTCTAAGTAAATTTCATTTTAGTTTCACTAATGGAATTTACTTCCCTTGCCTCCCACTGCTGGTTGGGATATAATGATAAATGTACATGACAAGCCTACCTGAGGATTAGAAAAATAGAATCTGTATTGTATATGTCAGAAATGCATTCAGCTCTAAATACAAGATGCTGAAACAGATGGGAGTAGATTTATCTTATACAAATAGAAAGTTGGGGTGAGCAGTCTAGGCCAGTGCATCAGGCTGTTCCATGTTTCTGCTCCATCATCTTAGCACGTAGACCCTTCTTCTCAGGCTTGTTGTCTCATGATCACAAGATGGCTGCCACACTTCCAGATCTTAAGTCTGTATTCCAGTCAGGAAAAAGTATGAAGAACAAAGC	A	T68823632A	CDH1	NM_004360.5(CDH1):c.2164+6_2439+966del	noncoding	Pathogenic
16	68828169	CCCAGTTCTGATTCTGCTGCTCTTGCTGTTTCTTCGGAGGAGAGCGGTGGTCAAAGAGCCCTTACTGCCCCCAGAGGATGACACCCGGGACAACGTTTATTACTATGATGAAGAAGGAGGCGGAGAAGAGGA	C	T68828174G	CDH1	Single_allele	noncoding	Pathogenic
16	68828197	TT	CTCCTCC	T68828197C	CDH1	NM_004360.5(CDH1):c.2188_2189delinsCTCCTCC:p.Phe730fs	coding	Pathogenic
16	68828261	AC	A	C68828262G	CDH1	NM_004360.5(CDH1):c.2253del:p.Asn751fs	coding	Pathogenic
16	68829652	AG	A	G68829654A	CDH1	NC_000016.9:g.68863556del	noncoding	Pathogenic
16	68829678	AG	A	G68829682C	CDH1	NM_004360.5(CDH1):c.2324del:p.Gly775fs	coding	Pathogenic
16	68829680	GGGCCTGGACGCTC	G	G68829687A	CDH1	NM_004360.5(CDH1):c.2329_2341del:p.Asp777fs	coding	Pathogenic
16	68829944	TTTTTTTTTCTTTTTC	T	C68829953T	CDH1	NM_004360.5(CDH1):c.2439+156_2439+170del	noncoding	Benign
16	68829958	TC	T	C68829959T	CDH1	NM_004360.5(CDH1):c.2439+162del	noncoding	Benign
16	68832894	TTAAGCATTTGGCATTTATCCTTCCAGGCCTTTCTGGGTGGAAATGCAGCCTGCATGCACCAGTATGCAAAGCTTCCAGCTCTGCCCATCCCAGCTGGTGGTGTGGCAGCCCCACTCTGATCTATGGGGACTCCATCCTGACTGGTTGGTGCTTGCATCTCTCCTGCCTACATATAACTCACCATTTCACTTTCTCTTTCCATCAACAACATATCCTGTGCTTCTGCATCCTTCCATGACAGTGTGTATAAATGTACGTTGTTGGTGTTCACTGCTCCGTGGTGTGCCACAAGTCTGGGTGCATTGTCGTACCTTACATATTGCTAGACTTCTTGCCCCAGATGACAGGTGTGCCCTTCCTTTCACTAAAAGATGCTTTTGTCCCTTCTTCTTTAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGACTAGGGGACTCGAGAGAGGCGGGCCCCAGACCCATGTGCTGGGAAATGCAGAAATCACGTTGCTGGTGGTTTTTCAGCTCCCTTCCCTTGAGATGAGTTTCTGGGGAAAAAAAAGAGACTGGTTAGTGATGCAGTTAGTATAGCTTTATACTCTCTCCACTTTATAGCTCTAATAAGTTTGTGTTAGAAAAGTTTCGACTTATTTCTTAAAGCTTTTTTTTTTTTCCC	GGA	T68832894G	CDH1	NM_004360.5(CDH1):c.2440-396_*224delinsGGA	noncoding	Pathogenic
16	68833287	TAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGACTAGG	T	A68833288G	CDH1	NM_004360.5(CDH1):c.2440-2_*1del	noncoding	Pathogenic
16	68833320	G	GC	G68833325C	CDH1	NM_004360.5(CDH1):c.2474dup:p.Pro826fs	coding	Pathogenic/Likely_pathogenic
16	69332739	TGGAAAAA	T	A69332743C	COG8	NM_032382.5(COG8):c.1550_1556del:p.Leu517fs	coding	Pathogenic
16	69334562	CCAGGGCCA	C	C69334569A	COG8	NM_032382.5(COG8):c.1364_1371del:p.Val455fs	coding	Pathogenic
16	69356799	C	CA	G69356816A	TERF2	NM_005652.5(TERF2):c.*98dup	noncoding	Benign
16	69653436	CTTTA	C	T69653442C	NFAT5	NM_138713.4(NFAT5):c.1005+14_1005+17del	noncoding	Benign
16	69659709	A	AT	C69659718T	NFAT5	NM_138713.4(NFAT5):c.1197-10dup	noncoding	Benign
16	69670219	C	CTG	T69670221G	NFAT5	NM_138713.4(NFAT5):c.1505-16_1505-15insGT	noncoding	Benign
16	69670301	CT	C	T69670308A	NFAT5	NM_138713.4(NFAT5):c.1557+20del	noncoding	Benign
16	69684873	C	CT	A69684882T	NFAT5	NM_138713.4(NFAT5):c.1691-6dup	noncoding	Benign
16	69684873	CT	C	T69684881A	NFAT5	NM_138713.4(NFAT5):c.1691-6del	noncoding	Benign
16	70258142	A	AG	T70258145G	AARS1	NM_001605.3(AARS1):c.2067dup:p.Tyr690fs	coding	Pathogenic
16	70258895	CAG	C	A70258898T	AARS1	NM_001605.3(AARS1):c.1992+83_1992+84del	noncoding	Benign
16	70264731	A	AT	A70264744T	AARS1	NM_001605.3(AARS1):c.1492+215dup	noncoding	Benign
16	70265687	C	CA	C70265696A	AARS1	NM_001605.3(AARS1):c.1223-33dup	noncoding	Benign
16	70267642	CA	C	A70267647C	AARS1	NM_001605.3(AARS1):c.1222+16del	noncoding	Benign
16	70269915	TAG	T	G70269921C	AARS1	NM_001605.3(AARS1):c.817-158CT[2]	noncoding	Benign
16	70271889	CT	AG	C70271889A	AARS1	NM_001605.3(AARS1):c.562_563inv:p.Ser188Leu	coding	Pathogenic
16	70482468	TTCTAAG	T	A70482473T	COG4	NM_015386.3(COG4):c.1920+255_1920+260del	noncoding	Benign
16	70498270	CTA	C	A70498272G	COG4	NM_015386.3(COG4):c.1196-217_1196-216del	noncoding	Benign
16	70512030	T	TA	G70512031A	COG4	NM_015386.3(COG4):c.738+208_738+209insT	noncoding	Benign
16	70517587	CAA	C	A70517610G	COG4	NM_015386.3(COG4):c.369+37_369+38del	noncoding	Benign
16	70517587	CA	C	A70517611G	COG4	NM_015386.3(COG4):c.369+38del	noncoding	Benign
16	70517587	C	CA	G70517612A	COG4	NM_015386.3(COG4):c.369+15dup	noncoding	Benign
16	70517937	C	CT	G70517950T	COG4	NM_015386.3(COG4):c.255-209dup	noncoding	Benign
16	70523627	G	GT	A70523640T	COG4	Single_allele	noncoding	Benign
16	70523627	G	GTT	A70523640T	COG4	Single_allele	noncoding	Benign
16	70523627	G	GTTT	A70523640T	COG4	Single_allele	noncoding	Benign
16	70692671	C	CG	A70692679G	VAC14	NM_018052.5(VAC14):c.2186+143dup	noncoding	Benign
16	70786383	A	AG	C70786388G	VAC14	NM_018052.5(VAC14):c.105-19dup	noncoding	Benign
16	70920692	TCTC	T	C70920695T	HYDIN	NM_001270974.2(HYDIN):c.7681_7683del:p.Glu2561del	coding	Benign
16	71569931	CA	C	A71569932T	TAT	NM_000353.3(TAT):c.1047del:p.Asn349fs	coding	Pathogenic/Likely_pathogenic
16	71570343	CA	C	A71570345T	TAT	NM_000353.3(TAT):c.966del:p.Ile322fs	coding	Pathogenic
16	71570765	CA	C	A71570766C	TAT	NM_000353.3(TAT):c.825del:p.Cys275fs	coding	Pathogenic
16	71575953	CG	TT	C71575953T	TAT	NM_000353.3(TAT):c.308_309delinsAA:p.Ser103Ter	coding	Pathogenic
16	71576326	CA	C	A71576327C	TAT	NM_000353.3(TAT):c.89del:p.Val30fs	coding	Pathogenic
16	71576406	A	AT	G71576408T	TAT	NM_000353.3(TAT):c.9dup:p.Tyr4fs	coding	Pathogenic
16	72014482	GTTCTGGGCCATAAA	G	T72014486C	DHODH	NM_001361.5(DHODH):c.248_261del:p.Leu83fs	coding	Pathogenic
16	72107557	GC	G	C72107561G	DHX38	NM_014003.4(DHX38):c.2809+13del	noncoding	Benign
16	74716563	CA	C	A74716564G	FA2H	NM_024306.5(FA2H):c.822del:p.Val275fs	coding	Pathogenic
16	74726394	CT	C	T74726405G	FA2H	NM_024306.5(FA2H):c.507-64del	noncoding	Benign
16	74774586	T	TCCTGGCCCGC	A74774607C	FA2H	NM_024306.5(FA2H):c.160_169dup:p.Asp57fs	coding	Pathogenic
16	74774624	CG	C	G74774627T	FA2H	NM_024306.5(FA2H):c.131del:p.Pro44fs	coding	Pathogenic
16	74774734	CG	C	G74774740C	FA2H	NM_024306.5(FA2H):c.21del:p.Ala8fs	coding	Pathogenic
16	75478981	TC	CA	T75478981C	CHST6	NM_021615.5(CHST6):c.847_848delinsTG:p.Glu283Ter	coding	Pathogenic
16	75541450	TGG	T	G75541451T	TMEM231	NM_001077418.3(TMEM231):c.668_669del:p.Thr223fs	coding	Pathogenic
16	75542683	TC	CT	T75542683C	TMEM231	NM_001077418.3(TMEM231):c.583-1_583delinsAG	coding	Pathogenic
16	75545909	G	GT	A75545911T	TMEM231	NM_001077418.3(TMEM231):c.354dup:p.His119fs	coding	Pathogenic
16	75555828	AT	A	T75555829C	TMEM231	NM_001077418.3(TMEM231):c.284del:p.Asp95fs	coding	Pathogenic
16	75556069	AC	A	C75556071G	TMEM231	NM_001077418.3(TMEM231):c.139+1del	coding	Pathogenic
16	75628381	AG	A	G75628383A	KARS1	NM_005548.3(KARS1):c.1695+187del	noncoding	Benign
16	75629290	C	CA	G75629293A	KARS1	NM_005548.3(KARS1):c.1551+123dup	noncoding	Benign
16	75631329	TG	T	G75631332A	KARS1	NM_005548.3(KARS1):c.1253-77del	noncoding	Benign
16	75635395	AAAAT	A	A75635397T	KARS1	NM_005548.3(KARS1):c.795+281_795+284del	noncoding	Benign
16	75635701	T	TAAGAAACTTCTTATATATGTGCCCTGCCCCTGCCCCTGCCCCTGCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCTCTCGGTCTCCCTCTCCCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A75635723C	KARS1	NM_005548.3(KARS1):c.773_774insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGGAGAGGGAGACCGAGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGCAGGGGCAGGGGCAGGGGCAGGGCACATATATAAGAAGTTTCTT:p.Leu258delinsPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgProArgGlyArgGlyGluArgGlyGluGlyArgGlyGluArgGlyGluGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaHisIleTer	coding	Pathogenic
16	75640354	T	TA	G75640373A	KARS1	NM_005548.3(KARS1):c.223-23dup	noncoding	Benign
16	75654148	TA	T	A75654173G	TERF2IP	NM_018975.4(TERF2IP):c.671-100del	noncoding	Benign
16	77293159	TG	T	G77293163A	ADAMTS18	NM_199355.4(ADAMTS18):c.3105del:p.Arg1036fs	coding	Pathogenic
16	77293197	GC	G	C77293198G	ADAMTS18	NM_199355.4(ADAMTS18):c.3067del:p.Ala1023fs	coding	Pathogenic
16	77295115	AC	A	C77295117T	ADAMTS18	NM_199355.4(ADAMTS18):c.2813del:p.Gly938fs	coding	Pathogenic
16	77341806	TA	T	A77341815G	ADAMTS18	NM_199355.4(ADAMTS18):c.1615-8del	noncoding	Benign
16	77341806	T	TA	G77341816A	ADAMTS18	NM_199355.4(ADAMTS18):c.1615-8dup	noncoding	Benign
16	77364243	AC	A	C77364245A	ADAMTS18	NM_199355.4(ADAMTS18):c.916del:p.Val306fs	coding	Pathogenic
16	77367564	CG	C	G77367568T	ADAMTS18	NM_199355.4(ADAMTS18):c.654del:p.Gly219fs	coding	Pathogenic
16	77367629	T	TG	A77367631G	ADAMTS18	NM_199355.4(ADAMTS18):c.589dup:p.His197fs	coding	Pathogenic
16	78099889	AG	A	G78099894C	WWOX	NM_016373.4(WWOX):c.107+9del	coding	Benign
16	78108404	A	ATT	G78108411T	WWOX	NM_016373.4(WWOX):c.108-14_108-13dup	noncoding	Benign/Likely_benign
16	78108411	G	GT	A78108418T	WWOX	NM_016373.4(WWOX):c.108-6dup	noncoding	Benign/Likely_benign
16	78115076	AC	A	C78115078A	WWOX	NM_016373.4(WWOX):c.333del:p.Thr112fs	coding	Pathogenic
16	78386679	TC	T	C78386683G	WWOX	NM_016373.4(WWOX):c.517-177del	noncoding	Benign
16	78432613	AG	A	G78432614C	WWOX	NM_016373.4(WWOX):c.918del:p.Glu306fs	coding	Pathogenic/Likely_pathogenic
16	78432736	CT	C	T78432739C	WWOX	NM_016373.4(WWOX):c.1043del:p.Phe348fs	coding	Pathogenic/Likely_pathogenic
16	78433014	AT	A	T78433021G	WWOX	NM_016373.4(WWOX):c.1056+269del	noncoding	Benign
16	79211678	TCAA	T	A79211683T	WWOX	NM_016373.4(WWOX):c.1129AAC[1]:p.Asn378del	coding	Pathogenic
16	79211976	G	GGTAAA	T79211985A	WWOX	NM_016373.4(WWOX):c.*184_*188dup	noncoding	Benign
16	79594427	GA	G	A79594428T	MAF	NM_005360.5(MAF):c.*32del	noncoding	Benign
16	79594639	AT	A	T79594652A	MAF	NM_005360.5(MAF):c.1119-87del	coding	Benign
16	79594639	ATT	A	T79594651A	MAF	NM_005360.5(MAF):c.1119-88_1119-87del	coding	Benign
16	79594712	G	GA	C79594723A	MAF	NM_005360.5(MAF):c.1119-169dup	coding	Benign
16	79598581	G	GGT	G79598611T	MAF	NM_005360.5(MAF):c.1118+176AC[15]	coding	Benign
16	79598581	G	GGTGT	G79598611T	MAF	NM_005360.5(MAF):c.1118+176AC[16]	coding	Benign
16	79598581	GGT	G	T79598609G	MAF	NM_005360.5(MAF):c.1118+176AC[13]	coding	Benign
16	81095980	T	TC	A81095984C	GCSH	NM_004483.5(GCSH):c.148+148dup	noncoding	Benign
16	81245849	C	CT	C81245876T	BCO1	NM_017429.3(BCO1):c.193+272dup	noncoding	Benign
16	81245849	CTTTTTT	C	T81245870C	BCO1	NM_017429.3(BCO1):c.193+267_193+272del	noncoding	Benign
16	81245849	CTTTTTTTT	C	T81245868C	BCO1	NM_017429.3(BCO1):c.193+265_193+272del	noncoding	Benign
16	81351699	TATG	T	T81351704G	GAN	NM_022041.4(GAN):c.282+7_282+9del	noncoding	Benign
16	81354241	GA	G	A81354256T	GAN	NM_022041.4(GAN):c.283-149del	noncoding	Benign
16	81354422	T	TA	C81354424A	GAN	NM_022041.4(GAN):c.301dup:p.Thr101fs	coding	Pathogenic
16	81354505	GC	G	C81354506A	GAN	NM_022041.4(GAN):c.384del:p.Gly127_Cys128insTer	coding	Pathogenic
16	81357857	A	AC	T81357861C	GAN	NM_022041.4(GAN):c.902dup:p.Pro301_Asn302insTer	coding	Pathogenic
16	81362517	TC	T	C81362518G	GAN	NM_022041.4(GAN):c.993del:p.Phe331fs	coding	Pathogenic
16	81362630	GGTTT	G	T81362636A	GAN	NM_022041.4(GAN):c.1086+25_1086+28del	noncoding	Benign
16	81363819	AGATAGATGGGAT	GA	A81363819G	GAN	NM_022041.4(GAN):c.1112_1124delinsGA:p.Glu371fs	coding	Pathogenic
16	81363868	GC	G	C81363869T	GAN	NM_022041.4(GAN):c.1162del:p.Glu387_Leu388insTer	coding	Pathogenic
16	81858089	AAAGCAGG	A	A81858090T	PLCG2	NM_002661.5(PLCG2):c.338-173_338-167del	noncoding	Benign
16	81858117	GA	G	A81858120G	PLCG2	NM_002661.5(PLCG2):c.338-143del	noncoding	Benign
16	81858436	GGGA	G	G81858437A	PLCG2	NM_002661.5(PLCG2):c.431+81_431+83del	noncoding	Benign
16	81869124	GC	G	C81869125T	PLCG2	NM_002661.5(PLCG2):c.480-89del	noncoding	Benign
16	81870769	A	AT	C81870770T	PLCG2	NM_002661.5(PLCG2):c.565-83_565-82insT	noncoding	Benign
16	81870828	TG	T	G81870830T	PLCG2	NM_002661.5(PLCG2):c.565-22del	noncoding	Benign
16	81907925	CCTGGCTGGCTTGTCTCTGATTGG	C	G81907933C	PLCG2	NM_002661.5(PLCG2):c.1557+159_1557+181del	noncoding	Benign
16	81921391	A	AT	G81921407T	PLCG2	NM_002661.5(PLCG2):c.2307+137dup	noncoding	Benign
16	81921391	AT	A	T81921406G	PLCG2	NM_002661.5(PLCG2):c.2307+137del	noncoding	Benign
16	83602784	A	AT	A83602785T	CDH13	NM_001257.5(CDH13):c.1101+190_1101+191insT	noncoding	Benign
16	83899157	G	GGGCCAGGCTTGAC	G83899179T	MLYCD	NM_012213.3(MLYCD):c.22_34dup:p.Arg12fs	coding	Pathogenic
16	83899203	CG	C	G83899204C	MLYCD	NM_012213.3(MLYCD):c.60del:p.Arg21fs	coding	Pathogenic
16	83899227	CGAGCGGGCAGGCGGCCGGCGCCCTG	C	A83899236C	MLYCD	NM_012213.3(MLYCD):c.92_116del:p.Gln31fs	coding	Pathogenic
16	83899511	C	CT	G83899513T	MLYCD	NM_012213.3(MLYCD):c.368dup:p.Gln124fs	coding	Pathogenic
16	83899620	C	CCGGGG	A83899623G	MLYCD	NM_012213.3(MLYCD):c.478_479insGGGCG:p.Asp160fs	coding	Pathogenic
16	83906741	C	CA	T83906742A	MLYCD	NM_012213.3(MLYCD):c.529-246_529-245insA	noncoding	Benign
16	83908238	GT	G	T83908242G	MLYCD	NM_012213.3(MLYCD):c.758del:p.Leu253fs	coding	Pathogenic
16	84022720	CTT	C	T84022721G	SLC38A8	NM_001080442.3(SLC38A8):c.805+53_805+54del	noncoding	Benign
16	84029715	A	AAGGAAG	T84029720A	SLC38A8	NM_001080442.3(SLC38A8):c.633-165_633-164insTCCTCT	noncoding	Benign
16	84032176	TGTTGTTGTTTTG	T	G84032177T	SLC38A8	NM_001080442.3(SLC38A8):c.531-220_531-209del	noncoding	Benign
16	84032185	TTTG	T	G84032200T	SLC38A8	NM_001080442.3(SLC38A8):c.531-232CAA[4]	noncoding	Benign
16	84042041	TC	T	C84042044A	SLC38A8	NM_001080442.3(SLC38A8):c.116del:p.Gly39fs	coding	Pathogenic
16	84147094	TCATCTGTAAGCTGGAATAATTATACAGGAGTATAAGGAGAGAATTATAATTAAATGTCCCAGCATATAGTGGGCCATTATTAAATGGTAGCTCTTGTTATTAATTACATATTAATATTTATATATTGAGCGCTTATTCTTTATTTTTTCCACAAACATTTATCTGTTGCTTCCTGTGGCTGGGCATTCTATGCAAAATTGATGAGTTTAAGAACCAGTCCCCACACGCACAGCCTTTAGTCTTGTTCAATAGACCACACAAACACAGAAAGCAGCAGACAACAGCTCTTAAAGTTAAGTGCGGTTGAATTGGCCAATTTTGAATGACCTTTAAAAAAATTATTCATTTGAATGTGCTCATGTTATTGTTATCATAGATATTCTCACTATTTTTGTTTCTTTTCATGTGATTTTCCTTTTTATGATTTTTTTTTTAAGAGATGGAATCTCACTATGTTACCCAGGCTAGATCTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCTCCACTACACCTGGCTTCAGAAATTTTTTAAAAGACAAAAGAACAAAGAACATTAAAACAAATACCCGTGTTTTGCCAGCAAGAATTGAAAATGAGTAACATTTTATCATATTTATTTGAAGTCTTTTTTAATTAAAGAAATAAGCCCCCCCCAAAAAAAAAATAAAAATAAATAAGGGTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGGTCACCTGAGGTCAGGAGTTTGAGGACAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTAGGCATGGTGACAGGCGCTGGTAATCCTAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCCCGCCACTGCACTCCAACCTGGGGGATAGACCAAGACGGTCTCCAAAAAAAAAAAGAAATAAAACATTTCACATAGAGTTGGTGTTCCTTTTCTCCCCTGTACCCCACCCCGTTTCTAATCCCATTCCTTTCCTCCCTTGTCCAGAATTTTATATGAATTCTTGCAAGCACTTCTCTATACATGTATGCCCTGAAACAGTGTATAGTATTGCTTTGCATATTTTTAATTTATATATGGTATCCTGTGCTTATTTTGAAACTTGCTTTTTTCACTCCATATACGTTTCTGAGAATTATCCCTATGGATAGATGTAGTTCTAGTGCATTCTTCTCAAAGGTAGAAAAGCAAGTCATTGTTTTATGTAACCAGCCCCTATGGATGGACATTTACGTTGTTAACAGTTTTTGGCTTTTATAAAAAAAAACGCAGAAACAAATCTCTTTGTCCATGTTTTCTTGTGCACCTGTACAAGAGTTTTTATAGAGGATCTACCTAGAAGTGAAATTTACATAGTCTTTGCCAATGCTTTAAAAATTGTTACACATTTAAAGATTACTGTTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTGGTGAGACGGGGTCTCACTTTGTTGCCAGGCTGGAGTACAGTGGTGTGAACACAGCTCACTGCAGCCTTGACTTCCCAAGCTCGAGTGATCAACCTGCCTCAGCCCCACAAGTAGCTGGGAATACAGGCACGCACCACTACATCTGGCTAATTTTTGTAGAGATGGGGTTTTGTCATGTTGCTCAGGCTGGTCTCAAACACCTGGGCTCGAGCAATCTACCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCCTGAGCCACCATACCCAGCCACTAAAGAATACTGGTGTTCTATACTAAAAGTGGATGGTCATTAACCAAGCTGAAGTTGGGGGTATTTTTTGGCATATATCTTGATCTCTACAGACCTGATCTCTTTTATTTTACAGAAATTAATGATCCTAAGGAAATATGTGTGGGTTCTTCTGACACATCCTACCACAGCCAGCAGAAACAGAGTGGTGATAATGGGTCAGGTGGTCACTTCGCACACCCAAGAGAAGACAGGGAAGATCGGGGCCCCAGGTATGTGGGCATACTCCTAATTAGTGCACATTTATGGAGTAAGGTAGATGGCGTAATCACCCCCTTGTACGGATAATGAAATAGAGGCTGGTAGAGATTGAATTGCCTGCCCAATGTCTGAGAATGGAGTGAGGATGGCACTGCCTCTGCCGCACAGCTGAGCGCACATTCTATTAAACTTTAATGCCAGACTGCAGAGAGGAACAGCAGTAGTTCCTCATGACACCATTTAAAGTATTTTTATTAGAACATACAATGCAATTTTTAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGAATCACAAGGTCAGGAGTTCGAGACCAGCCTGCACAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATCATACCACTGCACTCCAGCCCGGGCGGCAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAACATACATTGCAATTTTTAAGAATGCTGAAAATAAGCCAAGCGTGGTGGCCCTTGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGTGGATCACCTGACGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCCCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAATGCTGAAAATAATATTCGATGAGGCCCTAAAATCTGTACAAAAAAGAAGAAGAAAAAGGAAAGGAGAAAGAGAAAAAGACGAACTTAAAATAGGTATCAGGGATATAGGATGTTATAGAATTTTGGGCAGGAATGGATGTGGTAAAGAACTGTGAGAATATGTTTTACAGCTGACAATTTGCAATAAGCTTATTCATATTTTTCCATTTTAACAGAATGACTAAAAGTTCCCTGCAAAAACTCTGCAAGCAGCACAAGCTTTATATTACCCCAGCATTGAATGATACGCTGTATTTACACTTTAAAGGTAAGGACCTAAGAGAGGAAGTGCTTCACGTCAGGTGGAAAGATTCTGTCTAGCGGTATAAAAAATTACTTGCAGGGATCACCTTTAGTTCTCAGAATGTATCTAAGCAGGAAATTTCAAAGTTTAGTGGAGATTTATGGAAAAGGAATAACATTTATTTCAAGAAAAAGTCTTGCCTGACCAGTTTACAAAGGAGCCACTGGCTATAGGAATACCAAGGAAACACATTATCTTTCATTTTTGTTTCCTAAGGAATTTTTTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGTGTCTTGCTCTGTTGCCCAAGCTGAAGTGCAGTGGTGCAATCTCTGCTCACTGCAACCTCTGTCTCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGTTACAGGTGCCCACCACCACGCCTTGCTAATTTTTGTATTTTTAGTAAAGGCGGGGTTTCGCCATGTTGGCCATTCTGGTCTCAAACTCCTGAACCCAGTCGATCCAGCTGCCTCAGCCTCCCAAAGTACTGGGCTTACAAGTGTGAGCCACTGCACCCAGCCAGGACTTTAATTTTTCATACCAGAAAGTTAGTTTGTAAGTACTTTGGGGTTGGGAGGTATATGTTGGGAAGGATTGCAGCTTGATGTTGGAAACAAATGATGAGGATCTTTGGATGCCTCTTAGAATGGAGAGGCGTGAGCAGGAGCCAGGGTTGGAGGCCAGTATCACATATCAATGGAAGCTCAGGTTCACAGACAGGGCTTTTCCCAGCCTGAGGGCTTCCAGTCTGTGCTGATGGGGTGACCAGCTTGCTCATCAGTCCTCTCATTGTTCATTTGTCTCTTCAGTAGCTGCTTGCTGAGAGTCTACTGTGTGCCCAGCACTGCTCAGTGCTGAAAATGCACAGAGGGAACCGGCAAAGGTGCCTTTGGTGTCCTGGGGGATGGGAGCAGCTATTATGAGGACGGTGCCACGCCAGGGAGACGCCCAAAGGGATCCAGGAGCACAAATGCCTTAAGGGGTTGGAACGACTCCTATGGGTCTCCTCACCTCCACTTTTGCCCACTCCAAAATTCTCTACCCAGCATCTAAGCATAGCAGTGAGTAAGATGATGTAGGAGGACAGACTGCCGGGGGACTGATACTTAAGAGGTGGGAAGAAGAAAGGAACCAGTAAGTTTGACTGAGTAGAGACAGTCAGAGAGGTAGAAGAGCTGGGAGAGAGAGGTGCCCATATTAGTTATCTATTGCTACATAATTAACTGCCCTGAAACTTAGCAACTTCAACTCATGATCTCACCCAGTTTCTGAGGGCCGGGAACTCGGGAGTCATCAGCTGGGCGGTTCTGGCTCAGGGTCTCTCATGAGGCAGTAGCCAGACTGTCAGCGCAGTCTCACTCATTCGATGGCTTGACGAGGGCTAGAGAATCCACTTCCAGGCTCTAGGCCTCAGACCCTCATAGCTGTCAGCCAGAGGCCTTAATTTCTCACCACATGAGCCTCCCCATGGCAGCTGGCTTCCCTCAGAGCAAGTTACCCAAGAAAGGAAGCAAGGCCAAGACAAAAGTGGAGGTGACACTTCATCACTCCATTGTATGCTGTTGGTGTCTGGATCCACTCCTGTCTTACTGCATCGCTAACATGAAGGCATTGACTAGGAGGGTGATCCAGAGAGCCTGAGGAGGAAGCTGGGAAAGGGGCGCAGGGCCTGTGGGCCAGATGCCTTGGAATGGTCAAGGGCTAAGAGGACTGACCGTAGCGTGTAGCAGTTAGGATCTTAGGGAGACTTTAGCCAGGTGGTTGCAGTGATGGTGGGATCCAGGGGAGAGCAACAAGTTGGAGATGGCTTGAACAGCAAAGGGGGAGGAGATGGGGTAAGAGCTAGAGCAAAGACCAGGGAGAAAAACCAGAATGTCAGAAACCCAAGGGGACAAATAATCCAGTTTCTTCAACAAAAAATTACAATGTAAGAAAGAGAGAGAGACATACACACACTCTTAGGTTAAAAGTGACTTAAGGCCAGGCGTGGTGGCTCACGCCTGTGATCCCAGCAATGTGGGAGGCCAAGGCAGGCAGATCAGGAGTTTGAGACCAGTCTGGCCAACATGGTGAAACCC	T	G84147100C	DNAAF1	NM_178452.6(DNAAF1):c.124+1536_353-2102del	noncoding	Pathogenic
16	84150024	C	CA	T84150036A	DNAAF1	NM_178452.6(DNAAF1):c.261-216dup	noncoding	Benign
16	84150320	T	TA	C84150322A	DNAAF1	NM_178452.6(DNAAF1):c.331dup:p.Thr111fs	coding	Pathogenic
16	84150616	C	CT	G84150634T	DNAAF1	NM_178452.6(DNAAF1):c.352+291dup	noncoding	Benign
16	84150616	C	CTT	G84150634T	DNAAF1	NM_178452.6(DNAAF1):c.352+290_352+291dup	noncoding	Benign
16	84150616	CT	C	T84150633G	DNAAF1	NM_178452.6(DNAAF1):c.352+291del	noncoding	Benign
16	84159973	AT	A	T84159980A	DNAAF1	NM_178452.6(DNAAF1):c.863+184del	noncoding	Benign
16	84170320	GC	G	C84170324A	DNAAF1	NM_178452.6(DNAAF1):c.1496del:p.Pro499fs	coding	Pathogenic
16	84172242	CTTG	C	T84172249C	DNAAF1	NM_178452.6(DNAAF1):c.1529-17TTG[2]	noncoding	Benign/Likely_benign
16	84174840	AT	A	T84174842C	DNAAF1	NM_178452.6(DNAAF1):c.1698+120del	noncoding	Benign
16	84176309	T	TG	C84176314G	DNAAF1	NM_178452.6(DNAAF1):c.2065+14dup	noncoding	Benign
16	84194538	C	CA	G84194539A	ADAD2	NM_001145400.2(ADAD2):c.515_516insA:p.Leu173fs	coding	Pathogenic
16	85920239	CT	C	T85920264G	IRF8	NM_002163.4(IRF8):c.1104+40del	noncoding	Benign
16	86510623	C	CG	C86510626G	FOXF1	NM_001451.3(FOXF1):c.56dup:p.Gly20fs	coding	Pathogenic
16	86510642	GC	G	C86510644A	FOXF1	NM_001451.3(FOXF1):c.75del:p.Met26fs	coding	Pathogenic
16	86510689	C	CG	C86510691G	FOXF1	NM_001451.3(FOXF1):c.121dup:p.Ala41fs	coding	Pathogenic
16	86510804	CAG	C	A86510807C	FOXF1	NM_001451.3(FOXF1):c.238_239del:p.Ser80fs	coding	Pathogenic
16	86510825	C	CG	C86510830G	FOXF1	NM_001451.3(FOXF1):c.260dup:p.Ser88fs	coding	Pathogenic
16	86511417	C	CT	A86511420T	FOXF1	NM_001451.3(FOXF1):c.850dup:p.Tyr284fs	coding	Pathogenic
16	86511419	TATATC	T	T86511421A	FOXF1	NM_001451.3(FOXF1):c.852_856del:p.Tyr284_Lys286delinsTer	coding	Pathogenic
16	86511456	CG	C	G86511458C	FOXF1	NM_001451.3(FOXF1):c.889del:p.Ala297fs	coding	Pathogenic
16	86511467	CT	C	T86511468G	FOXF1	NM_001451.3(FOXF1):c.899del:p.Leu300fs	coding	Pathogenic
16	86567892	CG	C	G86567893C	FOXC2	NM_005251.3(FOXC2):c.558del:p.Pro188fs	coding	Pathogenic
16	86567895	CCCCGGCGGCGT	C	C86567898A	FOXC2	NM_005251.3(FOXC2):c.563_573del:p.Pro188fs	coding	Pathogenic
16	86567924	A	AC	A86567931C	FOXC2	NM_005251.3(FOXC2):c.595dup:p.His199fs	coding	Pathogenic
16	86568044	C	CT	G86568046T	FOXC2	NM_005251.3(FOXC2):c.710dup:p.Gln238fs	coding	Pathogenic
16	86568230	CCGCCGCTGGCGCTGCCCTA	C	T86568237C	FOXC2	NM_005251.3(FOXC2):c.902_920del:p.Leu301fs	coding	Pathogenic
16	86568304	CG	C	G86568308C	FOXC2	NM_005251.3(FOXC2):c.973del:p.Ala325fs	coding	Pathogenic
16	88317549	GACCTGGTGCAGATGTAGTCTCCATCGTGCTGAGGCTTGGGTGTTGGGGTTGAGGGGCAGTGCCCGCCGGCAGCCGCCCTGCACAGCTCTCTGGCCGGTGCAGAGGCCTTCTCTTTCCTCACTCTGGCTTCCAGCCACAACTGTCCTCTCAACCACAGGAAGTCCATGTGCAGCTTCCCAGACGCCTTTCCCTTGACCGTGACTTGAGTCCCCAGGAACTTACAGGAACCTTCCAGAAATTCCCTCTTTATCTCCCAAATCCCATCTGGTTCTGTTTAAGGATTCACCATACTTCCTCCTGCTCTCTGCGCCGCTGAACCGGGCCTGTCTCAGAGCTCGGTGTCATCTTTCTCCCTGGGACAGGGGTGAACCTAGGTCTTGAGGGTGATGGTGGGGTGAGGTCCCCGTGCCTTGGCACTCAGAGCATGGCCTTTCCTCCTGCTTCCTCCTCCTGGCCCCAGCCCTGTCCTCTGCTGTCCTTTAATGACAAGTTACTTTTATTGCCACAGAATCTGCCACTGTCCCCATGAGGAGAGGGACCTGCGATCCCTGCCCGTGGCTTGGGCCTCTCAGGTTTGGACAGCCGGTGGCAGCTCCACCCTCTCAGCCCTTCTCTCCCAGATCTTCGGGCCCAGCCTGGGCTGGAGGGAGGCCGCTGGTTCTCCAGGGCGCGTTCCATGGAGCTGCGGCTGTGGCTGTGGGTATACCAACTGCAAAGCCCCCAGTGGGCCCGGGTCTGTTACATTCGGCAGGGGCTGCCCTTTTTAGCCTGGCCCCCTCCAGCCCAGCCTCCTCCTGGAGACGCTGCCCCCCCTTCCTCCTCTCCATGCTCTGTGCCCATTCGGTAAGCGGGGAAGAGCCAGCGGTGTCCTCTGCCCCAGCTGCATCTCAGGATCAGGGGAGGAGCTGGCGGTGTCCTCTGCCCCAGCTGCATCTCAGGATCAGGCAATTCTCCCCCCAGCCCTTTAGCAAGTCAGGGAGACGCGGTGGCCCCTGCCTGCCAAGGGCAGGAGTGGGGTGGGGGATCAAGAAGGGGACCATTTTCTGGGTTCTGTTGCTCATGAAGTAAGAACTCCTGGCGTGTCCCACACCTGGGCTGCCTCCCTCCCTGGCCTGTGCCGTGGGGAGAGGACAGAGCTCAGCCACGGCTGGCTGCTCTGCCAAGGGAGGAGTCTGAGATCTTGGAGCTCGGAGGAGGGGATGCTCCCTTGGAAAGCATGCGAGGGAGGGAGTCTGTGCAGAAGGACCACTGCCAAATCCCGAACAGCGCGTGCAAGGGGGAGAAGCCCCAGCGTCCAGACGGCCATCATGCAAACAGCTTGGCCCTCACGTGGTGACCGTCCTCACCAGGGCAGCAGCATCTTCAGATGTCAGCTGTATGACACCCAGAGATAAACTTGCTTTTGTTTGGGAGCCCAAAAGTCTCATTACCTGGGGGTCAGGACCAGACGGGGCACCCCAGGGCTTTCCTAGCAGGTCATTTTGTATTGCCAGCTGGGGTCAAGAGGGCCTTGGCCACCAGGCTGGGGCAGGATGGGACTCTGCCTCAGGCTTCCGATGCATGCCTTCCCATGACCGGCCACTGTCCTGCGGATTCTGGATTTGGGGTTCGGGCTCCTCACAGACAGATGGAAGAGGGTCTGGGTGTCTGGCTGCCCACACTGTCCCCCTTGGCCTCACCTCCGAGGGGGCCTTGCAGGTGGCCGAGACCTGGACACCTGCCTTTCTGAGGTTCTTCCTCACCAGTGTCGCCTAAACAAATGCACTCAGGCCCCTGACTGAGCCGAAGGGGGCTCCTCGTCTGCAGGGCCAGGAGACTTTCTTGGGCGGAGCCACACAGGAGGTGCAAGGATTGGGCCCCGGGAGGAGGGGGCTGCTCCCCCAGGGAGGAGGAGGCAGTCCGAGGCCTCGGAAGGTGGGGGCCCTCCTGAACAGAGTGAGCACAGGCCCTGCTGATGCGCCCGGGTCCTGCCAATGATCCCTTTTCCATGTGCAGCGCCTCTCAGAGGGGAAGCAGCGGGGCCACTCCCCAGGCTGCCCTCCTAGGGCCTCAGGTAGCCCCCTTGGCTCCCTGCCACCCTTCTCCTCCCCATCCACCATTTCCAGCCCTCCCTAGGAAGCCCCGTCTGTGGGTCGTGCAAACTCGACGCCTTGGGTTTGTGGATGCTGCAGGGAGAATAACAGGACACGCTGAGTGGTCAGGAGCCGGCCCCCAGGCCTCCCTGCAGCCCAGCTTCGCAGCTAGAGGACTCCCCTGCCCTACAGGTGGGACCCTGACTCTGGTGGAGACCAAGCTGCTGGGTGAGGAGCTGGGCCTCAGGCCCCTATCTTCCAAGGAAAGGTTTTCTCCAGTCTCCAAAGCCAGAATGGTGGGCTCCTGACCCTCATGTGGGGTCAGTGAGGGTTTCCTCCCATCTGGCATCTCCCCGGCCTGAAGCCTGACTCCTCGCCACACAGGCCATGATAACAGGCACCCCCCAAATGTCCAACAGCGGGGGATAATTCAAAGCATGGCCAGGCCTCCACTCATGGAGCATTATGCAGCCATTCAAAAGCAGGTGGGACATTTACAGAGCACGGGGGAAGCTGCTTGCCGTGGCAGAAGTTAAACAGGCTGAGTGCCTTGCACGTGTTTACTAAGTGATAATTCCACCCAATTTATATAATCCTAGGGAGACTCGGGGTTTTAAATGTCATCTTCAGAATGTTCCTGCTGATTACACTGCCCTCATGATGGGAAGCCTGCGTTTACTCTAATGGTAATAATTATTGTTAACAGTGAGGCCTTGCGTCTTCATCAGCATTTCTTAAAGGCTGACCACGAGATTCTTTATTCTTTTTTCTTTTTTCTCGGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATGTGAGCTCACTGCAACCTCTGCCTCACAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCAGAGTAGCCCGGATTACAGGCGCCCACCACCATATCTGGCTAGTTTTTGTATTTTTAGTAGAGACTGGGTTTTACTACGTTGGCCAGGCTGGACTTGAACTCCTGACCTCAAGTGATCTGCCCACCTTTGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTGACCATGAGATTATTGACAGGTATGTTGGTCTTGAACTTGAACACGTCAGCTGGAGACCCGCAACAGCCTCCTGCACTTATGTCCATGTAGTCTCATTGCTGGTCTTTAGAAAAACAACAAAACAACCCCCAGTGGTTAACCAGCCAGTCAATGCCGAACCCACCCAGCACACGCCCAACACGAGTCCACAGAGGGTGTGAGCTGCCCCCTCAGACTCTGCAAGTGGGAGGAGTTCAGGACGCAGATGCAGTGTCCAGTGCTCGGGAATGAATGAATGAGTGAATGGATAGATGAACAGGCGAATGAGACACCGTGGCTGCCATCCGAGGCTGCCTTTCAGTATGAAATGTTGGGGTCAGGGTGGGGACGTGAGGGCCTTCCTCAGCCAGTCGGTCCCAGGTTGACCAGGCTGCAGAGCGGCCCAGCCTGGCCCGGGGATGCCGCAGGGACCAAGCTCCTCCTGTCCAGGCTGTCCTGGGCGAGGCGCCAAGGGGAAGGTCCTGGGGTGCCCCCCACCTTGGGTTTCCCCCTCGGGATCTTGCTGGGGCAAGTCTGAAATCCGTAGGGCAGGCTGGAAACCCAGGCAGGAGCTGATGCTGCAGCCTTCAGGCAGAATCCACCATCCCAGGGAAACCTTGGTTTTTGCCCGTAAGGCCTTGCCTGATTGGATGCAGTCTTCAAATTCTGCATGTAAGGCCTCACCTGACTGGATGCAGCCCTTGGCATCTGCTCATAAGGCCTCACCTGATTGGATGTGGCCCTTGGCTGCTGTGTTAGGCCTCACCTGATTGGATATGGCTCTCAGAGTCTGCATGTCAGGCCTCACCTGATTGGATGCAGCCCTCGAATTCTGCATGTAAGGCCTCACCTTATTTGATGTGGCCCTCGGATTCTGCTCATAAGGCCTTACCTGATTGGTGTGGCCTCAGATTCTGCATGTAAGACCTCATCTGATTGGATGTGACCCTCGGATTCTGCTCATAAGGCCTCACCTGATTGGTGTGGCCTCAGATTCTGCATGTAAGACCTCATCTGATTGGACATGACCCTTGGCTTCTGCACATGAGGCCTCACCTGTTTGGATGCAGCCCTCGGATTCTGTTGGTAAGGCCTCACCTGATTAGATGCAGCCACCGCCATCCGGAGCATGATCTGCTTCACTTAAGGTCAGCTGATGGCCAAGGCCAGTGCCTCCCCCAAATGCCTTCTTGGCAACACCCAGACAGGTGGGATGGAACCCAGGGCTCAGTGGCCACAGGATGCTGCACCGCTTCTGACATCACTCAACAGCAAAGACCCTAGGACAGGCCCTGGCGAGATCTCTGTGGGATGAGAGGGCCCTGGGCATGAGAGAGAGGCCTCACTATTGGAAATGGTCCCTGTGGGCCTGGACGAGCTGGGCGGGCTGCAGGCTACAGCATCATGGAGCCACGGCAGGAGGTGCCGCCTGGGCTGCTCCGACCCTCCCCGCGGCCTCGGCATCTTCTCCCAGCCTCCGATGGACTCAGAGCCCAGCGTGTCAGAGCCGGGGGCGCTTTTCACCCAAACCTGTGCCCCACACAGTCCCCAGGAAATCGGAGGCCAGGTGAATCGGAACTCACCTGAGGCCCCACGGCCGCTCTGGGAGGAGCCAGCTCTGCCAGTACCTGGACCCATCACATGGGAGGCGGCTGCGAGGCTGGGAGGCAATGGCTCCTGCACCTGCTCTCGCGGTCTCGGGAGCCCCGCCCTGCCTGTCACGTCAGTGTCCCGGCCGTGTTCATCCTGAAGCTCCACAGCCGCAGCCACCCATGGCAGTGGGGAGCCAACTGCAGTATGCTCTGATCAAACCGTATCTCATGGCTCCAGCACAGATGGCGGGAGCTACGGCAAGTCCGGTGATGCTGGAGGGGGTGTGACTGACGAGGAGGGTTTGTGCCAGAGCAGGCGGCACCACCACTCCTCGGAGACTGTGTGGGACCCGAGCGACCCCTCCATCCCACGGACTCCAGGACTCAGTCAGGGGTCGCCCTTGCCTTGAGCTCTAGGCTGCATCAGGAAATGCATGAAGGTTGCCGAATAACCACTCCAGGCCCTCCCCGTGCCCACCCACCTTCAGGAGAATCCGTGGGATGGGGGAACCATCGAATGGACTTGGCCCAGGACTTGGGGGCCAGGTTCAAATGTGAGCCCAGCCCAGGAGACTTTGGGCAGGCCTGTGACTGTCGGAGGCAAGGAGACGAGCTCAGGAAAGCGGAGAGGATGACAGCTCTCGGCTCCTCCTGTCTCTCCCAAGATTGGAGAACGGCATGCTTACAACGCTGTCAGTACTCATGCCACCCAGCCACGGCCATCTGGAAGTTGTTAGCTGTTATTACCTGTGGACAGTGTGGATGGCACATGAGCCTCAGTTCCCCTCGTCTGTAAAGTGGGGGCAGTGATCCCACATCATGGATTAGAGCTGCCGTTCCCTGGGTGCCCATGTTGTGCAGTCAGGAGCCAGGCTCGGTGGCCACCCTGCCTTCTGCCACGCAGTCTGCCCCAGGCTCTGCAGAGCTCCGAGGAGGGGCCCCGGAGGCCTTGGTGGTGCAGTGCCATGCCCCTGGGAGGCTGGGGACACGTGTCCCAGGCCCTGACACCCTCGCAGGCCGCTCAGTGGATTACAGGGCCACAGACCTGTCCTGACAGGGCCACATACAGCTGCCAAGATGATGGCTGCTTACCTAGCAAACTCTAATGCCAGAAACCACCTTCTTCCTTCCCACTTCTCTGTAGCATTTGTGTTTTGATCACTTCTGACATCACTCAGCAGCAAAGGCCCCAGGACAGGCCCTGGCGAAATCTCTGTGGGGTGAGAGGGCCCTGGGCATGGGAGGGAGGCCTCACTATTGGAAATGGTCCCAAGAGCCTCAGGACCCTGTGGGAAGGCCTGGGCAGCCAGGCTTCCTCTTGGCAAAGCCAGGATCTCCCTGACCCCCACTTTCTGGTGGACAGTGTAGAGGTATTGGGGGGGCTGCCACTGAGTGGCAGAAGTGGGCAGGGGGACTCCCACACCCAGTGTTGCCCATGACCGGTAATGGCCGTGGTCCCACAGACCAGGGGCCCACTCTGCCCCTGGCACATGCCAGACCGCAGCTGTGCAGTCTCCCACTCCGTGCCCCCATCCCCCTGCAAAAGGGTGTTGTGTGTCCATCCTACAGATGGTGACAGGGAGACTCGGAGGAGGCACGTGGGGGTGCCCACCATTTCACCCCTCCCAGTTCCCTACCATGGTAGAACAATCACCCCAGAACTTAGTGGCTAAAACCAAGCAGAGTTACTTATTTTGCTCACAAATCAATGGTTGTCAGGGCCTGCGGGCAGCAGCTCACCTCAGTGACACAGGCTTCAGCTGGAGCAGCTGGGCTGGGGTGAGATCCGCCGCAAAAATGGCACACCACATGGCTGGCCAGGGGCCTGTGGTCAGCGCCTCCCCACGGGGCCTGTTCGGGGCTACTTGGGCTTCCTCACAGCATGAGGGCTGGGTCCCAAGAGGCAGGAAGTAGAGGCTGTCAGTTTCGGACCGCCAGCCCTGAAATTTTCTGAGCAATACTTCTGCAGCATTCTGTTTTGGCCAAGAAGTAAAAAGGTCCAGATTCAAAGGCAGAGACGCAGACCCCCACACACACCCCTTATGGGAGGTGGGTGGAAGGATGTGGGGGGCTGTTGTGTCACAGCTGTGCCGTCTGGGATGTTGACCTCCCCAGAGCTCTCAGGTGTGAACACACGTGTGGCCAGGCCTCAGTGCTGTCCTCTCCTATGGCTGTGATGCAGAGAGTCCCAGAACCAGGGCTCAGCCCGGGAGGGTTCTTGGCTTCACTCAGGAAAGAATTTGAAAGCCAGCTGGTGGTGGAAGGCAGGTTTACTTAAGCGGCCGTGTACAGAGAGTTGCTGCTCCTTGCAGAGCAGGGCTAACCCACAGGGAGTGCGCCAGGGTGAGTGCATAAGGGACTGTAGCTGTTTTTATACCCACTTTTAAGTATGTGCGAATTAAGGGGAAGGTTATTCAGAAATCTCTAGAAAGGGGGCGGCACCTTCCAGATGTTGCCATTGCGTTTGTAAACTGTCATGGTGCCGGTGGGTGTGTCTTATGCTGATGGGCAGAGGGGGCAGCTGGAGGAAGCTGTGTTAGTCTGTTCTTGCACTGCTATAGAGAAATACTTGATACTGGGCAATTTATAAAGAAAAGAGGGTTGGCTCACAGTTCTGTAGGCCGTACAGGAAGCATGGTAGCTTCTGCTTCTGGGGAGGCCTCAGGAAACTTACAGTCATGGTGGAAGGTGAAGGGGGATCCAGCACTTCAGCCAGTGGGAGCAGGAGGAAAAGAGAGAGGGAGGAGGTGCCCTTGGGAAATATCCTTCCAGCAGCTTCTGGTTGAGATCACATCCAGCTGCGGCATACTCAGGGTCTCAAGTCCTCACCTGCACACTCCAGGTGGTCCCGACAGCAGCTGCGACATACACAGGGCCTCAAGTCCTCACCTGCACACTCCAGGTGGTCGCGACAGCAGCTGTGACATACACAGGGCCTCAAGTCCTCACCGGCACACTCCAGGTGGTCCCTACAGGCTCCGTAAGCTGCCCGAGGTGCACCCCGGGGGGCCGCAGGGGCTCAGACCCAGGACACCCACCAGACTGCACAATTGGTGGCCAGCTTCTGGGGCAACCATCAGGGTCACAGTGGGAGAGGCACAATTTCCACCCAGAGCATCACTCTTCCCAATTCATGCCTGAAGGCGGGGCAGCCGCTGAGTACCCTGCCCAGGGGACCCGGAGGACACAGGTCAGTGATAGGCGTGGCCCCACCACTGCAGCCAGGGGCACTATGTGTGGTGGCGCCAAGCCCAGCATGGCCAGAAATGACACTGATACCCACACCAGGACACAGTGTCCCAGGGTGGTAGAGCTGGAAGGGCCTCTGCCACTTAGGGCTCCTGGTCCCATCCCTCATGCAATTTGTGGCCTGTGAGACCCCCTAAGGGAAAGTGACTTGTTCAATGTCACCCCAAAAGTCTGCAGTGGGGCCAGGACAGACAGGGCCTTGCCACTCA	G	C88317551A	ZNF469	NC_000016.10:g.88317550_88325753del	noncoding	Pathogenic
16	88334970	GGAGGGGGAGCCGTGTGGGAAGATGCCAACGGGAGGACACATGTGTGATGGAGACGGACAGGGGAGCCATGCAGCCACTGGGCACAGGAAGAGGCAGGGAGGACCCACCAGAGCCTTTGGAGGGAGCACAGCCCTGCGCATGCCTTGATCTGGGACTCGCAGTCTCCGGGGCTGTGAGAGGATGAACGTCTGTTGCCCTAAGCTGCTAGGTTTGCCAGGAAACCAGGCCAGGCTCTCCACCACCCCAAAACTCAGAGCTTAACTGTAGGGTCAGATGCAGGCCAGGCTCTCCACCACCCCAAAACTCAGAGCTTAACTCCCTGGTTAGTACATATCTGGATGCACGTCAGGAATGCAGGCAGGGCTGGATGCACTTCCGCTCCACATGGTGTGGATGAGGGCCACTCCGGGGTGCTCTGTGGGCAGCTGGGCTGGTCAAAAACTTCCAGGGCGGCCTTACTTCTGCAGCTGGTGCCATGGCGAGACAGCTGGAACGTCCCCACAGGGCCACTCTGGCACGGGGTCTCAGGGTGGCCAGGCCCCCTCCTCGGCCCCTCAGGGCTCCCAAAGTGAGTGTCTGGAGGGGCCTCTGATGACCCAGCCACAGGGCCTCACTTTGGCCACACTCCACTGTTCAGGCATTGCCAAGTCCAGGCAGATGCCTGGGAGGGGAATTAGCTCTGCCTCCTGATGGGAGGAGAAATGAGAGCCTCGATAAGCATCGAATCAATGAAAGAAAGAAACTCACATGGAGGCATTGACGCAGCAACACCATGCATGTTCATCCTTCACGTGAGACACTAACATGCCAATACCACGCACATTCGTCCTTCACGTGAGACACTGATGCGCCAATACCACACATGTTCATCCTTCATGTGAGACACTGATGTGCCAATACCACACACATTCATCCTTCACGTGAGGCACTAACATGCCAATACCATGCACGTTCATCCTTCTCGTGAGACACTAACATGCCAATGCCACGCATGTTCATCCTTCATGTGAGACACTGATGCACCAATACCACACATGTTCATCCTTCATGTGAGACAGTGATGCGCCAATACCACACACGTTCATCCTTCACATGAGACACTAACATGCCAACACCACACATGTTCATCCTTCACGTGAGACACTAACATGCCAACACCACGCATGTTCATCCTTCACGTGAGACACTAACATGCCAACACCACACACATTCATCCTTCACTTGAGACACTAACACGCCAATACCACGCACGTTCATCCTTCACGTGAGACACTGATGCGCCAATACCACACATGTTCATCCTTCATGTGAGACAGTGATGCGCCAATACCACACACATTCATCCTTCACGTGAGACACTAACATGCCAACACCACACATGTTCATCCTTCACGTGAGACACTAACATGCCAACATCACACATGTTCATCCTTCACGTGAGACACTAACATGCCAACATCACACACGTTCATCCTTCACGTGAGACACTAACATGCCAATACCACGCACGTTCATCCTTCACATGAGACACATGCCAATACCGCGCATGTTCATCCTTCACGTGAGACACTGATGTGCCAATACCACACATGTTCATCCTTCATGTGAGACACTGACATGCCAACACCACACATGTTCATCCTTCACGTGAGACACTAACGTGCCAACAGCACATATGTCCATCCTTCACGTGAGACACCGACATGCCAATACCACACACATGCATCCTTCACATGAGACACTGACACGCCAATACCACGCAGACTCATCCTTCACATGTGCGATTCGGTGGCTTTTCATGCATTCACAAAGTTATGCGACCATCACCACTATCTCATTCCAGAACAGGTCATCATCCCCAAAACAAACCCCATACCCATGGAAGTTCACCACCTGCCGTTCCCCCAGCCCCTGGCCACCCCGAGTCTACCATCTCTGCTCTTCTGGGCATTTCCTGTGAGCAGAATCATGCTGTGTTTGCCCCTTTGTGTCTGGCTTCTTCCACTCGGCCCCGTGTTTTCAAGGTTCCTCCACGTTGCTTCATGTGCTAGTGTTTCACTCCTCTTCGTGGCTGAAAAGTATATTCTGTCATGGTTTAACCGTTCACCAAATGATCAGCATCTGGGCCATTTCCACGCTGGGGCTATGGTGAGTAGTGCCGCTATGAACGTTCACACCTGGTATGGTTTGGCTGTGTCCCCAACCAAATCTCATCTTAAATGGTGGCTCCCACCATTCCCGCATGTGGCAGGAAGGACCCAGCAGGAGGTAACTGAATCATGGGGGCGGGCCTTTCCCATGCTGTTCTCATGACAGTGAATAAGTCTCATGAGATCTGATGGTTTTATAGGGGAGCTCCCCTGCACAAGCTCTCTCTTGCCTCCTGCCATGTAAGATGTCCCTTGCTCTTCCGCCATGATAGTGAGGCCTCCTCAGCCCTGTGGAACTGAATGCATTAAACCTCTTTCCTTTATAAATTACCCAGTCTCGGGTATGTCTTTATCAGCAGTGTGAGAACGGACTAATACAACACCCAAGTGTTTGCACGGACGTGTTTTCAATTCTGCTGAGTTTATACCTAGTGGTACAGGGTCCCAGCGTCACTCTCTGATTGTCTTTTTGAGGAAGTGCCAGGCTGCTCCTCATTTTGCATCCCCATTTGCAAGGCACGAGGACTCTGGTCCTCTGCATCCTCAGCAGCAAGCATCACTGCACATCTTTAGTTCTGGCCACCCCACGGGCGTCAGGGGCAGCTCGCCGCAGCTGTGACGCACGTTTCCCTGGTGGCTGATGGTGTCAGGCATCTCTCCATGTGCGTTGGAGAAGCCCACTCAGATACACGGCCTCTGCTTTAATGGGGTTGTCTGGCTTTTTGTTGTTGAGTTGTGCGTGCTCTGTGTATATGCTGGACGCTAAACCCTTCTCAGATGGACGGTTTGCCAAAATTTTCTCCTGCTTTGTGACCTGCCTTTCACTTTCTCAATGGTGTCCTTTGAAACACAAATGTTTTTAGCTTATGAGGATCCACTTTCTCTATTTTTCCTCTGGTTGCTGTGCTTTCGGTGACACATCTACGAAAAGTGCTGTCACTTGGCCAGCGGTTCCTAACTTTGCTTTCTCACAGTGCCCCAAGACATCCCATGGCCCATGGGCAAACTTCCTCTTAATGCGCAATGCAACCCTCCAGCGCTGCCAATCGCCTGGGGAGAGACCCTCCGGCGCCTCCAATCGCCTGGGGAGAGACCCTCTGGCTCCCGGAAGGCAGGGGTCCCATGGGTGGGGAGCTGCTGACTGTAGTGCAGTACCCAGCGGTGGTCCTGAGCTGGGTCCAGGCTGCGGGATAGTGCTCTGTGGTTGATTAGCAATGTCTGCCCCGGCAAGAGAGGAGTCTGCACCCTGCAGGCCACCCCCGGCTCCTGACTCTCCAGGCTGATCATCACTGTGCCCTGGTCGACTTGATGAGGAGAGGTGGCCTCGGGTGATGCACTGAGGCTCCACGCCCCCAGGGTGTGTTTGCCCCGCACAAGTATTGGGCCGTCTGTAGAGACTGTCTCCTGAGAACCACAGAGCCCCCAAGCCATCTTGTGCTGTCACCAAGGAAGAAACACGGAGGCCAGAGGCCTCTGCTGGGTGAACATTGCCCCCAAACCCATGTCCACCCACAACCTGTGAACATGGCCTGCTTTACAGACAGGGCCTTTGCAGGTGCAATTAGTTAAGATGAGATCAGGCTGGTGTCCTTATCAGAAGGGGGGATATGGGCAGACACACAGAGGAAGGGCAGGGCCACAGCAGAGATGGAGGCTGTGGCGATACAGGCACAGGCCACAGGCCAAGAGCGTCACAGAAGCCAGCATCCCCCAGAAGCAGGGAGGGGCAGCAGGGACCCTCCTGGAGCCTCAGGAGGAGCGTGGCCCTGCAACGCCTTGGTTTCAGGCTTCTGTATGGAGAGAACATTTGTCTCTTTTTGAAGTTCCCCAGTTTATGGCACTTTGTTCTGGAAGCCCCAGAGAACCCACATCACACTTGATAGTGTGCGTTCACTGCACAGCAGGGCTGCCTGAGCTGGACTCCCCAGGGCTGCTGCGTCCTGGAGGGGGCGTGCCTGCCTGAGCAGAGAAGTCACTCAGGTGCACTCCCAGAACTAGGAGGGCCACTGGAGCGAGAGTGGGAGCCAGGGAGGACAGGGTGGCGGGGGACATGGGGACAGGGTGGCAGGGGGATGTGGGGACAGGATGGCAGGGTGATCGGGGATAGGATAGCAGGGGATAGGATAGCAGGTGGCAGGGGGACAGACTGGCAGGGGAATGGGGGACAGGATGGCGGGGGATGGGGGACATGGTAGCAGAGGGATGGGGGACATGGTGGCAGGGGGATGGGGAACATGGTGGCAGGGGGATGGGGACATGGTGGCAGGGGGATGGGGGACAGGATGGCAGGGGGACGGGGGACATGGTGGCAGGGGAAGGGGGACATGGTGGCAGGGGGATGGGGACATGGTGGCAGGGGGATGGGGACATGGTGGCAGGGAGATGGGGGACATGGTGGCAGGGGGATGGCGACAGGATGGCAGGGGGATGGGGGACAGGATGGCAGGGGGATGGAGGACATAGTGGCAGGGGGATGGGGATGGTGGCAGGGGGATGGGGGACATGGTGGCAGGAGGATGGGGGACGTGGCAGGGGGATGGGGGACATGGCAGAGGGATGGGGAGACAGGATGGCAGAGGGAGGGGGGACATGGCAAGGGGATGAGGAGACAGGATGGCAGGGGGATGGGGGACAGACTGGCAGGGGGACGGGGGGACATGGTGGCAGGGGGATGGGGGGACATGGTGGCAGGGGGACGAGGGGGCAGGATGGCAGGGGGATGGGGAACATGGTGGCAGGAGGTCAGGGGACAGAGTGGCAGGGGGCCTGGCCATGGCAAAGCCCAGGTGCTTCACGGGGTGGCACAGTGTTGGGGACGGGCCACCCCTGCAGAGGGGAGCGAGTGGGCGGGCCTCTTTACTAAGATACAAACCTTGGTCATCTTCTGAGCATGCAGGGGACAGGTGCAATATTTTTAAGCAAGAGCAGTGCCAGGTCTGAGCCACGGACACCAGTCCTCTCTATAAAGTGAGTCAGCAAGCAAACAGCCCCCTCACCACCCCTTCTCCTCCTACCCCAGCCGACATGGCTGAGCCGGCACAGAGGTGCCTCCCCTGCACGGCAGTCCAGGCCGGCACGGCAGCTTAAGGAGTTCACCTGCAGAGCAGGGGGAGCCTGTTGTTCAGGCACAGAGCACCTCATAGGTGGGAGTGAGCCACGTGTACCAAACGAGGTGTTGTCATGGGCCAGGTGTCAAAGGCCAGGTGACATGAACAGGTATAATGGACCAGGTATCAAAGGCCAGTTATCATAAGCCAGATGTCATGCGTCAGGTGACATGAACAGGTGTCATGGGCCAGGCATCACAGGTCAGGCATCACAGACTAGGTATAAAGGGCCAGGTATAATGAACCAGGTGACATAGGCCAGACATCACGGGTCAGGTGTCATGGGTCAGGCCCACAAGAAGTTCTCGAAGCTTTGATAGGACTGGGGAGTGCTGGGCTTTGCAGCCAGAAAGTCTCCCAGGGAGGGTGCTGCCCAGCCCCACAGAGCTGAGGCCCAGAGGGAGGAAGGAACAACAGTGCAGGGCGGCGCAGCTTAACAGCCGGGAGCACAGAGGAGGCAGGTGCGTGGGGAGGAGTCCCGCTGGAACAGAATCCGCCTGCCTGGGCTGGGAATCAGCAGAGGGGAGGGTGGGTCAGAGGGGAGGGTGGGGCAGAGGAGAGGGAGAGGGTGATGCACAGGGAGGAGTTTACAGGCAGAGGTGTCAGGCAGAGCCACCCTGAGGGACCGTGAGAGGACTTGGGATGAGGACCTGCTAGGAGAGCCCGGGGGCCTAGCGTGGAGGAGGGCCTCGCAGAGAGCCCTGGGGGTTGGGGTAGCAAGGACCCTGCAGAGAGAGCCCGGGGCCCGGGCAAAGCGGTCCAGGCTGGCGTCTGGCTGGCAGCCCTCGCAGAGCTCCTGGCCCCCTCCTGAGCCACCTGAGCACCTCGTCTTCCCCCAGAGGTTCAGACCTCTCCTGTGAAGGTCCAGTAGCAAATCTCTCAGGCCTTGTGGGCCACACGTGGTCTCTGTCACACATCTCTACCTATTTTGTACAATCCTGTAAATGTGTAGAAGCCCTTCTTAGCTCACAGGCTGGACAACACCAGGTCTTGGGGTGTCCCTGTTCAATGCCCGCCTGGTGCACTGAATGCTGGGGGCCTGTACAGGGCCAGCCCCTCAGTCTATTCTCCAGGGCCCAGGAGGCGCATGGGCCAGGGCCTCCCACTGGGAACATGCGTTTGGAATCTTGCTCCTGGTGGCTGCTGGGACTCAGTTGCCCCTGCTGGGACGTGCTGGGCAGCGTGAGGCAGGGCCGGCCACTGTTGTGATCTCTCACCTGGGGGACTCATTCTGGGCCACCCTCCAGGTTTCCCAGGTCAAGCCGTCCTCCCCAGCTCTCTGACGTAATCCCAATTTCCTTTCGCATTGACTCTCAAGCCGTGCCCCAGAAAGCAGGCACCTGGGTTCCTAGCCATCCTAACTCCCGCACGGCTCACAGCTGGGACGGAGCCAGGGTGGCAGCAGGCAGGCCCTGCACACCTGCAGGTGGACTGGGTATCTCGGTTTTGCCATCTGCGGGGGCATGGATGCATGCTCCCTGAGGCAGGTGGTGCAGCGTCCACAGACTGGGGGTGGGGTTCAGATGAGCCAGGAAGGGTGTGCAGGGGAGGATGGCTGGGGGCTGCCATGCCCAGTGGGGGCTGGGCGGGTGACTGGATGAGCCTGAAGGACTTGGGGACCAAGGTCATGATGGGTCCAGGGCCAGGGCGAGAGCATCACCAAGGGCGCTGGCCATCTGGGAAGGCCGT	G	G88334974A	ZNF469	NC_000016.10:g.88334972_88341917del	noncoding	Pathogenic
16	88342674	GGGGGGACTGAGGCTGTGCCAGCAGGCGGTGGGCCTGCTTCTTTTCAAGGTGGCATCTGTTCTGCGTTGGGCCAGGTGGGAGAACGTGCATAAGTGTAAGACTCTAGCAGCCGCCTGATGCCAGCGTAGGGCGATGCCTGTCAATGACGCCAGCATAGGGCGATACCCGTCAAGCCCTTGTCGGGACCCAGTTGCAGGACGTCATGTGTATTTGGGTGGTGGGTCCCTGTGGGAGGTAACCCTCCCTCACCTGGAGGGGCACAGGGGCAGCAAGGCTGGGCTCAAGTCCTTCATGGCCACTGGATGAGCTTTGTGGGCAACTGCTGAGCTCCACGTGGTCCACAGGCAAAGCAGCGGGCAGATAGCACACGGGGACTGAGAAGCATAGGCGTCCTGTCTCACACCCCTTGTGGTCCATAGGCAAAGCAGCGGGAACATAGCACATGGGGACTGAGAAGCACAGGCATCCTGTCTCACACCTCTCATGCTCCTGGGTCCGTGGTAGCCCACCCTGCACTTGCTCTCCTGGACCTCCGTCCAGAGCTCAGGGCCACGGCTGAGATGGCATCCGGTGACAAAGTAAACATGGTATGGGGTTGTATGGGGTTAAAATCCCAAGGATAGAATAAACATCCACGAGCCCACAGTAACATAAAGTATCGAATGGATGAAATAAATAAATGGGGAAGAAAAGACACATCCCTCCCAAACAATGTACATAGACGCTTGCCCAGGAAGTAGCACAGAGCCGCCCGCCCACATGCAGCCTGCCCATCGTGACTTCTTCCTAAGAGCAGAGTGTGTGTCTTAGTCCATTTCTGCTGCTGTAGCTGAATCCCTGAGCCTGGGTAGTTTATAAAGGAAAGAAGTTTATTTCCCAGGGTTCTGGAGACTGGGAAGTCCAAGGTCGAGCGGCTGCCTCTGCTAAGGGCCTTCTTGCTGGTGGGGACTCTGCAGCATCTGAGGCAGCACAGGGCATCCATGGCAAGGGGGCTGAGCCTGGTGGCTCAGGTCTCTCTTCTCCTTCTTATGAAGCCACTAGTCCCACTCCTGTAATAACCCATGAATCCATGAATGGATTAATCCATTCATGAGGGCAGAGCCCTCTAATCACCTCTTAAAGGCCCCACCTCTCAAGACTGCCACAATATGGATTGAATTTCAACATGAGTTTTGCAGGGGACAAATATTCAAACCATGGCAATATGGGGAGATGGAAAGAGAGGGACTGCACAGTGGAGATGCTGACAAACACGACCTCGGCCAGGAGGTCAAGGTCATCCTTGACCATCATGAGTCCTTTTGATGGTGTGGATCCTGGACGGGACATGATCAGATGGGCACTTCACCCCTGGGGTCTCTGTCCCAAAAACCCATAACCCTCGTCTAATCATGAGAAAAACAGCAGAGAGTCTCAACAGGGAGAGACTCTACAAAACACCTGAGCGGTCCTCACAACGGTCAAGGTCATCAAAAACAAGGAGGGTCTGAGAATTTGTCACGGCCCAGAGGAGCCGAAGGAGACACGAGGATCCTGGATGGGATCCTGGGGCAGAGAAAGGGCATGGGGGGAGAAGAGGCGATGGGGGGGCGGGTTCCGAACAAAGCGTGGACTTCAGTTCATACCAACGTGTCGATGCTGGTTCCTTAGTTCTTGCTGGTGTCCACAGTGATGTGAGATGTTAACGGCAGGGGACCCTAAGTGAGGGGTGGACACAAACTCTCCATGCTGTCTTTGCAACCTTCATGTACATCTTCAACTGTTCTGAAATTAAGAGTTTATTGAAGAGCCATTGGGCTGGGTTGCAGTGCTGGGCACAGGGCCTGAGGCAGGTGCTCTGCAGAGTGAAAGTCCCCATGGGCTTCTGGCAGGGATGGGGTCAGTGTGAAGAGGGGCACATTGCACTGGGGGCCGGGACAGCCAGCTGTGTTTTGGCCCTGCCTCTGCTGCTGTGCACCCTCAGGCGGTGCCCGGGCCCTCTCTGGGCCTGTGACCACAGCTGTGCAAAGAGCGTGGGAAGCAGCTCTGCATATGGCCATGGTGGACCCAGGATGCAGCCGGAAGGTCCCCCAAAGTGCCTGGGTTCCTGGGAGGGGCCGCTATGGGTGTGTGCCCCGTGTCCCAGAGGCGAGACCGGGTCGGAACCCGAGTCTCCTCCCCAAACCACCACATTGGCTCTGGGTCCCGCGTGTCGAACCCGTCAGGTCGCCCTGCCTCCATCACCCGGCCTCTGGGATTTCCTGCAACCTTCCAGGTGTCAAGCGTGTGGCCCCGACATCCCTGACAATGTTGTATATCCATCACAGAAGTCGCCCTGACTTGGGGTTTGGCTGGTCAGGCCCAGAGCCCTACAGCAGGTTCTAGAAGGGCCTGAGAAGACCAGTCACCTCCTCCTCACCCGTTGTAAAGGTGACGTGAGCCTGGGATGGGGGGAGTGGATCCCGAGGTCATAGGGCATGTTGCTGACAGAGCCTGAATTGTCCAGCCAGCCCCCTCCCGGGCACCCAGGCCAGATGCTCCATTTCCATCCTTGCTCTTGAGTCCAAAAGGAGACCCTGGCATGGCGCCATCCACGCACACCTCGTGTGACCGTGGGACAGCTCTGTGCCTGTGCTGGCAACAAGCTGCCACCACACACAGGGCTTCTGAGCACCTGAGGCCTGGGTAGTGGTATCAAAAAACCAGATTTTTAATTGTACCTAATTTCAATTAACTTAAATGTAAGCAGCTCCGTGTGGCCCAGGGCTTCCTTATGGGACGGCACAGCCATGATGGCTACACACGCAAACGTTGGGTAGGTGACACCAGGAGCATGGGATCTGCACCAGGGCCCCTCTGTGGTCACTCACCATGAGATGTGGGCACGTCACTGCCCTCTGTAAGACGAGAGGCCTCTGCAGGCTGGCATGGCAGAACCCACACCTGGGCAGCTGTCCCCTCTGCCCGTGGGGTCGCCACGGGGTCCATTTCACACAAGCCCAGAGGGAGCCTCTGGCTCACCATGCAGGGAAGGGCGCTTTCCAAAGCCTTGCCTGCTTCCACCAAAACACTGGCTCCAGCTCTCCTCACGTGGATGGAACTCCCCCGGACTGGAAGAAGGAGGGTTTTACGAGAGTCAGCTTTTCATAGGGGAGAATGCTTGCCAGCCCGCCCGCCAGGCCCCACCGAGGCTGCCAGAGGTGACCTTCAGGCTTCAGCAACTCTGCCCTTCATCCAGAAGGATCTAGACCTGCTCCCTCGTCGAATATCACTACAATGACCTGGCATCGCATCACCCTGGAAGGACCAGAGGAAAATGGCGCCATCTGTTCCCATTATTCTTGGCGGGGGCAGGAGCGTGAGAGGTGGGGCTCTGGACCGGGTCAGGCTGTGAGCACACCACTCAGATTTCTGGCTAAAGTGCTGAACTTCACAGCCGAGAGCATTACAAAAGAATTTTTATTCCTTTCCTACTCTTCCTCCGTGGGTGCCCGACAGATATCTCCAGGGATGGGAGTTCTCGGCTCCATCCCAGGCCCGATTCTCCAGTGGTTTCCAGGATGTGGGGACGGCCGGTGCAGGCTGCTGGGTGAGGGAGAAGCATGGTCTCTGGCCCGTTCATCTCGGGAGAACCTCTGCTGACCACGAGGCCCTGCGAGTGTGCTGGGGACCCAGCTACGCTTGTCCACTAATCACCAAAACAGACCCCGGCTCCTGGCAGAACTCGCTGGGAAACTCCAGGTCGGCTGCCCGGAGCCCCTCCCTCCCAGCCCTGGCCTGGACCTGCACATGCAGCTCCCATGCCACCTCAAAGCCACAGAGCAAACCCTACAGCAGGACCGTTGCTCCTACTCTTATTTACTTTTATTTTTTTTATTTTTTAGAGACAGGGTCTCGCGCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATGTTGGCTCACCGCGGCCTGAACCTCCAGGCTCAAGCAATCCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTAATTTTTGTAGTGATGGAGTCTCGCTATGTTGCCCAGGCTGGACCTGTTCCTTCCTTTAAGAGGAAGTGGGGAGATGGGCGGCCCTGTGTGTGCGTCCCAAGCTGCTCAGGCAGCGAGCTGGCCCTGGACCTGCCCACTGCTGGACTTTCAGGTTCCCATTGTGTCCACGCTGCCACATCCTCCCTCAGACTTTCTTCAGAACCACAGAATGAAAATCGGCAGCCGGGAAGAACCAGCTGGCCTGGCCACCCTCGGGAGAAGGCCCTCGTTCCCAGGAGAGGCACACTGAGGTATTTAGCAAGAAATGTCATTCCTGCTGGTTCTGGGGGGAAGTAAGATAAATTCACAGGGAAAGAGCAGAAATGTGGTAATGTGTGAACAGGCCGTACGGCTGAGCTTGGGCGGTCTCAGCATGGTGTCACCTGTGTTGGTTTTGCTTCCCTGGGAGCAGGATGCCGGCCCTACCTCCTTCCCACCAAGCTGGGGACCCACACCTATGAGGCAATGCAGGAGGCCCCTGAACCTTTGGACGAGTGAGATCCCATGTTTTGGCTACATTCGATCCCCCAAAAGACGTCAGGGCCCCACCCCCACACCCGTGCACGGGCCCTTCTTTGGAAATAGGGGCTTTGCAGATGCTCAAGTGAAGACATGGTCATTAGGCCGGGTCCTAATTCACTAGCACTGTTATTCAAAGGTGAGATTTCCACTGAGCCGCGGGCACACCCAGAGAGACGGTCACACGTAGACACCCGGAGGAGACAGTGTCGCCAAGCCCAGGAGAGAGGCCCGGAGCAGACCCTCCCTCCTGACATCCGCAGGAACCAGCCCCACCATCTTCACTTTGGACTTCCAGCCTCCAGAACTGTGACGATAAACTCCCGTTTTAACCACACCATCTGTGATACTTGGTTATCATGGCCCCAGGAAACCCATCTGCCCCACATCCACCCCGATGTGAAGAACTGTGGGGAAGGCGGGGCCAGTCTCCTCCAATCACAGTGAAGAACCTGCACCTCACCCCTGCCTCTGGTCCTCCCATCTTCGCCTTTCCAGCCTTGGCTCAAATTCACCCCAAAGGCGTCTCAAGTCCTGGGCCACGCCCAGCACCCACCCGCCTCCTGGGACCATTGGATGTGTTTGGGCCTCCCAGGAAGATAGCAGAGTCCTGTGAGAGGTGTGCAGGGTACAGCTGGAGTAGGGGTGCCCCATGACCCCTGAGGAGGAGGATCTCAGACCAGGCAGGGCAGGGCTCTTCCCAGAGAGCTCCGCCAGGTGTCAGGAGCCCAGAGGCCCAAACGGTCTACCCTGCACCCCCACGTCCTCCTCGCTGTGGAAGCCTGGTGGGCGGAGCATGGTCGTGGTGGGCCAGGGACAGCAGCGGGTCGGAGCCTGAGTCTTCTGGGCTGGCCCACCTGCCCCTTCGCATCTGTGTGCGTCCCCTGGGGCTTCCCTGACAGCAGCAGCAGAAGCGATCCTTTCAGAGCTCTGGGGCCGGAAGTGCAAAGTCAAGGTGGCTCAGGGCCGCCTTCCTGCCTCTTCTGGCTCCTGGTGGCTGCGGGAGCTCCCTGACTTGTGGCCACATTGCTGCTGTCCCTGCCTCTGGCTTCACACTGCTGTCTCCCCTGTGCGTGCCTCTCGTTTCCCTGTCCTTGTAGGGACACCCATCATAAGATTCAGGGCCCCACCCCACTCCTGTGCGAACCCAGCTCCATGACACCAGAAAAGACTCTGGCTTCAAATAAGGCCACACCAACAGGTCCCCAGGGTTGGGACATGGGCATATCCCTCAGGGGCCACCATTGCACCTGCCTCAAGACCCCGCCACCCTCAGCCCCAGAACTGGGATGACCTGCTGATTTGCCCACACGGGGGAGCTGTACAGGGAGTGGGGGTCCAACAGTGTCCCAGTGGACCGGGTCAAACAGGTGA	G	G88342678A	ZNF469	NC_000016.10:g.88342675_88348623del	noncoding	Pathogenic
16	88427924	A	AC	A88427931C	ZNF469	NM_001367624.2(ZNF469):c.460dup:p.Gln154fs	coding	Pathogenic
16	88429426	G	GC	A88429434C	ZNF469	NM_001367624.2(ZNF469):c.1963dup:p.His655fs	coding	Pathogenic
16	88429662	TG	T	G88429663A	ZNF469	NM_001367624.2(ZNF469):c.2193del:p.Thr732fs	coding	Pathogenic
16	88429906	GAGGAC	G	A88429910C	ZNF469	NM_001367624.2(ZNF469):c.2440_2444del:p.Thr814fs	coding	Pathogenic
16	88430089	TTCCGGCCCCAGAGGTCCCAGC	T	C88430095A	ZNF469	NM_001367624.2(ZNF469):c.2625_2645del:p.Pro876_Gly882del	coding	Benign/Likely_benign
16	88431889	TGC	GGT	T88431889G	ZNF469	NM_001367624.2(ZNF469):c.4419_4421delinsGGT:p.Ala1474Val	coding	Benign
16	88433130	CCCACCCTA	C	C88433131G	ZNF469	NM_001367624.2(ZNF469):c.5661_5668del:p.His1888fs	coding	Pathogenic
16	88434247	GAA	AAG	G88434247A	ZNF469	NM_001367624.2(ZNF469):c.6777_6779delinsAAG:p.Lys2260Arg	coding	Benign
16	88436095	GCA	ACG	G88436095A	ZNF469	NM_001367624.2(ZNF469):c.8625_8627delinsACG:p.His2876Arg	coding	Benign
16	88436563	GCTTCCCGGGAACACC	G	T88436565A	ZNF469	NM_001367624.2(ZNF469):c.9095_9109del:p.Leu3032_Thr3036del	coding	Benign/Likely_benign
16	88436709	G	GCACGGCGAGCTCACAGGGGC	A88436733G	ZNF469	NM_001367624.2(ZNF469):c.9243_9262dup:p.Gln3088fs	coding	Pathogenic
16	88437080	AG	A	G88437085C	ZNF469	NM_001367624.2(ZNF469):c.9615del:p.Gln3206fs	coding	Pathogenic
16	88646839	CT	C	T88646840G	CYBA	NM_000101.4(CYBA):c.204-2del	coding	Pathogenic
16	88647137	C	CG	T88647143G	CYBA	NM_000101.4(CYBA):c.166dup:p.Arg56fs	coding	Pathogenic
16	88648095	GA	G	A88648096T	CYBA	NM_000101.4(CYBA):c.77del:p.Ile26fs	coding	Pathogenic
16	88648413	AC	A	C88648418T	CYBA	NM_000101.4(CYBA):c.59-300del	noncoding	Benign
16	88658648	AC	A	C88658650T	MVD	NM_002461.3(MVD):c.141+1del	noncoding	Pathogenic
16	88712915	CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT	C	C88712926T	CTU2	NM_001012759.3(CTU2):c.737+21_737+63del	noncoding	Benign
16	88712920	GC	G	C88712926T	CTU2	NM_001012759.3(CTU2):c.737+21del	noncoding	Benign
16	88712921	C	CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG	C88712926T	CTU2	NM_001012759.3(CTU2):c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC	noncoding	Benign
16	88714226	AGGTGTG	A	G88714233T	CTU2	NM_001012759.3(CTU2):c.1097+6_1097+11del	coding	Benign
16	88714227	GGTGTGGGTGT	G	T88714241C	CTU2	NM_001012759.3(CTU2):c.1097+14_1097+23del	coding	Benign
16	88714976	C	CCGT	A88714981G	PIEZO1	NM_001012759.3(CTU2):c.1419+52_1419+54dup	noncoding	Benign
16	88714976	C	CTGT	C88714977T	PIEZO1	NM_001012759.3(CTU2):c.1419+50_1419+51insTGT	noncoding	Benign
16	88715911	GC	G	C88715918A	PIEZO1	NM_001142864.4(PIEZO1):c.7316+21del	noncoding	Benign
16	88721201	TT	C	T88721201C	PIEZO1	NM_001142864.4(PIEZO1):c.5632_5633delinsG:p.Lys1878fs	coding	Pathogenic
16	88723080	C	CCCGGG	C88723088G	PIEZO1	NM_001142864.4(PIEZO1):c.4495+10_4495+14dup	noncoding	Benign
16	88724819	GGA	G	A88724823G	PIEZO1	NM_001142864.4(PIEZO1):c.4234+188_4234+189del	noncoding	Benign
16	88726660	T	TCAGCGGGGC	C88726680A	PIEZO1	NM_001142864.4(PIEZO1):c.3700-35GCCCCGCTG[3]	noncoding	Benign
16	88726694	GC	CG	G88726694C	PIEZO1	NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG	noncoding	Benign
16	88726694	GC	G	C88726695G	PIEZO1	NM_001142864.4(PIEZO1):c.3699+20del	noncoding	Benign
16	88734137	CGCTTCT	C	T88734141G	PIEZO1	NM_001142864.4(PIEZO1):c.2181-89_2181-84del	noncoding	Benign
16	88736167	CA	C	A88736168G	PIEZO1	NM_001142864.4(PIEZO1):c.1537del:p.Cys513fs	coding	Pathogenic
16	88736406	TACCTGCGCGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAGGCGATGCCCCAC	T	A88736422G	PIEZO1	NM_001142864.4(PIEZO1):c.1297-59_1298del	coding	Benign/Likely_benign
16	88737517	G	GC	G88737524C	PIEZO1	NM_001142864.4(PIEZO1):c.1195+36dup	noncoding	Benign
16	88738516	TC	T	C88738519A	PIEZO1	NM_001142864.4(PIEZO1):c.634+51del	coding	Benign
16	88738575	TGCAA	T	A88738579G	PIEZO1	NM_001142864.4(PIEZO1):c.623_626del:p.Leu208fs	coding	Pathogenic
16	88804911	TG	T	G88804914C	CDT1	NM_030928.4(CDT1):c.488+16del	noncoding	Benign
16	88806627	ACTG	A	G88806630C	CDT1	NM_030928.4(CDT1):c.1078_1080del:p.Ala360del	coding	Pathogenic
16	88809365	TCTG	T	C88809369G	APRT	NM_000485.3(APRT):c.*327CAG[1]	noncoding	Benign
16	88809710	CAGGAG	C	G88809713A	APRT	NM_000485.3(APRT):c.526_530del:p.Leu176fs	coding	Pathogenic
16	88809716	AGAG	A	G88809717A	APRT	NM_000485.3(APRT):c.522_524del:p.Ser175del	coding	Pathogenic
16	88809730	CA	C	A88809731G	APRT	NM_000485.3(APRT):c.510del:p.Val171fs	coding	Pathogenic
16	88809766	GCTC	G	T88809768A	APRT	NM_000485.3(APRT):c.472_474del:p.Glu158del	coding	Pathogenic
16	88809778	TCA	T	A88809780G	APRT	NM_000485.3(APRT):c.461_462del:p.Val154fs	coding	Pathogenic
16	88810447	GGCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC	G	C88810449G	APRT	NM_000485.3(APRT):c.188-145_296del	coding	Pathogenic
16	88810448	GCCCACAGAGTGGGGCCTGGCAGCTTCCCCCGCTTTCGGATGAGCACGCAGCCCAGTCCAAGCTCCTGGGCCAGGGAGGGGCCAAAGAGGAAGCCTCGGGAGTCTAGGCCTGTCAGGGTAAGTGACAGGAGTGACTCGGCAGCATGGGAATCCCCAGGGGCCAGGGTTGGCCGGTGGCAAGGGGTACCTGGTTGGCTCCCAGCTGAAAGGCCAGTGACATGCACCATTTAAGGAATGTTACCCATCACCTACCC	TACGGGAA	G88810448T	APRT	NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA	coding	Pathogenic
16	88810453	CAG	C	A88810456T	APRT	NM_000485.3(APRT):c.289_290del:p.Leu97fs	coding	Pathogenic
16	88810456	AGT	A	T88810458G	APRT	NM_000485.3(APRT):c.286_287del:p.Thr96fs	coding	Pathogenic
16	88810460	GGGCCT	G	C88810464A	APRT	NM_000485.3(APRT):c.279_283del:p.Gly94fs	coding	Pathogenic
16	88810473	TC	T	C88810478G	APRT	NM_000485.3(APRT):c.270del:p.Lys91fs	coding	Pathogenic
16	88811527	AGATGCGGCCACTGGGCACTCGCCTGC	A	C88811532T	APRT	NM_000485.3(APRT):c.184_187+22del	noncoding	Pathogenic
16	88811556	T	TA	G88811557A	APRT	NM_000485.3(APRT):c.180_181insT:p.Ile61fs	coding	Pathogenic
16	88811876	C	CA	G88811878A	APRT	NM_000485.3(APRT):c.23dup:p.Val9fs	coding	Pathogenic
16	88822633	CA	C	A88822634G	GALNS	NM_000512.5(GALNS):c.1319del:p.Leu440fs	coding	Pathogenic
16	88822673	AC	A	C88822677T	GALNS	NM_000512.5(GALNS):c.1279del:p.Val427fs	coding	Pathogenic
16	88822693	AG	A	G88822696C	GALNS	NM_000512.5(GALNS):c.1259del:p.Pro420fs	coding	Pathogenic
16	88824831	G	GA	C88824832A	GALNS	NM_000512.5(GALNS):c.1177_1178insT:p.Ala393fs	coding	Pathogenic
16	88824840	AG	A	G88824841C	GALNS	NM_000512.5(GALNS):c.1168del:p.Thr389_Leu390insTer	coding	Pathogenic
16	88824866	AG	A	G88824868C	GALNS	NM_000512.5(GALNS):c.1142del:p.Pro381fs	coding	Pathogenic
16	88826726	AG	A	G88826729T	GALNS	NM_000512.5(GALNS):c.1114del:p.Leu372fs	coding	Pathogenic
16	88828699	TTGGCATTTTTCTCAGCTGGAGCCTTTCCGTGGGCAGGTGGGTGGGGAGGTCTGTGGGGTACAGACGTCCCTGAACCCACTACGCATGGAGCCGGGCGGCGCTGGGGTGGCTCCCCTCACCTTTTCCAGGCTGCTGCTGAGCACAGCCACGGGTGGCTCCCAGCCTGGGGAGCAGAGCCCCAGCCCTGTCCCGGCCTGGTGGGCACCCACTGCAGTGGGGAACCTCACATCTCCCAGACCTACGCAGGTCCCGAGTCTCATGCCATCGTCTCCCAGACCTACGCGGGTCCCGGGTCTCACGCCATCGTCTCCCAGACCTACGCGGGTCCCGAGTCTCACGCCAACGTCTCCCAGAGCTACACGGGTCCCGAGTCTCATGCCAACGTCTCCCAGAGCTACACAGTTCCTGAGTCTCATGCCAACGTCTCCCAGAGCTACGCGGGTCCCGAGTCTCATGCCAACGTCTCCCAGAGCTACACAGTTCCTGAGTCTCATGCCAACGTCACAGTGTTCACTGAGTGACCACCGGCCACTCCCTGCAGGTGCCCCCACACAAGAAACCAAATGGCCCATCCCTACCCTCAGGGGGATGGCGCTCAGGGGAGTGGAGGGGGCGGCACAGCTGCATTCTGTCCTAGGGGCACCCCACACCACAAAGGAGGCCGTGCCCACCACCCATGCTTCTCCTGCACAACAAGGCGGTCACTCTCACAGCCACTCTGCCCTTCACACGGAGCCGCAGCTGCCTTTTCAGTGAACCGTGGGGTCTCTTCCACCTTCAGGGTCCTGGGAACTTGGGGTGGCCCAGGAGTCCCATGTCAGACAAAGGCTGCCCTGGGCAGGGTCTGAGGGAGGCCCAGACAGCTGTAGAGAACAGGCGCCCTTGGCAGTTGCCGCCCCCAGTCCCACTGGCTGCTGGGGACACAGGGGACTGCCCAGGCATGGTGGGCAGGAGTGCAGGATCCACAGCCAGGCGCCTGCTCCCACCTCTGCTCCCTAGTAATTGGGGGACCCTGACAGACGACTTCCTCTCTGGCCTCAGTTTCCTGATGTGTAGAATGAGTGGGGAAGAGGAGGATCTGGCAGAACAGCAGCCAATCCCTGGGCCTTCAGGCGCGCGACCAGGCCAGGCAATTGAGGCGGCAGACACAACGCAGGCCGCTCATCAGCGAGGCTCGAAACAGGGAGGCCAGCCTGGGTGAGCAGGGGGTGGGGTGGGACACAGCCACAGGGTCCTCAAAAGTGGAACAGGCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGAACATCTCCTGGAGCCTCCAGAAGGAGCTGGCCCCACGCACGTCTTCACTCAGCCCCATGAGCCCCATGTTGACTCTGGCTGTCGTCATGTGTGATGTTCCAGCTGCCACTGGGAGCCCCCCCCATCCTCGTGGGGCCACTTGAAGGGGATGGCTGCCTCTGGAGGCCATTGGGAGGGCAAAAGACTAAGAAACAGTGAAGAAACAGCGGTCGTTTACAAACACCAGACTCAGCCCCGCGTGTTGATGGGTATGTCTGGCTCAAGTGCCTGTTACAGAAGACCACACGGTGTGATTCTCAACCGAGGGGCAGCTTCCTGGGCCAGAGGAGATGCAGTGACAGCATGAAGGTGGTCACACTGAGATGGCAGGGCGCACCCTCGCCCAGCCAGGACCCAGGCCACCACCGAGGTCCGCACCCCATGCGGCAGACAGACACCAACGGTCTCGTGTCGGGCTGCTGCTGTTCTCTGAGTGTCCTTAGGACACTGGCCTGAGAAGATGTGCTTTGGGGGAAAAAACGACCGATTCTGTAGTAGACAGACAGGTTTTTAAACACTCAGCCTGCTCTAAGCCCCTTCTAGAAGCTCATGGTGCCCACCAGCATGCTAAAGGCACTGATAAGTCCTGCAGGGAAGAAACCTGTTTAGCTCCATTTAACTCAGGACTGCTGCGGTGACTGGACCACGGATGTCTCCTCACCACACAGTCATTACCAGCACCCACGTGACACACGGCAGTATACGTGGCTCCAGTCCCCACCGAGAGCCTTCCTGCCTGTCTGACCAAGCACAGCAAGCCCTACACACCGAGAGCCACCGAGAGGGACCTGGTTCCGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACAGGGTGCGTGGGGAGGAGAGCGGTGAGGATGAGCACGGGGTGCATGGGGGAGGTGGCCAGTGAGGGGCGCACACACCCTGGGATGGCTGCAGGCCTGGACCTGCTGCCCGGCAGACCGGTGGACGCTGACTCACCTGGCCTGCAGTGACGTGCCCTGGCCACCATGCGAGGGCAGGCTCCCTCATCCCTCCTTCAAACGTGGTCTGCTTCCCACACAGAAAGGGGCCGTTGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCCCACTGAGTCACTGAGACTGGTCATAGGGACAAAGGGCCCGGCCAAGGCACTCTGGCTGGAGTGCATGATCCGAGCCTCGGGGTGGCTCTCCAGGGGCTCATCTGAGATGCCGCGGCTGCAAAGTCTCCTGGAGAAAGTGGGGACATCATGCCCACTGAGGAAATGGAAACACAACCATACGGTGTCAGCAAGACTCAGAGAGGTACACTCCCGCAGCAGAGGCCCTGGGTGCCACGTGCGCAGCTGCCGACTGGTGCTTCCCGAACGTGAATGTTCACAAGCCTCCCGGTGTTTGGGGTACTTAAAATGCAGCCAACTTCTGGCCTCCCCA	T	C88828703T	GALNS	NM_000512.5(GALNS):c.899-397_1003-1862del	noncoding	Pathogenic
16	88832100	AC	A	C88832102T	GALNS	NC_000016.9:g.88898509del	coding	Pathogenic
16	88834983	CCT	C	C88834984G	GALNS	NM_000512.5(GALNS):c.898+228_898+229del	noncoding	Benign
16	88835236	GC	G	C88835237A	GALNS	NM_000512.5(GALNS):c.874del:p.Ala292fs	coding	Pathogenic
16	88835243	CGTTGTCCGACGTGAAGAAGACGAAGGT	C	A88835252C	GALNS	NM_000512.5(GALNS):c.841_867del:p.Thr281_Asn289del	coding	Pathogenic
16	88835247	GT	G	T88835248C	GALNS	NM_000512.5(GALNS):c.863del:p.Asp288fs	coding	Pathogenic
16	88835255	TGAA	T	A88835261C	GALNS	NM_000512.5(GALNS):c.850TTC[1]:p.Phe285del	coding	Pathogenic/Likely_pathogenic
16	88835768	C	CGGGT	C88835774G	GALNS	NM_000512.5(GALNS):c.711_714dup:p.Val239fs	coding	Pathogenic
16	88835774	CG	C	G88835775T	GALNS	NM_000512.5(GALNS):c.708del:p.His236fs	coding	Pathogenic
16	88835831	T	TC	A88835832C	GALNS	NM_000512.5(GALNS):c.651_652insG:p.Lys218fs	coding	Pathogenic
16	88836229	TC	T	C88836234G	GALNS	NM_000512.5(GALNS):c.604del:p.Glu202fs	coding	Pathogenic
16	88840983	GAGACTTA	G	A88840984C	GALNS	NM_000512.5(GALNS):c.422+2_422+8del	noncoding	Pathogenic
16	88841039	CG	C	G88841041C	GALNS	NM_000512.5(GALNS):c.374del:p.Pro125fs	coding	Pathogenic
16	88841079	TC	T	C88841081T	GALNS	NM_000512.5(GALNS):c.334del:p.Glu112fs	coding	Pathogenic
16	88842713	GCA	G	C88842716G	GALNS	NM_000512.5(GALNS):c.235_236del:p.Cys79fs	coding	Pathogenic
16	88856761	GTC	G	T88856762C	GALNS	NM_000512.5(GALNS):c.115_116del:p.Asp39fs	coding	Pathogenic
16	89100695	TG	T	G89100697T	ACSF3	NM_001243279.3(ACSF3):c.16del:p.Val6fs	coding	Pathogenic
16	89100811	GC	G	C89100815G	ACSF3	NM_001243279.3(ACSF3):c.134del:p.Pro45fs	coding	Pathogenic
16	89100832	CTGGCCTT	C	C89100836G	ACSF3	NM_001243279.3(ACSF3):c.155_161del:p.Ala52fs	coding	Pathogenic
16	89100866	A	AGCACGGCCGCC	A89100878G	ACSF3	NM_001243279.3(ACSF3):c.186_196dup:p.His66fs	coding	Pathogenic
16	89101323	CACGCA	C	A89101324C	ACSF3	NM_001243279.3(ACSF3):c.643_647del:p.Thr215fs	coding	Pathogenic
16	89102693	C	CG	C89102695G	ACSF3	NM_001243279.3(ACSF3):c.757dup:p.Ala253fs	coding	Pathogenic
16	89112090	AG	A	G89112092T	ACSF3	NC_000016.9:g.89178499del	noncoding	Pathogenic
16	89114361	GC	G	C89114364T	ACSF3	NM_001243279.3(ACSF3):c.1003del:p.Leu335fs	coding	Pathogenic
16	89114464	TG	T	G89114465A	ACSF3	NM_001243279.3(ACSF3):c.1104del:p.Thr369fs	coding	Pathogenic
16	89114470	CT	C	T89114471G	ACSF3	NM_001243279.3(ACSF3):c.1110del:p.Ala371fs	coding	Pathogenic
16	89120854	CCA	C	C89120857G	ACSF3	NM_001243279.3(ACSF3):c.1183_1184del:p.Gln395fs	coding	Pathogenic
16	89133161	AG	A	G89133166A	ACSF3	NM_001243279.3(ACSF3):c.1270del:p.Glu424fs	coding	Pathogenic
16	89133191	TG	T	G89133192T	ACSF3	NM_001243279.3(ACSF3):c.1296del:p.Arg434fs	coding	Pathogenic
16	89133223	AC	A	C89133224T	ACSF3	NM_001243279.3(ACSF3):c.1328del:p.Thr443fs	coding	Pathogenic
16	89133224	C	CT	A89133226T	ACSF3	NM_001243279.3(ACSF3):c.1329dup:p.Lys444Ter	coding	Pathogenic
16	89145276	T	TG	T89145279G	ACSF3	NM_001243279.3(ACSF3):c.1378dup:p.Val460fs	coding	Pathogenic/Likely_pathogenic
16	89145922	GTTC	G	T89145927A	ACSF3	NM_001243279.3(ACSF3):c.1502-11_1502-9del	noncoding	Benign
16	89146042	TG	T	G89146045C	ACSF3	NM_001243279.3(ACSF3):c.1609del:p.Ala537fs	coding	Pathogenic
16	89154099	G	GCAGAT	G89154100C	ACSF3	NM_001243279.3(ACSF3):c.1623_1624insCAGAT:p.Ala542fs	coding	Pathogenic
16	89274890	G	GC	G89274892C	ANKRD11	NM_013275.6(ANKRD11):c.7636dup:p.Ala2546fs	coding	Pathogenic
16	89274897	TCCTGGCCGCCCGG	T	C89274899A	ANKRD11	NM_013275.6(ANKRD11):c.7617_7629del:p.His2538_Cys2539insTer	coding	Pathogenic
16	89279185	T	TG	C89279187G	ANKRD11	NM_013275.6(ANKRD11):c.7356dup:p.Lys2453fs	coding	Pathogenic
16	89279390	CG	C	G89279392A	ANKRD11	NM_013275.6(ANKRD11):c.7151del:p.Pro2384fs	coding	Pathogenic
16	89279479	A	AG	C89279486G	ANKRD11	NM_013275.6(ANKRD11):c.7062dup:p.Ser2355fs	coding	Pathogenic
16	89279491	CCTG	C	G89279494T	ANKRD11	NM_013275.6(ANKRD11):c.7048_7050del:p.Gln2350del	coding	Pathogenic
16	89279605	CCGGCTGGATGCCGCCAGGAGGGCCTT	C	A89279613G	ANKRD11	NM_013275.6(ANKRD11):c.6911_6936del:p.Glu2304fs	coding	Pathogenic
16	89279607	GGCTGGAT	G	T89279610C	ANKRD11	NM_013275.6(ANKRD11):c.6928_6934del:p.Ile2310fs	coding	Pathogenic
16	89279618	GC	G	C89279620A	ANKRD11	NM_013275.6(ANKRD11):c.6923del:p.Gly2308fs	coding	Pathogenic
16	89279748	GC	G	C89279749G	ANKRD11	NM_013275.6(ANKRD11):c.6793del:p.Ala2265fs	coding	Pathogenic
16	89279769	G	GC	T89279775C	ANKRD11	NM_013275.6(ANKRD11):c.6772dup:p.Ala2258fs	coding	Pathogenic
16	89279932	C	CGAGCTCTGCAGGGAGCCGGGTGGAGGCCTGGTCAGGAGGCA	T89279975A	ANKRD11	NM_013275.6(ANKRD11):c.6569_6609dup:p.Glu2204fs	coding	Pathogenic
16	89279945	G	GT	A89279946T	ANKRD11	NM_013275.6(ANKRD11):c.6596_6597insA:p.Ala2201fs	coding	Pathogenic
16	89279983	G	GCTCCTCA	G89279991C	ANKRD11	NM_013275.6(ANKRD11):c.6552_6558dup:p.Pro2187Ter	coding	Pathogenic
16	89280076	CG	C	G89280079T	ANKRD11	NM_013275.6(ANKRD11):c.6465del:p.Val2156fs	coding	Pathogenic
16	89280139	GC	G	C89280143A	ANKRD11	NM_013275.6(ANKRD11):c.6402del:p.Phe2136fs	coding	Pathogenic
16	89280221	G	GC	G89280223C	ANKRD11	NM_013275.6(ANKRD11):c.6320dup:p.Gly2108fs	coding	Pathogenic
16	89280775	TGGCGGCCGTCGCCTGCTGGTCCTCGGAG	T	G89280777T	ANKRD11	NM_013275.6(ANKRD11):c.5739_5766del:p.Glu1915fs	coding	Pathogenic
16	89280890	TGAGAA	T	G89280893C	ANKRD11	NM_013275.6(ANKRD11):c.5647_5651del:p.Phe1883fs	coding	Pathogenic
16	89281046	CCT	C	C89281047G	ANKRD11	NM_013275.6(ANKRD11):c.5494_5495del:p.Arg1832fs	coding	Pathogenic
16	89281094	AG	A	G89281096A	ANKRD11	NM_013275.6(ANKRD11):c.5447del:p.Pro1816fs	coding	Pathogenic
16	89281197	GGCCTGGCAGGA	G	A89281205T	ANKRD11	NM_013275.6(ANKRD11):c.5334_5344del:p.Pro1779fs	coding	Pathogenic
16	89281367	C	CG	T89281372G	ANKRD11	NM_013275.6(ANKRD11):c.5174dup:p.Ser1726fs	coding	Pathogenic
16	89281424	A	AG	T89281429G	ANKRD11	NM_013275.6(ANKRD11):c.5117dup:p.Thr1707fs	coding	Pathogenic
16	89281424	AG	A	G89281428T	ANKRD11	NM_013275.6(ANKRD11):c.5117del:p.Pro1706fs	coding	Pathogenic
16	89281916	CTT	C	T89281919C	ANKRD11	NM_013275.6(ANKRD11):c.4624_4625del:p.Lys1542fs	coding	Pathogenic
16	89281917	TTTTC	T	T89281923C	ANKRD11	NM_013275.6(ANKRD11):c.4621_4624del:p.Glu1541fs	coding	Pathogenic
16	89282051	CCT	C	C89282052G	ANKRD11	NM_013275.6(ANKRD11):c.4489_4490del:p.Arg1497fs	coding	Pathogenic
16	89282144	CCT	C	C89282145G	ANKRD11	NM_013275.6(ANKRD11):c.4396_4397del:p.Arg1466fs	coding	Pathogenic
16	89282159	CTT	C	T89282160C	ANKRD11	NM_013275.6(ANKRD11):c.4381_4382del:p.Lys1461fs	coding	Pathogenic
16	89282170	CTT	C	T89282173A	ANKRD11	NM_013275.6(ANKRD11):c.4370_4371del:p.Lys1457fs	coding	Pathogenic
16	89282352	AG	A	G89282354A	ANKRD11	NM_013275.6(ANKRD11):c.4189del:p.Leu1397fs	coding	Pathogenic
16	89282483	GGAGT	G	A89282485T	ANKRD11	NM_013275.6(ANKRD11):c.4055_4058del:p.His1352fs	coding	Pathogenic
16	89282653	T	TG	A89282656G	ANKRD11	NM_013275.6(ANKRD11):c.3888dup:p.Asn1297fs	coding	Pathogenic
16	89282698	C	CA	G89282701A	ANKRD11	NM_013275.6(ANKRD11):c.3843dup:p.Glu1282Ter	coding	Pathogenic
16	89282753	TTC	T	C89282755T	ANKRD11	NM_013275.6(ANKRD11):c.3787_3788del:p.Glu1263fs	coding	Pathogenic/Likely_pathogenic
16	89282766	TTC	T	C89282770T	ANKRD11	NM_013275.6(ANKRD11):c.3774_3775del:p.Lys1259fs	coding	Pathogenic
16	89282772	TTG	T	G89282776T	ANKRD11	NM_013275.6(ANKRD11):c.3768_3769del:p.His1256fs	coding	Pathogenic
16	89282844	TTCTTA	T	A89282849G	ANKRD11	NM_013275.6(ANKRD11):c.3693_3697del:p.Asp1231fs	coding	Pathogenic
16	89282947	CTTTT	C	T89282950G	ANKRD11	NM_013275.6(ANKRD11):c.3591_3594del:p.Lys1198fs	coding	Pathogenic
16	89283169	CCTCA	C	A89283173T	ANKRD11	NM_013275.6(ANKRD11):c.3369_3372del:p.Ser1123fs	coding	Pathogenic
16	89283219	CCTTT	C	T89283223G	ANKRD11	NM_013275.6(ANKRD11):c.3319_3322del:p.Lys1107fs	coding	Pathogenic
16	89283414	AG	A	G89283416A	ANKRD11	NM_013275.6(ANKRD11):c.3127del:p.Leu1043fs	coding	Pathogenic
16	89283748	C	CA	G89283750A	ANKRD11	NM_013275.6(ANKRD11):c.2793dup:p.Gly932fs	coding	Pathogenic
16	89283978	TC	T	C89283982T	ANKRD11	NM_013275.6(ANKRD11):c.2563del:p.Glu855fs	coding	Pathogenic
16	89283985	TGAAA	T	G89283986T	ANKRD11	NM_013275.6(ANKRD11):c.2553_2556del:p.Asp851fs	coding	Pathogenic
16	89284139	TTTTTC	T	T89284143A	ANKRD11	NM_013275.6(ANKRD11):c.2398_2402del:p.Glu800fs	coding	Pathogenic
16	89284252	CCT	C	C89284255T	ANKRD11	NM_013275.6(ANKRD11):c.2288_2289del:p.Glu763fs	coding	Pathogenic
16	89284268	C	CA	G89284270A	ANKRD11	NM_013275.6(ANKRD11):c.2273dup:p.Arg759fs	coding	Pathogenic
16	89284363	CTT	C	T89284365G	ANKRD11	NM_013275.6(ANKRD11):c.2177_2178del:p.Lys726fs	coding	Pathogenic
16	89284375	C	CT	G89284379T	ANKRD11	NM_013275.6(ANKRD11):c.2166dup:p.Asp723fs	coding	Pathogenic
16	89284486	CTT	C	T89284489A	ANKRD11	NM_013275.6(ANKRD11):c.2054_2055del:p.Lys685fs	coding	Pathogenic
16	89284637	TTTTG	T	G89284641T	ANKRD11	NM_013275.6(ANKRD11):c.1901_1904del:p.Thr634fs	coding	Pathogenic
16	89284648	GT	G	T89284654G	ANKRD11	NM_013275.6(ANKRD11):c.1893del:p.Lys631fs	coding	Pathogenic
16	89284798	CAG	C	A89284801G	ANKRD11	NM_013275.6(ANKRD11):c.1742_1743del:p.Ser580_Ser581insTer	coding	Pathogenic
16	89284983	GC	G	C89284984A	ANKRD11	NM_013275.6(ANKRD11):c.1558del:p.Ala520fs	coding	Pathogenic
16	89285005	A	AG	T89285010G	ANKRD11	NM_013275.6(ANKRD11):c.1536dup:p.Ser513fs	coding	Pathogenic
16	89285018	CA	C	A89285019C	ANKRD11	NM_013275.6(ANKRD11):c.1523del:p.Val508fs	coding	Pathogenic
16	89285152	CTT	C	T89285155G	ANKRD11	NM_013275.6(ANKRD11):c.1388_1389del:p.Lys463fs	coding	Pathogenic
16	89285548	TGGCCTTGTGCTTGA	T	G89285555T	ANKRD11	NM_013275.6(ANKRD11):c.980_993del:p.Leu327fs	coding	Pathogenic
16	89285626	GT	G	T89285627G	ANKRD11	NM_013275.6(ANKRD11):c.915del:p.Pro306fs	coding	Pathogenic
16	89288630	G	GT	A89288632T	ANKRD11	NM_013275.6(ANKRD11):c.641dup:p.Tyr214Ter	coding	Pathogenic
16	89304970	GT	G	T89304971G	ANKRD11	NM_013275.6(ANKRD11):c.226+235del	noncoding	Benign
16	89488929	GCATGTTACATAGAAGGAAAACAGTTTCAAAGCATAGGGAGCTGTTAGACCAGCTTCATCTTCCCAAGCCTCTTCCAAAACTTCTTGGAAGCTGATATATAACACTAACCTTCCAAAAACACAACAGAAGCAGAAAATCTTAATGGGGCACCAGGAAAAGAGCAAGCCTCGAGAAAAATCAAGACTCCCCCCGACCAACCTTCCCAAATAACACAAACACAAGAGTTAACAGTACAATCCCTCTTTGAGAGGGGACTGAATCAATGTGGCAGGGCCAACCCTACACACACACACACACGCGCGCGCGCGCGCGCGCGCACACACATACACCACACACACAGCTACCGCCCTGCCAGGGGATGATGAAATGAGGAACGGAAATTAACATTTCAGGCAACGTCTCACATTGTTCCTTGAGGCCAAGGGCTGCTGTTGCAGCCGCCACCGCCACCGCTTTCCTCCCAGCCACCCCCCACACCCGCCCGCCTACCCTCCCCCTAACACCCCCCACACGGCTGCCCGCATTCCTGCCCCTCCTCGGCCTACGCGCGCCTCCTGCAACCCCGACGCCCCCAGGTCCCCAGTTCGCCCTCCCCCTCCGGCTCGGAGCCCGAGAGCCGCCTGCTCTCATTTCAAAACAGCGATAATAATAGGGACGCTGAGAATAACAACTACGACCAGCA	G	A89488931G	ANKRD11	NM_013275.6(ANKRD11):c.-145+634_-145+1315del	noncoding	Pathogenic
16	89490141	CCGCGGCGCAGCTCCGT	C	G89490145C	ANKRD11	NM_013275.6(ANKRD11):c.-145+88_-145+103del	noncoding	Pathogenic
16	89490207	GCCCCGACCACCGCCCCCAGACCAGCGGCGCCTCTCACCGTGCTCCGAGGGCTGCGCGGCTCCGCGACGGCTCAGCGGCGGGGCGCGGGCGCTGCCCATGCAGCCCGCGGCCGCGTTTCCCGGGCCGCGCGGCCCGAGCGGCAAGGCGGCGGCGGCGGCGGCGCGGGCTCGGGCCCGGCAGAGCTGCGAGGGACGGCGGGAGGCGAGCCCGCCCCTCGGGCGCGCCCACGGCTCGGGCGAGAGCCGCGGCTCCCGGTGCGGACGCTACTGATGGGGCGTCTGGCCGCGGGCTCGGCGGCGGCGCCTCCCCGGCTGGGGCCCTCGGTCCATCGCGCACCGTCTCAGGGCGGCCTCTGGCTCCAGGACCCAGCGGCGGCTGCGGCGGGAGCCGGCCGCATGAGACGCTCCCGCCCATTGGCCCGCCGTATCCGCCACCGCCATTGGCCCGCCCCGGCCGGCCGCAGGGGCTGTGCACGTCACAGCGCCGTGAGTTAGTGCGCTAATGGAGTGAAGGAGAGAGGCGGGATTGACAGCCTCTCTGGCGGTCCGGAGGCGGGACTAGGAGGACGTCCCGGTAACGATTGGGCAGGGTCCTGCGTAAGGGCGCATGCGACACTGGAAGTAGCGAGCAACTGGATTGGCTGCCTCCGTCGCAAAGGAGGGTGGGTCTTGCATTCTCGGGCCTGACGATTGGTCTTTCCAAGTGCCGGAAGCAACAGGGATGTCGTCTGGAAACAAAATCTGGTATTGAAGCGCAGGGAGACAAAACGTCCACCTCTAGAGCCGAGGCGGCGGTTGCCTGTCGCGTGCCCGTGGTCTTCTGCCTGCCCCCGGACATCTCGGGCCACGTCCGGCCCGGCCTCCGGCCGCGCTGCCCTAACGGGCGTCACGGGGCATGAAGAGCTCTGGGCGGCTGCGAGGGGAGGGTACCGGGGCAGCGGGGCGGTCGCTCGGGGCTCCCGCGCGGTGACTCTTGCTCTGCCGTCGAAGAGAACGGCCCTCGGGCGCGTCGCGGCCGCGGCTCCAGAGCCCCTGGGCCTCGCGCTCTGAGAGCCTGAGCCGCTTGAGGAGGCCAAGCGCCCACGAACCGCATTCCCTGCCTTGCTAGTTAGTTCTCCAACACGCGAAAAAGGTAGACGAGGACTGGTTTTCTTTGCAGCTAAAATGAATCAAGCCTCTGGTAAGTGTGGATCCTGTTCTAAGTGCACCTGTGTTCTCCTCCAGAACTAAACCAAAAAGCAAGGTGAACAAAATCGGTGCTCCTTCAGTTTCTTCTTTAGTTCTGCATGTTACTGGGGACTAAGACAACGGGTAAGCAAACTATTTATAGGCCTCAATTTACGAAATAACGGAATTGCAAAGTCCGGAGTGGATAGGACCGTGAGGACGGTCTTTTTTCTTGGGCAACACGCATTATGGTCGAGAGATCAGTTGTTAAACCGCCCCTGTTCAAATCCCAGCCCTACCAGTGACTAGCGGTCACCCTGTAGGCTTTGTCTCTCAGATCTTCAGTTTCTTGGTGGGTAAAATGGGAACTACAAGTAGCACCTATTCTTTTTTTTTTTTTTTTTTGAGTCAGGGTCTCACTCTGTCGCCCATGCTGGAGTGCAGTGCTAACTGCAGCCTCAGCTTCCCGGGCTCAGAGGATCCTCCCACCTTAGCCTACTAAGTAGGTGGGACCACAGTCAGGCATCACCACACCCGGCTAATTTTTTAAATTTTCGTAGAGATAGGCTCTCTGTGTGTTTCCCAGGCTGGTCTTGAAATCCTGGACTCAAGCGA	G	C89490211T	ANKRD11	NC_000016.9:g.89556619_89558399del1781	noncoding	Pathogenic
16	89490350	AGGC	A	G89490367C	ANKRD11	NM_013275.6(ANKRD11):c.-268GCC[5]	noncoding	Benign
16	89508187	C	CA	C89508195A	SPG7	Single_allele	noncoding	Benign
16	89508451	CGCCGGGGTCCAGGCCCGGGTCCTCG	C	G89508456C	SPG7	NM_003119.4(SPG7):c.39_63del:p.Gly14fs	coding	Pathogenic
16	89508488	GCCCAGGCC	G	C89508490G	SPG7	NM_003119.4(SPG7):c.73_80del:p.Pro25fs	coding	Pathogenic
16	89510506	TG	T	G89510507C	SPG7	NM_003119.4(SPG7):c.201del:p.Leu67_Leu68insTer	coding	Pathogenic
16	89523760	T	TATCTC	G89523762T	SPG7	NM_003119.4(SPG7):c.377-245_377-244insTCTCA	noncoding	Benign
16	89526419	GC	G	C89526421A	SPG7	NM_003119.4(SPG7):c.711del:p.Lys238fs	coding	Pathogenic
16	89526457	AT	A	T89526459C	SPG7	NM_003119.4(SPG7):c.749del:p.Phe250fs	coding	Pathogenic
16	89529461	CTCTT	C	T89529466C	SPG7	NM_003119.4(SPG7):c.759-11_759-8del	noncoding	Pathogenic
16	89529492	G	GGGGATGA	C89529500G	SPG7	NM_003119.4(SPG7):c.775_781dup:p.Thr261fs	coding	Pathogenic
16	89529496	ATGAC	CCA	A89529496C	SPG7	NM_003119.4(SPG7):c.778_782delinsCCA:p.Met260fs	coding	Pathogenic
16	89529575	CT	C	T89529579G	SPG7	NM_003119.4(SPG7):c.861del:p.Phe287fs	coding	Pathogenic
16	89529580	G	GT	A89529582T	SPG7	NM_003119.4(SPG7):c.861+2dup	coding	Pathogenic/Likely_pathogenic
16	89531962	GC	G	C89531969G	SPG7	NM_003119.4(SPG7):c.1053del:p.Gly352fs	coding	Pathogenic
16	89532038	CG	C	G89532040C	SPG7	NM_003119.4(SPG7):c.1124del:p.Gly375fs	coding	Pathogenic
16	89532473	T	TGCCCGTGTGCGGAGCC	T89532490G	SPG7	NM_003119.4(SPG7):c.1162_1177dup:p.Leu393fs	coding	Pathogenic
16	89546571	A	AC	A89546584C	SPG7	NM_003119.4(SPG7):c.1450-75dup	noncoding	Benign
16	89546571	AC	A	C89546583A	SPG7	NM_003119.4(SPG7):c.1450-75del	noncoding	Benign
16	89546736	GC	TT	G89546736T	SPG7	NM_003119.4(SPG7):c.1528_1529delinsTT:p.Ala510Leu	coding	Pathogenic
16	89547991	TTG	T	G89547995T	SPG7	NM_003119.4(SPG7):c.1553-8_1553-7del	noncoding	Benign
16	89548000	CAG	C	A89548001G	SPG7	NM_003119.4(SPG7):c.1553-2_1553-1del	noncoding	Pathogenic/Likely_pathogenic
16	89550527	AAGAAC	A	C89550532A	SPG7	NM_003119.4(SPG7):c.1702_1706del:p.Gln568fs	coding	Pathogenic
16	89550532	CAG	C	G89550534A	SPG7	NM_003119.4(SPG7):c.1704_1705del:p.Lys569fs	coding	Pathogenic
16	89553816	GGTCA	G	G89553817C	SPG7	NM_003119.4(SPG7):c.1960_1963del:p.Val654fs	coding	Pathogenic
16	89553923	GC	G	C89553927T	SPG7	NM_003119.4(SPG7):c.2070del:p.Phe691fs	coding	Pathogenic/Likely_pathogenic
16	89554500	G	GGCCAA	T89554502C	SPG7	NM_003119.4(SPG7):c.2119_2120insCCAAG:p.Val707fs	coding	Pathogenic
16	89554540	G	GACAACCTGCA	G89554549C	SPG7	NM_003119.4(SPG7):c.2166_2167insCAACAACCTG:p.Asp723fs	coding	Pathogenic
16	89653911	TG	T	G89653913A	CHMP1A	NM_002768.5(CHMP1A):c.19del:p.Gln7fs	coding	Pathogenic
16	89688381	TTACATGTGCTTCTTAGATCCATGGAGAAGGATACAGACTCTACTAGTTCAGAGACCCCAAAATACAGGGCCTCAAGATGATGCCTTTTTTCACTCTCCCCTAACATTCTGGAGAGAAGCAGTTGTTTTGCACAGGTGGGTCAGGCATTCTGGTTCCATTTTTTCTTCCCGTCACTGAGGTGAGAAGAGGTGAAAGCTTCCTTTCACCTGGAAGTCACACGGTCCCTTCAGCTCACATTCCAAGGCCAGATGCCACTGGGTAGCGTTTCATAACTTCCAGGAGGTAGTGATACAGGGATGCTGGGACAGCAGCCTCTGCCACAGATGTATTTTTGTATGTGGGATTGAAAGGGAGTATCTGAGTGGCCGCCTCTGATATTTCTTTCAAAGCATTGGCCCAGTATCGTCACCACCTTTTCTCATCAGAAAAGCCCAAGAGGCCGGGTACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCTCTACTAAAAATAGAAAATTAGGCGGTTGTGGTGGCACCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCCGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCATGTTCTTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCTCAAAAAAAGAAAAAAAAAGCCCAAACGTGTGGTTGCCTTTCTGTTTGGTGAGCAAGACGTGAGTGGGCTCCCTGGTACAAATTCCATTTGAAATTTCCTCAGTTGTTCCATCAGCTGCCAAATTTCCACACTGGCAACACCCTTCTGTTTCAGCTGGGACGATGCCGGAGTGTGAAGGAGTTTGAGAAGCTGAACCGCATTGGAGAGGGTACCTACGGCATTGTGTGTGAGTGGCCAAGGCTAGGACATGTGGCCGCAGCTCGTGGCTGTGACAGTGTGGGACGAGACTGTCGAAGCAGCAGCCGCGTTGGGGCTGGAAGGGACTCAGACCCTGTGCTCTGAAACAGGGCAGAAACCTGTTCAGGAACTTCAATTCCTGATGTAGTTATCACAAACATTGTACCATTTCTGGGTAAACGTAAGCATCCGGTTGCTAATGCCCATAATCCAAACGTGTCACTGCAGAGTACACAGAACTGTTAGAGAAATAAAATACAGAACTTTCCAGAAGCAGCAGGAGCTGGACATGGTGCTCATGTCTATCACCTCAGCAACTCTGGAGGAGTCACCTGAGCCCAGGTGTTTTTTCTTTTTGTTTGTTTTTGAGATGGGTCTTGCTCTATTGCCCAGACTGGAGTGCAGTGGCATGATCATAGCTCACTGCGGCCTCGACCTCCTAGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACCACAAGAGTACATAAGCACACCCAGCTAATTTTTAAATTTTTGGTAGAGATGGGATCTCCCTATGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAATGATCCTCCTGCCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCACCCGGCCAAGCCTAGGAGTTTGAGGCTGCAGTGAGCTGTGATCACGCCACTGCACCCCAGCCTTGGCAACAGAGTGAGACCCTGTCTCAAAAAAACCAAAAACACCACACACAACTAAAGGTTATAACAGATGTGAAATTGGCGTAGGTCATTCTGGAAGCTGCACACATTAGCAGGATGTTTTGTAGAGCCATCTTCACACAAAATAAGGTTTGCTTTTTTCTGCATAGAGTACCTTATTTGCTTTTAGGACATTACAAGAGAGCACAAAGCAGTGATCTGCATGCTAAGGAGGACATGGAGAGCCTGGAGCCACAGAACTGAGTGGCTGGAGGCCAGGGTCCAGCACAGAGCAAAGTTGGGCACCCCCTGCCCAGTTCAAATGAGGAAACCCTCCGGGGGAACGCGTCTCGGGCTAGGGGCGTTGCACAGAGTGGGGACTGAGTGTCACTGGGCATGAGGTTGTCAGAGGAAAGAACGGGGACCCCTGTGGCTCAGGGAGAGCCTCCCGTTCAGCGCTAGGGAGCCCACGAGGGGCATCGAGATGATGTCATCACCAATGTGTTTCCATTCCAGATCGGGCCCGGGACACCCAGACAGATGAGATTGTCGCACTGAAGAAGGTGCGGATGGACAAGGAGAAGGATGGTGAGCAGGAAATTGGGGTGTTGGGACCTCGCACTGGGAGGAGGCAGAAGGATGTGAGTTACCTGAAGTTTCCTCAGAGCGACTGCACGGTGCTTGTAGCGGGGGCCGGCCTCTGGGAGGGTTCTGGTGTGGCCCAGCACATCACCCCCAGGTCCACACGCAGCCTCAGCTGTCTGCCAGGAGGGCTCTGCAGTCTCCATCCCCTCCTCCCCCTCCTGTCTGGTGAGGCCACCTCACTGCAGGCTCAGCTCTGCTGTCCCCTCCACCCCCAGCACCTGCCTGTGCAGGCAGGGCCCTGCCATGCCCCACATAGATGTCCACGGTGTTTAGAGAGGTGCCGATTCGTATTTGGTCAAGGAAGAGTTAAA	T	T89688382A	CDK10	NM_052988.5(CDK10):c.88-870_232+368del	noncoding	Pathogenic
16	89693307	CAA	C	A89693308G	CDK10	NM_052988.5(CDK10):c.520_521del:p.Lys174fs	coding	Pathogenic
16	89695007	CAT	C	A89695008G	CDK10	NM_052988.5(CDK10):c.870_871del:p.Trp291fs	coding	Pathogenic
16	89738880	A	AC	T89738883C	FANCA	NM_000135.4(FANCA):c.4260+1dup	coding	Pathogenic/Likely_pathogenic
16	89738886	GC	G	C89738888A	FANCA	NM_000135.4(FANCA):c.4255del:p.Ala1419fs	coding	Pathogenic
16	89738956	T	TC	A89738958C	FANCA	NM_000135.4(FANCA):c.4185dup:p.Ile1396fs	coding	Pathogenic
16	89739183	T	TA	T89739185A	FANCA	NM_000135.4(FANCA):c.4116dup:p.Thr1373fs	coding	Pathogenic
16	89739272	TGGAAGTA	T	A89739276G	FANCA	NM_000135.4(FANCA):c.4021_4027del:p.Tyr1341fs	coding	Pathogenic
16	89739514	TC	T	C89739516G	FANCA	NM_000135.4(FANCA):c.3973del:p.Asp1325fs	coding	Pathogenic
16	89739995	ACT	A	C89740000G	FANCA	NM_000135.4(FANCA):c.3931_3932del:p.Glu1310_Ser1311insTer	coding	Pathogenic
16	89740000	C	CT	G89740002T	FANCA	NM_000135.4(FANCA):c.3927dup:p.Glu1310fs	coding	Pathogenic
16	89740004	C	CAACTG	A89740012C	FANCA	NM_000135.4(FANCA):c.3919_3923dup:p.Leu1308fs	coding	Pathogenic
16	89740017	GC	G	C89740019A	FANCA	NM_000135.4(FANCA):c.3910del:p.Ala1304fs	coding	Pathogenic
16	89740026	G	GA	T89740028A	FANCA	NM_000135.4(FANCA):c.3901dup:p.Ser1301fs	coding	Pathogenic
16	89740049	CT	C	T89740050C	FANCA	NM_000135.4(FANCA):c.3878del:p.Glu1293fs	coding	Pathogenic
16	89740636	CA	C	A89740654C	FANCA	NM_000135.4(FANCA):c.3828+167del	coding	Benign
16	89740636	C	CAAAAA	C89740655A	FANCA	NM_000135.4(FANCA):c.3828+150_3828+154dup	coding	Benign
16	89740839	AG	A	G89740841A	FANCA	NM_000135.4(FANCA):c.3792del:p.Ser1264_Leu1265insTer	coding	Pathogenic
16	89742824	C	CA	T89742825A	FANCA	NM_000135.4(FANCA):c.3740_3741insT:p.Lys1247fs	coding	Pathogenic
16	89742926	A	AG	A89742931G	FANCA	NM_000135.4(FANCA):c.3638dup:p.Pro1213_Glu1214insTer	coding	Pathogenic
16	89744665	G	GT	G89744677T	FANCA	NM_000135.4(FANCA):c.3626+283dup	noncoding	Benign
16	89744677	G	GT	C89744686T	FANCA	NM_000135.4(FANCA):c.3626+274dup	noncoding	Benign
16	89744677	G	GTT	C89744686T	FANCA	NM_000135.4(FANCA):c.3626+274_3626+275dup	noncoding	Benign
16	89746443	CTG	C	T89746446G	FANCA	NM_000135.4(FANCA):c.3513+139_3513+140del	noncoding	Benign
16	89746629	CAG	C	A89746630T	FANCA	NM_000135.4(FANCA):c.3466_3467del:p.Leu1156fs	coding	Pathogenic
16	89746656	GTC	G	C89746660G	FANCA	NM_000135.4(FANCA):c.3439_3440del:p.Asp1147fs	coding	Pathogenic
16	89746836	A	AG	A89746838G	FANCA	NM_000135.4(FANCA):c.3402dup:p.Phe1135fs	coding	Pathogenic/Likely_pathogenic
16	89748735	CAG	C	A89748738G	FANCA	NM_000135.4(FANCA):c.3270_3271del:p.Cys1091fs	coding	Pathogenic
16	89748756	CGGAGGAG	C	G89748758A	FANCA	NM_000135.4(FANCA):c.3244_3250del:p.Leu1082fs	coding	Pathogenic
16	89748989	AAAC	A	A89748993T	FANCA	NM_000135.4(FANCA):c.3240-225_3240-223del	noncoding	Benign
16	89749755	GTC	G	C89749759G	FANCA	NM_000135.4(FANCA):c.3212_3213del:p.Arg1071fs	coding	Pathogenic
16	89749797	CCTGGAGCCGT	C	G89749801C	FANCA	NM_000135.4(FANCA):c.3162_3171del:p.Arg1055fs	coding	Pathogenic
16	89749799	TG	T	G89749801A	FANCA	NM_000135.4(FANCA):c.3169del:p.Gln1057fs	coding	Pathogenic
16	89749813	GAA	G	A89749816T	FANCA	NM_000135.4(FANCA):c.3154_3155del:p.Phe1052fs	coding	Pathogenic
16	89749821	CAA	C	A89749823G	FANCA	NM_000135.4(FANCA):c.3146_3147del:p.Leu1048_Phe1049insTer	coding	Pathogenic
16	89749829	AAGTGCTCCTGGGAAGGGGTGTGGCCGAG	A	T89749832G	FANCA	NM_000135.4(FANCA):c.3112_3139del:p.Leu1038fs	coding	Pathogenic
16	89752137	CCTGCAATCTGGAAATAATATCCTCATTTCCTGTGCGGCCACCAAAGACCAAATCAGAATTTTCTGAGTGGTCATAACTCCTTGAGCTGAAATGAAAATACAATAAAATCCTCCTCAGTATCGCCTAATAGTGCTGAAGTTCCCAGTTCTCCTCCTGCCTCCGGAGCTGAGTGATGGCTGTGCTTCTCTGACAGTGTGACCCTCACATTAGTCAACAATAAACAACAAAAACTGCCACAAAATACTACCAACCCCAACCTAGGAAATACAAAAATTATGTACCATGACCAAGGAGGCTTATCCCAAGAATGCAAGGATGTGGGTGGCAAGCCACCCAGGCACCAAGGCAAGAGACAGAGGACACGAGCTGTTCCAGTATAATAAAATATAAAACAAGAATAGTTATACCAGATATAGATCTTAGATATGATTACATATGAATATCATTAATCATTAGTTGGTAGCAATTACTTTTTATTCCAATATTATGATAATCCTCACTCAATAATCATAGCCTAGGAAAAACCAGGCCATACAGAGATAGGAGCTGAGGGGATATACTGAGGTGTGACCAGAAGACAAGAGTGCGAGCCTTCTGTTGTGCCCGGACAGGGCCACCAGAGGGCTCCTTGGTCTAGCGGTGATGCCAGCGTCTGGGAAGACGCCCGTCACCAAGCGGATCGTGGTCCAGCGGTAGCAAAAGGTGTCAAGGAACAACACCCACTACTTAGCAGACCGGGAAAGGGAGTCTCCCTTTCCCCCGGGGAGTTTAGAGAAGACTCTGCTCCTCCACCTCTTGTGGAGGGCCTGACATCAGTCAGACTCGCCCGCAGTTATCCGGAGGCCTCACCGTCTCCCTGTGATGCTGTGCTTCAGTGGTCATGCTCCTAGTCCACCTTCATGTTCCATCCTGTACACCTGGCTCTGCCTTCCAGATAGCAGTAGCAAATTAGTGAAAATACTAATAGTCCCTGATATGCAGAAATAATGGCGTAAGCTGTCTTTCTCTCTGTCTCCTCTCCCTCTCTGCCTCAGCTGCCAGGCAGGGACGGGCCCCCTGTCCAGTGGACATGTGACCCACGTGACCTTACCTATCATTGGAGGTGACTCACATTGTTTACCCTGCCCCTTCTGCCTTGTATCCAATAAGTAACAGCGCAGCCCGACACTCGGGGCCACTACCGGTCTCCGCGCATTGGTGGTAGTGGTCCCCCGGGCCCAGCTGCCTTTTCTCTTATCTCTGTCTTGTGTCTTTATTTCTACACTCTCTCATCGCCGCACACAGGGAGAGACCCACCGACCCTCCGGGGCTGGTCCCTACACAAGGATAGCTTAAGATCCCCAAACCAATATAACGCAGTTATCAATAAAATAAAAAGCAAAAACCGTAAGATTATCTCAATAGATGTAGAAAAAGCACTTGACGAAATGTGACATCCTTTTGTGATAAAAACACTCAATCAACCAGGAACAAAGGAAATCTTCTCAATCTAGTGCCTGGCATGGATGAAAACCCACAGCAAACGTCAGATTTAATGAGGAAAGACTGAAAGCTGTTCTCCTAAGATCAGGGGCAACAAGGATGTCCTCTCTACACTCAGAACAGTGTCGCTGCCTCTACTCAACACTGCACTGGGGACAGACACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATCTGAGGTCAGGAGATCGAGACCATCCTGGCCAATGTGGCGAAACCCTATCTCTACTAAAAATACAAAAATTAGACGGGCGTGTTAGCGGACGCCAGTAATCCCACCTATTGGGAGGCTGAGGCAGCAGAATTGCCTGAACCTGGAAGGCGGAGGTTGCAGACAGCTGAGATAGTGCCACTGTACTCCAGCCTGGGACACACAGCGACACTCTGTCTCAAAAACAAACAAACAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGAGAGGCGAAGGTTTCGGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAACAAAACAAAACAACAACAAAAAAAACAACACTGCCCGGGGAGTTCAAGCCGGGGCAATTCAACAAGAAAAAGAAAAAGCATCCAGATAGGAAAGGAAAAAGTGAAACTATCTCTCTTCACATATTATATGATCTTTCTTTTGTTTTTTTGTTTTGAGACTGAGTTTCACTCTTGTCGCCCAGGCTGGAGTTGCAGTGGCATGATCTCAACTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAACGGATTACAGGAGCCCACCACGATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCATGATCCGCCCACTTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAGACACGATCTTATATATACAAAGCCCTAAGGAATCGATACAAAAACACTCTTAGAACTAATAAATGACTAGAGCCAATGAATATACAAGAATCACTGGTGTTTCTATACGTTAGCAACAAATGATTCAAAAGGAAAGAAGACTCGCTATCACTGAGATGGCAATACTGCCCCACATGCAGTCCGTATCAGGGTCCCAGCTACTTTTGTCGAAACTGACAAGCTCATCCCAAAATTAAGACACAACTACAAAGCACCTAGAAAAGCCAAACCATCCTGAAAAAGAAGAACCAAGTTGGAGGCCTCACACTTCCCAATTTTAAAACCTACTACAAAGCTTCATCCCAATGACGCAGTGCATATGGACATACAGACCAAGGGAACACAATGAGAGCCAGAAACAAACCCTCACACGAGCAGCCATCTAACTTTTGACAAGGGTGCCAAGACCATTCAGTGGGGAAAGAAGTGTTTTCAACAAATGGTGCTGGGACAACTGCATGGCCACAAGCAACAGAATAAAGCTGGATGACCTCACACAACAATTTTTTTTTTTTTTTTGAGACAGTCTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGCAAGTCTCCTGCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAGTTTTTGTATTTTTTTAGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGGCTGGCCCAAAATGTTTTCTGATCCATCAAAATGAATCAAAATCCTAAAGAGCTAAACTAAAAATAAATGATCTGGACTTTATAAAAATTTAAAACCTTTGTGCATTAAACGATACTATCAAGAGAGTGAAAAAAGAATTAACAGAATGGGAAAAAATATTTACAAATCATATATTTGATAAGAACTTTATCTAAAATATATAAAGAACTCATACAACTCAGTAAGACAAATACAGTCATGAACTGCTCAATGACAAGGATCCATTCTGAGAAACACATCTTTAGGTGGTTTCATCACGTGAACATCCAAGAGCACAGACACAGACCAGAGCCCCCCGCACACCTAGGCCACACGGCACGGCCCACCGCACAGACACAGACCGGAGCCGCCCGCACACCTAGGCCACACGGCACGGCCCACCGCGCAGAAACAGACCAGAGCCCCCGCACACCTAGGCCACATGGCACGGCCCACCGCTCCCAGGCTATAAACCGGCATAGCATGTAACTGTATTGCATGCCGCAACTGTAACACAACAGTATTTGTGTATCTAAACATAGAAAAGGTACGGTAAAAACACAGTTTAAAAAAAAGGTACAAAAAATTATGGCTATGTGGGATTACTGTCATATATGTGGCTCGTTGTTAACCAGAACATTCTTATGCAGTACATGAATGTGACCCAGTTTTCAAATGGGCTAAGGATGTGAACAGATTTCTCCAAAAAAAATCTAAAATGGCCAATAAGAAAATGGAAAGATGTTCAAAATCACTACCCATTAGGGAAGTGCAAATCGAAACCACTATCAAATAGCACTTAATACCCACTAGGATGGCTACCATCAAGTCAGGCCTGGCAGAGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTACAACTACAAAAATTTGCCAGGTATGGTGGTGCCTGTGGTCCCAGCTACTTGAGGGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGGGCTGCAGTCACTGTACCCCAGCCTGGGTGACAAAGAAAGACCCAGTTTCAAAATAAATATAAATAAGACAAAGTAAGACTATCTCAAAAAACAAACAAACAAAGTGAATGGATAAACAAAATATGGCTGATCTTTCTGTTCCGCAGTGAGCAGCTCTGTGCAAACCTACCCATAAAGGCTGGGGAAGCTGGAAGGCTGAAGAGAGGCTGAATAATCCAGTTTCTCAGACAGAAACGTTTAAGGACTTACAGACAGAAACCATGTCTCAGGCAGCCTAGAGAGACGATGCATCCCTGCACTGTTACCCCCAGGCAGGGCTTCTATACCACAGGGAAGGACTATTGAAGTCAACCCCTCAGGGAAAGGCAAGAATGCTCTGTGAATCTAACCGCTGGATTTATGGTGGAAGATTTGCTTTTTTGTTTTGAGATGGAGTCTCACTCTGTCACACAGGCTGGAATGTAGTGGTGTTTTCACAGCTCATTGCAACCTCTGCCTCCCCGGCTCATGCAATCCCACCTCAGCCTCACGAGTAGCTGGGACCATAGGCACACACTACCATGCCTGGCTAATTTTTTTTTTTGTCTAGACGGTTTCACCAGGCTGGTCTCGAGCTCCTGAGCTCAGATGATCCGCCTGCCTTGGCCTCCCAGTGCTGAGATTCCAGGCATGAGCCACTGCGCCCAGCCTCAAGGTTGTTTTGACCTAAGAGTGGGATTTAAGGTAACAGCAGATAAATGGGAAATCTCAGGAGGCATTCTTGGAGTAGGGTTAACAAGAAGTCACCCACGATGGAGGTGCGTCAGCCTCCATACCTTCTGTGAGCATCAGTCAGCCATAAGAAGGAAGGGTATGCTGATATGTGCTACAACACAGATGAGCCTCAGAAACATTCTGCTCAGCCAAAGAAGCCAGACACAAAGGGCCACATACTACATGATTCTGTTGATATTAAACATCCCAAACAGGCAAATCCATGAACATAAAATGGATTCGTGGTTGCCGCAGGCAGGAGACATGGGGGGAAGCTGCATACACACTTGCCATCTGTACTGAATGCTGCAGCTGTAACACAACAGTGTGAAGCTGCAAACAAGAGCCCCTGGGGACAAAGCCTGGACAGCCCCAGGTACACTCCGTCCATCCTTCTGGCCCACATGCAACACCTCAGGAACTGCTCTGTCCTGAGAATCCCTCTCAGATGGAGAGAGGCTGTGATGCCCAGGATCTACTAGGCCATTTGTGCCGTGCTTCACACATGCTCACCTTGAATACCAGGTGACAGAACAGAAAAACAACGTTGTTGCTATTTTTATCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGAGGGAGGTTTCACCATGTAGGCCAGGCTGGTCTCTAACTCCTGACCTGAGGTAATCCACCCACCTCAGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCCGAAGTTGTCGCTTCTGACAAGTCTATACACATAAAGAAACAACCGATGCAGGAAGCTTGGCTTTATTTTGTATTGACATAGATTTGCTATGTGATAGGCTCAAGTGTACTTTGCATACCAAAATTGGACTGAGAGAAAAATGCATTCTTAGAACTACCATGATTAAAAGTAAGGCCTCATCGGTGTGTGATGGTTAATACTGAGTGTCAACGTGACTGGACTGAAGGATGCAAAGCATTGATCCTGAGTGTGTCTGTGAGGGTGTTGCCAAAGGAGACTGACATTTGGGTATAGGCTGGGAAAGGCAGACCCACCCTAAGCTAATTAGATGGGCACCAGCATGGCCAGAAACTCCCCTTTATATATATCCTATTAGTCCTGTCCCTCCAGAGAACCCTAATACAGTGTGTGCTGCTAACCTTTGGTGGAAATCCATCAGTGCGTTGACAAGAATGGTACACGCAGCCTGCAGGTCTCCGTCACAGCCCCCTGAAGCCGAGGACTCAGGGAGAAAGTGCTCATGGATCGCCCACTGGTGGAAGTCCTGCCTAGAACAGCAAACACTGCTATCAATTCTGAGAAATGCTTCGTGGCCAGCGGTTCCCCATAACCAGGGAATAGGCCCATAGTAAGGGACACACAGCACTAGTGAGAGCTGGGTTGAGACTGGCGGCTCGGGACCTTGGAGTAGGGATGAGACCTCACTGTCTGCAGGGTGGGATGCCTGGGGATGTGGGAAAGGCCTGGTCTCAGGAGTGACCTTTGTGACCCCACCTTCCACGGATCAAAGGCCACTCAGGATGACATCCCACGGGGTAACTGCTGGCCACACAGCACATGAGCTTGGTGAACAGAATAGGCAAGCACAAAAATGTAGGCTGGGGCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTCAGGCGGGCGGATCACGAGGTTAGGAGATCGAGACCATCCTGGGTAACACGGTGAAACCTCGTCTCTACTCAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTATGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCTGCTTGGGCAACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAGCCTGGAAAGTCACCTGAGGGCACCTGAGCTACTCACAGGCCCACCAGAAGGGGATGGTGAAGCAACCTGCATCCAGACTGTGGACTCTGTGGATACGGATGGGAAGGGGCTCAAGGAGACACTGACTCAAAACTGCAGTGGCTACACCTGTAATCCCAGCACTGTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTCTGACATCAGCCTGAGCAACAAAGGGAGACCCCATTCCTACAAAAAATAAAAAAATTAGCTGGGCATAGTAGTGCCCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTCGAGCTCTGGAGAGGGAAGCTGCCGTGAGCCGTGAGTGCATCACTGTACTCCATCCTGGCCAACAGAGTGAGACCCTGTCTCAAACAAACAAACAAATCCGCAGTGCACAGAACCATCAATACCGCAATCCATTTATGCAGAAAGAGCCACAACCAGGAAAACGCTCCACACGACCCTGCAAATGTGAGTGCTAGGGAGTGTGTGCTCTCCTCACACTGTCCGGGACTGGGGTGCTCCACCCACGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCATCAGCACGTGTTTTGCCGCAGGCAGCAGCGAGTTTTCTTTTTGTGGCCCCTATGTTTTCCTTTTCCTATTACTTCCATTGGTTTCATCCAGAATCTGATACCAGGATCCAGGTGCAGGCGACAGTGCTGCATGTGCCTGGAAGGCCCCTGATGGCCGGAAGGACGAGGAGCACAGGGTGGCTGTTGCCAACCCTCTCCTGAGTCTAGGTGTGGCAGGCACCCTGAGGCCCATATACCCACCAGGATACTCCATATCTGCAGTGACCACATTCCCCTCTCCCTGACCTCCACCCTAAACTCCACACCCTTAAACCCAACGGTCCTCTGGGCTCCCTACTCCTATGCCCAGAACAGCACATCTGGCCTCTCAAATAGTCTCAAATGGTCTCAGTCATCAGCCCTGGGACTCATGGGGGTTCACTGCTTCATTTACCCACTTCTTGGTGCCCCCAAGTCAAGGCTGGCATCACTCCTCAAAGTCTGCACCACCTGCTCCACACCAGCCTCTGCTCCTGCCTGGTCATTTCCTCTCACACGGCCCTGTCTGTTATCTCCAGGGCTCATTCCTACCTTTAATCCACTTCTGTATCTACCTGTGTGTTGCCAGGGCCTGGACACAGGTGTACAGCTCCCGGACAGCAGCCATAGCCCAGCCAGGGTAGGGTGAAGTCTAAGTGGGTGCCTTATACGTGCCACATCTGCCCTCATTGATACAAAGGTGCCATATGGGCAGGCTTGTTTATTCCCCTCTATACTCCCTGCTTCTAGAACACTCTAGAATTGTCTGCCACATGGTAGGAGCTCAGTAAATGTTTCTTAAATAAAGGAATAACAACCGAAATTGGGCAACCTGGCCAGGCGCGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAAGTGGATCACGAGGTCAGGAGATTGAGACCACCCTGGTTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCTGGGTATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAGAAAAACAGAAATTGCCACCGCGTGGAAGCTTTACTTTCGCTTTTGCTTTAATAAATCTTGCCACCGAAAAAAAAAAAATTGAAATTGTGCTCAAAGATTAACAGGTAAACCAAACATTAAATTGAGGATAAAATGACGAAACATAGGCTTTAAGGCAATGTGGAAAACCGTGTAACATTTTAAAGGGAAGCTCCTTTTTCTTTTGAGATAGGGTCTCACTCCGTTGCACAGGCTAAAGTGCAGTGGTGTGATCTCAGCTCGCTGCAGCCTCTACCTCCCAGGCTCAAGCAATGCTCCTGCTCAGCTTCCCAAGTGGCTGTGATGACTGGAACGTGCCGCATGTCCGGCTAATTTCTTTTCTATTTTTTGTAGAAATGGAGTTTCCCCATGTTGCCCAGGCTGACCTCAAACTCCTGGATTCAAGAGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCATGCCTGGCCAGGGTAGCTCTTTTCAACACTTACCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAA	C	C89752141A	FANCA	NC_000016.10:g.89752138_89762022del	noncoding	Pathogenic
16	89752184	A	ACCAAATCAGAATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCACATGAGAGGGAGACCGTGGGGAGAGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAG	G89752202T	FANCA	NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG:p.Val1007fs	coding	Pathogenic
16	89758701	CCTGCCTAGAACAGCAAACA	C	C89758706T	FANCA	NM_000135.4(FANCA):c.2853-15_2856del	coding	Pathogenic/Likely_pathogenic
16	89761947	AC	A	C89761949G	FANCA	NM_000135.4(FANCA):c.2852+1del	noncoding	Pathogenic
16	89761968	C	CA	T89761970A	FANCA	NM_000135.4(FANCA):c.2832dup:p.Ala945fs	coding	Pathogenic
16	89764898	CTTCCTCT	C	C89764902A	FANCA	NM_000135.4(FANCA):c.2763_2769del:p.Glu922fs	coding	Pathogenic/Likely_pathogenic
16	89764950	AG	A	G89764951C	FANCA	NM_000135.4(FANCA):c.2717del:p.Ala906fs	coding	Pathogenic
16	89764960	C	CA	G89764962A	FANCA	NM_000135.4(FANCA):c.2707dup:p.Trp903fs	coding	Pathogenic
16	89765000	TG	T	G89765002C	FANCA	NM_000135.4(FANCA):c.2667del:p.Ser890fs	coding	Pathogenic/Likely_pathogenic
16	89767177	AG	A	G89767178T	FANCA	NM_000135.4(FANCA):c.2564del:p.Thr855fs	coding	Pathogenic
16	89769858	T	TC	T89769862C	FANCA	NM_000135.4(FANCA):c.2482dup:p.Asp828fs	coding	Pathogenic
16	89769972	TG	T	G89769973C	FANCA	NM_000135.4(FANCA):c.2368del:p.His790fs	coding	Pathogenic
16	89770216	G	GT	C89770218T	FANCA	NM_000135.4(FANCA):c.2265dup:p.Arg756fs	coding	Pathogenic
16	89770228	T	TC	T89770231C	FANCA	NM_000135.4(FANCA):c.2253dup:p.Thr752fs	coding	Pathogenic
16	89770237	AG	A	G89770238A	FANCA	NM_000135.4(FANCA):c.2244del:p.Phe749fs	coding	Pathogenic
16	89770239	AG	A	G89770242C	FANCA	NM_000135.4(FANCA):c.2242del:p.Leu748fs	coding	Pathogenic
16	89770248	C	CA	G89770250A	FANCA	NM_000135.4(FANCA):c.2233dup:p.Trp745fs	coding	Pathogenic
16	89770582	C	CTGGA	G89770587T	FANCA	NM_000135.4(FANCA):c.2200_2203dup:p.Ser735fs	coding	Pathogenic
16	89771774	C	CCT	A89771778T	FANCA	NM_000135.4(FANCA):c.2053_2054dup:p.Ala686fs	coding	Pathogenic
16	89771801	C	CTG	C89771806T	FANCA	NM_000135.4(FANCA):c.2026_2027dup:p.Gln676fs	coding	Pathogenic
16	89773269	AC	A	C89773271A	FANCA	NM_000135.4(FANCA):c.2014+1del	noncoding	Pathogenic
16	89773283	T	TG	T89773288G	FANCA	NM_000135.4(FANCA):c.2001dup:p.Ser668fs	coding	Pathogenic
16	89773340	GC	G	C89773341T	FANCA	NM_000135.4(FANCA):c.1944del:p.Glu648fs	coding	Pathogenic/Likely_pathogenic
16	89778627	TA	T	A89778657G	FANCA	NM_000135.4(FANCA):c.1826+173del	noncoding	Benign
16	89778627	T	TA	G89778658A	FANCA	NM_000135.4(FANCA):c.1826+144dup	noncoding	Benign
16	89778806	CAG	C	G89778810C	FANCA	NM_000135.4(FANCA):c.1819_1820del:p.Leu607fs	coding	Pathogenic
16	89778968	AG	A	G89778970A	FANCA	NM_000135.4(FANCA):c.1750del:p.Leu584fs	coding	Pathogenic
16	89778979	CACGTAG	C	A89778980T	FANCA	NM_000135.4(FANCA):c.1734_1739del:p.Tyr578_Val580delinsTer	coding	Pathogenic/Likely_pathogenic
16	89782893	TAG	T	A89782896T	FANCA	NM_000135.4(FANCA):c.1590_1591del:p.Tyr531fs	coding	Pathogenic
16	89784708	TGGGGAAGGGGAA	T	G89784724C	FANCA	NM_000135.4(FANCA):c.1470+122TTCCCC[2]	noncoding	Benign
16	89791417	CAT	C	A89791420G	FANCA	NM_000135.4(FANCA):c.1343_1344del:p.Tyr448fs	coding	Pathogenic
16	89791422	GA	G	A89791423C	FANCA	NM_000135.4(FANCA):c.1339del:p.Ser447fs	coding	Pathogenic
16	89791467	AG	A	G89791469A	FANCA	NM_000135.4(FANCA):c.1294del:p.Leu432fs	coding	Pathogenic
16	89791469	G	GA	C89791472A	FANCA	NM_000135.4(FANCA):c.1292dup:p.Leu432fs	coding	Pathogenic
16	89791916	TA	T	A89791920G	FANCA	NM_000135.4(FANCA):c.1225+10del	noncoding	Benign
16	89791954	AGCAGACAACCAGG	A	A89791962C	FANCA	NM_000135.4(FANCA):c.1185_1197del:p.Leu396fs	coding	Pathogenic
16	89791988	TCTCTGCCAGTGAAC	T	T89791992C	FANCA	NM_000135.4(FANCA):c.1150_1163del:p.Val384fs	coding	Pathogenic
16	89792513	GCTCCACT	G	C89792517T	FANCA	NM_000135.4(FANCA):c.1034_1040del:p.Glu345fs	coding	Pathogenic
16	89799629	C	CAA	C89799632A	FANCA	NM_000135.4(FANCA):c.800_801dup:p.Asp268fs	coding	Pathogenic
16	89803313	TC	T	C89803317T	FANCA	NM_000135.4(FANCA):c.737del:p.Gly246fs	coding	Pathogenic
16	89803624	C	CT	G89803640T	FANCA	NM_000135.4(FANCA):c.710-298dup	noncoding	Benign
16	89805283	AAAGCATGGCCCTGGCGACGTCAGCATGCTGGCAGGATGCTTCCATCTGTTCACAAAGGCAGCACAGATTCCTGAAGAGCCACGATCCCACAGCATGCATGTCGGGATGGCTGGAGACACACACAGAGGCAGACGTAAGGCTCAACTAAATCCCATCATCAGGGGATTGAGTTGAGCCATATGTCCCAATTTTTTTTTTGAGACAGTTTTTTGCTGTCACTGAGGCTGGAGTGCAGTGGCGCAATCAGTCACTGCACCCTCGACCTCCCAGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGTTGGGACAACAGGCGCATACCACCACGCCCAGCTGGAGGTCTTACTACTTTGCCCAGGCTGGACTCAAACTCCCGGGCTCAAAACAATCTCCCACCTTGCCCTCCCAAAGTGCTGGGATGACTGGTGTGGCACTGTGCCCAGTCTCAAGTTATTTTCTAATTTCCCTTGTGACTTCTTTGACTCATTATGTTAACTTTCAAATATTGTGGATTTTCCCAATTCCCTTCTGTTGTTTATTCTAATTAAATTCATTTGTGGTTAGAGAACATATTTTGAATGATTTCAGCCCTTCTAAATTTATTCCTCTTTGTTTTATGGCCTGAACCTTTTTTTTTTCTCTTGAAACAGTTTTGCTCTTGTCATCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCACAACGGCTGGGATTACAGGCACCTGCCACCTTGCCCAGCTAATTTTTGTAATTTTAGTAGAGACAGGGTTTCACCACGTTGGACAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTGGCCTGAACCTTATGCTGTATCCTGGGGACTGTTCCATTTGGACTTACGAATACACACTCTGCTACTACTGGGTAGAGTGCTCCACAGTCAGTCAGGTCAGCTGGTTTGCAGCATTCAACTTCTATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTCTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACAGCAACCATCTGATTTCGCAATCTTTTCCCCACCCTTCCCCCCTTTGTATTCCATAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTATGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGTTCTATATCATTCTTAATCTAACTTGTTCTACCCATTACTGAAAGGGGAGTATTGAAACCTCTAATGATTATTGCTGAAATGTCTACTTCTCCCTTTAATTCTGGCCATTTTTGCTTCATAGATTTTGGTGCTGAGATAAGATGTGTATATCCTAGGAAGCAGGTTTTTCTTTTTTTTTTTTTTTTTGAGATGAAATTCTGCTCTAGGCCGAGGCGGGAGGATCACAAGATCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAACATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTGAGGAGGCAGGGGCAGAATTGCTTGAATCCGGGAAGCGGAGGTTGCAGCGAGCCCAGATCTCACCACTGCACTCCAGCCTGGCGACATAGCAGGTCTCTGTCTCAAAAAGAAAAAAAAAGGCCGCGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGAATCACCTGAGGTTAGGAGTTTGACACCAGCCTGGCTAACATGGCGAAACCACATCTCTACTAAAAATAACAAAAATTGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGGCAGAGGCGGGCAGATCCTGAAGTCAGGAGATGGAGCCCATCCTGGCTAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCCTGCAGTGAGCCGACATCACGTCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCTGTCCCTAAAAAAAATAAATACATAACAAAAATTAGCTGCGTGTGGTGGCGGGCGCCTGTAATCCCAGCGACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTTGTAGTGAGCTGAAATCGTGCCACTGCACTCCCACCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAAAAACAGACAAAAAGCAAACAAAACCAAAACACCATAAACGTTCTCTTGAAATAATAAAGCAATAGTTCCTCCAGGTCTAGTCTAGTATAAATATGCAATGCAATCTAGTCTAGTACAAATTATATGTCAAAGCCAGAAATCAAACCCGTCTGATTCTGGGCTTTGAAATATAATTTATACTAGACTAGACTGCAAAAACAGTAACACTGAATCATCATTAGCACGCTACCTTTCCAGCAGCTCTTGCAGGCTCACAATGCCTTGTACGTGAAGATGCCACACCGCTTCAAGCAACAAAGAACTCTGAAAAACAAAACAAAACAAACAAAAACAAAAACAAAAAAACCCCCAGCATTCTGAGTCCTTTATGAATGCATTTTCCTACAAAATGTTCAACTTAGGTTCTTAACCATGCCGTATTGAAAATTAACCTCAAGCAAAAACTTAGAGCCTGAAACACATCTTTTTTTACAAAGCTGTACTGGTTTTCAAACTCCCTGGCCTTTGGGCACCCACACACCGTTGCCCAACACTTGCTTCTCTTCCTTCTCTCTTCCTACGCACTGTAGCCTACTTCTAACCCTTTCTCCACACTACAGCCAACACAGTATTACACACACTGACATGACAGTCTCTCCTTCAGAAGCCTTCACTGGCTCCTCGAAGCTGCCAGGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCTTGTGGATTTAGTGGCTTGTTTCCCAAGCTACGTGATAATGAGGGCAGGGACCAAAGCAATAACTGAAAAATCTAATGAATTCTATAATGTATGCTGGATAAAAGAATGGGAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAATTGAAGACCAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAGATACAAAAATTGGGCAGGGCGCGGTGACTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGGTGGGCAGATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGACGTTGCGATAAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGATACAAAAATTAACTGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTAAGGTGGCTGAGGCAGGACAATCGCTTGAACCTGGGAGGCAGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCAATATTCTGTCTCAAAAATAAAAATAAATGCCAGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGTCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGGGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGTGCGACAGAGCGAGACTTCGTCTCAAAAAAAAAAAAAAAAGACCAGCCTGGGCAACAAGGCGAGACCCTGTCTCTGGAAAAAAAAATTACATACATTTTTTTTTAATAGTTTACTATACTACCCTGGAAAATTCTCCATACTAATATACCCAAGGCTAAACGTGTTTTTCAATATATTCTAGTCTAATAAATATTACTAATGATAGGTGAATAGGGACAAAAAATGGCAATTGAAGGTACTTCTTTCCAATCCACAGATGATTTCTAAACCCTTTTTCATCCACTCTCTGTAATTAATGAGAAGCTTGGAGAATTCCCAAGAAAACCCAGGTACTCTGTTGCCTCCATCCAGATCAACAGAACATTGCCTGGAACACTGGAGAGTCAGATTTGCAATCTCAAATTTACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTGCCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAGCCTTAAACACAAAACAAAACCATAGCTTTCTCTTAACACATGAGACAAAATCTAAAACCAAAGACTTGCTGTTTAAAATGCCTTATTTTAAGATGCAGCACAAAAAAAATTGCCTTTTAAACGGGGAGAATAGATGCAAAGGGAAAAACATGAGATAAAAATGAGAATTTGATGATCCAAGCAGCTCACAATAAAACTGGTGGCAACACCTGAACCCAGAGTTATACATTGGTATTTGTTACGTTTCCCATGACACAAAAGGAGCAAGATAAAGAAATATATTCTGACCAAGAACTTTATCATCTTTTTACAAAGGAGCACAATAAATTGAGAACTGCAGCAGGCTCTTTCAATTACATTGTTTTTCTAATTACTTCAGAGATAAGCCTGCCCCTGTTGACTCACATTGATGGTTGTGATAAAATTAGGCAGGGATTTCCCAACATTCTGCCATGCACCTGGTGGGCAGGTGCAGTCACAGCTGTGCTCAGTCCGCAGGCCACCAAGTGGAACCTCACTAACAGCCTGCAGGCAGCCACCATTCTCCTGAGCAACCAGCCACTGGTCTGCATTCAATAAAGTGAGAAACGGTGGGCAACCTGGAAGCAGGCAATGCCAAGAAATCATTTTCTAATTTATTTGTCTTCCAAAATTAATTTTTTTTTGTTTTATTTTTTTGCAATGGTGTCTTACACTGCCGCCTGGACTGAAGTGCAACGGCGCCATCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACTACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCTAGGCTCGTCTCCAATTCCCAACCTCATTAATCCGCCCGCCTCGGCCTCCCATACTGCTGGGATTACAGGTGTGAGCCACCACGTGAGCCAAAATTAATTGTTTAAAGAAACCGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAGACACAAAAACAAAATTAGCCAGGTTTGGTGACGGGAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGAAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCGAGATCACGCCACTACACTGCAGTCTGGGCGACAGAGCCAGACTTCATCTCAAAAAAACAAAACAAAAAAAAACTGGAGGCCAGGCTCAGTGGGTCCCTCCTGTAATCCCAGC	A	A89805285C	FANCA	NM_000135.4(FANCA):c.284-1328_705del	coding	Pathogenic
16	89808329	T	TACTC	G89808332T	FANCA	NM_000135.4(FANCA):c.560_561insGAGT:p.Gln188fs	coding	Pathogenic
16	89810733	AG	A	G89810735A	FANCA	NM_000135.4(FANCA):c.495del:p.Phe166fs	coding	Pathogenic
16	89814595	TAC	T	C89814599G	FANCA	NM_000135.4(FANCA):c.206_207del:p.Leu68_Cys69insTer	coding	Pathogenic
16	89815881	AG	A	G89815882C	FANCA	NM_000135.4(FANCA):c.184del:p.Glu63fs	coding	Pathogenic
16	89815947	G	GC	T89815951C	FANCA	NM_000135.4(FANCA):c.118dup:p.Ala40fs	coding	Pathogenic
16	89816613	CATG	C	A89816614G	FANCA	NM_000135.4(FANCA):c.-1_2del:p.Met1del	coding	Pathogenic
16	89917679	CAT	C	A89917680G	MC1R	Single_allele	noncoding	Benign
16	89920097	TC	T	C89920098A	MC1R	NM_002386.4(MC1R):c.840del:p.Phe280fs	coding	Pathogenic
16	89932544	A	AC	T89932552C	TUBB3	NM_006086.4(TUBB3):c.58-20dup	noncoding	Benign
17	562753	G	GA	C562765A	VPS53	NM_001128159.3(VPS53):c.1314-19dup	noncoding	Benign
17	602009	TAAA	T	A602010G	VPS53	NM_001128159.3(VPS53):c.1117-116_1117-114del	noncoding	Benign
17	623925	ATTTG	A	G623933A	VPS53	NM_001128159.3(VPS53):c.975-255_975-252del	noncoding	Benign
17	623933	GTTTA	G	A623953G	VPS53	NM_001128159.3(VPS53):c.975-279TAAA[4]	noncoding	Benign
17	627774	TCA	T	C627797A	VPS53	NM_001128159.3(VPS53):c.831+290TG[11]	noncoding	Benign
17	627774	T	TCA	A627799C	VPS53	NM_001128159.3(VPS53):c.831+290TG[13]	noncoding	Benign
17	655549	ACT	A	C655552G	VPS53	NM_001128159.3(VPS53):c.488+287_488+288del	noncoding	Benign
17	661520	C	CAAA	T661538A	VPS53	NM_001128159.3(VPS53):c.372+272_372+274dup	noncoding	Benign
17	661520	C	CAA	T661538A	VPS53	NM_001128159.3(VPS53):c.372+272_372+273dup	noncoding	Benign
17	661520	C	CA	T661538A	VPS53	NM_001128159.3(VPS53):c.372+272dup	noncoding	Benign
17	661542	CA	C	A661548C	VPS53	NM_001128159.3(VPS53):c.372+266del	noncoding	Benign
17	662024	AT	A	T662029C	VPS53	NM_001128159.3(VPS53):c.286-130del	noncoding	Benign
17	714997	TG	T	G715000C	VPS53	Single_allele	noncoding	Benign
17	715162	CG	C	G715166C	VPS53	Single_allele	noncoding	Benign
17	819420	C	CG	C819425G	NXN	NM_022463.5(NXN):c.820+18dup	noncoding	Benign
17	819423	GGC	G	G819424C	NXN	NM_022463.5(NXN):c.820+14_820+15del	noncoding	Benign
17	979304	GC	G	C979307G	NXN	NM_022463.5(NXN):c.360+14del	noncoding	Benign
17	1345289	TA	T	A1345307C	YWHAE	NM_006761.5(YWHAE):c.*157del	noncoding	Benign
17	1345289	T	TAA	C1345308A	YWHAE	NM_006761.5(YWHAE):c.*156_*157dup	noncoding	Benign
17	1345289	T	TA	C1345308A	YWHAE	NM_006761.5(YWHAE):c.*157dup	noncoding	Benign
17	1345511	GA	G	A1345518G	YWHAE	NM_006761.5(YWHAE):c.716-13del	noncoding	Benign
17	1361317	TA	T	A1361333T	YWHAE	NM_006761.5(YWHAE):c.372-20del	noncoding	Benign
17	1361317	T	TA	T1361334A	YWHAE	NM_006761.5(YWHAE):c.372-35dup	noncoding	Benign
17	1362010	TA	T	A1362023T	YWHAE	NM_006761.5(YWHAE):c.265-3del	noncoding	Benign
17	1362010	T	TA	T1362024A	YWHAE	NM_006761.5(YWHAE):c.265-15dup	noncoding	Benign
17	1365150	GA	G	A1365157C	YWHAE	NM_006761.5(YWHAE):c.65-93del	noncoding	Benign
17	1467579	T	TG	C1467586G	MYO1C	NM_001080779.2(MYO1C):c.2968-8dup	noncoding	Benign
17	1470036	A	AT	G1470037T	MYO1C	NM_001080779.2(MYO1C):c.2526+138_2526+139insA	noncoding	Benign
17	1472068	GC	G	C1472070T	MYO1C	NM_001080779.2(MYO1C):c.1904-45del	noncoding	Benign
17	1474427	CAA	C	A1474449G	MYO1C	NM_001080779.2(MYO1C):c.1797+181_1797+182del	noncoding	Benign
17	1474427	CA	C	A1474450G	MYO1C	NM_001080779.2(MYO1C):c.1797+182del	noncoding	Benign
17	1482800	G	GCACT	G1482801C	MYO1C	NM_001080779.2(MYO1C):c.546+60_546+61insAGTG	noncoding	Benign
17	1482801	G	GAC	C1482802A	MYO1C	NM_001080779.2(MYO1C):c.546+59_546+60insGT	noncoding	Benign
17	1484445	GGGGCCTGGGTGCTGA	G	C1484457T	MYO1C	NM_001080779.2(MYO1C):c.76-157_76-143del	noncoding	Benign
17	1506999	AGTTC	A	G1507000C	INPP5K	NM_016532.4(INPP5K):c.753_756del:p.Arg251fs	coding	Pathogenic
17	1509161	GC	G	C1509163A	INPP5K	NM_016532.4(INPP5K):c.554+16del	noncoding	Benign
17	1651778	T	TA	T1651780A	PRPF8	NM_006445.4(PRPF8):c.6379dup:p.Tyr2127fs	coding	Pathogenic
17	1678894	C	CA	C1678901A	PRPF8	NM_006445.4(PRPF8):c.1600-14dup	noncoding	Benign
17	1725176	CT	C	T1725177G	WDR81	NM_001163809.2(WDR81):c.218del:p.Leu73fs	coding	Pathogenic
17	1727792	CTGTT	C	T1727795A	WDR81	NM_001163809.2(WDR81):c.2836_2839del:p.Phe946fs	coding	Pathogenic
17	1735603	CA	C	A1735604G	WDR81	NM_001163809.2(WDR81):c.5212del:p.Ser1738fs	coding	Pathogenic
17	1754489	G	GC	A1754496C	SERPINF2	NM_000934.4(SERPINF2):c.1437dup:p.Met480fs	coding	Pathogenic
17	1766981	GC	G	C1766987G	SERPINF1	NM_002615.7(SERPINF1):c.77del:p.Pro26fs	coding	Pathogenic
17	1766981	G	GC	G1766988C	SERPINF1	NM_002615.7(SERPINF1):c.77dup:p.Glu27fs	coding	Pathogenic
17	1770026	A	ACGGCCCTCT	C1770047G	SERPINF1	NM_002615.7(SERPINF1):c.262GCCCTCTCG[3]:p.88ALS[3]	coding	Pathogenic
17	1771064	G	GCT	A1771071C	SERPINF1	NM_002615.7(SERPINF1):c.324_325dup:p.Tyr109fs	coding	Pathogenic
17	1771250	CT	C	T1771266G	SERPINF1	NM_002615.7(SERPINF1):c.439+82del	noncoding	Benign
17	1771250	CTT	C	T1771265G	SERPINF1	NM_002615.7(SERPINF1):c.439+81_439+82del	noncoding	Benign
17	1772096	TTTTCA	T	C1772100A	SERPINF1	NM_002615.7(SERPINF1):c.643+25_643+29del	noncoding	Benign
17	1776582	CCT	C	C1776583G	SERPINF1	NM_002615.7(SERPINF1):c.838_839del:p.Leu280fs	coding	Pathogenic
17	1777212	AG	A	G1777213A	SERPINF1	NM_002615.7(SERPINF1):c.1024del:p.Asp342fs	coding	Pathogenic
17	2036882	G	GT	G2036884T	DPH1	NM_001383.6(DPH1):c.607dup:p.Cys203fs	coding	Pathogenic
17	2040511	GAATCTCGACTCCGA	G	A2040512G	DPH1	NM_001383.6(DPH1):c.914_927del:p.Glu305fs	coding	Pathogenic
17	2595435	T	TTTTTC	G2595438T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.-191+1431_-191+1432insTTCTT	noncoding	Benign
17	2597742	TTCTC	T	T2597747A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.-191+3737TC[2]	noncoding	Benign
17	2597781	A	AGT	C2597800G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.-191+3776GT[10]	noncoding	Benign
17	2665190	CAG	C	A2665191G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.33-181_33-180del	noncoding	Benign
17	2667045	T	TGGAC	C2667050G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.247_250dup:p.Pro84fs	coding	Pathogenic
17	2670335	AG	A	G2670339T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.568+8del	noncoding	Benign
17	2672725	TA	T	A2672729C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.643del:p.Thr215fs	coding	Pathogenic
17	2673068	C	CA	G2673078A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.671+320dup	noncoding	Benign
17	2674181	AC	A	C2674182A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.794del:p.Thr265fs	coding	Pathogenic
17	2676556	AAG	A	G2676558C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.954_955del:p.Lys318fs	coding	Pathogenic
17	2680164	GTGGGTCATGATAAC	G	C2680170A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1009_1022del:p.His337fs	coding	Pathogenic
17	2680171	AT	A	T2680172G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1011del:p.His337fs	coding	Pathogenic
17	3476184	G	GA	C3476187A	ASPA	NM_000049.4(ASPA):c.27dup:p.His10fs	coding	Pathogenic
17	3476190	AT	A	T3476191A	ASPA	NM_000049.4(ASPA):c.32del:p.Ile11fs	coding	Pathogenic/Likely_pathogenic
17	3476385	G	GA	T3476390A	ASPA	NM_000049.4(ASPA):c.230dup:p.Asn77fs	coding	Pathogenic
17	3481610	AT	A	T3481611G	ASPA	NM_000049.4(ASPA):c.245del:p.Met82fs	coding	Pathogenic/Likely_pathogenic
17	3481686	ATT	A	T3481687C	ASPA	NM_000049.4(ASPA):c.321_322del:p.Ser108fs	coding	Pathogenic/Likely_pathogenic
17	3481723	CTCTA	C	T3481724A	ASPA	NM_000049.4(ASPA):c.358_361del:p.Ser120fs	coding	Pathogenic
17	3489569	A	AAAAG	C3489575A	ASPA	NM_000049.4(ASPA):c.634+229_634+232dup	noncoding	Benign
17	3494037	AT	A	T3494053G	ASPA	NM_000049.4(ASPA):c.635-297del	noncoding	Benign
17	3494407	A	AC	G3494413C	ASPA	NM_000049.4(ASPA):c.697dup:p.Arg233fs	coding	Pathogenic
17	3498971	CTG	C	G3498973A	ASPA	NM_000049.4(ASPA):c.827_828del:p.Cys276fs	coding	Pathogenic/Likely_pathogenic
17	3498975	AC	A	C3498977G	ASPA	NM_000049.4(ASPA):c.831del:p.Val278fs	coding	Pathogenic/Likely_pathogenic
17	3499021	AAG	A	G3499023A	ASPA	NM_000049.4(ASPA):c.877_878del:p.Glu293fs	coding	Pathogenic
17	3514705	C	CT	C3514706T	TRPV3	NM_145068.4(TRPV3):c.2199-34_2199-33insA	noncoding	Benign
17	3514825	AGTT	A	T3514830G	TRPV3	NM_145068.4(TRPV3):c.2199-156_2199-154del	noncoding	Benign
17	3530376	C	CGCACAAAGCTT	T3530390A	TRPV3	NM_145068.4(TRPV3):c.1066-184_1066-174dup	noncoding	Benign
17	3554660	T	TG	T3554668G	TRPV3	NM_145068.4(TRPV3):c.119+65dup	noncoding	Benign
17	3623505	C	CA	C3623511A	SHPK	NM_013276.4(SHPK):c.495-19dup	noncoding	Benign
17	3636418	G	GT	A3636419T	CTNS	NG_012489.2:g.4951_4952insT	noncoding	Pathogenic
17	3640228	AT	A	T3640233A	CTNS	NM_004937.3(CTNS):c.27del:p.Phe9fs	coding	Pathogenic
17	3640242	TC	T	C3640246T	CTNS	NM_004937.3(CTNS):c.40del:p.Pro13_Leu14insTer	coding	Pathogenic/Likely_pathogenic
17	3647462	CTG	C	G3647464T	CTNS	NM_004937.3(CTNS):c.82_83del:p.Val28fs	coding	Pathogenic
17	3647521	CG	C	G3647523T	CTNS	NM_004937.3(CTNS):c.140+1del	coding	Pathogenic
17	3648858	A	ACT	T3648859C	CTNS	NM_004937.3(CTNS):c.152_153insCT:p.Ala52fs	coding	Pathogenic
17	3656560	GGCCTCCTCTGGGT	G	T3656564C	CTNS	NM_004937.3(CTNS):c.539_551del:p.Leu180fs	coding	Pathogenic
17	3656585	AG	A	G3656587T	CTNS	NM_004937.3(CTNS):c.561+1del	coding	Pathogenic/Likely_pathogenic
17	3656724	AACG	A	A3656728T	CTNS	NM_004937.3(CTNS):c.611ACG[1]:p.Asp205del	coding	Pathogenic/Likely_pathogenic
17	3656781	TG	T	G3656782C	CTNS	NM_004937.3(CTNS):c.668del:p.Cys223fs	coding	Pathogenic
17	3656801	AC	A	C3656803A	CTNS	NM_004937.3(CTNS):c.681+8del	noncoding	Pathogenic
17	3657997	G	GC	A3658003C	CTNS	NM_004937.3(CTNS):c.682-3dup	noncoding	Benign
17	3658019	CGT	C	G3658022C	CTNS	NM_004937.3(CTNS):c.699_700del:p.Ser234fs	coding	Pathogenic
17	3658072	TCA	T	A3658074C	CTNS	NM_004937.3(CTNS):c.751_752del:p.Thr251fs	coding	Pathogenic
17	3658158	GTC	G	T3658159A	CTNS	NM_004937.3(CTNS):c.836_837del:p.Val279fs	coding	Pathogenic
17	3659856	AG	A	G3659858C	CTNS	NC_000017.10:g.3563151del	noncoding	Pathogenic
17	3660263	CA	C	A3660265C	CTNS	NM_004937.3(CTNS):c.1000del:p.Thr334fs	coding	Pathogenic
17	4242088	CA	C	A4242105T	ANKFY1	NM_001330063.2(ANKFY1):c.203+167del	noncoding	Benign
17	4536432	T	TG	A4536440G	SPNS2	NM_001124758.3(SPNS2):c.1607+13dup	noncoding	Benign
17	4536432	T	TGG	A4536440G	SPNS2	NM_001124758.3(SPNS2):c.1607+12_1607+13dup	noncoding	Benign
17	4536436	G	GA	G4536437A	SPNS2	NM_001124758.3(SPNS2):c.1607+10_1607+11insA	noncoding	Benign
17	4536439	G	GGA	A4536440G	SPNS2	NM_001124758.3(SPNS2):c.1607+13_1607+14insGA	noncoding	Benign
17	4744406	TGCAGTTTGTAGGTG	CCAC	T4744406C	ZMYND15	NM_001136046.3(ZMYND15):c.1622_1636delinsCCAC:p.Leu541fs	coding	Pathogenic
17	4744428	GC	G	C4744434G	ZMYND15	NM_001136046.3(ZMYND15):c.1650del:p.Glu551fs	coding	Pathogenic
17	4898788	GC	G	C4898792G	CHRNE	NM_000080.4(CHRNE):c.1429del:p.Ala477fs	coding	Pathogenic
17	4898893	T	TG	A4898898G	CHRNE	NM_000080.4(CHRNE):c.1327-6dup	noncoding	Benign
17	4898985	CTGGCTCCTGTCCCACCTCGCCGG	C	T4898990C	CHRNE	NM_000080.4(CHRNE):c.1319_1326+15del	noncoding	Pathogenic/Likely_pathogenic
17	4899036	CCACGAAGTTCACGGCATCCA	C	G4899040A	CHRNE	NM_000080.4(CHRNE):c.1271_1290del:p.Val424fs	coding	Pathogenic
17	4899060	A	AGCAGCGGACCTCGGGG	G4899079A	CHRNE	NM_000080.4(CHRNE):c.1251_1266dup:p.Cys423fs	coding	Pathogenic
17	4899099	A	AGAAGGCAGCTGGCGGG	A4899119G	CHRNE	NM_000080.4(CHRNE):c.1220-8_1227dup	coding	Pathogenic
17	4899252	GC	G	C4899253T	CHRNE	NM_000080.4(CHRNE):c.1164del:p.Lys388fs	coding	Pathogenic
17	4899258	T	TC	A4899260C	CHRNE	NM_000080.4(CHRNE):c.1158dup:p.Lys387fs	coding	Pathogenic
17	4899301	CGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCG	C	C4899304G	CHRNE	NM_000080.4(CHRNE):c.1076_1115del:p.Pro359fs	coding	Pathogenic
17	4899318	A	AGGCGGCCCGGGGGGCCTCG	G4899344C	CHRNE	NM_000080.4(CHRNE):c.1080_1098dup:p.Ser367fs	coding	Pathogenic
17	4899335	T	TCGGGCGGCGGCGGGGAGCCC	A4899356C	CHRNE	NM_000080.4(CHRNE):c.1062_1081dup:p.Glu361fs	coding	Pathogenic
17	4899352	GC	G	C4899355A	CHRNE	NM_000080.4(CHRNE):c.1064del:p.Gly355fs	coding	Pathogenic
17	4899474	CAGCCGCGGGGACATGGCGT	C	A4899475G	CHRNE	NM_000080.4(CHRNE):c.1007_1025del:p.His336fs	coding	Pathogenic
17	4899487	AT	A	T4899488G	CHRNE	NM_000080.4(CHRNE):c.1012del:p.Met338fs	coding	Pathogenic
17	4899513	GGA	G	G4899514C	CHRNE	NM_000080.4(CHRNE):c.985_986del:p.Ser329fs	coding	Pathogenic
17	4900775	C	CG	C4900781G	CHRNE	NM_000080.4(CHRNE):c.917+17dup	coding	Benign
17	4900880	A	AT	G4900882T	CHRNE	NM_000080.4(CHRNE):c.829dup:p.Ile277fs	coding	Pathogenic
17	4901138	G	GTGGTGGC	G4901146T	CHRNE	NM_000080.4(CHRNE):c.647_653dup:p.His218fs	coding	Pathogenic
17	4901199	CG	C	G4901204C	CHRNE	NM_000080.4(CHRNE):c.602-10del	coding	Benign
17	4901534	CCT	C	C4901537G	CHRNE	NM_000080.4(CHRNE):c.590_591del:p.Glu197fs	coding	Pathogenic
17	4901574	GTTGTCTACGGCAAAAGTGAACTC	G	T4901575C	CHRNE	NM_000080.4(CHRNE):c.529_551del:p.Glu177fs	coding	Pathogenic
17	4901594	ACTC	A	T4901596A	CHRNE	NM_000080.4(CHRNE):c.529_531del:p.Glu177del	coding	Pathogenic/Likely_pathogenic
17	4901884	GC	G	C4901893A	CHRNE	NM_000080.4(CHRNE):c.500+47del	coding	Benign
17	4901884	G	GC	A4901894C	CHRNE	NM_000080.4(CHRNE):c.500+39dup	coding	Benign
17	4901884	G	GCC	A4901894C	CHRNE	NM_000080.4(CHRNE):c.500+39_500+40dup	coding	Benign
17	4901992	A	ATGACCTC	C4901993T	CHRNE	NM_000080.4(CHRNE):c.439_440insGAGGTCA:p.Val147fs	coding	Pathogenic
17	4902243	CCA	C	A4902247G	CHRNE	NM_000080.4(CHRNE):c.316_317del:p.Trp106fs	coding	Pathogenic
17	4902310	C	CCT	G4902311C	CHRNE	NM_000080.4(CHRNE):c.250_251insAG:p.Arg84fs	coding	Pathogenic
17	4902691	C	CGGCTT	C4902697G	CHRNE	NM_000080.4(CHRNE):c.114_118dup:p.Arg40fs	coding	Pathogenic
17	4933876	GGA	G	A4933878C	GP1BA	NM_000173.7(GP1BA):c.1274_1275del:p.Glu425fs	coding	Pathogenic
17	4933907	ACCACCCCAGAGCCCAC	A	C4933909T	GP1BA	NM_000173.7(GP1BA):c.1305_1320del:p.Thr436fs	coding	Benign/Likely_benign
17	4933925	TCAGAGCCCGCCCCCAGCCCGACC	T	C4933926A	GP1BA	NM_000173.7(GP1BA):c.1322_1344del:p.Ser441fs	coding	Benign/Likely_benign
17	4933929	AGCCCGCCCC	A	G4933930C	GP1BA	NM_000173.7(GP1BA):c.1326_1334del:p.Glu442_Pro445delinsAsp	coding	Pathogenic
17	4934112	AG	A	G4934113C	GP1BA	NM_000173.7(GP1BA):c.1509del:p.Lys503fs	coding	Pathogenic
17	4934449	TAATGGCC	T	A4934450G	GP1BA	NM_000173.7(GP1BA):c.1846_1852del:p.Asn616fs	coding	Pathogenic
17	4948563	TC	T	C4948573G	PFN1	Single_allele	noncoding	Benign
17	4948563	T	TC	G4948574C	PFN1	Single_allele	noncoding	Benign
17	4952789	TC	T	C4952792A	ENO3	NM_053013.4(ENO3):c.86-3del	noncoding	Benign/Likely_benign
17	4955004	A	AC	G4955011C	ENO3	NM_053013.4(ENO3):c.445-65dup	noncoding	Benign
17	4955315	T	TG	C4955322G	ENO3	NM_053013.4(ENO3):c.667+24dup	noncoding	Benign
17	5001580	CT	C	T5001581A	KIF1C	NM_006612.6(KIF1C):c.363+180del	noncoding	Benign
17	5001603	TG	T	G5001604A	KIF1C	NM_006612.6(KIF1C):c.363+203del	noncoding	Benign
17	5002634	TAAAG	T	A5002635C	KIF1C	NM_006612.6(KIF1C):c.601_604del:p.Lys201fs	coding	Pathogenic
17	5002851	GCCC	G	C5002860A	KIF1C	NM_006612.6(KIF1C):c.720+18_720+20del	noncoding	Benign/Likely_benign
17	5002851	GC	G	C5002862A	KIF1C	NM_006612.6(KIF1C):c.720+20del	noncoding	Benign/Likely_benign
17	5003038	C	CT	A5003055T	KIF1C	NM_006612.6(KIF1C):c.720+212dup	noncoding	Benign
17	5003038	CT	C	T5003054A	KIF1C	NM_006612.6(KIF1C):c.720+212del	noncoding	Benign
17	5003617	T	TCC	A5003618C	KIF1C	NM_006612.6(KIF1C):c.726_727insCC:p.Lys243fs	coding	Pathogenic
17	5003654	GC	G	C5003656G	KIF1C	NM_006612.6(KIF1C):c.765del:p.Asp256fs	coding	Pathogenic
17	5004644	A	AG	T5004647G	KIF1C	NM_006612.6(KIF1C):c.1019+1dup	coding	Pathogenic
17	5013814	TTCCCTGGTGG	T	T5013822A	KIF1C	NM_006612.6(KIF1C):c.1571+90_1571+99del	noncoding	Benign
17	5014517	AAG	A	A5014520C	KIF1C	NM_006612.6(KIF1C):c.1572-223_1572-222del	noncoding	Benign
17	5034460	ACCTC	A	T5034467A	SLC52A1	NM_017986.4(SLC52A1):c.130+13_130+16del	noncoding	Benign
17	5432895	A	AT	C5432902T	C1QBP	NM_001212.4(C1QBP):c.*119dup	noncoding	Benign
17	5434739	T	TA	T5434741A	C1QBP	NM_001212.4(C1QBP):c.477+133dup	noncoding	Benign
17	5434773	AT	A	T5434785G	C1QBP	NM_001212.4(C1QBP):c.477+99del	noncoding	Benign
17	5434981	GAAAACAGACAAGGC	G	A5434997T	C1QBP	NM_001212.4(C1QBP):c.384-29_384-16del	noncoding	Benign
17	5439238	A	AC	T5439240C	C1QBP	Single_allele	noncoding	Benign
17	5521756	AT	GC	A5521756G	NLRP1	NM_033004.4(NLRP1):c.3550_3551delinsGC:p.Met1184Ala	coding	Benign
17	5541836	CT	C	T5541837G	NLRP1	NM_033004.4(NLRP1):c.2699+20del	noncoding	Benign
17	6425307	GT	G	T6425324A	AIPL1	NM_014336.5(AIPL1):c.*152del	noncoding	Benign
17	6425307	GTT	G	T6425323A	AIPL1	NM_014336.5(AIPL1):c.*151_*152del	noncoding	Benign/Likely_benign
17	6425603	GCT	G	C6425606G	AIPL1	NM_014336.5(AIPL1):c.1010_1011del:p.Glu337fs	coding	Pathogenic/Likely_pathogenic
17	6425761	GC	TT	G6425761T	AIPL1	NM_014336.5(AIPL1):c.853_854delinsAA:p.Ala285Lys	coding	Benign
17	6427010	A	AT	G6427013T	AIPL1	NM_014336.5(AIPL1):c.512dup:p.Asn171fs	coding	Pathogenic
17	6427024	AGGTCTCCCTCT	A	C6427028A	AIPL1	NM_014336.5(AIPL1):c.488_498del:p.Gln163fs	coding	Pathogenic
17	6428087	TA	T	A6428088G	AIPL1	NM_014336.5(AIPL1):c.465+230del	noncoding	Benign
17	6434356	C	CT	C6434375T	AIPL1	NM_014336.5(AIPL1):c.97-276dup	noncoding	Benign
17	6434356	C	CTT	C6434375T	AIPL1	NM_014336.5(AIPL1):c.97-276_97-275dup	noncoding	Benign
17	6434356	C	CTTT	C6434375T	AIPL1	NM_014336.5(AIPL1):c.97-276_97-274dup	noncoding	Benign
17	6434904	G	GT	G6434912T	AIPL1	NM_014336.5(AIPL1):c.96+98dup	noncoding	Benign
17	6457565	TCCCCGCCTCCAG	T	G6457577C	PITPNM3	NM_031220.4(PITPNM3):c.2619+17_2619+28del	noncoding	Benign
17	6461561	TG	CA	T6461561C	PITPNM3	NM_031220.4(PITPNM3):c.2307-6_2307-5inv	noncoding	Benign
17	6461568	GC	G	C6461569A	PITPNM3	NM_031220.4(PITPNM3):c.2307-13del	noncoding	Benign/Likely_benign
17	6477020	AG	A	G6477024C	PITPNM3	NM_031220.4(PITPNM3):c.1085+8del	noncoding	Benign
17	6477961	TC	T	C6477966G	PITPNM3	NM_031220.4(PITPNM3):c.900+13del	noncoding	Benign
17	6589554	AAAG	A	A6589558G	KIAA0753	NM_014804.3(KIAA0753):c.2786+222_2786+224del	noncoding	Benign
17	6596170	C	CAG	T6596172G	KIAA0753	NM_014804.3(KIAA0753):c.2345_2346insCT:p.Met782fs	coding	Pathogenic
17	6610344	A	AG	C6610349G	KIAA0753	NM_014804.3(KIAA0753):c.1546-188dup	noncoding	Benign
17	6624536	CCA	C	A6624570G	KIAA0753	NM_014804.3(KIAA0753):c.825+185TG[16]	noncoding	Benign
17	6624536	C	CCACACACACA	G6624572A	KIAA0753	NM_014804.3(KIAA0753):c.825+185TG[22]	noncoding	Benign
17	6624536	C	CCACACACA	G6624572A	KIAA0753	NM_014804.3(KIAA0753):c.825+185TG[21]	noncoding	Benign
17	6624536	C	CCACACA	G6624572A	KIAA0753	NM_014804.3(KIAA0753):c.825+185TG[20]	noncoding	Benign
17	6624536	C	CCACA	G6624572A	KIAA0753	NM_014804.3(KIAA0753):c.825+185TG[19]	noncoding	Benign
17	6624536	C	CCA	G6624572A	KIAA0753	NM_014804.3(KIAA0753):c.825+185TG[18]	noncoding	Benign
17	6624554	A	ACG	A6624556G	KIAA0753	NM_014804.3(KIAA0753):c.825+200_825+201insGC	noncoding	Benign
17	6687628	CA	C	A6687629G	SLC13A5	NM_177550.5(SLC13A5):c.1475del:p.Leu492fs	coding	Pathogenic
17	6693178	A	AACAC	C6693231A	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[28]	noncoding	Benign/Likely_benign
17	6693178	A	AAC	C6693231A	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[27]	noncoding	Benign/Likely_benign
17	6693178	AAC	A	A6693229C	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[25]	noncoding	Benign
17	6693178	AACAC	A	A6693227C	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[24]	noncoding	Benign
17	6693178	AACACACAC	A	A6693223C	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[22]	noncoding	Benign
17	6693178	AACACACACAC	A	A6693221C	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[21]	noncoding	Benign
17	6693178	AACACACACACAC	A	A6693219C	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[20]	noncoding	Benign
17	6693178	AACACACACACACACAC	A	A6693215C	SLC13A5	NM_177550.5(SLC13A5):c.1157-68GT[18]	noncoding	Benign
17	6694111	CT	C	T6694112G	SLC13A5	NM_177550.5(SLC13A5):c.1141del:p.Ser381fs	coding	Pathogenic/Likely_pathogenic
17	6702948	GAAGGTGCGACC	G	T6702953A	SLC13A5	NM_177550.5(SLC13A5):c.716+11_716+21del	noncoding	Benign/Likely_benign
17	6706976	AAG	A	G6706982A	SLC13A5	NM_177550.5(SLC13A5):c.231+46CT[2]	noncoding	Benign
17	7006058	GCC	G	C7006059G	ALOX12	NM_000697.3(ALOX12):c.1418+32_1418+33del	noncoding	Benign
17	7190805	TCCAC	A	T7190805A	DLG4	NM_001321075.3(DLG4):c.2074_2078delinsT:p.Val692fs	coding	Pathogenic
17	7192955	AC	A	C7192957T	DLG4	NM_001321075.3(DLG4):c.1855del:p.Val619fs	coding	Pathogenic
17	7193096	TC	T	C7193099G	DLG4	NM_001321075.3(DLG4):c.1714del:p.Glu572fs	coding	Pathogenic/Likely_pathogenic
17	7193113	CG	C	G7193114T	DLG4	NM_001321075.3(DLG4):c.1697del:p.Thr566fs	coding	Pathogenic
17	7194299	ACAGAGCCCAGGAGCCT	A	G7194302C	DLG4	NM_001321075.3(DLG4):c.1478+4_1478+19del	noncoding	Pathogenic
17	7194338	AC	A	C7194341A	DLG4	NM_001321075.3(DLG4):c.1458del:p.Phe487fs	coding	Pathogenic
17	7194362	C	CA	G7194364A	DLG4	NM_001321075.3(DLG4):c.1434dup:p.Asp479Ter	coding	Pathogenic/Likely_pathogenic
17	7196465	CCTGGTACCTT	C	A7196471T	DLG4	NM_001321075.3(DLG4):c.1184_1186+7del	noncoding	Pathogenic
17	7196814	CAGGATAAA	C	A7196815G	DLG4	NM_001321075.3(DLG4):c.1018_1025del:p.Phe340fs	coding	Pathogenic/Likely_pathogenic
17	7203229	CT	C	T7203231G	DLG4	NM_001321075.3(DLG4):c.605del:p.Lys202fs	coding	Pathogenic
17	7203514	CTT	C	T7203516G	DLG4	NM_001321075.3(DLG4):c.413_414del:p.Lys138fs	coding	Pathogenic
17	7203517	TGA	T	A7203519G	DLG4	NM_001321075.3(DLG4):c.410_411del:p.Leu137fs	coding	Pathogenic
17	7203589	TG	T	G7203590A	DLG4	NM_001321075.3(DLG4):c.339del:p.Asn114fs	coding	Pathogenic
17	7203783	C	CA	C7203785A	DLG4	NM_001321075.3(DLG4):c.243dup:p.Gly82fs	coding	Pathogenic
17	7204024	TC	T	C7204026T	DLG4	NM_001321075.3(DLG4):c.193del:p.Glu65fs	coding	Pathogenic
17	7204200	T	TA	T7204202A	DLG4	NM_001321075.3(DLG4):c.148dup:p.Tyr50fs	coding	Pathogenic/Likely_pathogenic
17	7219928	G	GCAGGACGCGGGCGTT	C7219937G	ACADVL	NM_000018.3(ACADVL):c.-49_-48insGGGCGTTCAGGACGC	coding	Benign
17	7219930	A	AGGACGCGGGCGTGCT	C7219937G	ACADVL	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCTGGACGC	coding	Benign
17	7219933	A	ACGCGGGCGTGCAGGC	C7219937G	ACADVL	NM_000018.3(ACADVL):c.-51_-49CG[2][1]	coding	Benign
17	7219936	C	CGGGCGGGCAGGACGG	C7219937G	ACADVL	NM_000018.3(ACADVL):c.-49_-48insGGGCGGGCAGGACGG	coding	Benign
17	7219936	C	CGGGCGTGCAGGACGA	C7219937G	ACADVL	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGA	coding	Benign
17	7220150	C	CCCCGG	T7220164G	ACADVL	NM_000018.4(ACADVL):c.100_104dup:p.Arg37fs	coding	Pathogenic
17	7220154	G	GGCCCGGCCCT	G7220172C	ACADVL	NM_000018.4(ACADVL):c.103_112dup:p.Arg38fs	coding	Pathogenic
17	7220749	TC	T	C7220754A	ACADVL	NM_000018.4(ACADVL):c.278-12del	noncoding	Benign
17	7220788	GT	G	T7220791C	ACADVL	NM_000018.4(ACADVL):c.303del:p.Glu104fs	coding	Pathogenic
17	7221044	C	CTT	G7221048T	ACADVL	NM_000018.4(ACADVL):c.465_466dup:p.Cys156fs	coding	Pathogenic
17	7221420	CACTGCCCTAGGTCAGGA	C	A7221446G	ACADVL	NM_000018.4(ACADVL):c.478-92_478-76del	noncoding	Benign
17	7221433	CAGGAACTGCCCTAGGT	C	A7221434C	ACADVL	NM_000018.4(ACADVL):c.478-104_478-89del	noncoding	Benign
17	7221528	TC	T	C7221532T	ACADVL	NM_000018.4(ACADVL):c.478-6del	noncoding	Benign
17	7221545	G	GT	G7221549T	ACADVL	NM_000018.4(ACADVL):c.488dup:p.Leu163fs	coding	Pathogenic
17	7221954	G	GA	G7221956A	ACADVL	NM_000018.4(ACADVL):c.626dup:p.Thr210fs	coding	Pathogenic
17	7221966	GCTTT	G	T7221969G	ACADVL	NM_000018.4(ACADVL):c.640_643del:p.Phe214fs	coding	Pathogenic
17	7221969	TTC	T	C7221971G	ACADVL	NM_000018.4(ACADVL):c.642_643del:p.Phe214fs	coding	Pathogenic
17	7222288	CG	C	G7222293C	ACADVL	NM_000018.4(ACADVL):c.869del:p.Gly290fs	coding	Pathogenic/Likely_pathogenic
17	7222677	GAGA	G	A7222684T	ACADVL	NM_000018.4(ACADVL):c.890AGA[2]:p.Lys299del	coding	Pathogenic/Likely_pathogenic
17	7222718	GT	G	T7222720C	ACADVL	NM_000018.4(ACADVL):c.932del:p.Phe311fs	coding	Pathogenic/Likely_pathogenic
17	7222782	GT	G	T7222784G	ACADVL	NM_000018.4(ACADVL):c.996del:p.Ala333fs	coding	Pathogenic/Likely_pathogenic
17	7222829	C	CCTGGCAGGTACCATGAGAGGCAT	A7222854T	ACADVL	NM_000018.4(ACADVL):c.1043_1065dup:p.Ile356delinsTrpGlnValProTer	coding	Pathogenic/Likely_pathogenic
17	7223148	A	AT	A7223149T	ACADVL	NM_000018.4(ACADVL):c.1093_1094insT:p.Asn365fs	coding	Pathogenic
17	7223167	AG	A	G7223168A	ACADVL	NM_000018.4(ACADVL):c.1113del:p.Ile373fs	coding	Pathogenic/Likely_pathogenic
17	7223191	T	TC	A7223194C	ACADVL	NM_000018.4(ACADVL):c.1138dup:p.Gln380fs	coding	Pathogenic
17	7223193	CAGG	C	G7223196A	ACADVL	NM_000018.4(ACADVL):c.1141_1143del:p.Glu381del	coding	Pathogenic
17	7223204	G	GGCAC	G7223210C	ACADVL	NM_000018.4(ACADVL):c.1151_1154dup:p.Met386fs	coding	Pathogenic
17	7223711	TC	T	C7223712A	ACADVL	NM_000018.4(ACADVL):c.1251del:p.Ser418fs	coding	Pathogenic
17	7223824	GA	G	A7223826G	ACADVL	NM_000018.4(ACADVL):c.1283del:p.Lys428fs	coding	Pathogenic/Likely_pathogenic
17	7224020	AG	A	G7224024A	ACADVL	NM_000018.4(ACADVL):c.1389del:p.Thr464fs	coding	Pathogenic
17	7224700	GGTGGTTCTCTCGA	G	T7224702G	ACADVL	NM_000018.4(ACADVL):c.1739_1751del:p.Val580fs	coding	Pathogenic
17	7224864	TG	T	G7224865T	ACADVL	NM_000018.4(ACADVL):c.1808del:p.Cys603fs	coding	Pathogenic
17	7311402	T	TA	C7311404A	EIF5A	NM_001970.5(EIF5A):c.324dup:p.Arg109fs	coding	Pathogenic
17	7414328	A	AC	T7414333C	NLGN2	NM_020795.4(NLGN2):c.509-12dup	noncoding	Benign
17	7448725	A	AT	G7448728T	CHRNB1	NM_000747.3(CHRNB1):c.759dup:p.Ala254fs	coding	Pathogenic
17	7454357	TG	T	G7454359C	CHRNB1	NM_000747.3(CHRNB1):c.883del:p.Ala295fs	coding	Pathogenic
17	7455918	CAGGAACAGG	C	A7455923C	CHRNB1	NM_000747.3(CHRNB1):c.1347_1355del:p.Glu449_Glu451del	coding	Pathogenic
17	7513774	CCA	C	C7513777A	POLR2A	NM_000937.5(POLR2A):c.5511_5512=:p.Pro1837_Lys1838=	coding	Benign
17	7585536	CCA	C	C7585537A	MPDU1	NM_004870.4(MPDU1):c.104-195_104-194del	noncoding	Benign
17	7586439	TAA	T	A7586452G	MPDU1	NM_004870.4(MPDU1):c.303-240_303-239del	noncoding	Benign
17	7668169	A	AGCCGTG	G7668180T	TP53	NC_000017.10:g.7571487_7571488insGCCGTG	noncoding	Benign
17	7669587	GGGGAACAAGAAGTGGAGAATGTCAGTCTGAGTCAGGCCCTTCTGTCTTGAACATGAGTTTTTTATGGCGGGAGGTAGACTGACCCTTTTTGGACTTCAGGTGGCTGTAGGAGACAGAAGCAGGGAGGAGAGATGACATCACATGAGTGAGAGGGTCTGTGCCCCTTTTCCCTGACCAATGCTTTGAAGGGCCTAAGGCTGGGACAACGGGAATTCAAATCAAGATGGTGGCCACACCCCATGCAAATATGTTTACTGAGCACCTCAGAGTATTAGTGTGTATTAGTCTCGTAATCTTCCCTTACCCCATTTTACTTTATTTATCTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGTGAGATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGGTAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTACTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGGCTCAAACTCCCGACCTCAGGTGATCCACTCGCCTTGGCCTCCCAGAGTGTGGGATTCGTGAGCCACTGCGCCCGGCCCCCTTACCCCATTTTATATATAAGGAAACTGAGTTTGACGGGGGTCACCTAGGACCTGCCGGTGCATGGCAGGGCTGAGTATATGACCTGAAACTCTGGCTGTATTCAGTATTACACAATTATTAGGCCCCTCCTTGAGACCCTCCAGCTCTGGGCTGGGAGTTGCGGAGAATGGCAAAGAAGTATCCACACTCGTCCCTGGGTTTGGATGTTCTGTGGATACACTGAGGCAAGAATGTGGTTATAGGATTCAACCGGAGGAAGACTAAAAAAATGTCTGTGCAGGGCTGGGACCCAATGAGATGGGGTCAGCTGCCTTTGACCATGAAGGCAGGATGAGAATGGAATCCTATGGCTTTCCAACCTAGGAAGGCAGGGGAGTAGGGCCAGGAAGGGGCTGAGGTCACTCACCTGGAGTGAGCCCTGCTCCCCCCTGGCTCCTTCCCAGCCTGGGCATCCTTGAGTTCCAAGGCCTCATTCAGCTCTCGGAACATCTCGAAGCGCTCACGCCCACGGATCTGCAGCAACAGAGGAGGGGGAGAAGTAAGTATATACACAGTACCTGAGTTAAAAGATGGTTCAAGTTACAATTGTTTGACTTTATGACGGTACAAAAGCAACATGCATTTAGTAGAAACTGCACTTCAAGTACCTATACAGCTGACTTTTAAAAATATTTATTTATTTATTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCGGGAGTGCAATGGTGCAATCTTGGCTGATTGCAATCTCCGCCTCTGGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCTACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGCTTCACCATGTTAGCCAGGCTGGTTTCCAACTCCTGACGTCAGGTGATCTACCCACCTCCACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCCTTTTTTAAATTTTAGAGATGATGTCTTGCTATGTTGTTCAGGCTGGACTCAAACTCTTGGGCTCAAGAGATCCTCCTGCCTTAGCCTCTCAAGTAACTGGGACTACATGTGCATGCGACTGTGCCTCGTTTCTTTTCTTTTTTTTCTGAGACGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCCCTGCAACCTCCGCCTCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCGGTTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCA	G	G7669589T	TP53	NM_000546.6(TP53):c.-19_*21del:p.Met1fs	noncoding	Pathogenic
17	7670680	CT	C	T7670681C	TP53	NM_000546.6(TP53):c.1028del:p.Glu343fs	coding	Pathogenic/Likely_pathogenic
17	7670694	C	CG	A7670696G	TP53	NM_000546.6(TP53):c.1014dup:p.Glu339fs	coding	Pathogenic
17	7673537	GA	G	A7673539G	TP53	NM_000546.6(TP53):c.990del:p.Gln331fs	coding	Pathogenic
17	7673544	G	GAA	T7673548A	TP53	NM_000546.6(TP53):c.982_983dup:p.Thr329fs	coding	Pathogenic
17	7673562	TG	T	G7673564T	TP53	NM_000546.6(TP53):c.965del:p.Pro322fs	coding	Pathogenic
17	7673581	GGA	G	A7673585G	TP53	NM_000546.6(TP53):c.945_946del:p.Gln317fs	coding	Pathogenic
17	7673582	G	GA	G7673584A	TP53	NM_000546.6(TP53):c.945dup:p.Pro316fs	coding	Pathogenic
17	7673595	G	GT	G7673598T	TP53	NM_000546.6(TP53):c.932dup:p.Asn311fs	coding	Pathogenic
17	7673699	AC	A	C7673701T	TP53	NM_000546.6(TP53):c.919+1del	noncoding	Pathogenic
17	7673700	C	CCTCGCTTAGTGCTCCCTGGGGGCAG	T7673730C	TP53	NM_000546.6(TP53):c.891_915dup:p.Ala307_Leu308insAlaProArgGluHisTer	noncoding	Pathogenic/Likely_pathogenic
17	7673717	T	TG	C7673723G	TP53	NM_000546.6(TP53):c.902dup:p.Gly302fs	coding	Pathogenic
17	7673727	TC	T	C7673728G	TP53	NM_000546.6(TP53):c.892del:p.Glu298fs	coding	Pathogenic/Likely_pathogenic
17	7673728	C	CG	T7673730G	TP53	NM_000546.6(TP53):c.891dup:p.Glu298fs	coding	Pathogenic
17	7673729	G	GTGGTGAGGCTCCCCTTTCT	C7673751G	TP53	NM_000546.6(TP53):c.872_890dup:p.His297fs	coding	Pathogenic
17	7673729	GT	G	T7673730G	TP53	NM_000546.6(TP53):c.890del:p.His297fs	coding	Pathogenic
17	7673739	T	TC	T7673744C	TP53	NM_000546.6(TP53):c.880dup:p.Glu294fs	coding	Pathogenic
17	7673751	CG	C	G7673753A	TP53	NM_000546.6(TP53):c.868del:p.Arg290fs	coding	Pathogenic
17	7673756	AT	A	T7673758C	TP53	NM_000546.6(TP53):c.863del:p.Asn288fs	coding	Pathogenic
17	7673757	TTCTCTTCCTCTGTGCGCCGG	T	T7673763C	TP53	NM_000546.6(TP53):c.843_862del:p.Asp281fs	coding	Pathogenic
17	7673772	C	CG	C7673774G	TP53	NM_000546.6(TP53):c.847dup:p.Arg283fs	coding	Pathogenic
17	7673784	CCAGGA	C	A7673789C	TP53	NM_000546.6(TP53):c.831_835del:p.Cys277fs	coding	Pathogenic
17	7673788	GACAGGCACAAACACGC	G	A7673791C	TP53	NM_000546.6(TP53):c.816_831del:p.Arg273fs	coding	Pathogenic
17	7673793	GCACAAACACGCAC	G	A7673795T	TP53	NM_000546.6(TP53):c.814_826del:p.Val272fs	coding	Pathogenic
17	7673794	CA	C	A7673795C	TP53	NM_000546.6(TP53):c.825del:p.Cys275fs	coding	Pathogenic
17	7673818	TC	T	C7673820G	TP53	NM_000546.6(TP53):c.801del:p.Asn268fs	coding	Pathogenic
17	7673828	TA	T	A7673829G	TP53	NM_000546.6(TP53):c.791del:p.Leu264fs	coding	Pathogenic
17	7673833	TA	T	A7673834C	TP53	NM_000546.6(TP53):c.786del:p.Asn263fs	coding	Pathogenic
17	7674193	AGT	A	T7674197A	TP53	NM_000546.6(TP53):c.768_769del:p.Leu257fs	coding	Pathogenic
17	7674205	G	GT	G7674207T	TP53	NM_000546.6(TP53):c.757dup:p.Thr253fs	coding	Pathogenic
17	7674210	GA	G	A7674211T	TP53	NM_000546.6(TP53):c.752del:p.Ile251fs	coding	Pathogenic
17	7674214	G	GTGAGGATGGTGAGGAT	G7674215T	TP53	NM_000546.6(TP53):c.748_749insATCCTCACCATCCTCA:p.Pro250fs	coding	Pathogenic
17	7674239	AG	A	G7674241A	TP53	NM_000546.6(TP53):c.723del:p.Cys242fs	coding	Pathogenic
17	7674240	GGAACTGT	G	G7674241T	TP53	NM_000546.6(TP53):c.716_722del:p.Asn239fs	coding	Pathogenic
17	7674241	GAACTGTT	A	G7674241A	TP53	NM_000546.6(TP53):c.715_722delinsT:p.Asn239fs	coding	Pathogenic
17	7674242	A	AACTGTTACACATGTAGTTGTAGTGGATGC	G7674271C	TP53	NM_000546.6(TP53):c.720_721insGCATCCACTACAACTACATGTGTAACAGT:p.Ser241fs	coding	Pathogenic
17	7674254	TG	T	G7674255T	TP53	NM_000546.6(TP53):c.708del:p.Asn235_Tyr236insTer	coding	Pathogenic
17	7674260	TGTAGTGGATGGTG	T	G7674264C	TP53	NM_000546.6(TP53):c.690_702del:p.Ile232fs	coding	Pathogenic
17	7674272	TG	T	G7674274T	TP53	NM_000546.6(TP53):c.690del:p.Thr231fs	coding	Pathogenic
17	7674278	AGT	A	G7674279C	TP53	NM_000546.6(TP53):c.683_684del:p.Asp228fs	coding	Pathogenic
17	7674289	A	AC	T7674292C	TP53	NC_000017.10:g.7577607_7577608insC	coding	Pathogenic
17	7674857	AC	A	C7674859T	TP53	NM_000546.6(TP53):c.672+1del	noncoding	Pathogenic
17	7674864	GCGGCT	G	G7674866A	TP53	NM_000546.6(TP53):c.662_666del:p.Glu221fs	coding	Pathogenic
17	7674865	C	CG	C7674868G	TP53	NM_000546.6(TP53):c.665dup:p.Pro223fs	coding	Pathogenic
17	7674872	TAGGGCACC	T	G7674874C	TP53	NM_000546.6(TP53):c.651_658del:p.Val217_Val218insTer	coding	Pathogenic
17	7674881	AC	A	C7674883A	TP53	NM_000546.6(TP53):c.649del:p.Val217fs	coding	Pathogenic
17	7674885	CA	C	A7674886C	TP53	NM_000546.6(TP53):c.645del:p.Ser215fs	coding	Pathogenic
17	7674898	AGT	A	G7674901T	TP53	NM_000546.6(TP53):c.631_632del:p.Thr211fs	coding	Pathogenic
17	7674928	C	CA	T7674932A	TP53	NM_000546.6(TP53):c.602dup:p.Leu201fs	coding	Pathogenic
17	7674945	GGATAA	G	A7674949G	TP53	NM_000546.6(TP53):c.581_585del:p.Leu194fs	coding	Pathogenic
17	7674955	CT	C	T7674956G	TP53	NM_000546.6(TP53):c.575del:p.Gln192fs	coding	Pathogenic
17	7674959	G	GACCT	G7674960A	TP53	NM_000546.6(TP53):c.571_572insAGGT:p.Pro191fs	coding	Pathogenic
17	7674979	CAATCAGTGAGG	C	T7674986A	TP53	NM_000546.6(TP53):c.560-19_560-9del	noncoding	Pathogenic
17	7675084	G	GA	C7675085A	TP53	NM_000546.6(TP53):c.527_528insT:p.His178fs	coding	Pathogenic
17	7675108	GTGCTGTGACTGCTTGTAGATGGCCA	G	C7675111G	TP53	NM_000546.6(TP53):c.479_503del:p.Met160fs	coding	Pathogenic
17	7675123	G	GTAGA	G7675129A	TP53	NM_000546.6(TP53):c.485_488dup:p.Lys164fs	coding	Pathogenic
17	7675149	T	TGCCGG	G7675157C	TP53	NM_000546.6(TP53):c.458_462dup:p.Thr155fs	coding	Pathogenic
17	7675156	C	CA	G7675157A	TP53	NM_000546.6(TP53):c.455_456insT:p.Pro153fs	coding	Pathogenic
17	7675181	TG	T	G7675182C	TP53	NM_000546.6(TP53):c.430del:p.Gln144fs	coding	Pathogenic
17	7675181	T	TG	C7675183G	TP53	NM_000546.6(TP53):c.430dup:p.Gln144fs	coding	Pathogenic
17	7675184	ACAGGGCAGGT	A	A7675186T	TP53	NM_000546.6(TP53):c.418_427del:p.Thr140fs	coding	Pathogenic
17	7675186	AG	A	G7675189C	TP53	NM_000546.6(TP53):c.425del:p.Pro142fs	coding	Pathogenic
17	7675208	CA	C	A7675212C	TP53	NM_000546.6(TP53):c.403del:p.Cys135fs	coding	Pathogenic
17	7675221	TG	T	G7675222A	TP53	NM_000546.6(TP53):c.390del:p.Asn131fs	coding	Pathogenic
17	7675223	AG	A	G7675226C	TP53	NM_000546.6(TP53):c.388del:p.Leu130fs	coding	Pathogenic
17	7675978	CCTCAGGGCAACTGA	C	T7675980C	TP53	NM_000546.6(TP53):c.375+2_375+15del	noncoding	Pathogenic
17	7676014	CT	C	T7676015G	TP53	NM_000546.6(TP53):c.354del:p.Ala119fs	coding	Pathogenic
17	7676017	TCCCAGAA	GGCT	T7676017G	TP53	NM_000546.6(TP53):c.345_352delinsAGCC:p.His115fs	coding	Pathogenic
17	7676029	AGAAGCCCAGACGGAAACC	A	A7676031T	TP53	NM_000546.6(TP53):c.322_339del:p.Gly108_Phe113del	coding	Pathogenic/Likely_pathogenic
17	7676037	AGACGG	A	G7676038A	TP53	NM_000546.6(TP53):c.327_331del:p.Arg110fs	coding	Pathogenic
17	7676037	AG	A	G7676038A	TP53	NM_000546.6(TP53):c.331del:p.Leu111fs	coding	Pathogenic
17	7676045	A	AC	G7676048C	TP53	NM_000546.6(TP53):c.323dup:p.Arg110fs	coding	Pathogenic
17	7676064	G	GT	C7676069T	TP53	NM_000546.6(TP53):c.304dup:p.Thr102fs	coding	Pathogenic
17	7676064	GT	G	T7676068C	TP53	NM_000546.6(TP53):c.304del:p.Thr102fs	coding	Pathogenic
17	7676070	TGGGAA	T	A7676075C	TP53	NM_000546.6(TP53):c.294_298del:p.Ser99fs	coding	Pathogenic
17	7676089	ACAGGGGC	A	G7676094A	TP53	NM_000546.6(TP53):c.273_279del:p.Trp91fs	coding	Pathogenic/Likely_pathogenic
17	7676090	C	CAGAAGGAAGGGACAGAAGGA	G7676093A	TP53	NM_000546.6(TP53):c.278_279insTCCTTCTGTCCCTTCCTTCT:p.Ser94fs	coding	Pathogenic
17	7676098	AGGAGGGGGCT	A	A7676101T	TP53	NM_000546.6(TP53):c.261_270del:p.Ala88fs	coding	Pathogenic
17	7676100	G	GAGGGGCAGGGGCAGGGGCCAGGAGGGGC	G7676106C	TP53	NM_000546.6(TP53):c.268_269insGCCCCTCCTGGCCCCTGCCCCTGCCCCT:p.Ser90fs	coding	Pathogenic
17	7676106	GC	G	C7676107T	TP53	NM_000546.6(TP53):c.262del:p.Ala88fs	coding	Pathogenic
17	7676112	GCAGGGGCCGC	G	A7676114G	TP53	NM_000546.6(TP53):c.247_256del:p.Ala83fs	coding	Pathogenic
17	7676114	A	AG	C7676119G	TP53	NM_000546.6(TP53):c.254dup:p.Ala86fs	coding	Pathogenic
17	7676123	CG	C	G7676125T	TP53	NM_000546.6(TP53):c.245del:p.Pro82fs	coding	Pathogenic
17	7676124	G	GGTGTAGGAGCTGCTGGT	C7676143T	TP53	NM_000546.6(TP53):c.228_244dup:p.Pro82fs	coding	Pathogenic
17	7676141	T	TG	C7676143G	TP53	NM_000546.6(TP53):c.227dup:p.Pro77fs	coding	Pathogenic
17	7676144	AG	A	G7676148C	TP53	NM_000546.6(TP53):c.224del:p.Pro75fs	coding	Pathogenic
17	7676163	GC	G	C7676165T	TP53	NM_000546.6(TP53):c.205del:p.Ala69fs	coding	Pathogenic
17	7676168	TG	T	G7676170C	TP53	NM_000546.6(TP53):c.200del:p.Pro67fs	coding	Pathogenic
17	7676195	TG	T	G7676198T	TP53	NM_000546.6(TP53):c.173del:p.Pro58fs	coding	Pathogenic
17	7676204	AGTGAACCATT	A	G7676207T	TP53	NM_000546.6(TP53):c.155_164del:p.Gln52fs	coding	Pathogenic
17	7676206	TGAACC	AT	T7676206A	TP53	NM_000546.6(TP53):c.158_163delinsAT:p.Trp53fs	coding	Pathogenic
17	7676206	TG	T	G7676207A	TP53	NM_000546.6(TP53):c.162del:p.Phe54fs	coding	Pathogenic
17	7676210	C	CCAT	T7676214C	TP53	NM_000546.6(TP53):c.156_158dup:p.Trp53Ter	coding	Pathogenic
17	7676220	A	AT	A7676222T	TP53	NM_000546.6(TP53):c.148dup:p.Ile50fs	coding	Pathogenic
17	7676228	C	CG	A7676233G	TP53	NM_000546.6(TP53):c.140dup:p.Asp48fs	coding	Pathogenic
17	7676236	GCATCAAATC	G	C7676237A	TP53	NM_000546.6(TP53):c.124_132del:p.Asp42_Met44del	coding	Pathogenic
17	7676244	TCATCCATTGCTTGGGA	T	A7676246G	TP53	NM_000546.6(TP53):c.109_124del:p.Ser37fs	coding	Pathogenic
17	7676249	C	CA	T7676251A	TP53	NM_000546.6(TP53):c.119dup:p.Met40fs	coding	Pathogenic
17	7676259	GA	G	A7676260C	TP53	NM_000546.6(TP53):c.109del:p.Ser37fs	coding	Pathogenic
17	7676263	GC	G	C7676264A	TP53	NM_000546.6(TP53):c.105del:p.Leu35fs	coding	Pathogenic
17	7676264	CA	C	A7676266G	TP53	NM_000546.6(TP53):c.104del:p.Leu35fs	coding	Pathogenic
17	7676266	AG	A	G7676271A	TP53	NM_000546.6(TP53):c.102del:p.Leu35fs	coding	Pathogenic
17	7676266	AGG	A	G7676270A	TP53	NM_000546.6(TP53):c.101_102del:p.Pro34fs	coding	Pathogenic
17	7676382	CA	C	A7676383G	TP53	NM_000546.6(TP53):c.95del:p.Leu32fs	coding	Pathogenic
17	7676384	GA	G	A7676386C	TP53	NM_000546.6(TP53):c.93del:p.Leu32fs	coding	Pathogenic
17	7676387	CG	C	G7676388T	TP53	NM_000546.6(TP53):c.90del:p.Asn30fs	coding	Pathogenic
17	7676388	GT	G	T7676390G	TP53	NM_000546.6(TP53):c.89del:p.Asn30fs	coding	Pathogenic
17	7676397	AG	A	G7676399A	TP53	NM_000546.6(TP53):c.80del:p.Pro27fs	coding	Pathogenic
17	7676522	G	GT	C7676526T	TP53	NM_000546.6(TP53):c.72dup:p.Leu25fs	coding	Pathogenic
17	7676522	GT	G	T7676525C	TP53	NM_000546.6(TP53):c.72del:p.Lys24fs	coding	Pathogenic
17	7676938	AT	A	T7676954G	TP53	NM_000546.6(TP53):c.-28-317del	noncoding	Benign
17	7676938	ATT	A	T7676953G	TP53	NM_000546.6(TP53):c.-28-318_-28-317del	noncoding	Benign
17	7688193	C	CG	C7688201G	WRAP53	NM_001143990.2(WRAP53):c.-1-448dup	noncoding	Benign
17	7700547	T	TA	G7700560A	WRAP53	NM_001143992.2(WRAP53):c.643-182dup	noncoding	Benign
17	7703404	CG	GA	C7703404G	WRAP53	NM_001143992.2(WRAP53):c.1565_1566delinsGA:p.Ala522Gly	coding	Benign
17	7846859	TACCACCACC	T	A7846890C	KDM6B	NM_001348716.2(KDM6B):c.753ACC[10]:p.Pro262_Pro264del	coding	Benign
17	7846859	TACC	T	A7846896C	KDM6B	NM_001348716.2(KDM6B):c.753ACC[12]:p.Pro264del	coding	Benign/Likely_benign
17	7846859	T	TACCACCACC	C7846899A	KDM6B	NM_001348716.2(KDM6B):c.753ACC[16]:p.Pro262_Pro264dup	coding	Benign
17	7846859	T	TACCACC	C7846899A	KDM6B	NM_001348716.2(KDM6B):c.753ACC[15]:p.Pro263_Pro264dup	coding	Benign
17	7846859	T	TACC	C7846899A	KDM6B	NM_001348716.2(KDM6B):c.753ACC[14]:p.Pro264dup	coding	Benign/Likely_benign
17	7847265	GA	G	A7847267G	KDM6B	NM_001348716.2(KDM6B):c.1072del:p.Ser358fs	coding	Pathogenic
17	7847582	GTC	G	T7847587A	KDM6B	NM_001348716.2(KDM6B):c.1299_1300del:p.His434fs	coding	Pathogenic
17	7848446	G	GC	A7848453C	KDM6B	NM_001348716.2(KDM6B):c.2164dup:p.Gln722fs	coding	Pathogenic
17	7848540	TCACCAC	T	C7848568G	KDM6B	NM_001348716.2(KDM6B):c.2253CAC[9]:p.Thr761_Thr762del	coding	Benign/Likely_benign
17	7849332	G	GC	G7849335C	KDM6B	NM_001348716.2(KDM6B):c.3046dup:p.Arg1016fs	coding	Pathogenic
17	7885025	C	CCCG	A7885049G	CHD3	NM_001330111.2(NAA38):c.-167+119CGG[8]	coding	Benign
17	7909287	T	TC	A7909290C	CHD3	NM_001005273.3(CHD3):c.5541dup:p.Lys1848fs	coding	Pathogenic
17	8003220	TC	T	C8003222T	GUCY2D	NM_000180.4(GUCY2D):c.175del:p.Leu59fs	coding	Pathogenic
17	8003529	C	CG	C8003532G	GUCY2D	NM_000180.4(GUCY2D):c.484dup:p.Ala162fs	coding	Pathogenic
17	8003609	AC	A	C8003611G	GUCY2D	NM_000180.4(GUCY2D):c.564del:p.Ala189fs	coding	Pathogenic
17	8003736	TGAGG	T	G8003737A	GUCY2D	NM_000180.4(GUCY2D):c.690_693del:p.Lys232fs	coding	Pathogenic
17	8003954	TC	T	C8003956T	GUCY2D	NM_000180.4(GUCY2D):c.826del:p.Leu276fs	coding	Pathogenic/Likely_pathogenic
17	8006696	AACAACAT	A	A8006697C	GUCY2D	NM_000180.4(GUCY2D):c.1361_1367del:p.Asn454fs	coding	Pathogenic
17	8013090	TC	T	C8013094A	GUCY2D	NM_000180.4(GUCY2D):c.2114-9del	noncoding	Benign
17	8015428	TC	T	C8015429A	GUCY2D	NM_000180.4(GUCY2D):c.2871del:p.Ser958fs	coding	Pathogenic
17	8015455	GC	G	C8015457A	GUCY2D	NM_000180.4(GUCY2D):c.2899del:p.His967fs	coding	Pathogenic/Likely_pathogenic
17	8016428	GC	G	C8016433T	GUCY2D	NM_000180.4(GUCY2D):c.3225-10del	noncoding	Benign
17	8017292	GGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGAGATGGGGTTTCAGCATGTTGCCCAGGGTGGTCTTGAACTGACATCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGACACCGCGCCTGACCTTTGCAGCAATTATCAATGCCCTGTCCTGGCAAGTCCCCAGTTGAAGTTGCCTTTGTGAAACTCTGACCTTCCAGAGCCTGGGCCTTGGCACATTTGACTCTTGGTGTCTGTCACCATTGCTACAGACCCTGGAAGAAGTTTGCAGCAGGCTAGGAAACCACCTAGGCTGCCACCAGAGGTAGTGAGTGTCCAGTCCCTGGAGGTGTGAAGGCAGAACTGGAGACATCATTGACCAGGGATACGACAGTGAGAGGGAATTCCGGAACTGAACCTTCACTACACCAAGTGTGGTTGGTGGGCCAGGGTCGGCACTGCCTGTGAGCTCATTAGAAATGAAGGATCTCAGGGCCCCACCCCAGACCTGCTGAGTCTGGATCTGCATTTTAACAAGTTCCTACAAAATATTGACACGCTCATTAAAGTTTCTGAATCATAGAACTAAATCACCCTAAGATCTTTAAATCTTAGAATCTCTAAGATCTCATAAAGCCAGGCTACAAACTAGCCACCAAATTTCTTTTGTTTGGCCTATAGAGTGTTTTGTTTTGAGCTAACATTTAAAAATCAACAGCTTCCACATTTTAAAAATGTATAGCAGATTTCCCCCTTCTCTTGAAATCAGAAGCCCCACATGGTGCTTGTGTCACCACTTAACCACATTCTGCTGCAGCTAAACAGCAACAGTCCCCTTTATCCAGATGTCGCCACTCCCCACAGACTCCGAGACACCAAGATTTTTTGAACATTCCTTTATATTCCTGCCTGGTGCCTGTAGACATTGAGCTTAGGACTCCTTAGCAGGTATTAGGATTACAGGGGCTCCTGGACGGGACTTTGCCTTCTTTTTTTTTTTTTTAAACTGATTCATGACTTCCACAAGCTTAGTGGTATTCCCCTCCTTCCTAAAGGTGAAGGAAGAATGTATCAAACATCGAGAATCCAGCACTTGTAAGTTCTGGTTACCGAAGGTGATGTTGCTACAGAGAGCAATTTAGTGCAATTTTAAAAACATTTTAAATTGAATTTAAATACGATGAATTAAAGATTAAAAACAAAACAAAACCCGGGCATGCACACACACACATTTTTAAAAGTTATTTACATTCTTGAAGATTTTCCTTAAGATTTTCTCTGTACTTAGGTCCCAGGGATTGAAGCGCAGATTCACATCTCTGGCCTTGGACCTGACTGTGTGGATAGAGCTCTCAGCCTCCTGTCTCTTCCCTCCCGTACCCGACCCTGCAGCCCTTCCCCTTCCTTCCCTCTCTCCCTGCCTGCAAGGGCCTGGAGTAGTTAATGGTGTGTGATTTCGGCTGCCTCAAGGAAGAGTCCAGGATTAGGTGCAGAGGGATTAGCTGGGACAGGCTTAGGCAGGGCTCCTCCCGGAAGCAGAGGCGGATGAGCCAGAGGGCAGACCCAGTTTAAGGTAGAAGTGGAGTGGGCAGGGCTGAGCCAGTTCCTTCCCACCTTCACTCAGCCTCCTTCCCAGGCTGGCCTCAAGCTCAAGTGACCAGATGTGATAGAAGAGCCCTGACCCCTCCCCAGCTAGAAGAACTTGGGGAACCCCCACCCCAGAGTTCACAGATCTAGTGGGAGAAGAGAAGGCAAAAGATGAAGCCTCAGCCTCCTCTCTGTGCCTCAGCCTCTCCTTTCTCTGTTCCTGCCTCCCTTTCTGCTCTATTCTCCTGTCTTTGTGTCCCCACAGTCCCCTTTCTGCCTGGCAGTCTCTGTCTGCCTTTCTCTGCAGTTTCCACCATTTCTCTGGAAATCTTATTTCCTGGACCCAGTCGGTTATCCAGTCTCAGGGCTCTGCTGACTCAAGTCCTCCCCACCCTGTTCCTGTGGCCTGGGCAACTCCCAGCGCATGAGAGCACCGGGGCCTGGCTTGGTCACTGGGCATCCCCCACCTTCAGATGTGTTTACACTACCTCTGCCAGCTGGCCTGCGCCAGGAGCCCACACTTGCGGTTGTCCTTGCCTTGGAGATGGCTCTGTAGCTGGCAGAGCAGTGATGGCCAAAGCAGGGACCTCTCATAGCTGCTGCTTCAATCCCACGGCAGAGACTCTACAGCGTGTCCCGGGGCTCACCTGGCGCCTTTTTTTTTTTTTTTTTTTTTTTTGTGCTTCTCCTTAGGGTCTGGGCCCTGCTCCCTGTCCCATCTGCAGTGGACCCCAGGCACCCCCCTTTGAGGAGGTGGGGTGAACTGCTCCTTGGCAGGGATTTGTGACACTGCATTGCTGGGCTGTGTTCCTCGGGCTCTTCTGGACCTTGCACCGTGGATACCAGGCCATGTGCCATGGTATTTGGGTCCTGGGAGGGTGGGTGAAATAAAGGCATGCTGTCTTCCATGTTGTGGTGTGTGCTGCTTTTAGCCAGGAGAGTAGTCTCGACACCCCCATCTCTGGAACGCTCAGCCCTGCCATTTCCAGGGAGGGTTTCAGATAGGGTTGAACCTTAGAGATGGCCTGAAGAGGGGAAGTGGCCGGGGCCAACAGCTCCCAGGAACTCCTCTGCTCAGAGAACCAGTTGGGGAAGTCTCGGGCCTCTCAGGCTGCTGGAAAAGACCAGGGTCTCTGACGCTTTTAAGGTGGGTGATGTGGCTTCATCCCTTGATTGTATGCAGGAGGGAAGAAGGAAGAGAAGGACAGAGCTTGTCTATGCCATGACTCCATGACCCATGGACCATAACCTACAAACATGGGAGCCAGAGTCCAAGACTGAAGGAACAGGGCCCCCAGATGGGAAAGGTGAGGTCCACTGGTCTCTGGGCAGGACCTCATCAACAACCCACACTCCACCTCTGACCCTTCACAAACCTGCCCCTGGAGCTTCAGAGCAGGAGAGACTATCCCAAAATCACCAGTGGGTGACTGGCCCCTAAGTCTTCCGGGAGCCCAGCTGTTCCCGTGCCAGGCCCAATGTCCCAGACAGGATGACCTGTAATGGACATCGACTGTGCTGCCTTCCTACATCCATCCTGCTGGGCAGTGGGCAGCCATCTGTGCCCCATTCTTAATCCCAGTGGAAGTGGCTAGAACTGACTGCTGACTTCCCCCTTCAGGCCAGCCCAATCATTCCGTTCCTCTGGCCTCAAAGACAGATGAGCTGGGCCAGGCTGATGAAGCTCGGTGCTGGGACGTTGTTTGAAGCCATGGGGAGAAATTGTCTTCTTGGGGGGTTGCTGAGAGGATGGGACATTGAGAGATCCTTGCCACCACAAAGACAGAGCTGAACTGGCAGATGGAGAGAGACAAAGTCCTGATGGCTACTGTCTGAGCTGGGATACCTCACTGGGCCTAAAGCCAAGTCCGGCTGTTTAAGCAACATGGGCCAGCAAATTATTTTCTTTGCTTAAGCCAGGTTGCGTTGGGTTCTTTCTTTTCTTTCTTTCTTCCTTTCTTTCCTTTCTCTTTTCTTTCTCTTCTTTCTTTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTTTCATACCTCAAAACCCTCACGATGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTGGGGTGGCTGAGGTAAGAGAATCACTAGAGCCTAGGAGTTCTAGACCAGCCTGGGCAACATAGCAAAATCTTGTCTCTACAAAACACAAAAATTAGCCAAGCATGGTGGTGCACACCTGCAGTCCCAGCTACTCCGGAGGCTGAGGCAGGATGATCACTTGAGCCCGGAAGGTCAAGGTTGCAGTGAGCTGAGATCACACCACTGCATTCCAGAGCGAGACTGTCACAAACAAACAAAAACCTTCGTGATGTTTTCACGGTGATGAAATGTTGGTCCATTTGATTACGATGTGCTGATGGCTGCAAGTTCAACAGGTGGCTTTCCCATCTACTCCACCTCCTCACCCAAACCACTATGCCAAGCAGACACCTATCCATAGCCACGCACTTTATGGCCTCGCCTCAACATCATTCCCTTTGTCTCTGGCCAGCATGTCATCTCCTAGGCCTCTCTCTCAGCCTTGATCACCCACTCCCAAGCTGCATGCCTCCATCGGCATATTCCTATTGCAACTATCAACCAGGGGCCGCTGAGGCCACAGGGGTTCTCCTGCATGGACTGGCTGGTCCTCAACCACAGTCCCTGGGGTCACCTCTCCCAGGGCTTAGCCTTTATCCAAGGATAAAGGGATGGGCACCCAGAGCTCCTGCCACACTCTCTTCCAGGGCAGAGGCGAGGGCAGGGTAGGTCGCGGCCCCAGTGGAAACAAGGCCTGAGGGACTGCATACCCAGCTTTGAAGGTCTGCCCTGGAAGGCCCCAGACTGCTTCAGGCTCTGAAAAGGCAATGAGGAGGGTCCAGTGCTGAGCTCTTATCCTCAATGATGCCAAGGGGTGGAAGCCTTTCTGGCGCTTGGAGAAGAGGCCCAGCCATGGGGTGGCTGAAATAGATGATCTCAGATTATCTCAAGACCAGAGCTGATCCCAGAAACTGGTCCTTCCCTGAGTAAATGCTTCCCAGAGAAGGCCAGAGGACATGCCCTGTGATGATGCAGCTGTACAAGATGCTCCACTGGGAGCCAGAAGGGAAGCAGAGCTGGAGGTCCTGTGCTCCTCTTTTGAAGAAGGGA	G	C8017296G	ALOXE3	Single_allele	noncoding	Pathogenic
17	8072477	CG	C	G8072481C	ALOX12B	Single_allele	noncoding	Benign
17	8072839	T	TGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAG	A8072884T	ALOX12B	NM_001139.3(ALOX12B):c.2005_2037dup:p.Leu669_Arg679dup	coding	Pathogenic
17	8072854	C	CGT	A8072860T	ALOX12B	NM_001139.3(ALOX12B):c.2021_2022dup:p.Asp675fs	coding	Pathogenic
17	8072864	CT	C	T8072865G	ALOX12B	NM_001139.3(ALOX12B):c.2012del:p.Gln671fs	coding	Pathogenic
17	8072899	TC	T	C8072901G	ALOX12B	NM_001139.3(ALOX12B):c.1977del:p.Arg660fs	coding	Pathogenic
17	8072939	T	TC	A8072943C	ALOX12B	NM_001139.3(ALOX12B):c.1937dup:p.His647fs	coding	Pathogenic
17	8073730	GGCACGGTTCGCAA	G	G8073735C	ALOX12B	NM_001139.3(ALOX12B):c.1669_1681del:p.Arg558fs	coding	Pathogenic
17	8075622	CTT	C	T8075624A	ALOX12B	NM_001139.3(ALOX12B):c.1625_1626del:p.Lys542fs	coding	Pathogenic
17	8076668	GC	G	C8076675T	ALOX12B	NM_001139.3(ALOX12B):c.1350del:p.Leu451fs	coding	Pathogenic
17	8076680	TGAG	T	G8076684A	ALOX12B	NM_001139.3(ALOX12B):c.1333CTC[1]:p.Leu446del	coding	Pathogenic
17	8076871	TCCCCAGATGCC	T	A8076878G	ALOX12B	NM_001139.3(ALOX12B):c.1275+108_1275+118del	noncoding	Benign
17	8077106	A	AG	C8077108G	ALOX12B	NM_001139.3(ALOX12B):c.1158dup:p.Tyr387fs	coding	Pathogenic
17	8079394	A	AC	T8079397C	ALOX12B	NM_001139.3(ALOX12B):c.1071+1dup	noncoding	Pathogenic
17	8079448	AG	A	G8079454C	ALOX12B	NM_001139.3(ALOX12B):c.1018del:p.Leu340fs	coding	Pathogenic
17	8079525	G	GTAAA	G8079531A	ALOX12B	NM_001139.3(ALOX12B):c.938_941dup:p.Ala316fs	coding	Pathogenic
17	8079831	CG	C	G8079835A	ALOX12B	NM_001139.3(ALOX12B):c.864del:p.Val289fs	coding	Pathogenic
17	8079851	C	TT	C8079851T	ALOX12B	NM_001139.3(ALOX12B):c.845delinsAA:p.Arg282fs	coding	Pathogenic
17	8079904	AAAG	A	A8079908G	ALOX12B	NM_001139.3(ALOX12B):c.786CTT[1]:p.Phe264del	coding	Pathogenic
17	8079923	CAG	C	A8079924T	ALOX12B	NM_001139.3(ALOX12B):c.771_772del:p.His257fs	coding	Pathogenic
17	8080243	ACAGATTTCTTGC	A	A8080247G	ALOX12B	NM_001139.3(ALOX12B):c.734_745del:p.Gly245_Ser248del	coding	Pathogenic
17	8080674	CGA	C	G8080675A	ALOX12B	NM_001139.3(ALOX12B):c.632_633del:p.Phe211fs	coding	Pathogenic
17	8080940	C	CACAT	G8080946C	ALOX12B	NM_001139.3(ALOX12B):c.467_470dup:p.His158fs	coding	Pathogenic
17	8081186	TCCTGTAGGGAGACCAAGGAGAGGACTCAAGGGCTGACCCTTGCCCCTGCCCACTTCAGGAAGCAGGAGTTCAGCTTCTGTGCCCCAGGTCGTCTCTGGGGGGGCCCATGACCAAGGAGTGGGAAGGCTCACCTTGGGAGAGTGAAGGTGCGTCCTGTCCGGAAATATCAGATAAAAGAATCACGGACCCACCCTCTTTCCTCTTGCTCTACTGTCAAGCTAAGCTCTGCTGCTGCAAAAAGTCCCTCCTCTAGACCCACTGAAATATTTTTTATTTCTATAAATTCATGGAGTACAAGAGCAATGTTGTTACATGCATAGTGGCCAAGTTAGGGCTTTAGGTTACCCATCACCCAAATAAAGTATATTGTACCCATTAAGTAATTTCTCATCATCCACCCCCTCCCATCCTCTCACCCTTGAGAGTCTCCATTGTCTATTGTTTTGCTATGTCCATGTGTACACATTTTTTTTTTAATGGAGTCTCGTTCTTGTCACCCAGCCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGTGTCCGGAGTAGGTGGGATTACAGGTGCCTGCCACCATGCCCGGCTACTTTTTGTATTTTTAGTAGACACGTGGTTTCGCCATGTTGTCCAGGGTGGTCTCGAACTCCTGACCTCAGGTCATCTGCACGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCATGTGTACACATTTTTTAACACCCATTTATGGGTGAGAACATTCGGTATTTGACTTTCTGGTCTGGCTTGTTTCACTTAAGATAATGACTTCTAGTTCCATCCATGTTGCTGCAAATGACATGATTTCATTTTTTTCATGACTGAATAGTATTCCACTGTGTATATATACCACATTTTCTTTATCCAGTCATCCATTAGGGCACTTAGGGTGATTCCATATCTTTGCTAGTGTGAATAGCGCCACAATAAATAAGGCATCTTTTTGATATGTTGATTTCTTTTCCTTTGGGTATATACCACTGAAATATTAATAACTGACAGTTGTTTAGCACTTACTAGGTCCCAGGTATTGGGAAAAGGGCTTGTGGGGTGCCTGTATAAACTGGCCATAAAAATATGTGACAGTAAGCTGTGGAAAGTCACAAAAGGCCTCTGAGGAGGAAAGCGTTCTTATCGCCATTATGTTCCCATGCTCTGAGCGTTAACCTGCTGTCTTATCTATAAACACTGTGTTCAAGGAGAAAGACACTCCTTTGAAACCTGGAAGGTGGACAGACGCGCAGGCTCCTAGTTAAGCCTGTTCCCACTAGCTGCTCTCCGATAAGTTAAAGATGTGCTGTTTGAGCACAAAGGAGATTCGTTTAAACCGCTATTGCTATAGATTACGCCTGTGACGCACTGCCTCCCTTTCAGTGTTTCACCCTGAACATCTGCTTCTTAGATCTAAGTGACTGTACTCAATAAATAGTGTGGAGACCAGAACTCTGGGCCTTTTGCAGCCTCCATTTTGCAACTGCCTCCCTGGCCCCCACTCTTTTTGCACTCTTAACCTGTCTCTTCTCATTCCTTCGTCACCACCGGACTTTGGGTACCCTACAGGTGGTGTTGAGGCTGGTCCCCAACACCAGGCACTTTGTAGACACTTTACTTTTATTAATCTAAGCCTAAGAAGCACCCTATGAGGCAGGTGACTATTACTATAGGCTGGTGACCCCTTCGTCACAACTGCAAAGTACAGAAAGCTGTGGAAATCAAGTTTGTCTGTTTGTTCCACAACAAATTCATTGGTTGACAAAGCCTGCTGTGAATCTCCCTGAGGCTATATACAATCTTTATTTAACTCACTGGGTCTAACTATTCATAGTTTTTACTGGGAAGTGTTAGTATATTTGATTGGGGTGCCCTGTGGTAGATATAGCACATAATATATGGGGTATGTGTGTGATATAGATTTATAGATGAAGATATATATGTATACATATACATATTTTATATAAACATACACACATGTGTACAGATACATGTGTATGTAGCTTCTCAATAAAATCCGAATTTCAAAGCACCCCTGGAATCAACAGTTTCAGCTAAAGGACTGTATCCCCATGCCCATTTTACAAGGAGAAACAGTCGCTATTATGTATTACGTGGGGACAAGGCTGGATTTGCCCCGTAGTGGGCTGCTTCTGACCACCAACAGTTGTTAAGCCTTTTAAAATTCTGTTCAGGCCAGGTGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGCGGCCAAGGCAGGTGGATCATGAGGTCAGGAATTCAAGACCAGCCTGACCAACATGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCTGGGTGTGGTGTTGCATGCCTGTAATCCCAGCTACTCTGGAGGCTGAAGCAGGAAAATCACTTGAACCCAGGAAGCAGAGGTTACAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACGAAGCGAGACTCTGTCTCAAAAGAAAAAACAAAAACAAAACAAAAAAAAACAACTCCGTTCAGATGTCATCTTATTGGATTCTCACATCCACCCTATGAAGTAGGTTCTGTTGTTATCTCCATTTTACAGATGAGGGAACCAAGGCTTAGAAGAATTTGGAAATGTGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATCGAAACCATCCTGGCTAACACGGTGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAGACCTAGCTCGTTTTCATCCCCAGGGCGGAAGACTCACTCCTTTGAGGGCCCTATGGGTGACTCAAGTCTCCCTGTCCTGTTGCGTGGCAGCGGCCCCACCCAACCCCATTCCTGCCTGGCCACCAGCATCACCCTGCCTGTCCCCTGCTTCCATGTCACCCAGACCTGTCACTGCAGGAAGATGCTCTGTGTCCCCAGTGAGACCCTCCCCTTGGCATGCTCACCATCTCCCAGGCTTTCCTCGCCTCTCCTTTCCCCAGCTCAGGCCCTGTTCCCCAATCCTGGGGGAAGATTCCAGCACAGGGCAATGAGAAACGGAAGAGAGGTAGTCAGCTGCAGGGAGGATGGGGCTTCGGGCCCTGGGTGTCCTCAGCTCAGCCTTTCCCTCCCATTCGCCTCAAGGGAAGCCAACAGACACTCAGGTGGTGGAACTGGGAGATAAGAGAGGACAGGCCCCCAGTCCTCATGCAGCACCACAAATTAGGAAGCTGACCCCAGCCCACCACACAAGGGGCTCTGGCAGGGGTGGGTGCAAGGAGCTCAGCCACTCCGGTCCTATGTCTCTCCCATGGGAGTAACCAAGCAAGTGGAAAACCCACTGGGCAGCCTTGGCCAGCCTTAACCTTGGAGAAACCCTGACAGTCTATCTGAATAACAGGGCCCCTATTAGATAGATCCTTACTGGATTAAGGGGGGCCTTTTGGAGTAACAGTGCATCCTGTTAGAGAAATATGGTGTCCTGTTGGGAAAATAGGGAGTCCTTTGGAGCAATAGAACATCCCATCAGTCTAAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGAACTCAAAGGGCTTCTAAATGGGATAGCAAGGTGCTGGTTGGAATAATGGGGCATCCTGTTATAGTAACAGAATCCTGCTGGAGTAACAGGGCGTCTTTCTGGAGCGCATATGATTGGCATCATAAATAGGCCTCCTGTGAGAGTCCTGAGCCTGTACTTAGCATCACAAGGGGTATTTTTAACGTGGCCGGGCATCTTATAGGAGTCAGGGAGGACTGGAGAGGTAGCGGGGAGCGCACTCTGGGAATGCTGTCTGCTGCCAGATGGGGATGCTGAGGGTAGCTGCTGGGCCTCAGGCACCTCTCTTCCTCCAATGTGCAGCCCCAAGCTGAGCTCAGGGCAGCAGCACTGACTGAGGGAAATGTGTGACAGTGGCAGGAGAGCCCAGGAGTCCCTGGTGGGGCTGGGCCCCCCTCTGGCTTGATGGGAGCCTGGGTGCCATGCCAGGGTAGCAGGCTGGAGCTAGAGGCCTCACGGCCATAGGATGGAGCAGGGTGATGAGGGCTTACCTGTGGCCTCCCGGAGTGCCAGGGTCTCGTAGCCATCCATCCACTGGTAGGCGGGGAAGTGGTAGATACGGCCGTTGGGGGCACAGATCTGCACATAGTTGCAGTACCAAGGGTCCTTGGGGAAGAAGGCGTACCGCTCTTTGTGCAGGCGGATGATGATGAGCTCACCCAGGTCCTGAGGGCACTGCACGGTGTACTGGCCCACCTAGGCAGGATGCAAGCCTGGCTGAGTGGGCAGGACTTCACCCCGGCTCCCAGGCCGCCCACCCCTCTGGCCCCTCACCTAGGCCCTGCTCATGCTGCGCAATGCTCACCTCCCTGGACTGACGGAGGGACAGGATATTGACCTGATCATTGAGCTTCCTTCTGACTTCTCCAGCTTGGGGGTCTCCTACTGGATTCCTCTACCCAGGGCTATGTAGGACTCCAGCCCCTCCTTCTCTCCATCCCCAGCTCCTGTCTTCTCCCACTCCCCTCTCCAGGCACCTGAGGTTGCAGGAACCCTTCAGACCCCTGGGGACTTGGGTACCACTCTACAGTTTTCGAGTGGGGAGAGGCCCAGCCAGCCCCTTCTCCCATTCATCAATGAAGATGCAGATATTCAGAATGGCCACATAGATAGAGTGACCTATTAAGGTCGCCTAGCAGCAGGTGGCTGGGTCTGACTGAAAATCAGGTCTGAGGACCCGCAAAGCGTGCCTTCCACTGGACAGGCTGGTCTGATGCCATTTTAAGTCACAGAGAATCCAGTGCAAATGTGAGACAGTTAGGAGGCAGCTGAATTAGGAAGAGTGACTGAGAATGGAAGAGAGAGGGATGCGGGAGAGGGGGTAAGACAGAAAGGGGAGGAGAGCAAAGGGGAAGGAAAGCAGGTGGAAAGGATTGAGAAAAGAGAGATGCAGGATAGGCAGAGACAGGGAGAGAGGGCTGAGGAAGAGGGAGAGAGAAGAAAAGGATGGGGAGGGAGATGAGGAATGCCTGAAAGGGTTAGAGATGAAGGAGCAGGATGGAGAAGGATGGCCCAGAGATCTGGGACATGGGCGAGGGGCTGGAAGCCAGCTCTGGACAAGGCGTGTAGAGCCACTGGGGAGCCCACTGCCTTCGGAGCTGTGCCTCAGCTCTCCAGCCTCTCCTCGCCAAGCTCAGCTCACCTGGCTCCCCCTGCGCACCTTCACCCCTCCCGGGGCCACAAAGACACACAGACACACACAGACACACACAGACACACACACACACACACACAGACACACACACACACACACACACACACACACTCTTA	T	T8081189G	ALOX12B	NM_001139.3(ALOX12B):c.149_353del:p.Val50fs	coding	Pathogenic
17	8086147	TACCGCTCTTTGTGCAGGCGGATGATG	T	C8086149T	ALOX12B	NM_001139.3(ALOX12B):c.195_220del:p.Ile66fs	coding	Pathogenic
17	8086156	T	TTGTG	C8086161T	ALOX12B	NM_001139.3(ALOX12B):c.208_211dup:p.Lys71fs	coding	Pathogenic
17	8086286	T	TC	T8086288C	ALOX12B	NM_001139.3(ALOX12B):c.148-67dup	noncoding	Benign
17	8087227	GACACACACAGAC	G	G8087237C	ALOX12B	NM_001139.3(ALOX12B):c.147+57_147+68del	noncoding	Benign
17	8087235	CAG	C	G8087237C	ALOX12B	NM_001139.3(ALOX12B):c.147+59_147+60del	noncoding	Benign
17	8087249	C	CACACACAG	C8087257G	ALOX12B	NM_001139.3(ALOX12B):c.147+46_147+47insTGTGTGTC	noncoding	Benign
17	8087251	CACACACAG	C	G8087259C	ALOX12B	NM_001139.3(ALOX12B):c.147+37_147+44del	noncoding	Benign
17	8087253	CACACAG	C	G8087259C	ALOX12B	NM_001139.3(ALOX12B):c.147+37_147+42del	noncoding	Benign
17	8087259	GAC	G	A8087288T	ALOX12B	NM_001139.3(ALOX12B):c.147+7GT[14]	noncoding	Benign
17	8087311	GTC	G	T8087316C	ALOX12B	NM_001139.3(ALOX12B):c.130_131del:p.Asp44fs	coding	Pathogenic
17	8103334	GTTCTTGGC	G	T8103336A	ALOXE3	NM_021628.3(ALOXE3):c.1937_1944del:p.Ser646fs	coding	Pathogenic
17	8103471	GGCATCCAGGCCCCAAAGTCATGCTGTGGAGACCCCCATCCCAGTTGGGTCAGTTGGCCAGAAGGGGAGTATCACCTCCCTCTTCA	G	G8103472C	ALOXE3	NM_021628.3(ALOXE3):c.1786-63_1807del	coding	Pathogenic
17	8103474	A	ATC	C8103477T	ALOXE3	NM_021628.3(ALOXE3):c.1803_1804dup:p.Met602fs	coding	Pathogenic
17	8109303	CT	C	T8109304C	ALOXE3	NM_021628.3(ALOXE3):c.1432del:p.Ser478fs	coding	Pathogenic
17	8110090	AC	TA	A8110090T	ALOXE3	NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA	noncoding	Pathogenic
17	8110104	G	GT	G8110106T	ALOXE3	NM_021628.3(ALOXE3):c.1292dup:p.His431fs	coding	Pathogenic
17	8110369	GC	G	C8110370G	ALOXE3	NM_021628.3(ALOXE3):c.1101+15del	noncoding	Benign
17	8110446	GCCACGTACT	G	C8110447G	ALOXE3	NM_021628.3(ALOXE3):c.1031_1039del:p.Gln344_Ala347delinsPro	coding	Pathogenic
17	8111363	A	AG	C8111365G	ALOXE3	NM_021628.3(ALOXE3):c.952dup:p.Leu318fs	coding	Pathogenic
17	8111816	T	TG	A8111818G	ALOXE3	NM_021628.3(ALOXE3):c.784+276dup	noncoding	Benign
17	8112118	GA	G	A8112120G	ALOXE3	NM_021628.3(ALOXE3):c.758del:p.Phe253fs	coding	Pathogenic
17	8114280	AG	A	G8114285A	ALOXE3	NM_021628.3(ALOXE3):c.680+203del	noncoding	Benign
17	8117791	CCTGCGGCCCCTGCCCCTCTGAGGTCGCGCTTCCCTGTCTCCTTTGTACTCACCGATCCAGGGGCGAAGTCCCTGCCCATTCGATCTAGCCGCTGCTTGGGGCTTTCACCACACGTGCCCACCAGTGTGACAGAGATGTTGTCCAGTGTGCCGGCCCTCAGGTAGGGACCAGTGGTCACACACAGGCGGTACACTGCCATGATGGGAAGGAGGAAGGGATGCCCCGGCAACGCTGGCCGCAGCAGCAGCCGGCCTGGAGGAGAAGAGCGGCACGCCGGACAGGGCTGGGTTTCTGGGCGGAGGGCTAGGGGCTGCGGGGCTGGGTAGGGCTGAGGATGGGCCCAGCTCTCTCTGGGATGTTCCTGGGCTTTCTCTCTCCGAAGCTCCCTGCTGGCGGCTCGGGCTTCCTCTCTCCGCCCACAGTCTTGCACTCTAATACTTGTTTGCTTGCCTCTGACACAGCCGGTCCCTCTGGCTGGCTCACCCAGATGGATATCAGGAGCCTGGGTTCCACTGCGGAGGGAGGGATCAGATGCTGAGATGGAGAAAAGGAGGTAACGCCTGTATAATTGGGACACTGCCCTCCGCCTGGTCAGCGGCCCGGACTGATGCCCTGGAGTGCTTGTCCGCCCACTCCCCAATGTCCCCCAAGATCTGTTCCTCCCCATTCCCAGGCAGAGATGAGCACAGGGCACCTGCATTCCTACGTGTGAATCATCCGTGTGAATCACTAAACAGTGGAGAGTTGCACTTGGTCATAAATCACACGTGACTGCAGCCACACGCAGGTGAGTCGCACACGCATTCCAGCACATGTCAAATGGTCAGGAACAGCTCCCTGTCACCCCATACACCGATCCCCCCACGCATGGCCCTCTTTGTCCCCAGCCTTTGGCACGCCCGACCTCATTCTCTGCTCTGGAGTAGGGCAGGTCAGGAAAGCGAAATACAGCGCCGGCAAACAGGGTCTGAATGCCCCGCGTGGCATTCTTTCCGCTCCAGGACCGCCCTGGGCCTGCAGGATCCTGGGCGGGAGCCCAGGTGTCCGGGATCTGGGCCACTAGGGACTGGGGAGGAACCTCTCAGAGAAGCCCATAGCCCGCAGCGGCCCCGCGCGGCCGGTTCCGGCGCCGCACTGTTCCAGCCTCTACTATGGTACAGTCCCTGCGTCGCAGCCTCGGCGGGGGCTCTAAGAACGGGAGGCAGAAAAAGCTCAATCAGCAGCAGGCGAGCTTCACCCGCTGCTTCCAAATCTGTGCCAAAATATTCTATGCTGCACAGATAAAATCCTCTGTCGGTTCTACAAGCCTGGCTTTTCCTATAGAGAACCCTCTTATAAGCAAAAAGTAAAGCTCTCGTGAAGAGCCCGGATAGCTCAGTCGGTAGAGCATCAGACTTTTAATCTGAGGGTCCAGGGTTCAAGTCCCTGTTCGGGCGGCATGTCTTTGCTTTTGGGTACCGCACTTCGCATAAAATGGTAACAAAAATAGTTACTAGTTTTTAAAGCTAGGTGATACAGAAACTTGATTTCCACAAAATACAGCAAACGACGGTGGAGGGTAATAAACATACTTTAAAACAGTACAAACGCGAGCCGTATTATCGAATTTACATTTTCTGGTAGCCACATTACAAAGAATAAAAAGCAAGCGAAATTAATTTCACGGATCTATTTTACTTACCCTAATATACCAAAATCTTATTTTAACATATAATCAACATTCTAAAAATATTAATGAAATTTTAAGTCTTTTTGTTTGTACAAAGCCTTCCTTCAAAAGAAGATGTGTATTTAGAAGCTGGCAATACATCTGAATTCATATATTTCAAGTGCTCGATAACGGTGTCTACCATATCCAACAGCAGACTTTGTTTTGTTTTCGTTTTAAGTGACGGGTGTGGAAGACACGCAAAATAGAATGTCCAGTAATGTACACAATCTTGAAAGACACCACGAGGGAGGTTCCATGGTGTAATGGTTAGCACTCTGGACTCTGAATCCAGCGATCCGAGTTCAAATCTCGGTGGAACCTTGAAGCTTTTCTTTTAATATCAGCATGTTGAATATTGTTAATTGATTTTCACAGAGGGGATACTCCTATGACCCAAGATAATACGACAAAAAAAAAAAGTAAACTAGGACACTACCAATTATTTGTGCTTTTCCTACCGGATAATTGAGTCCTATAACACAGTGTTAAGAGAACGTACAATAAATTATTTAAATATGTTGGAAGTTGAGCTAACATTTGAAAACATGTTAAAATAGAGATGTTATGAAGAAACGAAATAATAGAGATGTTATGAAGAAACGAAATATTGCTTCAGCAGTTACCATCAGGTCTTAGCTTCTGGGATGGATGCAGGCCTATGATCTCTCTGGAAGACCAAACACGGAAGATGATGGTGAAACCATTACCAGGGGAATTCGTAAAATTACTTTCTGCATGTAAATAGGTGTAACCTCACAGAACTGTTAACAGAACTGTAGCAGGTGCGTAATCCACCAGAAAAACTCCAGCCTGGCAGCGGTGGGATTCGAACCCACGCCTCCGAAGAGACTGGAGCCTAAATCCAGCGCCTTAGACCGCTCGGCCACGCTACCTGCACGAAAACTTACTGTCCCCGTTGTCCTCCTAAGAGACTAGAAGTAAGGAATGGGGCAAATCTTAAGAGTGCCAAATTGATTCGTCTCCTTTTCCACATCTTTTAGACTGGAAATGAAGAACCATCGAGACTGTGGACCGCATAGCAGCAGATGGCAGAACAGATAAACGAGAAGAGACAAAAACACACAGAAATTTACAACAAAACTAGTTTATTTGGGTGGGACTATATCTGGGAGTGGGGAGCGCCTGAGCCGGAAACACCCCCCAAGCGGGCAGCCGGAGCTCTGCACTCGCTCGCTCAGCCATTTTCGGTTGCTCTCCCTCCCTGTTTTTTCGACCCATGTGCGCCCTCTCTCTCACCTGGCTAACATGCTTTGCGCCCGCTACCTCTACCTGGCTTGGCCTCTGAGATCCAAACCGCGCCCTCCTGGCATGTCCCGCCCAAGTCCCTTAGCCCCGCTCCCCAACCCTGCCCCATTCCCACTCTAGTACCCGTAAGCTACAAGACGCCGCCGTTCGTCGGGTGGCTCTGTGGCGCAATGGATAGCGCATTGGACTTCTAGTGACGAATAGAGCAATTCAAAGGTTGTGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTATCCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTCTCTTTCCACCTGGTTTCAATTTCGATCTCAGTTCCCGCTCTGCTCTCTTCTTTACTTACCTGTCTGCCCCGGGGCTTGGGCCATGGAGAGCAGGACTGAGGGTGGGAGACAGAAGGGAAGGGAAAGTGGGCGTGGACGTCGAGATAAAGGCAGGCCCCTGGCTCGGGGACACACGGGGATTTAATAACCACTTTATTCCATGCACTAGGGACTCGGGAAGGGACTGGGACTGGGCTGAGGGGCAGAGAGAGTACAATCCTAGACGCAAGGGAGAAGTTGGGGCAGGGAAAAGGGACAGGAACCAGGGAAATATATATTTATATAGATACTCTAATATAGACCACATCTCACCCGCGCGCTGAGCCCGCGCGCCCCACTGCCCTCCCCAACACCTGCTCGCCCGGACGCCCGGGTCCCTCTGCTGCCCTCGGGCTGGAGTCTCTACCCCACCCCTAGACCCCGCCCCCACCACCCCCCAAGGCTCAGGGCCAAGGTCTCCAGAAAGCGGGCGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGTGGCGGCGGCAGCAGTCCGGTGAGGGGCGCCGGCGCGCCAGAATCCCCGGCGCGCGGGGAGCAGAGGGATGGGGACCATGCGCAGCGCGGGCTAGGGTGGCCCTGGTGCACTGGGGGGCGCTGGTGCAGCGCAGGGCCAAGGGCCGGTGCGGCGGGGTCCAGGGATGGGCGCGGCGCTGGAGGCCTCGGATCTACCGGCTTGGGCCGGGGCGGTTTGGGGCGCAGATAGCCGTGCAGCGCGGAGAAGAGCTGGGCGCGGGCGGCCGGGCTGGCGTCGTGCGCGAAGGCCGCCAAGCGAAGCAGGCACTCGCGGAAACCGGACAAGTAGCAGCTGGCGAGCGCCTCGGCGTCCTGGACTGGGGACCGGGGAACCCCTGGAGCCGCGGCGGCTGGTGCGGCCGGCGGGAGCACAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGGGCGGGGCGCAGAGATACCAAGGCCGGACAGGCGCACAGAGACAGGAAGCCAGATGGACGGAAAGAGGGAGAAAATGAGGGAGACACAGAGACAGACACGCGCGGGTGTTATTAACCTCGCCTCGGAGCAGAACCGGCCACTCCCCAAGCCCACCATCCACCGCAGGGCCCGCCCACTCTGCCCCGGCCGGAGCCTCCTGGCGTCCCCCCTCCCTCCCTCCGCTGCCCCACCCCCGCGCTGTACCCGGGGGCTCCACCCGGCTTCGCTCCCTCAAGTAGCCCACGGCGAACTCCAATATCTCCGCTTTCTCCAGCTTCGGGTTCCGGAGGTTCTACAGACGGGAGGGGAGGGCGCAGAGACAGAAAGGGGTGGGGAGAAAGGGGGAAAGTGGCAGGGGGAAGAAGGGAGGGACGGATGCGGGAGCTGGTGGTGCCCCCGATCGCATTTGCGCACTGCCCACAGAACGCGCGACCAAATGCGGAGTGGAGATGACCAAGGAAAGTCCTGGCCCACCCTGAGACGAAACTGTCCAATCCTAGGGGTTGGAACCAATGCCCAACGCGTGAGGAGGAGATTTGAAACCGCAACCCAGGGAATGAAATTAACCACCCGACATAACAGAGGCTGGCTCATCAGAGGCTGGCTGTGGGGGAGGGGGAACCGGACACTTAGAGACCCAAAGGGTGAAACTGACCGACCCCGGGAGCGAAATTTACAGAACCAGGCGTGAAACTTACAGACCCGAGGGGTGGCGAAGAAGATCGCGTTCTGAGAGCGAGTGGGGGTCTGGGATGGAATTCCAAAGGCGGGACTCGGGTGAGGATGCCTTGGGGCCAGGGTTGCCAACCAAGCTTGTGTCCCCACCCCAGTGGGAAGCCCTGGGACGCGGAAACGGGAAGCTTGGGGACCTAGGGCTAGCGGAGGGACTGACCTGGTCCCGGGTCCGCTCCAGCAGCAGCAGCCTCAGCTCTTCCAGGCTGCGGTTGATGCGGTCCCGGCGCCGCTTCTCCACAAGCGGCTTGAGCATCTGCGACCAGCGAGAAAAGGAGAGCGGGCCGACCAGACCGAGACTCAGTGCGGCCGCCCCGGCGTCGGATCCCGCCGCTGGGAGAGCCCGGCTTCCACCCCGGCCACAAGACCCCAGATTGCCTAGGGCCGGCCCCATTCGATCCCTCTCCGCTCCCCCTCCCAATGCCCCTAGATCAGTTTCTGTAGCTCGCCTCCCCGGATCTTCGCATTCTCCTCTCTCAGTCTCGTCCTCCCTCCTCCCCTCTCTGTGTCTCTCCTCCTCTTTTCTCTCTACGTCTCCGTCTGGTGCAGTTTCTCTTTGTCTCAGTGGAGAACTTTGGGGACTCTCTGCGCGCACGCACGTGCGCCGCACGGTGCCGGGCTCAGACCTGGCGGCCCTGAGTATAGAAAGGGAGATACCTAGCGCGACCGCGCCGCCTCTTTTCCCTCAAAACCCTCCAGGCCTTCACCTTCTCCACGGTTCTCCTAAAATCTTCCACCAGTCTGGGGCCTCTGGAACCAACGCCCCGGGACCTTCTGTACAAGACCGCCTTGGGCCAGCCCCGCCCGGCTCACAGCCAGAGTGGAGCAAGTGCCTATCCTCTTCTCTTTTCGTTCCCACCCTCCTCCCTTGGCTCTGCCCTCTAATTGCTTATTTTACTCCAACACCGGCCCCCTCCCCAGGCCACAAGGTGCCGACACCCATTACCGAGGCCCCTAGTCCTATGTTCCCGCCGCCCACTCAGGTCTGGCTCTGACCCCTGTCCCCTTCTTCATATTTTGCAGCTTCCTCTCCAGCTTCTGGCTCCTGGAGTTCTGGAGCACCGCTCCCCTTCCACCCCTGCGTCCCCAGCCTCTCTCCAGACCGACGGCGTCAGGGGCCCAGTCCCCTAGCCAAACCAGGGACCTCTGCTCCCTCCCCTCCCGCCTCTCACCTTGGGGCCGTCCCTATTCTCAGCTCGATCCCGGGTGACCATTGCTCCTCCGGACCCTGTGTGGACCGGTTCCCTGCTCGCCTGGAGCCTTATATTCCGCGGCCCAAGGGTAGGAGGGATAGGACCCGACCCCGCCCCCTTCGACATCCAGATTCTGCCCCTCTAGGACCCGGCACGAGGCTCCCGGAAAGAGGAGGAGTGAAGGGGGGAGGGGAAGGAGAGAAACTGGCCTGGGAGTGCGGGAAGTGAGGGGTGAATGGGGGCACTGGCTGGTTTACAGACCGTAAGGCTGTATAAGGAGGCGGGACCCAGCTGAAAGGAGGAGGCTATTGGGGCAGAGCTCGCTTGGGGATGAAATTCAGAGTTCCTCCAGAATTGCAGCTTTCTGGGAGGCTTACTGTACCCTCACTAACCCTGAAATAGAAGTTAGCACCTCTCAGCCCCCAGGCTGAATTTTATACATCATCTCCGAAGTTCGCTTCCTAGTCGAGACAGGGAGCAACCCGAGTGCGCTGGGTGAATCTGTCCGACTCAACCGAAGCTCTGCCGGGAGGTTGGAGAGGCGCTCTCTTCTATCTAAGCCAGTTACATTCAAGTCCGCGAACATCTGCGCGCCCACTCTGCGGACAGGGCACTTGTCTAGGCTCGGGCGAGTCATAGTGAGATACGCAGGAGAGACCCAGCTTATCCCTGCAGGATCTAATGGAAAAGACCATGTGACACCAAGTAGCTATTACAGAAGCCCAGTGAAGTAGGTGCTCCGGGAAAAGGTCTCCTTAAGGATGGCTGGACTGAGGAGGATCTTCAAGGCAGAGGGAGCAAGTCTTTGAAACATAGGTATGAGTGGAGAGGTCTTTCCACTTACAGTACAAGTATTTGATTCAAAACTAGTCATAGGAGATTCAGGAGTGTGGCTGATAGGACACCTCACGCAAGTGTGCCCGCATTGCTTGCTTCTGGAGGCCCCTGGTGACTGTAGGGTAGCAGGGAGCAGGCAGTTTACTAAGGGGAAAGCAAGGGGTACAAAAAAGGGATCAACACCCACCTCAAACCAAGAGCATGACCCTCCGCAGAACGATGCCTGACCACTCGAGGGCTTCAGGACAAAGTGTCTGAGAAGATAAATCAGAAACTGAAGGGAACAGCCAGGTTGCCAGGGATAAAGACACGGAAAGACAGGGTTGCAGACCGAGACGGAAGACAGCTGTGAAATCAGAGACCAATGGGGTTTCCTTCAAGCCCTCCCAACGGCCCTCCGCACCTTGGTTTTGTCACGAAGCCTTTCTTGCCATCATAGCCCGAGCCGGGAGAGGCACAGACCTTGAGGAGGGGGCTCCCATTTGGGATCAGGGCCCCCAGCACATCCCACCTCTCCGTCCTTCAGCCAAATGGGAACGCAAATGTGTGTCCCCATCAGCCCCCGCCGCCCCCCTCCTTGGGAACCTGGGCTCGGGCTGAATTTTTCTCACCTGCACGCGAGGCTGGGGGCCCCCGGCTGTTCGCACCCGGGTGTGGGGCCGCCCCTGGCCATATGGGGCGGCTTTATGGCCCGGTGGCCGGATCCGGACGAGAGGAAGGATGACTTGGCGCTCCACCCACGGCAACCATTCGGGACCACTTCCCTGGCCTACACCGTTGCCTGTCCGGGTCCGCCTCAACCTCTTACAATCTCAGATAGGATCCCCGCAGAATCTTTAAGCCGCGCATTGGTGGTTCAGTGGTAGAATTCTCGCCTGCCACGCGGGAGGCCCGGGTTCGATTCCCGGCCAATGCACGAGTACAGTTTTCTTTTCTCCCCTCCAAAAAAAGGATAATATATTTGGTAGCATTTCTAAGAAACATCTTCACTTAAATATTTCTACCAAATATTAATCTTAACCTTTTGACTATAGCAGAGTTTGCAGCCCCAGGCCTAAACGATTCCGCACGCCCTCGCACTCCCCTCCTCCCAGCATGGGGGTCCTGCAGCCTCCACACCCCCCTCCCTCCGTCCCCGGCCCGCACCTCCGCAGGCGTGACCCTGAGAAAGGACACAGTGCTCGGATCTCGGCCCCCCGCGGGGGAAGGGCCAGGTCTCCCCGCCCCCCACTCTACATCCCTTGTTCTTTCCACCTCTCTTCCTCTGTTATTTTCCGTTCTCTCTGAAGCACGCTTTCTTTTCTTAAGTCTATGGGTCTATGCCTTTTTTGTCTCGCCTCCTTTCCGGGTCTCTGAGTGTCTCTTAGCTCCTCCATCTCTGTATCTCTCACGTTTTTTCCAGATCTTCAGCGACTTCTGCCCTGGGTCTCTCTGGTGTTGGTGGTCTCCTCCCTCCGCATCTCTGATTCCGCGTCTCTCCGCGTCTTGGCGTCTGCATCTCCGCCTCTGGCTCTCTCGGGTCTCTGGTATCTCGTCGTCTCTCCGAGTCTCTGTCGCCTCCCGGGACTCTGCGCTCCCACGCTCCTGCCATCCCCTGGGAAGCTCGCTGACACTTCCAGGTTCCTGCCACCTCCCCTCCCCGCCCCTTCCCGGCCGCTTTGATCCCGCACGCGTCGGCCCGAGGGCGGGCGGGTGGGCGCACAGCCACCTGCGGCGACCACTTGTGAGCGGGGCGGGGCGGGCCGGCTGGGCGGGGCGGCGGGGCTCCCCGCGGTCCGCTCCCTTCCGGCGCGCTCCGCCTCCCACCGCTCGCCTCCTCCTGGCTCTGTCCGCGGTCGCTGCCGGGGCCTGTGGGCTCGGGGCTCAGGTTCGCTGAGTGAATCTGGGTCTCGGCCTTAGTCTATCTGGGTCTCTGTCTCTGGAATTCACCCTGGAGCTGTCCCTCCCGTTTCTTTCAACCTGTTTTATTTGCGCCAGGGTCTGGGTCTCTGTCTCGTCCTCGGATTGTATCTGTGACTGCCAATGCTCTGTTCTTAGCGCTAAGTA	C	C8117792G	ALOXE3;HES7;TRG-GCC2-6;TRK-TTT3-5;TRL-TAG1-1;TRQ-CTG1-5;TRR-TCT2-1	Single_allele	noncoding	Pathogenic
17	8117927	TGTTGTCC	T	G8117928A	ALOXE3	NM_021628.3(ALOXE3):c.57_63del:p.Asp20fs	coding	Pathogenic
17	8117949	CAGGT	C	T8117953G	ALOXE3	NM_021628.3(ALOXE3):c.38_41del:p.Pro12_Tyr13insTer	coding	Pathogenic
17	8173297	GAACA	G	C8173304T	TMEM107	NM_183065.4(TMEM107):c.*898TGTT[1]	noncoding	Benign
17	8229920	G	GACCT	G8229925A	CTC1	NM_025099.6(CTC1):c.2978_2981dup:p.Leu995fs	coding	Pathogenic
17	8230346	G	GT	C8230348T	CTC1	NM_025099.6(CTC1):c.2880dup:p.Leu961fs	coding	Pathogenic
17	8230376	CTATA	C	T8230381C	CTC1	NM_025099.6(CTC1):c.2847_2850del:p.Val948_Tyr949insTer	coding	Pathogenic
17	8231941	GC	G	C8231946A	CTC1	NM_025099.6(CTC1):c.2346del:p.Leu783fs	coding	Pathogenic
17	8231995	CAT	C	T8231997G	CTC1	NM_025099.6(CTC1):c.2291_2292del:p.Tyr764fs	coding	Pathogenic
17	8232175	G	GT	C8232177T	CTC1	NM_025099.6(CTC1):c.2112dup:p.Pro705fs	coding	Pathogenic
17	8234589	T	TA	C8234591A	CTC1	NM_025099.6(CTC1):c.1683dup:p.Lys562Ter	coding	Pathogenic
17	8234601	CTTCT	C	T8234605A	CTC1	NM_025099.6(CTC1):c.1668_1671del:p.Glu557fs	coding	Pathogenic
17	8235131	TC	T	C8235132G	CTC1	NM_025099.6(CTC1):c.1360del:p.Glu454fs	coding	Pathogenic
17	8236092	CT	C	T8236095C	CTC1	NM_025099.6(CTC1):c.1042del:p.Ser348fs	coding	Pathogenic
17	8238018	AG	A	G8238023A	CTC1	NM_025099.6(CTC1):c.647+12del	noncoding	Benign
17	8238086	CG	C	G8238090C	CTC1	NM_025099.6(CTC1):c.591del:p.Val198fs	coding	Pathogenic
17	8238510	AGGGGGTTCCCATTT	A	G8238513T	CTC1	NM_025099.6(CTC1):c.303_316del:p.Asn102fs	coding	Pathogenic
17	8242834	T	TAAC	G8242836A	CTC1	NM_025099.6(CTC1):c.197+150_197+151insTGT	noncoding	Benign
17	8248097	T	TG	C8248105G	CTC1	NM_025099.5(CTC1):c.-62dupC	noncoding	Benign/Likely_benign
17	8381931	CA	C	A8381949G	RPL26	NM_000987.5(RPL26):c.168+211del	noncoding	Benign
17	8484120	G	GATGA	A8484123G	MYH10	NM_001256012.3(MYH10):c.5175+17_5175+18insATTC	noncoding	Benign
17	8799590	CGT	C	T8799592G	MFSD6L	Single_allele	noncoding	Benign
17	9598215	GT	G	T9598227A	CFAP52	NM_145054.5(CFAP52):c.537-7del	noncoding	Benign
17	9918297	G	GA	T9918301A	GAS7	NM_201433.2(GAS7):c.1219-201dup	noncoding	Benign
17	9925187	C	CA	G9925195A	GAS7	NM_201433.2(GAS7):c.1138+282dup	noncoding	Benign
17	9925431	CCTT	C	T9925434G	GAS7	NM_201433.2(GAS7):c.1138+42_1138+44del	noncoding	Benign
17	9927045	CT	C	T9927052C	GAS7	NM_201433.2(GAS7):c.886-277del	noncoding	Benign
17	9942881	TAATATGAAATCTAC	T	A9942882C	GAS7	NM_201433.2(GAS7):c.731+226_731+239del	noncoding	Benign
17	10392304	CA	C	A10392305G	MYH8	NM_002472.3(MYH8):c.5568+237del	noncoding	Benign
17	10393991	C	CT	G10394021T	MYH8	NM_002472.3(MYH8):c.5166+229dup	noncoding	Benign
17	10393991	CT	C	T10394020G	MYH8	NM_002472.3(MYH8):c.5166+257del	noncoding	Benign
17	10394063	C	CA	C10394071A	MYH8	NM_002472.3(MYH8):c.5166+179dup	noncoding	Benign
17	10399249	C	CTGTG	C10399269G	MYH8	NM_002472.3(MYH8):c.3862+276CA[11]	noncoding	Benign
17	10399249	C	CTGTGTG	C10399269G	MYH8	NM_002472.3(MYH8):c.3862+276CA[12]	noncoding	Benign
17	10404726	TAC	T	C10404750T	MYH8	NM_002472.3(MYH8):c.2433-165GT[11]	noncoding	Benign
17	10404751	A	ACACG	T10404752C	MYH8	NM_002472.3(MYH8):c.2433-167_2433-166insCGTG	noncoding	Benign
17	10404751	A	ACG	T10404752C	MYH8	NM_002472.3(MYH8):c.2433-167_2433-166insCG	noncoding	Benign
17	10521580	C	CATAT	C10521602T	MYH2	NM_017534.6(MYH2):c.5674-168AT[12]	noncoding	Benign
17	10521580	C	CAT	C10521602T	MYH2	NM_017534.6(MYH2):c.5674-168AT[11]	noncoding	Benign
17	10524885	TC	T	C10524887T	MYH2	NM_017534.6(MYH2):c.4842del:p.Asn1615fs	coding	Pathogenic
17	10525476	CA	C	A10525477G	MYH2	NM_017534.6(MYH2):c.4511del:p.Leu1504fs	coding	Pathogenic
17	10528560	A	AT	G10528567T	MYH2	NM_017534.6(MYH2):c.3744+124dup	noncoding	Benign
17	10529200	GTGCCTGTTCATCTTCAATCTTGCTT	G	C10529204A	MYH2	NM_017534.6(MYH2):c.3291_3315del:p.Gln1097fs	coding	Pathogenic
17	10529393	TG	T	G10529396C	MYH2	NM_017534.6(MYH2):c.3205del:p.Gln1069fs	coding	Pathogenic
17	10532008	G	GA	T10532015A	MYH2	NM_017534.6(MYH2):c.2442-126dup	noncoding	Benign
17	10533360	TG	T	G10533363C	MYH2	NM_017534.6(MYH2):c.2365del:p.Gln789fs	coding	Pathogenic
17	10535357	C	CAAATTCTCCTGTAAGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A10535372G	MYH2	NC_000017.10:g.10438674_10438675insAAATTCTCCTGTAAGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	coding	Pathogenic
17	10536578	AC	A	C10536580T	MYH2	NM_017534.6(MYH2):c.1925del:p.Gly642fs	coding	Pathogenic
17	10536583	TC	T	C10536584T	MYH2	NM_017534.6(MYH2):c.1920del:p.Gly642fs	coding	Pathogenic
17	10540359	CAA	C	A10540371T	MYH2	NM_017534.6(MYH2):c.1008+233_1008+234del	noncoding	Benign
17	10540359	CA	C	A10540372T	MYH2	NM_017534.6(MYH2):c.1008+234del	noncoding	Benign
17	10540359	C	CAAA	T10540373A	MYH2	NM_017534.6(MYH2):c.1008+222_1008+224dup	noncoding	Benign
17	10540359	C	CAA	T10540373A	MYH2	NM_017534.6(MYH2):c.1008+222_1008+223dup	noncoding	Benign
17	10543952	C	CA	T10543955A	MYH2	NM_017534.6(MYH2):c.597dup:p.Ala200fs	coding	Pathogenic
17	10629564	TG	T	G10629573C	MYH3	NM_002470.4(MYH3):c.5796+32del	noncoding	Benign/Likely_benign
17	10635671	AT	A	T10635677C	MYH3	NM_002470.4(MYH3):c.3975+63del	noncoding	Benign
17	10638955	AAATCTTTCCTGTGAAGAGAAATGTAGAATGCATGAAGACAAAATACACAGTAACTTGCAAAATGGAAGCCAGTGGTTGAAGGGCATACTTCTTGAGCCTTTCGTCCAGCTGTTGCTTGTCATTCTCCAGATCTAATATGGACTCTTGAGCAAGCTTCAAGTCTCCTTCCAATTTCCTTTTGTTCCTTTCCAGGTCTACTCGGAGCTTCTTTTCTTGTTCTAGGGAGCTTTCCAGCTGAAAAAGGCACCATTTCCTTTTGGGAACAAATGCTTTGCAAGAGGACCCTTGAGGGCTCTTCCAACCCTGGAGTTCTGGGACTCCCGATGAGCATTATTTACTTACGTCTTCCACTTGCTGTTCCAGTTTGCTCTTGGTTTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCCTCCAGTTTCCTCTTCTTGGCCGTCAGCTCAGCATTGATCTCCTCCTCATCTTCAGCTCTCTCTGTCACCTCCTTGATCTTGGCCTCGAGCTGGAATTTGGCTTTGATCAGCTGATCGCATCTTTCCTCAGCATCCAACAAATTTTCGCTTTCCTTAAAAAAAAAAGAATAATAACTTCGTTGAATGATATAAGGTTTGCGACATTCCAGTATTTCACTATATATGAAGTTCTTTATGAAGCATTTCAACTAAAAAGCAAAAATCCCCACCAATAACTCAATTTTTCTAAATAAATAATCAAATCTAGAAGAGTTAAAAAAAAAAAAAAGATTGCTAAACACGTACAGCTTGTACTTGGAGCTGCAGGTCATTCTTCTCTTGGACCAGAGTCACCAGTTTTTCCTCTAGCTCCTTCCTTTTTGCCTCCGACTTGGCGAGTTCATCTTTGGTTTTCTGGAATTCTTCCTTCATGGTGGCCATCTCTTTCTCAGTCTCTGCACTCTTGAGGAGGGGCTTGATCTTGAAGAAGAGTTTCATCCAGGGCCAGTGCTTGACGTTCATGAATGAGCGAATGTTGTACTGGATGCAGAAGATGGACTCCCTAAAAACAAGACATTGCTTATTTCTGAGAGAGACTCCCCTTCCCCAAAGAGCTCATGTCTGAACAAAGACCCTGCTGGACCTCCTCTGCACCATCTTCTGGAATTCCACACGCATGAGGAACCCTCTGCACACAGCTTGTGTCCGGGTGATTAGTTTGGCCAGGCGGTCATCCCGCATCTCTTCCAGGGTTCCCAGCAAGCCAGCCTTGAAGAACACCTTATGGGGCAGAAGGGTGACATGAGTCAGTTTCCTAGAGAAGCTGTGTCAAGAGGACGAAAAGGCCAGCATCTGTCAGAACTGATGCATTACCTTGGTATGTCCAAATTTGTACTGAGTGTGGTCAATATCAATGGATGCCAGAAGCTTTTCACAGGCTTTCTTGCTGTCAATGAATTGTCCCTCAGGGATTGCACTGGCATTCAGCACTCGGTATCTGCATTGTAGACATGGAAATCATCACAGACTGTTGGCAAAGACACAAACCTTGGAGAACATGTAGTTCAGGCCTCTCTTCCTATAGGCAGAAGGCCAAGGTCCCAGGAGATGAGGGAACTAGCTCGGAGTCACATTGCTAGAGAGCAGTCTAGAATCTAGATCTCTTGACTCTTCAGTCAGAGCTTTTCCTGCCATTTTGTATATCAGATAAATTCCAGAGAAAAACATGGAAGAAACAAATATATATAACTTGGCCAAATGGTAGATTGTTCAGTTTACATGGAGGTCCATATCTGTTCTTTCGAAATAGGTCTTTTCATACGAATCTTTCTCCCTCTCAAATTCCAGTGTTCGTACATCTCATCCCCAAGCATATAGAACATGTTTATTACACACCTTTGTTTAAAATCGCCATAGAGAATCCTGTTTGGGAACCCTTTCCTGCAGATGCGGATGCCCTCCAGGACACCGTTACACCGCAGCTGGTGCAGAACAAGGCTGTGTTCCATAGCCCCTGGGAACAGAAGCGAGATATCAGCCTTACACAGAATTTCTTAAAAACTGAGCACCACCTAGCGAGCCAGCAGGTGTCTCACCTGGAGTTTTGGTTTCATTGGGAATTATACAACGCACAAAATGAGGGTGAGTAGTTCTTAAATTTGACATCAGCTTGTTCAGGTTTTCCTAAGAGAAAAAAAAAATGACATTTGCCATCCTACTGTAGGTTTTTATGAAGACAGAGATCCATTGTAATGAAATAAGATCTATGTTTAAAATTTATCATAAGTTCTAAAGTATAGTGAAATGATTTAACTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCATGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAACCTCCTCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACACCTGGCTAATTTTTCATATGTTTAATGGAGACGGGGTTTTACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGTGCCCGGCCTAACTCAGGCTTTCAATGGTCCTATGGCTGGAGGTGTAGGCTAGTAACTGATACAATTGTCTTTTGTCTCCCAGTGAGCCAGAGGCTCGCCAAGTACAAAATGCTTTCTAAAATCAACTCAGGTGATGGATCCACTGGGAGCGTGAGGTCTATTGCTGGTGTCCTTTAGGAAAATTGGAGAGTTTATGCTGGAAACTCGGACAAGCCAACTCAGCTATCTTTGGTATAAGATAATAGTGATACTCTCATCGCACATTGGTTAGACCGTATTTATTATATTTTATCATCTGTCACTTCACCTCAGTGACAGTAATCAGATTAAGACAACACTACTACTCTCAAATAAATCAAGCTTAGAATCTCAGCATTGCTCATTTAGATGTCACTTAAATCAATTATAAGCAAATAAACTTGTATTTTTCTTACCCTGAAAAGGGCAGAGACAGTTTGGAAGGAAGAACCCTTCTTCTTGGCAACTTTCTTCTTTCCACTGTCAGCTGAAAGCAATAAGGGAGGGCACGTGCTGTAGGTGAATCTAAAAGGTTTTTTGTTACTGTGGAACAAATGGAGGGAAATCACATGGACACAAAGCACTCCTCTTACCATCCGCCGTGGCAAACGTGGCATAGAGGTGTGCCAGGAGCCTGTTGGAAGACTTCTGGTACAGCCCAACCACAGTCTCGTTCAGAGGGTCCTTGTTCTTCTCCAGCCAACCTGAGACACTGTAGTCCACGGTGCCCGCATAGTGGATCAGTGAGAAGTGAGCCTCGGCCCTGCCTTTGACCACCTTGGGCTTCTGGAAGTTGTTGGACTTTCCAAGATGCTGGTCATACAGCTTGTTCTTGAAGGAGGTGTCTGTTGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGAGAAGATGCCCATAGGCTGGATTGAAGGCAAGGCAAAGTGCAGAGAGGTAAATATGAGCTGCAGTAATGAGCAGAAGAGTCTATGAGAAGAGCTTACGGTGGGGATGGAACTGGATACCTTCTCGATGAGCTCGATGCAGGCAGCCAGGTCCATCCCGAAGTCAATGAACGTCCACTCGATGCCTTCCTTCTTGTACTCCTCCTGCTCCAGCACGAACATGTGGTGGTTGAAAAACTGTTGCAGTTTCTCATTGGTGAAGTTGATGCACAGCTGCTCCAGGCTGTTATACTAATAAAAAAATACAACATTCATGTGAAAAGTTAGACTTCTTTCAGAATCAAAGACTGTCAACATTCCTCCTCATTGCCCCAGGTTCCTGTCAAACACATTAATGCTTTCAAATACAATCACAATCTTCAAGGCCTGCCTCAGACCGCATCTCCTCCTTGGCGTCTTCTGTAAACTTCCAATTAGAAGGTGTTTCTCCCTTTCCTGAGTTCCCAAGGTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGAACTACAGGCGCACGCCACCACACCCATCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCATGCCCAGCCGCGGCTATGCACGGTCTAACACAGAACCAGTGGGATATTTATAGAAAATAGTGCGTGATTAACTTATCAAATTCTCTGTATCTATTTGATGGCAGTCCCTAAATCAGTGATTGCATTTAATTTTTTTTCTTTTATCCATTTGAAAATGTCCTTTAAAATTCCACTTGATAGACATCTTCTCCTCTTTTAAAATAATACAAACCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAACACTTTCGGAGGCCGAGGCGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGGTTCACTTGAACTCAGGAAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCATTCTGGCCTGAGTGACAGGGTGAAACTCAGTCTCAAAAAAAAAAAACAAACAAAAAACCCTAATACAAACCCTTCCAATAAGTACCGCTCCTCTATTCCATCCACTCTCCATCTAGTTTCTTACAGGAAACTAAGACAGCCGCCATCTTGCTATCTTCCCTTTAGGATCATGAAACCAATTTCCCTCATATGAAGCCATATGAAAATATGAATATAAGTAACACAAACCTCAAAGATTTCAAAGCCTGCAATGTCCAAAACACCAATGAAGTGTTGTCTTGGAAGCTTCGTATCCAGTTGCTGGTTAATGCGAGTGACCATCCACAAGAACAACTTTTCATAAACTGATTTTGAAAGAGCATTCACAGCATGGTGAACCTATCAGGGGAAAGATCAGCTACTGGATATGAAGGAAGTGGCCAGCAGGGTCCTGCACCCTTTCCCGGCCTTGAAGCTGTTACCTGATCCACAGTTTGACCTTTGGTAACGTACTCATTCCCAACTTTCACTCTAGGAAAGCACAAAGCTTTTAGGAGGTCCGAAGAGTTCAGGCCCATCAGATAGGCTGTTTTGTCAGCCACTGGCAAGAAAACAAGGACAGTGCTTAGAAAAGTAGAAGAGCTGCTTTGAAAATCATCCAGAAGTTTCAAAGGTTGGTTAAGTTCATCTTGGTACATTGTGCATTCCCTGTGGCTAAACTGCATATACATGGCCAATGGAAGCTAAGTCACTCAGAGAATATAATGGACTTTATGAAAAGCCAGGGCTGGGTCTCAGAAAGCCCTGGTCATCCCTCACTGCATCTGAAACAAGACTATTCGAGTGATTCAGGAAAAGCGAGTGGTAACAATAGCTATGGGCATCGGAGGCCCAGAAAGGGTCATTCACTTCTCCAGATGGAAGGATTAATCGCTTCCATCCATTTTTTTTTTTTTGAGACAGTCTTACTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTGCACTGCAACCTCTGCCTCCTGGGTTCAAGAAACTCTCATGCCGGCAGGGCACAGTGGCTCACACCCGTAATCACAGCACTTTGGGATGCCAAGGCAGGCGAATCATTTGAGGTCAGGAGTTTGAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAGTTAGCCAGGCGCGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCTAGCCTGGATGACAGAGCAAAACTCTGTCTGACTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCTCCACCATGCCCAGCTAATTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGGCCCCCTCAG	A	A10638956C	MYH3	NM_002470.4(MYH3):c.1141+131_3256del	coding	Pathogenic
17	10639964	TAAA	T	A10639976G	MYH3	NM_002470.4(MYH3):c.2682+29_2682+31del	noncoding	Benign
17	10639964	TAA	T	A10639977G	MYH3	NM_002470.4(MYH3):c.2682+30_2682+31del	noncoding	Benign
17	10639964	TA	T	A10639978G	MYH3	NM_002470.4(MYH3):c.2682+31del	noncoding	Benign
17	10641379	GA	G	A10641389T	MYH3	NM_002470.4(MYH3):c.1960-8del	noncoding	Benign/Likely_benign
17	10641504	CTGTCTTTTTTTT	C	G10641506T	MYH3	NM_002470.4(MYH3):c.1960-144_1960-133del	noncoding	Benign
17	10641505	TGTC	T	G10641506T	MYH3	NM_002470.4(MYH3):c.1960-136_1960-134del	noncoding	Benign
17	10642115	C	CAGTA	G10642119A	MYH3	NM_002470.4(MYH3):c.1959+124_1959+125insACTT	noncoding	Benign
17	10647058	T	TAAATA	C10647076A	MYH3	NM_002470.4(MYH3):c.898+109TATTT[4]	noncoding	Benign
17	10648683	A	AT	G10648693T	MYH3	NM_002470.4(MYH3):c.643-43dup	noncoding	Benign
17	10651732	TTTA	T	A10651744G	MYH3	NM_002470.4(MYH3):c.349-76TAA[3]	noncoding	Benign
17	10651745	TTG	T	G10651747T	MYH3	NM_002470.4(MYH3):c.349-79_349-78del	noncoding	Benign
17	10652609	CTTT	C	T10652637G	MYH3	NM_002470.4(MYH3):c.205-49_205-47del	noncoding	Benign
17	10652609	CTTTT	C	T10652636G	MYH3	NM_002470.4(MYH3):c.205-50_205-47del	noncoding	Benign
17	10652609	CTTTTTTTTTTTTTTTT	C	T10652624G	MYH3	NM_002470.4(MYH3):c.205-62_205-47del	noncoding	Benign
17	10686581	CAA	C	A10686599T	SCO1	NM_004589.4(SCO1):c.771+144_771+145del	noncoding	Benign
17	10686581	CA	C	A10686600T	SCO1	NM_004589.4(SCO1):c.771+145del	noncoding	Benign
17	10695624	A	AT	G10695631T	SCO1	NM_004589.4(SCO1):c.364+111dup	noncoding	Benign
17	10695699	GAA	G	A10695700G	SCO1	NM_004589.4(SCO1):c.364+40_364+41del	noncoding	Benign
17	10695710	TACAG	T	A10695711G	SCO1	NM_004589.4(SCO1):c.364+27_364+30del	noncoding	Benign
17	10696952	A	ATT	G10696969T	SCO1	NM_004589.4(SCO1):c.273+267_273+268dup	noncoding	Benign
17	10696952	ATT	A	T10696967G	SCO1	NM_004589.4(SCO1):c.273+281_273+282del	noncoding	Benign
17	10697244	C	CG	A10697246G	SCO1	NM_004589.4(SCO1):c.263dup:p.Lys89fs	coding	Pathogenic
17	10697816	C	CG	C10697817G	SCO1	NM_020233.5(ADPRM):c.-18+149_-18+150insG	noncoding	Benign
17	11598806	T	TC	T11598809C	DNAH9	NM_001372.4(DNAH9):c.310dup:p.Leu104fs	coding	Pathogenic
17	11610540	GTT	G	T11610541C	DNAH9	NM_001372.4(DNAH9):c.760_761del:p.Phe254fs	coding	Pathogenic
17	11652899	GA	G	A11652904G	DNAH9	NM_001372.4(DNAH9):c.2497del:p.Arg833fs	coding	Pathogenic
17	11669424	AG	A	G11669425A	DNAH9	NM_001372.4(DNAH9):c.2984del:p.Arg995fs	coding	Pathogenic
17	11689366	G	GTTTT	C11689380T	DNAH9	NM_001372.4(DNAH9):c.3744-190_3744-187dup	noncoding	Benign
17	11689553	CTG	C	G11689557T	DNAH9	NM_001372.4(DNAH9):c.3744-9_3744-8del	noncoding	Benign
17	11690014	AC	A	C11690015T	DNAH9	NM_001372.4(DNAH9):c.4193del:p.Thr1398fs	coding	Pathogenic
17	11744894	TGATGCGCTCCTTGCGG	T	G11744898T	DNAH9	NM_001372.4(DNAH9):c.6213_6228del:p.Met2071fs	coding	Pathogenic
17	11874757	G	GA	G11874768A	DNAH9	NM_001372.4(DNAH9):c.10243-182dup	noncoding	Benign
17	11883756	ACTC	A	C11883760T	DNAH9	NM_001372.4(DNAH9):c.10971+10_10971+12del	noncoding	Benign
17	11962165	CGAA	C	G11962172C	DNAH9	NM_001372.4(DNAH9):c.13143GAA[2]:p.Lys4383del	coding	Benign
17	12715310	C	CCT	G12715311C	MYOCD	NM_001146312.3(MYOCD):c.122-209_122-208insCT	noncoding	Benign
17	12738949	TTA	T	A12738961G	MYOCD	NM_001146312.3(MYOCD):c.592-253TA[5]	noncoding	Benign
17	12760999	CTTCT	C	T12761004A	MYOCD	NM_001146312.3(MYOCD):c.2389+297_2389+300del	coding	Benign
17	12995804	CA	C	A12995807G	ELAC2	NM_018127.7(ELAC2):c.1706del:p.Leu569fs	coding	Pathogenic
17	12996942	CA	C	A12996959G	ELAC2	NM_018127.7(ELAC2):c.1521-258del	noncoding	Benign
17	12998227	T	TA	G12998231A	ELAC2	NM_018127.7(ELAC2):c.1520+182dup	noncoding	Benign
17	12998513	GA	G	A12998519T	ELAC2	NM_018127.7(ELAC2):c.1424-6del	noncoding	Benign
17	13000282	A	AGAG	A13000283G	ELAC2	NM_018127.7(ELAC2):c.1305-9_1305-8insCTC	noncoding	Benign
17	13002208	TG	T	G13002210C	ELAC2	NM_018127.7(ELAC2):c.1304+65del	noncoding	Benign
17	13002814	GA	G	A13002819G	ELAC2	NM_018127.7(ELAC2):c.1080-236del	noncoding	Benign
17	13005283	GGTAACT	G	A13005286C	ELAC2	NM_018127.7(ELAC2):c.871-188_871-183del	noncoding	Benign
17	13005951	AC	A	C13005953A	ELAC2	NM_018127.7(ELAC2):c.766del:p.Val256fs	coding	Pathogenic
17	13016745	CA	C	A13016767G	ELAC2	NM_018127.7(ELAC2):c.367+116del	noncoding	Benign
17	13016745	C	CA	G13016768A	ELAC2	NM_018127.7(ELAC2):c.367+95dup	noncoding	Benign
17	13017093	GA	G	A13017095C	ELAC2	NM_018127.7(ELAC2):c.273del:p.Gln92fs	coding	Pathogenic
17	14074496	C	CTTTA	T14074500A	COX10	NM_001303.4(COX10):c.177+43_177+44insATTT	noncoding	Benign
17	14102330	C	CAT	T14102337A	COX10	NM_001303.4(COX10):c.624+89AT[4]	noncoding	Benign
17	14159682	AATT	A	A14159686G	COX10	NM_001303.4(COX10):c.625-191_625-189del	noncoding	Benign
17	14191977	CT	C	T14191978C	COX10	NM_001303.4(COX10):c.696-11del	noncoding	Benign
17	14206798	A	ACCC	G14206804C	COX10	NM_001303.4(COX10):c.929-9_929-7dup	noncoding	Benign/Likely_benign
17	14206798	A	AC	G14206804C	COX10	NM_001303.4(COX10):c.929-7dup	noncoding	Benign
17	14207351	GT	G	T14207365A	COX10	NM_001303.4(COX10):c.*152del	noncoding	Benign
17	15230797	TGTTTG	T	G15230808A	PMP22	NM_000304.4(PMP22):c.*105CAAAC[2]	noncoding	Benign/Likely_benign
17	15239471	CA	C	A15239472G	PMP22	NM_000304.4(PMP22):c.318del:p.Gly107fs	coding	Pathogenic
17	15239508	GC	G	C15239514T	PMP22	NM_000304.4(PMP22):c.281del:p.Gly94fs	coding	Pathogenic
17	15239608	CA	C	A15239609T	PMP22	NM_000304.4(PMP22):c.181del:p.Trp61fs	coding	Pathogenic
17	15259154	GC	G	C15259156A	PMP22	NM_000304.4(PMP22):c.117del:p.Trp39fs	coding	Pathogenic
17	15981113	CAT	C	A15981114G	ZSWIM7	NM_001042697.2(ZSWIM7):c.231_232del:p.Cys78fs	coding	Pathogenic
17	16000044	GGGCCGGGCGGGGCC	G	C16000057A	TTC19	NM_017775.4(TTC19):c.184+25_184+38del	noncoding	Benign
17	16004153	G	GA	T16004160A	TTC19	NM_017775.4(TTC19):c.520-42dup	noncoding	Benign
17	16026523	TTTTC	T	C16026527T	TTC19	NM_017775.4(TTC19):c.832-13_832-10del	noncoding	Benign/Likely_benign
17	16233930	TA	T	A16233942T	PIGL	NM_004278.4(PIGL):c.236-29del	noncoding	Benign
17	16317957	A	AC	T16317962C	PIGL	NM_004278.4(PIGL):c.660+53dup	noncoding	Benign
17	16939458	CTCA	C	C16939460A	TNFRSF13B	NM_012452.3(TNFRSF13B):c.*86_*88del	noncoding	Benign
17	16940459	CG	C	G16940460T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.497del:p.Thr166fs	coding	Pathogenic
17	16948884	C	CA	T16948886A	TNFRSF13B	NM_012452.3(TNFRSF13B):c.298dup:p.Cys100fs	coding	Pathogenic
17	17213775	A	AC	A17213779C	FLCN	NM_144997.7(FLCN):c.1619dup:p.Ala541fs	coding	Pathogenic
17	17213778	C	CA	G17213780A	FLCN	NM_144997.7(FLCN):c.1616dup:p.Ala541fs	coding	Pathogenic/Likely_pathogenic
17	17213796	CTG	C	G17213802C	FLCN	NM_144997.7(FLCN):c.1597_1598del:p.Gln533fs	coding	Pathogenic
17	17213810	TG	T	G17213813T	FLCN	NM_144997.7(FLCN):c.1584del:p.Glu530fs	coding	Pathogenic/Likely_pathogenic
17	17213815	C	CT	G17213816T	FLCN	NM_144997.7(FLCN):c.1579_1580insA:p.Arg527fs	coding	Pathogenic
17	17214142	G	GAAGA	A17214153G	FLCN	NM_144997.7(FLCN):c.1539-294TCTT[3]	noncoding	Benign
17	17215047	GT	G	T17215049G	FLCN	NM_144997.7(FLCN):c.1475del:p.Asn492fs	coding	Pathogenic
17	17215172	T	TG	C17215178G	FLCN	NM_144997.7(FLCN):c.1432+12dup	noncoding	Benign
17	17215263	C	CAGGGTGG	A17215279G	FLCN	NM_144997.7(FLCN):c.1347_1353dup:p.Val452fs	coding	Pathogenic
17	17215264	AGGGTGGAGGGTGGAACGTGC	A	G17215267C	FLCN	NM_144997.7(FLCN):c.1333_1352del:p.Ala445fs	coding	Pathogenic
17	17215273	G	GGTGGAAC	C17215284G	FLCN	NM_144997.7(FLCN):c.1337_1343dup:p.Leu449fs	coding	Pathogenic
17	17215295	AC	A	C17215297T	FLCN	NM_144997.7(FLCN):c.1321del:p.Val441fs	coding	Pathogenic
17	17215303	G	GAT	G17215306A	FLCN	NM_144997.7(FLCN):c.1312_1313dup:p.Val439fs	coding	Pathogenic
17	17215307	AC	A	C17215308A	FLCN	NM_144997.7(FLCN):c.1309del:p.Val437fs	coding	Pathogenic
17	17215314	ACT	A	C17215317G	FLCN	NM_144997.7(FLCN):c.1301_1302del	coding	Pathogenic
17	17216360	CAGCCCGCGGGGGCACGCACCTGAGGAG	C	C17216364A	FLCN	NM_144997.7(FLCN):c.1293_1300+19del	noncoding	Pathogenic
17	17216414	CG	C	G17216417C	FLCN	NM_144997.7(FLCN):c.1265del:p.Pro422fs	coding	Pathogenic
17	17216418	C	CT	G17216420T	FLCN	NM_144997.7(FLCN):c.1261dup:p.Ser421fs	coding	Pathogenic
17	17216427	A	AG	A17216430G	FLCN	NM_144997.7(FLCN):c.1252dup:p.Leu418fs	coding	Pathogenic
17	17217103	AC	A	C17217104G	FLCN	NM_144997.7(FLCN):c.1141del:p.Val381fs	coding	Pathogenic
17	17219051	GC	G	C17219052A	FLCN	NM_144997.7(FLCN):c.1029del:p.Pro344fs	coding	Pathogenic
17	17219085	G	GA	G17219087A	FLCN	NM_144997.7(FLCN):c.995dup:p.Ser333fs	coding	Pathogenic
17	17219142	CA	C	A17219144C	FLCN	NM_144997.7(FLCN):c.938del:p.Leu313fs	coding	Pathogenic
17	17219161	TC	T	C17219163T	FLCN	NM_144997.7(FLCN):c.919del:p.Glu307fs	coding	Pathogenic
17	17221565	ATCCTCGGTCGGAGCACC	A	C17221567T	FLCN	NM_144997.7(FLCN):c.826_842del:p.Gly276fs	coding	Pathogenic
17	17221580	A	ACT	C17221582T	FLCN	NM_144997.7(FLCN):c.827_828insAG:p.Ala277fs	coding	Pathogenic
17	17221597	CG	C	G17221599T	FLCN	NM_144997.7(FLCN):c.810del:p.Glu271fs	coding	Pathogenic
17	17221605	CG	C	G17221607C	FLCN	NM_144997.7(FLCN):c.802del:p.Arg268fs	coding	Pathogenic
17	17221615	AC	A	C17221616G	FLCN	NM_144997.7(FLCN):c.792del:p.Cys265fs	coding	Pathogenic/Likely_pathogenic
17	17222505	CA	C	A17222508G	FLCN	NM_144997.7(FLCN):c.774del:p.Phe258fs	coding	Pathogenic
17	17222524	CG	C	G17222525C	FLCN	NM_144997.7(FLCN):c.755del:p.Ala252fs	coding	Pathogenic
17	17222525	G	GC	A17222529C	FLCN	NM_144997.7(FLCN):c.754dup:p.Ala252fs	coding	Pathogenic
17	17222655	C	CA	C17222659A	FLCN	NM_144997.7(FLCN):c.624dup:p.Glu209Ter	coding	Pathogenic
17	17223922	C	CT	G17223925T	FLCN	NM_144997.7(FLCN):c.617dup:p.Val207fs	coding	Pathogenic
17	17224060	G	GTCCT	G17224066C	FLCN	NM_144997.7(FLCN):c.476_479dup:p.Asp160fs	coding	Pathogenic
17	17226190	T	TC	G17226193C	FLCN	NM_144997.7(FLCN):c.381dup:p.Ser128fs	coding	Pathogenic
17	17226250	T	TG	A17226252G	FLCN	NM_144997.7(FLCN):c.321dup:p.Ser108fs	coding	Pathogenic
17	17226251	GAC	G	A17226252G	FLCN	NM_144997.7(FLCN):c.319_320del:p.Val107fs	coding	Pathogenic
17	17226255	T	TATTTA	G17226263T	FLCN	NM_144997.7(FLCN):c.312_316dup:p.Tyr106fs	coding	Pathogenic
17	17226269	CTCTT	C	C17226271A	FLCN	NM_144997.7(FLCN):c.299_302del:p.Lys100fs	coding	Pathogenic
17	17228058	GCGTGCAGCACCTC	G	C17228066A	FLCN	NM_144997.7(FLCN):c.67_79del:p.Glu23fs	coding	Pathogenic
17	17228079	AAG	A	A17228084T	FLCN	NM_144997.7(FLCN):c.57_58del:p.Phe20fs	coding	Pathogenic
17	17228107	AG	A	G17228108A	FLCN	NM_144997.7(FLCN):c.30del:p.Cys11fs	coding	Pathogenic
17	17236890	A	AACCCCTCAGACCCCCGCCT	T17236913C	FLCN	NM_144997.7(FLCN):c.-228+3_-228+21dup	noncoding	Benign
17	17710075	CGGCCACGCTCATGTCAGGATTCTGAAGACCTCGAGCACACACAGACACGCACCTGGTCACGTGCACTTTCACACATACACTTGGCACCAGGGTGGCAGCAGCGGAGGTGACTGAGAAGCCTGCTTTTCACAGAGAATCAGAACCCAGCGGGGGCTTTAGCCACAAAAAAAGAGCATTTCAAGGAGAAGGGCTGCCTGCATGCCAAGCACACGCCCCTCACCTACCCAGGACCCCTTGTGGGAGCTGAGCCCCATGGAGACCCCGGGGTACCCATCCCACCCTCCAACATCCATCCCTACGTGGATATACGGCCACAGTTGCAGCTGCGGCCATGAGGAGGGGTTTTTGCTCCTTTTTAGCAGTGCTCCATCCCCCACCCCAGAGTACAGGGGGCTGCCCAGAGACCCTCCTGGCCCTGGGGGCCTGTGAGTCAGAGGCTGCCAGTGGTGGCCTTTCGGCTGTTGCTGGGGAAATGGCAGCACAGTGGCCACCAAGACTAGGACTCCCTGGGGAGGCCCTGCTGGCCCTGGCACTGGTGGCTTGGCCTCACCCAGCCCCACCTGGCAGATGTGCCCCTTGTGGCTACCCAAGGACTGGCCCCCTCCTCATTTCAGAGGTGGAGAAACTGAGGTAAAAAAGTGGAGACAGCCAGGGCACCCCTCCCACAAGGCCCTGCCTCATTTGAGACAGAGCCCTCTGGGAAGCCTGTGCATTCTGTAGGTGGGGACCTTTGGGGCCATTTTTTCCAGAGGCCCAGAGAGGGCCGTCTTCTTGCCCAAGGTCACACAGCAAGTTCATGGCATAAGCTAGCCAGCCTCGTACTCCAGAGCTCTCCTGAGGGCCCCCATGTGTCTGTGCGGGGGTGTTGATGGGGGGCAGGTGGGAGGGAGGAGGTAAGGCTGATTTGTTTCCCAGCCTCCTCCCCCTCCCCTGCTCCCTTCTCTCCCTCACACGGTTTGTTTGGAGAATGACTCACAGGAATGCAGCAAAATCCTGATGGATGGGAAGGCAGGGCCGCAGTACCCGGAAAACCTCTCCAGGGTAGGGAGGCGGGGCTGAGCCTTGGGGCCTGAGAGGCTGGTGATAGGGGAGCCCTGCATGCAGGTGGGGCGACTGAGGCCCTGGAAGAACTCTGGTCACGTCCTGGCTGGGGGTTGTCCCTCCTCGACAGAAACACACAGGCCCTGGCTGCCGCAGCACCCCTGGAGCACCCGTCCCCCATGATTTCCATCTTTGTGTCCCCGAGGCATCTGGTGCACTGTAGCTGACAAACACATGCATTTTGGCACTGAGTGTGACCCAAGTCAGACCCTCCTGTGTGTGCCCTGTCCCCCAGGTCCTCCCAGCTCCCCGGAGTTGGGGGGCGGGTGCTTGCCATTCAGTCCTTTCAGAGGCAGCCAAGGGCCTACGGCATGCTGGACACTGCCAGGGGCTGGGGAGGCTGGGATGGAGCTGGAGGGAAGTGGGAGGTGTACACGGGATGGACACCTCCTGTGTATGTTCCAAATGTGCTGGAGGCCTCAACAGGTCTTGGTACAAGGTGAGGCAAACCTTAGAGGACCTAGGATGAAGTTTCACGTAAAGGAACAGTGGCTGTAAGGGCTCCCAGAAAGTGTAGGGACCCTGGGAAGGTCCCAGTCTTTGAATAAAGGTGGGTGGGACCTTATTGGTAGCTTGGGGCATTAGGGCCCAGATATCAGGCAGCAGCATGAGGTGAGGCCCGGGCTCTGTCCCAGGGCAAGCCCTCCTCCTGCGCACCACATCTGGGGCCTCCGAGGAGGGACAAAGCATTCAACTCCCGGGACCTGTGGGTGGGAATGTCCCCAGGCCCAGCCCTTTAGTGCCTGCTGATGGCTGTCACGCGGTGTCCGGCCCTGATGACCAGATATGTGTTTTCAAGAGAAGCTGGAATTTGGATTTTTATGTGAACTCTCCTGATTCTCAAATGCTGGCTCCGTTAACAAAAGGCACAGTGTGGTTTAAACCACACATGTCCGCAGGCAGAGGACCACCAGTTTCTAATGTCTGCGCTGTGGGGCGCTTGGGTTTTTGCATTTGGTTCTTTTACATTCCTTATTTTATTGGAAACAGCCCAAATAGTCACTGAGCTGCAACTCTGTGCTAGGTGCCGGGGCTCTATCAGCGAATAAAACAACATGTGACGGAGCTGCCATTTTAGTGGGAGAAGACAGTGAATAAACATATATCAGGTGATATGTGTTAGGAAGCAAATGGAAGCAGGGCTCCAGAACAGAGAGCGGCTGCAAGGCCAAGCCCACATTTGGGTGGAAGGGGCAGCTAGTGCAAAGGCCCTGAGGTGGGGCTATGCTAGGTGTGTTAGAGGCCTGTGTGGCTGCAGCGGGAGTGGGTGGGGAAGTGGGAGGAGGTGAGGTCAGAAGGTAGCATAGGTCAAATGGCATAGGAGACTGTGGGCTGTGGTATAAGCTTGGTTTTAAGTCTTATGTGAGGTGGGAGCCATGGAGGATTCCTAGGGAGGGAGGGTCAGGATCAGACTTGGTTTAACAGGCTCTGTCTGGGTGTTGTAATGGCTGAGTGGGGCAAGGATGGGCCTAGGAGGCCCAGAAGGGGCTATTGCACTTGTCTGGCTGAGTGATGATGCGGCCTGAACAGGAAGGGGGTAGTCACCAGAGGGTGACCTGAGGAAACTGTGGTCAAGCCTCTCCATGGTGTAAACAGTAAACACGATACTGATTCTAAGGACTTGGTAGTAACATGGAAATGGTGACTGTGTATAATGCTATGTGAAAATAGGATTAGAAAATTGTACATTAAAAACACACCAGCCCAGATGCAAAAGGCTGCAGATCATATGATTCCATTCATACGAAATGCCCAGGACAGGCGAATCCAGAGAGACAGACAGGAGGTGAGCAATTGCCAGGGGCTGGGGGTGGGGAAATGGGGGGTGACTGCCTATGGGAACAGGTTTCTTTTTGGGAGGGGGATGAAAATGTTCTGAAATTAGGTAGCAGTGATAGTTGCACAACTTCATGAATATACCAAAACCCTGAGTTGTCCCCTTTAAAAGGGTGAATTTTATAGTGAGTGAATTATACCTCAAAAAAAAAATTTTTTTTAAGGCATGTCCAGATTTCTAACCAAAATTGGATGCACATAGAAAACATTGCAAGGAGCTGGGCGTGATGGTGCCTGTGGTCCCCACTGCTTGGGAGGCCAAGGCAGGTGAATCACCTAAGCCCAGGAGTTCAAGACTAGAGCCTGGGTGATATAGTGAGATCCTGTCTCTAAATAATAATAATAGGCCAGCTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGCACGGATCACCTGAGGTCAGGGGTTCGAGACCAG	C	G17710076C	LOC112529899;RAI1	NM_030665.4(RAI1):c.-148-13952_-148-10583del	noncoding	Pathogenic
17	17793190	GCAGCAAGGCCCTGCCCACA	G	C17793201T	RAI1	NM_030665.4(RAI1):c.253_271del:p.Leu85fs	coding	Pathogenic
17	17793782	G	GCAA	G17793785A	RAI1	NM_030665.4(RAI1):c.836_837insACA:p.Gln291dup	coding	Benign
17	17793785	GCAGC	AT	G17793785A	RAI1	NM_030665.4(RAI1):c.837_841delinsAT:p.Gln280_Gln281delinsTer	coding	Pathogenic
17	17793807	CAG	C	A17793808C	RAI1	NM_030665.4(RAI1):c.860_861del:p.Gln287fs	coding	Pathogenic
17	17794393	GC	G	C17794397G	RAI1	NM_030665.4(RAI1):c.1449del:p.Glu484fs	coding	Pathogenic
17	17794732	C	CG	C17794734G	RAI1	NM_030665.4(RAI1):c.1785dup:p.Arg596fs	coding	Pathogenic
17	17795170	C	CCA	A17795173C	RAI1	NM_030665.4(RAI1):c.2223_2224dup:p.Asn742fs	coding	Pathogenic
17	17795332	A	AG	A17795335G	RAI1	NM_030665.4(RAI1):c.2386dup:p.Glu796fs	coding	Pathogenic
17	17795719	CCGTCATCCTGCTGGGCCCTACAGTGGGCA	C	G17795721C	RAI1	NM_030665.4(RAI1):c.2773_2801del:p.Val925fs	coding	Pathogenic
17	17796122	TTC	T	T17796127A	RAI1	NM_030665.4(RAI1):c.3179_3180del:p.Leu1060fs	coding	Pathogenic
17	17796199	T	TG	C17796206G	RAI1	NM_030665.4(RAI1):c.3257dup:p.Lys1087fs	coding	Pathogenic
17	17796678	CGCAGCA	C	G17796691A	RAI1	NM_030665.4(RAI1):c.3731GCA[4]:p.Ser1248_Ser1249del	coding	Benign
17	17797216	GT	G	T17797219C	RAI1	NM_030665.4(RAI1):c.4271del:p.Phe1424fs	coding	Pathogenic
17	17797470	TC	T	C17797473A	RAI1	NM_030665.4(RAI1):c.4525del:p.Gln1509fs	coding	Pathogenic
17	17798207	GC	G	C17798213A	RAI1	NM_030665.4(RAI1):c.5265del:p.Arg1756fs	coding	Pathogenic
17	17809961	C	CT	G17809966T	RAI1	NM_030665.4(RAI1):c.5710-5dup	noncoding	Benign
17	18028570	C	CAA	G18028588A	ATPAF2	NM_145691.4(ATPAF2):c.178+28_178+29dup	noncoding	Benign
17	18039405	G	GGT	C18039418G	ATPAF2	Single_allele	noncoding	Benign
17	18118997	GCC	G	C18119001A	MYO15A	NM_016239.4(MYO15A):c.201_202del:p.Gln68fs	coding	Pathogenic
17	18119010	CA	C	A18119012G	MYO15A	NM_016239.4(MYO15A):c.212del:p.Lys71fs	coding	Pathogenic
17	18119141	G	GC	G18119144C	MYO15A	NM_016239.4(MYO15A):c.343dup:p.Arg115fs	coding	Pathogenic
17	18119149	TACGGCCGCCTGCGG	T	A18119150C	MYO15A	NM_016239.4(MYO15A):c.350_363del:p.Tyr117fs	coding	Pathogenic
17	18119654	A	AT	C18119656T	MYO15A	NM_016239.4(MYO15A):c.855dup:p.Pro286fs	coding	Pathogenic
17	18119699	AT	A	T18119700C	MYO15A	NM_016239.4(MYO15A):c.900del:p.Pro301fs	coding	Pathogenic
17	18119996	AT	A	T18120001A	MYO15A	NM_016239.4(MYO15A):c.1201del:p.Tyr401fs	coding	Pathogenic
17	18120401	TC	T	C18120403T	MYO15A	NM_016239.4(MYO15A):c.1603del:p.Leu535fs	coding	Pathogenic/Likely_pathogenic
17	18120457	CG	C	G18120461C	MYO15A	NM_016239.4(MYO15A):c.1661del:p.Gly554fs	coding	Pathogenic
17	18121064	T	TCGGCTTC	C18121073G	MYO15A	NM_016239.4(MYO15A):c.2266_2272dup:p.Pro758fs	coding	Pathogenic
17	18121165	TGCTCACCCTTG	T	T18121168G	MYO15A	NM_016239.4(MYO15A):c.2368_2378del:p.Ser790fs	coding	Pathogenic
17	18121756	AC	A	C18121758A	MYO15A	NM_016239.4(MYO15A):c.2958del:p.Arg987fs	coding	Pathogenic
17	18121917	TC	T	C18121923A	MYO15A	NM_016239.4(MYO15A):c.3123del:p.Lys1042fs	coding	Pathogenic
17	18121935	TC	T	C18121941A	MYO15A	NM_016239.4(MYO15A):c.3141del:p.Lys1048fs	coding	Pathogenic
17	18130817	A	AGTGTGTGT	C18130872G	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[31]	noncoding	Benign/Likely_benign
17	18130817	AGT	A	G18130870C	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[26]	noncoding	Benign/Likely_benign
17	18130817	AGTGTGTGTGTGTGT	A	G18130858C	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[20]	noncoding	Benign
17	18135824	CGT	C	T18135826A	MYO15A	NM_016239.4(MYO15A):c.4596+2_4596+3del	coding	Pathogenic
17	18136421	CAA	C	A18136422T	MYO15A	NM_016239.4(MYO15A):c.4602_4603del:p.Met1535fs	coding	Pathogenic
17	18138237	CT	C	T18138240C	MYO15A	NM_016239.4(MYO15A):c.5001del:p.Gln1669fs	coding	Pathogenic
17	18139593	C	CACAG	G18139594A	MYO15A	NM_016239.4(MYO15A):c.5193_5194insACAG:p.Val1732fs	coding	Pathogenic
17	18141348	TATA	T	A18141352T	MYO15A	NM_016239.4(MYO15A):c.5531+209_5531+211del	noncoding	Benign
17	18142147	CCTCA	C	A18142151T	MYO15A	NM_016239.4(MYO15A):c.5722_5725del:p.Thr1908fs	coding	Pathogenic
17	18142158	A	AG	C18142160G	MYO15A	NM_016239.4(MYO15A):c.5730dup:p.Arg1911fs	coding	Pathogenic
17	18144357	G	GC	T18144360C	MYO15A	NM_016239.4(MYO15A):c.6178-138dup	noncoding	Benign
17	18144458	T	TC	A18144461C	MYO15A	NM_016239.4(MYO15A):c.6178-37dup	noncoding	Benign
17	18144799	G	GA	C18144800A	MYO15A	NM_016239.4(MYO15A):c.6273+207_6273+208insA	noncoding	Benign
17	18144800	C	CAAA	T18144820A	MYO15A	NM_016239.4(MYO15A):c.6273+225_6273+227dup	noncoding	Benign
17	18144800	C	CAA	T18144820A	MYO15A	NM_016239.4(MYO15A):c.6273+226_6273+227dup	noncoding	Benign
17	18144800	C	CA	T18144820A	MYO15A	NM_016239.4(MYO15A):c.6273+227dup	noncoding	Benign
17	18149272	AG	A	G18149274A	MYO15A	NM_016239.4(MYO15A):c.7015del:p.Glu2339fs	coding	Pathogenic
17	18151154	TC	T	C18151159T	MYO15A	NM_016239.4(MYO15A):c.7523del:p.Pro2508fs	coding	Pathogenic
17	18151437	CTG	C	T18151438A	MYO15A	NM_016239.4(MYO15A):c.7698_7699del:p.Glu2567fs	coding	Pathogenic
17	18153826	TG	T	G18153827C	MYO15A	NM_016239.4(MYO15A):c.8019del:p.His2674fs	coding	Pathogenic
17	18153872	CT	C	T18153873G	MYO15A	NM_016239.4(MYO15A):c.8065del:p.Trp2689fs	coding	Pathogenic
17	18154170	C	CT	G18154173T	MYO15A	NM_016239.4(MYO15A):c.8130dup:p.Asp2711Ter	coding	Pathogenic
17	18154681	TC	T	C18154683T	MYO15A	NM_016239.4(MYO15A):c.8152del:p.Leu2718fs	coding	Pathogenic
17	18155335	CA	C	A18155336G	MYO15A	NM_016239.4(MYO15A):c.8363del:p.Gln2788fs	coding	Pathogenic
17	18156317	TC	T	C18156318A	MYO15A	NM_016239.4(MYO15A):c.8583del:p.Phe2861fs	coding	Pathogenic
17	18157065	GGTCA	G	C18157068G	MYO15A	NM_016239.4(MYO15A):c.8713+3_8713+6del	coding	Pathogenic
17	18157186	AGGT	A	G18157191T	MYO15A	NM_016239.4(MYO15A):c.8746GTG[1]:p.Val2917del	coding	Pathogenic
17	18157458	CTCTT	C	C18157460A	MYO15A	NM_016239.4(MYO15A):c.8788+230_8788+233del	noncoding	Benign
17	18157759	C	CT	C18157762T	MYO15A	NM_016239.4(MYO15A):c.8828dup:p.Ser2945fs	coding	Pathogenic
17	18157872	C	CT	G18157874T	MYO15A	NM_016239.4(MYO15A):c.8940dup:p.Ala2981fs	coding	Pathogenic
17	18158530	C	CA	G18158532A	MYO15A	NM_016239.4(MYO15A):c.8976dup:p.Val2993fs	coding	Pathogenic
17	18161398	C	CA	C18161400A	MYO15A	NM_016239.4(MYO15A):c.9469dup:p.Thr3157fs	coding	Pathogenic
17	18162686	ATAGGGTGGGAGTGGGTTCAAAATGAATGGGAGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATGTCAAAAAACAAAAACAAACACACACAAAAAAATGAATGGGAGACACAAGCCCTGCCCAGAGACCTCTCTGTCAGGTGCATTGCACTCAGGGGCTTGCAGACAGGCCCTGCGCGGTCCAGGTGCTCAAGTGTTCCTACACGTGCCAGCCCAGGATCCTTTGGCTTGGGAACTCCCAGGGCAGGAGACAAGGGCTGTCCCAGATCCTAGGACCCAACCTGTCATCCCTCTCCCACCTATCTACCCCAGGCAGGCCGCAGTTCCAAGAGGCAACTCTTTCTTCTTCCTGGAGGCCTTGAACGCCATCTCAAAATCAAAACATGCACTGTAAGTGAAGAAATGTCTCCTGCAGCCAGGTACTGGAGGGGCAGGGACAAGGACAGCCCAGGCTCCAGGATGGGGGTGGAGTAAGCCCCCAATGATGCTGAGCCCTCCCAGGCTCTCCCACAGCCCCACAAGGCAGGACTTATTTCTCAGAAGAGCAAACTGCACCTCAGAGAGGTTAAGCCTCTGGCTCAGGGTCATCCTGCAAAAAAGGGACAGAAGCAGATTTTAAACCTAAGTCTCAGACCACAAGCTGTGTTCTTTCCCTGCCTGAGGCTGATTCTCAGAGACCTCAGAGGATTGTGCGCCTTTGTGAAGAGGGCTGAGGAACTCCACACATGGCCTCTGGGGGCCTGAGTGGGGCCAGAAGGACAGAGGTCAAGCCCAACTGGCATGGCCTCATCTCTTCCGCCCCACCCCCAGGTGGCCCTGGACGTGGTGGAAGAGATATGTGCTGAGATGGCTCTGACACGCCCTGAGGCCTTCAATGAATATGTTATCTTCGTTGTCACCAACCGTGGTGAGTGCCAGGAAGACTGAGCATGCTGGGCCCATTCCCATCCCCGGGCCTTGTGCCATGTGGGGCCCTCCACCCAGATTTTAGGGCCCAAGTCAGGTGCCACTTCCTCCAGGAAGCCCCTTGACCCCCATGTGGAAGGATCTCTGTGTGTACCAAGCACGCCCAGCCCTTTATCTGTCCCTTTCTGCTTTGCTTAGTTTGCCTCACCTTATGATGAGAGCCCTCTCTCATCCCTCCCTTTGTCCCTCAGGACATGCTCAATGTGAGGACACAGGCCGTGCCCTCAAGGAGATTACATCCTGGAAAGGTTTCCATTAATAGCGCCGCATATTATGGAACCTATAGGAACCTATAGGTGCAAGCCTTCTTTCCTGCCTTTCATGCCTTAATAATGGCCAGAGAAGCCCCTCCCGAGGTGTCACTAGCCCCTCTCGAGGGCTCCTGGGACCCTAGGTGACCGTCATGCATCCCAAAGCCCCTTCCATCTGCTGACTGCCCACTCTAGATCATGGTCTTCCCTCCTGTCACCAGCTGGTCAGCTCCAGCAACCCCCAGCCAGCTCTCCCTACTGCTGCCTCAGTCCTCAGCCATGTGCCATCAGCCCTGCCTGCCCAAGTCCAGCTAAGACATTAGGGGAGAATGGCAGGTAACAAAACGGTCCTAATAACTGATATTTATTGAACGGATGCTGTGCCCCAGGTATAATTCAAAGCATTTCAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCTCTTGAGGCCAGGAGTTTCAGGGCAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAAATTAGCCAACCATGGTAGTGTGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCACAACAATCACTTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCATGATCATGCCACTGTACTCCAGCCTGGGTGATGGAGTGAGACTCTATCTGCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCTTGCACCTTTAATCCCAGCACTCTGAGAGGCCGAGGCGGGTGGATCACCTAAGGTCGGGAGTTCGAGACCAGCCTGAGCAACATGGAGAAACCACATCTCCACTAAAAATACAAAATTAGCCAGGCATGGTGACGTTTGCCTGCCACTCAGGAGGGTGAGGCAGGAGGTTGCAGTGAGCTGAGATCGTGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGCATTTCATTCTGTGAACTCTTTTAATCCCCACGACAACCTTATGAAGTGGATGGAGACTGTTAGCTTTTCCATTTACAGATGGGAAAACTGAGGCCCAGGGAGGCTGTATTAGTTTTCTATTGTTGCTATAACAGATTATCACAAATTTAGTGGCTTAAAAAAACATAAATATATTACCTTATAATTCTGAAAGTCAGAAGTTCTAAAATGAAAATGGCATCAGGGCCAGGTTCCTTCTGGAAGCTCTAGGGAATAATTTGTTTCCTTTCCTTTTCCGGCTTCTAGAGGCTGCCCGCATTCCTTGGCCCATGGCCCTTTCCTCCATCTCCAAAGCCAGCAGTGTAGAATCCTCATATCTCTCTCCCTGCCAGCCTCTGCTTCTGGTCTCACATCTCCTCCTCTGATTCTGACCCTTCTGCTTTCCTCTTATGAGGACCCATGTGCTGATGACACTGGGCCTGCTTGGATAATCCAGGATCATCTCCATCTCCACATCCTTAACTTAATCACATGTGCAGAGTGCCTTTTGCCAGGAAAGTGACATATTCATAAGTTCTAGGGATTAGGACCTGGACATCTTTGGAGGGGTCATTATTCAGCCTGCCACAGAAGCTGTGACTTACAGTCACACAGTGGTAATCATGTAATCATACCAAACTCCCTCTCTTTAGTAAGATTTTACTGCAGGTGTGAGATGGGTGGCAAAAATGTCAGTGCAAGAGAGAAAGACTTGAGCTTCTCCCAGGCTCAGACCCCAGTCCTCCCCACCCCCACCTATGCCAGGTACCTGGCAAGGGGTCTCTCCTGAAGGAGGTCTGCAGAAAGGCACCCACTGGGTCTCATAGTGTGAGGCCTCTTGTGTTTGTCCTTGTTCCCAGCCTCCTCTGGAAAGGAGCTGGGCCTTCTCTGAGAATAATGCAGGGCACTTTCCCAGATCCAGGCAGGCCACACTCGGGGCACTCCTCAGGAGCCCCTCTTTCCCCAGGAGAAATGGAGCATTACTTAAAGCTTTGAATTGGAGTTATTACCATCTGTGGTCATCAATATTTCAGTAAAACATAGGACACCCCATTCGACAAGCATGCTCTCCTTTAATGAGGAAGCTGTGTCCCAGAACAGGCAGGTGGCTTGTCCGAGGTGATACCTCACCTGGGTAGCAGATTGGGGTCTGCACACATGCTCTGTACAGGTGCACACATGTGTGTGCACACATGCCCCCACCCAGCCCTGCCTCCCTGCTCTCTGCAGGCCAGCATGTGTGCCCACTCAGTCGCCGTGCTTACATCCTGGATGTGGCCTCAGAGATGGAGCAGGTGGACGGCGGCTACATGCTCTGGTTCCGGCGTGTGCTCTGGGATCAGCCACTCAAGTTCGAGAATGAGCTATATGTGACCATGCACTACAACCAGGTCAGCACACGTAGGCTTCTCTGGACTCTGGGACCTTCTAGGCTCCCCTGGGCCTGTGAATCAGACTCCACAGCCTTGGTGTTTGAAGTGTTCATGATTCAGGCCCTGTGGATGTCTCTAGCCCTGATGTCTCTGCTCCCCTATGTGGTCTCTTTGGAGAAATCGAAACAGCCCTCACCACCTTTGAGAGCCTTTGCGCATGCCATCCCTCCATCTGTGCTTCCTGACTTATTTAAGTCCTTCCCAGCAAGCTGCCCCCAAACAGCACCTCTTCCATTAGGCCTTCTTTGCATTCCCCTTTCCTTCGGATGTCTTCCTCCTCTGAACATGGGCCTGTCCTTTGCTCCAAGTGCTAAGCCAGGCTTTGCTAGTACTGTCATTTTTGTCTGTGTGTTATTCTGTGAGACTTAGAAGTCCTCTAAGTCAGGATCATGGAGTTTACAAAGTCTAGGTTTCTCCTACTGTGCCAGTATGTGTGGAAGTGCTTGGACAGAAAGTGTGTGTTTTTGTGGAACTGGTGCCAAAACTTCAGGAATTGTACACAATATGGTCACGTAGATTTTGTGGCCACGTGGTGTCACTGTTGAAGCATGGCCCTGTGCAGTCCAGCACCATGCTACTCAACCTGAGGCTTGTGGACTGGCAAAAACGGGAGGCAAATCCTCAAGTCCCGCCTCAGACCTCCTGCCTCAGACCCTCAGGAGCCCAGCCTGGCTGTCTGTTTTGGCAAGCCCTCCCGTGGCTCAGGCACACTCAGTTTTGAGAAACAGCAGGCCTGATAGATACATGTCCACACTGCAGTGTTGATGCTCTGCTCTCACCAGCCAGCCCACATCCTACACAAGGTTGCTGTGGGGACTCCCTCATGGGCATCAAGGCCACAGCCCTCCCACGTCACCCTTATGTGCTTCTGCCATCATTCCCCGAAACCCAGGAAAGTAATAGGCCATCCTACCCCAGAAGAGGATGGGGCTGCAATCATTAAACATGCATGTCCCCAGGTCCCCTGCAGCCAAGTGCCTGCACGCGTGCCTGCCTGGCAGCCCCTCACCCAGGTGCTCCCTGCAGGTCCTGCCTGACTACCTGAAGGGACTCTTCAGCAGTGTGCCGGCCAGCCGGCCCAGCGAGCAGCTGCTGCAGCAGGTGTCCAAGCTGGCTTCACTGCAGCATCGCGCCAAGGACCACTTCTACCTGCCGAGCG	A	A18162688G	MYO15A	NM_016239.4(MYO15A):c.9612+9_10082del	noncoding	Pathogenic
17	18166513	TA	T	A18166514C	MYO15A	NM_016239.4(MYO15A):c.9941del:p.Tyr3314fs	coding	Pathogenic
17	18166515	CA	TGTGTG	C18166515T	MYO15A	NM_016239.4(MYO15A):c.9942_9943delinsTGTGTG:p.Asn3315delinsValTer	coding	Pathogenic
17	18172190	CCTT	C	T18172198A	MYO15A	NM_016239.4(MYO15A):c.10252TTC[2]:p.Phe3420del	coding	Pathogenic
17	18173848	CCAGCT	C	C18173849A	MYO15A	NM_016239.4(MYO15A):c.10419_10423del:p.Ser3474fs	coding	Pathogenic
17	18178811	CTGCTCAG	C	T18178815C	MYO15A	NM_016239.4(MYO15A):c.10538_10544del:p.Leu3513fs	coding	Pathogenic
17	18302436	TGGAGAGTGAA	T	G18302450A	TOP3A	NM_004618.5(TOP3A):c.644-12_644-3del	noncoding	Benign
17	18306970	GAA	G	A18306973G	TOP3A	NM_004618.5(TOP3A):c.315-6_315-5del	noncoding	Benign
17	19362487	C	CG	T19362492G	B9D1	NM_015681.6(B9D1):c.63+19dup	noncoding	Benign
17	19648997	G	GAC	G19649001C	ALDH3A2	NM_000382.3(ALDH3A2):c.28_29dup:p.Gln10fs	coding	Pathogenic
17	19649121	CAA	C	A19649122G	ALDH3A2	NM_000382.3(ALDH3A2):c.151_152del:p.Lys51fs	coding	Pathogenic/Likely_pathogenic
17	19651544	CAG	C	A19651547T	ALDH3A2	NM_000382.2(ALDH3A2):c.154_155delAG	noncoding	Pathogenic/Likely_pathogenic
17	19651675	GGCCTATATTCA	G	T19651679A	ALDH3A2	NM_000382.3(ALDH3A2):c.286_296del:p.Tyr96fs	coding	Pathogenic
17	19651756	AC	A	C19651757T	ALDH3A2	NM_000382.3(ALDH3A2):c.364del:p.Pro121_Leu122insTer	coding	Pathogenic/Likely_pathogenic
17	19652874	CTG	C	G19652878T	ALDH3A2	NM_000382.3(ALDH3A2):c.471+246_471+247del	noncoding	Benign
17	19656430	AC	A	C19656432A	ALDH3A2	NM_000382.3(ALDH3A2):c.538del:p.His180fs	coding	Pathogenic
17	19656498	AC	A	C19656502T	ALDH3A2	NM_000382.3(ALDH3A2):c.608del:p.Pro203fs	coding	Pathogenic
17	19656532	CAT	C	A19656533G	ALDH3A2	NM_000382.3(ALDH3A2):c.639_640del:p.Cys214fs	coding	Pathogenic
17	19656573	AG	A	G19656575T	ALDH3A2	NM_000382.3(ALDH3A2):c.680+1del	coding	Pathogenic
17	19657698	GACTGAATT	G	C19657708T	ALDH3A2	NM_000382.3(ALDH3A2):c.681-37_681-30del	noncoding	Benign
17	19657759	G	GA	T19657764A	ALDH3A2	NM_000382.3(ALDH3A2):c.699dup:p.Tyr234fs	coding	Pathogenic
17	19661129	AT	A	T19661133A	ALDH3A2	NM_000382.3(ALDH3A2):c.805del:p.Tyr269fs	coding	Pathogenic
17	19661146	TAA	T	A19661149G	ALDH3A2	NM_000382.3(ALDH3A2):c.821_822del:p.Lys274fs	coding	Pathogenic
17	19661149	AAG	A	A19661152T	ALDH3A2	NM_000382.3(ALDH3A2):c.824_825del:p.Glu275fs	coding	Pathogenic/Likely_pathogenic
17	19661229	GCT	CC	G19661229C	ALDH3A2	NM_000382.3(ALDH3A2):c.901_903delinsCC:p.Ala301fs	coding	Pathogenic/Likely_pathogenic
17	19663331	A	AGGGGCTAAAAGTACTGTT	C19663333G	ALDH3A2	NM_000382.3(ALDH3A2):c.941-1_941insGGGCTAAAAGTACTGTTG	noncoding	Pathogenic
17	19663369	AG	A	G19663371T	ALDH3A2	NM_000382.3(ALDH3A2):c.979del:p.Lys326_Val327insTer	coding	Pathogenic/Likely_pathogenic
17	19663475	TTATG	T	G19663479T	ALDH3A2	NM_000382.3(ALDH3A2):c.1087_1090del:p.Val363fs	coding	Pathogenic
17	19664947	GCTCA	G	C19664948T	ALDH3A2	NM_000382.3(ALDH3A2):c.1108_1111del:p.Leu370fs	noncoding	Pathogenic
17	19664975	TC	T	C19664977A	ALDH3A2	NM_000382.3(ALDH3A2):c.1137del:p.Ser380fs	coding	Pathogenic
17	19665024	ACT	A	C19665027T	ALDH3A2	NM_000382.3(ALDH3A2):c.1187_1188del:p.Ser396fs	coding	Pathogenic
17	19665173	CT	C	T19665177C	ALDH3A2	NM_000382.3(ALDH3A2):c.1207+130del	noncoding	Benign
17	19673386	GT	G	T19673396G	ALDH3A2	NM_000382.3(ALDH3A2):c.1443+1440del	noncoding	Benign
17	19675421	CT	C	T19675427G	ALDH3A2	NM_000382.3(ALDH3A2):c.1444-131del	noncoding	Benign
17	28357257	GT	G	T28357259C	TMEM199	NM_015584.5(POLDIP2):c.161+30del	noncoding	Benign
17	28357364	G	GC	T28357367C	TMEM199	NM_015584.5(POLDIP2):c.84dup:p.Pro29fs	coding	Benign
17	28357504	G	GGC	T28357508C	TMEM199	NM_015584.5(POLDIP2):c.-58_-57dup	noncoding	Benign
17	28359636	C	CG	C28359638G	TMEM199	NM_152464.3(TMEM199):c.375+233dup	noncoding	Benign
17	28360461	G	GC	A28360464C	TMEM199	NM_152464.3(TMEM199):c.376-66dup	noncoding	Benign
17	28360875	G	GC	T28360880C	TMEM199	NM_152464.3(TMEM199):c.531+32dup	noncoding	Benign
17	28400692	AGAGT	A	G28400697T	SLC46A1	NM_080669.6(SLC46A1):c.1236_1239del:p.Leu413fs	coding	Pathogenic
17	28404872	GA	G	A28404874G	SLC46A1	NM_080669.6(SLC46A1):c.824del:p.Phe275fs	coding	Pathogenic
17	28405107	AGGCTTGCCAGCATCCCAGCCACCCCGATGCT	A	G28405113C	SLC46A1	NM_080669.6(SLC46A1):c.559_589del:p.Ile188fs	coding	Pathogenic
17	28405252	T	TGCACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAG	G28405255A	SLC46A1	NM_080669.6(SLC46A1):c.444_445insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC:p.Ile149fs	coding	Pathogenic
17	28523792	TTCTCTCTCTCTCTCTC	T	T28523817A	FOXN1	NM_001369369.1(FOXN1):c.-14-163TC[12]	noncoding	Benign
17	28523792	TTCTCTCTC	T	T28523825A	FOXN1	NM_001369369.1(FOXN1):c.-14-163TC[16]	noncoding	Benign
17	28523792	T	TTCTCTC	A28523833T	FOXN1	NM_001369369.1(FOXN1):c.-14-163TC[23]	noncoding	Benign
17	28524830	AC	A	C28524834A	FOXN1	NM_001369369.1(FOXN1):c.455del:p.Pro152fs	coding	Pathogenic
17	28527346	G	GC	T28527353C	FOXN1	NM_001369369.1(FOXN1):c.690dup:p.Phe231fs	coding	Pathogenic
17	28529215	AT	A	T28529217C	FOXN1	NM_001369369.1(FOXN1):c.823del:p.Ser275fs	coding	Pathogenic
17	28534411	AG	A	G28534413A	FOXN1	NM_001369369.1(FOXN1):c.1010del:p.Gly337fs	coding	Pathogenic
17	28534886	CT	C	T28534887G	FOXN1	NM_001369369.1(FOXN1):c.1316del:p.Leu439fs	coding	Pathogenic
17	28534933	ATACT	A	A28534935G	FOXN1	NM_001369369.1(FOXN1):c.1364_1367del:p.Tyr455fs	coding	Pathogenic/Likely_pathogenic
17	28534940	CA	C	A28534941C	FOXN1	NM_001369369.1(FOXN1):c.1370del:p.His457fs	coding	Pathogenic
17	28535028	GCA	G	A28535030C	FOXN1	NM_001369369.1(FOXN1):c.1459_1460del:p.Thr487fs	coding	Pathogenic
17	28548119	TG	T	G28548123C	UNC119	NM_005148.4(UNC119):c.335-19del	noncoding	Benign
17	28556182	A	ACACCTCCATCACTCGCACCATGTC	G28556213C	PIGS	NM_033198.4(PIGS):c.1141_1164dup:p.Asp381_Val388dup	coding	Pathogenic
17	28734519	CA	C	A28734534T	NEK8	NM_178170.3(NEK8):c.254-238del	noncoding	Benign
17	28735264	T	TC	T28735269C	NEK8	NM_178170.3(NEK8):c.515dup:p.Pro172_Glu173insTer	coding	Pathogenic
17	28737728	GCTGC	G	C28737729A	NEK8	NM_178170.3(NEK8):c.882_885del:p.Cys295fs	coding	Pathogenic
17	28739139	CCT	C	T28739143A	NEK8	NM_178170.3(NEK8):c.1359_1360del:p.His454fs	coding	Pathogenic
17	28741517	T	TA	C28741519A	NEK8	NM_178170.3(NEK8):c.1997dup:p.Tyr666Ter	coding	Pathogenic
17	28856714	CT	C	T28856729G	ERAL1	NM_005702.4(ERAL1):c.489+147del	noncoding	Benign
17	28957548	AG	A	G28957553T	SEZ6	NM_178860.5(SEZ6):c.2303-10del	noncoding	Benign
17	29249894	CA	C	A29249895T	CRYBA1	NM_005208.5(CRYBA1):c.97-287del	noncoding	Benign
17	29451563	CAG	C	A29451566C	TAOK1	NM_020791.4(TAOK1):c.18_19del:p.Arg6fs	coding	Pathogenic
17	29517570	AG	A	G29517571A	TAOK1	NM_020791.4(TAOK1):c.1823del:p.Arg608fs	coding	Pathogenic
17	29530507	AGAGT	A	T29530511C	TAOK1	NM_020791.4(TAOK1):c.2253_2256del:p.Glu752fs	coding	Pathogenic
17	29534122	G	GC	T29534123C	TAOK1	NM_020791.4(TAOK1):c.2366_2367insC:p.Leu790fs	coding	Pathogenic
17	29542577	TG	T	G29542579C	TAOK1	NM_020791.4(TAOK1):c.2563del:p.Ala855fs	coding	Pathogenic
17	30185267	A	AG	A30185270G	NSRP1	NM_032141.4(NSRP1):c.1272dup:p.Lys425fs	coding	Pathogenic
17	30185353	CAGAA	C	A30185356G	NSRP1	NM_032141.4(NSRP1):c.1359_1362del:p.Glu455fs	coding	Pathogenic
17	30987766	TACAGCAA	T	C30987768T	RNF135	NM_032322.4(RNF135):c.517-176_517-170del	noncoding	Benign
17	31095306	GGACAT	G	A31095308G	NF1	NM_001042492.3(NF1):c.-2_3del:p.Met1fs	noncoding	Pathogenic
17	31095313	GC	G	C31095315G	NF1	NM_001042492.3(NF1):c.6del:p.Ala3fs	coding	Pathogenic
17	31095317	CG	C	G31095318C	NF1	NM_001042492.3(NF1):c.9del:p.His4fs	coding	Pathogenic
17	31095322	AG	A	G31095324C	NF1	NM_001042492.3(NF1):c.15del:p.Arg5fs	coding	Pathogenic
17	31095328	GTGGA	G	T31095329A	NF1	NM_001042492.3(NF1):c.20_23del:p.Val7fs	coding	Pathogenic
17	31095331	G	GAT	A31095333T	NF1	NM_001042492.3(NF1):c.23_24insTA:p.Glu8fs	coding	Pathogenic
17	31095334	TGGGTCCA	T	G31095337C	NF1	NM_001042492.3(NF1):c.28_34del:p.Val10fs	coding	Pathogenic
17	31095368	AG	A	G31095370T	NF1	NM_001042492.3(NF1):c.60+1del	coding	Pathogenic
17	31148394	C	CT	C31148411T	NF1	NM_001042492.3(NF1):c.61-7573dup	noncoding	Benign
17	31155970	C	CT	C31155980T	NF1	NM_001042492.3(NF1):c.61-4dup	noncoding	Benign/Likely_benign
17	31155989	A	AT	A31155991T	NF1	NM_001042492.3(NF1):c.68dup:p.Thr25fs	coding	Pathogenic/Likely_pathogenic
17	31155990	T	TAA	C31155996A	NF1	NM_001042492.3(NF1):c.72_73dup:p.Thr25fs	coding	Pathogenic
17	31155997	A	AG	A31156000G	NF1	NM_001042492.3(NF1):c.77dup:p.Gln27fs	coding	Pathogenic
17	31155997	AG	A	G31155999A	NF1	NM_001042492.3(NF1):c.77del:p.Gly26fs	coding	Pathogenic
17	31156007	A	AAC	T31156015C	NF1	NM_001042492.3(NF1):c.91_92dup:p.Thr32fs	coding	Pathogenic
17	31156009	CA	C	A31156010C	NF1	NM_001042492.3(NF1):c.88del:p.Thr30fs	coding	Pathogenic
17	31156015	T	TA	C31156017A	NF1	NM_001042492.3(NF1):c.94dup:p.Thr32fs	coding	Pathogenic
17	31156045	A	ATGTCTAGGGAATACATTATTATGTAAACTTAATTTTAAAAGACAGGAGAAAATCTGTTTTCTGCTGACCAAAGAAGTGACTTATTGATACAAAAGGAACACTAAAGTACAAAAATACCCACTGTCAATAATATGATACAGAGTTAGCAAACCATATACATGATCTCCATGTGGTTATGAATGTAATAGTTGTAAGTGGGTGAGTATTAATACACATTATTTTACGGTTGCAAGTTCACTAGGATCAATTAATCTAATGCAATGGTCAACAATATGACTTCATATGTTAATTGCCTGGGTTTACTATGGGATGATACTGCCAGAAAAGGCTTATGAGACAAGAAAATTACTTCGTGGGATAGCATTTGGTAACTTCCACTGAGAAGTAGAAATTATCTGATTTGTTAGCAAAGAAGGCTAGTGACAACGTACCTCCTGTCGGGCTGGTGCTGCATGTGGCCAGTCTCCTCTGGACAATCCTGTAACATGGGCTGGAGTTCTTCCTGTGGGGAGGGAGTCAGAGTGGCAGTGGACTGATGGCTATAGGACACGGCAGCTGGAGAAGAAGC	A31156052G	NF1	NM_001042492.3(NF1):c.129_130insGGGAATACATTATTATGTAAACTTAATTTTAAAAGACAGGAGAAAATCTGTTTTCTGCTGACCAAAGAAGTGACTTATTGATACAAAAGGAACACTAAAGTACAAAAATACCCACTGTCAATAATATGATACAGAGTTAGCAAACCATATACATGATCTCCATGTGGTTATGAATGTAATAGTTGTAAGTGGGTGAGTATTAATACACATTATTTTACGGTTGCAAGTTCACTAGGATCAATTAATCTAATGCAATGGTCAACAATATGACTTCATATGTTAATTGCCTGGGTTTACTATGGGATGATACTGCCAGAAAAGGCTTATGAGACAAGAAAATTACTTCGTGGGATAGCATTTGGTAACTTCCACTGAGAAGTAGAAATTATCTGATTTGTTAGCAAAGAAGGCTAGTGACAACGTACCTCCTGTCGGGCTGGTGCTGCATGTGGCCAGTCTCCTCTGGACAATCCTGTAACATGGGCTGGAGTTCTTCCTGTGGGGAGGGAGTCAGAGTGGCAGTGGACTGATGGCTATAGGACACGGCAGCTGGAGAAGAAGCTGTCTA:p.Ile44delinsGlyAsnThrLeuLeuCysLysLeuAsnPheLysArgGlnGluLysIleCysPheLeuLeuThrLysGluValThrTyrTer	coding	Pathogenic
17	31156067	T	TA	C31156069A	NF1	NM_001042492.3(NF1):c.146dup:p.Tyr49Ter	coding	Pathogenic
17	31156080	TG	T	G31156082T	NF1	NM_001042492.3(NF1):c.160del:p.Val54fs	coding	Pathogenic
17	31156082	GT	G	T31156084A	NF1	NM_001042492.3(NF1):c.162del:p.Val54_Ile55insTer	coding	Pathogenic
17	31156086	TA	T	A31156088G	NF1	NM_001042492.3(NF1):c.166del:p.Ser56fs	coding	Pathogenic
17	31156092	GC	G	C31156094T	NF1	NM_001042492.3(NF1):c.172del:p.Leu58fs	coding	Pathogenic
17	31156103	AT	A	T31156107A	NF1	NM_001042492.3(NF1):c.185del:p.Ile61_Leu62insTer	coding	Pathogenic
17	31156107	TAA	T	A31156109G	NF1	NM_001042492.3(NF1):c.187_188del:p.Lys63fs	coding	Pathogenic
17	31156107	TA	T	A31156110G	NF1	NM_001042492.3(NF1):c.188del:p.Lys63fs	coding	Pathogenic/Likely_pathogenic
17	31156114	T	TTAA	G31156115T	NF1	NM_001042492.3(NF1):c.192_193insTAA:p.Val65Ter	coding	Pathogenic
17	31156117	T	TAAAGAATGTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	C31156120A	NF1	NM_001042492.3(NF1):c.197_198insAGAATGTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA:p.Asn66delinsLysGluCysTer	coding	Pathogenic
17	31156119	A	AC	A31156121C	NF1	NM_001042492.3(NF1):c.198dup:p.Asn67fs	coding	Pathogenic
17	31158998	CT	C	T31159002C	NF1	NM_001042492.3(NF1):c.205-8del	noncoding	Benign
17	31159036	AAATT	A	A31159037T	NF1	NM_001042492.3(NF1):c.232_235del:p.Asn78fs	coding	Pathogenic
17	31159038	AT	A	T31159041A	NF1	NM_001042492.3(NF1):c.236del:p.Leu79fs	coding	Pathogenic
17	31159040	TTA	T	A31159044C	NF1	NM_001042492.3(NF1):c.239_240del:p.Tyr80fs	coding	Pathogenic
17	31159041	TA	T	A31159042T	NF1	NM_001042492.3(NF1):c.237del:p.Leu79fs	coding	Pathogenic
17	31159042	ATATC	A	A31159044C	NF1	NM_001042492.3(NF1):c.239_242del:p.Tyr80fs	coding	Pathogenic
17	31159048	CT	C	T31159049C	NF1	NM_001042492.3(NF1):c.244del:p.Ser82fs	coding	Pathogenic
17	31159051	TCA	G	T31159051G	NF1	NM_001042492.3(NF1):c.246_248delinsG:p.Gln83fs	coding	Pathogenic
17	31159056	TG	T	G31159057A	NF1	NM_001042492.3(NF1):c.252del:p.Ile85fs	coding	Pathogenic
17	31159076	GA	G	A31159081T	NF1	NM_001042492.3(NF1):c.276del:p.Lys92fs	coding	Pathogenic
17	31159088	G	GC	T31159090C	NF1	NM_001042492.3(NF1):c.284dup:p.Gly96fs	coding	Pathogenic
17	31159092	GGGT	G	G31159093A	NF1	NM_001042492.3(NF1):c.288_288+2del	coding	Pathogenic
17	31163212	TG	T	G31163213A	NF1	NM_001042492.3(NF1):c.316del:p.Glu106fs	coding	Pathogenic
17	31163227	C	CAA	C31163231A	NF1	NM_001042492.3(NF1):c.332_333dup:p.Gln112fs	coding	Pathogenic
17	31163227	C	CA	C31163231A	NF1	NM_001042492.3(NF1):c.333dup:p.Gln112fs	coding	Pathogenic
17	31163235	T	TG	C31163237G	NF1	NM_001042492.3(NF1):c.339dup:p.Leu114fs	coding	Pathogenic
17	31163246	A	AT	C31163248T	NF1	NM_001042492.3(NF1):c.350dup:p.Cys118fs	coding	Pathogenic
17	31163253	AT	A	T31163257C	NF1	NM_001042492.3(NF1):c.360del:p.Leu121fs	coding	Pathogenic
17	31163262	AC	A	C31163263A	NF1	NM_001042492.3(NF1):c.366del:p.His122fs	coding	Pathogenic
17	31163268	GT	G	T31163269C	NF1	NM_001042492.3(NF1):c.372del:p.Arg125fs	coding	Pathogenic
17	31163270	CGT	C	T31163272A	NF1	NM_001042492.3(NF1):c.375_376del:p.Glu126fs	coding	Pathogenic
17	31163271	GT	G	T31163272G	NF1	NM_001042492.3(NF1):c.375del:p.Glu126fs	coding	Pathogenic
17	31163277	G	GT	A31163278T	NF1	NM_001042492.3(NF1):c.380_381insT:p.Asn128fs	coding	Pathogenic
17	31163285	CA	C	A31163286T	NF1	NM_001042492.3(NF1):c.389del:p.His130fs	coding	Pathogenic
17	31163292	CT	C	T31163293G	NF1	NM_001042492.3(NF1):c.396del:p.Glu133fs	coding	Pathogenic
17	31163299	TCGGAA	T	C31163300T	NF1	NM_001042492.3(NF1):c.403_407del:p.Arg135fs	coding	Pathogenic
17	31163302	GA	G	A31163304T	NF1	NM_001042492.3(NF1):c.407del:p.Asn136fs	coding	Pathogenic
17	31163313	CTG	C	T31163314G	NF1	NM_001042492.3(NF1):c.417_418del:p.Val141fs	coding	Pathogenic
17	31163326	TTC	T	T31163331A	NF1	NM_001042492.3(NF1):c.434_435del:p.Leu145fs	coding	Pathogenic
17	31163338	CA	C	A31163340C	NF1	NM_001042492.3(NF1):c.443del:p.Asn148fs	coding	Pathogenic
17	31163344	C	CT	C31163347T	NF1	NM_001042492.3(NF1):c.449dup:p.Asn151fs	coding	Pathogenic
17	31163350	T	TG	C31163352G	NF1	NM_001042492.3(NF1):c.454dup:p.Ala152fs	coding	Pathogenic
17	31163358	T	TA	T31163359A	NF1	NM_001042492.3(NF1):c.461_462insA:p.Phe154fs	coding	Pathogenic
17	31163374	CA	C	A31163375G	NF1	NM_001042492.3(NF1):c.478del:p.Arg160fs	coding	Pathogenic
17	31166901	CTTAACTCTCTGGTTTTCAGTTTTCTTCTTCTTTTCTGGACCTATACATTTAAAATATCTTTCAGTATGCCTAGACTTTCTAGCTGTTTTAGTGATAGGTTTTCTACTGTTCATTTCTTTTGCTCAGACTACGCTTTATTTGATTTCTCTGCTTCGGAAATGATGTTTAACCTTCACAAAATACCTGCTCTCTATAAGGGTACCAGACTATAAAAGGGACAAAATTTTTCTCCCATTTTTCACAAACAACCACAAGAGTCAACTTTTCAGAAGTTGGTATTGCTGATCTATGATGTTGTGTTTTCTGAGGAGCCGTACTCCATATTTCTACGCTCTTTGCAGCAGCTGTGGAATTTTTAGCATTGAGGACAACCTCATTCCCAGCTTGAAATGCTGAGCTTTTCTTACCCTGATGATAGGAAGAGAGTTCATGTAAGTGCTTAGAATAGTTGTACTGTTAGCTGTAGTCTAATTAAAGCTAAAGTGAGTGAAACGAGAATTTGAGAAGGAAGAATAGGATTGATTACATTCTTATCAACTGAAGGTTTAGTGTGATGATTAATAACTCCTTTGCAAATTGCACTAAATGATTGAAATTCAAGTTAATACATATAAATTATAAGACCATATAGTATTTGTGCCTTTTCACCATATCTCTATTGCTGCATTTATAAAAGTTTACAATTTAATTGTGCTGCTTATATTTTTTATGTCTATTAATATGAATAATGAGTATGCCTCATTAGGTAGCATGATTTAATAGATTAGCAATACCAACTTTTGAAAATCTGAGTGCTGTGGTTGTTGGTGTAAAATGGAAGAAAAGTTTAATGCCTTTTATTAACATTTAGGCTAAGTGAATTTCTTTTATCAGTTTAAAAATATCTACATATTTGTTAAGTGTTAAATGTTTCTACGTTTGTGATAACTTCATATTCAACATAGGAGAAGCTGGGGTTTAAACAGATATTCCTGTCCTTATAAGCTTATGTTCTGTGAAGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACTGTTTCTGGCATGCTATGGTTTCTCTTCTTCCCTTTTCAGTAATTTAAAGCAAACCCCAGACATCATTTCACCTGTAAATATTTCAGTATATATCTCTAATAAATAGATTTTTAAGCATTTAACTATAATATTGTCATACCTATCAAGAATCATAATTCCTTAATATCATGCATTGCCAAATTTGTGGGTTTTTTCATTATCTCAGAAATGGCTTTTTTGTTTTGTTCAAATTAAGATACAAATAGGATGCGTACTTTGGAATTGGTTGATATTTCTCCTGAGCCTCTGTTAATCAGTATCATTTCTTCATTTCTTCACCTTGCTCTCCATTTTTTCCCATGCTGTTTATTTGTTGGACTGCGTTATTTGCCTTTCTACATTCTGTATTTGGGTTTCATTGGATTCACGTTCATTTGGCTGGGGGGGGACAAGAATACTTTACTGATGATGCTATGTGGTTCCTAATGAATCACATCAGGAAACATGTCCTATTATTGACTTTTAATGTTATGATCAGTGATTGGATTTCGATGTTATCAGCATTATGTATTCATTATACAGTTTCCCATAAATTTTTCCTAATGTTTTTAGTAATCACTGATGATCACTGCCTGGATTCCACTTCATTGGGGGCTGCAAAATGAAACGTTTTCTATTCTGTCATTCATTCTTTATTTTAAAATTGTGACTTCTATGAAAGATTTTTGCTTCATTGTGTGTTTAGTTATCTTGCAATACAGTCCATGTAGGGAATGCAGGATACAGACTTGACTTCCATTATTCGTTATCAGAATGAGTTGGTACCCTAACAGTTGCGAAAGGTTACCCATGAAGTTTTTTCTTTCAATATTATAACAGGCTTGTGTGTTTTAATTTATTGTATGTGTTTCCATTGTAGACATAATTCTTTTGATCCTCAGATTATCCCATTTTTGACAGTTGAGATGCCTAAAGTGCATACCTGTGTGATATTTGACATGGTTCTGATAGTTGTTGATAGTTTCCTGTTTTCAAGCCCAAGGTGACCTGCCCTCACCTTGTATATCTCTTGCCCCCATCCTGGAATTAACTAATTTTCCCAAAGAACCCTGGCCGAAAGTCGGCAATATTTAGACACCTCAATCTTAAGGATAAGGATGCTACGATGCTACGTTTACTGAATTATCATGGTTTCTTTTATCATATCCCTTGTTTGTTATGTTCCTTTAGGTTTTTATAAGAAATATTTATTGCCTTATTTTTATATATGTCTTTACTCTTATGAACTCATCTTTGGGGGAAGAATCTGTTGAATTCAGAATTTAGGGATACCCGAAGACTTTTTTTGTTTTTGTTTTTTTTAAGAGATAGGGCCCACTCTGTTACTCAGGCTGAAGTACAGTGGTGTGATCACAGCTCATTGCAGCTTCAAACTTCTAGGCTCAAGAGATCCTCCTCCCTTAGCCTCCTGAGTAGCTGGGCCTATAGGTGTGTGCCATCATGCCCAGCTAATTTTTGTATTTTTTTTAGAGATGATGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGGTCCTCCTGCCTTGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGATACCACACCTGTCCCCTAATACTTAATTTGATAAGTTAATTTTGGTTTTTACTTTTTAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATGTTGATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGGTAAGTTTAAATGTATAATATATCTGAAAAAAATCACTGGGTCAAAAACTAGTATCATGAATGTACTAATTATATTAATTGTGCTGAACTAGAACACCAAACTGGATTTTATAATGACATTTCCTTGTGAAATAACCAGTAATACAAATGGGTAATTATTTTTCAATCTTTGAAAATAATGCAGTAGAGAAAATGAGCATTTTAAATCTTGGCAATGGAAAGTTTTGCTTAACTACAATTTTTGTTTTCAATACAGAGAATGCAAGGGTGCTATTATTTCATTTTTCTGGAATTTGATCTCTCAAGGGTGGCTATAGGTTATAGAAGCTATCTGTTTAGCTATTGTAGCACTTTACAAAGATTGTCTGTAGTAGGATATCAAAGTTTTATTGCAGAATGGAACGAGGAGATTGTGATGTTATGGTGAGAGGATGAATTGAGCCAGAGATTTCATTTCTGACATTTCTGTTTTCAGCTCTCTACTGACTGACTTTATAGCATTACAAAGTCCCTTAACCTTCCATTGCCGGTTTTGTCTCCTTGTAGAACATGTCAGTAGTAGTTCCACATGGGGATATTATAACACCTAATATGTGACTTTAAAGCTTGGGAAGTACTTTACATGATTATGTGGATTGAAATAAACGATCAGAAGGAATTGAGATATGTTCTGTAGTAAGCAGTGATGTGTTAATGTAAATCAGATACCAATGAGTATTCATAAACTGAGTATGATCTGAAGGAATTGAGATAAATTCTGTGGTAAGCAGTGATGTATTCATGTAAATCAGATATCAATGAATATTCATAAACTGAGTATGAATATCTAAATTTCATTTTACAAAAAAATGTTTTTTAGTTTTTGGCATTATTAGACCCTGGCTAATTTAGATATGAAACCGTATACAGTTCACACATATTTTTATTTGTAACTTAAGGAATTGTCAAACAATAATATTTTTAATATCTGACCTAAAACAGATTGAATTATATTAGCTTCAGAAACATCAGTTCTGCAATGTAGTTTTCAAAATACGTGTTTTTGTTTTCTTAATATTTCCTTTAAACTCAATAACTATCTCACCAGAGATGTAAAAAGGCAATACCTATATAAAGGAATAATATAAAGCTGTGTTCTATTCATATTACCCTTGTTCATAATTTATGATTTTAGGTCATTACCATTGTGAAACCAAGCAACAATTAATTCAGTAACTTTAATAAAGGAAAATATAGGGGTGATTTTAGCTGTTATGCCAAGATACAAACATGTGGACAGCAATTATTTTAGATTATAATAAACCACCATTGAATTAATAGTTGAGATTTGCAAGATTTTGATATCTATTATTAAGCGTTGAGCAGTTGAGAAACTGAATGGTAAAATTTAGAGATCTCTATGAATTAAAGTTAAGAAGTATTAGTGGGATTTTATGATTTTTCATAACTATTCAGTGATGTTTTGGAAACAAGTCTAGTCCAGGTTGCCTGTGAATAGCTGTTTAAAACAATAGAAATGTTCAATCCGTAATAATTAACTGAAATGTCTCTTCTGTCCAAATAAGAGAAACTAATTGAATGTGTGGATAAATGACTTTCTTTTATACTGAAGTAACTTTCCCATCGAATGCGGCTCCCTCATGAACATAAATTTAGAGTATATGCTGATAAATATATAAAGTATAAAACCGATATTAAATAGGCCAGCAAAATATGGCTCTTGGTGACAGTGGTAAAAGGAATGCACCCTTTCAGTAATGAGTAGTAAAGGTAGTAATGTGTTTTAAATACAACTCAACAAGCCTTTGTTGAGAAACTATGTATAAGAAGCCATGCTAAGTGCTGGGATTACAAAAATTAATAAAATATGGAATCTGTCCCTAAGGAGCTCATGGCATGGTTTATGAGACAAGTGATGTCATTATCAAGTTATTTGCAGAAAAAAACTATGATAAACTCAAATAGGGTGAGTGTAAAGTGAGAGAGGAAGTATATATTTGTTTGAGGGGATGAGAGATGAGCAAGATGTGAAGGTACAAGAATAGGTCAGATCATTTTAATAAAAATATGGCCAGGCCTGGTGGCTCACACATGTAATCCCCACACTTTGGGGAAGCCGAGGCAGGAGGATTGCTTGAGCCAGGGCAACATAGAGAGACCCCCATATATACAAAAAAAAATTAGCTGGGTGTGCTGACACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAAGAGGTTGAGGTTGCAGTAAGCTGTGATTGTGCCACTGCATTCCAGCCTGGGTAACAGAGTGAGATCCTGTCTCTGTCTGTCTCTCTGTCTCTCTGTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCGATATACCTATCTGTATATAGATATATCAATCGATATGTGTATATCCAGATCTGTCTATAGATATATCTGTATCTTGATAGATATATCGAGAGAGAGAGAGAAACATTTGTTATATTTTCAGTCTGCACCGGGCCTTGCGCTATGCAGTTTGCATGCCTTTTCTCATCAATTCTTACAATAACCCTGTGACGCAATACTAGTATTAATATTATCATCTCTTGTGTAGATGAGGAAACTGAGGCCTCAGTAAATTTTCAAAGTCACAGAGCTAGTAATTGTTCAGTAAAGATTGAGTTCACATCTGCTCGTCTCTAGAACCTAGATACTTGACTGCTGCACTGTTGTGCTTATGAGTTACGAAGCTTTATTTTAGTGGCCCTGGGAAGTGATAGAAAGGCTTTGAGGTAGAGAATACCTTAATCAGTATTTTATTTTAGATATACCCCTTTGCTTGAAATTTGCAGGATGGCTTGGTAGAGGGTTACCTGAACTTCTGGGACTTGGTTATGCAGTAATATAAGTGAAAAATAATGAGAGTTGTGGAGATCCAGATGATGGATTGGGGTAGGGTAAGGATGGGGACCAGTTTGATAGGTATTTAAAGAAGTGGAGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTTAGGCTAAGGTGGGCGGATCACTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACTCCGTCTCCATTAAAAATACAAAAAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGACCATCCTGGCTAACACGGTGAAACACTGTCTCTACTAGAAATACAAAAAATTAGCCAGTCGTAGTGGTGGGCGCCTGTAGTCCCAGCTTCTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGATACTCCGTCTCTAAATAAATAAATAAAATAAAATAAAAATACAA	C	T31166902A	NF1	NM_001042492.3(NF1):c.480-2989_586+3445del	noncoding	Pathogenic
17	31169883	C	CT	A31169889T	NF1	NM_001042492.3(NF1):c.480-3dup	noncoding	Benign
17	31169901	TTAAC	T	A31169903G	NF1	NM_001042492.3(NF1):c.492_495del:p.Thr165fs	coding	Pathogenic
17	31169923	AT	A	T31169924G	NF1	NM_001042492.3(NF1):c.513del:p.Asn171fs	coding	Pathogenic
17	31169930	TG	T	G31169931T	NF1	NM_001042492.3(NF1):c.520del:p.Val174fs	coding	Pathogenic
17	31169954	GTATATCA	G	T31169955A	NF1	NM_001042492.3(NF1):c.544_550del:p.Tyr182fs	coding	Pathogenic
17	31169956	A	AT	A31169958T	NF1	NM_001042492.3(NF1):c.546dup:p.Ile183fs	coding	Pathogenic
17	31181423	AAC	A	C31181425G	NF1	NM_001042492.3(NF1):c.590_591del:p.Thr197fs	coding	Pathogenic
17	31181438	TA	T	A31181441G	NF1	NM_001042492.3(NF1):c.606del:p.Ala203fs	coding	Pathogenic
17	31181445	CT	C	T31181446A	NF1	NM_001042492.3(NF1):c.611del:p.Leu204fs	coding	Pathogenic
17	31181446	TA	T	A31181449G	NF1	NM_001042492.3(NF1):c.614del:p.Lys205fs	coding	Pathogenic
17	31181446	T	TAAAGAAGGTTGCGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T31181463G	NF1	NM_001042492.3(NF1):c.627_628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGGTTGCGCAG:p.Leu210delinsAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
17	31181482	TG	T	G31181484A	NF1	NM_001042492.3(NF1):c.649del:p.Glu217fs	coding	Pathogenic
17	31181712	AT	A	T31181716G	NF1	NM_001042492.3(NF1):c.661del:p.Trp221fs	coding	Pathogenic
17	31181716	T	TGG	A31181719G	NF1	NM_001042492.3(NF1):c.662_663dup:p.Asn222fs	coding	Pathogenic
17	31181745	AT	A	T31181748A	NF1	NM_001042492.3(NF1):c.693del:p.Phe231fs	coding	Pathogenic
17	31182507	G	GA	T31182510A	NF1	NM_001042492.3(NF1):c.732dup:p.Cys245fs	noncoding	Pathogenic
17	31182530	CT	C	T31182532G	NF1	NM_001042492.3(NF1):c.755del:p.Leu252fs	coding	Pathogenic
17	31182532	T	TG	T31182535G	NF1	NM_001042492.3(NF1):c.757dup:p.Val253fs	coding	Pathogenic
17	31182552	AG	A	G31182553C	NF1	NM_001042492.3(NF1):c.776del:p.Ser259fs	coding	Pathogenic
17	31182561	CG	C	G31182562T	NF1	NM_001042492.3(NF1):c.785del:p.Arg262fs	coding	Pathogenic
17	31182563	T	TA	G31182567A	NF1	NM_001042492.3(NF1):c.789dup:p.Ala264fs	coding	Pathogenic
17	31182585	C	CAA	T31182589A	NF1	NM_001042492.3(NF1):c.810_811dup:p.Ile271fs	coding	Pathogenic
17	31182594	CT	C	T31182595C	NF1	NM_001042492.3(NF1):c.818del:p.Leu273fs	coding	Pathogenic
17	31182596	CCTTAT	C	A31182600G	NF1	NM_001042492.3(NF1):c.823_827del:p.Ile275fs	coding	Pathogenic
17	31182602	CT	C	T31182604G	NF1	NM_001042492.3(NF1):c.827del:p.Leu276fs	coding	Pathogenic
17	31182620	CC	TT	C31182620T	NF1	NM_001042492.3(NF1):c.843_844delinsTT:p.Gln282Ter	coding	Pathogenic
17	31182630	TC	T	C31182632A	NF1	NM_001042492.3(NF1):c.855del:p.Asp287fs	coding	Pathogenic
17	31182676	CA	C	A31182680T	NF1	NM_001042492.3(NF1):c.888+15del	noncoding	Benign
17	31199527	AGAATATATTGTGCTGGTGTTGGGTGAGTTTAGTTTTTGACATGTTACATTTGAGCATTCATTTAGGAGAAAAGCCAAAGGAAGACATTTGTTAATGAACTGTAAAGAGGGGTTGACATCACAAGAATAGGTAATTTTTTTTGAGAAACAAATTTAGAGCAACAGAACAGCCTTGAATATATTCTTATTTAGAAGGCTGAAGGTTGAATATAACCTGGAGTGTTAGAAAAGGGTGGAACAGTTTATCATAGACCAGAGCCAAGAAAGTATAATATTTAGACTTTAAATATCAAAAAGAAGATATGGTCAGCTGAATTCAAAGTTGAAGGCTAGGTGTGGTGGCTCATGCCTGTAATTCTAGCACTTTGGGAGGCTGAGGCAGAAGGATCACTTGAGCCCAGGGGTTCAAGACCAGCTTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAAACCCAGCTACTCTGGAGGCTGAGGCGGGAGAATCGCTTGACCCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCTTTGTACTCCAGCCTGGGCAACAGAGGAAGACACCATCTTGGGAAAAAAAAAAAAAAGAAGTTCAGAAAACAGCTTGTTTGGGAAGGACTGTTTTTTGTATTCCTTTAATAATTCAATAAAGAAAATAGAAAAAGGATTTTTTTTAAATTTGAGAAACATTTAAATGATGACCACTACTTAAATTATGAAATTGAAAACCACAAATATAAATTATGCATTCTTTATAGTATGAGTTTTAGAGGCTGTTAATTTGCTATAATATTAGCTACATCTGGAATAGAAGAAACTTCATATATTATCTTATCGCTATATTTGAATTCTGTAGAAGTTATTTCTGGACAGTCTACGAAAAGCTCTTGCTGGCCATGGAGGAAGTAGGCAGCTGACAGAAAGTGCTGCAATTGCCTGTGTCAAACTGTGTAAAGCAAGTACTTACATCAATTGGGAAGATAACTCTGTCATTTTCCTACTTGTTCAGTCCATGGTGGTTGATCTTAAGGTAACATGCTTATTCTTTCTCTACTACAAACTTTAAGAAAATTAAATGAATTTTCTAGCATAAGTATTATGTCAAAGATAATTGCTAACATTAAAGTTCTGACTCTTCGTTGATAAGTTCATAGGACTTGCTTTTGTTGTTACTGTGTTCATCAGCCTAAATGGACTGAGAATATGAAGAAAACACCATTTTCTTAAATAAGCATAAATATACAGACTTGGGTTTAAAATAATGTGGCAATTAGGGCCTGAAATGAACCTATATATGGTATAGGAAGAATTGTATCAGACTGATGAACCACAGTATGGGTGCTTTGTGCTTCTTCTGGCAGCTGGATTTTACTGCCATTTGTGTGGGTAATGTGTTGATGTTATTACATGTTAGTAAAGAAATACTGCATGGGTATTTAAAGGCTTTTGTTTTCTGTTGGGGTTTTTATAGAACCTGCTTTTTAATCCAAGTAAGCCATTCTCAAGAGGCAGTCAGCCTGCAGATGTGGATCTAATGATTGACTGCCTTGTTTCTTGCTTTCGTATAAGCCCTCACAACAACCAACACTTTAAGGTGAGAGCATTGGTTTTTATCTAACTATATTTACTGATGCTGTTATCCTTTATAAACAAAAAGACTATAGAGATTAATAGGTTCACTTTTATCGGTATTTCTCACTATTATGTATTGATGTTCGTTTCAAGACCTTAAAAACTTAGTGTTTTTTTTTTAAACTTTCTATTTGCTGTTCTTTTTGGCTTCATTTGTATTACTGAGTATTTTTCTCATAGAAATAATCTGCTTTTTTTTTTCTTTTTCTATAGATCTGCCTGGCTCAGAATTCACCTTCTACATTTCACTATGTGCTGGTAAATTCACTCCATCGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTAAATTACTAAAAAAATTTTTTTCTTTCTTTTCTTTGCGTATTTCTTTTTAAGAAATGCACTCTTGGTTTTCAAAAAGGTTCTGAATTTAGATGTATGAAATAGGAAAATTTCTCCATGGTGATTCTATTTGATAATTGATAAATATTTGTATTTTTCATATTAAGTCTTGACCGAAGGGACCATATTAAGGAAGATGGAGTTAATAAGATGCTTTGGAAAGATTAAATCTAAAACGTTTTATTCAGATCAGAAGCCCTTGAGAAAAATGTCACTGAAAATACAGTTTAAAATTTTCATCCCGAAGCTTTTCAAACATATTATTTCAGCATTTGATACATTGACTTGCCACCTTACCATTTAAGTTAAAAGTAATAGTATTTATGTTGTAGTCTAGTATAGCACATTGACAAAATGATGGGACTATATTTGATGGTACTTTTAAATCTTTTGATCCTAAATTCATTCATAGTGTAAAATTTCATTTTTCTTAAACAAAATGAAATATTAACATACTTTAAAGTAGGTATTAACAAGATACAAAAGCATATCAGACAAAGTAAGTGAAATCATTAAAAGGTACTTGCGAAACCTTCAACTCTGTCTGATGTGGAGACATTAAATAGACAGCAAAACTATCAGATTTGGACTGTGGATTTTTAAAATTCTGTTCTTGTAATAATGAACAACCCTATTTTGAAAGTTTTCAAGTGTTATTTTCCATTGTTCCACTTTTATCAAATGATACTCACATTTATGGGTAAATTGGTTGATGCTTTCCTTCCTTAAAGGAGGCTGTAATCATTGATAACTTAGTATATTTGACCTGTTTATAATCAAATTCCATTTTAAGACTGTGCCTCTGGTGAGTTGAAAATAACCCTTCACCTCATTTGCCCTGGATGTTGTATTTATTTAAAATAAATACTGCCCATATTCTATCCATTCCTGCAGTGGAAAATTAACTATTGATAAAGCTATTTGGTGATACATTTAATTTTTCTCAGCAGGTGTTTAGTGAGCATTTTGGGAGGACAGTCCTTTGTTGTGCAGGATGCCTTGGGCATTGCAGGACCTTTAAGATCGTCTGGCCTCATTTCATTAAATGCCAGTTGTGCTGCATCTCCCCATCCCTAGTCATTATGAACAAATAAACATGCCTGAGGGAATGATACCTCCTCCCTTAGTTGAGTATCACTGAGTTAAATTGTAGGTAAAAGTAACATTGAATATGCTTTGTTCCAAAAGGGAAAGTTTAATGAAGATTGTAAATAAGGTATGTTTGTATTAAAAACTTAAAAAAAATCACTGTACTTTTGTCAGCGTAATGAGCCAGGGCATTGTACCTTCAAGGTTTACTTTCAAGGCCATTAAAACAAAAAGATGATTTCTCCCCTCAAGTTTATGTGTAACTCAGAAATAAGTCATTATTGCTTTTTTCCGCTGTGGCTCAGAACACTAAAAATATTCAAAGAGTGGATAGCTTTGCATAAATGCTTAAAATTTGTATACAATAAACCCAAATATATACTTTTTTGATACTTTGTGGCTAGTTACTTTAATTGTGAAATATTTTTGTCTACAACTGACTACATAGAGCACTTTCAAGCATGGACTTGGCACTGCTGTAAGTGGCTGAGCTGCTCCTTTCTGGGTTCCAAGCATGCCTGGAGTGGTGCTTCATGCATGCCTCAGTGTACTTGGTGAAAGTGGCTGTGCATCCTCTTCTACTCTAATGAGCACTGCATGTGTGGAGGGTGGAGTGTGTCTGTATCAGAGATCAAGTTATATGAAAATCTGTTTTTATAAAGAAAAAAACTACATTGAATAATTTTTAAACATTAAGTATCAGTAACTTTTCAATGAAATAGCTTGAAAAGGAACATAAATATTAGTTCAAAGTATCTTTTTAAATTATGCTTTGGGTAGTGATACTTTATTATTATAGATAGTGTGGGAAATTGTTTCTCGTTAGGATATTTTCCCCCTTGGTTTGAGGCTAATCGCTATTGAATCTGAAGTACTCTTTTGGTTGAAAAGGACTATTTATAAAGTGAATATAGAAATTTATGAGATTGACTATTTTAGAGTTTCATTTGAAGACATTTATTATGGCAATATTTTTGTCTTGAAAAATCACATGAAATTATTCTTAGATATTTGGACTTCTGATCTTAAATTCATTCGTAGTGTAAATTTTTTTTCTAATGATTCTTGGTTCAATGTACCTCATAAGTTCTCTTCTCCCATGGTTCTTTAGCCAGTCCACACATTTTTTTTAAAGCATCACATTCTCAAATAAGATAAAAGTTTTAGTGATGTGTATTGAGGGTTTGTGTAGAAGTAGTAAGGTGTTTGGAGTTCTACTTTTGTGAAACATACTCATACTCAGTTCATAAGTACTGAGTTTAGATCTAAAATATTCTAGTGTTTCTTCTTAGAAAATCTAAAATATATCCACTATTTGATTCTTATTATAATGCAGGTTCCTAGCAGTTACTAAAATAGTAGTTGTACTGTCATCTTTTTTATTATGATGTGCCATAAGAGATGAATTAATAGTTGTAAGATCTATGTTATATGCATAATCTTCATAGACTTCCTTTAGGTTAAATTAGATATGTAATTGGGAAATTTAAAAAGTAATATACACACTTATGAACCAATTATCTTAGCCATCACTGGTACATGCTATAGCTGGTATATTACTTATTTCTGTTTTTTCCTTACGACAATTTATCGTAATTTACATATGGATAGTTCACATACTGAAAATGAGATGATTGCTTTCTACTGAGAGGTTGTAGTTGAAAGGAATTGTTTCCAAGGCATTTGAAAATTATTTAAATCTCTTAAGGAATTGCCACATAATTTGTTCATATTATGTAAGTGTTGCCATTTGGCTATAAACATGGTATTTTCAAGGAAAAAAAGAGTAAGTCTACTTTAATTGACTGGTGTTCAGGAAGGGCACATTTAGTAACTGCTCAAAATACTAAACTTTTTTGCCAACCACATGATGTCTAGTTTTTCATACTTATTTTATTTGAAAATGTGTATTTTACTTTAAAATGAATATATTATGAAAAATGAAAACTATGAAAATTACTAAATCTTAAGCCTAAAGTTATTTTATGTGGTGCACCTGGTACCACAATACGGTTTCAAAAGCTATTAAAAAAAGACACAGTAATTTGAATAGGATGTTATATGGGATGCCTTTCTTAGTTTATCAGTTTCTGACAAGATCTTACGAGATGTGTTGGGTAAGGAAGACCCTTCACTCAATGTACTTTGTTATTATTCAGCTTTTTGTTACTTTAGGCTGATTAACACAAGCTGTATAATTTAGTAAGTATAAGGAAATCAAGTTGCATTGGTTGCTTTGGGCAAGTCAAAATTGCTGAGAGTTGGAGGAATCCATTATACTATCAGACTAAAAATTGATCATTTGTAGAAACTAGATTAAATAAAGTAGGAGTTGAGGGAAAAATGTAAACAACCATACTGTCCCAAAAAAGCATTTCTTCCCTCCCAGTTTTGGGATTCCTCCCTGAATGGAGTTCAGTATTCAAAATGTGTATCATAAGTTGGTTTTATATTTTACTATCCGGCGAACAGGATTTGTAATCCACAGTTTGGGTTAAGGTAATATAACTCGATGCTATTCAAAATATTCTGAGAATTCCAAGTGAAGAAATTAAAATGTCGAGACTTCAATTAGCTTAGTTTTGAATAAGAAAAAATCTGGGACTGAAATGTGAGAGATGTGAGGCTATTCAATCCCTCTTATCTACAATTTGAATGTATTATTCTTCCAGATTTTTTAAATAAACATCTGGAGTATTATAAATTAGAAGCCTACATTTTAGGTCATTTAATGCATAGTCTACATATGTAGTGAAAATTCATCCAGTCAGTTTTTTATTAAATGATAGACTTTAAAGATATAGTGATTTTCACAATTGTCATTTTTTAATAATATATCAAGTAATTCATTTTAAAGTTAAAGATACACTTCCAAATAAAATAGGCACTAAAAACTAGACATCAGAGTTAAACAGGGTAAATTGAAATAGAAAATACATAAAATAATTGTTTAAAAAATATTTCACTAGGATCAGTTTGTCTTTGTTTATGGTAATTGTTAGTCTCCCATATATCATGTCATCATTGCATATCAATTTATAGGTTTACTTAATAGTTTTATTTCATTTACTAATTTCATGTTGTAATTATCATTGTTGTCTGTAAACATATAAGTAATGGTTTTCCACATACACTTTTAATACTGTGTTGAACCACTAATCACTTTTAAAGCTTTGATAATAGCATTCTTACCTGGGAAAATATATGCCATGTATGCACGTGTGCCAGAAATTGTAAAACATTAAACTTAAAAAAAAAAAAAGAAGATTGGCTACAGATTAGCTCTCTGAAGACTTTATTTTT	A	G31199528C	NF1	NM_001042492.3(NF1):c.889-894_1261-284del	noncoding	Pathogenic
17	31200232	A	AT	A31200241T	NF1	NM_001042492.3(NF1):c.889-182dup	noncoding	Benign
17	31200426	TA	T	A31200427T	NF1	NM_001042492.3(NF1):c.894del:p.Leu298fs	coding	Pathogenic
17	31200448	AG	A	G31200449C	NF1	NM_001042492.3(NF1):c.916del:p.Ala306fs	coding	Pathogenic
17	31200466	AG	A	G31200468A	NF1	NM_001042492.3(NF1):c.935del:p.Gly312fs	coding	Pathogenic
17	31200468	GA	G	A31200470G	NF1	NM_001042492.3(NF1):c.937del:p.Ser313fs	coding	Pathogenic
17	31200469	A	AAG	T31200472A	NF1	NM_001042492.3(NF1):c.937_938dup:p.Ser313fs	coding	Pathogenic
17	31200499	T	TG	C31200501G	NF1	NM_001042492.3(NF1):c.967dup:p.Ala323fs	coding	Pathogenic
17	31200506	GT	G	T31200507C	NF1	NM_001042492.3(NF1):c.974del:p.Val325fs	coding	Pathogenic
17	31200508	C	CA	C31200512A	NF1	NM_001042492.3(NF1):c.978dup:p.Leu327fs	coding	Pathogenic
17	31200517	TA	T	A31200520G	NF1	NM_001042492.3(NF1):c.987del:p.Ala330fs	coding	Pathogenic
17	31200531	AC	A	C31200532A	NF1	NM_001042492.3(NF1):c.999del:p.Thr332_Tyr333insTer	coding	Pathogenic
17	31200534	TC	T	C31200535A	NF1	NM_001042492.3(NF1):c.1002del:p.Asn335fs	coding	Pathogenic
17	31200535	CAATT	C	A31200536G	NF1	NM_001042492.3(NF1):c.1003_1006del:p.Asn335fs	coding	Pathogenic
17	31200541	GG	AA	G31200541A	NF1	NM_001042492.3(NF1):c.1008_1009delinsAA:p.Trp336_Glu337delinsTer	coding	Pathogenic
17	31200552	CTG	C	G31200554C	NF1	NM_001042492.3(NF1):c.1021_1022del:p.Val341fs	coding	Pathogenic
17	31200555	TCA	T	C31200556T	NF1	NM_001042492.3(NF1):c.1023_1024del:p.Ile342fs	coding	Pathogenic
17	31200555	T	TC	A31200557C	NF1	NM_001042492.3(NF1):c.1023dup:p.Ile342fs	coding	Pathogenic
17	31200555	T	TGA	C31200556G	NF1	NM_001042492.3(NF1):c.1022_1023insGA:p.Ile342fs	coding	Pathogenic
17	31200556	C	CGACA	A31200557G	NF1	NM_001042492.3(NF1):c.1023_1024insGACA:p.Ile342fs	coding	Pathogenic
17	31200561	TC	T	C31200563T	NF1	NM_001042492.3(NF1):c.1030del:p.Leu344fs	coding	Pathogenic
17	31200586	TG	T	G31200587A	NF1	NM_001042492.3(NF1):c.1054del:p.Asp352fs	coding	Pathogenic
17	31200596	GT	G	T31200597A	NF1	NM_001042492.3(NF1):c.1062+2del	coding	Pathogenic
17	31201040	CT	C	T31201041G	NF1	NM_001042492.3(NF1):c.1067del:p.Leu356fs	coding	Pathogenic
17	31201042	GC	G	C31201043T	NF1	NM_001042492.3(NF1):c.1069del:p.Leu357fs	coding	Pathogenic
17	31201051	T	TC	A31201054C	NF1	NM_001042492.3(NF1):c.1079dup:p.Ser361fs	coding	Pathogenic
17	31201068	C	CA	G31201071A	NF1	NM_001042492.3(NF1):c.1096dup:p.Arg366fs	coding	Pathogenic
17	31201069	A	AAGAGGCAGTCAGCCTGC	T31201090G	NF1	NM_001042492.3(NF1):c.1099_1115dup:p.Asp372fs	coding	Pathogenic
17	31201074	GC	G	C31201075A	NF1	NM_001042492.3(NF1):c.1101del:p.Ser368fs	coding	Pathogenic
17	31201075	CA	C	A31201076G	NF1	NM_001042492.3(NF1):c.1102del:p.Ser368fs	coding	Pathogenic
17	31201089	AT	A	T31201090G	NF1	NM_001042492.3(NF1):c.1116del:p.Asp372fs	coding	Pathogenic
17	31201100	ATGAT	A	T31201104C	NF1	NM_001042492.3(NF1):c.1130_1133del:p.Ile377fs	coding	Pathogenic
17	31201101	T	TG	A31201103G	NF1	NM_001042492.3(NF1):c.1128dup:p.Ile377fs	coding	Pathogenic
17	31201103	AT	A	T31201105G	NF1	NM_001042492.3(NF1):c.1131del:p.Ile377fs	coding	Pathogenic
17	31201104	TTGAC	T	A31201107C	NF1	NM_001042492.3(NF1):c.1133_1136del:p.Asp378fs	coding	Pathogenic
17	31201104	T	TTGAA	C31201108A	NF1	NM_001042492.3(NF1):c.1133_1134insATGA:p.Asp378delinsGluTer	coding	Pathogenic
17	31201105	TG	T	G31201106A	NF1	NM_001042492.3(NF1):c.1132del:p.Asp378fs	coding	Pathogenic
17	31201115	GTT	G	T31201117C	NF1	NM_001042492.3(NF1):c.1143_1144del:p.Ser382fs	coding	Pathogenic
17	31201152	AC	A	C31201153T	NF1	NM_001042492.3(NF1):c.1179del:p.Phe394fs	coding	Pathogenic
17	31201155	TTAAGG	T	A31201157G	NF1	NM_001042492.3(NF1):c.1183_1185+2del	coding	Pathogenic/Likely_pathogenic
17	31201157	AAGGTG	A	G31201160A	NF1	NM_001042492.3(NF1):c.1185+1_1185+5del	coding	Pathogenic
17	31201388	C	CT	C31201399T	NF1	NM_001042492.3(NF1):c.1186-13dup	noncoding	Benign
17	31201414	TG	T	G31201415C	NF1	NM_001042492.3(NF1):c.1190del:p.Cys397fs	coding	Pathogenic
17	31201437	T	TCGAA	A31201438C	NF1	NM_001042492.3(NF1):c.1212_1213insCGAA:p.Thr405fs	coding	Pathogenic
17	31201457	TA	T	A31201460T	NF1	NM_001042492.3(NF1):c.1235del:p.Asn412fs	coding	Pathogenic
17	31201460	AT	A	T31201462C	NF1	NM_001042492.3(NF1):c.1237del:p.Ser413fs	coding	Pathogenic
17	31201470	TC	T	C31201471G	NF1	NM_001042492.3(NF1):c.1246del:p.Arg416fs	coding	Pathogenic
17	31201474	A	ATT	C31201476T	NF1	NM_001042492.3(NF1):c.1250_1251insTT:p.Ile418fs	coding	Pathogenic
17	31201477	AT	A	T31201478C	NF1	NM_001042492.3(NF1):c.1253del:p.Ile418fs	coding	Pathogenic
17	31201480	AC	A	C31201482A	NF1	NM_001042492.3(NF1):c.1257del:p.Asn420fs	coding	Pathogenic
17	31206269	T	TG	C31206271G	NF1	NM_001042492.3(NF1):c.1291dup:p.Ala431fs	coding	Pathogenic
17	31206317	AC	A	C31206318T	NF1	NM_001042492.3(NF1):c.1339del:p.Leu447fs	coding	Pathogenic
17	31206319	TTC	T	T31206320A	NF1	NM_001042492.3(NF1):c.1341_1342del:p.Leu447_His448insTer	coding	Pathogenic
17	31206323	TAA	T	A31206325G	NF1	NM_001042492.3(NF1):c.1346_1347del:p.Lys449fs	coding	Pathogenic
17	31206323	T	TAG	A31206325G	NF1	NM_001042492.3(NF1):c.1345_1346insGA:p.Lys449fs	coding	Pathogenic
17	31206333	C	CA	G31206336A	NF1	NM_001042492.3(NF1):c.1356dup:p.Gly453fs	coding	Pathogenic
17	31206335	AG	A	G31206337T	NF1	NM_001042492.3(NF1):c.1358del:p.Gly453fs	coding	Pathogenic
17	31206339	TGTG	T	T31206341A	NF1	NM_001042492.3(NF1):c.1362_1364del:p.Cys454_Gly455delinsTer	coding	Pathogenic
17	31206349	AC	A	C31206352A	NF1	NM_001042492.3(NF1):c.1373del:p.Pro458fs	coding	Pathogenic
17	31206351	CC	G	C31206351G	NF1	NM_001042492.3(NF1):c.1372_1373delinsG:p.Pro458fs	coding	Pathogenic
17	31206667	CTTTTGAACAAAAATA	C	A31206674T	NF1	NM_001042492.3(NF1):c.1392+303_1392+317del	noncoding	Benign
17	31214443	G	GT	A31214449T	NF1	NM_001042492.3(NF1):c.1393-3dup	noncoding	Benign
17	31214456	T	TAA	C31214458A	NF1	NM_001042492.3(NF1):c.1399_1400insAA:p.Thr467fs	coding	Pathogenic
17	31214471	AG	A	G31214472T	NF1	NM_001042492.3(NF1):c.1414del:p.Lys471_Val472insTer	coding	Pathogenic
17	31214479	GC	G	C31214481T	NF1	NM_001042492.3(NF1):c.1423del:p.Lys476fs	coding	Pathogenic
17	31214483	TA	T	A31214486T	NF1	NM_001042492.3(NF1):c.1428del:p.Lys476fs	coding	Pathogenic
17	31214489	TAAAG	T	G31214493A	NF1	NM_001042492.3(NF1):c.1435_1438del:p.Glu479fs	coding	Pathogenic
17	31214493	GA	G	A31214498C	NF1	NM_001042492.3(NF1):c.1440del:p.Lys480fs	coding	Pathogenic
17	31214496	AAACC	A	A31214497T	NF1	NM_001042492.3(NF1):c.1439_1442del:p.Lys480fs	coding	Pathogenic
17	31214506	AC	A	C31214508T	NF1	NM_001042492.3(NF1):c.1450del:p.Leu484fs	coding	Pathogenic
17	31214510	GGA	G	G31214513C	NF1	NM_001042492.3(NF1):c.1455_1456del:p.Glu485fs	coding	Pathogenic
17	31214522	C	CT	A31214524T	NF1	NM_001042492.3(NF1):c.1465dup:p.Tyr489fs	coding	Pathogenic
17	31214524	A	AT	A31214526T	NF1	NM_001042492.3(NF1):c.1467dup:p.Lys490Ter	coding	Pathogenic
17	31214532	C	CTTCTCTTGTCCATGGTGAAACTAATTCATGCAGATCCAAAGCTCTTGCT	G31214584C	NF1	NM_001042492.3(NF1):c.1477_1525dup:p.Cys509fs	coding	Pathogenic
17	31214549	GA	G	A31214552C	NF1	NM_001042492.3(NF1):c.1494del:p.Lys498fs	coding	Pathogenic
17	31214555	AAT	A	A31214556T	NF1	NM_001042492.3(NF1):c.1498_1499del:p.Ile500fs	coding	Pathogenic
17	31214557	TTC	T	T31214558A	NF1	NM_001042492.3(NF1):c.1500_1501del:p.His501fs	coding	Pathogenic
17	31214567	TC	T	C31214569A	NF1	NM_001042492.3(NF1):c.1511del:p.Pro504fs	coding	Pathogenic
17	31214569	C	CA	G31214573A	NF1	NM_001042492.3(NF1):c.1514dup:p.Leu506fs	coding	Pathogenic
17	31214575	T	TC	T31214577C	NF1	NM_001042492.3(NF1):c.1518dup:p.Leu508fs	coding	Pathogenic
17	31214582	TTGTG	T	G31214584A	NF1	NM_001042492.3(NF1):c.1526_1527+2del	coding	Pathogenic
17	31214585	TGTAA	T	A31214589T	NF1	NM_001042492.3(NF1):c.1527+4_1527+7del	coding	Pathogenic/Likely_pathogenic
17	31214585	TG	T	G31214586T	NF1	NM_001042492.3(NF1):c.1527+1del	coding	Pathogenic
17	31214592	A	AT	A31214600T	NF1	NM_001042492.3(NF1):c.1527+14dup	noncoding	Benign
17	31214592	AT	A	T31214599A	NF1	NM_001042492.3(NF1):c.1527+14del	noncoding	Benign
17	31216092	CTCTATAAAAAAATGAAGTTCCCTTTCTCTTCATTCCTTTGTTATGTGTTACAAGCTATTTGTGGCATTATTTCATCATGAAGGTCACATAATACTAGCAGTACTCTGTTTACGTGGTGATAATTCACATTCAAAGCAGGCACCAAACTCACCAATGCCGTTTCTACTAAATGTTGCTTCAAGAAGAATTTAAGCAAAACTTGCCATTTTCCAAGGATCATTTAAAATGGAAATTATTTGCTTTGCTGCCATCTAGTGGTTAATAAGTTTTCTCAAGGTAACCATAAGTACATTAAAATAGAAGATTCGTTGTAAATATTTGACCATTTTGTCTTTTACATAAAAAATCTGAGTCTTAGTAATTTAGGAGGAATGTAGGAATAATTATTAAATGGTCTCAATCATGGTATTTTTAAAGTAATATGATTTTGTCTTCCATTTTAGTACTCTCAATTTCTCAAGCCTCCTAATTACTCAGCTTGCATCGTTTCTTAGATCCCCCTGATCATTTCTCCACACTGAAGTTATGGCAGTCTCTTTAAAAAGCAAATCTTATTATGCCCCCTCTCAGCTTGAACCCTTTTAGTTGAAATTGCTCTTGCTTATGAAGACCAAACTCCAAATAGATCTACAGGGTCGTGCAAAATCTTTCTCCCATCTACCATTTCTTCCACATGTAGCATTACATTTTTTGTCTTCCTTTACTCTATTCATGATGGTCTTCCTTTCAGTCTTTCTAACCACATGCCTTCATACCTCCCTTGCAGTTGCTTTTCCCTCTGCCTAGAATCTGCTTACTCTTAACATAGTAATTCCTACTCATTCTAAGCTATTGTCACTGCACTAAGGAAGCCTCCCTGAGTCGGACACTTTTCCATGTTATAGGCTGTCATAGCAGCATGTACCTTAATAATAGCTCTTATGTGATTTGCATTTTTATACTTGTTGATCTGATTATTTCATTGATGATATCTTCCCCCATGAGACTACATGCTCATGGAGGATGGGAAACACATCTTCTCTTTTTCATTGTTGTGTCTTTGGCATTCAATAAAAATGATTTGGTTTTGGATGAATTTATATGAATGTCAGAAAATAAGCTAACGGTTTTGAATTACAGATATATTGCAGTGAGGGCTTACCTTAGTCATTATAATGGGGAAAAATCTATAGTTAGCAAAATAAAATATGGGACACAAGTTGCATTGGCTTCATATATTCTTCTTTTTTTTTTTTCTGAGACAGAGTCTCACTATATTGCCCAGGCTAGAGTGCAGTGGTGTGATCTCAGCTCTCTGCAACCTCCGCCTCCTGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGAGATTACAAGCACCCGCCACCAAACCGGCTTGTACTTTTAGGAGAGATGGGGTTTCTTCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCACTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAACCATATATTCTTGAAGTGCAAATATATGCTTCCAAGTTAAGAGAAACATTTTAGTCTCTAAATAGGTAGGCATTCGGCAGGGCGTGGTCGCTCACATCTGTAATCCCAGCATGTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAATAATGCAAAAATTAGCTAGACGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCGTTTCAAAAAAAAAAAAAAAAAAGGTAGGCATTCACATTTTTACATAACGTTAATTTTCTTTGCTTAGTACACTATATTTTTCCACGATGAAAAGGACCGAAGTATGGGTATCTGCCGATGCAAATTCTAGCCTTTGCTTTGTTACCAGCTGTGTGGATTTGGGCAGGACCTTTGTATGGGTCAAGAGGGCTGTACAGGATAATCATGCAATCCTTATCCAACATGTATGTCCTTTACCTTTGATCACAATCATGTATAAGCTCAAAACCAGTAAGTTCCAAACCAGAGATACGTTCTTTAGCCAGTTTACTATTGTTGGAAAAAAAATTATTCCTCATATTGTTGATGTAATTTTTAATGGGAATTCGTGGTTTTTGTTTTCATTAGGATTTTCCCTGGACATTATTCACATTAATGAACAAGTATAGATGTGGATTAAAAGAATCCCTAACAAAAGAAGTTTTGATTTAATAAAATTTTTATTTTATTGAGATAAAAATACTATACCCACATACCATAAAATTCACCATCTTAAAGTTTACAATTCAGTTGTTTTCAGTATATTTACAAGGTTCTGCAACCATTACCACTATGTAATTCTAGAACTTTTTTTTCTTTCTTTCTTTTTTTTCTTTTTTCTTTTTTTCTTTTTTCCAGATGGAGTCTCGCTCTGCCACCCAGGCTGGAGTGCAGCGGTGCAATCTTGGCTCACTGCAACCACCGCCTCCCAGCTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACCACAGGCGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATAGAATTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCGCCACTACCTCCCAAAGTCCTGGGCTTACAGGCGTGAACCACCGCGTCCAGCCTAGTTCTAGAACATTGTTATCACCCCTAAAAGAAACTTGGTACCCTTTAGCAGTCACTGTCTATTTCTTCCTCCTTCTAATCTCTCTCGATTTATTTATTTTTTTAATTGAAGTTTCCTTTTTTTCCTTGCAGAATCCAAGAAAACAGGGGCCCGAAACCCAAGGCAGTACAGCAGAATTAATTACAGGGCTCGTCCAACTGGTCCCTCAGTCACACATGCCAGAGATTGCTCAGGAAGCAATGGAGGTAAGGGGAAAATGAATTCCATGTTCTTGAAGGAAAGATTGTAACTATGTACATTCATGATGTTCCTTTGGTGTGTGGTTTCTGTGAGTAACAGGTAGATGTCATTTCTGGAAATGGTATGTTTATGTCTATACATTGTTTTATAAAACTCCATGGAGAAAGAAGGGGTTTACTTGCTTTGTATCACATAGCAATAACATTGTACAAATTCTGATGCTTAATAAAATAGTTCGAGATTTTCTAATTGCAGTTGACTTTAAAATTTTTAAAAATATTATTATTAAATATTAAAAATACTAATTTTTAAATTGAGACATAATTCACATACCCTCAATTTGGCCATTTTAAGTAGTTCTTTTTTTTAAATTTTATTATTATTGTACTTTTAAGTTTTAGGTTACATGCGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTAGGTATATCTCCTAATGGTATCCCTCCCCCCTCCCCCCTAAGTAGTTCTTATTCACACAGTTGTGCAACTATAGCTACTCTCTAATCCATAACATTTTTATCACCCCAGAAAGAAACTTGACTCCCCATTCCCTCATCCCTACCAACTACTAATCTATTTTCTGTCTCTATGGATTTGCTTGTTTTAGATATTTCATATAAATAGAATCATAGAATATGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTCTTATAATGTGTCTTTTTGATTGTAGCCATCCTAATGTACATACTGTACAAA	C	C31216094G	NF1	NM_001042492.3(NF1):c.1527+1509_1641+1137del	noncoding	Pathogenic
17	31218042	GGTATCTGCCGATGCAAATTCTAGCCTTTGCTTTGTTACCAGCTGTGTGGATTTGGGCAGGACCTTTGTATGGGTCAAGAGGGCTGTACAGGATAATCATGCAATCCTTATCCAACATGTATGTCCTTTACCTTTGATCACAATCATGTATAAGCTCAAAACCAGTAAGTTCCAAACCAGAGATACGTTCTTTAGCCAGTTTACTATTGTTGGAAAAAAAATTATTCCTCATATTGTTGATGTAATTTTTAATGGGAATTCGTGGTTTTTGTTTTCATTAGGATTTTCCCTGGACATTATTCACATTAATGAACAAGTATAGATGTGGATTAAAAGAATCCCTAACAAAAGAAGTTTTGATTTAATAAAATTTTTATTTTATTGAGATAAAAATACTATACCCACATACCATAAAATTCACCATCTTAAAGTTTACAATTCAGTTGTTTTCAGTATATTTACAAGGTTCTGCAACCATTACCACTATGTAATTCTAGAACTTTTTTTTCTTTCTTTCTTTTTTTTCTTTTTTCTTTTTTTCTTTTTTCCAGATGGAGTCTCGCTCTGCCACCCAGGCTGGAGTGCAGCGGTGCAATCTTGGCTCACTGCAACCACCGCCTCCCAGCTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACCACAGGCGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATAGAATTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCGCCACTACCTCCCAAAGTCCTGGGCTTACAGGCGTGAACCACCGCGTCCAGCCTAGTTCTAGAACATTGTTATCACCCCTAAAAGAAACTTGGTACCCTTTAGCAGTCACTGTCTATTTCTTCCTCCTTCTAATCTCTCTCGATTTATTTATTTTTTTAATTGAAGTTTCCTTTTTTTCCTTGCAGAATCCAAGAAAACAGGGGCCCGAAACCCAAGGCAGTACAGCAGAATTAATTACAGGGCTCGTCCAACTGGTCCCTCAGTCACACATGCCAGAGATTGCTCAGGAAGCAATGGAGGTAAGGGGAAAATGAATTCCATGTTCTTGAAGGAAAGATTGTAACTATGTACATTCATGATGTTCCTTTGGTGTGTGGTTTCTGTGAGTAACAGGTAGATGTCATTTCTGGAAATGGTATGTTTATGTCTATACATTGTTTTATAAAACTCCATGGAGAAAGAAGGGGTTTACTTGCTTTGTATCACATAGCAATAACATTGTACAAATTCTGATGCTTAATAAAATAGTTCGAGATTTTCTAATTGCAGTTGACTTTAAAATTTTTAAAAATATTATTATTAAATATTAAAAATACTAATTTTTAAATTGAGACATAATTCACATACCCTCAATTTGGCCATTTTAAGTAGTTCTTTTTTTTAAATTTTATTATTATTGTACTTTTAAGTTTTAGGTTACATGCGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTTGTCATTTAGCATTAGGTATATCTCCTAATGGTATCCCTCCCCCCTCCCCCCTAAGTAGTTCTTATTCACACAGTTGTGCAACTATAGCTACTCTCTAATCCATAACATTTTTATCACCCCAGAAAGAAACTTGACTCCCCATTCCCTCATCCCTACCAACTACTAATCTATTTTCTGTCTCTATGGATTTGCTTGTTTTAGATATTTCATATAAATAGAATCATAGAATATGTGGCCTTTTATGTCTGGCTACCTTGACTTAATGCTTTCAAGGTTCATTTATGTTGTGGTATGAATCACTATTTTCTTCCTTTTTATTGCCAAATATTTCATTGTATGGATCTGTTTTGTTCATCTAGTTATCAGTTGGTGGACGTTTGGTGTTGTTTCTACTTTTTAGCTATTACAAATAATGCTGCTATGAACATTTGTGTAAAAGTCTATATGTGGACATATCTCTTAAGTATATAGGAGTGGAACTGCTAAGTCGTGTGGTAACTCTGTCGAACTTTTGAGGAACTGTCAAACTCTTTTTCTGAAGCAGCTGTATCATTTTATATTCCCAGTAACAACATATGAAGGTTTTAATAGTTCTGTATGCTTGCTAACACTTCTTATAATGTGTCTTTTTGATTGTAGCCATCCTAATGTACATACTGTACAAATGTTTATACATACCCAGTAAAAATGTTTATAAAAATATTTTAGCACTTACTACGTAATCATTGCTTCCATTTGTGTACATTGCTATTGGTCCCGTAAATTGATACATTTCTTGTAGTCTTTTTGGAAGGCTATTTGGCAGGAGCTATACAAACATTTCATTTTTTTATGCAAATAATTCAATTTCTATCACTTTAAAAATCTTATGAATATAACTCAAAAGGAAAAAGCTGCACACATAGGTACTTATTGCTCTTAATTATAATAGAATATTAAGAGAGCTTTATTTACTGGGAGGAGAATGGGTTAATATTCAATAGTGAGAATGCTATTTTAACTTGGTGAGCTGTTAAACATTTATTAAAACTTATATAGATCACACAGCAATATGGAAAAATATGAAATGTCAAGTGAGTATACTGCATTTATGGCTTTGTTAAAACATGGAAAATACAAAAAAAAGAAGGCAATATGAAAAGAAAATTAAAGCCTGGAAAAGGCTAACACATTTTCTTTCAATATGTATTTTTAAAGTTTTATCAAACAAAAATATAGAGAATTTGTCACTTAAAAAAACTAGTGCCAGTAAATTGTACCACGTTTTTGTACAATAGTAGCAAAATTGAATTTTAATTTGTGTTGTTTTTCCTTGATATGAGAGCTATAAATTATATAGCTTTTTAAGATTCTCAACAATTAATTGCAATTTTCATTAAATATCTCAAAGTAATTACAATAAAAATGTTTGAAATAAGATAATATGGGTCTGGCCTTTAAATGTTGATATGTTGACCAAGGACTGAAAGAAATGTCCAGAGCTTCACAGTTTCTGCTGGGTTGGGGGTGGAGGGATGGTGGGAGGAATGTGAATTGGGATTGTAGAATTGGAGTTGAGATAAGATCAGTTCGAAGGAAGAGTTTGTGTTTTTTTTATATCTTTGATGGTTTTAATTTATATAATAATCTATTTATATGTTATATATTGTAAATGAATTATTTAATTCCCGTTAGTGTTCTCTGAGCCAGATTCCAACTTCAGTTCTGTGGTCAATTGAAATACTTTAGAATGGATAATCTGCTATGAAATACTGAATCCATTTTGCTTCCTCTCTCTTGATTTTGAAAAATAATTGCTCTTTTCTGTTACAAGAGACTTTGTGGCAAGTGAGACAGTTTAAGTAAAAACTTAAAAGATAAGTAAATCTTTTGCTGTGTGTATTAATTTTGGCAAGCCTTCTTACTTGGGGATTAGCTTTTTGTTTCATAGAGTTCTTTAATATCTATTGAAATTATTTTGTTTGTTTCTTAAAGCAGTTTTTACAGTTATATATTGTTCCGAATTCATCATTTAGCTTTATATGTACATGCCAGTTAGAGTCAGAATGATGGGAATAAAATGATTTCATTCTGTCTGTATTATTCCCTAGAGGTTTGTGTTCACCAGAGTTTCTCTCTTTTTACCTTTTACTATATATTGAAACTACAAATGAAAGAGCTCAATTTCTTAGCATTTATAAAATAAGTACTCCAGTGTTATGTTTACCAAAAATGTTTGAGTGAGTCTTCTCTTTGTCTTTCTCTTTTTTAAAAAATTCAGGCTCTGCTGGTTCTTCATCAGTTAGATAGCATTGATTTGTGGAATCCTGATGCTCCTGTAGAAACATTTTGGGAGATTAGGTATATGTACTTTTATTTTTTAAATTCAACTTTTAAATTTTATTTTGTATTTTTGTCTTGAAATATTAACTCTGTAGTACTTAGTACATTGTAAAACTTACACTTCCAAAGGTTTTATGGTTTTGTATTTTATTTGACTTCAAATTATTAGAATTTCTTGTTTTAACTGTAAGAAAAGTATCACAGCAATTTAGAAAATAAATTTTAAGAATAGTGCTAAATTTTGTCACCCTAACATAAGTACTGTTGTTTGGTATATTACTTTTTTCAGATTTCAATGTGGTTACTACTGTATTTTTAATAGATTTTCATAGTTATAAGCCTAGAATGATAAAATTTTGTAACAATACTGTTTTTTCAGTTTTTTGAACTATGATCTTTCATAAACTTTCTGTAATACCAATGCTTTCGATGAATGAATTAATAATGGACACCTGCTTAGAAGAAAAAAATGTATGCAGAATTTTGTGGTCTGCTTCCTAGATTATACAAATCATTACATTTTAATGAGCATGAAGTCACCACACGGAGGAAAATGTAAATGTGTAAACCTCAAGTTTGCCATTATCTTATAAGAATGGGTGTGCTAAGTTACTTGGCAGCTGAATTAAACCTTACTCTAGAGTAGTGCTGTCCACTAGTAATATAATGAGAACCCCATATGTTAAAAACTTTTTTACTTACTACATTAAAGAGTAAAAAGAAGCAGGTAAAATTAATTGTAATTATGTTTTGTTTAACCCGGTGTATATTATCTATAATTTCAACATGTAATCAATATAAAAGTTATTAATGACATTTCATTCTCTTTTTTTTAATAAAGTCTTCAAACTTTGGTGTGTCTTTTATACTTACAGCACATCTCAATTTGAACAAGCCACACTTAAAGTGCTCAATAGCCACGTGTGGCTGGCTAGTGGCTACCATGTTAGACAGTGCAGCTCTGGAGTAGGGATCAGGAAACTTTTCTCTAAAAGGCCAGATAGTAAATATTTTAGGGCTTGTGGGTCATATAGTTTCTGTCATAACCATTCAGTTCTGCCTTTGGAGCATGAAAGTGGCCACAGACATGTGAATGAACGGGCATGGCTGTGTTTAACTAAAACTGTATATTTACAATAGCAAGTGATAGGCTAGGTTTGGCCTGTGGATGGTAGCTTGCAGACCCCCACTGTGGAGCACTGGGTTTATAGGCAGTCTCTGCTGTGCATGTGGTTTATTGTTTCTTCTTATGTCTACTACAAGGATGAGATACATGGATAGAAACACTGGGAGTTTAATGAAACATAGGGGGCTTATAGATAAATACTTGCTTTTTTTCTATAACCTGTAGACTTATTTCCTTTGATTATAATGCTATTGACACTTTGATAACTGTTTCTCTAAAACCTTACAAGAAAAACTAAGCTTCTCTAAACTTGTATTCATTATGGGAGAATGCCATTCTTATGTCTGGTTATATCTGCATTAGGTTATTGATGATGCTAGTAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAACTA	G	A31218045C	NF1	NM_001042492.3(NF1):c.1528-960_1761del	noncoding	Pathogenic
17	31219038	AGT	A	G31219039A	NF1	NM_001042492.3(NF1):c.1562_1563del:p.Ser521fs	coding	Pathogenic
17	31219072	TG	T	G31219074T	NF1	NM_001042492.3(NF1):c.1597del:p.Val533fs	coding	Pathogenic
17	31219075	TC	T	C31219078T	NF1	NM_001042492.3(NF1):c.1601del:p.Pro534fs	coding	Pathogenic
17	31219101	G	GT	C31219102T	NF1	NM_001042492.3(NF1):c.1624_1625insT:p.Ala542fs	coding	Pathogenic
17	31219105	AG	A	G31219107A	NF1	NM_001042492.3(NF1):c.1630del:p.Glu544fs	coding	Pathogenic
17	31221838	T	TA	T31221845A	NF1	NM_001042492.3(NF1):c.1642-6dup	noncoding	Benign
17	31221864	T	TA	C31221865A	NF1	NM_001042492.3(NF1):c.1656_1657insA:p.His553fs	coding	Pathogenic
17	31221867	TC	T	C31221868A	NF1	NM_001042492.3(NF1):c.1660del:p.Gln554fs	coding	Pathogenic
17	31221868	CAG	C	A31221869T	NF1	NM_001042492.3(NF1):c.1661_1662del:p.Gln554fs	coding	Pathogenic
17	31221868	C	CAGT	T31221872A	NF1	NM_001042492.3(NF1):c.1661_1663dup:p.Leu555Ter	coding	Pathogenic
17	31221877	AGCATTGATTTGTG	A	C31221879A	NF1	NM_001042492.3(NF1):c.1671_1683del:p.Ser557fs	coding	Pathogenic
17	31221884	AT	A	T31221887G	NF1	NM_001042492.3(NF1):c.1679del:p.Leu560fs	coding	Pathogenic
17	31221889	T	TGGAATCC	T31221897G	NF1	NM_001042492.3(NF1):c.1682_1688dup:p.Asp564fs	coding	Pathogenic
17	31221899	A	AC	T31221900C	NF1	NM_001042492.3(NF1):c.1691_1692insC:p.Ala565fs	coding	Pathogenic
17	31221908	T	TAG	A31221912G	NF1	NM_001042492.3(NF1):c.1702_1703dup:p.Thr569fs	coding	Pathogenic
17	31221914	CA	C	A31221915T	NF1	NM_001042492.3(NF1):c.1707del:p.Trp571fs	coding	Pathogenic
17	31221919	T	TG	A31221923G	NF1	NM_001042492.3(NF1):c.1714dup:p.Glu572fs	coding	Pathogenic
17	31223448	C	CTTTT	A31223449T	NF1	NM_001042492.3(NF1):c.1726_1727insTTTT:p.Gln576fs	coding	Pathogenic
17	31223454	CT	C	T31223460A	NF1	NM_001042492.3(NF1):c.1738del:p.Tyr580fs	coding	Pathogenic/Likely_pathogenic
17	31223463	AT	A	T31223464C	NF1	NM_001042492.3(NF1):c.1742del:p.Ile581fs	coding	Pathogenic
17	31223468	CA	C	A31223470G	NF1	NM_001042492.3(NF1):c.1748del:p.Lys583fs	coding	Pathogenic
17	31223474	AT	A	T31223476A	NF1	NM_001042492.3(NF1):c.1754del:p.Lys584_Leu585insTer	coding	Pathogenic
17	31223476	TA	T	A31223478C	NF1	NM_001042492.3(NF1):c.1756del:p.Thr586fs	coding	Pathogenic
17	31223480	T	TA	G31223482A	NF1	NM_001042492.3(NF1):c.1759dup:p.Ser587fs	coding	Pathogenic
17	31223498	T	TAATA	G31223500A	NF1	NM_001042492.3(NF1):c.1777_1778insATAA:p.Ser593fs	coding	Pathogenic
17	31223508	AT	A	T31223510C	NF1	NM_001042492.3(NF1):c.1788del:p.Leu597fs	coding	Pathogenic
17	31223528	AAT	A	A31223531T	NF1	NM_001042492.3(NF1):c.1809_1810del:p.Leu604fs	coding	Pathogenic
17	31223528	AATATT	A	A31223529G	NF1	NM_001042492.3(NF1):c.1807_1811del:p.Ile603fs	coding	Pathogenic
17	31223557	T	TAAAAATAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T31223558A	NF1	NM_001042492.3(NF1):c.1835_1836insAAAAATAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA:p.Asn614fs	coding	Pathogenic
17	31223558	T	TAAAAATAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A31223570G	NF1	NM_001042492.3(NF1):c.1845+2_1845+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAGGT	coding	Pathogenic
17	31225083	A	AT	C31225091T	NF1	NM_001042492.3(NF1):c.1846-5dup	noncoding	Benign
17	31225093	AGCAG	A	G31225098A	NF1	NC_000017.10:g.29552112_29552115del	noncoding	Pathogenic
17	31225118	C	CT	C31225122T	NF1	NM_001042492.3(NF1):c.1872dup:p.Leu625fs	coding	Pathogenic
17	31225120	TTC	T	T31225123C	NF1	NM_001042492.3(NF1):c.1874_1875del:p.Leu625fs	coding	Pathogenic
17	31225125	CT	C	T31225131A	NF1	NM_001042492.3(NF1):c.1882del:p.Tyr628fs	coding	Pathogenic
17	31225133	C	CG	T31225138G	NF1	NM_001042492.3(NF1):c.1888dup:p.Val630fs	coding	Pathogenic
17	31225142	ATGTGATATTCCTTCTAG	A	T31225145G	NF1	NM_001042492.3(NF1):c.1896_1912del:p.Cys632fs	coding	Pathogenic
17	31225143	T	TG	T31225145G	NF1	NM_001042492.3(NF1):c.1895dup:p.Cys632fs	coding	Pathogenic
17	31225156	CT	C	T31225157A	NF1	NM_001042492.3(NF1):c.1908del:p.Ser637fs	coding	Pathogenic
17	31225167	AC	A	C31225169A	NF1	NM_001042492.3(NF1):c.1920del:p.Ser641fs	coding	Pathogenic
17	31225177	TGTCC	T	G31225178A	NF1	NM_001042492.3(NF1):c.1929_1932del:p.Met643fs	coding	Pathogenic
17	31225177	T	TG	T31225179G	NF1	NM_001042492.3(NF1):c.1929dup:p.Ser644fs	coding	Pathogenic
17	31225228	AG	A	G31225231A	NF1	NM_001042492.3(NF1):c.1982del:p.Gly661fs	coding	Pathogenic
17	31225231	GAA	G	A31225234G	NF1	NM_001042492.3(NF1):c.1985_1986del:p.Lys662fs	coding	Pathogenic
17	31225231	GA	G	A31225235G	NF1	NM_001042492.3(NF1):c.1986del:p.Asn664fs	coding	Pathogenic/Likely_pathogenic
17	31225231	G	GA	G31225236A	NF1	NM_001042492.3(NF1):c.1986dup:p.Gly663fs	coding	Pathogenic
17	31226318	G	GACACACACACAC	G31226360C	NF1	NM_001042492.3(NF1):c.2002-116AC[26]	noncoding	Benign
17	31226318	G	GACACACACAC	G31226360C	NF1	NM_001042492.3(NF1):c.2002-116AC[25]	noncoding	Benign
17	31226318	G	GACACACAC	G31226360C	NF1	NM_001042492.3(NF1):c.2002-116AC[24]	noncoding	Benign
17	31226318	G	GACACAC	G31226360C	NF1	NM_001042492.3(NF1):c.2002-116AC[23]	noncoding	Benign
17	31226318	G	GACAC	G31226360C	NF1	NM_001042492.3(NF1):c.2002-116AC[22]	noncoding	Benign
17	31226318	G	GAC	G31226360C	NF1	NM_001042492.3(NF1):c.2002-116AC[21]	noncoding	Benign
17	31226432	CAG	C	A31226433G	NF1	NM_001042492.3(NF1):c.2002-2_2002-1del	noncoding	Pathogenic
17	31226441	G	GCAGCAGGA	T31226450C	NF1	NM_001042492.3(NF1):c.2009_2016dup:p.Cys673fs	coding	Pathogenic
17	31226442	C	CA	G31226444A	NF1	NM_001042492.3(NF1):c.2010dup:p.Ala671fs	coding	Pathogenic
17	31226448	GATGCAGCGGAACCCCC	G	A31226449C	NF1	NM_001042492.3(NF1):c.2016_2031del:p.Cys673fs	coding	Pathogenic
17	31226464	C	CCCGATTTG	C31226477T	NF1	NM_001042492.3(NF1):c.2036_2043dup:p.Gln682fs	coding	Pathogenic
17	31226466	CG	A	C31226466A	NF1	NM_001042492.3(NF1):c.2033_2034delinsA:p.Pro678fs	coding	Pathogenic
17	31226467	G	GC	A31226468C	NF1	NM_001042492.3(NF1):c.2034_2035insC:p.Ile679fs	coding	Pathogenic
17	31226512	G	GT	C31226516T	NF1	NM_001042492.3(NF1):c.2082dup:p.Leu695fs	coding	Pathogenic
17	31226512	GT	G	T31226515C	NF1	NM_001042492.3(NF1):c.2082del:p.Leu695fs	coding	Pathogenic
17	31226530	CA	C	A31226531C	NF1	NM_001042492.3(NF1):c.2098del:p.Thr700fs	coding	Pathogenic
17	31226538	CTGTTCTGGTTGCCA	C	T31226542C	NF1	NM_001042492.3(NF1):c.2109_2122del:p.Val705fs	coding	Pathogenic
17	31226543	CT	C	T31226544G	NF1	NM_001042492.3(NF1):c.2111del:p.Leu704fs	coding	Pathogenic
17	31226548	T	TG	C31226550G	NF1	NM_001042492.3(NF1):c.2116dup:p.Ala706fs	coding	Pathogenic
17	31226559	GT	G	T31226562C	NF1	NM_001042492.3(NF1):c.2129del:p.Phe710fs	coding	Pathogenic
17	31226579	GA	G	A31226581G	NF1	NM_001042492.3(NF1):c.2148del:p.Ala717fs	coding	Pathogenic
17	31226589	TC	T	C31226591G	NF1	NM_001042492.3(NF1):c.2158del:p.Arg720fs	coding	Pathogenic
17	31226591	C	CG	T31226594G	NF1	NM_001042492.3(NF1):c.2160dup:p.Cys721fs	coding	Pathogenic
17	31226594	TGTGGG	T	G31226599A	NF1	NM_001042492.3(NF1):c.2166_2170del:p.Gly722_Val723insTer	coding	Pathogenic
17	31226596	T	TG	T31226601G	NF1	NM_001042492.3(NF1):c.2167dup:p.Val723fs	coding	Pathogenic
17	31226606	G	GAAGT	G31226611A	NF1	NM_001042492.3(NF1):c.2174_2177dup:p.His729fs	coding	Pathogenic
17	31226620	TA	T	A31226622C	NF1	NM_001042492.3(NF1):c.2189del:p.Asn730fs	coding	Pathogenic
17	31226622	A	AC	T31226625C	NF1	NM_001042492.3(NF1):c.2191dup:p.Leu731fs	coding	Pathogenic
17	31226651	GA	G	A31226652G	NF1	NM_001042492.3(NF1):c.2219del:p.Glu740fs	coding	Pathogenic
17	31226659	CT	C	T31226660C	NF1	NM_001042492.3(NF1):c.2227del:p.Ser743fs	coding	Pathogenic
17	31226661	CT	C	T31226662G	NF1	NM_001042492.3(NF1):c.2229del:p.Val744fs	coding	Pathogenic
17	31226679	CA	C	A31226681C	NF1	NM_001042492.3(NF1):c.2248del:p.Thr750fs	coding	Pathogenic
17	31226679	C	CA	C31226682A	NF1	NM_001042492.3(NF1):c.2248dup:p.Thr750fs	coding	Pathogenic
17	31226683	AG	A	G31226685T	NF1	NM_001042492.3(NF1):c.2251+1del	coding	Pathogenic
17	31226701	G	GT	A31226710T	NF1	NM_001042492.3(NF1):c.2251+25dup	noncoding	Benign
17	31227233	AG	A	G31227234A	NF1	NM_001042492.3(NF1):c.2268del:p.Arg758fs	coding	Pathogenic
17	31227237	AAG	A	A31227240T	NF1	NM_001042492.3(NF1):c.2274_2275del:p.Arg758fs	coding	Pathogenic
17	31227240	AGT	A	T31227242A	NF1	NM_001042492.3(NF1):c.2276_2277del:p.Val759fs	coding	Pathogenic
17	31227259	CG	C	G31227260C	NF1	NM_001042492.3(NF1):c.2294del:p.Arg765fs	coding	Pathogenic
17	31227260	G	GCATT	G31227265C	NF1	NM_001042492.3(NF1):c.2295_2298dup:p.Glu767delinsHisTer	coding	Pathogenic
17	31227269	A	AGG	T31227270G	NF1	NM_001042492.3(NF1):c.2303_2304insGG:p.His768fs	coding	Pathogenic
17	31227273	CACTGCAGGAA	C	T31227276A	NF1	NM_001042492.3(NF1):c.2310_2319del:p.Ala771fs	coding	Pathogenic
17	31227281	G	GA	C31227285A	NF1	NM_001042492.3(NF1):c.2318dup:p.Asn773fs	coding	Pathogenic
17	31227287	CT	C	T31227288G	NF1	NM_001042492.3(NF1):c.2322del:p.Glu775fs	coding	Pathogenic
17	31227288	T	TGCA	A31227290C	NF1	NM_001042492.3(NF1):c.2323_2324insCAG:p.Thr774_Glu775insAla	coding	Pathogenic
17	31227535	AC	A	C31227536A	NF1	NM_001042492.3(NF1):c.2339del:p.Thr780fs	coding	Pathogenic
17	31227539	AT	A	T31227540G	NF1	NM_001042492.3(NF1):c.2343del:p.His781fs	coding	Pathogenic
17	31227560	CA	C	A31227563G	NF1	NM_001042492.3(NF1):c.2366del:p.Lys789fs	coding	Pathogenic
17	31227569	TC	T	C31227571T	NF1	NM_001042492.3(NF1):c.2374del:p.Asn793fs	coding	Pathogenic
17	31227588	CA	C	A31227592T	NF1	NM_001042492.3(NF1):c.2395del:p.Met799fs	coding	Pathogenic
17	31227600	TG	T	G31227602C	NF1	NM_001042492.3(NF1):c.2405del:p.Gly802fs	coding	Pathogenic
17	31227605	A	AG	T31227608G	NF1	NM_001042492.3(NF1):c.2409+1dup	coding	Pathogenic
17	31227606	GGTAA	C	G31227606C	NF1	NM_001042492.3(NF1):c.2409_2409+4delinsC	coding	Pathogenic
17	31229023	AG	A	G31229025C	NF1	NC_000017.10:g.29556042del	noncoding	Pathogenic
17	31229042	C	CA	G31229045A	NF1	NM_001042492.3(NF1):c.2429dup:p.Thr811fs	coding	Pathogenic
17	31229054	T	TAAGAGGCGAATGTCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTNNNNNNNNNNAAAAAAAAAA	C31229069G	NF1	NM_001042492.3(NF1):c.2453_2454insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTNNNNNNNNNNAAAAAAAAAAAAGAGGCGAATGTC:p.His819fs	coding	Pathogenic
17	31229057	GA	G	A31229058G	NF1	NM_001042492.3(NF1):c.2443del:p.Arg815fs	coding	Pathogenic
17	31229061	CG	C	G31229062A	NF1	NM_001042492.3(NF1):c.2447del:p.Arg816fs	coding	Pathogenic
17	31229064	A	AT	G31229066T	NF1	NM_001042492.3(NF1):c.2450dup:p.Met817fs	coding	Pathogenic
17	31229064	AT	A	T31229065G	NF1	NM_001042492.3(NF1):c.2450del:p.Met817fs	coding	Pathogenic
17	31229101	C	CT	G31229103T	NF1	NM_001042492.3(NF1):c.2487dup:p.Asp830Ter	coding	Pathogenic
17	31229105	CA	C	A31229106C	NF1	NM_001042492.3(NF1):c.2491del:p.Thr831fs	coding	Pathogenic
17	31229138	T	TG	C31229141G	NF1	NM_001042492.3(NF1):c.2525dup:p.Phe843fs	coding	Pathogenic
17	31229156	TG	T	G31229161A	NF1	NM_001042492.3(NF1):c.2546del:p.Gly849fs	coding	Pathogenic
17	31229239	G	GT	C31229242T	NF1	NM_001042492.3(NF1):c.2626dup:p.Ser876fs	coding	Pathogenic
17	31229239	GT	G	T31229241C	NF1	NM_001042492.3(NF1):c.2626del:p.Ser876fs	coding	Pathogenic
17	31229252	A	AGT	A31229256T	NF1	NM_001042492.3(NF1):c.2639_2640dup:p.Met881Ter	coding	Pathogenic
17	31229263	CAGAGGGAA	C	G31229265C	NF1	NM_001042492.3(NF1):c.2650_2657del:p.Glu884fs	coding	Pathogenic
17	31229266	AG	A	G31229269A	NF1	NM_001042492.3(NF1):c.2654del:p.Gly885fs	coding	Pathogenic
17	31229313	T	TC	T31229316C	NF1	NM_001042492.3(NF1):c.2700dup:p.Met902fs	coding	Pathogenic
17	31229319	AT	A	T31229320G	NF1	NM_001042492.3(NF1):c.2705del:p.Met902fs	coding	Pathogenic
17	31229335	AG	A	G31229336A	NF1	NM_001042492.3(NF1):c.2721del:p.Val909fs	coding	Pathogenic
17	31229336	GA	G	A31229339G	NF1	NM_001042492.3(NF1):c.2724del:p.Val909fs	coding	Pathogenic
17	31229341	TG	T	G31229344A	NF1	NM_001042492.3(NF1):c.2729del:p.Gly910fs	coding	Pathogenic
17	31229341	T	TTAGGACTACAAATACGGACCAATGTTAAGGATCTGGTTGGTCTAGAATTGAGTCCTGCTC	G31229342T	NF1	NM_001042492.3(NF1):c.2726_2727insTAGGACTACAAATACGGACCAATGTTAAGGATCTGGTTGGTCTAGAATTGAGTCCTGCTC:p.Val909_Gly910insArgThrThrAsnThrAspGlnCysTer	coding	Pathogenic
17	31229370	GA	G	A31229371T	NF1	NM_001042492.3(NF1):c.2756del:p.Asp919fs	coding	Pathogenic
17	31229414	A	AT	A31229418T	NF1	NM_001042492.3(NF1):c.2802dup:p.Asn935Ter	coding	Pathogenic
17	31229417	T	TAACAAATTGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTAGGGAGGCAGAGGCAGGAGCATCTAGAGAACACGAGAACCAGACCATCATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A31229428G	NF1	NM_001042492.3(NF1):c.2812_2813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTAGGGAGGCAGAGGCAGGAGCATCTAGAGAACACGAGAACCAGACCATCATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAATTGA:p.Lys938delinsArgAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
17	31229429	GA	G	A31229431T	NF1	NM_001042492.3(NF1):c.2816del:p.Asn939fs	coding	Pathogenic
17	31229430	A	AG	A31229431G	NF1	NM_001042492.3(NF1):c.2815_2816insG:p.Asn939fs	coding	Pathogenic
17	31229443	A	AG	T31229445G	NF1	NM_001042492.3(NF1):c.2829dup:p.Phe944fs	coding	Pathogenic
17	31229444	GT	G	T31229450G	NF1	NM_001042492.3(NF1):c.2835del:p.Phe945fs	coding	Pathogenic/Likely_pathogenic
17	31229444	GTT	G	T31229449G	NF1	NM_001042492.3(NF1):c.2834_2835del:p.Phe944_Phe945insTer	coding	Pathogenic
17	31229446	T	TAAAA	T31229447A	NF1	NM_001042492.3(NF1):c.2831_2832insAAAA:p.Phe944fs	coding	Pathogenic
17	31229458	AAGGAC	A	A31229462T	NF1	NM_001042492.3(NF1):c.2847_2850+1del	coding	Pathogenic
17	31229811	TTAATG	T	A31229814T	NF1	NM_001042492.3(NF1):c.2851-21_2851-17del	noncoding	Benign/Likely_benign
17	31229822	GTTCT	G	C31229829A	NF1	NM_001042492.3(NF1):c.2851-6_2851-3del	noncoding	Pathogenic
17	31229835	GT	G	T31229839A	NF1	NM_001042492.3(NF1):c.2855del:p.Leu952fs	coding	Pathogenic
17	31229839	TA	T	A31229840T	NF1	NM_001042492.3(NF1):c.2856del:p.Leu952fs	coding	Pathogenic
17	31229882	T	TA	T31229884A	NF1	NM_001042492.3(NF1):c.2899dup:p.Ile967fs	coding	Pathogenic
17	31229896	T	TG	C31229898G	NF1	NM_001042492.3(NF1):c.2913dup:p.Leu972fs	coding	Pathogenic
17	31229901	GA	G	A31229902T	NF1	NM_001042492.3(NF1):c.2918del:p.Asp973fs	coding	Pathogenic
17	31229903	T	TA	T31229906A	NF1	NM_001042492.3(NF1):c.2921dup:p.Asn974fs	coding	Pathogenic
17	31229918	CA	C	A31229919G	NF1	NM_001042492.3(NF1):c.2935del:p.Ser979fs	coding	Pathogenic
17	31229927	AC	A	C31229928A	NF1	NM_001042492.3(NF1):c.2944del:p.His982fs	coding	Pathogenic
17	31229940	GC	G	C31229941T	NF1	NM_001042492.3(NF1):c.2957del:p.Ala986fs	coding	Pathogenic
17	31229946	AT	A	T31229948G	NF1	NM_001042492.3(NF1):c.2964del:p.Ile988fs	coding	Pathogenic
17	31229969	GGT	G	G31229970C	NF1	NM_001042492.3(NF1):c.2986_2987del:p.Val996fs	coding	Pathogenic
17	31230261	T	TA	T31230263A	NF1	NM_001042492.3(NF1):c.2993dup:p.Tyr998Ter	coding	Pathogenic
17	31230273	C	CT	G31230276T	NF1	NM_001042492.3(NF1):c.3006dup:p.Gly1003fs	coding	Pathogenic
17	31230299	AAT	A	T31230301A	NF1	NM_001042492.3(NF1):c.3032_3033del:p.Ile1011fs	coding	Pathogenic
17	31230314	G	GT	G31230316T	NF1	NM_001042492.3(NF1):c.3046dup:p.Cys1016fs	coding	Pathogenic
17	31230340	CA	C	A31230342G	NF1	NM_001042492.3(NF1):c.3073del:p.Arg1025fs	coding	Pathogenic
17	31230349	ATGACCTC	A	G31230351C	NF1	NM_001042492.3(NF1):c.3082_3088del:p.Asp1028fs	coding	Pathogenic
17	31230353	CCT	C	T31230357A	NF1	NM_001042492.3(NF1):c.3088_3089del:p.Ser1030fs	coding	Pathogenic
17	31230359	AT	A	T31230363G	NF1	NM_001042492.3(NF1):c.3094del:p.Cys1032fs	coding	Pathogenic
17	31230372	AT	A	T31230373G	NF1	NM_001042492.3(NF1):c.3104del:p.Met1035fs	coding	Pathogenic
17	31230374	GA	G	A31230377T	NF1	NM_001042492.3(NF1):c.3108del:p.Lys1036fs	coding	Pathogenic
17	31230383	GTGA	G	T31230384G	NF1	NM_001042492.3(NF1):c.3113+2_3113+4del	coding	Pathogenic
17	31230849	A	AT	G31230851T	NF1	NM_001042492.3(NF1):c.3122dup:p.Met1041fs	coding	Pathogenic
17	31230868	AC	A	C31230869T	NF1	NM_001042492.3(NF1):c.3141del:p.Trp1048fs	coding	Pathogenic
17	31230875	TA	T	A31230876T	NF1	NM_001042492.3(NF1):c.3148del:p.Met1050fs	coding	Pathogenic
17	31230877	TG	T	G31230880A	NF1	NM_001042492.3(NF1):c.3152del:p.Gly1051fs	coding	Pathogenic
17	31230906	GATGTAAA	G	A31230911C	NF1	NM_001042492.3(NF1):c.3183_3189del:p.Lys1062fs	coding	Pathogenic
17	31230910	TA	T	A31230914T	NF1	NM_001042492.3(NF1):c.3186del:p.Lys1062fs	coding	Pathogenic
17	31232043	A	ATT	C31232070T	NF1	NM_001042492.3(NF1):c.3198-5_3198-4dup	noncoding	Benign
17	31232043	AT	A	T31232069C	NF1	NM_001042492.3(NF1):c.3198-4del	noncoding	Benign
17	31232043	ATTTTTTTT	A	T31232062C	NF1	NM_001042492.3(NF1):c.3198-11_3198-4del	noncoding	Benign/Likely_benign
17	31232070	CAG	C	G31232074T	NF1	NM_000267.3(NF1):c.3199_3200delGA	noncoding	Pathogenic
17	31232075	AT	A	T31232078G	NF1	NM_001042492.3(NF1):c.3203del:p.Leu1068fs	coding	Pathogenic
17	31232096	AAG	A	A31232097C	NF1	NM_001042492.3(NF1):c.3222_3223del:p.Glu1074fs	coding	Pathogenic
17	31232104	G	GT	C31232108T	NF1	NM_001042492.3(NF1):c.3232dup:p.Ser1078fs	coding	Pathogenic
17	31232123	TC	T	C31232126T	NF1	NM_001042492.3(NF1):c.3251del:p.Pro1084fs	coding	Pathogenic
17	31232125	CCT	C	C31232128G	NF1	NM_001042492.3(NF1):c.3253_3254del:p.Leu1085fs	coding	Pathogenic
17	31232169	CA	C	A31232172T	NF1	NM_001042492.3(NF1):c.3297del:p.Lys1099fs	coding	Pathogenic
17	31232181	ATTTC	A	T31232184A	NF1	NM_001042492.3(NF1):c.3309_3312del:p.Phe1103fs	coding	Pathogenic
17	31232689	TTATTTCTCAGATACTTCACATTATTTATGAA	T	T31232690C	NF1	NM_001042492.3(NF1):c.3315-10_3335del	noncoding	Pathogenic
17	31232707	AC	A	C31232708A	NF1	NM_001042492.3(NF1):c.3323del:p.Thr1108fs	coding	Pathogenic
17	31232708	C	CA	T31232710A	NF1	NM_001042492.3(NF1):c.3324dup:p.Leu1109fs	coding	Pathogenic
17	31232709	AT	A	T31232711A	NF1	NM_001042492.3(NF1):c.3326del:p.Leu1109fs	coding	Pathogenic
17	31232714	TTATG	T	T31232715A	NF1	NM_001042492.3(NF1):c.3330_3333del:p.Phe1110fs	coding	Pathogenic
17	31232729	ATGAC	A	A31232732C	NF1	NM_001042492.3(NF1):c.3347_3350del:p.Asp1116fs	coding	Pathogenic
17	31232733	CTGCAG	C	C31232736A	NF1	NM_001042492.3(NF1):c.3351_3355del:p.Cys1117_Glu1119delinsTer	coding	Pathogenic
17	31232736	CAG	C	A31232737T	NF1	NM_001042492.3(NF1):c.3352_3353del:p.Cys1117_Ser1118insTer	coding	Pathogenic
17	31232737	AG	A	G31232738T	NF1	NM_001042492.3(NF1):c.3353del:p.Ser1118fs	coding	Pathogenic
17	31232745	T	TG	A31232747G	NF1	NM_001042492.3(NF1):c.3361dup:p.Glu1121fs	coding	Pathogenic
17	31232765	CA	C	A31232766G	NF1	NM_001042492.3(NF1):c.3381del:p.Gly1128fs	coding	Pathogenic
17	31232809	AG	A	G31232811C	NF1	NM_001042492.3(NF1):c.3426del:p.Arg1142fs	coding	Pathogenic
17	31232836	AACTT	A	T31232840C	NF1	NM_001042492.3(NF1):c.3455_3458del:p.Leu1152fs	coding	Pathogenic
17	31232859	CAG	C	A31232860T	NF1	NM_001042492.3(NF1):c.3475_3476del:p.Ser1159fs	coding	Pathogenic
17	31232861	GT	G	T31232862G	NF1	NM_001042492.3(NF1):c.3477del:p.Ser1159fs	coding	Pathogenic
17	31232870	TG	T	G31232871C	NF1	NM_001042492.3(NF1):c.3486del:p.Met1162fs	coding	Pathogenic
17	31233029	CAAGAGCTACATTTATGG	C	A31233033T	NF1	NM_001042492.3(NF1):c.3528_3544del:p.Arg1176fs	coding	Pathogenic
17	31233042	TATGGAAG	T	A31233043T	NF1	NM_001042492.3(NF1):c.3538_3544del:p.Met1180fs	coding	Pathogenic
17	31233055	AC	A	C31233056A	NF1	NM_001042492.3(NF1):c.3551del:p.Thr1184fs	coding	Pathogenic
17	31233056	CA	C	A31233061T	NF1	NM_001042492.3(NF1):c.3556del:p.Ile1186fs	coding	Pathogenic
17	31233061	ATCCTT	A	T31233062C	NF1	NM_001042492.3(NF1):c.3557_3561del:p.Ile1186fs	coding	Pathogenic
17	31233066	TCAACAAGGCACAGAATTTGACA	T	A31233069C	NF1	NM_001042492.3(NF1):c.3564_3585del:p.Gln1188fs	coding	Pathogenic
17	31233066	T	TC	A31233068C	NF1	NM_001042492.3(NF1):c.3562dup:p.Gln1188fs	coding	Pathogenic
17	31233069	AC	A	C31233070A	NF1	NM_001042492.3(NF1):c.3565del:p.Gln1189fs	coding	Pathogenic
17	31233097	GA	G	A31233100C	NF1	NM_001042492.3(NF1):c.3595del:p.Thr1199fs	coding	Pathogenic
17	31233103	GTATTGGCTGA	G	A31233105C	NF1	NM_001042492.3(NF1):c.3600_3609del:p.Leu1201fs	coding	Pathogenic
17	31233105	ATTGGCTGATCGGT	A	G31233109A	NF1	NM_001042492.3(NF1):c.3604_3616del:p.Ala1202fs	coding	Pathogenic
17	31233106	T	TTGGC	A31233113G	NF1	NM_001042492.3(NF1):c.3604_3607dup:p.Asp1203delinsGlyTer	coding	Pathogenic
17	31233110	CTGATCGGT	C	G31233112T	NF1	NM_001042492.3(NF1):c.3607_3614del:p.Ala1202_Asp1203insTer	coding	Pathogenic
17	31233141	C	CA	C31233143A	NF1	NM_001042492.3(NF1):c.3637dup:p.Thr1213fs	coding	Pathogenic
17	31233143	CAA	C	A31233144T	NF1	NM_001042492.3(NF1):c.3639_3640del:p.Met1214fs	coding	Pathogenic
17	31233143	CA	C	A31233145T	NF1	NM_001042492.3(NF1):c.3640del:p.Thr1213_Met1214insTer	coding	Pathogenic
17	31233145	A	AT	G31233147T	NF1	NM_001042492.3(NF1):c.3641dup:p.Met1214fs	coding	Pathogenic
17	31233145	ATGATG	A	T31233146G	NF1	NM_001042492.3(NF1):c.3641_3645del:p.Met1214fs	coding	Pathogenic
17	31233166	CT	C	T31233167C	NF1	NM_001042492.3(NF1):c.3662del:p.Leu1221fs	coding	Pathogenic
17	31233192	T	TGTTCTCA	G31233195T	NF1	NM_001042492.3(NF1):c.3689_3690insTCTCAGT:p.Val1231fs	coding	Pathogenic
17	31233203	G	GT	C31233206T	NF1	NM_001042492.3(NF1):c.3700dup:p.Ser1234fs	coding	Pathogenic
17	31233208	CAGTG	C	A31233209G	NF1	NM_001042492.3(NF1):c.3704_3707del:p.Gln1235fs	coding	Pathogenic
17	31234628	GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCATTTAGTTCAAGTAGCTTTAATTCGTTGAGTTTTATATTAAATGACTTTGAGAAGGAATTTTCTGTTAGGCCAGATCTCACCTACCACATTATTGTAATCCTTGGATCAGGCAAGAATTAGAGAGCTATGAGCCATGATCCTGGCCTTTGTTGTTACTGCTTGAGGATTGAGGCATCTTTTTATGGCTACCCCTATTATCTATAAATTTCTTCTTATCATGTGATTAAACAGTGATTTACCATTAGATCATTTTTTCTTGAGTGTACCCCAAACTGTTTTACTACAGAGAGTTATAAAGGATGTCATTTAGGTAATAGATAGAAATTTCAGCCCTCATCCTTGTGACCCTAGCTTTGTATGTAAATCTGGCTCATCTCTGGGTTCTGAATGCCCAATTCCTTTTCTTCCTGGTTTCTCAAAAATCCTATAGTCTTTCTGTTTTTGTTGTGTCTCTGCCTAGTATATATTCAGTATTCGCTGAGTTCCCCGACTGTATGAGAAGAGAGTAGAACTCTTCTGATCATCAATCTTATTTCTGCTCTGTGCAAATGCTTGTACAAATCAAACTAAATTCTTTGCTGTCATCTTCTGTTTCTGCTCTCTTTCATTTTGTGATGTAATTTGAGCTGAATCTTGGAGATTTTGTCTCCTAGTAAAGCGTAGGCCTCTCTTAATAGCTTTTACCGGTTAATCCTTGGAATTAACAGCTATCATAGACATTGTATATAGTCATCTATCATAAACAATGTACACTGTTAAATCTCAGGATAAATATTAATCAGTCATCATTTGCCTTAATTTAGCAAGTGGTTGTCAACTTTGGGTTTACATTTTTGCTACTCTTTAGCTTCCTACCTAAGAATAAAAATGGGATTGTTTGCACTAACCTGATTTTGTTTTGTTCTCAGGATGAACTAGCTCGAGTTCTGGTTACTCTGTTTGATTCTCGGCATTTACTCTACCAACTGCTCTGGAACATGTTTTCTAAAGAAGTAGAATTGGCAGACTCCATGCAGACTCTCTTCCGAGGCAACAGCTTGGCCAGTAAAATAATGACATTCTGTTTCAAGGTTTGTATCATTCATTTTGTGTGTATGTGTGTGCTGAGGTATGTCAAGTAATGATTATGTACAGAATGTGCAGGGCTGATTGTCTTCTTTTAAGGTAAAATATATGGAGCAGGTATAATAAACTCCTATTCGTGCATTTCTGTAGGTATATGGTGCTACCTATCTACAAAAACTCCTGGATCCTTTATTACGAATTGTGATCACATCCTCTGATTGGCAACATGTTAGCTTTGAAGTGGATCCTACCAGGTTTGTCATCTTTTCACATAGAACCGCTGTTTTTTGTTTTTTTTTTTTTGTTTGTTTGTTTTACTAACACTGCATGAAGCAAGGCACCTTCTCCCCTTGATCATTAAAATTAGTTTTTAATTATAAAAGTTATATACAAATACACGTTTCTTTAATGATATCTGTAATTTTTTTTTAAGGTATCCTTTTATTTGCCTTAGATCCAGGGACAAACTAGAGAAAGGTGTCTTTGACTTCCACCTCCAGAGACTGTTACTAGTTAAGTCTGTTCCCCTGTCCTTTTTCCATGCATTTACATATTCATATGCAGTCACTTGCATGCATACTCTTTTTCTAACTCACTTCTTCTATGATGAGGAGTGACTTAGGAGAAGGGAAAGAGGCTAATAGGTAATGCAGGCTGCAGTTTATTTATTTGTCATTTTTTTAAAAATTTGAGACAGAGTCTCACTCTGCCATTCAGGCTGGGGTGCACTGGCGCAGTCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCGTGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGGTAATTTTTTTTTTTTTTTTGTATTTTTAATAGAGATGGTGTTTCACCATCTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCCTGGCCTCCAAAAATACTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCAGAGTGCAGTTTAAACCACCATTTCTGTGAAGCTTTCTCTGCTTGTTACCAGGTACTACCCACGAACAAAGAAATATGCTTTGTTCTGTGCTGTGCACCACCATTGTAACAATTGTGACGATTTATGAGTTTCTCTCTCCTCTAGACTGTTTGCTCTTTTACATTTTTACATCTTTATATCCTTCCATGAATATTTAGCATGGTGTCTGCCTTATAGTGAACATTTTATAAATATTTGTTAAGTGAATGAATTTTAACGGAATATCTTATGCTTGCTTTTTCTAAGCCACATGTTAAGATGTTCTTGTCTGTCTTTCAGTTAGGACTTTATTTTTTACTTTTAAGTTCAGAGCTTCTTGATGATTGTTCTTCCTAAATAATCATTATTTAGCAACTGTGTATCAGTTGATATTTTTGGCTCTGCATTTGCTGAAGTATCAACTGTAATATCTATTCAGAACTCCAGCACTAAGCCAATTTTTGTTAAAATAGTTAAAAACTTAAAAGCAATTTTTATATTTTTATTTACTTCTTATTTTTTGAAATGGGGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGCACCATCTCGGCTCACTGCAACCTTCCTGTGCAGGACTCAAGCGATTCTCCCATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCAAAATACAAAATTTTTGTATTTTGGTAGAGACGAGGTTTTGCCTTGTTGCCCAGGCTGGTCTCAAACTCCTAGACTAAAGAGATCCACATGCTGTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACGCCTGGCCAAAGCAATGTTTTGTAAAGCCTTGTATTTTCTTGCCATTAAGCACTTTCAGTTTTTTTCTTGACAACTTCTCATGTCTACTTTTTTTTTTTTTTTTTGCAATTTTCAAGTGTACATAATACATTATTACGGATTTTATGTTAATTTTGTGCCCTACAATTTTACTGAATCTTATTATTAAGCAATTTTACTTTCTAAAGGTTAAAGAATTACTTAGAGAGTGAACCAGCTGCTTCAAATAAGTTTACTATACAAAGTGCTGTGGTCCAGATAAGAGAACTAGATGGCAAACAATATACTCAGGTTGCTTAAAATCAAACTGAGGCCCACTCTGACATGTCAAGAGCTTGAAAGTCAACACTCCTGTGTTCACAACATGAAAAAAGCTAAAAAACTGAAAATCAGCAGCTCTTAGATCCATCAGAGAATTTAAGTCCACTCCAAAAACTGGAGAGACAGGTAAATGTATACAGAGAATCACAGTTTACCAGGAGAAGAAGCTGCTGGAGCCAGTAACTGGTAGGAAAGCTTAGATCATAATTGACGAGTTGCTGGAGGCTGAGCATGGAGTGCCTAGAGAGTTAAAACTCCTAGGGGCCTAGTCTTGCAGGGACCCCTGCACCTTTGTAAGTTTTACCTCCAGAAGCCTCATCAGGCTCTCATGGTGAAGATAGGAGAAAAATCCCTTTATGCTTTGGGCAGGGGAAGGGGAAAAGTAGCCATTTTTAAATATGACCACAGTGTTCTGTTATCCCTAGCAAAGGTTTGCCCTCAGGAGAAATTACTTTACCAGAGCTTTATTTGACTTAGAAGTTAGCCACCTCCAGCCCCCTCTAGCGTTTCTGTAAGAAGAGAGAAAAGGCTAAGAAACTCTTTGAGTCTGGCCTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAAGTCAGGAGATCGAGACCATACTGTCTAACATGGTGAAACCCTGTCTTTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTTGCA	G	C31234670A	NF1	NM_001042492.3(NF1):c.3709-941_3974+2711del	noncoding	Pathogenic
17	31235629	CTGGTT	C	T31235630A	NF1	NM_001042492.3(NF1):c.3728_3732del:p.Leu1243fs	coding	Pathogenic
17	31235631	GGTTACTCT	G	A31235635T	NF1	NM_001042492.3(NF1):c.3733_3740del:p.Val1244_Thr1245insTer	coding	Pathogenic
17	31235639	TG	T	G31235640T	NF1	NM_001042492.3(NF1):c.3738del:p.Phe1247fs	coding	Pathogenic
17	31235661	C	CT	A31235663T	NF1	NM_001042492.3(NF1):c.3760dup:p.Tyr1254fs	coding	Pathogenic
17	31235665	C	CTA	A31235666T	NF1	NM_001042492.3(NF1):c.3763_3764insTA:p.Gln1255fs	coding	Pathogenic
17	31235674	TG	T	G31235676A	NF1	NM_001042492.3(NF1):c.3774del:p.Leu1257_Trp1258insTer	coding	Pathogenic
17	31235679	CA	C	A31235680T	NF1	NM_001042492.3(NF1):c.3778del:p.Met1260fs	coding	Pathogenic
17	31235688	TA	T	A31235691G	NF1	NM_001042492.3(NF1):c.3789del:p.Glu1264fs	coding	Pathogenic
17	31235688	T	TAAAGAAGTAGAATTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	C31235705G	NF1	NM_001042492.3(NF1):c.3802_3803insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTAGAATTGG:p.Leu1267_Ala1268insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluValGluLeu	coding	Pathogenic
17	31235692	GAA	G	A31235693G	NF1	NM_001042492.3(NF1):c.3791_3792del:p.Glu1264fs	coding	Pathogenic
17	31235700	AT	A	T31235702G	NF1	NM_001042492.3(NF1):c.3800del:p.Leu1267fs	coding	Pathogenic
17	31235716	CAG	C	G31235718C	NF1	NM_001042492.3(NF1):c.3816_3817del:p.Gln1272fs	coding	Pathogenic
17	31235724	C	CG	T31235725G	NF1	NM_001042492.3(NF1):c.3822_3823insG:p.Phe1275fs	coding	Pathogenic
17	31235765	GT	G	T31235768C	NF1	NM_001042492.3(NF1):c.3866del:p.Phe1289fs	coding	Pathogenic
17	31235768	T	TACCC	C31235769A	NF1	NM_001042492.3(NF1):c.3866_3867insACCC:p.Phe1289fs	coding	Pathogenic
17	31235770	A	AAGT	G31235773T	NF1	NM_001042492.3(NF1):c.3870_3871insTAG:p.Val1291Ter	coding	Pathogenic
17	31235932	C	CTA	C31235936A	NF1	NM_001042492.3(NF1):c.3887_3888dup:p.Leu1297fs	coding	Pathogenic
17	31235938	AC	A	C31235939A	NF1	NM_001042492.3(NF1):c.3892del:p.Gln1298fs	coding	Pathogenic
17	31235944	AC	A	C31235945T	NF1	NM_001042492.3(NF1):c.3898del:p.Leu1300fs	coding	Pathogenic
17	31235982	CTGAT	C	A31235985G	NF1	NM_001042492.3(NF1):c.3938_3941del:p.Asp1313fs	coding	Pathogenic
17	31235985	AT	A	T31235987G	NF1	NM_001042492.3(NF1):c.3940del:p.Trp1314fs	coding	Pathogenic
17	31236011	GA	G	A31236012T	NF1	NM_001042492.3(NF1):c.3965del:p.Asp1322fs	coding	Pathogenic
17	31236013	TC	T	C31236015T	NF1	NM_001042492.3(NF1):c.3968del:p.Pro1323fs	coding	Pathogenic
17	31236016	TA	T	A31236017C	NF1	NM_001042492.3(NF1):c.3970del:p.Thr1324fs	coding	Pathogenic
17	31236057	G	GT	G31236071T	NF1	NM_001042492.3(NF1):c.3974+49dup	noncoding	Benign
17	31236058	T	TG	T31236059G	NF1	NM_001042492.3(NF1):c.3974+37_3974+38insG	noncoding	Benign
17	31236067	T	TG	T31236068G	NF1	NM_001042492.3(NF1):c.3974+46_3974+47insG	noncoding	Benign
17	31248972	ATT	A	T31248978G	NF1	NM_001042492.3(NF1):c.3975-6_3975-5del	noncoding	Benign
17	31248999	GA	G	A31249000G	NF1	NM_001042492.3(NF1):c.3991del:p.Ser1331fs	coding	Pathogenic
17	31249009	GA	G	A31249013C	NF1	NM_001042492.3(NF1):c.4004del:p.Asn1335fs	coding	Pathogenic
17	31249009	G	GA	C31249014A	NF1	NM_001042492.3(NF1):c.4004dup:p.Asn1335fs	coding	Pathogenic
17	31249046	TC	T	C31249047T	NF1	NM_001042492.3(NF1):c.4038del:p.Phe1347fs	coding	Pathogenic
17	31249109	GTT	G	T31249111A	NF1	NM_001042492.3(NF1):c.4102_4103del:p.Leu1368fs	coding	Pathogenic
17	31249111	T	TTA	C31249116T	NF1	NM_001042492.3(NF1):c.4105_4106dup:p.Gln1370fs	coding	Pathogenic
17	31249117	CA	C	A31249118G	NF1	NM_001042492.3(NF1):c.4109del:p.Gln1370fs	coding	Pathogenic
17	31258333	CTTG	C	G31258336T	NF1	NM_001042492.3(NF1):c.4174-8_4174-6del	noncoding	Benign/Likely_benign
17	31258349	TAGCC	T	C31258353G	NF1	NM_001042492.3(NF1):c.4183_4186del:p.Gln1395fs	coding	Pathogenic
17	31258355	G	GCGTTTCC	T31258364G	NF1	NM_001042492.3(NF1):c.4187_4193dup:p.Gln1399fs	coding	Pathogenic
17	31258357	G	GT	C31258361T	NF1	NM_001042492.3(NF1):c.4190dup:p.Gln1399fs	coding	Pathogenic
17	31258360	T	TC	T31258364C	NF1	NM_001042492.3(NF1):c.4193dup:p.Gln1399fs	coding	Pathogenic
17	31258364	TC	T	C31258365A	NF1	NM_001042492.3(NF1):c.4195del:p.Gln1399fs	coding	Pathogenic
17	31258375	T	TC	G31258377C	NF1	NM_001042492.3(NF1):c.4206dup:p.Gly1403fs	coding	Pathogenic
17	31258376	CG	C	G31258378T	NF1	NM_001042492.3(NF1):c.4208del:p.Gly1403fs	coding	Pathogenic/Likely_pathogenic
17	31258376	CGGTGCAGTAGGAA	C	G31258378T	NF1	NM_001042492.3(NF1):c.4208_4220del:p.Gly1403fs	coding	Pathogenic
17	31258384	TA	T	A31258385G	NF1	NM_001042492.3(NF1):c.4215del:p.Gly1406fs	coding	Pathogenic
17	31258385	AG	A	G31258387A	NF1	NM_001042492.3(NF1):c.4217del:p.Gly1406fs	coding	Pathogenic
17	31258399	TC	T	C31258401T	NF1	NM_001042492.3(NF1):c.4231del:p.Leu1411fs	coding	Pathogenic
17	31258405	GAT	G	A31258406T	NF1	NM_001042492.3(NF1):c.4236_4237del:p.Arg1412fs	coding	Pathogenic
17	31258446	A	AT	A31258451T	NF1	NM_001042492.3(NF1):c.4280dup:p.Leu1427fs	coding	Pathogenic
17	31258446	AT	A	T31258450A	NF1	NM_001042492.3(NF1):c.4280del:p.Ile1426_Leu1427insTer	coding	Pathogenic
17	31258454	T	TAAAAAGCCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A31258463G	NF1	NM_001042492.3(NF1):c.4292_4293insGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCC:p.Pro1431_Pro1432insAlaGlyArgSerGlySerArgLeuTer	coding	Pathogenic
17	31258473	ATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAAATTCCCCTTCCAACTAAATTTTCAGCTTTTCTTACAGTACTTCCTCTTACATTTATATTTGAAATACCCTATGGTTTTCAGTTATGTGCTTTTGTTTTATTTGTTTATATTACAAAGGAATTCATTAGTTAGGTACCTGATGGACCTTATTTTCATGATAAAACATTTTATTATAGCAGATGTCTTGTGTTATGAAGATCATTTTTTGCGTAATCATTCTAGACATTCTGAAACAGACTAGAATGTAGACTATAGGAT	GGA	A31258473G	NF1	NM_001042492.3(NF1):c.4303_4333-241delinsGGA	coding	Pathogenic
17	31258479	AG	A	G31258483C	NF1	NM_001042492.3(NF1):c.4313del:p.Gly1438fs	coding	Pathogenic
17	31258496	GT	G	T31258497C	NF1	NM_001042492.3(NF1):c.4327del:p.Ser1443fs	coding	Pathogenic
17	31259032	A	AT	A31259034T	NF1	NM_001042492.3(NF1):c.4334dup:p.Leu1446fs	coding	Pathogenic
17	31259053	CA	C	A31259054T	NF1	NM_001042492.3(NF1):c.4355del:p.His1452fs	coding	Pathogenic
17	31259061	CTTCACAAAAGAAGAACA	C	T31259063A	NF1	NM_001042492.3(NF1):c.4364_4380del:p.Phe1455fs	coding	Pathogenic
17	31259066	CAAAAG	C	A31259069G	NF1	NM_001042492.3(NF1):c.4370_4374del:p.Lys1457fs	coding	Pathogenic
17	31259068	AAAG	A	G31259074C	NF1	NM_001042492.3(NF1):c.4372GAA[1]:p.Glu1459del	coding	Pathogenic/Likely_pathogenic
17	31259072	AAGAACATATGCGGCCTTTCAATGATTTTGTGAAAAGCAACTTTGATGCAGCACGCAGGTAATTTTCTTGCCACTTAC	GCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA	A31259072G	NF1	NM_001042492.3(NF1):c.4373_4430+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA	coding	Pathogenic
17	31259085	GC	G	C31259087T	NF1	NM_001042492.3(NF1):c.4388del:p.Pro1463fs	coding	Pathogenic
17	31259100	TG	T	G31259101T	NF1	NM_001042492.3(NF1):c.4402del:p.Phe1467_Val1468insTer	coding	Pathogenic
17	31259108	GC	G	C31259109A	NF1	NM_001042492.3(NF1):c.4410del:p.Ser1470fs	coding	Pathogenic
17	31259118	T	TG	C31259120G	NF1	NM_001042492.3(NF1):c.4420dup:p.Ala1474fs	coding	Pathogenic
17	31260369	GTT	G	T31260373C	NF1	NM_001042492.3(NF1):c.4435_4436del:p.Phe1479fs	coding	Pathogenic
17	31260370	T	TAA	T31260371A	NF1	NM_001042492.3(NF1):c.4432_4433insAA:p.Phe1478Ter	coding	Pathogenic
17	31260381	T	TA	T31260383A	NF1	NM_001042492.3(NF1):c.4444dup:p.Ile1482fs	coding	Pathogenic
17	31260395	GT	AA	G31260395A	NF1	NM_001042492.3(NF1):c.4457_4458delinsAA:p.Cys1486Ter	coding	Pathogenic
17	31260415	AATCATAGT	A	A31260416C	NF1	NM_001042492.3(NF1):c.4478_4485del:p.Asn1493fs	coding	Pathogenic
17	31260421	A	AC	G31260422C	NF1	NM_001042492.3(NF1):c.4483_4484insC:p.Ser1495fs	coding	Pathogenic
17	31260422	GTCTT	G	T31260425C	NF1	NM_001042492.3(NF1):c.4487_4490del:p.Leu1496fs	coding	Pathogenic
17	31260443	G	GC	A31260445C	NF1	NM_001042492.3(NF1):c.4506dup:p.Asn1503fs	coding	Pathogenic
17	31260446	A	AT	G31260448T	NF1	NM_001042492.3(NF1):c.4509dup:p.Val1504fs	coding	Pathogenic
17	31260447	TG	T	G31260448T	NF1	NM_001042492.3(NF1):c.4510del:p.Val1504fs	coding	Pathogenic
17	31260451	CT	C	T31260453G	NF1	NM_001042492.3(NF1):c.4515del:p.Ala1506fs	coding	Pathogenic
17	31260455	CT	C	T31260458A	NF1	NM_001042492.3(NF1):c.4520del:p.Leu1507fs	coding	Pathogenic/Likely_pathogenic
17	31260498	G	GT	A31260500T	NF1	NM_001042492.3(NF1):c.4561dup:p.Tyr1521fs	coding	Pathogenic
17	31260498	GT	G	T31260499A	NF1	NM_001042492.3(NF1):c.4561del:p.Tyr1521fs	coding	Pathogenic
17	31260500	AT	A	T31260501C	NF1	NM_001042492.3(NF1):c.4563del:p.Leu1522fs	coding	Pathogenic
17	31261717	T	TA	G31261721A	NF1	NM_001042492.3(NF1):c.4587dup:p.Ala1530fs	coding	Pathogenic
17	31261724	GT	G	T31261726G	NF1	NM_001042492.3(NF1):c.4593del:p.Gly1532fs	coding	Pathogenic
17	31261728	GA	G	A31261730G	NF1	NM_001042492.3(NF1):c.4597del:p.Arg1533fs	coding	Pathogenic
17	31261737	CT	C	T31261741G	NF1	NM_001042492.3(NF1):c.4608del:p.Phe1536fs	coding	Pathogenic
17	31261770	TGG	T	G31261772T	NF1	NM_001042492.3(NF1):c.4639_4640del:p.Gly1547fs	coding	Pathogenic
17	31261770	TG	T	G31261773T	NF1	NM_001042492.3(NF1):c.4640del:p.Gly1547fs	coding	Pathogenic
17	31261789	AC	A	C31261791T	NF1	NM_001042492.3(NF1):c.4658del:p.Pro1553fs	coding	Pathogenic/Likely_pathogenic
17	31261818	T	TTA	A31261821T	NF1	NM_001042492.3(NF1):c.4686_4687dup:p.Asn1563fs	coding	Pathogenic
17	31261823	C	CT	A31261826T	NF1	NM_001042492.3(NF1):c.4692dup:p.Thr1565fs	coding	Pathogenic
17	31261825	T	TAA	C31261827A	NF1	NM_001042492.3(NF1):c.4693_4694insAA:p.Thr1565fs	coding	Pathogenic
17	31261826	AC	A	C31261828A	NF1	NM_001042492.3(NF1):c.4695del:p.Ser1566fs	coding	Pathogenic
17	31261828	CA	C	A31261829G	NF1	NM_001042492.3(NF1):c.4696del:p.Ser1566fs	coding	Pathogenic
17	31261837	GT	G	T31261840G	NF1	NM_001042492.3(NF1):c.4707del:p.Phe1569fs	coding	Pathogenic
17	31261852	GA	G	A31261853C	NF1	NM_001042492.3(NF1):c.4720del:p.Thr1574fs	coding	Pathogenic
17	31265222	C	CT	A31265227T	NF1	NM_001042492.3(NF1):c.4725-3dup	noncoding	Benign
17	31265253	AT	A	T31265255C	NF1	NM_001042492.3(NF1):c.4751del:p.Phe1584fs	coding	Pathogenic
17	31265254	TTCA	T	T31265255A	NF1	NM_001042492.3(NF1):c.4751_4753del:p.Phe1584_Lys1585delinsTer	coding	Pathogenic
17	31265261	CT	C	T31265264G	NF1	NM_001042492.3(NF1):c.4760del:p.Ala1586_Leu1587insTer	coding	Pathogenic
17	31265273	TAA	T	A31265274G	NF1	NM_001042492.3(NF1):c.4770_4771del:p.Ser1591fs	coding	Pathogenic
17	31265274	AA	T	A31265274T	NF1	NM_001042492.3(NF1):c.4770_4771delinsT:p.Leu1590fs	coding	Pathogenic
17	31265327	AT	A	T31265328G	NF1	NM_001042492.3(NF1):c.4824del:p.Tyr1607_Tyr1608insTer	coding	Pathogenic
17	31325817	TAGG	T	A31325818T	NF1	NM_001042492.3(NF1):c.4836-2_4836del	noncoding	Pathogenic
17	31325820	GTTCA	G	T31325821A	NF1	NM_001042492.3(NF1):c.4837_4840del:p.Phe1613fs	coding	Pathogenic
17	31325838	CA	C	A31325840T	NF1	NM_001042492.3(NF1):c.4856del:p.Asn1619fs	coding	Pathogenic
17	31325840	AT	A	T31325841G	NF1	NM_001042492.3(NF1):c.4857del:p.Asn1619fs	coding	Pathogenic
17	31325861	A	AT	G31325863T	NF1	NM_001042492.3(NF1):c.4878dup:p.Val1627fs	coding	Pathogenic
17	31325861	AT	A	T31325862G	NF1	NM_001042492.3(NF1):c.4878del:p.His1626fs	coding	Pathogenic
17	31325865	C	CT	A31325868T	NF1	NM_001042492.3(NF1):c.4883dup:p.Leu1628fs	coding	Pathogenic
17	31325869	C	CT	G31325871T	NF1	NM_001042492.3(NF1):c.4886dup:p.Thr1630fs	coding	Pathogenic
17	31325901	T	TGAAATTGTAGTGGACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T31325918G	NF1	NM_001042492.3(NF1):c.4933_4934insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTGTAGTGGACC:p.Leu1645delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
17	31325911	GT	G	T31325912G	NF1	NM_001042492.3(NF1):c.4928del:p.Val1643fs	coding	Pathogenic
17	31325926	AC	A	C31325928G	NF1	NM_001042492.3(NF1):c.4944del:p.Pro1650fs	coding	Pathogenic
17	31325928	C	CG	C31325932G	NF1	NM_001042492.3(NF1):c.4947dup:p.Pro1650fs	coding	Pathogenic
17	31325928	CG	C	G31325931C	NF1	NM_001042492.3(NF1):c.4947del:p.Pro1650fs	coding	Pathogenic/Likely_pathogenic
17	31325937	CA	C	A31325939T	NF1	NM_001042492.3(NF1):c.4955del:p.Asn1652fs	coding	Pathogenic
17	31325951	CA	C	A31325952G	NF1	NM_001042492.3(NF1):c.4968del:p.Asp1657fs	coding	Pathogenic
17	31325955	CTT	C	T31325957C	NF1	NM_001042492.3(NF1):c.4973_4974del:p.Phe1658fs	coding	Pathogenic
17	31325958	TC	T	C31325959T	NF1	NM_001042492.3(NF1):c.4975del:p.Leu1659fs	coding	Pathogenic
17	31325963	C	CT	A31325965T	NF1	NM_001042492.3(NF1):c.4980dup:p.Lys1661Ter	coding	Pathogenic
17	31325988	C	CTT	G31325992T	NF1	NM_001042492.3(NF1):c.5006_5007dup:p.Ala1670fs	coding	Pathogenic
17	31325995	T	TA	C31325997A	NF1	NM_001042492.3(NF1):c.5012dup:p.Tyr1671Ter	coding	Pathogenic
17	31325999	AC	A	C31326000A	NF1	NM_001042492.3(NF1):c.5016del:p.Asp1672fs	coding	Pathogenic
17	31326004	G	GTCTC	C31326009T	NF1	NM_001042492.3(NF1):c.5021_5024dup:p.Ala1676fs	coding	Pathogenic
17	31326018	TA	T	A31326019T	NF1	NM_001042492.3(NF1):c.5035del:p.Ile1679fs	coding	Pathogenic
17	31326023	A	AT	A31326025T	NF1	NM_001042492.3(NF1):c.5040dup:p.Asn1681Ter	coding	Pathogenic
17	31326024	T	TA	C31326027A	NF1	NM_001042492.3(NF1):c.5042dup:p.Asn1681fs	coding	Pathogenic
17	31326027	CTG	C	G31326029A	NF1	NM_001042492.3(NF1):c.5045_5046del:p.Asn1681_Cys1682insTer	coding	Pathogenic/Likely_pathogenic
17	31326029	GT	G	T31326030A	NF1	NM_001042492.3(NF1):c.5046del:p.Asn1681_Cys1682insTer	coding	Pathogenic
17	31326046	G	GAGTA	C31326051A	NF1	NM_001042492.3(NF1):c.5063_5066dup:p.Tyr1689Ter	coding	Pathogenic
17	31326073	C	CT	G31326075T	NF1	NM_001042492.3(NF1):c.5090dup:p.Thr1698fs	coding	Pathogenic
17	31326097	A	AG	C31326100G	NF1	NM_001042492.3(NF1):c.5115dup:p.Leu1706fs	coding	Pathogenic
17	31326099	G	GCA	T31326101A	NF1	NM_001042492.3(NF1):c.5116_5117insAC:p.Leu1706fs	coding	Pathogenic
17	31326101	TTGTTTTCA	T	G31326103A	NF1	NM_001042492.3(NF1):c.5119_5126del:p.Val1707fs	coding	Pathogenic
17	31326117	TCC	T	C31326118T	NF1	NM_001042492.3(NF1):c.5134_5135del:p.Pro1712fs	coding	Pathogenic
17	31326117	TC	T	C31326119T	NF1	NM_001042492.3(NF1):c.5135del:p.Pro1712fs	coding	Pathogenic
17	31326141	AG	A	G31326142A	NF1	NM_001042492.3(NF1):c.5158del:p.Glu1720fs	coding	Pathogenic
17	31326156	GA	G	A31326159C	NF1	NM_001042492.3(NF1):c.5175del:p.Lys1725fs	coding	Pathogenic
17	31326169	GCCACC	G	C31326170T	NF1	NM_001042492.3(NF1):c.5186_5190del:p.Ala1729fs	coding	Pathogenic
17	31326170	C	CG	C31326171G	NF1	NM_001042492.3(NF1):c.5186_5187insG:p.Thr1730fs	coding	Pathogenic
17	31326182	T	TAGAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	G31326189C	NF1	NM_001042492.3(NF1):c.5199_5204AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1]:p.Glu1735delinsAspHisProGlyTer	coding	Pathogenic
17	31326198	G	GAA	G31326199A	NF1	NM_001042492.3(NF1):c.5214_5215insAA:p.Val1739fs	coding	Pathogenic
17	31326228	CAA	C	A31326230G	NF1	NM_001042492.3(NF1):c.5246_5247del:p.Lys1749fs	coding	Pathogenic
17	31326228	C	CA	G31326232A	NF1	NM_001042492.3(NF1):c.5247dup:p.Asp1750fs	coding	Pathogenic/Likely_pathogenic
17	31326234	C	CA	C31326236A	NF1	NM_001042492.3(NF1):c.5251dup:p.Thr1751fs	coding	Pathogenic
17	31326237	CAA	C	A31326239G	NF1	NM_001042492.3(NF1):c.5255_5256del:p.Lys1752fs	coding	Pathogenic
17	31326237	CA	C	A31326240G	NF1	NM_001042492.3(NF1):c.5256del:p.Val1753fs	coding	Pathogenic
17	31326241	GTT	G	T31326243C	NF1	NM_001042492.3(NF1):c.5259_5260del:p.Ser1754fs	coding	Pathogenic
17	31326244	TC	T	C31326245T	NF1	NM_001042492.3(NF1):c.5261del:p.Ser1754fs	coding	Pathogenic
17	31326245	CTATTAAA	C	T31326246G	NF1	NM_001042492.3(NF1):c.5262_5268del:p.Ile1755fs	coding	Pathogenic
17	31326247	A	ATT	A31326250T	NF1	NM_001042492.3(NF1):c.5264_5265dup:p.Lys1756fs	coding	Pathogenic
17	31326249	TAA	T	A31326251G	NF1	NM_001042492.3(NF1):c.5267_5268del:p.Lys1756fs	coding	Pathogenic
17	31326252	AG	A	G31326253T	NF1	NM_001042492.3(NF1):c.5268+1del	coding	Pathogenic
17	31326252	AG	CA	A31326252C	NF1	NM_001042492.3(NF1):c.5268_5268+1delinsCA	coding	Pathogenic
17	31326254	TA	T	A31326256G	NF1	NM_001042492.3(NF1):c.5268+4del	noncoding	Pathogenic
17	31327502	G	GGTTC	T31327507G	NF1	NM_001042492.3(NF1):c.5273_5276dup:p.Thr1760fs	coding	Pathogenic
17	31327515	TC	T	C31327517A	NF1	NM_001042492.3(NF1):c.5287del:p.Gln1763fs	coding	Pathogenic
17	31327519	AG	A	G31327520T	NF1	NM_001042492.3(NF1):c.5290del:p.Gln1763_Val1764insTer	coding	Pathogenic
17	31327536	GA	G	A31327538C	NF1	NM_001042492.3(NF1):c.5308del:p.Thr1770fs	coding	Pathogenic
17	31327539	CAA	C	A31327542G	NF1	NM_001042492.3(NF1):c.5312_5313del:p.Lys1771fs	coding	Pathogenic
17	31327539	CA	C	A31327543G	NF1	NM_001042492.3(NF1):c.5313del:p.Val1772fs	coding	Pathogenic
17	31327547	CTA	C	T31327548G	NF1	NM_001042492.3(NF1):c.5318_5319del:p.Leu1773fs	coding	Pathogenic
17	31327558	AG	A	G31327559T	NF1	NM_001042492.3(NF1):c.5329del:p.Val1777fs	coding	Pathogenic/Likely_pathogenic
17	31327561	CT	C	T31327564C	NF1	NM_001042492.3(NF1):c.5334del:p.Phe1778_Leu1779insTer	coding	Pathogenic
17	31327584	CT	C	T31327586C	NF1	NM_001042492.3(NF1):c.5356del:p.Ser1786fs	coding	Pathogenic
17	31327604	T	TGCCTAGTAGATGAGAACCAGTTCACCTTAACCATTGCAAACCAGGGCAC	G31327657T	NF1	NM_001042492.3(NF1):c.5378_5426dup:p.Pro1809_Leu1810insSerArgTer	coding	Pathogenic
17	31327618	GA	G	A31327620C	NF1	NM_001042492.3(NF1):c.5390del:p.Asn1797fs	coding	Pathogenic
17	31327628	AC	A	C31327630T	NF1	NM_001042492.3(NF1):c.5400del:p.Thr1800_Leu1801insTer	coding	Pathogenic
17	31327637	AT	A	T31327639G	NF1	NM_001042492.3(NF1):c.5409del:p.Ile1803fs	coding	Pathogenic
17	31327644	A	AC	A31327647C	NF1	NM_001042492.3(NF1):c.5416dup:p.Gln1806fs	coding	Pathogenic
17	31327688	A	AT	G31327691T	NF1	NM_001042492.3(NF1):c.5460dup:p.Val1821fs	coding	Pathogenic
17	31327700	ATCAT	A	T31327705A	NF1	NM_001042492.3(NF1):c.5475_5478del:p.His1826fs	coding	Pathogenic
17	31327701	TCATTCATATCCGGACCCGCTGGGAACTGTCACAG	T	A31327703C	NF1	NM_001042492.3(NF1):c.5473_5506del:p.Ile1825fs	coding	Pathogenic
17	31327714	GA	G	A31327715C	NF1	NM_001042492.3(NF1):c.5485del:p.Thr1829fs	coding	Pathogenic
17	31327724	GA	G	A31327726C	NF1	NM_001042492.3(NF1):c.5496del:p.Glu1832fs	coding	Pathogenic
17	31327726	ACT	A	C31327727G	NF1	NM_001042492.3(NF1):c.5497_5498del:p.Leu1833fs	coding	Pathogenic
17	31327730	T	TCACAGCCCGACTCTATCCCCCAACACAC	A31327761C	NF1	NM_001042492.3(NF1):c.5503_5530dup:p.Lys1844fs	coding	Pathogenic
17	31327740	ACT	A	C31327743A	NF1	NM_001042492.3(NF1):c.5513_5514del:p.Ser1838fs	coding	Pathogenic
17	31327743	CTA	C	A31327745C	NF1	NM_001042492.3(NF1):c.5515_5516del:p.Ile1839fs	coding	Pathogenic
17	31327746	TC	T	C31327751A	NF1	NM_001042492.3(NF1):c.5521del:p.Gln1841fs	coding	Pathogenic
17	31327752	AAC	A	A31327757C	NF1	NM_001042492.3(NF1):c.5527_5528del:p.Thr1843fs	coding	Pathogenic
17	31327770	CA	C	A31327774G	NF1	NM_001042492.3(NF1):c.5544del:p.Asp1849fs	coding	Pathogenic
17	31327795	CA	C	A31327797T	NF1	NM_001042492.3(NF1):c.5567del:p.Asn1856fs	coding	Pathogenic
17	31327810	T	TA	T31327813A	NF1	NM_001042492.3(NF1):c.5582dup:p.Asn1861fs	coding	Pathogenic
17	31327826	GA	G	A31327827C	NF1	NM_001042492.3(NF1):c.5597del:p.Asp1866fs	coding	Pathogenic
17	31328174	AGTTTAAAAGTCAAGTCAGATTATTGCTTTACAAAAGAAGGCCTAATGTTCAATAACTTGGTAACATTATTGCATACTTTCCACCTACATCACTCTTAACAAAATTCTCAAAATAAATCTTAAGACAAATAAGTCATCTGAGCAGAGTGTAATTGGTTCCATTTAGGCTTAATAACTTGAATATGCATGTGGAAAGAGCATGGCTGTGGAGTGAGTAGATGTGGTTTGAACAGATATGCCACTTTCTAGCTATGTACTTTGAGCAAGATACTGAAGTTTTCAGATATCTAGTTTCCTTATTTGTGAAATAAAGGTAATTGCCTTTCTTATATACCCACAAAAGCTTAAAAAATAGTATGTGTAGTAGTATAGTATAGCAAACTAGCAAATAGTTTATACTTAGTAAGTAGTATTTTCTTATCTTTTCCCTCCCTGCCAGCATCTCCTTGCACCCTTTCTCCCTTTTCTCCCCTCTCCTTACCAAGTTAGGATAATTCTTTGTCTCAAGTACCCTGAGACTTTGAAGATTTTTCAGATGTAAATTCTTAACTTCTGAAAATTTTCCCTGAGGATAACATAGCCCAGGTTTTATAGTGGGCCTTTTAGGATTCCAAATTCTCCTTTACTTAAAGGGAAAAAGAAGAAAATCAAGATATGTTTACTTGGATGGGCTTCAGAAATTGTACATAAGATTTTGTGTATGCTTTGCTTCCTTTATCTCATAGGTGTCTGTGACACCTGTCCTGGGTTGAGGAAGTCCAATTCTTTATAAGTGTTGAAATACACAGGATAAAAGTTTTGTCAAAATTGTATAACTTAGAATTCCTGGGAATTAGTAAAAGATACAAGCTGAGCACTGGCACTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGGACAGCTTGAGCTCAGGAGTTCAAGGCTGCAGTGTGCTATAATCATGTCTGTGAATAGCCAATGCACACCAGCCTGGGGAACATAGTGAGACTCTGACTAAAAGTTTTTTAAAAAAGAAAAAAGATATGTAAACAGAAATAATAACACTAATTTTCACATTTTAGGAAAATGGAGCTATAAGCCTGCCTTTAATTTCTAATTCAAAGATCTTCATTGAAAAATACAACCTTTTAACAATTATTAGCCTGGGTAAACCTGTATTCTTCTCTAGTGACCTAAAGCAATCTCTGACAGCTTCTGCTTTTTGCTGAAGCATGTCATCCCAGAGAAAAAGCCTTTAGGCAGACTTAAATTCCAGTGGCTTTTTTTCCCTATATGGTTGTTGCATCAATATAGTAGCATGATAAACATTCAGAGGTAAGGAAAACCTGACAGTTACTGAACAAACTATTTCCTTTACTGGACAGGGGAGAAAATTAAAATTTTTAAATTGAGTCTGAGTCTTTTAGGCTGTCTCCTAAATTGCTTAAATATATTTTCAGACATTTGTAAGTGATGTTTGGTCTCAATGAAACCTGGATATTATAGTTTTTTTCCATATTGGTGGTTATATATGATGTAATGAGGTCATAGAGGGAAAAATGGGAGGACTTAATTATAAGTTAATTTTGTTTTTAACCTTCAGTTTGTAGGGTAACTTTTAGGACACCCAGAAAGAAGTTCAGCAGATCCTGATTAAAGATTTTCACATTCTAATTTGATGAAGGGAAGGGCCATCTGATATCTGTCCCTATGATCCCCATTATAACTGGATCTAGTGGGAAAGAGAACCAGAATTTGAGTTTTGGCTTTGCTAAAAATGTATGGTGTGCCTTATTCTGACTTAATTTCTATTGATCCACATTAGGACCATAAGTCCTCTCATATTTTATGTCTCAGTGAGATGTATTTTAGGAAAGCCTATACCCCGCCCCTCTGTCATAGGAGCCTCACAGTGCTCTTATGGTTATATCAAGTGTGTCCCTTTTTATAAAATCCCTAAATGATTAAGGGGTATTTTGGTTTTACTGTAGAATTATAACATCTTATTTCTAACTGATCATAAAATTTAAAAATAGTTGATCATACTTTGTAACAGAATCACAAATTGTATGTTATGAAAAAATTTTGGAACTATAAGGAAAAATACGTTTTAAAACAACTTCATTTGTGTTTTCTCCTAGGTCAGCTGCCTATAATCTTCTGTGTGCCTTAACTTGTACCTTTAATTTAAAAATCGAGGGCCAGTTACTAGAGACATCAGGTTTATGTATCCCTGCCAACAACACCCTCTTTATTGTCTCTATTAGTAAGACACTGGCAGCCAATGAGCCACACCTCACGTTAGAATTTTTGGAAGAGTGTATTTCTGGATTTAGCAAATCTAGTAAGTAATGATAATTTTCTTTAATACTAACAATTATTCTAAGAGAATTCAAAGAAAACCCTTTCATTTCAGAATTTTCCAGTGAAGACTTTCACTTACATTTTTACTTTTTTTCCTCTTCTGATTTTATATCTGTGGTATCCTGTAACTGAAGGAACTCTGAAGGAACTTTTTGGTAGGCCACATTGAGAAATCCACCAAAATTCTGATAATAAAAGCAAAGCGGCAAGAGTTTGGTACTTTACACACCTCTGGACCACTTACAAAGTATTTTCTTCACTGTTGCAGTTTAATTAGCTTCAGCATTTCTCTTCATAGCAGAAAAGTCCACATAAGTATCCATGTTGCCTCCTTAATTTTAGAGAACTAGTCATTTTCTCTTTTCTTTAGGTTGACTTTGAACAATGAATTTATTGTAAATGTACAGTTCACGGAGAGCACAGTGGCACATAATACAGGGCCCAGAGTCAGTTCTGACTTTGTTTTAACTAAGTCTTATAAATTTAATATCCACTCTTTATATTTGTCCATCTTTATATCCTATAGTTTTATAAATGTTGATCTTCTCCCAGCATATTTCCTGACCTTTTCTTCCCTTTCCTTTCCCTGTAATATATAAAACTTTTTTTTCTGCATTCAAACACATTTCTTGACTTTTATATATTAGATAATTAAAAGCTTCAGCAATTCACTAAGACTCTTTGTCAGGTAAGAGATGTAGGACTATAACCCTAACAAAAAAATGTGTAGGACTGACAAAACAAGAAAAGTATAAACTTTATTCATAAATATTAATATGAGAGAAGATTTGAGTGAATGTAAAGGCATATTGTGTTCCTGCATGAACAGTTCTTCCCAGATTATTACAAATTTAATGTAATTTCATCAAAATAACCATGGGATTTGAGGATTGAGAATGGAGATAGAACTTAAATGATTCTAAATTCTACATAAAAGTGCAATAATAGCTAAGAAAATATTGAAAGGAAAGAGACTTGAGACTTAATAGTACAGATGTCTGAACACTTTATAGCAGTACAATAATTAAAACATACATGTGCAAGAATCAGCCATCAGATCAGTTTAAGAGAAACAGATTGATAAAGAAGCATCACAAACTGATGAGGGAGAGATTAAATCATTTAATAAATGAGGCTGGGAAATGACTTAAATTAGGTCTTCGTCTTCACCGTACACCATAAGATACCAAGTATGTTCTGCCTGTATTTAAGAGTTGAGTAGGGCTGTGTGTGGTGGCTCTCGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAAGAGGATTGTGGCAGGAGGATTGCTTGAGCCCCAGAGGTCAGGGCTATAGTGAGCTATCATCGTACCACTGCACTCCAGCCTGGATGATAGAGTGAGACCCTTCTCTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTGTATATAAAAGCTTGGAACCATTTTAAAAAGAAGAGGAACAAGTGAATATTTAATTGCTTTCTAGATGAGTAAGGACATATGAAGTAAAAAAGTGATAGGATGAAACAAAGGAAATAGCGAACAGATTTGACTACATAAAACTTCAAAACATAGCTACTCAAAAATAAACACAAGTGAAGATAATTAAAAACTAGGAAATACACTTGGAGCAAATATGAGAAATGATTAATATCCTTAATCGGCCAGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTAAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAATCCCCTCTCTACTAAAAATACAAAAATTAGCCGGGCTCGGTGGTACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAATAAATAAATGAATGAATAAATGAATGAATGAATGAATAAAATCCTTAATCATGAAGGGTGCTGACCGATTAATAAAAAGTGGATTAACAGTAACATACAGATCATGGTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTACTGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGACCTTAAGACTATTCATACCTTTTGGCCTCATAATTCTGCTTTTTAGCATTTATCCTAAAGAATTAATGTTAAAATGTTTATTATAGCATTATTTTTATGTAGATTTTTAAATTGAGGTATATCTTGTCATCAGTAAAGTGCAAGATCTTAAGTCAACAGCTTGATGAACTTCTACATGCAAATACATCATGAAAGTATCTCCAGATCTAGACATAGAACATTTCTAGCATCCAGAGGGATATTCTCAGTACCCTCCCTTCACCAAGAGTAAACACTATTATGACCTCTATTGCACAGATTTATTTTGCCTACTTTAGAACTTCATATGACATTATTTATAATAGCAAAAAAATGAACAGGCCAAAAGTCAAAGAATAAGGAACTGATTAAATTATTGGTTCTCCATCTGATGGAATAATATGAAGCCATTGAAAAATGGCTTTGTTACAGAATTTCAGTTTGGAAGATGAAAAGGTTCTAGAGATGGATGGTGGTGATGGCTGCACAATGATTTGAATGTACTCAGTGCCACTGAACTGTGCCCTTCAAAATGGGTAAAGCCACGGAACTGTACATTTAAAAATAGTTAAAATGGTAAATTTTGTGTTGTGTATATTTTACCACAATTTTAAAAACTCTTTGAGACTTTAGGTAAAGTGTATAGATAAATTTTTGTACAATTTTTGTCTTATAAATGTGAAGCTTTTTCAAGTAAGTTTAAAAGAAGTTTGCAGAATTTGTAATGTTGAATAAATAATCTCAGTATAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTCAAAATATGAAAAAAAATTTGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGATCGCTCCTCTGCACTCCAGCCTGGGCGACAGAGGAGACTCCATCTCAAAAAAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAATT	A	G31328175A	NF1	NM_001042492.3(NF1):c.5609+336_6006+244del	noncoding	Pathogenic
17	31330302	TG	T	G31330303C	NF1	NM_001042492.3(NF1):c.5617del:p.Ala1873fs	coding	Pathogenic
17	31330303	GC	G	C31330305T	NF1	NM_001042492.3(NF1):c.5619del:p.Tyr1874fs	coding	Pathogenic
17	31330314	TC	T	C31330315T	NF1	NM_001042492.3(NF1):c.5629del:p.Leu1877fs	coding	Pathogenic
17	31330315	C	CT	G31330317T	NF1	NM_001042492.3(NF1):c.5630dup:p.Cys1878fs	coding	Pathogenic
17	31330315	CTG	C	T31330320C	NF1	NM_001042492.3(NF1):c.5634_5635del:p.Ala1879fs	coding	Pathogenic
17	31330338	TA	T	A31330340T	NF1	NM_001042492.3(NF1):c.5654del:p.Asn1885fs	coding	Pathogenic
17	31330338	T	TA	T31330341A	NF1	NM_001042492.3(NF1):c.5654dup:p.Asn1885fs	coding	Pathogenic
17	31330340	ATTTAAAAATCGAGGGCCAGTTAC	A	T31330342A	NF1	NM_001042492.3(NF1):c.5656_5678del:p.Leu1886fs	coding	Pathogenic
17	31330374	AG	A	G31330376T	NF1	NM_001042492.3(NF1):c.5690del:p.Gly1897fs	coding	Pathogenic
17	31330376	GT	G	T31330379A	NF1	NM_001042492.3(NF1):c.5693del:p.Leu1898fs	coding	Pathogenic
17	31330389	T	TGCCAACAACACCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG	A31330408T	NF1	NM_001042492.3(NF1):c.5721_5722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACAACACCCTCTTT:p.Ile1908delinsPhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaGlyTer	coding	Pathogenic
17	31330392	CA	C	A31330394C	NF1	NM_001042492.3(NF1):c.5708del:p.Asn1903fs	coding	Pathogenic
17	31330399	AC	A	C31330402T	NF1	NM_001042492.3(NF1):c.5716del:p.Leu1906fs	coding	Pathogenic
17	31330404	CT	C	T31330407A	NF1	NM_001042492.3(NF1):c.5721del:p.Phe1907fs	coding	Pathogenic
17	31330405	TTTATTGTCTC	T	T31330407A	NF1	NM_001042492.3(NF1):c.5721_5730del:p.Phe1907fs	coding	Pathogenic
17	31330408	AT	A	T31330410G	NF1	NM_001042492.3(NF1):c.5724del:p.Ile1908fs	coding	Pathogenic
17	31330415	C	CTATTA	G31330421T	NF1	NM_001042492.3(NF1):c.5730_5734dup:p.Ser1912fs	coding	Pathogenic
17	31330419	TAGTA	T	T31330422A	NF1	NM_001042492.3(NF1):c.5736_5739del:p.Ser1912fs	coding	Pathogenic
17	31330422	TA	AT	T31330422A	NF1	NM_001042492.3(NF1):c.5736_5737delinsAT:p.Ser1912_Lys1913delinsArgTer	coding	Pathogenic
17	31330430	T	TG	C31330433G	NF1	NM_001042492.3(NF1):c.5746dup:p.Ala1916fs	coding	Pathogenic
17	31330454	C	CA	G31330455A	NF1	NM_001042492.3(NF1):c.5768_5769insA:p.Leu1924fs	coding	Pathogenic
17	31330458	AG	A	G31330459A	NF1	NM_001042492.3(NF1):c.5773del:p.Glu1925fs	coding	Pathogenic
17	31330461	A	AT	G31330467T	NF1	NM_001042492.3(NF1):c.5780dup:p.Leu1927fs	coding	Pathogenic
17	31330491	CAAATCTAG	C	A31330492T	NF1	NM_001042492.3(NF1):c.5806_5812+1del	coding	Pathogenic
17	31330512	AT	A	T31330516C	NF1	NM_001042492.3(NF1):c.5812+18del	noncoding	Benign
17	31331247	AGGACTGACAAAACAAGAAAAGTATAAACTTTATTCATAAATATTAATATGAGAGAAGATTTGAGTGAATGTAAAGGCATATTGTGTTCCTGCATGAACAGTTCTTCCCAGATTATTACAAATTTAATGTAATTTCATCAAAATAACCATGGGATTTGAGGATTGAGAATGGAGATAGAACTTAAATGATTCTAAATTCTACATAAAAGTGCAATAATAGCTAAGAAAATATTGAAAGGAAAGAGACTTGAGACTTAATAGTACAGATGTCTGAACACTTTATAGCAGTACAATAATTAAAACATACATGTGCAAGAATCAGCCATCAGATCAGTTTAAGAGAAACAGATTGATAAAGAAGCATCACAAACTGATGAGGGAGAGATTAAATCATTTAATAAATGAGGCTGGGAAATGACTTAAATTAGGTCTTCGTCTTCACCGTACACCATAAGATACCAAGTATGTTCTGCCTGTATTTAAGAGTTGAGTAGGGCTGTGTGTGGTGGCTCTCGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAAGAGGATTGTGGCAGGAGGATTGCTTGAGCCCCAGAGGTCAGGGCTATAGTGAGCTATCATCGTACCACTGCACTCCAGCCTGGATGATAGAGTGAGACCCTTCTCTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTGTATATAAAAGCTTGGAACCATTTTAAAAAGAAGAGGAACAAGTGAATATTTAATTGCTTTCTAGATGAGTAAGGACATATGAAGTAAAAAAGTGATAGGATGAAACAAAGGAAATAGCGAACAGATTTGACTACATAAAACTTCAAAACATAGCTACTCAAAAATAAACACAAGTGAAGATAATTAAAAACTAGGAAATACACTTGGAGCAAATATGAGAAATGATTAATATCCTTAATCGGCCAGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTAAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAATCCCCTCTCTACTAAAAATACAAAAATTAGCCGGGCTCGGTGGTACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAATAAATAAATGAATGAATAAATGAATGAATGAATGAATAAAATCCTTAATCATGAAGGGTGCTGACCGATTAATAAAAAGTGGATTAACAGTAACATACAGATCATGGTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTACTGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGTTTTTTAAAAAAGAATATTTGTACAAAAAAAGAAAAAAGCCAGGCACCATGGCACATGCCTGTAATCCCACCTGCTCAGGAGGATCGCTAAGCCCAGGAGTTTGAGACCAGCCTGGACAACATAGTGAGGCCCCCATCTCAAAAAGAATATTTATATTTTAAGAAATTCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGACCTTAAGACTATTCATACCTTTTGGCCTCATAATTCTGCTTTTTAGCATTTATCCTAAAGAATTAATGTTAAAATGTTTATTATAGCATTATTTTTATGTAGATTTTTAAATTGAGGTATATCTTGTCATCAGTAAAGTGCAAGATCTTAAGTCAACAGCTTGATGAACTTCTACATGCAAATACATCATGAAAGTATCTCCAGATCTAGACATAGAACATTTCTAGCATCCAGAGGGATATTCTCAGTACCCTCCCTTCACCAAGAGTAAACACTATTATGACCTCTATTGCACAGATTTATTTTGCCTACTTTAGAACTTCATATGACATTATTTATAATAGCAAAAAAATGAACAGGCCAAAAGTCAAAGAATAAGGAACTGATTAAATTATTGGTTCTCCATCTGATGGAATAATATGAAGCCATTGAAAAATGGCTTTGTTACAGAATTTCAGTTTGGAAGATGAAAAGGTTCTAGAGATGGATGGTGGTGATGGCTGCACAATGATTTGAATGTACTCAGTGCCACTGAACTGTGCCCTTCAAAATGGGTAAAGCCACGGAACTGTACATTTAAAAATAGTTAAAATGGTAAATTTTGTGTTGTGTATATTTTACCACAATTTTAAAAACTCTTTGAGACTTTAGGTAAAGTGTATAGATAAATTTTTGTACAATTTTTGTCTTATAAATGTGAAGCTTTTTCAAGTAAGTTTAAAAGAAGTTTGCAGAATTTGTAATGTTGAATAAATAATCTCAGTATAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTCAAAATATGAAAAAAAATTTGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGATCGCTCCTCTGCACTCCAGCCTGGGCGACAGAGGAGACTCCATCTCAAAAAAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAATT	A	G31331248A	NF1	NM_001042492.3(NF1):c.5812+750_6006+244del	noncoding	Pathogenic
17	31334204	GTGTGAACC	G	T31334213C	NF1	NM_001042492.3(NF1):c.5813-625_5813-618del	noncoding	Benign
17	31334652	A	ACTTTCTT	A31334661T	NF1	NM_001042492.3(NF1):c.5813-184_5813-178dup	noncoding	Pathogenic
17	31334826	AT	A	T31334833C	NF1	NM_001042492.3(NF1):c.5813-5del	noncoding	Benign/Likely_benign
17	31334839	TATTGA	T	T31334846A	NF1	NM_001042492.3(NF1):c.5821_5825del:p.Leu1941fs	coding	Pathogenic
17	31334839	T	TATTGA	A31334851T	NF1	NM_001042492.3(NF1):c.5821_5825dup:p.Lys1942delinsAsnTer	coding	Pathogenic
17	31334840	ATTGAATTGAAACACCT	A	A31334844T	NF1	NM_001042492.3(NF1):c.5819_5834del:p.Glu1940fs	coding	Pathogenic
17	31334850	AAC	A	A31334853C	NF1	NM_001042492.3(NF1):c.5828_5829del:p.His1943fs	coding	Pathogenic
17	31334870	AT	A	T31334871G	NF1	NM_001042492.3(NF1):c.5846del:p.Met1949fs	coding	Pathogenic
17	31334878	ATG	C	A31334878C	NF1	NM_001042492.3(NF1):c.5853_5855delinsC:p.Trp1952fs	coding	Pathogenic
17	31334896	TC	T	C31334897G	NF1	NM_001042492.3(NF1):c.5872del:p.Arg1958fs	coding	Pathogenic
17	31334918	GAT	G	A31334919G	NF1	NM_001042492.3(NF1):c.5894_5895del:p.Asp1965fs	coding	Pathogenic
17	31334932	AAG	A	A31334935T	NF1	NM_001042492.3(NF1):c.5910_5911del:p.Arg1970fs	coding	Pathogenic
17	31334934	G	GAGTT	C31334940G	NF1	NM_001042492.3(NF1):c.5911_5914dup:p.Thr1972fs	coding	Pathogenic
17	31334936	G	GTT	A31334939T	NF1	NM_001042492.3(NF1):c.5912_5913dup:p.Thr1972fs	coding	Pathogenic
17	31334995	A	AT	C31334997T	NF1	NM_001042492.3(NF1):c.5971dup:p.Ser1991fs	coding	Pathogenic
17	31335000	TTCAAGCAAAAA	T	C31335002A	NF1	NM_001042492.3(NF1):c.5977_5987del:p.Gln1993fs	coding	Pathogenic
17	31335002	CAA	C	A31335003G	NF1	NM_001042492.3(NF1):c.5978_5979del:p.Gln1993fs	coding	Pathogenic
17	31335006	CAA	C	A31335010T	NF1	NM_001042492.3(NF1):c.5985_5986del:p.Lys1995fs	coding	Pathogenic
17	31335028	GC	G	C31335029A	NF1	NM_001042492.3(NF1):c.6004del:p.Gln2002fs	coding	Pathogenic
17	31335279	T	TAC	T31335281C	NF1	NM_001042492.3(NF1):c.6006+249_6006+250insCA	noncoding	Benign
17	31335300	A	ATATAGGATTATATGTAGGATTATATTTATAATATAAATATATATT	G31335302A	NF1	NM_001042492.3(NF1):c.6006+270_6006+271insATAGGATTATATGTAGGATTATATTTATAATATAAATATATATTT	noncoding	Benign
17	31336364	GT	G	T31336367C	NF1	NM_001042492.3(NF1):c.6041del:p.Phe2014fs	coding	Pathogenic
17	31336375	AC	A	C31336377A	NF1	NM_001042492.3(NF1):c.6051del:p.Ser2018fs	coding	Pathogenic
17	31336385	CAGGTGGCTTGGGATCAATAAAAGCTGAGGTGATGGCAGATACTGCTGTAGCTTTGGCTTCTGGAAATGTGAAATTGGTTTCAAGCAAGGTAATCACTTTTCTTTTGCCTTCTGTACTATAGCATATCTGTTTTATCATCAGGAGG	C	A31336386T	NF1	NM_001042492.3(NF1):c.6060_6147+57del	coding	Pathogenic
17	31336414	GTGAT	CAC	G31336414C	NF1	NM_001042492.3(NF1):c.6088_6092delinsCAC:p.Val2030fs	coding	Pathogenic
17	31336425	T	TA	C31336427A	NF1	NM_001042492.3(NF1):c.6100dup:p.Thr2034fs	coding	Pathogenic
17	31336455	GA	G	A31336458T	NF1	NM_001042492.3(NF1):c.6132del:p.Lys2044fs	coding	Pathogenic
17	31336460	TG	T	G31336462T	NF1	NM_001042492.3(NF1):c.6136del:p.Val2046fs	coding	Pathogenic
17	31336596	G	GT	A31336608T	NF1	NM_001042492.3(NF1):c.6148-28dup	noncoding	Benign
17	31336606	T	TA	T31336607A	NF1	NM_001042492.3(NF1):c.6148-29_6148-28insA	noncoding	Benign
17	31336688	TACTTTAGA	T	T31336691A	NF1	NM_001042492.3(NF1):c.6204_6211del:p.Leu2069fs	coding	Pathogenic
17	31336707	AT	A	T31336708G	NF1	NM_001042492.3(NF1):c.6221del:p.Met2074fs	coding	Pathogenic/Likely_pathogenic
17	31336734	CGCTACAT	C	A31336738G	NF1	NM_001042492.3(NF1):c.6251_6257del:p.Arg2083_Tyr2084insTer	coding	Pathogenic
17	31336735	GC	G	C31336736T	NF1	NM_001042492.3(NF1):c.6249del:p.Tyr2084fs	coding	Pathogenic
17	31336739	CA	C	A31336740T	NF1	NM_001042492.3(NF1):c.6253del:p.Met2085fs	coding	Pathogenic
17	31336788	C	CCCTACCTCTTCCA	G31336803C	NF1	NM_001042492.3(NF1):c.6303_6315dup:p.Val2106fs	coding	Pathogenic
17	31336812	TT	A	T31336812A	NF1	NM_001042492.3(NF1):c.6325_6326delinsA:p.Phe2109fs	coding	Pathogenic
17	31336836	T	TC	T31336840C	NF1	NM_001042492.3(NF1):c.6352dup:p.Leu2118fs	coding	Pathogenic
17	31336841	T	TA	G31336843A	NF1	NM_001042492.3(NF1):c.6355dup:p.Arg2119fs	coding	Pathogenic
17	31336861	TGGT	AC	T31336861A	NF1	NM_001042492.3(NF1):c.6374_6377delinsAC:p.Leu2125fs	coding	Pathogenic
17	31336888	GT	G	T31336889A	NF1	NM_001042492.3(NF1):c.6402del:p.Leu2133_Cys2134insTer	coding	Pathogenic
17	31336891	CTTGTTCACAGCTTCAT	C	G31336894T	NF1	NM_001042492.3(NF1):c.6407_6422del:p.Cys2136fs	coding	Pathogenic
17	31337414	AC	A	C31337417A	NF1	NM_001042492.3(NF1):c.6477del:p.Lys2160fs	coding	Pathogenic
17	31337420	AT	A	T31337424A	NF1	NM_001042492.3(NF1):c.6484del:p.Tyr2162fs	coding	Pathogenic
17	31337426	CT	C	T31337428G	NF1	NM_001042492.3(NF1):c.6488del:p.Leu2163fs	coding	Pathogenic
17	31337431	T	TG	T31337433G	NF1	NM_001042492.3(NF1):c.6492dup:p.Phe2165fs	coding	Pathogenic
17	31337432	GT	G	T31337435G	NF1	NM_001042492.3(NF1):c.6495del:p.Phe2165fs	coding	Pathogenic
17	31337439	ATTA	TG	A31337439T	NF1	NM_001042492.3(NF1):c.6499_6502delinsTG:p.Ile2167fs	coding	Pathogenic
17	31337450	CA	C	A31337452G	NF1	NM_001042492.3(NF1):c.6512del:p.Lys2171fs	coding	Pathogenic
17	31337453	GT	TGA	G31337453T	NF1	NM_001042492.3(NF1):c.6513_6514delinsTGA:p.Lys2171fs	coding	Pathogenic
17	31337455	CA	C	A31337456G	NF1	NM_001042492.3(NF1):c.6516del:p.Ala2173fs	coding	Pathogenic
17	31337471	CT	C	T31337473C	NF1	NM_001042492.3(NF1):c.6533del:p.Phe2178fs	coding	Pathogenic
17	31337489	GGA	G	G31337490C	NF1	NM_001042492.3(NF1):c.6550_6551del:p.Asp2184fs	coding	Pathogenic
17	31337503	C	CT	C31337505T	NF1	NM_001042492.3(NF1):c.6564dup:p.Pro2189fs	coding	Pathogenic
17	31337520	A	AG	A31337522G	NF1	NM_001042492.3(NF1):c.6581dup:p.Glu2195fs	coding	Pathogenic
17	31337527	CT	C	T31337531G	NF1	NM_001042492.3(NF1):c.6591del:p.Phe2197fs	coding	Pathogenic
17	31337531	TG	T	G31337532C	NF1	NM_001042492.3(NF1):c.6592del:p.Ala2198fs	coding	Pathogenic
17	31337532	GC	G	C31337533T	NF1	NM_001042492.3(NF1):c.6593del:p.Ala2198fs	coding	Pathogenic
17	31337537	GAC	G	C31337539T	NF1	NM_001042492.3(NF1):c.6599_6600del:p.Thr2200fs	coding	Pathogenic
17	31337810	C	CT	A31337817T	NF1	NM_001042492.3(NF1):c.6643-3dup	noncoding	Benign
17	31337818	GG	TT	G31337818T	NF1	NM_001042492.3(NF1):c.6643-1_6643delinsTT	noncoding	Pathogenic
17	31337831	GAT	G	A31337834T	NF1	NM_001042492.3(NF1):c.6658_6659del:p.Ile2220fs	coding	Pathogenic
17	31337843	TG	T	G31337844C	NF1	NM_001042492.3(NF1):c.6668del:p.Cys2223fs	coding	Pathogenic
17	31337844	G	TT	G31337844T	NF1	NM_001042492.3(NF1):c.6668delinsTT:p.Cys2223fs	coding	Pathogenic
17	31337862	GGACAGAACTAG	CA	G31337862C	NF1	NM_001042492.3(NF1):c.6686_6697delinsCA:p.Trp2229fs	coding	Pathogenic
17	31337862	G	GT	G31337863T	NF1	NM_001042492.3(NF1):c.6686_6687insT:p.Trp2229fs	coding	Pathogenic
17	31337872	AG	A	G31337873C	NF1	NM_001042492.3(NF1):c.6697del:p.Ala2233fs	coding	Pathogenic
17	31338036	A	AAT	A31338042T	NF1	NM_001042492.3(NF1):c.6720_6721dup:p.Asn2241fs	coding	Pathogenic
17	31338040	TAA	T	A31338041T	NF1	NM_001042492.3(NF1):c.6721_6722del:p.Asn2241fs	coding	Pathogenic
17	31338051	TG	T	G31338052C	NF1	NM_001042492.3(NF1):c.6732del:p.Gln2245fs	coding	Pathogenic
17	31338055	AC	A	C31338057A	NF1	NM_001042492.3(NF1):c.6737del:p.Pro2246fs	coding	Pathogenic
17	31338065	CT	C	T31338067G	NF1	NM_001042492.3(NF1):c.6747del:p.Val2250fs	coding	Pathogenic
17	31338073	CT	C	T31338076G	NF1	NM_001042492.3(NF1):c.6756del:p.Phe2252fs	coding	Pathogenic
17	31338718	C	CT	A31338721T	NF1	NM_001042492.3(NF1):c.6836dup:p.Leu2279fs	coding	Pathogenic
17	31338735	C	CTT	A31338738T	NF1	NM_001042492.3(NF1):c.6852_6853dup:p.Tyr2285fs	coding	Pathogenic
17	31338764	ACAGTAATAGCACTAAC	A	G31338767A	NF1	NM_001042492.3(NF1):c.6883_6898del:p.Val2295fs	coding	Pathogenic
17	31338779	AC	A	C31338781A	NF1	NM_001042492.3(NF1):c.6897del:p.Lys2300fs	coding	Pathogenic
17	31338786	T	TACAGCCACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG	A31338800T	NF1	NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGACAGCCACTTCTT:p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaTer	coding	Pathogenic
17	31338787	A	ACAGCCACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A31338800T	NF1	NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCCACTTCTT:p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaHisAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProAlaThrSerTer	coding	Pathogenic
17	31338792	CA	C	A31338793C	NF1	NM_001042492.3(NF1):c.6909del:p.Leu2304fs	coding	Pathogenic
17	31338794	CT	C	T31338796C	NF1	NM_001042492.3(NF1):c.6912del:p.Asn2306fs	coding	Pathogenic
17	31338797	C	CTATTA	T31338799A	NF1	NM_001042492.3(NF1):c.6914_6915insATTAT:p.Asn2306fs	coding	Pathogenic
17	31340495	T	TCTTTGCCAGGA	C31340509T	NF1	NM_001042492.3(NF1):c.6922-7_6925dup	noncoding	Pathogenic
17	31340509	CG	C	G31340510C	NF1	NM_001042492.3(NF1):c.6927del:p.Pro2310fs	coding	Pathogenic
17	31340510	GC	G	C31340512T	NF1	NM_001042492.3(NF1):c.6929del:p.Pro2310fs	coding	Pathogenic
17	31340511	C	CCTCTG	A31340518T	NF1	NM_001042492.3(NF1):c.6930_6934dup:p.His2312fs	coding	Pathogenic
17	31340514	CTG	C	T31340515C	NF1	NM_001042492.3(NF1):c.6932_6933del:p.Leu2311fs	coding	Pathogenic
17	31340528	CT	C	T31340532G	NF1	NM_001042492.3(NF1):c.6949del:p.Trp2317fs	coding	Pathogenic
17	31340528	CTT	C	T31340531G	NF1	NM_001042492.3(NF1):c.6948_6949del:p.Phe2316fs	coding	Pathogenic
17	31340532	TG	T	G31340535T	NF1	NM_001042492.3(NF1):c.6952del:p.Trp2317_Val2318insTer	coding	Pathogenic
17	31340555	GC	G	C31340556T	NF1	NM_001042492.3(NF1):c.6973del:p.Asp2326fs	coding	Pathogenic
17	31340559	G	GAT	G31340562A	NF1	NM_001042492.3(NF1):c.6977_6978dup:p.Glu2327fs	coding	Pathogenic
17	31340570	C	CT	G31340573T	NF1	NM_001042492.3(NF1):c.6989dup:p.Leu2330fs	coding	Pathogenic
17	31340585	T	TG	A31340586G	NF1	NM_001042492.3(NF1):c.7002_7003insG:p.Thr2335fs	coding	Pathogenic
17	31340592	CT	C	T31340594C	NF1	NM_001042492.3(NF1):c.7011del:p.Glu2339fs	coding	Pathogenic
17	31340612	T	TAAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTACNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAA	C31340614A	NF1	NM_001042492.3(NF1):c.7030_7031insAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTACNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAA:p.His2343_Thr2344insLysAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysValSerLysLeuCysLeuGluValProArgLeuLeuLysPheSerThrXaaXaaXaaXaaXaaXaaLysLysLysLysLys	coding	Pathogenic
17	31340614	C	CT	A31340618T	NF1	NM_001042492.3(NF1):c.7034dup:p.Leu2345fs	coding	Pathogenic
17	31340614	CT	C	T31340617A	NF1	NM_001042492.3(NF1):c.7034del:p.Thr2344_Leu2345insTer	coding	Pathogenic
17	31340620	AT	A	T31340621A	NF1	NM_001042492.3(NF1):c.7038del:p.Asp2346fs	coding	Pathogenic
17	31340630	TA	T	A31340631T	NF1	NM_001042492.3(NF1):c.7048del:p.Ile2350fs	coding	Pathogenic
17	31340635	TCAATGACAAGGTAAGCAAA	T	A31340637T	NF1	NM_001042492.3(NF1):c.7054_7062+10del	coding	Pathogenic
17	31340641	A	AC	A31340643C	NF1	NM_001042492.3(NF1):c.7059dup:p.Lys2354fs	coding	Pathogenic
17	31340646	G	GA	T31340647A	NF1	NM_001042492.3(NF1):c.7062+1_7062+2insA	coding	Pathogenic
17	31340846	G	GA	C31340847A	NF1	NM_001042492.3(NF1):c.7062+201_7062+202insA	noncoding	Benign
17	31340847	C	CA	C31340861A	NF1	NM_001042492.3(NF1):c.7062+215dup	noncoding	Benign
17	31340855	A	AC	A31340856C	NF1	NM_001042492.3(NF1):c.7062+210_7062+211insC	noncoding	Benign
17	31343006	TA	T	A31343007G	NF1	NM_001042492.3(NF1):c.7063-2del	noncoding	Pathogenic
17	31343006	T	TAGAGTCCAGAGGAAGTATTTATGGCA	T31343034G	NF1	NM_001042492.3(NF1):c.7063-1_7087dup	noncoding	Pathogenic
17	31343015	GAGGA	G	G31343018T	NF1	NM_001042492.3(NF1):c.7072_7075del:p.Glu2358fs	coding	Pathogenic
17	31343016	AG	A	G31343018A	NF1	NM_001042492.3(NF1):c.7072del:p.Glu2358fs	coding	Pathogenic
17	31343026	TA	T	A31343027T	NF1	NM_001042492.3(NF1):c.7081del:p.Met2361fs	coding	Pathogenic
17	31343036	CG	C	G31343038A	NF1	NM_001042492.3(NF1):c.7092del:p.Asn2365fs	coding	Pathogenic
17	31343038	GA	G	A31343040T	NF1	NM_001042492.3(NF1):c.7094del:p.Asn2365fs	coding	Pathogenic
17	31343055	AC	A	C31343056T	NF1	NM_001042492.3(NF1):c.7110del:p.Cys2371fs	coding	Pathogenic
17	31343080	T	TGGACTCAATTTCTTTTTTTTTTNNNNNNNNNNGGGGTTACACCGAGGTCTCGATCTCCTGACCTCGAGATCCGCACGCCTCGGCCTCCCAAAGAGCTGTGATTAAAGGCGTGAGCCACAGCGACCGGCC	A31343093T	NF1	NM_001042492.3(NF1):c.7146_7147insTTTTTTTTTTNNNNNNNNNNGGGGTTACACCGAGGTCTCGATCTCCTGACCTCGAGATCCGCACGCCTCGGCCTCCCAAAGAGCTGTGATTAAAGGCGTGAGCCACAGCGACCGGCCGGACTCAATTTC:p.Asn2383delinsPhePhePheXaaXaaXaaXaaGlyLeuHisArgGlyLeuAspLeuLeuThrSerArgSerAlaArgLeuGlyLeuProLysSerCysAspTer	coding	Pathogenic
17	31343088	AT	A	T31343091C	NF1	NM_001042492.3(NF1):c.7145del:p.Phe2382fs	coding	Pathogenic
17	31343101	C	CT	A31343105T	NF1	NM_001042492.3(NF1):c.7158dup:p.Asn2387Ter	coding	Pathogenic
17	31343104	TA	T	A31343106C	NF1	NM_001042492.3(NF1):c.7160del:p.Asn2387fs	coding	Pathogenic
17	31343107	CTT	C	T31343109G	NF1	NM_001042492.3(NF1):c.7163_7164del:p.Phe2388fs	coding	Pathogenic
17	31343115	TG	T	G31343117T	NF1	NM_001042492.3(NF1):c.7171del:p.Val2391fs	coding	Pathogenic
17	31343118	TTG	T	T31343119G	NF1	NM_001042492.3(NF1):c.7173_7174del:p.Gly2392fs	coding	Pathogenic
17	31343123	C	CA	C31343125A	NF1	NM_001042492.3(NF1):c.7178dup:p.His2393fs	coding	Pathogenic
17	31343126	CT	C	T31343130A	NF1	NM_001042492.3(NF1):c.7184del:p.Leu2394_Leu2395insTer	coding	Pathogenic
17	31343130	T	TA	G31343135A	NF1	NM_001042492.3(NF1):c.7188dup:p.Gly2397fs	coding	Pathogenic
17	31343137	T	TA	G31343144A	NF1	NM_001042492.3(NF1):c.7189+8dup	noncoding	Benign/Likely_benign
17	31349086	C	CTTGT	T31349113G	NF1	NM_001042492.3(NF1):c.7190-33TTGT[7]	noncoding	Benign/Likely_benign
17	31349086	CTTGTTTGTTTGT	C	G31349101T	NF1	NM_001042492.3(NF1):c.7190-33TTGT[3]	noncoding	Benign/Likely_benign
17	31349113	TTTGTA	T	T31349114G	NF1	NM_001042492.3(NF1):c.7190-6_7190-2del	noncoding	Pathogenic
17	31349155	AC	A	C31349156A	NF1	NM_001042492.3(NF1):c.7226del:p.Thr2409fs	coding	Pathogenic
17	31349160	CAG	C	G31349162A	NF1	NM_001042492.3(NF1):c.7232_7233del:p.Arg2411fs	coding	Pathogenic
17	31349167	TTACA	T	T31349172C	NF1	NM_001042492.3(NF1):c.7242_7245del:p.Thr2415fs	coding	Pathogenic
17	31349178	A	ACTAACTCTGG	T31349189C	NF1	NM_001042492.3(NF1):c.7249_7258dup:p.Val2420fs	coding	Pathogenic
17	31349181	AACTC	A	A31349182T	NF1	NM_001042492.3(NF1):c.7252_7255del:p.Thr2418fs	coding	Pathogenic
17	31349188	GT	G	T31349190A	NF1	NM_001042492.3(NF1):c.7260del:p.Asn2421fs	coding	Pathogenic
17	31349189	TTAACA	T	T31349190A	NF1	NM_001042492.3(NF1):c.7260_7264del:p.Asn2421fs	coding	Pathogenic
17	31349190	T	TAACAAACACAGATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A31349203T	NF1	NM_001042492.3(NF1):c.7272_7273insTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAACACAGA:p.Asn2425delinsTyrValGluSerTer	coding	Pathogenic
17	31349193	CA	C	A31349196C	NF1	NM_001042492.3(NF1):c.7266del:p.Lys2422fs	coding	Pathogenic
17	31349205	TTG	T	T31349208A	NF1	NM_001042492.3(NF1):c.7278_7279del:p.Cys2426_Asp2427delinsTer	coding	Pathogenic/Likely_pathogenic
17	31349211	CA	C	A31349214T	NF1	NM_001042492.3(NF1):c.7284del:p.Lys2428fs	coding	Pathogenic
17	31349226	TAC	T	C31349230G	NF1	NM_001042492.3(NF1):c.7300_7301del:p.Gln2434fs	coding	Pathogenic
17	31349246	T	TA	G31349248A	NF1	NM_001042492.3(NF1):c.7317dup:p.Ala2440fs	coding	Pathogenic
17	31349266	TAAAC	T	C31349270A	NF1	NM_001042492.3(NF1):c.7321+19_7321+22del	noncoding	Benign/Likely_benign
17	31349631	CTATTTTAAGCTAATCTACTTGCCATCTCCTACAAGCAACTGCCTCTTCAATATTCATTCCTTATGTCATTTTATCTGGAGTATCTGCCCTATCCCCACCATTCCATTAAAGCTTCCTATTTGCTCTTATCTGATTTTTGTTTCTCTACTCAGCAACACTTAGCACTTATGTACAATACAATTCTTGAACATAGTTGTTTGATAGAAAGTGCTGATTCTCAGTTTCACAGACTTGTATTTGTTCAACTTTTTTGTTTGAACCGTATCATCTTGAGCAAATCATTTAACATCTCAGTATTTTTTCTCATTCAGCTTAATAATACCTGCCCTGCCTACTTTGTGTTTGTTAAAGATCAAATGTATATTAAAGAACTTGGAAAATAAAAGATGCTTATTAAATCTCTCTGTATATTTCACATTTATGTAGTCTTCCAAAATATGTGCACATTTAACAGGTACTATGCTCTTTAGGAGACTGTAAGAAGTTCATCCTGTTTTAAGTCACACTTGTGATTTGTTAAATTTTTTAACCTGCCACCGTTTTCCTTTTAGCTTTACTTACAGTGTCTGAAGAAGTTCGAAGTCGCTGCAGCCTAAAACATAGAAAGTCACTTCTTCTTACTGATATTTCAATGGAAAATGTTCCTATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCCTGGGGAAAAAAACTAACGCGAAATATAAACAACACATTACGTGCTTGGATAGAGAACGAATCTATACAGATTTGTAAAAATACAGGCATGCTAACACATTTGTTGTATTTACTCATATCACACAAGTTATTTAAAAGTTTTCTATAATGTAGACATAGATGGTAAAAATTATATCTGCTATACATGGGTTTGGGTAGTATATTTTTCAGTATAATTTAGAGAAATTTCATGAAAATGGCATCATTGGGGGATTTTTCTGTATTTTCAATTAAATAAAAATATCTTTAAGGTTTAGGGACAGTGTTGAACACAGAAAAGTTATCTTCTGTTCGCAAAACTCGTATCATTCCATTTATCAACATCCTGCTTTTTGATAAAAAGACTTCAACAATTTCCTTAAGATTCTAACAATGTACGCAAAAATTTTTCAAACATGGTATTCAATAGTCTTACTTTCGTCAGTCCCATTATTATATTACTTTGAGATATGCCCTTTTTGTTATAGAAAGGGTAAAATAGTTTGCCTGTGTTCCCCTGTCAAAGTATAAATTAATATCTGATTTTCTTGGTTTTTAAACAATTGCCTATTTAGACTTAATTTTTTCTGATTTAAAAAAAATCAGTGCAATAAGTTCAAGGTCTTTTATCAACATAACTACAGTTAATGTATTTTATACTTGAAAATAGCTACGAGTAGATTTTAAGTATTCTCACCACAAAAGATAAATATATGAGGTAACACATATGTTAATTTGCTTGATTTAGCCATTCTACAATGTAAACATTTTATTTATTTTTATTTTTCTTTATTAATTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAACACAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCATGTTGGGCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCAGCCAATGTAAACATATTTTAAAACATCATGTTGTACACCAAGCTTGCTCAACCCATGGCCTGCAGGCCGCACGCAGCCCAGGATGGCTTTGAATGCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTAAGTGATTTTTTGGGGTTTTTTTTTTTTTTTAAGCTCATCAACTGTAGTTAGTGTTAGTGTATTTTATATGTGGCCCAGTATATTCTTCTAATTCCAGTGTGGCCCAGGAAAGCTAAGAGATTGGACACCCCTGTTGCTATACCTTTTTATTTGTCAGCTTTTAAAAATTGCAGTACAGATCTTTTTGTTCAGCATTTGGTGAGTACCTACTATGTGCAAGATACTATGGCAAGAAAGTTGATAATTCCTAGGGATACACCAAGAGTTTGTATCCTAAAGCCCTTTAAAGTGCAATTTTAAAATTAATTGATTGCTGTTGTTAGGAAATAGGACAGCCACTTGGAAGGAGCAAACGATGGTTGTATTTGTCACCATATTAATTGATTTTTCTCTATTGTTTTCATCTTTCAGGACACTAAAGGAGACTCAGCCATGGTCCTCTCCCAAAGGTTCTGAAGGATACCTTGCAGCCACCTATCCAACTGTCGGCCAGACCAGTCCCCGAGCCAGGAAATCCATGAGCCTGGACATGGGGCAACCTTCTCAGGCCAACACTAAGAAGTTGCTTGGTTAGTTTATCTAAATTATGTAGATTTTTTTTATTATTTAAAAAAATAGATATTTTTACTCTTGGAAAATTATTTGAAATTTCAGGATTATCAAAATTTTCCATGTCAGTGTAGCAAAGTTTTTGATGCCATTTAAAAGAGAGTTTGATAGATCAGTTAAGCATTATAAGTTGAGATAGAGAAATGAGAATGGGACCTTGAAACAGTTTTTTCTGAATCTTATACTAAATATTGTGACTCTCCTTATTTTGTTTTGCCTTTGCTGGCCAGCAGGGAATGGGACTCTGAGACATATTAGATAAATACCTATAAGAAAGGAAGAGTCTTGCTGCACTCAGGGGATTTAATGATATACTGTAATACTTCCCAAAATTATCATCTGAGAGAATATATGAATATGGTATGAAGCTGTAATAGTACTATTTGCCGTGCTTTCTTTGAAAAGACAAAAAGACATGCTTCTCAATTACCGAAAGAAAATAGGATTCTTTTTTTTCTTTTTTCTTTTCTTGATATGAAGTCTTGTTCTGTTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCATCCTCCCTAGTAGCTGGGTTTACAGGCACACGTCACCACATCTGGCTAACTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATACACCCTCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCATGCCCGGCCGGAAGATAGGATTCTTGAAATTAAGATTGCTCAGTTACATCAACATTTATAGAATTTTTGTCTCTGAGAAGTACACCTGAAATGCTGCGAGACTCATTTCCATTTTAGTAACTGAAAGTAAATGAATGAAAAAACCCACTAGGCCAGGTGCAGTGGCTCACGCCCATAATCCCAGCACTTTGAGGGACTCAGGTGGGAGGATTGCTCGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATGACAAAACCCATCTCTACAAAAAATACAAAACTTAGCTGGGCATGGTGACGAGCACCTCTAGTCCCAGCTACTTGGGAAGATCACTTGAGCCCAGGAGGTGGGGGTAGCAGTAAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGGGACCCCGACTCCAAACAAACAAACAAACAAAAACACTGATCTTACATCGCTCCTCAGAGGAAATGCAGAGATGTTCTTGCATTCCATTGGGTAAAATTGTAATTGTTACTGGAATACATTAGGATCTGTATTTCAGTAGCCAGCACTGAATGGTTCAACAGATTTCAGTTATCCATGCAAACATATTTAAGTATCTTTAGGTATTGGAAAAATGTTTGTGTTCATAAGGAAATTAGTGAACAAACAACAAATTGTAACATAAATAACGTGCCAGTAAACCGTGAAAGAAATAGAAACCATGAATGTGTCAATCACAGTTACTAGCCACATAGGTGTGTTACTGTTGTTTGAGTTCCCTTCTGTTAGTACCTTGCCATAAATAATCATTTAGGAGTTTCCTGGTTACTTTGTGTTTTGTAATTCTGGATTTTCATGCCAATGAAGTTGTAAATGAAAAACTAACCTCAGAAAAAAATATATTGAATTCATTCAACCCATGTACTAAGTGAAAAAGATAAGGTAACTGCCCTGGAAGACTTTGTAATTTGTGTCCAAGACTTATAATCAGCCAATCACAACAGCAACTCCAGGTGCCATTAAAATGATATGTCTTGATGGAGAAAGCTGGAGATCTGGGGAAATTAGAAGAAAAAAAACTGCAGAGAGGAGATAACATTTGGGCTGTGTCATAAAGATTTAATATATGCTTGCAAAATAGCAGGATAAGTAGGGGCATATGTTTAAGAGCAGTGGGGAATAGCAAGAATAAAGAAAAGGCAGGAAAGCAACTGATGATACATCATGGCATCATGGGGAATGGGGTAGGAAATGAGATGAGAAGAAGGACTAGAACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAGGATTGTTTGAGGCTGACCTGGGCAGCATAGTCAGACCCTGTCTCAAAAAAAACAAAAATCAGGTTTGGAATAGGTTTCTGAAGTACAATGGACATGACTTAGTGACCAATTGTTGCAGGTGGGGAAGGGGAGAAGACTGTGAAGGATGTCAGAAGCTTTTAGTTTTAAAAACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAAAGTAGTGTCCCAATCTCATGTACTTTGGAAAGCACTGACTGGTTTTAGAAAACCTGAGTTTTCCATCTGGTCATTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGACCAAGGCAGGTGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATCAGCTGGGTGTGGTAGTGTGTGCCTGTAGTCCCAGCTACTGGGGAGGCTGATGTGGGAGGATCACCTGAGCCCAGGATGTGGAGGTTGCAGTGAGCTGAAATCATATCACTGCACTCCAGCCTGGGCCACAGAGCGAGACCCTATCAAAAGAAAAAAATAGTGTTAATACATGATTACATGATTAGAGAAACTAAAAGCCAAATGGGAGATAATGCTACTTGCTATTTTTGAAGCATCTCCCAGTGTATCTGGTTTTTAGTATTTTCAGGCATGCATATCTTTTTTTCAAAGCTTAAAAAATTAAAATCAAACTCTGCTTTCTTCCTAAGCTTGGAAATTACTCATGTATTAATGAGTAGTTCTTGGCACCAGCAGCGTTTCTTAAACTGAAAAGACTGGTCAGACATAGTTGACCTTTGCTACTGAATAATGCCTACCATTGCATTTATTATCAGTTATCATATTTGTTGATTTACCTCCAGTGTAGTTTGGTTTACCTCCAGTGTACAGAATACAATCTCAGTTTAATTTGCACCAGTAAGGTGCAACCTATCCTGAAACAGAAAGCTATGGGAACAAAACCCTTTGAGAAGATGGAAAATAAAGGAAAGAAACTGCTCCAGGGATGTATTAGAGCTTTCTTTGAGTCCTCAGTGAAAGCTTAAACACTTTATGTCCAAACATTTTCTTTTTAGTGTATTCCCATTTATAGACACTGTAGTTAATGAACTTGCATATTCTTAACTTTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATATATATTATATACAGCATTGTAAATAGGTAGCCAAAACTTTTGTGTAGGCGAATAGTAATTCTCTATGATGTTTATGTTAGTATTTTAAGTATCTACTAAAGAAAGCTGTTGAATTTTAGAAGTAACATTGAAATAGTTAGGTGAAGTGATTATCCAGGTGTTTGATCACGTTAATTCCCTATCTTGCTGCAGAAACTCAGAGGATTTCCTCATCACAACAGCACCCACATTTACGTAAAGTTTCAGTGTCTGAATCAAATGTTCTCTTGGATGAAGAAGTACTTACTGATCCGAAGATCCAGGCGCTGCTTCTTACTGTTCTAGTAAGGATTTCCCCTTTTTGAGTCCCCCACCCTCAAATTTTTATTCCAGTCTACTTTTAGGAGGCCCTTAAATATTAAAAACATGAATAGGATACAGTCTTCTACTTCTCACCCAAACAGATAACAATTCAGCCACAAAGTAAAAATGTTGTGTGTTTACTTTTTTGCATCTTGGCAGGCTACACTGGTAAAATATACCACAGATGAGTTTGATCAACGAATTCTTTATGAA	C	T31349634C	NF1	NM_001042492.3(NF1):c.7321+383_7925del	noncoding	Pathogenic
17	31350170	GT	G	T31350174C	NF1	NM_001042492.3(NF1):c.7322-9del	noncoding	Benign
17	31350193	AGT	A	G31350196C	NF1	NM_001042492.3(NF1):c.7335_7336del:p.Val2445_Ser2446insTer	coding	Pathogenic
17	31350225	TAAAAC	T	A31350227T	NF1	NM_001042492.3(NF1):c.7366_7370del:p.Leu2455_Lys2456insTer	coding	Pathogenic
17	31350228	AAC	A	C31350230T	NF1	NM_001042492.3(NF1):c.7369_7370del:p.Lys2456_His2457insTer	coding	Pathogenic
17	31350232	TAGAA	T	A31350235T	NF1	NM_001042492.3(NF1):c.7374_7377del:p.Arg2458fs	coding	Pathogenic
17	31350234	GA	G	A31350237G	NF1	NM_001042492.3(NF1):c.7376del:p.Lys2459fs	coding	Pathogenic
17	31350256	T	TA	T31350258A	NF1	NM_001042492.3(NF1):c.7396dup:p.Ile2466fs	coding	Pathogenic
17	31350261	CAA	AAT	C31350261A	NF1	NM_001042492.3(NF1):c.7400_7402delinsAAT:p.Ser2467_Met2468delinsTer	coding	Pathogenic
17	31350279	T	TG	A31350282G	NF1	NM_001042492.3(NF1):c.7420dup:p.Asp2474fs	coding	Pathogenic
17	31350281	GATACATATCCC	G	A31350284T	NF1	NM_001042492.3(NF1):c.7423_7433del:p.Thr2475fs	coding	Pathogenic
17	31350284	AC	A	C31350285A	NF1	NM_001042492.3(NF1):c.7424del:p.Thr2475fs	coding	Pathogenic
17	31350297	A	AT	C31350299T	NF1	NM_001042492.3(NF1):c.7437dup:p.His2480fs	coding	Pathogenic
17	31350300	A	AG	T31350301G	NF1	NM_001042492.3(NF1):c.7439_7440insG:p.His2480fs	coding	Pathogenic
17	31350301	TG	T	G31350303T	NF1	NM_001042492.3(NF1):c.7442del:p.Gly2481fs	coding	Pathogenic
17	31350306	ACCCTTCCTATAGGTAAGT	A	C31350307G	NF1	NM_001042492.3(NF1):c.7446_7457+6del	coding	Pathogenic
17	31350311	TC	T	C31350313T	NF1	NM_001042492.3(NF1):c.7452del:p.Tyr2485fs	coding	Pathogenic
17	31350313	C	CTA	G31350318T	NF1	NM_001042492.3(NF1):c.7455_7456dup:p.Arg2486fs	coding	Pathogenic
17	31350317	A	AG	T31350320G	NF1	NM_001042492.3(NF1):c.7457+1dup	coding	Pathogenic
17	31352256	GGA	TTT	G31352256T	NF1	NM_001042492.3(NF1):c.7458-1_7459delinsTTT	noncoding	Pathogenic
17	31352262	TA	T	A31352265G	NF1	NM_001042492.3(NF1):c.7466del:p.Lys2489fs	coding	Pathogenic
17	31352322	ATC	A	T31352323C	NF1	NM_001042492.3(NF1):c.7524_7525del:p.Pro2509fs	coding	Pathogenic
17	31352323	T	TC	A31352326C	NF1	NM_001042492.3(NF1):c.7526dup:p.Thr2510fs	coding	Pathogenic
17	31352342	AG	A	G31352343T	NF1	NM_001042492.3(NF1):c.7544del:p.Ser2515fs	coding	Pathogenic
17	31352356	GA	G	A31352359T	NF1	NM_001042492.3(NF1):c.7560del:p.Lys2520fs	coding	Pathogenic
17	31352360	T	CC	T31352360C	NF1	NM_001042492.3(NF1):c.7561delinsCC:p.Ser2521fs	coding	Pathogenic
17	31352391	AG	A	G31352393C	NF1	NM_001042492.3(NF1):c.7594del:p.Ala2532fs	coding	Pathogenic
17	31352407	GT	G	T31352409G	NF1	NM_001042492.3(NF1):c.7610del:p.Leu2537fs	coding	Pathogenic
17	31356462	AC	A	C31356463A	NF1	NM_001042492.3(NF1):c.7619del:p.Thr2540fs	coding	Pathogenic
17	31356472	GT	G	T31356476G	NF1	NM_001042492.3(NF1):c.7632del:p.Phe2544fs	coding	Pathogenic
17	31356487	T	TA	T31356489A	NF1	NM_001042492.3(NF1):c.7644dup:p.Ser2549fs	coding	Pathogenic
17	31356490	CA	C	A31356491G	NF1	NM_001042492.3(NF1):c.7647del:p.Asp2550fs	coding	Pathogenic/Likely_pathogenic
17	31356492	GAC	G	C31356496A	NF1	NM_001042492.3(NF1):c.7652_7653del:p.Thr2551fs	coding	Pathogenic
17	31356506	T	TA	G31356511A	NF1	NM_001042492.3(NF1):c.7666dup:p.Arg2556fs	coding	Pathogenic/Likely_pathogenic
17	31356956	GCAGAAACT	G	A31356961G	NF1	NM_001042492.3(NF1):c.7739-3_7743delCAGAAACT	noncoding	Pathogenic
17	31356965	CA	C	A31356966G	NF1	NM_001042492.3(NF1):c.7745del:p.Gln2582fs	coding	Pathogenic
17	31356965	C	CAG	G31356970A	NF1	NM_001042492.3(NF1):c.7747_7748dup:p.Ile2584fs	coding	Pathogenic
17	31356965	C	CCT	A31356966C	NF1	NM_001042492.3(NF1):c.7744_7745insCT:p.Gln2582fs	coding	Pathogenic
17	31356968	AG	A	G31356970A	NF1	NM_001042492.3(NF1):c.7749del:p.Ile2584fs	coding	Pathogenic
17	31356983	CA	C	A31356985C	NF1	NM_001042492.3(NF1):c.7764del:p.Gln2588fs	coding	Pathogenic
17	31357009	T	TG	T31357010G	NF1	NM_001042492.3(NF1):c.7788_7789insG:p.Ser2597fs	coding	Pathogenic
17	31357013	GT	G	T31357014G	NF1	NM_001042492.3(NF1):c.7793del:p.Val2598fs	coding	Pathogenic
17	31357033	CT	C	T31357035G	NF1	NM_001042492.3(NF1):c.7814del:p.Leu2605fs	coding	Pathogenic
17	31357035	TGGATGAA	T	G31357037A	NF1	NM_001042492.3(NF1):c.7816_7822del:p.Asp2606fs	coding	Pathogenic
17	31357042	A	ATC	G31357043T	NF1	NM_001042492.3(NF1):c.7821_7822insTC:p.Glu2608fs	coding	Pathogenic
17	31357062	AGATC	A	G31357063C	NF1	NM_001042492.3(NF1):c.7842_7845del:p.Lys2614fs	coding	Pathogenic
17	31357079	CT	C	T31357081A	NF1	NM_001042492.3(NF1):c.7860del:p.Thr2621fs	coding	Pathogenic
17	31357250	CT	C	T31357256G	NF1	NM_001042492.3(NF1):c.7870-13del	noncoding	Benign
17	31357278	G	GT	A31357280T	NF1	NM_001042492.3(NF1):c.7880dup:p.Tyr2629fs	coding	Pathogenic
17	31357293	GA	G	A31357294T	NF1	NM_001042492.3(NF1):c.7895del:p.Asp2632fs	coding	Pathogenic
17	31357295	T	TG	A31357297G	NF1	NM_001042492.3(NF1):c.7897dup:p.Glu2633fs	coding	Pathogenic
17	31357309	GA	G	A31357311T	NF1	NM_001042492.3(NF1):c.7912del:p.Ile2638fs	coding	Pathogenic
17	31357326	T	TTG	A31357328G	NF1	NM_001042492.3(NF1):c.7928_7929insGT:p.Leu2643_Ala2644insTer	coding	Pathogenic
17	31357346	GT	G	T31357349C	NF1	NM_001042492.3(NF1):c.7950del:p.Val2653fs	coding	Pathogenic
17	31357346	GTTTCCCAAAGT	G	T31357347C	NF1	NM_001042492.3(NF1):c.7948_7958del:p.Phe2650fs	coding	Pathogenic
17	31357358	C	CT	C31357362T	NF1	NM_001042492.3(NF1):c.7962dup:p.Pro2655fs	coding	Pathogenic
17	31357516	T	TAAGATTAGTTTTGACCTACTAGATCTATTAGAAAGTTTATAAGGAAAGACTTTTAAAAAATCTGGTTGATTTATTTAAGTGGTTTATTTTGATGATCATTGCTCATTTTCCTCACTTAGAAGCAAACTATTAGACTGCTATATCTAAATCAGCATATCTGTTTTGGTTTACTTTTTAGTAGAGCTTTTGTATTTATCCACAGCTGAGTGAAAACAAAATTGACCTTCTGTTTAGGAGGTGAATTGTTTACTCTCTCTTAAGGACTAAAAAATATTAACCTCAAAGTGTTCAAATTTAAATAGTTCAAATAAATTCTTTTCCTGATCTAGGCCTTCTATATCATGTCATTATTTTCTTTTTTTAATCTCATGTTAGAATTTTAGAGAGTTAGAACTCAGTTATTTTTATTAATGGAGTGTAGCCGGGTTAGAAATAATTTTTTTCCTAAGTTTCAGTTGGATCATGTATTTCACTCCCTCTAAACTATTTTGCTTTCCCTATTTGATCTGACTCAGCATTTTAAAAGCACTGATTAACATTAAATTTAATTTTTTTCTTTTTGTTTTGCACAGATCCTAAATTTAGTTTTAACTTCCTAAGCGCATGTCAGTATACAACAGATGGAAATAGTACTAAAACATGCTAAGTAGCAGACAGAGCCAACCTTGTCTTAAGCAAACATTTACCGTATATGGTTACACATGGTTATATGACACTACCAGTTGTTTGTTTTCACAATTTCTTCCCTGGTGACTAAAAACAAAAGACAAACAAAAACAGACACACACACATGTTCATTGTAGAAAATTTGGAAAATGAAGAAATGCCCCAGAAAGTAAAAAGCACTCATCTCCCTTTAATTTTGGCACATTATTCTGGGGAATGTATATTATGTTTTCCACTACATATTTTCATTTAATTTTCCTCTAAAATGTTCCTCTGTTGACTTTTTTTTTCTTTTAGGCATAATTTGTTGGACTCTAAGATCAACACCCTGTTATCATTGTGCCAAGATCCAAATTTGTTAAATCCAATCCATGGAATTGTGCAGAGTGTGGTGTACCATGAAGAATCCCCACCACAATACCAAACATCTTACCTGCAAAGTAAATAAATGTATCTGGAGAAGGATGGTTGATGAACTTGCTAACATGCGCGCTGTTGTAGAATGCACTGACTACAGAATTCTTTATAAGGGATAGACTTGTTCATACTTTTATTTCCATATTCCATTTTTTTACTCTCTCAACTGTATGTCCAATGTAACTGGTTGACAACTTTTTATGCTGAGTATATTTTAAGTAGGTTTTAGTTGCTTTGACACTCATTCTAAAAACATGTTTTCAACATGTACATAGGGTTTATATATCATCAGCTATATGACTTATTTAATTTCTGTTACAATTAAAAGATACCTTGCTTGTTATAAGAGTAAAATTTGATTTGTTGCAGGTTTTGGTTTTAATGGCTTGTGGCGGTTTGCAGGACCGTTTTCAAAGGTAAGAAAATATATTTTTCTCTAACTTTTGGCAAAATGAAGGTTTCTGTTCAAATTAGTATGCCTGCTTTAAGAACACACAATGTGCTGAAAACCAGAAAAATAATTCACAATAAACACATATGTTACTTTTATAAAAAGTTTCTCATCACAAGGTTTTTTTCCAGGAGGCAGCATGGTGTTGGGGTGTGTGTATTCACTTTTACAAACAAAGTCAACTTATGATCAATTTTTCAGAAGAGTATGATAAACCTCTGTGATACTTTTCTGCCACAGTCCCTTGTGTATTTGATAATCTTAATGCACACAGTTAGATATCTTATGACTAGCAAGGAGCATTACCATGGTTAAAATCTATTTCATGAAAACATTTTTATTTCCAGCCTATTAGATTAGATTAATTTCTCTCTGGATTTGTCCTCATTTGCTCTTATTCAGTTTTTTTGTTTGTTTGTTTGTTTTGTGAGACGGAGTCTCACTCTGTCTCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGAGACTACAGGCATGCAGCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	T31359739A	NF1	NM_001042492.3(NF1):c.7970+149_8160+723dup	noncoding	Pathogenic
17	31358463	C	CT	C31358473T	NF1	NM_001042492.3(NF1):c.7971-8dup	noncoding	Benign/Likely_benign
17	31358477	TA	T	A31358478G	NF1	NM_001042492.3(NF1):c.7971-2del	noncoding	Pathogenic
17	31358485	AT	A	T31358488G	NF1	NM_001042492.3(NF1):c.7979del:p.Leu2660fs	coding	Pathogenic
17	31358551	TC	T	C31358553A	NF1	NM_001042492.3(NF1):c.8044del:p.His2682fs	coding	Pathogenic
17	31358578	A	AC	A31358581C	NF1	NM_001042492.3(NF1):c.8071dup:p.His2691fs	coding	Pathogenic
17	31358581	ATGAAGAAT	A	T31358582C	NF1	NM_001042492.3(NF1):c.8073_8080del:p.Glu2692fs	coding	Pathogenic
17	31358642	GA	G	A31358644G	NF1	NM_001042492.3(NF1):c.8113+22del	noncoding	Benign/Likely_benign
17	31358982	TG	T	G31358984C	NF1	NM_001042492.3(NF1):c.8129del:p.Gly2710fs	coding	Pathogenic
17	31358992	CGGTTT	C	G31358994C	NF1	NM_001042492.3(NF1):c.8139_8143del:p.Phe2714fs	coding	Pathogenic
17	31358994	G	GT	G31358998T	NF1	NM_001042492.3(NF1):c.8142dup:p.Ala2715fs	coding	Pathogenic
17	31359006	GT	G	T31359010C	NF1	NM_001042492.3(NF1):c.8155del:p.Ser2719fs	coding	Pathogenic
17	31360493	CA	C	A31360496T	NF1	NM_001042492.3(NF1):c.8170del:p.Ile2724fs	coding	Pathogenic
17	31360496	A	ATTCCAGAC	A31360506T	NF1	NM_001042492.3(NF1):c.8172_8179dup:p.Tyr2727fs	coding	Pathogenic
17	31360525	G	GT	C31360529T	NF1	NM_001042492.3(NF1):c.8202dup:p.Leu2735fs	coding	Pathogenic
17	31360866	T	TGAAG	C31360871G	NF1	NM_001042492.3(NF1):c.8377+164_8377+167dup	noncoding	Benign
17	31939213	AT	A	T31939214A	SUZ12	NM_015355.4(SUZ12):c.275-1072del	noncoding	Benign
17	31940447	CTT	C	T31940448A	SUZ12	NM_015355.4(SUZ12):c.348_349del:p.Tyr117fs	coding	Pathogenic
17	34629914	T	TG	A34629923G	TMEM132E	NM_001304438.2(TMEM132E):c.1339-86dup	noncoding	Benign
17	34638256	A	AC	A34638268C	TMEM132E	NM_001304438.2(TMEM132E):c.*35dup	noncoding	Benign
17	34638256	AC	A	C34638267A	TMEM132E	NM_001304438.2(TMEM132E):c.*35del	noncoding	Benign
17	34638266	C	CA	C34638267A	TMEM132E	NM_001304438.2(TMEM132E):c.*34_*35insA	noncoding	Benign
17	34638266	C	CCA	A34638269C	TMEM132E	NM_001304438.2(TMEM132E):c.*35_*36dup	noncoding	Benign
17	35099487	AAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCATGATTCTATCCCTGTTGCATTCATCACCTCTAAATGTCATTACTTTCTGAGTGTAACTCGGACCCTCCTTTCCTGCAGCCAAGACATAACTGATTAATTACACAACAGGCTCTCTAACCAAGAAAGATGACCTTCCTTTAAAAGATGTGGCCAGTAACCAATCCTGATCATTTCTGTACTTTTCCTTTTATTTTCCATTCCCTGGTGTCTTCGTCCCCTCCCAGCCAGGGTCATGGCTCTCAGACGGATGGCCACAGTGCTGGTGAAAGACAGAGGGATTATTTCATACACTAGGGCACTAGCTGTGGTACAGCTGGCAGGAAGAGAGGTGTAATTATATTGCATCTTGGAGCCACCAGCAATGAATTTCTGCATAAAGGACTAGATTTGCCATGTATTATTTACGTCAGCATCAATTTTCCCAGCTGGCTCTATTTACTGTGCAAATTCTCCTCTGTCTGTTTATGGGCAAGGCCATGGTTCAGCACCTCTGGTTATGCTGTACTGTGGAGGGGCCCCACAGGGCACCATGCATATTAAATGAGTGGCTGGATTCACCAGGAGCAGGTCATACCCTCCCTTTCTGTTAAATTATATCCCTGGAACTGCAGCGAGCCCACACGTTCTCACCTAGTCATGGTGATGCAGGCAGGTCTGAAACCAAATCAGCAAGAGGAAAGGAGGAATAAACTGTTCTTTGGGCCTCACTGGGGGAAACTGAAAAACAGCCTTCTAAGGGGAAATCAGGTGGCTCTAGGGCTCGGGGAATTGCCTTTTTATATTTTTAAGAGCAAAACAGAGATGAAGAAGAGTATTTCATTTATAAGCTTATTTCCACCCAGTAACTCAGAGACAGAGCTAAGGAAGAGTGGGCCCCCATCTAACAAATGGAAAGGCAGAGACAAAAGAAAAAAAAGGCAGCAGCAGCAAAGGCAAGTTAGAGGCTTTCCCGGCTTGGCCACTGCGCTAGGAGGGAGCACAGGACACAATGGTGATGCACAGGATTATCCATCCAGTCGCCAGCATGCCTCATCAGAGATGCTCCCAGCCAGGGTGAACTTGGTTTCCACCAGAAACATACACGTTAGAAATAAGGGAAGGAAACGTGGCACCAGTATGAATTTCTGGGTCCTCGCAATGCAGCATCCTCTTTCGCCTGTGGTTTATATGCTTACAGAGAGTGAGGCCAAGGAACCCAAGATGTCTCTTCTGGCCAGCCTGAGAACGTCTGTAGTCACCAGTGCCAGGTGGCAGTAAACAGCAGGCGTTACTGGGAAGAAAAGTTGGGAGGGGTCCCCAATGCTTCCCTGTTTCCCAAACAACAGCACAGGTCATGTCTGATCACCCTGTAATGTGGCACTCTGCTCTGAGGTCCCCCAGGTCCCAATGTCTACCATCTCCTGGAAACCTGTTGGCTGGAAGAAGAAGTAAGGAGTCAGTGGAGTTAAGCAACCCAAGTGGGTAGCTTCTTTAGTTGCAAGGTTTCAGCCTCTAAAGAGTTCTTCTCGAAGACATCTGTGGGTATGGAAACCACCCTCCAGGGCCCAAGATTACTGGCATCTTCCTGGGGCTGGCTCACCTGTCGGGAAGATTTGGCCAGACACGCCATGCGCCGGCCGCCTGATGCTCCTGCTCCCTCGATGGTGTCCAGGAGAATCCGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAAGGTGGATGAACCTTCTGGACATTATGCTAAGTGAAATACTCCAGTCACAAAAAGTAAATACCATATGATTCCATGTATATGAGGTTCCTAGAGTAGTCAAAAAGCATAGATACAGAAAGTAGAATGGTGGTTGTCAGGGGCTGGGGAAGGGGAAAATGAGTTATTTTTAATGGGTACAGAGTTTCAGTTTTACAAGGTGAAGAGTTATAGAGATGGATGGTGGTGATGGTTGTACAGCGTTATGAATGTATTTAACACCACCGAACTGTATACCTTAAAGTGGTTAAGATAGTAAATTTTATGTTACATGTATTTTACCACAATAAAAGAAACTGGAAAAAATATATAGCTGCTAAAAATTACATTTCTAAAAAATCTATTTTAAAACATAGGAAATGGACTCAGATGGTATTTTTTATGTTGTTGTTTTGGTTTGTTTGTTTTTGAGATGAGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCGATCTCCCAGGCTCAAGCAATTCTCCTGCCACCAAGGCCACCTAGTTTTTGTATTTTTTGTAGAGGTGGGGTTTTGCCATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCACCAGCCTTGGCTTCTCAAAGTGCTGGGATTACACGCATAAACCAGCGCACCTGGCCTATTTTTTTTTATTTTTTCATGAGGTTAGTTTAGTTAGAAAGCTGGTTAAGTGTGGGCTCACACCTGTAATACCAACACTTTGGGAGGCTGAGGCGGGTGGATTGCTTGAGCCTGGAAGGTCGAGCTGCAGTGAGCTGTGATTGTGCCCCTGCACTCCAGCCTGGGAAACAGAGCGAAACCCTATCTCAAAAGAAAAAAAAAAGAAAGAAAGAAAGTTGGCTAAAAGTATAAGTAAATATGCAGAAAAAGTATTGTATGGAGATATGTAAAAATATTAATATGGTTTCTGTGGATGTGGAGATTGATGACAAATTTGAATCATATTTATTTTCTATCCTTTCTATGAGAAGCATGCAGACTTTAAAAAAACTACCTCATAAGCAGAAAAAGTTACTTCAATAGCAAAAAGAT	A	A35099488C	RAD51D;RAD51L3-RFFL	NM_002878.4(RAD51D):c.738+402_*1465del	noncoding	Pathogenic
17	35101224	AC	A	C35101225G	RAD51D	NM_002878.4(RAD51D):c.879del:p.Cys294fs	coding	Pathogenic
17	35101307	C	CGTCCGAG	G35101316T	RAD51D	NM_002878.4(RAD51D):c.790_796dup:p.Arg266fs	coding	Pathogenic
17	35101325	AGCCTCCC	A	C35101328T	RAD51D	NM_002878.4(RAD51D):c.772_778del:p.Gly258fs	coding	Pathogenic/Likely_pathogenic
17	35101349	GT	G	T35101351A	RAD51D	NM_002878.4(RAD51D):c.754del:p.Thr252fs	coding	Pathogenic
17	35101362	T	TCA	C35101366A	RAD51D	NM_002878.4(RAD51D):c.740_741dup:p.Thr248Ter	coding	Pathogenic/Likely_pathogenic
17	35103277	GGGCCAGGGTCTTCAGCTCTCG	AGGCCAGGGTCTTCAGCTCTCA	G35103277A	RAD51D	NM_002878.4(RAD51D):c.694_715delinsTGAGAGCTGAAGACCCTGGCCT:p.Arg232_Arg239delinsTer	coding	Pathogenic
17	35103298	GG	AA	G35103298A	RAD51D	NM_002878.4(RAD51D):c.693_694delinsTT:p.Arg232Ter	coding	Pathogenic
17	35103328	CAGG	C	G35103337A	RAD51D	NM_002878.4(RAD51D):c.668-13CCT[2]	noncoding	Benign/Likely_benign
17	35106394	CCACA	T	C35106394T	RAD51D	NM_002878.4(RAD51D):c.564_568delinsA:p.Val189fs	coding	Pathogenic
17	35106475	CT	C	T35106477C	RAD51D	NM_002878.4(RAD51D):c.486del:p.Ala163fs	coding	Pathogenic
17	35106479	T	TG	C35106481G	RAD51D	NM_002878.4(RAD51D):c.482dup:p.Glu162fs	coding	Pathogenic
17	35106500	AAAGC	A	C35106504G	RAD51D	NM_002878.4(RAD51D):c.481-23_481-20del	noncoding	Benign/Likely_benign
17	35107034	CG	C	G35107037A	RAD51D	NM_002878.4(RAD51D):c.433del:p.Arg145fs	coding	Pathogenic
17	35107075	GT	G	T35107079G	RAD51D	NM_002878.4(RAD51D):c.392del:p.Asn131fs	coding	Pathogenic
17	35107085	A	AG	C35107088G	RAD51D	NM_002878.4(RAD51D):c.382dup:p.Leu128fs	coding	Pathogenic
17	35107085	AG	A	G35107087C	RAD51D	NM_002878.4(RAD51D):c.382del:p.Leu128fs	coding	Pathogenic
17	35107116	GAC	G	C35107118T	RAD51D	NM_002878.4(RAD51D):c.350_351del:p.Cys117fs	coding	Pathogenic
17	35107124	TG	T	G35107129T	RAD51D	NM_002878.4(RAD51D):c.346-3del	noncoding	Benign
17	35107390	TCCTA	T	C35107392A	RAD51D	NM_002878.4(RAD51D):c.317_320del:p.Val106fs	coding	Pathogenic
17	35107395	CA	C	A35107397T	RAD51D	NM_002878.4(RAD51D):c.315del:p.Ile105fs	coding	Pathogenic
17	35107407	CTT	C	T35107408C	RAD51D	NM_002878.4(RAD51D):c.302_303del:p.Glu101fs	coding	Pathogenic
17	35107418	T	GG	T35107418G	RAD51D	NM_002878.4(RAD51D):c.293delinsCC:p.Tyr98fs	coding	Pathogenic
17	35107430	TCAAG	T	A35107433G	RAD51D	NM_002878.4(RAD51D):c.277_280del:p.Leu93fs	coding	Pathogenic
17	35107437	GT	G	T35107440A	RAD51D	NM_002878.4(RAD51D):c.273del:p.Lys91fs	coding	Pathogenic
17	35118397	T	TA	C35118408A	RAD51D	NM_002878.4(RAD51D):c.263+94dup	noncoding	Benign
17	35118499	ACCTGCCAATGCCAGTGGACAGGATGGCAGTGGAGGTCTTCAGTTCCTCGTAGAGATCAGCGCCATTCACGGGGAAAGCCGAGAACTGAGCCAGCAGCACCCGCCTCAGGGCAACCAGGG	A	T35118508A	RAD51D	NM_002878.4(RAD51D):c.146_263+1del	noncoding	Pathogenic
17	35118507	AT	A	T35118508G	RAD51D	NM_002878.4(RAD51D):c.256del:p.Ile86fs	coding	Pathogenic
17	35118540	AG	A	G35118541T	RAD51D	NM_002878.4(RAD51D):c.223del:p.Glu74_Leu75insTer	coding	Pathogenic
17	35118549	TAG	T	G35118553T	RAD51D	NM_002878.4(RAD51D):c.213_214del:p.Tyr72fs	coding	Pathogenic
17	35118559	C	CGCCATTCACGGGGAAAGCCGAGAACTGA	G35118592T	RAD51D	NM_002878.4(RAD51D):c.177_204dup:p.Ala69fs	coding	Pathogenic
17	35118596	C	CA	C35118598A	RAD51D	NM_002878.4(RAD51D):c.167dup:p.Leu57fs	coding	Pathogenic
17	35119440	TGCAGGTATGCCAGGGCAGTGCGCCAGCCCTCGGGGCCTGCCCAGGTTGTGCGAGGCCCGCGCGGCTCCCTGGCACGCGCACACCCGGTCACCTGTCTTGATCCTGTGGCTCCTGAGAAGCTGGATCATCTCCTCGGTAAGGCCAGGGCACAGTCCGACCCTGAGCACGCCCATGTTCCCCGCAGGCCGGAACAGCCCCAGGGGGACTGCACGTCACGTGGGCATTCGCGGGGGGTCCTCTCCAGACGCCCCTCCC	T	G35119441C	RAD51D	NM_002878.4(RAD51D):c.-82_82+91del	noncoding	Pathogenic
17	35119556	G	GA	G35119559A	RAD51D	NM_002878.4(RAD51D):c.57dup:p.Leu20fs	coding	Pathogenic
17	35119562	GG	C	G35119562C	RAD51D	NM_002878.4(RAD51D):c.51_52delinsG:p.Ile17fs	coding	Pathogenic
17	35119586	GGCAC	G	G35119587A	RAD51D	NM_002878.4(RAD51D):c.24_27del:p.Cys9fs	coding	Pathogenic
17	35152992	GGCCAGTGCCATCCA	G	T35152998C	UNC45B	NM_001267052.2(UNC45B):c.471+16_471+29del	noncoding	Benign
17	35180253	TGAGAGAGA	T	G35180282A	UNC45B	NM_001267052.2(UNC45B):c.2256-305GA[14]	noncoding	Benign
17	35180253	T	TGA	A35180290G	UNC45B	NM_001267052.2(UNC45B):c.2256-305GA[19]	noncoding	Benign
17	35180253	T	TGAGA	A35180290G	UNC45B	NM_001267052.2(UNC45B):c.2256-305GA[20]	noncoding	Benign
17	35180253	T	TGAGAGA	A35180290G	UNC45B	NM_001267052.2(UNC45B):c.2256-305GA[21]	noncoding	Benign
17	35180253	T	TGAGAGAGAGA	A35180290G	UNC45B	NM_001267052.2(UNC45B):c.2256-305GA[23]	noncoding	Benign
17	35558059	C	CTATAGTCGACTAG	C35558060T	SLFN14	NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA:p.Glu2fs	coding	Pathogenic
17	35575891	AAC	A	C35575895T	PEX12	NM_000286.3(PEX12):c.969_970del:p.Phe324fs	coding	Pathogenic
17	35575897	TAGCC	T	C35575900A	PEX12	NM_000286.3(PEX12):c.961_964del:p.Gly321fs	coding	Pathogenic/Likely_pathogenic
17	35575940	GAC	G	C35575944G	PEX12	NM_000286.3(PEX12):c.920_921del:p.Cys307fs	coding	Pathogenic
17	35575950	GCA	G	C35575955G	PEX12	NM_000286.3(PEX12):c.910_911del:p.Cys304fs	coding	Pathogenic/Likely_pathogenic
17	35576019	AG	A	G35576020T	PEX12	NM_000286.3(PEX12):c.842del:p.Thr281fs	coding	Pathogenic
17	35576080	AG	A	G35576082A	PEX12	NM_000286.3(PEX12):c.781del:p.Asp262fs	coding	Pathogenic/Likely_pathogenic
17	35576454	A	ACCT	C35576460T	PEX12	NM_000286.3(PEX12):c.681-276_681-274dup	noncoding	Benign
17	35576487	GA	G	A35576502C	PEX12	NM_000286.3(PEX12):c.681-307del	noncoding	Benign
17	35577037	CC	TG	C35577037T	PEX12	NM_000286.3(PEX12):c.680_680+1delinsCA	noncoding	Pathogenic
17	35577206	TC	T	C35577209A	PEX12	NM_000286.3(PEX12):c.511del:p.Glu171fs	coding	Pathogenic
17	35577246	CT	C	T35577247C	PEX12	NM_000286.3(PEX12):c.471del:p.Ala158fs	coding	Pathogenic
17	35577409	C	CA	T35577412A	PEX12	NM_000286.3(PEX12):c.308dup:p.Leu103fs	coding	Pathogenic
17	35577411	ATC	A	C35577415G	PEX12	NM_000286.3(PEX12):c.305_306del:p.Arg102fs	coding	Pathogenic
17	35577457	G	GTT	A35577459T	PEX12	NM_000286.3(PEX12):c.260_261insAA:p.Tyr87Ter	coding	Pathogenic/Likely_pathogenic
17	35577493	CAG	C	G35577495T	PEX12	NM_000286.3(PEX12):c.223_224del:p.Leu75fs	coding	Pathogenic/Likely_pathogenic
17	35577495	G	GA	T35577497A	PEX12	NM_000286.3(PEX12):c.222dup:p.Leu75fs	coding	Pathogenic
17	35577543	AC	A	C35577545A	PEX12	NM_000286.3(PEX12):c.174del:p.Trp58fs	coding	Pathogenic
17	35577559	GCCATAGTGGGTGGGATTTGATTCTGCAAGAAC	G	C35577561T	PEX12	NC_000017.10:g.33904579_33904610del	coding	Pathogenic
17	35577563	TAGTG	T	A35577564G	PEX12	NM_000286.3(PEX12):c.151_154del:p.His51fs	coding	Pathogenic
17	35577905	AT	A	T35577906G	PEX12	NM_000286.3(PEX12):c.116del:p.His39fs	coding	Pathogenic
17	35577945	T	TGTGCTACC	A35577954G	PEX12	NM_000286.3(PEX12):c.69_76dup:p.Gln26delinsArgTer	coding	Pathogenic/Likely_pathogenic
17	35577967	ATGGC	A	C35577971T	PEX12	NM_000286.3(PEX12):c.51_54del:p.Gln17fs	coding	Pathogenic
17	35749078	TG	T	G35749083T	GAS2L2	NM_139285.4(GAS2L2):c.735+31del	noncoding	Benign
17	35809260	TC	T	C35809264G	TAF15	Single_allele	noncoding	Benign
17	35820529	CT	C	T35820542A	TAF15	NM_139215.3(TAF15):c.290+105del	noncoding	Benign
17	35822344	C	CA	G35822363A	TAF15	NM_139215.3(TAF15):c.291-278dup	noncoding	Benign
17	35824241	C	CT	A35824256T	TAF15	NM_139215.3(TAF15):c.605+57dup	noncoding	Benign
17	35834644	G	GT	G35834655T	TAF15	NM_139215.3(TAF15):c.673+56dup	noncoding	Benign
17	35834644	GT	G	T35834654G	TAF15	NM_139215.3(TAF15):c.673+56del	noncoding	Benign
17	35838597	G	GT	C35838602T	TAF15	NM_139215.3(TAF15):c.913+48dup	noncoding	Benign
17	35844643	AGACAGAAGTGGGGGTGGCTATGGTGGG	A	A35844650G	TAF15	NM_139215.3(TAF15):c.1351_1377del:p.442SGGGYGGDR[1]	coding	Benign
17	35844658	TGGCTATGGTGGGGACAGAGGCGGC	T	C35844679A	TAF15	NM_139215.3(TAF15):c.1380_1403del:p.454GYGGDRGG[3]	coding	Benign
17	37181363	G	GA	T37181373A	ACACA	NM_198834.3(ACACA):c.4777-8dup	noncoding	Benign
17	37248681	G	GAAC	G37248685A	ACACA	NM_198834.3(ACACA):c.2082-10_2082-8dup	noncoding	Benign
17	37263912	GA	G	A37263922C	ACACA	NM_198834.3(ACACA):c.1120-19del	noncoding	Benign
17	37263912	G	GA	C37263923A	ACACA	NM_198834.3(ACACA):c.1120-19dup	noncoding	Benign
17	37698911	CT	C	T37698921G	HNF1B	NM_000458.4(HNF1B):c.1653+164del	noncoding	Benign
17	37699028	A	AG	T37699029G	HNF1B	NM_000458.4(HNF1B):c.1653+47_1653+48insC	noncoding	Benign
17	37704921	TGC	T	G37704922A	HNF1B	NM_000458.4(HNF1B):c.1333_1334del:p.Ala445fs	coding	Pathogenic
17	37710577	GGC	G	G37710578T	HNF1B	NM_000458.4(HNF1B):c.1130_1131del:p.Ser377fs	coding	Pathogenic
17	37731814	GCTGCAAACATT	G	A37731819C	HNF1B	NM_000458.4(HNF1B):c.815_825del:p.Glu272fs	coding	Pathogenic
17	37733553	TTACCTG	T	A37733555T	HNF1B	NM_000458.4(HNF1B):c.807_809+3del	noncoding	Pathogenic
17	37733737	CT	C	T37733738G	HNF1B	NM_000458.4(HNF1B):c.628del:p.Ser210fs	coding	Pathogenic
17	37739487	GCA	G	A37739489G	HNF1B	NM_000458.4(HNF1B):c.495_496del:p.Ala166fs	coding	Pathogenic
17	37744535	GCCTA	G	A37744539G	HNF1B	NM_000458.4(HNF1B):c.344+2_344+5del	noncoding	Pathogenic
17	38334760	GT	G	T38334761A	GPR179	NM_001004334.4(GPR179):c.1727del:p.Tyr576fs	coding	Pathogenic/Likely_pathogenic
17	38335628	CA	C	A38335632C	GPR179	NM_001004334.4(GPR179):c.1368del:p.Phe456fs	coding	Pathogenic
17	38339213	TA	T	A38339214G	GPR179	NM_001004334.4(GPR179):c.903+203del	noncoding	Benign
17	38339462	TG	T	G38339465C	GPR179	NM_001004334.4(GPR179):c.857del:p.Pro286fs	coding	Pathogenic
17	38339477	CTGAT	C	T38339482G	GPR179	NM_001004334.4(GPR179):c.839_842del:p.Asn280fs	coding	Pathogenic
17	38339519	CT	C	T38339520G	GPR179	NM_001004334.4(GPR179):c.800del:p.Gln267fs	coding	Pathogenic
17	39204201	CAG	C	A39204204T	RPL19	NM_000981.4(RPL19):c.467+17_467+18del	noncoding	Benign
17	39501207	C	CT	C39501218T	CDK12	NM_016507.4(CDK12):c.2420-33dup	noncoding	Benign
17	39665391	C	CG	A39665394G	TCAP	NM_003673.4(TCAP):c.34dup:p.Glu12fs	coding	Pathogenic/Likely_pathogenic
17	39665391	CG	C	G39665393A	TCAP	NM_003673.4(TCAP):c.34del:p.Glu12fs	coding	Pathogenic
17	39665400	A	ACTGTGAG	G39665409T	TCAP	NM_003673.4(TCAP):c.43_49dup:p.Arg17delinsLeuTer	coding	Pathogenic/Likely_pathogenic
17	39665697	G	GC	T39665702C	TCAP	NM_003673.4(TCAP):c.111-15dup	noncoding	Benign/Likely_benign
17	39674659	G	GA	C39674662A	PGAP3	NM_033419.5(PGAP3):c.452dup:p.Trp152fs	coding	Pathogenic
17	39716393	CG	C	G39716397C	ERBB2	NM_004448.4(ERBB2):c.1610del:p.Gly537fs	coding	Pathogenic
17	39717309	G	GC	A39717318C	ERBB2	NM_004448.4(ERBB2):c.1738-3dup	noncoding	Benign
17	39727760	C	CG	C39727761G	ERBB2	NM_004448.4(ERBB2):c.3484_3485insG:p.Pro1162fs	coding	Pathogenic
17	40093323	T	TC	T40093326C	THRA	NM_021724.5(NR1D1):c.1646-42dup	coding	Pathogenic
17	40293442	A	AT	C40293452T	CDC6	NM_001254.4(CDC6):c.661-5dup	noncoding	Benign
17	40296690	AT	A	T40296698A	CDC6	NM_001254.4(CDC6):c.1185-5del	noncoding	Benign
17	40630932	G	GA	C40630940A	SMARCE1	NM_003079.5(SMARCE1):c.817-15dup	noncoding	Benign
17	40631592	C	CA	C40631593A	SMARCE1	NM_003079.5(SMARCE1):c.815_816insT:p.Arg272fs	coding	Pathogenic
17	40631599	AG	A	G40631600T	SMARCE1	NM_003079.5(SMARCE1):c.808del:p.Arg272fs	coding	Pathogenic
17	40632354	GC	G	C40632356A	SMARCE1	NM_003079.5(SMARCE1):c.554del:p.Gly185fs	coding	Pathogenic
17	40635916	CT	C	T40635923C	SMARCE1	NM_003079.5(SMARCE1):c.541+14del	noncoding	Benign
17	40636032	CT	C	T40636037G	SMARCE1	NM_003079.5(SMARCE1):c.439del:p.Ser147fs	coding	Pathogenic
17	40636060	CG	C	G40636065A	SMARCE1	NM_003079.5(SMARCE1):c.411del:p.Ala138fs	coding	Pathogenic
17	40642174	TTC	T	C40642176G	SMARCE1	NM_003079.5(SMARCE1):c.156+279_156+280del	noncoding	Benign
17	40642518	GT	G	T40642519A	SMARCE1	NM_003079.5(SMARCE1):c.92del:p.Tyr31fs	coding	Pathogenic
17	40645329	G	GA	C40645336A	SMARCE1	NM_003079.5(SMARCE1):c.51+241dup	noncoding	Benign
17	40818878	A	AGCT	C40818887T	KRT10	NM_000421.5(KRT10):c.1651AGC[3]:p.Ser553dup	coding	Benign
17	40818880	C	CGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	T40818881G	KRT10	NM_000421.5(KRT10):c.1654_1655insAGCTCCGGCGGCGGATACGGCGGCGGCAGC:p.Ser552delinsLysLeuArgArgArgIleArgArgArgGlnArg	coding	Benign
17	40818881	T	TGCTGCCGCCGCCGGA	C40818906G	KRT10	NM_000421.5(KRT10):c.1639_1653dup:p.543GGGSS[3]	coding	Benign/Likely_benign
17	40818942	A	ACCGTAGCCGCCGCTGGAACTGCCG	G40818971A	KRT10	NM_000421.5(KRT10):c.1569_1592dup:p.Ser525_Gly532dup	coding	Benign
17	40818999	GCCGCCGCCGGAGCTT	G	G40819020T	KRT10	NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[1]:p.503SSGGG[1]	coding	Benign
17	40819014	T	TCCGCCCCCGTAG	G40819020C	KRT10	NM_000421.5(KRT10):c.1520_1521insCTACGGGGGCGG:p.Gly507_Ser508insTyrGlyGlyGly	coding	Benign
17	40819077	G	GAGCTT	C40819078A	KRT10	NM_000421.5(KRT10):c.1457_1458insAAGCT:p.His487fs	coding	Benign
17	40819118	AGCCGCCGCCGAAAC	T	A40819118T	KRT10	NM_000421.5(KRT10):c.1403_1417delinsA:p.Ser468fs	coding	Pathogenic
17	40819515	AC	A	C40819517T	KRT10	NM_000421.5(KRT10):c.1373+1del	noncoding	Pathogenic
17	40819575	T	TG	A40819576G	KRT10	NM_000421.5(KRT10):c.1314_1315insC:p.Lys439fs	coding	Pathogenic
17	41567173	CA	C	A41567186G	KRT9	NM_000226.4(KRT9):c.*40+59del	noncoding	Benign
17	41567173	C	CA	G41567187A	KRT9	NM_000226.4(KRT9):c.*40+47dup	noncoding	Benign
17	41567438	CCCACTTCCTCCTCCAGAGCCACTTCCTCCTCCATAGTTGCCCCCACTTCCTCCACTATGACCACCTCCACTTCCTCCGCTATGGCCACCTCCACTTCCTCCACCATAGCCACCTCCACTACCTCCTCCAGAACCACTTCCTCCACCGTAGCTGCCTCCACTTCCTCCCCTGGACCCACTTCCTCCACCATAGCCACCT	C	G41567454C	KRT9	NM_000226.4(KRT9):c.1509_1706del:p.Tyr520_Ser585del	coding	Benign
17	41568911	TACACACAC	T	C41568949G	KRT9	NM_000226.4(KRT9):c.1045-322GT[18]	noncoding	Benign
17	41568911	TACACAC	T	C41568951G	KRT9	NM_000226.4(KRT9):c.1045-322GT[19]	noncoding	Benign
17	41568911	TACAC	T	C41568953G	KRT9	NM_000226.4(KRT9):c.1045-322GT[20]	noncoding	Benign
17	41568911	TAC	T	C41568955G	KRT9	NM_000226.4(KRT9):c.1045-322GT[21]	noncoding	Benign
17	41568911	T	TAC	G41568957C	KRT9	NM_000226.4(KRT9):c.1045-322GT[23]	noncoding	Benign
17	41570223	GA	G	A41570232G	KRT9	NM_000226.4(KRT9):c.643-4del	noncoding	Benign
17	41570223	G	GAA	G41570233A	KRT9	NM_000226.4(KRT9):c.643-5_643-4dup	noncoding	Benign
17	41583199	T	TG	C41583208G	KRT14	NM_000526.5(KRT14):c.1274+28dup	noncoding	Benign
17	41583249	CTCCAGCAGGCGGCGGTAG	C	T41583250G	KRT14	NM_000526.5(KRT14):c.1242_1259del:p.Tyr415_Glu420del	coding	Pathogenic
17	41583262	CG	C	G41583264T	KRT14	NM_000526.5(KRT14):c.1246del:p.Arg416fs	coding	Pathogenic
17	41583275	TCTC	T	C41583278G	KRT14	NM_000526.5(KRT14):c.1231_1233del:p.Glu411del	coding	Pathogenic
17	41584272	CT	C	T41584274C	KRT14	NM_000526.5(KRT14):c.749del:p.Lys250fs	coding	Pathogenic
17	41586644	CCG	C	G41586646A	KRT14	NM_000526.5(KRT14):c.189_190del:p.Cys63fs	coding	Benign
17	41620565	GA	G	A41620576C	KRT17	NM_000422.3(KRT17):c.1182-8del	noncoding	Benign
17	41620565	G	GA	C41620577A	KRT17	NM_000422.3(KRT17):c.1182-8dup	noncoding	Benign
17	41758875	CA	C	A41758882G	JUP	NM_002230.4(JUP):c.1498-6del	noncoding	Benign
17	41767491	AGGCGCACGGCCATCTT	A	A41767497C	JUP	NM_002230.4(JUP):c.781_796del:p.Lys261fs	coding	Pathogenic
17	41767582	T	TG	T41767590G	JUP	NM_002230.4(JUP):c.708-3dup	noncoding	Benign/Likely_benign
17	41769021	GC	G	C41769025T	JUP	NM_002230.4(JUP):c.654del:p.Leu219fs	coding	Pathogenic
17	41769133	GCCCATCAGGGC	G	C41769136G	JUP	NM_002230.4(JUP):c.532_542del:p.Ala178fs	coding	Pathogenic
17	41769907	A	AT	G41769923T	JUP	NM_002230.4(JUP):c.209-245dup	noncoding	Benign
17	41769907	A	ATT	G41769923T	JUP	NM_002230.4(JUP):c.209-245_209-244dup	noncoding	Benign
17	41786569	CG	C	G41786570C	JUP	NM_002230.4(JUP):c.-9+18del	noncoding	Benign
17	41786570	GC	G	C41786575G	JUP	NM_002230.4(JUP):c.-9+17del	noncoding	Benign
17	41813048	G	GC	A41813056C	FKBP10	NM_021939.4(FKBP10):c.21dup:p.Ser8fs	coding	Pathogenic
17	41813151	CCCCCTGGAAGATGTGGTCATCGAGAGGTACCACAT	C	T41813156A	FKBP10	NM_021939.4(FKBP10):c.122_156del:p.Leu41fs	coding	Pathogenic
17	41817047	T	TC	A41817056C	FKBP10	NM_021939.4(FKBP10):c.246-3dup	noncoding	Benign/Likely_benign
17	41817125	GGCCTCATGGGCATGTGTGTCAACGAGCGGCGAC	G	G41817133T	FKBP10	NM_021939.4(FKBP10):c.321_353del:p.Met107_Leu117del	coding	Pathogenic
17	41818955	C	CAA	G41818975A	FKBP10	NM_021939.4(FKBP10):c.728-237_728-236dup	noncoding	Benign
17	41818955	C	CA	G41818975A	FKBP10	NM_021939.4(FKBP10):c.728-236dup	noncoding	Benign
17	41819627	C	CGGAGAATT	A41819636G	FKBP10	NM_021939.4(FKBP10):c.1016_1023dup:p.Thr342fs	coding	Pathogenic
17	41820469	CGG	C	G41820477C	FKBP10	NM_021939.4(FKBP10):c.1256+16_1256+17del	noncoding	Benign
17	41821111	CT	C	T41821140G	FKBP10	NM_021939.4(FKBP10):c.1399+51del	noncoding	Benign/Likely_benign
17	41821111	CTT	C	T41821139G	FKBP10	NM_021939.4(FKBP10):c.1399+50_1399+51del	noncoding	Benign
17	41821111	CTTT	C	T41821138G	FKBP10	NM_021939.4(FKBP10):c.1399+49_1399+51del	noncoding	Benign
17	41821111	CTTTT	C	T41821137G	FKBP10	NM_021939.4(FKBP10):c.1399+48_1399+51del	noncoding	Benign
17	41845860	ATTCT	A	T41845866C	KLHL10	NM_152467.5(KLHL10):c.1302+123_1302+126del	noncoding	Pathogenic
17	41945343	CA	C	A41945362T	ODAD4	NM_031421.5(ODAD4):c.1145+140del	noncoding	Benign
17	41965442	AC	A	C41965443G	ODAD4	NM_031421.5(ODAD4):c.1979del:p.Thr660fs	coding	Pathogenic
17	41990222	TG	T	G41990224T	DNAJC7	NM_003315.4(DNAJC7):c.599+41del	noncoding	Benign
17	42000413	CT	C	T42000415G	DNAJC7	NM_003315.4(DNAJC7):c.166+68del	noncoding	Benign
17	42201524	GCA	G	C42201553A	STAT5B	NM_012448.4(STAT5B):c.*184TG[14]	noncoding	Benign
17	42207487	GCA	G	C42207524A	STAT5B	NM_012448.4(STAT5B):c.2077+33TG[18]	noncoding	Benign
17	42211982	AC	A	C42211985T	STAT5B	NM_012448.4(STAT5B):c.1680+1del	noncoding	Pathogenic
17	42217442	T	TC	A42217444C	STAT5B	NM_012448.4(STAT5B):c.1191dup:p.Asn398fs	coding	Pathogenic
17	42223504	TGGAG	T	G42223506T	STAT5B	NM_012448.4(STAT5B):c.424_427del:p.Leu142fs	coding	Pathogenic
17	42227378	TA	T	A42227393G	STAT5B	NM_012448.4(STAT5B):c.285+150del	noncoding	Benign
17	42315621	T	TA	T42315630A	STAT3	NM_139276.3(STAT3):c.*123dup	noncoding	Benign
17	42325969	A	AT	G42325977T	STAT3	NM_139276.3(STAT3):c.1365+146dup	noncoding	Benign/Likely_benign
17	42325969	ATTTT	A	T42325973G	STAT3	NM_139276.3(STAT3):c.1365+143_1365+146del	noncoding	Benign/Likely_benign
17	42329376	AC	A	C42329380A	STAT3	NM_139276.3(STAT3):c.1281+33del	noncoding	Benign
17	42339255	C	CA	T42339273A	STAT3	NM_139276.3(STAT3):c.468+42dup	noncoding	Benign
17	42345403	C	CT	A42345413T	STAT3	NM_139276.3(STAT3):c.372+147dup	noncoding	Benign
17	42477679	TG	T	G42477681A	ATP6V0A1	NM_001130021.3(ATP6V0A1):c.445del:p.Glu149fs	coding	Pathogenic
17	42536320	C	CGGGGCCG	G42536333C	NAGLU	NM_000263.4(NAGLU):c.54_60dup:p.Ala21fs	coding	Pathogenic
17	42536326	C	CG	C42536332G	NAGLU	NM_000263.4(NAGLU):c.59dup:p.Ala21fs	coding	Pathogenic
17	42536337	CAGGCGACGAGGCCCGGG	C	A42536343G	NAGLU	NM_000263.4(NAGLU):c.71_87del:p.Asp24fs	coding	Pathogenic
17	42536406	CG	C	G42536408C	NAGLU	NM_000263.4(NAGLU):c.136del:p.Ala46fs	coding	Pathogenic
17	42536462	AC	A	C42536464T	NAGLU	NM_000263.4(NAGLU):c.192del:p.Tyr65fs	coding	Pathogenic
17	42536483	GGCGCGGCGCGCGTGCGGGT	G	G42536491T	NAGLU	NM_000263.4(NAGLU):c.219_237del:p.Arg74fs	coding	Pathogenic/Likely_pathogenic
17	42536488	GGC	G	C42536494T	NAGLU	NM_000263.4(NAGLU):c.222_223del:p.Val75fs	coding	Pathogenic
17	42536490	CGCGCGTGCGGGTGCGCGGCTCCACGG	C	C42536494T	NAGLU	NM_000263.4(NAGLU):c.222_247del:p.Val75fs	coding	Pathogenic
17	42536520	TGGCGGCCGCCGCGG	T	G42536524T	NAGLU	NM_000263.4(NAGLU):c.252_265del:p.Ala86fs	coding	Pathogenic
17	42536585	GGCTCTCA	G	C42536589G	NAGLU	NM_000263.4(NAGLU):c.317_323del:p.Ser106fs	coding	Pathogenic
17	42537420	TGCAC	T	C42537424A	NAGLU	NM_000263.4(NAGLU):c.410_413del:p.Thr137fs	coding	Pathogenic
17	42538428	G	GCACA	C42538434A	NAGLU	NM_000263.4(NAGLU):c.623_626dup:p.Trp210fs	coding	Pathogenic
17	42538442	G	GC	T42538448C	NAGLU	NM_000263.4(NAGLU):c.640dup:p.Leu214fs	coding	Pathogenic
17	42538448	T	TG	C42538450G	NAGLU	NM_000263.4(NAGLU):c.642dup:p.Pro215fs	coding	Pathogenic
17	42538449	GC	G	C42538455T	NAGLU	NM_000263.4(NAGLU):c.648del:p.Ser217fs	coding	Pathogenic
17	42538703	AT	A	T42538704G	NAGLU	NM_000263.4(NAGLU):c.713del:p.Met238fs	coding	Pathogenic
17	42540996	T	TTTAACTG	C42541006A	NAGLU	NM_000263.4(NAGLU):c.814_820dup:p.Ser274Ter	coding	Pathogenic
17	42541003	GT	G	T42541005C	NAGLU	NM_000263.4(NAGLU):c.820del:p.Ser274fs	coding	Pathogenic
17	42541137	CAGCCA	C	A42541138C	NAGLU	NM_000263.4(NAGLU):c.953_957del:p.Gln318fs	coding	Pathogenic
17	42543067	TC	T	C42543069A	NAGLU	NM_000263.4(NAGLU):c.1063del:p.Gln355fs	coding	Pathogenic/Likely_pathogenic
17	42543178	A	AT	A42543180T	NAGLU	NM_000263.4(NAGLU):c.1173dup:p.Thr392fs	coding	Pathogenic
17	42543205	AG	A	G42543206C	NAGLU	NM_000263.4(NAGLU):c.1200del:p.Gln400fs	coding	Pathogenic/Likely_pathogenic
17	42543341	CG	C	G42543342A	NAGLU	NM_000263.4(NAGLU):c.1336del:p.Glu446fs	coding	Pathogenic
17	42543430	TG	T	G42543431A	NAGLU	NM_000263.4(NAGLU):c.1425del:p.Thr476fs	coding	Pathogenic/Likely_pathogenic
17	42543455	T	TG	T42543460G	NAGLU	NM_000263.4(NAGLU):c.1453dup:p.Val485fs	coding	Pathogenic
17	42543465	C	CA	C42543467A	NAGLU	NM_000263.4(NAGLU):c.1460dup:p.His487fs	coding	Pathogenic
17	42543778	TG	T	G42543779T	NAGLU	NM_000263.4(NAGLU):c.1773del:p.Leu591_Leu592insTer	coding	Pathogenic
17	42543819	G	GCACTGGA	G42543828A	NAGLU	NM_000263.4(NAGLU):c.1815_1821dup:p.Glu608fs	coding	Pathogenic
17	42563043	T	TA	C42563045A	COASY	NM_025233.7(COASY):c.422dup:p.Tyr141Ter	coding	Pathogenic
17	42565581	A	AC	A42565588C	COASY	NM_025233.7(COASY):c.1485+19dup	noncoding	Benign
17	42577338	CTG	C	T42577339A	PSMC3IP	NM_016556.4(PSMC3IP):c.136-38_136-37del	noncoding	Benign
17	42611837	AAG	A	G42611845C	TUBG1	NM_001070.5(TUBG1):c.331-237AG[3]	noncoding	Benign
17	42683801	A	AT	G42683802T	CNTNAP1	NM_003632.3(CNTNAP1):c.68-20_68-19insT	noncoding	Benign
17	42686377	T	TA	T42686385A	CNTNAP1	NM_003632.3(CNTNAP1):c.900+243dup	noncoding	Benign
17	42690523	C	CAA	G42690543A	CNTNAP1	NM_003632.3(CNTNAP1):c.1856-198_1856-197dup	noncoding	Benign
17	42690523	C	CA	G42690543A	CNTNAP1	NM_003632.3(CNTNAP1):c.1856-197dup	noncoding	Benign
17	42692958	C	CT	G42692975T	CNTNAP1	NM_003632.3(CNTNAP1):c.2752+254dup	noncoding	Benign
17	42696324	AT	A	T42696340G	CNTNAP1	NM_003632.3(CNTNAP1):c.3474+188del	noncoding	Benign
17	42697640	G	GCTCC	C42697646T	CNTNAP1	NM_003632.3(CNTNAP1):c.3657_3660dup:p.Leu1221fs	coding	Pathogenic
17	42697883	TG	T	G42697885T	CNTNAP1	NM_003632.3(CNTNAP1):c.3815-18del	noncoding	Benign
17	42698445	A	ATG	C42698482T	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-172TG[19]	noncoding	Benign
17	42698445	A	ATGTG	C42698482T	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-172TG[20]	noncoding	Benign
17	42698445	ATGTG	A	T42698478C	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-172TG[16]	noncoding	Benign
17	42698445	ATGTGTG	A	T42698476C	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-172TG[15]	noncoding	Benign
17	42698534	C	CGT	A42698569G	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-83GT[18]	noncoding	Benign
17	42698534	C	CGTGT	A42698569G	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-83GT[19]	noncoding	Benign
17	42698534	CGT	C	G42698567A	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-83GT[16]	noncoding	Benign
17	42698534	CGTGT	C	G42698565A	CNTNAP1	NM_003632.3(CNTNAP1):c.3863-83GT[15]	noncoding	Benign
17	42784926	TG	T	G42784936C	WNK4	NM_032387.5(WNK4):c.1171-161del	noncoding	Benign
17	42784926	T	TGG	C42784937G	WNK4	NM_032387.5(WNK4):c.1171-162_1171-161dup	noncoding	Benign
17	42901031	A	ATCTTCAGGAAGCTGTGGGCATTAAACTCCTTTGGGTAGCTGTGATTGGAGACTGGCTCAACCTCG	T42901101C	G6PC1	NM_000151.4(G6PC1):c.160_224dup:p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer	coding	Pathogenic
17	42901083	CT	C	T42901084G	G6PC1	NM_000151.4(G6PC1):c.208del:p.Trp70fs	coding	Pathogenic
17	42904001	CT	C	T42904002G	G6PC1	NM_000151.4(G6PC1):c.302del:p.Leu101fs	coding	Pathogenic
17	42904022	AC	A	C42904024T	G6PC1	NM_000151.4(G6PC1):c.324del:p.Cys109fs	coding	Pathogenic
17	42907582	ACT	A	C42907585T	G6PC1	NM_000151.4(G6PC1):c.403_404del:p.Leu135fs	coding	Pathogenic
17	42909305	GC	G	C42909306T	G6PC1	NM_000151.4(G6PC1):c.450del:p.Cys150_Leu151insTer	coding	Pathogenic
17	42909350	A	ATGTC	A42909363T	G6PC1	NM_000151.4(G6PC1):c.503_506dup:p.Arg170fs	coding	Pathogenic
17	42909404	C	CT	G42909406T	G6PC1	NM_000151.4(G6PC1):c.549dup:p.Gly184fs	coding	Pathogenic
17	42910943	CAT	C	A42910944C	G6PC1	NM_000151.4(G6PC1):c.592_593del:p.Ile198fs	coding	Pathogenic
17	42911108	CA	C	A42911109T	G6PC1	NM_000151.4(G6PC1):c.757del:p.Ile253fs	coding	Pathogenic/Likely_pathogenic
17	42998447	TG	T	G42998449T	RPL27	NM_000988.5(RPL27):c.-25del	noncoding	Benign
17	43041662	GCCCCACCTGTCTGGGATTCAGTGGGTCTGGGAATTTGCATATCTAACAAATTCCTAGGTGATGGTGTTGCCCCCTCACACTCCTATCAGGGGATCATGCTTTGAGAGCCTCTGCACTGAACTGTAAATGTTAAGCTGTCATATCATTTTGAGTCCTTGAAACCATGTCTCCACAGTTCATATTCCCCAGCCACCAGAGTCGGGAGGATCTCTCTCCAGATCTTGATTCCTACCAGTCCCTTAAACAATTGCTTACATTTTCCTGATCCTCCAGACATTCAGGATCAGCCCCTCTACACCTCCCCAATCCCTGCTCTCCATAGGAGCTGTTTCTAGTTTTCCTTAATTTTCTATTTGGCCAGATTCGTTGCTTTAATTTTCTCCTTGTTACAGGCAGAGTTACAGGCTGTTCAAGAAAACCAGGCATCACTGTAGTGGAAGGGGTTGCCGGCTCAGCCATTTTCCAGTAGTCTTTGATAAGTGAGCCCCCACATTCCCTGGGCAGCAGGCCCCATTCTCTAGGGCTTCTTTGCATAAATCTGCAGCTCCCCCTCATCCTGCCATTCTGTGTGTGCCATCTGCCTCTGGGGCTGACCTTATCTGCTCCTCGCAGCCTTCAGAGGACACCTTCTGGGCAGTTTGGCTCCTTCTGCTCCAACCACCCCAACATTGATTCCTTTCTTTTTCTCCTGCATATTTTTGAGGTGATACTTTGTTGATGATTCTGGTTGCATTTTTTAAGAGGGACATAATCTGCCAGAGCTCTTCTCTAGGCCCCCTCCCTGTGCCTGCATGATAATCCTTTCTCCTCCTTCCTTTCCAGCTTCTTTGTAGAAGTTTGTTTTGTAAAATGAGATAAAGGCAGTACAGGAACTAGTTCCCAATTGCTGCTGTGCCCAGAGAGGGCTAGAGATTGCGGGGTGGAAAAGTGGGAGGACATCTTAAAGTCAGAGGTCAAAGCAACGTGTATTAACTCCATCATCAGGTAGCACTCTTAACCTGGGCCAGGCACCATGAGGCCAGGGCCTGAACTTGACTTCTGGGAAAGGTTATGCAGAGCTTGAAACAGATGGGGTATATGTTTGTTGGGAGACCTTAGAGACAATTACAGAAAACTTTAATGTATTTTAGTCATCTTTGCTTTTACTCACTATTCCTGAAAAGGCAGGCTGTACTAGATGGATACTGCTTTTCCTATTAACCCATTAGTGATGGGGTCAGAAGGCTGAGGCCTGGCTTACCCTCAAGGCCCAGTAGCACTTCTGCTTGCTTCCCGCCTGCCTTTACTACTAACACCGAGACTCATCAACTCACTGGCAGGTAGACAGGGAGCTGGCATGGGCCCTTGGGAAGTCAAGCTGTAGGTGAGGATGAACTGGAAGGCTTTGACAACTAAGATACACAGTCATAAGCTGGGAAGCCAGAGAGAAGTGGAAACAGCAGCCATGATCCACTCCTGTAAGACCCTTTGCCTGACATGGGGCTGCTTTTACTGTCTCCTACTGTGGCCCAAAAGGGAAGTGAGTGTGAGTTCCCCTCAAAATCTAGTTCTCTCTCCAAATTCCCTTAAGGCTTGAACCTTCTGTCCCGGGGTCAGTGACAGAGGCAGATGGAAAGCTGATGATGGGAACAGAAAGGTGGCTTTGGGTCTCCATGTAGTCATTTTTAGCTGTGCAAATCTGAGTAAAATCTTACAAACAAGGAACTTGAGATTCAACTCCCATTTTTCCAATGAGGTAACAAATACCCACTTCATAGGGCTATGATGAAGACTGATATAAAATGTAATATTGGCAGTTAGCTCCATTTTCTCTATCTTCCTTCACTGTTTCCAGCAAATACAGCAGGACTGAACTATGTGATGACTTCATTCTCTTTGCTCAAAAAGGATTCCAATCTCTGAGCAGTGTGAGGACCAGGAAATAATGGTAGAGAGTGTCATCTGTGGATTAAGCATGTTAAATACAAGTGGTAGGCAGAATTCTAAAGATGTCCTCCCTTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTGGCCTCATGAAACCTGAAACAAAGAAACAGTTGAGCCACCTCAGACTTCTGACCTTGCAACAATTTGTTTTGGCAGCAACAGGAAATACAAAAGGTATTTAAGCTGCCTCAATAAATCCTAGGAGGTAGATACTATCATTACCCCCATTTTACAGAGTGGGAGACTGAAGCACAGTGAAAAGGCTCTGAGAAAGTCGGCTGGCCTAAGTCTCAAGAACAGTCATTCATGGTGGAAGTGTTTGCTACCAAGTTTATTTGCAGTGTTAACAGCACAACATTTACAAAACGTATTTTGTACAATCAAGTCTTCACTGCCCTTGCACACTGGGGGGGCTAGGGAAGACCTAGTCCTTCCAACAGCTATAAACAGTCCTGGATAATGGGTTTATGAAAAACACTTTTTCTTCCTTCAGCAAGCAAAATTATTTATGAAGCTGTATGGTTTCAGCAACAGGGAGCAAAGGAAAAAAATCACCTCAAAGAAAGCAACAGCTTCCTTCCTGGTGGGATCTGTCATTTTATAGATATGAAATATTCATGCCAGAGGTCTTATATTTTAAGAGGAATGGATTATATACCAGAGCTACAACAATAAACATTTTACTTATTACTAATGAGGAATTAGAAGACTGTCTTTGGAAACCGGTTCTTGAAAATCTTCTGCTGTTTTAGAACACATTCTTTAGAAATCTAGCAAATATATCTCAGACTTTTAGAAATCTCTTCTAGTTTCATTTTCCTTTTTTTTTTTTTTTTTTTGAGCCACAGTCTCACTGTCACCCAGGCTGGAGTGCCGTGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGCTGAAGTGATTCTCCTGCCTTAGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCTGTGCTTCCAGCCCTAAGCCAACAACAGCCTGAATAGAAAGAATAGGGCTGATAAATAATGAATCAGCATCTTGCTCAATTGGTGGCGTTTAAATGGTTTTAAAATCTTCTCAGGTGAAAAATTACCATAATTTTGTGCTCATGGCAGATTTCCAAGGGAGACTTCAAGCAGAAAATCTTTAAGGGACCCTTGCATAGCCAGAAGTCCTTTTCAGGCTGATGTACATAAAATATTTAGTAGCCAGGACAGTAGAAGGACTGAAGAGTGAGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGAGGCTAGAGTGTGATGGCGCAATCTCGGCTCATTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCTGCCTCCTGAGTAGCTGGAATTACAGGCACATGCCATCACACCCAGCTA	TG	G43041662T	BRCA1	NM_007294.3(BRCA1):c.5468-285_*4016delinsCA	noncoding	Pathogenic
17	43045672	CTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAAT	C	A43045676T	BRCA1	Single_allele	noncoding	Pathogenic
17	43045675	CAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGAGGCTAGAGTGTGATGGCGCAATCTCGG	C	A43045676C	BRCA1	NM_007294.4(BRCA1):c.5468-191_*2del	noncoding	Pathogenic
17	43045744	TACACTGTCCAACACCCACTCTCGGGT	ACTCTACCAGTG	T43045744A	BRCA1	NM_007294.4(BRCA1):c.5500_5526delinsCACTGGTAGAGT:p.Thr1834_Val1842delinsHisTrpTer	coding	Pathogenic
17	43045753	CA	C	A43045755C	BRCA1	NM_007294.4(BRCA1):c.5516del:p.Leu1839fs	coding	Pathogenic
17	43045755	AC	A	C43045756A	BRCA1	NM_007294.4(BRCA1):c.5514del:p.Leu1839fs	coding	Pathogenic
17	43045772	AC	A	C43045774A	BRCA1	NM_007294.4(BRCA1):c.5497del:p.Val1832_Val1833insTer	coding	Pathogenic
17	43045793	TG	T	G43045794C	BRCA1	NM_007294.4(BRCA1):c.5476del:p.Gln1826fs	coding	Pathogenic/Likely_pathogenic
17	43045800	TTGC	T	C43045803G	BRCA1	NM_007294.4(BRCA1):c.5468-1_5469del	coding	Pathogenic
17	43045810	CAG	C	G43045814A	BRCA1	NM_007294.4(BRCA1):c.5468-10_5468-9del	noncoding	Benign/Likely_benign
17	43045922	A	AT	G43045941T	BRCA1	NM_007294.4(BRCA1):c.5468-121dup	noncoding	Benign
17	43047626	ACATGCAGGCACCTTAC	A	C43047631G	BRCA1	NM_007294.4(BRCA1):c.5467+1_5467+16del	noncoding	Pathogenic/Likely_pathogenic
17	43047638	CTTACCATGGAAGCCATTGTCCTCTGTCCAGGCATCTGGCTGCACAACCACAATTGGGTGGACACCCTGGATCCCCAGGAAGGAAAGAGCATTCAAAGTGTCAAAGTAGGACTACTGGAACTGTCACTTCATCATTTTT	C	A43047641T	BRCA1	NM_007294.4(BRCA1):c.5407-73_5467+4del	noncoding	Pathogenic
17	43047660	TCTGTCCAGGCATCTGG	T	T43047664C	BRCA1	NM_007294.4(BRCA1):c.5434_5449del:p.Pro1812fs	coding	Pathogenic
17	43047670	CATCTGGCT	C	A43047671G	BRCA1	NM_007294.4(BRCA1):c.5432_5439del:p.Gln1811fs	coding	Pathogenic
17	43047677	CT	C	T43047678G	BRCA1	NM_007294.4(BRCA1):c.5432del:p.Gln1811fs	coding	Pathogenic
17	43049120	CTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGAT	C	T43049121C	BRCA1	NM_007294.4(BRCA1):c.5333_5406del:p.Asp1778fs	noncoding	Pathogenic
17	43051098	AT	A	T43051101C	BRCA1	NM_007294.4(BRCA1):c.5296del:p.Ile1766fs	coding	Pathogenic
17	43051114	AG	A	G43051115A	BRCA1	NM_007294.4(BRCA1):c.5280del:p.Phe1761fs	coding	Pathogenic
17	43057048	TTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTTCCTTCAATGGAAGTGGAGCAGACACGTCATATTTAAGGCATTCAGGCCAGGCGCAGTGGCTCACCCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGTCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTTTTGAATGCAGGAGGTGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCCATCTCGCATCTCAAAAAATTAAAAATAAAATTAAAAAAAAAAAAATTAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTTAAAATACAAAAAAATTAGCCGGGTGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATCACGCCACTGCACTCCAGCCTGGGCAACTGAGCGAGACTCCGTCTCAAAACAAACAAACAAACAAACAAAAAAACCAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCATGAGAATTGCTGGAATCCAGGAGGCAGAGGTTGCTGTGAGCCACG	T	T43057049A	BRCA1	NM_007294.4(BRCA1):c.5194-836_5277+3del	noncoding	Pathogenic
17	43057048	TTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTTCCTTCAATGGAAGTGGAGCAGACACGTCATATTTAAGGCATTCAGGCCAGGCGCAGTGGCTCACCCCTGTA	T	T43057049A	BRCA1	NM_007294.4(BRCA1):c.5194-119_5277+3del	noncoding	Pathogenic
17	43057049	TACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGC	T	A43057050T	BRCA1	NM_007294.4(BRCA1):c.5194-1_5277+2del	noncoding	Pathogenic
17	43057049	TACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAG	T	C43057051A	BRCA1	NM_007294.4(BRCA1):c.5194-42_5277+2del	noncoding	Pathogenic
17	43057055	TC	T	C43057056T	BRCA1	NM_007294.4(BRCA1):c.5273del:p.Arg1758fs	coding	Pathogenic
17	43057056	CTG	C	G43057058C	BRCA1	NM_007294.4(BRCA1):c.5271_5272del:p.Asp1757fs	coding	Pathogenic
17	43057061	C	CTG	G43057064T	BRCA1	NM_007294.4(BRCA1):c.5266_5267dup:p.Gln1756fs	coding	Pathogenic
17	43057100	TC	T	C43057102A	BRCA1	NM_007294.4(BRCA1):c.5228del:p.Gly1743fs	coding	Pathogenic
17	43057126	C	CA	T43057131A	BRCA1	NM_007294.4(BRCA1):c.5202dup:p.Glu1735Ter	coding	Pathogenic
17	43060763	T	TCCCAAAGTGCTGGGATTATAGGCACGAGCCACCACACACGACCAACATTGGCCTATCTTTTAAAAAATAAACCAAGCTCTGGCCGGGCACAGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGTTGAGGTGGTTGGATCACTTGAGTTCAGGAGTTTGAGACCAGCCTGACCAACGTGGTAAAACCCCATCTCTACTAAAAATAAAAACTAGTCGGGTGTGGTAGCACGCGTGCCTGTAATACCAGCTACTCAGGAGGCCAAGGCAGGAGAATTGCTTGAACCCAGGAGACAGAGTTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGGATAGAGGGAGACACCATCTCAAAAAAACCAAAATACAGAAATCAAAAAACCACACTCATTATTACCTCAAGACCTTTATGTTTGCTATTCCTCTGCCTATAAGATGCATTCCCTTCATTTTTCAAGGACAATTATTTCTTGTTATTTAGGTCTCAGCTCAATTTTTTCAGAAAGGCTTTCCCTGGCCTCCTTAAACGAAAGTAATCAACAACCTTTGACAGCTAATACTATTCCACTGTTCTGTATATTTCTCCATAGCATTTATTGTTATCTTAAATTCATCTTTATTGTGTATCTCCCCTCGACAGAACCTGAATCCTACCAGGGACTTAGTTAGTCTTATTTACTGTTGCATTCCTAGTGCCCAGAACACAGTAGGCTCCCAATAAATAGCCACTGAATAAAAGTTAAAACCAACAAAAATAATCATTTAATTAATTATGAATACATCGAATTGTGCACAATAGTTTATAAAATTACTTTTTTTTTTTTTTTAAGACAGGGTCTCATTCTGTCTCACAGGCTGGAGTGCAGTGGTGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTAGGATTACAGGCACATGCCACCACGCTCGACTAATTTTTTTGTGTTTTTAGTAGAGACAAGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCTTCTGGCTTAGCTTCCTCAGTAGCTAAGACTACAGAAGCACACTGCCATGCCCGGCTAATTAAAAAAAAATTTTGTGGAGACAGAGTCTCACTATGTTGCCCAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCTTCCTGTCTCAGCCTCCCAAAGGGCTGAGATTATAAGTGTGAGCCACTGCATCTGGACTGCATATTAATATGAAGAGCTTTTCTTCAACAACAGTGAACAGTTTTCTACAAAGGTATATGCAAGTGGGCCCACTTCTTGTTCTTATGAATCTTTTCTTTCCTTTTATAAAACTCCTTTTCCTTTCTCTTTTCCCCAAAGAAAGGACTGTTTCTTTTGAAATCTAGAACAAATGAGAACAGAGGATATCCTGGTTTGCGCTGCAAAATTTTTTTTTTTTTTAAGACGGAGTCTCGCTCTGTTGCCAGGTTGGAGTGCAGTGGCACGATCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTAAAGGCGCATGCCACCACGCTGAGTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAGGCAATCTGCCTGTCTTGGCCTCCCACAGTGTTAGGATTACAGGCATGAGCCACTGCACCCGATTTTTTTTTTCTTTTGATGGAGTTTTGCTCTTGTTGCCCAGGTTAGAGTGCAATGATGCGATCTCAGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCAAGTGCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAAACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACATCAGGTGATCCAAGCGCCTCAGCCTCCCAAAGCGCTGGGATTATAGGTATGAGCCACAGTGCAGGCCTGCATAATTCTTGATGATCCTCATTATCATGGAAAATTTGTGCATTGTTAAGGAAAGTGGTGCATTGATGGAAGGAAGCAAATACATTTTTAACTATATGACTGAATGAATATCTCTGGTTAGTTTGTAACATCAAGTACTTACCTCATTCAGCATTTTTCTTTCTTTAATAGACTGGGTCACCCCTAAAGAGATCATAGAAAAGACAGGTTACATACAGCAGAAGAACGTGCTCTTTTCACGGAGATAGAGAGGTCAGCGATTCACAAAAGAGCACAGGAAGAATGACAGAGGAGAGGTCCTTCCCTCTAAAGCCACAGCCCTTTAATAAGGCTTGTAGCAGCAGTTTCCTTCTGGAGACAGAGTTGATGTTTAATTTAAACATTATAAGTTTGCCTGCTGCACATGGATTCCTGCCGACTATTAAATAAATCCCTAGCTCATATGCTAACATTGCTAGGAGCAGATTAGGTCCTATTAGTTATAAAAGAGACCCATTTTCCCAGCATCACCAGCTTATCTGAACAAAGTGATATTAAAGATAAAAGTAGTTTAGTATTACAATTAAAGACCTTTTGGTAACTCAGACTCAGCATCAGCAAAAACCTTAGGTGTTAAACGTTAGGTGTAAAAATGCAATTCTGAGGTGTTAAAGGGAGGAGGGGAGAAATAGTATTATACTTACAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCATCTGCAGAATGAAAAACACTCAAAGGATTAGAAGTTGAAAACAAAATCAGGAAGTGCTGTCCTAAGAAGCTAAAGAGCCTCAGTTTTTTACACTCCCAAGATCAATCTGGATTTATGATTCTAAAACCCCTGGTGACAGAATCAGAGGCTGAAAACACCACTAATTATAACCAGCAGGTATGGATATTTGGAAGTCTAGGGGAGGCTGATATGAAGTTAAGACCAGAGGAAATATCTGTCCACTCCCTCTTCTCAACACCCATCTTCTAGACGCCAAGGCTAGCTATAGATCTCCATTATAGTGTTCAAGGAATTAGGAATTATCCATGTCAATAGTTTTGATTAATGTGGACGGAGAACATCTATATTACTAGATGGCAATATGTGAAAGAAGAAAACAGTATTGTTGAAAACCTAAATCTGAAATGTCAATGTAATGACAAATTTTCACCCCTAGAATGTCTACCTGGGGAGTCCTAACCCTCTAATATTCCCCTGAGAGGGATGGGAGAATACAGTGCAGAGCTTTTATATAAGTATTTCAGAAAGCAGTAGCTAAAGAATCACTTGTTTATTTCCCAGTGTTTCAAAGGCCCTTCTGAAGAACTAAGCAAACTAAGGAAAGACCATTTAGTTTTAAACAGGAGAAATGTATTTAACTAAATCCTAAACACAGCAGGCTATCTGCAAGCAGCAGCAGCAGCAGCAGCCATGCTCCCTCACAGAATCCTTACAATTTTTGAAGTTTTTTGTTTAACTGCTACAAAAGCCGATTTAGTAACATTTATTACACTTAAAAACTTCAGTTCATTTGTAGTTCAAAGCAAATGTATTGGCTTTGAGTTTAAAGACTGAACTACTTTAGATTTGATTTGCATTTTTTTTTTTTTTTTTTTTTGAGATGCAGTCTTGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCTGGATCTCAGCTCACGGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCCCCCAAAGCGCTGGGATTACAGGCCTGAGCCACCACGCTTGGCATCTTTTTACCTTTCATTAACTTTGATGCAAACCTATAGCTTAAGGTATCTTAAACTTTAATGACATTTTTCTCTAAAATAGTAGTTTGTAATAACTTGTTCTGGCACCTGGCTCCAATGAACACTACCCTCTGACCCTGTGGTATAATTTTCATGAGTAAGTGGAAACCTAAGATCTTAGAAGTTCAACGGCAATGTGTCCAAGGGGTTTAGATCCTCTCCTTAAGTGCCTGTATCTCTGTGAAAAGAATCATCATAGGCTAGGCGCGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACCTGAGGTCGGGAGTCCAAGACCAGCCTGACTGACATGGAAAAACCCTGTCTCTACTAAAAATACAAAATTAGGTATGGTGGTGCATTCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGC	T43066737C	BRCA1	NM_007294.4(BRCA1):c.5074+872_5193+2569dup	noncoding	Pathogenic
17	43063328	CTTACCTCATTCAGCATTTTTCTTTCTTTAATAGACTGGGTCACCCCTAAAGAGATCATAGAAAAGACAGGTTACATACAGCAGAAGAACGTGCTCTTTTCACGGAGATAGAGAGGTCAGCGA	C	A43063331C	BRCA1	NM_007294.4(BRCA1):c.5153-77_5193+4del	noncoding	Pathogenic
17	43063330	TACCTCATTCAGCATTTTTCTTTCTTTAATAGACTGGGTCACCCCTAAAGAGATCATAGAAAAGACAGGTTACATACAGCAGAAGAACGTGCTCTTTTCACGGAGATAGAGAGGTCAGCGATTCACAAAAGAGCACAGGAAGAATGACAGAGGAGAGGTCCTTCCCTCTAAAGCCACAGCCCTTTAATAAGGCTTGTAGCAGCAGTTTCCTTCTGGAGACAGAGTTGATGTTTAATTTAAACATTATAAGTTTGCCTGCTGCACATGGATTCCTGCCGACTATTAAATAAATCCCTAGCTCATATGCTAACATTGCTAGGAGCAGATTAGGTCCTATTAGTTATAAAAGAGACCCATTTTCCCAGCATCACCAGCTTATCTGAACAAAGTGATATTAAAGATAAAAGTAGTTTAGTATTACAATTAAAGACCTTTTGGTAACTCAGACTCAGCATCAGCAAAAACCTTAGGTGTTAAACGTTAGGTGTAAAAATGCAATTCTGAGGTGTTAAAGGGAGGAGGGGAGAAATAGTATTATACTTACAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCATCTGCAGAATGAAAAACACTCAAAGGATTAGAAGTTGAAAACAAAATCAGGAAGTGCTGTCCTAAGAAGCTAAAGAGCCTCAGTTTTTTACACTCCCAAGATCAATCTGGATTTATGATTCTAAAACCCCTGGTGACAGAATCAGAGGCTGAAAACACCACTAATTATAACCAGCAGGTATGGATATTTGGAAGTCTAGGGGAGGCTGATATGAAGTTAAGACCAGAGGAAATATCTGTCCACTCCCTCTTCTCAACACCCATCTTCTAGACGCCAAGGCTAGCTATAGATCTCCATTATAGTGTTCAAGGAATTAGGAATTATCCATGTCAATAGTTTTGATTAATGTGGACGGAGAACATCTATATTACTAGATGGCAATATGTGAAAG	T	C43063332A	BRCA1	NM_007294.4(BRCA1):c.5075-390_5193+2del	noncoding	Pathogenic
17	43063330	T	TA	C43063332A	BRCA1	NM_007294.4(BRCA1):c.5193+2dup	noncoding	Pathogenic
17	43063339	C	CAGCATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG	A43063357T	BRCA1	NM_007294.4(BRCA1):c.5186_5187insCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATGCT:p.Asn1730fs	coding	Pathogenic
17	43063365	GGGTCACCCCTAAAGAGATCATAGAAAA	G	G43063367A	BRCA1	NM_007294.4(BRCA1):c.5153-19_5160del	coding	Pathogenic
17	43063871	TACAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCATCTGCAGAATGAAAAACACTCAAAGGATTAGAAGTTGAAAACAAAATCAGGAAGTGCTGTCCTAAGAAGCTAAAGAGCCTCAGTTTTTTACACTCCCAAGATCAATCTGGATTTATGATTCTAAAACCCCTGGTGACAGAATCAGAGGCTGAAAACACCACTAATTATAACCAGCAGGTATGGATATTTGGAAGTCTAGGGGAGGCTGATATGAAGTTAAGACCAGAGGAAATATCTGTCCACTCCCTCTTCTCAACACCCATCTTCTAGACGCCAAGGCTAGCTATAGATCTCCATTATAGTGTTCAAGGAATTAGGAATTATCCATGTCAATAGTTTTGATTAATGTGGACGGAGAACATCTATATTACTAGATGGCAATATGTGAAAGAAGAAAACAGTATTGTTGAAAACCTAAATCTGAAATGTCAATGTAATGACAAATTTTCACCCCTAGAATGTCTACCTGGGGAGTCCTAACCCTCTAATATTCCCCTGAGAGGGATGGGAGAATACAGTGCAGAGCTTTTATATAAGTATTTCAGAAAGCAGTAGCTAAAGAATCACTTGTTTATTTCCCAGTGTTTCAAAGGCCCTTCTGAAGAACTAAGCAAACTAAGGAAAGACCATTTAGTTTTAAACAGGAGAAATGTATTTAACTAAATCCTAAACACAGCAGGCTATCTGCAAGCAGCAGCAGCAGCAGCAGCCATGCTCCCTCACAGAATCCTTACAATTTTTGAAGTTTTTTGTTTAACTGCTACAAAAGCCGATTTAGTAACATTTATTACACTTAAAAACTTCAGTTCATTTGTAGTTCAAAGCAAATGTATTGGCTTTGAGTTTAAAGACTGAACTACTTTAGATTTGATTTGCATTTTTTTTTTTTTTTTTTTTTGAGATGCAGTCTTGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCTGGATCTCAGCTCACGGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCCCCCAAAGCGCTGGGATTACAGGCCTGAGCCACCACGCTTGGCATCTTTTTACCTTTCATTAACTTTGATGCAAACCTATAGCTTAAGGTATCTTAAACTTTAATGACATTTTTCTCTAAAATAGTAGTTTGTAATAACTTGTTCTGGCACCTGGCTCCAATGAACACTACCCTCTGACCCTGTGGTATAATTTTCATGAGTAAGTGGAAACCTAAGATCTTAGAAGTTCAACGGCAATGTGTCCAAGGGGTTTAGATCCTCTCCTTAAGTGCCTGTATCTCTGTGAAAAGAATCATCATAGGCTAGGCGCGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACCTGAGGTCGGGAGTCCAAGACCAGCCTGACTGACATGGAAAAACCCTGTCTCTACTAAAAATACAAAATTAGGTATGGTGGTGCATTCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGC	T	A43063872C	BRCA1	NM_007294.4(BRCA1):c.4987-1331_5152+2del	noncoding	Pathogenic
17	43063881	GCTAA	G	A43063885C	BRCA1	NM_007294.4(BRCA1):c.5141_5144del:p.Val1714fs	coding	Pathogenic
17	43063887	TA	CC	T43063887C	BRCA1	NM_007294.4(BRCA1):c.5138_5139delinsGG:p.Val1713Gly	coding	Pathogenic
17	43063905	AATTCCTAG	T	A43063905T	BRCA1	NM_007294.4(BRCA1):c.5113_5121delinsA:p.Leu1705fs	coding	Pathogenic
17	43063908	TC	T	C43063910T	BRCA1	NM_007294.4(BRCA1):c.5117del:p.Gly1706fs	coding	Pathogenic
17	43063933	TCACA	T	C43063938A	BRCA1	NM_007294.4(BRCA1):c.5089_5092del:p.Cys1697fs	coding	Pathogenic/Likely_pathogenic
17	43063933	T	TCA	A43063942C	BRCA1	NM_007294.4(BRCA1):c.5091_5092dup:p.Glu1698fs	coding	Pathogenic
17	43067629	T	TAG	T43067632A	BRCA1	NM_007294.4(BRCA1):c.5051_5052dup:p.Thr1685fs	coding	Pathogenic
17	43067631	G	GTC	T43067637C	BRCA1	NM_007294.4(BRCA1):c.5049_5050dup:p.Thr1684fs	coding	Pathogenic
17	43067647	GA	G	A43067648T	BRCA1	NM_007294.4(BRCA1):c.5034del:p.Asn1678_Leu1679insTer	coding	Pathogenic
17	43067654	T	TAAAGTGATGTGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCNNNNNNNNNNAAAAGAAAAAAAAGAAAAAG	T43067669G	BRCA1	NM_007294.4(BRCA1):c.5027_5028insCTTTTTCTTTTTTTTCTTTTNNNNNNNNNNGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCACATCACTTT:p.Leu1676delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleSerTer	coding	Pathogenic
17	43067689	C	CG	A43067691G	BRCA1	NM_007294.4(BRCA1):c.4992dup:p.Val1665fs	coding	Pathogenic
17	43067836	A	AT	A43067856T	BRCA1	NM_007294.4(BRCA1):c.4987-142dup	noncoding	Benign
17	43067836	A	ATT	A43067856T	BRCA1	NM_007294.4(BRCA1):c.4987-143_4987-142dup	noncoding	Benign
17	43067836	A	ATTTT	A43067856T	BRCA1	NM_007294.4(BRCA1):c.4987-145_4987-142dup	noncoding	Benign
17	43067890	T	TAA	T43067913A	BRCA1	NM_007294.4(BRCA1):c.4987-197_4987-196dup	noncoding	Benign
17	43067890	T	TA	T43067913A	BRCA1	NM_007294.4(BRCA1):c.4987-196dup	noncoding	Benign
17	43070966	T	TA	T43070967A	BRCA1	NM_007294.4(BRCA1):c.4947_4948insT:p.Met1650fs	coding	Pathogenic
17	43070980	CT	C	T43070983C	BRCA1	NM_007294.4(BRCA1):c.4933del:p.Arg1645fs	coding	Pathogenic
17	43070984	CT	C	T43070985G	BRCA1	NM_007294.4(BRCA1):c.4929del:p.Glu1644fs	coding	Pathogenic
17	43071035	CA	C	A43071036T	BRCA1	NM_007294.4(BRCA1):c.4878del:p.Asn1626fs	coding	Pathogenic
17	43071041	AC	A	C43071044A	BRCA1	NM_007294.4(BRCA1):c.4872del:p.Tyr1625fs	coding	Pathogenic
17	43071051	A	AC	T43071052C	BRCA1	NM_007294.4(BRCA1):c.4862_4863insG:p.Asp1621fs	coding	Pathogenic
17	43071114	CA	C	A43071116T	BRCA1	NM_007294.4(BRCA1):c.4799del:p.Ala1599_Leu1600insTer	coding	Pathogenic
17	43071132	TG	T	G43071134T	BRCA1	NM_007294.4(BRCA1):c.4781del:p.Pro1594fs	coding	Pathogenic/Likely_pathogenic
17	43071145	AC	A	C43071146A	BRCA1	NM_007294.4(BRCA1):c.4768del:p.Val1590fs	coding	Pathogenic
17	43071173	C	CAGAAGGATCAGATTCAGGGTCATCAGAGAAG	G43071207A	BRCA1	NM_007294.4(BRCA1):c.4710_4740dup:p.Glu1581delinsLeuLeuTer	coding	Pathogenic
17	43071197	CAG	C	G43071201A	BRCA1	NM_007294.4(BRCA1):c.4715_4716del:p.Phe1571_Ser1572insTer	coding	Pathogenic
17	43074336	TC	T	C43074337T	BRCA1	NM_007294.4(BRCA1):c.4669del:p.Asp1557fs	coding	Pathogenic
17	43074337	CT	C	T43074339G	BRCA1	NM_007294.4(BRCA1):c.4668del:p.Asp1557fs	coding	Pathogenic
17	43074351	TA	T	A43074353G	BRCA1	NM_007294.4(BRCA1):c.4654del:p.Tyr1552fs	coding	Pathogenic
17	43074359	T	TTC	C43074362T	BRCA1	NM_007294.4(BRCA1):c.4645_4646dup:p.Thr1550fs	coding	Pathogenic/Likely_pathogenic
17	43074374	TG	T	G43074376C	BRCA1	NM_007294.4(BRCA1):c.4631del:p.Pro1544fs	coding	Pathogenic
17	43074377	CCCAGA	C	C43074379T	BRCA1	NM_007294.4(BRCA1):c.4624_4628del:p.Ser1542fs	coding	Pathogenic
17	43074397	GC	G	C43074398T	BRCA1	NM_007294.4(BRCA1):c.4608del:p.Glu1536fs	coding	Pathogenic
17	43074416	C	CTTAATGA	G43074424T	BRCA1	NM_007294.4(BRCA1):c.4583_4589dup:p.Lys1530delinsAsnHisTer	coding	Pathogenic
17	43074418	TA	T	A43074420T	BRCA1	NM_007294.4(BRCA1):c.4587del:p.Lys1530fs	coding	Pathogenic
17	43074443	GT	G	T43074446C	BRCA1	NM_007294.4(BRCA1):c.4562del:p.Asn1521fs	coding	Pathogenic
17	43074460	T	TCC	A43074464C	BRCA1	NM_007294.4(BRCA1):c.4544_4545dup:p.Ser1516fs	coding	Pathogenic
17	43074490	CA	C	A43074491T	BRCA1	NM_007294.4(BRCA1):c.4515del:p.Asp1505fs	coding	Pathogenic
17	43074492	TC	T	C43074493T	BRCA1	NM_007294.4(BRCA1):c.4513del:p.Asp1505fs	coding	Pathogenic
17	43074514	GGGATGACCTAGAAAGAT	G	G43074515A	BRCA1	NM_007294.4(BRCA1):c.4485-10_4491del	coding	Pathogenic
17	43076485	TACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGC	T	A43076486T	BRCA1	NM_007294.4(BRCA1):c.4358-1_4484+2del	noncoding	Pathogenic
17	43076496	T	TCCTGGTTCTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A43076514T	BRCA1	NM_007294.4(BRCA1):c.4475_4476insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGAACCAGG:p.Gly1492_Val1493insAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
17	43076504	C	CTTTAT	T43076513A	BRCA1	NM_007294.4(BRCA1):c.4463_4467dup:p.Glu1490fs	coding	Pathogenic
17	43076504	CT	C	T43076507A	BRCA1	NM_007294.4(BRCA1):c.4467del:p.Glu1490fs	coding	Pathogenic
17	43076521	G	GAACT	T43076527A	BRCA1	NM_007294.4(BRCA1):c.4447_4450dup:p.Ser1484Ter	coding	Pathogenic
17	43076602	GAAGTT	G	G43076605T	BRCA1	NM_007294.4(BRCA1):c.4365_4369del:p.Leu1455fs	coding	Pathogenic
17	43076607	TA	T	A43076609T	BRCA1	NM_007294.4(BRCA1):c.4364del:p.Val1454_Leu1455insTer	coding	Pathogenic
17	43076612	CT	C	T43076613G	BRCA1	NM_007294.4(BRCA1):c.4359del:p.Val1454fs	coding	Pathogenic
17	43082404	CT	C	T43082409C	BRCA1	NM_007294.4(BRCA1):c.4356del:p.Ala1453fs	coding	Pathogenic/Likely_pathogenic
17	43082418	CT	C	T43082421G	BRCA1	NM_007294.4(BRCA1):c.4342del:p.Ser1448fs	coding	Pathogenic
17	43082451	GAA	G	A43082452G	BRCA1	NM_007294.4(BRCA1):c.4308_4309del:p.Ser1437fs	coding	Pathogenic
17	43082463	AT	A	T43082464G	BRCA1	NM_007294.4(BRCA1):c.4297del:p.Ile1432_Ile1433insTer	coding	Pathogenic/Likely_pathogenic
17	43082465	GATGGAAGGGTAGCTGTTAGAAGGCT	G	A43082466G	BRCA1	NM_007294.4(BRCA1):c.4271_4295del:p.Gln1424fs	coding	Pathogenic/Likely_pathogenic
17	43082507	TA	T	A43082509C	BRCA1	NM_007294.4(BRCA1):c.4253del:p.Val1417_Leu1418insTer	coding	Pathogenic
17	43082523	TC	T	C43082524A	BRCA1	NM_007294.4(BRCA1):c.4237del:p.Glu1413fs	coding	Pathogenic
17	43082543	C	CT	A43082547T	BRCA1	NM_007294.4(BRCA1):c.4217dup:p.Leu1407fs	coding	Pathogenic
17	43082547	A	ATCAGGTTATGTTGCATGGTATCC	C43082571T	BRCA1	NM_007294.4(BRCA1):c.4191_4213dup:p.Ile1405delinsArgIleProCysAsnIleThrTer	coding	Pathogenic
17	43084850	ACCAAAATGCTTCACAGGCTGTATTAGTCACTACTGTCACAACCATCACATCTAACCTCTACGTGGCCATTACATAAATCAGAAAAAGTAGTGGGGTAATTATTAATAGATAACTTTCCTTTGGGTTTCCCAAAGGAATTATTTTTTATAACTTAGACAAATTCCCCAGCAGGTAAGTGGCCAAATACATTAGGGAGAATAAAACCAATAGGTTTCTAAGACTTCTTGATTCTAATTCTGAAGTGCTCCTTCAATTAGCTCTAGCCTTCTACTTCTACTATGCTGCTCTGATCTCTACTTTTAATACAGCTACATTACTGTAGAAGTTCCCTAAAAGCCTTGTTTATCATGTCTTTTTCTTCCATAAAGACCCTTAGTGCTCCATCCTGGCCATCACAGTGAAACACTGGCTGAGGCAGAAGAATCACTTGAACCCAGGTGGCGGAAGTGCAGTGAGCTGAGATCGTGCCACGGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAGAAAAGAAAAAAACCCTTAGTGGTATACCACTGCTGATTTATACTTTTTGAACACTATATAATTGTTAGTCATTACTGCCATTAGGATAAAATTCCTCAACATAGCATTCAAAAGGCCCTTTATACCCTGGTATTATCTCTCATTTCTCCCAACACCCCTCACACAAGTTGTTTTCCTATAACACATGACAACTTTACGTTTCCTGGGAATTCCATGACTCTGTACCTTTACCTTACTTGCTGCCACTCCTCTTTTTCCACTTGGAAAAATTCTCATCTTTCAAGGCCTAGTTTGAATGTCTCCTTAAGTCCCCACCAGGAGGAGTTGTGAAATATGAGAAGTAAGGGCAAGTGGGCAGAATGTGGCTAATTCTAATAAGACTCCTGAAATGTGCAGCAGAGCAGCCGGAACTGGTCTGGAGGGAAGCAGAGTGTATATCTGACCCTTGTTTGTTCACATTCATTACATATAAATATATATATAAAACCTTCCCATAAAACATGTGTATTTAATGAGTTAAAACTATTTCTAATGTTCCTACTACTACATAATAAGCCTAATCCAGATACAAGCTGAAGTCTTAGCACAAATAGTGGCTTTATCATGCTAGTTTTGTCGACATGTTGTGAATATTTTCAAATATACAGAAAACTTGAAGCAACTTTGCAATGAGTGTTTATATATCTACTACTTAGAATCTATAATTAACATTTCCTATATTTATTTTATCACATACATACACACACACACACACACACACACACACACACACACACAGAAGTCCCCACCAATAATCCATCTCCTATCGGGAACAGATGATCTCTCACTACTTGATTTACATTGCTAATGCATTAGTATACCCAAATGGAACACATGACCTTGATAGGAGGAAGCTTCCCTTAATCATATTTGTCTCCCTAATGCCTAGCAGACAGTAAGCACTCAGCAAGTGTTTATTAATGAGAAGATAAATTAATAAATAAGTATAGTTAATCAGTCTTCTGTAAAAACAAACAAAAACCCAGATATCAATGATACCAAATTAGGAATTCTCTATCATCTATATACTTTTTCTCGGTTCAGTACAAAAAGGGAAAAAAAAATCCCACTTCAATAGTTTTTCCTGCCTGTGCTACTTTAGACGTAAGACAGCCTGAAATCTGACTTCAACGGTTTTGGGTAGATGCTTAGTAAAAACACGTTGCAAAATGAATCCTGAACAAATAGACACATCTCTGGGAATAAGATTAGAAATACAGAAAAACAAGGACATTGTATATTGAATGTCAAATATAATACAGTATGGCTAAGGCAGATGTAATCAGAAATTGCAACCTTAAACTTTAAAACACAATGGACAGAATTAGATGATGGGTATATTGACAGAGTCCCAAACCCACATTCAAAAAGGATCATAGGAATTGCAAAGAGAGAAAAGGCCTCCTAAATCTTTTCATCAATTTAGTTGCCATGGCAATCCTGAAGAAGTGGAGAATACTGGTGACAGCTCAGATACAGAGTGGGGAGTCATCTCAAAGGTTTCTTGACAACTCCAAGGGGCTTCAGGTCTAGAGGGATTTGCTCTGTACAGAGAATGGGCAGTAGAAGATAAGCCTTCTCTAATTGTAGTTCTCATAGCAATGCAAGATTTAGATTTTAAAACTGGATATCACCCAGTGTTGGCAAGGTACAGGAAAATGGGAACTATCATATACCACAGGGGCTGGAAGAGCATAAACTGGTTTAATCTTTCTAAAAAACAATTTAGTAACATGTATCAAACACCAAAATCCTAGTCCCAGTAATTTAGACTAAGGAAATAATCAGGGATGTAGGCAAATATTTAGCTATCAGGATGCCACTATAGTGATGTACATAATAGCAAACTGTGCCTCTTACCCTGAAACCTCCAACATTCAGCAATAGGTCAAATAAATCATGATACACTGGAAAGATAGAATCCCATATAGTAATTAAAAATGAAGTCACTTAAGAATTTTAACGACCCAGGCTGAGTGCGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGTCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCGGGAGGCAGAGGATGCGGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAAAGAAAAAAGAATTTTAATGATCCAGTAAAAGCTAGATTATAATGCACAGAATTATCTGGATTTCTTGTTTTTGAGACAGGGTCTCACCATATCACCCAGGATGGAGTGCAGTGGCACCATCATGGCTCACCACGGCCTCAACTTGCTGGGATCAAGCAATCCTACCCCAGCCACTCAAGTAGCTGAGACTACAGGTGTGCACCACTAAGCCTCACTAATTTTTTTTTTTTTCCCAGACAGGGGTTGCCCAGAACAGAGTGCAGTAGCGTGATCACAACTCACTGCAGCCTTGACCTCCGGGGCTCAGGCAATCTTCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCCTAGTAACCACTATTCTACCTTCCATCCTATGAATTTATCTTTTTTTTTTTTTTAACTGCTCCTTGTGGAGCAAGGCTTATCTATAGGCAATGTACCCAGAGTAACCAAATGTAACTATTCTAGGTATCTCATATAAGTGGAAGCATATAACATGTGTCCTTTGGTGTCCGGTTTATTTCAGTTAACACAATGTCTTCAAGGTTCGTCCATGGATGATTTTTGTTTATCTGTATTTTCTAAGTTTTCTATGATGCACATATATAACTTTATAAGAATATCAGGCTTTTCTCAACTTCATCTAATCTGACTTCAGAAAGTTCATAAAAAAACATCATTCACTTACTAGCAGCTAAAAGGGTATTTAAGATTTAGGTGGGAAAAAGAAGCCACAGCAGGATGAATCGAGGGGGTCTGAACAGCTTCATTTTAAGAATGTGCCTACGGCAGGTCAGAGAACATAAGCAAACTGTCTAAGATCACATAGCCCAGTACAGAACTCTCACCAATATTATTGCCAGCAACTGCTGTGTGTGTATTCTGCATAGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAAAAAAAAAATTAGGAGAAAGAGCCTGGTTCTATGATGAAGATGATATTCATTTTTAGACGTTGTGATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGTCAAAGAAACCAAAAAGAAAAAAATAACTAGATTTTAAAAGGGAAAAAAAAAAAGAAGAAGAGAAAGAAGTATCCACAAAACAGTGAAAGGCTAGATGGTCTCTATTAGGAAGAGAACCCTATAGTCTCCAACTTGGTACCAAGAATAAACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAGTTCCATCAAGGTGCTTACAGTCTAATTTAAGGAGACAATGAACCACAAACAATTGTGCCATTAATTCAAAGAGATGATGTCAGCAAACCTAAGAATGTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTGGCTTTCAGACTGATGCCTCATTTGTTTGGAAGAACCAATCAAGAAAGGATCCTGGGTGTTTGTATTTGCAGTCAAGTCTTCCAATTCACTGCACTGTGAAGAAAACAAGCTAGCAGAACATTTTGTTTCCTCACTAAGGTGATGTTCCTGAGATGCCTTTGCCAATATTACCTGGTTACTGCAGTCATTTAAGCTATTCTTCAATGATAATAAATTCTCCTCTGTGTTCTTAGACAGACACTCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTTGGAAGCAGGGAAGCTCTTCATCCTCACTAGATAAGTTCTCTTCTGAGGACTCTAATTTCTTGGCCCCTCTTCGGTAACCCTGAGCCAAATGTGTATGGGTGAAAGGGCTAGGACTCCTGCTAAGCTCTCCTTTCTGGACGCTTTTGCTAAAAACAGCAGAACTTTCCTTAATGTCATTTTCAGCAAAACTAGTATCTTCCTTTATTTCACCATCATCTAACAGGTCATCAGGTGTCTCAGAACAAACCTGAGATGCATGACTACTTCCCATAGGCTGTTCTAAGTTATCTGAAATCAGATATGGAGAGAAATCTGTATTAACAGTCTGAACTACTTCTTCATATTCTTGCTTTTTTATTTCAGGATGCTTACAATTACTTCCAGGAAGACTTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCATTCAATTTTGGCCCTCTGTTTCTACCTAGTTCTGCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTACTTCATTAATATTGCTTGAGCTGGCTTCTTTAAAAACATTTTCTCTAATGTTATTACGGCTAATTGTGCTCACTGTACTTGGAATGTTCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTCTAGCAGATTTTTCTTACATTTAGTTTTAACAAATGACTTGATGGGAAAAAGTGGTGGTATACGATATGGGTTTTGTAAAAGTCCATGTTTATTTGGAGTAATGAGTCCAGTTTCGTTGCCTCTGAACTGAGATGATAGACAAAACCTAGAGCCTCCTTTGATACTACATTTGGCATTATCAACTGGCTTATCTTTCTGACCAACCACAGGAAAGCCTGCAGTGATATTAACTGTCTGTACAGGCTTGATATTAGACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCTTTTACTTGTCTGTTCATTTGGCTTGTTACTCTTCTTGGCTCCAGTTGCAGGTTCTTTACCTTCCATGAGTTGTAGGTTTCTGCTGTGCCTGACTGGCATTTGGTTGTACTTTTTTTTCTTTATCTCTTCACTGCTAGAACAACTATCAATTTGCAATTCAGTACAATTAGGTGGGCTTAGATTTCTACTGACTACTAGTTCAAGCGCATGAATATGCCTGGTAGAAGACTTCCTCCTCAGCCTATTCTTTTTAGGTGCTTTTGAATTGTGGATATTTAATTCGAGTTCCATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCC	A	C43084852A	BRCA1	NM_007294.4(BRCA1):c.1385_4186-2276del	noncoding	Pathogenic
17	43090937	TTTTTA	T	T43090938C	BRCA1	NM_007294.4(BRCA1):c.4185+2_4185+6del	noncoding	Pathogenic
17	43090939	TTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTGGCTTTCAGACTGATGCCTCATTTGTTTGGAAGAACCAATCAAGAAAGGATCCTGGGTGTTTGTATTTGCAGTCAAGTCTTCCAATTCACTGCACTGTGAAGAAAACAAGCTAGCAGAACATTTTGTTTCCTCACTAAGGTGATGTTCCTGAGATGCCTTTGCCAATATTACCTGGTTACTGCAGTCATTTAAGCTATTCTTCAATGATAATAAATTCTCCTCTGTGTTCTTAGACAGACACTCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTTGGAAGCAGGGAAGCTCTTCATCCTCACTAGATAAGTTCTCTTCTGAGGACTCTAATTTCTTGGCCCCTCTTCGGTAACCCTGAGCCAAATGTGTATGGGTGAAAGGGCTAGGACTCCTGCTAAGCTCTCCTTTCTGGACGCTTTTGCTAAAAACAGCAGAACTTTCCTTAATGTCATTTTCAGCAAAACTAGTATCTTCCTTTATTTCACCATCATCTAACAGGTCATCAGGTGTCTCAGAACAAACCTGAGATGCATGACTACTTCCCATAGGCTGTTCTAAGTTATCTGAAATCAGATATGGAGAGAAATCTGTATTAACAGTCTGAACTACTTCTTCATATTCTTGCTTTTTTATTTCAGGATGCTTACAATTACTTCCAGGAAGACTTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCATTCAATTTTGGCCCTCTGTTTCTACCTAGTTCTGCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTACTTCATTAATATTGCTTGAGCTGGCTTCTTTAAAAACATTTTCTCTAATGTTATTACGGCTAATTGTGCTCACTGTACTTGGAATGTTCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTCTAGCAGATTTTTCTTACATTTAGTTTTAACAAATGACTTGATGGGAAAAAGTGGTGGTATACGATATGGGTTTTGTAAAAGTCCATGTTTATTTGGAGTAATGAGTCCAGTTTCGTTGCCTCTGAACTGAGATGATAGACAAAACCTAGAGCCTCCTTTGATACTACATTTGGCATTATCAACTGGCTTATCTTTCTGACCAACCACAGGAAAGCCTGCAGTGATATTAACTGTCTGTACAGGCTTGATATTAGACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCTTTTACTTGTCTGTTCATTTGGCTTGTTACTCTTCTTGGCTCCAGTTGCAGGTTCTTTACCTTCCATGAGTTGTAGGTTTCTGCTGTGCCTGACTGGCATTTGGTTGTACTTTTTTTTCTTTATCTCTTCACTGCTAGAACAACTATCAATTTGCAATTCAGTACAATTAGGTGGGCTTAGATTTCTACTGACTACTAGTTCAAGCGCATGAATATGCCTGGTAGAAGACTTCCTCCTCAGCCTATTCTTTTTAGGTGCTTTTGAATTGTGGATATTTAATTCGAGTTCCATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCTCTACTGATTTGGAGTGAACTCTTTCACTTTTACATATTAAAGCCTCATGAGGATCACTGGCCAGTAAGTCTATTTTCTCTGAAGAACCAGAATATTCATCTACCTCATTTAGAACGTCCAATACATCAGCTACTTTGGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAGTTCATCACTTCTGGAAAACCACTCATTAACTTTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGAGCATGGCAGTTTCTGCTTATTCCATTCTTTTCTCTCACACAGGGGATCAGCATTCAGATCTACCTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTA	T	A43090942T	BRCA1	NM_007294.4(BRCA1):c.705_4185+4del	noncoding	Pathogenic
17	43090957	AT	A	T43090958G	BRCA1	NM_007294.4(BRCA1):c.4171del:p.Ile1391fs	coding	Pathogenic
17	43091042	CA	C	A43091047C	BRCA1	NM_007294.4(BRCA1):c.4097-11del	noncoding	Benign
17	43091042	C	CA	C43091048A	BRCA1	NM_007294.4(BRCA1):c.4097-11dup	noncoding	Benign
17	43091332	TAACTA	T	A43091333T	BRCA1	NM_007294.4(BRCA1):c.4096+98_4096+102del	noncoding	Benign/Likely_benign
17	43091445	A	ATCCATGCTTTG	C43091457T	BRCA1	NM_007294.4(BRCA1):c.4075_4085dup:p.Ser1363fs	coding	Pathogenic
17	43091459	CTTCTT	C	T43091460G	BRCA1	NM_007294.4(BRCA1):c.4067_4071del:p.Gln1356fs	coding	Pathogenic
17	43091476	TC	T	C43091478A	BRCA1	NM_007294.4(BRCA1):c.4054del:p.Glu1352fs	coding	Pathogenic
17	43091522	C	CA	C43091524A	BRCA1	NM_007294.4(BRCA1):c.4008dup:p.Asp1337Ter	coding	Pathogenic/Likely_pathogenic
17	43091527	AGA	GC	A43091527G	BRCA1	NM_007294.4(BRCA1):c.4002_4004delinsGC:p.Leu1335fs	coding	Pathogenic
17	43091548	GA	G	A43091549C	BRCA1	NM_007294.4(BRCA1):c.3982del:p.Ser1328fs	coding	Pathogenic
17	43091551	TG	T	G43091552A	BRCA1	NM_007294.4(BRCA1):c.3979del:p.Gln1327fs	coding	Pathogenic
17	43091555	GC	G	C43091557T	BRCA1	NM_007294.4(BRCA1):c.3975del:p.Arg1325fs	coding	Pathogenic
17	43091560	AT	A	T43091563G	BRCA1	NM_007294.4(BRCA1):c.3970del:p.Gln1323_Met1324insTer	coding	Pathogenic
17	43091616	G	GT	C43091618T	BRCA1	NM_007294.4(BRCA1):c.3914dup:p.Asp1305fs	coding	Pathogenic
17	43091660	AT	A	T43091664G	BRCA1	NM_007294.4(BRCA1):c.3870del:p.Lys1290fs	coding	Pathogenic
17	43091707	A	AT	A43091710T	BRCA1	NM_007294.4(BRCA1):c.3823dup:p.Ile1275fs	coding	Pathogenic
17	43091708	T	TA	T43091709A	BRCA1	NM_007294.4(BRCA1):c.3822_3823insT:p.Ile1275fs	coding	Pathogenic
17	43091727	AT	A	T43091730A	BRCA1	NM_007294.4(BRCA1):c.3803del:p.Asn1268fs	coding	Pathogenic
17	43091758	TC	T	C43091760T	BRCA1	NM_007294.4(BRCA1):c.3772del:p.Glu1258fs	coding	Pathogenic
17	43091762	C	CTGTGTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT	A43091772T	BRCA1	NM_007294.4(BRCA1):c.3768_3769insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACACA:p.Thr1256_Glu1257insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrXaaXaaXaaXaaLysLysLysLysLysLysLysAsnThr	coding	Pathogenic
17	43091771	T	TAA	G43091773A	BRCA1	NM_007294.4(BRCA1):c.3759_3760insTT:p.Lys1254fs	coding	Pathogenic
17	43091817	AG	A	G43091819T	BRCA1	NM_007294.4(BRCA1):c.3713del:p.Pro1238fs	coding	Pathogenic
17	43091851	TG	T	G43091853A	BRCA1	NM_007294.4(BRCA1):c.3679del:p.Gln1227fs	coding	Pathogenic
17	43091897	AG	A	G43091899A	BRCA1	NM_007294.4(BRCA1):c.3633del:p.Ser1212fs	coding	Pathogenic
17	43091914	G	GC	T43091919C	BRCA1	NM_007294.4(BRCA1):c.3616dup:p.Ala1206fs	coding	Pathogenic
17	43091939	A	AAT	G43091942A	BRCA1	NM_007294.4(BRCA1):c.3590_3591dup:p.Leu1198fs	coding	Pathogenic
17	43091978	CTCCTT	C	C43091981T	BRCA1	NM_007294.4(BRCA1):c.3548_3552del:p.Lys1183fs	coding	Pathogenic
17	43092012	ACTTTC	A	T43092016A	BRCA1	NM_007294.4(BRCA1):c.3514_3518del:p.Glu1172fs	coding	Pathogenic
17	43092046	TC	T	C43092047T	BRCA1	NM_007294.4(BRCA1):c.3484del:p.Asp1162fs	coding	Pathogenic
17	43092054	TA	T	A43092055T	BRCA1	NM_007294.4(BRCA1):c.3476del:p.Ile1159fs	coding	Pathogenic
17	43092084	TG	T	G43092085T	BRCA1	NM_007294.4(BRCA1):c.3446del:p.Thr1149fs	coding	Pathogenic
17	43092171	A	AC	A43092172C	BRCA1	NM_007294.4(BRCA1):c.3359_3360insG:p.Val1120_Asn1121insTer	coding	Pathogenic/Likely_pathogenic
17	43092193	T	TA	T43092195A	BRCA1	NM_007294.4(BRCA1):c.3337dup:p.Tyr1113fs	coding	Pathogenic/Likely_pathogenic
17	43092201	C	CTT	A43092208T	BRCA1	NM_007294.4(BRCA1):c.3328_3329dup:p.Gln1111fs	coding	Pathogenic
17	43092219	CT	C	T43092221A	BRCA1	NM_007294.4(BRCA1):c.3311del:p.Lys1104fs	coding	Pathogenic
17	43092241	CTTTG	C	G43092245A	BRCA1	NM_007294.4(BRCA1):c.3286_3289del:p.Gln1096fs	coding	Pathogenic
17	43092268	A	AC	T43092273C	BRCA1	NM_007294.4(BRCA1):c.3262dup:p.Val1088fs	coding	Pathogenic
17	43092273	T	TGCAA	A43092274G	BRCA1	NM_007294.4(BRCA1):c.3257_3258insTTGC:p.Leu1086fs	coding	Pathogenic
17	43092304	CTG	C	G43092306T	BRCA1	NM_007294.4(BRCA1):c.3225_3226del:p.Asn1075fs	coding	Pathogenic
17	43092320	CT	C	T43092321G	BRCA1	NM_007294.4(BRCA1):c.3210del:p.Glu1071fs	coding	Pathogenic
17	43092353	CAT	C	A43092354T	BRCA1	NM_007294.4(BRCA1):c.3176_3177del:p.Asn1059fs	coding	Pathogenic
17	43092364	GA	G	A43092365G	BRCA1	NM_007294.4(BRCA1):c.3166del:p.Ser1056fs	coding	Pathogenic
17	43092394	TC	T	C43092395A	BRCA1	NM_007294.4(BRCA1):c.3136del:p.Glu1046fs	coding	Pathogenic
17	43092395	C	CCAGTAGTT	A43092396C	BRCA1	NM_007294.4(BRCA1):c.3135_3136insAACTACTG:p.Glu1046fs	coding	Pathogenic
17	43092429	AT	A	T43092433C	BRCA1	NM_007294.4(BRCA1):c.3101del:p.Asn1034fs	coding	Pathogenic
17	43092433	TCT	AC	T43092433A	BRCA1	NM_007294.4(BRCA1):c.3096_3098delinsGT:p.Arg1032_Glu1033insTer	coding	Pathogenic
17	43092478	TTCTCA	T	C43092480T	BRCA1	NM_007294.4(BRCA1):c.3048_3052del:p.Asn1016fs	coding	Pathogenic
17	43092514	TG	T	G43092515T	BRCA1	NM_007294.4(BRCA1):c.3016del:p.His1006fs	coding	Pathogenic
17	43092521	C	CA	G43092525A	BRCA1	NM_007294.4(BRCA1):c.3009dup:p.Glu1004Ter	coding	Pathogenic
17	43092569	AC	A	C43092570T	BRCA1	NM_007294.4(BRCA1):c.2961del:p.Lys987fs	coding	Pathogenic
17	43092593	TACGATATGGGTTTTGTAAAAGTCCATGTTTA	GTCCATG	T43092593G	BRCA1	NM_007294.4(BRCA1):c.2907_2938delinsCATGGAC:p.Lys970fs	coding	Pathogenic
17	43092594	AC	A	C43092595G	BRCA1	NM_007294.4(BRCA1):c.2936del:p.Arg979fs	coding	Pathogenic
17	43092600	TG	T	G43092603T	BRCA1	NM_007294.4(BRCA1):c.2930del:p.Pro977fs	coding	Pathogenic
17	43092620	G	GT	A43092624T	BRCA1	NM_007294.4(BRCA1):c.2910dup:p.His971fs	coding	Pathogenic
17	43092631	G	GT	A43092633T	BRCA1	NM_007294.4(BRCA1):c.2899dup:p.Thr967fs	coding	Pathogenic
17	43092633	AAT	A	A43092634G	BRCA1	NM_007294.4(BRCA1):c.2896_2897del:p.Ile966fs	coding	Pathogenic
17	43092673	CA	C	A43092677C	BRCA1	NM_007294.4(BRCA1):c.2857del:p.Cys953fs	coding	Pathogenic
17	43092693	GATACTAC	G	A43092696T	BRCA1	NM_007294.4(BRCA1):c.2831_2837del:p.Cys944fs	coding	Pathogenic
17	43092693	GA	T	G43092693T	BRCA1	NM_007294.4(BRCA1):c.2837_2838delinsA:p.Ile946fs	coding	Pathogenic
17	43092695	TACTAC	T	C43092697T	BRCA1	NM_007294.4(BRCA1):c.2831_2835del:p.Cys944fs	coding	Pathogenic
17	43092697	CT	C	T43092698A	BRCA1	NM_007294.4(BRCA1):c.2833del:p.Ser945fs	coding	Pathogenic
17	43092738	CACAGGAAAGCCTGCAGTGATATT	C	C43092740A	BRCA1	NM_007294.4(BRCA1):c.2770_2792del:p.Asn924fs	coding	Pathogenic
17	43092743	GA	G	A43092746G	BRCA1	NM_007294.4(BRCA1):c.2787del:p.Pro930fs	coding	Pathogenic
17	43092759	A	AG	T43092760G	BRCA1	NM_007294.4(BRCA1):c.2771_2772insC:p.Ile925fs	coding	Pathogenic
17	43092778	T	TG	T43092779G	BRCA1	NM_007294.4(BRCA1):c.2752_2753insC:p.Lys918fs	coding	Pathogenic
17	43092792	ATTCT	A	T43092796C	BRCA1	NM_007294.4(BRCA1):c.2735_2738del:p.Lys912fs	coding	Pathogenic
17	43092812	CCT	C	C43092813T	BRCA1	NM_007294.4(BRCA1):c.2717_2718del:p.Lys906fs	coding	Pathogenic
17	43092847	TG	T	G43092848T	BRCA1	NM_007294.4(BRCA1):c.2683del:p.Gln895fs	coding	Pathogenic
17	43092876	GAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAA	G	A43092878T	BRCA1	NM_007294.4(BRCA1):c.2606_2654del:p.Phe869fs	coding	Pathogenic
17	43092895	TC	T	C43092896T	BRCA1	NM_007294.4(BRCA1):c.2635del:p.Glu879fs	coding	Pathogenic
17	43092904	CCTGGATTTGAAAACGGAGCAAATGACTG	C	C43092905G	BRCA1	NM_007294.4(BRCA1):c.2599_2626del:p.Gln867fs	coding	Pathogenic
17	43092906	TG	T	G43092908A	BRCA1	NM_007294.4(BRCA1):c.2624del:p.Pro875fs	coding	Pathogenic/Likely_pathogenic
17	43092909	A	AT	G43092913T	BRCA1	NM_007294.4(BRCA1):c.2621dup:p.Asn874fs	coding	Pathogenic
17	43092940	GA	G	A43092943C	BRCA1	NM_007294.4(BRCA1):c.2590del:p.Ser864fs	coding	Pathogenic
17	43092991	AT	A	T43092994C	BRCA1	NM_007294.4(BRCA1):c.2539del:p.Met847fs	coding	Pathogenic
17	43093000	CT	C	T43093002G	BRCA1	NM_007294.4(BRCA1):c.2530del:p.Ser844fs	coding	Pathogenic
17	43093050	TTC	T	C43093052G	BRCA1	NM_007294.4(BRCA1):c.2479_2480del:p.Glu827fs	coding	Pathogenic
17	43093053	T	TA	G43093054A	BRCA1	NM_007294.4(BRCA1):c.2477_2478insT:p.Glu827fs	coding	Pathogenic
17	43093056	GTC	TTA	G43093056T	BRCA1	NM_007294.4(BRCA1):c.2473_2475delinsTAA:p.Asp825Ter	coding	Pathogenic
17	43093080	A	AC	A43093083C	BRCA1	NM_007294.4(BRCA1):c.2450dup:p.Cys818fs	coding	Pathogenic
17	43093114	GCA	G	A43093118T	BRCA1	NM_007294.4(BRCA1):c.2415_2416del:p.Ala806fs	coding	Pathogenic
17	43093165	CT	C	T43093166A	BRCA1	NM_007294.4(BRCA1):c.2365del:p.Ser789fs	coding	Pathogenic
17	43093188	T	TAG	T43093189A	BRCA1	NM_007294.4(BRCA1):c.2342_2343insCT:p.Glu781fs	coding	Pathogenic
17	43093224	AAT	A	T43093226C	BRCA1	NM_007294.4(BRCA1):c.2305_2306del:p.Ile769fs	coding	Pathogenic
17	43093235	TC	T	C43093236T	BRCA1	NM_007294.4(BRCA1):c.2295del:p.Ser766fs	coding	Pathogenic/Likely_pathogenic
17	43093244	ATC	A	C43093246T	BRCA1	NM_007294.4(BRCA1):c.2285_2286del:p.Arg762fs	coding	Pathogenic
17	43093268	CT	C	T43093269C	BRCA1	NM_007294.4(BRCA1):c.2262del:p.Glu755fs	coding	Pathogenic
17	43093274	T	TTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGC	G43093360A	BRCA1	NM_007294.4(BRCA1):c.2174_2256dup:p.Ser753delinsAlaPheGlnGluLysLysLysLysArgAsnTer	coding	Pathogenic
17	43093286	CT	C	T43093289G	BRCA1	NM_007294.4(BRCA1):c.2244del:p.Asp749fs	coding	Pathogenic
17	43093310	AC	A	C43093311A	BRCA1	NM_007294.4(BRCA1):c.2220del:p.Ser741fs	coding	Pathogenic
17	43093311	C	CATTA	C43093313T	BRCA1	NM_007294.4(BRCA1):c.2219_2220insTAAT:p.Ser741fs	coding	Pathogenic
17	43093343	CT	C	T43093345C	BRCA1	NM_007294.4(BRCA1):c.2187del:p.Glu730fs	coding	Pathogenic
17	43093352	GA	G	A43093354G	BRCA1	NM_007294.4(BRCA1):c.2178del:p.Pro727fs	coding	Pathogenic
17	43093365	GACAA	G	C43093367T	BRCA1	NM_007294.4(BRCA1):c.2162_2165del:p.Phe721fs	coding	Pathogenic
17	43093367	CA	C	A43093370T	BRCA1	NM_007294.4(BRCA1):c.2163del:p.Phe721fs	coding	Pathogenic
17	43093373	CT	C	T43093376A	BRCA1	NM_007294.4(BRCA1):c.2157del:p.Glu720fs	coding	Pathogenic
17	43093378	AGTTCACTG	A	T43093381A	BRCA1	NM_007294.4(BRCA1):c.2145_2152del:p.Thr715_Ser716insTer	coding	Pathogenic
17	43093390	TTTGAA	T	T43093391C	BRCA1	NM_007294.4(BRCA1):c.2136_2140del:p.Cys712_Asn714delinsTer	coding	Pathogenic
17	43093475	C	CA	T43093477A	BRCA1	NM_007294.4(BRCA1):c.2055dup:p.Glu686Ter	coding	Pathogenic
17	43093484	TG	T	G43093485T	BRCA1	NM_007294.4(BRCA1):c.2046del:p.Asn682fs	coding	Pathogenic
17	43093506	T	TG	C43093508G	BRCA1	NM_007294.4(BRCA1):c.2024dup:p.Thr676fs	coding	Pathogenic
17	43093508	CAGGTTCTTTACCTTCCATGAGTTGT	C	C43093514T	BRCA1	NM_007294.4(BRCA1):c.1998_2022del:p.Met669fs	coding	Pathogenic
17	43093514	C	CT	A43093518T	BRCA1	NM_007294.4(BRCA1):c.2016dup:p.Glu673fs	coding	Pathogenic
17	43093532	GTA	G	T43093533G	BRCA1	NM_007294.4(BRCA1):c.1997_1998del:p.Leu666fs	coding	Pathogenic
17	43093537	TTTCTGCTGTGCCTGACTGGCATTTGGTTGTACTTTTTTTTCTTTATCTCTTCACTGCTAGAACAACTATCAATTTGCAA	T	T43093541A	BRCA1	NM_007294.4(BRCA1):c.1915_1993del:p.Leu639fs	coding	Pathogenic
17	43093543	CT	C	T43093544G	BRCA1	NM_007294.4(BRCA1):c.1987del:p.Ser663fs	coding	Pathogenic
17	43093556	GC	G	C43093557A	BRCA1	NM_007294.4(BRCA1):c.1974del:p.Met658fs	coding	Pathogenic
17	43093568	AC	A	C43093569T	BRCA1	NM_007294.4(BRCA1):c.1962del:p.Lys654fs	coding	Pathogenic
17	43093596	AG	A	G43093597A	BRCA1	NM_007294.4(BRCA1):c.1934del:p.Ser645fs	coding	Pathogenic
17	43093628	TAGGTGGGCTTAGATTTCTACTGACTACTAGTTCA	T	G43093631C	BRCA1	NM_007294.4(BRCA1):c.1869_1902del:p.Glu624fs	coding	Pathogenic
17	43093657	AGTT	GAA	A43093657G	BRCA1	NM_007294.4(BRCA1):c.1871_1874delinsTTC:p.Glu624fs	coding	Pathogenic
17	43093669	TGAATATGCCTGGTA	T	T43093673G	BRCA1	NM_007294.4(BRCA1):c.1848_1861del:p.Thr617fs	coding	Pathogenic
17	43093697	T	TCAGCCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A43093713T	BRCA1	NM_007294.4(BRCA1):c.1833_1834insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAATAGGCTG:p.Arg612delinsAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
17	43093705	TTC	T	C43093707T	BRCA1	NM_007294.4(BRCA1):c.1824_1825del:p.Lys608_Asn609insTer	coding	Pathogenic
17	43093707	C	CT	A43093713T	BRCA1	NM_007294.4(BRCA1):c.1823dup:p.Asn609fs	coding	Pathogenic
17	43093723	G	GA	T43093726A	BRCA1	NM_007294.4(BRCA1):c.1807dup:p.Ser603fs	coding	Pathogenic
17	43093731	GATAT	G	A43093732T	BRCA1	NM_007294.4(BRCA1):c.1796_1799del:p.Asn599fs	coding	Pathogenic
17	43093739	AT	A	T43093741C	BRCA1	NM_007294.4(BRCA1):c.1791del:p.Glu597fs	coding	Pathogenic
17	43093770	TA	T	A43093771T	BRCA1	NM_007294.4(BRCA1):c.1760del:p.Ile587fs	coding	Pathogenic
17	43093771	ATA	TT	A43093771T	BRCA1	NM_007294.4(BRCA1):c.1758_1760delinsAA:p.Ile587fs	coding	Pathogenic
17	43093786	G	GT	G43093791T	BRCA1	NM_007294.4(BRCA1):c.1744dup:p.Thr582fs	coding	Pathogenic
17	43093790	T	TGAAAGCAGATTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG	C43093808T	BRCA1	NM_007294.4(BRCA1):c.1740_1741insCCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATCTGCTTTC:p.Lys581delinsProSerTrpLeuThrArgTer	coding	Pathogenic
17	43093799	ATTCT	A	C43093802T	BRCA1	NM_007294.4(BRCA1):c.1728_1731del:p.Lys576fs	coding	Pathogenic
17	43093802	CT	C	T43093807C	BRCA1	NM_007294.4(BRCA1):c.1728del:p.Glu577fs	coding	Pathogenic
17	43093821	TG	T	G43093824T	BRCA1	NM_007294.4(BRCA1):c.1709del:p.Pro570fs	coding	Pathogenic
17	43093824	GT	G	T43093826A	BRCA1	NM_007294.4(BRCA1):c.1706del:p.Asn569fs	coding	Pathogenic
17	43093829	G	GAT	T43093832A	BRCA1	NM_007294.4(BRCA1):c.1700_1701dup:p.Pro568fs	coding	Pathogenic
17	43093841	T	TCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTA	A43093888C	BRCA1	NM_007294.4(BRCA1):c.1644_1689dup:p.Asn564delinsTyrTer	coding	Pathogenic
17	43093848	AG	A	G43093849A	BRCA1	NM_007294.4(BRCA1):c.1682del:p.Ser561fs	coding	Pathogenic
17	43093853	CA	C	A43093854C	BRCA1	NM_007294.4(BRCA1):c.1677del:p.Asp560fs	coding	Pathogenic
17	43093924	GT	G	T43093926C	BRCA1	NM_007294.4(BRCA1):c.1606del:p.Thr536fs	coding	Pathogenic
17	43093926	TC	T	C43093929T	BRCA1	NM_007294.4(BRCA1):c.1604del:p.Gly535fs	coding	Pathogenic/Likely_pathogenic
17	43093932	AT	A	T43093935A	BRCA1	NM_007294.4(BRCA1):c.1598del:p.Asn533fs	coding	Pathogenic
17	43093944	AG	A	G43093946A	BRCA1	NM_007294.4(BRCA1):c.1586del:p.Pro529fs	coding	Pathogenic
17	43093951	TTTTG	CTT	T43093951C	BRCA1	NM_007294.4(BRCA1):c.1576_1580delinsAAG:p.Gln526fs	coding	Pathogenic
17	43093975	TTGATAAAATCCTCAGGATGAAGGCC	T	A43093980G	BRCA1	NM_007294.4(BRCA1):c.1531_1555del:p.Gly511fs	coding	Pathogenic
17	43093979	T	TA	T43093984A	BRCA1	NM_007294.4(BRCA1):c.1551dup:p.Ile518fs	coding	Pathogenic
17	43093996	AG	A	G43093998C	BRCA1	NM_007294.4(BRCA1):c.1534del:p.Leu512fs	coding	Pathogenic
17	43093998	GC	G	C43094000T	BRCA1	NM_007294.4(BRCA1):c.1532del:p.Gly511fs	coding	Pathogenic
17	43094022	CTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCT	C	T43094024A	BRCA1	NM_007294.4(BRCA1):c.1423_1508del:p.Ser475fs	coding	Pathogenic
17	43094054	TTA	T	A43094056C	BRCA1	NM_007294.4(BRCA1):c.1475_1476del:p.Ile492fs	coding	Pathogenic
17	43094069	TAACAA	T	A43094071T	BRCA1	NM_007294.4(BRCA1):c.1457_1461del:p.Phe486fs	coding	Pathogenic
17	43094089	AG	A	G43094090A	BRCA1	NM_007294.4(BRCA1):c.1441del:p.Asn480_Leu481insTer	coding	Pathogenic
17	43094091	AT	A	T43094095C	BRCA1	NM_007294.4(BRCA1):c.1439del:p.Asn480fs	coding	Pathogenic
17	43094119	AG	A	G43094121C	BRCA1	NM_007294.4(BRCA1):c.1411del:p.Leu471fs	coding	Pathogenic
17	43094135	GA	G	A43094136T	BRCA1	NM_007294.4(BRCA1):c.1395del:p.Arg466fs	coding	Pathogenic
17	43094152	AT	A	T43094156G	BRCA1	NM_007294.4(BRCA1):c.1378del:p.Ile460fs	coding	Pathogenic
17	43094170	CT	C	T43094171C	BRCA1	NM_007294.4(BRCA1):c.1360del:p.Ser454fs	coding	Pathogenic
17	43094180	AT	A	T43094183G	BRCA1	NM_007294.4(BRCA1):c.1350del:p.Lys450fs	coding	Pathogenic
17	43094200	CTTTTACATATT	C	T43094201A	BRCA1	NM_007294.4(BRCA1):c.1320_1330del:p.Leu440_Ile441insTer	coding	Pathogenic
17	43094208	TATTAAAGCCTC	T	T43094211G	BRCA1	NM_007294.4(BRCA1):c.1312_1322del:p.Glu438fs	coding	Pathogenic
17	43094219	CATGAGGATCACTGGCCAGTAAGTCTATTTTC	ACATAT	C43094219A	BRCA1	NM_007294.4(BRCA1):c.1281_1312delinsATATGT:p.Lys428fs	coding	Pathogenic
17	43094221	TGAGGATC	T	G43094222A	BRCA1	NM_007294.4(BRCA1):c.1303_1309del:p.Asp435fs	coding	Pathogenic
17	43094259	AC	A	C43094261A	BRCA1	NM_007294.4(BRCA1):c.1271del:p.Gly424fs	coding	Pathogenic
17	43094266	T	TA	T43094268A	BRCA1	NM_007294.4(BRCA1):c.1264dup:p.Tyr422fs	coding	Pathogenic
17	43094271	AT	A	T43094272C	BRCA1	NM_007294.4(BRCA1):c.1259del:p.Asp420fs	coding	Pathogenic
17	43094334	ATG	A	T43094337A	BRCA1	NM_007294.4(BRCA1):c.1195_1196del:p.Ser398_His399insTer	coding	Pathogenic
17	43094375	AC	A	C43094377A	BRCA1	NM_007294.4(BRCA1):c.1155del:p.Trp385fs	coding	Pathogenic
17	43094410	GT	G	T43094412A	BRCA1	NM_007294.4(BRCA1):c.1120del:p.Thr374fs	coding	Pathogenic
17	43094422	A	ACATCT	T43094428C	BRCA1	NM_007294.4(BRCA1):c.1104_1108dup:p.Val370fs	coding	Pathogenic
17	43094430	AG	A	G43094431T	BRCA1	NM_007294.4(BRCA1):c.1100del:p.Thr367fs	coding	Pathogenic
17	43094431	GT	G	T43094432A	BRCA1	NM_007294.4(BRCA1):c.1099del:p.Thr367fs	coding	Pathogenic
17	43094435	CT	C	T43094436C	BRCA1	NM_007294.4(BRCA1):c.1095del:p.Asp366fs	coding	Pathogenic/Likely_pathogenic
17	43094465	G	CCTTATTCCATC	G43094465C	BRCA1	NM_007294.4(BRCA1):c.1066delinsGATGGAATAAGG:p.Gln356fs	coding	Pathogenic
17	43094485	T	TCA	G43094492C	BRCA1	NM_007294.4(BRCA1):c.1044_1045dup:p.Glu349fs	coding	Pathogenic
17	43094521	T	TC	T43094523C	BRCA1	NM_007294.4(BRCA1):c.1009dup:p.Glu337fs	coding	Pathogenic
17	43094522	CT	C	T43094523G	BRCA1	NM_007294.4(BRCA1):c.1008del:p.Glu337fs	coding	Pathogenic
17	43094527	CT	C	T43094528G	BRCA1	NM_007294.4(BRCA1):c.1003del:p.Ser335fs	coding	Pathogenic
17	43094549	ATGTTTCCTTACTTCCAGCCCATC	A	T43094554A	BRCA1	NM_007294.4(BRCA1):c.959_981del:p.Arg320fs	coding	Pathogenic
17	43094554	TCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTACTCAAAAACTGAATTGTCATTAAAAAAATACATACTTCATACACCTTGGAGGTGGAAATCAACCAACTGGCTATATTAGAGAAACTAACCTCATAAACTACCAAGTATACTGAAGATGTAGCTCATACTCTTTCATTTAATTCCTATTTACCTAGATTATTTCCACTTAGGATCCATTAAATTTTTAATTTCAGAATTTTCCCTATGCAGAAACCACACCTATTTCTCTAACGTCTAAGAGTGAATTAAAAGCAGATTGGCCATCAGAAAACTGGTTCTGATGTACTCTAAAGATTACTGGCCATTAAGTCTACTTAATACTCTGTTCTATCTACAGACTTACCACTCCCTATATTTAAAAACCAGTAGGTAAAAGATGAAACACAAATACACCAATTAAAAGTAAAGGGCAGGCCAGGCACAGTGGCTCAAGCCTGTAACTGCAGCACTTTGGGAGGCTGAAGTGGGCAGACTGCTTGAGTCCAGGAGTTTGAGACCAGCCTCGGTAACATGGTGAAACCCCATCTCTATAAAACCACAAAAAATTAACCGGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATAGCTTGAGCCTTGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCATCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCATCTCAAAAAAAAACAAACAAACAAACAAAAAAAAAAACGAAAGGGCAACAATCAGTTACAGAAGGTCTTATTATAGGTACATTAGTCTAGTACCATTTAAATCTATCAGACCATACCACGACATTTGACAGAGAATGATACTCTAACTCTGCCAAGAGATTTTGTGGGTTGTAAAGGTCCCAAATGGTCTTCAGAATAATCTAATTACAGTACTGTATCTACCCACTCTCTTTTCAGTGCCTGTTAAGTTGGCAAACTTTGCCATTACCCTTTTTTGCAGAATCCAAACTGATTTCATCCCTGGTTCCTTGAGGGGTGATTTGTAACAATTCTTGATCTCCCACACTATAGGGAAAAGACAGAGTCCTAATAAGAAACACTAGTTACATGTATGCAGAACTGTCAAATGACCAAGATCAAACATTTTAGCTCTTTCGATTACAGAAAGCTGACCAATCTTATTTAGTTAGTGAAAGCTGCTCTCTCCTTTAGAAACTTCTAGTTGAAATGAAATGGTTGCTGGGCACGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGTGGACCACTTGAGGTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGTATGGCTTCAACCTGGGAGGCAGACGTTGCGGAGAGGTGAGATCACACCTCTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAGAGAAAGAAAGAAATGGAATGGTCAATTAACCGGGCGTGGTGGTGTATACCTGTAGTCCCAGCTACTCGTGAGATTGAGACAGGAGAATCGCTTGAACCAGGGAGTTGGAGATTGCAGTGAGCCGAGATGGCGCCACTACACTCCATCCTGGCAACAGGGCAAGACCCCGTCTCCAAAAAAAAAAAAAAAAAAACCTGGGTCAAGCAATAATTCCTAAGGAAGGTAGGTAACATAGTTGGGGTTGCTTGTAGTTTATTATATAACATACAGACAAAGCTTGAGAGATATGTGGAAATAAGGAACAGAGGAAAGAAAGAGTTGAAAATGAAGTCCTTGAACATTTTCATCAGTCACAATTACTGCTGTGTCAATATTACTGTATATGAGGAACTTAGAGAACAATCTGCTAGAAGCAAGCATGTGCAGAGTTCTACTGTTATCCTAAATTCCTTTGGACAGTGCTAATAACTAAATCCAACAAACAAAAAGGGTATTTCCTCCACTATAAAATGAGAGAACTAAACTAGATGATCTCTAAGGTTTCTTCCAATACCATGATTCTAGTCTGGAGAAACACCAGCCTACTTGAGGGAGGAAGGTGGGAAGAGGGAGAAATTCAGAAAGAAAGCAAACAAAAAACTGTGGGGTATGCTTAGTACCCGGATGATGAAAAAAATCTATACACCAAATCCCAAGTCGTGTGTTTACCTATATAACAAACTGCACATACATCCCTGAACCTAAAATAAAAGTTAAAATATTTTTAAAAAGAGAGAAACATCAATCCTTAATATTAACTAAATAGGAAAATACCAGCTTCATAGACAAAGGTTCTCTTTGACTCACCTGCAATAAGTTGCCTTATTAACGGTATCTTCAGAAGAATCAGATCCTAAAAAATTTCCCCCCAAAAAATAAATCAATAAAAGTTTTCTTAATTAAAAGGGTTAAAAAAATGTACTTGTTGAAAAACAGATATTCAACTAGAAATATTTACTGAGCATCTACTGTGGCAGGTACAATGCTAGTTAAGCTAGTATGTAATACAGAGAAGTGGTTAAAGGCATGGGCTTCGCCAGGCACAGTGGCTCTCACCTGTAATCCCAGCACTTGAGGAGGCCGAGATGGGTGGATTATTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACAAAGTGAGACCCCCGTTTCTACTGAAAACAAAAACAAAAACAAAAAAAAAGCACAGGCTCTGACATCTAACTTCCTAGGTTTGAATCATGGCTCAGCCACTTACTAGGTTTAATACCTTGGAAAAATTTCATAACTTCTCTGTGCCTTAATTTTCTCATCTGTAAAATAAGTATAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTCACCTCTGCCTCCTGAGTAGCTGGGACTACAGATGCACACCACCACACCCAGCTAATTTAAAAAAGAAATTTTTTTGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCTTCAAGCAATCCTCTGCCACTGCTGAGATTACAGATGTGAGCTACTATGCTGGCCTCAACTTTTCTTTTTATAAGCTTAAAAAAATTTATTATTTTTAAAAATTATTATTTTTTTGAGATGCAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGTGTAGTGTTGGCTCATTGTAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGTGCTACCACACCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATAAGCCACCACCCCGGCTAATTTTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCAATTCAGCTCTTCTTAAAAGGCTTCCTCATCTAGTACAATTTATCTTGGAACTAAATACTGTAGCAATCCATCATGTTTTTTCTTATTGCTACTCTCCATCTTTCCAAAACATATTTACACATATTTAAAACCAGATATTCTTTCTTTTGCTCTCTTTTTTTTTTTTAGATGGAGTTTCGCTATTTTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGTTCACCGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGTTATGTGCCACCACACCTGGCTAATTTTTTATTTTTTGGTACAGACAGAGTTTCTCCATGTTGGCTAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTCTTTTGCTCCCTTTTTAAAGTAAGATTCTTCAAGGTGGGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGTTCTGTGCTTTTCCTCCTGAAGAGAAACTTGACACCATGGACAAAATAAATTGACCATCATCAGTCAGCTAACATGTATGATGCCTGGAAAAAATGCCCAGGAATTTACACACTAAAATGTCTGGGGCTGGGAGCGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGGAGCAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCATAAGCAACAGAGTGAGACCCAGTCTCTACAAAATAATAGTAGTAGTAATAATAAAATGTGTGGGATATGTGTGATTTGAATTTTTTTTTCTGTTGTCTTAAATTTTTCAAACCTGATTATGTATTATTTGTGTAATTTTTGAAGTATTAATATAGCATATTTTGAAGCTGATACTTGATATACATTCCAATCACATCTGATAACTTTTTTTTTTGTTTTGGGGGGTGTACAGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTAAGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGTCTACAAGCGTGTGCAACTATGCCTGGCTAATTTGTGTGTGTGTGTGTATATATATATACATATATATGTGTGTGTGTGTGTATATATATATATAACATATATATAACATATATATATTATATATATATAACATATATATAACATATATATATGTTATATATATATAACATATATATAACATATATATATATATATATATAATATATATATATATATATATATATGTAATCCCAGCACTTTGGGATATATGTGTATATATGTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCACACTGCAACCTCCACCTCCCTGGTTCAGTTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTACACCACCACGCCTAGTTAATTTTTGTATTTTTAGTAGAGACAGGTTTCGCCATGTTGGCCAGGCTGGTCTCACACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCGTGCCTGGCCAATAACATTTTTAAAAAGGATAAATGATGACAATAAAACCCCAGCACTCCTAAGAACATTTAGTATAGGAACGAGTATTTAAAAG	T	T43094557C	BRCA1	NM_007294.4(BRCA1):c.442-1235_976del	coding	Pathogenic
17	43094562	TC	T	C43094564A	BRCA1	NM_007294.4(BRCA1):c.968del:p.Gly323fs	coding	Pathogenic
17	43094576	T	TA	T43094578A	BRCA1	NM_007294.4(BRCA1):c.954dup:p.Asn319Ter	coding	Pathogenic
17	43094608	CT	C	T43094612A	BRCA1	NM_007294.4(BRCA1):c.922del:p.Ser308fs	coding	Pathogenic
17	43094615	T	TA	C43094617A	BRCA1	NM_007294.4(BRCA1):c.915dup:p.Asn306Ter	coding	Pathogenic
17	43094635	ACATTC	A	C43094636A	BRCA1	NM_007294.4(BRCA1):c.891_895del:p.Met297fs	coding	Pathogenic
17	43094679	CT	C	T43094680G	BRCA1	NM_007294.4(BRCA1):c.851del:p.Gln284fs	coding	Pathogenic
17	43094680	TG	T	G43094681T	BRCA1	NM_007294.4(BRCA1):c.850del:p.Gln284fs	coding	Pathogenic
17	43094697	A	AGTATTTGTGC	C43094708G	BRCA1	NM_007294.4(BRCA1):c.824_833dup:p.Ala280fs	coding	Pathogenic
17	43094739	AC	A	C43094740T	BRCA1	NM_007294.4(BRCA1):c.791del:p.Ser264fs	coding	Pathogenic
17	43094825	T	TG	A43094826G	BRCA1	NM_007294.4(BRCA1):c.705_706insC:p.Thr236fs	coding	Pathogenic
17	43094830	GT	G	T43094832A	BRCA1	NM_007294.4(BRCA1):c.700del:p.Thr234fs	coding	Pathogenic
17	43094836	TC	T	C43094838G	BRCA1	NM_007294.4(BRCA1):c.694del:p.Asp232fs	coding	Pathogenic
17	43094858	CA	C	A43094859G	BRCA1	NM_007294.4(BRCA1):c.672del:p.Ala225fs	coding	Pathogenic
17	43094861	CTGAAAAT	C	T43094862A	BRCA1	NM_007294.4(BRCA1):c.671-8_671-2del	coding	Pathogenic
17	43094872	C	CA	T43094878A	BRCA1	NM_007294.4(BRCA1):c.671-13dup	noncoding	Benign
17	43097300	TC	T	C43097306A	BRCA1	NM_007294.4(BRCA1):c.548-12del	noncoding	Benign
17	43099609	GGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGT	A	G43099609A	BRCA1	NM_007294.4(BRCA1):c.536_547+166delinsT	noncoding	Pathogenic/Likely_pathogenic
17	43099772	TACCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGC	T	A43099773T	BRCA1	NM_007294.4(BRCA1):c.442-1_547+2del	noncoding	Pathogenic
17	43099778	AT	A	T43099780C	BRCA1	NM_007294.4(BRCA1):c.543del:p.Glu181fs	coding	Pathogenic
17	43099828	A	AGAGTTCTCACAGTTCCAAGG	T43099849G	BRCA1	NM_007294.4(BRCA1):c.474_493dup:p.Leu165delinsProLeuGluLeuTer	coding	Pathogenic
17	43104072	AAAAAAAAAGAAAAGAAGAAGAAGAAGAAGAAGAAAACAAATGGT	A	A43104073T	BRCA1	NM_007294.4(BRCA1):c.441+6_441+49del	noncoding	Benign
17	43104118	TTACCAAGGAAGGATTTTCGGGTTCACTCTGTAGAAGTCTTTTGGCACGGTTTCTGTAGCCCATACTTTGGATGATAGAAACTTCATCTTTTAGATGTTCAGGAGAGTTATTTTCCTTTTTTGCAAAATTATAGCTGTTTGCATCTGTAAAATACAAGGGAAAACATTATGTTTGCAGTTAGAGAAAAATGTATGAATTATAATCAAAGAAACCAAGAGAAACCCTATGTATGCTCTTTGTTGTGTTAAGACAATGCATTAAGGTTACCTGTGATTTTTTTTAAAAATCAAATTTTAAAAAATCAACTGGA	T	T43104119A	BRCA1	NM_007294.4(BRCA1):c.302-167_441+3del	noncoding	Pathogenic
17	43104213	T	TG	T43104215G	BRCA1	NM_007294.4(BRCA1):c.349dup:p.His117fs	coding	Pathogenic
17	43104260	AT	TC	A43104260T	BRCA1	NM_007294.4(BRCA1):c.302_303delinsGA:p.Tyr101Ter	coding	Pathogenic
17	43104847	C	CT	G43104850T	BRCA1	NM_007294.4(BRCA1):c.301+20dup	noncoding	Benign
17	43104868	ACTCC	A	C43104869A	BRCA1	NM_007294.4(BRCA1):c.297_300del:p.Leu99fs	coding	Pathogenic
17	43104876	C	CA	C43104877A	BRCA1	NM_007294.4(BRCA1):c.292_293insT:p.Gly98fs	coding	Pathogenic
17	43104889	GA	G	A43104893G	BRCA1	NM_007294.4(BRCA1):c.279del:p.Gln94fs	coding	Pathogenic
17	43104895	CA	C	A43104896C	BRCA1	NM_007294.4(BRCA1):c.273del:p.Cys91fs	coding	Pathogenic
17	43104911	T	TAGCTCTTC	A43104921G	BRCA1	NM_007294.4(BRCA1):c.250_257dup:p.Leu87fs	coding	Pathogenic
17	43106464	TATATCATT	ATATACCTTATGTC	T43106464A	BRCA1	NM_007294.4(BRCA1):c.196_204delinsGACATAAGGTATAT:p.Asn66fs	coding	Pathogenic
17	43106479	T	TAA	G43106483A	BRCA1	NM_007294.4(BRCA1):c.187_188dup:p.Leu63fs	coding	Pathogenic
17	43106498	CCTTT	C	T43106502C	BRCA1	NM_007294.4(BRCA1):c.166_169del:p.Lys56fs	coding	Pathogenic
17	43106531	A	ATCTATAAATT	A43106532T	BRCA1	NM_007294.4(BRCA1):c.136_137insAATTTATAGA:p.Phe46Ter	coding	Pathogenic
17	43106544	TAAAG	T	A43106555C	BRCA1	NM_007294.4(BRCA1):c.135-23CTTT[2]	noncoding	Benign/Likely_benign
17	43114719	TTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAG	ATCAAGGA	T43114719A	BRCA1	NM_007294.4(BRCA1):c.105_134+1007delinsTCCTTGAT	noncoding	Pathogenic
17	43115501	C	CA	G43115517A	BRCA1	NM_007294.4(BRCA1):c.134+224dup	noncoding	Benign
17	43115723	TACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGAC	T	A43115724T	BRCA1	NM_007294.4(BRCA1):c.81-1_134+2del	noncoding	Pathogenic
17	43115724	ACTT	A	C43115725G	BRCA1	NM_007294.4(BRCA1):c.133_134+1del	noncoding	Pathogenic
17	43115734	T	TA	T43115736A	BRCA1	NM_007294.4(BRCA1):c.125dup:p.Phe43fs	coding	Pathogenic
17	43115780	CTAGC	TCAAGGT	C43115780T	BRCA1	NM_007294.4(BRCA1):c.81-5_81-1delinsACCTTGA	coding	Pathogenic
17	43115790	A	AG	A43115798G	BRCA1	NM_007294.4(BRCA1):c.81-12dup	noncoding	Benign/Likely_benign
17	43119276	GA	G	A43119288G	BRCA1	NM_007294.4(BRCA1):c.81-3498del	noncoding	Benign
17	43119403	TG	T	G43119404A	BRCA1	NM_007294.4(BRCA1):c.81-3625del	noncoding	Benign/Likely_benign
17	43124012	CTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCA	C	A43124015T	BRCA1	NM_007294.4(BRCA1):c.2_80+4del	noncoding	Pathogenic
17	43124029	TC	T	C43124030T	BRCA1	NM_007294.4(BRCA1):c.67del:p.Glu23fs	coding	Pathogenic
17	43124030	CT	AA	C43124030A	BRCA1	NM_007294.4(BRCA1):c.66_67delinsTT:p.Leu22_Glu23delinsPheTer	coding	Pathogenic
17	43124135	C	CAT	C43124148A	BRCA1	NM_007294.4(BRCA1):c.-19-32AT[7]	noncoding	Benign/Likely_benign
17	43530602	ACG	A	C43530609T	ETV4	NM_001079675.5(ETV4):c.812-429CG[3]	noncoding	Benign
17	43536117	AAAAC	A	A43536140C	ETV4	NM_001079675.5(ETV4):c.256+285GTTT[5]	noncoding	Benign
17	43545194	C	CGT	G43545236T	ETV4	NM_001079675.5(ETV4):c.154+40AC[21]	noncoding	Benign
17	43545194	C	CGTGT	G43545236T	ETV4	NM_001079675.5(ETV4):c.154+40AC[22]	noncoding	Benign
17	43545194	C	CGTGTGT	G43545236T	ETV4	NM_001079675.5(ETV4):c.154+40AC[23]	noncoding	Benign
17	43545194	C	CGTGTGTGT	G43545236T	ETV4	NM_001079675.5(ETV4):c.154+40AC[24]	noncoding	Benign
17	43545194	CGT	C	T43545234G	ETV4	NM_001079675.5(ETV4):c.154+40AC[19]	noncoding	Benign
17	43545934	C	CGT	A43545981G	ETV4	NM_001079675.5(ETV4):c.-52+205AC[24]	noncoding	Benign
17	43545934	C	CGTGT	A43545981G	ETV4	NM_001079675.5(ETV4):c.-52+205AC[25]	noncoding	Benign
17	43545934	CGT	C	G43545979A	ETV4	NM_001079675.5(ETV4):c.-52+205AC[22]	noncoding	Benign
17	43545934	CGTGT	C	G43545977A	ETV4	NM_001079675.5(ETV4):c.-52+205AC[21]	noncoding	Benign
17	43758654	T	TG	A43758656G	SOST	NM_025237.3(SOST):c.87dup:p.Lys30fs	coding	Pathogenic
17	44001507	TCTC	T	T44001512A	PYY	NM_004160.6(PYY):c.-463+2881_-463+2883del	noncoding	Benign
17	44001768	A	AG	T44001769G	PYY	NM_004160.6(PYY):c.-463+2622_-463+2623insC	noncoding	Benign
17	44004708	AG	A	G44004709C	NAGS	NM_153006.3(NAGS):c.46del:p.Ala16fs	coding	Pathogenic
17	44004728	GGGGAGGCACT	G	A44004732G	NAGS	NM_153006.3(NAGS):c.69_78del:p.Gly24fs	coding	Pathogenic
17	44004763	GGC	G	C44004769G	NAGS	NM_153006.3(NAGS):c.106_107del:p.Arg36fs	coding	Pathogenic
17	44004767	CGCGGCGGCGG	C	G44004774A	NAGS	NM_153006.3(NAGS):c.111_120del:p.Arg38fs	coding	Pathogenic
17	44004797	CG	C	G44004801C	NAGS	NM_153006.3(NAGS):c.138del:p.Arg47fs	coding	Pathogenic
17	44006213	CG	C	G44006215C	NAGS	NM_153006.3(NAGS):c.893del:p.Gly298fs	coding	Pathogenic
17	44006958	GC	G	C44006964G	NAGS	NM_153006.3(NAGS):c.1096+255del	noncoding	Benign
17	44007629	T	TG	C44007636G	NAGS	NM_153006.3(NAGS):c.1313dup:p.Thr439fs	coding	Pathogenic
17	44008304	AATGAG	A	G44008307A	NAGS	NM_153006.3(NAGS):c.1452-141_1452-137del	noncoding	Benign
17	44070470	G	GT	G44070490T	G6PC3	Single_allele	noncoding	Benign
17	44073939	G	GA	G44073950A	G6PC3	NM_138387.4(G6PC3):c.219-211dup	noncoding	Benign
17	44075408	CT	C	T44075409C	G6PC3	NM_138387.4(G6PC3):c.635del:p.Leu212fs	coding	Pathogenic
17	44075766	CAG	C	A44075767G	G6PC3	NM_138387.4(G6PC3):c.765_766del:p.Ala257fs	coding	Pathogenic
17	44092813	TG	T	G44092823T	HDAC5	NM_005474.5(HDAC5):c.642-8del	noncoding	Benign
17	44207100	AT	A	T44207115A	UBTF	NM_014233.4(UBTF):c.*141del	noncoding	Benign
17	44208092	AT	A	T44208120G	UBTF	NM_014233.4(UBTF):c.1906-182del	noncoding	Benign
17	44208092	ATTTTTTTTTT	A	T44208111G	UBTF	NM_014233.4(UBTF):c.1906-191_1906-182del	noncoding	Benign
17	44208092	ATTTTTTTTTTT	A	T44208110G	UBTF	NM_014233.4(UBTF):c.1906-192_1906-182del	noncoding	Benign
17	44251730	T	TG	T44251731G	SLC4A1	NM_000342.4(SLC4A1):c.2312-143_2312-142insC	noncoding	Benign
17	44257365	G	GA	G44257369A	SLC4A1	NM_000342.4(SLC4A1):c.1610dup:p.Ser538fs	coding	Pathogenic
17	44258000	A	AC	A44258001C	SLC4A1	NM_000342.4(SLC4A1):c.1267_1268insG:p.Phe423fs	coding	Pathogenic
17	44258042	ACGGCAGCCAGGACCTGGGGGCTGAATG	A	G44258044A	SLC4A1	NM_000342.4(SLC4A1):c.1199_1225del:p.Ala400_Ala408del	coding	Pathogenic/Likely_pathogenic
17	44258440	G	GC	T44258442C	SLC4A1	NM_000342.4(SLC4A1):c.1059dup:p.Pro354fs	coding	Pathogenic
17	44259335	TCGGCG	T	G44259340C	SLC4A1	NM_000342.4(SLC4A1):c.699_703del:p.Ala234fs	coding	Pathogenic
17	44259681	A	AC	G44259688C	SLC4A1	NM_000342.4(SLC4A1):c.610-106dup	noncoding	Benign
17	44261750	G	GC	T44261754C	SLC4A1	NM_000342.4(SLC4A1):c.107-117dup	noncoding	Benign
17	44345383	C	CG	C44345385G	GRN	NM_002087.4(GRN):c.-8+50dup	noncoding	Benign
17	44349187	TG	T	G44349189C	GRN	NM_002087.4(GRN):c.25del:p.Ala9fs	coding	Pathogenic
17	44349200	A	AG	C44349204G	GRN	NM_002087.4(GRN):c.39dup:p.Leu14fs	coding	Pathogenic
17	44349439	CA	C	A44349441C	GRN	NM_002087.4(GRN):c.154del:p.Thr52fs	coding	Pathogenic
17	44349528	TC	T	C44349530A	GRN	NM_002087.4(GRN):c.243del:p.Ser82fs	coding	Pathogenic
17	44349698	GC	G	C44349701A	GRN	NM_002087.4(GRN):c.299del:p.Pro100fs	coding	Pathogenic
17	44350430	A	AT	C44350437T	GRN	NM_002087.4(GRN):c.463-6dup	noncoding	Benign
17	44350800	CGTGA	C	T44350806G	GRN	NM_002087.4(GRN):c.708+6_708+9del	coding	Pathogenic/Likely_pathogenic
17	44351099	GAGTA	G	A44351103G	GRN	NM_002087.4(GRN):c.775_778del:p.Lys259fs	coding	Pathogenic
17	44351580	TGTCCCGCGGG	T	C44351583T	GRN	NM_002087.4(GRN):c.967_976del:p.Pro323fs	coding	Pathogenic
17	44351611	AG	A	G44351614T	GRN	NM_002087.4(GRN):c.998del:p.Gly333fs	coding	Pathogenic
17	44351760	AC	A	C44351761G	GRN	NM_002087.4(GRN):c.1145del:p.Thr382fs	coding	Pathogenic
17	44351765	TG	T	G44351769A	GRN	NM_002087.4(GRN):c.1153del:p.Glu385fs	coding	Pathogenic
17	44352046	GC	G	C44352051A	GRN	NM_002087.4(GRN):c.1216del:p.Gln406fs	coding	Pathogenic
17	44352342	CTG	C	T44352347C	GRN	NM_002087.4(GRN):c.1420_1421del:p.Cys474fs	coding	Pathogenic
17	44352422	GT	G	T44352423G	GRN	NM_002087.4(GRN):c.1496del:p.Val499fs	coding	Pathogenic
17	44374699	TA	T	A44374700G	ITGA2B	NM_000419.5(ITGA2B):c.2902del:p.Tyr968fs	coding	Pathogenic
17	44375081	GCACCACAGTA	G	C44375084G	ITGA2B	NM_000419.5(ITGA2B):c.2748_2757del:p.Thr917fs	coding	Pathogenic
17	44375643	A	ATC	G44375647C	ITGA2B	NM_000419.5(ITGA2B):c.2673_2674dup:p.Ile892fs	coding	Pathogenic
17	44375680	TG	T	G44375685A	ITGA2B	NM_000419.5(ITGA2B):c.2637del:p.Ile880fs	coding	Pathogenic
17	44375953	ACCATTCAC	GACCAGGTGA	A44375953G	ITGA2B	NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC:p.Val825fs	coding	Pathogenic
17	44375974	AT	A	T44375976G	ITGA2B	NM_000419.5(ITGA2B):c.2459del:p.Asn820fs	coding	Pathogenic
17	44376087	CAT	C	T44376089G	ITGA2B	NM_000419.5(ITGA2B):c.2444_2445del:p.Thr814_Tyr815insTer	coding	Pathogenic
17	44376317	TC	T	C44376319A	ITGA2B	NM_000419.5(ITGA2B):c.2338del:p.Glu780fs	coding	Pathogenic
17	44377198	C	CT	C44377212T	ITGA2B	NM_000419.5(ITGA2B):c.2188-123dup	noncoding	Benign
17	44377654	TGAGCCCCTG	T	A44377656T	ITGA2B	NM_000419.5(ITGA2B):c.2187+35_2187+43del	noncoding	Benign
17	44377710	CT	C	T44377712C	ITGA2B	NM_000419.5(ITGA2B):c.2174del:p.Lys725fs	coding	Pathogenic
17	44377715	TG	T	G44377719T	ITGA2B	NM_000419.5(ITGA2B):c.2169del:p.Pro723_Met724insTer	coding	Pathogenic
17	44378038	TAAC	T	A44378043T	ITGA2B	NM_000419.5(ITGA2B):c.2095-251_2095-249del	noncoding	Benign
17	44378440	GC	G	C44378443T	ITGA2B	NM_000419.5(ITGA2B):c.2015del:p.Gly672fs	coding	Pathogenic
17	44378668	GCA	G	C44378673T	ITGA2B	NM_000419.5(ITGA2B):c.1919_1920del:p.Val640fs	coding	Pathogenic
17	44378675	T	TA	C44378677A	ITGA2B	NM_000419.5(ITGA2B):c.1913dup:p.Cys639fs	coding	Pathogenic
17	44380135	TG	T	G44380136C	ITGA2B	NM_000419.5(ITGA2B):c.1618del:p.Gln540fs	coding	Pathogenic
17	44380145	CA	C	A44380146T	ITGA2B	NM_000419.5(ITGA2B):c.1608del:p.Asn536fs	coding	Pathogenic
17	44380469	G	GACCT	G44380470A	ITGA2B	NM_000419.5(ITGA2B):c.1460_1461insAGGT:p.Ser488fs	coding	Pathogenic
17	44381018	GC	G	C44381022G	ITGA2B	NM_000419.5(ITGA2B):c.1253del:p.Gly418fs	coding	Pathogenic
17	44381039	G	GT	A44381041T	ITGA2B	NM_000419.5(ITGA2B):c.1232dup:p.Tyr411Ter	coding	Pathogenic
17	44381334	A	AT	G44381348T	ITGA2B	NM_000419.5(ITGA2B):c.1211-286dup	noncoding	Benign
17	44384112	C	CT	G44384114T	ITGA2B	NM_000419.5(ITGA2B):c.917dup:p.Arg307fs	coding	Pathogenic
17	44384208	GGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGT	TGTGGGATTGCACTGTGGGTGGC	G44384208T	ITGA2B	NM_000419.5(ITGA2B):c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA	noncoding	Pathogenic
17	44385019	AG	A	G44385021A	ITGA2B	NM_000419.5(ITGA2B):c.727del:p.Leu243fs	coding	Pathogenic
17	44385053	C	CA	C44385056A	ITGA2B	NM_000419.5(ITGA2B):c.693dup:p.Ala232fs	coding	Pathogenic
17	44385641	AG	A	G44385642C	ITGA2B	NM_000419.5(ITGA2B):c.483del:p.Leu163fs	coding	Pathogenic
17	44386074	G	GC	G44386078C	ITGA2B	NM_000419.5(ITGA2B):c.245dup:p.Gly83fs	coding	Pathogenic
17	44389451	AGT	A	T44389453G	ITGA2B	NM_000419.5(ITGA2B):c.21_22del:p.Leu8fs	coding	Pathogenic
17	44558054	A	AGCCCTCATGAACAAGTTCGGTT	T44558077G	FZD2	NM_001466.4(FZD2):c.367_388dup:p.Phe130fs	coding	Pathogenic
17	44804300	T	TA	G44804313A	GJC1	NM_005497.4(GJC1):c.*326dup	noncoding	Benign
17	44852563	CT	C	T44852564G	EFTUD2	NM_004247.4(EFTUD2):c.2562-2del	coding	Pathogenic
17	44854416	GGGA	G	G44854418A	EFTUD2	NM_004247.4(EFTUD2):c.2260-63_2260-61del	noncoding	Benign
17	44859118	G	GCATC	A44859123C	EFTUD2	NM_004247.4(EFTUD2):c.1920_1923dup:p.His642fs	coding	Pathogenic
17	44859641	G	GCA	A44859662C	EFTUD2	NM_004247.4(EFTUD2):c.1860+244TG[11]	noncoding	Benign
17	44859641	G	GCACACA	A44859662C	EFTUD2	NM_004247.4(EFTUD2):c.1860+244TG[13]	noncoding	Benign
17	44859641	G	GCACACACA	A44859662C	EFTUD2	NM_004247.4(EFTUD2):c.1860+244TG[14]	noncoding	Benign
17	44862453	TA	T	A44862463G	EFTUD2	NM_004247.4(EFTUD2):c.1607+259del	noncoding	Benign
17	44863102	TCTC	T	C44863106T	EFTUD2	NM_004247.4(EFTUD2):c.1414-199_1414-197del	noncoding	Benign
17	44863665	C	CA	G44863667A	EFTUD2	NM_004247.4(EFTUD2):c.1402dup:p.Cys468fs	coding	Pathogenic
17	44863736	GC	G	C44863739A	EFTUD2	NM_004247.4(EFTUD2):c.1331del:p.Gly444fs	coding	Pathogenic
17	44868173	T	TA	G44868190A	EFTUD2	NM_004247.4(EFTUD2):c.1058+98dup	noncoding	Benign
17	44879554	AC	A	C44879559T	EFTUD2	NM_004247.4(EFTUD2):c.702+1del	noncoding	Pathogenic
17	44881429	TCTC	T	C44881432A	EFTUD2	NM_004247.4(EFTUD2):c.528+255_528+257del	noncoding	Benign
17	44883651	TG	T	G44883652C	EFTUD2	NM_004247.4(EFTUD2):c.423del:p.Lys142fs	coding	Pathogenic
17	44883696	CT	C	T44883697G	EFTUD2	NM_004247.4(EFTUD2):c.378del:p.Glu127fs	coding	Pathogenic
17	44885341	GA	G	A44885351G	EFTUD2	NM_004247.4(EFTUD2):c.272-8del	noncoding	Benign
17	44886697	AG	A	G44886700T	EFTUD2	NM_004247.4(EFTUD2):c.158del:p.Pro53fs	coding	Pathogenic
17	44902645	CAGAG	C	A44902654C	CCDC103	NM_213607.3(CCDC103):c.566_569del:p.Glu189fs	coding	Pathogenic
17	44908334	C	CCCAAGTCCTGGCTGCTCTGTCCAGT	A44908336C	GFAP	NM_002055.5(GFAP):c.1172-186_1172-185insGACTGGACAGAGCAGCCAGGACTTG	noncoding	Benign
17	44910155	GT	AC	G44910155A	GFAP	NM_002055.5(GFAP):c.1171+459_1171+460inv	coding	Benign
17	44910278	T	TA	C44910286A	GFAP	NM_002055.5(GFAP):c.1171+336dup	coding	Benign
17	44911194	GGCA	G	C44911199G	GFAP	NM_002055.5(GFAP):c.1127+39_1127+41del	noncoding	Benign
17	44914373	A	ACC	A44914375C	GFAP	NM_002055.5(GFAP):c.462-286_462-285insGG	noncoding	Benign
17	44914826	CG	C	G44914829C	GFAP	NM_002055.5(GFAP):c.461+199del	noncoding	Benign
17	45286926	C	CG	C45286929G	MAP3K14	NM_003954.5(MAP3K14):c.656dup:p.Ala220fs	coding	Benign
17	45445409	TTGTG	T	T45445412C	PLEKHM1	NM_014798.3(PLEKHM1):c.2837+57_2837+60del	noncoding	Benign
17	45971569	C	CACCA	C45971570A	MAPT	NM_001377265.1(MAPT):c.134-290_134-289insACCA	noncoding	Benign
17	45971571	TC	T	C45971572A	MAPT	NM_001377265.1(MAPT):c.134-287del	noncoding	Benign
17	45971573	AGGTG	A	G45971575C	MAPT	NM_001377265.1(MAPT):c.134-284_134-281del	noncoding	Benign
17	45984242	GT	G	T45984245G	MAPT	NM_001377265.1(MAPT):c.1351+315del	noncoding	Benign
17	46010370	GATA	G	A46010374T	MAPT	NM_001377265.1(MAPT):c.2060ATA[1]:p.Asn688del	coding	Pathogenic
17	46018358	T	TA	G46018362A	MAPT	NM_001377265.1(MAPT):c.2174-257dup	noncoding	Benign
17	46033085	G	GC	G46033090C	KANSL1	NM_015443.4(KANSL1):c.2831dup:p.Ser945fs	coding	Pathogenic
17	46033095	TG	T	G46033099T	KANSL1	NM_015443.4(KANSL1):c.2821del:p.Gln941fs	coding	Pathogenic
17	46039799	CT	C	T46039804G	KANSL1	NM_015443.4(KANSL1):c.2105del:p.Lys702fs	coding	Pathogenic
17	46050657	GGAGGGATTCACATCACAGCCAGGGCGGATTGTGCTGTTCCGGTGAACCTGTGAAAAAAGCCAAACAAAACTGACAATTCAGCATCTGATAAAAAGCCAGCTACCCATTTGTTATCCCCATTTGTTATTGAGAAGTTAGCTCCCCATTTGTTATTGCGAAGACCTTTCTAGATACTTGTGTGACACTACTAAAAGGATGTTTGATTAGTTTGTTAAAAGATTTCCATTTGTCTAACACACTGACCTTCAAAGTGGGTAAGGAAACTTGCTTCCTTTTCATTGATGAAATCTAACTACTTGAAGCTCTAAGTGCTTACCTAGGTATCAAACTTCTGACAGTTTAAAAAGATACTAAAACTGTGCTTTCTGAGAACACTTTATAAACTCTGCATGCTTTCACGACCTTGATGGTCCGCTAAGACGAACAGTTGGTTCTTGATTCCCAGGTGGGACATTACTTGCTTTCTTCAGCAAATTTATCCACCTAGGAGCCTTCAATTACCAACCACACCTCTTCTCTTCTTTTCACACCTCTTCTTCAAAAGACTTTCAGGTGGTCTCAAGCCAGGTGGCAAGCTTCCCTGAAGCTTGTAACTTAAAAGTAACTTATTAACTACTCTTTAACCTGGCCTAAAATCCACTGTTACAAAGCTCATACCTAAGTAATAAAATAACATTTTGTACAGCAAATGCTCACTTTCATAGTCTTCATGTTAGATTAATTCCAAAGGGTAGAAATTATTTCCACTGAACTTCCTTTGTGCACATGTGGGCAGAATAATTGATAACCTCTCCAGGTAAGTCCAAAGTTAAATATGAACTAATTTAAGTCTTCAAAAGATTGAATTCTGTATAAAAACTGAACATCTACAATTTTATACTTTGAGCAAATTTCAGGTCATGCTGAATGCAGGATCCCTACATTCTAGTGTTAGGATGAACAAGTCTGGCATTTGCCAAAGCCTAACTCATAAAGTCACCTGGACACACAGCCCCAGAAAAAGAAACTTGCATGTTGAATGGCACTATAAGAAGGCATCCTAGGTGCAAGCTCAGTAGTAGAACAAAGACAAAAAGCATCAAAACTCTACTAGCAAAAACTCTAACATTTACTAGAGCTCCATTTATTTTCAGCAGAGACATCTCGAAAGCCTTTTATGGATTTGTGTAAGAGAAAGATATACATAAGAACAATGTGGTCTTTATCAACATTCCCCCGACATTCTATTGTAACCACATAGAGAGGTGGCACGCAAATAAAGTCTTTTAAAGGTTAGACTGGGCAAATCACACAGAACTAGAAGCCACTGAAAGGGAGTGATACCAACTAGGCATGCTACTTTTGTGTAGACAATATTAACTGGTATTGTTTTGGGAAAAAAAAAATCCCTGTATCTATGTAATCAGAGCTGGCTTTCTGGAGAGGATGACATTTTGAGGTAAAGAGAAATGAGTAGGTAGAGATGAAAATGAGATCACACAGTGGGTGAGTGGGAGGATTTAGGAAAATTGGTTAGGATCCAAAAATTACACTGAAACTTTCAATATTCAAAAGAGATTATCTCACTCCAGTAGGTATAGCAAATAAAAAATAAAAAGAGAGAGACTAGAAACCAACCCATGACATCAACTAGCTCTCCATATGGGACATTTAACAACACTACATTTTATGGCTAGAGTGTATCACTTAAGTCAAAGTCAATATTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACCCCGACTCTACTGAAAATAGAAACGTCAGCTGGGTGTGGTGGTGGGAGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAATGAGACTAAGTCCAAAGACAAGCAAACAAACAAAAAAACAAAACAACAACAATAAAAAAATTCAATAGATGTGGCTAGGCGTGGTGGCTCACAACTGTAATCCCAAAACTTTGAGGTGGGAGAGAGGATTGCTTGAAGCCAGGAGTCTGAGACTAGCCTGGGCAACACAGTAAGACTCCATCTCTTAAAATAAAATTTAAAATTAAAAAAAAAAAAAAAAAAAATTTAGCCCAGCATGGTATTGCATGCCTTTAGTCCCAGCTACTCAGGAGGCTGAGGGAGAAGAATCGCTTAAGCCCAGGAGTTCAGGTTATAGTGAGCCATGATTGCACCACTGCACTGCAGCCTGGGAAAAAGAGTAAGATCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTGCGCATGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGTGGATAACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAACTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTGGAGAGGCTGGTAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGGAACAAGAGCAAAACTCCGTCTCCAAAAAAATTTAAAAATTTAAAAAAATAAAATAAAGGGTAGAAATTCTACTTATAACTTGACAAAAGGGTAATGTGCACACATGTAACTTAAACAGTAATCTCACTTTTAAATTAAAAACTGTAAAGTACTAATAGAACCCGAGGAGTATATAAAAATATATTTAATACTTATTTTTTTTTTGAGACAAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAAGTCTGCCTTCCAGGTTCACACCATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATATTTTTGTATTTTTTTAGTAGAGACAGGGTTTCACCATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAATGCTGGGATTATAGGCATGAGCCACCGCACCCGGCCAAAGATATATTTAATACTTATTAAAGGATACATTTTGGAAAATTTTTGAAAGAAAACTTGAATTCATACCCATGTTGCACAAATCCACACCAAGAATCTATCCTGCAGACAAACTTAAGTGTACACACGCACACGCTCTTCCACTGAAACAAGATGCCAAATCATCTGCATGAATTCATTTAAGTTAAAAAACAACAAGAACACATACAATATTGTGTTTTACAATAAGAAAACAAATTTTTAAAAATATCACAACAGATGGTGTGCATGTGTAGCCCTAGCTATTTGGGAGGCTGAGGTGGCTCACTTGAGCCCAGGAGTGAGGAGCTATAGTGATCATGTCCACTGCACTCCAGGCCTGGGAGACAGAGTGAGTCAGTCTCTTAAAAGAAAAAAAAAACAAGGATCTCCTGGGCTCAAGAGATTCTTCTGCCTTAGCCTACCAAGTAGCTGGGATTGCAGGCATGCACCACCACGCCCAGCTAATCTTTTATATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCCGTATCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGACCGGTCCCAGTCATGAAATCCTATTGGCAGAATCCAACCACTTCATACCACCTCAACTACACTCAATCTAGTCCAAGTCACTATCTTTTCTCAAATGGGTTTCTTCAAGCCTCCTAACTGATCCTCCTCCTACTGGTTCTTACTTCCAAATCAATCAACACAGTAATCAGTGTAAATCTTGTTTTAAAATCTCAATCACATCATACCAACCTCATAATCTTCCAAATGACTTCTCATCTCACGAGGAATAGAAACCAAACTTCTTGCATGGTTCCCACAAGGTCCTATAGTATTTGTCGCCTCTATCCCCTCTCTCTGACTTCACCTCATTTTTTTGTTACTCTCCTAGCTGACACTACCAGTTACTCTGATTTCCTTGCTATATTTCTCCAAGATAGCAGGCAACCTTCCAGATCACAGGCCTCTGCACTTGGCTCTTCAACCACTAATTCCATGGTCATTCTCTCACATCGTGTCTTTTTCTTTAAATGTCAGTATTCAAAGTAACTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAAGCTCCGCCTCCTAGCTTCATGCCATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACAACACCTGACTAATGTTTGTATTTTTTGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGTGTCCGGCCCAAAGTAAGTTTTATTTAGAAATACAAGTGAAAGGCCAGGCGCGGTGGCTCACGCCTGTATTCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT	G	G46050662C	KANSL1	NM_015443.4(KANSL1):c.1849-4661_1895del	coding	Pathogenic
17	46050681	GCGGATTGTGCTGTTCCGGTGAACCTGTGAAAAAAGCCAAACAAAACTGA	G	G46050683A	KANSL1	NM_015443.4(KANSL1):c.1849-26_1871del	coding	Pathogenic
17	46066727	T	TATACAA	G46066728A	KANSL1	NM_015443.4(KANSL1):c.1657_1658insTTGTAT:p.Gln553delinsLeuValTer	coding	Pathogenic
17	46082485	GAAGA	G	G46082488T	KANSL1	NM_015443.4(KANSL1):c.1485_1488del:p.Leu496fs	coding	Pathogenic
17	46094662	T	TG	C46094664G	KANSL1	NM_015443.4(KANSL1):c.1328dup:p.Ala444fs	coding	Pathogenic
17	46094839	CA	C	A46094841G	KANSL1	NM_015443.4(KANSL1):c.1290-139del	noncoding	Benign
17	46171033	GA	G	A46171036G	KANSL1	NM_015443.4(KANSL1):c.1110del:p.Phe370_Leu371insTer	coding	Pathogenic
17	46171355	CA	C	A46171357T	KANSL1	NM_015443.4(KANSL1):c.788del:p.Leu263fs	coding	Pathogenic
17	46171444	C	CA	G46171446A	KANSL1	NM_015443.4(KANSL1):c.699dup:p.Val234fs	coding	Pathogenic
17	46171632	T	TCATGATCAGAA	T46171644C	KANSL1	NM_015443.4(KANSL1):c.501_511dup:p.Asp171fs	coding	Pathogenic
17	46172545	T	TA	T46172555A	KANSL1	NM_015443.4(KANSL1):c.-89-322dup	noncoding	Benign
17	46192310	T	TAAA	G46192324A	KANSL1	NM_015443.4(KANSL1):c.-90+500_-90+502dup	noncoding	Benign
17	46192310	T	TAA	G46192324A	KANSL1	NM_015443.4(KANSL1):c.-90+500_-90+501dup	noncoding	Benign
17	46192310	T	TA	G46192324A	KANSL1	NM_015443.4(KANSL1):c.-90+500dup	noncoding	Benign
17	46192470	CAAGAG	C	A46192474T	KANSL1	NM_015443.4(KANSL1):c.-90+348_-90+352del	noncoding	Benign
17	46773640	T	TC	T46773650C	WNT3	NM_030753.5(WNT3):c.322+19dup	noncoding	Benign
17	46773649	CT	C	T46773650C	WNT3	NM_030753.5(WNT3):c.322+18del	noncoding	Benign/Likely_benign
17	46923155	A	AAGCCAG	G46923166A	GOSR2	NM_001012511.3(GOSR2):c.-32_-31insCCAGAGCCAG	noncoding	Benign
17	46923211	C	CA	C46923215A	GOSR2	NM_004287.5(GOSR2):c.22dup:p.Thr8fs	coding	Pathogenic
17	46929576	CTG	C	T46929579C	GOSR2	NM_004287.5(GOSR2):c.89_90del:p.Val30fs	coding	Pathogenic
17	46931161	AT	A	T46931165G	GOSR2	NM_004287.5(GOSR2):c.161del:p.Leu54fs	coding	Pathogenic
17	46932071	GT	G	T46932073G	GOSR2	NM_004287.5(GOSR2):c.210del:p.Asp71fs	coding	Pathogenic
17	46935113	A	AT	A46935118T	GOSR2	NM_004287.5(GOSR2):c.425dup:p.Leu142fs	coding	Pathogenic
17	46935183	TG	T	G46935188A	GOSR2	NM_004287.5(GOSR2):c.477+19del	coding	Benign
17	46939046	G	GTGGCTTTGT	C46939057G	GOSR2	NM_004287.5(GOSR2):c.*288_*296dup	coding	Benign/Likely_benign
17	47157040	CA	C	A47157041G	CDC27	NM_001256.6(CDC27):c.714del:p.Ala238_Val239insTer	coding	Pathogenic
17	47213737	TG	T	G47213743C	MYL4	NM_002476.2(MYL4):c.136-56del	noncoding	Benign
17	47213871	T	TGGA	A47213893G	MYL4	NM_002476.2(MYL4):c.163+46GGA[8]	noncoding	Benign
17	47219973	GC	G	C47219974G	MYL4	NM_002476.2(MYL4):c.234del:p.Cys78fs	coding	Pathogenic
17	47253911	TG	T	G47253916C	ITGB3	NM_000212.3(ITGB3):c.55del:p.Ala19fs	coding	Pathogenic
17	47274490	TG	T	G47274492T	ITGB3	NM_000212.3(ITGB3):c.153del:p.Trp51fs	coding	Pathogenic
17	47283410	CTG	C	T47283413C	ITGB3	NM_000212.3(ITGB3):c.225_226del:p.Ala76fs	coding	Pathogenic
17	47284692	ATGAG	A	G47284694A	ITGB3	NM_000212.3(ITGB3):c.613_614+2del	coding	Pathogenic
17	47286318	CA	C	A47286319G	ITGB3	NM_000212.3(ITGB3):c.674del:p.Gln225fs	coding	Pathogenic
17	47286351	CAG	C	A47286354T	ITGB3	NM_000212.3(ITGB3):c.709_710del:p.Ser237fs	coding	Pathogenic
17	47286400	TC	T	C47286401A	ITGB3	NM_000212.3(ITGB3):c.756del:p.Met253fs	coding	Pathogenic
17	47287024	ATTTGT	A	T47287030C	ITGB3	NM_000212.3(ITGB3):c.778-40_778-36del	noncoding	Benign
17	47287151	AG	A	G47287153C	ITGB3	NM_000212.3(ITGB3):c.861del:p.Arg287fs	coding	Pathogenic
17	47290448	A	AGAAG	A47290473G	ITGB3	NM_000212.3(ITGB3):c.1125+175GAAG[7]	noncoding	Benign
17	47290448	A	AGAAGGAAGGAAGGAAGGAAG	A47290473G	ITGB3	NM_000212.3(ITGB3):c.1125+175GAAG[11]	noncoding	Benign
17	47290953	G	GA	T47290958A	ITGB3	NM_000212.3(ITGB3):c.1129dup:p.Ile377fs	noncoding	Pathogenic
17	47291019	TG	T	G47291020C	ITGB3	NM_000212.3(ITGB3):c.1192del:p.Ala398fs	coding	Pathogenic
17	47292174	TC	T	C47292178A	ITGB3	NM_000212.3(ITGB3):c.1300del:p.Gln434fs	coding	Pathogenic
17	47292282	A	AC	T47292285C	ITGB3	NM_000212.3(ITGB3):c.1406dup:p.Pro469_Asn470insTer	coding	Pathogenic
17	47292333	AT	A	T47292334G	ITGB3	NM_000212.3(ITGB3):c.1456del:p.Cys486fs	coding	Pathogenic
17	47292397	TC	T	C47292400A	ITGB3	NM_000212.3(ITGB3):c.1522del:p.Gln508fs	coding	Pathogenic
17	47292402	GC	G	C47292403A	ITGB3	NM_000212.3(ITGB3):c.1525del:p.Gln509fs	coding	Pathogenic
17	47299344	AC	A	C47299345T	ITGB3	NM_000212.3(ITGB3):c.1728del:p.Ser577fs	coding	Pathogenic
17	47299401	CCAGCAATGGGCTGCTGTG	GTCACA	C47299401G	ITGB3	NM_000212.3(ITGB3):c.1784_1802delinsGTCACA:p.Ser595fs	coding	Pathogenic
17	47300338	C	CGT	C47300340T	ITGB3	NM_000212.3(ITGB3):c.1914-139_1914-138insTG	noncoding	Benign
17	47302736	ATGCAGTGAATT	A	T47302737G	ITGB3	NM_000212.3(ITGB3):c.2031_2041del:p.Asp677fs	coding	Pathogenic
17	47302770	CTG	C	G47302774C	ITGB3	NM_000212.3(ITGB3):c.2068_2069del:p.Val690fs	coding	Pathogenic
17	47733920	GAGATG	AGTTTA	G47733920A	TBX21	NM_013351.2(TBX21):c.466_471delinsAGTTTA:p.Glu156_Met157delinsSerLeu	coding	Pathogenic
17	47847612	GC	AT	G47847612A	SP6	NM_001258248.2(SP6):c.817_818delinsAT:p.Ala273Met	coding	Pathogenic
17	47847612	GC	TT	G47847612T	SP6	NM_001258248.2(SP6):c.817_818delinsAA:p.Ala273Lys	coding	Pathogenic
17	47946612	AG	A	G47946616T	PNPO	NM_018129.3(PNPO):c.620delG	noncoding	Pathogenic
17	48598409	CT	C	T48598420C	HOXB6	NM_018952.5(HOXB6):c.-78-182del	noncoding	Benign
17	49619224	GA	G	A49619226C	SPOP	NM_001007228.2(SPOP):c.352+9del	noncoding	Benign
17	49995355	CCT	C	T49995371C	DLX3	Single_allele	noncoding	Benign
17	50055726	TCAG	T	A50055743C	ITGA3	Single_allele	noncoding	Benign
17	50055743	A	AGCC	A50055749C	ITGA3	Single_allele	noncoding	Benign
17	50055922	GA	G	A50055923G	ITGA3	Single_allele	noncoding	Benign
17	50073930	GCT	G	T50073932C	ITGA3	NM_002204.4(ITGA3):c.1173_1174del:p.Pro392fs	coding	Pathogenic
17	50078538	GA	G	A50078539G	ITGA3	NM_002204.4(ITGA3):c.2297+255del	noncoding	Benign
17	50080461	T	TGG	T50080465G	ITGA3	NM_002204.4(ITGA3):c.2820+88_2820+89dup	noncoding	Benign
17	50080463	GGT	G	T50080505A	ITGA3	NM_002204.4(ITGA3):c.2820+89GT[20]	noncoding	Benign
17	50080463	GGTGTGT	G	T50080501A	ITGA3	NM_002204.4(ITGA3):c.2820+89GT[18]	noncoding	Benign
17	50080463	GGTGTGTGTGT	G	T50080497A	ITGA3	NM_002204.4(ITGA3):c.2820+89GT[16]	noncoding	Benign
17	50080505	T	TGTGA	A50080507T	ITGA3	NM_002204.4(ITGA3):c.2820+131_2820+132insTGAG	noncoding	Benign
17	50081222	AG	A	G50081225T	ITGA3	NM_002204.4(ITGA3):c.2821-85del	noncoding	Benign
17	50089556	GC	G	C50089557T	ITGA3	NM_002204.4(ITGA3):c.*479del	noncoding	Benign
17	50167434	TC	T	C50167435T	SGCA	NM_000023.4(SGCA):c.105del:p.Phe36fs	coding	Pathogenic
17	50167461	C	CGTTT	C50167466G	SGCA	NM_000023.4(SGCA):c.132_135dup:p.Leu46fs	coding	Pathogenic
17	50167668	AG	A	G50167669C	SGCA	NM_000023.4(SGCA):c.245del:p.Ser82fs	coding	Pathogenic
17	50167943	CCAGGTCA	C	G50167947C	SGCA	NM_000023.4(SGCA):c.313_319del:p.Val105Profs	noncoding	Pathogenic/Likely_pathogenic
17	50167952	AGCCTACAATCG	A	C50167954G	SGCA	NM_000023.4(SGCA):c.320_330del:p.Ala107fs	coding	Pathogenic
17	50168010	G	GA	C50168012A	SGCA	NM_000023.4(SGCA):c.377dup:p.Asp126fs	coding	Pathogenic
17	50168356	TC	T	C50168358A	SGCA	NM_000023.4(SGCA):c.386-16del	noncoding	Benign/Likely_benign
17	50168451	AG	A	G50168452C	SGCA	NM_000023.4(SGCA):c.464del:p.Ser155fs	coding	Pathogenic/Likely_pathogenic
17	50168470	T	TG	A50168477G	SGCA	NM_000023.4(SGCA):c.488dup:p.Leu164fs	coding	Pathogenic/Likely_pathogenic
17	50169414	T	TACACACACACAC	C50169447A	SGCA	NM_000023.4(SGCA):c.747+161AC[22]	noncoding	Benign
17	50169414	T	TACACACACAC	C50169447A	SGCA	NM_000023.4(SGCA):c.747+161AC[21]	noncoding	Benign
17	50169414	T	TACACACAC	C50169447A	SGCA	NM_000023.4(SGCA):c.747+161AC[20]	noncoding	Benign
17	50169414	T	TACACAC	C50169447A	SGCA	NM_000023.4(SGCA):c.747+161AC[19]	noncoding	Benign
17	50169414	T	TACAC	C50169447A	SGCA	NM_000023.4(SGCA):c.747+161AC[18]	noncoding	Benign
17	50169414	T	TAC	C50169447A	SGCA	NM_000023.4(SGCA):c.747+161AC[17]	noncoding	Benign
17	50170255	TG	T	G50170257T	SGCA	NM_000023.4(SGCA):c.862del:p.Val288fs	coding	Pathogenic
17	50170257	GTGGATGC	G	G50170259C	SGCA	NM_000023.4(SGCA):c.864_870del:p.Asp289fs	coding	Pathogenic
17	50170296	GC	G	C50170299T	SGCA	NM_000023.4(SGCA):c.904del:p.Leu302fs	coding	Pathogenic
17	50184475	CAA	C	A50184493G	COL1A1	NM_000088.4(COL1A1):c.*1025_*1026del	noncoding	Benign
17	50184475	C	CA	G50184495A	COL1A1	NM_000088.4(COL1A1):c.*1026dup	noncoding	Benign
17	50184820	G	GTGCT	G50184823C	COL1A1	NM_000088.4(COL1A1):c.*681_*682insAGCA	noncoding	Benign/Likely_benign
17	50185560	TCC	T	C50185561A	COL1A1	NM_000088.4(COL1A1):c.4335_4336del:p.Asp1446fs	coding	Pathogenic
17	50185564	AG	A	G50185569C	COL1A1	NM_000088.4(COL1A1):c.4332del:p.Leu1445fs	coding	Pathogenic
17	50185605	GT	G	T50185609G	COL1A1	NM_000088.4(COL1A1):c.4291del:p.Thr1431fs	coding	Pathogenic
17	50186352	C	CA	T50186354A	COL1A1	NM_000088.4(COL1A1):c.3969dup:p.Val1324fs	coding	Pathogenic
17	50186444	A	AT	G50186446T	COL1A1	NM_000088.4(COL1A1):c.3877dup:p.Met1293fs	coding	Pathogenic
17	50186506	TC	T	C50186508T	COL1A1	NC_000017.10:g.48263868del	coding	Pathogenic
17	50186742	GG	C	G50186742C	COL1A1	NM_000088.4(COL1A1):c.3711_3712delinsG:p.Ser1237fs	coding	Pathogenic
17	50186770	GTCACGGTCACGAA	G	T50186771C	COL1A1	NM_000088.4(COL1A1):c.3671_3683del:p.Val1224fs	coding	Pathogenic
17	50186804	CG	C	G50186806T	COL1A1	NM_000088.4(COL1A1):c.3649del:p.Arg1217fs	coding	Pathogenic
17	50186815	GC	G	C50186817A	COL1A1	NM_000088.4(COL1A1):c.3638del:p.Gly1213fs	coding	Pathogenic
17	50186863	GTC	G	T50186864G	COL1A1	NM_000088.4(COL1A1):c.3589_3590del:p.Asp1197fs	coding	Pathogenic
17	50186887	AG	A	G50186892A	COL1A1	NM_000088.4(COL1A1):c.3566del:p.Pro1189fs	coding	Pathogenic
17	50187051	A	AG	C50187057G	COL1A1	NM_000088.4(COL1A1):c.3494dup:p.Gly1166fs	coding	Pathogenic
17	50187113	CA	C	A50187114G	COL1A1	NM_000088.4(COL1A1):c.3432del:p.Gly1145fs	coding	Pathogenic
17	50187482	ACT	A	T50187484G	COL1A1	NM_000088.4(COL1A1):c.3423_3423+1del	noncoding	Pathogenic
17	50187942	T	TTCGCCTTACGGACTCCACTTATGACTCCCTAAAGCCCATGTCGAAGCCCCCATCGCTGGGTCAATAGTACTTGCCGCAGTACTCTTAAAACTAGGCGGCTTCAAAAAAATCGTAGCCTTCTCCACTTCAAGTCAACTAGGACTCATAATAGTTACAA	G50187949T	COL1A1	NM_000088.4(COL1A1):c.3302_3303insTTGTAACTATTATGAGTCCTAGTTGACTTGAAGTGGAGAAGGCTACGATTTTTTTGAAGCCGCCTAGTTTTAAGAGTACTGCGGCAAGTACTATTGACCCAGCGATGGGGGCTTCGACATGGGCTTTAGGGAGTCATAAGTGGAGTCCGTAAGGCGA:p.Glu1101delinsAspCysAsnTyrTyrGluSerTer	coding	Pathogenic
17	50188095	CG	C	G50188097C	COL1A1	NM_000088.4(COL1A1):c.3261del:p.Gly1088fs	noncoding	Pathogenic
17	50188106	CG	C	G50188109C	COL1A1	NM_000088.4(COL1A1):c.3250del:p.Arg1084fs	coding	Pathogenic
17	50188625	C	CACCACGGTCA	C50188636A	COL1A1	NM_000088.4(COL1A1):c.3102_3111dup:p.Glu1038Ter	coding	Pathogenic
17	50188772	GGAACCTTC	G	A50188774G	COL1A1	NM_000088.4(COL1A1):c.3061_3068del:p.Glu1021fs	coding	Pathogenic
17	50188789	GA	G	A50188790G	COL1A1	NM_000088.4(COL1A1):c.3051del:p.Pro1018fs	coding	Pathogenic
17	50188799	C	CAGAG	A50188817G	COL1A1	NM_000088.4(COL1A1):c.3046-20CT[10]	noncoding	Benign/Likely_benign
17	50188901	AC	A	C50188903T	COL1A1	NM_000088.4(COL1A1):c.3045+1del	noncoding	Pathogenic
17	50188927	TC	T	C50188929A	COL1A1	NM_000088.4(COL1A1):c.3020del:p.Gly1007fs	coding	Pathogenic
17	50188938	CA	C	A50188939G	COL1A1	NM_000088.4(COL1A1):c.3009del:p.Gly1004fs	coding	Pathogenic/Likely_pathogenic
17	50188939	A	AG	C50188946G	COL1A1	NM_000088.4(COL1A1):c.3008dup:p.Gly1004fs	coding	Pathogenic
17	50188978	TG	T	G50188979C	COL1A1	NM_000088.4(COL1A1):c.2969del:p.Ala990fs	coding	Pathogenic
17	50189193	CCT	C	T50189201C	COL1A1	NM_000088.4(COL1A1):c.2910_2911del:p.Gly971fs	coding	Pathogenic
17	50189197	TC	AT	T50189197A	COL1A1	NM_000088.4(COL1A1):c.2907_2908delinsAT:p.Arg970Ter	coding	Pathogenic
17	50189273	AC	A	C50189276T	COL1A1	NM_000088.4(COL1A1):c.2831delG	coding	Pathogenic
17	50189395	AG	A	G50189399A	COL1A1	NM_000088.4(COL1A1):c.2810del:p.Pro937fs	coding	Pathogenic
17	50189419	G	GCCAGGGGGA	A50189441G	COL1A1	NM_000088.4(COL1A1):c.2769TCCCCCTGG[3]:p.925PGP[3]	coding	Pathogenic
17	50189449	AG	A	G50189451A	COL1A1	NM_000088.4(COL1A1):c.2756del:p.Pro919fs	coding	Pathogenic
17	50189465	C	CCTGCGTCTTCCTGCTCCCCAGATGAGAGCCGCACTGGAGCCAGTGCATGGGGTGGG	A50189467T	COL1A1	NM_000088.4(COL1A1):c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG:p.Gly914fs	coding	Pathogenic
17	50189490	CG	C	G50189491C	COL1A1	NM_000088.4(COL1A1):c.2715del:p.Gly906fs	coding	Pathogenic
17	50189885	CTT	C	T50189887G	COL1A1	NM_000088.4(COL1A1):c.2585_2586del:p.Lys862fs	coding	Pathogenic
17	50190029	G	GC	A50190031C	COL1A1	NM_000088.4(COL1A1):c.2530dup:p.Ala844fs	coding	Pathogenic
17	50190088	AC	A	C50190090A	COL1A1	NM_000088.4(COL1A1):c.2471del:p.Gly824fs	coding	Pathogenic
17	50190266	CGTCCCTCGAGGTCCCAGGTCCCAGTCGGTGATGAAAAATGATGGGGGTCTTGGTACTCACAGGGGGGCCAGCAAAGCCAGCAGGGCCGGGGGGACCAGGCTCACCACGGTCTCCCTAGAAGAAAAGGAGTCAGATTGGAGAGATGCGCTGACAGGAGGGAAGGCGGGGATGCGGTGAGGGGAGAGGCAAGGGGTGAAGGCACAGACAGGGCCAGGGGTGCTGTGTGAAGGGAGGGAAGGGCCAAGTATGGGGTCTTAACAGGTCTTCTGTACTTACGGGGGCACCACGAGCTCCAGTGGGACCAGCAGGGCCGCTGGGACCACTTTCACCCTGAGAGCAAGGGACAAGAGGCTCAGGGTCAGGGCCTCCCCTGAATACTCCTAGTAGATGACCCCAGGAGAGCCTCCCCTCCTTCTGGTCCCTCCAGGTTCCCAGGTTGACAGCTCAGTTTGGCAGGACCTGCTCTCCCAACGCAACCCCACGGAACCGTGCCCAGGCCTGCTGAGGAGGCTATGTGTTAGGGCAGAAGGTGGGGAGGCGGCCACCTCACCTT	C	C50190270A	COL1A1	NM_000088.4(COL1A1):c.2341_2451+60del	noncoding	Pathogenic
17	50190332	GG	T	G50190332T	COL1A1	NM_000088.4(COL1A1):c.2445_2446delinsA:p.Pro817fs	coding	Pathogenic
17	50190369	ACCACGGTCT	TCAGCATCTCTCCTTCTCTCTGGGATCTGTCCCTCTTCTCGCTAATCCTCCCCTCTTCCCCTTTC	A50190369T	COL1A1	NM_000088.4(COL1A1):c.2400_2409delinsGAAAGGGGAAGAGGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGA:p.Asp801fs	coding	Pathogenic
17	50190870	CA	C	A50190871C	COL1A1	NM_000088.4(COL1A1):c.2289del:p.Gly764fs	coding	Pathogenic
17	50191381	ACT	A	C50191384G	COL1A1	NM_000088.4(COL1A1):c.2235_2235+1del	noncoding	Pathogenic
17	50191458	GC	G	C50191459T	COL1A1	NM_000088.4(COL1A1):c.2159del:p.Ser720fs	coding	Pathogenic
17	50191463	C	CGGGA	C50191469G	COL1A1	NM_000088.4(COL1A1):c.2151_2154dup:p.Gly719fs	coding	Pathogenic
17	50191812	ACCGTTGGC	A	G50191815C	COL1A1	NM_000088.4(COL1A1):c.2095_2102del:p.Ala699fs	coding	Pathogenic
17	50191829	GA	G	A50191830C	COL1A1	NM_000088.4(COL1A1):c.2085del:p.Arg697fs	coding	Pathogenic
17	50191842	AG	A	G50191847A	COL1A1	NM_000088.4(COL1A1):c.2072del:p.Pro691fs	coding	Pathogenic
17	50192648	CG	C	G50192653A	COL1A1	NM_000088.4(COL1A1):c.1920del:p.Gly641fs	coding	Pathogenic
17	50192674	CCT	C	T50192680G	COL1A1	NM_000088.4(COL1A1):c.1893_1894del:p.Arg631_Gly632insTer	coding	Pathogenic
17	50192682	GC	G	C50192684A	COL1A1	NM_000088.4(COL1A1):c.1886del:p.Gly629fs	coding	Pathogenic
17	50192805	CA	C	A50192806G	COL1A1	NM_000088.4(COL1A1):c.1866del:p.Gly623fs	coding	Pathogenic
17	50192806	A	AG	T50192812G	COL1A1	NM_000088.4(COL1A1):c.1865dup:p.Gly623fs	coding	Pathogenic
17	50192811	GT	G	T50192812C	COL1A1	NM_000088.4(COL1A1):c.1860del:p.Pro622fs	coding	Pathogenic
17	50192824	AG	A	G50192825C	COL1A1	NM_000088.4(COL1A1):c.1847del:p.Ala616fs	coding	Pathogenic
17	50192993	CG	C	G50192994A	COL1A1	NM_000088.4(COL1A1):c.1821del:p.Gly608fs	noncoding	Pathogenic
17	50193002	CA	C	A50193003G	COL1A1	NM_000088.4(COL1A1):c.1812del:p.Gly605fs	coding	Pathogenic/Likely_pathogenic
17	50193017	CA	C	A50193018C	COL1A1	NM_000088.4(COL1A1):c.1797del:p.Val600fs	coding	Pathogenic
17	50194130	A	AG	C50194137G	COL1A1	NM_000088.4(COL1A1):c.1667dup:p.Gly557fs	coding	Pathogenic
17	50194130	AG	A	G50194136C	COL1A1	NM_000088.4(COL1A1):c.1667del:p.Pro556fs	coding	Pathogenic
17	50194730	AG	A	G50194735T	COL1A1	NM_000088.4(COL1A1):c.1451del:p.Pro484fs	coding	Pathogenic
17	50194754	T	TCC	G50194757C	COL1A1	NM_000088.4(COL1A1):c.1426_1427dup:p.Pro477fs	coding	Pathogenic
17	50194771	CTCCTCGCTTTCCT	C	G50194777T	COL1A1	NM_000088.4(COL1A1):c.1398_1410del:p.Gly467fs	coding	Pathogenic
17	50194826	GC	G	C50194829T	COL1A1	NC_000017.10:g.48272188del	coding	Pathogenic
17	50195106	A	AG	A50195113G	COL1A1	NM_000088.4(COL1A1):c.1300-12dup	noncoding	Benign/Likely_benign
17	50195239	C	CCCTTGGGA	A50195250T	COL1A1	NM_000088.4(COL1A1):c.1284_1291dup:p.Gly431fs	coding	Pathogenic
17	50195260	C	CA	C50195261A	COL1A1	NM_000088.4(COL1A1):c.1270_1271insT:p.Gly424fs	coding	Pathogenic
17	50195261	C	CG	C50195266G	COL1A1	NM_000088.4(COL1A1):c.1269dup:p.Gly424fs	coding	Pathogenic
17	50195278	GA	G	A50195279G	COL1A1	NM_000088.4(COL1A1):c.1252del:p.Ser418fs	coding	Pathogenic
17	50195319	A	AC	A50195322C	COL1A1	NM_000088.4(COL1A1):c.1211dup:p.Ile405fs	coding	Pathogenic
17	50195455	C	CTAAAGG	G50195457A	COL1A1	NM_000088.4(COL1A1):c.1178_1179insCCTTTA:p.Gln393delinsHisLeuTer	coding	Pathogenic
17	50195583	C	CCAGCAGGGCCAGGGGGGCCAGGCTCACCACGCACACCCTGGGGACCTTCAGAGCCTCGGGGCCCTTGGGGACCAGCTTCACCCTGAATCAGAAGAAAGGACATATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTCGGGATGGCAGGAGGAAGGGGAGACAGGGACAGGAGAGCAATGATCAGGACTCTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACATGAACCCCTTGGCCCATGAGGGTCATGCTTAGAGGAGAGTGGGGGGTCTCACCTTAGCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTA	C50196328G	COL1A1	NM_000088.4(COL1A1):c.944_1123dup:p.Gly320_Lys352delinsValSerThrProGlyProLeuGlyAspProTer	coding	Pathogenic
17	50195643	GGCCCTTGGGGACCA	G	C50195646T	COL1A1	NM_000088.4(COL1A1):c.1065_1078del:p.Gly356fs	coding	Pathogenic
17	50195910	T	TG	T50195917G	COL1A1	NM_000088.4(COL1A1):c.1056+12dup	noncoding	Benign/Likely_benign
17	50195960	GC	G	C50195961G	COL1A1	NM_000088.4(COL1A1):c.1018del:p.Ala340fs	coding	Pathogenic
17	50195961	CG	C	G50195965C	COL1A1	NM_000088.4(COL1A1):c.1017del:p.Ala340fs	coding	Pathogenic
17	50196172	CA	C	A50196173G	COL1A1	NM_000088.4(COL1A1):c.984del:p.Gly329fs	coding	Pathogenic
17	50196360	CG	C	G50196365C	COL1A1	NM_000088.4(COL1A1):c.910del:p.Arg304fs	coding	Pathogenic
17	50196508	AC	A	C50196510A	COL1A1	NM_000088.4(COL1A1):c.878del:p.Gly293fs	coding	Pathogenic
17	50196639	TC	GGACCAGCAGGA	T50196639G	COL1A1	NM_000088.4(COL1A1):c.835_836delinsTCCTGCTGGTCC:p.Asp279fs	coding	Pathogenic
17	50197229	TC	T	C50197234T	COL1A1	NM_000088.3(COL1A1):c.700delG	coding	Pathogenic
17	50197229	T	TC	T50197235C	COL1A1	NM_000088.3(COL1A1):c.700dup	coding	Pathogenic
17	50197233	CCT	C	C50197234G	COL1A1	NM_000088.4(COL1A1):c.697-2_697-1del	coding	Pathogenic
17	50197750	A	AG	A50197756G	COL1A1	NM_000088.4(COL1A1):c.677dup:p.Gly227fs	coding	Pathogenic
17	50197820	TA	T	A50197822G	COL1A1	NM_000088.4(COL1A1):c.643-36del	noncoding	Benign
17	50197976	A	AG	A50197982G	COL1A1	NM_000088.4(COL1A1):c.614dup:p.Gly206fs	coding	Pathogenic
17	50197993	C	CT	G50197996T	COL1A1	NM_000088.4(COL1A1):c.597dup:p.Gly200fs	coding	Pathogenic
17	50198166	CA	C	A50198167C	COL1A1	NM_000088.4(COL1A1):c.582del:p.Ala195fs	coding	Pathogenic
17	50198170	AG	A	G50198176C	COL1A1	NM_000088.4(COL1A1):c.578del:p.Pro193fs	coding	Pathogenic/Likely_pathogenic
17	50198199	AG	A	G50198202A	COL1A1	NM_000088.4(COL1A1):c.549del:p.Ser184fs	coding	Pathogenic
17	50198461	GT	G	T50198463G	COL1A1	NM_000088.4(COL1A1):c.514del:p.Thr172fs	coding	Pathogenic
17	50198643	G	GC	A50198645C	COL1A1	NM_000088.4(COL1A1):c.472-140dup	noncoding	Benign
17	50199244	T	TC	G50199247C	COL1A1	NM_000088.4(COL1A1):c.452dup:p.Pro152fs	coding	Pathogenic
17	50199264	CG	C	G50199270T	COL1A1	NM_000088.4(COL1A1):c.432del:p.Gly145fs	coding	Pathogenic
17	50199301	ATC	A	T50199304G	COL1A1	NM_000088.4(COL1A1):c.394_395del:p.Asp132fs	coding	Pathogenic
17	50199316	GC	G	C50199318T	COL1A1	NM_000088.4(COL1A1):c.380del:p.Gly127fs	coding	Pathogenic
17	50199332	AG	A	G50199337A	COL1A1	NM_000088.4(COL1A1):c.370-6del	noncoding	Benign
17	50199428	CG	C	G50199433C	COL1A1	NM_000088.4(COL1A1):c.358del:p.Arg120fs	coding	Pathogenic
17	50199698	AGCCCCAGGCCCCAGGCCCCAG	A	A50199718G	COL1A1	NM_000088.4(COL1A1):c.298+20CTGGGGC[2]	noncoding	Benign
17	50199762	CG	C	G50199766C	COL1A1	NM_000088.4(COL1A1):c.288del:p.Asp97fs	coding	Pathogenic
17	50199887	GGTTTCCACAC	G	T50199890C	COL1A1	NM_000088.4(COL1A1):c.154_163del:p.Val52fs	coding	Pathogenic
17	50199903	GGT	G	G50199904C	COL1A1	NM_000088.4(COL1A1):c.146_147del:p.Asp49fs	coding	Pathogenic
17	50199912	AC	A	C50199914T	COL1A1	NM_000088.4(COL1A1):c.138del:p.Arg46fs	coding	Pathogenic
17	50201133	C	CA	G50201135A	COL1A1	NM_000088.4(COL1A1):c.103+277dup	noncoding	Benign
17	50201421	T	TC	T50201422C	COL1A1	NM_000088.4(COL1A1):c.92_93insG:p.Asp32fs	coding	Pathogenic
17	50201458	A	AG	A50201461G	COL1A1	NM_000088.4(COL1A1):c.55dup:p.Leu19fs	coding	Pathogenic
17	50201461	A	AT	G50201462T	COL1A1	NM_000088.4(COL1A1):c.52_53insA:p.Leu18fs	coding	Pathogenic
17	50201499	CA	C	A50201500C	COL1A1	NM_000088.4(COL1A1):c.14del:p.Val5fs	coding	Pathogenic
17	50354681	G	GA	G50354682A	XYLT2	NM_022167.4(XYLT2):c.804+98_804+99insA	noncoding	Benign
17	50355767	T	TG	C50355768G	XYLT2	NM_022167.4(XYLT2):c.1089-14_1089-13insG	noncoding	Benign
17	50561825	TG	T	G50561835C	CACNA1G	NM_018896.5(CACNA1G):c.242+134del	noncoding	Benign
17	50561825	T	TGAG	G50561827A	CACNA1G	NM_018896.5(CACNA1G):c.242+125_242+126insAGG	noncoding	Benign
17	50561825	T	TG	C50561836G	CACNA1G	NM_018896.5(CACNA1G):c.242+134dup	noncoding	Benign
17	50590660	AT	A	T50590661G	CACNA1G	NM_018896.5(CACNA1G):c.2453+39del	noncoding	Benign
17	50619518	C	CTGTGTGTGTGTTTGTG	T50619528G	CACNA1G	NM_018896.5(CACNA1G):c.5782-156_5782-155insGTTTGTGTGTGTGTGT	noncoding	Benign
17	56594280	GC	G	C56594281T	NOG	NM_005450.6(NOG):c.58del:p.Leu20fs	coding	Pathogenic
17	56594469	G	GC	G56594476C	NOG	NM_005450.6(NOG):c.252dup:p.Glu85fs	coding	Pathogenic
17	56594858	GC	T	G56594858T	NOG	NM_005450.6(NOG):c.635_636delinsT:p.Gly212fs	coding	Pathogenic
17	56595031	CT	C	T56595057C	NOG	NM_005450.6(NOG):c.*135del	noncoding	Benign
17	56595031	CTT	C	T56595056C	NOG	NM_005450.6(NOG):c.*134_*135del	noncoding	Benign
17	56595031	CTTT	C	T56595055C	NOG	NM_005450.6(NOG):c.*133_*135del	noncoding	Benign
17	56834856	C	CACCT	G56834861A	DGKE	NM_003647.3(DGKE):c.62_65dup:p.Ile23fs	coding	Pathogenic
17	56843797	C	CAAAAAA	G56843815A	DGKE	NM_003647.3(DGKE):c.465-210_465-205dup	noncoding	Benign
17	56843797	C	CAAAAA	G56843815A	DGKE	NM_003647.3(DGKE):c.465-209_465-205dup	noncoding	Benign
17	56843797	C	CA	G56843815A	DGKE	NM_003647.3(DGKE):c.465-205dup	noncoding	Benign
17	56845679	AT	A	T56845687A	DGKE	NM_003647.3(DGKE):c.625-3del	noncoding	Benign
17	56845819	GA	G	A56845826C	DGKE	NM_003647.3(DGKE):c.744+17del	noncoding	Benign
17	56846090	CAT	C	A56846093T	DGKE	NM_003647.3(DGKE):c.744+284_744+285del	noncoding	Benign
17	56849198	CAAAT	C	T56849202G	DGKE	NM_003647.3(DGKE):c.1068_1071del:p.Asn356fs	coding	Pathogenic
17	57979243	T	TTGTTGTTGC	C57979246T	VEZF1	NM_007146.3(VEZF1):c.1046_1047insGCAACAACA:p.Gln352_Gln354dup	coding	Benign
17	58205727	AC	A	C58205728A	MKS1	NM_017777.4(MKS1):c.*351del	noncoding	Benign
17	58207958	C	CGAGAG	C58207966G	MKS1	NM_017777.4(MKS1):c.1204_1208dup:p.Leu404fs	coding	Pathogenic
17	58208143	G	GT	G58208145T	MKS1	NM_017777.4(MKS1):c.1126dup:p.Thr376fs	coding	Pathogenic/Likely_pathogenic
17	58208178	TA	T	A58208183G	MKS1	NM_017777.4(MKS1):c.1096-5del	noncoding	Benign
17	58208536	AG	A	G58208538T	MKS1	NM_017777.4(MKS1):c.1071del:p.Cys358fs	coding	Pathogenic/Likely_pathogenic
17	58210989	CATTTACAAAGA	C	A58210990G	MKS1	NM_017777.4(MKS1):c.938_948del:p.Leu313fs	coding	Pathogenic
17	58211012	C	CTTAGA	C58211013T	MKS1	NM_017777.4(MKS1):c.925_926insTCTAA:p.Gly309delinsValTer	coding	Pathogenic
17	58211019	CA	C	A58211020G	MKS1	NM_017777.4(MKS1):c.918del:p.Val307fs	coding	Pathogenic
17	58212982	ATC	A	T58212983C	MKS1	NM_017777.4(MKS1):c.856_857del:p.Asp286fs	coding	Pathogenic
17	58213028	TG	T	G58213034A	MKS1	NM_017777.4(MKS1):c.811del:p.His271fs	coding	Pathogenic
17	58213034	G	GA	C58213038A	MKS1	NM_017777.4(MKS1):c.805dup:p.Ser269fs	coding	Pathogenic
17	58218619	CTGGCAGT	C	A58218624T	MKS1	NM_017777.4(MKS1):c.184_190del:p.Thr62fs	noncoding	Pathogenic/Likely_pathogenic
17	58572009	TCAGA	T	G58572012A	TEX14	NM_031272.5(TEX14):c.3625_3628del:p.Ser1209fs	coding	Pathogenic
17	58573205	TGGTAG	T	G58573207T	TEX14	NM_031272.5(TEX14):c.3482_3486del:p.Pro1161fs	coding	Pathogenic
17	58692629	GCAGGTGAGCCTGCGATGCGCGGGAAGA	G	A58692631G	RAD51C	NM_058216.3(RAD51C):c.-13_14del:p.Met1_Thr5del	noncoding	Pathogenic
17	58692715	G	GAT	G58692716A	RAD51C	NM_058216.3(RAD51C):c.72_73insAT:p.Val25fs	coding	Pathogenic
17	58692723	T	TG	T58692726G	RAD51C	NM_058216.3(RAD51C):c.82dup:p.Val28fs	coding	Pathogenic
17	58692784	CA	C	A58692787G	RAD51C	NM_058216.3(RAD51C):c.144del:p.Glu49fs	coding	Pathogenic
17	58694951	GA	G	A58694953G	RAD51C	NM_058216.3(RAD51C):c.168del:p.Ala57fs	coding	Pathogenic
17	58694983	AGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGT	A	A58694985T	RAD51C	NM_058216.3(RAD51C):c.200_254del:p.Glu67fs	coding	Pathogenic
17	58694994	CAAAT	C	T58694998C	RAD51C	NM_058216.3(RAD51C):c.213_216del:p.Lys72fs	coding	Pathogenic
17	58695021	C	CT	G58695023T	RAD51C	NM_058216.3(RAD51C):c.237dup:p.Glu80Ter	coding	Pathogenic
17	58695026	TCACA	G	T58695026G	RAD51C	NM_058216.3(RAD51C):c.241_245delinsG:p.Ser81fs	coding	Pathogenic
17	58695027	C	CACAGATGT	C58695031G	RAD51C	NM_058216.3(RAD51C):c.245_246insGATGTACA:p.His82fs	coding	Pathogenic
17	58695118	TG	T	G58695123T	RAD51C	NM_058216.3(RAD51C):c.338del:p.Gly113fs	coding	Pathogenic
17	58695139	G	GA	C58695144A	RAD51C	NM_058216.3(RAD51C):c.358dup:p.Thr120fs	coding	Pathogenic
17	58695174	GA	G	A58695179C	RAD51C	NM_058216.3(RAD51C):c.394del:p.Thr132fs	coding	Pathogenic
17	58696691	AGTATGCAGTTGGCAGTAGATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACAGAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTTCAGCTTATAGCAGAAAAACACAAGGGAGAG	A	T58696693G	RAD51C	NM_058216.3(RAD51C):c.405_571del	noncoding	Pathogenic
17	58696728	G	GT	G58696733T	RAD51C	NM_058216.3(RAD51C):c.444dup:p.Gly149fs	coding	Pathogenic
17	58696728	GT	G	T58696732G	RAD51C	NM_058216.3(RAD51C):c.444del:p.Phe148fs	coding	Pathogenic/Likely_pathogenic
17	58696751	G	GC	A58696753C	RAD51C	NM_058216.3(RAD51C):c.464dup:p.Val156fs	coding	Pathogenic
17	58696759	T	TA	T58696761A	RAD51C	NM_058216.3(RAD51C):c.472dup:p.Ile158fs	coding	Pathogenic
17	58696770	AG	A	G58696773A	RAD51C	NM_058216.3(RAD51C):c.485del:p.Gly162fs	coding	Pathogenic
17	58696776	GTT	G	T58696779A	RAD51C	NM_058216.3(RAD51C):c.491_492del:p.Phe164fs	coding	Pathogenic
17	58696782	TG	T	G58696784T	RAD51C	NM_058216.3(RAD51C):c.496del:p.Val166fs	coding	Pathogenic
17	58696789	T	TA	G58696791A	RAD51C	NM_058216.3(RAD51C):c.502dup:p.Arg168fs	coding	Pathogenic
17	58696810	T	TC	G58696811C	RAD51C	NM_058216.3(RAD51C):c.522_523insC:p.Ala175fs	coding	Pathogenic
17	58696824	AC	A	C58696826T	RAD51C	NM_058216.3(RAD51C):c.538del:p.Leu180fs	coding	Pathogenic
17	58696839	CAGA	AAG	C58696839A	RAD51C	NM_058216.3(RAD51C):c.551_554delinsAAG:p.Ala184fs	coding	Pathogenic
17	58696849	CAA	C	A58696850G	RAD51C	NM_058216.3(RAD51C):c.562_563del:p.Lys188fs	coding	Pathogenic
17	58703234	AT	A	T58703236C	RAD51C	NM_058216.3(RAD51C):c.612del:p.Leu205fs	coding	Pathogenic
17	58703237	CTT	C	T58703239C	RAD51C	NM_058216.3(RAD51C):c.615_616del:p.His207fs	coding	Pathogenic
17	58703258	CG	C	G58703259C	RAD51C	NM_058216.3(RAD51C):c.635del:p.Arg212fs	coding	Pathogenic
17	58703295	A	AT	C58703297T	RAD51C	NM_058216.3(RAD51C):c.672dup:p.Leu225fs	coding	Pathogenic
17	58703310	TC	T	C58703312T	RAD51C	NM_058216.3(RAD51C):c.688del:p.Leu230fs	coding	Pathogenic
17	58703315	TC	T	C58703316A	RAD51C	NM_058216.3(RAD51C):c.692del:p.Leu230_Ser231insTer	coding	Pathogenic
17	58703316	CAG	AA	C58703316A	RAD51C	NM_058216.3(RAD51C):c.692_694delinsAA:p.Ser231_Glu232delinsTer	coding	Pathogenic
17	58703325	C	CA	G58703329A	RAD51C	NM_058216.3(RAD51C):c.704dup:p.Val236fs	coding	Pathogenic
17	58709858	GGTTCGACTAGTGATAGTGGATGGTATTGCTTTTCCATTTCGTCATGACCTAGATGACCTGTCTCTTCGTACTCGGTTATTAAATGGCCTAGCCCAGCAAATGATCAGCCTTGCAAATAATCACAGATTAGCTGT	G	G58709859A	RAD51C	NM_058216.3(RAD51C):c.706_837+2del	noncoding	Pathogenic
17	58709924	T	TCGTACTCGGTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A58709939T	RAD51C	NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT:p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer	coding	Pathogenic
17	58709947	TA	T	A58709948G	RAD51C	NM_058216.3(RAD51C):c.795del:p.Ala266fs	coding	Pathogenic
17	58720767	AC	A	C58720768A	RAD51C	NM_058216.3(RAD51C):c.860del:p.Thr287fs	coding	Pathogenic
17	58720768	CA	C	A58720770C	RAD51C	NM_058216.3(RAD51C):c.862del:p.Thr288fs	coding	Pathogenic
17	58720771	CAA	C	A58720773G	RAD51C	NM_058216.3(RAD51C):c.865_866del:p.Lys289fs	coding	Pathogenic
17	58720783	GA	G	A58720786T	RAD51C	NM_058216.3(RAD51C):c.878del:p.Asn293fs	coding	Pathogenic
17	58724037	CA	C	A58724038G	RAD51C	NM_058216.3(RAD51C):c.905-2del	noncoding	Pathogenic/Likely_pathogenic
17	58724048	TG	T	G58724052A	RAD51C	NM_058216.3(RAD51C):c.917del:p.Gly306fs	coding	Pathogenic
17	58724077	C	CT	C58724081T	RAD51C	NM_058216.3(RAD51C):c.945dup:p.His316fs	coding	Pathogenic
17	58732481	CAGGTTGGCAACATTGTACAAGTCACCCAGCCAGAAGGAATGCACAGTACTGTTTCAAATCAAAG	C	A58732482T	RAD51C	NM_058216.3(RAD51C):c.966-2_1026+1del	noncoding	Pathogenic
17	58734102	A	AT	A58734109T	RAD51C	NM_058216.3(RAD51C):c.1027-10dup	noncoding	Benign/Likely_benign
17	59049361	C	CT	C59049364T	TRIM37	NM_015294.6(TRIM37):c.1346dup:p.Ser450fs	coding	Pathogenic/Likely_pathogenic
17	59064372	AAAAGT	A	A59064374G	TRIM37	NM_015294.6(TRIM37):c.838_842del:p.Thr280fs	coding	Pathogenic/Likely_pathogenic
17	59075563	CA	C	A59075584C	TRIM37	NM_015294.6(TRIM37):c.684+83del	noncoding	Benign
17	59075563	C	CA	C59075585A	TRIM37	NM_015294.6(TRIM37):c.684+63dup	noncoding	Benign
17	59081141	GT	G	T59081144G	TRIM37	NM_015294.6(TRIM37):c.447del:p.Lys149fs	coding	Pathogenic
17	59091325	GCT	G	C59091328G	TRIM37	NM_015294.6(TRIM37):c.137_138del:p.Glu46fs	coding	Pathogenic
17	59091509	TCA	T	C59091510T	TRIM37	NM_015294.6(TRIM37):c.124-171_124-170del	noncoding	Benign
17	59210489	C	CA	G59210493A	SMG8	NM_018149.7(SMG8):c.441dup:p.Val148fs	coding	Pathogenic
17	59673636	C	CT	C59673644T	CLTC	NM_004859.4(CLTC):c.2293-4dup	noncoding	Benign
17	59674679	TTC	T	C59674681A	CLTC	NM_004859.4(CLTC):c.2419-20_2419-19del	noncoding	Benign
17	59677037	TCTAC	T	C59677038A	CLTC	NM_004859.4(CLTC):c.2646_2649del:p.Ile882_Tyr883insTer	coding	Pathogenic
17	59679420	CAA	C	A59679423G	CLTC	NM_004859.4(CLTC):c.2823_2824del:p.Leu943fs	coding	Pathogenic
17	59681279	C	CT	C59681288T	CLTC	NM_004859.4(CLTC):c.3066-8dup	noncoding	Benign
17	59683372	GTCTT	G	T59683377A	CLTC	NM_004859.4(CLTC):c.4042-10_4042-7del	noncoding	Benign
17	59683682	CTGT	C	G59683687A	CLTC	NM_004859.4(CLTC):c.4251GTT[1]:p.Leu1419del	coding	Pathogenic
17	59685041	C	CT	A59685053T	CLTC	NM_004859.4(CLTC):c.4435-4dup	noncoding	Benign
17	59685041	CT	C	T59685052A	CLTC	NM_004859.4(CLTC):c.4435-4del	noncoding	Benign
17	59685667	AAG	A	A59685672T	CLTC	NM_004859.4(CLTC):c.4691_4692del:p.Glu1564fs	coding	Pathogenic
17	60600180	TG	T	G60600186A	PPM1D	Single_allele	noncoding	Benign
17	60662995	T	TC	A60662997C	PPM1D	NM_003620.4(PPM1D):c.1262dup:p.Leu422fs	coding	Pathogenic
17	60663011	C	CA	T60663013A	PPM1D	NM_003620.4(PPM1D):c.1278dup:p.Trp427fs	coding	Pathogenic
17	61404804	GC	G	C61404805G	TBX2	NM_005994.4(TBX2):c.1051+36del	noncoding	Benign
17	61465716	AAAG	A	A61465717G	TBX4	NM_001321120.2(TBX4):c.282-102_282-100del	noncoding	Benign
17	61465719	G	GTT	G61465720T	TBX4	NM_001321120.2(TBX4):c.282-100_282-99insTT	noncoding	Benign
17	61478743	CTCCT	C	C61478746A	TBX4	NM_001321120.2(TBX4):c.669_672del:p.Phe224fs	coding	Pathogenic
17	61480290	GC	G	C61480292T	TBX4	NM_001321120.2(TBX4):c.994del:p.Leu332fs	coding	Pathogenic
17	61483613	A	AGTGT	A61483654G	TBX4	NM_001321120.2(TBX4):c.*98GT[22]	noncoding	Benign
17	61685986	A	GG	A61685986G	BRIP1	NM_032043.3(BRIP1):c.2755delinsCC:p.Ser919fs	coding	Pathogenic
17	61685991	CTGTACTTT	C	T61685992A	BRIP1	NM_032043.3(BRIP1):c.2742_2749del:p.Lys915fs	coding	Pathogenic
17	61685999	TA	T	A61686002G	BRIP1	NM_032043.3(BRIP1):c.2741del:p.Ser913_Leu914insTer	coding	Pathogenic
17	61686010	CTT	C	T61686011C	BRIP1	NM_032043.3(BRIP1):c.2729_2730del:p.Glu910fs	coding	Pathogenic
17	61686034	GTA	G	A61686038T	BRIP1	NM_032043.3(BRIP1):c.2705_2706del:p.Ile902fs	coding	Pathogenic
17	61686070	CT	C	T61686075G	BRIP1	NM_032043.3(BRIP1):c.2670del:p.Val891fs	coding	Pathogenic
17	61693483	G	GCT	C61693487T	BRIP1	NM_032043.3(BRIP1):c.2520_2521dup:p.Ala841fs	coding	Pathogenic
17	61693485	TC	T	C61693489A	BRIP1	NM_032043.3(BRIP1):c.2519del:p.Gly840fs	coding	Pathogenic
17	61693485	T	TCCCCAATCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	G61693500T	BRIP1	NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG:p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly	coding	Pathogenic
17	61693494	AT	A	T61693497C	BRIP1	NM_032043.3(BRIP1):c.2510del:p.Asn837fs	coding	Pathogenic
17	61715983	T	TTGAATTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCGGCATCAGAGGGAGACCGTGGAGGTAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGC	A61715992T	BRIP1	NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA:p.Ala821fs	coding	Pathogenic
17	61715996	CA	AGGCCAGGTAGAAGAC	C61715996A	BRIP1	NM_032043.3(BRIP1):c.2446_2447delinsGTCTTCTACCTGGCCT:p.Trp816fs	coding	Pathogenic
17	61715997	A	AGGTAGAAGAC	C61715998G	BRIP1	NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC:p.Trp816fs	coding	Pathogenic
17	61716070	A	AT	A61716075T	BRIP1	NM_032043.3(BRIP1):c.2380-11dup	noncoding	Benign
17	61743072	CATCTGAG	C	T61743074A	BRIP1	NM_032043.3(BRIP1):c.2313_2319del:p.Phe771fs	coding	Pathogenic
17	61743090	CCTCA	C	C61743097T	BRIP1	NM_032043.3(BRIP1):c.2298_2301del:p.Ser766fs	coding	Pathogenic
17	61743127	AG	A	G61743128C	BRIP1	NM_032043.3(BRIP1):c.2264del:p.Ala755fs	coding	Pathogenic
17	61743146	G	GA	G61743153A	BRIP1	NM_032043.3(BRIP1):c.2258-13dup	noncoding	Benign
17	61744389	TA	T	A61744395T	BRIP1	NM_032043.3(BRIP1):c.2257+42del	noncoding	Benign
17	61744397	AT	A	T61744403C	BRIP1	NM_032043.3(BRIP1):c.2257+34del	noncoding	Benign
17	61744491	G	GTT	C61744498T	BRIP1	NM_032043.3(BRIP1):c.2196_2197dup:p.Thr733fs	coding	Pathogenic
17	61744491	GT	G	T61744497C	BRIP1	NM_032043.3(BRIP1):c.2197del:p.Thr733fs	coding	Pathogenic
17	61744550	TA	T	A61744553C	BRIP1	NM_032043.3(BRIP1):c.2138del:p.Leu713fs	coding	Pathogenic
17	61744579	AT	A	T61744584C	BRIP1	NM_032043.3(BRIP1):c.2109del:p.Lys703fs	coding	Pathogenic
17	61744585	CT	C	T61744586A	BRIP1	NM_032043.3(BRIP1):c.2103del:p.Glu702fs	coding	Pathogenic
17	61744606	GA	G	A61744613T	BRIP1	NM_032043.3(BRIP1):c.2098-16del	noncoding	Benign/Likely_benign
17	61744606	G	GA	T61744614A	BRIP1	NM_032043.3(BRIP1):c.2098-22dup	noncoding	Benign/Likely_benign
17	61776409	AT	A	T61776410G	BRIP1	NM_032043.3(BRIP1):c.2088del:p.Ser697fs	coding	Pathogenic
17	61776438	AC	A	C61776439A	BRIP1	NM_032043.3(BRIP1):c.2059del:p.Thr686_Val687insTer	coding	Pathogenic
17	61776444	TG	T	G61776446C	BRIP1	NM_032043.3(BRIP1):c.2053del:p.Gln685fs	coding	Pathogenic
17	61776474	T	TC	A61776476C	BRIP1	NM_032043.3(BRIP1):c.2023dup:p.Glu675fs	coding	Pathogenic
17	61776485	C	CATTT	T61776486A	BRIP1	NM_032043.3(BRIP1):c.2012_2013insAAAT:p.Phe672fs	coding	Pathogenic
17	61776523	T	TC	G61776526C	BRIP1	NM_032043.3(BRIP1):c.1974dup:p.Asn659fs	coding	Pathogenic
17	61776537	C	CCT	G61776540C	BRIP1	NM_032043.3(BRIP1):c.1959_1960dup:p.Gly654fs	coding	Pathogenic
17	61780238	C	CA	C61780250A	BRIP1	NM_032043.3(BRIP1):c.1935+22dup	noncoding	Benign
17	61780394	GA	G	A61780398G	BRIP1	NM_032043.3(BRIP1):c.1801del:p.Ser601fs	coding	Pathogenic
17	61780863	AG	A	G61780864T	BRIP1	NM_032043.3(BRIP1):c.1770del:p.Trp592fs	coding	Pathogenic
17	61780906	A	AT	G61780913T	BRIP1	NM_032043.3(BRIP1):c.1727dup:p.Asn576fs	coding	Pathogenic
17	61780938	CT	C	T61780939G	BRIP1	NM_032043.3(BRIP1):c.1695del:p.Asp566fs	coding	Pathogenic
17	61784289	GA	G	A61784290T	BRIP1	NM_032043.3(BRIP1):c.1608del:p.Leu537fs	coding	Pathogenic
17	61784291	TAGTC	T	G61784293A	BRIP1	NM_032043.3(BRIP1):c.1603_1606del:p.Asp535fs	coding	Pathogenic
17	61784397	CTTTTTGAAGAACA	C	T61784398G	BRIP1	NM_032043.3(BRIP1):c.1488_1500del:p.Val497fs	coding	Pathogenic
17	61793582	GA	G	A61793588T	BRIP1	NM_032043.3(BRIP1):c.1473+14del	noncoding	Benign
17	61793612	A	AG	T61793614G	BRIP1	NM_032043.3(BRIP1):c.1457dup:p.Pro488fs	coding	Pathogenic
17	61793612	AG	A	G61793613T	BRIP1	NM_032043.3(BRIP1):c.1457del:p.Thr486fs	coding	Pathogenic
17	61793652	AT	A	T61793655C	BRIP1	NM_032043.3(BRIP1):c.1417del:p.Met473fs	coding	Pathogenic
17	61793690	ATC	A	C61793694T	BRIP1	NM_032043.3(BRIP1):c.1378_1379del:p.Asp460fs	coding	Pathogenic
17	61793698	CTACAAGATATTCAGCG	C	A61793700T	BRIP1	NM_032043.3(BRIP1):c.1356_1371del:p.Asn452fs	coding	Pathogenic
17	61799105	GAGGCTAC	G	G61799108C	BRIP1	NM_032043.3(BRIP1):c.1328_1334del:p.Cys443fs	coding	Pathogenic
17	61799135	ATGATCTTTCTTCC	A	G61799137T	BRIP1	NM_032043.3(BRIP1):c.1292_1304del:p.Arg431fs	coding	Pathogenic
17	61799149	T	TTA	T61799155A	BRIP1	NM_032043.3(BRIP1):c.1289_1290dup:p.Arg431Ter	coding	Pathogenic
17	61799161	T	TGACCATACTATCTAGTTCATCCC	G61799187C	BRIP1	NM_032043.3(BRIP1):c.1256_1278dup:p.Asn427delinsGlyMetAsnTer	coding	Pathogenic
17	61799168	ACT	A	C61799169A	BRIP1	NM_032043.3(BRIP1):c.1270_1271del:p.Ser424fs	coding	Pathogenic
17	61799184	CGA	C	A61799186C	BRIP1	NM_032043.3(BRIP1):c.1254_1255del:p.Arg419fs	coding	Pathogenic
17	61799210	T	TA	C61799212A	BRIP1	NM_032043.3(BRIP1):c.1229dup:p.Thr411fs	coding	Pathogenic
17	61799235	GCA	G	C61799238G	BRIP1	NM_032043.3(BRIP1):c.1203_1204del:p.Ala402fs	coding	Pathogenic
17	61799242	C	CCTCGATG	T61799250C	BRIP1	NM_032043.3(BRIP1):c.1191_1197dup:p.Asp400fs	coding	Pathogenic
17	61799281	CT	C	T61799284C	BRIP1	NM_032043.3(BRIP1):c.1158del:p.Glu387fs	coding	Pathogenic
17	61799423	CAG	C	G61799427T	BRIP1	NM_032043.3(BRIP1):c.1141-126_1141-125del	noncoding	Benign
17	61801160	G	GA	C61801161A	BRIP1	NM_032043.3(BRIP1):c.1140+92_1140+93insT	noncoding	Benign
17	61801161	C	CA	T61801170A	BRIP1	NM_032043.3(BRIP1):c.1140+84dup	noncoding	Benign
17	61801315	GTATTAGTTCTCGGGCTGTGTAA	G	T61801319G	BRIP1	NM_032043.3(BRIP1):c.1056_1077del:p.Tyr353fs	coding	Pathogenic
17	61801320	A	AG	T61801322G	BRIP1	NM_032043.3(BRIP1):c.1072dup:p.Leu358fs	coding	Pathogenic/Likely_pathogenic
17	61801334	G	GT	A61801336T	BRIP1	NM_032043.3(BRIP1):c.1058dup:p.Tyr353Ter	coding	Pathogenic
17	61801343	AC	A	C61801344A	BRIP1	NM_032043.3(BRIP1):c.1049del:p.Cys350fs	coding	Pathogenic
17	61801349	CT	C	T61801352A	BRIP1	NM_032043.3(BRIP1):c.1043del:p.Lys348fs	coding	Pathogenic
17	61801402	TCCCTTGG	T	C61801403A	BRIP1	NM_032043.3(BRIP1):c.984_990del:p.Phe328fs	coding	Pathogenic
17	61801450	CA	C	A61801451T	BRIP1	NM_032043.3(BRIP1):c.942del:p.His314fs	coding	Pathogenic/Likely_pathogenic
17	61801457	AAAAT	A	A61801459G	BRIP1	NM_032043.3(BRIP1):c.932_935del:p.Tyr311fs	coding	Pathogenic/Likely_pathogenic
17	61808540	G	GT	A61808542T	BRIP1	NM_032043.3(BRIP1):c.844dup:p.Thr282fs	coding	Pathogenic
17	61808603	C	CT	A61808605T	BRIP1	NM_032043.3(BRIP1):c.781dup:p.Arg261fs	coding	Pathogenic
17	61808703	CTT	C	T61808704G	BRIP1	NM_032043.3(BRIP1):c.680_681del:p.Gln227fs	coding	Pathogenic
17	61847111	GA	G	A61847115G	BRIP1	NM_032043.3(BRIP1):c.616del:p.Ser206fs	coding	Pathogenic
17	61849130	T	TGCTGTGTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	C61849143T	BRIP1	NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC:p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer	coding	Pathogenic
17	61849189	ATCTC	A	C61849191G	BRIP1	NM_032043.3(BRIP1):c.443_446del:p.Arg148fs	coding	Pathogenic
17	61849191	CTCTG	T	C61849191T	BRIP1	NM_032043.3(BRIP1):c.441_445delinsA:p.Tyr147_Asp149delinsTer	coding	Pathogenic
17	61849225	CTT	C	T61849227G	BRIP1	NM_032043.3(BRIP1):c.409_410del:p.Lys137fs	coding	Pathogenic/Likely_pathogenic
17	61849249	A	AG	A61849254G	BRIP1	NM_032043.3(BRIP1):c.386dup:p.Pro129_Glu130insTer	coding	Pathogenic
17	61849476	A	AT	A61849483T	BRIP1	NM_032043.3(BRIP1):c.380-226dup	noncoding	Benign
17	61857074	A	AGTGCCATT	T61857083G	BRIP1	NM_032043.3(BRIP1):c.355_362dup:p.Ser122fs	coding	Pathogenic
17	61857080	AT	A	T61857083C	BRIP1	NM_032043.3(BRIP1):c.356del:p.Asn119fs	coding	Pathogenic
17	61857143	ATT	A	T61857144G	BRIP1	NM_032043.3(BRIP1):c.292_293del:p.Asn97_Asn98insTer	coding	Pathogenic
17	61857151	T	TA	T61857156A	BRIP1	NM_032043.3(BRIP1):c.285dup:p.Thr96fs	coding	Pathogenic
17	61857199	CT	C	T61857204C	BRIP1	NM_032043.3(BRIP1):c.237del:p.Ala80fs	coding	Pathogenic
17	61859820	A	AGAGATTGTTGCCATGCTTTGTTTTGTAAC	A61859821G	BRIP1	NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC:p.Leu61fs	coding	Pathogenic
17	61859872	C	CA	C61859876A	BRIP1	NM_032043.3(BRIP1):c.128dup:p.Leu43fs	coding	Pathogenic
17	61860483	AAACCCGTCTCTACTAAAAATCCAAAAATTAGCTGGGCGTGGTGGCGCATCCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATAGCTTCAGCCTGGGAGGCAGGGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAATCTGGGCGACAGAGTGAGACGCTGTCTCAAAAACAAAAAGAAAAAAGGAAGTTCACAGCAGCATTGTTTGTAACTGCAAAAGAATGTAAACAACCTAAATGTCTACCAATAAGAAAATGGACAGATAAATTCTGGTATATTCATCCAATGGAATTTATACAACAATTAAAATGGATTAAGAATCAACAGGGCTATACATTAAAAATAATGCTAAGTTAAAAAACTCAAGTTCTGCATAAAAAGTAAGGTACCGTATCACATCAATGCACAGTTTCAAATATGTAAAATAATATTCTATATTGTTTATGGATACATATATATGTAATAAAAGTATAAAAACATGGCTAGGAAAGGAAAAGAACAAATTCAGGATACTAATAATCTTGTTACCAGTAAATAAGATATGAAGTACATATGGCAAAATAGCTGTAACAAAACTGGAAAGCTGGTTTACTCAAATTTGTATATTAATTTTCTACATGATCCAAACAAAACAATGGTGAGAAAAATAGTATTCTGTGTAAAAGATAGTAAATACTCTGTTTTTACTTAAAAGTATAGCAGTTTTTCATTAAAAGTATAGAAATTCCAAATGAGCTGAGAACATTTTTCAGAATGTTCTTCTTTGCCTTAACCACAGATATATACAGTTTAGCTGCAATCAGTAGTTTCCCAGAGGTTAGATATTCTTCCAAGTGAACCCAGAAAATATTCTCCATTTACTGAGAATATGAATGCAGTCAAATACTCAATGTACTTTATGGGTCATAAGTATCTATATCTTAATAAAAACTTAACTGCTGAAAAATACTTACAGAATTCATCATAGCAAGCTGTGACGGGTAAGCTTTATAAGGAAAGTAAATCTTCACCCCACCAATTGTATATTCAGACCACATTGAAGACATAGTGCTTTCCTGTTTATTTCAGATTCCTAACTACAACAGAAATGAAAATGTCAAATATTGAGACACGCCTTACAAAGAAAACCAGAGAACCAAAACTAAGGGAGAAATCTGGAAACAGAAACTGGAATTAATAAAAGTATAAACAAAACAAATGGAAACAAAATAATTTCCTAGTCTTATAAATCACAGCGGTCAAGAGCATGTCTTAGAGTCTAACAAATCTAGATTTGTATCCTTCACTCTGCCAGGTATTAGTTGTGTGACTTCGGGAAAGTTAGTTACCTTCTCTAAGCCACAGTGACTGCATGTACCCCATAGGATTGTGGTAATGATTAAGTGAAATAATGTGCAAATATGATAAAGTACATACCAGATTAAACATGAGCTCTTGTAACAGTTAGATCAGATGTAATCAACCTACAGAAACAAATAAGTTCCTGAGGCCTCTCTCTCTACAACTCCGTAGCATCACTCTTTCTCCAGTTCTTCCCCTTTGTGTTACCCCTTTCTGCAGTCCTCCAGTTAGAAGAAAAAAGCTGTTGACCAGAAGTCAGGAAGCATAGGTTCTATACCAGGTTTTGGTATACTGCCTGGTATGTTATCTTTGACTCAGGTATGTTATCTTTGACATATCTTTTTACTTCTCTAGTCTAAGATCCTTACCTGTGATAACCCCTAATTTAATTTAAAGGCTGTTATAAGAAAGAGAATGCCTTGGCACATAGTAGGCACTCAAAAATGTTATTTGAAGATCAGTAGAGTATTATAGAAACAGGATGGGCTTTGGAGTAAGGCAATCCTAAGTTTGAATTCCACTGTGTGAATCACTTAACTTCTCAGAGCTTGTTTCTCCATATATGGAATTGAAATACTACTACTTACCTGACAGGGTTTTTATGAAAATTAGCCAGGGCAGAATGTACCTAACCCAGGATCTGATACAGATGAGGATCACTTTAATCCTCACCTCTTCTAAACCACTTTTCTTAACCTAGGATCCACGGATGTAATTCAGAGACAATGACCTCTTGAAATTGCAAGCATAAGTTTCTGTACATGATTGCATTTTTCTGAAGAAAAAGTCCATAGATTTCTCTTCCCGTAAATATATCTCAAGGAAATCAAAATAGCGGGGGAAATTACATGCACTGTTATTAAATAAGGAATTATTTGCAGTCGTGGGAAAAAATTGTAAATTCAACCTGGGGACGAAGAGATGGTTAAAATAGCAATTCAATAGATTATGAAGCCAATAATAACATTCACCACTGCTTGTGTGCTCCAAAAGAAGAACCATTATTCTAGGGTATTTTCCAGCTCTAACATTTTGCGATTCTATCTGTAAAGCTCTGAGAATGAGGTATGGTGGAATCTAACCTCTTAATATGAATCAACAACTCAACGCTGGCCTAGTTACTCAGATATAATCTAGAAATCAGCCCGTCCTGTACCCCGGCTGTGGCAACAATAGTGTCAAAATGGGGTAGCTTCCCCCAAACATTGCATAAAGGATAAACACACCCCTCTGCCTCCCGCCAAGAATTAACGCAGCGCCCGGGCTAAGAACAGGCCTGCGCTCAAAGGAGGTAAGGATAGGCTCCCTCCTCAGGTTTTCTGCCCCGTATCTCCCTCCTCCCCCAGCCAGTTGAGATCCCCGAGACCCTGGTGATCCAGTCACCACCCATGGGCCCGCAGGCTGTGCAGAAGAACTCAAGCCCTTTCCGTGGACTTCCCTCCGACTTGCCTGTCTGGAGGGAAACCGAAGCAACGCTCTGAGCTCCGATTCACTGAAGAAAAGGAAAGGAAACCGACTTCTGAGAGCAAATAAAGCGGAGCCCTGGAAGAGAAGAAAGGGCACGAGCCCTTCCTCCTCCCTCTTCCTGGGGGTGCTGCTACTTCCCCGGCCTTGTGTGCAGGACT	TGCGCCACCACGCCCAGCTAATTTTGGATTTTTAG	A61860483T	BRIP1	NM_032043.3(BRIP1):c.-206_94-576delinsCTAAAAATCCAAAATTAGCTGGGCGTGGTGGCGCA	noncoding	Pathogenic
17	61861468	T	TG	A61861470G	BRIP1	NM_032043.3(BRIP1):c.71dup:p.Gln25fs	coding	Pathogenic
17	61861486	AG	A	G61861488A	BRIP1	NM_032043.3(BRIP1):c.53del:p.Pro18fs	coding	Pathogenic
17	61861513	TG	T	G61861514T	BRIP1	NM_032043.3(BRIP1):c.26del:p.Thr9fs	coding	Pathogenic
17	61863656	G	GA	C61863674A	BRIP1	Single_allele	noncoding	Benign
17	61950955	T	TC	T61950958C	MED13	NM_005121.3(MED13):c.6160dup:p.Glu2054fs	coding	Pathogenic
17	61955777	CAT	C	A61955778G	MED13	NM_005121.3(MED13):c.5683_5684del:p.Met1895fs	coding	Pathogenic/Likely_pathogenic
17	61961694	GA	G	A61961699G	MED13	NM_005121.3(MED13):c.5149del:p.Ser1717fs	coding	Pathogenic
17	61965362	AG	A	G61965363T	MED13	NM_005121.3(MED13):c.4487del:p.Thr1496fs	coding	Pathogenic
17	61982536	CCA	C	C61982539G	MED13	NM_005121.3(MED13):c.3465_3466del:p.Cys1155fs	coding	Pathogenic
17	61984747	TCC	T	C61984748A	MED13	NM_005121.3(MED13):c.2593_2594del:p.Gly865fs	coding	Pathogenic
17	62481159	CG	C	G62481161C	TLK2	NM_006852.6(TLK2):c.36del:p.Gln13fs	coding	Pathogenic
17	62553696	GA	G	A62553700C	TLK2	NM_006852.6(TLK2):c.665del:p.Asn222fs	coding	Pathogenic
17	62573295	T	TG	T62573299G	TLK2	NM_006852.6(TLK2):c.1052dup:p.Gln352fs	coding	Pathogenic
17	63073964	CG	C	G63073966A	TANC2	NM_001394998.1(TANC2):c.91del:p.Asp31fs	coding	Pathogenic
17	63267759	G	GCCCACTTGGAAGA	T63267775C	TANC2	NM_001394998.1(TANC2):c.1048_1060dup:p.Leu354fs	coding	Pathogenic
17	63420360	CT	C	T63420362G	TANC2	NM_001394998.1(TANC2):c.4632del:p.Gly1545fs	coding	Pathogenic
17	63477128	CTGCTGCTGCCGCTGCCGCTGCTGT	C	T63477141C	ACE	NM_000789.4(ACE):c.47_70del:p.Leu16_Pro23del	coding	Pathogenic
17	63477132	T	TGCTGCC	T63477150C	ACE	NM_000789.4(ACE):c.44CGCTGC[3]:p.15PL[3]	coding	Benign/Likely_benign
17	63479118	CCCCTCTCGGCGGTG	C	C63479123A	ACE	NM_000789.4(ACE):c.511+23_511+36del	noncoding	Benign
17	63481139	CT	C	T63481142C	ACE	NM_000789.4(ACE):c.899del:p.Phe300fs	coding	Pathogenic
17	63482637	TC	T	C63482639T	ACE	NM_000789.4(ACE):c.1292del:p.Pro431fs	coding	Pathogenic
17	63483045	CT	C	T63483047G	ACE	NM_000789.4(ACE):c.1361del:p.Leu454fs	coding	Pathogenic
17	63483064	G	GA	T63483071A	ACE	NM_000789.4(ACE):c.1384dup:p.Ile462fs	coding	Pathogenic
17	63483133	A	AC	T63483141C	ACE	NM_000789.4(ACE):c.1454dup:p.Ser486fs	coding	Pathogenic
17	63485129	A	AG	C63485133G	ACE	NM_000789.4(ACE):c.1922-104dup	noncoding	Benign
17	63490983	A	ATC	A63490987C	ACE	NM_000789.4(ACE):c.2673_2674dup:p.Tyr892fs	coding	Pathogenic
17	63496812	TG	T	G63496815C	ACE	NM_000789.4(ACE):c.3521del:p.Gly1174fs	coding	Pathogenic
17	63497005	CT	C	T63497006C	ACE	NM_000789.4(ACE):c.3691+21del	noncoding	Benign
17	63601175	A	AC	G63601181C	TACO1	NM_016360.4(TACO1):c.97dup:p.Arg33fs	coding	Pathogenic
17	63608272	TTGGGTAGCTGGCCTCTG	T	T63608277G	TACO1	NM_016360.4(TACO1):c.*275_*291del	noncoding	Benign
17	63645770	AACAGCATGTC	A	G63645778A	MAP3K3	NM_002401.5(MAP3K3):c.127-256_127-247del	noncoding	Benign
17	63710580	CA	C	A63710581T	STRADA	NM_001003787.4(STRADA):c.491del:p.Met164fs	coding	Pathogenic
17	63761335	GT	G	T63761337A	CCDC47	NM_020198.3(CCDC47):c.563del:p.Asn188fs	coding	Pathogenic
17	63833408	TGGTC	T	G63833409T	SMARCD2	NM_001098426.2(SMARCD2):c.1326_1329del:p.Thr443fs	coding	Pathogenic
17	63833907	AC	A	C63833909T	SMARCD2	NM_001098426.2(SMARCD2):c.1181+1del	noncoding	Pathogenic
17	63834168	TG	T	G63834170C	SMARCD2	NM_001098426.2(SMARCD2):c.1081del:p.Gln361fs	coding	Pathogenic
17	63835461	T	TC	T63835466C	SMARCD2	NM_001098426.2(SMARCD2):c.673dup:p.Asp225fs	coding	Pathogenic
17	63917939	CGGGCATTGGCTGTGCTGCCCGG	C	A63917944T	GH1	NM_000515.5(GH1):c.292-37_292-16del	noncoding	Pathogenic
17	63917970	ACTACAGGTCTCCCCCATC	A	T63917972C	GH1	NM_000515.5(GH1):c.291+29_291+46del	noncoding	Pathogenic
17	63918061	ACT	A	C63918064G	GH1	NM_000515.5(GH1):c.245_246del:p.Glu82fs	coding	Pathogenic
17	63918394	GAGCAT	G	A63918398G	GH1	NM_000515.5(GH1):c.118_122del:p.Met40fs	coding	Pathogenic
17	63918464	AG	A	G63918466C	GH1	NM_000515.5(GH1):c.52del:p.Leu18fs	coding	Pathogenic
17	63918868	AC	A	C63918871T	GH1	Single_allele	noncoding	Benign
17	63929758	TC	T	C63929762T	CD79B	NM_000626.4(CD79B):c.549+11del	noncoding	Benign
17	63939093	C	CAT	G63939094A	SCN4A	NM_000334.4(SCN4A):c.*1677_*1678insAT	noncoding	Benign/Likely_benign
17	63939585	T	TCTGGGCACAGCCTCTGCTCTCCAG	G63939586C	SCN4A	NM_000334.4(SCN4A):c.*1185_*1186insCTGGAGAGCAGAGGCTGTGCCCAG	noncoding	Benign
17	63942258	G	GGT	A63942296T	SCN4A	NM_000334.4(SCN4A):c.4289-301AC[19]	noncoding	Benign
17	63942258	G	GGTGTGT	A63942296T	SCN4A	NM_000334.4(SCN4A):c.4289-301AC[21]	noncoding	Benign
17	63942258	G	GGTGTGTGT	A63942296T	SCN4A	NM_000334.4(SCN4A):c.4289-301AC[22]	noncoding	Benign
17	63942258	GGTGTGTGTGT	G	T63942286A	SCN4A	NM_000334.4(SCN4A):c.4289-301AC[13]	noncoding	Benign
17	63942258	GGTGTGTGTGTGT	G	T63942284A	SCN4A	NM_000334.4(SCN4A):c.4289-301AC[12]	noncoding	Benign
17	63942258	GGTGTGTGTGTGTGT	G	T63942282A	SCN4A	NM_000334.4(SCN4A):c.4289-301AC[11]	noncoding	Benign
17	63942260	TGTGTGTGTGTGTG	T	G63942261T	SCN4A	NM_000334.4(SCN4A):c.4289-280_4289-268del	noncoding	Benign
17	63943203	CAGAGATGACAGAG	C	T63943209G	SCN4A	NM_000334.4(SCN4A):c.4018-120_4018-108del	noncoding	Benign
17	63943203	CAGAGATGACAG	C	T63943209G	SCN4A	NM_000334.4(SCN4A):c.4018-118_4018-108del	noncoding	Benign
17	63943212	CAGAG	C	G63943234A	SCN4A	NM_000334.4(SCN4A):c.4018-140CT[10]	noncoding	Benign
17	63943910	A	AC	A63943916C	SCN4A	NM_000334.4(SCN4A):c.3913-65dup	noncoding	Benign
17	63945299	A	AG	A63945302G	SCN4A	NM_000334.4(SCN4A):c.3720+59dup	noncoding	Benign
17	63947422	CG	C	G63947426A	SCN4A	NM_000334.4(SCN4A):c.3319-256del	noncoding	Benign
17	63947944	G	GC	G63947947C	SCN4A	NM_000334.4(SCN4A):c.3263dup:p.Phe1089fs	coding	Pathogenic
17	63951445	GAA	G	A63951447G	SCN4A	NM_000334.4(SCN4A):c.2830_2831del:p.Phe944fs	coding	Pathogenic
17	63951916	AG	A	G63951921A	SCN4A	NM_000334.4(SCN4A):c.2377-17del	noncoding	Benign/Likely_benign
17	63961026	AC	A	C63961035A	SCN4A	NM_000334.4(SCN4A):c.1845+166del	noncoding	Benign
17	63967933	CA	C	A63967948G	SCN4A	NM_000334.4(SCN4A):c.1036+89del	noncoding	Benign
17	63967933	C	CA	G63967949A	SCN4A	NM_000334.4(SCN4A):c.1036+75dup	noncoding	Benign
17	63971179	GT	G	T63971183G	SCN4A	NM_000334.4(SCN4A):c.685del:p.Thr229fs	coding	Pathogenic
17	63971852	TG	T	G63971859A	SCN4A	NM_000334.4(SCN4A):c.483-3del	noncoding	Benign
17	63971852	T	TG	A63971860G	SCN4A	NM_000334.4(SCN4A):c.483-3dup	noncoding	Benign
17	64478280	CATA	C	T64478285C	POLG2	NM_007215.4(POLG2):c.1293-295_1293-293del	noncoding	Benign
17	64482918	CCTGT	C	G64482921T	POLG2	NM_007215.4(POLG2):c.1188_1191del:p.Gln397fs	noncoding	Pathogenic
17	64483014	T	TG	A64483020G	POLG2	NM_007215.4(POLG2):c.1111-20dup	noncoding	Benign/Likely_benign
17	64492999	A	AT	A64493002T	POLG2	NM_007215.4(POLG2):c.584dup:p.Asn195fs	coding	Pathogenic
17	64493004	CAT	C	T64493006G	POLG2	NM_007215.4(POLG2):c.578_579del:p.Tyr193fs	coding	Pathogenic
17	64496548	CG	C	G64496551T	POLG2	NM_007215.4(POLG2):c.420del:p.Asp142fs	coding	Pathogenic/Likely_pathogenic
17	64496663	C	CA	G64496666A	POLG2	NM_007215.4(POLG2):c.305dup:p.Leu102fs	coding	Pathogenic
17	65197257	CA	C	A65197266T	RGS9	NM_003835.4(RGS9):c.976+25del	noncoding	Benign
17	65197257	C	CA	T65197267A	RGS9	NM_003835.4(RGS9):c.976+25dup	noncoding	Benign
17	65535711	CCACACAG	C	A65535715C	AXIN2	NM_004655.4(AXIN2):c.2145_2151del:p.Cys715fs	coding	Pathogenic
17	65536408	TC	T	C65536409G	AXIN2	NM_004655.4(AXIN2):c.2052del:p.Met685fs	coding	Pathogenic
17	65536421	GGT	G	T65536423A	AXIN2	NM_004655.4(AXIN2):c.2038_2039del:p.Thr680fs	coding	Pathogenic
17	65536437	C	CG	T65536444G	AXIN2	NM_004655.4(AXIN2):c.2023dup:p.Arg675fs	coding	Pathogenic
17	65536467	CC	A	C65536467A	AXIN2	NM_004655.4(AXIN2):c.1993_1994delinsT:p.Gly665fs	coding	Pathogenic
17	65536519	ACTCCAAGGGGTAGG	A	T65536521C	AXIN2	NM_004655.4(AXIN2):c.1928_1941del:p.Ala643fs	coding	Pathogenic
17	65536535	CT	C	T65536541G	AXIN2	NM_004655.4(AXIN2):c.1925del:p.Lys642fs	coding	Pathogenic
17	65536850	GGCGGCAA	G	C65536855T	AXIN2	NM_004655.4(AXIN2):c.1907+12_1907+18del	noncoding	Benign/Likely_benign
17	65536927	G	GCGACCTGTCTC	T65536940G	AXIN2	NM_004655.4(AXIN2):c.1838_1848dup:p.Gln617fs	coding	Pathogenic
17	65537051	G	GC	T65537054C	AXIN2	NM_004655.4(AXIN2):c.1724dup:p.Ser576fs	coding	Pathogenic
17	65537053	C	CT	C65537055T	AXIN2	NM_004655.4(AXIN2):c.1722dup:p.Gly575fs	coding	Pathogenic
17	65537376	TC	T	C65537377G	AXIN2	NM_004655.4(AXIN2):c.1659del:p.Lys554fs	coding	Pathogenic
17	65537393	TCGCTGCCCCCAGGGCAGAAGCAGTGCACC	T	C65537400G	AXIN2	NM_004655.4(AXIN2):c.1614_1642del:p.His540fs	coding	Pathogenic
17	65537524	GC	G	C65537526T	AXIN2	NM_004655.4(AXIN2):c.1511del:p.Gly504fs	coding	Pathogenic
17	65537557	CGAGGCGGCCGCGG	C	G65537563A	AXIN2	NM_004655.4(AXIN2):c.1466_1478del:p.Pro489fs	coding	Pathogenic
17	65537603	TG	T	G65537605T	AXIN2	NM_004655.4(AXIN2):c.1432del:p.His478fs	coding	Pathogenic
17	65537706	A	AC	A65537708C	AXIN2	NM_004655.4(AXIN2):c.1329dup:p.Ser444fs	coding	Pathogenic
17	65537918	AC	A	C65537919G	AXIN2	NM_004655.4(AXIN2):c.1201-84del	noncoding	Benign
17	65541467	TAG	T	G65541471C	AXIN2	NM_004655.4(AXIN2):c.1045_1046del:p.Leu349fs	coding	Pathogenic
17	65541540	T	TA	G65541543A	AXIN2	NM_004655.4(AXIN2):c.973dup:p.Tyr325fs	coding	Pathogenic
17	65557819	C	CA	C65557822A	AXIN2	NM_004655.4(AXIN2):c.801dup:p.Asp268Ter	coding	Pathogenic
17	65557889	CG	C	G65557890A	AXIN2	NM_004655.4(AXIN2):c.731del:p.Ser244fs	coding	Pathogenic
17	65557903	TGAAGTCGGCACAAGTCCACTCCTCTTCTTCATTCAAGGTGGGGAGATAGCCACACACGACCTTTAGGCTCCCGAGTCCCCCATTACTCATGTAAGCTGTGTTTTCTCCCCCACTCCTCACATATTCGAGGTATATATCA	T	G65557910A	AXIN2	NM_004655.4(AXIN2):c.579_717del:p.Asp194fs	coding	Pathogenic
17	65558009	TC	T	C65558014A	AXIN2	NM_004655.4(AXIN2):c.611del:p.Gly204fs	coding	Pathogenic
17	65558141	GC	G	C65558143A	AXIN2	NM_004655.4(AXIN2):c.479del:p.Gly160fs	coding	Pathogenic
17	65558297	T	TA	G65558300A	AXIN2	NM_004655.4(AXIN2):c.323dup:p.Leu108fs	coding	Pathogenic
17	65558366	TA	T	A65558368G	AXIN2	NM_004655.4(AXIN2):c.254del:p.Leu85fs	coding	Pathogenic
17	65558609	AGC	A	G65558612T	AXIN2	NM_004655.4(AXIN2):c.10_11del:p.Ala4fs	coding	Pathogenic
17	67825926	A	AG	C67825934G	BPTF	NM_182641.4(BPTF):c.209dup:p.Ser71fs	coding	Pathogenic
17	67825998	CG	C	G67826006C	BPTF	NM_182641.4(BPTF):c.282del:p.Arg95fs	coding	Pathogenic
17	67911916	CTG	C	T67911919A	BPTF	NM_182641.4(BPTF):c.4035_4036del:p.Cys1345_Glu1346delinsTer	coding	Pathogenic
17	67912352	TC	T	C67912353T	BPTF	NM_182641.4(BPTF):c.4469del:p.Ser1490fs	coding	Pathogenic
17	67913183	TG	T	G67913185A	BPTF	NM_182641.4(BPTF):c.5301del:p.Thr1766_Trp1767insTer	coding	Pathogenic
17	67922854	CAG	C	A67922857G	BPTF	NM_182641.4(BPTF):c.5575_5576del:p.Arg1859fs	coding	Pathogenic
17	67944232	CTG	C	G67944234A	BPTF	NM_182641.4(BPTF):c.6562_6563del:p.Val2188fs	coding	Pathogenic
17	67959572	AAG	A	G67959574A	BPTF	NM_182641.4(BPTF):c.7960_7961del:p.Glu2654fs	coding	Pathogenic
17	67959642	T	TCCTCCAGCC	C67959667G	BPTF	NM_182641.4(BPTF):c.8035GCCCCTCCA[3]:p.2676APP[4]	coding	Benign
17	67959642	T	TCCTCCAGCCCCTCCAGCCCCTCCAGCC	C67959667G	BPTF	NM_182641.4(BPTF):c.8035GCCCCTCCA[5]:p.2676APP[6]	coding	Benign
17	68515495	AG	A	G68515496A	PRKAR1A	NM_002734.5(PRKAR1A):c.97del:p.Asp33fs	coding	Pathogenic
17	68522639	TA	T	A68522640C	PRKAR1A	NM_002734.5(PRKAR1A):c.178-116del	noncoding	Benign
17	68522767	ACAGATTCAGAATCT	A	C68522768G	PRKAR1A	NM_002734.5(PRKAR1A):c.190_203del:p.Gln64fs	coding	Pathogenic
17	68522792	GGC	G	G68522793A	PRKAR1A	NM_002734.5(PRKAR1A):c.215_216del:p.Gly72fs	coding	Pathogenic
17	68522794	CACTCGTACAG	C	G68522799A	PRKAR1A	NM_002734.5(PRKAR1A):c.221_230del:p.Arg74fs	coding	Pathogenic
17	68522907	C	CGGCATCCTA	T68522917G	PRKAR1A	NM_002734.5(PRKAR1A):c.330_338dup:p.Tyr113Ter	coding	Pathogenic
17	68522917	TG	T	G68522918T	PRKAR1A	NM_002734.5(PRKAR1A):c.340del:p.Val114fs	coding	Pathogenic
17	68524053	GC	G	C68524054A	PRKAR1A	NM_002734.5(PRKAR1A):c.479del:p.Ala160fs	coding	Pathogenic
17	68524072	A	AGGTAAGG	C68524074G	PRKAR1A	NM_002734.5(PRKAR1A):c.498_499insGTAAGGG:p.Gln167fs	coding	Pathogenic
17	68524184	C	CT	C68524195T	PRKAR1A	NM_002734.5(PRKAR1A):c.502+117dup	noncoding	Benign
17	68524665	C	CTG	A68524667G	PRKAR1A	NM_002734.5(PRKAR1A):c.503-246_503-245insGT	noncoding	Benign
17	68524893	C	CT	A68524900T	PRKAR1A	NM_002734.5(PRKAR1A):c.503-13dup	noncoding	Benign
17	68524953	A	AC	G68524955C	PRKAR1A	NM_002734.5(PRKAR1A):c.545dup:p.Asp183fs	coding	Pathogenic
17	68525792	A	AG	A68525795G	PRKAR1A	NM_002734.5(PRKAR1A):c.590dup:p.Gly198fs	coding	Pathogenic
17	68525831	AC	A	C68525833G	PRKAR1A	NM_002734.5(PRKAR1A):c.629del:p.Pro210fs	coding	Pathogenic
17	68526045	T	TTC	T68526047C	PRKAR1A	NM_002734.5(PRKAR1A):c.708+134_708+135insCT	noncoding	Benign
17	68527826	AT	A	T68527831A	PRKAR1A	NM_002734.5(PRKAR1A):c.709-9del	noncoding	Benign
17	68527848	A	AC	T68527850C	PRKAR1A	NM_002734.5(PRKAR1A):c.718dup:p.Leu240fs	coding	Pathogenic
17	68527888	GTC	G	C68527892A	PRKAR1A	NM_002734.5(PRKAR1A):c.761_762del:p.Ser254fs	coding	Pathogenic
17	68528867	CAG	C	A68528870T	PRKAR1A	NM_002734.4(PRKAR1A):c.770_771del	noncoding	Pathogenic
17	68529951	AAAATG	A	A68529954G	PRKAR1A	NM_002734.5(PRKAR1A):c.926_930del:p.Asn309fs	coding	Pathogenic
17	68529981	TG	T	G68529985C	PRKAR1A	NM_002734.5(PRKAR1A):c.957del:p.Pro320fs	coding	Pathogenic
17	68534264	GTAGCTGTGTGATTTTAAAGGTTGCCACTAGATGGTGGGCTTTTTTTAATCTTCGTTAATCTCAAATGAGTTAACTGTTGATCCTTATCATTCATGGATTCTGTATTTGTAATTTACCTACTTGCTAAACTTTATTTGTAACCCCAAAATCAATAGTCACAGGGCTTTTGCAGACATGAGCTGGGAAGTGAAAAGTTTGAGCCTCCCAACACACATGTTCCCAACTGAGGTGGAACAAAGGGATGCTCATCTTTCATACTGTGAATAAGTGTCCTTTTCTTGGGTCTTTTTAGTGCCTTTTTTTTTTTTTTTTTTGCATTTTTGTATTTTTTTTGTTGTTGGTGATTTCACTATTAAAAGCCCCTAAGTGTAGTGATGAAGTGCTGACTAGTGTTCCTAAGTGAAAGAAGGCTGTGTTGTGCCATATGTAGAAAATATGTATATTGGATGTTTCTTTTAGGTCTGGGTTACAGTGCTGTTTGCCATGAGTACAATGTTAATGAATCAGTATATATTAAATAAAGTGTCTTAAACATGCGTTAACATAAAACACGCACACAGCAAGATTATGTATTGATCGGTCAATAAAAATGTAACTAGAGACTCCCAGCAACCTAACCCTGTATTTCCCCTAGGAGCAATGTTCAGTATTTGCCAATGCAGTGTTTGTGGTGACTTTATGGAACATAAAACTAACTCGTAAGAGAATGACTAATTTTTTTGTAATATTCAAACTCATATTGTCTTCCTGGCTTTTGAGAAGGCTAAAACGAATTCTTCCAAATGCCTCTTTCCATCAGTACAGTTCCCGTTCATTTTTTAGTTTGCTGTCAGTAGTAACTTGAAAAGTTCTCAGAGTCAAGAGACTTTTTATTTCATGGGAGGTAAACAGTTCAAAATGAACATGCTGGAAGAACTCGAGTAAGAATGAAACGGTTGGTTTTCTGATATTTTTGAGAAATGAGTCTTAATTTTGTTACTAATCAAAAAGTAATGGAAGGTTGAAAGATAAGTGAATAATAAGGTAGGTGTACCACATATCATGGTGAAATTCAAGCCTATTGCTTTCTGTTTGTAGAGTGCAGCAAAATGTGTATATAGGCCATTGGAAAACCAGTCCTTCGTTATAGGAGGTGGCGGGTTTTGAGGTAGAGCTGTAGCCTGCTTTCCTGAGAGTCTTATTTGGAAGTCCCAAACCATTTTGTGCTATTCTTTGAATGTTTTTACCCAGATATTTTCCCATTTCTGTGTGTGATCTCCTGGTTCTTCATCCACAGGGAAGAAACATCTTGAAGCAGGAGAGACAGTGAATGAAGTGGGGAGCCCTATGCTGCAGTAGGGCCACAACAGTTAAGGAAATCTTTGGGATTAAGGTTTCTCTGTTAAAGAGTTGATTTAAAAAAAAATTTTTTTTTTTTTGTATTTTTTTGTAGAGACAGGGTTTTGTCATGTTACCCAGGCTGGTCTCGAGCTCCTGAGACCAAGCGATCTGCCTGTTTAGGCCCAAAGTGCTGGGATTACAGGTGTGAGCCCATGCCCAGCTGATTTTTTTTTTAAGCAAACAAATTTGACTTCATAAATTGGGTGGGATACTGTTGGGTTTTGTGTTACAGTGAAAAGAAGACTTTGGAATAGGTCTAAACCACTAAATTGTGTGATTTTGCTTACTCTCTCTGAGATTTAAAGTTCTTCCATGCACATTGGAGGATGGGGGTTGTATCTGTGTTTGAGAGGATTGGAAACCTGTGTGTTGCTTCTGTAGCGTTGGTGAGTGCCTCACCTGGTCAGATCTCAGTGAATGGTAGTGATTTTAGAGAGACACAAAGTCCAGGGGCAGCATACCAGTCATGTGGGGGTACCACGGGGTCAGAAGTGTTATTTGTCCAGTCGAGGCTATCTTTGCTCACACTGCAGAAAGCTTGGAGACATTTCTGGTTCTTGACCTTGTACTCTCTTTAGTGACAGCTCCATTCTATTCTCATGCTTACAGTATTTGAACTCTGGCCTTTACTGGAAAAGTTGATTTGATGAAATGAGGCATTTTTACTTTTGTTGACTGACTAGTCACTCCATGGAATGAAGACCTTACTGTCCTTTGTGTTTTCGGTCATTAATTATGGAATAAGAAACAAAGCCTCCTATTAAAAGGAGTTTCAGATATCAACAAGTCAGGGAGAAGGTAGAGGAGACAAGGAATCCCTACTACACTTTCTTCTAAGGGAGGCTTCAATAAAAAACCTGACTTAGTCTTTTTTGAGCCAGCCGTCACAGGGAGGGGCATCTAGAGGGCCTCACCTTTCCACATAGCCCCTTTCTTCTTTTGGGGATGGGCCGGGGACAATCCTGGGGTCTTAGGGAAGAAGATTGTGGTTGGTGGGCTGTAGTCAGCCTTGGCTCTTTTCCTGCCTTACTCCAGGCTTGTGTCCCTGCTAGGCCTGTTCCCATGCCATCCTGACCTTGGAGGACTTTCCTTTTTTTTTCCTTCGTTGTAATTATTTATTCTGTTACTGGCTGCTTAGTGTGACATATTTGATGTTATTTCAATTGTAATACTCTTCAAATTGGAACACTCCTTTTCTGATATTCTTAGCAAATCCCTCTTTTATTTTTGCCACTTGTTATAATATCTCTAAGAAGTTACTCCAGGACCGGGCAGTAGGGATTACTGATTCAGATGGGTCCAGTGACTAGAATATGAGTAGAAAGTGTGAGGTCTAATTTGAACCTGTCAGAGTTACTGTTGCCTGCGCTGGCCCAAAGTGCAGATTTTTAGTCAGCTTGTGATAGGCCAGGTGTTTTGTCTGGACCAGGAGTTATCTTTGACTTGTAGCTAGAATAAGGATCCTGAGAAGTCAGGTATCCACTTGATGTCCTTTTATTTGACTTGTTACCATTAGTACTCTCCTGGGATCAAGGCTGCCAAGCCTGACCTATACCCAGATTTCCCAGTGCACTCAGGAGATCGTCGGTGGCCTTGATGAAGCCAGTGCTTTTTGGGAAAAACGGAGCAAGGCAACGCACGACAGAAGCGGTGCACCAAGGAGTAAAGATTCAGTTCCATGGGCCCCACTTGCTGTTTGAGAAAATGTCCTGCTTCCTTCCTAGCTGACTTGACTCCCAGCAGTAACAGGTGGGAGTGAGGACGCAGGGTCGGCACTCGAGTCGACTGCTCTGGCTCCAGGCGTATTTTCTGAAACTGGACTCTGCCAGCCCTTAGCTTGTCAAGTTAGCCTGGCCAGAGTCTGGGGCCAACTGTTCCACTGGGCCGTCGACTATGACACTCTGCTGTCCATGGGCCACTATGCACCCCTCCACTGTCCTTAGGATGGTTTGGAGCCTTCGATCCAGGGCAAGGAGGTGGGGTTCAGTGAGGACAGGGCTGAGCTGGTCTTCCAGCAGTGATTCTCGCATCACATCGCTGAGTCTGTAGTCAGCTTGGGCCAGCAGCTGCAGGTGCAAAAGTGTTTTCTTTTTTATCCTGAAAAGACAAAGTTACAGGAACCAAATAAGCAAATGTAAAGAAAATAACTTGCCTGAACTTCTTTCCCCACAAACAGCTGTTGTAGCTGATACTCTTGGCGCCTCTCCTTGTGTCTTCTCAGGCACATTTTAATGGAAACCAGGTAAAAAGGGAACAAATGAAAGGCAAAATCCAGTATCCTGCAGTCCTTTGCCCAATTGCGATTTGGTCAAGAGCCTGCATAGCCATTTGTGCTCTAATAATGGTGATGCTGGGCTATATGCATTTTCTCTGACAACGCTAAGGGAATCAAAACCAAAGTGATACTTAGGATTTTTCAAGGAGATTTAAAGCTAATGGGAGAAGTTTCTAGTAGGTGAATTGATGAGCTATTTGCTGTCTCAAAATCCCCCAGTACTGCCAGCCTTTAAGTTGTTTCTTGCTAACTTTATTTCTGTTTGTCAGATTTTAAAATCACAGAGATGAAAATGTGGTAGGACCCATCTTTAGGATTTCAGTTTCTTTTTATGTGGGAATCTGACTTGGACTCTGATGTGTAAGCAGCTTAATTGACTTTTGTCAAAAACAGGTACTGCTCATCCAGTCCTGCTCTGGAGGCAGGGAAGGGAGGCCAGAGGGAAGCATGTTTAAATTAACCTAAGACATAGATGAGGAATACTCATGCTCTACTCCGAGTTTTCCAGCTGGAAACAAATGAGATGTTTTTGCTAGGTGTGAATATCATATTTATAATTAGCTCTGCATACTGCAGCTGAGCAGGTGGTCAATTTTACAAGCCTGGCTGAAACACTGGAGAAGTGTGGAAGTAAGTTAGACATTCTCTAGAGAAATGGTGGCCAAGCAAGGGCCTTCGTGCCTTCTTCCAGTCTGCACAGGTTTACAGGACTTTAATCAGGGTTTTGCTTAGATGGTGATCAAGTAGTAATATTTATGAGCCGATATGAATGCTGGGCAAAGCAGAGGTCTGATTAGTAATATCAAAACCCAGCAGACTGCAAAAATAGGTGATTATCTGAGTGGGTCAACGATTAAAGTTGGCAATTGAAAGGTTTAAAGGATTAAATCCTAATTCATCCTATGTGGAAGGATGAAAAAGACAAAACGTTGTGGGGGAAATTTTGATAGTTGTAGTACAGTCATGAATCGCTTAGTGATGGGGATATGTTCTGAGAAATGTATCCTTAAGCGCAGGTTTTGTCACGGTGTGAACATCAGAGAGTGTACTCACACAAACCTAGATGGTGTAGCCTCCTGCACTCTTAGGCTATATGATAACTGCTTGTAGGCTACAAAACCTTTACAACACAGTGGTGGATAGCTGTGTATATAAACATAGAAAAGATAGTAAAACTGTAAAATGCAGTAAAAATACCATATTATTAATCTTATGAGACCACCGTCATATATGCAGTCTGTCATTGGCTGAGATGTCATGCAGTGCACAAATGTGTAGGAAATAAGGTGATTCATGTCATTCTACCCACTTACGTCCTGGACCAGTGAAAACTGGAAGCCCTTCAGACCTTGGCTGCAAGCAGCATGAAGGGTCACAACTGTTACTTGCCCGTATTATCTGCTGCAGGAAAACTTACATGCAGCACTGGGAGAGAGGCGAGAGGATGGAGATTTCATCATGGGAGTGTCGTCCGAACCTAGGAGGAGAAACAGGCTTTTATGGGTGGCCGGCAGCATCCTTTGCATTCCCCTGAGGCTTCCTCTCTCCTCTCAGCATTTTGTGAATCAGAGATTGGGGTAAAATGCCAGGGATCATGGCAGCTGCCTCTCCAGCCCCTCTCCCCAGTCAGATCACAAAAGCATCTGTACAGAGATGTTAGAGCTAAGCAATCCTTCATTCATTCACTAGCTGCAGAGGGCCAGCCACTGAGGATGCACCTTGCTCTCGAAAACCTCACCCTATTTCACTAGAGGGCACACGAGTGCTCTCAGGCTGGAGGAGGATCAAGTGGTTCTTGCAAAGGTAAAGAGAAAGAAGGAAATGGAAGAAGCCGGGCTCGAAGGAGACAAGGCACGTGGTGGTGGAGGCCCTCATTTGCAGGGCGTCTGTTTCCCCCGAGCAGCTGGCTGCACAGAGCAGCACATCTGGGAGAGGGGATTGTTGAACACACGTGGGGAAGCTCACCCTCTGGCGTTGTCAAGGTGAATAAGGAACCCATCATCCCCGAACTTGGTGAACATCTCATAATGGTGCCGGTCCATATTCCCTGTGAAGGAGGGGAGGACTTAGCTGGAACCAGCAGGCCAGGGGGACAGGTGCTCCTGACCTGAGTTCTCTCCAGGGAACGGAGGCCTGTCATCACTTGAGAGACAGGGGTGTGAACGAAGCTGGGCCTCACACTGTCATTTCCTCAGGGCCATCAGTGAAGCAGCCGCAGGAGGGAGAAGGAAGCGAAACAAGCAAACCCTAAATGGACTGGCTTCAAGTCTAAGGCTTTCACCCCTGCCCCTGCCCCTACTCCAGCCTTTGGCCAGAGATTTGAATGTGCAGAAAGTCATCTTTTCACCTCGTGTATGTATTGACATTGGCTTTCCTCAGCCCAGAGATCCTCAGCTGATCCTGGTTATAGTAAACAGACACAGCTAAACTTCCTGAAAGGCACGATGATGAGCCAGCTGTCTGACTTGCTTCCGACCTAAGCTCCTGTATGACGGCCACCTTCATAAGTGTCTCGTCTCCCTAGAAGTCCCTGTGGGCCTGGAAGGTGGAATTACTAGTCTTGTGTGTCCGTGGCCTCGCCTGAGGCCCTCCCTGCTACATATTTGTGTACTTTCTTCCCTTCCTACCTGGTTTCCCCTCACTTGGTGAAGTGAACATACAGCTTCCAATCTGACGCCCACTCAGGCCCGTGGCAGGGTGAGATGCCTGCCTTATGAGTGACGACCCCTTGAGCTTCTTCCAGTTCTTTGAAGAGAGGGGAGCCTGTTACCTTCTGTCCTCTGGGACCTCCGCCACTTCTGAGGCTGTGGGAGGTGCAGAGTTACTCAGTCCTCATGAACCAGGTTGTAAGTTTGTGCTCAAGGTCACGGGGAACCCTAGCCACATAGCAGAGCCCACTTCTGCTGGGGGCCTGCGTGTGGGGACCTACCTATCAAGAAGTCGAAGATGGCCATGTCGATGACATTGAGGAGCCGCTGGCTGTTGTTGTACGGGTAGATCTGTTTCACTGTGTCACAGTAAAGGGGATTGACCTCCCACCTGAGGGGGAGAAGAAGTCCTGGGGCTGGAAAAGCCAAGATGGCAGGGTGTCGGGGGTCTCCCCACACCTCCCCCTGCCCCCCCAATCCCTGCCTCCCTGATCCTGCCCTGGGCTGGTGGCAGCTTCTAAAATTCAGAAAGGCCCTGGGCAAGGACGCGTAAGGCTGCATATTCCGTGTGGTGAGAAGGTCCTGGGTCCTTTAAGTCTGGTGGACACTAAACCCATGGTTGGGATACTGTGTGCCAGAGGGGAGAGGCCGGGGCAGGCAGGAAAGGAGGAGGTAGTGACCCTCACCTGCTTCCTCGTCCCTCCACAGTCCCTCTCACCAAGCCTCTTGGACCCTGCGCCACTCATAGCACCTCCATGGGCTGTTCCTGCCCTTTCTCTCTCACACATGGTTTTCTGCCTACAATGCTCCGATGCCCATTTTCATCCGAGGGCTCTTCTCAGCCTTCACAGAGTCCCTTAGGATCTGTCATGTCCTCCAGAAATTCTGCCTGGTTACTTCTTTTCCCACGATGATCATGACGGCTTGACTGATGGATCGATTCACTCAGTCAGCTAGTGTGGAGTACCTGCTATGTGCCAGGGAGGGTGCTAGGTCCTGGGGATACAGCAGTGAGGTCCTTGGTCTCCCAGGGCTTGCTCGGGAACCAGGTGTCCCTCCCATGGGATTCTCGTGTGCTCCCTGGTTATAGCAAGTGCTGTGCTGTGTTTTCGTGATCTGGCTACATGTCTGTTCTCCCCACTAGACCAAGGAGCTTCTCAAGGAGAGAGTCTGAGTCTTCCATTTCTGTATCCCATAACACCTAGTGTTGGGTATATGGAAGGTTCTT	G	C68534268A	FAM20A	NM_001276290.1(PRKAR1A):c.973+4267_974-9286del	noncoding	Pathogenic
17	68537655	TC	T	C68537657A	FAM20A	NM_017565.4(FAM20A):c.1447del:p.Glu483fs	coding	Pathogenic
17	68537731	TC	T	C68537732T	FAM20A	NM_017565.4(FAM20A):c.1371del:p.Thr459fs	coding	Pathogenic
17	68540071	CAG	C	A68540072G	FAM20A	NM_017565.4(FAM20A):c.1220-107_1220-106del	noncoding	Benign
17	68541978	AACTC	GACCA	A68541978G	FAM20A	NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC	noncoding	Pathogenic
17	68542703	CAAAG	C	G68542707A	FAM20A	NM_017565.4(FAM20A):c.915_918del:p.Phe305fs	coding	Pathogenic
17	68551716	ATTATTATT	A	T68551717A	FAM20A	NM_017565.4(FAM20A):c.719+149_719+156del	noncoding	Benign
17	68555692	T	TG	T68555699G	FAM20A	NM_017565.4(FAM20A):c.455dup:p.Leu153fs	coding	Pathogenic
17	68600299	AGCGCCTCCTGGCTGGCCAG	A	C68600301A	FAM20A	NM_017565.4(FAM20A):c.349_367del:p.Leu117fs	coding	Pathogenic
17	68600521	CGGCCGGTGCACGGGCACCCCCGCGGGCGCTCCCGA	C	G68600527C	FAM20A	NM_017565.4(FAM20A):c.111_145del:p.Glu39fs	coding	Pathogenic
17	70131193	T	TA	C70131194A	KCNJ16	NM_170741.4(KCNJ16):c.-94+218_-94+219insA	noncoding	Benign
17	70131194	CA	C	A70131209G	KCNJ16	NM_170741.4(KCNJ16):c.-94+234del	noncoding	Benign
17	70131194	C	CA	G70131210A	KCNJ16	NM_170741.4(KCNJ16):c.-94+234dup	noncoding	Benign
17	70133493	AT	A	T70133494C	KCNJ16	NM_170741.4(KCNJ16):c.*150del	noncoding	Benign
17	70170729	ACTTGTTAGCGTTTTCCTGCTCACTTCCAAATGTTTCATTTCTATTTGCCATTATCTGGAAAAATCCTGGTGCTCAGAAGGGGTAAGAGATGTTAATTGAAGCATGGTGGAAAGGGTGAGGATAAGGTCAAGGCCATTTTACTTAGCTTCCTCCTCTCTCATATTTTAATGACACTTTATTTTTTAATGTTCTTGGTCTCCATAAGAAATATTTGATCTAAACTCATGTGAATTTTGCTTTTAAAAAAAATAAAAGAACACAGTCTTTCTACATCCTTTGGATTCCTGAGTTGTAGAATCTCTGGTTAGCTGTAGCGTCCTTGTATGACTTTTGCGTAGCCTGAAAGATTGAAAACAGCTACCTGCACAGATTAAGTGTTTCAGATTTTTTTAAGTGTATATTTTTATTTACCAAACATGTCTGTTTTTCAGCGTATGCAAATGCTGAGCAGTGCTACAAGCCAAGTGTCGTTGAGTATAAATGTTAGACAGGGGGCTCACACGTAGATAGATGGGTATCCCCCTCCCCTCCCCACTTCCCCCTCCTCCTCCCTCATGTTTATTGAGCTTCTAAGAGGCTGCTTTCCTAGCAGTTGTGCTCACATAGCAACATGTGCCCAGAGCACACTCAGGCTGTTCTATATGGCGTCAGCTGGGGAATAGCTGCTCTAAACACTCATTAGCAGACCTCTCTCTCAGCCCAGTACGTTTTCTTTTGCTATCTTTATTTCCTATCCTTAGAAACTTTCTTATTTATTGCACACCATGACCATATTACAGGACACATTTACTCTCATTTGATTTTTTTTTTTAGTTATTTATAAGCCATATTGGAAGTATTACCTATATAGTCAAAGCAATTTAGATCCCCCATTTGTACCATGTGATCTCCTTGACCTTACATTTATCCATAGCTCTTTCTCCTTTAACATCTACCTAAGTTTAAAACGCTGAACTATTTTTTTCCATTGCTTATGCTTAATTTTGGCTCAGCCTATAAATAGTCTTAACATGAACAGCACCACATGTAACCTCTCAATTTCCCAAAAATACTTTCTACATCATGGGTTATGGCCTGGATAAAAATGATTATTTGTGTCCATGAAATTTACATCTAGACCCTTAAATATTTTGGCTGGAAGGGAGATTTACACATTGTTCATCAAATCAAATTTCAATTCTCTGGATTTGTATCACTTAGTGTTCTCATCTACTCCTCATTGATTGCATCTCAAACATTATTTTGAATATATGCTTGAAATAAAGTTGCATGTAAGCCCTGTTTTTTTAATGATAGCTTTTCTCAGCTGCTCACGAATTGGTAATTGCTAGTGAGAGGACCGGGCAAGGAAGTTTTCTGCTTGCTTAAAGTCGCTCAGGCATGTGGGCAGGTTAACAGTAAAAGCAATTTTTACCATGAAATATTAAGACCGTTACCCCATCAAACCTTGACAGGTTCTAGACTTTAGCTATGTAATCAGCTCCACAAAAAGTCTGCATACATATATGTGTGTGCACCTGCATACACACATAAATCTGTTTGGGGGCATATCTATTTAAAGTGGCAAAAGTTTTCTTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAGCCCAAAACTCCTCTTTTTCTCTTTCCAGGAAGAAATGGTAAAATTTCTAAATGATGCTCCACATGTGGAACAAATTCTGTTATTAGCAATGGAAATAAGACAATAATAGTCTCTCAATACAGGCTACTTTCAAGATTCTAAATGTGGAAAGCTATTCATAGGAAGCTGGTATTGTGTGATTTGTGGAATTCAAACAAATGTCCTGGGGTCAAGATTTTTGGAAAGTCATAATTCAGTCTTTAGATTTCATATGGTTGTTATGTTTTAATCTGGAAGGAGTACAGAAATAAGTCAGAAGAAATTTGAGACTGTCTACTCATGGCCCCTAATGGTAACTCACATGGAAGGATTGTTTTGAATCATGAAAAGGGAATTTCTTGGTGTCAGCTTATAATACAAAGTTCTGAAGTCAATCAGAACTCAAAAATACAAAGCATTCATTGAATGAAGTTCTTCTCCTTTTTTTGAAACGTATACCTGCGTTTGGTGTTGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGAC	A	C70170730A	KCNJ2	NM_000891.3(KCNJ2):c.-217+1029_422del	noncoding	Pathogenic
17	70174877	G	GTC	A70174878T	KCNJ2	NM_000891.3(KCNJ2):c.-163_-162insTC	noncoding	Benign
17	70174878	A	AGAGTAGT	C70174879G	KCNJ2	NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT	noncoding	Benign
17	70175323	CATGGCTGTTTTT	C	A70175324T	KCNJ2	NM_000891.3(KCNJ2):c.285_296del:p.Trp96_Phe99del	coding	Pathogenic
17	70178027	CTTTT	C	T70178041A	KCNJ2	NM_000891.3(KCNJ2):c.*1718_*1721del	noncoding	Benign
17	72120683	GCA	G	C72120704A	SOX9	Single_allele	noncoding	Benign
17	72120683	G	GCA	A72120706C	SOX9	Single_allele	noncoding	Benign
17	72120683	G	GCGCA	A72120685G	SOX9	Single_allele	noncoding	Benign
17	72121513	C	CG	A72121516G	SOX9	NM_000346.4(SOX9):c.124dup:p.Asp42fs	coding	Pathogenic
17	72121581	AGCGAGGAGGACAAGTTCCCCGTGTGCATCC	A	A72121588C	SOX9	NM_000346.4(SOX9):c.197_226del:p.Glu66_Glu75del	coding	Pathogenic
17	72121645	ACT	A	C72121646G	SOX9	NM_000346.4(SOX9):c.255_256del:p.Asp85fs	coding	Pathogenic
17	72121781	GCA	G	C72121784A	LOC108021846;SOX9	NM_000346.4(SOX9):c.393_394del:p.His131fs	coding	Pathogenic
17	72122721	T	TTC	G72122725C	SOX9	NM_000346.4(SOX9):c.436_437dup:p.Leu146_Asn147insTer	coding	Pathogenic
17	72122882	T	TC	A72122888C	SOX9	NM_000346.4(SOX9):c.600dup:p.Asn201fs	coding	Pathogenic
17	72123563	AC	A	C72123567A	SOX9	NM_000346.4(SOX9):c.710del:p.Pro237fs	coding	Pathogenic
17	72123639	AG	A	G72123645C	SOX9	NM_000346.4(SOX9):c.788del:p.Gly263fs	coding	Pathogenic
17	72123711	A	ACATC	G72123716C	SOX9	NM_000346.4(SOX9):c.855_858dup:p.Glu287fs	coding	Pathogenic
17	72123971	GCA	G	A72123973C	SOX9	NM_000346.4(SOX9):c.1116_1117del:p.Pro374fs	coding	Pathogenic
17	72124050	AGACG	A	C72124053G	SOX9	NM_000346.4(SOX9):c.1196_1199del:p.Thr399fs	coding	Pathogenic
17	73192830	CCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	C	G73192840C	COG1	Single_allele	noncoding	Benign
17	73192832	GCGCCCGCGCCCGCCCCCGCCC	G	G73192834C	COG1	Single_allele	noncoding	Benign
17	73192856	TCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCC	T	G73192858C	COG1	Single_allele	noncoding	Benign
17	73193016	A	AGG	C73193022G	COG1	Single_allele	noncoding	Benign
17	73203616	TTC	T	C73203618T	COG1	NM_018714.3(COG1):c.2221-14_2221-13del	noncoding	Benign
17	73205960	C	CA	G73205961A	COG1	NM_018714.3(COG1):c.2511-194_2511-193insA	noncoding	Benign
17	74285101	CCAAGG	C	C74285102A	DNAI2	NM_023036.6(DNAI2):c.246_250del:p.Lys83fs	coding	Pathogenic
17	74285104	AG	A	G74285106A	DNAI2	NM_023036.6(DNAI2):c.250del:p.Asp84fs	coding	Pathogenic
17	74290687	CAG	C	A74290692T	DNAI2	NM_023036.6(DNAI2):c.611-332AG[2]	noncoding	Benign
17	74301075	CG	C	G74301076A	DNAI2	NM_023036.6(DNAI2):c.895del:p.Glu299fs	coding	Pathogenic
17	74305349	AC	A	C74305353T	DNAI2	NM_023036.6(DNAI2):c.1122del:p.Phe375fs	coding	Pathogenic
17	74305670	CT	C	T74305692G	DNAI2	NM_023036.6(DNAI2):c.1211+250del	noncoding	Benign
17	74305670	CTT	C	T74305691G	DNAI2	NM_023036.6(DNAI2):c.1211+249_1211+250del	noncoding	Benign
17	74309060	C	CAA	G74309080A	DNAI2	NM_023036.6(DNAI2):c.1212-175_1212-174dup	noncoding	Benign
17	74309298	GCCGACCGTTTTCTTTACCACCAGGATGGACGGAA	G	G74309301C	DNAI2	NM_023036.6(DNAI2):c.1260_1293del:p.Thr421fs	coding	Pathogenic
17	74310025	CG	C	G74310026A	DNAI2	NM_023036.6(DNAI2):c.1357del:p.Glu453fs	coding	Pathogenic
17	74310042	TC	T	C74310044G	DNAI2	NM_023036.6(DNAI2):c.1375del:p.Arg459fs	coding	Pathogenic
17	74310095	AC	A	C74310097A	DNAI2	NM_023036.6(DNAI2):c.1428del:p.Thr477fs	coding	Pathogenic
17	74314187	GA	G	A74314188T	DNAI2	NM_023036.6(DNAI2):c.1790del:p.Asp597fs	coding	Pathogenic
17	74852619	C	CG	C74852623G	GRIN2C	NM_000835.6(GRIN2C):c.400-11dup	noncoding	Benign
17	74919524	TC	T	C74919525T	USH1G	NM_173477.5(USH1G):c.1311del:p.Lys438fs	coding	Pathogenic/Likely_pathogenic
17	74919819	C	CA	C74919821A	USH1G	NM_173477.5(USH1G):c.1016dup:p.Ala341fs	coding	Pathogenic
17	74920052	CG	C	G74920053T	USH1G	NM_173477.5(USH1G):c.783del:p.Thr260_Tyr261insTer	coding	Pathogenic
17	74920124	GC	G	C74920127A	USH1G	NM_173477.5(USH1G):c.711del:p.Arg238fs	coding	Pathogenic
17	74920169	GC	G	C74920171G	USH1G	NM_173477.5(USH1G):c.666del:p.Arg223fs	coding	Pathogenic
17	74920448	T	TG	T74920453G	USH1G	NM_173477.5(USH1G):c.387dup:p.Lys130fs	coding	Pathogenic
17	74920579	GAC	G	A74920582C	USH1G	NM_173477.5(USH1G):c.255_256del:p.Ser86fs	coding	Pathogenic
17	74920587	GA	TT	G74920587T	USH1G	NM_173477.5(USH1G):c.248_249delinsAA:p.Phe83Ter	coding	Pathogenic
17	74951618	A	AG	T74951625G	HID1	NM_030630.3(HID1):c.2318dup:p.Val774fs	coding	Pathogenic
17	74961867	CT	C	T74961869C	HID1	NM_030630.3(HID1):c.728+5del	noncoding	Benign
17	74964617	CG	T	C74964617T	HID1	NM_030630.3(HID1):c.81_82delinsA:p.Asp28fs	coding	Pathogenic
17	75212081	T	TGC	T75212089C	NUP85	NM_024844.5(NUP85):c.361+20GC[4]	noncoding	Benign
17	75262003	CGG	C	G75262004C	MRPS7	NM_015971.4(MRPS7):c.83+21_83+22del	noncoding	Benign
17	75262004	GGC	G	C75262006G	MRPS7	NM_015971.4(MRPS7):c.83+23_83+24del	noncoding	Benign
17	75262005	GC	G	C75262006G	MRPS7	NM_015971.4(MRPS7):c.83+23del	noncoding	Benign
17	75263072	T	TA	G75263082A	MRPS7	NM_015971.4(MRPS7):c.339+214dup	noncoding	Benign
17	75273760	A	ATTATT	T75273773A	SLC25A19	NM_001126121.2(SLC25A19):c.775-131AATAA[3]	coding	Benign
17	75278419	T	TA	T75278424A	SLC25A19	NM_001126121.2(SLC25A19):c.460-88dup	noncoding	Benign
17	75288654	C	CAA	T75288673A	SLC25A19	NM_001126121.2(SLC25A19):c.-128-81_-128-80dup	noncoding	Benign
17	75288654	C	CA	T75288673A	SLC25A19	NM_001126121.2(SLC25A19):c.-128-81dup	noncoding	Benign
17	75289390	GCTCT	G	C75289395A	SLC25A19	NM_001126121.2(SLC25A19):c.-173AG[2]	noncoding	Benign/Likely_benign
17	75488123	A	AG	A75488129G	TMEM94	NM_014738.6(TMEM94):c.606dup:p.Ile203fs	coding	Pathogenic
17	75516788	G	GC	A75516793C	TSEN54	NM_207346.3(TSEN54):c.103dup:p.Gln35fs	coding	Pathogenic
17	75517334	CT	C	T75517337A	TSEN54	NM_207346.3(TSEN54):c.369+93del	noncoding	Benign
17	75521115	T	TAGTC	G75521119C	TSEN54	NM_207346.3(TSEN54):c.522-291_522-290insCAGT	noncoding	Benign
17	75521408	GCT	G	C75521411G	TSEN54	NM_207346.3(TSEN54):c.524_525del:p.Ser175fs	noncoding	Pathogenic
17	75521946	A	ACGGGAGC	T75521957G	TSEN54	NM_207346.3(TSEN54):c.869_875dup:p.Lys293fs	coding	Pathogenic
17	75728376	GCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGC	G	C75728379G	ITGB4	NM_000213.5(ITGB4):c.472_566+184del	noncoding	Pathogenic
17	75729158	CA	C	A75729175T	ITGB4	NM_000213.5(ITGB4):c.567-90del	noncoding	Benign
17	75729158	C	CA	T75729176A	ITGB4	NM_000213.5(ITGB4):c.567-90dup	noncoding	Benign
17	75730295	T	TC	A75730297C	ITGB4	NM_000213.5(ITGB4):c.794dup:p.Ala266fs	coding	Pathogenic
17	75730384	CACCT	GAACCA	C75730384G	ITGB4	NM_000213.5(ITGB4):c.882_886delinsGAACCA:p.Thr295fs	coding	Pathogenic
17	75749002	CCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAACAAATTAGCTTGGCATAGTGGTGTGCACCTGCAGTCCCAGCTATTCCGGAGACTGAGGTGGGAGGATCACTTGAGCCCAGGGGGTCTGGGCCGCAGCAAGCTGTGATCGCACCACTGCACAGCACCTGGGCCATGGAATGAGATCCTGTCCCCCAAGAAAAAATAATCTTGTTGTTTATCTGAAATTCAAATGTAACTAGGCATCCTGCATTTTATCTGGCAACCCTACAGCTAGAGAGGCTGTTGTCACCACACAATAGGAATTCTCCCATCAGACCCTGGCCCTTTGGCTTCAGCCTCAATTCCAACTAACATGCAGATGCTTGTGGAAGGAAGGAGTGGGCCAGTTAGTTCCTATCAGCCCTCAGCCTCCCAACTGGGAGAAAGCCTGCCAGGAAGATGGGAGAGGAGGGAGATACTCAGGGTACAGTGTGGAGATGGGGTGGGGAGCAAATGTTCTCATGTGGAATGTTCCCTGAGCTGCCAAGGGAGAAAGGGGCAGACCAACTCCCTCCCGCTTCTGTTCCTCCAGAGACCCTCCTGGGTCCTCCGCCAAGCTTGGCAGGATGCTCTATGTGGCAGCAATGGGGCACCACCAGGTCTCCAGAGACGCGGGTGGGCAGGTCTGAGTTGAATGCGCTGGGTAGAGCGCCCTGGGTGTTGAAGTGGGTCTCTGGCGCCCCCTGGTGGTGAAGGGGGATCTGAGTGGTTGCCCGGCCCCAACCTGACCCGTTAGATGAACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGG	C	C75749008T	ITGB4	NM_000213.5(ITGB4):c.3279_3793+180del	coding	Pathogenic
17	75750112	TGAACTGGACCG	T	A75750115G	ITGB4	NM_000213.5(ITGB4):c.3321_3331del:p.Asp1109fs	coding	Pathogenic
17	75751021	GTGACCCAGCTGAGCTGGGC	G	C75751025G	ITGB4	NM_000213.5(ITGB4):c.3707_3725del:p.Thr1236fs	coding	Pathogenic
17	75754957	C	CAT	C75754959T	ITGB4	NM_000213.5(ITGB4):c.4558+143_4558+144insTA	noncoding	Benign
17	75754961	C	CACAT	G75754962A	ITGB4	NM_000213.5(ITGB4):c.4558+146_4558+147insACAT	noncoding	Benign
17	75755607	C	CACAT	C75755608A	ITGB4	NM_000213.5(ITGB4):c.4559-94_4559-93insACAT	noncoding	Benign
17	75755715	GCT	G	C75755716G	ITGB4	NM_000213.5(ITGB4):c.4574_4575del:p.Ala1525fs	coding	Pathogenic
17	75756450	T	TC	A75756455C	ITGB4	NM_000213.5(ITGB4):c.4734dup:p.Asn1579fs	coding	Pathogenic
17	75757181	G	GC	T75757184C	ITGB4	NM_000213.5(ITGB4):c.5219-17dup	noncoding	Benign
17	75757259	TACAGCAGCATCACCACCACCC	T	G75757263C	ITGB4	NM_000213.5(ITGB4):c.5282_5302del:p.Ser1761_His1767del	coding	Benign
17	75758257	TC	T	C75758258A	GALK1	NM_000154.2(GALK1):c.1059del:p.Thr354fs	coding	Pathogenic
17	75758518	GCTGCCTGGGCCGTGCGCCGAAT	G	G75758521C	GALK1	NM_000154.2(GALK1):c.853_874del:p.Ile285fs	coding	Pathogenic/Likely_pathogenic
17	75762727	T	TCC	G75762731C	GALK1	NM_000154.2(GALK1):c.768_769dup:p.Glu257fs	coding	Pathogenic
17	75762957	TC	T	C75762960A	GALK1	NM_000154.2(GALK1):c.611+56del	noncoding	Benign
17	75763430	AG	A	G75763436C	GALK1	NM_000154.2(GALK1):c.364del:p.Leu122fs	coding	Pathogenic
17	75764974	T	TA	G75764976A	GALK1	NM_000154.2(GALK1):c.162dup:p.Met55fs	coding	Pathogenic
17	75765130	CA	C	A75765131G	GALK1	NM_000154.2(GALK1):c.6del:p.Ala3fs	coding	Pathogenic
17	75828931	CG	C	G75828933T	UNC13D	NM_199242.3(UNC13D):c.3006del:p.Val1003fs	coding	Pathogenic
17	75833031	CA	C	A75833032G	UNC13D	NM_199242.3(UNC13D):c.2381del:p.Leu794fs	coding	Pathogenic
17	75834364	G	GT	C75834365T	UNC13D	NM_199242.3(UNC13D):c.2258_2259insA:p.His754fs	coding	Pathogenic
17	75834671	G	GC	G75834672C	UNC13D	NM_199242.3(UNC13D):c.2037_2038insG:p.Arg680fs	coding	Pathogenic
17	75836901	C	CT	G75836903T	UNC13D	NM_199242.3(UNC13D):c.1072dup:p.Ser358fs	coding	Pathogenic
17	75837006	C	CCCTCCTCCAGGGCCCCTGGTGGAGAA	A75837009T	UNC13D	NM_199242.3(UNC13D):c.1056-89_1056-88insGGTTCTCCACCAGGGGCCCTGGAGGA	noncoding	Benign
17	75839928	G	GATGATAGGATGTTTCATGTGGTGTATGCATGA	G75839929A	UNC13D	NM_199242.3(UNC13D):c.965_966insTCATGCATACACCACATGAAACATCCTATCAT:p.Ser322_Trp323insHisAlaTyrThrThrTer	coding	Pathogenic
17	75840109	CT	C	T75840110C	UNC13D	NM_199242.3(UNC13D):c.859del:p.Arg287fs	coding	Pathogenic
17	75840320	AG	A	G75840321C	UNC13D	NM_199242.3(UNC13D):c.762del:p.Cys255fs	coding	Pathogenic
17	75843241	AGT	A	T75843243C	UNC13D	NM_199242.3(UNC13D):c.177_178del:p.Tyr61fs	coding	Pathogenic
17	75844255	T	TAGAG	C75844256A	UNC13D	NM_199242.3(UNC13D):c.82_83insCTCT:p.Asp28fs	coding	Pathogenic
17	75949237	TCTGA	T	C75949242T	ACOX1	NM_004035.7(ACOX1):c.1704_1707del:p.Ser568fs	coding	Pathogenic
17	75949883	CT	C	T75949887C	ACOX1	NM_004035.7(ACOX1):c.1312del:p.Ser438fs	coding	Pathogenic
17	75950952	TG	T	G75950953A	ACOX1	NM_004035.7(ACOX1):c.1119del:p.Thr374fs	coding	Pathogenic
17	75953512	TAGAC	T	C75953516G	ACOX1	NM_004035.7(ACOX1):c.879_882del:p.Ser294fs	coding	Pathogenic
17	75960368	GCACAAAAC	T	G75960368T	ACOX1	NM_004035.7(ACOX1):c.270-1_277delinsA	coding	Pathogenic
17	75978722	GCAGA	G	G75978729C	ACOX1	NM_004035.7(ACOX1):c.110-33_110-30del	noncoding	Benign
17	76138237	A	AG	A76138245G	FOXJ1	NM_001454.4(FOXJ1):c.499-124dup	noncoding	Benign
17	76477511	A	AG	C76477513G	RHBDF2	NM_001005498.4(RHBDF2):c.801+145dup	noncoding	Benign
17	76540523	TGGGGCAGCTA	T	T76540532A	PRCD	NM_001077620.3(PRCD):c.102_111del:p.Arg35fs	coding	Pathogenic
17	76733041	T	TCA	G76733044C	METTL23	NM_001080510.5(METTL23):c.149_150dup:p.Asp51fs	coding	Pathogenic
17	77487592	TGCCTTCCTG	T	C77487594A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1042+42_1042+50del	noncoding	Benign
17	77488118	TC	T	C77488121G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1043-119del	noncoding	Benign
17	77489054	CA	C	A77489056G	SEPTIN9	NM_001113491.2(SEPTIN9):c.1262+192del	noncoding	Benign
17	77493200	C	CA	G77493202A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1573+125dup	noncoding	Benign
17	77497069	A	AGAGCAGGAGCTGAGCTGTCCAG	G77497104A	SEPTIN9	NM_001113491.2(SEPTIN9):c.1574-233_1574-212dup	noncoding	Benign
17	78117879	CAT	C	A78117880G	TMC6	NM_001127198.5(TMC6):c.1942_1943del:p.Met648fs	coding	Pathogenic
17	78119397	CT	C	T78119398C	TMC6	NM_001127198.5(TMC6):c.1716-6del	noncoding	Benign
17	78120584	CTCCCGGCCACACG	C	A78120595T	TMC6	NM_001127198.5(TMC6):c.1715+56_1715+68del	noncoding	Benign
17	78121539	TC	T	C78121545A	TMC6	NM_001127198.5(TMC6):c.1383+16del	noncoding	Benign
17	78121820	AAC	A	A78121821C	TMC6	NM_001127198.5(TMC6):c.1228-111_1228-110del	noncoding	Benign
17	78122685	C	CG	T78122688G	TMC6	NM_001127198.5(TMC6):c.1146dup:p.Val383fs	coding	Pathogenic
17	78124699	CCCCCG	C	C78124700A	TMC6	NM_001127198.5(TMC6):c.711_715del:p.Ile237fs	coding	Pathogenic
17	78126665	C	CG	T78126673G	TMC6	NM_001127198.5(TMC6):c.57-18dup	noncoding	Benign
17	78131681	C	CT	C78131683T	TMC8	NM_152468.5(TMC8):c.94dup:p.Ser32fs	coding	Pathogenic
17	78131768	T	TG	T78131777G	TMC8	NM_152468.5(TMC8):c.149+39dup	noncoding	Benign
17	78131861	CCT	C	C78131862G	TMC8	NM_152468.5(TMC8):c.150-20_150-19del	noncoding	Benign
17	78133532	ACT	A	C78133535G	TMC8	NM_152468.5(TMC8):c.661_662del:p.Leu221fs	coding	Pathogenic
17	78134473	AC	A	C78134475T	TMC8	NM_152468.5(TMC8):c.898del:p.Leu300fs	coding	Pathogenic
17	78141333	GTTT	G	T78141337A	TMC8	NM_152468.5(TMC8):c.*225_*227del	noncoding	Benign
17	78425144	T	TG	C78425146G	DNAH17	NM_173628.4(DNAH17):c.13141+201dup	noncoding	Benign
17	78425279	TTTATC	T	A78425282G	DNAH17	NM_173628.4(DNAH17):c.13141+62_13141+66del	noncoding	Benign
17	78425756	CTTTTTT	C	T78425778G	DNAH17	NM_173628.4(DNAH17):c.12916-191_12916-186del	noncoding	Benign
17	78425756	CTTTTTTT	C	T78425777G	DNAH17	NM_173628.4(DNAH17):c.12916-192_12916-186del	noncoding	Benign
17	78425756	CTTTTTTTTTTTT	C	T78425772G	DNAH17	NM_173628.4(DNAH17):c.12916-197_12916-186del	noncoding	Benign
17	78426235	G	GCT	G78426240C	DNAH17	NM_173628.4(DNAH17):c.12915+218AG[3]	noncoding	Benign
17	78428923	TTAAAAAA	T	T78428924A	DNAH17	NM_173628.4(DNAH17):c.12405+191_12405+197del	noncoding	Benign
17	78428923	TTAAAA	T	T78428924A	DNAH17	NM_173628.4(DNAH17):c.12405+193_12405+197del	noncoding	Benign
17	78433915	GGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAGGGAA	G	A78433923G	DNAH17	NM_173628.4(DNAH17):c.12225+78_12225+113del	noncoding	Benign
17	78437397	CTA	C	A78437399G	DNAH17	NM_173628.4(DNAH17):c.12033+242_12033+243del	noncoding	Benign
17	78449645	CGCCACCACTCCCT	C	A78449652T	DNAH17	NM_173628.4(DNAH17):c.11041-74_11041-62del	noncoding	Benign
17	78454914	G	GT	C78454925T	DNAH17	NM_173628.4(DNAH17):c.10171-219dup	noncoding	Benign
17	78485764	C	CAGGGGAGGGA	G78485785A	DNAH17	NM_173628.4(DNAH17):c.7276-27TCCCTCCCCT[3]	noncoding	Benign
17	78490540	G	GGTCT	C78490545G	DNAH17	NM_173628.4(DNAH17):c.6818+155_6818+158dup	noncoding	Benign
17	78494380	GC	G	C78494387A	DNAH17	NM_173628.4(DNAH17):c.6271-208del	noncoding	Benign
17	78499317	G	GC	A78499320C	DNAH17	NM_173628.4(DNAH17):c.5641-207dup	coding	Benign
17	78503105	CTCA	C	A78503111C	DNAH17	NM_173628.4(DNAH17):c.4957-97_4957-95del	noncoding	Benign
17	78525298	T	TC	A78525302C	DNAH17	NM_173628.4(DNAH17):c.3712-140dup	noncoding	Benign
17	78530556	TA	T	A78530557G	DNAH17	NM_173628.4(DNAH17):c.3115-45del	noncoding	Benign
17	78530594	TCCTGCACTGCA	T	A78530600G	DNAH17	NM_173628.4(DNAH17):c.3115-93_3115-83del	noncoding	Benign
17	78537187	A	AAAAAG	G78537191A	DNAH17	NM_173628.4(DNAH17):c.2859+111_2859+112insTTTCT	noncoding	Benign
17	78537187	A	AAAAG	A78537195G	DNAH17	NM_173628.4(DNAH17):c.2859+108_2859+111dup	noncoding	Benign
17	78537188	A	AAAGG	A78537192G	DNAH17	NM_173628.4(DNAH17):c.2859+110_2859+111insCTTC	noncoding	Benign
17	78552512	C	CT	G78552530T	DNAH17	NM_173628.4(DNAH17):c.2287+168dup	noncoding	Benign
17	78552512	CT	C	T78552529G	DNAH17	NM_173628.4(DNAH17):c.2287+184del	noncoding	Benign
17	78552512	CTT	C	T78552528G	DNAH17	NM_173628.4(DNAH17):c.2287+183_2287+184del	noncoding	Benign
17	78552512	CTTT	C	T78552527G	DNAH17	NM_173628.4(DNAH17):c.2287+182_2287+184del	noncoding	Benign
17	78558036	CACAA	C	A78558043T	DNAH17	NM_173628.4(DNAH17):c.2178+68_2178+71del	noncoding	Benign
17	78558447	C	CTGACATCACCCTCATGGGTGGA	T78558544C	DNAH17	NM_173628.4(DNAH17):c.2032-281TCCACCCATGAGGGTGATGTCA[5]	noncoding	Benign
17	78570881	AAAAAG	A	A78570900C	DNAH17	NM_173628.4(DNAH17):c.918+47CTTTT[3]	noncoding	Benign
17	78570886	G	GAA	G78570891A	DNAH17	NM_173628.4(DNAH17):c.918+58_918+59dup	noncoding	Benign
17	78997394	A	AG	T78997396G	CANT1	NM_001159773.2(CANT1):c.228dup:p.Trp77fs	coding	Pathogenic/Likely_pathogenic
17	78997551	G	GC	A78997558C	CANT1	NM_001159773.2(CANT1):c.71dup:p.Leu25fs	coding	Pathogenic
17	79097685	C	CT	A79097690T	RBFOX3	NM_001350451.2(RBFOX3):c.622+3dup	noncoding	Benign
17	79778326	GC	G	C79778332G	CBX2	NM_005189.3(CBX2):c.72+25del	noncoding	Benign
17	79779446	C	CTG	G79779449T	CBX2	NM_005189.3(CBX2):c.182+20_182+21dup	noncoding	Benign
17	80040109	AGT	A	G80040112T	CCDC40	NM_017950.4(CCDC40):c.394_395del:p.Ser131_Val132insTer	coding	Pathogenic
17	80048682	CAG	C	A80048689T	CCDC40	NM_017950.4(CCDC40):c.783_784del:p.Arg261fs	coding	Pathogenic
17	80048700	AG	A	G80048704A	CCDC40	NM_017950.4(CCDC40):c.798del:p.Ser267fs	coding	Pathogenic
17	80058566	T	TG	C80058568G	CCDC40	NM_017950.4(CCDC40):c.1233dup:p.Arg412fs	coding	Pathogenic
17	80081387	A	AAAATAAATAAATAAATAAATAAAT	G80081414A	CCDC40	NM_017950.4(CCDC40):c.1563-158AAAT[12]	noncoding	Benign
17	80081387	A	AAAATAAATAAATAAATAAAT	G80081414A	CCDC40	NM_017950.4(CCDC40):c.1563-158AAAT[11]	noncoding	Benign
17	80081387	A	AAAATAAATAAATAAAT	G80081414A	CCDC40	NM_017950.4(CCDC40):c.1563-158AAAT[10]	noncoding	Benign
17	80081387	A	AAAATAAATAAAT	G80081414A	CCDC40	NM_017950.4(CCDC40):c.1563-158AAAT[9]	noncoding	Benign
17	80081561	AG	A	G80081562C	CCDC40	NM_017950.4(CCDC40):c.1579del:p.Ala527fs	coding	Pathogenic
17	80086173	GA	G	A80086175G	CCDC40	NM_017950.4(CCDC40):c.2408del:p.Lys803fs	coding	Pathogenic
17	80087415	CCCTGT	C	G80087419C	CCDC40	NM_017950.4(CCDC40):c.2450-188_2450-184del	noncoding	Benign
17	80089508	TTCTC	T	C80089518G	CCDC40	NM_017950.4(CCDC40):c.2712-255TC[4]	noncoding	Benign
17	80090417	CAGCACGTGCATGAACAACACAGGACACACACA	C	A80090462T	CCDC40	NM_017950.4(CCDC40):c.2832+578_2832+609del	coding	Benign
17	80104589	GG	TT	G80104589T	GAA	NM_000152.5(GAA):c.3_4delinsTT:p.Met1_Gly2delinsIleTer	coding	Pathogenic
17	80104614	CA	C	A80104615C	GAA	NM_000152.5(GAA):c.29del:p.His10fs	coding	Pathogenic
17	80104782	CG	C	G80104785A	GAA	NM_000152.5(GAA):c.199del:p.Asp67fs	coding	Pathogenic
17	80104867	CT	C	T80104868G	GAA	NM_000152.5(GAA):c.282del:p.Asp95fs	coding	Pathogenic
17	80104926	A	AT	A80104927T	GAA	NM_000152.5(GAA):c.340_341insT:p.Lys114fs	coding	Pathogenic
17	80105022	AT	A	T80105023G	GAA	NM_000152.5(GAA):c.437del:p.Met146fs	coding	Pathogenic
17	80105041	T	TGA	C80105044G	GAA	NM_000152.5(GAA):c.456_457dup:p.Thr153fs	coding	Pathogenic
17	80105096	CG	C	G80105097T	GAA	NM_000152.5(GAA):c.511del:p.Asp170_Val171insTer	coding	Pathogenic
17	80105111	TGA	T	G80105114A	GAA	NM_000152.5(GAA):c.528_529del:p.Asn177fs	coding	Pathogenic
17	80105840	TC	T	C80105841T	GAA	NM_000152.5(GAA):c.639del:p.Ser214fs	coding	Pathogenic
17	80105856	C	CG	T80105861G	GAA	NM_000152.5(GAA):c.658dup:p.Val220fs	coding	Pathogenic
17	80105883	C	CG	C80105886G	GAA	NM_000152.5(GAA):c.683dup:p.Arg229fs	coding	Pathogenic
17	80107621	CCCTCG	C	C80107623A	GAA	NM_000152.5(GAA):c.759_763del:p.Ser254fs	coding	Pathogenic
17	80107628	AGTATATCACAGGCCTCGCC	A	T80107630A	GAA	NM_000152.5(GAA):c.766_784del:p.Tyr256fs	coding	Pathogenic
17	80107629	GTATAT	G	T80107630C	GAA	NM_000152.5(GAA):c.766_770del:p.Tyr256fs	coding	Pathogenic
17	80107727	AGCGGCGG	A	C80107739G	GAA	NM_000152.5(GAA):c.858+17_858+23del	noncoding	Benign/Likely_benign
17	80108390	GC	G	C80108391A	GAA	NM_000152.5(GAA):c.1057del:p.Gln353fs	coding	Pathogenic
17	80108492	A	AC	G80108496C	GAA	NM_000152.5(GAA):c.1082dup:p.Phe362fs	coding	Pathogenic
17	80108502	GC	G	C80108504G	GAA	NM_000152.5(GAA):c.1091del:p.Pro364fs	coding	Pathogenic
17	80108542	GG	C	G80108542C	GAA	NM_000152.5(GAA):c.1129_1130delinsC:p.Gly377fs	coding	Pathogenic
17	80108614	TG	T	G80108618T	GAA	NM_000152.5(GAA):c.1194+11del	noncoding	Benign
17	80108676	GGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATAGAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATGCAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAAAAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCCTGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTTCTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGAGGTTTAAAGAAAAGGTAAAGGTAAAGCTTCCATTCCGGCGCGCCCCTCATCAGCCAGCTGGTCCTGACTCGCCCGGCCCTGGCTCCTCTCCAGGCAGGCGTGTGCAGGCATGTGCAGGTACACAGGCAGGCATGCTGTACACACGCATGATGTCATCCCCAGCCTCATCCTCTCACTGTCTCAGTTTTCCCCGTGGCTGGCGCCAGGGCTCTGGGCCACCCTCACCTTGACAGGTTTCCCTCTTCCCAGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGGTCCTCCTTGTCCTCCCAGCCCCCCAGGGGCCTCCAGGCAGGGCCCCCGCTGAGGGAGCAGCTAGGGAGGGTCTGGTGCGGATGTGAGGCTGCCTGGCAGGGCTTGCACGGGGCCGTCTCCGCTGCCCTTCTCCCTGACGCTCTCTGGTTCTGCAGCCCAGCCCCTGGGTGGACGTGTTGGGGGTGACCCCTCGTTTTCCCAGGGTTGAGGCCCCTTGGCCCCGCATCAGTGCCTTGTGGAGAAAGAGCTGCTCATTGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGT	G	T80108678C	GAA	NM_000152.5(GAA):c.1195-19_2190-17del	noncoding	Pathogenic
17	80108800	AGGG	TCCTGCACCATGGC	A80108800T	GAA	NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC:p.Gln433fs	coding	Pathogenic
17	80108808	CG	C	G80108810C	GAA	NM_000152.5(GAA):c.1308del:p.Arg437fs	coding	Pathogenic
17	80109623	AC	A	C80109624T	GAA	NM_000152.5(GAA):c.1327-321del	noncoding	Benign
17	80109624	CT	C	T80109630C	GAA	NM_000152.5(GAA):c.1327-315del	noncoding	Benign
17	80109705	AAAAGGT	A	G80109716C	GAA	NM_000152.5(GAA):c.1327-229_1327-224del	noncoding	Benign
17	80109953	C	CA	T80109955A	GAA	NM_000152.5(GAA):c.1336dup:p.Ile446fs	coding	Pathogenic
17	80109992	CG	TA	C80109992T	GAA	NM_000152.5(GAA):c.1374_1375delinsTA:p.Asp459Asn	coding	Pathogenic
17	80109993	GAC	G	A80109994G	GAA	NM_000152.5(GAA):c.1376_1377del:p.Asp459fs	coding	Pathogenic
17	80110945	T	TGAACG	A80110951G	GAA	NM_000152.5(GAA):c.1557_1561dup:p.Glu521fs	coding	Pathogenic
17	80110946	GA	G	A80110948C	GAA	NM_000152.5(GAA):c.1559del:p.Asn520fs	coding	Pathogenic
17	80110963	T	TC	A80110965C	GAA	NM_000152.5(GAA):c.1575dup:p.Ile526fs	coding	Pathogenic
17	80110967	CAG	C	A80110968G	GAA	NM_000152.5(GAA):c.1579_1580del:p.Arg527fs	coding	Pathogenic
17	80110998	GA	G	A80110999G	GAA	NM_000152.5(GAA):c.1610del:p.Glu537fs	coding	Pathogenic
17	80111141	GC	G	C80111142G	GAA	NM_000152.5(GAA):c.1636+117del	noncoding	Benign
17	80111483	TGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTAC	T	A80111485T	GAA	NM_000152.5(GAA):c.1636+460_2672del	noncoding	Pathogenic
17	80111990	TG	T	G80111996A	GAA	NM_000152.5(GAA):c.1650del:p.Thr551fs	coding	Pathogenic
17	80112017	CTG	C	T80112020C	GAA	NM_000152.5(GAA):c.1674_1675del:p.Ala559fs	coding	Pathogenic
17	80112049	A	AC	T80112051C	GAA	NM_000152.5(GAA):c.1704dup:p.Tyr569fs	coding	Pathogenic
17	80112050	C	CT	A80112052T	GAA	NM_000152.5(GAA):c.1705dup:p.Tyr569fs	coding	Pathogenic
17	80112110	ACG	A	C80112111T	GAA	NM_000152.5(GAA):c.1754+11_1754+12del	noncoding	Pathogenic
17	80112629	CT	C	T80112632G	GAA	NM_000152.5(GAA):c.1809del:p.Phe603fs	coding	Pathogenic
17	80112664	C	CG	A80112670G	GAA	NM_000152.5(GAA):c.1846dup:p.Asp616fs	coding	Pathogenic
17	80112664	CG	C	G80112669A	GAA	NM_000152.5(GAA):c.1846del:p.Asp616fs	coding	Pathogenic
17	80112670	A	AC	G80112672C	GAA	NM_000152.5(GAA):c.1848dup:p.Val617fs	coding	Pathogenic
17	80112676	G	GAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA	G80112677A	GAA	NM_000152.5(GAA):c.1853_1854insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA:p.Trp618Ter	coding	Pathogenic
17	80112915	G	GGGCCGAC	T80112924G	GAA	NM_000152.5(GAA):c.1930_1936dup:p.Val646fs	coding	Pathogenic
17	80112956	CTG	C	T80112963C	GAA	NM_000152.5(GAA):c.1976_1977del:p.Val659fs	coding	Pathogenic
17	80112971	AC	A	C80112974A	GAA	NM_000152.5(GAA):c.1987del:p.Gln663fs	coding	Pathogenic
17	80113007	CACA	C	A80113011G	GAA	NM_000152.5(GAA):c.2021ACA[1]:p.Asn675del	coding	Pathogenic/Likely_pathogenic
17	80113269	G	GC	T80113273C	GAA	NM_000152.5(GAA):c.2095dup:p.Leu699fs	coding	Pathogenic
17	80113311	CTG	C	G80113313T	GAA	NM_000152.5(GAA):c.2136_2137del:p.Phe713fs	coding	Pathogenic
17	80113342	C	CCTGCGA	G80113344T	GAA	NM_000152.5(GAA):c.2166_2167insTGCGAC:p.Thr722_Val723insCysAsp	coding	Pathogenic
17	80113347	GC	G	C80113350G	GAA	NM_000152.5(GAA):c.2173del:p.Arg725fs	coding	Pathogenic
17	80117035	A	AC	A80117040C	GAA	NM_000152.5(GAA):c.2261dup:p.Val755fs	coding	Pathogenic
17	80117058	G	GA	G80117059A	GAA	NM_000152.5(GAA):c.2280_2281insA:p.Ala761fs	coding	Pathogenic
17	80117076	CT	C	T80117078C	GAA	NM_000152.5(GAA):c.2300del:p.Phe767fs	coding	Pathogenic
17	80117088	CACATGGTACG	C	A80117091C	GAA	NM_000152.5(GAA):c.2313_2322del:p.Trp772fs	coding	Pathogenic
17	80117644	TC	T	C80117648G	GAA	NM_000152.5(GAA):c.2380del:p.Arg794fs	coding	Pathogenic
17	80117652	AG	A	G80117653C	GAA	NM_000152.5(GAA):c.2385del:p.Glu795fs	coding	Pathogenic
17	80117672	GGGCAGTGGGTGACGCTGCC	G	A80117676C	GAA	NM_000152.5(GAA):c.2408_2426del:p.Gln803fs	coding	Pathogenic
17	80117693	GC	G	C80117699T	GAA	NM_000152.5(GAA):c.2431del:p.Leu811fs	coding	Pathogenic
17	80117693	G	GC	T80117700C	GAA	NM_000152.5(GAA):c.2431dup:p.Leu811fs	coding	Pathogenic
17	80117737	CAT	C	A80117738C	GAA	NM_000152.5(GAA):c.2470_2471del:p.Ile824fs	coding	Pathogenic
17	80117858	G	GGCTCGGGGTTGAGAAGGGGTGAGGGGA	C80117859G	GAA	NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGA	noncoding	Pathogenic
17	80117858	G	GGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGT	C80117859G	GAA	NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGT	noncoding	Pathogenic
17	80118203	TCA	T	C80118206A	GAA	NM_000152.5(GAA):c.2495_2496del:p.Thr832fs	coding	Pathogenic/Likely_pathogenic
17	80118711	AG	A	G80118712A	GAA	NM_000152.5(GAA):c.2706del:p.Lys903fs	coding	Pathogenic
17	80118742	G	GC	A80118747C	GAA	NM_000152.5(GAA):c.2740dup:p.Gln914fs	coding	Pathogenic
17	80119469	C	CG	C80119471G	GAA	NM_000152.5(GAA):c.*139dup	noncoding	Benign/Likely_benign
17	80183761	TGCCCACATGCTCACCC	T	C80183793T	CARD14	NM_001366385.1(CARD14):c.350-120_350-105del	noncoding	Benign
17	80183969	CAGG	C	G80183975C	CARD14	NM_001366385.1(CARD14):c.409GAG[1]:p.Glu138del	coding	Pathogenic
17	80190612	CAAA	C	A80190627G	CARD14	NM_001366385.1(CARD14):c.964-147_964-145del	noncoding	Benign
17	80190612	CA	C	A80190629G	CARD14	NM_001366385.1(CARD14):c.964-145del	noncoding	Benign
17	80192635	CCG	C	G80192637C	CARD14	NM_001366385.1(CARD14):c.1356+18_1356+19del	noncoding	Benign
17	80195852	GC	G	C80195853T	CARD14	NM_001366385.1(CARD14):c.1594+201del	noncoding	Benign
17	80202008	TC	T	C80202012A	CARD14	NM_001366385.1(CARD14):c.1978+142del	noncoding	Benign
17	80204627	GA	G	A80204639T	CARD14	NM_001366385.1(CARD14):c.2398+298del	noncoding	Benign
17	80210534	TG	T	G80210537T	SGSH	NM_000199.5(SGSH):c.1426del:p.His476fs	coding	Pathogenic
17	80210615	TG	T	G80210618T	SGSH	NM_000199.5(SGSH):c.1345del:p.Gln449fs	coding	Pathogenic
17	80210718	T	TGC	G80210722C	SGSH	NM_000199.5(SGSH):c.1241_1242dup:p.Thr415fs	coding	Pathogenic
17	80210857	GTGGTGGCTCTGGC	G	G80210860C	SGSH	NM_000199.5(SGSH):c.1091_1103del:p.Ser364fs	coding	Pathogenic
17	80212110	GT	G	T80212114G	SGSH	NM_000199.5(SGSH):c.909del:p.Lys303fs	coding	Pathogenic
17	80212262	AC	A	C80212264A	SGSH	NM_000199.5(SGSH):c.757del:p.Val253fs	coding	Pathogenic
17	80213843	GGTCGGCTCGGGCT	G	T80213845C	SGSH	NM_000199.5(SGSH):c.693_705del:p.Ala232fs	coding	Pathogenic
17	80213922	CAG	C	G80213924C	SGSH	NM_000199.5(SGSH):c.664-39_664-38del	noncoding	Benign/Likely_benign
17	80214192	AG	A	G80214194C	SGSH	NM_000199.5(SGSH):c.642del:p.Tyr215fs	coding	Pathogenic
17	80214197	T	TG	T80214204G	SGSH	NM_000199.5(SGSH):c.637dup:p.Gln213fs	coding	Pathogenic
17	80214657	ATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTC	A	A80214662G	SGSH	NM_000199.5(SGSH):c.250-289_463del	coding	Pathogenic
17	80214722	CG	C	G80214725T	SGSH	NM_000199.5(SGSH):c.398del:p.Pro133fs	coding	Pathogenic
17	80215104	A	ACG	T80215107C	SGSH	NM_000199.5(SGSH):c.282_283dup:p.Val95fs	coding	Pathogenic
17	80215118	CCCGTA	C	C80215120A	SGSH	NM_000199.5(SGSH):c.265_269del:p.Tyr89fs	coding	Pathogenic/Likely_pathogenic
17	80220722	CTCCG	C	T80220723G	SGSH	NM_001166347.2(SLC26A11):c.-213-193_-213-190del	noncoding	Benign
17	80220728	AGAC	A	G80220729C	SGSH	NM_001166347.2(SLC26A11):c.-213-187_-213-185del	noncoding	Benign
17	80351664	CT	C	T80351674C	RNF213	NM_001256071.3(RNF213):c.10185-11del	noncoding	Benign
17	80367974	CCGT	GGGTTAG	C80367974G	RNF213	NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG:p.Pro3996_Cys3997delinsGlyLeuGly	coding	Pathogenic
17	81704228	TGGG	T	G81704231T	MRPL12	NM_002949.4(MRPL12):c.75-13_75-11del	noncoding	Benign
17	81707271	T	TC	T81707274C	MRPL12	NM_002949.4(MRPL12):c.*33dup	noncoding	Benign
17	81809889	GC	G	C81809895A	GCGR	NM_000160.5(GCGR):c.163+11del	noncoding	Benign
17	81844251	CAG	C	A81844252G	P4HB	NM_000918.4(P4HB):c.1447-161_1447-160del	noncoding	Benign
17	81846412	C	CG	A81846417G	P4HB	NM_000918.4(P4HB):c.1056+16dup	noncoding	Benign
17	81854885	G	GA	G81854900A	P4HB	NM_000918.4(P4HB):c.624+243dup	noncoding	Benign
17	81859402	GA	G	A81859403G	P4HB	NM_000918.4(P4HB):c.146-16del	noncoding	Benign
17	81934320	GCCCA	G	C81934323G	PYCR1	NM_006907.4(PYCR1):c.797+2_797+5del	noncoding	Pathogenic
17	81936230	A	AT	G81936244T	PYCR1	NM_006907.4(PYCR1):c.68-50dup	noncoding	Benign
17	82032784	CAGG	C	G82032789C	RAC3	NM_005052.3(RAC3):c.183GGA[1]:p.Glu62del	coding	Pathogenic
17	82081999	TG	T	G82082003C	FASN	NM_004104.5(FASN):c.6163+9del	noncoding	Benign
17	82092678	CG	C	G82092690C	FASN	NM_004104.5(FASN):c.894+18del	noncoding	Benign
17	82092678	CGG	C	G82092689C	FASN	NM_004104.5(FASN):c.894+17_894+18del	noncoding	Benign
17	82092678	CGGG	C	G82092688C	FASN	NM_004104.5(FASN):c.894+16_894+18del	noncoding	Benign
17	82447565	CG	C	G82447571T	CYBC1	NM_001033046.4(CYBC1):c.127+14del	noncoding	Benign
17	82752160	CG	C	G82752161T	TBCD	NM_005993.5(TBCD):c.-33del	noncoding	Benign
17	82766384	T	TC	T82766391C	TBCD	NM_005993.5(TBCD):c.435+22dup	noncoding	Benign
17	82797739	C	CT	A82797755T	TBCD	NM_005993.5(TBCD):c.772-3dup	noncoding	Benign
17	82829995	TTTTG	T	G82830015T	ZNF750	NM_024702.3(ZNF750):c.*127CAAA[4]	coding	Benign
17	82920536	C	CT	C82920552T	TBCD	NM_005993.5(TBCD):c.2039-5dup	noncoding	Benign
17	82920791	ACC	A	C82920793A	TBCD	NM_005993.5(TBCD):c.2101+175_2101+176del	noncoding	Benign
17	82920795	ACC	A	C82920796G	TBCD	NM_005993.5(TBCD):c.2101+178_2101+179del	noncoding	Benign
17	82929661	CA	C	A82929662T	TBCD	NM_005993.5(TBCD):c.2991+162del	noncoding	Benign
18	178968	TCTTC	T	T178970A	USP14	NM_005151.4(USP14):c.233_236del:p.Leu78fs	coding	Pathogenic
18	669101	CAA	C	A669103G	TYMS	NM_001071.4(TYMS):c.486_487del:p.Arg163fs	coding	Pathogenic
18	669151	C	CTG	A669152T	TYMS	NM_001071.4(TYMS):c.534_535insTG:p.Met179Ter	coding	Pathogenic
18	2656248	C	CGT	C2656259G	SMCHD1	NM_015295.3(SMCHD1):c.182_183dup:p.Gln62fs	coding	Pathogenic
18	2666227	AT	A	T2666231G	SMCHD1	NM_015295.3(SMCHD1):c.261del:p.Phe87fs	coding	Pathogenic
18	2673597	CAT	C	A2673598G	SMCHD1	NM_015295.3(SMCHD1):c.507+235_507+236del	noncoding	Benign
18	2674160	CT	C	T2674172G	SMCHD1	NM_015295.3(SMCHD1):c.638+27del	noncoding	Benign
18	2688479	GCTGT	G	G2688482T	SMCHD1	NM_015295.3(SMCHD1):c.727_730del:p.Val243fs	coding	Pathogenic
18	2697979	TC	T	C2697981G	SMCHD1	NM_015295.3(SMCHD1):c.1282del:p.Arg428fs	coding	Pathogenic
18	2701155	G	GT	G2701164T	SMCHD1	NM_015295.3(SMCHD1):c.1647+245dup	noncoding	Benign
18	2701164	G	GT	A2701178T	SMCHD1	NM_015295.3(SMCHD1):c.1647+259dup	noncoding	Benign
18	2705664	C	CT	A2705678T	SMCHD1	NM_015295.3(SMCHD1):c.1843-17dup	noncoding	Benign
18	2705664	CT	C	T2705677A	SMCHD1	NM_015295.3(SMCHD1):c.1843-17del	noncoding	Benign
18	2705736	G	GT	A2705738T	SMCHD1	NM_015295.3(SMCHD1):c.1886dup:p.Arg630fs	coding	Pathogenic
18	2707569	TGATAG	T	G2707570A	SMCHD1	NM_015295.3(SMCHD1):c.2071_2075del:p.Asp691fs	coding	Pathogenic
18	2707575	A	AT	G2707578T	SMCHD1	NM_015295.3(SMCHD1):c.2078dup:p.Leu693fs	coding	Pathogenic
18	2707626	G	GC	T2707629C	SMCHD1	NM_015295.3(SMCHD1):c.2129dup:p.Ala711fs	coding	Pathogenic
18	2717950	AG	A	G2717951A	SMCHD1	NM_015295.3(SMCHD1):c.2261-207del	noncoding	Benign
18	2722948	TAAC	T	C2722951T	SMCHD1	NM_015295.3(SMCHD1):c.2603+288_2603+290del	noncoding	Benign
18	2724884	AT	A	T2724892C	SMCHD1	NM_015295.3(SMCHD1):c.2604-7del	noncoding	Benign/Likely_benign
18	2728742	GT	G	T2728754A	SMCHD1	NM_015295.3(SMCHD1):c.2913+158del	noncoding	Benign
18	2728742	GTT	G	T2728753A	SMCHD1	NM_015295.3(SMCHD1):c.2913+157_2913+158del	noncoding	Benign
18	2728951	G	GA	G2728965A	SMCHD1	NM_015295.3(SMCHD1):c.2914-311dup	noncoding	Benign
18	2729709	C	CTTT	A2729724T	SMCHD1	NM_015295.3(SMCHD1):c.3048+312_3048+314dup	noncoding	Benign
18	2732489	TAAAG	T	A2732490T	SMCHD1	NM_015295.3(SMCHD1):c.3274_3276+1del	coding	Pathogenic
18	2738354	T	TAGAC	G2738359A	SMCHD1	NM_015295.3(SMCHD1):c.3277-42_3277-39dup	noncoding	Benign
18	2743784	AAG	A	A2743787G	SMCHD1	NM_015295.3(SMCHD1):c.3660_3661del:p.Gly1221fs	coding	Pathogenic
18	2743899	C	CA	T2743900A	SMCHD1	NM_015295.3(SMCHD1):c.3772_3773insA:p.Leu1258fs	coding	Pathogenic
18	2750615	CAG	C	A2750616G	SMCHD1	NM_015295.3(SMCHD1):c.4165+109_4165+110del	noncoding	Benign
18	2751168	C	CAT	G2751169A	SMCHD1	NM_015295.3(SMCHD1):c.4166-110_4166-109insAT	noncoding	Benign
18	2760749	CT	C	T2760756A	SMCHD1	NM_015295.3(SMCHD1):c.4434+17del	noncoding	Benign
18	2762234	AC	A	C2762235G	SMCHD1	NM_015295.3(SMCHD1):c.4565del:p.Thr1522fs	coding	Pathogenic
18	2762492	C	CT	G2762512T	SMCHD1	NM_015295.3(SMCHD1):c.4566+275dup	noncoding	Benign
18	2762492	CT	C	T2762511G	SMCHD1	NM_015295.3(SMCHD1):c.4566+275del	noncoding	Benign
18	2769975	A	AT	C2769984T	SMCHD1	NM_015295.3(SMCHD1):c.4847-6dup	noncoding	Benign
18	2771645	A	AT	A2771652T	SMCHD1	NM_015295.3(SMCHD1):c.5052+33dup	noncoding	Benign
18	2772248	A	AT	G2772249T	SMCHD1	NM_015295.3(SMCHD1):c.5053-2_5053-1insT	noncoding	Pathogenic
18	2775524	TG	T	G2775526A	SMCHD1	NM_015295.3(SMCHD1):c.5176-208del	noncoding	Benign
18	2777515	C	CCAGCTTT	A2777516C	SMCHD1	NM_015295.3(SMCHD1):c.5367-291_5367-290insCAGCTTT	noncoding	Benign
18	2784406	TGAAA	T	G2784407T	SMCHD1	NM_015295.3(SMCHD1):c.5548-43_5548-40del	noncoding	Benign
18	2920827	T	TCA	G2920831A	LPIN2	NM_001375808.2(LPIN2):c.2495_2496dup:p.Asn833Ter	coding	Pathogenic
18	2921628	GTTTCT	G	T2921634A	LPIN2	NM_001375808.2(LPIN2):c.2342_2346del:p.Lys781fs	coding	Pathogenic
18	2923757	C	CAT	G2923758A	LPIN2	NM_001375808.2(LPIN2):c.2174+17_2174+18insAT	noncoding	Benign
18	2925335	T	TC	T2925339C	LPIN2	NM_001375808.2(LPIN2):c.1826dup:p.Ser610fs	coding	Pathogenic
18	2926552	GT	G	T2926558A	LPIN2	NM_001375808.2(LPIN2):c.1793+170del	noncoding	Benign
18	2927737	TTCTC	T	C2927741T	LPIN2	NM_001375808.2(LPIN2):c.1691_1694del:p.Arg564fs	coding	Pathogenic
18	2929253	AATC	A	A2929257T	LPIN2	NM_001375808.2(LPIN2):c.1457-98_1457-96del	noncoding	Benign
18	2937544	TAA	T	A2937570G	LPIN2	NM_001375808.2(LPIN2):c.1168+146_1168+147del	noncoding	Benign
18	2937544	TA	T	A2937571G	LPIN2	NM_001375808.2(LPIN2):c.1168+147del	noncoding	Benign
18	2937696	CTTCT	C	C2937699G	LPIN2	NM_001375808.2(LPIN2):c.1160_1163del:p.Lys387fs	coding	Pathogenic
18	2939614	A	AAC	A2939618C	LPIN2	NM_001375808.2(LPIN2):c.699-13_699-12dup	noncoding	Benign/Likely_benign
18	2940582	CAAG	C	G2940585A	LPIN2	NM_001375808.2(LPIN2):c.698+20_698+22del	noncoding	Benign/Likely_benign
18	2940606	TC	T	C2940607T	LPIN2	NM_001375808.2(LPIN2):c.696del:p.Thr233fs	coding	Pathogenic
18	2951449	TAA	T	A2951462T	LPIN2	NM_001375808.2(LPIN2):c.289-95_289-94del	noncoding	Benign
18	2951449	TA	T	A2951463T	LPIN2	NM_001375808.2(LPIN2):c.289-94del	noncoding	Benign
18	2954884	ATAT	A	A2954889G	LPIN2	NM_001375808.2(LPIN2):c.193-288_193-286del	noncoding	Benign
18	2960514	T	TA	G2960528A	LPIN2	NM_001375808.2(LPIN2):c.192+122dup	noncoding	Benign
18	2960971	TTATTAA	T	A2960973T	LPIN2	NM_001375808.2(LPIN2):c.-9-128_-9-123del	noncoding	Benign
18	3075434	T	TA	G3075444A	MYOM1	NM_003803.4(MYOM1):c.4708+19dup	noncoding	Benign
18	3075505	C	CAAA	G3075506A	MYOM1	NM_003803.4(MYOM1):c.4686-30_4686-29insTTT	noncoding	Benign
18	3079441	CT	C	T3079444C	MYOM1	NM_003803.4(MYOM1):c.4485-100del	noncoding	Benign
18	3086381	G	GA	T3086386A	MYOM1	NM_003803.4(MYOM1):c.4138-234dup	noncoding	Benign
18	3089125	CTATTT	C	T3089131C	MYOM1	NM_003803.4(MYOM1):c.4137+44_4137+48del	noncoding	Benign
18	3094379	GA	G	A3094394C	MYOM1	NM_003803.4(MYOM1):c.3728-74del	noncoding	Benign
18	3094394	AC	A	C3094396A	MYOM1	NM_003803.4(MYOM1):c.3728-89del	noncoding	Benign
18	3120039	G	GT	C3120051T	MYOM1	NM_003803.4(MYOM1):c.2992-55dup	noncoding	Benign
18	3131595	CT	C	T3131605A	MYOM1	NM_003803.4(MYOM1):c.2385-100del	noncoding	Benign
18	3151473	TAAATAAAATA	T	T3151497C	MYOM1	NM_003803.4(MYOM1):c.1843+191TATTT[4]	noncoding	Benign
18	3151473	T	TAAATA	C3151507T	MYOM1	NM_003803.4(MYOM1):c.1843+191TATTT[7]	noncoding	Benign
18	3164452	TA	T	A3164456G	MYOM1	NM_003803.4(MYOM1):c.1340-14del	noncoding	Benign/Likely_benign
18	3174078	A	AAC	T3174091A	MYOM1	NM_003803.4(MYOM1):c.1111+30GT[7]	noncoding	Benign
18	3174086	C	CAT	C3174088T	MYOM1	NM_003803.4(MYOM1):c.1111+33_1111+34insTA	noncoding	Benign
18	3174486	C	CA	G3174497A	MYOM1	NM_003803.4(MYOM1):c.1023-288dup	noncoding	Benign
18	3176200	C	CAT	C3176202T	MYOM1	NM_003803.4(MYOM1):c.930-67_930-66insTA	noncoding	Benign
18	3188666	TACACAC	T	A3188687C	MYOM1	NM_003803.4(MYOM1):c.771+56GT[10]	noncoding	Benign
18	3188666	TAC	T	A3188691C	MYOM1	NM_003803.4(MYOM1):c.771+56GT[12]	noncoding	Benign
18	3188666	T	TAC	C3188693A	MYOM1	NM_003803.4(MYOM1):c.771+56GT[14]	noncoding	Benign
18	3188691	A	ACC	T3188696C	MYOM1	NM_003803.4(MYOM1):c.771+53_771+54dup	noncoding	Benign
18	3189361	C	CT	G3189377T	MYOM1	NM_003803.4(MYOM1):c.432-289dup	noncoding	Benign
18	3447339	TA	T	A3447354G	TGIF1	NM_174886.3(TGIF1):c.-44-9000del	noncoding	Benign
18	3447339	T	TA	G3447355A	TGIF1	NM_174886.3(TGIF1):c.-44-9000dup	noncoding	Benign
18	3448073	C	CG	A3448082G	TGIF1	NM_173207.4(TGIF1):c.58+284dup	noncoding	Benign
18	3451390	C	CAA	G3451392A	TGIF1	NM_003244.4(TGIF1):c.16+886_16+887insAA	noncoding	Benign
18	3458204	A	AT	C3458215T	TGIF1	NM_003244.4(TGIF1):c.*274dup	noncoding	Benign
18	6947269	TC	T	C6947270T	LAMA1	NM_005559.4(LAMA1):c.8737del:p.Asp2913fs	coding	Pathogenic
18	6948430	AG	A	G6948431T	LAMA1	NM_005559.4(LAMA1):c.8682del:p.Phe2895fs	coding	Pathogenic
18	6958494	G	GT	G6958500T	LAMA1	NM_005559.4(LAMA1):c.7946dup:p.Asn2649fs	coding	Pathogenic
18	6971894	T	TA	T6971896A	LAMA1	NM_005559.4(LAMA1):c.6861dup:p.Ile2288fs	coding	Pathogenic
18	6997868	ACACT	A	C6997871T	LAMA1	NM_005559.4(LAMA1):c.4676_4679del:p.Glu1559fs	coding	Pathogenic
18	7010401	GTGT	G	G7010406T	LAMA1	NM_005559.4(LAMA1):c.3688-19_3688-17del	noncoding	Benign
18	7015794	AG	A	G7015800C	LAMA1	NM_005559.4(LAMA1):c.3053del:p.Pro1018fs	coding	Pathogenic
18	7016517	TA	T	A7016518G	LAMA1	NM_005559.4(LAMA1):c.2962del:p.Tyr988fs	coding	Pathogenic
18	7016684	A	AG	A7016690G	LAMA1	NM_005559.4(LAMA1):c.2809-14dup	noncoding	Benign
18	7033110	ATTG	A	G7033113A	LAMA1	NM_005559.4(LAMA1):c.2052-18_2052-16del	noncoding	Benign
18	7040092	CCT	C	C7040093G	LAMA1	NM_005559.4(LAMA1):c.1404_1405del:p.Gly469fs	coding	Pathogenic
18	7043347	CT	C	T7043348G	LAMA1	NM_005559.4(LAMA1):c.1034del:p.Gln345fs	coding	Pathogenic
18	7050787	TA	T	A7050788T	LAMA1	NM_005559.4(LAMA1):c.494del:p.Ile165fs	coding	Pathogenic
18	9103048	GAT	G	A9103061G	NDUFV2	NM_021074.5(NDUFV2):c.54+252AT[6]	noncoding	Benign
18	9119526	TTCTTCCAGTC	T	T9119527C	NDUFV2	NM_021074.5(NDUFV2):c.237_246del:p.Leu80fs	coding	Pathogenic
18	9124801	CT	C	T9124815A	NDUFV2	NM_021074.5(NDUFV2):c.470-59del	noncoding	Benign
18	9126818	A	AT	C9126827T	NDUFV2	NM_021074.5(NDUFV2):c.580-5dup	noncoding	Benign
18	10677883	GA	G	A10677894G	PIEZO2	NM_001378183.1(PIEZO2):c.7953-9del	noncoding	Benign
18	10689469	TGAC	T	G10689473T	PIEZO2	NM_001378183.1(PIEZO2):c.7497+183_7497+185del	noncoding	Benign
18	10690108	TACGAG	T	G10690111C	PIEZO2	NM_001378183.1(PIEZO2):c.7350-311_7350-307del	noncoding	Benign
18	10696537	GTCCTGCAAAA	G	C10696539G	PIEZO2	NM_001378183.1(PIEZO2):c.6828-8_6829del	coding	Pathogenic
18	10699004	TG	T	G10699005T	PIEZO2	NM_001378183.1(PIEZO2):c.6614del:p.Thr2205fs	coding	Pathogenic
18	10701834	C	CT	A10701846T	PIEZO2	NM_001378183.1(PIEZO2):c.6441+144dup	noncoding	Benign
18	10701835	T	TCTC	T10701836C	PIEZO2	NM_001378183.1(PIEZO2):c.6441+153_6441+154insGAG	noncoding	Benign
18	10701844	TTAAA	T	T10701845A	PIEZO2	NM_001378183.1(PIEZO2):c.6441+141_6441+144del	noncoding	Benign
18	10704210	G	GT	G10704212T	PIEZO2	NM_001378183.1(PIEZO2):c.6258+183dup	noncoding	Benign
18	10705480	TGCTC	T	C10705482A	PIEZO2	NM_001378183.1(PIEZO2):c.5851_5854del:p.Glu1951fs	coding	Pathogenic
18	10714478	AG	A	G10714481A	PIEZO2	NM_001378183.1(PIEZO2):c.5423+285del	noncoding	Benign
18	10718209	C	CG	A10718212G	PIEZO2	NM_001378183.1(PIEZO2):c.5079dup:p.Asp1694fs	coding	Pathogenic
18	10731175	GATTATATATATATATATATATATATAT	G	T10731178A	PIEZO2	NM_001378183.1(PIEZO2):c.5029+205_5029+231del	noncoding	Benign
18	10731175	GATTATATATAT	G	T10731178A	PIEZO2	NM_001378183.1(PIEZO2):c.5029+221_5029+231del	noncoding	Benign
18	10731175	GATTATAT	G	T10731178A	PIEZO2	NM_001378183.1(PIEZO2):c.5029+225_5029+231del	noncoding	Benign
18	10731175	GATTAT	G	T10731178A	PIEZO2	NM_001378183.1(PIEZO2):c.5029+227_5029+231del	noncoding	Benign
18	10731667	A	AT	A10731679T	PIEZO2	NM_001378183.1(PIEZO2):c.4915-157dup	noncoding	Benign
18	10731667	AT	A	T10731678A	PIEZO2	NM_001378183.1(PIEZO2):c.4915-147del	noncoding	Benign
18	10736295	T	TCC	T10736296C	PIEZO2	NM_001378183.1(PIEZO2):c.4815+308_4815+309insGG	noncoding	Benign
18	10736478	G	GT	A10736480T	PIEZO2	NM_001378183.1(PIEZO2):c.4815+125dup	noncoding	Benign
18	10742798	T	TTG	A10742830G	PIEZO2	NM_001378183.1(PIEZO2):c.4515-213CA[16]	noncoding	Benign
18	10742798	T	TTGTGTGCG	T10742805C	PIEZO2	NM_001378183.1(PIEZO2):c.4515-184_4515-183insCACACACG	noncoding	Benign
18	10742799	T	TGTGTGC	T10742805C	PIEZO2	NM_001378183.1(PIEZO2):c.4515-185_4515-184insCACACG	noncoding	Benign
18	10742801	T	TGTGC	T10742805C	PIEZO2	NM_001378183.1(PIEZO2):c.4515-187_4515-186insCACG	noncoding	Benign
18	10742803	T	TGC	T10742805C	PIEZO2	NM_001378183.1(PIEZO2):c.4515-189_4515-188insCG	noncoding	Benign
18	10750112	TG	T	G10750113C	PIEZO2	NM_001378183.1(PIEZO2):c.4242del:p.Ala1413_Cys1414insTer	coding	Pathogenic
18	10758343	T	TC	A10758346C	PIEZO2	NM_001378183.1(PIEZO2):c.3758-211dup	noncoding	Benign
18	10759931	C	CA	T10759944A	PIEZO2	NM_001378183.1(PIEZO2):c.3451-34dup	noncoding	Benign
18	10762648	TA	T	A10762657T	PIEZO2	NM_001378183.1(PIEZO2):c.3124-24del	noncoding	Benign
18	10770572	TCTTCCTTC	T	T10770586A	PIEZO2	NM_001378183.1(PIEZO2):c.2786-284GAAG[3]	noncoding	Benign
18	10770572	TCTTC	T	T10770590A	PIEZO2	NM_001378183.1(PIEZO2):c.2786-284GAAG[4]	noncoding	Benign
18	10773462	TCTGACTCCTCG	T	A10773466T	PIEZO2	NM_001378183.1(PIEZO2):c.2724_2734del:p.Ser908fs	coding	Pathogenic
18	10773500	GGCTTTTTCAGAGTA	G	T10773503C	PIEZO2	NM_001378183.1(PIEZO2):c.2683_2696del:p.Tyr895fs	coding	Pathogenic
18	10784735	GA	G	A10784736G	PIEZO2	NM_001378183.1(PIEZO2):c.2492+48del	noncoding	Benign
18	10787201	GAA	G	A10787211T	PIEZO2	NM_001378183.1(PIEZO2):c.2170-19_2170-18del	noncoding	Benign
18	10787201	GA	G	A10787212T	PIEZO2	NM_001378183.1(PIEZO2):c.2170-18del	noncoding	Benign
18	10794980	C	CG	T10794981G	PIEZO2	NM_001378183.1(PIEZO2):c.1549_1550insC:p.Ser517fs	coding	Pathogenic
18	10795316	ATTT	A	T10795318A	PIEZO2	NM_001378183.1(PIEZO2):c.1528-317_1528-315del	noncoding	Benign
18	10800785	C	CA	G10800788A	PIEZO2	NM_001378183.1(PIEZO2):c.1240-312dup	noncoding	Benign
18	10801664	A	ACCACAT	G10801665C	PIEZO2	NM_001378183.1(PIEZO2):c.1201-237_1201-236insATGTGG	noncoding	Benign
18	10803925	T	TC	G10803930C	PIEZO2	NM_001378183.1(PIEZO2):c.1149dup:p.Arg384fs	coding	Pathogenic
18	10856846	GT	G	T10856849G	PIEZO2	NM_001378183.1(PIEZO2):c.703+154del	noncoding	Benign
18	11689670	C	CGGCCCT	C11689682T	GNAL	NM_182978.4(GNAL):c.113_118dup:p.Leu38_Ala39dup	coding	Benign
18	11689670	CGGCCCT	C	T11689676C	GNAL	NM_182978.4(GNAL):c.113_118del:p.Leu38_Ala39del	coding	Benign
18	11689997	G	GGGCGGCGGGCACCGGGGAGC	T11690020C	GNAL	NM_182978.4(GNAL):c.376+61_376+80dup	noncoding	Benign
18	11752487	A	AAAAGAACGAC	G11752498A	GNAL	NM_001369387.1(GNAL):c.55_64dup:p.Arg22fs	coding	Pathogenic
18	11753068	TG	T	G11753070A	GNAL	NM_182978.4(GNAL):c.449+145del	noncoding	Benign
18	11753217	AT	A	T11753224C	GNAL	NM_182978.4(GNAL):c.449+299del	noncoding	Benign
18	11824687	C	CA	C11824698A	GNAL	NM_182978.4(GNAL):c.625-221dup	noncoding	Benign
18	11824694	A	AAAT	A11824697T	GNAL	NM_182978.4(GNAL):c.625-222_625-221insTAA	noncoding	Benign
18	11824701	A	AT	A11824702T	GNAL	NM_182978.4(GNAL):c.625-217_625-216insT	noncoding	Benign
18	11824880	C	CT	A11824893T	GNAL	NM_182978.4(GNAL):c.625-26dup	noncoding	Benign
18	11825000	TTGAC	T	A11825003T	GNAL	NM_182978.4(GNAL):c.710_713del:p.Asp237fs	coding	Pathogenic
18	11867230	A	AT	A11867238T	GNAL	NM_182978.4(GNAL):c.910+11dup	noncoding	Benign
18	11867230	AT	A	T11867237A	GNAL	NM_182978.4(GNAL):c.910+11del	noncoding	Benign
18	11868300	CA	C	A11868312G	GNAL	NM_182978.4(GNAL):c.911-231del	noncoding	Benign
18	11876431	C	CCAGCCTGGGCAAGAGA	G11876448C	GNAL	NM_182978.4(GNAL):c.1163-189_1163-174dup	noncoding	Benign
18	12360044	A	AC	G12360046C	AFG3L2	NM_006796.3(AFG3L2):c.634dup:p.Val212fs	coding	Pathogenic
18	12724582	AGT	A	G12724583A	PSMG2	NM_020232.5(PSMG2):c.666_667del:p.Tyr223fs	coding	Pathogenic
18	13884830	A	AAGATGAAG	C13884840G	MC2R	NM_000529.2(MC2R):c.681_688dup:p.Phe230fs	coding	Pathogenic
18	13884866	G	GT	C13884867T	MC2R	NM_000529.2(MC2R):c.652_653insA:p.Ala218fs	coding	Pathogenic
18	21500544	GA	G	A21500547G	GREB1L	NM_001142966.3(GREB1L):c.3977del:p.Lys1326fs	coding	Pathogenic
18	21500550	CG	C	G21500553C	GREB1L	NM_001142966.3(GREB1L):c.3983del:p.Gly1328fs	coding	Pathogenic
18	21520797	A	ATCT	A21520802C	GREB1L	NM_001142966.3(GREB1L):c.5584_5586dup:p.Leu1862dup	coding	Benign
18	21779861	C	CGTGT	C21779892G	MIB1	NM_020774.4(MIB1):c.908+177GT[17]	noncoding	Benign
18	21779861	CGT	C	G21779890C	MIB1	NM_020774.4(MIB1):c.908+177GT[14]	noncoding	Benign
18	21779861	CGTGT	C	G21779888C	MIB1	NM_020774.4(MIB1):c.908+177GT[13]	noncoding	Benign
18	21779861	CGTGTGT	C	G21779886C	MIB1	NM_020774.4(MIB1):c.908+177GT[12]	noncoding	Benign
18	22171938	AC	A	C22171939T	GATA6	NM_005257.6(GATA6):c.795del:p.Ser266fs	coding	Pathogenic
18	22172111	T	TACC	T22172143C	GATA6	NM_005257.6(GATA6):c.969CCA[11]:p.His333dup	coding	Benign/Likely_benign
18	22181566	GAAACTCC	G	A22181568T	GATA6	NM_005257.6(GATA6):c.1418_1424del:p.Lys473fs	coding	Pathogenic
18	22181884	AGT	A	G22181889A	GATA6	NM_005257.6(GATA6):c.1428+307GT[2]	noncoding	Benign
18	22933579	TCTCTTTAC	T	T22933581C	RBBP8	NM_002894.3(RBBP8):c.-99+17_-99+24del	noncoding	Benign
18	22968872	GTT	G	T22968874G	RBBP8	NM_002894.3(RBBP8):c.317_318del:p.Glu105_Phe106insTer	coding	Pathogenic
18	22969175	GT	G	T22969187G	RBBP8	NM_002894.3(RBBP8):c.361+269del	noncoding	Benign
18	22984837	TTCA	T	C22984845T	RBBP8	NM_002894.3(RBBP8):c.605-48TCA[2]	noncoding	Benign
18	22990922	AT	A	T22990926A	RBBP8	NM_002894.3(RBBP8):c.808-11del	noncoding	Benign
18	23021820	C	CT	A23021834T	RBBP8	NM_002894.3(RBBP8):c.2455-296dup	noncoding	Benign
18	23533496	T	TA	G23533499A	NPC1	NM_000271.5(NPC1):c.3612dup:p.Thr1205fs	coding	Pathogenic
18	23534443	C	CA	C23534445A	NPC1	NM_000271.5(NPC1):c.3591+2dup	noncoding	Pathogenic
18	23534477	GC	G	C23534478G	NPC1	NM_000271.5(NPC1):c.3559del:p.Ala1187fs	coding	Pathogenic
18	23535487	G	GGA	T23535490G	NPC1	NM_000271.5(NPC1):c.3457_3458dup:p.Leu1154fs	coding	Pathogenic
18	23535532	CAT	C	A23535533G	NPC1	NM_000271.5(NPC1):c.3412_3413del:p.Met1138fs	coding	Pathogenic
18	23535596	A	AG	A23535599G	NPC1	NM_000271.5(NPC1):c.3349dup:p.Leu1117fs	coding	Pathogenic
18	23535598	GA	G	A23535599G	NPC1	NM_000271.5(NPC1):c.3347del:p.Leu1116fs	coding	Pathogenic
18	23535620	AT	A	T23535621C	NPC1	NM_000271.5(NPC1):c.3325del:p.Ile1109fs	coding	Pathogenic/Likely_pathogenic
18	23535625	G	GC	A23535629C	NPC1	NM_000271.5(NPC1):c.3320dup:p.Ala1108fs	coding	Pathogenic
18	23535636	C	CA	C23535638A	NPC1	NM_000271.5(NPC1):c.3309dup:p.Val1104fs	coding	Pathogenic/Likely_pathogenic
18	23535645	T	TGA	A23535648G	NPC1	NM_000271.5(NPC1):c.3299_3300dup:p.Asn1101fs	coding	Pathogenic
18	23535651	T	TA	G23535653A	NPC1	NM_000271.5(NPC1):c.3294dup:p.Ile1099fs	coding	Pathogenic
18	23535664	GA	G	A23535665T	NPC1	NM_000271.5(NPC1):c.3281del:p.Ile1094fs	coding	Pathogenic
18	23535690	CAT	C	T23535692A	NPC1	NM_000271.5(NPC1):c.3254_3255del:p.Tyr1085fs	coding	Pathogenic
18	23535695	AAC	A	A23535700T	NPC1	NM_000271.4(NPC1):c.3249_3250del	coding	Pathogenic
18	23536764	TAA	T	A23536766G	NPC1	NM_000271.5(NPC1):c.3152_3153del:p.Phe1051fs	coding	Pathogenic
18	23536795	G	GT	A23536797T	NPC1	NM_000271.5(NPC1):c.3122dup:p.Tyr1041Ter	coding	Pathogenic
18	23536802	ATGAAGTACGTGGCTCCGACC	CGACCTG	A23536802C	NPC1	NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG:p.Arg1032fs	coding	Pathogenic
18	23536806	AGTAC	A	A23536809G	NPC1	NM_000271.5(NPC1):c.3108_3111del:p.Tyr1037fs	coding	Pathogenic
18	23536833	GGC	G	G23536834C	NPC1	NM_000271.5(NPC1):c.3083_3084del:p.Gly1028fs	coding	Pathogenic
18	23538545	TTGCCAC	GAGTAAACCT	T23538545G	NPC1	NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC:p.Cys1011_Lys1013delinsTer	coding	Pathogenic
18	23538557	G	GGTTA	G23538559T	NPC1	NM_000271.5(NPC1):c.3025_3026insTAAC:p.Pro1009fs	coding	Pathogenic
18	23538579	AC	A	C23538580A	NPC1	NM_000271.5(NPC1):c.3003del:p.Met1001fs	coding	Pathogenic
18	23538610	CT	C	T23538611G	NPC1	NM_000271.5(NPC1):c.2972del:p.Gln991fs	coding	Pathogenic
18	23538616	CCT	C	C23538619G	NPC1	NM_000271.5(NPC1):c.2965_2966del:p.Arg989fs	coding	Pathogenic/Likely_pathogenic
18	23538619	CTGTT	C	T23538622C	NPC1	NM_000271.5(NPC1):c.2960_2963del:p.Lys987fs	coding	Pathogenic
18	23538629	T	TA	C23538630A	NPC1	NM_000271.5(NPC1):c.2953_2954insT:p.Glu985fs	coding	Pathogenic/Likely_pathogenic
18	23539357	G	GA	G23539360A	NPC1	NM_000271.5(NPC1):c.2908dup:p.Ser970fs	coding	Pathogenic
18	23539407	CTG	C	T23539410G	NPC1	NM_000271.5(NPC1):c.2857_2858del:p.Gln953fs	coding	Pathogenic
18	23539442	AG	A	G23539444A	NPC1	NM_000271.5(NPC1):c.2823del:p.Trp942fs	coding	Pathogenic
18	23539854	AATCATTGTTGCAGCCC	A	C23539857G	NPC1	NM_000271.5(NPC1):c.2736_2751del:p.Met912fs	coding	Pathogenic
18	23539886	AT	A	T23539887G	NPC1	NM_000271.5(NPC1):c.2719del:p.Met907fs	coding	Pathogenic
18	23539922	T	TC	T23539925C	NPC1	NM_000271.5(NPC1):c.2683dup:p.Glu895fs	coding	Pathogenic/Likely_pathogenic
18	23539958	AG	A	G23539960T	NPC1	NM_000271.5(NPC1):c.2647del:p.Leu883fs	coding	Pathogenic
18	23539993	GT	G	T23539994A	NPC1	NM_000271.5(NPC1):c.2612del:p.Tyr871fs	coding	Pathogenic
18	23540417	T	TA	G23540434A	NPC1	NM_000271.5(NPC1):c.2604+15dup	noncoding	Benign
18	23540520	A	AC	A23540524C	NPC1	NM_000271.5(NPC1):c.2531dup:p.Val845fs	coding	Pathogenic/Likely_pathogenic
18	23543332	G	GA	G23543347A	NPC1	NM_000271.5(NPC1):c.2245+109dup	noncoding	Benign
18	23543333	A	AGAAAAAAAAAAAAAG	A23543334G	NPC1	NM_000271.5(NPC1):c.2245+121_2245+122insCTTTTTTTTTTTTTC	noncoding	Benign
18	23543520	AC	A	C23543523T	NPC1	NM_000271.5(NPC1):c.2179del:p.Val727fs	coding	Pathogenic
18	23543537	ATCCAG	A	T23543538G	NPC1	NM_000271.5(NPC1):c.2158_2162del:p.Leu720fs	coding	Pathogenic
18	23543564	ATC	A	C23543570T	NPC1	NM_000271.4(NPC1):c.2134_2135del	coding	Pathogenic
18	23543572	T	TA	T23543591A	NPC1	NM_000271.5(NPC1):c.2131-21dup	noncoding	Benign/Likely_benign
18	23544344	CT	C	T23544345G	NPC1	NM_000271.5(NPC1):c.2129del:p.Gln710fs	coding	Pathogenic
18	23544387	GC	G	C23544389A	NPC1	NM_000271.5(NPC1):c.2086del:p.Ala696fs	coding	Pathogenic/Likely_pathogenic
18	23544396	AG	A	G23544398A	NPC1	NM_000271.5(NPC1):c.2077del:p.Leu693fs	coding	Pathogenic
18	23544434	C	CA	C23544437A	NPC1	NM_000271.5(NPC1):c.2039dup:p.Leu680fs	coding	Pathogenic
18	23544454	CA	C	A23544455C	NPC1	NM_000271.5(NPC1):c.2019del:p.Val674fs	coding	Pathogenic
18	23544943	A	ACC	G23544953C	NPC1	NM_000271.5(NPC1):c.1947+8_1947+9dup	noncoding	Benign
18	23544943	AC	A	C23544952G	NPC1	NM_000271.5(NPC1):c.1947+16del	noncoding	Benign/Likely_benign
18	23544944	C	CCA	C23544946A	NPC1	NM_000271.5(NPC1):c.1947+15_1947+16insGT	noncoding	Benign/Likely_benign
18	23544944	C	CCG	C23544946G	NPC1	NM_000271.5(NPC1):c.1947+15_1947+16insGC	noncoding	Benign
18	23544947	C	CCCCA	C23544951A	NPC1	NM_000271.5(NPC1):c.1947+12_1947+13insGGGT	noncoding	Benign
18	23544947	C	CCCCT	C23544951T	NPC1	NM_000271.5(NPC1):c.1947+12_1947+13insGGGA	noncoding	Benign
18	23544948	C	CCCCA	C23544952A	NPC1	NM_000271.5(NPC1):c.1947+11_1947+12insGGGT	noncoding	Benign
18	23544949	C	CCCCA	G23544953A	NPC1	NM_000271.5(NPC1):c.1947+10_1947+11insGGGT	noncoding	Benign
18	23544949	C	CCCCCA	G23544953C	NPC1	NM_000271.5(NPC1):c.1947+10_1947+11insGGGTG	noncoding	Benign
18	23544950	C	CA	C23544951A	NPC1	NM_000271.5(NPC1):c.1947+9_1947+10insT	noncoding	Benign/Likely_benign
18	23548002	TCA	T	A23548004T	NPC1	NM_000271.5(NPC1):c.1757+2_1757+3del	noncoding	Pathogenic
18	23548008	TTTTTCCCA	AT	T23548008A	NPC1	NM_000271.5(NPC1):c.1747_1755delinsAT:p.Trp583fs	coding	Pathogenic
18	23548339	C	CT	A23548357T	NPC1	NM_000271.5(NPC1):c.1655-248dup	noncoding	Benign
18	23548339	C	CTT	A23548357T	NPC1	NM_000271.5(NPC1):c.1655-248_1655-247dup	noncoding	Benign
18	23548339	CTT	C	T23548355A	NPC1	NM_000271.5(NPC1):c.1655-233_1655-232del	noncoding	Benign
18	23551625	A	AC	A23551628C	NPC1	NM_000271.5(NPC1):c.1654+1dup	noncoding	Pathogenic
18	23551661	T	TGGTCCACC	A23551670G	NPC1	NM_000271.5(NPC1):c.1612_1619dup:p.Phe542fs	coding	Pathogenic
18	23554605	CA	C	A23554621G	NPC1	NM_000271.5(NPC1):c.1553+152del	noncoding	Benign
18	23554778	CGT	C	T23554782G	NPC1	NM_000271.5(NPC1):c.1531_1532del:p.Thr511fs	coding	Pathogenic
18	23554851	T	TA	T23554854A	NPC1	NM_000271.5(NPC1):c.1459dup:p.Tyr487fs	coding	Pathogenic
18	23554859	CA	C	A23554860C	NPC1	NM_000271.5(NPC1):c.1451del:p.Val484fs	coding	Pathogenic
18	23554872	G	GTGCA	G23554877T	NPC1	NM_000271.5(NPC1):c.1435_1438dup:p.Thr480fs	coding	Pathogenic
18	23554893	G	GA	G23554897A	NPC1	NM_000271.5(NPC1):c.1417dup:p.Ser473fs	coding	Pathogenic
18	23556330	A	AG	C23556335G	NPC1	NM_000271.5(NPC1):c.1238dup:p.Leu414fs	coding	Pathogenic
18	23556387	G	GTA	C23556390T	NPC1	NM_000271.5(NPC1):c.1180_1181dup:p.Phe395fs	coding	Pathogenic
18	23556407	CCTGGCTGCTGGGGGCTGACCAGAGGTCAA	C	C23556412A	NPC1	NM_000271.5(NPC1):c.1133_1161del:p.Val378fs	coding	Pathogenic/Likely_pathogenic
18	23556416	T	TG	C23556422G	NPC1	NM_000271.5(NPC1):c.1152dup:p.Ser385fs	coding	Pathogenic
18	23556455	GGACA	G	G23556456A	NPC1	NM_000271.5(NPC1):c.1110_1113del:p.Val371fs	coding	Pathogenic
18	23556475	GAACACGCAGT	G	C23556478T	NPC1	NM_000271.5(NPC1):c.1084_1093del:p.Thr362fs	coding	Pathogenic
18	23557144	CTATA	C	A23557146T	NPC1	NM_000271.5(NPC1):c.924_927del:p.Asn308fs	coding	Pathogenic
18	23557176	AC	A	C23557177A	NPC1	NM_000271.5(NPC1):c.895del:p.Val299fs	coding	Pathogenic
18	23559959	C	CAA	G23559971A	NPC1	NM_000271.5(NPC1):c.881+261_881+262dup	noncoding	Benign
18	23560259	C	CA	C23560266A	NPC1	NM_000271.5(NPC1):c.852dup:p.Gly285fs	coding	Pathogenic/Likely_pathogenic
18	23560349	GT	G	T23560350G	NPC1	NM_000271.5(NPC1):c.762del:p.Pro255fs	coding	Pathogenic
18	23560356	CTGGGGCT	C	T23560363C	NPC1	NM_000271.5(NPC1):c.749_755del:p.Lys250fs	coding	Pathogenic
18	23560357	TG	T	G23560361C	NPC1	NM_000271.5(NPC1):c.754del:p.Gln252fs	coding	Pathogenic
18	23560418	CCA	C	C23560421G	NPC1	NM_000271.5(NPC1):c.692_693del:p.Val231fs	coding	Pathogenic
18	23560467	AT	A	T23560468G	NPC1	NM_000271.5(NPC1):c.644del:p.His215fs	coding	Pathogenic
18	23568856	ACT	A	C23568859T	NPC1	NM_000271.5(NPC1):c.428_429del:p.Glu143fs	coding	Pathogenic
18	23568915	G	GT	A23568917T	NPC1	NM_000271.5(NPC1):c.370dup:p.Thr124fs	coding	Pathogenic
18	23568935	C	CT	G23568937T	NPC1	NM_000271.5(NPC1):c.350dup:p.Ser118fs	coding	Pathogenic
18	23572111	TTA	T	T23572112G	NPC1	NM_000271.5(NPC1):c.248_249del:p.Leu83fs	coding	Pathogenic
18	23572444	GTTTT	G	T23572447G	NPC1	NM_000271.5(NPC1):c.181-268_181-265del	noncoding	Benign
18	23573487	T	TA	T23573488A	NPC1	NM_000271.5(NPC1):c.144_145insT:p.Lys49Ter	coding	Pathogenic/Likely_pathogenic
18	23573534	A	ATTCC	A23573539T	NPC1	NM_000271.5(NPC1):c.94_97dup:p.Ile33fs	coding	Pathogenic
18	23586319	C	CA	G23586322A	NPC1	NM_000271.5(NPC1):c.24dup:p.Gly9fs	coding	Pathogenic
18	23777252	T	TA	C23777264A	LAMA3	NM_198129.4(LAMA3):c.1406-294dup	noncoding	Benign
18	23813265	A	AT	C23813276T	LAMA3	NM_198129.4(LAMA3):c.1788+172dup	noncoding	Benign
18	23867552	CA	C	A23867568G	LAMA3	NM_198129.4(LAMA3):c.4684-266del	noncoding	Benign
18	23873151	CA	C	A23873152T	LAMA3	NM_000227.6(LAMA3):c.108del:p.Leu38fs	coding	Pathogenic/Likely_pathogenic
18	23876293	GGGTT	G	G23876295T	LAMA3	NM_198129.4(LAMA3):c.5000_5003del:p.Gly1667fs	noncoding	Pathogenic
18	23876342	CG	C	G23876344T	LAMA3	NM_198129.4(LAMA3):c.5049del:p.Cys1684fs	coding	Pathogenic/Likely_pathogenic
18	23876402	TG	T	G23876403T	LAMA3	NM_198129.4(LAMA3):c.5108del:p.Cys1703fs	coding	Pathogenic
18	23881982	AG	A	G23881985C	LAMA3	NM_198129.4(LAMA3):c.5162del:p.Gly1721fs	coding	Pathogenic
18	23894988	AG	A	G23894991C	LAMA3	NM_198129.4(LAMA3):c.5546del:p.Gly1849fs	coding	Pathogenic
18	23895011	C	CT	C23895014T	LAMA3	NM_198129.4(LAMA3):c.5568dup:p.Leu1857fs	coding	Pathogenic
18	23898742	AGTTGCTCAACTACC	A	G23898746C	LAMA3	NM_198129.4(LAMA3):c.5622_5635del:p.Leu1874fs	coding	Pathogenic
18	23901244	GGCTGCAGGAGGCA	G	A23901250C	LAMA3	NM_198129.4(LAMA3):c.6128_6140del:p.Gln2043fs	coding	Pathogenic
18	23903923	GA	G	A23903929T	LAMA3	NM_198129.4(LAMA3):c.6319-4del	noncoding	Benign
18	23903923	G	GA	T23903930A	LAMA3	NM_198129.4(LAMA3):c.6319-4dup	noncoding	Benign
18	23903962	TGAAG	CTGGCAAGA	T23903962C	LAMA3	NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA:p.Glu2117fs	coding	Pathogenic
18	23907762	TTGATGCTA	T	G23907767C	LAMA3	NM_198129.4(LAMA3):c.6847_6854del:p.Ala2283fs	coding	Pathogenic
18	23915375	CA	C	A23915382C	LAMA3	NM_198129.4(LAMA3):c.7738del:p.Thr2580fs	coding	Pathogenic
18	23921495	ATGT	TGC	A23921495T	LAMA3	NM_198129.4(LAMA3):c.8087_8090delinsTGC:p.Asn2696fs	coding	Pathogenic
18	23928227	CG	C	G23928229A	LAMA3	NM_198129.4(LAMA3):c.8284del:p.Glu2762fs	coding	Pathogenic
18	23932287	CA	C	A23932288G	LAMA3	NM_198129.4(LAMA3):c.8705del:p.Gln2902fs	coding	Pathogenic
18	23946165	G	GA	G23946170A	LAMA3	NM_198129.4(LAMA3):c.9236dup:p.Arg3081fs	coding	Pathogenic
18	23950149	AG	A	G23950151C	LAMA3	NM_198129.4(LAMA3):c.9634del:p.Ala3212fs	coding	Pathogenic
18	23953325	GT	G	T23953337G	LAMA3	NM_198129.4(LAMA3):c.9856+228del	noncoding	Benign
18	23954401	TAA	T	A23954422T	LAMA3	NM_198129.4(LAMA3):c.9857-81_9857-80del	noncoding	Benign
18	26455686	TTTTG	T	T26455691A	KCTD1	NM_001142730.3(KCTD1):c.*49CAAA[1]	noncoding	Benign
18	26455940	GTAAGTCC	G	A26455943T	KCTD1	NM_001142730.3(KCTD1):c.2440-46_2440-40del	noncoding	Benign
18	26460000	AT	A	T26460007C	KCTD1	NM_001142730.3(KCTD1):c.2134-76del	noncoding	Benign
18	26548258	TTCC	T	C26548270G	KCTD1	NM_001142730.3(KCTD1):c.267GGA[3]:p.Glu96del	coding	Benign
18	27990017	CAAAT	C	A27990019G	CDH2	NM_001792.5(CDH2):c.1598+76_1598+79del	noncoding	Benign
18	28013913	T	TA	G28013918A	CDH2	NM_001792.5(CDH2):c.173-5dup	noncoding	Benign
18	28013958	C	CA	C28013968A	CDH2	NM_001792.5(CDH2):c.173-58dup	noncoding	Benign
18	28177057	A	AGGC	A28177084C	CDH2	NM_001792.5(CDH2):c.-59GCC[9]	noncoding	Benign
18	28177057	AGGCGGC	A	C28177078A	CDH2	NM_001792.5(CDH2):c.-59GCC[6]	noncoding	Benign
18	30993914	T	TAA	G30993927A	DSC3	NM_001941.5(DSC3):c.*259_*260dup	noncoding	Benign
18	30993914	T	TA	G30993927A	DSC3	NM_001941.5(DSC3):c.*260dup	noncoding	Benign
18	30994547	AG	A	G30994548T	DSC3	NM_001941.5(DSC3):c.2494-176del	noncoding	Benign
18	31018884	TCA	T	C31018887T	DSC3	NM_001941.5(DSC3):c.943-86_943-85del	noncoding	Benign
18	31018900	CTG	C	G31018906T	DSC3	NM_001941.5(DSC3):c.943-106CA[2]	noncoding	Benign
18	31030935	G	GA	T31030942A	DSC3	NM_001941.5(DSC3):c.354+32dup	noncoding	Benign
18	31031453	TG	T	G31031454T	DSC3	NM_001941.5(DSC3):c.155-282del	noncoding	Benign
18	31032552	GTA	G	A31032554G	DSC3	NM_001941.5(DSC3):c.70-278_70-277del	noncoding	Benign
18	31068035	C	CT	G31068037T	DSC2	NM_024422.6(DSC2):c.2685dup:p.Glu896fs	coding	Benign
18	31068036	T	TC	G31068037C	DSC2	NM_024422.6(DSC2):c.2684_2685insG:p.Glu896fs	coding	Benign
18	31068363	CAT	C	A31068364G	DSC2	NM_024422.6(DSC2):c.2509-153_2509-152del	noncoding	Benign/Likely_benign
18	31070839	T	TA	C31070843A	DSC2	NM_024422.6(DSC2):c.2136dup:p.Thr713fs	coding	Pathogenic
18	31071797	A	AG	C31071799G	DSC2	NM_024422.6(DSC2):c.1932dup:p.Ser645fs	coding	Pathogenic
18	31074421	ATG	A	G31074467T	DSC2	NM_024422.6(DSC2):c.1888+216CA[22]	noncoding	Benign
18	31074421	ATGTG	A	G31074465T	DSC2	NM_024422.6(DSC2):c.1888+216CA[21]	noncoding	Benign
18	31074421	ATGTGTGTG	A	G31074461T	DSC2	NM_024422.6(DSC2):c.1888+216CA[19]	noncoding	Benign
18	31074421	ATGTGTGTGTG	A	G31074459T	DSC2	NM_024422.6(DSC2):c.1888+216CA[18]	noncoding	Benign
18	31074421	ATGTGTGTGTGTG	A	G31074457T	DSC2	NM_024422.6(DSC2):c.1888+216CA[17]	noncoding	Benign
18	31074421	ATGTGTGTGTGTGTG	A	G31074455T	DSC2	NM_024422.6(DSC2):c.1888+216CA[16]	noncoding	Benign
18	31074729	A	ACT	C31074735T	DSC2	NM_024422.6(DSC2):c.1840_1841dup:p.Ser614fs	coding	Pathogenic
18	31074837	AGGTATGAATGGGCT	A	G31074839T	DSC2	NM_024422.6(DSC2):c.1720_1733del:p.Asn573_Ser574insTer	coding	Pathogenic
18	31079938	TG	T	G31079939T	DSC2	NM_024422.6(DSC2):c.1571del:p.Thr524fs	coding	Pathogenic
18	31082041	TA	T	A31082052T	DSC2	NM_024422.6(DSC2):c.1263+196del	noncoding	Benign
18	31082261	CA	C	A31082262T	DSC2	NM_024422.6(DSC2):c.1239del:p.Asn413fs	coding	Pathogenic
18	31082387	CCA	C	C31082390T	DSC2	NM_024422.6(DSC2):c.1112_1113del:p.Val371fs	coding	Pathogenic
18	31082943	TTGGCAAG	T	C31082947T	DSC2	NM_024422.6(DSC2):c.1053_1059del:p.His351fs	coding	Pathogenic
18	31082979	T	TA	C31082981A	DSC2	NM_024422.6(DSC2):c.1023dup:p.Ile342fs	coding	Pathogenic
18	31083068	C	CA	G31083076A	DSC2	NM_024422.6(DSC2):c.943-9dup	noncoding	Benign
18	31086564	T	TA	G31086565A	DSC2	NM_024422.6(DSC2):c.942+11_942+12insT	noncoding	Benign
18	31086564	T	TTAA	G31086565T	DSC2	NM_024422.6(DSC2):c.942+11_942+12insTTA	noncoding	Benign
18	31086565	G	GAAT	T31086566A	DSC2	NM_024422.6(DSC2):c.942+10_942+11insATT	noncoding	Benign
18	31087714	TA	T	A31087719T	DSC2	NM_024422.6(DSC2):c.729del:p.Phe243fs	coding	Pathogenic
18	31087758	AG	A	G31087762C	DSC2	NM_024422.6(DSC2):c.685del:p.Pro228_Leu229insTer	coding	Pathogenic
18	31089164	C	CAA	C31089184A	DSC2	NM_024422.6(DSC2):c.630+256_630+257dup	noncoding	Benign
18	31089164	C	CA	C31089184A	DSC2	NM_024422.6(DSC2):c.630+256dup	noncoding	Benign
18	31089425	AT	A	T31089429A	DSC2	NM_024422.6(DSC2):c.630+13del	noncoding	Benign
18	31089471	GACGAGTACAAT	G	G31089474A	DSC2	NM_024422.6(DSC2):c.587_597del:p.Tyr196fs	coding	Pathogenic
18	31089496	G	GTC	C31089505T	DSC2	NM_024422.6(DSC2):c.571_572dup:p.Asp191fs	coding	Pathogenic
18	31089566	G	GTA	G31089571T	DSC2	NM_024422.6(DSC2):c.501_502dup:p.Thr168fs	coding	Pathogenic
18	31089701	CTTAA	C	A31089704T	DSC2	NM_024422.6(DSC2):c.475-111_475-108del	noncoding	Benign
18	31091044	GGA	CG	G31091044C	DSC2	NM_024422.6(DSC2):c.456_458delinsCG:p.Pro153fs	coding	Pathogenic
18	31091418	GA	G	A31091427T	DSC2	NM_024422.6(DSC2):c.355-272del	noncoding	Benign
18	31092113	CT	C	T31092114C	DSC2	NM_024422.6(DSC2):c.341del:p.Glu114fs	coding	Pathogenic
18	31092158	G	GT	G31092159T	DSC2	NM_024422.6(DSC2):c.296_297insA:p.Asn100fs	coding	Pathogenic
18	31093598	CATGTA	C	A31093603C	DSC2	NM_024422.6(DSC2):c.110_114del:p.Leu37fs	coding	Pathogenic
18	31093616	TG	T	G31093617C	DSC2	NM_024422.6(DSC2):c.96del:p.Ala31_Cys32insTer	coding	Pathogenic/Likely_pathogenic
18	31093635	TA	T	A31093636T	DSC2	NM_024422.6(DSC2):c.77del:p.Ile26fs	coding	Pathogenic/Likely_pathogenic
18	31093645	T	TA	T31093652A	DSC2	NM_024422.6(DSC2):c.70-8dup	noncoding	Benign/Likely_benign
18	31101938	CGT	TGC	C31101938T	DSC2	NM_024422.6(DSC2):c.32_34delinsGCA:p.Asn11_Gly12delinsSerArg	coding	Benign/Likely_benign
18	31102705	AT	A	T31102708A	DSC2	Single_allele	noncoding	Benign
18	31318340	A	AT	C31318346T	DSG1	NM_001942.4(DSG1):c.45dup:p.Leu16fs	coding	Pathogenic
18	31328284	GA	G	A31328288C	DSG1	NM_001942.4(DSG1):c.316del:p.Thr106fs	coding	Pathogenic
18	31334329	AAT	A	T31334339A	DSG1	NM_001942.4(DSG1):c.1005+128AT[4]	noncoding	Benign
18	31336267	G	GAT	T31336268A	DSG1	NM_001942.4(DSG1):c.1006-87_1006-86insAT	noncoding	Benign
18	31336566	CTT	C	T31336568G	DSG1	NM_001942.4(DSG1):c.1220_1221del:p.Phe407fs	coding	Pathogenic
18	31338241	AC	A	C31338242A	DSG1	NM_001942.4(DSG1):c.1266-73del	noncoding	Benign
18	31340033	CT	C	T31340036A	DSG1	NM_001942.4(DSG1):c.1687+11del	noncoding	Benign
18	31465125	C	CA	G31465140A	DSG3	NM_001944.3(DSG3):c.1272-179dup	noncoding	Benign
18	31519811	CA	C	A31519812C	DSG2	NM_001943.5(DSG2):c.91del:p.Thr31fs	coding	Pathogenic/Likely_pathogenic
18	31521140	GA	G	A31521143C	DSG2	NM_001943.5(DSG2):c.423del:p.Lys141fs	coding	Pathogenic
18	31521252	C	CT	A31521268T	DSG2	NM_001943.5(DSG2):c.523+24dup	noncoding	Benign
18	31522085	ACTCTTGT	A	C31522086G	DSG2	NM_001943.5(DSG2):c.527_533del:p.Thr176fs	coding	Pathogenic
18	31522171	G	GCCTGCTTATCCTCCAGTGTTCTACCTAAATAAAGATACAGGAGAGA	T31522218C	DSG2	NM_001943.5(DSG2):c.613_658dup:p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer	coding	Pathogenic
18	31522188	TG	T	G31522189T	DSG2	NM_001943.5(DSG2):c.630del:p.Phe211fs	coding	Pathogenic
18	31522207	T	TA	C31522209A	DSG2	NM_001943.5(DSG2):c.649dup:p.Thr217fs	coding	Pathogenic
18	31522232	GTTACC	G	A31522235G	DSG2	NM_001943.5(DSG2):c.676_680del:p.Thr226fs	coding	Pathogenic
18	31522310	CTTTTT	C	T31522311C	DSG2	NM_001943.5(DSG2):c.690+62_690+66del	noncoding	Benign
18	31524559	A	AATATACCT	G31524568A	DSG2	NM_001943.5(DSG2):c.803_810dup:p.Val271fs	coding	Pathogenic/Likely_pathogenic
18	31524700	CA	C	A31524701G	DSG2	NM_001943.5(DSG2):c.829-2del	noncoding	Pathogenic
18	31524701	AGCTTGAAG	A	C31524703G	DSG2	NM_001943.3(DSG2):c.829_836del	noncoding	Pathogenic
18	31524723	AAATC	A	T31524726G	DSG2	NM_001943.5(DSG2):c.852_855del:p.Asn284fs	coding	Pathogenic
18	31524752	T	TA	G31524757A	DSG2	NM_001943.5(DSG2):c.882dup:p.Val295fs	coding	Pathogenic/Likely_pathogenic
18	31524782	CT	C	T31524783G	DSG2	NM_001943.5(DSG2):c.909del:p.Asp304fs	coding	Pathogenic
18	31524811	G	GAAATGAAGGAGGTTATTTCCTT	C31524812A	DSG2	NM_001943.5(DSG2):c.937_938insAAATGAAGGAGGTTATTTCCTT:p.Ala313fs	coding	Pathogenic
18	31531024	G	GTGTT	A31531029T	DSG2	NM_001943.5(DSG2):c.1053_1056dup:p.Ile353fs	coding	Pathogenic
18	31538922	T	TG	C31538926G	DSG2	NM_001943.5(DSG2):c.1826dup:p.Leu610fs	coding	Pathogenic/Likely_pathogenic
18	31541231	GGCGCCAAAGGCTTT	G	G31541232A	DSG2	NM_001943.5(DSG2):c.1919_1932del:p.Gly640fs	coding	Pathogenic
18	31542959	GT	G	T31542973C	DSG2	NM_001943.5(DSG2):c.2334+121del	noncoding	Benign
18	31545515	A	AT	C31545522T	DSG2	NM_001943.5(DSG2):c.2335-200dup	noncoding	Benign
18	31545760	G	GCCAAA	G31545766C	DSG2	NM_001943.5(DSG2):c.2375_2379dup:p.Asp794fs	coding	Pathogenic
18	31545863	TAGATGATTTGGGACTTAAATTCAAGACACTAGCTGAAGTTTGCCTGGGTCAAAAAATAGATATAAATAAGGAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTATGAACACAGCTTCACATTCACTCTGTGAGCAAACTATGGTTAATTCAGAGAATACCTACTCCTCTGGCAGTAGCTTCCCAGTTCCAAAATCTTTGCAAGAAGCCAATGCAGAGAAAGTAACTC	T	A31545866G	DSG2	NM_001943.5(DSG2):c.2480_2712del:p.Asp827fs	coding	Pathogenic
18	31545934	GA	G	A31545937T	DSG2	NM_001943.5(DSG2):c.2551del:p.Ile851fs	coding	Pathogenic/Likely_pathogenic
18	31546263	G	GA	G31546265A	DSG2	NM_001943.5(DSG2):c.2878dup:p.Ser960fs	coding	Pathogenic
18	31546435	A	AG	A31546439G	DSG2	NM_001943.5(DSG2):c.3052dup:p.Glu1018fs	coding	Pathogenic/Likely_pathogenic
18	31595139	GA	CT	G31595139C	TTR	NM_000371.4(TTR):c.220_221delinsCT:p.Glu74Leu	coding	Pathogenic/Likely_pathogenic
18	33578458	C	CCCG	A33578500G	ASXL3	NM_030632.3(ASXL3):c.-171GCC[14]	noncoding	Benign
18	33578458	CCCG	C	G33578497A	ASXL3	NM_030632.3(ASXL3):c.-171GCC[12]	noncoding	Benign
18	33661897	T	TAA	C33661907A	ASXL3	NM_030632.3(ASXL3):c.477+168_477+169dup	noncoding	Benign
18	33661897	T	TA	C33661907A	ASXL3	NM_030632.3(ASXL3):c.477+169dup	noncoding	Benign
18	33734044	TGCTTTAGCATTCTTCTAAAGCATTTA	T	C33734108T	ASXL3	NM_030632.3(ASXL3):c.977-265GCTTTAGCATTCTTCTAAAGCATTTA[2]	noncoding	Benign
18	33734044	T	TGCTTTAGCATTCTTCTAAAGCATTTA	T33734134C	ASXL3	NM_030632.3(ASXL3):c.977-265GCTTTAGCATTCTTCTAAAGCATTTA[4]	noncoding	Benign
18	33734405	TAT	AA	T33734405A	ASXL3	NM_030632.3(ASXL3):c.1072_1074delinsAA:p.Tyr358fs	coding	Pathogenic
18	33738675	CTATGG	C	T33738678G	ASXL3	NM_030632.3(ASXL3):c.1274_1278del:p.Met425fs	coding	Pathogenic
18	33738845	GA	G	A33738848G	ASXL3	NM_030632.3(ASXL3):c.1444del:p.Ser482fs	coding	Pathogenic
18	33739067	GAC	G	C33739071G	ASXL3	NM_030632.3(ASXL3):c.1667_1668del:p.Thr556fs	coding	Pathogenic
18	33739267	C	CT	G33739269T	ASXL3	NM_030632.3(ASXL3):c.1864dup:p.Cys622fs	coding	Pathogenic
18	33742894	CT	C	T33742897C	ASXL3	NM_030632.3(ASXL3):c.3049del:p.Ser1017fs	coding	Pathogenic
18	33742911	AC	A	C33742913T	ASXL3	NM_030632.3(ASXL3):c.3065del:p.Pro1022fs	coding	Pathogenic
18	33742984	GGGAGGAAC	G	G33742985A	ASXL3	NM_030632.3(ASXL3):c.3137_3144del:p.Gly1046fs	coding	Pathogenic
18	33743108	TG	T	G33743111A	ASXL3	NM_030632.3(ASXL3):c.3263del:p.Gly1088fs	coding	Pathogenic
18	33743122	G	GA	G33743124A	ASXL3	NM_030632.3(ASXL3):c.3275dup:p.Gly1094fs	coding	Pathogenic
18	33743251	TCA	CC	T33743251C	ASXL3	NM_030632.3(ASXL3):c.3403_3405delinsCC:p.Ser1135fs	coding	Pathogenic
18	33743287	A	AC	T33743292C	ASXL3	NM_030632.3(ASXL3):c.3443dup:p.Pro1148_Glu1149insTer	coding	Pathogenic
18	33743593	ATTA	TTT	A33743593T	ASXL3	NM_030632.3(ASXL3):c.3745_3748delinsTTT:p.Ile1249fs	coding	Pathogenic
18	33743595	TAAAG	T	A33743598C	ASXL3	NM_030632.3(ASXL3):c.3750_3753del:p.Lys1250fs	coding	Pathogenic
18	33743595	T	TAAAG	C33743602A	ASXL3	NM_030632.3(ASXL3):c.3750_3753dup:p.His1252fs	coding	Pathogenic
18	33743965	A	AAGAT	C33743972A	ASXL3	NM_030632.3(ASXL3):c.4120_4123dup:p.Ala1375fs	coding	Pathogenic
18	33744548	ATAAAT	A	T33744554G	ASXL3	NM_030632.3(ASXL3):c.4706_4710del:p.Lys1568_Leu1569insTer	coding	Pathogenic
18	33744736	CAAAA	C	A33744738G	ASXL3	NM_030632.3(ASXL3):c.4890_4893del:p.Lys1631fs	coding	Pathogenic
18	33745000	GA	G	A33745001G	ASXL3	NM_030632.3(ASXL3):c.5153del:p.Glu1718fs	coding	Pathogenic
18	33745663	AG	A	G33745667C	ASXL3	NM_030632.3(ASXL3):c.5819del:p.Gly1940fs	coding	Pathogenic
18	33745914	T	TCC	T33745920C	ASXL3	NM_030632.3(ASXL3):c.6070_6071dup:p.Pro2025fs	coding	Benign
18	34710675	A	AGT	A34710702G	DTNA	NM_001386795.1(DTNA):c.-2+231GT[14]	noncoding	Benign
18	34710675	A	AGTGT	A34710702G	DTNA	NM_001386795.1(DTNA):c.-2+231GT[15]	noncoding	Benign
18	34710675	AGT	A	G34710700A	DTNA	NM_001386795.1(DTNA):c.-2+231GT[12]	noncoding	Benign
18	34710675	AGTGT	A	G34710698A	DTNA	NM_001386795.1(DTNA):c.-2+231GT[11]	noncoding	Benign
18	34824932	TA	T	A34824953T	DTNA	NM_001386795.1(DTNA):c.1002-2640del	noncoding	Benign
18	34824932	T	TA	T34824954A	DTNA	NM_001386795.1(DTNA):c.1002-2640dup	noncoding	Benign
18	34824955	TAAATC	T	A34824958T	DTNA	NM_001386795.1(DTNA):c.1002-2635_1002-2631del	noncoding	Benign
18	34825063	A	AT	A34825074T	DTNA	NM_001386795.1(DTNA):c.1002-2520dup	noncoding	Benign
18	34877959	GT	G	T34877969G	DTNA	NM_001386795.1(DTNA):c.1993+161del	noncoding	Benign
18	34881852	T	TA	T34881860A	DTNA	NM_001386795.1(DTNA):c.2163-210dup	noncoding	Benign
18	34884531	GGA	G	G34884534T	DTNA	NM_001386795.1(DTNA):c.2296-194_2296-193del	noncoding	Benign
18	34884626	C	CTG	C34884632G	DTNA	NM_001386795.1(DTNA):c.2296-101TG[3]	noncoding	Benign
18	36138270	C	CT	A36138275T	ELP2	NM_018255.4(ELP2):c.293dup:p.Leu98fs	coding	Pathogenic
18	36187693	G	GGGCA	T36187701A	MOCOS	NM_017947.4(MOCOS):c.142+16_142+19dup	noncoding	Benign
18	36195234	ATTTATTTTG	A	T36195236G	MOCOS	NM_017947.4(MOCOS):c.143-21_143-13del	noncoding	Benign
18	36200298	CA	C	A36200299T	MOCOS	NM_017947.4(MOCOS):c.916del:p.Ile306fs	coding	Pathogenic
18	36205140	CCT	C	T36205146C	MOCOS	NM_017947.4(MOCOS):c.1088_1089del:p.Leu363fs	coding	Pathogenic/Likely_pathogenic
18	36215844	C	CA	C36215846A	MOCOS	NM_017947.4(MOCOS):c.1665dup:p.Pro556fs	coding	Pathogenic
18	36267044	C	CT	G36267053T	MOCOS	NM_017947.4(MOCOS):c.2514+199dup	noncoding	Benign
18	36268700	A	ATACAT	A36268703C	MOCOS	NM_017947.4(MOCOS):c.*17_*18insCATTA	noncoding	Benign
18	36512689	GC	G	C36512691A	FHOD3	NM_001281740.3(FHOD3):c.511+148del	noncoding	Benign
18	36512693	TAGGTAAAA	T	A36512694C	FHOD3	NM_001281740.3(FHOD3):c.511+151_511+158del	noncoding	Benign
18	36649176	G	GT	G36649178T	FHOD3	NM_001281740.3(FHOD3):c.1197-139dup	noncoding	Benign
18	36649179	G	GT	A36649192T	FHOD3	NM_001281740.3(FHOD3):c.1197-125dup	noncoding	Benign
18	36652860	TCTC	T	C36652863A	FHOD3	NM_001281740.3(FHOD3):c.1580_1582del:p.Ser527del	coding	Pathogenic
18	36681618	AG	A	G36681620C	FHOD3	NM_001281740.3(FHOD3):c.1970+50del	noncoding	Benign
18	36755397	CTTTTTTT	C	T36755419G	FHOD3	NM_001281740.3(FHOD3):c.4425+108_4425+114del	noncoding	Benign
18	36755397	CTTTTTTTT	C	T36755418G	FHOD3	NM_001281740.3(FHOD3):c.4425+107_4425+114del	noncoding	Benign
18	36755397	CTTTTTTTTT	C	T36755417G	FHOD3	NM_001281740.3(FHOD3):c.4425+106_4425+114del	noncoding	Benign
18	36755397	CTTTTTTTTTTT	C	T36755415G	FHOD3	NM_001281740.3(FHOD3):c.4425+104_4425+114del	noncoding	Benign
18	44949971	CA	C	A44949972G	SETBP1	NM_015559.3(SETBP1):c.632del:p.Gln211fs	coding	Pathogenic
18	44950668	TG	T	G44950669A	SETBP1	NM_015559.3(SETBP1):c.1329del:p.Met443fs	coding	Pathogenic
18	44951707	CCTGAGCCCTGCCAGCA	C	G44951712A	SETBP1	NM_015559.3(SETBP1):c.2372_2387del:p.Ser791fs	coding	Pathogenic
18	44952018	CTT	C	T44952021G	SETBP1	NM_015559.3(SETBP1):c.2681_2682del:p.Ser893_Phe894insTer	coding	Pathogenic
18	44953070	C	CA	G44953072A	SETBP1	NM_015559.3(SETBP1):c.3731dup:p.Ala1245fs	coding	Pathogenic
18	45063066	T	TC	T45063071C	SETBP1	NM_015559.3(SETBP1):c.4172-9dup	noncoding	Benign
18	45852280	A	AACACAC	C45852305A	EPG5	NM_020964.3(EPG5):c.*163GT[15]	noncoding	Benign
18	45852280	A	AACAC	C45852305A	EPG5	NM_020964.3(EPG5):c.*163GT[14]	noncoding	Benign
18	45852280	A	AAC	C45852305A	EPG5	NM_020964.3(EPG5):c.*163GT[13]	noncoding	Benign
18	45858871	A	AT	G45858883T	EPG5	NM_020964.3(EPG5):c.7010-100dup	noncoding	Benign
18	45860597	ATACT	A	C45860600A	EPG5	NM_020964.3(EPG5):c.6767-255_6767-252del	noncoding	Benign
18	45870788	TAA	T	A45870804G	EPG5	NM_020964.3(EPG5):c.6050-48_6050-47del	noncoding	Benign
18	45870788	TA	T	A45870805G	EPG5	NM_020964.3(EPG5):c.6050-47del	noncoding	Benign
18	45870788	T	TA	G45870806A	EPG5	NM_020964.3(EPG5):c.6050-63dup	noncoding	Benign
18	45876346	TAAAGA	T	A45876353G	EPG5	NM_020964.3(EPG5):c.5943-9_5943-5del	noncoding	Pathogenic/Likely_pathogenic
18	45879107	AG	A	G45879108C	EPG5	NM_020964.3(EPG5):c.5774del:p.Ala1925fs	coding	Pathogenic
18	45879177	T	TA	G45879185A	EPG5	NM_020964.3(EPG5):c.5704dup:p.Tyr1902fs	coding	Pathogenic
18	45880087	CAA	C	A45880088G	EPG5	NM_020964.3(EPG5):c.5653_5654del:p.Leu1885fs	coding	Pathogenic
18	45882403	TAAGTGCC	T	C45882409A	EPG5	NM_020964.3(EPG5):c.5382_5388del:p.Ala1795fs	coding	Pathogenic
18	45887837	T	TAAAGAAAAGGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A45887851G	EPG5	NM_020964.3(EPG5):c.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTTTCTTT:p.Thr1675delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer	coding	Pathogenic
18	45907920	TAA	T	A45907938G	EPG5	NM_020964.3(EPG5):c.4329+36_4329+37del	noncoding	Benign
18	45907920	TA	T	A45907939G	EPG5	NM_020964.3(EPG5):c.4329+37del	noncoding	Benign
18	45910705	G	GA	C45910712A	EPG5	NM_020964.3(EPG5):c.4020dup:p.Gln1341fs	coding	Pathogenic
18	45910745	T	TA	C45910752A	EPG5	NM_020964.3(EPG5):c.3984-9dup	noncoding	Benign
18	45912156	CAGAG	C	G45912158A	EPG5	NM_020964.3(EPG5):c.3983+130_3983+133del	noncoding	Benign
18	45928994	AG	A	G45928996T	EPG5	NM_020964.3(EPG5):c.2427del:p.Leu810fs	coding	Pathogenic
18	45929023	AG	A	G45929028A	EPG5	NM_020964.3(EPG5):c.2413-15del	noncoding	Benign
18	45939657	TG	T	G45939658T	EPG5	NM_020964.3(EPG5):c.2041del:p.Gln681fs	coding	Pathogenic
18	45948592	CA	C	A45948597G	EPG5	NM_020964.3(EPG5):c.1498-17del	noncoding	Benign
18	45950966	AAAG	A	G45950969A	EPG5	NM_020964.3(EPG5):c.1389+133_1389+135del	noncoding	Benign
18	45951461	AT	A	T45951477G	EPG5	NM_020964.3(EPG5):c.1253-224del	noncoding	Benign
18	45951461	ATTT	A	T45951475G	EPG5	NM_020964.3(EPG5):c.1253-226_1253-224del	noncoding	Benign
18	45954981	C	CTAGA	C45954982T	EPG5	NM_020964.3(EPG5):c.420_421insTCTA:p.Val141fs	coding	Pathogenic
18	45967161	TG	T	G45967166A	EPG5	NM_020964.3(EPG5):c.63+15del	noncoding	Benign
18	46084835	AAC	A	C46084837G	ATP5F1A	NM_004046.6(ATP5F1A):c.1430-183_1430-182del	noncoding	Benign
18	46084885	GT	G	T46084886C	ATP5F1A	NM_004046.6(ATP5F1A):c.1430-232del	noncoding	Benign
18	46086314	TAGTTAATATATTAATACCTTAAGA	T	A46086315T	ATP5F1A	NM_004046.6(ATP5F1A):c.1284+49_1285-58del	noncoding	Benign
18	46086734	TATA	T	A46086737T	ATP5F1A	NM_004046.6(ATP5F1A):c.1177-243_1177-241del	noncoding	Benign
18	46090085	T	TG	A46090094G	ATP5F1A	NM_004046.6(ATP5F1A):c.310-97dup	noncoding	Benign
18	46098367	CT	C	T46098368C	ATP5F1A	NM_001001937.2(ATP5F1A):c.-48-89del	noncoding	Benign
18	46477752	GC	G	C46477756A	LOXHD1	NM_001384474.1(LOXHD1):c.6541del:p.Ala2181fs	coding	Pathogenic
18	46477778	GGCATCAGT	G	A46477781C	LOXHD1	NM_001384474.1(LOXHD1):c.6508_6515del:p.Thr2170fs	coding	Pathogenic
18	46477865	GCT	G	C46477870G	LOXHD1	NM_001384474.1(LOXHD1):c.6427_6428del:p.Ser2143fs	coding	Pathogenic
18	46477936	CA	C	A46477937C	LOXHD1	NM_001384474.1(LOXHD1):c.6357del:p.Cys2119fs	coding	Pathogenic
18	46485045	AT	A	T46485049C	LOXHD1	NM_001384474.1(LOXHD1):c.6155del:p.Asn2052fs	coding	Pathogenic
18	46507615	ATT	A	T46507617C	LOXHD1	NM_001384474.1(LOXHD1):c.5613_5614del:p.Glu1871fs	coding	Pathogenic
18	46507652	ACAGC	A	C46507656T	LOXHD1	NM_001384474.1(LOXHD1):c.5574_5577del:p.Trp1858fs	coding	Pathogenic
18	46509777	A	AT	C46509779T	LOXHD1	NM_001384474.1(LOXHD1):c.5437dup:p.Ile1813fs	coding	Pathogenic
18	46518133	CTT	C	T46518135C	LOXHD1	NM_001384474.1(LOXHD1):c.5393_5394del:p.Lys1798fs	coding	Pathogenic
18	46524547	T	TGA	C46524548G	LOXHD1	NM_001384474.1(LOXHD1):c.4794_4795insTC:p.Ile1599fs	coding	Pathogenic/Likely_pathogenic
18	46524820	TC	T	C46524822A	LOXHD1	NM_001384474.1(LOXHD1):c.4627del:p.Glu1543fs	coding	Pathogenic
18	46529177	CG	C	G46529178T	LOXHD1	NM_001384474.1(LOXHD1):c.4529del:p.Thr1510fs	coding	Pathogenic
18	46529225	T	TCG	T46529229G	LOXHD1	NM_001384474.1(LOXHD1):c.4480_4481dup:p.Tyr1495fs	coding	Pathogenic
18	46533314	G	GTCCGTGGGCGATTATGAGAATGACTGCGCCGGTGAAGC	T46533317C	LOXHD1	NM_001384474.1(LOXHD1):c.4222_4223insGCTTCACCGGCGCAGTCATTCTCATAATCGCCCACGGA:p.Thr1408fs	coding	Pathogenic
18	46534420	A	AT	C46534427T	LOXHD1	NM_001384474.1(LOXHD1):c.4126dup:p.Ile1376fs	coding	Pathogenic
18	46538245	CG	C	G46538247C	LOXHD1	NM_001384474.1(LOXHD1):c.4005del:p.Val1336fs	coding	Pathogenic
18	46538328	TAAGGAAC	T	G46538331C	LOXHD1	NM_001384474.1(LOXHD1):c.3916_3922del:p.Val1306fs	coding	Pathogenic
18	46541942	TAG	T	A46541951G	LOXHD1	NM_001384474.1(LOXHD1):c.3749-12CT[4]	noncoding	Benign
18	46545362	CT	C	T46545363G	LOXHD1	NM_001384474.1(LOXHD1):c.3573del:p.Asp1192fs	coding	Pathogenic
18	46545365	T	TGCCCGCATTCTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A46545381T	LOXHD1	NM_001384474.1(LOXHD1):c.3570_3571insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGAATGCGGGC:p.Thr1191fs	coding	Pathogenic
18	46546933	TC	T	C46546934A	LOXHD1	NM_001384474.1(LOXHD1):c.3475del:p.Asp1159fs	coding	Pathogenic
18	46547004	C	CAGCT	G46547009A	LOXHD1	NM_001384474.1(LOXHD1):c.3401_3404dup:p.Ser1136fs	coding	Pathogenic
18	46547062	T	TG	T46547068G	LOXHD1	NM_001384474.1(LOXHD1):c.3351-5dup	noncoding	Benign
18	46557372	TGTCA	T	C46557375A	LOXHD1	NM_001384474.1(LOXHD1):c.3330_3333del:p.Thr1110_Asp1111insTer	coding	Pathogenic
18	46557458	AG	A	G46557460T	LOXHD1	NM_001384474.1(LOXHD1):c.3247del:p.Leu1083fs	coding	Pathogenic
18	46559569	T	TA	T46559570A	LOXHD1	NM_001384474.1(LOXHD1):c.3094_3095insT:p.Asn1032fs	coding	Pathogenic
18	46560230	C	CT	C46560233T	LOXHD1	NM_001384474.1(LOXHD1):c.2913dup:p.Glu972fs	coding	Pathogenic
18	46566404	TG	T	G46566406C	LOXHD1	NM_001384474.1(LOXHD1):c.2289del:p.Ser764fs	coding	Pathogenic
18	46577768	TG	T	G46577769T	LOXHD1	NM_001384474.1(LOXHD1):c.1908del:p.Asp636fs	coding	Pathogenic
18	46577770	TC	T	C46577772A	LOXHD1	NM_001384474.1(LOXHD1):c.1906del:p.Asp636fs	coding	Pathogenic
18	46577793	GC	G	C46577795T	LOXHD1	NM_001384474.1(LOXHD1):c.1883del:p.Gly628fs	coding	Pathogenic
18	46592048	CA	C	A46592049G	LOXHD1	NM_001384474.1(LOXHD1):c.1538del:p.Leu513fs	coding	Pathogenic
18	46592279	G	GC	A46592286C	LOXHD1	NM_001384474.1(LOXHD1):c.1518+213dup	noncoding	Benign
18	46594394	CTT	C	T46594396C	LOXHD1	NM_001384474.1(LOXHD1):c.1205_1206del:p.Lys402fs	coding	Pathogenic
18	46601372	TA	T	A46601373T	LOXHD1	NM_001384474.1(LOXHD1):c.978del:p.Asn326fs	coding	Pathogenic
18	46601431	AC	A	C46601432A	LOXHD1	NM_001384474.1(LOXHD1):c.919del:p.Val307fs	coding	Pathogenic
18	46601433	ATCCC	A	T46601434C	LOXHD1	NM_001384474.1(LOXHD1):c.914_917del:p.Gly305fs	coding	Pathogenic
18	46610778	GGGACA	G	C46610782A	LOXHD1	NM_001384474.1(LOXHD1):c.752_756del:p.Leu251fs	coding	Pathogenic
18	46610851	CGGGGCATCCA	C	G46610854A	LOXHD1	NM_001384474.1(LOXHD1):c.674_683del:p.Leu225fs	coding	Pathogenic
18	46639657	C	CG	C46639660G	LOXHD1	NM_001384474.1(LOXHD1):c.469dup:p.Arg157fs	coding	Pathogenic
18	46639699	TTGCAG	T	G46639701T	LOXHD1	NM_001384474.1(LOXHD1):c.423_427del:p.Asn141fs	coding	Pathogenic
18	46649170	A	AG	C46649172G	LOXHD1	NM_001384474.1(LOXHD1):c.229dup:p.Leu77fs	coding	Pathogenic
18	46656907	TGGCCTTGTAGTACTCGTGTTCCAGCTCCCCCTCGTCGTCCTCCGAGGCGTAGTTCAGCAGCTCCGCTTCGTACAGGGCCAGGAAGTCGATGTCCTTCTTCCTCCGCCTTTTCTTCTGGGGCATCATTCTGTCGGCTGCCTTCTCCCAGCGCTCGCAGGCTCACTGTGCCGCCTCCTCACACCTGCGGGAACCTGAGACCTCCTCCCTGAGCTCTGGCGCCCACGGCCCTCCTATAGCTCAGGCCTGGGTGGGCCAGAGTGCCCCGTTTTCTTGGCTTCCCCGTGCCCAAGGTGCTGTTCCCTCTGCCTTCTCTGGCTCCTGAGCTGAACCTCAGTGCCTTATCTCTGAACCTCCTGTCCCTGTCCCCTCCCACCACCCTCTGGTGAGCCACCTCCTCCTCCTCTGTACCTGCCCCGGGGCTTCTCTTTGGGCCTCATCACTTATTCATGGCGCTGAGG	T	G46656909C	LOXHD1	NC_000018.9:g.44236871_44237328del	coding	Pathogenic
18	46656962	CA	C	A46656963G	LOXHD1	NM_001384474.1(LOXHD1):c.71del:p.Leu24fs	coding	Pathogenic
18	46656987	AG	A	G46656989A	LOXHD1	NM_001384474.1(LOXHD1):c.46del:p.Leu16fs	coding	Pathogenic
18	46657000	CCTT	C	T46657005C	LOXHD1	NM_001384474.1(LOXHD1):c.28AAG[1]:p.Lys11del	coding	Benign
18	47156242	GA	G	A47156252G	IER3IP1	NM_016097.5(IER3IP1):c.194-11del	noncoding	Benign
18	47157273	GA	G	A47157289C	IER3IP1	NM_016097.5(IER3IP1):c.193+162del	noncoding	Benign
18	47157273	G	GA	C47157290A	IER3IP1	NM_016097.5(IER3IP1):c.193+147dup	noncoding	Benign
18	47848696	G	GA	T47848704A	SMAD2	NM_005901.6(SMAD2):c.785-10dup	noncoding	Benign
18	47848704	T	TA	T47848712A	SMAD2	NM_005901.6(SMAD2):c.785-18dup	noncoding	Benign
18	47865048	A	AT	A47865057T	SMAD2	NM_005901.6(SMAD2):c.730+3dup	noncoding	Benign
18	47865048	AT	A	T47865056A	SMAD2	NM_005901.6(SMAD2):c.730+10del	noncoding	Benign
18	47868365	T	TA	G47868367A	SMAD2	NM_005901.6(SMAD2):c.612dup:p.Asn205Ter	coding	Pathogenic
18	47868472	GA	G	A47868475T	SMAD2	NM_005901.6(SMAD2):c.521-16del	noncoding	Benign/Likely_benign
18	47869474	TAA	T	A47869491G	SMAD2	NM_005901.6(SMAD2):c.327-40_327-39del	noncoding	Benign
18	47869474	TA	T	A47869492G	SMAD2	NM_005901.6(SMAD2):c.327-39del	noncoding	Benign
18	47869474	T	TA	G47869493A	SMAD2	NM_005901.6(SMAD2):c.327-56dup	noncoding	Benign
18	47896567	CT	C	T47896570C	SMAD2	NM_005901.6(SMAD2):c.189del:p.Ala64fs	coding	Pathogenic
18	49163758	TTG	T	G49163762T	DYM	NM_001353214.3(DYM):c.1653_1654del:p.His551fs	coding	Pathogenic
18	49163762	G	GT	A49163769T	DYM	NM_001353214.3(DYM):c.1650dup:p.His551fs	coding	Pathogenic
18	49163887	AT	A	T49163888A	DYM	NM_001353214.3(DYM):c.1626-101del	noncoding	Benign
18	49272004	T	TG	A49272007G	DYM	NM_001353214.3(DYM):c.1251+172dup	noncoding	Benign
18	49272006	G	GA	G49272024A	DYM	NM_001353214.3(DYM):c.1251+155dup	noncoding	Benign
18	49272206	TC	T	C49272207A	DYM	NM_001353214.3(DYM):c.1222del:p.Asp408fs	coding	Pathogenic
18	49272250	ATG	A	T49272251G	DYM	NM_001353214.3(DYM):c.1177_1178del:p.His393fs	coding	Pathogenic
18	49282158	AG	A	G49282162A	DYM	NM_001353214.3(DYM):c.963del:p.Ser322fs	coding	Pathogenic
18	49331715	ATATTT	A	T49331718A	DYM	NM_001353214.3(DYM):c.763+144_763+148del	noncoding	Benign
18	49331918	G	GGAAA	A49331923G	DYM	NM_001353214.3(DYM):c.705_708dup:p.Pro237fs	coding	Pathogenic
18	49332019	G	GA	T49332029A	DYM	NM_001353214.3(DYM):c.621-14dup	noncoding	Benign
18	49363209	T	TC	A49363212C	DYM	NM_001353214.3(DYM):c.445dup:p.Glu149fs	coding	Pathogenic
18	49363254	A	AT	A49363264T	DYM	NM_001353214.3(DYM):c.422-30dup	noncoding	Benign
18	49378619	CT	C	T49378620C	DYM	NM_001353214.3(DYM):c.368del:p.Glu123fs	coding	Pathogenic
18	49391795	AG	A	G49391796T	DYM	NM_001353214.3(DYM):c.141-151del	noncoding	Benign
18	49837749	TG	T	G49837752C	MYO5B	NM_001080467.3(MYO5B):c.4905del:p.Thr1636fs	coding	Pathogenic
18	49872219	TG	T	G49872220T	MYO5B	NM_001080467.3(MYO5B):c.3550del:p.Gln1184fs	coding	Pathogenic
18	49872524	GC	G	C49872531A	MYO5B	NM_001080467.3(MYO5B):c.3538-293del	noncoding	Benign
18	49875721	TC	T	C49875723A	MYO5B	NM_001080467.3(MYO5B):c.3502del:p.Glu1168fs	coding	Pathogenic
18	49877503	A	AT	C49877505T	MYO5B	NM_001080467.3(MYO5B):c.3396+259dup	noncoding	Benign
18	49895396	TTCAAAGAGC	T	A49895401G	MYO5B	NM_001080467.3(MYO5B):c.2812-231_2812-223del	noncoding	Benign
18	49902295	G	GTGA	T49902297G	MYO5B	NM_001080467.3(MYO5B):c.2811+298_2811+299insATC	noncoding	Benign
18	49906502	TC	T	C49906506G	MYO5B	NM_001080467.3(MYO5B):c.2330del:p.Gly777fs	coding	Pathogenic
18	49906570	A	AGGCC	A49906575G	MYO5B	NM_001080467.3(MYO5B):c.2259_2262dup:p.Tyr755fs	coding	Pathogenic
18	49929435	C	CA	G49929437A	MYO5B	NM_001080467.3(MYO5B):c.2090+76dup	noncoding	Benign
18	49937289	T	TG	T49937296G	MYO5B	NM_001080467.3(MYO5B):c.1860dup:p.Met621fs	coding	Pathogenic
18	49962692	A	AG	A49962693G	MYO5B	NM_001080467.3(MYO5B):c.1404+256_1404+257insC	noncoding	Benign
18	49962705	A	AG	A49962706G	MYO5B	NM_001080467.3(MYO5B):c.1404+243_1404+244insC	noncoding	Benign
18	49962989	A	ATTACAGAAC	A49962991T	MYO5B	NM_001080467.3(MYO5B):c.1363_1364insGTTCTGTAA:p.Cys454_Ile455insSerSerVal	coding	Pathogenic
18	49963005	AG	A	G49963006C	MYO5B	NM_001080467.3(MYO5B):c.1347del:p.Phe450fs	coding	Pathogenic/Likely_pathogenic
18	49980390	A	AAGCTGT	A49980392G	MYO5B	NM_001080467.3(MYO5B):c.1056+53_1056+54insTACAGC	noncoding	Benign
18	49980557	G	GA	G49980562A	MYO5B	NM_001080467.3(MYO5B):c.947-5dup	noncoding	Benign
18	49980630	A	AT	A49980642T	MYO5B	NM_001080467.3(MYO5B):c.947-88dup	noncoding	Benign
18	49980818	AC	A	C49980819T	MYO5B	NM_001080467.3(MYO5B):c.947-266del	noncoding	Benign
18	50001052	CTCT	C	T50001053A	MYO5B	NM_001080467.3(MYO5B):c.612+200_612+202del	noncoding	Benign
18	50037251	TA	T	A50037263T	MYO5B	NM_001080467.3(MYO5B):c.311-258del	noncoding	Benign
18	51030711	A	ACGG	T51030734G	SMAD4	NM_005359.6(SMAD4):c.-128+89CGG[8]	noncoding	Benign
18	51047067	GA	G	A51047069T	SMAD4	NM_005359.6(SMAD4):c.23del:p.Asn8fs	coding	Pathogenic
18	51047153	CA	C	A51047158G	SMAD4	NM_005359.6(SMAD4):c.112del:p.Arg38fs	coding	Pathogenic
18	51047268	AC	A	C51047269A	SMAD4	NM_005359.6(SMAD4):c.223del:p.Gln75fs	coding	Pathogenic
18	51047279	T	TGGATG	G51047288T	SMAD4	NM_005359.6(SMAD4):c.237_241dup:p.Arg81fs	coding	Pathogenic
18	51048698	A	AAAGGATTTCCTCATGTGATCTATGC	C51048724A	SMAD4	NM_005359.6(SMAD4):c.263_287dup:p.Leu98fs	coding	Pathogenic
18	51048751	CA	C	A51048756T	SMAD4	NM_005359.6(SMAD4):c.320del:p.Asn107fs	coding	Pathogenic
18	51048767	CAT	C	A51048768G	SMAD4	NM_005359.6(SMAD4):c.332_333del:p.His111fs	coding	Pathogenic
18	51048770	GTTAAATA	G	A51048773G	SMAD4	NM_005359.6(SMAD4):c.337_343del:p.Lys113fs	coding	Pathogenic
18	51048783	AGT	A	G51048784A	SMAD4	NM_005359.6(SMAD4):c.348_349del:p.Tyr117fs	coding	Pathogenic
18	51048806	G	GAT	G51048810T	SMAD4	NM_005359.6(SMAD4):c.372_373dup:p.Ser125fs	coding	Pathogenic
18	51049559	TA	T	A51049566T	SMAD4	NM_005359.6(SMAD4):c.454+242del	noncoding	Benign
18	51054796	TG	T	G51054798T	SMAD4	NM_005359.6(SMAD4):c.472del:p.Met157_Val158insTer	coding	Pathogenic
18	51054804	G	GA	T51054806A	SMAD4	NM_005359.6(SMAD4):c.479dup:p.Asp160fs	coding	Pathogenic
18	51054887	TA	T	A51054889T	SMAD4	NM_005359.6(SMAD4):c.563del:p.Asn188fs	coding	Pathogenic
18	51054909	T	TA	C51054911A	SMAD4	NM_005359.6(SMAD4):c.584dup:p.Tyr195Ter	coding	Pathogenic
18	51054944	TA	T	A51054946T	SMAD4	NM_005359.6(SMAD4):c.620del:p.Asn207fs	coding	Pathogenic
18	51054958	C	CT	G51054960T	SMAD4	NM_005359.6(SMAD4):c.633dup:p.Ala212fs	coding	Pathogenic
18	51058143	TG	T	G51058149C	SMAD4	NM_005359.6(SMAD4):c.692del:p.Gly231fs	coding	Pathogenic
18	51058168	GTTGCAGA	G	T51058170A	SMAD4	NM_005359.6(SMAD4):c.713_719del:p.Leu237_Leu238insTer	coding	Pathogenic
18	51058170	T	TG	C51058172G	SMAD4	NM_005359.6(SMAD4):c.714dup:p.Gln239fs	coding	Pathogenic
18	51058192	GC	G	C51058194A	SMAD4	NM_005359.6(SMAD4):c.737del:p.Pro246fs	coding	Pathogenic
18	51058235	T	TA	C51058237A	SMAD4	NM_005359.6(SMAD4):c.779dup:p.Tyr260Ter	coding	Pathogenic
18	51058259	T	TA	T51058266A	SMAD4	NM_005359.6(SMAD4):c.787+21dup	noncoding	Benign/Likely_benign
18	51058411	C	CAGAT	T51058413G	SMAD4	NM_005359.6(SMAD4):c.860_861insGATA:p.His287fs	coding	Pathogenic
18	51058453	T	TA	C51058455A	SMAD4	NM_005359.6(SMAD4):c.902dup:p.Tyr301Ter	coding	Pathogenic
18	51058457	G	GGCCTGTTCACAA	T51058458G	SMAD4	NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA	coding	Pathogenic
18	51058467	G	GT	G51058473T	SMAD4	NM_005359.6(SMAD4):c.904+16dup	noncoding	Benign/Likely_benign
18	51058485	A	ATT	G51058502T	SMAD4	NM_005359.6(SMAD4):c.904+44_904+45dup	noncoding	Benign
18	51058485	A	ATTT	G51058502T	SMAD4	NM_005359.6(SMAD4):c.904+43_904+45dup	noncoding	Benign
18	51059875	AC	A	C51059876A	SMAD4	NM_005359.6(SMAD4):c.915del:p.His305fs	coding	Pathogenic
18	51059876	CA	C	A51059878T	SMAD4	NM_005359.6(SMAD4):c.917del:p.Asn306fs	coding	Pathogenic
18	51065481	A	AT	A51065485T	SMAD4	NM_005359.6(SMAD4):c.1017dup:p.Lys340Ter	coding	Pathogenic
18	51065484	T	TA	G51065487A	SMAD4	NM_005359.6(SMAD4):c.1019dup:p.Val341fs	coding	Pathogenic
18	51065591	C	CCATT	G51065596C	SMAD4	NM_005359.6(SMAD4):c.1125_1128dup:p.Glu377delinsHisTer	coding	Pathogenic
18	51066049	GT	G	T51066052A	SMAD4	NM_005359.6(SMAD4):c.1139+446del	noncoding	Benign
18	51067037	T	TTG	G51067038T	SMAD4	NM_005359.6(SMAD4):c.1158_1159insTG:p.Val387fs	coding	Pathogenic
18	51067052	T	TA	G51067056A	SMAD4	NM_005359.6(SMAD4):c.1176dup:p.Gly393fs	coding	Pathogenic
18	51067115	CTACT	C	C51067118G	SMAD4	NM_005359.6(SMAD4):c.1239_1242del:p.Tyr412_Tyr413insTer	coding	Pathogenic
18	51067118	CT	C	T51067120A	SMAD4	NM_005359.6(SMAD4):c.1241del:p.Tyr413_Leu414insTer	coding	Pathogenic
18	51067167	T	TA	C51067169A	SMAD4	NM_005359.6(SMAD4):c.1289dup:p.Tyr430Ter	coding	Pathogenic
18	51067279	TTTATATA	T	T51067283A	SMAD4	NM_005359.6(SMAD4):c.1308+96_1308+102del	noncoding	Benign
18	51076668	A	ATGCAGCAGCAGGCGGCTACTGCACAAGC	T51076706A	SMAD4	NM_005359.6(SMAD4):c.1349_1376dup:p.Ala460fs	coding	Pathogenic/Likely_pathogenic
18	51076701	G	GC	A51076703C	SMAD4	NM_005359.6(SMAD4):c.1373dup:p.Ala459fs	coding	Pathogenic
18	51076737	C	CCTGG	C51076743T	SMAD4	NM_005359.6(SMAD4):c.1410_1413dup:p.Pro472fs	coding	Pathogenic
18	51076741	G	GC	A51076745C	SMAD4	NM_005359.6(SMAD4):c.1415dup:p.Gly473fs	coding	Pathogenic
18	51078301	T	TA	T51078303A	SMAD4	NM_005359.6(SMAD4):c.1494dup:p.Cys499fs	coding	Pathogenic
18	51078315	A	AATCC	T51078316A	SMAD4	NM_005359.6(SMAD4):c.1507_1508insATCC:p.Met503fs	coding	Pathogenic
18	51078319	GT	G	T51078323G	SMAD4	NM_005359.6(SMAD4):c.1515del:p.Phe505fs	coding	Pathogenic/Likely_pathogenic
18	51078329	AG	A	G51078331C	SMAD4	NM_005359.6(SMAD4):c.1523del:p.Gly508fs	coding	Pathogenic
18	51078355	AG	A	G51078356A	SMAD4	NM_005359.6(SMAD4):c.1548del:p.Ser517fs	coding	Pathogenic
18	51082218	A	AT	C51082228T	SMAD4	NM_005359.6(SMAD4):c.*3760dup	noncoding	Benign
18	52340813	GGGTACCCAAGCTGGCTTTTGTACTCTTCGGAGCTTCCTTGTTCAGCGCGCATCTTCAAGTAACCGGTAAGTGGCTCTTTCCTTTCTTCTCGTCGCACCCCCTTCCGTACCCCACTTCCCTTCTCATTTCATTTGGCGAGTAGTAGAATTGGGGTGGGGGATAGCAAGAGATTTGGCGCTTGCGCTGCCCCCATTTGCGCACCGATGATAAAAGATAGAAGAGTTTTTTTCTTCCCTGGGGGCGGATGATGGTGGGGGGGTGGTACAAGGGGCGCCCCTTCGCTGTTTTAAAATCTGATGCTTCACGCATTTTTGCTTCTGCAAATACTTGGGTTGGTTTGGAGAGCCGGCGGGCTGGGGCAGGTGCTGGGGATATCGTTGAAAGGAACTGGGCTGGGTCCTTAAAGCCCCAGAAACCTACCAAGTGGGGAGGATTGGGGCAACAGGAGCAGGCGAGGAGGACATCCAGGGGCTTTGAGGAAGTCTGCGCAGAATGTAGATGGTGGGGCTGAGTCGTTGGTGTGTGAATACATCTCCTTTTGGTTTGGATTTTTGGACTTGGTGATTGAGAATAGGGAAAGGGACAGCTAATATGTTTTGGTACTTCCAAGGAGGGGATCCTGGTACTGAAGGAGGCACAGAGTTGCCAAGGAGGAGGGGAGGTGTGTTTAATATTGTTTTATTTTTTAACGGTGAATGTAGTTCGCAAGCTGAGTCTCCATATAGCTCCAGGACACCTCCAAACTCCAAGTGATTGATATTCCAGAGAACCGGCGCCCTGACCCTGGCACTTGCCTAGCTCAGTTTCTAATTAAAAATGGCAAAACTGTTTGGGGATTGGATCTGGCTAGTGCAGGAGAAAGAGGGACCTGGAGGCTGGCTGATCAGGACTGCTGTAATCTCCGAATACGGAGCTGGCGGCTTCGACGGCCAAAAGAATAGAAAAGAGCAAAATGACTCATGATAAGGTCCACTTGTTTTGCGGGACCTCACCGCAAGTGTAGATGGGCACTGGGGTACAGTGAGCGGTCCTGGCAAAGAAGGAGAGGAGAGCGGCTGGATGAGCATTCAGAGAGCCCTTCGGAAACGACCTTTTTCCAAATCCAAAGGAAAAACAGGCTCAGGCAGAGACCGGGCGTTGAGTAGGAGCTCCCCAGTTCGTGCCTGGGAAATTAACAGGGAATGGCACATCAATCGCGGCCAAGCCCCCAGCCTCCCCGGAGTCCGCAGCTCCGGCTTTCTCTTCTCTGCTAAGTGCTGCATGGCCAAGGGTTGCGAACGCGAGCAGAAAATGCGCCTCTCACTGTCGCGAGGGATTCAGACAGTCAAGCGCCAAGGCAGCCCGAGGCTCCCCAAAGCCTCGCTCGGCCGCACGCGGGCAGGAATCTGCGCTTGCACTCGGGCTCAGCTCCTCATCTTCCTTTGGCCAGAGACAGAGAGAGCAGGCAGGAGGGGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGCACGCGCGCTGTCCTGTGATGAGCGCGTACCCGCATCCCCGCGCTTAGCCGCTGGTGCTCCCTCCCTCCGTCTGTCCCTCCCGGGCCGGTCCCCTCCTCCCCTGGCTCTTCTCTCCCGGAGCTTTGTCCTCAACAATTACTCTCGCAAAAGGTGGGTGGGGGTGGGGGGGTGGGCATCTCCACAGTAATGAATAGGTGTCTGTTTTAAATTGCCTCCTCGAGACCCTCAAATGCTAGAGGCTGCGGGGAGGAGGACCCTCCTTCTGCCCAGAAGATTGACTTGGGCTTTCTATAGCAGTTTGGGAGACCTATGCGGACGGGAAAGGGGAAGTTCAGGGGGCATCCCTTACTGGGTAGAAAGTCTGCCTAACAGCAGCACTGCTGACCTGAAATGTGCTAGCTGAATGCACTGCATGAAGCAAGGTGTACAAAAATGAACAATGATGTCTTGTCAATTACACGACAGTATTTTAAAGCTATTACTCAAGTGACTTTTGTCTGGCATAGGGTGGGGGTAGATTAATAGAGATAAATTTATGTGCGTTTTATTAATGTCTAAATTAATTAAATATTCTCTTTGCATTTATTTACATTTCTTGTCCAGAGAGTCAGGGCCATGTATTACTGCTTCATTTTAATTTTCTCCTCAACAGACAGATCTATGCTTGAAAAAGCAGATGTAAGGAAGGGATACATACACACACATACACATGGGTTATGTTGGTGGATAGGCTAACGGATCTAAATCTTTAAACTTTTCTGCACTTCTAAATCTATATCTGTTATTTGCAAGTGAGTCGTGATGCAGTTTGCGCAGCTCGCAGGAAAGTGGATGGTGCATTTTTAAGATATTGCCAATTCACAACACTCTGGCCTTTGCTCATTAATCTGAGTATCACTTCTTTCTCTTAGTAATAATTTCCCCTGTTTAGGAACATGGCAGGAAACTTACAACGAGAAAGCATAGTTCACTCTATAAAAGGACCAGTAGGAGGTGCCCTTAATAAGGCCAAGTGTCTAGTTTACTGGCAGAGAAATTCCCATTCAGCCGGGTGTTTTAAAGACTTTGTTGATTGGTAACAAAGGATTATGGAGACTAGCACAATAGCACTGGGCCCTTTCCCACTTTCTAGGTAAAGTCTGAAGCTGCTGTAGATTTGTATGAAACTGTGATGATTTAACAAAGGACAGCCCTGAAAAGTGTCAGTAGAGAGTGAGGACTTGATGTTGGGGGAGGAGGATGGTGACTTTTTAGTTGGCTTCTGTAAGATGTCATCTTCTTATATATTTGACATGAGCCACAGGCACAGGAACCTTATAGAGTCTCAGGGGATCTCAGATAAGATAACAATTTTGGATGTTGGATGTTAATGAGTGAAAAATGAGGCATACATATTAATTAATTCTTCATACATGTTTGGGTTCCATTGCATTGAAAAAAATCTGTGAGTGTTTAATGTAGTCTGGATATGCTGAAATGAGGCTGGTCGCCCTCCCTAGGCGACCTCTTCTCATTCCCCCAACCAAAGCAGATCAGATGCCCCCATGTGGGTTTGCTTTTGAGTGGCGGGAGTATGGCAGAGCCTGAGGGCTCGGGGTAGGCTGGCAGTCCACTCCTCTGTGAGTGCCGCAGTATAAATCACCAGTACCTGTCAGTGTCCATTTCCCACACAGCAGCAGCTGCCCTCTGAGTTATAAAGCATGGGAAACGGCCACCACATGTGTTATATGTGAATATATTAGGCTTAGTGCCTTTGCTTTAATGCTCTTAAAAGCCAGGCTGGCTTGAGATGCTGATAGGCATTTTTTTCTGGGGAGAGATTTATAACTTCTCAGTGTGTATGACTTAAATTTATTCTCTGGCAAGTTAACCTCTTAGCAAACTTCCTTATTGTTTTCATTGAAGAGGAAGAGCCTTAATCCTACCTAAATTCCTGAATGAAGCTCTGCTGAAAGTTTCTGCTAGAGTACAGGATATTTGCAGGCTGTAGTATGGTTTCCTAAACCAATGGGAAGCTTGACAAGATATATGGGGAGGTGATTTTTTGGTGGGGAGGCGGGGATATTTTTACTTGTTTTTAGAGAGGGAAGTTGTGATACTGCATCTTCTAAAGGAATTCTAGCAACTCAGTTATCTCAAAAGCATCTTTAATGAGAGGAAATGTTTCTCGCTTCCAGTTTCATACATCTAACAGTCTGGGATTCTTCAAATGCATATAATATGCTCCTGGAATGTTTGCAGCTGCACGCAGTAGGGTCATCTAGCAGGATCACTGTCATTTGGAAATGAGCCCTGATTTAAATTTTGACTTGCAGACAAAACACTTATCTTTACCTGGTGCGGCATGTTTAAAAGCAGTGCTGAAGTTTCTGAACAGAATATTTCTTTCCATGGGAGACTGTGCCCTAAGATTACATTTTAAAGTAAGTGTTCTTACCATTTCTTTGGAGAATTTGCCATCCCAAACTTTGCATGTGAAACTTCTTCTTCATGATTCTACCAGTAAAGATAACTATTTAAAGAGAATGCAGTTGTTTCCGGGTATTTCTTTAAAATTAAAATTCAATGTCCACATCCACACACAAACAAGGAGGATTTCCACCCCCTCATACCTTCTCCTTCAAATAGCTGACTTTGGTGTGAATTATGATAGCTCTAATTACATAAGGGCACTTGCAATTTCCCTAGAGAATGAGTTCTTGCCTGATTACAGATCTTCCTACTTTCCATAGGAAGTTTCTGGCCCACACTACTATCAGAAACTTGCACCAAATTGGGAACACATTGCTCTGTTTTGGTATTTGCTACCCAGCTATACATTTTTGAAGGATTAATCTACCTCAGATGATAATCTCTTAGATGAACTATATACATAAATTTCAAGAAATCTTAGCTTTGCCTGAGGCCAAAGAATAATGTCACAAACCTGCTGAAATTACTTGATTAATTGATTGATTAACTAAGGATAAAAAGTCACTTGGTTCTGGAAAAGTACTGTACTCCCTAAAGAGTTCTAAAGAGGAATAGTAAATACTATGCACATTTACAATTCATAAAATGTAAACGTCAAGTCTTCTTCCCCCTCTTTTTCCATTCCTTCCTTATAATGCTCTGGAGGAAAATTTAAGAGTTTCATGAGTTGTCACAACAGTTATATCTTAAGGAATCATAGCTTGGAATCTCACTAACTCATGATTAATAGACACTCAATTAAATAGCAACACAATGTCCGGTGAATTTTTCGGCAGCCTGCTGTGGGCTGCTTGCTTGTTTTCAGCTCGTTTCTAAGGAATCAAAACTCTCATCTCTAAGAGGTGTGGCATCAATACTGCCTCCCTTGACGCAGCCCAAGAAAGCCTTTCTCACTCTGAAACCAAGGCTGTGACCCACAGGCACTGTGTTTAATATGCTGTGTTCCACTTTGCAAGGTCAGGGGGATTTGCCTTAAAAATAAATTTTTAAATGTTCATGCATGCTGCTTTTGGTGGAGAGTTAAACTGTACTCTAAAAGCAGCTAAATAGTGTTGTTATCTTAAGACATTCTAACTTGTGGCCTCTCAGCCAATATTATTGAAGTTCTAGAGCTCACAATCTTTAAGAGAGACAGGAGTGAGCTCTATAAGATAATAGGTTATGCCAACCTAGTTAAGCTACTTTTTTCCCCAAAATGGTGTTACCAGGTTGGAATAATAGAACGTTAACCTTTTTCAAAGTTACTACTTTTCAGAGGAAAAAACATTTCTTAATAATATCATAATATCAGTAGCATGGGACTGACCCAATGTATTTAAGATATTGTTCTTCAAAACAAGATATCAAGGAAAGCCAGTGTTAAACTTGTCAAGAAGAAAGGATGAACAATCCAGATTATTTTCCCTGCAGGCCAATAAAAAATGTGCAAGATAGAATTACATGTTGCATATGCCAAATAGGTAATAGCAAAAAATAAAATGTAAAGTATTATGCACCTTTATCATTGCAGGACTCAGGTAAATGAAACACAATTTAGTAACACACTTTTTCTTTCTCTCACTCTAGAATGTTAATTCCTTATCTTATATTTCTCTGGTTTAACTCCAAACTAAGATGGAGAAATACAGGTTGGCTGACTGATGATCAAAATTATTATAGTGCTCCAAAGTTATTTGACAAATTTTAGCCTGAGGTTTAACAACTAAATCCCTTTAATTCAACTATTAAGTGAAAGTGTTTTCTTTGGTAGTTTAGAAATACCTGAGCTTTGTCCCAATGGTGTGGTTTAGAAATACATAATAATGCATAAGATTGAATATGCCTTCTTTTTCAATATTGATGGGAATTTGCCAATGGTAATACCAGTGCATATTGCTCTTTTATTAATAGTTCCAAACAACCATATTATTCACAGCTTTCATTTCTTGGGGGGAAAAGTTCAAGTAGGAAACACACAAATCATTCCATATTTATTGATCATATTTTTAAGGCTATTCTTATGGCATGACTTCTGTAGGAATGTTTCTCTTTTCTAGTAAATTCCACGAGCCCAGTGTCTATGATCTACTTCTACTTCGTGATATACTTTAGCTTAATTTCACTAATCCAAATTTTTTGACTTTTAGCTTGCTCAGTCATTTCACCATGGCCCTCCAGGGAGGAAGACCCTTTAAAACCATTTGTGGTTATGATGATGAAACTTAACAGGAGTATTTATTGCAATTTGGAGATTTCTTCCTGGTTCATCCTTTAAATATTGGTTCTTGCCTGAAGGCTACTCCTAAGAGTATCTAGGACAAACATGTTCCACTGAATTAACTGAATCTTTAGGATGTTATCTGATGAAAATACCAACTGGTTAGTGAATTGTGTTCTGATAAGAGGACTTGTCAATACAACATTATTCTGGGCCATCTACAATGTTCTTAAATCTGTGTTTACATTTTGACAAGAGAAAAAAGAAGTTAAGCAGTTAATATAAATGTTTTTAACTCAAATCACATTTTTAGATTTTACTTATTTTTCTATAGTCTTTTAGAAATATTTCTCCACTCACTTAGCTGCCTCTTTAAAAGTATGTAGAACATAATTTAACCTGTTCTTAATAGATACAATACATCACTATGACTTCATTATAGTATTATGTGATTTTATAGGGATAATTTTTGAAGGCATTGCATCATACAGAACTGTTTATTTTTCCCATCAATTGACCATGGACTGTTACTATTGTTGAGTTTTATCTCTGGCTATAAAATATATTTTGTCTACATCTTGTGTTCAGCTGAAACTTCTCCCTGTATAAAACTTCCTCAAAGCAGTTCTCTCTTTTAGTTTTGATGTTAAGACATAGGGGACTAAGTTTTGTTGGGGTTGTGTTTAAAGTAGGAGAGGAGATTAGAAAACAGCACCTGAATCCCTTATTAGAGGAATATCTAATTAGTTTTAACTAATGATTCTGTAGCATCTGATATTAATTTGGATGTCACTTGTACTTTGTACAACGTATTTTTCCTTATTAAATGAGAATGTGGACTAGATCAACTCTAGTTATTAGTTTCAACACTATATAATTTATTTAAATTATGAACTGTACTATACATATAGTGTTTGGTATAATTAATAATACAATTCATGATCATGATAACAATAATAATAATGTAATAATAACAAATACCCATGTACCCACTAGCAGTTTTCTGATTTTTGTATTAACCCCTTGCCTTTTGTACAGTTTTTCCACATATGTATACATCTTTAACATGTTACTTTACTTGGCTGTTCTTAACAGTAATAAAATAAATATAATGTGTATATTCTCTGACTTGCAATTTTGCTGAACGTTAAGTATCTGAGTTTCATCTATGTGGATTCATATTGCTGTATTTCAGTCACTTTCTCTGGTGTATAATACTTCATGATATTAATTAACCATAGTTTATCTAATCTATTGTTGATGGATTTTGAAATTCAGTTTTTTGCTATTGCTAGTAAAGTTGGCATAAACATTCTGGTGCATGTCCACCAGCACAAATTTGCCACCATGTTTAGGGTGCATACCTAGGAGTGGAATTGCTGAGTCATAGAAGGGTATCTTTTCATCCGGGAGGCAAAGACATGTTGCAGTTACTGAAACCCCCACCAGGGGCAGATGAAAGGCCTCTTTGCTTCATGCCTCTGCCAACACTTGGTATTTTCATATGCTTAATTTGCCCGCATCT	G	C52340818A	DCC	NM_005215.4(DCC):c.31_91+7622del	coding	Pathogenic
18	52925327	TA	T	A52925332T	DCC	NM_005215.4(DCC):c.947del:p.Asn316fs	coding	Pathogenic
18	53179005	ACTGTGGGAAAC	A	T53179009A	DCC	NM_005215.4(DCC):c.1466_1476del:p.Val489fs	coding	Pathogenic
18	53397387	C	CA	C53397394A	DCC	NM_005215.4(DCC):c.2774dup:p.Asn925fs	coding	Pathogenic
18	55229024	CCTT	C	T55229027C	TCF4	NM_001083962.2(TCF4):c.1699_1701del:p.Lys567del	coding	Pathogenic
18	55232652	C	CT	G55232654T	TCF4	NM_001083962.2(TCF4):c.1505dup:p.Gln504fs	coding	Pathogenic
18	55234630	CAGAAG	C	G55234635T	TCF4	NM_001083962.2(TCF4):c.1399_1403del:p.Leu467fs	coding	Pathogenic
18	55254597	TC	T	C55254601A	TCF4	NM_001083962.2(TCF4):c.1249del:p.Asp417fs	coding	Pathogenic
18	55257317	AAG	A	A55257320T	TCF4	NM_001083962.2(TCF4):c.1142_1143del:p.Ser381fs	coding	Pathogenic
18	55257322	T	TGTAA	G55257328T	TCF4	NM_001083962.2(TCF4):c.1135_1138dup:p.His380fs	coding	Pathogenic
18	55257374	AC	A	C55257376A	TCF4	NM_001083962.2(TCF4):c.1086del:p.Trp362fs	coding	Pathogenic
18	55260044	G	GA	C55260055A	TCF4	NM_001083962.2(TCF4):c.991-18dup	noncoding	Benign
18	55269865	AC	A	C55269866A	TCF4	NM_001083962.2(TCF4):c.887del:p.Cys296fs	coding	Pathogenic
18	55269979	GA	G	A55269984G	TCF4	NM_001083962.2(TCF4):c.790-17del	noncoding	Benign
18	55275637	C	CA	G55275639A	TCF4	NM_001083962.2(TCF4):c.770dup:p.His258fs	coding	Pathogenic
18	55275730	AG	A	G55275733T	TCF4	NM_001083962.2(TCF4):c.677del:p.Pro226fs	coding	Pathogenic
18	55275737	CT	C	T55275738G	TCF4	NM_001083962.2(TCF4):c.670del:p.Ser224fs	coding	Pathogenic
18	55279577	G	GTGCTGGT	T55279593G	TCF4	NM_001083962.2(TCF4):c.622_628dup:p.Thr210fs	coding	Pathogenic
18	55322254	CCT	C	C55322259T	TCF4	NM_001083962.2(TCF4):c.549+28099AG[2]	noncoding	Benign
18	55463948	C	CTGTG	A55463979T	TCF4	NM_001083962.2(TCF4):c.207+98CA[17]	noncoding	Benign
18	55463948	C	CTGTGTG	A55463979T	TCF4	NM_001083962.2(TCF4):c.207+98CA[18]	noncoding	Benign
18	55463948	CTG	C	T55463977A	TCF4	NM_001083962.2(TCF4):c.207+98CA[14]	noncoding	Benign
18	55463971	TGTGTGTGA	T	T55463973A	TCF4	NM_001083962.2(TCF4):c.207+97_207+104del	noncoding	Benign
18	55463977	T	TGA	A55464004G	TCF4	NM_001083962.2(TCF4):c.207+73TC[14]	noncoding	Benign
18	55463977	T	TGTGA	A55463979T	TCF4	NM_001083962.2(TCF4):c.207+98_207+99insCTCA	noncoding	Benign
18	55464094	TC	T	C55464096T	TCF4	NM_001083962.2(TCF4):c.188del:p.Gly63fs	coding	Pathogenic
18	55586840	CA	C	A55586854G	TCF4	NM_001083962.2(TCF4):c.72+204del	noncoding	Benign
18	57551424	CT	C	T57551433C	FECH	NM_000140.5(FECH):c.1078-51del	noncoding	Benign
18	57554136	GAGGACAC	G	A57554137C	FECH	NM_000140.5(FECH):c.1077+117_1077+123del	noncoding	Benign
18	57554391	CT	C	T57554392G	FECH	NM_000140.5(FECH):c.945del:p.Asp316fs	coding	Pathogenic
18	57554484	CCT	C	C57554485G	FECH	NM_000140.5(FECH):c.913-62_913-61del	noncoding	Benign
18	57554854	CCA	C	A57554858C	FECH	NM_000140.5(FECH):c.901_902del:p.Trp301fs	coding	Pathogenic
18	57554913	CG	C	G57554914C	FECH	NM_000140.5(FECH):c.843del:p.Ser281fs	coding	Pathogenic
18	57573306	A	AC	A57573308C	FECH	NM_000140.5(FECH):c.253dup:p.Val85fs	coding	Pathogenic
18	57586553	CGCGGA	C	G57586554T	FECH	NM_000140.5(FECH):c.63_67delTCCGC:p.Pro22fs	noncoding	Pathogenic
18	57662508	GCACGGTTTC	G	G57662512C	ATP8B1	NM_001374385.1(ATP8B1):c.2384_2392del:p.Gly795_Arg797del	coding	Pathogenic
18	57662705	CA	C	A57662712C	ATP8B1	NM_001374385.1(ATP8B1):c.2286-91del	noncoding	Benign
18	57667208	T	TTTTTA	G57667228A	ATP8B1	NM_001374385.1(ATP8B1):c.2210-56TAAAA[4]	noncoding	Benign
18	57668554	T	TAAAAAAAA	G57668571A	ATP8B1	NM_001374385.1(ATP8B1):c.2098-30_2098-23dup	coding	Benign
18	57668554	T	TAAAAAAA	G57668571A	ATP8B1	NM_001374385.1(ATP8B1):c.2098-21_2098-15dup	coding	Benign/Likely_benign
18	57668554	T	TAAAAA	G57668571A	ATP8B1	NM_001374385.1(ATP8B1):c.2098-19_2098-15dup	coding	Benign/Likely_benign
18	57668554	T	TAAA	G57668571A	ATP8B1	NM_001374385.1(ATP8B1):c.2098-17_2098-15dup	coding	Benign/Likely_benign
18	57684367	CT	C	T57684378G	ATP8B1	NM_001374385.1(ATP8B1):c.1474-176del	noncoding	Benign
18	57685238	TTTA	T	T57685243C	ATP8B1	NM_001374385.1(ATP8B1):c.1430-126_1430-124del	noncoding	Benign
18	57691813	TAGAG	T	G57691819T	ATP8B1	NM_001374385.1(ATP8B1):c.1210_1213del:p.Leu404fs	coding	Pathogenic
18	57706555	T	TG	C57706557G	ATP8B1	NM_001374385.1(ATP8B1):c.213dup:p.Lys72fs	coding	Pathogenic
18	57729417	AATCAACTAGAACTTCCTTGTAACTTGTCTGGCTGCTTCAGCTTTAGCTAGTTCACCAATATCCAGTCTGGACCTGTTATGACAGAGGCCACCTTCCTGTTCAGATTGGTGGGAATTCCATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACCATCTCAGCTCACTGCCACCTCTGCCTGCCGGGTTCTAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTACAGGCACTTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCTGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACTCACCTCAGTCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCAGGGAATTTCACTTTAATTTTGGTCAAGTATCATGAGTTTAGTACCTTCTGATTCAAGGCAGAAGGCACTTAAGCTCAATCCTCAACAGCTTGAAATCAAAACCAGAAACCCACTCTAAGAGGTAATCCATCTAAATGTTTGCTATGGAAAGGTAGCGGACACACAACATACAGGAGTCAATGGCCTCCCCACATTTGGGTGAGATGGGGCTCGCGGGGTGCATGCACTCCCCACACTGAGAATCTCCCCACAGGCAGATTCTGTGACCAGAACAGGAAGAATCATTGCAGAAATGGGATTTCATGCATATCACATCTTCTACAGGTTAAAATTATTAGAAAAAAATAGCTCATCCAGATAGCAGAACCCAAGAAAGAGAAACTAGAGGGGGGGTTTGGCATGGGGGAAAAAGAGGCTTCTAGAAAGCCTTCAAGGGCAGAATGGCAGTAACAGAGACCTCGGGAAAACCAGCTAAAATCCGAGGCTTCTCTGACTAAGGCTGCAGGGAGGCGTGTCTGGAGCGCTGAAACCAGAACACTATGATAATGATTTCTGTGAATGTGATGCTAAGGTTGTTCGGCTAGAATTTTAGGGAACACCATGGAGGAAATATTTTCAGCCTGATATCAAATCTGGGGTCCAGAGAGAAAAGTCTCAGCTTGCTCATGGAGAAGAGCTACAAGAGAAGCCCACATCTGTTTGCCAGGGTGGGAGAACCAGCAGGAGATGAAATAGAAAAGCCACAAAAGAAAAGGCATCATGGTAAAAGCAAGCCATGTTCTACTGCCTTCAGTGATGTACTGTCTGCGGTCACTTACACTCAACATTGGCAGAGACCACGTGGTCCACAAAGCCTAAAATGTTTACTTGCTGGCCCTTTACAGAAAAAGTTTGCTGGCCTTGGTCTAGACCCTGCCTCTGATGCTGGCCTGACCCTGGGCAGACCATATACATATATATATATATATATATATATATATATATACACACACACACACACACACATACACAAGGATGGTTATTTATATAACTCATACCGCCAATTTAACAATACTAATAGTTAACATCTAAGACTGATTGATATGTATCCTTTAAAAATTTCTGGGTGCAGTAACATGCAGATTCTTGCCCGCATAACTCCATTTTAAGAATATATACACTGGCTACGCATCGTAGCTCATGCCTGTAATTCCAGGAGTTTGAGAGGTTGAGGTGGGCAGATCCCTTGAGCTCAGGAGTTTGAGACGAGCCTGGGCAACATAGTGAAATACCATCTACACACACAAACACACACACAAATACAAAAATTAGTTGGACATACTGGTGCATGCCTGTAGTCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCACTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGCCGAGTTCACACCACTGGACTCCAGCTGGGGAGACACAGTGAGACCCTGCCTCAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACACACACTAACAAAGACCTTAATGTATTTTCTCTGCAGAACTTGTCAGATATGCTCTCCCAGCCCTTCTTACTAAGGACAATGGGTACTTGTCCAAGCCCATCCACCATTCTGTCAGTCGCATCCTAAGAAGAGATCAGAGAAGATTCTCTCCTAGACCACGCAAAATAGACCGATCATCTTTGGCACGTGTGGCCATGACCCACATGAGGATTTATAAGCGACCTAGTCACCGGGACTTCATGTGGTTACCTTTTCTGAATGGCTCCCGGTTCTCCTCTGCTTCCCTGTTGACTCGGTTTTGTTCTGGTTCAACAGCAGACCCCTGGTCATCAAGTTCATCTTCTGTTTCATCATCACTGTAGGGAACCACTTCGTCATTAGGCTGAGAATCCTCGTCAAATGTCGTTTCTGAGTCTCTTTCTGTACTCATTCTGCTGGCAAATTGGAACTACCTGCTTAAAAGGAAAGAGAAACCAGAGTGAATTATGACTCTTGCCCAGTTTTTGGTTGAATACTGCCTGCATGCTGCTACAATGCCCCTTTTACAGAACATTGTCTAACATGTAAATATTCTGGAATAGTACCCCCAAATTCAACTTGACATGAAGACAAGAACAAAACCATTCAGTACTGATTAAATGCTTGGGTAAGATTTTTTTAAAAAATATGGAGCTGCAAACCTTTTATTTTTAAACAAGGGTATATATATATATGTATGTGTATATATATATGTATATATGTATATATATGTGTATATGTATATATGTGTATATATGTATATATATGTATATATGTATATATGTGTATATATGTATATATGTGTATATATGTATATATGTGTATATATGTATATATGTGTATATATATGTATATATGTATATATGTGTATATATGTATATATGTGTATATATGTATATATATGTGTATATATGTGTGTATATATGTGTATATATGTGTGTATATATATGTATATATGTGTATATATATGTATATATATATTCAAGGCAATATTTCAAATTAGGGGGTCTCAATGAAATAAATTTAGTGGGTAACAATCAACATTAAAATAAAATGAAACAGGCTATAAAATATCAGATTACAGCACATATAATAAGTACTGCTTGATAAAATAGTTGTACACATTCACACATTTATTTGCATTGTGGGTGTTAGTGGAGTTGAATTTCTTTTTTTTCTTTTTTTGAGATAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGTCACCTCCGCCTCCTGTGTTCAAGTGATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCACACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAACTCCTGACCTCAAGTCATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCCCGCGCCCGGCCGGAGTTGAATTTCTTACTGTGGATTGCTGGCAAAGTTGACAAACCACTGCTCTAAGATATCTGGTTTCTGCTAACACTAACGTCCTGAGCCTTTGTTCTGATACAACATTTTTAATATAACCTTAGATCTTCCAAGTTTACTGACTTCCCAGGAACACTCCCTAGCCTTTCTATCTTCCTAACTACCACTGCCCACTCTGTATCTGGAATTTGTGTTTGAGCATCTACCGCATAAGATGACCCCATACAAGTGAGAAGAACAACCTTAGTTAGATTTATTTTAGGAAAATATTTACACAAATACCTCAGGTTACAGACACACAGCCTGGCATTTACATAAGCATCACAGTGCCGTGTAGTCAGTATTGTTAATGACAGCAGCTCGCATTTATTTTGTGTTAACTGCATGCCAAGCCTTGCACTAAGCACTTTATAGACATGTGCTCTTTGAAACTTCCCACACCACCATGGTGAATAACAGTATTATTGTTATTCCTACCCAGCAGAGGAGAAAAATCAAAACACTGGAGTGCTAAATAATTTGCACAATGATTATTAAAAATTTAAGGCAGCCACGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTTTCTACTAAAAATATAAAAAATTAGCCAGACGTGGTAGCGGGCACCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATGTAAGGCAAAAACAACTGCTTCACAAGGAGAGGTCTATGCTCTATTTTTGTACTATGGTTTATGATATATTTTGAGTGAAAATTGCCTCAAGTAGAACTATGTAGCTGATTGCAAGTTTTGCACCAAATCTTAGATCTCTAAAATAATTTTTACATTCACAAATGGACACTTAGGAAATTTTCAAATATTTATATGAGGATTTTTACCAAGTATTATGTAAAACAGTAAAAGCCAAAAGCAAGCTGGGTTACAATTGTCGACTGTGTAAATAAATTGTGGCATCTCATATTATAGGATAATGTGCAACAATCTAGATGATCCAAAGAGTATTTGATGACATTGCATTAATGACCTTAAGTTAATAGGTAAGTTATAAAGCCATATGTATAGAATACACCCAGTTATTCACACACACACTTGTTCATTTTCCAAAATTTCAACAATTGACATACATTATTTTATTATTATTATCTTTTGAGACAGAGTATCGCTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGACATACATTATTTTAAGTGAGATGATGCATGCAAAATGCTCAACTCAGTACCTAGCCTGCAATAAGTATTCAATGAACATTAACTGTTAATTTTTCATATACTTCTTGGCGATTTGTATGTTTCCTTTTGAAAAATGTCTATTCATGTCCTTTGCCCACTTTTTAATGGTATTATTATTATTTTAAAATATTGCTGGCATTCATTATTACAAAGAACAACTTAGATTCTACTGCATGATGCTGTACTGTGGCACAGTTCTAAAGAGCCCTATAGTCATGGATGCAAAGTTCCTAGCACTACTGGTCCTCAGCACCTCAGGCCATTATCTTATGGCTTCACAGAATATTCATTCCCCAAATCCATAGTCTTTACCTCTGGCCTTAGCTTTTCAGTAGCAAGCACAAGCATTCCTGGTGAGAGACAGGGCTAGCTGGATTTCCTAGGCCGACTATGAATCCCTAAGTCTAGCTGGGAAGGTGACTGCATCCACCTTTAAACAGGAGGCTTGCAACTGAGCTCACACCTGACCAATCAGAGAGCTCACTAAATGCTAATTAGGCAAAAACAGGAGGTAAAGAAATAGCCAATCATCTATTGCCTGATGAACTCATCTATTGCCTGATGAGGGACAAGGATCGGGATATAAACCCAGGCATTGGAGCCAGCAAGGGCAACCCCCTTTGGGTCCCCTCCTTGTATGGGAGCTCTGTTTTCACTCTATTTCACTCTATTAAATCTTGCAGCTGCACCCTTCTGGTTACCGCTAGAACTGAGCTTTCGCTCGCCGTCCACCACTGCTGTTTTGCTGCCGTCGCAGACCCGCCGCTGACTTCCATCCCTCCAATCCAGCAGGGCGCCCGCTGTGCTCCTGATCCAGGGAAGCACCCGTTGCCACTCCTGATCGCGCTAAAGGCTTGCCATTGTTCCTGCATGGCTAAGTGCCTGGTTTCGTCCTAATCAAGCTGAACACTAGTCACTGGGTTCCACGGTTCTCTTCCGTGACCCACGACTTCTAATAGAGCTATAACACTCACCGCACGGCCCAAGATTCCATTCCTTGGAATCCGTGAGGCCAAGAACCCCAGGTCAGAGAACACGAGGCTTGCCACCATCTTGGAAGTGGCCTGCCGCCATTTTGGAAGTGGCCCACCACCATCTTGGGAGCTCTGGGAGCAAGGACCCCTGGTAACACTGGCAGTACTTATACTTTCATTGGTTATACTTATAATTCCCTGGTTATATTTATACTTTCCTGGCAGTACGTATACTTTCATGGTTTATACTATTTTAAAATTATTTTTTATTAAATGGAGCCAAATTTTTTAAAAGTCATCTTTTCCACTAAATTGGCATCACCATGTTAAATCTAAATTTCCCTACTAAGTCTTTATTTTACTTTATTTTATTTTACTTTAAGTTCTAGGATACATGTGCAGAAC	A	C57729420G	ATP8B1	NM_001374385.1(ATP8B1):c.-25-4014_181+2209del	noncoding	Pathogenic
18	57731308	AATATATATATATATATATATATATATATATATATAT	A	T57731340C	ATP8B1	NM_001374385.1(ATP8B1):c.181+253AT[15]	noncoding	Benign
18	57731308	AATATATATATATATATATATATATATATATATATATAT	A	T57731338C	ATP8B1	NM_001374385.1(ATP8B1):c.181+253AT[14]	noncoding	Benign
18	57731308	AATATATATATATATATATATATATATATATATATATATAT	A	T57731336C	ATP8B1	NM_001374385.1(ATP8B1):c.181+253AT[13]	noncoding	Benign
18	57731308	AATATATATATATATATATATATATATATATATATATATATAT	A	T57731334C	ATP8B1	NM_001374385.1(ATP8B1):c.181+253AT[12]	noncoding	Benign
18	58322410	G	GT	C58322417T	NEDD4L	NM_001144967.3(NEDD4L):c.349-9dup	noncoding	Benign
18	58322410	GT	G	T58322416C	NEDD4L	NM_001144967.3(NEDD4L):c.349-9del	noncoding	Benign
18	58329090	T	TGGAGCC	C58329097G	NEDD4L	NM_001144967.3(NEDD4L):c.777_782dup:p.260_261EP[3]	coding	Benign/Likely_benign
18	58329136	TC	T	C58329140A	NEDD4L	NM_001144967.3(NEDD4L):c.813+13del	noncoding	Benign
18	58330697	CTTCT	C	T58330702A	NEDD4L	NM_001144967.3(NEDD4L):c.814-36_814-33del	noncoding	Benign
18	58341595	CGTT	C	G58341602T	NEDD4L	NM_001144967.3(NEDD4L):c.1258-82GTT[2]	noncoding	Benign
18	58349404	T	TGG	A58349408G	NEDD4L	NM_001144967.3(NEDD4L):c.1576-131_1576-130dup	noncoding	Benign
18	58357164	AT	A	T58357182A	NEDD4L	NM_001144967.3(NEDD4L):c.1709-12del	noncoding	Benign
18	58357164	ATT	A	T58357181A	NEDD4L	NM_001144967.3(NEDD4L):c.1709-13_1709-12del	noncoding	Benign
18	58373010	T	TTTAAA	G58373016T	NEDD4L	NM_001144967.3(NEDD4L):c.2257-163_2257-159dup	noncoding	Benign
18	58387384	AT	A	T58387396G	NEDD4L	NM_001144967.3(NEDD4L):c.2488-43del	noncoding	Benign
18	58387418	TG	T	G58387419T	NEDD4L	NM_001144967.3(NEDD4L):c.2488-20del	noncoding	Benign
18	58387419	G	GT	C58387432T	NEDD4L	NM_001144967.3(NEDD4L):c.2488-8dup	noncoding	Benign/Likely_benign
18	58387419	GT	G	T58387431C	NEDD4L	NM_001144967.3(NEDD4L):c.2488-8del	noncoding	Benign
18	58387419	GTT	G	T58387430C	NEDD4L	NM_001144967.3(NEDD4L):c.2488-9_2488-8del	noncoding	Benign
18	58537155	ACAGTTGATGTGTCCT	A	T58537160C	ALPK2	NM_052947.4(ALPK2):c.3017_3031del:p.Glu1006_Thr1010del	coding	Benign
18	58681251	T	TG	A58681253G	MALT1	NM_006785.4(MALT1):c.292dup:p.Glu98fs	coding	Pathogenic
18	58709541	CA	C	A58709546G	MALT1	NM_006785.4(MALT1):c.818del:p.Lys273fs	coding	Pathogenic
18	58710917	CAAGG	C	G58710921A	MALT1	NM_006785.4(MALT1):c.926_929delGAAG	noncoding	Pathogenic/Likely_pathogenic
18	58723033	CT	C	T58723042C	MALT1	NM_006785.4(MALT1):c.1019-6del	noncoding	Benign
18	58733488	TTGTC	T	C58733492G	MALT1	NM_006785.4(MALT1):c.1318_1321del:p.Leu440fs	coding	Pathogenic
18	58733525	GA	G	A58733530G	MALT1	NM_006785.4(MALT1):c.1356del:p.Glu453fs	coding	Pathogenic
18	58741910	T	TTCGAAGTAGTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGC	A58741923T	MALT1	NM_006785.4(MALT1):c.1661_1662insTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGCTCGAAGTAGTTT:p.Leu554delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaGlyArgLeuGlnTer	coding	Pathogenic
18	58742029	A	AT	G58742036T	MALT1	NM_006785.4(MALT1):c.1753+21dup	noncoding	Benign
18	58745650	A	AT	A58745662T	MALT1	NM_006785.4(MALT1):c.1912-5dup	noncoding	Benign
18	58745650	A	ATT	A58745662T	MALT1	NM_006785.4(MALT1):c.1912-6_1912-5dup	noncoding	Benign
18	59269718	TTCTCTC	T	C59269734T	RAX	NM_013435.3(RAX):c.544-237GA[7]	noncoding	Benign
18	59269718	TTCTCTCTC	T	C59269732T	RAX	NM_013435.3(RAX):c.544-237GA[6]	noncoding	Benign
18	59269738	C	CT	G59269755T	RAX	NM_013435.3(RAX):c.544-253dup	noncoding	Benign
18	59269738	CTTT	C	T59269752G	RAX	NM_013435.3(RAX):c.544-240_544-238del	noncoding	Benign
18	59272940	CG	C	G59272944C	RAX	NM_013435.3(RAX):c.266del:p.Pro89fs	coding	Pathogenic
18	59273625	AAC	A	A59273630T	RAX	Single_allele	noncoding	Benign
18	59333286	GT	G	T59333297C	LMAN1	NM_005570.4(LMAN1):c.1221-43del	noncoding	Benign
18	59347472	A	AAACC	C59347474A	LMAN1	NM_005570.4(LMAN1):c.822+40_822+41insTGGT	noncoding	Benign
18	59347580	T	TA	G59347593A	LMAN1	NM_005570.4(LMAN1):c.764-21dup	noncoding	Benign
18	59359341	A	AC	A59359347C	LMAN1	Single_allele	noncoding	Benign
18	59436290	T	TG	T59436296G	CCBE1	NM_133459.4(CCBE1):c.988-154dup	noncoding	Benign
18	60371614	T	TAATC	G60371619A	MC4R	NM_005912.3(MC4R):c.732_735dup:p.Thr246fs	coding	Pathogenic
18	60371715	TAGAG	T	G60371719A	MC4R	NM_005912.3(MC4R):c.631_634del:p.Leu211fs	coding	Pathogenic
18	60371975	AA	TT	A60371975T	MC4R	NM_005912.3(MC4R):c.374_375inv:p.Ile125Lys	coding	Pathogenic
18	60372070	TCACCAGCATATCAGC	T	C60372074A	MC4R	NM_005912.3(MC4R):c.265_279del:p.Ala89_Val93del	coding	Pathogenic
18	62045677	G	GA	G62045687A	PIGN	NM_176787.5(PIGN):c.*178dup	noncoding	Benign
18	62072729	T	TAA	G62072743A	PIGN	NM_176787.5(PIGN):c.2620-17_2620-16dup	noncoding	Benign
18	62074825	GA	G	A62074834G	PIGN	NM_176787.5(PIGN):c.2577-5del	noncoding	Benign
18	62084625	G	GA	G62084631A	PIGN	NM_176787.5(PIGN):c.2427-20dup	noncoding	Benign
18	62085211	G	GT	A62085214T	PIGN	NM_176787.5(PIGN):c.2423dup:p.Asn808fs	coding	Pathogenic
18	62090506	TAG	T	A62090509T	PIGN	NM_176787.5(PIGN):c.2251_2252del:p.Leu751fs	coding	Pathogenic
18	62090604	GA	G	A62090608G	PIGN	NM_176787.5(PIGN):c.2181-27del	noncoding	Benign
18	62101124	CCT	C	C62101125G	PIGN	NM_176787.5(PIGN):c.2026_2027del:p.Arg676fs	coding	Pathogenic
18	62106991	C	CTTCA	A62106996T	PIGN	NM_176787.5(PIGN):c.1665_1668dup:p.Val557Ter	coding	Pathogenic
18	62109886	AT	A	T62109887G	PIGN	NM_176787.5(PIGN):c.1521del:p.Tyr508fs	coding	Pathogenic
18	62110281	T	TA	T62110283A	PIGN	NM_176787.5(PIGN):c.1435-309dup	noncoding	Benign
18	62112983	CTG	C	T62112984A	PIGN	NM_176787.5(PIGN):c.1434+149_1434+150del	noncoding	Benign
18	62114359	C	CAA	T62114377A	PIGN	NM_176787.5(PIGN):c.1251+185_1251+186dup	noncoding	Benign
18	62114647	T	TA	G62114656A	PIGN	NM_176787.5(PIGN):c.1173-16dup	noncoding	Benign
18	62138784	AAC	A	C62138788A	PIGN	NM_176787.5(PIGN):c.1116+197_1116+198del	noncoding	Benign
18	62138970	A	AT	A62138981T	PIGN	NM_176787.5(PIGN):c.1116+12dup	noncoding	Benign
18	62138970	AT	A	T62138980A	PIGN	NM_176787.5(PIGN):c.1116+12del	noncoding	Benign
18	62140314	T	TA	C62140325A	PIGN	NM_176787.5(PIGN):c.1023+96dup	noncoding	Benign
18	62140375	G	GT	A62140385T	PIGN	NM_176787.5(PIGN):c.1023+36dup	noncoding	Benign
18	62140487	T	TA	G62140494A	PIGN	NM_176787.5(PIGN):c.964-9dup	noncoding	Benign
18	62145892	TAAAG	T	G62145896T	PIGN	NM_176787.5(PIGN):c.922+13_922+16del	noncoding	Benign
18	62147258	A	AT	C62147265T	PIGN	NM_176787.5(PIGN):c.675-163dup	noncoding	Benign
18	62154601	CCT	C	C62154606T	PIGN	NM_176787.5(PIGN):c.491_492del:p.Glu164fs	coding	Pathogenic
18	62161131	A	AC	T62161134C	PIGN	NM_176787.5(PIGN):c.221+1dup	noncoding	Pathogenic
18	62354502	AG	A	G62354503T	TNFRSF11A	NM_003839.4(TNFRSF11A):c.396del:p.Glu132fs	coding	Pathogenic
18	62369444	C	CG	T62369448G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.1530dup:p.Ser511fs	coding	Pathogenic
18	63798588	A	AT	C63798598T	SERPINB7	NM_003784.4(SERPINB7):c.455-7dup	noncoding	Benign
18	63800914	TTGTC	T	C63800918T	SERPINB7	NM_003784.4(SERPINB7):c.650_653del:p.Ser217fs	coding	Pathogenic
18	63984880	G	GT	C63984891T	SERPINB8	NM_002640.4(SERPINB8):c.568-203dup	noncoding	Benign
18	63984880	G	GTT	C63984891T	SERPINB8	NM_002640.4(SERPINB8):c.568-204_568-203dup	noncoding	Benign
18	65824936	TA	T	A65824937T	CDH7	NM_004361.5(CDH7):c.981+106del	noncoding	Benign
18	68687906	GCATA	G	T68687909A	TMX3	NM_019022.5(TMX3):c.638-145_638-142del	noncoding	Benign
18	68691277	TAA	T	A68691279G	TMX3	NM_019022.5(TMX3):c.637+16_637+17del	noncoding	Benign
18	68700489	T	TA	T68700505A	TMX3	NM_019022.5(TMX3):c.312-19dup	noncoding	Benign
18	68709929	CA	C	A68709937G	TMX3	NM_019022.5(TMX3):c.265+91del	noncoding	Benign
18	68710171	C	CA	G68710179A	TMX3	NM_019022.5(TMX3):c.142-34dup	noncoding	Benign
18	68713724	G	GA	T68713732A	TMX3	NM_019022.5(TMX3):c.101+115dup	noncoding	Benign
18	70017429	AT	A	T70017432G	RTTN	NM_173630.4(RTTN):c.6398del:p.Asn2133fs	coding	Pathogenic
18	70028637	AT	A	T70028642C	RTTN	NM_173630.4(RTTN):c.5823+86del	noncoding	Benign
18	70030989	GA	G	A70030991T	RTTN	NM_173630.4(RTTN):c.5542-9del	noncoding	Benign
18	70074141	TA	T	A70074154T	RTTN	NM_173630.4(RTTN):c.4565-148del	noncoding	Benign
18	70075471	T	TA	T70075473A	RTTN	NM_173630.4(RTTN):c.4444dup:p.Tyr1482fs	coding	Pathogenic
18	70086694	TAAAAAAAAAAAAAA	T	A70086720G	RTTN	NM_173630.4(RTTN):c.4303-24_4303-11del	noncoding	Benign
18	70086694	TAAAAAAAAAAAA	T	A70086722G	RTTN	NM_173630.4(RTTN):c.4303-22_4303-11del	noncoding	Benign
18	70092761	GACAT	G	C70092763G	RTTN	NM_173630.4(RTTN):c.3943_3946del:p.Met1315fs	coding	Pathogenic
18	70127706	ATGTC	A	T70127707C	RTTN	NM_173630.4(RTTN):c.3175_3178del:p.Asp1059fs	coding	Pathogenic
18	70134938	CA	C	A70134943T	RTTN	NM_173630.4(RTTN):c.2885+245del	noncoding	Benign
18	70142411	A	AC	A70142414C	RTTN	NM_173630.4(RTTN):c.2482-26dup	noncoding	Benign
18	70150880	CCTGT	C	G70150883A	RTTN	NM_173630.4(RTTN):c.1930-151_1930-148del	noncoding	Benign
18	70168865	AT	A	T70168866A	RTTN	NM_173630.4(RTTN):c.1678del:p.Ile560fs	coding	Pathogenic
18	70193176	CAAAAAAAAAA	C	A70193187G	RTTN	NM_173630.4(RTTN):c.1007+102_1007+111del	noncoding	Benign
18	70193176	CA	C	A70193196G	RTTN	NM_173630.4(RTTN):c.1007+111del	noncoding	Benign
18	70193176	C	CA	G70193197A	RTTN	NM_173630.4(RTTN):c.1007+92dup	noncoding	Benign
18	70196296	GA	G	A70196309G	RTTN	NM_173630.4(RTTN):c.841+204del	noncoding	Benign
18	70201607	CA	C	A70201634C	RTTN	NM_173630.4(RTTN):c.487+286del	noncoding	Benign
18	70201607	C	CAA	C70201635A	RTTN	NM_173630.4(RTTN):c.487+260_487+261dup	noncoding	Benign
18	70201607	C	CA	C70201635A	RTTN	NM_173630.4(RTTN):c.487+260dup	noncoding	Benign
18	79977810	TTTTTG	T	G79977820T	TXNL4A	NM_006701.5(TXNL4A):c.154-114_154-110del	noncoding	Benign
18	79986442	C	CA	T79986451A	TXNL4A	NM_006701.5(TXNL4A):c.153+1790dup	noncoding	Benign
18	79988298	TGG	T	G79988299C	TXNL4A	NM_006701.5(TXNL4A):c.93_94del:p.His32fs	coding	Pathogenic
19	501701	G	GACACCACCTCCCCGGAGCCTCCCA	T501719C	MADCAM1	NM_130760.3(MADCAM1):c.717_718insCCTCCCAACACCACCTCCCCGGAG:p.Glu239_Ser240insProProAsnThrThrSerProGlu	coding	Pathogenic
19	501743	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC	C501786A	MADCAM1	NM_130760.3(MADCAM1):c.761AGGAGCCTCCCGACACCACCTCCC[3]:p.Ser261_Pro262insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer	coding	Pathogenic
19	621455	TGCGGCAGGTGGGCCTCGG	T	A621461T	POLRMT	NM_005035.4(POLRMT):c.2225_2242del:p.Pro742_Pro747del	coding	Pathogenic
19	731077	GG	CT	G731077C	PALM	NM_002579.3(PALM):c.270-18_270-17delinsCT	noncoding	Benign
19	853122	CG	C	G853131T	ELANE	NM_001972.4(ELANE):c.224+99del	noncoding	Benign
19	853325	G	GCAGGTGTTCGCC	G853338C	ELANE	NM_001972.4(ELANE):c.289_300dup:p.Ala100_Val101insGlnValPheAla	coding	Pathogenic
19	855739	GC	G	C855741G	ELANE	NM_001972.4(ELANE):c.544del:p.Arg182fs	coding	Pathogenic
19	855767	GAGGGGCCGGC	G	G855771C	ELANE	NM_001972.4(ELANE):c.574_583del:p.Gly192fs	coding	Pathogenic
19	856043	AC	A	C856047G	ELANE	NM_001972.4(ELANE):c.687del:p.Asp230fs	coding	Pathogenic
19	918407	GGGGA	G	A918411G	KISS1R	NM_032551.5(KISS1R):c.245-133_245-130del	noncoding	Benign
19	918410	GA	G	A918411G	KISS1R	NM_032551.5(KISS1R):c.245-133del	noncoding	Benign
19	919988	AC	A	C919989A	KISS1R	NM_032551.5(KISS1R):c.621del:p.Leu206_Tyr207insTer	coding	Pathogenic
19	920102	TG	T	G920103C	KISS1R	NM_032551.5(KISS1R):c.735del:p.Gln246fs	coding	Pathogenic
19	920276	CGGCACCCCCCCAGGGGCAGGTGCTGGCAGAGCGCGCAGGCGCCGTGCGGGCCAAGGTCTCGCGGCTGGTGGCGGCCGTGGTCCTGCTCTTCGCCGCCTGCTGGGGCCCCATCCAGCTGTTCCTGGTGCTGCAGGCGCTGGGCCCCGCGGGCTCCT	C	C920284A	KISS1R	NM_032551.5(KISS1R):c.739-6_887del	noncoding	Pathogenic
19	1105528	C	CG	C1105533G	GPX4	NM_002085.5(GPX4):c.324+22dup	noncoding	Benign
19	1105840	TGGGGTG	T	T1105851G	GPX4	NM_002085.5(GPX4):c.476+42_476+47del	noncoding	Benign
19	1206911	AGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTCTGTCTTCCTTCCTTCTCTCCTCCCTCCCTCCCTTACTTCCTCTTAACACCCTGAGCTGGACCCGTCTGGCGCCTGTGTCCTCCGTGCCAGGGAGAGCGTGGTTGGGGGCCTGCGTTACGGACTTTCACTCAGGCAAGGCCAGTTGTCGCAGCGGGGCGTGCGTTTGCATGGGCTCTTGGACTCCAGTTAAAATGCCCTGGTAGCGAAACCCTCCTGAGAAGGGAGCGGCCCCCAATCCCCTAAGACTAGCCCCTTGGCTCCCCCAGCTGTCCAAGGAGCAGAGGCGCCCAGTGGAATCAGCCTGTGTTTGTTTGGGCCCCGAGAGTTTGTGTGCGGCCGCCAACACGTTTTCTGCGCAGTGTGTGGCCGTTACCGGGGCCAGGCGAAATGTGATTTGTTTATCCTGTCAGAGGGGAACCCTGGGCTGCCAAAAATAACTGTTTGCACCGGCTTATCAGTCAGCAGGAGGGAAACGTAGCCTTTCCTCATTTGCCAGGGATGTGACGCTGGAAGCATCCCTGGCCCCCGGGGCTGGAAGCCCTGCCCGAGGGGGACTGTGCCTCCCTCCCGAATTGCATCCGGAAGACCTTACTTTTCCAACTGACTTCTTCAGGCACGGGGCTGCCGCTGGGCATCCCGGACGCCTCTGCATCTGTGCGCGGAGAAGCTCCTACCTAGGGCAGCACTGGCCGGCCTGAGCCTCTCCCAGCTGGTGGGGGTGGCCGGGGGTGTCCCTGCCTTATCGCAGCCAGACACGCTGCACCTGCCGCCGCCTGGCGGGCCCTGCCCAGGCCCTGCTCCTTTCCCAGCCTTCTTAACTTTCAAAACTTTGCCTCCTGTTTCCAAGAAAGGACCTTATCTGCTGGGCTAGGCCTCGAGGGACTGGCAAGGACACCCTGCGCAGGGCACCATGACCTTGGAAGGAGGTCCGGGGAGGGGCTGCTGCGGTGTCTGC	A	G1206912T	STK11	NM_000455.5(STK11):c.-2_290+1013del	noncoding	Pathogenic
19	1206939	T	TG	C1206943G	STK11	NM_000455.5(STK11):c.29dup:p.Met11fs	coding	Pathogenic
19	1207019	T	TA	C1207021A	STK11	NM_000455.5(STK11):c.107dup:p.Tyr36Ter	coding	Pathogenic
19	1207020	A	AC	A1207023C	STK11	NM_000455.5(STK11):c.109dup:p.Gln37fs	coding	Pathogenic
19	1207044	A	AG	C1207046G	STK11	NM_000455.5(STK11):c.132dup:p.Leu45fs	coding	Pathogenic
19	1207053	G	GC	A1207055C	STK11	NM_000455.5(STK11):c.141dup:p.Lys48fs	coding	Pathogenic/Likely_pathogenic
19	1207057	G	GT	A1207059T	STK11	NM_000455.5(STK11):c.145dup:p.Tyr49fs	coding	Pathogenic
19	1207065	T	TGG	A1207071G	STK11	NM_000455.5(STK11):c.156_157dup:p.Asp53fs	coding	Pathogenic
19	1207091	T	TAA	C1207093A	STK11	NM_000455.5(STK11):c.179_180insAA:p.Tyr60Ter	coding	Pathogenic
19	1207158	AG	A	G1207159A	STK11	NM_000455.5(STK11):c.246del:p.Lys83fs	coding	Pathogenic
19	1207166	T	TTC	G1207168C	STK11	NM_000455.5(STK11):c.254_255insCT:p.Leu85fs	coding	Pathogenic
19	1207168	GC	G	C1207169G	STK11	NM_000455.5(STK11):c.256del:p.Arg86fs	coding	Pathogenic
19	1207176	TC	T	C1207180A	STK11	NM_000455.5(STK11):c.267del:p.Asn90fs	coding	Pathogenic
19	1218453	TG	T	G1218454T	STK11	NM_000455.5(STK11):c.328del:p.Val110fs	coding	Pathogenic
19	1218458	T	TG	C1218459G	STK11	NM_000455.5(STK11):c.332_333insG:p.Ile111fs	coding	Pathogenic
19	1218472	G	GTGTT	A1218477T	STK11	NM_000455.5(STK11):c.347_350dup:p.Leu117fs	coding	Pathogenic
19	1218474	GT	G	T1218476A	STK11	NM_000455.5(STK11):c.350del:p.Leu117fs	coding	Pathogenic
19	1218478	TACAACGAAG	T	C1218480G	STK11	NM_000455.5(STK11):c.354_362del:p.Tyr118_Glu121delinsTer	coding	Pathogenic
19	1219129	CGT	C	G1219130A	STK11	NM_000455.5(STK11):c.375-194_375-193del	noncoding	Benign
19	1219372	CAGCGTGCCGGAGA	C	G1219378T	STK11	NM_000455.5(STK11):c.429_441del:p.Pro144fs	coding	Pathogenic
19	1219410	A	AC	G1219412C	STK11	NM_000455.5(STK11):c.462dup:p.Gly155fs	coding	Pathogenic
19	1219411	C	CG	T1219415G	STK11	NM_000455.5(STK11):c.464+1dup	coding	Pathogenic
19	1219444	G	GCGGGGGC	A1219460G	STK11	NM_000455.5(STK11):c.464+32CGGGGGC[3]	noncoding	Benign/Likely_benign
19	1220355	GGT	G	T1220361C	STK11	NM_000455.5(STK11):c.465-17GT[2]	noncoding	Benign/Likely_benign
19	1220384	AGCTGATTGACG	A	T1220387C	STK11	NM_000455.5(STK11):c.479_489del:p.Leu160fs	coding	Pathogenic
19	1220393	A	ACGGC	T1220399G	STK11	NM_000455.5(STK11):c.487_490dup:p.Leu164fs	coding	Pathogenic
19	1220489	AC	A	C1220491T	STK11	NM_000455.5(STK11):c.583del:p.Leu195fs	coding	Pathogenic
19	1220519	A	AG	C1220527G	STK11	NM_000455.5(STK11):c.597+21dup	noncoding	Benign/Likely_benign
19	1220519	A	AGG	C1220527G	STK11	NM_000455.5(STK11):c.597+20_597+21dup	noncoding	Benign
19	1220519	AG	A	G1220526C	STK11	NM_000455.5(STK11):c.597+21del	noncoding	Benign/Likely_benign
19	1220586	GCACCCGTTCGCGGCGGACGA	G	C1220591T	STK11	NM_000455.5(STK11):c.608_627del:p.Pro203fs	coding	Pathogenic
19	1220620	AGCCAGGGCTCCCCG	A	C1220623T	STK11	NM_000455.5(STK11):c.640_653del:p.Gln214fs	coding	Pathogenic
19	1220627	GC	G	C1220628T	STK11	NM_000455.5(STK11):c.645del:p.Ser216fs	coding	Pathogenic
19	1220642	AGCCGCCCGAGATT	A	G1220646A	STK11	NM_000455.5(STK11):c.663_675del:p.Pro222fs	coding	Pathogenic
19	1220649	CGA	C	G1220652T	STK11	NM_000455.5(STK11):c.669_670del:p.Glu223fs	coding	Pathogenic
19	1220658	CA	C	A1220660C	STK11	NM_000455.5(STK11):c.677del:p.Asn226fs	coding	Pathogenic
19	1220729	GC	G	C1220736G	STK11	NM_000455.5(STK11):c.734+19del	noncoding	Benign
19	1221257	T	TCTACAAGTTGTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGTGATTACAGGCGTGAGCCACCGCGCCCGGC	G1221271T	STK11	NM_000455.5(STK11):c.792_793insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGTGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAGTTGTTT:p.Glu265delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuLeuThrSerTer	coding	Pathogenic
19	1221289	AG	A	G1221290C	STK11	NM_000455.5(STK11):c.812del:p.Ser271fs	coding	Pathogenic
19	1221299	TC	T	C1221302G	STK11	NM_000455.5(STK11):c.824del:p.Pro275fs	coding	Pathogenic
19	1221302	CG	C	G1221305C	STK11	NM_000455.5(STK11):c.827del:p.Gly276fs	coding	Pathogenic
19	1221314	G	GCC	G1221321C	STK11	NM_000455.5(STK11):c.841_842dup:p.Leu282fs	coding	Pathogenic
19	1221969	GC	G	C1221971A	STK11	NM_000455.5(STK11):c.885del:p.Lys296fs	coding	Pathogenic
19	1221972	AAG	A	A1221975G	STK11	NM_000455.5(STK11):c.889_890del:p.Arg297fs	coding	Pathogenic
19	1221985	TC	T	C1221987G	STK11	NM_000455.5(STK11):c.901del:p.Arg301fs	coding	Pathogenic
19	1222005	AG	A	G1222007T	STK11	NM_000455.5(STK11):c.920+1del	coding	Pathogenic
19	1223003	TCC	T	C1223004T	STK11	NM_000455.5(STK11):c.940_941del:p.Pro314fs	coding	Pathogenic
19	1223028	AT	A	T1223029C	STK11	NM_000455.5(STK11):c.965del:p.Ile322fs	coding	Pathogenic
19	1223066	C	CATGACTGTGGTGCCGT	C1223084T	STK11	NM_000455.5(STK11):c.1004_1019dup:p.Leu341fs	coding	Pathogenic
19	1223071	CTG	C	T1223074G	STK11	NM_000455.5(STK11):c.1010_1011del:p.Val337fs	coding	Pathogenic
19	1226665	TG	T	G1226669C	STK11	NM_000455.5(STK11):c.*16+6del	noncoding	Benign
19	1387919	GT	G	T1387920G	NDUFS7	NM_024407.5(NDUFS7):c.53+73del	noncoding	Benign
19	1387926	GT	G	T1387927G	NDUFS7	NM_024407.5(NDUFS7):c.53+80del	noncoding	Benign
19	1389044	CAT	C	A1389045G	NDUFS7	NM_024407.5(NDUFS7):c.228+107_228+108del	noncoding	Benign
19	1395488	G	GCGC	G1395509C	NDUFS7	NM_024407.5(NDUFS7):c.*3CCG[7]	coding	Benign
19	1398949	CT	C	T1398951C	GAMT	NM_000156.6(GAMT):c.536del:p.Lys179fs	coding	Pathogenic
19	1398951	T	TC	A1398953C	GAMT	NM_000156.6(GAMT):c.534dup:p.Lys179fs	coding	Pathogenic
19	1398959	T	TC	A1398966C	GAMT	NM_000156.6(GAMT):c.526dup:p.Glu176fs	coding	Pathogenic
19	1399009	CAGGCGAA	C	A1399015T	GAMT	NM_000156.6(GAMT):c.470_476del:p.Phe157fs	coding	Pathogenic
19	1399145	G	GGT	C1399155T	GAMT	NM_000156.6(GAMT):c.440_441dup:p.Gln148fs	coding	Pathogenic
19	1399153	T	TGC	C1399156G	GAMT	NM_000156.6(GAMT):c.432_433dup:p.His145fs	coding	Pathogenic
19	1399171	AGT	A	T1399173G	GAMT	NM_000156.6(GAMT):c.414_415del:p.Ser140fs	coding	Pathogenic
19	1399558	A	AT	C1399560T	GAMT	NM_000156.6(GAMT):c.356dup:p.Asp119fs	coding	Pathogenic
19	1399794	TTG	T	G1399800C	GAMT	NM_000156.6(GAMT):c.324_325del:p.His108fs	coding	Pathogenic
19	1399806	C	CCA	G1399807C	GAMT	NM_000156.6(GAMT):c.313_314insTG:p.Arg105fs	coding	Pathogenic
19	1399812	GC	G	C1399815A	GAMT	NM_000156.6(GAMT):c.307del:p.Ala103fs	coding	Pathogenic
19	1401288	GGGGCTACCTTTGGAGGAGGCGGCGGCGGCCA	G	G1401290C	GAMT	NM_000156.6(GAMT):c.158_181+7del	noncoding	Pathogenic
19	1401305	AGGCGGCGG	A	G1401306C	GAMT	NM_000156.6(GAMT):c.164_171del:p.Ala55fs	coding	Pathogenic
19	1401332	A	AG	T1401338G	GAMT	NM_000156.6(GAMT):c.144dup:p.Tyr49fs	coding	Pathogenic
19	1401412	GC	G	C1401418A	GAMT	NM_000156.6(GAMT):c.64del:p.Ala22fs	coding	Pathogenic
19	1401412	G	GC	A1401419C	GAMT	NM_000156.6(GAMT):c.64dup:p.Ala22fs	coding	Pathogenic
19	1495302	ACT	A	C1495305G	REEP6	NM_138393.4(REEP6):c.127_128del:p.Leu43fs	coding	Pathogenic
19	1495314	CTG	C	G1495316A	REEP6	NM_138393.4(REEP6):c.138_139del:p.Tyr47fs	coding	Pathogenic
19	1496433	C	CG	C1496436G	REEP6	NM_138393.4(REEP6):c.499dup:p.Ala167fs	coding	Pathogenic
19	1496600	T	TG	C1496601G	REEP6	NM_001329556.3(REEP6):c.527_528insG:p.Leu177fs	noncoding	Pathogenic
19	1496717	TGC	T	C1496731T	REEP6	NM_138393.4(REEP6):c.517+265GC[6]	noncoding	Benign
19	1619764	CG	C	G1619768C	TCF3	NM_003200.5(TCF3):c.1167+15del	noncoding	Benign
19	1621972	T	TG	T1621979G	TCF3	NM_003200.5(TCF3):c.823-3dup	noncoding	Benign
19	1622434	T	TG	T1622441G	TCF3	NM_003200.5(TCF3):c.550-20dup	noncoding	Benign
19	1624015	AG	A	G1624019T	TCF3	NM_003200.5(TCF3):c.500-16del	noncoding	Benign
19	2111874	AC	A	C2111875G	AP3D1	NM_001261826.3(AP3D1):c.2788-47del	noncoding	Benign
19	2115629	C	CCAGG	G2115635A	AP3D1	NM_001261826.3(AP3D1):c.2074-20_2074-17dup	noncoding	Benign
19	2123417	GA	G	A2123424C	AP3D1	NM_001261826.3(AP3D1):c.907-12del	noncoding	Benign
19	2129177	AGGGCCTCGGTCACCCGCAGGGAATGCCCCACGCAGGGTGAGGGACAGGGG	A	G2129209A	AP3D1	NM_001261826.3(AP3D1):c.733-64_733-15del	noncoding	Benign
19	2249482	AC	A	C2249483A	AMH	NM_000479.5(AMH):c.151del:p.Gln51fs	coding	Pathogenic
19	2250387	GGAGCTGGCCCCCCA	G	C2250396G	AMH	NM_000479.5(AMH):c.472_485del:p.Pro158fs	coding	Pathogenic
19	2250841	C	CA	C2250843A	AMH	NM_000479.5(AMH):c.665-7dup	noncoding	Benign
19	3113518	CGGCAGCTGCGGGCCG	C	G3113520T	GNA11	NM_002067.5(GNA11):c.476+36_476+50del	noncoding	Benign
19	3121301	A	AT	C3121313T	GNA11	NM_002067.5(GNA11):c.*133dup	noncoding	Benign
19	3121454	T	TAA	G3121471A	GNA11	NM_002067.5(GNA11):c.*290_*291dup	noncoding	Benign
19	3121454	T	TA	G3121471A	GNA11	NM_002067.5(GNA11):c.*291dup	noncoding	Benign
19	3121468	AAAG	A	G3121471A	GNA11	NM_002067.5(GNA11):c.*292_*294del	noncoding	Benign
19	3491746	C	CGGTT	T3491748G	DOHH	NM_001145165.2(DOHH):c.654_655insAACC:p.Glu219fs	coding	Pathogenic
19	3494074	TC	T	C3494076G	DOHH	NM_001145165.2(DOHH):c.304del:p.Glu102fs	coding	Pathogenic
19	3585716	GCA	G	A3585718G	GIPC3	NM_133261.3(GIPC3):c.121_122del:p.Thr41fs	coding	Pathogenic
19	3600825	G	GTT	G3600826T	TBXA2R	NM_001060.6(TBXA2R):c.-83-109_-83-108insAA	noncoding	Benign
19	3600826	G	GT	G3600847T	TBXA2R	NM_001060.6(TBXA2R):c.-83-129dup	noncoding	Benign
19	3600826	G	GTT	G3600847T	TBXA2R	NM_001060.6(TBXA2R):c.-83-129_-83-128dup	noncoding	Benign
19	3638753	TGTGG	T	G3638760C	PIP5K1C	NM_012398.3(PIP5K1C):c.1920+127_1920+130del	noncoding	Benign
19	3653521	GCC	G	C3653526G	PIP5K1C	NM_012398.3(PIP5K1C):c.688_689del:p.Gly230fs	coding	Pathogenic
19	3661319	GC	G	C3661321G	PIP5K1C	NM_012398.3(PIP5K1C):c.351-237del	noncoding	Benign
19	3771335	TGCCTAGAAAAACTCCCCTTTTCCTTCCCAGCTGGCACACTCCTACTCAAATGTCAAAACCTCAGCTCCCACACCCCCTCCTCCAGGAAGCCTTCCTAGCTTCTCTTCTGCTGTTGCTCCGGGAGGGTCAGGATCTTGCTTTGCCTCCCTCCCCAGGTTGCAAAAGATGTGTGTGTTGGGGGGTGCCCTCACCTGCACGCGCACCTCAGGTAGGTGCACCTTGGCTGCCAGCTCCTCACGGCTGTACACATCCGGGTAGTGAGAGGCCTCGAACGCCCGCTCCAGCTGGTGCAGCTGGTAGGTGGTGAAGGTGGTGCGGTTCCTCCGGTGCTTCTTCTTGGGGGCCTCCTCGCCCGGCCCCAGACCCCCACCCTCGGTTGCCGGCCCCTCGCCCGGGCTCAGGAACATGGCTCCCACCTGGTGGGACGGCAGCGGGACAGATGGTGGGGAGACGGCTGGGGGGGCTACCGGCAGGGACAGGGCAGGGGAGCCCCAGGCTTGCCTCCCGGCTCCGGGGAAATCGGTTCCCTCCACTGGGGCCGGCATGCGCTCTGCATCCCCAGGCTGTCCTCCTCGGGCTTGGGGGGGTCTCCTGCTGTGCCTCTGTCTGCTCTTCCTTCTCTCTGTGTGTGTCACCGTCCCTGTTTTCTCTTCCCCTCTCTGTGACTGTCACGGCCTGTGTGTGTGTGTGTCGGCGGGGGGGGGTCAAGGATGCCCCCCCGTCAAGGAAGGCAGGATCCCTTCTCACGCCCTAAGCCCTCCACCCTGAGGGGATCTCTGCCCCCACCACCTCCTACCCAGGCCCACCAGTGCCCACCCCGCACTCACCGCCCACGGCAGCCCCTCCGTCGATTTCCACGGGACACCTGCCCCAGCGGGCCTGGCGCTGCGTCTGCTGTGGCCTGGCCCTGCCGGAGCCGAGCCAGGTCGGGGCTGCGTGGGGGAGGATTAGCTCAAGGTGATTAATTGAGGCGGCCCCTCCCACTTGGTCCTGGGCTGTTCTGAGCCAGGAGGGAGGGCAGGGTGGATGGAGGGCTGGGGCTCTAAGTGGGTGGCTGGGGGGATAGTCTTACAGGCTCCACGGCCCCTTGCCATAAGACGGCAAGGGCCTCTCCCTCTCTGGGCCTCAGTTTCCCTGGCTGTAAAACTGCCACACTAGGACCTACCCTGGGGGGATTTCAGCTTCTCAGAGCATCGCACAGAAATTGGCATACAGGGGGCACTTAATGAATGCTCACTGTTAATATTTTTATCTGCTGGGGGCAGAAAAAGGTGTCTTAGAACTCACAGATGTCAGAGGCAGTTGGGGAAGCTGAGGTCCAGAGGTGAAGGCACTGCAGTTGGTTCCTCTGGACACAAGGGGTAGGGACCCTTTTAGCTGGGTCTGGAGGTATGAATAGACGTTCACCATTCACAGCCGGGCGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGATCATGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTATAACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGCTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAACAAAAAACCAAAACCACCACCAACAAAAAAGAAAAACAGAAGTTCACCATTCAATAAACATTTATTGAGCACTTACTGTGTACCAGGTACTGCTCACAGCAGTAGTGACCAAAACAGACAGAAGTCACGGGGCTGACTTTCTAGCAGGGCAGACAGACAACCAACCACTGTGTTAAAATGCAGAGCGTGGCCAGTGGCCACGAGCCTAGGGAGAAAACCCACGGAGGGGGGCCTGTGGGGGCAAGGTGGGTTGATATTTCATTTAGTTTTTGGGTTTTTTTTTGAGACAGAGTCCTACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCTGCAACCACGCCTGGCTAATTTTTGTATTTTTTAGTAGAGACACGGTTTCGCCACCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCTACCCCGCCTGGCCTATTTTTGTTTTTTTGAGAAGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACAGGTGCGCCACCACGCCCAGCTAATTTTTGTATTTTTACTGAAGATGGGGTTTCACCGTGTTGGCCAGGTTGCTCTTGAACTCCTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCATAGTGCAGGAGTTCCAGGCGTGAGCCACCGCGACCAGTCGGGTTGCTATGTTAAGGAAGGTGGTGAGAATGGAAGATGGAGTGCAAAGCCGCAAGTTCTGGACACATGGGGTGTGAAGGATGGAGTGCTGGGGAACCATGGGAGGTTGTGGAGCAGGGACACAGTGGCATTTTATACAAACATCAATGATGAGCAGCTGAGAAACCAGGGGCAGGTGCCAGGCAGGTGAGGCTACAGGGTCTAGTCAGGCCAAGGGCCGGGGGAGATGGGGAGGACAGAAGGGTGGGGGTAGCAATTCCAGAGGAAGGAAGCTGGAGAGGGGCAGGGTGTGGGTATGGAGGTGCAAGGGCGTTGCCCAGGCCCATTCTGGGCTGTGAGGTGGGACTGTTTCAGAGGCAGAGGCCTGAGAGGTGGAGCGGGCTCCAGGGGAA	T	T3771339C	RAX2	NC_000019.9:g.3771337_3774298del	noncoding	Pathogenic
19	3771511	TG	T	G3771517T	RAX2	NM_001319074.4(RAX2):c.216+15del	noncoding	Benign
19	3908321	CCAGACAG	C	A3908325C	ATCAY	NM_033064.5(ATCAY):c.602_608del:p.Asp201fs	coding	Pathogenic
19	4047918	CG	C	G4047921C	ZBTB7A	NM_015898.4(ZBTB7A):c.1588del:p.Arg530fs	coding	Pathogenic
19	4048010	GCGGCCGCGGCGCGAGGGGACGCCGTTGCAGC	G	G4048013T	ZBTB7A	NM_015898.4(ZBTB7A):c.1466_1496del:p.Gly489fs	coding	Pathogenic
19	4054590	T	TG	C4054592G	ZBTB7A	NM_015898.4(ZBTB7A):c.642dup:p.Asn215fs	coding	Pathogenic
19	4055065	GC	AA	G4055065A	ZBTB7A	NM_015898.4(ZBTB7A):c.167_168delinsTT:p.Ser56Ile	coding	Pathogenic
19	4123554	C	CCCCCTGCCCCGTCCTCCCCCGAGGGT	C4123580T	MAP2K2	NM_030662.4(MAP2K2):c.92+229_92+230insCCCTCGGGGGAGGACGGGGCAGGGGA	noncoding	Benign
19	4123605	GTCCCCTGCCCTGTCCTCCCCTCGAGAA	G	T4123606C	MAP2K2	NM_030662.4(MAP2K2):c.92+152_92+178del	noncoding	Benign
19	4124363	AG	A	G4124364A	MAP2K2	Single_allele	noncoding	Benign
19	4156869	AC	A	C4156870T	CREB3L3	NM_032607.3(CREB3L3):c.157-125del	noncoding	Benign
19	4157197	AG	A	G4157201C	CREB3L3	NM_032607.3(CREB3L3):c.363del:p.Cys123fs	coding	Pathogenic
19	4363567	TGA	T	A4363571G	SH3GL1	NM_003025.4(SH3GL1):c.625-96_625-95del	noncoding	Benign
19	4544285	ACCCTGCG	A	C4544294T	SEMA6B	NM_032108.4(SEMA6B):c.1976_1982del:p.Ala659fs	coding	Pathogenic
19	4544298	C	CGCTCGCCCAGGCGGCTGACG	C4544319G	SEMA6B	NM_032108.4(SEMA6B):c.1950_1969dup:p.Arg657fs	coding	Pathogenic
19	4544337	GC	G	C4544341G	SEMA6B	NM_032108.4(SEMA6B):c.1930del:p.Ala644fs	coding	Pathogenic
19	5131534	GGA	G	A5131538G	KDM4B	NM_015015.3(KDM4B):c.1778_1779del:p.Glu593fs	coding	Pathogenic
19	5135472	C	CG	A5135475G	KDM4B	NM_015015.3(KDM4B):c.2221dup:p.Glu741fs	coding	Pathogenic
19	5691976	T	TCAGTTCTGGCCCAGACAGGGCCTGACATC	G5692007A	LONP1	NM_004793.4(LONP1):c.*27_*55dup	noncoding	Benign
19	5695935	C	CCGG	C5695938G	LONP1	NM_004793.4(LONP1):c.2013+118_2013+119insCGC	noncoding	Benign
19	5705457	C	CAA	G5705478A	LONP1	NM_004793.4(LONP1):c.1367+295_1367+296dup	noncoding	Benign
19	5705457	C	CA	G5705478A	LONP1	NM_004793.4(LONP1):c.1367+295dup	noncoding	Benign
19	5708469	A	AG	C5708471G	LONP1	NM_004793.4(LONP1):c.871-67dup	noncoding	Benign
19	6361315	CA	C	A6361331G	CLPP	Single_allele	noncoding	Benign
19	6361326	A	AT	A6361327T	CLPP	Single_allele	noncoding	Benign
19	6361834	G	GC	G6361839C	CLPP	NM_006012.4(CLPP):c.199-31dup	noncoding	Benign
19	6682522	C	CA	G6682525A	C3	NM_000064.4(C3):c.4173-295dup	noncoding	Benign
19	6686195	CAA	C	A6686197G	C3	NM_000064.4(C3):c.3737_3738del:p.Asp1245_Phe1246insTer	coding	Pathogenic
19	6697203	AT	A	T6697205C	C3	NM_000064.4(C3):c.2796+140del	noncoding	Benign
19	6697989	TTTATTATTA	T	T6698020A	C3	NM_000064.4(C3):c.2441-234TAA[10]	noncoding	Benign
19	6697989	TTTATTATTATTA	T	T6698017A	C3	NM_000064.4(C3):c.2441-234TAA[9]	noncoding	Benign
19	6708096	T	TTCTC	C6708105T	C3	NM_000064.4(C3):c.1846-175GA[6]	noncoding	Benign
19	6708116	TTTTC	T	T6708122C	C3	NM_000064.4(C3):c.1846-191_1846-188del	noncoding	Benign
19	6710419	AAGAGAGAGGGAAAGAGAGATGT	A	G6710440A	C3	NM_000064.4(C3):c.1686+198_1686+219del	noncoding	Benign
19	6710573	GGA	G	A6710591G	C3	NM_000064.4(C3):c.1686+48TC[8]	noncoding	Benign
19	6713976	A	AC	A6713982C	C3	NM_000064.4(C3):c.773+11dup	noncoding	Benign
19	6718306	A	AG	C6718309G	C3	NM_000064.4(C3):c.373dup:p.Leu125fs	coding	Pathogenic
19	6719375	GC	G	C6719376A	C3	NM_000064.4(C3):c.102del:p.Leu34fs	coding	Pathogenic
19	6719658	AG	A	G6719663C	C3	NM_000064.4(C3):c.75-256del	noncoding	Benign
19	6720590	G	GGT	C6720594T	C3	NM_000064.4(C3):c.-3_-2dup	coding	Benign/Likely_benign
19	6828410	TTC	T	T6828415A	VAV1	NM_005428.4(VAV1):c.1024-8TC[2]	noncoding	Benign
19	6828795	A	AC	T6828801C	VAV1	NM_005428.4(VAV1):c.1180-15dup	noncoding	Benign
19	6843115	GTC	G	C6843123G	VAV1	NM_005428.4(VAV1):c.1981-19TC[3]	noncoding	Benign
19	7119625	G	GAC	G7119640A	INSR	NM_000208.4(INSR):c.3660-56GT[8]	noncoding	Benign
19	7122500	AT	A	T7122501C	INSR	NM_000208.4(INSR):c.3529+113del	noncoding	Benign
19	7126878	GT	G	T7126888G	INSR	NM_000208.4(INSR):c.2946-228del	noncoding	Benign
19	7128623	C	CA	T7128635A	INSR	NM_000208.4(INSR):c.2945+218dup	noncoding	Benign
19	7131985	CAA	C	A7131997G	INSR	NM_000208.4(INSR):c.2842+171_2842+172del	noncoding	Benign
19	7143133	A	AT	A7143142T	INSR	NM_000208.4(INSR):c.2268-51dup	noncoding	Benign
19	7153032	ACACACACACCACACAC	A	A7153034C	INSR	NM_000208.4(INSR):c.2030-121_2030-106del	noncoding	Benign
19	7153033	C	CACCACACAT	A7153036C	INSR	NM_000208.4(INSR):c.2030-107_2030-106insGTATGTGTG	noncoding	Benign
19	7153053	CCA	C	A7153065C	INSR	NM_000208.4(INSR):c.2030-138TG[5]	noncoding	Benign
19	7153054	CA	C	A7153055C	INSR	NM_000208.4(INSR):c.2030-128del	noncoding	Benign
19	7153094	TACAC	T	A7153099C	INSR	NM_000208.4(INSR):c.2030-175GT[2]	noncoding	Benign
19	7162903	AGT	A	T7162917C	INSR	NM_000208.4(INSR):c.2029+115AC[6]	noncoding	Benign
19	7174291	CTAAAAA	C	A7174314T	INSR	NM_000208.4(INSR):c.1123+268TTTTTA[3]	noncoding	Benign
19	7184645	GA	G	A7184646G	INSR	NM_000208.4(INSR):c.653-9del	noncoding	Benign/Likely_benign
19	7184663	GAAATAAAT	G	A7184700G	INSR	NM_000208.4(INSR):c.653-70ATTT[9]	noncoding	Benign
19	7184663	GAAAT	G	A7184704G	INSR	NM_000208.4(INSR):c.653-70ATTT[10]	noncoding	Benign
19	7184663	G	GAAAT	G7184708A	INSR	NM_000208.4(INSR):c.653-70ATTT[12]	noncoding	Benign
19	7184810	CAT	C	A7184811G	INSR	NM_000208.4(INSR):c.653-175_653-174del	noncoding	Benign
19	7267266	AT	A	T7267271A	INSR	NM_000208.4(INSR):c.652+78del	noncoding	Benign
19	7439966	TG	T	G7439967C	ARHGEF18	NM_001367823.1(ARHGEF18):c.968-377del	coding	Pathogenic
19	7440040	AGGCATAAAAAC	A	A7440044G	ARHGEF18	NM_001367823.1(ARHGEF18):c.968-300_968-290del	coding	Pathogenic
19	7447178	A	AT	A7447190T	ARHGEF18	NM_001367823.1(ARHGEF18):c.1737+21dup	noncoding	Benign
19	7447178	AT	A	T7447189A	ARHGEF18	NM_001367823.1(ARHGEF18):c.1737+21del	noncoding	Benign
19	7467689	GCG	ATA	G7467689A	ARHGEF18	NM_001367823.1(ARHGEF18):c.3480+5_3480+7delinsATA	noncoding	Benign
19	7467690	CG	TA	C7467690T	ARHGEF18	NM_001367823.1(ARHGEF18):c.3480+6_3480+7delinsTA	noncoding	Benign
19	7469068	T	TC	A7469071C	ARHGEF18	NM_001367823.1(ARHGEF18):c.3726dup:p.Thr1243fs	coding	Pathogenic
19	7470516	CT	C	T7470529C	ARHGEF18	NM_001367823.1(ARHGEF18):c.*231del	noncoding	Benign
19	7521735	TCAAGCGATCCTCCCACCTTAGCCTCCCGAGTAGCTGGGATTGCCGGTGCATGCCACCGCCCACTGCGCTCAGCTTGGAGTTGAAGGGACTCTGGAAGATGTAGAAGTGGCATTGTCAGTGCCTAGATTTAAATCCCAATTGCCCTCCAGGGTCCAAATTCTTAACCATTACGCTCCAGGGCAAAAGTATGCAAAGGCTCTGGGGCTATAGAAAGATGAGCTTTGGATGGAGGTAGGAGCCAGATCAGAGGGCCCTGATAGACGAGAGTGGGGACTCTGCCTGTCATTACAGAGCAATGGGAAGCCGAGGGCAGGTTCTCGCAGGAAGGATAGGAATTATTCTTTGAAGATGCTTGTGGCTGCTGGGTAGAGAGTGGAGTGGAGGGAGGCTGAGATCGGGGAGGAGGTTGCTGCAAAGATCCAGGCCAGGAATGTTGGAAGACTCTGGGCTGGGGGCCATGGGGTGGGGATAAGTGGTTCTATTTGATACATAATTAGGAAATCGTGTTTGCTGAAGATGCGCAGGAGAAGGGTAAAAGGAGTTTCTGGGAGAAAGAGGAAGACAGCGTTGAGATAGTAGGCAGGGTCATCACCAGGCACCAAGGAGGATAAGGGGTCAAGCTCTGGACATGGAAGTCACAAGCCTGGCACCGGATTCGGGGCATGGCCGGGAGCCAGGGCAGAGCTCGTCGTTGCCAAACTCAGAGTCAGCCCATCCCCCGCCACCCAGAGCGCGTCGGCGCTAGGACCTAGCGACTGCCTTCGACCCAGAGGGCGCCGGCAGAGGCACGCATGCGCGCTGTTCCGGCAGGGGTTGTCGTGGCGCAGGGGGCGGGACCAGAGGCGGTCACGTGAGGGGCTCTGGGCTACCGGGTCACGTGACCGAGGCACAGATCAGCTGATGCCGGAGGGTTTGAAGCCGCGCCGCGAGGGAGCGAGGTCGCAGTGACAGCGGCGGGCGATCGGACCCAGGCTGCCCCGCCGTACCCGCCTGCGTCCCGCGCTCCCGCCCCAGCATGACAGCCCCGGCGGGTCCGCGCGGCTCAGGTGAGGGCGCGGGCGGCACCGTGGGGCCCCGAACTCAGGCGGGCGGGCTGTGTCTCCCACCTGGGGCGGCGGAGCTCCTAGTCTCTTTTTTTCTAAGCTCCAGCGCTGACTTTTCACGGTGGAGAAAAGGGCAGACGGCTCCTAGAACTTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGATTAACTCAGTTTTAGCTTTCCAAACCGCTGGAAGCGCAGCCTTCTTAAATTCGGGCTTCTAGCCAATTCTGATGCCACCCCTCCTCGGGGAGGCTGGAGGAAGACCCCTTGTGTTAGCTTCCCCTTCTGGAGCTAGCTGGGGACCCCTACCTGATAGATGTCCCGGTGTCCCAGCTAGTAGGGTCTGGGGTGGGTTAGCTGTAATCTCAGCTCTGTAAGCGGGCCCTGCCCTCTGGCTTTGTCGTAAACAGCCACAGCAGCATCTCATTGCAAAGGGAGGGGCCGGGAACTTGTCCCTCTCTGCAAGGGAGGTTCTGACAGTGCACACATTTATCCTGACTGCTTTGCTAGGCAGGAGGCCAGGCCCTAGAAAGCAGCACGGGGCCAGGCCCTAGAAAGCACATCCCCATGGGGGTGTGACAGGGACAGTTTTGGGCTACTGTGACTGGTTTTGACTCCAGCAGTTGCTGAAAGCTTAGATCTAACCATTAGGCTGGAAAAAAATAAACAGTGATTAGAACAGCTTGTGTTTGCTGAAGAGGTCTTTATCTGCTGTGTCTCACTGAATTCTCAGAGCAGCTTCAGGATCTCAACCTCAAGGCTCAGGGAGAGGGTGGACTTTTTTTTTTTTTAATAAACTTTTTTTTGTTGCCCAGGCTGTAGTGCAGTGGCATAATCCTAGCTCATTGTAACATCGAACTCCTGGGCTCAAGTGATCCTCCCAACTCAGCCTCCCGGGTAGATGGGGTCCCAGCTACTAACTACGGGCATGAGCCGTCACACCTGACTATTTAAAAAAAATGTTTTTTTTTTGTAGACAGGGAGGTCTCGCTGTATTACCTAGGCTGGATCCTCCCACCTTGGCCTCCCAAAGCCGTTGGGATAACAGGCATGAGCCACTGAGCCCAGCCAAGGGGTCGCCTTTTTAAAATTTCCACTCTTCAGATGAGGAGATGGAGGCTCAGGGAGGTACCTGGAGTCAACCTACTGTAAAGTGGCAGGTCTGGGATTTGATGCTAGGGCTGCATGATTTCTAGGAGCTGGTGCTTTTCAGGGAGATAAAATGAGTCTTTAGCGAATGTGTTCCATTATTATTACTTATGTTGTCAATTACCTCTTCTCCAGGTCCTTGGCTTCTGAGAGTGTCAGCTGATGGGCCAGGTTATAATGAACCCAGAGGTCATCTTTTGGGTATTTGTCCAGACAAACCTAGAATACAGGCTGAGTTCTATGCTCATGTCTGGAAGCTGGAGTTGGGATAAGCCCAGCAGGCTTGAACGCCCAGTGAAAAGCCAGTGGGAGCAGTTCATTCTCTCCCCACTGATCAATAACGGGAACATTGATGAAATGTTCTGACATTCACCATGGACCAGCCCCTGTGATCAATGCTTCATAAGCATCCAGTCCTTAGCGTTCCCATGAGACATATTATTGCCCCATTTCGCAGATGAGGAAACTGAGGCTCAGAGAGCTGGTGAGCAGGAGGGGCAGGAATCAGCCCAGGCCCTGTACCTCCCAAACCCAAACTCATAACCTCTGAGCAGGACGGGTGCATAGATACCTACAATGTCACAGGTTTTCTGGTTTTCTTTAGACCTCTCAGAGCTCTTCCTTGGCAGGAGCATGGGGACATGAAGATAGGGCGTGTGCTGCCTTCCTGGTTGGAGAAAGGGGAAAAGGGGAGTTGCCCAGGCCTCACCCCAGTGCCCTCTCCTATTCCCACAGAGACCGAGCGGCTTCTGACCCCCAACCCCGGGTATGGGACCCAGGCGGGGCCTTCACCGGCCCCTCCGACACCCCCAGAAGAGGAAGACCTTCGCCGTCGTCTCAAATACTTTTTCATGAGTCCCTGCGACAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCTGATGCTGCAAGTGGTCAAGATCCTGGTGGTCACGGTGCAGGTGAGGCCAGCCAAGCAGGGGCCCCAGCTGAAGGCCACCTGTGGCTGCTGTGCTCCTTGAAGAGAGTCTTAAAGCAGCACTTTGGAAGGCCGAGGCCGGTGGATCGCTTGAGGCTGGGAGTTCAAGACCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGTGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGCTTGAATTGGGAGGCGGAGGTTGCCGTGAGCTGAAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAGAAGCCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGAC	T	C7521736A	MCOLN1	NM_020533.2(MCOLN1):c.-1015_789del	noncoding	Pathogenic
19	7525020	G	GC	T7525025C	MCOLN1	NM_020533.3(MCOLN1):c.95dup:p.Pro33fs	coding	Pathogenic
19	7525093	AG	A	G7525094T	MCOLN1	NM_020533.3(MCOLN1):c.165del:p.Lys55fs	coding	Pathogenic
19	7525158	AC	A	C7525159G	MCOLN1	NM_020533.3(MCOLN1):c.230del:p.Thr77fs	coding	Pathogenic
19	7526477	AT	A	T7526479C	MCOLN1	NM_020533.3(MCOLN1):c.278del:p.Phe93fs	coding	Pathogenic
19	7526772	GC	G	C7526774T	MCOLN1	NM_020533.3(MCOLN1):c.419del:p.Pro140fs	coding	Pathogenic
19	7526857	CG	C	G7526859T	MCOLN1	NM_020533.3(MCOLN1):c.504del:p.Tyr169fs	coding	Pathogenic
19	7527271	CAA	C	A7527294C	MCOLN1	NM_020533.3(MCOLN1):c.572-226_572-225del	noncoding	Benign
19	7527271	CA	C	A7527295C	MCOLN1	NM_020533.3(MCOLN1):c.572-225del	noncoding	Benign
19	7527271	C	CA	C7527296A	MCOLN1	NM_020533.3(MCOLN1):c.572-225dup	noncoding	Benign
19	7527536	TC	T	C7527542G	MCOLN1	NM_020533.3(MCOLN1):c.594del:p.Glu199fs	coding	Pathogenic
19	7527905	AC	A	C7527907T	MCOLN1	NM_020533.3(MCOLN1):c.724del:p.Leu242fs	coding	Pathogenic
19	7527966	GC	G	C7527972G	MCOLN1	NM_020533.3(MCOLN1):c.777+12del	noncoding	Benign
19	7527966	G	GC	G7527973C	MCOLN1	NM_020533.3(MCOLN1):c.777+12dup	noncoding	Benign/Likely_benign
19	7528666	G	GC	G7528668C	MCOLN1	NM_020533.3(MCOLN1):c.948dup:p.Ala317fs	coding	Pathogenic
19	7530164	GGCCATTCATGTGGGGCCCCA	G	T7530169C	MCOLN1	NM_020533.3(MCOLN1):c.1360-117_1360-98del	noncoding	Benign
19	7535826	C	CG	C7535832G	PNPLA6	NM_001166114.2(PNPLA6):c.43dup:p.Ala15fs	coding	Pathogenic
19	7539757	C	CA	G7539781A	PNPLA6	NM_001166114.2(PNPLA6):c.414-138dup	noncoding	Benign
19	7539962	AG	A	G7539963C	PNPLA6	NM_001166114.2(PNPLA6):c.459del:p.Glu153fs	coding	Pathogenic
19	7540290	GCT	G	C7540293G	PNPLA6	NM_001166114.2(PNPLA6):c.699_700del:p.Cys234fs	coding	Pathogenic
19	7542043	G	GT	C7542045T	PNPLA6	NM_001166114.2(PNPLA6):c.1229dup:p.Ser411fs	coding	Pathogenic
19	7542541	GC	G	C7542547T	PNPLA6	NM_001166114.2(PNPLA6):c.1253-14del	noncoding	Benign
19	7549978	CGT	C	T7549982C	PNPLA6	NM_001166114.2(PNPLA6):c.1684_1685del:p.Cys562fs	coding	Pathogenic
19	7549989	T	TC	G7549991C	PNPLA6	NM_001166114.2(PNPLA6):c.1692dup:p.Val565fs	coding	Pathogenic
19	7550796	GA	G	A7550801G	PNPLA6	NM_001166114.2(PNPLA6):c.2070+161del	noncoding	Benign
19	7553895	C	CCA	T7553901A	PNPLA6	NM_001166114.2(PNPLA6):c.2285_2286dup:p.Ser763fs	coding	Pathogenic
19	7554537	G	GC	T7554543C	PNPLA6	NM_001166114.2(PNPLA6):c.2466-13dup	noncoding	Benign
19	7555267	G	GTT	C7555272T	PNPLA6	NM_001166114.2(PNPLA6):c.2839_2840dup:p.Arg949fs	coding	Pathogenic
19	7555605	A	AG	C7555610G	PNPLA6	NC_000019.9:g.7620491_7620492insG	noncoding	Pathogenic
19	7556438	G	GC	T7556443C	PNPLA6	NM_001166114.2(PNPLA6):c.3094-11dup	noncoding	Benign
19	7556560	G	GCAGA	T7556565C	PNPLA6	NM_001166114.2(PNPLA6):c.3202_3205dup:p.Ile1069fs	coding	Pathogenic
19	7557246	AC	A	C7557248T	PNPLA6	NM_001166114.2(PNPLA6):c.3361del:p.Leu1121fs	coding	Pathogenic
19	7558832	AC	A	C7558838T	PNPLA6	NM_001166114.2(PNPLA6):c.3398-12del	noncoding	Benign
19	7560978	G	GC	T7560986C	PNPLA6	NM_001166114.2(PNPLA6):c.3817-29dup	noncoding	Benign
19	7561081	C	CG	A7561083G	PNPLA6	NM_001166114.2(PNPLA6):c.3885dup:p.Ser1296fs	coding	Pathogenic
19	7561127	A	AC	A7561134C	PNPLA6	NM_001166114.2(PNPLA6):c.3913+23dup	noncoding	Benign
19	7561272	A	AG	T7561279G	PNPLA6	NM_001166114.2(PNPLA6):c.3984dup:p.Ser1329fs	coding	Pathogenic
19	7639825	CGT	C	G7639832A	STXBP2	NM_006949.4(STXBP2):c.246+19GT[3]	noncoding	Benign
19	7640764	AC	A	C7640768G	STXBP2	NM_006949.4(STXBP2):c.284del:p.Pro95fs	coding	Pathogenic
19	7641814	GC	AA	G7641814A	STXBP2	NM_006949.4(STXBP2):c.539_540delinsAA:p.Cys180Ter	coding	Pathogenic
19	7642059	GC	G	C7642062A	STXBP2	NM_006949.4(STXBP2):c.607del:p.His203fs	coding	Pathogenic
19	7642134	TG	T	G7642137A	STXBP2	NM_006949.4(STXBP2):c.663+19del	noncoding	Benign
19	7642242	CG	C	G7642245C	STXBP2	NM_006949.4(STXBP2):c.706del:p.Ala236fs	coding	Pathogenic
19	7643147	C	CCACCCTG	G7643164C	STXBP2	NM_006949.4(STXBP2):c.1027-17CACCCTG[3]	noncoding	Benign
19	7644651	TC	T	C7644652A	STXBP2	NM_006949.4(STXBP2):c.1146del:p.Lys383fs	coding	Pathogenic
19	7645591	C	CAGGGAGT	T7645603A	STXBP2	NM_006949.4(STXBP2):c.1356+290_1356+296dup	noncoding	Benign
19	7647257	CG	C	G7647261C	STXBP2	NM_006949.4(STXBP2):c.1538+14del	noncoding	Benign
19	7931102	T	TA	G7931116A	TIMM44	NM_006351.4(TIMM44):c.1038+23dup	noncoding	Benign
19	7935167	CTT	C	T7935186G	TIMM44	NM_006351.4(TIMM44):c.313-24_313-23del	noncoding	Benign
19	8121397	A	AG	C8121403G	FBN3	NM_032447.5(FBN3):c.3083-12dup	noncoding	Benign
19	8304194	CA	C	A8304201T	CD320	NM_016579.4(CD320):c.269-107del	noncoding	Benign
19	8525199	CA	C	A8525222G	MYO1F	NM_012335.4(MYO1F):c.2854+279del	noncoding	Benign
19	8526349	G	GTC	G8526367C	MYO1F	NM_012335.4(MYO1F):c.2770+88GA[9]	noncoding	Benign
19	8526349	G	GTCTC	G8526367C	MYO1F	NM_012335.4(MYO1F):c.2770+88GA[10]	noncoding	Benign
19	8536047	CACTT	C	A8536048G	MYO1F	NM_012335.4(MYO1F):c.2043+201_2043+204del	noncoding	Benign
19	8536167	G	GTC	A8536186T	MYO1F	NM_012335.4(MYO1F):c.2043+67GA[10]	noncoding	Benign
19	8536167	G	GTCTC	A8536186T	MYO1F	NM_012335.4(MYO1F):c.2043+67GA[11]	noncoding	Benign
19	8537074	C	CAG	G8537075A	MYO1F	NM_012335.4(MYO1F):c.1693-20_1693-19insCT	noncoding	Benign
19	8540084	CT	C	T8540086C	MYO1F	NM_012335.4(MYO1F):c.1611-57del	noncoding	Benign
19	8552266	C	CT	G8552277T	MYO1F	NM_012335.4(MYO1F):c.505-112dup	noncoding	Benign
19	8554418	G	GTGA	T8554424A	MYO1F	NM_012335.4(MYO1F):c.326+56_326+58dup	noncoding	Benign
19	8580654	A	AG	T8580662G	ADAMTS10	NM_030957.4(ADAMTS10):c.*238dup	noncoding	Benign/Likely_benign
19	8585114	TG	T	G8585118C	ADAMTS10	NM_030957.4(ADAMTS10):c.3042+17del	noncoding	Benign
19	8586667	T	TG	T8586674G	ADAMTS10	NM_030957.4(ADAMTS10):c.2293dup:p.Gln765fs	coding	Pathogenic
19	8592109	T	TG	A8592116G	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-7dup	coding	Benign
19	8592190	C	CAG	T8592196G	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-91CT[3]	coding	Benign
19	8592208	C	CGGGATGGGGCTGGAAG	C8592217G	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-106_1588-105insCCCATCCCCTTCCAGC	noncoding	Benign
19	8592242	CAG	C	A8592245T	ADAMTS10	NM_030957.4(ADAMTS10):c.1588-141_1588-140del	noncoding	Benign
19	8597065	A	ATGGATTTC	C8597076G	ADAMTS10	NM_030957.4(ADAMTS10):c.954_961dup:p.Ile321fs	coding	Pathogenic
19	8601104	AGGTCCGCAGCC	A	G8601105A	ADAMTS10	NM_030957.4(ADAMTS10):c.623_633del:p.Trp208fs	coding	Pathogenic
19	8601362	CT	C	T8601379G	ADAMTS10	NM_030957.4(ADAMTS10):c.593-218del	noncoding	Benign
19	8605141	GACGTGCCCTGCCAGTAGACGGGAGCT	G	A8605142G	ADAMTS10	NM_030957.4(ADAMTS10):c.280_305del:p.Ser94fs	coding	Pathogenic
19	9295777	GATAA	G	T9295783G	ZNF699	NM_198535.3(ZNF699):c.1623_1626del:p.Tyr542fs	coding	Pathogenic
19	9296079	C	CT	G9296083T	ZNF699	NM_198535.3(ZNF699):c.1324dup:p.Ser442fs	coding	Pathogenic
19	9297326	TAATC	T	C9297330A	ZNF699	NM_198535.3(ZNF699):c.436_439del:p.Asp146fs	coding	Pathogenic
19	9297416	A	AT	C9297423T	ZNF699	NM_198535.3(ZNF699):c.349dup:p.Ile117fs	coding	Pathogenic
19	9302387	CCAGGTTC	TAAGAA	C9302387T	ZNF699	NM_198535.3(ZNF699):c.159_166delinsTTCTTA:p.Gln53fs	coding	Pathogenic
19	9302498	CTGAG	C	G9302500C	ZNF699	NM_198535.3(ZNF699):c.51_54del:p.Asp17fs	coding	Pathogenic
19	9860477	G	GA	G9860493A	OLFM2	NM_058164.4(OLFM2):c.213+153dup	noncoding	Benign
19	9861116	CAAAT	C	A9861119C	OLFM2	NM_058164.4(OLFM2):c.64-326_64-323del	noncoding	Benign
19	9936453	CCCGG	C	C9936458G	OLFM2	NM_058164.4(OLFM2):c.-95CCGG[1]	noncoding	Benign
19	10154209	CAG	C	G10154215A	DNMT1	NM_001130823.3(DNMT1):c.2019+78CT[2]	noncoding	Benign
19	10162620	GAA	G	A10162639G	DNMT1	NM_001130823.3(DNMT1):c.1008+45_1008+46del	noncoding	Benign
19	10162620	GA	G	A10162640G	DNMT1	NM_001130823.3(DNMT1):c.1008+46del	noncoding	Benign
19	10162620	G	GA	G10162641A	DNMT1	NM_001130823.3(DNMT1):c.1008+27dup	noncoding	Benign
19	10180646	T	TTCA	G10180677T	DNMT1	NM_001130823.3(DNMT1):c.225+102TGA[11]	noncoding	Benign
19	10180646	T	TTCATCA	G10180677T	DNMT1	NM_001130823.3(DNMT1):c.225+102TGA[12]	noncoding	Benign
19	10194801	T	TC	A10194809C	DNMT1	NM_001130823.3(DNMT1):c.80+18dup	noncoding	Benign
19	10195120	A	AC	A10195129C	DNMT1	Single_allele	noncoding	Benign
19	10315316	TGG	T	G10315318T	FDX2	NM_001397406.1(FDX2):c.307+68_307+69del	noncoding	Benign
19	10315316	TG	T	G10315319T	FDX2	NM_001397406.1(FDX2):c.307+69del	noncoding	Benign
19	10315318	G	GT	G10315319T	FDX2	NM_001397406.1(FDX2):c.307+67_307+68insA	noncoding	Benign
19	10315319	G	GT	G10315339T	FDX2	NM_001397406.1(FDX2):c.307+66dup	noncoding	Benign
19	10315319	G	GTTTT	G10315339T	FDX2	NM_001397406.1(FDX2):c.307+63_307+66dup	noncoding	Benign
19	10315319	G	GTTTTT	G10315339T	FDX2	NM_001397406.1(FDX2):c.307+62_307+66dup	noncoding	Benign
19	10356765	CA	C	A10356767C	TYK2	NM_003331.5(TYK2):c.2467-48del	noncoding	Benign
19	10362183	T	TG	C10362189G	TYK2	NM_003331.5(TYK2):c.1670-3dup	noncoding	Benign
19	10362247	T	TC	T10362253C	TYK2	NM_003331.5(TYK2):c.1669+16dup	noncoding	Benign
19	10367919	CA	C	A10367933G	TYK2	NM_003331.5(TYK2):c.465+135del	noncoding	Benign
19	10499525	GCACGGACAACGCTGTCGATCTGGTACATGACAGCACCGTTCATGACGTGGAGGACACACTTCTCGCC	G	C10499528T	KEAP1	NM_203500.2(KEAP1):c.442_508del:p.Gly148fs	coding	Pathogenic
19	10717816	C	CT	C10717822T	DNM2	Single_allele	noncoding	Benign
19	10777086	G	GCCTCTGA	G10777107A	DNM2	NM_001005361.3(DNM2):c.590-31CCTCTGA[3]	noncoding	Benign/Likely_benign
19	10823776	AC	A	C10823783G	DNM2	NM_001005361.3(DNM2):c.1782-5del	noncoding	Benign/Likely_benign
19	10985382	G	GC	A10985387C	SMARCA4	NM_003072.5(SMARCA4):c.336dup:p.Met113fs	coding	Pathogenic
19	10986306	AC	A	C10986311A	SMARCA4	NM_003072.5(SMARCA4):c.478del:p.Gln160fs	coding	Pathogenic
19	10986406	CA	C	A10986407G	SMARCA4	NM_003072.5(SMARCA4):c.574del:p.Arg192fs	coding	Pathogenic
19	10986927	TC	T	C10986932A	SMARCA4	NM_003072.5(SMARCA4):c.788del:p.Pro263fs	coding	Pathogenic
19	10986948	G	GC	G10986955C	SMARCA4	NM_003072.5(SMARCA4):c.810dup:p.Gly271fs	coding	Pathogenic
19	10986969	GCC	G	C10986970T	SMARCA4	NM_003072.5(SMARCA4):c.826_827del:p.Pro276fs	coding	Pathogenic
19	10987713	ATTCCCCCGCAGCCAACGGGCCGCCC	A	A10987723G	SMARCA4	NM_003072.5(SMARCA4):c.917_941del:p.Gln306fs	coding	Pathogenic
19	10989373	TG	T	G10989375C	SMARCA4	NM_003072.5(SMARCA4):c.1177del:p.Ala393fs	coding	Pathogenic
19	10994880	G	GGCAAA	A10994881G	SMARCA4	NM_003072.5(SMARCA4):c.1472_1473insGCAAA:p.Ser492fs	coding	Pathogenic
19	10996193	T	TA	C10996196A	SMARCA4	NM_003072.5(SMARCA4):c.1594-18dup	noncoding	Benign
19	10996263	GC	G	C10996264G	SMARCA4	NM_003072.5(SMARCA4):c.1645del:p.Arg549fs	coding	Pathogenic
19	10996334	AG	A	G10996336C	SMARCA4	NM_003072.5(SMARCA4):c.1717del:p.Ala573fs	coding	Pathogenic
19	11002799	CAA	C	A11002820G	SMARCA4	NM_003072.5(SMARCA4):c.1813-209_1813-208del	noncoding	Benign
19	11002799	CA	C	A11002821G	SMARCA4	NM_003072.5(SMARCA4):c.1813-208del	noncoding	Benign
19	11003020	C	CT	C11003026T	SMARCA4	NM_003072.5(SMARCA4):c.1813-4dup	noncoding	Benign
19	11003038	GA	G	A11003039G	SMARCA4	NM_003072.5(SMARCA4):c.1823del:p.Glu608fs	coding	Pathogenic
19	11003107	A	AC	A11003109C	SMARCA4	NM_003072.5(SMARCA4):c.1892dup:p.Asp632fs	coding	Pathogenic
19	11003124	C	CG	C11003128G	SMARCA4	NM_003072.5(SMARCA4):c.1911dup:p.Gln638fs	coding	Pathogenic
19	11008009	GCGGCA	G	G11008011A	SMARCA4	NM_003072.5(SMARCA4):c.2111_2115del:p.Arg704fs	coding	Pathogenic
19	11010489	GCAGT	G	T11010493C	SMARCA4	NM_003072.5(SMARCA4):c.2236_2239del:p.Ser746fs	coding	Pathogenic
19	11019609	CG	C	G11019612C	SMARCA4	NM_003072.5(SMARCA4):c.2527del:p.Ala843fs	coding	Pathogenic
19	11021886	CT	C	T11021888C	SMARCA4	NM_003072.5(SMARCA4):c.2780del:p.Phe927fs	coding	Pathogenic
19	11021943	AC	A	C11021946T	SMARCA4	NM_003072.5(SMARCA4):c.2838del:p.Phe947fs	coding	Pathogenic
19	11021962	GA	C	G11021962C	SMARCA4	NM_003072.5(SMARCA4):c.2854_2855delinsC:p.Glu952fs	coding	Pathogenic
19	11023505	TG	T	G11023510C	SMARCA4	NM_003072.5(SMARCA4):c.2860-8del	noncoding	Benign
19	11025467	CG	C	G11025469A	SMARCA4	NM_003072.5(SMARCA4):c.3129del:p.Lys1044fs	coding	Pathogenic
19	11026340	T	TC	A11026343C	SMARCA4	NM_003072.5(SMARCA4):c.3211dup:p.Gln1071fs	coding	Pathogenic
19	11026497	C	CT	G11026517T	SMARCA4	NM_003072.5(SMARCA4):c.3215+170dup	noncoding	Benign
19	11026497	CT	C	T11026516G	SMARCA4	NM_003072.5(SMARCA4):c.3215+170del	noncoding	Benign
19	11033282	T	TC	A11033288C	SMARCA4	NM_003072.5(SMARCA4):c.3547-3dup	noncoding	Benign
19	11033815	GC	G	C11033819T	SMARCA4	NM_003072.5(SMARCA4):c.3827del:p.Pro1276fs	coding	Pathogenic
19	11034121	AG	A	G11034123A	SMARCA4	NM_001128849.1(SMARCA4):c.3874delG	noncoding	Pathogenic
19	11034964	GC	G	C11034966G	SMARCA4	NM_003072.5(SMARCA4):c.4004del:p.Pro1335fs	coding	Pathogenic
19	11058106	C	CA	G11058120A	SMARCA4	NM_003072.5(SMARCA4):c.4425-136dup	noncoding	Benign
19	11059894	C	CG	T11059902G	SMARCA4	NM_003072.5(SMARCA4):c.4768+16dup	noncoding	Benign
19	11059894	CG	C	G11059901T	SMARCA4	NM_003072.5(SMARCA4):c.4768+16del	noncoding	Benign
19	11060198	G	GC	G11060204C	SMARCA4	NM_003072.5(SMARCA4):c.4911+16dup	noncoding	Benign
19	11100251	CCAGTGCCAAGACGGGAAAT	C	C11100252G	LDLR	NM_000527.5(LDLR):c.97_115del:p.Gln33fs	coding	Pathogenic
19	11100256	GC	G	C11100258A	LDLR	NM_000527.5(LDLR):c.103del:p.Gln35fs	coding	Pathogenic
19	11100263	C	CT	G11100264T	LDLR	NM_000527.5(LDLR):c.108_109insT:p.Gly37fs	coding	Pathogenic
19	11100270	T	TG	C11100272G	LDLR	NM_000527.5(LDLR):c.116dup:p.Cys39fs	coding	Pathogenic
19	11100290	CTGCGATG	C	T11100291G	LDLR	NM_000527.5(LDLR):c.136_142del:p.Cys46fs	coding	Pathogenic
19	11102666	TCTGTCACCT	GGACTTCA	T11102666G	LDLR	NM_000527.5(LDLR):c.193_202delinsGGACTTCA:p.Ser65fs	coding	Pathogenic
19	11102705	CG	C	G11102706T	LDLR	NM_000527.5(LDLR):c.233del:p.Arg78fs	coding	Pathogenic/Likely_pathogenic
19	11105224	CAA	C	A11105225G	LDLR	NM_000527.5(LDLR):c.319_320del:p.Lys107fs	coding	Pathogenic
19	11105239	G	GGACGAGTTTCGCTGCC	A11105256G	LDLR	NM_000527.5(LDLR):c.334_349dup:p.His117fs	coding	Pathogenic
19	11105319	CAG	C	G11105321C	LDLR	NM_000527.5(LDLR):c.415_416del:p.Asp139fs	coding	Pathogenic
19	11105511	TC	T	C11105513A	LDLR	NM_000527.5(LDLR):c.607del:p.His203fs	coding	Pathogenic
19	11105521	AAGTGGCG	A	G11105526C	LDLR	NM_000527.5(LDLR):c.620_626del:p.Gly207fs	coding	Pathogenic
19	11105550	GCTGTGATGGTGGCCCCGA	G	T11105554C	LDLR	NM_000527.5(LDLR):c.648_665del:p.Asp217_Cys222del	coding	Pathogenic
19	11105582	T	TCTGA	G11105588T	LDLR	NM_000527.5(LDLR):c.678_681dup:p.Glu228Ter	coding	Pathogenic
19	11105583	CT	C	T11105584G	LDLR	NM_000527.5(LDLR):c.678del:p.Asp227fs	coding	Pathogenic
19	11105588	G	GGTATGGACTGCA	A11105589G	LDLR	NM_000527.5(LDLR):c.682_683insGTATGGACTGCA:p.Glu228delinsGlyMetAspCysLys	coding	Pathogenic
19	11106646	ATGAC	A	A11106649C	LDLR	NM_000527.5(LDLR):c.779_782del:p.Asp260fs	coding	Pathogenic/Likely_pathogenic
19	11106687	G	GGCT	T11106689C	LDLR	NM_000527.5(LDLR):c.817+1_817+2insCTG	coding	Pathogenic
19	11107478	TG	T	G11107479C	LDLR	NM_000527.5(LDLR):c.905del:p.Cys302fs	coding	Pathogenic/Likely_pathogenic
19	11110719	C	CGAGT	C11110725A	LDLR	NM_000527.5(LDLR):c.1010_1013dup:p.Cys338Ter	coding	Pathogenic
19	11110747	C	CT	G11110749T	LDLR	NM_000527.5(LDLR):c.1037dup:p.Val347fs	coding	Pathogenic
19	11111521	T	TGA	T11111525A	LDLR	NM_000527.5(LDLR):c.1070_1071dup:p.Cys358fs	coding	Pathogenic
19	11111616	AC	A	C11111617A	LDLR	NM_000527.5(LDLR):c.1164del:p.His388fs	coding	Pathogenic
19	11111619	CG	C	G11111620A	LDLR	NM_000527.5(LDLR):c.1167del:p.Lys390fs	coding	Pathogenic
19	11111620	GA	G	A11111622G	LDLR	NM_000527.5(LDLR):c.1169del:p.Lys390fs	coding	Pathogenic
19	11111622	AG	A	G11111624C	LDLR	NM_000527.5(LDLR):c.1171del:p.Ala391fs	coding	Pathogenic
19	11111627	T	TGCAAG	T11111635A	LDLR	NM_000527.5(LDLR):c.1177_1181dup:p.Val395fs	coding	Pathogenic
19	11113277	GG	TA	G11113277T	LDLR	NM_000527.5(LDLR):c.1187-1_1187delinsTA	noncoding	Pathogenic
19	11113286	GCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGGCTCCTGGCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAGGGAATGGAGGGAGCAGGAAGGAGCTTCAGGAACTGGTTAGTGGGCTGGGCATGGTGGCTCAAAGCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTGCGGGTGAAGGTGGGCCCGCTATGGCCAGCGTCCCTTTTTATTTTTATTTATTTATTTATTTGAGATGGAATCTCGCTCTGTCGCCCAGACTGTAGTGCAGTGGTGCGATCACGGCTCACTGCAAGCTCCGCCTCACAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGTTAATTTTTTGCATTTTTATTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTAAATCTCCTGACCCTGTGATCCACCCGCCTCGGCCTCCCTAAGTGCTTGGATTACAAGCGTGAGCCACCACGCCCGGCCCCCTTTTTATTTTTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGTCTCCACTCAGATACAAATGTGTGTGTTGTGTGCGTGTGTTCTGGTCTCATATTTGTTTGTTTTGAGACAGGGTGTCGCTCTGTCACTGAGTCTGGAGTGCAGTGGCGCAATCAGAGTTCACTGCAGCCTCAAACTCTTGGGCTCAGTTGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTGAACACCACTGTGCCCAGCTAATTTATTTTATTTTTAGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTTGACCTCCTAGCCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACACGTGCGAGCCATTGCGCATGGCTTGTGTTCTTGTGTTTCTTCCTTTTTCTTTCGAGATGGCGTCTCAGTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGTAGCCTCAACTTCCTGGGCTCAAGCAATCCTCTTGATTTCAGCCTCCCGGGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACCAGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGAAGGTGGAGGTTGCAGCAAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCCAAACAAGCCACATTTGGAGTTTGGGGTTCCCAGCAGGACTATTTCCCAAGCCTGAGCCTGGCTGTTTCTTCCAGAATTCGTTGCACGCATTGGCTGGGATCCTCCCCCGCCCTCCAGCCTCACAGCTATTCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTAGGTGGCGGATAGACACAGACTATAGATCACTCAAGCCAAGATGAACGCAGAAAACTGGTTGTGACTAGGAGGAGGTCTTAGACCTGAGTTATTTCTATTTTCTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTCGTTTCCCAGGCTGGAGGGCAATGGCATGATCTCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGGCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACTTGAGCCACCGCGCCCAGCTATTTCTGTTTTCTTTCTTTCTTCTTCTTCTTTTTTTTTTTCTAAGAGACAGGATCTCACTCTGTCCCCAGGCAGGAGTGCAGTGCTGTGATCATAGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCACACCACCATGCCCAGCTCATTTTTGTATTTTTTTTTTTTTTGAGACAGTCTCGTTCTGTCACCCCGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGATTACAGGCATGTGTGCCATCATACCTGGCTGATTTTTGTATTTTTTTTTAGAGATGGGGTCTCAGTATGTTGACCAGGCTTGTCTTAAACTCCCGGCCTCAAGTGATCCTCCCACTTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGGCCGGTTTGTTTTCTTTTTTTTTTCGTTTTTTGGAGACGGAATTTCACCTTTGTTGCCCAGGATGGAGTGCAATGGCACGATATCGCCTCACCACAACCTCTGCCTCCTGGGTTCAAACCATTTTCCTGCCTCAGCCTTCTTAGTAGCTGGGATTACAAGCATGTGCCACCACGCCCGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACCGAGTTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAGTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCTGGGTTCTCGAGACCGAGGCATGAGAATTGCCTGACCCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGGGACTCTGTCTCAAAAAACAACAAAAAAAAAGTTCTGGAAATGGATGGTGGTGATGGTGATACTTCCACAACAGCGTGAATCTGCTTAAGGCCACCGAACTGTGCACTCACAAATAGTCGAGATGGTACATTTTATGTTATGTGTATTTCACCACAATTAAAAACTAGTTGTGGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTCAGAGGGAGGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCTAAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGACGACAGAGTGAGACTTCGTCTCAAAAAAAAAACCAAAAAAAAAATTAGCTGTGGGTCAGGCACTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGTGGATGGCCTGAGGTCAGGAGTTCGAATCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAATTAGTCAGGTATGTTGGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAAGAGAATCGTTTGAACCCAGGAGGTGGACGTTGCAGTGAGCCGAGATTGGGCCACTGTACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTGAAACAAACAAACAAACAAACAAACAGACAAACAAAAAAACTAGTTGTGGAGAGAGGGTGGCCTGTGTCTCATCCCAGTGTTTAACGGGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGC	G	C11113288G	LDLR	NM_000527.5(LDLR):c.1197_2205del:p.Ala399_Tyr400insTer	coding	Pathogenic
19	11113334	GAC	G	A11113335C	LDLR	NM_000527.5(LDLR):c.1244_1245del:p.Asp415fs	coding	Pathogenic
19	11113345	G	GT	A11113347T	LDLR	NM_000527.5(LDLR):c.1255dup:p.Tyr419fs	coding	Pathogenic
19	11113428	TG	T	G11113429T	LDLR	NM_000527.5(LDLR):c.1338del:p.Ser447fs	coding	Pathogenic
19	11113586	CA	C	A11113587G	LDLR	NM_000527.5(LDLR):c.1411del:p.Arg471fs	coding	Pathogenic
19	11113678	C	CGG	A11113681G	LDLR	NM_000527.5(LDLR):c.1503_1504dup:p.Asp502fs	coding	Pathogenic
19	11113691	C	CG	T11113693G	LDLR	NM_000527.5(LDLR):c.1516dup:p.Val506fs	coding	Pathogenic
19	11113706	G	GTT	A11113709T	LDLR	NM_000527.5(LDLR):c.1531_1532dup:p.Leu511fs	coding	Pathogenic
19	11116117	GAACTCCCGCC	G	C11116120G	LDLR	NM_000527.5(LDLR):c.1613_1622del:p.Thr538fs	coding	Pathogenic
19	11116167	TC	T	C11116168G	LDLR	NM_000527.5(LDLR):c.1661del:p.Ser554fs	coding	Pathogenic
19	11116856	TAGATCTCCTC	T	A11116859T	LDLR	NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG	noncoding	Pathogenic
19	11116957	G	GA	G11116962A	LDLR	NM_000527.5(LDLR):c.1808dup:p.Arg604fs	coding	Pathogenic/Likely_pathogenic
19	11116960	AAG	A	A11116963G	LDLR	NM_000527.5(LDLR):c.1810_1811del:p.Arg604fs	coding	Pathogenic
19	11116973	AC	A	C11116977T	LDLR	NM_000527.5(LDLR):c.1824del:p.Phe609fs	coding	Pathogenic
19	11120135	GTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAA	G	G11120137C	LDLR	NM_000527.5(LDLR):c.1891_2311+1062del	coding	Pathogenic/Likely_pathogenic
19	11120136	TGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTTCACCCAGAGACGGGTCCCTTCAGTGGCCACGAACATTTTGGTCACGAGATGGAGTCCAGGTGTCGTCCTCACTCCCTTGCTGACCTTCTCTCACTTGGGCCGTGTGTCTCTGGGCCCTCAGTTTCCCTATCTGTAAAGTGGGTCTAATAACAGTTCTTGCCCTCTTTGCAAGGATTAAATGGGCCAAATCATATGAGGGGCCAGGTCCTTCAGGCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTC	T	G11120137A	LDLR	NM_000527.5(LDLR):c.1891_2311+1065del	coding	Pathogenic
19	11120189	CC	G	C11120189G	LDLR	NM_000527.5(LDLR):c.1943_1944delinsG:p.Ser648fs	coding	Pathogenic
19	11120200	A	AT	G11120202T	LDLR	NM_000527.5(LDLR):c.1955dup:p.Met652fs	coding	Pathogenic
19	11120318	TGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG	T	G11120320A	LDLR	NM_000527.5(LDLR):c.1988-50_2007del	noncoding	Pathogenic
19	11120403	A	AT	G11120405T	LDLR	NM_000527.5(LDLR):c.2022dup:p.Gly675fs	coding	Pathogenic
19	11120477	C	CCGGA	C11120485A	LDLR	NM_000527.5(LDLR):c.2099_2102dup:p.Met702fs	coding	Pathogenic
19	11120509	G	GAGCT	G11120514A	LDLR	NM_000527.5(LDLR):c.2128_2131dup:p.Cys711Ter	coding	Pathogenic
19	11123221	A	AAGGTC	C11123229G	LDLR	NM_000527.5(LDLR):c.2191_2195dup:p.Ser732fs	coding	Pathogenic
19	11123224	G	GTCAGC	C11123232A	LDLR	NM_000527.5(LDLR):c.2194_2198dup:p.Thr734fs	coding	Pathogenic
19	11123225	T	TC	A11123227C	LDLR	NM_000527.5(LDLR):c.2193dup:p.Ser732fs	coding	Pathogenic
19	11123264	GACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGA	G	A11123265T	LDLR	NM_000527.5(LDLR):c.2232_2290del:p.Pro745fs	coding	Pathogenic
19	11123307	G	GCTCACCACGGTGGAGATAGTGACAATGT	A11123343C	LDLR	NM_000527.5(LDLR):c.2282_2309dup:p.Gln770fs	coding	Pathogenic
19	11123589	GCTCCTGGTTCCCAAAGTCAGCCACGCACCGTGTGGGTCCCAAAATTTTATCAAGGCACATTCGTTGCCTCAGCTTCAGGCATCTGCCCAAAAAGGCCAGGACTAAGGCAAGGAGAGGGAGGGATTCCTCAGTACTCAGCTTTTCACAGAGGCTCCAAAAGGCTAAGGAATCCAGTAACGTTTTAACACAATTTTACAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGGCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTACAGAAGGGGCTTCTCTGTTGGTCAGGCTGGTCGTGAACTCTCAACCTCAGGTGAGCCACCCGCCTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTTTTTTTTGAGACAGAGTCTCGCTCTCGCCCATGCTGTACTGCAGTGACGCAGTCTGGGCTCACTGTAACCTCCGCTTCCCAGGTTCAAGTGATTCTTCTGCCGCAGCCTCCCATGTAGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTCTTGCATTTTTAGTAGAGATGGGGTTTCACAGTGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTCATCTGCCTGCCTTGGCCCTGCCAAAGTGCTGGGATTATAGATGTGAGCCACCGCGCCTGGCCTACAGTTTATTCTTTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGAGAATGGCTTGAGCCCAGGAGTTCAAGTCCAGCCTGGGCAACATAGCAAGACCCTATCTCTACTACAAAATAAATAATAAATAAACTAATTTTTTTTCTTTTAAAACCCAACTATTCAACATGGCAATGCAATATATTAAAAAAATTTTTTTTTTCTTTGAAACGGAGTCTCTCACTGTCACCCGGGCTGGAGTGCAGTGTCGCCATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACCCAGCTAATATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGCAGGCTGGTCTGGAACTCCTGACCTCGTGATCTGCCCGAGGATCGGCGGCCTCCCAAAGTGCTGGGGATTGCAGGCATGAGCCACCGTGCCCAGCCAAAACTTTTTTATTTTTATTTTTTTGGGACACGGTCTCACTGTGTACCCCAGACTGGAGTGATAGAGTGCTGTCATGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAGGTGATCTTCCTGCTTCAGTCTCCCAGGTAGCTGGGACTACAGGCATGAGCCACCACACCCAGCTAATTTTTGAATTTTTTTGTAGAGACAGGGTTTCACCTTGTGGCCCAGACTTGTCTCTAACTCCAGGGCTCAAGCGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTAATGCAATTTAAAAAATTTTTTGGCCAGGCCTGGTGGCTCATGCCTGTATTCACAACACCTTGGGAGGCAAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCCTGTCTACTAAAAAAATACAAAAATTACCTGGGCACAGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGATGCTGAGGGTGGAGAATTGCTTGAACCTGGGAGGCAGAAGTTGCAGTAAGCCAAGATCATGCCACTGGACTCCAGCCTCAGTGACAGAGCAAAACTCTGTCTCCAAAAAAATTGTTTTTTTTTTTTTTTTTTCAAATCATCACACTACAGCCAAGGCCTGGCCACTTACTTTTGTAAATAAAGTTTTATTGGAGCCAGTGGACCAGTGAGGCCGAATCTTGCAGGTGTAAGATCACAGTCTATCCTTGAAAATTTTGATATTTTGTTCATTGGGTGGTTTTTCATTAATTTAAATTTTAAAAAATAACATATTAAAGGCTGGTGTGGAGGTGCACGCCTGCAGTCCTAGCTACTCCCAGAGGCTGAGGCGGGAGACTTGCTTGAGCCCAAGAGTTGAAGTCCAGCCTGGGCAACATAGCGAGACCCCCATCTCTAAAAATAAAAATAATGCATTAGAATATTATTGGATTCCTGGGCAGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCACGAGAATCGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGAGGACAAGAGTGAAACTCCATTCCCCTCTGCAAAGAAAAGGAATATTATCAGATTCCTAAGCTTTTTGGCTCCCCCTTTAGTTTGGGGGCTGGGGTGGTGAGTGTCTGACCTGGCCTCACTGTCCTCCCTGGATGTGATGAGACCCAGGTGTGGGTCAGGATGTCATTCGTTTGTCCACCAGAGGGCGCCCAAACTGCTTTGAGCTGCTGGGAAATGGTGCTCCTAGACTTTTAGCAAACAAACAAAAAAAAATGGCACATCGGCAAATTTCAGACCATTCTTTTTTTTTTTTTTTTTGGTTCCAGAGTAGCTGAAATCTTTGTTCAGTTACAAGCAGGATAAAATGGAAACTGCCTGGGAGAGGCTGAGAAACCTTCTTGCTTGGGGGAGGTGGGGCACTGCTAGAATTAATCGCTTCACAGACCAGCCCATCCAGGACTCCTCAAATTTGGCAAAAAAGCCATTCATTCATTCATTCATTTATGTAGAGACGAGGGGGATCTGGCTATATTGCCTAGATTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCCTGCCTTGGTCTACTAATGTGCTGCGATTACAGGCATGAGCCACCGTGCCTAGCTCTAGTGGACTTGAAATGTTGCCTTGCCCAGGGCCCTTATGTTGAATGGCCCAGGTCCACTTGTATGGTTCTGTACCAAGGTTAACCCCATCCCATAATGCCTGGGACAGTTGATGCAGGACAATCAGCTTCTGTGCCATTCAACCTCAGGACTGAGCATGCTGGGCATTGTGGGGTCCGAAGGTGGCTCCCCTGTCCCCTTCAAAATACCCTCTTTTTCTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTTGCCCCAGCTAGAGTGCAGTGGTGCGATCTCAGCTCCCCGCAACCTCTGCTTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCGCCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGGGCCTGGCCTTTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGACTCACTGCAACTCCATTTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCACGGCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGATCATGCTGGTCTCAAACTCCTGACCTTAGGTGATCTGCCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGGGAAGTTCTCCAAGTGTCCAGGGAGATGTGCCAGGCGCTTTCCTGCCGTGACCACCGTCCTCTGCCTGCTCCATTTCTTGGTGGCCTTCCTTTAGACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAATGAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCGTCCCCCAGGTCACAGCCTCCCGCTATGTGACCTCGTGCCTGGCTGGTTGGGCCTGTTCACTTTTTCTCCTGGACAGGGAACAGCCCCACTGGTGTCCTTTATCACCCCCACGGCCTCTCCTGGCTTGGGGCTGACAGTGACAAGATCAGACAGCTAAGGGGTCAGATGGAGGATGTGGAGCTGGGTCCCGTGCTGTGGAATAGCCTCACCGAGATTTGAGTGCCTTCTGGGGAACTGGTTCCCTTGCAGGGGGCTGTGTGGAGAGGCGCGCTCTCCCTGCCTCACCCATGCTCATCCTAACTCGGTTACCATCACATCTCTTTTTTCTTTTTTTCTTAAATTTTAAGAAAAAAGAAATTTAATTTTTTTGAGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCATGCCTCGCTGCAGCCTCAATGTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTGCAAGCCACTATACCCCACTTCCTATTTCTTAAAAAGTCACAGCCCTGTGTGTGGCTAATCCTGGACAGAAATCTAGAAGAAGTCAGCTACTTCTGGGGCGTGGCTCACCCAGTGGGCTTCAGGTTAGATATTTCTTATACTTATGAGGCTGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGTGGATTGCTTGGGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCGAAACCCTGTTTCTAGAAAAGGTACAAAAATTAGCTGGGCAGGTGGCACGTGCCTGTGGTACCAGCTACTTGAGGGCCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTCGAGGTTGCAGTGAACTGAGATCATGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAAAAAGAAAGAAAAAAATTCTTATGCATAGATTTGCCTCTTTTCTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCTCAACCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGACTGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGGCCGCAAGGCGATCTCTAAACAAACATAAAAGACCAGGAGTCAAGGTTATGGTACGATGCCCGTGTTTTCACTCCAGCCACGGAGCTGGGTCTCTGGTCTCGGGGGCAGCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGGCGGCCCCCTCCCAGCTGGAGGCATATGATCCTCAAGGGACCAGGCCGAGGCTTCCCCAGCCCTCCAGATCGAGGACAGCATTAGGTGAATGCTTCTGTGCGCTCATTCAGAATGTCAGCGGACAATGGCCTTGGTGGTGTAGAGGAATGTTGGATAAGCAAATAGAGAGCTCCATCAGATGGTGACAGGGCAAAGAAAGTCAAAAGGAGTTCAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCTGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCTTGGCCATCATGACAAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGGAGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGAAAAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCCGGGAGGCAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGAGTTCAGAGGCCCGGCATGGTGGTTCACACATGTGATCCCAGAACTTGGGGAGGTTGAGGCAGGAGAATCACCTGAGCTCAGAGTTCAAGACCAGCCTGGGCAGCACAGCAAGACCCCATCTCTGCAAAAAATAAAAATTTAGCCCAGTGTGGTGATGAGCGCCTAGTTCCAGCTACTAGGGAGGCTAAGGCAGGAGGATTGCTTGAGGCTAAGGTAGGAGATTGAGACTGCAGTGACTTGTGATTGCGTCACTGCGCTCCAGCCTGGGTGACAGAGCAAGCCCTTGTCTCTTAAAAAAAAAAAAAAATTCAAAGAAGGGTTTCCAGAGGGCCAGGAGGGAGGAAGGGAGAGGAGGTGTTTTATTTTTTTGCTTTTATTTTTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGCTGTGATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTTATGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAACACTATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCCACGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGCCTTGATCTTTACACAAGGGGTTTAGGGTAGGTAGCCTTCTCTGAACCAGGAGAACAGCCTGTGCGAAGGCCCTGAGGCTGGACCGTGCCTGTTGGGTTTGAGGCCGTTGTAGCTGGAGCAAACAGAGAGAGGGGTAAAAAGGCAGGAGGCTACCAGGCAGGTTGTGCAGAGCCTTGTGGGCCACTGGGGAGGACTTTGGCTTTTGCCCTGAGAGCGGTGGGAAGTGACTGAATCCGGTACTCACCGTCTCCCTCTGGCGGCTCCTGGGGGAACATGCTTGGGGATCAGGCTGGGGGAGGCTGCCAGGCCCAGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGAATGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCAGAGACAGATGGTCAGTCTGGAGGATGACGTGGCGTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTTCCTGAGACCTCGCCGGCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTGCCAGAGCTTTGTTTTATATATTTATTCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCAATGGCTTGGGTTGGGATTTTGGTTTCTTCCTTTCCTCGTGAAGGATAAGAGAAACAGGCCCGGGGGGACCAGGATGACACCTCCATTTCTCTCCAGGAAGTTTTGAGTTTCTCTCCACCGTGACACAATCCTCAAACATGGAAGATGAAAGGGGAGGGGATGTCAGGCCCAGAGAAGCAAGTGGCTTTCAACACACAACAGCAGATGGCACCAACGGGACCCCCTGGCCCTGCCTCATCCACCAATCTCTAAGCCAAACCCCTAAACTCAGGAGTCAACGTGTTTACCTCTTCTATGCAAGCCTTGCTAGACAGCCAGGTTAGCCTTTGCCCTGTCACCCCCGAATCATGACCCACCCAGTGTCTTTCGAGGTGGGTTTGTACCTTCCTTAAGCCAGGAAAGGGATTCATGGCGTCGGAAATGATCTGGCTGAATCCGTGGTGGCACCGAGACCAAACTCATTCACCAAATGATGCCACTTCCCAGAGGCAGAGCCTGAGTCACTGGTCACCCTTAATATTTATTAAGTGCCTGAGACACCCGGTTACCTTGGCCGTGAGGACACGTGGCCTGCACCCAGGTGTGGCTGTCAGGACACCAGCCTGGTGCCCATCCTCCCGACCCCTACCCACTTCCATTCCCGTGGT	G	G11123595T	LDLR	NM_000527.5(LDLR):c.2311+251_*813del	noncoding	Pathogenic
19	11128035	AT	A	T11128036G	LDLR	NM_000527.5(LDLR):c.2340del:p.Asn780fs	coding	Pathogenic
19	11129534	T	TG	T11129540G	LDLR	NM_000527.5(LDLR):c.2416dup:p.Val806fs	coding	Pathogenic
19	11129568	T	TAAGAACATCAACAGCATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAA	C11129586T	LDLR	NM_000527.5(LDLR):c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT:p.Ile821_Asn822insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer	coding	Pathogenic
19	11129571	GAACAT	G	A11129572C	LDLR	NM_000527.5(LDLR):c.2449_2453del:p.Asn817fs	coding	Pathogenic
19	11129576	T	TCAACAGCATCAACTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGC	G11129593T	LDLR	NM_000527.5(LDLR):c.2469_2470insTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCAACAGCATCAACTTT:p.Asp824delinsPhePhePhePhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer	coding	Pathogenic
19	11129624	A	AT	G11129626T	LDLR	NM_000527.5(LDLR):c.2502dup:p.Glu835Ter	coding	Pathogenic
19	11129651	ACGGCTACAGCTAC	A	G11129653C	LDLR	NM_000527.5(LDLR):c.2530_2542del:p.Gly844fs	coding	Pathogenic
19	11166719	G	GTGGCCCC	A11166734T	KANK2	NM_001136191.3(KANK2):c.2503-122GGGGCCA[3]	noncoding	Benign
19	11178300	A	AG	C11178305G	KANK2	NM_001136191.3(KANK2):c.1520+41dup	noncoding	Benign
19	11192783	GCC	G	C11192794A	KANK2	NM_001136191.3(KANK2):c.1249+46_1249+47del	noncoding	Benign
19	11192783	GC	G	C11192795A	KANK2	NM_001136191.3(KANK2):c.1249+47del	noncoding	Benign
19	11194758	T	TC	G11194766C	KANK2	NM_001136191.3(KANK2):c.-79-175dup	noncoding	Benign
19	11200703	GT	G	T11200707G	DOCK6	NM_020812.4(DOCK6):c.5939+12del	noncoding	Benign
19	11200950	GTAGCATCT	G	T11200959G	DOCK6	NM_020812.4(DOCK6):c.5783_5790del:p.Lys1928fs	coding	Pathogenic
19	11201960	T	TA	C11201962A	DOCK6	NM_020812.4(DOCK6):c.5616dup:p.Lys1873Ter	coding	Pathogenic
19	11204131	CTGGGGATGAGGAG	C	A11204150C	DOCK6	NM_020812.4(DOCK6):c.5221-49_5221-37del	noncoding	Benign
19	11211558	CCCTGTCCCCCTCACCTGTCTGCTCAGCTGTCTGCTCA	C	C11211610T	DOCK6	NM_020812.4(DOCK6):c.4751+181_4751+217del	noncoding	Benign
19	11215472	C	CT	G11215474T	DOCK6	NM_020812.4(DOCK6):c.4022-2dup	coding	Benign
19	11217055	CCGGCTTGA	C	G11217057T	DOCK6	NM_020812.4(DOCK6):c.3745_3752del:p.Ser1249fs	coding	Pathogenic
19	11222783	CAG	C	A11222784G	DOCK6	NM_020812.4(DOCK6):c.3190_3191del:p.Leu1064fs	coding	Pathogenic
19	11227493	G	GAGGGCTGTGGGTGGGATTTGA	A11227527G	DOCK6	NM_020812.4(DOCK6):c.2815-37_2815-17dup	noncoding	Benign
19	11235877	AT	A	T11235898G	DOCK6	NM_020812.4(DOCK6):c.2393-119del	noncoding	Benign
19	11236350	CT	C	T11236351G	DOCK6	NM_020812.4(DOCK6):c.2387del:p.Gln796fs	coding	Pathogenic
19	11243343	TG	T	G11243347C	DOCK6	NM_020812.4(DOCK6):c.1300del:p.Gln434fs	coding	Pathogenic
19	11251194	AG	A	G11251199T	DOCK6	NM_020812.4(DOCK6):c.508-109del	noncoding	Benign
19	11422355	AG	A	G11422357A	ODAD3	NM_145045.5(ODAD3):c.1434+115del	noncoding	Benign
19	11422808	C	CGTCT	C11422813G	ODAD3	NM_145045.5(ODAD3):c.1166_1169dup:p.Leu391fs	coding	Pathogenic
19	11423621	G	GA	C11423624A	ODAD3	NM_145045.5(ODAD3):c.1116+254dup	noncoding	Benign
19	11423835	TG	T	G11423845C	ODAD3	NM_145045.5(ODAD3):c.1116+41del	noncoding	Benign
19	11426892	CTG	C	G11426894T	ODAD3	NM_145045.5(ODAD3):c.591_592del:p.Asn197fs	coding	Pathogenic
19	11434534	CA	C	A11434551T	ODAD3	NM_145045.5(ODAD3):c.244+238del	noncoding	Benign
19	11434534	C	CAA	T11434552A	ODAD3	NM_145045.5(ODAD3):c.244+222_244+223dup	noncoding	Benign
19	11434534	C	CA	T11434552A	ODAD3	NM_145045.5(ODAD3):c.244+222dup	noncoding	Benign
19	11434941	TG	T	G11434943A	ODAD3	NM_145045.5(ODAD3):c.75del:p.Arg26fs	coding	Pathogenic
19	11441241	G	GA	G11441243A	PRKCSH	NM_001289104.2(PRKCSH):c.353dup:p.Lys119fs	coding	Pathogenic
19	11441255	GGA	G	A11441263T	PRKCSH	NM_001289104.2(PRKCSH):c.374_375del:p.Glu125fs	coding	Pathogenic
19	11441319	CTT	AATAAGG	C11441319A	PRKCSH	NM_001289104.2(PRKCSH):c.430_432delinsAATAAGG:p.Leu144fs	coding	Pathogenic
19	11446420	A	AG	A11446426G	PRKCSH	NM_001289104.2(PRKCSH):c.762+75dup	noncoding	Benign
19	11446838	TTC	T	C11446844T	PRKCSH	NM_001289104.2(PRKCSH):c.763-235TC[2]	noncoding	Benign
19	11447525	A	AGAG	A11447558G	PRKCSH	NM_001289104.2(PRKCSH):c.939GGA[11]:p.Glu325dup	coding	Benign
19	11447670	CACTG	C	T11447673C	PRKCSH	NM_001289104.2(PRKCSH):c.1030-20_1030-17del	noncoding	Benign
19	11448284	T	TC	A11448287C	PRKCSH	NM_001289104.2(PRKCSH):c.1191dup:p.Ile398fs	coding	Pathogenic
19	11575188	GA	G	A11575189G	ACP5	NM_001611.5(ACP5):c.799del:p.Ser267fs	coding	Pathogenic
19	11576451	CG	C	G11576455C	ACP5	NM_001611.5(ACP5):c.526del:p.Arg176fs	coding	Pathogenic
19	11576729	T	TTA	C11576730T	ACP5	NM_001611.5(ACP5):c.375_376insTA:p.Ile126Ter	coding	Pathogenic
19	11576743	AT	A	T11576744C	ACP5	NM_001611.5(ACP5):c.361del:p.Ile121fs	coding	Pathogenic
19	11576832	CTCAAAGG	C	A11576835T	ACP5	NM_001611.5(ACP5):c.266_272del:p.Thr89fs	coding	Pathogenic
19	11577058	TG	T	G11577060A	ACP5	NM_001611.5(ACP5):c.259del:p.Gln87fs	coding	Pathogenic
19	11577060	GA	G	A11577062C	ACP5	NM_001611.5(ACP5):c.257del:p.Phe86fs	coding	Pathogenic
19	11577181	CG	C	G11577184C	ACP5	NM_001611.5(ACP5):c.136del:p.Arg46fs	coding	Pathogenic
19	12647235	G	GT	G12647237T	MAN2B1	NM_000528.4(MAN2B1):c.2920dup:p.Thr974fs	coding	Pathogenic
19	12647511	CCAAG	C	A12647513G	MAN2B1	NM_000528.4(MAN2B1):c.2748_2751del:p.Leu917fs	coding	Pathogenic
19	12648191	GC	G	C12648195G	MAN2B1	NM_000528.4(MAN2B1):c.2647del:p.Ala883fs	coding	Pathogenic
19	12648280	GGCTGCAGCCTGGGCTGTGTCCAGCA	G	T12648283A	MAN2B1	NM_000528.4(MAN2B1):c.2534_2558del:p.Leu845fs	coding	Pathogenic
19	12648326	A	ACCCGCGCC	A12648330G	MAN2B1	NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG:p.Val838fs	coding	Pathogenic
19	12648360	CCGATACTCCG	C	A12648363T	MAN2B1	NM_000528.4(MAN2B1):c.2469_2478del:p.Gly824fs	coding	Pathogenic
19	12649154	ATCTC	A	T12649157A	MAN2B1	NM_000528.4(MAN2B1):c.2414_2417del:p.Arg805fs	coding	Pathogenic
19	12655722	CA	C	A12655723G	MAN2B1	NM_000528.4(MAN2B1):c.1801del:p.Trp601fs	coding	Pathogenic
19	12656356	C	CA	G12656373A	MAN2B1	NM_000528.4(MAN2B1):c.1644+199dup	noncoding	Benign
19	12656697	CG	C	G12656702T	MAN2B1	NM_000528.4(MAN2B1):c.1528-11del	noncoding	Benign
19	12657006	GAA	G	A12657007G	MAN2B1	NM_000528.4(MAN2B1):c.1468_1469del:p.Phe490fs	coding	Pathogenic
19	12657498	T	TGCTGGCGGGAGGTGCC	A12657519G	MAN2B1	NM_000528.4(MAN2B1):c.1351_1366dup:p.His456fs	coding	Pathogenic
19	12658075	TGTCTCCGGAGCCATAGG	T	T12658079C	MAN2B1	NM_000528.4(MAN2B1):c.1280_1296del:p.Pro427fs	coding	Pathogenic/Likely_pathogenic
19	12658256	G	GT	G12658260T	MAN2B1	NM_000528.4(MAN2B1):c.1197dup:p.Arg400fs	coding	Pathogenic
19	12658455	CA	C	A12658456G	MAN2B1	NM_000528.4(MAN2B1):c.1081del:p.Trp361fs	coding	Pathogenic
19	12658488	T	TG	A12658491G	MAN2B1	NM_000528.4(MAN2B1):c.1048dup:p.His350fs	coding	Pathogenic
19	12658515	TG	T	G12658520A	MAN2B1	NM_000528.4(MAN2B1):c.1027-6del	noncoding	Benign
19	12661305	CAT	C	A12661306G	MAN2B1	NM_000528.4(MAN2B1):c.979_980del:p.Met327fs	coding	Pathogenic
19	12661319	CAT	C	A12661322T	MAN2B1	NM_000528.4(MAN2B1):c.965_966del:p.Gln321_Tyr322insTer	coding	Pathogenic
19	12664790	A	ACCTGC	G12664796C	MAN2B1	NM_000528.4(MAN2B1):c.627_630+1dup	noncoding	Pathogenic
19	12664797	C	CA	C12664801A	MAN2B1	NM_000528.4(MAN2B1):c.624dup:p.Ala209fs	coding	Pathogenic
19	12664860	GC	G	C12664863A	MAN2B1	NM_000528.4(MAN2B1):c.561del:p.Arg188fs	coding	Pathogenic
19	12664934	G	GTGGC	C12664941G	MAN2B1	NM_000528.4(MAN2B1):c.484_487dup:p.Thr163fs	coding	Pathogenic
19	12664983	G	GC	T12664987C	MAN2B1	NM_000528.4(MAN2B1):c.437-1dup	coding	Pathogenic
19	12665464	CA	TT	C12665464T	MAN2B1	NM_000528.4(MAN2B1):c.323_324delinsAA:p.Leu108Ter	coding	Pathogenic
19	12665494	C	CT	G12665496T	MAN2B1	NM_000528.4(MAN2B1):c.293dup:p.Tyr99fs	coding	Pathogenic
19	12665708	T	TA	G12665713A	MAN2B1	NM_000528.4(MAN2B1):c.256dup:p.Tyr86fs	coding	Pathogenic
19	12665726	GTT	G	T12665729G	MAN2B1	NM_000528.4(MAN2B1):c.237_238del:p.Lys79fs	coding	Pathogenic
19	12665748	CAT	C	A12665749G	MAN2B1	NM_000528.4(MAN2B1):c.215_216del:p.His72fs	coding	Pathogenic
19	12665749	ATGTG	A	T12665754A	MAN2B1	NM_000528.4(MAN2B1):c.212_215del:p.Thr71fs	coding	Pathogenic
19	12665789	TGCACTGTGGG	T	C12665793T	MAN2B1	NM_000528.4(MAN2B1):c.166_175del:p.Pro56fs	coding	Pathogenic
19	12665802	ATG	A	G12665804C	MAN2B1	NM_000528.4(MAN2B1):c.161_162del:p.Thr54fs	coding	Pathogenic
19	12666595	CAG	C	A12666600G	MAN2B1	NM_000528.4(MAN2B1):c.105_106del:p.Cys36fs	coding	Pathogenic
19	12666632	T	TGGTCCAGGGGCCTGCTG	A12666650G	MAN2B1	NM_000528.4(MAN2B1):c.53_69dup:p.Met24fs	coding	Pathogenic
19	12666648	T	TA	G12666649A	MAN2B1	NM_000528.4(MAN2B1):c.53_54insT:p.Ala19fs	coding	Pathogenic/Likely_pathogenic
19	12666692	AG	A	G12666694C	MAN2B1	NM_000528.4(MAN2B1):c.9del:p.Tyr4fs	coding	Pathogenic
19	12881270	G	GC	G12881277C	DNASE2	NM_001375.3(DNASE2):c.86+19dup	noncoding	Benign
19	12891311	C	CT	G12891313T	GCDH	NM_000159.4(GCDH):c.8dup:p.Arg4fs	coding	Pathogenic
19	12891900	TC	T	C12891901A	GCDH	NM_000159.4(GCDH):c.198del:p.Ile67fs	coding	Pathogenic/Likely_pathogenic
19	12896025	CAG	C	A12896028C	GCDH	NM_000159.4(GCDH):c.542_543del:p.Glu181fs	coding	Pathogenic
19	12896228	ATC	A	C12896230G	GCDH	NM_000159.4(GCDH):c.661_662del:p.Leu221fs	coding	Pathogenic
19	12896300	GTC	G	T12896305G	GCDH	NM_000159.4(GCDH):c.736_737del:p.Ser246fs	coding	Pathogenic
19	12897409	C	CGATT	C12897411A	GCDH	NM_000159.4(GCDH):c.1064_1065insATTG:p.Lys357fs	coding	Pathogenic
19	12897734	AG	A	G12897736A	GCDH	NM_000159.4(GCDH):c.1116del:p.Asn373fs	coding	Pathogenic
19	12925074	G	GT	A12925076T	FARSA	NM_004461.3(FARSA):c.926+15dup	noncoding	Benign
19	12943813	A	ATTGTC	G12943814T	CALR	NM_004343.4(CALR):c.1154_1155insTTGTC:p.Lys385fs	coding	Pathogenic
19	12996142	C	CGT	C12996172T	NFIX	NM_001365902.3(NFIX):c.27+279GT[15]	noncoding	Benign
19	12996142	CGT	C	T12996170C	NFIX	NM_001365902.3(NFIX):c.27+279GT[13]	noncoding	Benign
19	12996142	CGTGT	C	T12996168C	NFIX	NM_001365902.3(NFIX):c.27+279GT[12]	noncoding	Benign
19	13073971	AAC	A	C13073973T	NFIX	NM_001365902.3(NFIX):c.765_766del:p.Ile256fs	coding	Pathogenic
19	13075027	GCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAAGGAACTAAAATATTCTTTATATTGATGACTGAGTTTTATGGCATTTTTGTCCCCCTGACATTTTTGTCCCTCTGACATTTTTGTCCCTGTGAGTACGTCATTCACCTCACCCTAGCCCTGGGGGCTGCCAGGAAATCATAGGTGGGATACAGGAGGCAGCTGAGGGTTTTGCCGACTTCTCTGATGTGGGCAGCTTGGAGGACCGTGGCATCACAGATTGGGAAGGGGCTTGAGGAAGAGGAGCAGGTTGAAGCTGATGGCTTGAGGGGCCCTAGGGCTGATCTTGGGGTTGGGCACGCAGTGAGTGCCCAGAAATGCTGCTGTCGGCCGGCACCACTCCCCACCCAGAGGGCCATCTATGCACAGTTCTTTAGCCTGGACTCTTGGTCACTCCCTGGAGCCTCAGCCCATCCTTGGCCCATGTGACCCTTTCTTTCTTCCCCAGCACCACCAAGCGCCCCAAGTCCATCGATGACAGTGAGATGGAGAGCCCTGTTGATGACGTGTTCTATCCCGGGACAGGCCGTTCCCCAGCAGCTGGCAGCAGCCAGTCCAGCGGGTGGCCCAACGATGTGGATGCAGGTATGGGTGCGGGGGATCCTGACCCAGAGCAAGGGCAGCCCAGAGTCTTTTTGTCCCCTTCTCAGTTCACCTGGTGAGCCTCCCACCAGTTGTCCCCCTGTCGGGGGGCATTACCCATCTGTTTTCTTGCCTCCTGATCTTCCAGGGAGGGCAGAGCAGGCTGAAGGAAGGGAGTGGAGGTGAGGGTGAGGAGGGGTGCTGTGAGAGTCAGCAGCAGAGCCCGTGGTATGGCGGTGGGAAGCAGAGGGGGTGCCAAGCCTCTGGTGCCCCACAGTGGGATGGCCGCAGCCCCTCCTGGTATTTCTCTAGAGGTTGCCCCACCCCGTGGCCTCATGGTTGAAAGCAGTTTCTCACCCTGGGGGCTCATCATTCTGTGTAGGGGATTGTTCTGTGCATGGCAGGATGTTTAGCAGCATCCCTGGCCTCCACCTACAAGATGCCAGCAGCAAAACCCCCACCCCCAGTTTTGATGACCAAAAACGCCTCCAGACATTGTCAGACGTTCCCTAGTGGGATGGAATCCTCCCAGGATGAGAACCACTGGTCTCAAGGGCCCAGCTTCACAGAGAGAGGCTCAGAGTCTAGTGAAGAATGAGCAGAGTCCTTTTGAGACCAGGTAGGGAAGCTAGCGAAGGGGAGAGAGTACAGAGGAAGCCAGCTCAGACCTTCCCAGTCTCCTCTAGGGATCTTCTTCTTGTTGAACCCACCCCCCTTCACCTCCATTCTTGACTGAGGGTGCAGACAGACCTAGAGAGGACTCTGGAAGACAGCATGTAACACGTGCGTGTGTGTGTGTGCATGTGCATGAGCACATGTGTGTGAGGAGGCTGGCCGCAAGAGTCCCCCGCTGACGTGCCAGTGGTACAGCCCGTGTTTATCCTCACTGTGGGTGTGACAGGGCCTGGGAGTGCAGACTCACGCGTGTGGGTTGTGCACAGGGCATGGCTGCTCTGGACAGGCCTGGGCCCTGGGCATCATTCTCCTCCTCCAAAAGGTGAGGGTCTGACCTAATGGTACTTTGTCTGATGTTTTCCAGATATGCCCCTACTGGGAAGGGCCAAGTGGGCAGGCAGAGTCTGGGGTGGAGCGAGGTGGGGCTGGGAAGCACTCCTGCTTTTCTGCTGCCCCAGAACGAATGCAAGTTCTGGCAGCTTCTCCTCCTCCTGGGAGGAGGAAAGGAGGGCTCGCCTCCAGGCCTCAGGCTGAGGGAGTGGGCTGGAGACCCTCTAGATGGCCAGCAGAGGCTGGCCTCTGTGAGAAGGCTTCCTTGCGTGACTCTGGGGCCCCTCCCAGGCTCTCCTCGTGGCAGGCAGGGACTTGGGCCAGCATGGGCCACATGCTTCCCTAGGGGAGCCTTGAGAGGCAGAGAGAGGAGTTGAGAAGGCCCGGGAGACTCTTGGGCTACATCCTGGGTCCCTGGCCGGGGCCTCAGTAGGTGACCCCTTCTGCAAGGACTGCCCCTGGGGTGCATAGAGGACTGTGTCTGCAGCTGGCTCCTGGGGCAAGGGCTCCTGGGCTCCTGTGCCCAGACCTAATTCCTGAGGAGCCCCCCTCTTCCTGGCTCCTGCTCTCTCCTTTCTTGGCTGTCTGCTTTTGCGCCTGCCATTTCTGCATTTCTGCTCCTTCCGGCAGTCCTGCCACGCACGGCCCCTCAACATCCTCCTGCAGCACCCTCCGGCTCCCTTTTCCCCTCACCCCGCTGTGTGTTGTTTTCATGGGCTGCAACAAATTGCCAATTAAGCAGCCCAGCTGCAGGACAGGGAACAGCTGGGGAGGCACTGTGCGGCCATGGGGACAGCTGTGCACAGCTGGTAGGATGCTCCCCCCTCCCCACTGTGCCAGCTATCAGGTGGCACACAGCTGCTGCCAGATAACACCTCCGCTGGCGGCTGGGAGTTCGCCCTTCCCCCGCCCCTTCCCTCTGCAGTTAAGATGGCTCTTTATTTCTCTGTTCTGCAGCCCCTCCACCCCTCACCCAAACTGACTTGATTTGTCCTCCAAGGGTGGCAGCTGTGAGATCTGCCCCAACTCTACCTTATCCTTCCCAGCCTGGGCACAACCTTAAAGCTCAGCCCAAGATGGGAGCTGATCTTTCCAGAAGAACCTGGCCCCCTGGGGGCCCTGCTTTGTCATTTGGATGCTATGGCCACTGGGCAGAGATGAATTTCTAAAGACAGACTTCAAACAAGGTGTTCTCTGTGCCCTTGTTTCATGCTGAATGCCACCCACACCTCTGGCACCAGAAGCAGGGCAGAGCCCTGAAATTATCCATCCTATGGCAGCTGAGCTTCTGGGTCCCCTGGCTGGGGGAGTCTTCTCCCCTCTGGCTCTGCCTGCACAGCCCGGCTAGGCCTGAGCAGCCCAAGGACTCTCCAGGTCCTCTGGCCTCTGTCCCTGCTCTCTCGCTGGGCATTGTGTCCCTCCTGAGGGCTCATGGCTGTGTGCTCCCTTCCCTAAACGGGGCCCTGGCTTCTTCCCACCAGAACCTCCCATGGCCCCGGGCACCATGGCATAGACCCCAGCCTGTCCCTCCCAAACTTACCCCTTCCCGGCTCTCAAGCTGGCGCCCTGGGGTTCCTCCTGCACTCCTTTCCCAATGTTGGTCCTGCATCCCACCCTTTCACTTCATTACCTGCTTGCCAGGGCATAGGCTGGGGCCCTTGCTCACCCCCTGCCTGGCACACACCACCCCACATTACCCAGGGGCCTCGTTTTCCTCTCTGGTTAGAAGCACCCCTTGGCTGGCCTACACACAGGGCCTCGGAACCAGGCCTAGAACAAGGCCTGGGACTGGGCAAGGAGCAGCAGGAGGGAGCACAGTGGAGGAAGGGGCAGTGGGGAGGGGCTGAGGAGAGAAGGAGCGAGCTGCTGGCTTCCCGCCTTCCCCGCACCCACCCCAGCCCAGCTAAACCTGCCCTGTGTTGCTGCTTCCTCCCCCCAGGCCCGGCTTCTCTAAAGAAGTCAGGAAAGCTGGACTTCTGCAGTGCCCTCTCCTCTCAGGGCAGCTCCCCGCGCATGGCTTTCACCCACCACCCGCTGCCTGTGCTTGCTGGAGTCAGACCAGGTGAGAAATGGGGGGCCCCGGAGGGGGGCAGTTGGGGAGGTGGCTGAGTATCTAGGGGCAGCTGGCCAGGTGAAGGGGCCAGAGCTGACCCCGAGTGACAGCCCCACGCTCTCCAAGTGGGCCAAGGTGCAGCAGCGGGTGGGCATGGGAGCCGGCCCCTGCTTCACGTAGCACCTCATCGAGGACCAGGCCGGGCCCCTGGGCTGCCCACCTGGCTCCTGAGCAACCTCCCACTTCTCACTCCTCACGTGCATGGGTGCTACATACAACACAAGCCTGTCCCGAGTCCTCCCCAACTCTGGCCCAGTTCTCCTTTTGTCCTGCCAGCTGTGAGCGGGAAGGCACAGCCTTCTGCTCTGCCTTCCTGCCGGCTCCTCTCTCCCAGCTCCTGGCTGAGCCCAGGCTCTGGATTTTTGCCAGCATGAGCCCAGGTTGATGTGGGGCCTGGATGGAGAAGAGTACTCCTAAGGAGCCCAGGCTCCTGCGGCAAGTAGCTACCTTGTCTGGGCCTCCCTGCCGCTTTCTAGAAAGGAAGGGCTGGGTCTAGGGGACAGGTGGTACCTGGGCTGCTCCCCAGGAAAAGGAACTGCCCACTGCCGTGGGGCTGCTCTCTGACTTCAGTGTCCCAGTTGAGAAGGTGCTCAGGATGAGAACACCTAGATCGCCCTGAGGAGATAGGATCAGGCAGGAGGCTGTGGGAGCTGAGACCTCAGCCCTGTCACTCCTTCACTTTCTTCTTCCCTCTCTGGGCACCCACCTGGCAGCAAGAGGCCTGGACTTTTTCTGGATATGGCCCTATGTCCGCCTGCCATCTCCTGGGCTCGTATGTAGGACACAGAAAATGAGGAGGTTTACCTCCTGGCTTCCTCCTTGGGGCCTCCTGGCTGGGAGCCCAGAGGCAGCCGGTGCTGGGGCAGGGTGTGGTGGCCGCGAGGTGGGGGTGGGGAGCCCAGGCCCTCTACACAGGCAGCAGGAGGGCGCAGGCCTGGCTCCTCCGGCTCCACCTCAGCTTTTATGAACTCCAGAGAGAAGCCAAGTTTCCTCAGCCCCCTAATGAAACCGAGAGCAAGAGCGAGCTGATTGGAAACAGACGGGAGGAGGAAGAGCTGGGGCCTGCTCTGGGTTGGGAATTGCGTGTGCAAGGACGCGTATGTGAGGACACGTGTGTGAGTGATGAGGCTGAGCACATGAGAACACCGCCTAGGTGGCGGTGGCTGGGTGCACACCAGCTCGCACTCAGGAGATGTGTGTGCATATGTCAGACGGCCATCCTGAGCAGATGCTGGCTTTGTCTTCATCCAGAGCCCCAGGGAACCCTCTGCCTCCTCTTGTCCCCCACCCAGTCTCCCACCCAGGGCCTGAATTAAGGCAGGGCTAGTGAGGCACTCACCTTAGGTGCAGAGTGTCAGCAAGTATCAAAAACTCAGTCATCAAGATAAATAATATTTTAATGGAATATGTTTTAAAATCCAAACTATTGCAAAAAAAAGGGTATGGTAAGCAAACACCAGTTTTTTTGTTTGTTTTTCTTTTTCTTTTTTCAAAGACAGTTTCCTGCTCTATTACTCAGGCTGAATGCAGTGGCACGATTATAGCTCACTGAAGCCTTGAACTCCCAGACTCAAGTGATCCCTCCTGTGTGCCACCCTGGCTAATTTTTAAATGTTTGTTGTAGAGACGGGGTCTTGTTATGTTTCCCAGGCTGACCTCCAACTCCTGGATCAAGTGATCCTCCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGTATGAGCCACAGCACTCAGCCATGTCTTTGTTTAAAATGGTTTAAAATGTTGAGGCTGGGCACAGTGGCTCATGCTTGTAATCCCTGTACTTTGGGAGGCCAAGGCAGGAAGACTGCTTGAGGCCAGGAGTTCGAGGCTGCAGCGAGCTGTGATCATGCCACTGCACTACAGCCTGGATGACAGGGCGAGATCCTGTCTCTATTTAACAGATACTGGCTGGGCGCGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCA	G	C13075051G	NFIX	NM_001365902.3(NFIX):c.819-484_1079-700del	noncoding	Pathogenic
19	13078729	AGACC	A	G13078730A	NFIX	NM_001365902.3(NFIX):c.1073_1076del:p.Arg358fs	coding	Pathogenic
19	13078780	T	TGAGTATCTAGGGGCAGCTGGCC	A13078803G	NFIX	NM_001365902.3(NFIX):c.1078+46_1078+67dup	noncoding	Benign
19	13081461	G	GATT	T13081483A	NFIX	NM_001365902.3(NFIX):c.1079-218ATT[8]	noncoding	Benign
19	13110292	G	GA	C13110294A	TRMT1	NM_001136035.4(TRMT1):c.884dup:p.Leu296fs	coding	Pathogenic
19	13207858	C	CCTGCTGCTG	G13207899T	CACNA1A;LOC108663985	NM_001127222.2(CACNA1A):c.6937CAG[16]:p.Gln2325_Ala2326insGlnGlnGln	coding	Benign
19	13207858	C	CCTGCTG	G13207899T	CACNA1A	NM_001127222.2(CACNA1A):c.6937CAG[15]:p.Gln2324_Gln2325dup	coding	Benign
19	13207858	CCTG	C	T13207896G	CACNA1A	NM_001127222.2(CACNA1A):c.6937CAG[12]:p.Gln2325del	coding	Benign
19	13207858	CCTGCTG	C	T13207893G	CACNA1A	NM_001127222.2(CACNA1A):c.6937CAG[11]:p.Gln2324_Gln2325del	coding	Benign/Likely_benign
19	13207858	CCTGCTGCTGCTG	C	T13207887G	CACNA1A;LOC108663985	NM_001127222.2(CACNA1A):c.6937CAG[9]:p.Gln2322_Gln2325del	coding	Benign
19	13207858	CCTGCTGCTGCTGCTG	C	T13207884G	CACNA1A;LOC108663985	NM_001127222.2(CACNA1A):c.6937CAG[8]:p.Gln2321_Gln2325del	coding	Benign
19	13207858	CCTGCTGCTGCTGCTGCTG	C	T13207881G	CACNA1A	NM_001127222.2(CACNA1A):c.6937CAG[7]:p.Gln2320_Gln2325del	coding	Benign
19	13208168	AGGAGGG	A	G13208180A	CACNA1A	NM_001127222.2(CACNA1A):c.6781-121_6781-116del	noncoding	Benign
19	13208174	GGGAGGGGGA	G	G13208180A	CACNA1A	NM_001127222.2(CACNA1A):c.6781-130_6781-122del	noncoding	Benign
19	13208174	GGGAGGGGGAGGAGGAGGA	G	G13208180A	CACNA1A	NM_001127222.2(CACNA1A):c.6781-139_6781-122del	noncoding	Benign
19	13208180	GGGAGGAGGA	G	G13208194A	CACNA1A	NM_001127222.2(CACNA1A):c.6781-148TCC[4]	noncoding	Benign
19	13208937	CCCCGCTCCTGGT	C	G13208947T	CACNA1A	NM_001127222.2(CACNA1A):c.6587_6598del:p.Asp2196_Arg2199del	coding	Benign/Likely_benign
19	13209434	AGGCGTCG	A	G13209438C	CACNA1A	NM_001127222.2(CACNA1A):c.6397_6403del:p.Arg2133fs	coding	Pathogenic
19	13212008	AG	A	G13212011A	CACNA1A	NM_001127222.2(CACNA1A):c.6303+94del	noncoding	Benign
19	13212388	GAGTT	G	T13212391G	CACNA1A	NM_001127222.2(CACNA1A):c.6181_6184del:p.Asn2061fs	coding	Pathogenic
19	13212409	ATGTCGGTAGGGGGGCCT	A	C13212413T	CACNA1A	NM_001127222.2(CACNA1A):c.6147_6163del:p.Gln2049fs	coding	Pathogenic
19	13212458	AC	A	C13212459A	CACNA1A	NM_001127222.2(CACNA1A):c.6114del:p.Met2038fs	coding	Pathogenic
19	13212616	AG	A	G13212620T	CACNA1A	NM_001127222.2(CACNA1A):c.6050+14del	noncoding	Benign
19	13212623	ACACT	A	T13212627A	CACNA1A	NM_001127222.2(CACNA1A):c.6050+4_6050+7del	noncoding	Pathogenic
19	13212827	TAC	T	A13212848T	CACNA1A	NM_001127222.2(CACNA1A):c.5941-109GT[10]	noncoding	Benign
19	13212827	T	TACACACAC	T13212850A	CACNA1A	NM_001127222.2(CACNA1A):c.5941-109GT[15]	noncoding	Benign
19	13212827	T	TACACAC	T13212850A	CACNA1A	NM_001127222.2(CACNA1A):c.5941-109GT[14]	noncoding	Benign
19	13212827	T	TAC	T13212850A	CACNA1A	NM_001127222.2(CACNA1A):c.5941-109GT[12]	noncoding	Benign
19	13214288	AT	A	T13214289G	CACNA1A	NM_001127222.2(CACNA1A):c.5884del:p.Met1962fs	coding	Pathogenic
19	13214313	T	TC	A13214318C	CACNA1A	NM_001127222.2(CACNA1A):c.5859dup:p.Lys1954fs	coding	Pathogenic
19	13214340	G	GCA	G13214350A	CACNA1A	NM_001127222.2(CACNA1A):c.5840-15TG[5]	noncoding	Benign
19	13224652	CT	C	T13224653G	CACNA1A	NM_001127222.2(CACNA1A):c.5731+14del	noncoding	Benign/Likely_benign
19	13227359	T	TA	G13227369A	CACNA1A	NM_001127222.2(CACNA1A):c.5625+63dup	noncoding	Benign
19	13227366	AAAG	A	G13227381A	CACNA1A	NM_001127222.2(CACNA1A):c.5625+50CTT[4]	noncoding	Benign
19	13228494	AAT	A	A13228497G	CACNA1A	NM_001127222.2(CACNA1A):c.5529-969_5529-968del	noncoding	Benign
19	13228591	TAG	T	G13228605T	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1078CT[6]	noncoding	Benign
19	13228603	GAGAT	G	G13228605T	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1080_5529-1077del	noncoding	Benign
19	13228605	GAT	G	A13228624G	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1098AT[9]	noncoding	Benign
19	13228737	CGA	C	A13228741G	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del	coding	Pathogenic
19	13228740	GA	G	A13228741G	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1214del	coding	Pathogenic
19	13229062	TG	T	G13229071C	CACNA1A	NM_001127222.2(CACNA1A):c.5528+1019del	noncoding	Benign
19	13230132	G	GT	G13230134T	CACNA1A	NM_001127222.2(CACNA1A):c.5477dup:p.His1826fs	coding	Pathogenic
19	13230201	A	AT	C13230204T	CACNA1A	NM_001127222.2(CACNA1A):c.5408dup:p.Asn1803fs	coding	Pathogenic
19	13235665	A	AC	G13235667C	CACNA1A	NM_001127222.2(CACNA1A):c.5015dup:p.Gln1673fs	coding	Pathogenic
19	13253027	CAG	C	G13253033A	CACNA1A	NM_001127222.2(CACNA1A):c.4828_4829del:p.Leu1610fs	coding	Pathogenic
19	13253061	AC	A	C13253064G	CACNA1A	NM_001127222.2(CACNA1A):c.4795del:p.Val1599fs	coding	Pathogenic
19	13253071	CATT	TG	C13253071T	CACNA1A	NM_001127222.2(CACNA1A):c.4783_4786delinsCA:p.Asn1595fs	coding	Pathogenic
19	13253091	GC	G	C13253095A	CACNA1A	NM_001127222.2(CACNA1A):c.4765del:p.Ala1589fs	coding	Pathogenic
19	13259585	GA	G	A13259586C	CACNA1A	NM_001127222.2(CACNA1A):c.4366del:p.Ser1456fs	coding	Pathogenic
19	13262727	ATC	A	T13262730A	CACNA1A	NM_001127222.2(CACNA1A):c.4089+5_4089+6del	noncoding	Benign/Likely_benign
19	13262737	GA	G	A13262738G	CACNA1A	NM_001127222.2(CACNA1A):c.4085del:p.Leu1362fs	coding	Pathogenic
19	13275643	AG	A	G13275650T	CACNA1A	NM_001127222.2(CACNA1A):c.3989+206del	noncoding	Benign
19	13275856	GCAAA	TAAGTGAAGTGG	G13275856T	CACNA1A	NM_001127222.2(CACNA1A):c.3979_3983delinsCCACTTCACTTA:p.Phe1327fs	coding	Pathogenic
19	13275902	TCCAGAGGTCACGGAAGTAGGCAC	T	A13275905T	CACNA1A	NM_001127222.2(CACNA1A):c.3914_3936del:p.Gly1305fs	coding	Pathogenic
19	13277109	TAGTC	T	G13277111A	CACNA1A	NM_001127222.2(CACNA1A):c.3838_3841del:p.Asp1280fs	coding	Pathogenic
19	13285196	GT	G	T13285201G	CACNA1A	NM_001127222.2(CACNA1A):c.3563del:p.Asn1188fs	coding	Pathogenic
19	13286641	TC	T	C13286642T	CACNA1A	NM_001127222.2(CACNA1A):c.3414del:p.Thr1139fs	coding	Pathogenic
19	13286772	GCTGGGCT	G	C13286778G	CACNA1A	NM_001127222.2(CACNA1A):c.3277_3283del:p.Ser1093fs	coding	Pathogenic
19	13286886	TG	T	G13286888C	CACNA1A	NM_001127222.2(CACNA1A):c.3169del:p.Gln1057fs	coding	Pathogenic
19	13286950	C	CG	A13286953G	CACNA1A	NM_001127222.2(CACNA1A):c.3105dup:p.Gly1036fs	coding	Pathogenic
19	13298626	TC	AG	T13298626A	CACNA1A	NM_001127222.2(CACNA1A):c.3006_3007delinsCT:p.Arg1002_Arg1003delinsSerTer	coding	Pathogenic
19	13298636	G	GC	G13298642C	CACNA1A	NM_001127222.2(CACNA1A):c.2996dup:p.Glu1000fs	coding	Pathogenic
19	13298710	G	GCTCCGCCTTGTCCTCCGGACCCTCCT	C13298738T	CACNA1A	NM_001127222.2(CACNA1A):c.2897_2922dup:p.Ala977fs	coding	Pathogenic
19	13298792	CG	C	G13298796A	CACNA1A	NM_001127222.2(CACNA1A):c.2840del:p.Pro947fs	coding	Pathogenic
19	13299313	AC	A	C13299314A	CACNA1A	NM_001127222.2(CACNA1A):c.2319del:p.Trp774fs	coding	Pathogenic
19	13300317	A	AT	C13300328T	CACNA1A	NM_001127222.2(CACNA1A):c.2279+223dup	noncoding	Benign
19	13300317	AT	A	T13300327C	CACNA1A	NM_001127222.2(CACNA1A):c.2279+232del	noncoding	Benign
19	13303535	ACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTAGTATGCACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCCAAGAACGTGCCGTCGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAATCGCTTATGTGGGGGCTCAGAACTTCCCTTCATGGAAGGTTTCCTCTTCAACTCCCTGTCTTGGGGTCTCATTTAGAAACTACCTCCCCAGGAGAAGGAGAGAGTGAAGTCACATTTTCTATACACTCTCAGTCCCTCAAAGAGAAAGAATCCACCAAAGATGCTCTGAAGGTCCCGGCTGGGCCAGTCCCAAGCCTCAGGGAATGCGCCCACATGGGTGCAGAAGTTGCTTTGGGTTGATCACCCTGGAATATGAGACCAAGGTATCTTCAGATTTGATGGGTGTATTAGCCATTTTTTTTCTCTGCCTTTTTTTTAAGAGACAGGGCCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAG	A	C13303536G	CACNA1A	NM_001127222.2(CACNA1A):c.1914-10_2172+10del	noncoding	Pathogenic
19	13330588	GTTTA	G	A13330600G	CACNA1A	NM_001127222.2(CACNA1A):c.1256-267TAAA[2]	noncoding	Benign
19	13334555	GTGTGTT	G	T13334561G	CACNA1A	NM_001127222.2(CACNA1A):c.1083-68_1083-63del	noncoding	Benign
19	13334557	GTGTT	G	T13334561G	CACNA1A	NM_001127222.2(CACNA1A):c.1083-68_1083-65del	noncoding	Benign
19	13334559	GTT	G	T13334561G	CACNA1A	NM_001127222.2(CACNA1A):c.1083-68_1083-67del	noncoding	Benign
19	13335849	CGAT	C	T13335858G	CACNA1A	NM_001127222.2(CACNA1A):c.1030ATC[2]:p.Ile346del	coding	Pathogenic
19	13359707	C	CT	C13359710T	CACNA1A	NM_001127222.2(CACNA1A):c.876dup:p.Gly293fs	coding	Pathogenic
19	13359742	CA	C	A13359743G	CACNA1A	NM_001127222.2(CACNA1A):c.841del:p.Cys281fs	coding	Pathogenic
19	13360024	G	GT	C13360039T	CACNA1A	NM_001127222.2(CACNA1A):c.785-239dup	noncoding	Benign
19	13365471	T	TG	A13365478G	CACNA1A	NM_001127222.2(CACNA1A):c.632-3dup	noncoding	Benign
19	13452888	AC	A	C13452890A	CACNA1A	NM_001127222.2(CACNA1A):c.526del:p.Val176fs	coding	Pathogenic
19	13452943	C	CA	C13452947A	CACNA1A	NM_001127222.2(CACNA1A):c.471dup:p.Ala158fs	coding	Pathogenic
19	13506099	G	GGGCTGCCCGCCCTGCC	C13506124G	CACNA1A	NM_001127222.2(CACNA1A):c.110_125dup:p.Gly43fs	coding	Pathogenic
19	13506276	A	ACGC	T13506301C	CACNA1A	NM_001127222.2(CACNA1A):c.-76GCG[9]	noncoding	Benign
19	13919513	AAATCACTTGAGGCCAGGAGTTCAAGACCAGCTTGGGCAACGTGGCAAGACCCCGTGGCTACAAGAAATTTAAAAATTAGCCTGGTGTGGTGGTGCACACCTGCAGTCCCACTCTAGATCATGCCACTGTACTCCAGCCTGGGCAACAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATTAATTAATTAAAAAAAGTAAAGGCCCAAGACTCTATAGGTGGGAGAGGAATCTGCATCTCCACCATAATGGTGTGAGTTGGTCTCCATCCTGACACACAATAACCAGGCCTCGACTGGCCACCCAGGCTTCCCCCCAATCCAGGGCCTGGAGGCCACCAAGCCCACCCAGCAGAGTCTGGTGGGTGTCCTGGAGACTGCCATGAAGCTGGCCAACCAGGATGAAGGCCCAGAGGATGAAGAGGATGAGGTGCCTAAGAAGGTTTGAGGGTTGGGGCCGGGCGCAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAATCCAAGATGGGAGGATCGCTTGAGGCCAGGAGTTTGAGACCATCCTGGGCCACACAGTGAGACCCCCGTCTCTACAAAAAAATTTTTTAAAATTAGCCAGGCATGGTGGGACTCACCTGTAGTCCCTGCTACTTGGGAGACTGAGGTGGGAGGATCACCTGAACTAAGGAGTTCAAGGCTGCAGTGAGCCATGGTCATGCCACTGTACGCCAGTCTGGGTGACAGAGCAAGACCTCATCTCCAAGACAATTAAAAAAAAAAAAAAGTGTTTGGTGAGAATTGCTTGAACCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCTACTGCACTCCAGCCTGGACGATACAGTGATACTCTGTCTCAAAAAAGAAAAAAAAAAAAAAAAAGGTGTTTGGGGCCAGGGGCTTTGAGTGAGGCAGGGGAGTAGCAAAGTCCTGGGAGCCCACTAAATGACCACTGTTGTCACCATCAGACCCTGATCCTTGGGGACTGGACTCATCACAGGCGCTACGAAATCTCTAACATCCTCTCTCTTCCTCTACAGCAGAACAGCCCTGTGGCCCCCACAGCCCAGCCCAAAGCCCCACCCTCAAGAACTCCCCAGTCGGGATCAGCCCCAACAGCCAAAGCGCCCCCCAAAGCCACATCCACCAGAGGTAAGTTCCCCCTCCCCGCCCCAGCTGCCTGTTGCCTGGCTGTGGCCTGGGCAGCACCCATAGCAGCTCCTATGCCCACAGCCCAGCAGCAGCTGGCCTTCCTAGAGGGCCGCAAGAAGCAGCTCCTGCAGGCCGCACTGCGAGCCAAGCAGAAAAACGACGTGGAGGGTGCCAAGATGCACCTGCGCCAAGCCAAGGGACTGGAGCCTATGCTGGAGGCCTCGCGCAATGGGCTGCCTGTGGACATCACCAAGGTGAACCTTCTGGGCTTGTGGGAACTGCCCAGGCACCCACTTGTCAGGCTCCTGCCCCTTAGCAGCCACGTGAACTAGAAGTGTATTAGTCAAGGTCCAGCTGCTGTAACAAATAGGTCCTCCCAAGACAATGGCTGAAAGGAGACAGACATTTATTATGTTTCTTGCATGTACCACCCAGGGCAGTCTGGGCTCTGCAAATGGGAGGTCCTCCAGGGCCTGAGTTTCTTCCACCTTATTGCTTTGCTGCACCTGAGGGGGTTGTCCTTGTCCACATGATCCAAGTGGATCCTGTCAGAAGGACTAGAGAAAGAGGCAGAGCTAGTAGTCCCTTTTAAAGGAAGTGACATCACTATTGCTTGTCTCCCATTGGCCAGAACTAAGTAACATGGCCACATTTAGCCACAGAGGAGGCTGGGACATGTAGTCTCTTGTTGGTGCACTGTGTGACCAGCCTGAGCTCCATTACTAGGGAAGGGGAGGGGATCAGATCTGGGGAGACACTTAGATTCTGCCACTTAGGACAGGACCATTCCTTTTTCTCTGAGCATCATTTTTCTCAGAGAAGTGGGGATGGCCACCCCTGCCTCAAAGAAAGACAGCCAGGATTCCTCATGTGATAGAATAGTACTCATAATAGGAAACATTTGAGGAGCTTGAACTGGGCGCCCAGCAAAGGCCACCCAGTTTAAGGAAGTGACATCACTTTTGCTTGCCTCCCATTGGCCCAAACAGTCACATGGCTACATTTAGCCTCAGAGGAGCCTGGGACATGTAGTCTTTGCTGGACACTGGAGACATGGCCTTGAGCAAAAAAGGCAAAAATCCACACTCTCTCTGGACATGGTGGGTCACACCTGTAATTCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTCCTTGAGGCCAGGAGCTCGAAACTAGCCTGGGAAACACAGTGAGACTCACTGTCATGGAGTGGATGTTCTAATTGAGAGACCACAAGAAACACACAAATAAATACAGCACCTTATCACGGCCCATGAAGACTGCACCATCTGCCCCATCAGCTCCCTTGCCTGGTCTCTTTCTTGTTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCATCCAGGCTGGAATGCAGTGGCACGACCTCAGCTCACTGCAACCTCTACCTCCCAGGCTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGAACTACAGGCACACGCCACCATGCCCGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGGCTTGAACTCCTGACCTCAGGCAATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTGCCCCTTCTCTTTCACCCACCCCCTCGCTCACTCTTCCCCTTGCTGTCTGGTAGCCTCAAACACCAGGCACTCTGCAACCTCAGGGCCTTTGCACATGCAGTTCCCACTGCCTGAATGCTTTTCCCACAGACACCTGTGTGGTTCACTTTCTCCCATCATTAGGTCTCTGCTCAGACATCACATCTCCAGGAGGCCTACCCTGAGCTGTCTAAAATCCCTCCCTGTCACCCAGATCCCTCTGCTCCTCCTCCCAGCTCTGCCTCTCCCTGTGGCATGTATCACCTTCTACTCTCTCATATGATTTACTTATTTCTTCTGATTATTGCCCATCTCCCCCAAGAGAATGTCAGCCCCACGAGGGCAGGGATTTTGTTCTCTCTTCTTCATCCTTGTGTCCCCAGCCCCAAAGCAGAGCCTAGCGCACAGTAGGGGCTCCATACATGATTTCTCAAACTCTTGAGCTCAAGCAATCCACCCGCCTTAGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACTGCACCCGGCACCATACATGATTTCTGGGGTGACTGAAGGATGCCCTTGTTAAATGGGACAATGGAAGGATCAAGAAGAAAGAACAGAGGCCGGGCATGGTCTTTCATGCCTGTAATCCTAGCAATTAAGGAGGCCAAGGCCAGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAG	A	G13919524A	CC2D1A	NM_017721.5(CC2D1A):c.1223-294_1642-220del	noncoding	Pathogenic
19	14159189	C	CT	G14159191T	ADGRL1	NM_014921.5(ADGRL1):c.2049dup:p.Glu684fs	coding	Pathogenic
19	14743786	TGGATTGAGTAAGAAA	T	T14743790G	ADGRE2	NM_013447.4(ADGRE2):c.2184-17_2184-3del	noncoding	Benign
19	14746319	T	TTGGCCGGGCGCGGTGGC	C14746321G	ADGRE2	NM_013447.4(ADGRE2):c.2095_2096insGCCACCGCGCCCGGCCA:p.Asn699fs	coding	Benign
19	14746320	T	TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG	C14746321G	ADGRE2	NM_013447.4(ADGRE2):c.2094_2095insCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC:p.Asn699delinsLeuGlyLeuGlnAlaTer	coding	Benign
19	14746322	A	ACG	C14746324G	ADGRE2	NM_013447.4(ADGRE2):c.2092_2093insCG:p.Val698fs	coding	Benign
19	14751639	GT	G	T14751640G	ADGRE2	NM_013447.4(ADGRE2):c.1820del:p.His607fs	coding	Benign
19	14751654	G	GATGATGGAGCACAGCATC	C14751671T	ADGRE2	NM_013447.4(ADGRE2):c.1805_1806insGATGCTGTGCTCCATCAT:p.Ile601_Ile602insMetMetLeuCysSerIle	coding	Benign
19	14752487	GC	G	C14752491A	ADGRE2	NM_013447.4(ADGRE2):c.1629del:p.Gly543_Leu544insTer	coding	Benign
19	14755051	GT	G	T14755052G	ADGRE2	NM_013447.4(ADGRE2):c.1492del:p.Thr498fs	coding	Benign
19	14774284	CAG	C	A14774287T	ADGRE2	NM_013447.4(ADGRE2):c.52_53del:p.Leu18fs	coding	Benign
19	15162765	GTGTGTGTT	G	T15162773G	NOTCH3	NM_000435.3(NOTCH3):c.5816-211_5816-204del	noncoding	Benign
19	15162784	TGTGTGTGTGC	T	T15162788C	NOTCH3	NM_000435.3(NOTCH3):c.5816-232_5816-223del	noncoding	Benign
19	15162790	TGTGC	T	G15162795A	NOTCH3	NM_000435.3(NOTCH3):c.5816-232_5816-229del	noncoding	Benign
19	15166954	T	TG	C15166955G	NOTCH3	NM_000435.3(NOTCH3):c.5362+294_5362+295insC	noncoding	Benign
19	15174055	T	TG	T15174060G	NOTCH3	NM_000435.3(NOTCH3):c.4736+9dup	noncoding	Benign
19	15189446	GA	G	A15189448G	NOTCH3	NM_000435.3(NOTCH3):c.1037-19del	noncoding	Benign
19	15191504	GC	CA	G15191504C	NOTCH3	NM_000435.3(NOTCH3):c.955_956delinsTG:p.Ala319Cys	coding	Pathogenic
19	15192487	T	TGACACCGCTCACCCACCC	A15192506G	NOTCH3	NM_000435.3(NOTCH3):c.212_229dup:p.Cys76_Gln77insArgValGlyGluArgCys	coding	Pathogenic
19	15239131	C	CGCTCCTCTTTCTCCCGA	G15239151T	BRD4	NM_001379291.1(BRD4):c.3693_3709dup:p.Arg1237fs	coding	Pathogenic
19	15249015	AG	A	G15249017A	BRD4	NM_001379291.1(BRD4):c.2159-4254del	coding	Benign
19	15251438	C	CGGGGGGG	C15251456G	BRD4	NM_001379291.1(BRD4):c.2158+2707_2158+2713dup	noncoding	Benign
19	15253324	GAAT	G	A15253328G	BRD4	NM_001379291.1(BRD4):c.2158+825_2158+827del	noncoding	Benign
19	15255199	A	AG	C15255209G	BRD4	NM_001379291.1(BRD4):c.2047+89dup	noncoding	Benign
19	15255199	A	AGG	C15255209G	BRD4	NM_001379291.1(BRD4):c.2047+89_2047+90dup	noncoding	Benign
19	15267623	GCCAC	G	A15267630C	BRD4	NM_001379291.1(BRD4):c.424-76_424-73del	noncoding	Benign
19	15269244	T	TG	A15269249G	BRD4	NM_001379291.1(BRD4):c.286-206dup	noncoding	Benign
19	15540737	AAT	A	A15540738T	CYP4F22	NM_173483.4(CYP4F22):c.939+21_939+22del	noncoding	Benign
19	15540745	G	GAGC	C15540746A	CYP4F22	NM_173483.4(CYP4F22):c.939+28_939+29insAGC	noncoding	Benign
19	15540751	CG	C	G15540752A	CYP4F22	NM_173483.4(CYP4F22):c.939+35del	noncoding	Benign
19	15543858	GAA	G	A15543876G	CYP4F22	NM_173483.4(CYP4F22):c.940-95_940-94del	noncoding	Benign
19	15547968	TGA	T	A15547994G	CYP4F22	NM_173483.4(CYP4F22):c.1137-139GA[12]	noncoding	Benign
19	15547986	AGAGAGAGAGG	A	A15547994T	CYP4F22	NM_173483.4(CYP4F22):c.1137-114_1137-105del	noncoding	Benign
19	15547988	AGAGAGAGG	A	G15547996T	CYP4F22	NM_173483.4(CYP4F22):c.1137-112_1137-105del	noncoding	Benign
19	15547990	AGAGAGG	A	G15547996A	CYP4F22	NM_173483.4(CYP4F22):c.1137-112_1137-107del	noncoding	Benign
19	15547992	AGAGGGAGAGAGT	A	A15547994T	CYP4F22	NM_173483.4(CYP4F22):c.1137-114_1137-103del	noncoding	Benign
19	15547992	AGAGGGAGAGAGTGTGTGTGT	A	A15547994T	CYP4F22	NM_173483.4(CYP4F22):c.1137-114_1137-95del	noncoding	Benign
19	15547994	AGGGAGAGAGTGTGT	A	G15547996T	CYP4F22	NM_173483.4(CYP4F22):c.1137-112_1137-99del	noncoding	Benign
19	15548002	A	AGT	T15548051G	CYP4F22	NM_173483.4(CYP4F22):c.1137-105GT[25]	noncoding	Benign
19	15550572	CT	C	T15550573C	CYP4F22	NM_173483.4(CYP4F22):c.1336-101del	noncoding	Benign
19	16482378	CAACAA	C	A16482403C	CALR3	NM_145046.5(CALR3):c.918+47TTGTT[4]	noncoding	Benign
19	16482588	C	CA	C16482596A	CALR3	NM_145046.5(CALR3):c.787-14dup	noncoding	Benign
19	16495558	CAAA	C	A16495577G	CALR3	NM_145046.5(CALR3):c.193+190_193+192del	noncoding	Benign
19	16495558	CAA	C	A16495578G	CALR3	NM_145046.5(CALR3):c.193+191_193+192del	noncoding	Benign
19	16495558	C	CAA	G16495580A	CALR3	NM_145046.5(CALR3):c.193+172_193+173dup	noncoding	Benign
19	16495558	C	CA	G16495580A	CALR3	NM_145046.5(CALR3):c.193+172dup	noncoding	Benign
19	16898144	C	CT	C16898160T	CPAMD8	NM_015692.5(CPAMD8):c.4849-165dup	noncoding	Benign
19	16901139	A	AC	T16901143C	CPAMD8	NM_015692.5(CPAMD8):c.4773+68dup	noncoding	Benign
19	16903366	TGGGGGTGGCACACCTGAGA	T	G16903369A	CPAMD8	NM_015692.5(CPAMD8):c.4470+176_4470+194del	noncoding	Benign
19	16928769	G	GT	C16928785T	CPAMD8	NM_015692.5(CPAMD8):c.3144+158dup	noncoding	Benign
19	16958088	GGTTAACA	G	T16958091C	CPAMD8	NM_015692.5(CPAMD8):c.2214-180_2214-174del	noncoding	Benign
19	16989856	G	GA	G16989859A	CPAMD8	NM_015692.5(CPAMD8):c.1267-87dup	noncoding	Benign
19	17009095	TC	T	C17009096A	CPAMD8	NM_015692.5(CPAMD8):c.504+207del	noncoding	Benign
19	17009096	CA	C	A17009107G	CPAMD8	NM_015692.5(CPAMD8):c.504+206del	noncoding	Benign
19	17338523	T	TG	A17338527G	GTPBP3	NM_032620.4(GTPBP3):c.389-13dup	noncoding	Benign
19	17338661	GC	G	C17338662G	GTPBP3	NM_032620.4(GTPBP3):c.512del:p.Ala171fs	coding	Pathogenic
19	17338667	CGGCGGCA	C	G17338671C	GTPBP3	NM_032620.4(GTPBP3):c.521_527del:p.Arg174fs	coding	Pathogenic
19	17338944	GC	G	C17338948G	GTPBP3	NM_032620.4(GTPBP3):c.592-6del	noncoding	Benign
19	17339046	GGGGA	G	G17339049A	GTPBP3	NM_032620.4(GTPBP3):c.664+23_664+26del	coding	Pathogenic
19	17339074	CAA	C	A17339076G	GTPBP3	NM_032620.4(GTPBP3):c.665-47_665-46del	coding	Pathogenic
19	17339547	C	CG	A17339551G	GTPBP3	NM_032620.4(GTPBP3):c.925dup:p.Glu309fs	coding	Pathogenic
19	17339616	GTGA	G	A17339619G	GTPBP3	NM_032620.4(GTPBP3):c.974+20_974+22del	noncoding	Benign/Likely_benign
19	17341031	CT	C	T17341033G	GTPBP3	NM_032620.4(GTPBP3):c.975-11del	noncoding	Benign
19	17770590	T	TG	T17770598G	FCHO1	NM_015122.3(FCHO1):c.489+20dup	noncoding	Benign
19	17778636	GC	G	C17778640T	FCHO1	NM_015122.3(FCHO1):c.1383del:p.Ser462fs	coding	Pathogenic
19	17781350	G	GA	G17781352A	FCHO1	NM_015122.3(FCHO1):c.1740+8dup	noncoding	Benign
19	17781356	GC	AA	G17781356A	FCHO1	NM_015122.3(FCHO1):c.1740+13_1740+14delinsAA	noncoding	Benign
19	17781714	G	GTC	C17781719T	FCHO1	NM_015122.3(FCHO1):c.1834_1835dup:p.Arg613fs	coding	Pathogenic
19	17784254	GC	G	C17784256G	FCHO1	NM_015122.3(FCHO1):c.2226+21del	noncoding	Benign
19	17829771	GA	G	A17829782C	JAK3	NM_000215.4(JAK3):c.3207+336del	noncoding	Benign
19	17829771	G	GA	C17829783A	JAK3	NM_000215.4(JAK3):c.3207+326dup	noncoding	Benign
19	17830853	TG	T	G17830858C	JAK3	NM_000215.4(JAK3):c.2979-234del	noncoding	Benign
19	17831656	C	CG	C17831661G	JAK3	NM_000215.4(JAK3):c.2805+17dup	noncoding	Benign
19	17836981	CATAA	C	T17836987G	JAK3	NM_000215.4(JAK3):c.1786+144_1786+147del	noncoding	Benign
19	17837115	T	TG	C17837122G	JAK3	NM_000215.4(JAK3):c.1786+13dup	noncoding	Benign
19	17839534	G	GC	A17839541C	JAK3	NM_000215.4(JAK3):c.1383dup:p.Leu462fs	coding	Pathogenic
19	17839679	G	GCCC	T17839684C	JAK3	NM_000215.4(JAK3):c.1255-19_1255-17dup	noncoding	Benign
19	17839738	C	CT	G17839758T	JAK3	NM_000215.4(JAK3):c.1255-94dup	noncoding	Benign
19	17840305	G	GC	A17840311C	JAK3	NM_000215.4(JAK3):c.1178dup:p.Ser394fs	coding	Pathogenic
19	17843760	T	TG	C17843767G	JAK3	NM_000215.4(JAK3):c.308+16dup	noncoding	Benign
19	17883522	A	AGC	G17883524C	SLC5A5	NM_000453.3(SLC5A5):c.1243-158_1243-157insCG	noncoding	Benign
19	17894150	T	TTTTC	T17894154C	SLC5A5	NM_000453.3(SLC5A5):c.*276_*277insCTTT	noncoding	Benign/Likely_benign
19	18068476	AAC	A	A18068479T	IL12RB1	NM_005535.3(IL12RB1):c.1238_1239del:p.Cys413fs	coding	Pathogenic
19	18069668	ATGG	A	G18069673C	IL12RB1	NM_005535.3(IL12RB1):c.1061CCA[1]:p.Thr355del	coding	Pathogenic
19	18075749	CA	C	A18075750G	IL12RB1	NM_005535.3(IL12RB1):c.699del:p.Glu234fs	coding	Pathogenic
19	18080871	C	CT	G18080873T	IL12RB1	NM_005535.3(IL12RB1):c.369dup:p.Glu124fs	coding	Pathogenic
19	18155196	C	CAA	C18155217A	PIK3R2	NM_005027.4(PIK3R2):c.-423-242_-423-241dup	noncoding	Benign
19	18155196	C	CA	C18155217A	PIK3R2	NM_005027.4(PIK3R2):c.-423-241dup	noncoding	Benign
19	18160454	CCT	C	C18160455G	PIK3R2	NM_005027.4(PIK3R2):c.323-16_323-15del	noncoding	Benign
19	18160455	CT	C	T18160456G	PIK3R2	NM_005027.4(PIK3R2):c.323-15del	noncoding	Benign
19	18160580	C	CT	G18160582T	PIK3R2	NM_005027.4(PIK3R2):c.415+18dup	noncoding	Benign
19	18168712	G	GC	A18168719C	PIK3R2	NM_005027.4(PIK3R2):c.1809-8dup	noncoding	Benign
19	18597038	GG	A	G18597038A	CRLF1	NM_004750.5(CRLF1):c.708_709delinsT:p.Pro238fs	coding	Pathogenic
19	18597201	GATAT	G	T18597205A	CRLF1	NM_004750.5(CRLF1):c.698-156_698-153del	noncoding	Benign
19	18786076	CTGA	C	T18786077G	COMP	NM_000095.3(COMP):c.1375_1377del:p.Ser459del	coding	Pathogenic
19	18786716	A	AG	C18786719G	COMP	NM_000095.3(COMP):c.1136-68dup	noncoding	Benign
19	18787503	TGTC	T	T18787511C	COMP	NM_000095.3(COMP):c.1114GAC[2]:p.Asp374del	coding	Pathogenic/Likely_pathogenic
19	18787599	TGTCCTC	T	T18787604G	COMP	NM_000095.3(COMP):c.1021_1026del:p.Glu341_Asp342del	coding	Pathogenic/Likely_pathogenic
19	18787717	CCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCAT	C	A18787719G	COMP	NM_000095.3(COMP):c.917_976-68del	noncoding	Pathogenic
19	18868973	A	AG	T18868979G	CERS1	NM_021267.5(CERS1):c.*1011dup	coding	Pathogenic
19	18869246	G	GCGC	C18869248G	GDF1	NM_001492.6(GDF1):c.469_470insGCG:p.Ala156_Ala157insGly	coding	Benign
19	18870043	G	GT	G18870046T	GDF1	NM_001492.6(GDF1):c.264dup:p.Pro89fs	coding	Pathogenic
19	19096212	A	ACCCCGGCCTCCTGGGATGGGTGTTCTCCTGGGG	A19096250G	SLC25A42	NM_178526.5(SLC25A42):c.81+12_81+44dup	noncoding	Benign
19	19104803	T	TA	G19104804A	SLC25A42	NM_178526.5(SLC25A42):c.188-110_188-109insA	noncoding	Benign
19	19197047	G	CAC	G19197047C	RFXANK	NM_003721.4(RFXANK):c.271+1delinsCAC	coding	Pathogenic
19	19197047	G	TCAC	G19197047T	RFXANK	NM_003721.4(RFXANK):c.271+1delinsTCAC	coding	Pathogenic
19	19197495	TGGTATTGCCCGCCTCCTCCTGCCAGG	T	G19197496T	RFXANK	NM_003721.4(RFXANK):c.338-25_338del	noncoding	Pathogenic
19	19197565	CT	C	T19197566C	RFXANK	NM_003721.4(RFXANK):c.383del:p.Leu128fs	coding	Pathogenic
19	19198121	CAT	C	A19198122C	RFXANK	NM_003721.4(RFXANK):c.454_455del:p.Ile152fs	coding	Pathogenic/Likely_pathogenic
19	19198689	CGG	C	G19198691A	RFXANK	NM_003721.4(RFXANK):c.599_600del:p.Gly200fs	coding	Pathogenic
19	19527299	CT	C	T19527301C	NDUFA13	NM_015965.7(NDUFA13):c.194del:p.Phe65fs	coding	Pathogenic
19	19527683	T	TCGGC	C19527689G	NDUFA13	NM_015965.7(NDUFA13):c.246-16_246-13dup	noncoding	Benign
19	29702734	G	GC	G29702738C	C19orf12	NM_031448.6(C19orf12):c.403dup:p.Ala135fs	coding	Pathogenic
19	29702955	T	TA	C29702958A	C19orf12	NM_031448.6(C19orf12):c.182dup:p.Leu61fs	coding	Pathogenic
19	29702971	GC	G	C29702978T	C19orf12	NM_001031726.3(C19orf12):c.199delG	coding	Pathogenic
19	29705402	CAAAA	C	A29705421G	C19orf12	NM_031448.6(C19orf12):c.161-2429_161-2426del	noncoding	Benign
19	29705402	CAAA	C	A29705422G	C19orf12	NM_031448.6(C19orf12):c.161-2428_161-2426del	noncoding	Benign
19	29705402	CAA	C	A29705423G	C19orf12	NM_031448.6(C19orf12):c.161-2427_161-2426del	noncoding	Benign
19	29705402	CA	C	A29705424G	C19orf12	NM_031448.6(C19orf12):c.161-2426del	noncoding	Benign
19	29705510	GT	G	T29705525C	C19orf12	NM_031448.6(C19orf12):c.161-2534del	noncoding	Benign
19	32676586	CGCGGCGGCCGCTGGTGCGC	ACCGGCG	C32676586A	RGS9BP	NM_207391.3(RGS9BP):c.323_342delinsACCGGCG:p.Pro108fs	coding	Pathogenic
19	32830811	A	AGG	A32830814G	SLC7A9	NM_014270.5(SLC7A9):c.1400-129_1400-128dup	noncoding	Benign
19	32833146	T	TA	C32833148A	SLC7A9	NM_014270.5(SLC7A9):c.1399+2dup	noncoding	Pathogenic
19	32833223	AGCACACAGTAGAGGTACTCCCAGGTGGGCTTGCTGATGATTGGAGCCAGAACCAAAAACACAGAGATGAGTGTCATCAAGACGGGAATGACTACGGGCACCTGGAGACGAAAAACAGGTCATGGGTACCCATTTTCTTTTTGAAATTTTTCATGATAAAAAACCGATTTTTATAAAAAGAGTATGAACTCCATGTACCCCCTCCTCCAATTTCAATCATTTTAATGTAATTTTGCCAATCTTATTTCATCTATACCTTTTAAAAATTTTCTTTACTTTTTAAAAAGTTTTTTGGCCGGGCATGGGTGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCGAGGCCGGTGGGTCCCTTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATAGTGAAACACCATCTCTACCAAAAACACAAAAGTTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTCCTCAGGAGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCTAGCCTGGGCCACGGGAGGGAAACTCCATCTCAAAAAAGAAAAAAAAAAATAGATAAACTGTTTAATGTTTTAGCATCCACTGATGATCGTTGCCTTCATTGTTTCATCAGGGTTTGCAAAATGGTGATTTTTCTAATTTGTAATTTCTTCCTCAATTATCTGAAATGCTATATGAAGTACTTCAACTTTCTGGTTATTCTGAATTGCAGTTCATACAGGAAAGGCAGGATTAGTGCTGTATTCTGTGTGTTTCCAGAATGACAAGTTGGGCCCCTGAGACCTCCAAAGGCAACTCCAGCCTGTGGGTTTTTCTATACATGGTGAGTTTCAACCCGTTGTAGTCATTGTTCACGTTGTTCAGAAGGTCCTGTGCGGGGCGGCAGGAACCCCTCACACTGTCCTGGGCCCTGGGAATGGGACGCCAGTGCTCTTCAAAAGCCTCTTTGTTTTCTGGGTGACAAGAAGTGCCATACCTGGGTTTTCATTTATCTCTCCAGAGCCAGACGTGGGTTTTCATCCATTTCTCCAGAGAGCTTTGTTTCCTTTTAGCAGGAAATGGCATTTAAAGACCATAACCTGGAGGCTGGCTGCAGTGGTTCGCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCTAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCAGATGCCTGTAATCCCAGCAACTTGGGAAGCTGAAGCAGGAGAGTCGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCAAAGAATGTGCCACTGCACTCCAGCCCAGGAGACAGAGTGAGACTCTAAAAATAAATAAAGACCATAACCTGGGTGATTGGAGTACTCATTATCCTTTTTCAAGGACAGAGATTAATTTTGGTATTCTCTTATTAGGAACAAAGTTAAGTTTGCTGGGATTGTTTTGTTTTCATTTTTAAGTGTCATTGCATTTTTCCTTTGACTGTGTTTTTTTGTTTGTTTTGTTTCCCAAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAACAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCAACATGCCCAGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCTGCCCATCTTGGCCTCCCAGAGCGCTGGGATTACAGGCATGAGCCAATCACACCCAGCCCCTGAATTAAACTTTTAATTAATGGATTTTCGGTCTTCAGCTACCTTTGCATAGGCTGGACCTAGTCATGATATATTATCTTTTTAGTGTAACTGGGTTCTGTTTGTTAACATTTTATTTTAGATTTTTTATATCGTTATTCCTAAGTGAGATTGGTGAGTACATTTCCCTTTTTTGTGTGAAGTTACCTTTGTAAGGTTTGGTGTCAATGTTACAGTCTAAAAATAATTTGAAAAATCAATAAAATCAATAGCTAACCTTAAAAAGGAGAAAGCACAAACACAAATAAAAAATAAAAATGGGCAATTAATCTTTACAACATAAGTTATGTTCTAAAGATTAATACAAATCATAAGACTATTTTGTACAACTCTATACAGATAAATTTGAATACATGGAAGAAATGAACAATTTTCTAGGAAAATGTAATTTACTAAAACTGATCTTAGTTGCATTAGAATCACAGGGAAATTCTAAAAATCAGACAATTCCAGTATTGCTTAATTTATTCCAGAGCATTGAAAAAGGAGGAAAACTTTCAAAAAGACTGATTATTATTCACTCATTCATTCATTTCTGTTTTTTCTAACACCTTAAGTTTTTTTCTGCTTATTAGTTCCTTCTGTTTTCTTTTGGTTTTCTGTTGTTCTTTATCTTGCTTTTGGAGTTGTCTATTTAATTTGTTTTCATTTTTATTGATATATTTAATGTAATGGAGCTTCCTCAAAGCACTATTTAAGCTGTGTTCATAGATTATATGTCCTGTCATCATTACTGCTATTTCTAGGAATTTATGTACTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTCCGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCAGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCGGCCTCAGCCTCCCAACATGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATGCAACCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAATTTATGTACTTTTATCTTCTATTTCTATTAATATTTCCTCTTGGACCCAAAAGTTTAACTTTTTTCTTTTATCAATTTCCTGTTTTGTTTCATTAAAGAGAGAGAATGTTATTTGCTTTTTGGTTGTTTTGATTTCTGGGGTTTTCTTTTTGAAATATCAAGGTTTTCTTCATGGCATTAAAAGCTGTCAGTTTTCAGACAGGTCCCATTTGCAACTGAAAAAGGTATACTCGCTGTTGCTGGGGTTCGGGGCTTGATACAAACCTCTAAGATCTATCTTGCTATATTTTAGATCCCCAGTCACTTTTACCAGTGCTGCGTCCAGATCTGTCTTGGCCTGAAGGAGGTGTTTTCCAGTCACCTGTTATTAACGTGTTTCTCCCTCCGTGGATTTCCTGCAGTTTCTGCTTCGTAAAGATGGTTGCTATATGGTTTGGTGAATAGGTTTTCAAAACTTACCTCTTCATTGTGGATTTTAGCCTTTAGCATGGCCTGTCTTTGTCTTAAATAATGCTTTGGGCCTGAGCACTTGTCTGATAAGATCACAGCCCCTGTTTTTCTGTATATTCATTTGCTTGATATTTCTCTGCCTGTTCTTTTAATTTTTCACAGCTTTGAAGATCCGCCTGAAAAATCTTTTACTTTCAATGGCTGATGTAAGTCCAATTTAAATGGAGTAAGCCCGTTTATTCATATAATGATAAGTCTGGTCTCCATTCTCTCGTGTTGTTTTATCTTTCTGTATACAAGCATCCTCTACTCACTGTCAGTCTTGCGTCCTCGAAGAGTGATGTTCTATGGAAGAACCCCCCAGGCCTGTGTCCCTTCTTTTAAATTCACCATAGGAAACCTCAAATTTCCTGCCAGGTGCTGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGAAGATAACTTGAGCCAGGAGTTCAAGACCAGTCTGGCCCACATGGCGAAACCCCATGTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTGGTCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCACGGTTGCAGTGAGTTGTAATCACACCACTGCACTCCAGCCTGGGTGACAGAGGAGATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACCTCAAATTCCCAACCAAAAAACAGTAAATGTGCATATAAATAACATGTTACCCAACACAGATTACATTAGATGGTAAACTGTGTTTAAAATAATTTTTGGTGACCAAACAGTTAACATGGTTGTTGACCAATGACTGCCTTTAATGCAATAACATGGTCTCGCAAGACGTGAGACGCTTACACCTCACACTGTCAGTACGCCTACACGTGGCTTTCAGTACGCCTACACGTGATTTTGATGTGTGTTGAATTTGGAATGTAACTTGAAACTTTTATCACACATTTTGTCAAAAGTTTATACTACATTTTGGGGATTCAGATACTGATTTTTCCATATAAATATCAGCTGGAAATGAAAGCATTTAGAGATGCATGGATTCTATAGTTCAGGGTGTTAAAAGCTAATAAGCAAAAAATAGCAATGACAAAAAATCCTAATAAGCAGTCTACAAGAAAACATCAACCAGGAAGGTATTCT	A	C32833225A	SLC7A9	NM_014270.5(SLC7A9):c.1224+4167_1324del	coding	Pathogenic
19	32833284	CAG	C	G32833288T	SLC7A9	NM_014270.5(SLC7A9):c.1262_1263del:p.Ser421fs	coding	Pathogenic
19	32833322	AC	A	C32833324T	SLC7A9	NC_000019.9:g.33324229del	coding	Pathogenic
19	32842597	T	TTTTTGTTTTG	G32842631T	SLC7A9	NM_014270.5(SLC7A9):c.1075-310CAAAA[8]	noncoding	Benign
19	32842597	T	TTTTTGTTTTGTTTTG	G32842631T	SLC7A9	NM_014270.5(SLC7A9):c.1075-310CAAAA[9]	noncoding	Benign
19	32842597	T	TTTTTGTTTTGTTTTGTTTTG	G32842631T	SLC7A9	NM_014270.5(SLC7A9):c.1075-310CAAAA[10]	noncoding	Benign
19	32858459	T	TCC	G32858463C	SLC7A9	NM_014270.5(SLC7A9):c.956_957dup:p.Thr320fs	coding	Pathogenic/Likely_pathogenic
19	32858768	C	CTATATTTATTTA	T32858770A	SLC7A9	NM_014270.5(SLC7A9):c.874-226_874-225insATAAATAAATAT	noncoding	Benign
19	32858768	C	CTTTATTTATTTA	C32858804A	SLC7A9	NM_014270.5(SLC7A9):c.874-257TAAA[11]	noncoding	Benign
19	32858768	C	CTTTATTTATTTATTTA	C32858804A	SLC7A9	NM_014270.5(SLC7A9):c.874-257TAAA[12]	noncoding	Benign
19	32860624	TC	T	C32860625T	SLC7A9	NM_014270.5(SLC7A9):c.730del:p.Glu244fs	coding	Pathogenic
19	32862563	G	GT	G32862565T	SLC7A9	NM_014270.5(SLC7A9):c.501dup:p.Leu168fs	coding	Pathogenic
19	32864238	G	GA	G32864241A	SLC7A9	NM_014270.5(SLC7A9):c.335dup:p.Ser113fs	coding	Pathogenic
19	32868230	CAAA	C	A32868248G	SLC7A9	NM_014270.5(SLC7A9):c.87+215_87+217del	noncoding	Benign
19	32868230	CAA	C	A32868249G	SLC7A9	NM_014270.5(SLC7A9):c.87+216_87+217del	noncoding	Benign
19	32868230	C	CA	G32868251A	SLC7A9	NM_014270.5(SLC7A9):c.87+198dup	noncoding	Benign
19	33208758	T	TA	C33208762A	SLC7A10	NM_019849.3(SLC7A10):c.*132dup	noncoding	Benign
19	33226090	T	TC	T33226094C	SLC7A10	Single_allele	noncoding	Benign
19	33301376	C	CTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCT	C33301509A	CEBPA	NM_004364.5(CEBPA):c.911_1038dup:p.Glu347delinsSerSerAlaThrTrpArgArgSerArgArgCysTrpSerTer	coding	Pathogenic
19	33301481	G	GGAA	C33301482G	CEBPA	NM_004364.5(CEBPA):c.933_934insTTC:p.Gln311_Gln312insPhe	coding	Pathogenic
19	33301978	A	AG	C33301983G	CEBPA	NM_004364.5(CEBPA):c.436dup:p.Leu146fs	coding	Pathogenic
19	33302094	GT	G	T33302095C	CEBPA	NM_004364.5(CEBPA):c.320del:p.Asp107fs	coding	Pathogenic
19	33302122	GT	G	T33302123G	CEBPA	NM_004364.5(CEBPA):c.292del:p.Thr98fs	coding	Pathogenic
19	33302153	G	GCT	G33302156C	CEBPA	NM_004364.5(CEBPA):c.260_261dup:p.Gln88fs	coding	Pathogenic
19	33302167	TG	T	G33302169A	CEBPA	NM_004364.5(CEBPA):c.247del:p.Gln83fs	coding	Pathogenic/Likely_pathogenic
19	33302205	CG	C	G33302208T	CEBPA	NM_004364.5(CEBPA):c.209del:p.Pro70fs	coding	Pathogenic
19	33302224	ATGTCG	A	T33302225A	CEBPA	NM_004364.5(CEBPA):c.186_190del:p.Asp63fs	coding	Pathogenic
19	33302230	ATGGACGTCTCG	A	G33302233C	CEBPA	NM_004364.5(CEBPA):c.174_184del:p.Glu59fs	coding	Pathogenic
19	33302231	TGGAC	T	G33302233T	CEBPA	NM_004364.5(CEBPA):c.180_183del:p.Ile62fs	coding	Pathogenic
19	33302268	CG	C	G33302272C	CEBPA	NM_004364.5(CEBPA):c.146del:p.Pro49fs	coding	Pathogenic
19	33302277	AG	A	G33302279T	CEBPA	NM_004364.5(CEBPA):c.137del:p.Pro46fs	coding	Pathogenic
19	33302289	AG	A	G33302291C	CEBPA	NM_004364.5(CEBPA):c.125del:p.Pro42fs	coding	Pathogenic
19	33302345	GC	G	C33302346G	CEBPA	NM_004364.5(CEBPA):c.69del:p.His24fs	coding	Pathogenic
19	33302348	GGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGC	AGGGTTAGGAA	G33302348A	CEBPA	NM_004364.5(CEBPA):c.33_67delinsTTCCTAACCCT:p.Arg12_Pro23delinsSerTer	coding	Pathogenic
19	33302354	T	TC	T33302356C	CEBPA	NM_004364.5(CEBPA):c.60dup:p.Ser21fs	coding	Pathogenic
19	33401862	CG	C	G33401863A	PEPD	NM_000285.4(PEPD):c.825del:p.Phe275fs	coding	Pathogenic/Likely_pathogenic
19	33477908	GA	G	A33477912G	PEPD	NM_000285.4(PEPD):c.548+137del	noncoding	Benign
19	34366810	CG	C	G34366813A	GPI	NM_000175.5(GPI):c.244del:p.Glu82fs	coding	Pathogenic
19	34381450	G	GT	G34381462T	GPI	NM_000175.5(GPI):c.751-5dup	noncoding	Benign
19	34428476	T	TGGCCGGG	T34428491G	UBA2	NM_005499.3(UBA2):c.52_58dup:p.Val20fs	coding	Pathogenic
19	34433378	GT	G	T34433381A	UBA2	NM_005499.3(UBA2):c.327del:p.Phe109fs	coding	Pathogenic
19	34443872	CA	C	A34443874G	UBA2	NM_005499.3(UBA2):c.612del:p.Glu205fs	coding	Pathogenic
19	34458845	G	GT	A34458848T	UBA2	NM_005499.3(UBA2):c.1324dup:p.Tyr442fs	coding	Pathogenic
19	34458898	G	GT	G34458900T	UBA2	NM_005499.3(UBA2):c.1376dup:p.Thr460fs	coding	Pathogenic
19	35030437	G	GGCC	T35030467C	SCN1B	Single_allele	noncoding	Benign
19	35039625	TC	T	C35039630A	SCN1B	NM_001037.5(SCN1B):c.591-5del	noncoding	Benign
19	35039847	GCA	G	A35039849C	SCN1B	NM_001037.5(SCN1B):c.*58_*59del	noncoding	Benign
19	35039847	GC	G	C35039848A	SCN1B	NM_001037.5(SCN1B):c.*57del	noncoding	Benign
19	35284842	CTGGA	C	A35284846T	HAMP	NM_021175.4(HAMP):c.148_150+1del	coding	Pathogenic
19	35302912	CT	C	T35302934G	MAG	NM_002361.4(MAG):c.1231+226del	noncoding	Benign
19	35302912	CTT	C	T35302933G	MAG	NM_002361.4(MAG):c.1231+225_1231+226del	noncoding	Benign
19	35545908	GGAAATGCGTCCAGGCTGGA	G	A35545910T	TMEM147	NM_032635.4(TMEM147):c.100_118del:p.Lys34fs	coding	Pathogenic
19	35546539	CCACTTTCTTT	C	A35546541C	TMEM147	NM_032635.4(TMEM147):c.163_172del:p.Thr55fs	coding	Pathogenic
19	35546541	ACTTT	A	T35546547C	TMEM147	NM_032635.4(TMEM147):c.169_172del:p.Phe57fs	coding	Pathogenic
19	35547017	C	CA	C35547020A	TMEM147	NM_032635.4(TMEM147):c.419dup:p.Asn140fs	coding	Pathogenic
19	35547228	C	CCTTT	G35547233C	TMEM147	NM_032635.4(TMEM147):c.540_543dup:p.Val182fs	coding	Pathogenic
19	35717791	CG	C	G35717796T	KMT2B	Single_allele	noncoding	Benign
19	35718020	TGGCGGCGGCGGCG	T	G35718030A	KMT2B	NM_014727.3(KMT2B):c.12_24del:p.Ala5fs	coding	Pathogenic
19	35720029	GC	G	C35720030A	KMT2B	NM_014727.3(KMT2B):c.683del:p.Ala228fs	coding	Pathogenic
19	35720452	AAAG	A	G35720464A	KMT2B	NM_014727.3(KMT2B):c.1108GAA[3]:p.Glu373del	coding	Benign
19	35720472	CAAG	C	A35720473G	KMT2B	NM_014727.3(KMT2B):c.1126_1128del:p.Lys376del	coding	Benign
19	35720996	A	AC	A35721004C	KMT2B	NM_014727.3(KMT2B):c.1656dup:p.Lys553fs	coding	Pathogenic
19	35720996	AC	A	C35721003A	KMT2B	NM_014727.3(KMT2B):c.1656del:p.Lys553fs	coding	Pathogenic
19	35722003	CT	C	T35722019A	KMT2B	NM_014727.3(KMT2B):c.2457+215del	noncoding	Benign
19	35723730	A	AG	C35723733G	KMT2B	NM_014727.2(KMT2B):c.3059dup	noncoding	Benign
19	35724687	C	CT	G35724689T	KMT2B	NM_014727.3(KMT2B):c.3386dup:p.Gln1130fs	coding	Pathogenic
19	35724878	G	GGGGTCTGGATCA	G35724899A	KMT2B	NM_014727.3(KMT2B):c.3430-102_3430-91dup	noncoding	Benign
19	35725212	T	TC	A35725218C	KMT2B	NM_014727.3(KMT2B):c.3529-3dup	noncoding	Benign/Likely_benign
19	35725282	A	AG	C35725288G	KMT2B	NM_014727.3(KMT2B):c.3596dup:p.Met1202fs	coding	Pathogenic
19	35726983	CAAAAA	C	A35727000G	KMT2B	NM_014727.3(KMT2B):c.4004-156_4004-152del	noncoding	Benign
19	35726983	CAA	C	A35727003G	KMT2B	NM_014727.3(KMT2B):c.4004-153_4004-152del	noncoding	Benign
19	35726983	CA	C	A35727004G	KMT2B	NM_014727.3(KMT2B):c.4004-152del	noncoding	Benign
19	35728500	A	AG	T35728505G	KMT2B	NM_014727.3(KMT2B):c.4572-270dup	noncoding	Benign
19	35730565	CTCTG	C	T35730570A	KMT2B	NM_014727.3(KMT2B):c.5230_5233del:p.Ser1744fs	coding	Pathogenic
19	35730634	TC	T	C35730636A	KMT2B	NM_014727.3(KMT2B):c.5276+20del	noncoding	Benign
19	35732036	G	GC	G35732043C	KMT2B	NM_014727.3(KMT2B):c.5572dup:p.Arg1858fs	coding	Pathogenic
19	35732285	T	TTCCCGTCG	A35732298G	KMT2B	NM_014727.3(KMT2B):c.5741_5748dup:p.Ser1917fs	coding	Pathogenic
19	35732756	CAGTG	C	T35732759G	KMT2B	NM_014727.3(KMT2B):c.6210_6213del:p.Ser2070fs	coding	Pathogenic
19	35732956	T	TC	G35732963C	KMT2B	NM_014727.3(KMT2B):c.6413dup:p.Ala2139fs	coding	Pathogenic
19	35733257	AG	A	G35733259C	KMT2B	NM_014727.3(KMT2B):c.6710del:p.Gly2237fs	coding	Pathogenic
19	35733438	G	GC	G35733445C	KMT2B	NM_014727.3(KMT2B):c.6895dup:p.Arg2299fs	coding	Pathogenic
19	35737005	A	AG	C35737011G	KMT2B	NM_014727.3(KMT2B):c.7372+24dup	noncoding	Benign
19	35737697	GC	G	C35737699A	KMT2B	NM_014727.3(KMT2B):c.7614del:p.Thr2539fs	coding	Pathogenic
19	35831670	GC	G	C35831672A	NPHS1	NM_004646.4(NPHS1):c.3258del:p.Trp1086fs	coding	Pathogenic
19	35831715	GC	G	C35831721A	NPHS1	NM_004646.4(NPHS1):c.3213del:p.Leu1072fs	coding	Pathogenic
19	35835738	GTTCTC	G	T35835739C	NPHS1	NM_004646.4(NPHS1):c.3128_3132del:p.Gly1043fs	coding	Pathogenic
19	35835763	TG	T	G35835769T	NPHS1	NM_004646.4(NPHS1):c.3110-3del	noncoding	Benign
19	35839355	G	GGT	G35839359T	NPHS1	NM_004646.4(NPHS1):c.2989_2990dup:p.Phe998fs	coding	Pathogenic
19	35839517	AG	A	G35839519C	NPHS1	NM_004646.4(NPHS1):c.2905del:p.Leu969fs	coding	Pathogenic/Likely_pathogenic
19	35842497	TC	T	C35842501T	NPHS1	NM_004646.4(NPHS1):c.2387del:p.Gly796fs	coding	Pathogenic/Likely_pathogenic
19	35843516	CG	C	G35843517A	NPHS1	NM_004646.4(NPHS1):c.2289del:p.Asp764fs	coding	Pathogenic
19	35844141	TCA	T	C35844142G	NPHS1	NM_004646.4(NPHS1):c.2172_2173del:p.Glu725fs	coding	Pathogenic
19	35844151	GGCAGTGCA	G	A35844154T	NPHS1	NM_004646.4(NPHS1):c.2156_2163del:p.Leu719fs	coding	Pathogenic/Likely_pathogenic
19	35844220	GGATGC	G	G35844226C	NPHS1	NM_004646.4(NPHS1):c.2090_2094del:p.Arg697fs	coding	Pathogenic
19	35844365	GGC	G	C35844367G	NPHS1	NM_004646.4(NPHS1):c.2023_2024del:p.Ala675fs	coding	Pathogenic/Likely_pathogenic
19	35844418	CG	C	G35844420T	NPHS1	NM_004646.4(NPHS1):c.1971del:p.Ala658fs	coding	Pathogenic/Likely_pathogenic
19	35844489	ATTG	A	G35844495A	NPHS1	NM_004646.4(NPHS1):c.1931-33_1931-31del	noncoding	Benign
19	35845389	A	AGGAGCTCACGGTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGCTCCCTAAGCCACCGACCCCAGCCCGCGGCGCCGTCGACCCTTCTGGGGCCTCCGGCGCCGCGACCTCCTCTC	G35845405T	NPHS1	NM_004646.4(NPHS1):c.1908_1909insGAGAGGAGGTCGCGGCGCCGGAGGCCCCAGAAGGGTCGACGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACCGTGAGCTCC:p.Phe637delinsGluArgArgSerArgArgArgArgProGlnLysGlyArgArgArgArgGlyLeuGlySerValAlaTer	coding	Pathogenic
19	35845525	GGCCAC	G	A35845529C	NPHS1	NM_004646.4(NPHS1):c.1768_1772del:p.Val590fs	coding	Pathogenic
19	35845672	TC	T	C35845676T	NPHS1	NM_004646.4(NPHS1):c.1753del:p.Glu585fs	coding	Pathogenic
19	35845680	CT	C	T35845682G	NPHS1	NM_004646.4(NPHS1):c.1745del:p.Lys582fs	coding	Pathogenic/Likely_pathogenic
19	35845807	CG	C	G35845811T	NPHS1	NM_004646.4(NPHS1):c.1628-10del	noncoding	Benign
19	35849118	GC	G	C35849122A	NPHS1	NM_004646.4(NPHS1):c.869del:p.Gly290fs	coding	Pathogenic
19	35849259	AG	A	G35849262A	NPHS1	NM_004646.4(NPHS1):c.816del:p.Pro272_Leu273insTer	coding	Pathogenic
19	35849346	CAG	C	A35849347G	NPHS1	NM_004646.4(NPHS1):c.728_729del:p.Pro243fs	coding	Pathogenic/Likely_pathogenic
19	35849590	C	CA	G35849592A	NPHS1	NM_004646.4(NPHS1):c.671dup:p.Glu225fs	coding	Pathogenic
19	35849612	CA	C	A35849613G	NPHS1	NM_004646.4(NPHS1):c.649del:p.Cys217fs	coding	Pathogenic
19	35849640	TC	T	C35849642G	NPHS1	NM_004646.4(NPHS1):c.621del:p.Ser208fs	coding	Pathogenic
19	35849642	CG	C	G35849646T	NPHS1	NM_004646.4(NPHS1):c.619del:p.Arg207fs	coding	Pathogenic/Likely_pathogenic
19	35850970	TG	T	G35850972T	NPHS1	NM_004646.4(NPHS1):c.516del:p.Ile173fs	coding	Pathogenic
19	35851027	GC	G	C35851030A	NPHS1	NM_004646.4(NPHS1):c.459del:p.Gln154fs	coding	Pathogenic
19	35851360	GC	G	C35851362T	NPHS1	NM_004646.4(NPHS1):c.298del:p.Ala100fs	coding	Pathogenic
19	35851640	GA	G	A35851642C	NPHS1	NM_004646.4(NPHS1):c.90del:p.Arg32fs	coding	Pathogenic
19	35851792	G	GCC	A35851797C	NPHS1	NM_004646.4(NPHS1):c.44_45dup:p.Leu16fs	coding	Pathogenic
19	35852097	CT	C	T35852111A	NPHS1	NM_004646.4(NPHS1):c.-261del	noncoding	Benign
19	35852097	CTT	C	T35852110A	NPHS1	NM_004646.4(NPHS1):c.-262_-261del	noncoding	Benign
19	35852304	GTC	G	T35852325A	NPHS1	NM_004646.4(NPHS1):c.-489GA[10]	noncoding	Benign
19	35904357	A	AC	A35904363C	TYROBP	NM_014266.4(HCST):c.*202dup	noncoding	Benign
19	36005223	C	CT	A36005237T	SYNE4	NM_001039876.3(SYNE4):c.972+97dup	noncoding	Benign
19	36006091	AAAGT	A	T36006095A	SYNE4	NM_001039876.3(SYNE4):c.867+328_867+331del	noncoding	Benign
19	36058799	T	TTGGC	A36058804T	WDR62	NM_001083961.2(WDR62):c.198_201dup:p.Ile68fs	coding	Pathogenic
19	36058850	G	GC	A36058853C	WDR62	NM_001083961.2(WDR62):c.250dup:p.His84fs	coding	Pathogenic
19	36067384	GTC	TT	G36067384T	WDR62	NM_001083961.2(WDR62):c.640_642delinsTT:p.Val214fs	coding	Pathogenic
19	36073536	G	GCC	A36073547C	WDR62	NM_001083961.2(WDR62):c.1233+14_1233+15dup	noncoding	Benign
19	36081377	G	GTCATTTTC	A36081379C	WDR62	NM_001083961.2(WDR62):c.1234-55_1234-54insCATTTTCT	noncoding	Benign
19	36084706	C	CT	G36084708T	WDR62	NM_001083961.2(WDR62):c.1605dup:p.Glu536Ter	coding	Pathogenic
19	36090442	CAG	C	A36090445T	WDR62	NM_001083961.1(WDR62):c.1959_1960del	noncoding	Pathogenic
19	36094090	CAG	C	A36094093G	WDR62	NM_001083961.2(WDR62):c.2396_2397del:p.Glu799fs	coding	Pathogenic/Likely_pathogenic
19	36099221	CAAAAAAAAAAAA	C	A36099233C	WDR62	NM_001083961.2(WDR62):c.2521-166_2521-155del	noncoding	Benign
19	36099221	CA	C	A36099244C	WDR62	NM_001083961.2(WDR62):c.2521-155del	noncoding	Benign
19	36099221	C	CA	C36099245A	WDR62	NM_001083961.2(WDR62):c.2521-155dup	noncoding	Benign
19	36100866	GGACA	G	A36100872G	WDR62	NM_001083961.2(WDR62):c.2864_2867del:p.Asp955fs	coding	Pathogenic
19	36102993	GTCTCCAGAGGTCAAGCTCA	G	C36102995G	WDR62	NM_001083961.2(WDR62):c.3383_3401del:p.Ser1128fs	coding	Pathogenic
19	36103160	TCG	T	G36103162T	WDR62	NM_001083961.2(WDR62):c.3469_3470del:p.Ala1157fs	coding	Pathogenic
19	37884828	C	CA	G37884843A	WDR87	NM_001291088.2(WDR87):c.*103dup	noncoding	Benign
19	37886743	CCTT	C	T37886745C	WDR87	NM_001291088.2(WDR87):c.6925_6927del:p.Lys2309del	coding	Benign/Likely_benign
19	37886746	TCCTTTCCTCCTCCTCCTC	T	C37886774T	WDR87	NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[1]:p.2285EEEEER[3]	coding	Benign/Likely_benign
19	37886746	T	TCCTTTCCTCCTCCTCCTC	T37886792C	WDR87	NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[3]:p.2285EEEEER[5]	coding	Benign
19	37889509	GTTC	G	T37889516C	WDR87	NM_001291088.2(WDR87):c.4153GAA[2]:p.Glu1387del	coding	Benign
19	37890403	T	TA	G37890415A	WDR87	NM_001291088.2(WDR87):c.3395-138dup	noncoding	Benign
19	37890413	A	AC	A37890414C	WDR87	NM_001291088.2(WDR87):c.3395-138_3395-137insG	noncoding	Benign
19	37894973	TGGA	T	G37894978C	WDR87	NM_001291088.2(WDR87):c.724TCC[1]:p.Ser243del	coding	Benign
19	37896438	C	CA	C37896440A	WDR87	NM_001291088.2(WDR87):c.76-131dup	noncoding	Benign
19	38080969	CA	C	A38080984T	SIPA1L3	NM_015073.3(SIPA1L3):c.-310-272del	noncoding	Benign
19	38106930	AG	A	G38106931T	SIPA1L3	NM_015073.3(SIPA1L3):c.2133+291del	noncoding	Benign
19	38142664	A	AC	G38142670C	SIPA1L3	NM_015073.3(SIPA1L3):c.3492dup:p.Gly1165fs	coding	Pathogenic
19	38182486	GT	G	T38182494A	SIPA1L3	NM_015073.3(SIPA1L3):c.4209-25del	noncoding	Benign
19	38193788	TG	T	G38193791C	SIPA1L3	NM_015073.3(SIPA1L3):c.4840+11del	noncoding	Benign
19	38309265	C	CATGT	C38309266A	YIF1B	NM_001039672.3(YIF1B):c.360_361insACAT:p.Gly121fs	coding	Pathogenic
19	38385990	GC	G	C38385992A	GGN	NM_152657.4(GGN):c.1271del:p.Gly424fs	coding	Pathogenic
19	38386824	CGGCGGCGGCTTCAGCGGGCGGA	C	G38386828T	GGN	NM_152657.4(GGN):c.416_437del:p.Leu139fs	coding	Pathogenic
19	38444710	T	TC	A38444717C	RYR1	NM_000540.3(RYR1):c.631+39dup	noncoding	Benign/Likely_benign
19	38448637	CT	C	T38448638G	RYR1	NM_000540.3(RYR1):c.958-11del	noncoding	Benign/Likely_benign
19	38451751	TC	T	C38451755A	RYR1	NM_000540.3(RYR1):c.1123-9del	noncoding	Benign
19	38460434	A	ATGCTCCATGCCATGAGGCTG	C38460461A	RYR1	NM_000540.3(RYR1):c.2427_2446dup:p.Pro816fs	coding	Pathogenic
19	38467615	G	GAGAC	T38467616A	RYR1	NM_000540.3(RYR1):c.3184_3185insAGAC:p.Val1062fs	coding	Pathogenic
19	38468044	TCCATCATCCATC	T	C38468046A	RYR1	NM_000540.3(RYR1):c.3381+234_3381+245del	noncoding	Benign
19	38468045	CCAT	C	A38468050C	RYR1	NM_000540.3(RYR1):c.3381+238_3381+240del	noncoding	Benign
19	38468048	TCATCCATCCATCCATCCATC	T	T38468075A	RYR1	NM_000540.3(RYR1):c.3381+237CATC[6]	noncoding	Benign
19	38468048	T	TC	A38468050C	RYR1	NM_000540.3(RYR1):c.3381+237dup	noncoding	Benign
19	38468051	TC	T	C38468053A	RYR1	NM_000540.3(RYR1):c.3381+241del	noncoding	Benign
19	38468055	TC	T	C38468057A	RYR1	NM_000540.3(RYR1):c.3381+245del	noncoding	Benign
19	38468095	ACCATCCAT	A	T38468099G	RYR1	NM_000540.3(RYR1):c.3381+287_3381+294del	noncoding	Benign
19	38469007	CT	C	T38469008G	RYR1	NM_000540.3(RYR1):c.3424del:p.Trp1142fs	coding	Pathogenic
19	38473556	G	GC	G38473563C	RYR1	NM_000540.3(RYR1):c.3951dup:p.Ala1318fs	coding	Pathogenic
19	38473573	A	AGGCCCGGGCGGCGGAACCC	A38473594G	RYR1	NM_000540.3(RYR1):c.3964_3982dup:p.Asp1328fs	coding	Pathogenic/Likely_pathogenic
19	38473694	GC	AT	G38473694A	RYR1	NM_000540.3(RYR1):c.4083_4084delinsAT:p.Gln1362Ter	coding	Pathogenic
19	38475331	GC	G	C38475333A	RYR1	NM_000540.3(RYR1):c.4176del:p.Lys1393fs	coding	Pathogenic
19	38478102	T	TC	T38478105C	RYR1	NM_000540.3(RYR1):c.4454+234dup	noncoding	Benign
19	38483079	A	AG	A38483081G	RYR1	NM_000540.3(RYR1):c.4674dup:p.Asn1559fs	coding	Pathogenic
19	38483455	T	TGGGCC	T38483462G	RYR1	NM_000540.3(RYR1):c.4875_4879dup:p.Val1627fs	coding	Pathogenic
19	38486138	AC	A	C38486142G	RYR1	NM_000540.3(RYR1):c.5487del:p.Val1830fs	coding	Pathogenic
19	38489293	TGAG	T	G38489300A	RYR1	NM_000540.3(RYR1):c.5665GAG[2]:p.Glu1891del	coding	Benign/Likely_benign
19	38492360	CA	C	A38492377G	RYR1	NM_000540.3(RYR1):c.6128-113del	noncoding	Benign
19	38492360	C	CAA	G38492378A	RYR1	NM_000540.3(RYR1):c.6128-114_6128-113dup	noncoding	Benign
19	38492360	C	CA	G38492378A	RYR1	NM_000540.3(RYR1):c.6128-113dup	noncoding	Benign
19	38496872	CCACGCCCCTGGACGTGGCTGCTGCCT	C	A38496874C	RYR1	NM_000540.3(RYR1):c.6811_6836del:p.Thr2271fs	coding	Pathogenic
19	38499018	CGCAGG	C	G38499038A	RYR1	NM_000540.3(RYR1):c.6892-89GCAGG[3]	noncoding	Benign
19	38499840	TC	T	C38499842T	RYR1	NM_000540.3(RYR1):c.7214+21del	noncoding	Benign
19	38502634	CTA	C	A38502636G	RYR1	NM_000540.3(RYR1):c.7744_7745del:p.Met2582fs	coding	Pathogenic
19	38502663	C	CG	T38502668G	RYR1	NM_000540.3(RYR1):c.7775dup:p.Arg2593fs	coding	Pathogenic
19	38502751	TGGGGCAGGGGCAGGGGCA	T	C38502792G	RYR1	NM_000540.3(RYR1):c.7835+25GGGGCA[6]	noncoding	Benign
19	38502751	TGGGGCAGGGGCA	T	C38502798G	RYR1	NM_000540.3(RYR1):c.7835+25GGGGCA[7]	noncoding	Benign
19	38502751	TGGGGCA	T	C38502804G	RYR1	NM_000540.3(RYR1):c.7835+25GGGGCA[8]	noncoding	Benign
19	38502751	T	TGGGGCA	G38502810C	RYR1	NM_000540.3(RYR1):c.7835+25GGGGCA[10]	noncoding	Benign
19	38502778	GGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	G	G38502795C	RYR1	NM_000540.3(RYR1):c.7835+68_7836-50del	noncoding	Benign
19	38502784	GGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	G	G38502801C	RYR1	NM_000540.3(RYR1):c.7835+74_7836-50del	noncoding	Benign
19	38502790	GGCAGGGGCAGGGGCAGGGGGAGGA	G	G38502807C	RYR1	NM_000540.3(RYR1):c.7836-73_7836-50del	noncoding	Benign
19	38504107	ACCT	A	C38504111T	RYR1	NM_000540.3(RYR1):c.7927-109_7927-107del	noncoding	Benign
19	38506724	T	TTCA	T38506727A	RYR1	NM_000540.3(RYR1):c.8693-103_8693-102insATC	noncoding	Benign
19	38507155	T	TAAG	C38507159A	RYR1	NM_000540.3(RYR1):c.8816+204_8816+206dup	noncoding	Benign
19	38507737	TC	T	C38507738G	RYR1	NM_000540.3(RYR1):c.8843del:p.Ser2948fs	coding	Pathogenic
19	38507924	GTCCTCCCCTTA	G	C38507927T	RYR1	NM_000540.3(RYR1):c.8932+100_8932+110del	noncoding	Benign
19	38517571	G	GC	A38517579C	RYR1	NM_000540.3(RYR1):c.9905dup:p.Pro3303fs	coding	Pathogenic
19	38523043	G	GGAGCC	A38523051G	RYR1	NM_000540.3(RYR1):c.10278_10282dup:p.Asn3428fs	coding	Pathogenic
19	38524186	C	CA	G38524204A	RYR1	NM_000540.3(RYR1):c.10455+274dup	noncoding	Benign
19	38525494	T	TA	C38525496A	RYR1	NM_000540.3(RYR1):c.10619dup:p.Tyr3540Ter	coding	Pathogenic
19	38527799	A	AG	T38527804G	RYR1	NM_000540.3(RYR1):c.10824+19dup	noncoding	Benign
19	38527942	C	CA	G38527943A	RYR1	NM_000540.3(RYR1):c.10824+158_10824+159insA	noncoding	Benign
19	38532505	T	TTACC	G38532511A	RYR1	NM_000540.3(RYR1):c.11159_11162dup:p.Tyr3722fs	coding	Pathogenic
19	38533029	GA	G	A38533030T	RYR1	NM_000540.3(RYR1):c.11259+294del	noncoding	Benign
19	38536281	GC	G	C38536290G	RYR1	NM_000540.3(RYR1):c.11590+220del	noncoding	Benign
19	38536633	CTGTG	C	G38536637C	RYR1	NM_000540.3(RYR1):c.11591-113_11591-110del	noncoding	Benign
19	38543944	GC	G	C38543948T	RYR1	NM_000540.3(RYR1):c.12012+73del	noncoding	Benign
19	38546493	G	GAC	T38546497C	RYR1	NM_000540.3(RYR1):c.12063_12064dup:p.Met4022fs	coding	Pathogenic/Likely_pathogenic
19	38561040	T	TA	G38561058A	RYR1	NM_000540.3(RYR1):c.12283-56dup	noncoding	Benign
19	38561353	C	CCCTG	A38561357G	RYR1	NM_000540.3(RYR1):c.12526_12527insGCCT:p.Tyr4176fs	coding	Pathogenic
19	38565092	CCGAGGGCGAGCCGGAGACCGACGAGGACGAG	C	C38565093G	RYR1	NM_000540.3(RYR1):c.12759_12789del:p.Glu4254fs	coding	Pathogenic
19	38565101	AGCCGGAGACC	A	C38565103A	RYR1	NM_000540.3(RYR1):c.12769_12778del:p.Pro4257fs	coding	Pathogenic
19	38565343	TG	T	G38565346C	RYR1	NM_000540.3(RYR1):c.13012del:p.Ala4338fs	coding	Pathogenic
19	38565747	TC	T	C38565750A	RYR1	NM_000540.3(RYR1):c.13416del:p.Ile4473fs	coding	Pathogenic
19	38565785	CG	C	G38565789T	RYR1	NM_000540.3(RYR1):c.13437+18del	noncoding	Benign
19	38567782	T	TGGGGAGA	A38567790G	RYR1	NM_000540.3(RYR1):c.13525_13531dup:p.Lys4511fs	coding	Pathogenic/Likely_pathogenic
19	38572050	T	TG	A38572053G	RYR1	NM_000540.3(RYR1):c.13780dup:p.Glu4594fs	coding	Pathogenic
19	38577793	C	CA	T38577805A	RYR1	NM_000540.3(RYR1):c.14173-114dup	noncoding	Benign
19	38577930	CAT	C	A38577931G	RYR1	NM_000540.3(RYR1):c.14186_14187del:p.His4729fs	coding	Pathogenic
19	38580106	C	CT	G38580108T	RYR1	NM_000540.3(RYR1):c.14490dup:p.Val4831fs	coding	Pathogenic
19	38583477	CA	C	A38583492C	RYR1	NM_000540.3(RYR1):c.14647-1451del	noncoding	Benign
19	38583493	CAT	C	A38583496G	RYR1	NM_000540.3(RYR1):c.14647-1447_14647-1446del	noncoding	Benign/Likely_benign
19	38704662	AGGAG	A	G38704663A	ACTN4	NM_004924.6(ACTN4):c.398-271_398-268del	noncoding	Benign
19	38704914	G	GC	T38704920C	ACTN4	NM_004924.6(ACTN4):c.398-15dup	noncoding	Benign
19	38716858	CAA	C	A38716859G	ACTN4	NM_004924.6(ACTN4):c.913-227_913-226del	noncoding	Benign
19	38731075	CCCATGCCCCA	C	C38731083G	CAPN12	NM_144691.4(CAPN12):c.2074+22_2074+31del	noncoding	Benign
19	38736886	CCT	C	C38736889G	CAPN12	NM_144691.4(CAPN12):c.1362+268_1362+269del	noncoding	Benign
19	38736923	A	ACTCCCCTC	C38736933T	CAPN12	NM_144691.4(CAPN12):c.1362+225_1362+232dup	noncoding	Benign
19	38736964	ACTCCTCCC	A	T38736974G	CAPN12	NM_144691.4(CAPN12):c.1362+184_1362+191del	noncoding	Benign
19	38737011	TC	T	C38737016T	CAPN12	NM_144691.4(CAPN12):c.1362+144del	noncoding	Benign
19	38738228	G	GCA	G38738231C	CAPN12	NM_144691.4(CAPN12):c.965+43_965+44dup	noncoding	Benign
19	38741586	G	GA	C38741601A	CAPN12	NM_144691.4(CAPN12):c.560+177dup	noncoding	Benign
19	38742328	C	CA	G38742344A	CAPN12	NM_144691.4(CAPN12):c.426+67dup	noncoding	Benign
19	38742850	C	CAAAAAAAAAAA	G38742873A	CAPN12	NM_144691.4(CAPN12):c.307+161_307+171dup	noncoding	Benign
19	38742850	C	CAA	G38742873A	CAPN12	NM_144691.4(CAPN12):c.307+161_307+162dup	noncoding	Benign
19	38742850	C	CA	G38742873A	CAPN12	NM_144691.4(CAPN12):c.307+161dup	noncoding	Benign
19	38743731	G	GCCCCCAGCCTTCCTCCCTCAGACCCAGGAGTCCAGGTC	A38743735C	CAPN12	NM_144691.4(CAPN12):c.237+197_237+198insGGGGACCTGGACTCCTGGGTCTGAGGGAGGAAGGCTGG	noncoding	Benign
19	38915624	G	GCCAGGCAGC	T38915640A	SARS2	NM_017827.4(SARS2):c.1530_1538dup:p.Leu511_Gly513dup	coding	Benign
19	38916585	A	AG	A38916590G	SARS2	NM_017827.4(SARS2):c.1161-275dup	noncoding	Benign
19	38922116	A	AT	C38922127T	SARS2	NM_017827.4(SARS2):c.393+112dup	noncoding	Benign
19	39390375	T	TAGA	G39390378A	PAF1	NM_019088.4(PAF1):c.48-87_48-86insCTT	noncoding	Benign
19	39487970	GTGTA	G	A39487982T	TIMM50	NM_001001563.5(TIMM50):c.697-90TGTA[2]	noncoding	Benign
19	39500420	TC	T	C39500432A	DLL3	NM_203486.3(DLL3):c.352-183del	noncoding	Benign
19	39500420	T	TC	A39500433C	DLL3	NM_203486.3(DLL3):c.352-183dup	noncoding	Benign
19	39500432	CA	C	A39500440G	DLL3	NM_203486.3(DLL3):c.352-175del	noncoding	Benign
19	39500628	TCATCATCGAAACC	T	C39500629T	DLL3	NM_203486.3(DLL3):c.366_378del:p.Ile123fs	coding	Pathogenic
19	39500853	A	AGTCT	G39500856C	DLL3	NM_203486.3(DLL3):c.409+183_409+184insCTGT	noncoding	Benign
19	39500897	C	CA	G39500900A	DLL3	NM_203486.3(DLL3):c.409+227dup	noncoding	Benign
19	39502927	CCG	C	G39502935T	DLL3	NM_203486.3(DLL3):c.530_531del:p.Arg177fs	coding	Pathogenic
19	39507284	C	CT	A39507285T	DLL3	NM_203486.3(DLL3):c.1339_1340insT:p.His447fs	coding	Pathogenic
19	40238253	T	TA	G40238256A	AKT2	NM_001626.6(AKT2):c.709-164dup	noncoding	Benign
19	40242704	G	GT	G40242706T	AKT2	NM_001626.6(AKT2):c.288-18dup	noncoding	Benign
19	40254838	GA	G	A40254850G	AKT2	NM_001626.6(AKT2):c.287+319del	noncoding	Benign
19	40255438	A	AGT	G40255454T	AKT2	NM_001626.6(AKT2):c.176-183AC[8]	noncoding	Benign
19	40394272	TTCCTCC	T	C40394290G	PRX	NM_181882.3(PRX):c.4059GGA[5]:p.Glu1360_Glu1361del	coding	Benign/Likely_benign
19	40395251	TCA	T	C40395252G	PRX	NM_181882.3(PRX):c.3099_3100del:p.Glu1034fs	coding	Pathogenic
19	40395535	CGA	C	A40395539T	PRX	NM_181882.3(PRX):c.2815_2816del:p.Ser939fs	coding	Pathogenic
19	40395749	TG	T	G40395750C	PRX	NM_181882.3(PRX):c.2602del:p.Gln868fs	coding	Pathogenic
19	40396777	CA	C	A40396778C	PRX	NM_181882.3(PRX):c.1574del:p.Val525fs	coding	Pathogenic
19	40396789	CTGTACCTCTG	C	T40396790G	PRX	NM_181882.3(PRX):c.1553_1562del:p.Pro518fs	coding	Pathogenic
19	40396793	ACCTCTGG	A	C40396794A	PRX	NM_181882.3(PRX):c.1552_1558del:p.Pro518fs	coding	Pathogenic
19	40397180	AG	A	G40397181T	PRX	NM_181882.3(PRX):c.1171del:p.Leu391fs	coding	Pathogenic
19	40397577	A	AGG	C40397583G	PRX	NM_181882.3(PRX):c.773_774dup:p.Ser259fs	coding	Pathogenic
19	40397709	T	TG	A40397716G	PRX	NM_181882.3(PRX):c.642dup:p.Arg215fs	coding	Pathogenic
19	40403587	T	TC	T40403590C	PRX	NM_181882.3(PRX):c.184+117dup	noncoding	Benign
19	40501890	GTC	G	C40501892T	SPTBN4	NM_020971.3(SPTBN4):c.785-29_785-28del	noncoding	Benign
19	40502452	G	GC	A40502454C	SPTBN4	NM_020971.3(SPTBN4):c.1149dup:p.Asn384fs	coding	Pathogenic
19	40502817	GC	G	C40502820T	SPTBN4	NM_020971.3(SPTBN4):c.1249del:p.Leu417fs	coding	Pathogenic
19	40503040	GA	G	A40503041T	SPTBN4	NM_020971.3(SPTBN4):c.1362+108del	noncoding	Benign
19	40504139	GC	G	C40504140G	SPTBN4	NM_020971.3(SPTBN4):c.1665+8del	noncoding	Benign
19	40519869	GGCGGACGCGCTGCTGGCGC	G	G40519872C	SPTBN4	NM_020971.3(SPTBN4):c.3375_3393del:p.Asp1126fs	coding	Pathogenic
19	40523810	A	AT	G40523822T	SPTBN4	NM_020971.3(SPTBN4):c.3857+182dup	noncoding	Benign
19	40550504	AT	A	T40550520G	SPTBN4	NM_020971.3(SPTBN4):c.4674+193del	noncoding	Benign
19	40550504	ATT	A	T40550519G	SPTBN4	NM_020971.3(SPTBN4):c.4674+192_4674+193del	noncoding	Benign
19	40555917	C	CA	G40555927A	SPTBN4	NM_020971.3(SPTBN4):c.5085-158dup	noncoding	Benign
19	40556996	A	ACC	A40557008C	SPTBN4	NM_020971.3(SPTBN4):c.5290-17_5290-16dup	noncoding	Benign
19	40556996	AC	A	C40557007A	SPTBN4	NM_020971.3(SPTBN4):c.5290-16del	noncoding	Benign
19	40565271	A	AAAAAG	G40565300A	SPTBN4	NM_020971.3(SPTBN4):c.5916-151AAAAG[6]	noncoding	Benign
19	40565271	AAAAAG	A	A40565295G	SPTBN4	NM_020971.3(SPTBN4):c.5916-151AAAAG[4]	noncoding	Benign
19	40566341	TCTGCGGCGCCTGACCACGGTCAGCTCC	T	T40566343C	SPTBN4	NM_020971.3(SPTBN4):c.6320_6336+10del	coding	Pathogenic
19	40599652	TC	T	C40599658T	LTBP4	NM_003573.2(LTBP4):c.230+102del	noncoding	Benign
19	40623174	C	CT	C40623189T	LTBP4	NM_001042545.2(LTBP4):c.3556+167dup	noncoding	Benign
19	40624239	A	ACTGT	C40624250G	LTBP4	NM_001042545.2(LTBP4):c.3832+158CTGT[3]	noncoding	Benign
19	40624291	A	AG	C40624295G	LTBP4	NM_001042545.2(LTBP4):c.3832+212dup	noncoding	Benign
19	40627005	G	GC	G40627013C	LTBP4	NM_001042545.2(LTBP4):c.4023dup:p.Ala1342fs	coding	Pathogenic
19	40629251	TCA	T	C40629256G	LTBP4	NM_001042545.2(LTBP4):c.4520-144CA[2]	noncoding	Benign
19	40692387	TG	T	G40692393A	COQ8B	NM_024876.4(COQ8B):c.1297-15del	noncoding	Benign
19	40695873	CTATTATT	C	A40695882C	COQ8B	NM_024876.4(COQ8B):c.1209+109_1209+115del	noncoding	Benign
19	40696237	CT	C	T40696245C	COQ8B	NM_024876.4(COQ8B):c.1144-184del	noncoding	Benign
19	40702325	GTAAT	G	T40702333G	COQ8B	NM_024876.4(COQ8B):c.893+271_893+274del	noncoding	Benign
19	40702487	AAG	A	A40702494T	COQ8B	NM_024876.4(COQ8B):c.893+105CT[3]	noncoding	Benign
19	40799342	T	TG	C40799348G	EGLN2	NM_080732.4(EGLN2):c.-235+85dup	noncoding	Benign
19	40799888	CTCTG	C	G40799892T	EGLN2	NM_080732.4(EGLN2):c.-234-447_-234-444del	noncoding	Benign
19	40799920	ACT	A	T40799924C	EGLN2	NM_080732.4(EGLN2):c.-234-415_-234-414del	noncoding	Benign
19	40800316	CT	C	T40800327C	EGLN2	NM_080732.4(EGLN2):c.-234-12del	noncoding	Benign
19	40991387	G	GGC	A40991388G	CYP2B6	NM_000767.5(CYP2B6):c.82_83insGC:p.Asp28fs	coding	Benign
19	40991389	CCG	C	G40991391C	CYP2B6	NM_000767.5(CYP2B6):c.86_87del:p.Arg29fs	coding	Benign
19	41239570	TTCACTCCCTTACTCGTGCCACACCC	T	T41239583C	AXL	NM_021913.5(AXL):c.1286-111_1286-87del	noncoding	Benign
19	41253726	AC	A	C41253738A	AXL	NM_021913.5(AXL):c.2036+30del	noncoding	Benign
19	41253726	ACC	A	C41253737A	AXL	NM_021913.5(AXL):c.2036+29_2036+30del	noncoding	Benign
19	41253726	ACCC	A	C41253736A	AXL	NM_021913.5(AXL):c.2036+28_2036+30del	noncoding	Benign
19	41256794	TA	T	A41256795C	AXL	NM_021913.5(AXL):c.2196+184del	noncoding	Benign
19	41342516	AT	A	T41342532G	TGFB1	NM_000660.7(TGFB1):c.635-270del	noncoding	Benign
19	41342516	ATT	A	T41342531G	TGFB1	NM_000660.7(TGFB1):c.635-271_635-270del	noncoding	Benign
19	41347987	CTGGGCGTGG	C	G41347991C	TGFB1	NM_000660.7(TGFB1):c.516+299_516+307del	noncoding	Benign
19	41348130	CA	C	A41348145G	TGFB1	NM_000660.7(TGFB1):c.516+164del	noncoding	Benign
19	41348575	T	TTTTA	A41348620T	TGFB1	NM_000660.7(TGFB1):c.356-164TAAA[12]	noncoding	Benign
19	41353805	C	CG	T41353813G	TGFB1	NM_000660.7(TGFB1):c.-762dup	noncoding	Benign
19	41363582	C	CA	G41363583A	B9D2	NM_030578.4(B9D2):c.-4-60_-4-59insT	noncoding	Benign
19	41386651	CCTCTGCAGCGATTCCCGGTAGAAACGGAAGACGTGTTGCGAAGCGGCCTGGGCCGCAGCCAGGCACTGCTGGAGCTGCGGGGGAGAGACTGGTCGGTGCTGGGGGCCGAGCCCTTCATGCACACACGACTTGGCTGACCCAGGAGGTTCTGCTGACCCCACCTGACTCCCTTAACCTCCCATCACTCCCCTGCCCCCAAGTGAGGCAAGTGGTAAGGGATTATTTCCCATTTCATGAACTGTTTCTTAGAGATCAGGAGAAATAAAAAGAGGGAGAAGGACTTCAGGATCAGATTCTGACAGCAACAGGACTCAGACCTATCAGGCATCCTCACACCTTGGAGGAGGCCCCAGCTGTGCAGAGCTATGGAACTGGAGAGTGCACAGAATTGGAGTGGTCTTGGGATTTTACAGCCACAGTCCCCTTCAGCCCAAATAATCTAAGAGCCATGGAATCAAGAGACTCCCAGTCTTCACTGCCATGTATTCCTAGATTCATGAGGTCCAGGTTGGACATGCTTTTGCAGACAGTCATGTCCAAGAGTTTCCAGGCTCTGCCCCTTAGCCTGAGACCTGGAATTCCCATGGCTCACCACTCTGAGCTGGGAGCTGGGGGACCATCACATGCCCTCTTCTGACTTCAAACTGAGCTCATCCTCTTTTTGCCTGTGTTATAAATTGGGCTTCCCTTAAACATTTCCGCAAAGGTTTCTGGGTCCACAAAGTTTGAAAACTCCCTTTTTACAAGAAGAAATTTAAGAGGCTCTCCTGAAGCCTCTCAGAATCCAGGGCAGAGTTGGGACAAGACCGTATGTCAGTGGGAAGGAAGGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCCCTCAGATAAAATCTCAGCCAGTCCTTT	C	C41386652G	EXOSC5	NM_020158.4(EXOSC5):c.526-72_689del	coding	Pathogenic
19	41397241	GC	G	C41397243G	EXOSC5	NM_020158.4(EXOSC5):c.87del:p.His30fs	coding	Pathogenic
19	41397666	AG	A	G41397667A	BCKDHA	Single_allele	noncoding	Benign
19	41397668	AT	A	T41397677C	BCKDHA	Single_allele	noncoding	Benign
19	41397903	CG	C	G41397905C	BCKDHA	NM_000709.4(BCKDHA):c.78del:p.Gln27fs	coding	Pathogenic
19	41410638	A	ACC	A41410646C	BCKDHA	NM_000709.4(BCKDHA):c.116_117dup:p.Arg40fs	coding	Pathogenic
19	41410988	CCT	C	C41410991A	BCKDHA	NM_000709.4(BCKDHA):c.357_358del:p.Leu119_Tyr120insTer	coding	Pathogenic
19	41414041	A	AC	A41414047C	BCKDHA	NM_000709.4(BCKDHA):c.376-3dup	noncoding	Benign
19	41422179	AC	A	C41422180G	BCKDHA	NM_000709.4(BCKDHA):c.663del:p.Ala220_Tyr221insTer	coding	Pathogenic
19	41422216	CTG	C	G41422218T	BCKDHA	NM_000709.4(BCKDHA):c.701_702del:p.Cys234fs	coding	Pathogenic
19	41422290	GC	AA	G41422290A	BCKDHA	NM_000709.4(BCKDHA):c.773_774delinsAA:p.Cys258Ter	coding	Pathogenic
19	41423003	GGCACCACA	G	C41423010G	BCKDHA	NM_000709.4(BCKDHA):c.1008_1015del:p.His336fs	coding	Pathogenic/Likely_pathogenic
19	41423178	GC	G	C41423182G	BCKDHA	NM_000709.4(BCKDHA):c.1167+13del	noncoding	Benign
19	41425549	A	AGGCCAGGGCCGG	T41425557G	B3GNT8	NM_001385648.2(B3GNT8):c.*35_*36insCCGGCCCTGGCC	noncoding	Benign
19	41860791	TA	T	A41860795G	RPS19	NM_001022.4(RPS19):c.21del:p.Asp8fs	coding	Pathogenic
19	41860831	A	AGCCT	T41860836G	RPS19	NM_001022.4(RPS19):c.58_61dup:p.Phe21fs	coding	Pathogenic
19	41869144	T	TC	A41869147C	RPS19	NM_001022.4(RPS19):c.288dup:p.Lys97fs	coding	Pathogenic
19	41869150	AGT	A	T41869154G	RPS19	NM_001022.4(RPS19):c.296_297del:p.Val99fs	coding	Pathogenic
19	41869382	CCT	C	C41869387G	RPS19	NM_001022.4(RPS19):c.356+169CT[2]	noncoding	Benign
19	41869713	C	CA	C41869715A	RPS19	NM_001022.4(RPS19):c.372dup:p.Pro125fs	coding	Pathogenic
19	41869724	C	CA	G41869728A	RPS19	NM_001022.4(RPS19):c.385dup:p.Arg129fs	coding	Pathogenic
19	41869743	TCG	T	G41869745C	RPS19	NM_001022.4(RPS19):c.403_404del:p.Ala135fs	coding	Pathogenic
19	41871355	CAGCTGCC	GAAGCATTAG	C41871355G	RPS19	NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG:p.Ala139fs	coding	Pathogenic
19	41880451	G	GGGAA	G41880507A	CD79A	NM_001783.4(CD79A):c.499-218GGAA[14]	noncoding	Benign
19	41902040	GCAGAGCCAGGGTCCCTCTGTGTACCCCACTGCCCCA	G	A41902042G	ARHGEF1	NM_004706.4(ARHGEF1):c.1414+9_1414+44del	noncoding	Benign
19	41905040	A	AG	T41905048G	ARHGEF1	NM_004706.4(ARHGEF1):c.2249+11dup	noncoding	Benign
19	41968037	CAGAG	C	G41968041C	ATP1A3	NM_152296.5(ATP1A3):c.2820-278_2820-275del	noncoding	Benign
19	41969470	C	CG	T41969473G	ATP1A3	NM_152296.5(ATP1A3):c.2652dup:p.Val885fs	coding	Pathogenic
19	41981984	AG	A	G41981985T	ATP1A3	NM_152296.5(ATP1A3):c.1115del:p.Thr372fs	coding	Pathogenic
19	41993501	GCACACACA	G	A41993543T	ATP1A3	NM_152296.5(ATP1A3):c.6+522TG[20]	noncoding	Benign
19	41993501	GCACACA	G	A41993545T	ATP1A3	NM_152296.5(ATP1A3):c.6+522TG[21]	noncoding	Benign
19	41993501	GCACA	G	A41993547T	ATP1A3	NM_152296.5(ATP1A3):c.6+522TG[22]	noncoding	Benign
19	41993501	GCA	G	A41993549T	ATP1A3	NM_152296.5(ATP1A3):c.6+522TG[23]	noncoding	Benign
19	42225310	C	CT	A42225311T	ZNF526	NM_133444.3(ZNF526):c.907_908insT:p.His303fs	coding	Pathogenic
19	42225914	CAT	C	A42225915G	ZNF526	NM_133444.3(ZNF526):c.1512_1513del:p.Cys505fs	coding	Pathogenic
19	42249038	TGG	T	G42249041T	ERF	NM_006494.4(ERF):c.1072_1073del:p.Pro358fs	coding	Pathogenic/Likely_pathogenic
19	42272882	C	CT	G42272884T	CIC	NM_001386298.1(CIC):c.1100dup:p.Pro368fs	coding	Pathogenic
19	42282887	GGCGGGGTTAGTGGGTGGCTGGCAGAGCAGTGTGGTGGGGCCAGCCATGGTGTGCTCTGTGGTTCCCTGCCTTATACTGCTAGACAGAGGGTCCAGAGTGGCCAATGAGTGTCAGGGTGGGTGGCTGAATGATGGCGGTGGCCACTGAGCTCTGTATACCTGATGGGCCTGGGTACTGAAGCAGGTAGCACCCATTAGGGTAGGATTATATAGAGGGTGGGGTCGGTATGATGGTGTCTGTGAGAGCTGAGTGTGCACTGGGGATAGGAGGCGCTTTGTGAGTGCTAGGAAGGCTGTGTGTGTGACGGAGGAGTGTGTGGTTGTGTGGGAGGGGTGTGGAGTGTGTGTAGTGGACAAGCAGGGCTATGCTGAGTTCCTCCTGTTTGACATGTTGTCTGTTTGCATGATTCATGTGGGCTGGTGGGGGTGTGATGAGGATGCGGGTTGGCGAAGCATGTGTGACAGGGCATGGATGAGATGGGTGATGTGAACAGGATGGGTGAATGCACGATGGTGGGTGGGGAGCGATGGACCGTGAGCGTGTGAGGTTGTACATCTGTGTGAGCAGGTATGTGAGGTGTGACAGCGTGGGTGTAAGACAGAGGGCATATGTGCCCGTGGGGTGTGTAGGAGATAATGGGTGTGGCACGAAAGTGTGTCTGTATGTCTGTGAGGAGTGTGAGTGTGAGTAGGTGAGGGCTCAGGATGCCTCGCCCAGCCCTACGCGCAGTTTGTCTGCCCAGCGGGGCCAGGCGCGCCCAGGCGGGTGTGCGGGAGGCGGGCCGAGCCGCGCGTGAGCGTGTTCCTCGCGCGGACTGGACACACAACAGCACCACGCACAACCCAGAGACCTCCGCAGCGCGGCGCCCCGAACCGCCCCCCTGGCTCGGTGCCTTTACTGCAGTGCGCCCTCCCTGCCACCCTCCTACCGCGGCCCCGCCCCCGGCCGGCTCGGGGCCAACCGGAGCCCGCCCCGCCCTGCCCTTATTTGCATATGACTGACGTTCCCCCGGGGCGGCCAATGGGGGCGGGCGCGGCGGGGCCTGACCCGCGCGCGGCGGCGGCAGCCAATGGGCTCACGCGCGGGGGGCCGGGCTTGCGCGGAAGGCCGCGGGGGAAGCGGGGAAGGGGCGGGGGGAGGCGCGGCGGGGGGAGGGGAGCGCGTAGTAGTGGCGGGGCGGGGAGGCGGTGGTGGTTCGGCGCGGGGCTCGCTCGGAGCGCACGGACGCACGCACGCTGGTCCGTCTGCCCGCCCGGGGCCGGAGGTCGACCCGGCGCTGAGCCTCGGGCCCGGGGCCCGGAAAGGCGGGGCGGCGGCGCCGGCAGCCGGGACGCGCGGGGCCAGAGCCGTTACCCGCCGGAGCTGCGAGGGAGGGAGGGAACGAGCGAGCCAGCGAGCGGGGAAGGGAGGGGGCCGCCCCCGCGCACGCGCGTCGCGCCCCGCCCCGCCTGCCCCGCCTGCCCCGCCCGCCGGACTCCGCGAGGGAGGAGGGAGAGGGAGGGGGCGGTGCCGATGGCCCCCGTGCCGCGCGCCCCGTGACGGCCCCCGCGCGCGCCGGGGGGCGGGGCGGGGCCGGTGCGCGCTGACCTCCCCCGCCCCCCGGGCGGCGGGAGGCAGGCGGCGCTGTGCGCAGGCGCGCCCGGCAGAGACCCCCGCGTGGGGCGGCCGGAGGGGGGCGGCGGGGGGGGGGGCATGCGGCGACGGCCTCCCGCTCCCCCCGGGCCCAAGCGGCGACGGCCGAGGAGCGGGCTGCGGGCGGAGCGGCGTCGGCCGCTGAGGAGGTGCGAGCCCCTGCCGGGTCCCCCCTGCGCCGGACCATGTATTCGGCCCACAGGCCCCTGATGCCCGCGTCCAGCGCGGCCTCCCGTGGCCTCGGCATGTTCGGTCAGTAGCGCCTGGGCCCTGGGACTGCAGGGGTCAAGGTGTCGGGGTGCTAAGTGCGGAGTAACGGTGGTGGGGGTATAGTAGGGGAGAGAACAGTAGAGGCAGAGTAAAGGGATGACGGGGAAAGTTACGGAGCTCGGCCGGGCCGAGTGGTTAGTGATGGCAGGTGGGAGTGTAGCGGAGTGGGGCGTATCTGGGGACAGCTGTGATGTTAAAGTGATGGGATGGCACAGGTCCGCTGTAATAGAAAGGTGAGGGGTGCAGAGTAACTGGCTCTGGAGCATGGGGTAGAATAGGAACAGCACGAGACCTGCTGGTCCTAGGGGAGGAGGCTTGGATTGGGTAGTGGGGCTAAGGACAGGGCTCAGGAAGCGAGTGAGGCACTGTTAGCTGAGATCAGAGTGACAGGCTGCAGTGTGTGGTGTAGTTTGCAGAGAGCGCGACACCTAAGAACCTGGAGGGTTGTGCACTGGGGAGGGGTTCAGGAGGGAGCAGGACCAAAGGACTGCCCTCCATTGTCTGCTGGGTCCCTTTTCCCCACCCCCCAGAAAAGAGGAGGCCTTGATGGGAAAGATCTTTGCAAAGAGAGGCACAGGTCTAAGTCCCTGGAGGCTTTTATATGGGGTTGGAGGGCCCAGCGGGTTTTCAGGGGTAAGGGACAGGGTCATCGTAGTCTTGAGTGCTCTTCAGTGCTGTCTTCGTGATCCCAGTCCCTTGTTTCCTGAGGTCTACTTTTTCCTTTGTCAGCCCCTCTCAGAATCAGGTCTCGAGGCCAGTGCCTCGCACAGAGCTCCCCCCTGTCCAGGCTTCTGAAGGCATGGGGAGGTCACCTCAGGTCAGGTTGATCCGGATCAAGGGAAGGCCTGGAATGATGGAGAGCAGGGCTAGGGCGGTTCCCTCCTCCCTTCTTCATCTTCCCCGAGCAGGGGCCTCTCTCCTCTGCTGGTTCCACTTCCCCCAGGGAGCCAGGCAGTGTGAGGGGAAGCCCACTGGTATCCTAGGCCCGCCCCAAAAGTCCAGCCAGGGGTAGGTCCCAGCCTAGGGCTTGCTCTTCCACCACCCACCTCTTGGGGCTGAAGGTTGGACCCCTGGGACCAGCCTCTTGGTGAGGAAGCATCTTCCTGTGCATATCCTCAAGGAAACACCTGGCACTTGTGCCCTCTCTGGGTAGAGACTTGTTACAATTCTCTCTTCTGGCCCATTGTCCGTGGTTTTTCTTCCAAGGAGTTTACCACACCCTCCCCTGTTTTGGGCAAGGGGGCTGGACCCTGGACTACAGATAAGCCGAGGGGCTGATGGGGAAGGGAGGCTGGGAGGCCGATTTCTGGATGGTGCATTGTCTTTGTGGGGGCAAAGGAGAGAGCTGCTGGAGCCACCTGTGCCCAGCCAGGAAGGGCAGGTCTGGCACTCTGTGTTTGTGGTGGGGGAGGAAGGCAAGGAGCAGGACCTCTCCCACACCACAGTTGTAAGAGACCCCACAGCCTGTGCATAGTGAACGGAGAGTTGGAGGGGAGGGGACGTGGGGCCGTATGCCTCAGGAAAGGGAAAGAGAGCATGAGGCCAAGGTGAGACGCTGTGTTGGGCGGCGACTGGGCTGCTGGGAATGTGGCATGACGGGGGTGGGGGTCCCAGCCCGTAGAGGTCTGGGGCCTTGGGAGTGTGGGATGGCAGCCAAGCATGACCTGGTTTGTGGCAGGAGCAAATCGTTCCTCTGGCCTGGTCCCTGGTGGCAGGGCTGGTGGAGATTGGTGGGGGGAGGAGTGGGGCGTGAGTACTATTTCCCTTCCCTGCTTCTGTTTTCTTTTTTATAAATCTAGAAACCTTTCAGGGAGGAGTTTTTCCTGAGTGACGTTGCATGGACGAGTCCAAGAGGCTCTGGTGTTGGGGGTGGGGGGTAGACAAAAGGGGTGGGGCTACCTCATCTAGGGTGGGGAAGAGCTTGAGTTGGGGTTGGGGCCAGGCTCTCCTGCTGCACAGCTCACCTGGCTCCTTTCCACAGTGTGGACGAATGTGGAACCTCGCTCTGTGGCTGTGTTCCCTTGGCACTCCTTAGTCCCCTTCCTGGCACCCAGCCAGCCTGACCCCTCCGTGCAGCCGAGCGAGGCCCAGCAACCTGCCAGCCACCCAGTGGCCTCCAACCAGAGCAAAGGTGAGGGCTGGTGGGGACTGGGGGGAGGCAAGGGTGTGGGGTCCAGGTGGCCTAGGAGCCCTCTGATCTACCTCTGTGTCCCCAGAACCTGCTGAGTCGGCAGCTGTTGCTCATGAACGGCCACCAGGTGGGACAGGGAGTGCTGACCCTGAGCGGCCCCCTGGAGCCACATGCCCTGAGAGCCCAGGACCCGGACCCCCACACCCTTTGGGGGTGGTGGAATCTGGTAAGGGTCCGCCTCCCACCACGGAGGAGGAGGCCTCCGGCCCCCCAGGAGAGCCCCGGCTGGACAGTGAGACAGAGAGTGACCATGATGATGCGTGAGTTCCCTGAGGCCTGGGACTTGGGGGTGGGATGGCCAGAGACATGGCCCTCACTGTCCCTGCTGCCCCGCCGCAGCTTCCTCTCCATCATGTCTCCTGAGATCCAGTTGCCTCTACCGCCCGGAAAACGTCGGACCCAGTCCCTCAGTGCCCTACCCAAGGAACGGGACTCATCTTCTGAGAAGGATGGACGCAGCCCCAACAAGGTACTTTATCCCTGCCTGTCCTGTGCTCACCCCGTGGCCACCCACACCTGTCTGCCAGGTCCTAACTGTCCCGCTCTGGGCTGTGTTTAATGCAGCGGGAGAAGGACCACATCCGGCGGCCCATGAATGCCTTCATGATCTTCAGCAAGCGGCACCGGGCCCTGGTCCACCAGCGTCATCCCAACCAGGACAACCGGACCGTCAGCAAGATCCTGGGCGAGTGGTGGTATGCCCTGGGGCCCAAGGAGAAGCAGAAGTACCACGACCTGGCCTTCCAGGTAACGCTGTTGCCTCTTGGCTCCTCCCAGCTTCTTCTGGTGGGGTGGGTGAGTGAAGGGTTGCCCTGCCCTCTCCTGCCAGGTGAAGGAGGCCCACTTCAAGGCCCACCCAGATTGGAAGTGGTGCAACAAGGACCGAAAGAAGTCCAGCTCAGAGGCCAAGCCCACGAGCCTGGGGCTGGCAGGAGGGCACAAGGAGACGCGGGAGCGGAGCATGTCGGAGACGGGCACTGCTGCTGCCCCTGGGGGTTAGTCAGCCCCTTGGCTCTCCCACCCTGCCACCTCCCTCCCCGAGAGCCACCAGCTACCCCCTTGCTTGCTCCTCCCCTGCCCCAGCAGCTCCTCTCTGCTCTATCGCTTTAATTTGGCGACCCTTATCCGTAAAGGAACCGGCAGTTGATTCATGTGACGGAGCCAGGGAGATCCACACAGATACTAAGATTCCCAAACAGCAATCTCGTTATCAACTGTTGTTTAACGAGTGTTTACTATGTGCCTGGCACTACAGGGAATATAAGCTGTAGTCTGCAAAACCCCATTCTATTTCTAGAAGAAGAAACTGAGGTTCAGAGAGGCAAAATCACTTGCTTAAAGTCATAAACAAGCAAATGACAGAGCCAGAATGTAAACCCCAGTTCGGCGGGCCCCCAGCACCATAGTTGGGGCCACTGCAGCTCGCAAACACCCCTGATGGGCTGCTTCCACTTATTGAGGTTGTCTGGTGTGCCTGGCGGTGTTCTGGGGCACATTTTTGGAGTGAGCCTATGGGTATGGCAGTTCTGTGAGGTTAGATGGATAGTTGCTATGGATATGCACTTCTATGAGAGTGGGGACACTAGTTACTTCCTCTTTGAGATGAGGGAACCGAGGCTCAGGCCAGCGGTTGGCTAGCCAGCACCACATGAACCTCTCTCCAGGCCTCCTTACTTTCAGGAGGGCTGCCCCCCAGGGAATGGGCCTGCTGCAACCCCAGAGGGCAGGAATCAGCAGGAATGAGATGCTGGACTGGTGGTGGGTGGTGGTTTTTTTTTTTCACCAAGTGGCCCAGAAATTCCAGCCTGCTTCTGCCTAGTACCTAGAAATATCTATGGGTTGTTGGGCCAGTCTAGGTGCTGGTGACAGGCTTACTGACTGTCATAGCGCCACTCTCTACTTTACAGTGTCCTCTGAGCTCCTGTCCGTTGCAGCCCAGACACTCCTGAGCTCAGACACCAAGGCTCCGGGGAGCAGCTCCTGTGGGGCAGAACGGCTACACACAGTTGGGGGACCTGGCTCAGCCCGGCCCCGAGCTTTCTCCCACAGCGGGGTACACAGCCTGGACGGCGGAGAAGTAGACAGTCAGGCGCTACAGGAACTGACGCAGGTCTAGGGTGCAGGCCCCCTAGTGGGGGTGGGCAGGGAACCTGTCCAGGGCAGCAGCCCCGCTGAACCCTCTCTGCCACCTATCCTGCAGATGGTGTCTGGCCCTGCATCGTACTCTGGCCCAAAGCCTTCTACCCAGTATGGAGCTCCAGGACCCTTTGCAGCCCCTGGTGAGGGAGGTGCCTTGGCGGCCACTGGGCGGCCCCCGCTGCTGCCCACCCGAGCTTCTCGTTCTCAGCGTGCGGCCAGTGAGGACATGACGAGTGATGAGGAGCGCATGGTCATCTGTGAGGAGGAAGGGGATGATGATGTCATTGGTGAGCATTGCAGGGCCCAGAATCTTGCCCAGGACCCAGCAGGCCAAGGCTCAGAGGGTGGGCAGAACTTGGATCCAGGCCCCTAGGCCCCTTTGTTTTCTTTTCCACTTGGTTTATGGTTGCATGTGGCCAGTTCAGGCCCTGCCGAGTAAATCCAGCCCTGCCCTCAGGAAGCCCCCAGCCCTGCAGGAAATCTGGAGGACAGGGGGCATGACCAGATCTTCAGGTGCAGTGTTAGGGGCTCTGTCCTGCAGGCTCATAGGCTCCTGCACTGGGCAGTGGGCACTGGGCATGTGGGCACAGCCCTGGGCTGAGGAGTAGCCTTCCTGGACAGCACTCCCTGCCGGTTTGGAGCAGAGCTGAGATCCAGGCTCCAGACTGTTTCTCCTGGGTCCCCCTGCATCTAGCCCCCTCCCCATACTGTTCCCTCCACTCCCTCAGCTGACGATGGCTTCGGCACCACTGACATTGATCTCAAGTGCAAGGAGCGGGTGACCGACAGCGAGAGTGGGGACAGCTCTGGGGAGGACCCAGAGGGCAACAAGGTGAGGGCTTGGGTCACGGTGCTGTCCCATCACACTCCCTCCTAAGCCATGGGAATGTCTGTTTCTCCCGGGCTTGAGAGAGGGGGAGATTAAGGTCCAGAGAGGGCAAGCTGCTTGCCCCGTGGGGAGTTGGGTCATAGTCAGGATGAATTGAGGCCTTCAGCTGGCAGGGGTGCAGCCCTAGGCTGGCCTGGCTGACAGGCTGGATGGGCATGGCTAGGGGGCTGCTATCGAGGTGTCGGAGTGTCCTGACCTGGGGTGTCTCCCTTCCTTTCATGCAGGGCTTTGGTCGGAAGGTGTTTTCACCTGTGATCCGTTCCTCCTTTACCCACTGCCGCCCCCCACTGGACCCTGAGCCCCCAGGGCCCCCGGATCCTCCTGTAGCCTTTGGCAAAGGCTATGGTTCCGCCCCATCCTCCTCTGCGTCCTCGCCTGCTTCCTCCTCAGCCTCGGCAGCCACCTCCTTCTCACTGGGCTCAGGAACCTTCAAGGCCCAGGAGTCTGGTCAGGGCAGCACAGCGGGCCCCCTACGGCCCCCACCCCCTGGGGCTGGGGGTCCAGCGACACCTTCCAAGGCAACCCGGTTCCTCCCAATGGATCCTGCCACCTTCCGGCGCAAGAGACCCGAAAGTGTGGGTGGCCTGGAGCCACCAGGCCCCTCAGTCATCGCGGCCCCTCCCAGCGGAGGAGGAAACATCCTGCAGACACTGGTGCTGCCCCCAAACAAGGAGGAGCAAGAGGGCGGCGGAGCCAGAGTGCCCTCCGCCCCCGCCCCATCACTGGCCTATGGGGCCCCAGCAGCTCCCCTGTCCCGTCCTGCCGCCACCATGGTCACCAATGTGGTGCGGCCTGTCAGCAGCACTCCTGTGCCCATCGCCTCTAAGCCCTTCCCCACCTCTGGCCGGGCTGAGGCGTCTCCAAATGACACAGCAGGTGCCAGGACTGAAATGGGCACTGGGTCTCGGGTGCCTGGGGGCTCCCCGCTGGGTGTCAGCTTAGTGTATTCGGACAAGAAGTCGGCAGCAGCCACCTCACCAGCCCCACACTTGGTGGCTGGACCCCTGCTGGGCACTGTGGGGAAGGCGCCTGCCACTGTCACTAACCTACTGGTGGGCACCCCGGGGTATGGGGCCCCTGCGCCCCCTGCTGTCCAGTTCATTGCCCAGGGGGCCCCTGGTGGTGGGACCACTGCGGGCTCAGGAGCAGGTGCTGGGAGTGGCCCCAATGGGCCAGTACCCCTGGGCATCCTGCAACCAGGTGCCCTGGGCAAGGCTGGGGGAATCACCCAGGTACAGTACATCCTGCCCACGCTGCCCCAGCAGCTTCAGGTGGCACCTGCCCCA	G	G42282890A	CIC	NM_001386298.1(CIC):c.2795-3881_5255del	noncoding	Pathogenic
19	42287115	A	AC	A42287121C	CIC	NM_001386298.1(CIC):c.3059dup:p.His1021fs	coding	Pathogenic
19	42292828	AGC	A	G42292829C	CIC	NM_001386298.1(CIC):c.6166_6167del:p.Ala2056fs	coding	Pathogenic
19	42294246	GC	G	C42294249A	CIC	NM_001386298.1(CIC):c.6999del:p.Asn2334fs	coding	Pathogenic
19	42335392	AC	A	C42335396T	MEGF8	NM_001271938.2(MEGF8):c.828+11del	noncoding	Benign
19	42349479	ATCAC	A	T42349484A	MEGF8	NM_001271938.2(MEGF8):c.2299-15_2299-12del	noncoding	Benign/Likely_benign
19	42354118	GT	G	T42354131G	MEGF8	NM_001271938.2(MEGF8):c.4011+107del	noncoding	Benign
19	42358199	TG	T	G42358205T	MEGF8	NM_001271938.2(MEGF8):c.5073del:p.Phe1692fs	coding	Pathogenic
19	42370843	CGGGGGG	C	G42370867A	MEGF8	NM_001271938.2(MEGF8):c.7136+36_7136+41del	noncoding	Benign
19	42371064	G	GCCC	A42371069C	MEGF8	NM_001271938.2(MEGF8):c.7136+235_7136+237dup	noncoding	Benign
19	42403241	ATG	A	T42403292A	LIPE	NM_005357.4(LIPE):c.2543-262CA[25]	noncoding	Benign
19	42403241	ATGTG	A	T42403290A	LIPE	NM_005357.4(LIPE):c.2543-262CA[24]	noncoding	Benign
19	42403241	ATGTGTG	A	T42403288A	LIPE	NM_005357.4(LIPE):c.2543-262CA[23]	noncoding	Benign
19	42403241	ATGTGTGTG	A	T42403286A	LIPE	NM_005357.4(LIPE):c.2543-262CA[22]	noncoding	Benign
19	42403241	ATGTGTGTGTG	A	T42403284A	LIPE	NM_005357.4(LIPE):c.2543-262CA[21]	noncoding	Benign
19	42403292	T	TGA	C42403295G	LIPE	NM_005357.4(LIPE):c.2543-263_2543-262dup	noncoding	Benign
19	42408111	G	GGC	G42408115C	LIPE	NM_005357.4(LIPE):c.1519_1520dup:p.Ser508fs	coding	Pathogenic
19	42408565	G	GA	G42408577A	LIPE	NM_005357.4(LIPE):c.1420-254dup	noncoding	Benign
19	42426101	C	CTTT	A42426126T	LIPE	NM_005357.4(LIPE):c.883+142_883+144dup	noncoding	Benign
19	43508000	CAGCTGAGGGTG	C	T43508004C	ETHE1	NM_014297.5(ETHE1):c.645_655del:p.Leu215_Thr216insTer	coding	Pathogenic
19	43508346	C	CT	G43508366T	ETHE1	NM_014297.5(ETHE1):c.596-305dup	noncoding	Benign
19	43508346	C	CTT	G43508366T	ETHE1	NM_014297.5(ETHE1):c.596-305_596-304dup	noncoding	Benign
19	43508346	C	CTTTT	G43508366T	ETHE1	NM_014297.5(ETHE1):c.596-305_596-302dup	noncoding	Benign
19	43508346	C	CTTTTT	G43508366T	ETHE1	NM_014297.5(ETHE1):c.596-305_596-301dup	noncoding	Benign
19	43511528	GC	G	C43511530T	ETHE1	NM_014297.5(ETHE1):c.413del:p.Gly138fs	coding	Pathogenic
19	43526317	C	CTGTAA	G43526326A	ETHE1	NM_014297.5(ETHE1):c.254_258dup:p.Gly87fs	coding	Pathogenic
19	43526551	GC	G	C43526552T	ETHE1	NM_014297.5(ETHE1):c.189del:p.Gln63fs	coding	Pathogenic
19	43526667	CG	C	G43526672A	ETHE1	NM_014297.5(ETHE1):c.82-9del	noncoding	Benign
19	43527400	CAG	C	G43527404A	ETHE1	Single_allele	noncoding	Benign
19	43776717	AT	A	T43776729G	KCNN4	NM_002250.3(KCNN4):c.160-82del	noncoding	Benign
19	44703406	GC	TT	G44703406T	CEACAM16	NM_001039213.4(CEACAM16):c.95_96delinsTT:p.Ser32Ile	coding	Benign/Likely_benign
19	44703758	CT	C	T44703766A	CEACAM16	NM_001039213.4(CEACAM16):c.382+73del	noncoding	Benign
19	44703766	T	TA	T44703781A	CEACAM16	NM_001039213.4(CEACAM16):c.382+87dup	noncoding	Benign
19	44710785	CT	C	T44710788C	CEACAM16	Single_allele	noncoding	Benign
19	44907859	TG	T	G44907862T	APOE	NM_000041.4(APOE):c.146del:p.Gly49fs	coding	Pathogenic
19	44909521	CT	C	T44909535A	APOE	Single_allele	noncoding	Benign
19	44948761	AG	A	G44948763T	APOC2	NM_000483.5(APOC2):c.118del:p.Gln39_Val40insTer	coding	Pathogenic
19	44949012	C	CCCT	G44949014C	APOC2	NM_000483.5(APOC2):c.216-146_216-145insCTC	noncoding	Benign
19	44949212	CT	C	T44949213G	APOC2	NM_000483.5(APOC2):c.270del:p.Asp91fs	coding	Pathogenic
19	44949215	A	AC	A44949218C	APOC2	NM_000483.5(APOC2):c.274dup:p.Gln92fs	coding	Pathogenic
19	45351797	A	AC	G45351805C	ERCC2	NM_000400.4(ERCC2):c.2191-83dup	noncoding	Benign
19	45352542	GC	G	C45352546T	ERCC2	NM_000400.4(ERCC2):c.2009del:p.Gly670fs	coding	Pathogenic
19	45352545	C	CT	C45352546T	ERCC2	NM_000400.4(ERCC2):c.2006_2007insA:p.Lys671fs	coding	Pathogenic
19	45352780	A	AC	G45352782C	ERCC2	NM_000400.4(ERCC2):c.1867dup:p.Val623fs	coding	Pathogenic
19	45353253	TCT	CCGAAA	T45353253C	ERCC2	NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG:p.Glu582_Lys583delinsValSerGlu	coding	Pathogenic
19	45357249	GCC	G	C45357251T	ERCC2	NM_000400.4(ERCC2):c.1479+19_1479+20del	noncoding	Benign
19	45361507	GA	G	A45361512G	ERCC2	NM_000400.4(ERCC2):c.1237+16del	noncoding	Benign
19	45361666	C	CG	C45361673G	ERCC2	NM_000400.4(ERCC2):c.1119-25dup	noncoding	Benign
19	45363853	C	CA	G45363855A	ERCC2	NM_000400.4(ERCC2):c.1007dup:p.Leu337fs	coding	Pathogenic
19	45364083	CT	C	T45364084C	ERCC2	NM_000400.4(ERCC2):c.851del:p.Glu284fs	coding	Pathogenic
19	45364527	C	CA	C45364529A	ERCC2	NM_000400.4(ERCC2):c.614dup:p.Val206fs	coding	Pathogenic
19	45364832	CCTCA	C	C45364835G	ERCC2	NM_000400.4(ERCC2):c.594+2_594+5del	noncoding	Pathogenic/Likely_pathogenic
19	45364837	CTGAG	C	G45364839A	ERCC2	NM_000400.4(ERCC2):c.591_594del:p.Arg196_Tyr197insTer	noncoding	Pathogenic
19	45364851	AG	A	G45364853A	ERCC2	NM_000400.4(ERCC2):c.580del:p.Ala195fs	coding	Pathogenic
19	45370865	TTGTC	T	T45370868A	ERCC2	Single_allele	noncoding	Benign
19	45395721	A	AG	C45395728G	PPP1R13L	NM_006663.4(PPP1R13L):c.1068dup:p.Ser357fs	coding	Pathogenic
19	45416637	CAA	C	A45416655T	ERCC1	NM_001983.4(ERCC1):c.602+182_602+183del	noncoding	Benign
19	45416637	CA	C	A45416656T	ERCC1	NM_001983.4(ERCC1):c.602+183del	noncoding	Benign
19	45418965	ACCCATGTCATCTCAGATGTGAAAAACGTTCCTCGCTGAGGTTTTAGCTGCATTTCCTCTTGGAAGGGATTCAACAGCCCACTGCACAACCTCAAAGCCCGGTGAGGCTGGCTAGGGAGCAGCCCCTGCTTACCACATCCACCTGGACAAGCAGGACCCGCAAGGCGAAGTTCTTCCCCAGGCTCTGCAGCCGCCCATGGATGTAGTCTGGGTGCAGGTTGTGGTAGCGGAGGCTGGTGGGGGCAGGGAGCGGGAGTTGAGAGGTCTCAGTCTCTTCAAGACCCCCAAAGCCCTTTTCCCTCTCACTGGAATACTAAGGGCTCAGAGTACGGCATGGGGGACAGAGGGTCCTGAGGCCCACAGAGGGTAAGTCACTTGCCCCAGGTCACTCTTCCAAGAAGATGCTCCGCAGGGATTGGCAGCCAGGGCCACATGGCTGTGCTTACCTAGAAGACCAGACCCCTGGCTTCTTCATGAAGAGGGGAAGAGACTTGGGCTTCAAGGGGAGAACAGGTGCCAGGGGCCCTAGAGAGTGTGGGCACGGGGACACTGCATGGCTCGCGGTGGGAAGCAGGGCCCACTGCCAAACCATCTGCTCTGGCCTTGGAGGGCTACGGTGAGGGCTTCATGACCCAGGGAACTAGGACTGGCTCTGCCCAGCAGTCTGCAGCTGTCACAGCCTGCAGGGAGCACAGGAACTCAGAGGTTTCACTTCCTCTGTCTGGCCCTGTCTGCAGAGGGGCCCCTAGGTTGGAGGGGAAAGTTGTTTAACTAGGGTAGAGATGGGAGAAATCCTGCTTCTCATCAACTCCAGTCAAGGATGTCTGGGACATGAGTGACCCAGTCCCTCCTCCGTCAGATCCAGGAGTCTGGGCCCAGCCCCTCCTCCCTTAGACCCAGGAATCTGGCCCCAGCCCCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTGAGACCCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTGAGACCCCAGGAGTCCAGGCCCCCAGCCCCTCCTGCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGATCCCCAGGAGTCCAGCCCTCAGCCCCTCCTCCCCCGGACCCAGGAGTCCGGCCCCCAGCCCCTCCTTCCTGAGACCCAGGAGTTCGGGCTCCAGCTCTTGTTGCACTGGGCACCTCCAGGCCAAGACCCCCTGCCTCCAACACAGGGTCCCACCAAGGCCCAGAACCTGCAGGACCATGCCCAGAGGCTTCTCATAGAACAGTCCAGAACACTGGGACATGACCCTCCCAGGCCAGTGGGGTGCCCTTCCTGAAGTCTGGGGTGGCGCCGCAGAGCTCACCTGAGGAACAGGGCACAGGTGCTCTGGCCCAGCACATAGTCGGGAATTACGTCGCCAAATTCCCAGGGCACATTGCGCACGAACTTCAGTACGGGATTGCCCCTCTGGGGAGGGACGAAGGGCAGAAGCCATCAATAGGGATGACCCTTGATAACCACAGGGCCCTCCTCCACCTCTTCTTGCACCTCCTCCCTCCTCCCACCTCTTCCCACACCTCCTGCCTCCTCGCACCTCTTCCCACACCTCCTCCCTCCTCCCACCTGTGGCAGGGTCTTTTCCAGCTTCTCTCTCCTCCTAACCCTGGACAGTCCCTGATCCTCTGATCCAGGCTCCTCCCCTCCATGCCCACTGGCACCAGGCCTTTCCTAAAGGGTCCCCGGGTCTGTCTCCAGCTCAGCCCTCTCCCTCCAGCCCCAGTCTGCGTGTCCTGTGGTCCTGAACACTTCCTGCCCTCACGCCCAGCAACTTTTTGTGTTTTTAGTAGAGATGGGGTGTCACCATATTCGCCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTCATTCAGTACATTTTGAATAAATTAACAAACCTGGGGTGAGGAAACAGAGCTACACCAATACAGCCACAGCCCCAGCAAGTAGAGCTGGGGCACTCTCAACCCACACACTGCTGTCGAATGAATGAATGAATGAATGAATGAATGGGGAGAACAAAGTGGCTGGAACTCAGACCTCCTTGCACTGGAGTCATC	A	C45418968T	ERCC1	NM_001983.4(ERCC1):c.321+61_525+132del	noncoding	Pathogenic
19	45423446	A	AC	A45423453C	ERCC1	NM_001983.4(ERCC1):c.-7-71dup	noncoding	Benign
19	45488717	AG	A	G45488719T	RTN2	NM_005619.5(RTN2):c.1381-12del	noncoding	Benign/Likely_benign
19	45489136	G	GGGGTCA	G45489158T	RTN2	NM_005619.5(RTN2):c.1242-168TGACCC[4]	noncoding	Benign
19	45489676	C	CT	G45489696T	RTN2	NM_005619.5(RTN2):c.1034-142dup	noncoding	Benign
19	45489676	C	CTTT	G45489696T	RTN2	NM_005619.5(RTN2):c.1034-142_1034-140dup	noncoding	Benign
19	45489676	C	CTTTT	G45489696T	RTN2	NM_005619.5(RTN2):c.1034-142_1034-139dup	noncoding	Benign
19	45496962	AGCCGCCGCC	A	G45496987C	RTN2	NM_005619.5(RTN2):c.-170GGC[8]	noncoding	Benign
19	45529477	CAG	C	A45529478G	OPA3	NM_001017989.3(OPA3):c.143-23_143-22del	noncoding	Benign
19	45547704	C	CT	G45547715T	OPA3	NM_025136.4(OPA3):c.*5809dup	coding	Benign
19	45768919	T	TC	T45768926C	SIX5	NM_175875.5(SIX5):c.-76dup	noncoding	Benign
19	45940577	GGGGCCCAGCA	G	G45940580C	NOVA2	NM_002516.4(NOVA2):c.755_764del:p.Leu252fs	coding	Pathogenic
19	45940612	CT	C	T45940613G	NOVA2	NM_002516.4(NOVA2):c.729del:p.Ala244fs	coding	Pathogenic
19	46601053	TGG	T	G46601055C	CALM3	Single_allele	noncoding	Benign
19	46601449	T	TG	T46601456G	CALM3	NM_005184.4(CALM3):c.3+18dup	noncoding	Benign
19	46608465	CT	C	T46608468C	CALM3	NM_005184.4(CALM3):c.179-14del	noncoding	Benign/Likely_benign
19	46609100	CCT	C	C46609109G	CALM3	NM_005184.4(CALM3):c.422-24CT[4]	noncoding	Benign
19	46755671	AC	A	C46755674A	FKRP	NM_024301.5(FKRP):c.224del:p.Pro75fs	coding	Pathogenic
19	46755957	GGCCCTGAACGTCA	G	C46755961T	FKRP	NM_024301.5(FKRP):c.511_523del:p.Leu171fs	coding	Pathogenic
19	46755963	G	GA	C46755966A	FKRP	NM_024301.5(FKRP):c.515dup:p.Asn172fs	coding	Pathogenic
19	46755985	A	ACCGCCCGCTATGGCGCAGCCCCCGCCGCGCC	T46756021C	FKRP	NM_024301.5(FKRP):c.540_570dup:p.Cys191fs	coding	Pathogenic
19	46756098	G	GC	G46756101C	FKRP	NM_024301.5(FKRP):c.650dup:p.Val218fs	coding	Pathogenic
19	46756103	TG	T	G46756106C	FKRP	NM_024301.5(FKRP):c.656del:p.Gly219fs	coding	Pathogenic/Likely_pathogenic
19	46756110	C	CA	G46756112A	FKRP	NM_024301.5(FKRP):c.661dup:p.Ser221fs	coding	Pathogenic
19	46756135	CG	C	G46756136C	FKRP	NM_024301.5(FKRP):c.686del:p.Arg229fs	coding	Pathogenic/Likely_pathogenic
19	46756226	GCGAGGGA	G	A46756229C	FKRP	NM_024301.5(FKRP):c.779_785del:p.Glu260fs	coding	Pathogenic
19	46756368	CT	C	T46756369A	FKRP	NM_024301.5(FKRP):c.919del:p.Tyr307fs	coding	Pathogenic
19	46756397	C	CA	C46756398A	FKRP	NM_024301.5(FKRP):c.947_948insA:p.Cys317fs	coding	Pathogenic
19	46756426	G	GC	G46756430C	FKRP	NM_024301.5(FKRP):c.979dup:p.Arg327fs	coding	Pathogenic
19	46756524	AT	A	T46756525G	FKRP	NM_024301.5(FKRP):c.1075del:p.Trp359fs	coding	Pathogenic
19	46756635	G	GA	G46756638A	FKRP	NM_024301.5(FKRP):c.1187dup:p.Ala397fs	coding	Pathogenic
19	46756682	A	AC	A46756685C	FKRP	NM_024301.5(FKRP):c.1234dup:p.His412fs	coding	Pathogenic
19	46756784	TCC	T	C46756785T	FKRP	NM_024301.5(FKRP):c.1335_1336del:p.Leu446fs	coding	Pathogenic
19	46756800	GC	G	C46756804T	FKRP	NM_024301.5(FKRP):c.1354del:p.Leu452fs	coding	Pathogenic
19	46839825	CTGAT	C	T46839826C	AP2S1	NM_004069.6(AP2S1):c.154-251_154-248del	noncoding	Benign
19	46839841	A	AG	A46839844G	AP2S1	NM_004069.6(AP2S1):c.154-265dup	noncoding	Benign
19	46846153	CAGG	C	G46846159A	AP2S1	NM_004069.6(AP2S1):c.4-14_4-12del	noncoding	Benign/Likely_benign
19	47000437	GC	G	C47000439A	ARHGAP35	NM_004491.5(ARHGAP35):c.4251del:p.Thr1418fs	coding	Pathogenic
19	47000626	AC	A	C47000632A	ARHGAP35	NM_004491.5(ARHGAP35):c.4444del:p.Gln1482fs	coding	Pathogenic
19	47479863	CCT	C	C47479864T	KPTN	NM_007059.4(KPTN):c.785_786del:p.Lys262fs	coding	Pathogenic
19	47680143	C	CTGGCGGTGGCCCCA	G47680158T	BICRA	NM_001394372.1(BICRA):c.974_987dup:p.Gly330fs	coding	Pathogenic
19	47681160	C	CCCCAG	T47681174A	BICRA	NM_001394372.1(BICRA):c.1999_2003dup:p.Gly669fs	coding	Pathogenic
19	47681240	CCTCA	C	C47681245G	BICRA	NM_001394372.1(BICRA):c.2075_2078del:p.Thr692fs	coding	Pathogenic
19	47694310	GC	A	G47694310A	BICRA	NM_001394372.1(BICRA):c.2479_2480delinsA:p.Ala827fs	coding	Pathogenic
19	47694932	T	TG	C47694940G	BICRA	NM_001394372.1(BICRA):c.2935dup:p.Ala979fs	coding	Pathogenic
19	47696510	C	CT	G47696512T	BICRA	NM_001394372.1(BICRA):c.3247dup:p.Cys1083fs	coding	Pathogenic
19	47701410	CCT	C	C47701411G	BICRA	NM_001394372.1(BICRA):c.3679_3680del:p.Leu1227fs	coding	Pathogenic
19	47839567	CAG	C	A47839570T	CRX	NM_000554.6(CRX):c.503_504del:p.Glu168fs	coding	Pathogenic
19	47839586	G	GGC	A47839591G	CRX	NM_000554.6(CRX):c.522_523dup:p.Gln175fs	coding	Pathogenic
19	47839629	TC	T	C47839631G	CRX	NM_000554.6(CRX):c.564del:p.Ala189fs	coding	Pathogenic
19	47839632	G	GC	T47839638C	CRX	NM_000554.6(CRX):c.570dup:p.Tyr191fs	coding	Pathogenic
19	47839637	CT	C	T47839638A	CRX	NM_000554.6(CRX):c.571del:p.Tyr191fs	coding	Pathogenic
19	47839651	ACG	A	G47839653C	CRX	NM_000554.6(CRX):c.586_587del:p.Ala196fs	coding	Pathogenic
19	47839715	CG	C	G47839717C	CRX	NM_000554.6(CRX):c.650del:p.Gly217fs	coding	Pathogenic
19	47839883	CAC	AA	C47839883A	CRX	NM_000554.6(CRX):c.816_818delinsAA:p.Thr273fs	coding	Pathogenic
19	48137531	AG	A	G48137532T	LIG1	NM_000234.3(LIG1):c.1244del:p.Thr415fs	coding	Pathogenic
19	48140157	CG	C	G48140162T	LIG1	NM_000234.3(LIG1):c.915-15del	noncoding	Benign
19	48153861	T	TG	C48153867G	LIG1	NM_000234.3(LIG1):c.466+10dup	noncoding	Benign
19	48156986	GAAGGGGCA	G	A48156987G	LIG1	NM_000234.3(LIG1):c.370+20_370+27del	noncoding	Benign
19	48231760	C	CTT	A48231764T	CARD8	NM_001184900.3(CARD8):c.440_441dup:p.Val148fs	coding	Benign
19	48318749	TA	T	A48318750G	ODAD1	NM_001364171.2(ODAD1):c.133del:p.Tyr45fs	coding	Pathogenic
19	48319019	GT	G	T48319026C	ODAD1	NM_001364171.2(ODAD1):c.71-208del	noncoding	Benign
19	48419574	GC	G	C48419579T	GRIN2D	NM_000836.4(GRIN2D):c.1862-6del	noncoding	Benign
19	48441760	T	TC	A48441767C	GRIN2D	NM_000836.4(GRIN2D):c.2253-3dup	noncoding	Benign
19	48442585	TC	T	C48442589G	GRIN2D	NM_000836.4(GRIN2D):c.2674-11del	noncoding	Benign
19	48616643	C	CCAGCACAGCACAGCACAGCA	T48616682C	RPL18	NM_000979.4(RPL18):c.297+48TGCTG[11]	noncoding	Benign
19	48616643	C	CCAGCACAGCACAGCA	T48616682C	RPL18	NM_000979.4(RPL18):c.297+48TGCTG[10]	noncoding	Benign
19	48616643	C	CCAGCACAGCA	T48616682C	RPL18	NM_000979.4(RPL18):c.297+48TGCTG[9]	noncoding	Benign
19	48616643	C	CCAGCA	T48616682C	RPL18	NM_000979.4(RPL18):c.297+48TGCTG[8]	noncoding	Benign
19	48616995	T	TA	T48617007A	RPL18	NM_000979.4(RPL18):c.199-182dup	noncoding	Benign
19	48966666	C	CA	G48966668A	FTL	NM_000146.4(FTL):c.460dup:p.Arg154fs	coding	Pathogenic
19	48970707	TACC	T	A48970708T	GYS1	NM_002103.5(GYS1):c.1646-1_1647del	coding	Pathogenic
19	48973963	C	CATGCCCA	T48973964A	GYS1	NM_002103.5(GYS1):c.1549+249_1549+250insTGGGCAT	noncoding	Benign
19	48981880	TTTTTG	T	G48981905T	GYS1	NM_002103.5(GYS1):c.1063-269CAAAA[4]	noncoding	Benign
19	48982731	GC	G	C48982735G	GYS1	NM_002103.5(GYS1):c.929del:p.Gly310fs	coding	Pathogenic
19	48985583	CCT	C	C48985584G	GYS1	NM_002103.5(GYS1):c.699_700del:p.Arg236fs	coding	Pathogenic
19	48987265	CTCCGATGTTGCAGGTA	C	G48987269C	GYS1	NM_002103.5(GYS1):c.405_420del:p.Asp135fs	coding	Pathogenic
19	49016528	CT	C	T49016529G	LHB	NM_000894.3(LHB):c.183+18del	noncoding	Benign
19	49168185	A	AGT	C49168200G	TRPM4	NM_017636.4(TRPM4):c.449-74GT[8]	noncoding	Benign
19	49171781	G	GGGGC	C49171786G	TRPM4	NM_017636.4(TRPM4):c.1050+13_1050+16dup	noncoding	Benign/Likely_benign
19	49181530	C	CTT	G49181552T	TRPM4	NM_017636.4(TRPM4):c.1263+89_1263+90dup	noncoding	Benign
19	49181530	C	CTTT	G49181552T	TRPM4	NM_017636.4(TRPM4):c.1263+88_1263+90dup	noncoding	Benign
19	49182242	A	ATCTG	C49182245T	TRPM4	NM_017636.4(TRPM4):c.1264-334_1264-333insTGTC	noncoding	Benign
19	49182246	A	ATCTG	C49182249T	TRPM4	NM_017636.4(TRPM4):c.1264-330_1264-329insTGTC	noncoding	Benign
19	49182250	ATCTG	A	T49182253C	TRPM4	NM_017636.4(TRPM4):c.1264-325_1264-322del	noncoding	Benign
19	49182451	CCCAT	C	A49182498G	TRPM4	NM_017636.4(TRPM4):c.1264-126CCAT[11]	noncoding	Benign
19	49182451	CCCATCCATCCATCCAT	C	A49182486G	TRPM4	NM_017636.4(TRPM4):c.1264-126CCAT[8]	noncoding	Benign
19	49182475	TCC	T	C49182476A	TRPM4	NM_017636.4(TRPM4):c.1264-102_1264-101del	noncoding	Benign
19	49182478	ATCCATCCATCCATC	A	T49182479C	TRPM4	NM_017636.4(TRPM4):c.1264-99_1264-86del	noncoding	Benign
19	49190485	TG	T	G49190492A	TRPM4	NM_017636.4(TRPM4):c.2132+172del	noncoding	Benign
19	49594585	T	TC	A49594589C	PRR12	NM_020719.3(PRR12):c.334dup:p.Gln112fs	coding	Pathogenic
19	49595587	CAG	C	A49595590C	PRR12	NM_020719.3(PRR12):c.1255_1256del:p.Ser419fs	coding	Pathogenic
19	49596569	CTG	C	G49596571T	PRR12	NM_020719.3(PRR12):c.2236_2237del:p.Val746fs	coding	Pathogenic
19	49596726	T	TC	A49596734C	PRR12	NM_020719.3(PRR12):c.2398dup:p.Gln800fs	coding	Pathogenic
19	49597010	C	CGGCGCCTGGGGATACT	T49597031C	PRR12	NM_020719.3(PRR12):c.2680_2695dup:p.Val899fs	coding	Pathogenic
19	49597558	AC	A	C49597559A	PRR12	NM_020719.3(PRR12):c.3224del:p.Thr1075fs	coding	Pathogenic
19	49597603	AC	A	C49597608A	PRR12	NM_020719.3(PRR12):c.3273del:p.Lys1092fs	coding	Pathogenic
19	49599934	TC	T	C49599937G	PRR12	NM_020719.3(PRR12):c.4344del:p.Glu1449fs	coding	Pathogenic
19	49601819	TGG	GC	T49601819G	PRR12	NM_020719.3(PRR12):c.4674_4676delinsGC:p.Cys1558fs	coding	Pathogenic
19	49712772	ATCCCT	A	T49712773G	CPT1C	NM_001199753.2(CPT1C):c.2057_2061del:p.Ile686fs	coding	Pathogenic
19	49712860	C	CA	T49712861A	CPT1C	NM_001199753.2(CPT1C):c.2133+11_2133+12insA	noncoding	Benign
19	49712861	T	TG	C49712865G	CPT1C	NM_001199753.2(CPT1C):c.2133+15dup	noncoding	Benign
19	49828421	CT	C	T49828422G	MED25	NM_030973.4(MED25):c.306-27del	noncoding	Benign
19	49829101	CAGGGTCTGAGGGACG	C	A49829110G	MED25	NM_030973.4(MED25):c.525+20_525+34del	noncoding	Benign
19	49831926	T	TC	T49831932C	MED25	NM_030973.4(MED25):c.1231-5dup	noncoding	Benign
19	49832092	GC	G	C49832097A	MED25	NM_030973.4(MED25):c.1317-3del	coding	Benign
19	49861270	T	TA	C49861272A	PNKP	NM_007254.4(PNKP):c.1543dup:p.Tyr515fs	coding	Pathogenic
19	49861500	ATC	A	T49861505G	PNKP	NM_007254.4(PNKP):c.1395_1396del:p.Glu465fs	coding	Pathogenic
19	49861514	TG	T	G49861518A	PNKP	NM_007254.4(PNKP):c.1387-5del	noncoding	Benign
19	49861514	T	TG	A49861519G	PNKP	NM_007254.4(PNKP):c.1387-5dup	noncoding	Benign
19	49861557	A	AG	T49861564G	PNKP	NM_007254.4(PNKP):c.1387-48dup	noncoding	Benign
19	49861557	AG	A	G49861563T	PNKP	NM_007254.4(PNKP):c.1387-48del	noncoding	Benign
19	49861690	ACGTACCTGTG	A	C49861691G	PNKP	NM_007254.4(PNKP):c.1299-5_1303del	coding	Pathogenic
19	49861775	GCGCGGCT	G	T49861782G	PNKP	NM_007254.4(PNKP):c.1288_1294del:p.Ser430fs	coding	Pathogenic/Likely_pathogenic
19	49861778	CGGCTCGCGGCGTCT	C	C49861781G	PNKP	NM_007254.4(PNKP):c.1278_1291del:p.Asp427fs	coding	Pathogenic/Likely_pathogenic
19	49861786	G	GGCGTCTGGGTTTGT	T49861802C	PNKP	NM_007254.4(PNKP):c.1270_1283dup:p.Ala429fs	coding	Pathogenic
19	49861841	TCA	T	A49861845G	PNKP	NM_007254.4(PNKP):c.1227_1228del:p.Cys409_Glu410delinsTer	coding	Pathogenic
19	49862111	T	TG	C49862118G	PNKP	NM_007254.4(PNKP):c.1127-7dup	noncoding	Benign
19	49862292	CG	C	G49862297A	PNKP	NM_007254.4(PNKP):c.1030-12del	noncoding	Benign
19	49862415	GA	G	A49862418G	PNKP	NM_007254.4(PNKP):c.984del:p.Leu329fs	coding	Pathogenic
19	49862707	TC	T	C49862711G	PNKP	NM_007254.4(PNKP):c.847del:p.Asp283fs	coding	Pathogenic
19	49863744	TGCGTG	T	G49863747C	PNKP	NM_007254.4(PNKP):c.756_760del:p.Thr253fs	coding	Pathogenic
19	49867141	T	TG	C49867148G	PNKP	NM_007254.4(PNKP):c.63dup:p.Ile22fs	coding	Pathogenic/Likely_pathogenic
19	49867589	CGTGG	C	T49867595G	PNKP	Single_allele	noncoding	Benign
19	50226790	TG	T	G50226797C	MYH14	NM_001145809.2(MYH14):c.811-106del	noncoding	Benign
19	50231734	T	TAGAG	C50231740G	MYH14	NM_001145809.2(MYH14):c.974-195AG[4]	noncoding	Benign
19	50231933	AC	A	C50231935T	MYH14	NM_001145809.2(MYH14):c.979del:p.Leu327fs	coding	Pathogenic
19	50244479	ATT	A	T50244500G	MYH14	NM_001145809.2(MYH14):c.1210+163_1210+164del	noncoding	Benign
19	50244479	ATTT	A	T50244499G	MYH14	NM_001145809.2(MYH14):c.1210+162_1210+164del	noncoding	Benign
19	50244479	ATTTT	A	T50244498G	MYH14	NM_001145809.2(MYH14):c.1210+161_1210+164del	noncoding	Benign
19	50247094	ATG	A	T50247097C	MYH14	NM_001145809.2(MYH14):c.1304_1305del:p.Val435fs	coding	Pathogenic
19	50249558	A	ATCTCTGTCCCCTGTCTCTGGG	T50249611C	MYH14	NM_001145809.2(MYH14):c.1483-91TCTCTGTCCCCTGTCTCTGGG[3]	noncoding	Benign
19	50260748	C	CGT	C50260762T	MYH14	NM_001145809.2(MYH14):c.2424+34GT[7]	noncoding	Benign
19	50260748	C	CGTGT	C50260762T	MYH14	NM_001145809.2(MYH14):c.2424+34GT[8]	noncoding	Benign
19	50260760	T	TGC	T50260764C	MYH14	NM_001145809.2(MYH14):c.2424+47_2424+48dup	noncoding	Benign
19	50260762	CGTGCATGAGTGT	C	T50260764C	MYH14	NM_001145809.2(MYH14):c.2424+49_2424+60del	noncoding	Benign
19	50260782	T	TGA	T50260784A	MYH14	NM_001145809.2(MYH14):c.2424+68_2424+69insAG	noncoding	Benign
19	50260822	A	AGT	C50260832T	MYH14	NM_001145809.2(MYH14):c.2424+108GT[5]	noncoding	Benign
19	50268040	G	GC	T50268045C	MYH14	NM_001145809.2(MYH14):c.2827-117dup	noncoding	Benign
19	50276640	TA	T	A50276642C	MYH14	NM_001145809.2(MYH14):c.3681-115del	noncoding	Benign
19	50292515	CT	C	T50292516G	MYH14	NM_001145809.2(MYH14):c.5256+127del	noncoding	Benign
19	50292515	CTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCT	C	T50292516G	MYH14	NM_001145809.2(MYH14):c.5256+127_5256+172del	noncoding	Benign
19	50309668	AC	A	C50309669G	MYH14	NM_001145809.2(MYH14):c.5990del:p.Thr1997fs	coding	Pathogenic
19	50398570	C	CAA	G50398593A	POLD1	NM_002691.4(POLD1):c.-1-260_-1-259dup	noncoding	Benign
19	50398570	C	CA	G50398593A	POLD1	NM_002691.4(POLD1):c.-1-259dup	noncoding	Benign
19	50398917	C	CG	T50398918G	POLD1	NM_002691.4(POLD1):c.66_67insG:p.Trp23fs	coding	Pathogenic
19	50401769	A	AC	A50401774C	POLD1	NM_002691.4(POLD1):c.317-5dup	noncoding	Benign
19	50402133	TC	T	C50402138A	POLD1	NM_002691.4(POLD1):c.589+14del	noncoding	Benign
19	50408690	A	AT	A50408703T	POLD1	NM_002691.4(POLD1):c.1776-83dup	noncoding	Benign
19	50409500	TC	T	C50409504G	POLD1	NM_002691.4(POLD1):c.2007-15del	noncoding	Benign
19	50417198	GC	G	C50417199G	POLD1	NM_002691.4(POLD1):c.3148del:p.Arg1050fs	coding	Pathogenic
19	50417671	TC	T	C50417681A	POLD1	NM_002691.4(POLD1):c.3219-161del	noncoding	Benign
19	50417676	CCCCCCA	C	A50417682C	POLD1	NM_002691.4(POLD1):c.3219-160_3219-155del	noncoding	Benign
19	50417678	CCCCA	C	A50417682C	POLD1	NM_002691.4(POLD1):c.3219-160_3219-157del	noncoding	Benign
19	50417681	CA	C	A50417682C	POLD1	NM_002691.4(POLD1):c.3219-160del	noncoding	Benign
19	50417828	GC	G	C50417833A	POLD1	NM_002691.4(POLD1):c.3219-9del	noncoding	Benign
19	50476607	GC	G	C50476610A	EMC10	NM_206538.4(EMC10):c.66del:p.Ser23fs	coding	Pathogenic
19	50479052	CG	C	G50479056C	EMC10	NM_206538.4(EMC10):c.287del:p.Gly96fs	coding	Pathogenic
19	50480720	T	TC	A50480722C	EMC10	NM_206538.4(EMC10):c.543dup:p.Asn182fs	coding	Pathogenic
19	50909109	TG	T	G50909113C	KLK4	NM_004917.5(KLK4):c.224+142del	noncoding	Benign
19	50910958	AAG	A	G50910974A	KLK4	Single_allele	noncoding	Benign
19	51350340	C	CAAGAAATCCAGCTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCTAGAGGTCAGGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A51350357G	ETFB	NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT:p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer	coding	Pathogenic
19	51353213	GCGTTCTGCTT	G	G51353215T	ETFB	NM_001985.3(ETFB):c.284_293del:p.Glu95fs	coding	Pathogenic
19	51386853	ATCTC	A	C51386857A	LIM2	NM_001161748.2(LIM2):c.175+412_175+415del	noncoding	Benign
19	52222257	T	TC	A52222263C	PPP2R1A	NM_014225.6(PPP2R1A):c.1661+21dup	noncoding	Benign
19	53798229	TC	T	C53798233G	NLRP12	NM_144687.4(NLRP12):c.2927+13del	noncoding	Benign
19	53801094	C	CA	G53801111A	NLRP12	NM_144687.4(NLRP12):c.2756+117dup	noncoding	Benign
19	53805521	C	CT	C53805536T	NLRP12	NM_144687.4(NLRP12):c.2244-85dup	noncoding	Benign
19	53805521	C	CTT	C53805536T	NLRP12	NM_144687.4(NLRP12):c.2244-85_2244-84dup	noncoding	Benign
19	53889424	G	GT	C53889436T	PRKCG	NM_002739.5(PRKCG):c.286-203dup	noncoding	Benign
19	53892749	T	TGC	A53892754G	PRKCG	NM_002739.5(PRKCG):c.821+107GC[3]	noncoding	Benign
19	53892752	GCACA	G	A53892778G	PRKCG	NM_002739.5(PRKCG):c.821+110CA[12]	noncoding	Benign
19	53892752	G	GCA	G53892782A	PRKCG	NM_002739.5(PRKCG):c.821+110CA[15]	noncoding	Benign
19	53892772	A	ACG	A53892774G	PRKCG	NM_002739.5(PRKCG):c.821+130_821+131insGC	noncoding	Benign
19	53892786	ACACACG	A	G53892792A	PRKCG	NM_002739.5(PRKCG):c.821+149_821+154del	noncoding	Benign
19	53892792	G	GCACA	C53892800A	PRKCG	NM_002739.5(PRKCG):c.821+150CA[5]	noncoding	Benign
19	53893150	CCT	C	C53893151G	PRKCG	NM_002739.5(PRKCG):c.909+76_909+77del	noncoding	Benign
19	53897741	GA	G	A53897748G	PRKCG	NM_002739.5(PRKCG):c.940-211del	noncoding	Benign
19	53898788	GGGGT	G	G53898789C	PRKCG	NM_002739.5(PRKCG):c.1281+161_1281+164del	noncoding	Benign
19	53904781	A	AT	C53904782T	PRKCG	NM_002739.5(PRKCG):c.1764+39_1764+40insT	noncoding	Benign
19	54118428	CATCGCCA	C	T54118430G	PRPF31	NM_015629.4(PRPF31):c.152_158del:p.Ile51fs	coding	Pathogenic
19	54118453	AT	A	T54118454G	PRPF31	NM_015629.4(PRPF31):c.176del:p.Met59fs	coding	Pathogenic
19	54118454	TG	T	G54118456T	PRPF31	NM_015629.4(PRPF31):c.177+1del	coding	Pathogenic
19	54118598	AG	A	G54118600A	PRPF31	NM_015629.4(PRPF31):c.205del:p.Glu69fs	coding	Pathogenic
19	54121876	GGCCGCGCCTGAAT	G	G54121877A	PRPF31	NM_015629.4(PRPF31):c.256_268del:p.Ala86fs	coding	Pathogenic
19	54121937	GA	G	A54121938G	PRPF31	NM_015629.4(PRPF31):c.317del:p.Glu106fs	coding	Pathogenic
19	54122515	TC	T	C54122517G	PRPF31	NM_015629.4(PRPF31):c.343del:p.Arg115fs	coding	Pathogenic
19	54122530	CAA	C	A54122532G	PRPF31	NM_015629.4(PRPF31):c.358_359del:p.Lys120fs	coding	Pathogenic
19	54122530	C	CA	G54122534A	PRPF31	NM_015629.4(PRPF31):c.359dup:p.Arg121fs	coding	Pathogenic
19	54122560	TC	T	C54122564A	PRPF31	NM_015629.4(PRPF31):c.390del:p.Asn131fs	coding	Pathogenic
19	54122568	GC	G	C54122569A	PRPF31;PRPF31-AS1	NM_015629.4(PRPF31):c.395del:p.Ala132fs	coding	Pathogenic
19	54122587	CG	C	G54122589T	PRPF31	NM_015629.4(PRPF31):c.415del:p.Val139fs	coding	Pathogenic
19	54123477	G	GT	G54123479T	PRPF31	NM_015629.4(PRPF31):c.445dup:p.Cys149fs	coding	Pathogenic
19	54123486	CA	C	A54123488T	PRPF31	NM_015629.4(PRPF31):c.455del:p.Asn152fs	coding	Pathogenic
19	54123702	CCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTG	C	G54123710C	PRPF31	NM_015629.4(PRPF31):c.528-39_531del	noncoding	Pathogenic
19	54123766	A	AGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACAT	C54123802A	PRPF31	NM_015629.4(PRPF31):c.548_580dup:p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet	coding	Pathogenic
19	54123769	AGCTGG	A	G54123770A	PRPF31	NM_015629.4(PRPF31):c.549_553del:p.Leu184fs	coding	Pathogenic
19	54123858	TC	T	C54123860T	PRPF31	NM_015629.4(PRPF31):c.639del:p.Phe214fs	coding	Pathogenic
19	54124626	CCA	C	C54124629G	PRPF31	NM_015629.4(PRPF31):c.828_829del:p.His276fs	coding	Pathogenic
19	54126537	CGGAAAGCGGCCCGG	C	G54126538C	PRPF31	NM_015629.4(PRPF31):c.866_879del:p.Arg289fs	coding	Pathogenic
19	54126592	G	GT	C54126596T	PRPF31	NM_015629.4(PRPF31):c.923dup:p.His309fs	coding	Pathogenic
19	54128166	CT	C	T54128167G	PRPF31	NM_015629.4(PRPF31):c.1040del:p.Leu347fs	coding	Pathogenic/Likely_pathogenic
19	54128192	CG	C	G54128194C	PRPF31	NM_015629.4(PRPF31):c.1067del:p.Gly356fs	coding	Pathogenic
19	54128344	CCGGAAGCAGGCCAACCGTATGAGCTT	C	A54128349G	PRPF31	NM_015629.4(PRPF31):c.1118_1143del:p.Lys373fs	coding	Pathogenic
19	54128347	G	GA	G54128350A	PRPF31	NM_015629.4(PRPF31):c.1118dup:p.Gln374fs	coding	Pathogenic
19	54128348	AAGCAGGCCAACCGTATG	A	A54128352T	PRPF31	NM_015629.4(PRPF31):c.1121_1137del:p.Gln374fs	coding	Pathogenic
19	54128357	AACCGTAT	A	A54128358G	PRPF31	NM_015629.4(PRPF31):c.1127_1133del:p.Asn376fs	coding	Pathogenic
19	54129047	T	TC	T54129054C	PRPF31	NM_015629.4(PRPF31):c.1147-4dup	noncoding	Benign
19	54129066	GACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAG	CCCAGATCGCAGCCTCCCTGCAGAAGCAGAGCGTCTTGGAGATCCTGGCCTTGGTGGCCTCGTTTACCTGTGTCTGCCGCACACGCCCACTGCCCGACTTGCCCAGGTGGCCCAGGCTGAATCCCAGGTCCTCCTGGTAGGCGTCCTCCT	G54129066C	PRPF31	NM_015629.4(PRPF31):c.1156_1295del140insCCCAGATCGCAGCCTCCCTGCAGAAGCAGAGCGTCTTGGAGATCCTGGCCTTGGTGGCCTCGTTTACCTGTGTCTGCCGCACACGCCCACTGCCCGACTTGCCCAGGTGGCCCAGGCTGAATCCCAGGTCCTCCTGGTAGGCGTCCTCCT:p.Asp386_Ser432delinsProArgSerGlnProProCysArgSerArgAlaSerTrpArgSerTrpProTrpTrpProArgLeuProValSerAlaAlaHisAlaHisCysProThrCysProGlyGlyProGlyTer	coding	Pathogenic
19	54129102	CA	C	A54129103C	PRPF31	NM_015629.4(PRPF31):c.1193del:p.His398fs	coding	Pathogenic
19	54129121	GT	G	T54129122G	PRPF31	NM_015629.4(PRPF31):c.1212del:p.Ser404fs	coding	Pathogenic
19	54148181	AGCAACCAGCAC	A	G54148182C	CNOT3	NM_014516.4(CNOT3):c.929_939del:p.Ser310fs	coding	Pathogenic
19	54148494	G	GC	A54148496C	CNOT3	NM_014516.4(CNOT3):c.1242dup:p.Ser415fs	coding	Pathogenic
19	54148704	GC	G	C54148710T	CNOT3	NM_014516.4(CNOT3):c.1373del:p.Pro458fs	coding	Pathogenic
19	54152897	G	GC	T54152904C	CNOT3	NM_014516.4(CNOT3):c.1941dup:p.Tyr648fs	coding	Pathogenic
19	54193005	C	CAAAAAAAAA	G54193021A	TSEN34	NM_001077446.4(TSEN34):c.746-163_746-155dup	noncoding	Benign
19	54193005	C	CAAAAAAAA	G54193021A	TSEN34	NM_001077446.4(TSEN34):c.746-162_746-155dup	noncoding	Benign
19	54193005	C	CAAAAAAA	G54193021A	TSEN34	NM_001077446.4(TSEN34):c.746-161_746-155dup	noncoding	Benign
19	54939866	T	TAGATCGGCTGCTGC	G54939881A	NLRP7	NM_001127255.2(NLRP7):c.939_952dup:p.Tyr318Cysfs	coding	Pathogenic
19	55133680	TA	T	A55133695G	TNNT1	NM_003283.6(TNNT1):c.791+206del	noncoding	Benign
19	55133680	T	TA	G55133696A	TNNT1	NM_003283.6(TNNT1):c.791+192dup	noncoding	Benign
19	55140808	A	AATAATC	A55140814C	TNNT1	NM_003283.6(TNNT1):c.387+74_387+75insATTATG	noncoding	Benign
19	55146461	CG	C	G55146466C	TNNT1	NM_003283.6(TNNT1):c.78del:p.Glu27fs	coding	Pathogenic
19	55146473	A	AG	A55146478G	TNNT1	NM_003283.6(TNNT1):c.74-8dup	noncoding	Benign
19	55152171	TTC	T	C55152173G	TNNI3	NM_000363.5(TNNI3):c.550-256_550-255del	noncoding	Benign
19	55154029	CCTT	C	T55154032C	TNNI3	NM_000363.5(TNNI3):c.547_549del:p.Lys183del	noncoding	Pathogenic
19	55156184	TC	AA	T55156184A	TNNI3	NM_000363.5(TNNI3):c.282+16_282+17delinsTT	noncoding	Benign/Likely_benign
19	55159575	GC	G	C55159579A	DNAAF3	NM_001256715.2(DNAAF3):c.1195del:p.Ala399fs	coding	Pathogenic
19	55159722	TG	T	G55159726A	DNAAF3	NM_001256715.2(DNAAF3):c.1164-116del	noncoding	Benign
19	55159766	GAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCA	G	C55159789T	DNAAF3	NM_001256715.2(DNAAF3):c.1163+96_1163+132del	noncoding	Benign
19	55160605	AGTCCCTGGCTTACCTGTTGTT	A	T55160622G	DNAAF3	NM_001256715.2(DNAAF3):c.1048+14_1048+34del	noncoding	Benign
19	55161694	GGCGTCGTAGCGGGA	G	G55161697C	DNAAF3	NM_001256715.2(DNAAF3):c.598_611del:p.Ser200fs	coding	Pathogenic
19	55161747	T	TCATGGGGAACG	C55161760A	DNAAF3	NM_001256715.2(DNAAF3):c.548_558dup:p.Ser187delinsArgSerProTer	coding	Pathogenic/Likely_pathogenic
19	55162123	GCGGCGGCA	G	G55162125C	DNAAF3	NM_001256715.2(DNAAF3):c.480+2_480+9del	noncoding	Pathogenic
19	55162235	C	CA	C55162237A	DNAAF3	NM_001256715.2(DNAAF3):c.377dup:p.Ala127fs	coding	Pathogenic
19	55165923	CAG	C	A55165926C	DNAAF3	NM_001256715.2(DNAAF3):c.161_162del:p.Ser54fs	coding	Pathogenic
19	55167028	GC	G	C55167031G	DNAAF3	Single_allele	noncoding	Benign
19	57231125	AGGACGAGCAGGATT	A	C57231129A	AURKC	NM_001015878.2(AURKC):c.-120_-107del	coding	Benign
20	417395	TTG	T	T417422C	RBCK1	NM_031229.4(RBCK1):c.168-130TG[13]	noncoding	Benign
20	419398	GC	G	C419404A	RBCK1	NM_031229.4(RBCK1):c.518del:p.Pro173fs	coding	Pathogenic
20	419557	GGTGGGCTGGCA	G	G419561C	RBCK1	NM_031229.4(RBCK1):c.586_596del:p.Gly196fs	noncoding	Pathogenic
20	419634	GC	G	C419638G	RBCK1	NM_031229.4(RBCK1):c.663del:p.Glu222fs	coding	Pathogenic
20	419664	AC	A	C419666A	RBCK1	NM_031229.4(RBCK1):c.691del:p.Gln231fs	coding	Pathogenic
20	419698	G	GAGCCCGACCAGCCC	G419699A	RBCK1	NM_031229.4(RBCK1):c.723_724insAGCCCGACCAGCCC:p.Gly242fs	coding	Pathogenic
20	419860	AGTGACCCTGCACCTGGCT	A	C419885T	RBCK1	NM_031229.4(RBCK1):c.756+154_756+171del	noncoding	Benign
20	419864	ACCCTGCACCTGGCTGTG	A	C419865A	RBCK1	NM_031229.4(RBCK1):c.756+134_756+150del	noncoding	Benign
20	420929	G	GC	T420932C	RBCK1	NM_031229.4(RBCK1):c.817dup:p.Leu273fs	coding	Pathogenic
20	422198	ACTCGTG	A	T422203G	RBCK1	NM_031229.4(RBCK1):c.994_999del:p.Cys332_Ser333del	coding	Pathogenic
20	422327	C	CT	G422340T	RBCK1	NM_031229.4(RBCK1):c.1029+101dup	noncoding	Benign
20	428538	C	CCT	G428541C	RBCK1	NM_031229.4(RBCK1):c.1258_1259dup:p.Arg421fs	coding	Pathogenic/Likely_pathogenic
20	430361	CA	C	A430362C	RBCK1	NM_031229.4(RBCK1):c.1465del:p.Thr489fs	coding	Pathogenic
20	430417	AGAACT	A	A430419C	RBCK1	NM_031229.4(RBCK1):c.1522_1526del:p.Asn508fs	coding	Pathogenic/Likely_pathogenic
20	440707	TTACC	T	T440708C	TBC1D20	NM_144628.4(TBC1D20):c.627-322_627-319del	noncoding	Benign
20	462202	C	CCT	G462208T	TBC1D20	NM_144628.4(TBC1D20):c.70+130AG[3]	noncoding	Benign
20	483804	AT	A	T483814A	CSNK2A1	NM_177559.3(CSNK2A1):c.*156del	noncoding	Benign
20	487227	CTT	C	T487228G	CSNK2A1	NM_177559.3(CSNK2A1):c.973+198_973+199del	noncoding	Benign
20	489962	T	TA	T489972A	CSNK2A1	NM_177559.3(CSNK2A1):c.622-90dup	noncoding	Benign
20	497770	TG	T	G497772T	CSNK2A1	NM_177559.3(CSNK2A1):c.376del:p.Gln126fs	coding	Pathogenic
20	499958	CAA	C	A499975T	CSNK2A1	NM_177559.3(CSNK2A1):c.214-26_214-25del	noncoding	Benign
20	499958	CA	C	A499976T	CSNK2A1	NM_177559.3(CSNK2A1):c.214-25del	noncoding	Benign
20	508814	TATAAC	T	A508817G	CSNK2A1	NM_177559.3(CSNK2A1):c.-109-159_-109-155del	noncoding	Benign
20	765290	C	CCGGA	G765295C	SLC52A3	NM_033409.4(SLC52A3):c.481_484dup:p.Gly162fs	coding	Pathogenic
20	765689	AG	A	G765693C	SLC52A3	NM_033409.4(SLC52A3):c.85del:p.Leu29fs	coding	Pathogenic
20	2395639	AG	A	G2395640T	TGM6	NM_198994.3(TGM6):c.424+204del	noncoding	Benign
20	2417324	G	GTCTCT	G2417325T	TGM6	NM_198994.3(TGM6):c.1429_1430insTCTCT:p.Gly477fs	coding	Pathogenic
20	2431233	CTCAG	C	G2431237T	TGM6	NM_198994.3(TGM6):c.1967+210_1967+213del	noncoding	Benign
20	2432732	TC	T	C2432733A	TGM6	NM_198994.3(TGM6):c.*90del	noncoding	Benign
20	2467927	CCT	C	C2467928G	SNRPB	NM_003091.4(SNRPB):c.4-171_4-170del	noncoding	Benign
20	2659006	ACTC	A	C2659010T	IDH3B	NM_006899.5(IDH3B):c.1072-172_1072-170del	noncoding	Benign
20	2860242	AAGAGTGGACCCGTGG	GAGAGC	A2860242G	VPS16	NM_022575.4(VPS16):c.244_259delinsGAGAGC:p.Lys82fs	coding	Pathogenic
20	2862599	C	CGA	T2862603A	VPS16	NM_022575.4(VPS16):c.1094_1095dup:p.Tyr366fs	coding	Pathogenic
20	3082941	G	GC	A3082950C	AVP	NM_000490.5(AVP):c.322+28dup	noncoding	Benign
20	3082941	G	GCC	A3082950C	AVP	NM_000490.5(AVP):c.322+28_322+29dup	noncoding	Benign
20	3084608	GGAA	G	A3084610T	AVP	NM_000490.5(AVP):c.64_66del:p.Phe22del	coding	Pathogenic
20	3084671	GC	G	C3084672A	AVP	NM_000490.5(AVP):c.3del:p.Met1fs	coding	Pathogenic
20	3200120	TA	T	A3200121G	DDRGK1	NM_023935.3(DDRGK1):c.409-19del	noncoding	Benign
20	3215263	CCTTT	C	T3215270C	ITPA	NM_033453.4(ITPA):c.264-11_264-8del	noncoding	Benign
20	3218578	A	ACTCAGCAC	G3218588T	ITPA	NM_033453.4(ITPA):c.359_366dup:p.Gly123fs	coding	Pathogenic/Likely_pathogenic
20	3218631	CG	C	G3218633T	ITPA	NM_033453.4(ITPA):c.411+1del	coding	Pathogenic
20	3223357	AC	A	C3223361T	ITPA	NM_033453.4(ITPA):c.489-5del	noncoding	Benign
20	3228414	C	CG	T3228421G	SLC4A11	NM_001174089.2(SLC4A11):c.2402dup:p.Thr802fs	coding	Pathogenic
20	3228533	C	CA	C3228535A	SLC4A11	NM_001174089.2(SLC4A11):c.2366dup:p.Ala790fs	coding	Pathogenic
20	3228572	CGCGATGTAGAG	C	C3228574A	SLC4A11	NM_001174089.2(SLC4A11):c.2317_2327del:p.Leu773fs	coding	Pathogenic
20	3228837	C	CGTGTCATA	A3228847T	SLC4A11	NM_001174089.2(SLC4A11):c.2185_2192dup:p.Ile732fs	noncoding	Pathogenic
20	3228937	CCAAA	C	A3228940G	SLC4A11	NM_001174089.2(SLC4A11):c.2089_2092del:p.Phe697fs	coding	Pathogenic
20	3229197	AG	A	G3229200A	SLC4A11	NM_001174089.2(SLC4A11):c.1915del:p.Ser638_Leu639insTer	coding	Pathogenic
20	3229400	T	TGGGCA	G3229410A	SLC4A11	NM_001174089.2(SLC4A11):c.1790_1794dup:p.Ile599fs	coding	Pathogenic
20	3229548	T	TAGCCCAGCAA	C3229557A	SLC4A11	NM_001174089.2(SLC4A11):c.1717_1718insTTGCTGGGCT:p.Tyr573fs	coding	Pathogenic
20	3229633	TG	T	G3229637C	SLC4A11	NM_001174089.2(SLC4A11):c.1632del:p.Thr545fs	coding	Pathogenic
20	3231066	TG	T	G3231071A	SLC4A11	NM_001174089.2(SLC4A11):c.1043-9del	noncoding	Benign
20	3231075	GGA	G	A3231081G	SLC4A11	NM_001174089.2(SLC4A11):c.1043-23TC[2]	noncoding	Benign
20	3231237	TG	T	G3231242C	SLC4A11	NM_001174089.2(SLC4A11):c.953del:p.Pro318fs	coding	Pathogenic
20	3231365	TG	T	G3231366C	SLC4A11	NM_001174089.2(SLC4A11):c.912del:p.Ser305fs	coding	Pathogenic
20	3231576	T	TG	A3231577G	SLC4A11	NM_001174089.2(SLC4A11):c.730-29_730-28insC	noncoding	Benign
20	3233542	ACGAAC	A	G3233549T	SLC4A11	NM_001174089.2(SLC4A11):c.696_700del:p.Phe233fs	coding	Pathogenic
20	3233573	A	AG	T3233575G	SLC4A11	NM_001174089.2(SLC4A11):c.669dup:p.Trp224fs	coding	Pathogenic
20	3233950	CA	C	A3233951C	SLC4A11	NM_001174089.2(SLC4A11):c.575del:p.Val192fs	coding	Pathogenic
20	3234093	C	CA	T3234095A	SLC4A11	NM_001174089.2(SLC4A11):c.512dup:p.Met171fs	coding	Pathogenic
20	3234172	C	CGGGCGAAG	T3234173G	SLC4A11	NM_001174089.2(SLC4A11):c.433_434insCTTCGCCC:p.Arg145fs	coding	Pathogenic
20	3234172	CTGGCGAAG	C	T3234173C	SLC4A11	NM_001174089.2(SLC4A11):c.426_433del:p.Phe143fs	coding	Pathogenic
20	3234173	T	TGGCGAAGC	A3234190G	SLC4A11	NM_001174089.2(SLC4A11):c.425_432dup:p.Arg145fs	coding	Pathogenic
20	3234778	CA	C	A3234785C	SLC4A11	NM_001174089.2(SLC4A11):c.204del:p.Phe68fs	coding	Pathogenic
20	3234843	AG	A	G3234845A	SLC4A11	NM_001174089.2(SLC4A11):c.139del:p.Leu47fs	coding	Pathogenic
20	3237661	GCCCCCCGA	G	C3237664T	SLC4A11	NM_001174089.2(SLC4A11):c.44-81_44-74del	coding	Pathogenic
20	3237661	G	GC	G3237668C	SLC4A11	NM_001174089.2(SLC4A11):c.44-74dup	coding	Pathogenic
20	3572956	G	GT	C3572966T	ATRN	NM_139321.3(ATRN):c.2092+14dup	noncoding	Benign
20	3596361	CT	C	T3596367C	ATRN	NM_139321.3(ATRN):c.3417-10del	noncoding	Benign
20	3907943	C	CT	G3907945T	PANK2	NM_001386393.1(PANK2):c.317dup:p.Asp107fs	coding	Pathogenic
20	3908067	C	CCT	T3908068C	PANK2	NM_001386393.1(PANK2):c.440_441insCT:p.Tyr148fs	coding	Pathogenic
20	3910295	G	GT	G3910308T	PANK2	NM_001386393.1(PANK2):c.652-270dup	noncoding	Benign
20	3910295	G	GTT	G3910308T	PANK2	NM_001386393.1(PANK2):c.652-271_652-270dup	noncoding	Benign
20	3910304	T	TG	T3910305G	PANK2	NM_001386393.1(PANK2):c.652-273_652-272insG	noncoding	Benign
20	3912354	ATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTT	A	G3912359T	PANK2	NM_001386393.1(PANK2):c.906-99_929del	noncoding	Pathogenic
20	3916912	T	TTCCCCC	T3916914C	PANK2	NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT	noncoding	Benign/Likely_benign
20	3916927	CT	C	T3916930G	PANK2	NM_001386393.1(PANK2):c.1086del:p.Phe362fs	coding	Pathogenic
20	3918362	G	GT	G3918372T	PANK2	NM_001386393.1(PANK2):c.1207-300dup	noncoding	Benign
20	3918652	C	CT	G3918660T	PANK2	NM_001386393.1(PANK2):c.1207-12dup	noncoding	Benign
20	3923253	GGAGCTGTTGGAGCACTCCTT	G	G3923263A	PANK2	NM_001386393.1(PANK2):c.1352_1371del:p.Gly451fs	coding	Pathogenic
20	5101105	CA	C	A5101109T	TMEM230	NM_001009923.2(TMEM230):c.412-175del	noncoding	Benign
20	6077394	GA	G	A6077403G	FERMT1	NM_017671.5(FERMT1):c.1861-49del	noncoding	Benign
20	6087757	ATT	A	T6087761G	FERMT1	NM_017671.5(FERMT1):c.1371+18_1371+19del	noncoding	Benign
20	6087870	CA	C	A6087871C	FERMT1	NM_017671.5(FERMT1):c.1277del:p.Val426fs	coding	Pathogenic
20	6088105	T	TAAATC	A6088109T	FERMT1	NM_017671.5(FERMT1):c.1265-223_1265-222insTTTGA	noncoding	Benign
20	6096782	C	CT	C6096802T	FERMT1	NM_017671.5(FERMT1):c.1089+101dup	noncoding	Benign
20	6096782	CT	C	T6096801C	FERMT1	NM_017671.5(FERMT1):c.1089+119del	noncoding	Benign
20	6097078	TTATAAA	T	A6097086G	FERMT1	NM_017671.5(FERMT1):c.958-51_958-46del	noncoding	Benign
20	6097790	C	CT	A6097800T	FERMT1	NM_017671.5(FERMT1):c.850-168dup	noncoding	Benign
20	6107199	CAAA	C	A6107219G	FERMT1	NM_017671.5(FERMT1):c.849+330_849+332del	noncoding	Benign
20	6107199	CAA	C	A6107220G	FERMT1	NM_017671.5(FERMT1):c.849+331_849+332del	noncoding	Benign
20	6107199	CA	C	A6107221G	FERMT1	NM_017671.5(FERMT1):c.849+332del	noncoding	Benign
20	6110365	A	AC	T6110367C	FERMT1	NM_017671.5(FERMT1):c.678dup:p.Ser227fs	coding	Pathogenic
20	6119652	CT	C	T6119658G	FERMT1	NM_017671.5(FERMT1):c.-18-81del	noncoding	Benign
20	6770183	CGGCG	C	G6770184C	BMP2	NM_001200.4(BMP2):c.58_61del:p.Gly20fs	coding	Pathogenic
20	6770319	CAG	C	G6770323C	BMP2	NM_001200.4(BMP2):c.197_198del:p.Arg66fs	coding	Pathogenic
20	6779111	AAT	A	A6779130T	BMP2	NM_001200.4(BMP2):c.*23AT[9]	noncoding	Benign
20	8684855	GAA	G	A8684869G	PLCB1	NM_015192.4(PLCB1):c.863-63_863-62del	noncoding	Benign
20	8684855	GA	G	A8684870G	PLCB1	NM_015192.4(PLCB1):c.863-62del	noncoding	Benign
20	8685033	CT	C	T8685036C	PLCB1	NM_015192.4(PLCB1):c.967del:p.Ser323fs	coding	Pathogenic
20	8685317	CCA	C	A8685319G	PLCB1	NM_015192.4(PLCB1):c.1009+241_1009+242del	noncoding	Benign
20	8722161	G	GA	T8722168A	PLCB1	NM_015192.4(PLCB1):c.1514-187dup	noncoding	Benign
20	8733410	CA	C	A8733414T	PLCB1	NM_015192.4(PLCB1):c.2043+22del	noncoding	Benign
20	8760413	TA	T	A8760416G	PLCB1	NM_015192.4(PLCB1):c.2666del:p.Lys889fs	coding	Pathogenic
20	8760476	TC	T	C8760482A	PLCB1	NM_015192.4(PLCB1):c.2710+22del	noncoding	Benign
20	8774256	GATT	G	A8774263C	PLCB1	NM_015192.4(PLCB1):c.2931-282ATT[2]	noncoding	Benign
20	8802265	A	AT	C8802267T	PLCB1	NM_015192.4(PLCB1):c.3423+12005dup	noncoding	Benign
20	8881328	C	CGT	C8881360T	PLCB1	NM_015192.4(PLCB1):c.3424-293GT[16]	noncoding	Benign
20	8881328	C	CGTGT	C8881360T	PLCB1	NM_015192.4(PLCB1):c.3424-293GT[17]	noncoding	Benign
20	8881328	C	CGTGTGT	C8881360T	PLCB1	NM_015192.4(PLCB1):c.3424-293GT[18]	noncoding	Benign
20	8881328	C	CGTGTGTGT	C8881360T	PLCB1	NM_015192.4(PLCB1):c.3424-293GT[19]	noncoding	Benign
20	8881328	CGTGT	C	T8881356C	PLCB1	NM_015192.4(PLCB1):c.3424-293GT[13]	noncoding	Benign
20	8881358	T	TGTGTGTGTGTGC	C8881360T	PLCB1	NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGTGCG	noncoding	Benign
20	8881358	T	TGTGTGTGTGTGTGC	C8881360T	PLCB1	NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGTGTGCG	noncoding	Benign
20	8881510	A	AAGTT	A8881516G	PLCB1	NM_015192.4(PLCB1):c.3424-110_3424-107dup	noncoding	Benign
20	9408454	G	GTGGC	A9408455T	PLCB4	NM_001377142.1(PLCB4):c.1790-179_1790-178insTGGC	noncoding	Benign
20	9409333	T	TA	C9409347A	PLCB4	NM_001377142.1(PLCB4):c.1999+165dup	noncoding	Benign
20	9473251	AG	A	G9473252A	PLCB4	NM_001377142.1(PLCB4):c.3409-27del	noncoding	Benign
20	9473254	ATT	A	T9473273G	PLCB4	NM_001377142.1(PLCB4):c.3409-6_3409-5del	noncoding	Benign
20	9473254	ATTT	A	T9473272G	PLCB4	NM_001377142.1(PLCB4):c.3409-7_3409-5del	noncoding	Benign
20	10285051	TA	T	A10285054T	SNAP25	NM_130811.4(SNAP25):c.163+282del	noncoding	Benign
20	10299100	A	AT	A10299109T	SNAP25	NM_130811.4(SNAP25):c.408-160dup	noncoding	Benign
20	10299100	AT	A	T10299108A	SNAP25	NM_130811.4(SNAP25):c.408-160del	noncoding	Benign
20	10405622	AATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCT	A	A10405623T	MKKS	NM_170784.3(MKKS):c.1291_1337del:p.Ser431fs	coding	Pathogenic
20	10407706	CA	C	A10407707G	MKKS	NM_170784.3(MKKS):c.1181del:p.Leu394fs	coding	Pathogenic
20	10412469	CTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTG	C	C10412471A	MKKS	NM_170784.3(MKKS):c.-41_985+60del	noncoding	Pathogenic
20	10412555	CAG	C	A10412558T	MKKS	NM_170784.3(MKKS):c.958_959del:p.Leu320fs	coding	Pathogenic/Likely_pathogenic
20	10412573	GTC	G	C10412575A	MKKS	NM_170784.3(MKKS):c.940_941del:p.Asp314fs	coding	Pathogenic
20	10412625	A	AT	A10412627T	MKKS	NM_170784.3(MKKS):c.889dup:p.Ile297fs	coding	Pathogenic
20	10412647	G	GA	T10412649A	MKKS	NM_170784.3(MKKS):c.867dup:p.Leu290fs	coding	Pathogenic
20	10412677	CT	C	T10412678A	MKKS	NM_170784.3(MKKS):c.837del:p.Gly280fs	coding	Pathogenic
20	10412751	G	GT	G10412753T	MKKS	NM_170784.3(MKKS):c.763dup:p.Thr255fs	coding	Pathogenic
20	10412921	CTT	C	T10412923C	MKKS	NM_170784.3(MKKS):c.592_593del:p.Lys198fs	coding	Pathogenic
20	10412998	GCT	G	C10413001G	MKKS	NM_170784.3(MKKS):c.515_516del:p.Glu172fs	coding	Pathogenic/Likely_pathogenic
20	10413133	T	TGCAAAGA	C10413141G	MKKS	NM_170784.3(MKKS):c.375_381dup:p.Ile128fs	coding	Pathogenic
20	10413338	CTG	C	T10413341A	MKKS	NM_170784.3(MKKS):c.175_176del:p.Gln59fs	coding	Pathogenic
20	10413417	AC	A	C10413418A	MKKS	NM_170784.3(MKKS):c.97del:p.Ile32_Val33insTer	coding	Pathogenic
20	10413450	ACT	A	T10413456A	MKKS	NM_170784.3(MKKS):c.63_64del:p.Arg21fs	coding	Pathogenic
20	10639951	GA	G	A10639954T	JAG1	NM_000214.3(JAG1):c.3203del:p.Phe1068fs	coding	Pathogenic
20	10640817	T	TA	C10640819A	JAG1	NM_000214.3(JAG1):c.3164dup:p.Arg1056fs	coding	Pathogenic
20	10641121	C	CA	T10641123A	JAG1	NM_000214.3(JAG1):c.3039dup:p.Val1014fs	coding	Pathogenic
20	10641136	T	TCGCTGAAGGGGAAGGCTCG	A10641157G	JAG1	NM_000214.3(JAG1):c.3006_3024dup:p.Asn1009fs	coding	Pathogenic
20	10641158	A	AGC	A10641162C	JAG1	NM_000214.3(JAG1):c.3001_3002dup:p.Cys1002fs	coding	Pathogenic
20	10641275	G	GT	A10641277T	JAG1	NM_000214.3(JAG1):c.2917-32dup	noncoding	Benign
20	10641432	C	CA	C10641443A	JAG1	NM_000214.3(JAG1):c.2916+18dup	noncoding	Benign
20	10641781	A	AC	T10641784C	JAG1	NC_000020.10:g.10622429_10622430insC	noncoding	Pathogenic
20	10641853	GG	CA	G10641853C	JAG1	NM_000214.3(JAG1):c.2611_2612delinsTG:p.Pro871Ter	coding	Pathogenic
20	10644276	TCACA	T	A10644312G	JAG1	NM_000214.3(JAG1):c.2372+43TG[17]	noncoding	Benign
20	10644276	TCA	T	A10644314G	JAG1	NM_000214.3(JAG1):c.2372+43TG[18]	noncoding	Benign
20	10644276	T	TCACA	G10644316A	JAG1	NM_000214.3(JAG1):c.2372+43TG[21]	noncoding	Benign
20	10644276	T	TCA	G10644316A	JAG1	NM_000214.3(JAG1):c.2372+43TG[20]	noncoding	Benign
20	10644276	T	TCTCACA	A10644278T	JAG1	NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGA	noncoding	Benign
20	10644276	T	TCTCACACA	A10644278T	JAG1	NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGTGA	noncoding	Benign
20	10644845	AG	A	G10644851A	JAG1	NM_000214.3(JAG1):c.2344+17del	noncoding	Benign
20	10644883	TC	T	C10644886A	JAG1	NM_000214.3(JAG1):c.2323del:p.Glu775fs	coding	Pathogenic
20	10644888	GC	G	C10644890T	JAG1	NM_000214.3(JAG1):c.2318del:p.Gly773fs	coding	Pathogenic
20	10645245	ACT	A	C10645246G	JAG1	NM_000214.3(JAG1):c.2123_2124del:p.Gln708fs	coding	Pathogenic
20	10645985	GC	G	C10645990T	JAG1	NM_000214.3(JAG1):c.1984del:p.Ala662fs	coding	Pathogenic
20	10646014	C	CT	G10646017T	JAG1	NM_000214.3(JAG1):c.1955dup:p.Cys653fs	coding	Pathogenic
20	10646955	T	TC	G10646959C	JAG1	NM_000214.3(JAG1):c.1868dup:p.Thr624fs	coding	Pathogenic
20	10646994	TC	T	C10646997G	JAG1	NM_000214.3(JAG1):c.1829del:p.Gly610fs	coding	Pathogenic
20	10647320	CCA	C	C10647325A	JAG1	NM_000214.3(JAG1):c.1721-223TG[2]	noncoding	Benign
20	10647992	AG	A	G10647994T	JAG1	NM_000214.3(JAG1):c.1687del:p.His562_Leu563insTer	coding	Pathogenic
20	10648627	C	CAA	C10648631A	JAG1	NM_000214.3(JAG1):c.1489_1490dup:p.Leu497fs	coding	Pathogenic
20	10648632	AG	A	G10648636T	JAG1	NM_000214.3(JAG1):c.1485del:p.Cys496fs	coding	Pathogenic
20	10648668	AGT	A	T10648670A	JAG1	NM_000214.3(JAG1):c.1448_1449del:p.His483fs	coding	Pathogenic
20	10648693	A	AC	A10648695C	JAG1	NM_000214.3(JAG1):c.1424dup:p.Cys475fs	coding	Pathogenic
20	10648739	G	GGA	C10648750G	JAG1	NM_000214.3(JAG1):c.1396-27TC[6]	noncoding	Benign
20	10649092	AG	A	G10649094C	JAG1	NM_000214.3(JAG1):c.1363del:p.Gly456fs	coding	Pathogenic
20	10649109	T	TA	T10649116A	JAG1	NM_000214.3(JAG1):c.1349-8dup	noncoding	Benign
20	10649557	C	CA	G10649559A	JAG1	NM_000214.3(JAG1):c.1312dup:p.Cys438fs	coding	Pathogenic
20	10650275	TG	T	G10650281C	JAG1	NM_000214.3(JAG1):c.1205del:p.Pro402fs	coding	Pathogenic
20	10650341	AG	A	G10650343A	JAG1	NM_000214.3(JAG1):c.1139del:p.Pro380fs	coding	Pathogenic
20	10651599	C	CG	T10651602G	JAG1	NM_000214.3(JAG1):c.1101dup:p.Gly368fs	coding	Pathogenic
20	10652224	GC	G	C10652225T	JAG1	NM_000214.3(JAG1):c.912del:p.Gln304fs	coding	Pathogenic
20	10652233	T	TC	A10652237C	JAG1	NM_000214.3(JAG1):c.903dup:p.Thr302fs	coding	Pathogenic
20	10656418	G	GC	A10656420C	JAG1	NM_000214.3(JAG1):c.734dup:p.Cys245fs	coding	Pathogenic
20	10656462	TA	T	A10656468C	JAG1	NM_000214.3(JAG1):c.695-5del	noncoding	Benign
20	10658450	G	GCA	T10658465C	JAG1	NM_000214.3(JAG1):c.694+4TG[8]	noncoding	Benign
20	10658506	G	GT	G10658511T	JAG1	NM_000214.3(JAG1):c.655dup:p.Thr219fs	coding	Pathogenic
20	10663960	TACGA	T	A10663964G	JAG1	NM_000214.3(JAG1):c.438_439+2del	noncoding	Pathogenic
20	10672746	GC	G	C10672748G	JAG1	NM_000214.3(JAG1):c.341del:p.Gly114fs	coding	Pathogenic
20	10672814	AG	A	G10672817C	JAG1	NM_000214.3(JAG1):c.273del:p.Cys92fs	coding	Pathogenic
20	10673166	CA	C	A10673181T	JAG1	NM_000214.3(JAG1):c.82-161del	noncoding	Benign
20	10673166	C	CA	T10673182A	JAG1	NM_000214.3(JAG1):c.82-175dup	noncoding	Benign
20	10673456	T	TC	G10673458C	JAG1	NM_000214.3(JAG1):c.74dup:p.Ala26fs	coding	Pathogenic
20	13785298	C	CGCGGGGCG	G13785324C	NDUFAF5	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[4]	noncoding	Benign
20	13785298	C	CGCGGGGCGGCGGGGCG	G13785324C	NDUFAF5	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5]	noncoding	Benign/Likely_benign
20	13787065	A	ATG	A13787085G	NDUFAF5	NM_024120.5(NDUFAF5):c.223-246TG[10]	noncoding	Benign
20	13816442	CTACCTG	C	C13816445G	NDUFAF5	NM_024120.5(NDUFAF5):c.779-18_779-13del	noncoding	Benign
20	17509146	A	AGGTGG	A17509148G	BFSP1	NM_001195.5(BFSP1):c.628-151_628-150insCCCAC	noncoding	Benign
20	17509255	C	CCCCCA	T17509260A	BFSP1	NM_001195.5(BFSP1):c.628-260_628-259insGGGGT	noncoding	Benign
20	17511739	G	GA	T17511744A	BFSP1	NM_001195.5(BFSP1):c.627+233dup	noncoding	Benign
20	17530699	AT	A	T17530700G	BFSP1	NM_001195.5(BFSP1):c.377+253del	noncoding	Benign
20	17559236	A	AAAC	A17559260C	BFSP1	NM_001278608.2(BFSP1):c.-41+1100GTT[8]	noncoding	Benign
20	17989705	C	CT	C17989718T	MGME1	NM_052865.4(MGME1):c.865-222dup	noncoding	Benign
20	17990409	T	TTGG	G17990413T	MGME1	NM_052865.4(MGME1):c.*301_*303dup	noncoding	Benign
20	17990410	TG	T	G17990423C	MGME1	NM_052865.4(MGME1):c.*314del	noncoding	Benign
20	18511505	AT	A	T18511519G	SEC23B	NM_006363.6(SEC23B):c.221+463del	noncoding	Benign
20	18511505	ATT	A	T18511518G	SEC23B	NM_006363.6(SEC23B):c.221+462_221+463del	noncoding	Benign
20	18524507	CAA	C	A18524509G	SEC23B	NM_006363.6(SEC23B):c.443_444del:p.Lys148fs	coding	Pathogenic
20	18524641	CCAAGGAT	C	C18524642T	SEC23B	NM_006363.6(SEC23B):c.576_582del:p.Thr192_Lys193insTer	coding	Pathogenic
20	18524919	C	CT	A18524932T	SEC23B	NM_006363.6(SEC23B):c.604-4dup	noncoding	Benign
20	18524919	C	CTT	A18524932T	SEC23B	NM_006363.6(SEC23B):c.604-5_604-4dup	noncoding	Benign
20	18525638	TTAG	T	T18525642A	SEC23B	NM_006363.6(SEC23B):c.690-146_690-144del	noncoding	Benign
20	18530812	AAC	GACT	A18530812G	SEC23B	NM_006363.6(SEC23B):c.1233+9_1233+11delinsGACT	noncoding	Benign
20	18535761	CAT	C	A18535762G	SEC23B	NM_006363.6(SEC23B):c.1404+20_1404+21del	noncoding	Benign
20	18550826	TA	T	A18550838G	SEC23B	NM_006363.6(SEC23B):c.1906-251del	noncoding	Benign
20	18553929	GA	G	A18553933G	SEC23B	NM_006363.6(SEC23B):c.1993-302del	noncoding	Benign
20	18554826	C	CAA	T18554843A	SEC23B	NM_006363.6(SEC23B):c.2149-267_2149-266dup	noncoding	Benign
20	18554826	C	CA	T18554843A	SEC23B	NM_006363.6(SEC23B):c.2149-266dup	noncoding	Benign
20	18554946	ATAGATTACTGTGCAGTAAAACAATTCTAAT	A	A18554978T	SEC23B	NM_006363.6(SEC23B):c.2149-130_2149-101del	noncoding	Benign
20	19886608	TC	T	C19886609T	RIN2	NM_018993.4(RIN2):c.-36-2957del	noncoding	Benign
20	19886612	C	CT	G19886632T	RIN2	NM_018993.4(RIN2):c.-36-2935dup	noncoding	Benign
20	19886612	CT	C	T19886631G	RIN2	NM_018993.4(RIN2):c.-36-2935del	noncoding	Benign
20	19971185	A	AT	G19971198T	RIN2	NM_018993.4(RIN2):c.628+268dup	noncoding	Benign
20	21126164	T	TA	C21126166A	KIZ	NM_018474.6(KIZ):c.50dup:p.Tyr17Ter	coding	Pathogenic
20	21136434	T	TA	T21136436A	KIZ	NM_018474.6(KIZ):c.198dup:p.Cys67fs	coding	Pathogenic
20	21145602	CA	C	A21145606G	KIZ	NM_018474.6(KIZ):c.357del:p.Asp120fs	coding	Pathogenic
20	21161952	CA	C	A21161955T	KIZ	NM_018474.6(KIZ):c.490del:p.Met164fs	coding	Pathogenic
20	21162045	CACCGACAGACAGCCCAGAGCAGTAA	C	A21162046T	KIZ	NM_018474.6(KIZ):c.581_605del:p.His194fs	coding	Pathogenic
20	21162130	ACAACATAGATGGAAAGG	A	A21162133T	KIZ	NM_018474.6(KIZ):c.668_684del:p.Asn223fs	coding	Pathogenic
20	21162269	CA	C	A21162274G	KIZ	NM_018474.6(KIZ):c.809del:p.Lys270fs	coding	Pathogenic
20	21163083	GA	G	A21163090T	KIZ	NM_018474.6(KIZ):c.1283del:p.Asn428fs	coding	Pathogenic
20	21163172	A	AT	C21163183T	KIZ	NM_018474.6(KIZ):c.1352+23dup	noncoding	Benign
20	21163172	AT	A	T21163182C	KIZ	NM_018474.6(KIZ):c.1352+23del	noncoding	Benign
20	21205522	A	AG	C21205526G	KIZ	NM_018474.6(KIZ):c.1387dup:p.Ala463fs	coding	Benign
20	21205529	A	AGGTG	C21205537G	KIZ	NM_018474.6(KIZ):c.1395_1398dup:p.Gln467fs	coding	Pathogenic/Likely_pathogenic
20	21705855	G	GCGGCTCT	G21705873C	PAX1	NM_001257096.2(PAX1):c.154_160dup:p.Gly54fs	coding	Pathogenic
20	21706611	TACA	T	A21706614G	PAX1	NM_001257096.2(PAX1):c.463_465del:p.Asn155del	coding	Pathogenic
20	23047816	C	CA	G23047818A	THBD	NM_000361.3(THBD):c.1688dup:p.Gln564fs	coding	Pathogenic
20	23364814	CAG	C	A23364817T	GZF1	NM_022482.5(GZF1):c.434_435del:p.Glu145fs	coding	Pathogenic
20	23364892	AT	A	T23364893G	GZF1	NM_022482.5(GZF1):c.510del:p.Asp170fs	coding	Pathogenic
20	23365064	TGGGA	T	G23365067A	GZF1	NM_022482.5(GZF1):c.684_687del:p.Lys230fs	coding	Pathogenic
20	23365172	C	CACCCGTAGTGT	C23365173A	GZF1	NM_022482.5(GZF1):c.789_790insACCCGTAGTGT:p.Gln264fs	coding	Pathogenic
20	23365283	AGAG	A	G23365301C	GZF1	NM_022482.5(GZF1):c.903GGA[5]:p.Glu306del	coding	Benign
20	23365598	G	GCGGC	A23365603C	GZF1	NM_022482.5(GZF1):c.1216_1219dup:p.His407fs	coding	Pathogenic
20	23367077	AT	A	T23367078C	GZF1	NM_022482.5(GZF1):c.1440del:p.His481fs	coding	Pathogenic
20	23367086	GGT	G	G23367089C	GZF1	NM_022482.5(GZF1):c.1451_1452del:p.Cys484fs	coding	Pathogenic
20	23367111	CTG	C	G23367113T	GZF1	NM_022482.5(GZF1):c.1459+16_1459+17del	noncoding	Benign
20	23368739	CTTTA	C	A23368743C	GZF1	NM_022482.5(GZF1):c.1460-19_1460-16del	noncoding	Benign
20	23368970	CA	C	A23368980T	GZF1	NM_022482.5(GZF1):c.1627+51del	noncoding	Benign
20	25294917	GTTAGTT	G	A25294926G	ABHD12	NM_002862.4(PYGB):c.2312+634_2312+639del	coding	Benign
20	25303264	CCT	C	C25303265G	ABHD12	NM_001042472.3(ABHD12):c.1029+284_1029+285del	noncoding	Benign
20	25303302	A	AG	T25303303G	ABHD12	NM_001042472.3(ABHD12):c.1029+247_1029+248insC	noncoding	Benign
20	25309446	CCAGTGCCCAGA	C	C25309447G	ABHD12	NM_001042472.3(ABHD12):c.738_748del:p.Leu247fs	coding	Pathogenic
20	25314678	TA	T	A25314696G	ABHD12	NM_001042472.3(ABHD12):c.619+246del	noncoding	Benign
20	25323405	C	CA	T25323409A	ABHD12	NM_001042472.3(ABHD12):c.341dup:p.Leu114fs	coding	Pathogenic/Likely_pathogenic
20	25323408	ATC	A	T25323409A	ABHD12	NM_001042472.3(ABHD12):c.337_338del:p.Asp113fs	coding	Pathogenic
20	25339336	CCA	C	A25339340G	ABHD12	NM_001042472.3(ABHD12):c.205_206del:p.Trp69fs	coding	Pathogenic
20	25390476	GGCCCCC	G	G25390477C	ABHD12	NM_001042472.3(ABHD12):c.191+31_191+36del	noncoding	Benign
20	31823595	A	AC	A31823600C	MYLK2	NM_033118.4(MYLK2):c.878+17dup	noncoding	Benign
20	31824365	CG	C	G31824370T	MYLK2	NM_033118.4(MYLK2):c.972+18del	noncoding	Benign
20	32230971	CTG	C	T32230972G	POFUT1	NM_015352.2(POFUT1):c.889_890del:p.Trp297fs	coding	Pathogenic
20	32358292	CA	C	A32358304C	ASXL1	Single_allele	noncoding	Benign
20	32369073	GA	G	A32369074G	ASXL1	NM_015338.6(ASXL1):c.203del:p.Glu68fs	coding	Pathogenic
20	32369133	AT	A	T32369134G	ASXL1	NM_015338.6(ASXL1):c.252+11del	noncoding	Benign
20	32433632	TCC	T	C32433634G	ASXL1	NM_015338.6(ASXL1):c.1436_1437del:p.Pro479fs	coding	Pathogenic
20	32433766	A	AG	A32433768G	ASXL1	NM_015338.6(ASXL1):c.1569dup:p.Arg524fs	coding	Pathogenic
20	32434479	C	CACTT	C32434486T	ASXL1	NM_015338.6(ASXL1):c.1770_1773dup:p.Gln592fs	coding	Pathogenic
20	32434852	TCC	T	C32434853A	ASXL1	NM_015338.6(ASXL1):c.2141_2142del:p.Met713_Ser714insTer	coding	Pathogenic
20	32434856	GAGCTAGGAGA	G	A32434857G	ASXL1	NM_015338.6(ASXL1):c.2145_2154del:p.Ala716fs	coding	Pathogenic
20	32435469	A	ACCAT	T32435475C	ASXL1	NM_015338.6(ASXL1):c.2759_2762dup:p.Val922fs	coding	Pathogenic
20	32436826	ACTTTTGTGGGGGGTCCT	A	T32436830A	ASXL1	NM_015338.6(ASXL1):c.4118_4134del:p.Thr1372_Phe1373insTer	coding	Pathogenic
20	32436827	CTT	C	T32436830G	ASXL1	NM_015338.6(ASXL1):c.4118_4119del:p.Phe1373fs	coding	Pathogenic
20	32436935	T	TG	C32436937G	ASXL1	NM_015338.6(ASXL1):c.4224dup:p.Pro1409fs	coding	Pathogenic
20	32781330	AC	A	C32781331T	DNMT3B	NM_006892.4(DNMT3B):c.143-22del	noncoding	Benign
20	32792699	TG	T	G32792700T	DNMT3B	NM_006892.4(DNMT3B):c.996del:p.Met332fs	coding	Pathogenic
20	33745159	G	GT	C33745160T	ZNF341	NM_001282933.2(ZNF341):c.199_200insT:p.Ala67fs	coding	Pathogenic
20	33757204	TG	T	G33757206C	ZNF341	NM_001282933.2(ZNF341):c.800del:p.Gly267fs	coding	Pathogenic
20	33783756	CGG	C	G33783757C	ZNF341	NM_001282933.2(ZNF341):c.1745_1746del:p.Arg582fs	coding	Pathogenic
20	33783782	C	CG	C33783788G	ZNF341	NM_001282933.2(ZNF341):c.1775dup:p.Arg593fs	coding	Pathogenic
20	34290531	A	AC	A34290538C	AHCY	NM_000687.4(AHCY):c.854+19dup	noncoding	Benign
20	34477760	A	AT	A34477770T	ITCH	NM_031483.7(ITCH):c.1570-3dup	noncoding	Benign
20	34477760	AT	A	T34477769A	ITCH	NM_031483.7(ITCH):c.1570-3del	noncoding	Benign
20	34581691	AAGAG	A	G34581701T	PIGU	NM_080476.5(PIGU):c.927-31CT[4]	noncoding	Benign
20	34929557	GCCTGTA	G	T34929560A	GSS	NM_000178.4(GSS):c.1139_1144del:p.Val380_Gln381del	coding	Pathogenic
20	34929810	TCTC	T	C34929816A	GSS	NM_000178.4(GSS):c.1112-223_1112-221del	noncoding	Benign
20	34945678	T	TA	G34945682A	GSS	NM_000178.4(GSS):c.275+272dup	noncoding	Benign
20	34984838	A	AC	A34984844C	MYH7B	NM_020884.7(MYH7B):c.649-11dup	noncoding	Benign
20	34987544	C	CAT	G34987545A	MYH7B	NM_020884.7(MYH7B):c.1148-13_1148-12insAT	noncoding	Benign
20	34996764	TGTG	T	T34996769G	MYH7B	NM_020884.7(MYH7B):c.3266+11_3266+13del	noncoding	Benign
20	35434101	GC	AA	G35434101A	GDF5	NM_000557.5(GDF5):c.1313_1314delinsTT:p.Arg438Leu	coding	Pathogenic
20	35434422	GC	G	C35434423G	GDF5	NM_000557.5(GDF5):c.992del:p.Arg331fs	coding	Pathogenic
20	35437430	TG	T	G35437436T	GDF5	NM_000557.5(GDF5):c.498del:p.Ile167fs	coding	Pathogenic
20	35437524	TG	T	G35437529T	GDF5	NM_000557.5(GDF5):c.404del:p.Pro135fs	coding	Pathogenic
20	35437524	T	TG	T35437530G	GDF5	NM_000557.5(GDF5):c.404dup:p.Ala137fs	coding	Pathogenic
20	35437579	GC	G	C35437581T	GDF5	NM_000557.5(GDF5):c.349del:p.Ala117fs	coding	Pathogenic
20	35437776	GGGCCTCTCCTTGGCCTCTGCTTT	G	T35437781A	GDF5	NM_000557.5(GDF5):c.130_152del:p.Lys44fs	coding	Pathogenic
20	35438358	TCA	T	A35438390T	GDF5	NM_000557.1(GDF5):c.173_174GT[15]	noncoding	Benign
20	35438358	T	TCACACACACA	T35438392A	GDF5	NM_000557.1(GDF5):c.173_174GT[21]	noncoding	Benign
20	35438358	T	TCACACACA	T35438392A	GDF5	NM_000557.1(GDF5):c.173_174GT[20]	noncoding	Benign
20	35438358	T	TCACACA	T35438392A	GDF5	NM_000557.1(GDF5):c.173_174GT[19]	noncoding	Benign
20	35438358	T	TCA	T35438392A	GDF5	NM_000557.1(GDF5):c.173_174GT[17]	noncoding	Benign
20	35462459	T	TG	C35462462G	CEP250	NM_007186.6(CEP250):c.94dup:p.Ala32fs	coding	Pathogenic
20	35466048	TC	T	C35466049T	CEP250	NM_007186.6(CEP250):c.337del:p.Ser112_Leu113insTer	coding	Pathogenic
20	35473398	TG	T	G35473399T	CEP250	NM_007186.6(CEP250):c.1235del:p.Cys412fs	coding	Pathogenic
20	35478014	GA	G	A35478017G	CEP250	NM_007186.6(CEP250):c.2010del:p.Ala671fs	coding	Pathogenic
20	35479744	C	CT	G35479746T	CEP250	NM_007186.6(CEP250):c.2388dup:p.Val797fs	coding	Pathogenic
20	35491192	A	AC	T35491199C	CEP250	NM_007186.6(CEP250):c.2755-14dup	noncoding	Benign
20	35493524	AG	A	G35493525A	CEP250	NM_007186.6(CEP250):c.2986del:p.Glu996fs	coding	Pathogenic
20	35497933	A	ACCAGGC	C35497956G	CEP250	NM_007186.6(CEP250):c.3526GCCCAG[4]:p.1176AQ[4]	coding	Benign
20	35498016	GA	AT	G35498016A	CEP250	NM_007186.6(CEP250):c.3604_3605delinsAT:p.Glu1202Met	coding	Benign
20	35501830	C	CCT	T35501837C	CEP250	NM_007186.6(CEP250):c.3899-14CT[4]	noncoding	Benign
20	35503867	AG	A	G35503869A	CEP250	NM_007186.6(CEP250):c.5500del:p.Glu1834fs	coding	Pathogenic
20	35504854	CAG	C	G35504856A	CEP250	NM_007186.6(CEP250):c.6487_6488del:p.Glu2163fs	coding	Pathogenic
20	35674095	A	AC	A35674099C	NFS1	NM_021100.5(NFS1):c.1136+252dup	noncoding	Benign
20	35680952	T	TCCA	A35680956C	NFS1	NM_021100.5(NFS1):c.656-84_656-82dup	noncoding	Benign
20	35681795	AACT	A	T35681798A	NFS1	NM_021100.5(NFS1):c.655+90_655+92del	noncoding	Benign
20	35696675	T	TA	T35696678A	NFS1	NM_021100.5(NFS1):c.325-217dup	noncoding	Benign
20	36898463	CT	C	T36898464C	SAMHD1	NM_015474.4(SAMHD1):c.1584del:p.Ala529fs	coding	Pathogenic
20	36904042	A	AGATGACTTCTT	T36904043G	SAMHD1	NM_015474.4(SAMHD1):c.1503+114_1503+115insAAGAAGTCATC	noncoding	Benign
20	36904206	GGTTTAGCACT	G	T36904208G	SAMHD1	NM_015474.4(SAMHD1):c.1444_1453del:p.Ser482fs	coding	Pathogenic
20	36904240	CA	C	A36904241T	SAMHD1	NM_015474.4(SAMHD1):c.1419del:p.Asp472_Tyr473insTer	coding	Pathogenic
20	36905439	T	TA	T36905444A	SAMHD1	NM_015474.4(SAMHD1):c.1334dup:p.Leu445fs	coding	Pathogenic
20	36905452	G	GC	G36905454C	SAMHD1	NM_015474.4(SAMHD1):c.1321dup:p.Ala441fs	coding	Pathogenic
20	36912751	A	AT	A36912778T	SAMHD1	NM_015474.4(SAMHD1):c.1063-225dup	noncoding	Benign
20	36912751	A	ATT	A36912778T	SAMHD1	NM_015474.4(SAMHD1):c.1063-225_1063-224dup	noncoding	Benign
20	36912751	ATTTTTTT	A	T36912771A	SAMHD1	NM_015474.4(SAMHD1):c.1063-206_1063-200del	noncoding	Benign
20	36916749	AT	A	T36916751G	SAMHD1	NM_015474.4(SAMHD1):c.1034del:p.Asn345fs	coding	Pathogenic
20	36927230	CATGTGAGAAA	C	T36927234G	SAMHD1	NM_015474.4(SAMHD1):c.638_647del:p.Phe213fs	coding	Pathogenic
20	36930564	CCAAGAAAATAAAATAGCAATGTTTTCTACTTATGAATCATTCTAGGAAGAAGCAACAGTACATTTATACTAACATCAACTGAAGAATTAAAATACAATTTCCATATTCTCTTGGTTGATCTGATTTTTTAACGTCAAAGAGAGGTAACATATGTTATGATTTTACATAACAACTTTGTCTCTTTGTACAGCTTACCGAGATCATGACAAAGTCCAGCAA	AATTTC	C36930564A	SAMHD1	NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT	noncoding	Pathogenic
20	36930807	TCACTTATCTG	T	C36930810G	SAMHD1	NM_015474.4(SAMHD1):c.568_577del:p.Gln190fs	coding	Pathogenic
20	36930892	CA	C	A36930897G	SAMHD1	NM_015474.4(SAMHD1):c.510-18del	noncoding	Benign
20	36935077	TA	T	A36935079C	SAMHD1	NM_015474.4(SAMHD1):c.460del:p.Tyr154fs	coding	Pathogenic
20	36941058	AT	A	T36941061G	SAMHD1	NM_015474.4(SAMHD1):c.328del:p.Ile110fs	coding	Pathogenic
20	36951542	C	CG	A36951547G	SAMHD1	NM_015474.4(SAMHD1):c.101dup:p.Leu36fs	coding	Pathogenic
20	37198625	A	ATT	C37198636T	RPN2	NM_002951.5(RPN2):c.303+142_303+143dup	noncoding	Benign
20	37223635	C	CT	G37223649T	RPN2	NM_002951.5(RPN2):c.1093-230dup	noncoding	Benign
20	37228976	A	ACTTAC	T37228980A	RPN2	NM_002951.5(RPN2):c.1494+235_1494+236insACCTT	noncoding	Benign
20	37236958	TA	T	A37236959G	RPN2	NM_002951.5(RPN2):c.1883+250del	noncoding	Benign
20	37384666	CAAGA	C	A37384668G	SRC	NM_198291.3(SRC):c.250+265_250+268del	noncoding	Benign
20	37384673	A	AG	A37384674G	SRC	NM_198291.3(SRC):c.250+270_250+271insG	noncoding	Benign
20	37384686	C	CG	A37384690G	SRC	NM_198291.3(SRC):c.250+286dup	noncoding	Benign
20	37384707	CT	C	T37384709G	SRC	NM_198291.3(SRC):c.250+306del	noncoding	Benign
20	41185409	A	AG	C41185412G	ZHX3	NM_001384317.1(ZHX3):c.2861-210dup	noncoding	Benign
20	42677848	G	GA	T42677860A	PTPRT	NM_007050.6(PTPRT):c.1153+7dup	noncoding	Benign
20	43620839	C	CT	A43620850T	IFT52	NM_016004.5(IFT52):c.700-8dup	noncoding	Benign
20	43620839	C	CTT	A43620850T	IFT52	NM_016004.5(IFT52):c.700-9_700-8dup	noncoding	Benign
20	43620839	C	CTTT	A43620850T	IFT52	NM_016004.5(IFT52):c.700-10_700-8dup	noncoding	Benign
20	43637268	C	CT	G43637280T	IFT52	NM_016004.5(IFT52):c.1120+26dup	noncoding	Benign
20	44114565	A	AGT	C44114611T	JPH2	NM_020433.5(JPH2):c.*14+173AC[23]	noncoding	Benign
20	44114565	AGT	A	T44114609C	JPH2	NM_020433.5(JPH2):c.*14+173AC[21]	noncoding	Benign
20	44114565	AGTGT	A	T44114607C	JPH2	NM_020433.5(JPH2):c.*14+173AC[20]	noncoding	Benign
20	44114565	AGTGTGT	A	T44114605C	JPH2	NM_020433.5(JPH2):c.*14+173AC[19]	noncoding	Benign
20	44114565	AGTGTGTGT	A	T44114603C	JPH2	NM_020433.5(JPH2):c.*14+173AC[18]	noncoding	Benign
20	44114565	AGTGTGTGTGTGTGTGTGT	A	T44114593C	JPH2	NM_020433.5(JPH2):c.*14+173AC[13]	noncoding	Benign
20	44115754	C	CA	G44115756A	JPH2	NM_020433.5(JPH2):c.1920dup:p.Glu641Ter	coding	Pathogenic
20	44355850	T	TA	C44355852A	HNF4A	NM_175914.5(HNF4A):c.47dup:p.Tyr16Ter	coding	Pathogenic
20	44401297	GGGAGGGC	G	A44401307G	HNF4A	NM_175914.5(HNF4A):c.50-4751_50-4745del	coding	Benign
20	44407757	T	TTG	T44407793G	HNF4A	NM_175914.5(HNF4A):c.319+283TG[18]	noncoding	Benign
20	44407757	T	TTGTG	T44407793G	HNF4A	NM_175914.5(HNF4A):c.319+283TG[19]	noncoding	Benign
20	44407757	T	TTGTGTG	T44407793G	HNF4A	NM_175914.5(HNF4A):c.319+283TG[20]	noncoding	Benign
20	44407757	T	TTGTGTGTG	T44407793G	HNF4A	NM_175914.5(HNF4A):c.319+283TG[21]	noncoding	Benign
20	44418496	GGACGTGC	G	G44418497T	HNF4A	NM_175914.5(HNF4A):c.655_661del:p.Asp219fs	coding	Pathogenic
20	44424242	A	ATG	C44424245T	HNF4A	NM_175914.5(HNF4A):c.1052_1053dup:p.Leu352fs	coding	Pathogenic
20	44428356	A	AT	G44428358T	HNF4A	NM_175914.5(HNF4A):c.1086dup:p.Ala363fs	coding	Pathogenic
20	44430597	TGAGGAAGAATGGTGTGGGA	T	A44430602G	HNF4A	NM_175914.5(HNF4A):c.*937_*955del	noncoding	Benign
20	44430955	ATCCTCCCT	A	T44430964A	HNF4A	NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]	noncoding	Benign/Likely_benign
20	44620354	CCT	C	C44620357T	ADA	NM_000022.4(ADA):c.1021_1022del:p.Arg341fs	coding	Pathogenic
20	44621138	A	AT	G44621144T	ADA	NM_000022.4(ADA):c.854dup:p.Asn285fs	coding	Pathogenic
20	44622652	TCTG	CCAGATCTGCTCTTCCA	T44622652C	ADA	NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG	coding	Pathogenic
20	44624230	A	AG	C44624233G	ADA	NM_000022.4(ADA):c.577dup:p.Leu193fs	coding	Pathogenic
20	44625679	TCC	T	C44625682T	ADA	NM_000022.4(ADA):c.366_367del:p.Asp123fs	coding	Pathogenic
20	44629417	A	AGT	A44629440G	ADA	NM_000022.4(ADA):c.96-270AC[12]	noncoding	Benign
20	44629417	AGT	A	G44629438A	ADA	NM_000022.4(ADA):c.96-270AC[10]	noncoding	Benign
20	44636266	TCTAGGTGGACATGCAGTTCCACCTGCAAGGGGG	T	T44636268A	ADA	NM_000022.4(ADA):c.34-11_55del	coding	Pathogenic
20	44636294	AG	A	G44636299C	ADA	NM_000022.4(ADA):c.34-7del	noncoding	Benign
20	44651470	CCCCGTTCGTTCCCAGGGTTTGGACGCCCCGGGCTGGGCCCCGCTAAGCCCCTCGGGCCGCCCAGGCGCCGGACCCCCGTCCCCGGAGCCCCCGCGCGCGCTCA	C	C44651472T	ADA	NM_000022.4(ADA):c.33+2_33+104del	noncoding	Pathogenic
20	44651557	G	GC	G44651563C	ADA	NM_000022.4(ADA):c.33+17dup	noncoding	Benign
20	45415879	ATAT	A	T45415885A	PIGT	Single_allele	noncoding	Benign
20	45419425	C	CG	T45419432G	PIGT	NM_015937.6(PIGT):c.594+36dup	noncoding	Benign
20	45420569	A	AT	A45420571T	PIGT	NM_015937.6(PIGT):c.910dup:p.Tyr304fs	coding	Pathogenic
20	45421276	T	TC	A45421281C	PIGT	NM_015937.6(PIGT):c.1034-103dup	noncoding	Benign
20	45421385	G	GC	A45421393C	PIGT	NM_015937.6(PIGT):c.1043dup:p.Val349fs	coding	Pathogenic
20	45891620	CTG	C	T45891621C	CTSA	NM_000308.4(CTSA):c.53_54del:p.Leu18fs	coding	Benign
20	45891627	TG	T	G45891628T	CTSA	NM_000308.4(CTSA):c.60del:p.Ser21fs	coding	Pathogenic
20	45893974	CTCA	C	A45893977T	CTSA	NM_000308.4(CTSA):c.693-11_693-9del	noncoding	Benign
20	45895035	CT	C	T45895036G	CTSA	NM_000308.4(CTSA):c.991del:p.Cys331fs	coding	Pathogenic
20	45896825	GC	G	C45896834A	CTSA	NM_000308.4(CTSA):c.1089-131del	noncoding	Benign
20	45896979	T	TA	C45896981A	CTSA	NM_000308.4(CTSA):c.1104dup:p.Gln369fs	coding	Pathogenic
20	45898040	CG	C	G45898044A	CTSA	NM_000308.4(CTSA):c.1294del:p.Asp432fs	coding	Pathogenic
20	45952321	G	GC	G45952322C	ZNF335	NM_022095.4(ZNF335):c.3014_3015insG:p.Ser1007fs	coding	Pathogenic
20	45958055	C	CT	G45958069T	ZNF335	NM_022095.4(ZNF335):c.2254-140dup	noncoding	Benign
20	45960127	AG	A	G45960128A	ZNF335	NM_022095.4(ZNF335):c.2020+80del	noncoding	Benign
20	45968274	T	TG	T45968279G	ZNF335	NM_022095.4(ZNF335):c.520+10dup	noncoding	Benign
20	45969319	AG	A	G45969323T	ZNF335	NM_022095.4(ZNF335):c.442+131del	noncoding	Benign
20	46008772	CCA	C	A46008818C	MMP9	Single_allele	noncoding	Benign
20	46008772	CCACA	C	A46008816C	MMP9	Single_allele	noncoding	Benign
20	46008772	CCACACA	C	A46008814C	MMP9	Single_allele	noncoding	Benign
20	46008772	CCACACACACACACACACA	C	A46008802C	MMP9	Single_allele	noncoding	Benign
20	46010328	A	ACAAACAAAC	A46010329C	MMP9	NM_004994.3(MMP9):c.372-155_372-154insCAAACAAAC	noncoding	Benign
20	46010329	A	ACAAACAAACAAAC	A46010330C	MMP9	NM_004994.3(MMP9):c.372-154_372-153insCAAACAAACAAAC	noncoding	Benign
20	46010330	A	AAACAAACAAAC	A46010333C	MMP9	NM_004994.3(MMP9):c.372-151_372-150insCAAACAAACAA	noncoding	Benign
20	46010330	A	AC	A46010331C	MMP9	NM_004994.3(MMP9):c.372-153_372-152insC	noncoding	Benign
20	46010332	A	ACAAACAAAC	A46010333C	MMP9	NM_004994.3(MMP9):c.372-151_372-150insCAAACAAAC	noncoding	Benign
20	46016627	CAA	C	A46016643G	MMP9	Single_allele	noncoding	Benign
20	46016627	CA	C	A46016644G	MMP9	Single_allele	noncoding	Benign
20	46021439	CGAAT	C	A46021462G	SLC12A5	Single_allele	noncoding	Benign
20	46022965	GGAGGAGGAGGAAGAGGAGGAGGAGGAA	G	A46022992G	SLC12A5	NM_001134771.2(SLC12A5):c.121+1106_121+1132del	noncoding	Benign
20	46022971	GGAGGAAGAGGAGGAGGAGGAA	G	A46022977G	SLC12A5	NM_001134771.2(SLC12A5):c.121+1091_121+1111del	noncoding	Benign
20	46022977	A	AGGAG	A46022979G	SLC12A5	NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG	noncoding	Benign
20	46029410	CG	C	G46029415C	SLC12A5	NM_020708.5(SLC12A5):c.52+19del	noncoding	Benign
20	46029410	CGGGGGCGGCGGGGGA	C	G46029417A	SLC12A5	NM_020708.5(SLC12A5):c.52+21_52+35del	noncoding	Benign
20	46037304	G	GT	G46037305T	SLC12A5	NM_020708.5(SLC12A5):c.531_532insT:p.Gly178fs	coding	Pathogenic
20	46045059	T	TG	C46045064G	SLC12A5	NM_020708.5(SLC12A5):c.1492dup:p.Ala498fs	coding	Pathogenic
20	46045552	TA	T	A46045562G	SLC12A5	NM_020708.5(SLC12A5):c.1570-316del	noncoding	Benign
20	46051793	AGC	A	G46051794A	SLC12A5	NM_020708.5(SLC12A5):c.2301_2302del:p.His768fs	coding	Pathogenic
20	46053097	CT	C	T46053098G	SLC12A5	NM_020708.5(SLC12A5):c.2519del:p.Leu840fs	coding	Pathogenic
20	46056251	TGAAGA	T	A46056256C	SLC12A5	NM_020708.5(SLC12A5):c.2894_2898del:p.Glu965fs	coding	Pathogenic
20	46128304	CT	C	T46128327A	CD40	NM_001250.6(CD40):c.647-3del	noncoding	Benign
20	46128304	CTT	C	T46128326A	CD40	NM_001250.6(CD40):c.647-4_647-3del	noncoding	Benign
20	46368695	GC	G	C46368702A	ELMO2	NM_133171.5(ELMO2):c.1962+195del	noncoding	Benign
20	46374312	AG	A	G46374315A	ELMO2	NM_133171.5(ELMO2):c.1279+19del	noncoding	Benign
20	46389152	C	CA	T46389154A	ELMO2	NM_133171.5(ELMO2):c.311dup:p.Met104fs	coding	Pathogenic
20	46563400	AT	A	T46563401G	SLC13A3	NM_022829.6(SLC13A3):c.1632+13del	noncoding	Benign
20	46724806	A	AGGAT	T46724849A	SLC2A10	NM_030777.4(SLC2A10):c.5-234GGAT[11]	noncoding	Benign
20	46724806	AGGAT	A	A46724845T	SLC2A10	NM_030777.4(SLC2A10):c.5-234GGAT[9]	noncoding	Benign
20	46724875	C	CGGATGGATGGATGGAT	T46724906A	SLC2A10	NM_030777.4(SLC2A10):c.5-165GGAT[11]	noncoding	Benign
20	46724875	C	CGGATGGATGGAT	T46724906A	SLC2A10	NM_030777.4(SLC2A10):c.5-165GGAT[10]	noncoding	Benign
20	46724875	C	CGGATGGAT	T46724906A	SLC2A10	NM_030777.4(SLC2A10):c.5-165GGAT[9]	noncoding	Benign
20	46725504	ACTGG	A	C46725509T	SLC2A10	NM_030777.4(SLC2A10):c.473_476del:p.Ala158fs	coding	Pathogenic
20	46725514	AC	A	C46725519T	SLC2A10	NM_030777.4(SLC2A10):c.483del:p.Trp162fs	coding	Pathogenic
20	46727161	G	GTTTTACATCA	G46727162T	SLC2A10	NM_030777.4(SLC2A10):c.1411+175_1411+176insTTTTACATCA	noncoding	Benign
20	48942310	CT	C	T48942316A	ARFGEF2	NM_006420.3(ARFGEF2):c.276+329del	noncoding	Benign
20	48984728	GGTTCAACA	G	G48984729A	ARFGEF2	NM_006420.3(ARFGEF2):c.1959_1966del:p.Phe654fs	noncoding	Pathogenic
20	49011831	A	ATG	C49011852T	ARFGEF2	NM_006420.3(ARFGEF2):c.3758-92TG[11]	noncoding	Benign
20	49016572	G	GC	A49016581C	ARFGEF2	NM_006420.3(ARFGEF2):c.4315+165dup	noncoding	Benign
20	49017469	A	AT	C49017478T	ARFGEF2	NM_006420.3(ARFGEF2):c.4455-19dup	noncoding	Benign
20	49028465	G	GT	C49028467T	ARFGEF2	NM_006420.3(ARFGEF2):c.4925-64dup	noncoding	Benign
20	49248205	GTTCA	G	T49248211G	ZNFX1	NM_021035.3(ZNFX1):c.4815_4818del:p.Glu1606fs	coding	Pathogenic
20	49255913	C	CA	T49255914A	ZNFX1	NM_021035.3(ZNFX1):c.2698_2699insT:p.Arg900fs	coding	Pathogenic
20	49270187	TGA	T	A49270191T	ZNFX1	NM_021035.3(ZNFX1):c.1623_1624del:p.His542fs	coding	Pathogenic
20	49271316	T	TA	G49271317A	ZNFX1	NM_021035.3(ZNFX1):c.495_496insT:p.Thr166fs	coding	Pathogenic
20	49374056	T	TA	C49374058A	KCNB1	NM_004975.4(KCNB1):c.1503dup:p.Lys502Ter	coding	Pathogenic
20	49374493	TCATCCTTCTCAG	T	T49374496A	KCNB1	NM_004975.4(KCNB1):c.1055_1066del:p.Ala352_Asp355del	coding	Pathogenic
20	49568117	C	CGCGGGGCTGGCGGGGCTG	C49568158G	PTGIS	Single_allele	coding	Benign
20	49568145	G	GCGGGGCTGGCGGGGCTGA	C49568158G	PTGIS	Single_allele	noncoding	Benign
20	50892080	ACTGT	A	T50892084A	ADNP	NM_001282531.3(ADNP):c.2630_2633del:p.Asp877fs	coding	Pathogenic
20	50892214	CTTTAT	C	T50892217A	ADNP	NM_001282531.3(ADNP):c.2495_2499del:p.Asn832fs	coding	Pathogenic
20	50892286	TCTTC	T	C50892290T	ADNP	NM_001282531.3(ADNP):c.2424_2427del:p.Lys809fs	coding	Pathogenic
20	50892546	TC	T	C50892548A	ADNP	NM_001282531.3(ADNP):c.2167del:p.Glu723fs	coding	Pathogenic
20	50892558	TA	T	A50892560G	ADNP	NM_001282531.3(ADNP):c.2155del:p.Tyr719fs	coding	Pathogenic
20	50892905	G	GAT	C50892910A	ADNP	NM_001282531.3(ADNP):c.1807_1808dup:p.Pro604fs	coding	Pathogenic
20	50893815	G	GA	T50893817A	ADNP	NM_001282531.3(ADNP):c.898dup:p.Ser300fs	coding	Pathogenic
20	50894057	ACT	A	C50894062T	ADNP	NM_001282531.3(ADNP):c.655_656del:p.Glu218_Ser219insTer	coding	Pathogenic
20	50894062	CTTCTCGGGCA	C	T50894066G	ADNP	NM_001282531.3(ADNP):c.642_651del:p.Asn214fs	coding	Pathogenic
20	50903901	T	TA	T50903902A	ADNP	NM_001282531.3(ADNP):c.95_96insT:p.Lys32fs	coding	Pathogenic
20	50903913	C	CA	C50903916A	ADNP	NM_001282531.3(ADNP):c.83dup:p.Leu28fs	coding	Pathogenic
20	50903927	T	TA	G50903930A	ADNP	NM_001282531.3(ADNP):c.69dup:p.Ser24Ter	coding	Pathogenic
20	50903932	A	AT	C50903940T	ADNP	NM_001282531.3(ADNP):c.64dup:p.Ile22fs	coding	Pathogenic/Likely_pathogenic
20	50948817	GA	G	A50948827G	DPM1	NM_003859.3(DPM1):c.262-156del	noncoding	Benign
20	50955272	CAT	C	T50955274G	DPM1	NM_003859.3(DPM1):c.173_174del:p.Asn57_Tyr58insTer	coding	Pathogenic
20	50958471	TC	T	C50958473A	DPM1	NM_003859.3(DPM1):c.52del:p.Glu18fs	coding	Pathogenic
20	51784019	C	CAA	G51784029A	SALL4	NM_020436.5(SALL4):c.*244_*245dup	noncoding	Benign
20	51784053	A	AT	A51784064T	SALL4	NM_020436.5(SALL4):c.*211dup	noncoding	Benign
20	51790523	G	GA	T51790526A	SALL4	NM_020436.5(SALL4):c.1959dup:p.Pro654fs	coding	Pathogenic
20	51791414	TG	T	G51791416A	SALL4	NM_020436.5(SALL4):c.1068del:p.Lys357fs	coding	Pathogenic
20	54159107	ATTAGACTG	A	A54159110T	CYP24A1	NM_000782.5(CYP24A1):c.999_1006del:p.Ser334fs	coding	Pathogenic
20	54164828	T	TA	G54164846A	CYP24A1	NM_000782.5(CYP24A1):c.733-282dup	noncoding	Benign
20	54173045	CA	C	A54173048G	CYP24A1	NM_000782.5(CYP24A1):c.312del:p.Phe104fs	coding	Pathogenic
20	54173079	AT	A	T54173080A	CYP24A1	NM_000782.5(CYP24A1):c.278del:p.Tyr93fs	coding	Pathogenic
20	54173517	CG	C	G54173519A	CYP24A1	NM_000782.5(CYP24A1):c.62del:p.Pro21fs	coding	Pathogenic/Likely_pathogenic
20	57173646	CATAAA	C	T57173653A	BMP7	NM_001719.3(BMP7):c.1036-341_1036-337del	noncoding	Benign
20	57183425	CT	C	T57183428C	BMP7	NM_001719.3(BMP7):c.958+296del	noncoding	Benign
20	57565020	C	CT	C57565030T	PCK1	NM_002591.4(PCK1):c.1319-11dup	noncoding	Benign
20	57565020	C	CTT	C57565030T	PCK1	NM_002591.4(PCK1):c.1319-12_1319-11dup	noncoding	Benign
20	58389207	C	CTGCGTGCG	C58389235G	VAPB	Single_allele	noncoding	Benign
20	58389302	A	AC	A58389312C	VAPB	NM_004738.5(VAPB):c.-149dup	noncoding	Benign/Likely_benign
20	58389302	A	ACC	A58389312C	VAPB	NM_004738.5(VAPB):c.-150_-149dup	noncoding	Benign
20	58434921	CT	C	T58434925C	VAPB	NM_004738.5(VAPB):c.315+220del	noncoding	Benign
20	58440983	GTTC	G	C58440989T	VAPB	NM_004738.5(VAPB):c.476CTT[1]:p.Ser160del	coding	Benign/Likely_benign
20	58444434	AAT	A	A58444435G	VAPB	NM_004738.5(VAPB):c.*200_*201del	noncoding	Benign
20	58444438	T	TTGAGGGGGAAAC	A58444439T	VAPB	NM_004738.5(VAPB):c.*203_*204insTGAGGGGGAAAC	noncoding	Benign
20	58444440	TAG	T	A58444441T	VAPB	NM_004738.5(VAPB):c.*206_*207del	noncoding	Benign
20	58444445	ACTG	A	C58444446A	VAPB	NM_004738.5(VAPB):c.*211_*213del	noncoding	Benign
20	58444449	A	AAG	T58444450A	VAPB	NM_004738.5(VAPB):c.*214_*215insAG	noncoding	Benign
20	58652371	A	AC	G58652383C	STX16	NM_001001433.3(STX16):c.132+244dup	noncoding	Benign
20	58659457	AAAG	A	A58659458G	STX16	NM_001001433.3(STX16):c.133-165_133-163del	noncoding	Benign
20	58669194	AG	A	G58669195A	STX16	NM_001001433.3(STX16):c.394-96del	noncoding	Benign
20	58671422	C	CT	A58671426T	STX16	NM_001001433.3(STX16):c.792+128dup	noncoding	Benign
20	58671424	T	TTTA	A58671426T	STX16	NM_001001433.3(STX16):c.792+128_792+129insTAT	noncoding	Benign
20	58671426	ATGTGTGTGTGGG	A	G58671437T	STX16	NM_001001433.3(STX16):c.792+140_792+151del	noncoding	Benign
20	58671427	TGTGTGTGTGG	T	G58671437T	STX16	NM_001001433.3(STX16):c.792+140_792+149del	noncoding	Benign
20	58671429	TGTGTGTGG	T	G58671437T	STX16	NM_001001433.3(STX16):c.792+140_792+147del	noncoding	Benign
20	58671431	TGTGTGG	T	G58671437T	STX16	NM_001001433.3(STX16):c.792+140_792+145del	noncoding	Benign
20	58671433	TGTGG	T	G58671437T	STX16	NM_001001433.3(STX16):c.792+140_792+143del	noncoding	Benign
20	58671435	TGG	T	G58671437T	STX16	NM_001001433.3(STX16):c.792+140_792+141del	noncoding	Benign
20	58854444	G	GGCAGCCCCT	A58854462T	GNAS	NM_016592.5(GNAS):c.*42+13567_*42+13575dup	coding	Benign
20	58854492	AGATCCCGACTCCGGGACAGCACCAGCC	A	C58854498T	GNAS	NM_016592.5(GNAS):c.*42+13612_*42+13638del	coding	Benign
20	58854641	C	CTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	A58854660C	GNAS	NM_016592.5(GNAS):c.*42+13773_*42+13774insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC	coding	Benign
20	58855492	C	CTT	G58855494T	GNAS	NM_016592.5(GNAS):c.*42+14607_*42+14608insTT	noncoding	Benign
20	58855652	AGGAACTGCCGGGGAGGGGCCCCGGGGCCCCG	A	A58855656C	GNAS	NM_016592.5(GNAS):c.*42+14770_*42+14800del	noncoding	Benign
20	58891240	A	AGCCGCC	G58891258C	GNAS	NM_016592.5(GNAS):c.*43-4371GCC[7]	noncoding	Benign
20	58891746	G	GT	A58891748T	GNAS	NM_000516.7(GNAS):c.21dup:p.Lys8Ter	coding	Pathogenic
20	58891836	AC	A	C58891838G	GNAS	NM_000516.7(GNAS):c.112del:p.Arg38fs	coding	Pathogenic
20	58891844	ACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGG	A	C58891845G	GNAS	NM_000516.7(GNAS):c.119_139+17del	coding	Pathogenic
20	58891877	CG	C	G58891883C	GNAS	NM_000516.7(GNAS):c.139+18del	noncoding	Benign
20	58895361	AAAATT	A	T58895365A	GNAS	NM_000516.7(GNAS):c.140-247_140-243del	noncoding	Benign
20	58898981	G	GA	T58898983A	GNAS	NM_000516.7(GNAS):c.254dup:p.Asp85fs	coding	Pathogenic
20	58903555	CA	C	A58903556T	GNAS	NM_000516.7(GNAS):c.283del:p.Ile95fs	coding	Pathogenic
20	58903572	AAG	A	A58903575G	GNAS	NM_000516.7(GNAS):c.302_303del:p.Glu101fs	coding	Pathogenic
20	58903583	GA	G	A58903585G	GNAS	NM_000516.7(GNAS):c.312delA:p.Thr105fs	coding	Pathogenic
20	58903701	GC	G	C58903707G	GNAS	NM_000516.7(GNAS):c.348del:p.Val117fs	coding	Pathogenic
20	58903788	TCCCGTAAGCTACAC	T	T58903793A	GNAS	NM_000516.7(GNAS):c.432+2_432+15del	coding	Pathogenic
20	58905407	CTG	C	T58905410G	GNAS	NM_000516.7(GNAS):c.460_461del:p.Trp154fs	coding	Pathogenic
20	58905465	TTGAC	T	A58905468T	GNAS	NM_000516.7(GNAS):c.518_521del:p.Asp173fs	coding	Pathogenic
20	58909198	CTA	C	A58909200G	GNAS	NM_000516.7(GNAS):c.569_570del:p.Tyr190fs	coding	Pathogenic
20	58909365	C	CG	T58909367G	GNAS	NM_000516.7(GNAS):c.602dup:p.Val202fs	coding	Pathogenic
20	58909380	GGA	G	G58909381A	GNAS	NM_000516.7(GNAS):c.617_618del:p.Gly206fs	coding	Pathogenic
20	58909655	CGCTCTTGGCTTTGCTC	ACCAAAGAGAGCAAAGCCAAG	C58909655A	GNAS	NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG	noncoding	Pathogenic
20	58910037	AG	A	G58910039A	GNAS	NM_000516.7(GNAS):c.928del:p.Asp310fs	coding	Pathogenic
20	58910375	A	AT	A58910376T	GNAS	NM_000516.7(GNAS):c.1012_1013insT:p.Lys338fs	coding	Pathogenic
20	58910417	CTTTA	C	T58910418G	GNAS	NM_000516.7(GNAS):c.1038+17_1038+20del	noncoding	Benign
20	58910711	G	GT	C58910713T	GNAS	NM_000516.7(GNAS):c.1068dup:p.His357fs	coding	Pathogenic
20	58910739	C	CGCTGTGGACACT	A58910753C	GNAS	NM_000516.7(GNAS):c.1097_1108dup:p.Thr369_Glu370insAlaValAspThr	coding	Pathogenic
20	58910750	CTG	C	T58910751A	GNAS	NM_000516.7(GNAS):c.1107_1108del:p.Asn371fs	coding	Pathogenic
20	58910764	CGT	C	G58910769T	GNAS	NM_000516.7(GNAS):c.1125_1126del:p.Phe376fs	coding	Pathogenic
20	59023277	C	CAA	T59023278A	TUBB1	NM_030773.4(TUBB1):c.167-213_167-212insAA	noncoding	Benign
20	59324598	AC	A	C59324608A	EDN3	NM_207034.3(EDN3):c.*149del	noncoding	Benign
20	59877463	GTTTTT	G	T59877468G	SYCP2	NM_014258.4(SYCP2):c.3067_3071del:p.Lys1023fs	coding	Pathogenic/Likely_pathogenic
20	59880446	TTTTTC	T	C59880451G	SYCP2	NM_014258.4(SYCP2):c.2793_2797del:p.Lys932fs	coding	Pathogenic/Likely_pathogenic
20	59892328	GTTCT	G	T59892334A	SYCP2	NM_014258.4(SYCP2):c.2022_2025del:p.Lys674fs	coding	Pathogenic/Likely_pathogenic
20	62065249	TGCCAGG	T	A62065259G	TAF4	NM_003185.4(TAF4):c.550CCTGGC[1]:p.172PG[7]	coding	Benign
20	62165528	CTG	C	T62165529C	SS18L1	NM_198935.3(SS18L1):c.916+15_916+16del	noncoding	Benign
20	62165531	CGTGCTGGGCTCGA	C	T62165533C	SS18L1	NM_198935.3(SS18L1):c.916+19_916+31del	noncoding	Benign
20	62174351	GC	G	C62174353A	SS18L1	NM_198935.3(SS18L1):c.1037-164del	noncoding	Benign
20	62259751	GGCACTGGAGCTCGCTGGGA	G	A62259754G	OSBPL2	NM_144498.4(OSBPL2):c.38-227_38-209del	noncoding	Benign
20	62291826	A	AGCGGGGAGGCCCCACACACACCTGGGGACG	T62291925G	OSBPL2	NM_144498.4(OSBPL2):c.1340+34GCGGGGAGGCCCCACACACACCTGGGGACG[4]	noncoding	Benign
20	62313988	AGT	A	T62313990G	LAMA5	NM_005560.6(LAMA5):c.8505-188_8505-187del	noncoding	Benign
20	62320547	T	TG	C62320552G	LAMA5	NM_005560.6(LAMA5):c.6759+8dup	noncoding	Benign
20	62322219	AC	A	C62322223A	LAMA5	NM_005560.6(LAMA5):c.6346+49del	noncoding	Benign
20	62328627	ACAT	A	A62328632G	LAMA5	NM_005560.6(LAMA5):c.4448-185_4448-183del	noncoding	Benign
20	62329365	GCAGCCCAGCCCAGCC	G	A62329377T	LAMA5	NM_005560.6(LAMA5):c.4120-137GGCTG[2]	noncoding	Benign
20	62329365	GCAGCC	G	A62329387T	LAMA5	NM_005560.6(LAMA5):c.4120-137GGCTG[4]	noncoding	Benign
20	62331199	T	TGGGGGGGTGCAGGTGGTACGATG	C62331213T	LAMA5	NM_005560.6(LAMA5):c.3553-71_3553-70insCCTGCACCCCCCCCATCGTACCA	noncoding	Benign
20	62332926	T	TGCAGGAG	G62332953A	LAMA5	NM_005560.6(LAMA5):c.3282+143CTCCTGC[4]	noncoding	Benign
20	62332926	T	TGCAGGAGGCAGGAG	G62332953A	LAMA5	NM_005560.6(LAMA5):c.3282+143CTCCTGC[5]	noncoding	Benign
20	62332926	T	TGCAGGAGGCAGGAGGCAGGAG	G62332953A	LAMA5	NM_005560.6(LAMA5):c.3282+143CTCCTGC[6]	noncoding	Benign
20	62332926	T	TGCAGGAGGCAGGAGGCAGGAGGCAGGAG	G62332953A	LAMA5	NM_005560.6(LAMA5):c.3282+143CTCCTGC[7]	noncoding	Benign
20	62333836	A	AGTGGG	C62333857G	LAMA5	NM_005560.6(LAMA5):c.2878+45CCCAC[5]	noncoding	Benign
20	62333852	G	GTGGGC	T62333866G	LAMA5	NM_005560.6(LAMA5):c.2878+39GCCCA[3]	noncoding	Benign
20	62334730	G	GTCAGGGC	G62334759T	LAMA5	NM_005560.6(LAMA5):c.2483-137GCCCTGA[5]	noncoding	Benign
20	62347246	GA	G	A62347248T	LAMA5	NM_005560.6(LAMA5):c.957-219del	noncoding	Benign
20	62351544	GCA	G	A62351550G	LAMA5	NM_005560.6(LAMA5):c.956+154TG[2]	noncoding	Benign
20	62351677	CGGGGCCTCACCTGAAT	C	T62351693C	LAMA5	NM_005560.6(LAMA5):c.956+11_956+26del	noncoding	Benign
20	62817426	GC	G	C62817427T	COL9A3	NM_001853.4(COL9A3):c.79-140del	noncoding	Benign
20	62819308	C	CCCT	C62819314T	COL9A3	NM_001853.4(COL9A3):c.255+18_255+20dup	noncoding	Benign/Likely_benign
20	62821486	AC	A	C62821490A	COL9A3	NM_001853.4(COL9A3):c.346-17del	noncoding	Benign
20	62821514	GC	G	C62821516T	COL9A3	NM_001853.4(COL9A3):c.355del:p.Leu119fs	coding	Pathogenic
20	62822830	CCCT	C	C62822835A	COL9A3	NM_001853.4(COL9A3):c.519+203_519+205del	noncoding	Benign
20	62824327	TC	T	C62824330G	COL9A3	NM_001853.4(COL9A3):c.520-115del	noncoding	Benign
20	62825164	TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCG	T	G62825166C	COL9A3	NM_001853.4(COL9A3):c.630+145_630+176del	noncoding	Benign
20	62825827	G	GC	T62825834C	COL9A3	NM_001853.4(COL9A3):c.647dup:p.Gly217fs	coding	Pathogenic
20	62829561	T	TG	C62829568G	COL9A3	NM_001853.4(COL9A3):c.1054-61dup	noncoding	Benign
20	62830373	CACAAGGCCCTCCCGGAGCCCCTG	C	A62830374G	COL9A3	NM_001853.4(COL9A3):c.1176_1198del:p.Gln393fs	coding	Pathogenic
20	62830443	T	TG	C62830450G	COL9A3	NM_001853.4(COL9A3):c.1215+36dup	noncoding	Benign/Likely_benign
20	62830657	C	CCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCT	A62830658C	COL9A3	NM_001853.4(COL9A3):c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCT	noncoding	Benign
20	62830790	AC	A	C62830796A	COL9A3	NM_001853.4(COL9A3):c.1287+208del	noncoding	Benign
20	62832913	TAA	T	A62832914G	COL9A3	NM_001853.4(COL9A3):c.1324-106_1324-105del	noncoding	Benign
20	62836560	GCGGGGCCCATCCC	G	G62836563C	COL9A3	NM_001853.4(COL9A3):c.1603+31_1603+43del	noncoding	Benign
20	62840252	TACTC	T	T62840255A	COL9A3	NM_001853.4(COL9A3):c.1865-287_1865-284del	noncoding	Benign
20	62840394	C	CCT	G62840395C	COL9A3	NM_001853.4(COL9A3):c.1865-148_1865-147insCT	noncoding	Benign
20	62840763	C	CAA	G62840764A	COL9A3	NM_001853.4(COL9A3):c.*31_*32insAA	noncoding	Benign
20	62840764	GCC	G	C62840766G	COL9A3	NM_001853.4(COL9A3):c.*34_*35del	noncoding	Benign
20	63351185	GT	G	T63351186C	CHRNA4	NM_000744.7(CHRNA4):c.384-159del	noncoding	Benign
20	63351187	C	CCACGT	C63351189A	CHRNA4	NM_000744.7(CHRNA4):c.384-161_384-160insGACGT	noncoding	Benign
20	63351198	A	AGCCACGCCCCACGCCCACAGCCACGCCCACGCCCCACG	T63351199G	CHRNA4	NM_000744.7(CHRNA4):c.384-172_384-171insCGTGGGGCGTGGGCGTGGCTGTGGGCGTGGGGCGTGGC	noncoding	Benign
20	63351232	A	ATGCCCCCGTC	C63351233T	CHRNA4	NM_000744.7(CHRNA4):c.384-206_384-205insGACGGGGGCA	noncoding	Benign
20	63351234	A	ATCCATG	C63351235T	CHRNA4	NM_000744.7(CHRNA4):c.384-208_384-207insCATGGA	noncoding	Benign
20	63351235	C	CGT	C63351236G	CHRNA4	NM_000744.7(CHRNA4):c.384-209_384-208insAC	noncoding	Benign
20	63355942	CTGTAGAGGACTCACTTGT	C	T63355971G	CHRNA4	NM_000744.7(CHRNA4):c.383+15_383+32del	noncoding	Benign/Likely_benign
20	63359866	GCT	G	C63359869G	CHRNA4	NM_000744.7(CHRNA4):c.77-169_77-168del	noncoding	Benign
20	63359869	CTG	C	T63359884C	CHRNA4	NM_000744.7(CHRNA4):c.77-186CA[7]	noncoding	Benign
20	63359884	T	TGC	C63359887G	CHRNA4	NM_000744.7(CHRNA4):c.77-187_77-186dup	noncoding	Benign
20	63359884	T	TGCGC	C63359887G	CHRNA4	NM_000744.7(CHRNA4):c.77-186_77-185insGCGC	noncoding	Benign
20	63359884	T	TGTGC	C63359886T	CHRNA4	NM_000744.7(CHRNA4):c.77-186_77-185insCGCA	noncoding	Benign
20	63359897	C	CTG	C63359930T	CHRNA4	NM_000744.7(CHRNA4):c.77-230CA[17]	noncoding	Benign
20	63359897	C	CTGTGTGTG	C63359930T	CHRNA4	NM_000744.7(CHRNA4):c.77-230CA[20]	noncoding	Benign
20	63359897	C	CTGTGTGTGTG	C63359930T	CHRNA4	NM_000744.7(CHRNA4):c.77-230CA[21]	noncoding	Benign
20	63359897	CTGTGTGTGTG	C	T63359920C	CHRNA4	NM_000744.7(CHRNA4):c.77-230CA[11]	noncoding	Benign
20	63359905	G	GTGTGTGTGTGTGCCGGGCGTGCGC	T63359918C	CHRNA4	NM_000744.7(CHRNA4):c.77-207_77-206insCACACACACACAGCGCACGCCCGG	noncoding	Benign
20	63359913	G	GCCGGGCGTGCGCTGTGTA	T63359914C	CHRNA4	NM_000744.7(CHRNA4):c.77-215_77-214insTACACAGCGCACGCCCGG	noncoding	Benign
20	63406659	G	GGCCCA	C63406670G	KCNQ2	NM_172107.4(KCNQ2):c.2599_2603dup:p.Arg871fs	coding	Pathogenic/Likely_pathogenic
20	63406688	CGCCGGTG	C	G63406693A	KCNQ2	NM_172107.4(KCNQ2):c.2568_2574del:p.Thr857fs	coding	Pathogenic
20	63406706	G	GTACCCGC	C63406707T	KCNQ2	NM_172107.4(KCNQ2):c.2556_2557insGCGGGTA:p.Pro853fs	coding	Pathogenic
20	63406729	AG	A	G63406731T	KCNQ2	NM_172107.4(KCNQ2):c.2533del:p.Leu845fs	coding	Pathogenic
20	63406775	CTT	C	T63406777G	KCNQ2	NM_172107.4(KCNQ2):c.2486_2487del:p.Lys829fs	coding	Pathogenic
20	63406844	TG	T	G63406845C	KCNQ2	NM_172107.4(KCNQ2):c.2418del:p.Ser806fs	coding	Pathogenic
20	63406859	AG	A	G63406861A	KCNQ2	NM_172107.4(KCNQ2):c.2403del:p.Phe802fs	coding	Pathogenic
20	63406923	GT	G	T63406925C	KCNQ2	NM_172107.4(KCNQ2):c.2339del:p.Asn780fs	coding	Pathogenic
20	63406941	GC	G	C63406942A	KCNQ2	NM_172107.4(KCNQ2):c.2321del:p.Cys774fs	coding	Pathogenic
20	63406947	CG	C	G63406951T	KCNQ2	NM_172107.4(KCNQ2):c.2315del:p.Pro772fs	coding	Pathogenic
20	63407058	GT	G	T63407059C	KCNQ2	NM_172107.4(KCNQ2):c.2204del:p.Asp735fs	coding	Pathogenic
20	63407230	TC	T	C63407233G	KCNQ2	NM_172107.4(KCNQ2):c.2032del:p.Glu678fs	coding	Pathogenic
20	63407296	TC	T	C63407297G	KCNQ2	NM_172107.4(KCNQ2):c.1966del:p.Glu656fs	coding	Pathogenic
20	63407354	GCTT	G	T63407360C	KCNQ2	NM_172107.4(KCNQ2):c.1903AAG[1]:p.Lys636del	coding	Pathogenic
20	63413760	GAC	G	C63413762G	KCNQ2	NM_172107.4(KCNQ2):c.1632-181_1632-180del	noncoding	Benign
20	63414157	T	TTGTC	A63414162T	KCNQ2	NM_172107.4(KCNQ2):c.1558_1561dup:p.Lys521fs	coding	Pathogenic
20	63414195	TG	T	G63414201A	KCNQ2	NM_172107.4(KCNQ2):c.1526-3del	noncoding	Benign
20	63414195	T	TG	A63414202G	KCNQ2	NM_172107.4(KCNQ2):c.1526-8dup	noncoding	Benign/Likely_benign
20	63415085	CG	C	G63415090C	KCNQ2	NM_172107.4(KCNQ2):c.1342del:p.Arg448fs	coding	Pathogenic
20	63415143	C	CGACA	A63415158C	KCNQ2	NM_172107.4(KCNQ2):c.1302-29TGTC[4]	noncoding	Benign
20	63415143	C	CGACAGACAGACA	A63415158C	KCNQ2	NM_172107.4(KCNQ2):c.1302-29TGTC[6]	noncoding	Benign
20	63415144	G	GACAGACAA	G63415152A	KCNQ2	NM_172107.4(KCNQ2):c.1302-19_1302-18insTGTCTGTT	noncoding	Benign
20	63419885	G	GT	C63419896T	KCNQ2	NM_172107.4(KCNQ2):c.1248-223dup	noncoding	Benign
20	63428364	GA	CT	G63428364C	KCNQ2	NM_172107.4(KCNQ2):c.1217+2_1217+3delinsAG	noncoding	Pathogenic
20	63428368	TG	T	G63428369A	KCNQ2	NM_172107.4(KCNQ2):c.1215del:p.Phe405fs	coding	Pathogenic
20	63428423	C	CG	A63428430G	KCNQ2	NM_172107.4(KCNQ2):c.1160dup:p.Leu388fs	coding	Pathogenic
20	63428429	GA	G	A63428430T	KCNQ2	NM_172107.4(KCNQ2):c.1154del:p.Ile385fs	coding	Pathogenic
20	63428454	AG	A	G63428458A	KCNQ2	NM_172107.4(KCNQ2):c.1149-20del	noncoding	Benign
20	63433812	T	TA	C63433814A	KCNQ2	NM_172107.4(KCNQ2):c.1114dup:p.Tyr372fs	coding	Pathogenic
20	63433813	AC	A	C63433814A	KCNQ2	NM_172107.4(KCNQ2):c.1113del:p.Met371fs	coding	Pathogenic
20	63433870	GC	CG	G63433870C	KCNQ2	NM_172107.4(KCNQ2):c.1056_1057delinsCG:p.Arg353Gly	coding	Pathogenic
20	63438638	G	GCTGC	G63438644T	KCNQ2	NM_172107.4(KCNQ2):c.1006_1009dup:p.Ala337fs	coding	Pathogenic
20	63438680	TG	T	G63438681C	KCNQ2	NM_172107.4(KCNQ2):c.967del:p.Gln323fs	coding	Pathogenic
20	63439609	CGAA	C	A63439614G	KCNQ2	NM_172107.4(KCNQ2):c.910TTC[1]:p.Phe305del	coding	Pathogenic/Likely_pathogenic
20	63439641	GC	G	C63439643G	KCNQ2	NM_172107.4(KCNQ2):c.883del:p.Ala295fs	coding	Pathogenic
20	63439668	TG	T	G63439673T	KCNQ2	NM_172107.4(KCNQ2):c.856del:p.Gln286fs	coding	Pathogenic
20	63442512	TACCAGGCAGTG	T	G63442518C	KCNQ2	NM_172107.4(KCNQ2):c.699_709del:p.Thr234fs	coding	Pathogenic
20	63444704	TC	T	C63444708G	KCNQ2	NM_172107.4(KCNQ2):c.644del:p.Gly215fs	coding	Pathogenic
20	63444738	TG	T	G63444739C	KCNQ2	NM_172107.4(KCNQ2):c.610del:p.Gln204fs	coding	Pathogenic
20	63445258	C	CG	C63445262G	KCNQ2	NM_172107.4(KCNQ2):c.493dup:p.Arg165fs	coding	Pathogenic
20	63445292	AC	A	C63445294G	KCNQ2	NM_172107.4(KCNQ2):c.459del:p.Tyr154fs	coding	Pathogenic
20	63445319	TC	T	C63445321G	KCNQ2	NM_172107.4(KCNQ2):c.432del:p.Ile145fs	coding	Pathogenic
20	63445350	GA	G	A63445351T	KCNQ2	NM_172107.4(KCNQ2):c.401del:p.Ile134fs	coding	Pathogenic
20	63445503	C	CCCCCAAAGGG	C63445508A	KCNQ2	NM_172107.4(KCNQ2):c.388-140_388-139insGGGGCCCTTT	noncoding	Benign
20	63445661	GCA	G	C63445662G	KCNQ2	NM_172107.4(KCNQ2):c.388-299_388-298del	noncoding	Benign
20	63445668	T	TG	C63445670G	KCNQ2	NM_172107.4(KCNQ2):c.388-305dup	noncoding	Benign
20	63446761	CCCCCTCCGAG	C	C63446763T	KCNQ2	NM_172107.4(KCNQ2):c.363_372del:p.Ser121fs	coding	Pathogenic
20	63446839	TG	T	G63446844C	KCNQ2	NM_172107.4(KCNQ2):c.297-3del	noncoding	Benign
20	63472240	CG	C	G63472242T	KCNQ2	NM_172107.4(KCNQ2):c.223del:p.Arg75fs	coding	Pathogenic
20	63472247	A	AG	C63472250G	KCNQ2	NM_172107.4(KCNQ2):c.216dup:p.Phe73fs	coding	Pathogenic
20	63472267	TTC	T	T63472268C	KCNQ2	NM_172107.4(KCNQ2):c.195_196del:p.Lys66fs	coding	Pathogenic
20	63472292	GA	TT	G63472292T	KCNQ2	NM_172107.4(KCNQ2):c.171_172delinsAA:p.Arg58Ser	coding	Pathogenic
20	63472319	T	TG	C63472325G	KCNQ2	NM_172107.4(KCNQ2):c.144dup:p.Lys49fs	coding	Pathogenic/Likely_pathogenic
20	63472343	GCA	G	C63472344G	KCNQ2	NM_172107.4(KCNQ2):c.119_120del:p.Leu40fs	coding	Pathogenic
20	63488434	CG	C	G63488440C	EEF1A2	NM_001958.5(EEF1A2):c.1265-10del	noncoding	Benign/Likely_benign
20	63488469	AC	A	C63488477A	EEF1A2	NM_001958.5(EEF1A2):c.1265-45del	noncoding	Benign
20	63490904	AG	A	G63490907C	EEF1A2	NM_001958.5(EEF1A2):c.773-170del	noncoding	Benign
20	63492829	A	AATGG	G63492851T	EEF1A2	NM_001958.5(EEF1A2):c.772+288CCAT[6]	noncoding	Benign
20	63659405	G	GCCCAAGATAGTCCTGAATGGTGTGACCGTAGACTTCCCTTTCC	A63659449C	RTEL1	NM_001283009.2(RTEL1):c.4_46dup:p.Gln16fs	coding	Pathogenic
20	63659410	AG	A	G63659411A	RTEL1	NM_001283009.2(RTEL1):c.9del:p.Lys3_Ile4insTer	coding	Pathogenic
20	63661873	ATTAT	A	T63661877C	RTEL1	NM_001283009.2(RTEL1):c.329_332del:p.Ile110fs	coding	Pathogenic
20	63662584	G	GCATC	T63662594A	RTEL1	NM_001283009.2(RTEL1):c.440_443dup:p.Glu149fs	coding	Pathogenic
20	63662587	TC	T	C63662589A	RTEL1	NM_001283009.2(RTEL1):c.439del:p.His147fs	coding	Pathogenic
20	63662607	CAA	C	A63662608G	RTEL1	NM_001283009.2(RTEL1):c.458_459del:p.Gln153fs	coding	Pathogenic/Likely_pathogenic
20	63674008	CAT	C	T63674010G	RTEL1	NM_001283009.2(RTEL1):c.836_837del:p.Ile279fs	coding	Pathogenic
20	63674070	TC	T	C63674071A	RTEL1	NM_001283009.2(RTEL1):c.897del:p.Phe299fs	coding	Pathogenic/Likely_pathogenic
20	63674129	T	TGCGCTGCTGCAGGGTGAGCCCCACCCGGAGTTCAGCACGGACTCCCCCAGCCCAGGTGTGTTCATAGCCAGGCTGCTTGGTCCTGAGGCCC	C63674188T	RTEL1	NM_001283009.2(RTEL1):c.919+94_919+95insTGTTCATAGCCAGGCTGCTTGGTCCTGAGGCCCGCGCTGCTGCAGGGTGAGCCCCACCCGGAGTTCAGCACGGACTCCCCCAGCCCAGGTG	noncoding	Benign
20	63678291	GC	G	C63678293A	RTEL1	NM_001283009.2(RTEL1):c.984del:p.Ile329fs	coding	Pathogenic
20	63685523	AT	A	T63685525G	RTEL1	NM_001283009.2(RTEL1):c.1194del:p.Ile398fs	coding	Pathogenic
20	63685546	CG	C	G63685547A	RTEL1	NM_001283009.2(RTEL1):c.1216del:p.Glu406fs	coding	Pathogenic
20	63685574	C	CT	G63685576T	RTEL1	NM_001283009.2(RTEL1):c.1244dup:p.Ala417fs	coding	Pathogenic
20	63687745	TC	T	C63687747T	RTEL1	NM_001283009.2(RTEL1):c.1458del:p.Ser487fs	coding	Pathogenic
20	63687813	C	CTT	G63687815T	RTEL1	NM_001283009.2(RTEL1):c.1481+44_1481+45insTT	noncoding	Benign
20	63687854	C	CGGG	T63687858G	RTEL1	NM_001283009.2(RTEL1):c.1482-82_1482-80dup	noncoding	Benign
20	63689509	A	AG	C63689514G	RTEL1	NM_001283009.2(RTEL1):c.1890dup:p.Leu631fs	coding	Pathogenic
20	63689581	A	AC	G63689587C	RTEL1	NM_001283009.2(RTEL1):c.1963dup:p.Arg655fs	coding	Pathogenic/Likely_pathogenic
20	63689820	TC	T	C63689822G	RTEL1	NM_001283009.2(RTEL1):c.2098del:p.Arg700fs	coding	Pathogenic
20	63690276	A	AC	A63690282C	RTEL1	NM_001283009.2(RTEL1):c.2266-13dup	noncoding	Benign
20	63690296	GC	G	C63690298A	RTEL1	NM_001283009.2(RTEL1):c.2270del:p.Pro757fs	coding	Pathogenic
20	63690414	GT	G	T63690415C	RTEL1	NM_001283009.2(RTEL1):c.2387del:p.Val796fs	coding	Pathogenic
20	63691768	CCTGTCTGAGA	C	C63691769A	RTEL1	NM_001283009.2(RTEL1):c.2584_2593del:p.Leu862fs	coding	Pathogenic
20	63691818	TC	T	C63691820G	RTEL1	NM_001283009.2(RTEL1):c.2635del:p.Arg879fs	coding	Pathogenic/Likely_pathogenic
20	63692822	TGCACAGACGGACAGGG	T	G63692823C	RTEL1	NM_001283009.2(RTEL1):c.2671_2686del:p.Ala891fs	coding	Pathogenic
20	63693243	TC	T	C63693247G	RTEL1	NM_001283009.2(RTEL1):c.2956del:p.Arg986fs	coding	Pathogenic
20	63694447	ACCAGGGCAGGCCCCACCTGTCGC	A	G63694453C	RTEL1	NM_001283009.2(RTEL1):c.3074_3096del:p.Gly1025fs	coding	Pathogenic
20	63694764	TG	T	G63694769T	RTEL1	NM_001283009.2(RTEL1):c.3138del:p.Ser1047fs	coding	Pathogenic
20	63695057	TC	T	C63695061G	RTEL1	NM_001283009.2(RTEL1):c.3344-5del	noncoding	Benign
20	63695110	C	CA	G63695112A	RTEL1	NM_001283009.2(RTEL1):c.3389dup:p.Thr1131fs	coding	Pathogenic
20	63695379	TC	T	C63695381T	RTEL1	NM_001283009.2(RTEL1):c.3553del:p.Arg1186fs	coding	Pathogenic
20	63695452	TC	T	C63695456A	RTEL1	NM_001283009.2(RTEL1):c.3628del:p.His1210fs	coding	Pathogenic
20	63695498	GAC	G	C63695500T	RTEL1	NM_001283009.2(RTEL1):c.3672_3673del:p.Ile1225fs	coding	Pathogenic
20	63695551	CTG	C	T63695558C	RTEL1	NM_001283009.2(RTEL1):c.3730_3731del:p.Cys1244fs	coding	Pathogenic/Likely_pathogenic
20	63695599	CCCTG	C	C63695604T	RTEL1	NM_001283009.2(RTEL1):c.3776_3779del:p.Ala1259fs	coding	Pathogenic
20	63695602	TGC	T	G63695603C	RTEL1	NM_001283009.2(RTEL1):c.3775_3776del:p.Ala1259fs	coding	Pathogenic
20	63929684	A	ACCCGAGTCACTCCTGCCGTGCGGGCG	A63929736G	DNAJC5	NM_025219.3(DNAJC5):c.321+185_321+210dup	noncoding	Benign
20	63930842	T	TC	A63930849C	DNAJC5	NM_025219.3(DNAJC5):c.322-3dup	noncoding	Benign
20	63995102	CA	C	A63995108G	PRPF6	NM_012469.4(PRPF6):c.615+16del	noncoding	Benign
20	64028584	CGACTCCGGTAAGGGGGTGCCCT	C	C64028605T	PRPF6	NM_012469.4(PRPF6):c.2431+36_2431+57del	noncoding	Benign
20	64029497	T	TG	C64029502G	PRPF6	NM_012469.4(PRPF6):c.2546+10dup	noncoding	Benign
20	64032832	T	TC	A64032839C	PRPF6	NM_012469.4(PRPF6):c.2674-3dup	noncoding	Benign
21	14109087	AAG	A	G14109091A	LIPI	NM_001302998.2(LIPI):c.1296-9_1296-8del	noncoding	Benign
21	14189118	A	ACCC	G14189123C	LIPI	NM_001302998.2(LIPI):c.345_347dup:p.Gly116dup	coding	Benign
21	18275292	A	ATGAT	A18275294G	TMPRSS15	NM_002772.3(TMPRSS15):c.2808_2809insATCA:p.Ser937fs	coding	Pathogenic
21	18294430	GT	G	T18294437C	TMPRSS15	NM_002772.3(TMPRSS15):c.2325del:p.Lys775fs	coding	Pathogenic/Likely_pathogenic
21	18294619	TA	T	A18294621C	TMPRSS15	NM_002772.3(TMPRSS15):c.2294del:p.Leu765fs	coding	Pathogenic/Likely_pathogenic
21	18341464	TC	T	C18341467A	TMPRSS15	NM_002772.3(TMPRSS15):c.1512del:p.Ser505fs	coding	Pathogenic
21	18343583	C	CT	G18343585T	TMPRSS15	NM_002772.3(TMPRSS15):c.1350dup:p.Val451fs	coding	Pathogenic
21	25599860	GA	G	A25599863T	MRPL39	NM_017446.4(MRPL39):c.526del:p.Ser176fs	coding	Pathogenic
21	25709210	T	TG	A25709211G	JAM2	NM_021219.4(JAM2):c.806-224_806-223insG	noncoding	Benign
21	25714626	CT	C	T25714629C	JAM2	NM_021219.4(JAM2):c.865-11del	noncoding	Benign
21	25891787	TC	CA	T25891787C	APP	NM_000484.4(APP):c.2145_2146delinsTG:p.Ile716Val	coding	Pathogenic
21	25892046	TAA	T	A25892064G	APP	NM_000484.4(APP):c.2065-180_2065-179del	noncoding	Benign
21	25892046	TA	T	A25892065G	APP	NM_000484.4(APP):c.2065-179del	noncoding	Benign
21	25954855	CA	C	A25954859C	APP	NM_000484.4(APP):c.1588-167del	noncoding	Benign
21	25954872	TA	T	A25954877G	APP	NM_000484.4(APP):c.1588-184del	noncoding	Benign
21	25954933	CT	C	T25954938G	APP	NM_000484.4(APP):c.1588-245del	noncoding	Benign
21	25954957	TG	T	G25954958A	APP	NM_000484.4(APP):c.1588-269del	noncoding	Benign
21	26051392	T	TAA	G26051393A	APP	NM_000484.4(APP):c.469-200_469-199insTT	noncoding	Benign
21	26139879	AAAAC	A	A26139918T	APP	NM_000484.4(APP):c.58-27773GTTT[9]	noncoding	Benign
21	26139879	AAAACAAAC	A	A26139914T	APP	NM_000484.4(APP):c.58-27773GTTT[8]	noncoding	Benign
21	26170924	AC	A	C26170925G	APP	NM_001136131.3(APP):c.-49+60del	noncoding	Benign
21	31663935	ATAAACAG	A	A31663938G	SOD1	NM_000454.5(SOD1):c.169+52_169+58del	noncoding	Benign
21	31668013	CT	C	T31668015A	SOD1	NM_000454.5(SOD1):c.358-456del	noncoding	Benign
21	31696737	CT	C	T31696738A	SCAF4	NM_020706.2(SCAF4):c.790del:p.Arg264fs	coding	Pathogenic
21	31701022	TG	T	G31701028A	SCAF4	NM_020706.2(SCAF4):c.749del:p.Pro250fs	coding	Pathogenic
21	31702325	C	CAA	T31702328A	SCAF4	NM_020706.2(SCAF4):c.374_375dup:p.Glu126fs	coding	Pathogenic
21	32299080	A	AT	A32299081T	MRAP	NM_001379228.1(MRAP):c.106+3_106+4insT	noncoding	Pathogenic
21	32607594	CA	C	A32607611C	CFAP298	NM_021254.4(CFAP298):c.375+54del	noncoding	Benign
21	32642150	GA	G	A32642159T	SYNJ1	NM_203446.3(SYNJ1):c.3479-18del	noncoding	Benign
21	32642432	C	CTT	G32642433T	SYNJ1	NM_203446.3(SYNJ1):c.3479-300_3479-299insAA	noncoding	Benign
21	32643449	C	CT	C32643451T	SYNJ1	NM_203446.3(SYNJ1):c.3438dup:p.Ala1147fs	coding	Pathogenic
21	32673366	TTGGG	T	G32673369C	SYNJ1	NM_203446.3(SYNJ1):c.1696_1699del:p.Pro566fs	coding	Pathogenic
21	32678627	AAT	A	T32678631A	SYNJ1	NM_203446.3(SYNJ1):c.1510+16_1510+17del	noncoding	Benign
21	32678629	TA	T	A32678630T	SYNJ1	NM_203446.3(SYNJ1):c.1510+15del	noncoding	Benign
21	32681568	T	TGA	C32681571G	SYNJ1	NM_203446.3(SYNJ1):c.1279_1280dup:p.Met428fs	coding	Pathogenic
21	32681592	A	AAGTT	G32681593A	SYNJ1	NM_203446.3(SYNJ1):c.1256_1257insAACT:p.Arg420fs	coding	Pathogenic
21	32685772	T	TA	T32685780A	SYNJ1	NM_203446.3(SYNJ1):c.1093dup:p.Tyr365fs	coding	Pathogenic
21	32685925	TA	T	A32685930G	SYNJ1	NM_203446.3(SYNJ1):c.949-9del	noncoding	Benign
21	32699971	TG	T	G32699972C	SYNJ1	NM_203446.3(SYNJ1):c.345del:p.Ile116fs	coding	Pathogenic
21	32700021	GT	G	T32700022A	SYNJ1	NM_203446.3(SYNJ1):c.295del:p.Thr99fs	coding	Pathogenic
21	32702051	CAA	C	A32702058G	SYNJ1	NM_203446.3(SYNJ1):c.125-6_125-5del	noncoding	Benign
21	32727788	C	CA	C32727791A	SYNJ1	NM_203446.3(SYNJ1):c.-23+156dup	noncoding	Benign
21	32728027	C	CAT	C32728030A	SYNJ1	NM_203446.2(SYNJ1):c.12_13dup:p.Trp5Tyrfs	coding	Pathogenic
21	33244934	TTTC	T	T33244942C	IFNAR2	NM_001289125.3(IFNAR2):c.98-16TTC[2]	noncoding	Benign
21	33246729	AT	A	T33246732G	IFNAR2	NM_001289125.3(IFNAR2):c.236del:p.Asp78_Leu79insTer	coding	Pathogenic
21	33262774	CT	C	T33262789A	IFNAR2	NM_001289125.3(IFNAR2):c.841-4del	noncoding	Benign
21	33288093	AC	A	C33288097T	IL10RB	NM_000628.5(IL10RB):c.647-7del	noncoding	Benign
21	33340976	CATTT	C	A33340977G	IFNAR1	NM_000629.3(IFNAR1):c.201-22_201-19del	noncoding	Benign
21	33340981	G	GT	A33340990T	IFNAR1	NM_000629.3(IFNAR1):c.201-10dup	noncoding	Benign
21	33426777	C	CTA	C33426794T	IFNGR2	NM_005534.4(IFNGR2):c.413-106TA[9]	noncoding	Benign
21	33432321	G	GA	C33432325A	IFNGR2	NM_005534.4(IFNGR2):c.709dup:p.Thr237fs	coding	Pathogenic
21	33432789	GT	G	T33432792C	IFNGR2	NM_005534.4(IFNGR2):c.800del:p.Phe267fs	coding	Pathogenic
21	33432886	ATC	A	C33432890T	IFNGR2	NM_005534.4(IFNGR2):c.879+19_879+20del	noncoding	Benign
21	33432888	C	CT	C33432890T	IFNGR2	NM_005534.4(IFNGR2):c.879+18dup	noncoding	Benign
21	33436736	T	TA	T33436742A	IFNGR2	NM_005534.4(IFNGR2):c.880-87dup	noncoding	Benign
21	33546251	CA	C	A33546252C	SON	NM_138927.4(SON):c.117del:p.Ile41fs	coding	Pathogenic
21	33550937	TGCCAGAGTTGCCAGGG	T	G33550938C	SON	NM_138927.4(SON):c.1707_1722del:p.Pro570fs	coding	Pathogenic
21	33551587	T	TTA	G33551590T	SON	NM_138927.4(SON):c.2357_2358dup:p.Ala787Ter	coding	Pathogenic
21	33551954	C	CA	T33551959A	SON	NM_138927.4(SON):c.2727dup:p.Ser910fs	coding	Pathogenic
21	33552195	TA	T	A33552196G	SON	NM_138927.4(SON):c.2965del:p.Arg989fs	coding	Pathogenic
21	33552268	T	TA	C33552270A	SON	NM_138927.4(SON):c.3038dup:p.Tyr1013Ter	coding	Pathogenic
21	33552386	CT	C	T33552387A	SON	NM_138927.4(SON):c.3156del:p.Met1053fs	coding	Pathogenic
21	33552563	AC	A	C33552565G	SON	NM_138927.4(SON):c.3334del:p.Arg1112fs	coding	Pathogenic
21	33552845	AAG	A	A33552848T	SON	NM_138927.4(SON):c.3617_3618del:p.Glu1206fs	coding	Pathogenic
21	33552917	A	ATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGAC	G33552973T	SON	NM_138927.4(SON):c.3688_3741dup:p.Tyr1230_Thr1247dup	coding	Benign/Likely_benign
21	33553078	TGTATG	T	G33553083C	SON	NM_138927.4(SON):c.3852_3856del:p.Met1284fs	coding	Pathogenic/Likely_pathogenic
21	33553199	CAGAAGTA	GTTGGT	C33553199G	SON	NM_138927.4(SON):c.3968_3975delinsGTTGGT:p.Ser1323fs	coding	Pathogenic
21	33553426	GAGCC	G	C33553429A	SON	NM_138927.4(SON):c.4198_4201del:p.Pro1400fs	coding	Pathogenic
21	33553739	AG	A	G33553741A	SON	NM_138927.4(SON):c.4510del:p.Glu1504fs	coding	Pathogenic
21	33554687	ACT	A	C33554690T	SON	NM_138927.4(SON):c.5459_5460del:p.Ser1820fs	coding	Pathogenic
21	33554764	T	ACG	T33554764A	SON	NM_138927.4(SON):c.5533delinsACG:p.Ser1845fs	coding	Pathogenic
21	33554891	CAAAAG	C	A33554893G	SON	NM_138927.4(SON):c.5662_5666del:p.Lys1888fs	coding	Pathogenic
21	33559206	TTTTG	T	G33559214T	SON	NM_138927.4(SON):c.6322-16_6322-13del	noncoding	Benign
21	33576188	C	CT	A33576190T	SON	NM_138927.4(SON):c.7222-176dup	noncoding	Benign
21	33576202	C	CT	C33576206T	SON	NM_138927.4(SON):c.7222-160dup	noncoding	Benign
21	33576225	C	CT	G33576226T	SON	NM_138927.4(SON):c.7222-140_7222-139insT	noncoding	Benign
21	33576378	G	GA	G33576380A	SON	NM_138927.4(SON):c.7236dup:p.Ala2413fs	coding	Benign
21	33576390	GA	G	A33576391C	SON	NM_138927.4(SON):c.7248del:p.Arg2416fs	coding	Benign
21	33579348	AC	A	C33579350A	DONSON	NM_017613.4(DONSON):c.1563+1del	noncoding	Pathogenic
21	33579544	TCA	T	C33579547T	DONSON	NM_017613.4(DONSON):c.1367_1368del:p.Val456fs	coding	Pathogenic
21	33581150	TTATA	T	T33581153A	DONSON	NM_017613.4(DONSON):c.1350+148_1350+151del	noncoding	Benign
21	33582014	G	GAA	C33582020A	DONSON	NM_017613.4(DONSON):c.1086_1087dup:p.Ser363fs	coding	Pathogenic
21	33582296	AG	A	G33582298C	DONSON	NM_017613.4(DONSON):c.965-51del	noncoding	Benign
21	33588600	C	CT	C33588604T	DONSON	NM_017613.4(DONSON):c.41dup:p.Pro15fs	coding	Pathogenic
21	33722544	G	GT	C33722560T	ITSN1	NM_003024.3(ITSN1):c.122-29dup	noncoding	Benign
21	33722544	GT	G	T33722559C	ITSN1	NM_003024.3(ITSN1):c.122-29del	noncoding	Benign
21	33750268	CT	C	T33750269G	ITSN1	NM_003024.3(ITSN1):c.473del:p.Leu158fs	coding	Pathogenic
21	33761779	G	GC	T33761784C	ITSN1	NM_003024.3(ITSN1):c.725-140dup	noncoding	Benign
21	33813823	C	CT	G33813838T	ITSN1	NM_003024.3(ITSN1):c.2568-76dup	noncoding	Benign
21	33819082	T	TA	C33819084A	ITSN1	NM_003024.3(ITSN1):c.2934-158dup	noncoding	Benign
21	33883894	G	GT	A33883918T	ITSN1	NM_003024.3(ITSN1):c.4676+246dup	noncoding	Benign
21	33883894	G	GTT	A33883918T	ITSN1	NM_003024.3(ITSN1):c.4676+245_4676+246dup	noncoding	Benign
21	33883894	G	GTTT	A33883918T	ITSN1	NM_003024.3(ITSN1):c.4676+244_4676+246dup	noncoding	Benign
21	33887943	GT	G	T33887954A	ITSN1	NM_003024.3(ITSN1):c.5018-198del	noncoding	Benign
21	33888114	TGGTCCCTC	T	G33888115T	ITSN1	NM_003024.3(ITSN1):c.5018-37_5018-30del	noncoding	Benign
21	34449404	TG	T	G34449407T	KCNE1	NM_000219.6(KCNE1):c.230del:p.Pro77fs	coding	Pathogenic
21	34449523	TG	CA	T34449523C	KCNE1	NM_000219.6(KCNE1):c.111_112inv:p.Ser38Gly	coding	Benign/Likely_benign
21	34459754	G	GC	G34459762C	KCNE1	NM_000219.6(KCNE1):c.-161-997dup	noncoding	Benign
21	34791404	T	TA	T34791410A	RUNX1	NM_001754.5(RUNX1):c.*730dup	noncoding	Benign
21	34791434	C	CA	C34791442A	RUNX1	NM_001754.5(RUNX1):c.*700dup	noncoding	Benign
21	34791467	AC	A	C34791470A	RUNX1	NM_001754.5(RUNX1):c.*667del	noncoding	Benign
21	34792467	TG	T	G34792469C	RUNX1	NM_001754.5(RUNX1):c.1110del:p.Met371fs	coding	Pathogenic
21	34799310	G	GC	A34799311C	RUNX1	NM_001754.5(RUNX1):c.957_958insG:p.Arg320fs	coding	Pathogenic
21	34834437	T	TA	G34834441A	RUNX1	NM_001754.5(RUNX1):c.777dup:p.Asn260Ter	coding	Pathogenic
21	34834488	GGTGGTGTGGGCTGA	G	G34834489C	RUNX1	NM_001754.5(RUNX1):c.713_726del:p.Val238fs	coding	Pathogenic
21	34834550	G	GA	G34834555A	RUNX1	NM_001754.5(RUNX1):c.664dup:p.Ser222fs	coding	Pathogenic
21	34834577	TG	T	G34834578A	RUNX1	NM_001754.5(RUNX1):c.637del:p.Gln213fs	coding	Pathogenic
21	34859485	C	CG	C34859490G	RUNX1	NM_001754.5(RUNX1):c.601dup:p.Arg201fs	coding	Pathogenic
21	34859489	GCCCATCCA	G	C34859491T	RUNX1	NM_001754.5(RUNX1):c.590_597del:p.Val197fs	coding	Pathogenic
21	34859498	CT	C	T34859499G	RUNX1	NM_001754.5(RUNX1):c.588del:p.Val197fs	coding	Pathogenic
21	34859501	TG	T	G34859502A	RUNX1	NM_001754.5(RUNX1):c.585del:p.Thr196fs	coding	Pathogenic
21	34859555	T	TGATG	T34859561A	RUNX1	NM_001754.5(RUNX1):c.528_531dup:p.Thr178fs	coding	Pathogenic
21	34880561	TC	T	C34880563A	RUNX1	NM_001754.5(RUNX1):c.503del:p.Gly168fs	coding	Pathogenic
21	34880575	C	CA	C34880579A	RUNX1	NM_001754.5(RUNX1):c.489dup:p.Val164fs	coding	Pathogenic
21	34880849	ATAACT	A	C34880853G	RUNX1	NM_001754.5(RUNX1):c.352-141_352-137del	noncoding	Benign
21	34886923	G	GC	A34886925C	RUNX1	NM_001754.5(RUNX1):c.270dup:p.Arg91fs	coding	Pathogenic
21	34886946	G	GC	A34886949C	RUNX1	NM_001754.5(RUNX1):c.247dup:p.Ala83fs	coding	Pathogenic
21	34886970	TCGCCGCTCCTCAGCTTGCCGGCCAGGGCAGCGCCGGCGTCCGGGGCGCCCAGC	T	C34886971G	RUNX1	NM_001754.5(RUNX1):c.171_223del:p.Leu58fs	coding	Pathogenic
21	34887028	A	AC	G34887030C	RUNX1	NM_001754.5(RUNX1):c.165dup:p.Leu56fs	coding	Pathogenic
21	34887035	G	GCTCATCTTGC	G34887048C	RUNX1	NM_001754.5(RUNX1):c.149_158dup:p.Ser53fs	coding	Pathogenic
21	34887043	TGCCTGGGCTCA	T	C34887046G	RUNX1	NM_001754.5(RUNX1):c.140_150del:p.Leu47fs	coding	Pathogenic
21	34887242	T	TG	C34887252G	RUNX1	NM_001754.5(RUNX1):c.98-155dup	coding	Benign
21	35048852	GCA	G	A35048854T	RUNX1	NM_001754.5(RUNX1):c.46_47del:p.Cys16fs	coding	Pathogenic
21	35048892	GA	G	A35048894G	RUNX1	NM_001754.5(RUNX1):c.7del:p.Ser3fs	coding	Pathogenic
21	35049115	T	TA	G35049131A	RUNX1	NM_001754.5(RUNX1):c.-60+38dup	noncoding	Benign
21	35049395	AT	A	T35049406C	RUNX1	Single_allele	noncoding	Benign
21	36461655	C	CTGCACGGCCGTGCACCA	A36461658C	CLDN14	NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA:p.Ser14fs	coding	Pathogenic
21	36756253	ACG	A	C36756254G	HLCS	NM_001352514.2(HLCS):c.2450+287_2450+288del	noncoding	Benign
21	36756630	C	CA	G36756631A	HLCS	NM_001352514.2(HLCS):c.2361_2362insT:p.Val788fs	coding	Pathogenic
21	36756731	C	CT	G36756733T	HLCS	NM_001352514.2(HLCS):c.2260dup:p.Ser754fs	coding	Pathogenic/Likely_pathogenic
21	36764950	CAAG	C	G36764953T	HLCS	NM_001352514.2(HLCS):c.2121+59_2121+61del	noncoding	Benign
21	36896882	TG	T	G36896887T	HLCS	NM_001352514.2(HLCS):c.1869del:p.Thr624fs	coding	Pathogenic
21	36897117	AG	A	G36897119A	HLCS	NM_001352514.2(HLCS):c.1634del:p.Pro545fs	coding	Pathogenic
21	36897123	CCT	C	C36897124G	HLCS	NM_001352514.2(HLCS):c.1627_1628del:p.Arg543fs	coding	Pathogenic
21	36930327	AG	A	G36930328A	HLCS	NM_001352514.2(HLCS):c.1543del:p.Ile514_Leu515insTer	coding	Pathogenic
21	36936467	T	TC	G36936473C	HLCS	NM_001352514.2(HLCS):c.1418dup:p.Glu474fs	coding	Pathogenic/Likely_pathogenic
21	36937022	AC	A	C36937023T	HLCS	NM_001352514.2(HLCS):c.863del:p.Ser288fs	coding	Pathogenic
21	36937158	AC	A	C36937159G	HLCS	NM_001352514.2(HLCS):c.727del:p.Val243fs	coding	Pathogenic
21	36937218	CTTTG	C	T36937223G	HLCS	NM_001352514.2(HLCS):c.664_667del:p.Gln222fs	coding	Pathogenic/Likely_pathogenic
21	36948291	GA	G	A36948309G	HLCS	NM_001352514.2(HLCS):c.331-9298del	noncoding	Benign
21	36961956	G	GAAAAAAA	G36961972A	HLCS	NM_001352514.2(HLCS):c.330+65_330+71dup	noncoding	Benign
21	36961956	G	GA	G36961972A	HLCS	NM_001352514.2(HLCS):c.330+65dup	noncoding	Benign
21	36980968	A	ATCCG	C36980973T	HLCS	NM_000411.8(HLCS):c.-393+9186_-393+9189dup	noncoding	Benign
21	37420150	T	TTAAG	T37420156A	DYRK1A	NM_001347721.2(DYRK1A):c.-76-147_-76-144dup	noncoding	Benign
21	37420484	TGGG	T	G37420488A	DYRK1A	NM_001347721.2(DYRK1A):c.10+104_10+106del	noncoding	Benign
21	37473019	TAAG	T	A37473023T	DYRK1A	NM_001347721.2(DYRK1A):c.207+143_207+145del	noncoding	Benign
21	37478208	A	AG	C37478211G	DYRK1A	NM_001347721.2(DYRK1A):c.210dup:p.Arg71fs	coding	Pathogenic
21	37478249	CCT	C	C37478250G	DYRK1A	NM_001347721.2(DYRK1A):c.250_251del:p.Leu84fs	coding	Pathogenic
21	37478259	CT	C	T37478262C	DYRK1A	NM_001347721.2(DYRK1A):c.262del:p.Ser88fs	coding	Pathogenic
21	37478266	T	TTG	A37478269T	DYRK1A	NM_001347721.2(DYRK1A):c.267_268dup:p.Asp90fs	coding	Pathogenic
21	37478292	A	ATT	A37478295T	DYRK1A	NM_001347721.2(DYRK1A):c.293_294dup:p.Asn99fs	coding	Pathogenic
21	37480768	AAAAGTGG	A	A37480770T	DYRK1A	NM_001347721.2(DYRK1A):c.433_439del:p.Lys145fs	coding	Pathogenic
21	37480786	AC	A	C37480787G	DYRK1A	NM_001347721.2(DYRK1A):c.450del:p.Arg149_Tyr150insTer	coding	Pathogenic
21	37486471	T	TA	G37486475A	DYRK1A	NM_001347721.2(DYRK1A):c.497dup:p.Ala167fs	coding	Pathogenic
21	37486615	G	GT	A37486617T	DYRK1A	NM_001347721.2(DYRK1A):c.637+2dup	coding	Pathogenic
21	37490237	T	TA	C37490239A	DYRK1A	NM_001347721.2(DYRK1A):c.701dup:p.Tyr234Ter	coding	Pathogenic
21	37490283	CTT	C	T37490285G	DYRK1A	NM_001347721.2(DYRK1A):c.748_749del:p.Leu250fs	coding	Pathogenic
21	37493066	TG	T	G37493069A	DYRK1A	NM_001347721.2(DYRK1A):c.977del:p.Gly326fs	coding	Pathogenic
21	37493077	T	TA	T37493079A	DYRK1A	NM_001347721.2(DYRK1A):c.986dup:p.Tyr329Ter	coding	Pathogenic
21	37493097	GT	G	T37493098G	DYRK1A	NM_001347721.2(DYRK1A):c.1006del:p.Trp336fs	coding	Pathogenic
21	37496156	TCCACCTGCTCATATTCTTGA	T	C37496160A	DYRK1A	NM_001347721.2(DYRK1A):c.1114_1133del:p.Pro372fs	coding	Pathogenic
21	37496156	TC	T	C37496158A	DYRK1A	NM_001347721.2(DYRK1A):c.1112del:p.Pro371fs	coding	Pathogenic
21	37496201	C	CT	G37496205T	DYRK1A	NM_001347721.2(DYRK1A):c.1158dup:p.Glu387Ter	coding	Pathogenic
21	37496233	TAAAG	T	A37496236G	DYRK1A	NM_001347721.2(DYRK1A):c.1190_1193del:p.Lys397fs	coding	Pathogenic
21	37505312	TC	T	C37505313A	DYRK1A	NM_001347721.2(DYRK1A):c.1243del:p.His415fs	coding	Pathogenic
21	37511992	CAAGA	C	G37511995C	DYRK1A	NM_001347721.2(DYRK1A):c.1729_1732del:p.Glu577fs	coding	Pathogenic
21	37512008	A	AT	G37512010T	DYRK1A	NM_001347721.2(DYRK1A):c.1743dup:p.Val582fs	coding	Pathogenic
21	37512215	CT	C	T37512217C	DYRK1A	NM_001347721.2(DYRK1A):c.1951del:p.Ser651fs	coding	Pathogenic
21	37512663	A	AT	A37512674T	DYRK1A	NM_001347721.2(DYRK1A):c.*142dup	noncoding	Benign
21	41746667	G	GT	A41746669T	RIPK4	NM_020639.3(RIPK4):c.777dup:p.Arg260fs	coding	Pathogenic
21	41766585	CGAGGAGCCCCA	C	C41766605G	RIPK4	NM_020639.3(RIPK4):c.182+264_182+274del	noncoding	Benign
21	42376813	CG	C	G42376815A	TMPRSS3	NM_001256317.3(TMPRSS3):c.1049-131del	noncoding	Benign
21	42380131	GC	G	C42380137A	TMPRSS3	NM_001256317.3(TMPRSS3):c.1033del:p.Ala345fs	coding	Pathogenic
21	42383065	CA	C	A42383066G	TMPRSS3	NM_001256317.3(TMPRSS3):c.749del:p.Leu250fs	coding	Pathogenic
21	42384156	CA	C	A42384170C	TMPRSS3	NM_001256317.3(TMPRSS3):c.573-144del	noncoding	Benign
21	42384156	C	CAA	C42384171A	TMPRSS3	NM_001256317.3(TMPRSS3):c.573-157_573-156dup	noncoding	Benign
21	42384156	C	CA	C42384171A	TMPRSS3	NM_001256317.3(TMPRSS3):c.573-157dup	noncoding	Benign
21	42388767	AC	A	C42388773A	TMPRSS3	NM_001256317.3(TMPRSS3):c.322+161del	noncoding	Benign
21	42389984	G	GA	C42389991A	TMPRSS3	NM_001256317.3(TMPRSS3):c.147dup:p.Pro50fs	coding	Pathogenic
21	42390034	GC	G	C42390035A	TMPRSS3	NM_001256317.3(TMPRSS3):c.97del:p.Ala33fs	coding	Pathogenic
21	42477271	AG	A	G42477272C	RSPH1	NM_080860.4(RSPH1):c.727+19del	noncoding	Benign/Likely_benign
21	42477362	AG	A	G42477365C	RSPH1	NM_080860.4(RSPH1):c.655del:p.Leu219fs	coding	Pathogenic
21	42859558	C	CCAGGGGCCAGCGATCCA	G42859586C	WDR4	NM_018669.6(WDR4):c.627+87_627+103dup	noncoding	Benign
21	42859577	A	AGGGGCCAGCGATCCACC	G42859586C	WDR4	NM_018669.6(WDR4):c.627+84_627+85insCTGGCCCCGGTGGATCG	noncoding	Benign
21	42862227	AC	A	C42862228G	WDR4	NM_018669.6(WDR4):c.566+54del	noncoding	Benign
21	42873397	CAT	C	A42873398G	WDR4	NM_018669.6(WDR4):c.296+152_296+153del	noncoding	Benign
21	43063028	CAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGGGATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCGCCTGGACATGCCTCGATATTCTATTATGGGAGTGGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGG	C	C43063031G	CBS	NM_000071.3(CBS):c.829-249_878del	coding	Pathogenic
21	43063062	G	GGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	A43063074G	CBS	NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC:p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer	coding	Benign
21	43063062	G	GGATCCACTCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	C43063070T	CBS	NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGAGTGGATC:p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer	coding	Pathogenic
21	43063074	A	ATGATCTGCAGAGGGCACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	G43063090A	CBS	NC_000021.8:g.44483184_44483185insTGATCTGCAGAGGGCACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	coding	Pathogenic
21	43063074	A	ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCTCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	G43063108C	CBS	NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGAGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA	coding	Benign
21	43063074	A	ATGATCTGCAGAGGGCGTGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	C43063091T	CBS	NC_000021.8:g.44483184_44483185insTGATCTGCAGAGGGCGTGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	coding	Benign
21	43063074	A	ATGATCTGCAGAGGGTGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	C43063089T	CBS	NC_000021.8:g.44483184_44483185insTGATCTGCAGAGGGTGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	coding	Benign
21	43065236	TG	T	G43065237T	CBS	NM_000071.3(CBS):c.702del:p.Asp234fs	coding	Pathogenic
21	43065665	CT	C	T43065666C	CBS	NM_000071.3(CBS):c.481del:p.Arg161fs	coding	Pathogenic
21	43065669	CTGCCGCAGCCAGGGCCAGCCCG	C	T43065670A	CBS	NM_000071.3(CBS):c.456_477del:p.Ile152fs	coding	Pathogenic
21	43066249	T	TC	G43066253C	CBS	NM_000071.3(CBS):c.444dup:p.Asn149fs	coding	Pathogenic
21	43066266	A	AT	A43066268T	CBS	NM_000071.3(CBS):c.427dup:p.Ile143fs	coding	Pathogenic
21	43066291	TC	T	C43066294G	CBS	NM_000071.3(CBS):c.402del:p.Thr135fs	coding	Pathogenic/Likely_pathogenic
21	43068568	TC	T	C43068572G	CBS	NM_000071.3(CBS):c.256del:p.Asp86fs	coding	Pathogenic
21	43068645	G	GAA	T43068660A	CBS	NM_000071.3(CBS):c.210-44_210-43dup	noncoding	Benign
21	43068645	G	GA	T43068660A	CBS	NM_000071.3(CBS):c.210-44dup	noncoding	Benign
21	43071881	AG	A	G43071886T	CBS	NM_000071.3(CBS):c.209+103del	noncoding	Benign
21	43072009	T	TC	G43072011C	CBS	NM_000071.3(CBS):c.184dup:p.Glu62fs	coding	Pathogenic
21	43072095	TG	T	G43072099A	CBS	NM_000071.3(CBS):c.98del:p.Pro33fs	coding	Pathogenic
21	43417527	CG	C	G43417532C	SIK1	NM_173354.5(SIK1):c.1976+15del	noncoding	Benign
21	43418545	TG	T	G43418551A	SIK1	NM_173354.5(SIK1):c.1463-5del	noncoding	Benign
21	43421384	CAGAT	C	A43421385G	SIK1	NM_173354.5(SIK1):c.500-21_500-18del	noncoding	Benign
21	43718988	T	TGGCGCGGC	C43718997G	PDXK	Single_allele	noncoding	Benign
21	43734293	CAG	C	A43734294G	PDXK	NM_003681.5(PDXK):c.142+171_142+172del	noncoding	Benign
21	43774704	AC	A	C43774705G	CSTB	NM_000100.4(CSTB):c.121del:p.Val41fs	coding	Pathogenic
21	43776442	CGCGCGGGGCGGG	C	C43776468A	CSTB	Single_allele	noncoding	Benign
21	44102821	CG	C	G44102823T	TRAPPC10	NM_003274.5(TRAPPC10):c.3392del:p.Gly1131fs	coding	Pathogenic
21	44286017	ACG	A	C44286020G	AIRE	NM_000383.4(AIRE):c.14_15del:p.Ala5fs	coding	Pathogenic
21	44286040	AG	A	G44286042C	AIRE	NM_000383.4(AIRE):c.36del:p.Arg12fs	coding	Pathogenic
21	44286616	C	CTGGCT	G44286622T	AIRE	NM_000383.4(AIRE):c.193_197dup:p.Leu67fs	coding	Pathogenic
21	44286994	GC	G	C44286998G	AIRE	NM_000383.4(AIRE):c.328del:p.Arg110fs	coding	Pathogenic/Likely_pathogenic
21	44287012	GC	G	C44287017G	AIRE	NM_000383.4(AIRE):c.347del:p.Pro116fs	coding	Pathogenic
21	44287536	GC	G	C44287542A	AIRE	NM_000383.4(AIRE):c.489del:p.Lys164fs	coding	Pathogenic
21	44287552	G	GAGAGCAGCGC	A44287571G	AIRE	NM_000383.4(AIRE):c.508_517dup:p.Gln173fs	coding	Pathogenic
21	44287554	GAGCAGCGCAGAGC	G	A44287563C	AIRE	NM_000383.4(AIRE):c.510_522del:p.Glu171fs	coding	Pathogenic
21	44287632	CA	C	A44287633G	AIRE	NM_000383.4(AIRE):c.538+42del	noncoding	Benign
21	44288402	T	TC	G44288406C	AIRE	NM_000383.4(AIRE):c.599dup:p.Ala202fs	coding	Pathogenic
21	44289750	GC	G	C44289751A	AIRE	NM_000383.4(AIRE):c.747del:p.Ser249fs	coding	Pathogenic
21	44290052	AC	A	C44290057A	AIRE	NM_000383.4(AIRE):c.868del:p.Gln290fs	coding	Pathogenic/Likely_pathogenic
21	44291180	GCCTGTCC	G	G44291184C	AIRE	NM_000383.4(AIRE):c.969_975del:p.Ser324fs	coding	Pathogenic
21	44292389	CG	C	G44292390T	AIRE	NM_000383.4(AIRE):c.1084del:p.Val362fs	coding	Pathogenic/Likely_pathogenic
21	44293039	CTG	C	T44293040G	AIRE	NM_000383.4(AIRE):c.1143_1144del:p.Glu383fs	coding	Pathogenic
21	44293088	G	GCCGGC	T44293094C	AIRE	NM_000383.4(AIRE):c.1192_1196dup:p.Pro400fs	coding	Pathogenic
21	44293107	GC	G	C44293111G	AIRE	NM_000383.4(AIRE):c.1214del:p.Pro405fs	coding	Pathogenic
21	44293126	A	ACTCCTCGGCCCTGCACCCCCTT	A44293148T	AIRE	NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT:p.Cys419fs	coding	Pathogenic
21	44293128	TC	T	C44293130T	AIRE	NM_000383.4(AIRE):c.1233del:p.Ser412fs	coding	Pathogenic
21	44293149	CTG	C	T44293156G	AIRE	NM_000383.4(AIRE):c.1259_1260del:p.Val420fs	coding	Pathogenic
21	44294473	CCCCG	C	C44294480T	AIRE	NM_000383.4(AIRE):c.1480_1483del:p.Arg494fs	coding	Pathogenic/Likely_pathogenic
21	44296416	AG	A	G44296419A	AIRE	NM_000383.4(AIRE):c.1540del:p.Asp514fs	coding	Pathogenic
21	44296656	G	GC	G44296665C	AIRE	NM_000383.4(AIRE):c.1566+219dup	noncoding	Benign
21	44331730	CCT	C	C44331731G	CFAP410	NM_004928.3(CFAP410):c.545+111_545+112del	noncoding	Benign
21	44331859	T	TC	G44331860C	CFAP410	NM_004928.3(CFAP410):c.528_529insG:p.Ser177fs	coding	Pathogenic
21	44331894	CT	C	T44331895G	CFAP410	NM_004928.3(CFAP410):c.493del:p.Ser165fs	coding	Pathogenic/Likely_pathogenic
21	44331943	CCT	C	C44331952G	CFAP410	NM_004928.3(CFAP410):c.443_444del:p.Glu148fs	coding	Pathogenic/Likely_pathogenic
21	44331943	CCTCT	C	C44331950G	CFAP410	NM_004928.3(CFAP410):c.441_444del:p.Glu148fs	coding	Pathogenic
21	44331991	GGGACAGCTCCTCCTCC	G	G44331993T	CFAP410	NM_004928.3(CFAP410):c.381_396del:p.Glu128fs	coding	Pathogenic
21	44332026	AAGAC	A	C44332030A	CFAP410	NM_004928.3(CFAP410):c.374-16_374-13del	noncoding	Benign
21	44333209	TCA	T	A44333211T	CFAP410	NM_004928.3(CFAP410):c.195_196del:p.Ser65fs	coding	Pathogenic
21	44335868	CAGCCACAGAGAACTGTCGA	C	A44335875G	CFAP410	NM_004928.3(CFAP410):c.97-83_97-65del	noncoding	Benign
21	44395690	AG	A	G44395693C	TRPM2	NM_003307.4(TRPM2):c.1932+142del	noncoding	Benign
21	44395690	AGGGCTGTGG	A	G44395691A	TRPM2	NM_003307.4(TRPM2):c.1932+140_1932+148del	noncoding	Benign
21	44395700	AGGATGTGGAGGGGTGTGGAGGGCTGTGGAGGGATGTGGAG	A	G44395702C	TRPM2	NM_003307.4(TRPM2):c.1932+151_1932+190del	noncoding	Benign
21	44521955	GC	G	C44521957G	TSPEAR	NM_144991.3(TSPEAR):c.1493del:p.Gly498fs	coding	Pathogenic
21	44530182	G	GT	A44530189T	TSPEAR	NM_144991.3(TSPEAR):c.634-234dup	noncoding	Benign
21	44711463	G	GGCCGGGGGCC	A44711477G	TSPEAR	NM_144991.3(TSPEAR):c.42_51dup:p.His18fs	coding	Pathogenic
21	44888736	CT	C	T44888737G	ITGB2	NM_000211.5(ITGB2):c.2036del:p.Gln679fs	coding	Pathogenic
21	44889114	CAG	C	A44889115G	ITGB2	NM_000211.5(ITGB2):c.1877+160_1877+161del	noncoding	Benign
21	44889393	CG	C	G44889394C	ITGB2	NM_000211.5(ITGB2):c.1759del:p.Arg587fs	coding	Pathogenic
21	44890096	GAC	G	C44890100G	ITGB2	NM_000211.5(ITGB2):c.1537_1538del:p.Val513fs	coding	Pathogenic
21	44891853	G	GC	G44891855C	ITGB2	NM_000211.5(ITGB2):c.1367dup:p.Ser457fs	coding	Pathogenic
21	44894996	AC	A	C44894998A	ITGB2	NM_000211.5(ITGB2):c.1057del:p.Val353fs	coding	Pathogenic
21	44900047	AG	A	G44900053C	ITGB2	NM_000211.5(ITGB2):c.897+272del	noncoding	Benign
21	44900490	T	TG	C44900497G	ITGB2	NM_000211.5(ITGB2):c.742-21dup	noncoding	Benign
21	44900637	CACGCCCAGGAGGAGACA	C	C44900641G	ITGB2	NM_000211.5(ITGB2):c.742-179_742-163del	noncoding	Benign
21	44901475	AG	A	G44901479C	ITGB2	NM_000211.5(ITGB2):c.741+16del	noncoding	Benign
21	44903411	GCCACCTAGCTTCTTGACATTCCTGAGGTCATCAAGCATGGAGTAGGAGAGGTCCATCAGATAGTACAGGTCGATGGGGTAGCCCTTGGCCCGCCGGAAGGTCACGTTGAACGCTGCTGCCTGGCCTGCCGGTGGGGACAGAACAAAAGGAGCCACACCTC	G	C44903412A	ITGB2	NM_000211.5(ITGB2):c.329-36_452del	coding	Pathogenic
21	44906936	CTT	C	T44906940G	ITGB2	NM_000211.5(ITGB2):c.305_306del:p.Lys102fs	coding	Pathogenic
21	44907110	TC	T	C44907111A	ITGB2	NM_000211.5(ITGB2):c.148-16del	noncoding	Benign
21	45405086	CCCCGCCCCCTGCCCGGCCCCTGCCCGGCCCCTG	C	C45405105T	COL18A1	Single_allele	noncoding	Benign
21	45405091	CCCCCTGCCCGGCCCCTGCCCGG	C	G45405102C	COL18A1	Single_allele	noncoding	Benign
21	45405100	CG	C	G45405102C	COL18A1	Single_allele	noncoding	Benign
21	45405103	CCCCTGCCCGG	C	T45405107C	COL18A1	Single_allele	noncoding	Benign
21	45405236	GC	G	C45405238G	COL18A1	NM_001379500.1(COL18A1):c.8del:p.Pro3fs	coding	Pathogenic
21	45405249	CG	C	G45405253C	COL18A1	NM_001379500.1(COL18A1):c.11+12del	noncoding	Benign
21	45405285	C	CGGCTGCGG	G45405296C	COL18A1	NM_001379500.1(COL18A1):c.11+47_11+54dup	noncoding	Benign
21	45405285	C	CGGCTGCGGGGGCTGCGG	T45405297C	COL18A1	NM_001379500.1(COL18A1):c.11+55_11+56insCTGCGGGGCTGCGGGGG	noncoding	Benign
21	45405298	C	CCT	G45405299C	COL18A1	NM_001379500.1(COL18A1):c.11+57_11+58insCT	noncoding	Benign
21	45405319	C	CTGGGT	C45405320T	COL18A1	NM_001379500.1(COL18A1):c.12-60_12-59insTGGGT	noncoding	Benign
21	45405320	C	CCTGCGG	G45405321C	COL18A1	NM_001379500.1(COL18A1):c.12-59_12-58insCTGCGG	noncoding	Benign
21	45405452	CGCGCG	C	G45405455C	COL18A1	NM_001379500.1(COL18A1):c.88_92del:p.Ala30fs	coding	Pathogenic
21	45468401	TC	T	C45468403G	COL18A1	NM_001379500.1(COL18A1):c.268del:p.Arg90fs	coding	Pathogenic
21	45468501	CG	C	G45468502T	COL18A1	NM_001379500.1(COL18A1):c.367del:p.Gly122_Val123insTer	coding	Pathogenic
21	45468528	GC	G	C45468529A	COL18A1	NM_001379500.1(COL18A1):c.394del:p.His132fs	coding	Pathogenic
21	45468645	AG	A	G45468647T	COL18A1	NM_001379500.1(COL18A1):c.512del:p.Gly171fs	coding	Pathogenic
21	45468723	GC	G	C45468724T	COL18A1	NM_001379500.1(COL18A1):c.589del:p.Leu197fs	coding	Pathogenic
21	45468784	CAG	C	A45468785G	COL18A1	NM_001379500.1(COL18A1):c.650_651del:p.Gln217fs	coding	Pathogenic
21	45468825	CTGGGA	C	A45468830G	COL18A1	NM_001379500.1(COL18A1):c.651+44_651+48del	noncoding	Benign
21	45475607	CAT	C	A45475608G	COL18A1	NM_001379500.1(COL18A1):c.798+73_798+74del	noncoding	Benign
21	45476138	TGGGTCC	T	G45476139T	COL18A1	NM_001379500.1(COL18A1):c.799-212_799-207del	noncoding	Benign
21	45476687	CAT	C	A45476688G	COL18A1	NM_001379500.1(COL18A1):c.928+208_928+209del	noncoding	Benign
21	45477808	GC	G	C45477814A	COL18A1	NM_001379500.1(COL18A1):c.1070del:p.Pro357fs	coding	Pathogenic
21	45477930	G	GGGAGGGACGGCACC	C45477945G	COL18A1	NM_001379500.1(COL18A1):c.1187_1200dup:p.Pro401fs	coding	Pathogenic
21	45477979	T	TC	G45477986C	COL18A1	NM_001379500.1(COL18A1):c.1221+20dup	noncoding	Benign/Likely_benign
21	45479923	TTCCCCGGGAC	T	C45479927A	COL18A1	NM_001379500.1(COL18A1):c.1274_1283del:p.Pro425fs	coding	Pathogenic
21	45480729	AC	A	C45480735G	COL18A1	NM_001379500.1(COL18A1):c.1488del:p.Gly497fs	coding	Pathogenic
21	45480834	TC	T	C45480840G	COL18A1	NM_001379500.1(COL18A1):c.1593del:p.Pro534fs	coding	Pathogenic/Likely_pathogenic
21	45486943	G	GC	T45486950C	COL18A1	NM_001379500.1(COL18A1):c.1790dup:p.Gly598fs	coding	Pathogenic
21	45488455	GAT	G	A45488458G	COL18A1	NM_001379500.1(COL18A1):c.1923+14_1923+15del	noncoding	Benign
21	45489483	TAGG	T	A45489484G	COL18A1	NM_001379500.1(COL18A1):c.1924-2_1924del	noncoding	Pathogenic
21	45490437	C	CGTGGGT	C45490438G	COL18A1	NM_001379500.1(COL18A1):c.2031+91_2031+92insGTGGGT	noncoding	Benign
21	45490439	C	CCTGGGCCTCCATGTGCCCTCGT	G45490440C	COL18A1	NM_001379500.1(COL18A1):c.2031+93_2031+94insCTGGGCCTCCATGTGCCCTCGT	noncoding	Benign
21	45490490	C	CCA	T45490492A	COL18A1	NM_001379500.1(COL18A1):c.2031+145_2031+146insAC	noncoding	Benign
21	45490518	CCA	C	A45490520T	COL18A1	NM_001379500.1(COL18A1):c.2031+174_2031+175del	noncoding	Benign
21	45490660	G	GGGTCTCT	A45490662G	COL18A1	NM_001379500.1(COL18A1):c.2032-175_2032-174insGTCTCTG	noncoding	Benign
21	45490834	AG	A	G45490838C	COL18A1	NC_000021.8:g.46910749del	noncoding	Pathogenic
21	45491256	C	CG	C45491260G	COL18A1	NM_001379500.1(COL18A1):c.2102dup:p.Leu702fs	coding	Pathogenic
21	45491266	TG	T	G45491268C	COL18A1	NM_001379500.1(COL18A1):c.2111del:p.Gly704fs	coding	Pathogenic
21	45491268	GC	G	C45491275G	COL18A1	NM_001379500.1(COL18A1):c.2118del:p.Gly707fs	coding	Pathogenic
21	45491393	C	CA	C45491395A	COL18A1	NM_001379500.1(COL18A1):c.2157+80dup	noncoding	Benign
21	45491464	T	TGTAGAG	C45491466T	COL18A1	NM_001379500.1(COL18A1):c.2157+151_2157+152insTAGAGG	noncoding	Benign
21	45493499	AGG	A	G45493501T	COL18A1	NM_030582.3(COL18A1):c.2818_2819del	noncoding	Pathogenic
21	45494523	GTCT	G	C45494528G	COL18A1	NM_001379500.1(COL18A1):c.2353-17_2353-15del	noncoding	Benign
21	45495403	GGA	G	G45495406T	COL18A1	NM_001379500.1(COL18A1):c.2482_2483del:p.Asp828fs	coding	Pathogenic
21	45495607	C	CACAT	G45495608A	COL18A1	NM_001379500.1(COL18A1):c.2508+175_2508+176insACAT	noncoding	Benign
21	45496510	GC	G	C45496516A	COL18A1	NM_001379500.1(COL18A1):c.2525del:p.Pro842fs	coding	Pathogenic
21	45496548	A	AC	T45496550C	COL18A1	NM_001379500.1(COL18A1):c.2558dup:p.Pro854fs	coding	Pathogenic
21	45497266	AG	A	G45497267C	COL18A1	NM_001379500.1(COL18A1):c.2620+175del	noncoding	Benign
21	45497644	G	GT	C45497645T	COL18A1	NM_001379500.1(COL18A1):c.2666_2667insT:p.Gly892fs	coding	Pathogenic
21	45497647	C	CT	C45497648T	COL18A1	NM_001379500.1(COL18A1):c.2669_2670insT:p.Gly892fs	coding	Pathogenic
21	45503996	GTCTC	G	C45504002T	COL18A1	NM_001379500.1(COL18A1):c.2684-14TC[2]	noncoding	Benign/Likely_benign
21	45504458	A	AG	A45504465G	COL18A1	NM_001379500.1(COL18A1):c.2776dup:p.Glu926fs	coding	Pathogenic
21	45504466	G	GC	G45504470C	COL18A1	NM_001379500.1(COL18A1):c.2781dup:p.Gly928fs	coding	Pathogenic
21	45504469	C	CG	C45504475G	COL18A1	NM_001379500.1(COL18A1):c.2786dup:p.Gly930fs	coding	Pathogenic
21	45504499	GCCCGGCCCC	G	C45504511A	COL18A1	NM_001379500.1(COL18A1):c.2814CGGCCCCCC[1]:p.938PGP[3]	coding	Benign
21	45504502	CGGCCCCCCCGGCCCCCCA	C	C45504511A	COL18A1	NM_001379500.1(COL18A1):c.2823_2840del:p.938PGP[2]	coding	Benign
21	45504505	CCCCCCCGGCCCCCCAGG	C	G45504512A	COL18A1	NM_001379500.1(COL18A1):c.2824_2840del:p.Gly942fs	coding	Pathogenic
21	45504505	CCCCCCCGG	C	G45504512A	COL18A1	NM_001379500.1(COL18A1):c.2824_2831del:p.Gly942fs	coding	Pathogenic
21	45504511	CGGCCCCCCAGGCCCCCCA	C	C45504517A	COL18A1	NM_001379500.1(COL18A1):c.2829_2846del:p.938PGP[2]	coding	Benign/Likely_benign
21	45504514	CCCCCCAGG	C	A45504520C	COL18A1	NM_001379500.1(COL18A1):c.2832_2839del:p.Gly945fs	noncoding	Pathogenic
21	45504520	AGGCCCCCCAGGCCCACGT	A	C45504524T	COL18A1	NM_030582.4(COL18A1):c.3367_3384del:p.Pro1123_Gly1128del	noncoding	Benign
21	45504919	A	AGGTCTCT	C45504928G	COL18A1	NM_001379500.1(COL18A1):c.2869-213_2869-207dup	noncoding	Benign
21	45505187	ACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCC	A	C45505192A	COL18A1	NM_001379500.1(COL18A1):c.2927_2978del:p.Pro976fs	coding	Pathogenic
21	45505195	G	GC	A45505197C	COL18A1	NM_001379500.1(COL18A1):c.2931dup:p.Ile978fs	coding	Pathogenic
21	45505213	GCCAGGGCCCTCCCGGCCCCCCAGGCCCC	G	T45505223C	COL18A1	NM_001379500.1(COL18A1):c.2958_2985del:p.Pro987fs	coding	Pathogenic
21	45505228	G	GCCCCCCAGGC	A45505244C	COL18A1	NM_001379500.1(COL18A1):c.2969_2978dup:p.Gly994fs	coding	Pathogenic
21	45505235	A	AGGCCCCCCAG	T45505253C	COL18A1	NM_001379500.1(COL18A1):c.2978_2987dup:p.Ser997fs	coding	Pathogenic
21	45505238	CCCCCCAGGG	C	A45505244T	COL18A1	NM_001379500.1(COL18A1):c.2979_2987del:p.985GPP[3]	coding	Benign
21	45505243	CA	C	A45505244G	COL18A1	NM_001379500.1(COL18A1):c.2979del:p.Pro996fs	coding	Pathogenic
21	45505243	C	CAGGGCCCCCT	T45505254A	COL18A1	NM_001379500.1(COL18A1):c.2979_2988dup:p.Ser997fs	coding	Pathogenic
21	45505371	CGGCCCTCCGGGCCCCCCTG	C	T45505377C	COL18A1	NM_001379500.1(COL18A1):c.3033_3051del:p.Pro1012fs	coding	Pathogenic
21	45505379	CGGGCCCCCCTGGGCCCCCT	C	C45505388T	COL18A1	NM_001379500.1(COL18A1):c.3044_3062del:p.Pro1015fs	coding	Pathogenic
21	45505383	CCCCCCTGGG	C	G45505401A	COL18A1	NM_001379500.1(COL18A1):c.3048GCCCCCTGG[1]:p.1011PPG[3]	coding	Benign
21	45505388	CT	C	T45505389G	COL18A1	NM_001379500.1(COL18A1):c.3045del:p.Pro1018fs	coding	Pathogenic
21	45505388	CTGGGCCCCCTGGGCCCCCTGGAACCA	C	C45505394G	COL18A1	NM_001379500.1(COL18A1):c.3050_3075del:p.Pro1017fs	coding	Pathogenic
21	45505389	T	TG	C45505393G	COL18A1	NM_001379500.1(COL18A1):c.3048dup:p.Pro1017fs	coding	Pathogenic
21	45505392	G	GC	T45505398C	COL18A1	NM_001379500.1(COL18A1):c.3053dup:p.Gly1019fs	coding	Pathogenic
21	45505438	GTC	G	C45505440G	COL18A1	NM_001379500.1(COL18A1):c.3087+9_3087+10del	noncoding	Benign/Likely_benign
21	45507456	TGGGAGGGCCAGGTGCTGGGGCGGGAGAGTCGGGTGCTGGGCA	T	C45507465A	COL18A1	NM_001379500.1(COL18A1):c.3217-96_3217-55del	noncoding	Benign
21	45507603	C	CT	C45507610T	COL18A1	NM_001379500.1(COL18A1):c.3249+16dup	noncoding	Benign
21	45507603	CT	C	T45507609C	COL18A1	NM_001379500.1(COL18A1):c.3249+16del	noncoding	Benign
21	45509379	GC	G	C45509385G	COL18A1	NM_001379500.1(COL18A1):c.3279del:p.Val1094fs	coding	Pathogenic
21	45509408	A	AC	T45509413C	COL18A1	NM_001379500.1(COL18A1):c.3306dup:p.Tyr1103fs	coding	Pathogenic
21	45509608	G	GC	A45509616C	COL18A1	NM_001379500.1(COL18A1):c.3495+14dup	noncoding	Benign
21	45510113	TCCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGG	T	C45510117T	COL18A1	NM_001379500.1(COL18A1):c.3549_3586del:p.Asp1186fs	coding	Pathogenic
21	45510155	TGG	T	G45510158C	COL18A1;SLC19A1	NM_001379500.1(COL18A1):c.3590_3591del:p.Gly1197fs	coding	Pathogenic
21	45510220	CGCCGTGCCGACCGCGCA	C	G45510229C	COL18A1	NM_001379500.1(COL18A1):c.3661_3677del:p.Asp1221fs	coding	Pathogenic
21	45510951	AACACCCCACATACACCCCCAAACACCCCCCACACCC	A	A45510952C	COL18A1	NM_001379500.1(COL18A1):c.3694-159_3694-124del	noncoding	Benign
21	45531701	TGAA	T	A45531707G	SLC19A1	NM_194255.4(SLC19A1):c.631TTC[1]:p.Phe212del	coding	Pathogenic
21	45981898	GAC	G	C45981900G	COL6A1	NM_001848.3(COL6A1):c.50_51del:p.Thr17fs	coding	Pathogenic
21	45982165	G	GCCGGA	C45982174G	COL6A1	NM_001848.3(COL6A1):c.97+222_97+226dup	noncoding	Benign
21	45984366	GGC	G	G45984367C	COL6A1	NM_001848.3(COL6A1):c.326_327del:p.Gly109fs	coding	Pathogenic
21	45984681	G	GAGAGAC	G45984699C	COL6A1	NM_001848.3(COL6A1):c.428+213AGAGAC[3]	noncoding	Benign
21	45986696	G	GCC	G45986705C	COL6A1	NM_001848.3(COL6A1):c.588+18_588+19dup	noncoding	Benign
21	45987485	CT	C	T45987488C	COL6A1	NM_001848.3(COL6A1):c.739-11del	noncoding	Benign/Likely_benign
21	45989998	AGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCG	A	G45990060A	COL6A1	NM_001848.3(COL6A1):c.931-198_931-165del	noncoding	Benign
21	45990375	CAG	C	A45990376G	COL6A1	NM_001848.3(COL6A1):c.958-2_958-1del	noncoding	Pathogenic
21	45990464	GAATGGGGC	G	A45990465G	COL6A1	NM_001848.3(COL6A1):c.1002+43_1002+50del	noncoding	Benign
21	45990509	AC	A	C45990512G	COL6A1	NM_001848.3(COL6A1):c.1002+90del	noncoding	Benign
21	45990754	GT	G	T45990758C	COL6A1	NM_001848.3(COL6A1):c.1003-15del	noncoding	Benign/Likely_benign
21	45991992	TC	T	C45991997G	COL6A1	NM_001848.3(COL6A1):c.1120-13del	noncoding	Benign
21	45997233	CCAGGCCCTTCGTG	C	G45997246C	COL6A1	NM_001848.3(COL6A1):c.1399-175_1399-163del	noncoding	Benign
21	45999211	GC	G	C45999216A	COL6A1	NM_001848.3(COL6A1):c.1738del:p.Gln580fs	coding	Pathogenic
21	45999792	C	CG	T45999800G	COL6A1	NM_001848.3(COL6A1):c.1776+107dup	noncoding	Benign
21	46000598	CCGGGGAGG	C	A46000612C	COL6A1	NM_001848.3(COL6A1):c.1814-147_1814-140del	noncoding	Benign
21	46000641	AGGCCGGGGAAGGAGGGC	A	A46000651G	COL6A1	NM_001848.3(COL6A1):c.1814-108_1814-92del	noncoding	Benign
21	46000651	AGGAGGGCGGCCGGGGAG	A	G46000653C	COL6A1	NM_001848.3(COL6A1):c.1814-106_1814-90del	noncoding	Benign
21	46001295	GCT	G	T46001297A	COL6A1	NM_001848.3(COL6A1):c.1867_1868del:p.Ser623fs	coding	Pathogenic
21	46002345	TCAGA	T	G46002348C	COL6A1	NM_001848.3(COL6A1):c.2197_2200del:p.Asp733fs	coding	Pathogenic
21	46002718	T	TGGGGCCGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGC	A46002725G	COL6A1	NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC	noncoding	Benign
21	46111574	GAAAC	G	A46111577C	COL6A2	NM_001849.4(COL6A2):c.101_104del:p.Asn34fs	coding	Pathogenic
21	46113844	AC	A	C46113848A	COL6A2	NM_001849.4(COL6A2):c.736-160del	noncoding	Benign
21	46114703	GTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATT	G	T46114704G	COL6A2	NM_001849.4(COL6A2):c.801+631_882del	noncoding	Pathogenic
21	46116020	CATCGAAGGCCCCATTGGATTCCCAGGACCCA	C	T46116022G	COL6A2	NM_001849.4(COL6A2):c.869_899del:p.Ile290fs	coding	Pathogenic
21	46116356	CCT	C	T46116362C	COL6A2	NM_001849.4(COL6A2):c.901-20CT[2]	noncoding	Benign
21	46116368	TGCCCCCAGG	T	C46116371G	COL6A2	NM_001849.4(COL6A2):c.901-6_903del	noncoding	Pathogenic
21	46116811	GA	G	A46116813G	COL6A2	NM_001849.4(COL6A2):c.998del:p.Lys333fs	coding	Pathogenic
21	46116823	AGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTC	GCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA	A46116823G	COL6A2	NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA	noncoding	Pathogenic
21	46116926	TAC	T	A46116955G	COL6A2	NM_001849.4(COL6A2):c.999+113AC[14]	noncoding	Benign
21	46116926	T	TACACACACAC	G46116957A	COL6A2	NM_001849.4(COL6A2):c.999+113AC[20]	noncoding	Benign
21	46116926	T	TACACACAC	G46116957A	COL6A2	NM_001849.4(COL6A2):c.999+113AC[19]	noncoding	Benign
21	46116926	T	TACACAC	G46116957A	COL6A2	NM_001849.4(COL6A2):c.999+113AC[18]	noncoding	Benign
21	46116926	T	TACAC	G46116957A	COL6A2	NM_001849.4(COL6A2):c.999+113AC[17]	noncoding	Benign
21	46116926	T	TAC	G46116957A	COL6A2	NM_001849.4(COL6A2):c.999+113AC[16]	noncoding	Benign
21	46117752	T	TG	C46117756G	COL6A2	NM_001849.4(COL6A2):c.1054-119dup	noncoding	Benign
21	46117872	AG	A	G46117875C	COL6A2	NM_001849.4(COL6A2):c.1055delG	noncoding	Pathogenic
21	46117890	C	CG	A46117896G	COL6A2	NM_001849.4(COL6A2):c.1075dup:p.Glu359fs	coding	Pathogenic
21	46120115	AC	A	C46120121G	COL6A2	NM_001849.4(COL6A2):c.1332+271del	noncoding	Benign
21	46120123	GCC	G	C46120127A	COL6A2	NM_001849.4(COL6A2):c.1332+277_1332+278del	noncoding	Benign
21	46120151	G	GCC	A46120155C	COL6A2	NM_001849.4(COL6A2):c.1332+303_1332+304dup	noncoding	Benign
21	46121085	AG	A	G46121086A	COL6A2	NM_001849.4(COL6A2):c.1421del:p.Arg474fs	coding	Pathogenic
21	46121575	G	GT	G46121577T	COL6A2	NM_001849.4(COL6A2):c.1479dup:p.Asp494Ter	coding	Pathogenic
21	46121583	GGACCCCGTGGAGACTCAGGACAGCCA	G	A46121585G	COL6A2	NM_001849.4(COL6A2):c.1488_1513del:p.Arg498fs	coding	Pathogenic
21	46122740	G	GC	A46122742C	COL6A2	NM_001849.4(COL6A2):c.1609-134dup	noncoding	Benign
21	46124537	GCC	G	C46124547G	COL6A2	NM_001849.4(COL6A2):c.1672-104_1672-103del	noncoding	Benign
21	46124537	GC	G	C46124548G	COL6A2	NM_001849.4(COL6A2):c.1672-103del	noncoding	Benign
21	46124662	T	TC	T46124668C	COL6A2	NM_001849.4(COL6A2):c.1688dup:p.Gly564fs	coding	Pathogenic
21	46125896	T	TCG	A46125899C	COL6A2	NM_001849.4(COL6A2):c.2082_2083dup:p.Glu695fs	coding	Pathogenic
21	46126476	T	TGGCCCGGCCCGGCCCGGCCC	T46126486C	COL6A2	NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC	noncoding	Benign/Likely_benign
21	46126476	T	TGGCCC	T46126486C	COL6A2	NM_001849.4(COL6A2):c.2423-22_2423-18dup	noncoding	Benign
21	46131991	CAT	C	A46131992C	COL6A2	NM_001849.4(COL6A2):c.2500_2501del:p.Ile834fs	coding	Pathogenic
21	46132049	C	CGGCGCTTCGT	A46132062C	COL6A2	NM_001849.4(COL6A2):c.2560_2569dup:p.Glu857fs	coding	Pathogenic
21	46132076	C	CG	C46132079G	COL6A2	NM_001849.4(COL6A2):c.2586dup:p.Leu863fs	coding	Pathogenic
21	46132154	C	CAG	C46132157A	COL6A2	NM_001849.4(COL6A2):c.2663_2664dup:p.Gln889fs	coding	Pathogenic
21	46132342	CGT	C	G46132343C	COL6A2	NM_001849.4(COL6A2):c.2851_2852del:p.Val951fs	coding	Pathogenic
21	46132479	T	TG	T46132481G	COL6A2	NM_001849.4(COL6A2):c.2988dup:p.Phe997fs	coding	Pathogenic
21	46138498	G	GC	T46138505C	FTCD	NM_206965.2(FTCD):c.1443+4dup	noncoding	Benign
21	46145597	T	TG	T46145603G	FTCD	NM_206965.2(FTCD):c.1099-20dup	noncoding	Benign
21	46152890	C	CG	C46152898G	FTCD	NM_206965.2(FTCD):c.367+16dup	noncoding	Benign
21	46152980	G	GC	T46152985C	FTCD	NM_206965.2(FTCD):c.293dup:p.Val99fs	coding	Pathogenic
21	46191025	TG	T	G46191028A	LSS	NM_002340.6(LSS):c.*78del	noncoding	Benign
21	46195563	AAAAC	A	A46195584C	LSS	NM_002340.6(LSS):c.1817+89GTTT[5]	noncoding	Benign
21	46207802	CCT	C	C46207803G	LSS	NM_002340.6(LSS):c.1318-227_1318-226del	noncoding	Benign
21	46215388	T	TC	A46215392C	LSS	NM_002340.6(LSS):c.893-93dup	noncoding	Benign
21	46227704	GAAA	G	A46227715G	LSS	NM_002340.6(LSS):c.181-17_181-15del	noncoding	Benign
21	46227704	GAA	G	A46227716G	LSS	NM_002340.6(LSS):c.181-16_181-15del	noncoding	Benign
21	46227704	G	GA	G46227718A	LSS	NM_002340.6(LSS):c.181-27dup	noncoding	Benign/Likely_benign
21	46228665	AGTCGCGCTCTCCTCAGCACCTAGGACCACCCCGCATTCGTCAGGAGCCCGGGGCGAGGGGACTCACGTGCCCTCCGTCATTGCTGCTGCAGTGCTCTACGCCGCCCACTGCCAGCTGCCAGATGTCCGCACCCGGGACCTGCCGCCCAGCCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCTCCCGCGCGCACTACGCAGGCGCAGGCCTCGGCAGGCGCTCAGGCTTAGGTGGGCCGACGCCCACGCAACCAATCAGAGCGCCGCGAGCGTGACCCCGGGGTGTGCCAGGCGACCACAGTGGTGGAGCGCTTGGTGCCCCATGCGGCGTGGGGC	A	T46228667G	LSS	NC_000021.8:g.47648580_47648918del	coding	Pathogenic
21	46242985	CA	C	A46242999C	MCM3AP	NM_003906.5(MCM3AP):c.5297-55del	coding	Benign
21	46242985	C	CA	C46243000A	MCM3AP	NM_003906.5(MCM3AP):c.5297-68dup	coding	Benign
21	46245007	TTAAACAGC	T	A46245009C	MCM3AP	NM_003906.5(MCM3AP):c.4830_4837del:p.Leu1611fs	coding	Pathogenic
21	46245202	GAAGA	G	A46245208G	MCM3AP	NM_003906.5(MCM3AP):c.4648-9_4648-6del	noncoding	Benign
21	46246879	TG	T	G46246882C	MCM3AP	NM_003906.5(MCM3AP):c.4297del:p.His1433fs	coding	Pathogenic
21	46251361	A	AAAT	T46251365A	MCM3AP	NM_003906.5(MCM3AP):c.4290+165_4290+167dup	coding	Benign
21	46251692	T	TA	C46251701A	MCM3AP	NM_003906.5(MCM3AP):c.4137-11dup	coding	Benign
21	46256912	ACGCAGCAGGG	A	C46256923A	MCM3AP	NM_003906.5(MCM3AP):c.3799_3808del:p.Pro1267fs	coding	Pathogenic
21	46258737	A	ATGTGTGTGTGTGTGTG	A46258759G	MCM3AP	NM_003906.5(MCM3AP):c.3734+182CA[18]	noncoding	Benign
21	46258737	A	ATGTGTGTGTGTGTGTGTG	A46258759G	MCM3AP	NM_003906.5(MCM3AP):c.3734+182CA[19]	noncoding	Benign
21	46258737	ATG	A	G46258757A	MCM3AP	NM_003906.5(MCM3AP):c.3734+182CA[9]	noncoding	Benign
21	46260866	G	GGCTCA	C46260877G	MCM3AP	NM_003906.5(MCM3AP):c.3503_3507dup:p.Gln1170Ter	coding	Pathogenic
21	46260896	CTT	C	T46260897G	MCM3AP	NM_003906.5(MCM3AP):c.3476_3477del:p.Gln1159fs	coding	Pathogenic
21	46261325	TC	T	C46261327T	MCM3AP	NM_003906.5(MCM3AP):c.3421del:p.Glu1141fs	coding	Pathogenic
21	46265303	GAA	G	A46265309G	MCM3AP	NM_003906.5(MCM3AP):c.3234+16_3234+17del	noncoding	Benign
21	46272997	G	GT	G46273009T	MCM3AP	NM_003906.5(MCM3AP):c.2197-179dup	noncoding	Benign
21	46283541	C	CA	C46283554A	MCM3AP	NM_003906.5(MCM3AP):c.1443+62dup	noncoding	Benign
21	46283784	C	CG	T46283785G	MCM3AP	NM_003906.5(MCM3AP):c.1273_1274insC:p.Ser425fs	coding	Pathogenic
21	46284179	CAG	C	G46284181C	MCM3AP	NM_003906.5(MCM3AP):c.1106_1107del:p.Ser369fs	coding	Pathogenic
21	46285175	GAGA	G	A46285178G	MCM3AP	NM_003906.5(MCM3AP):c.109_111del:p.Ser37del	coding	Benign
21	46285612	T	TAA	G46285625A	MCM3AP	Single_allele	noncoding	Benign
21	46285612	T	TA	G46285625A	MCM3AP	Single_allele	noncoding	Benign
21	46324552	T	TGCGCC	T46324558G	PCNT	NM_006031.6(PCNT):c.54+271_54+275dup	noncoding	Benign
21	46324568	G	GGT	G46324570T	PCNT	NM_006031.6(PCNT):c.54+287_54+288insTG	noncoding	Benign
21	46324568	G	GT	G46324569T	PCNT	NM_006031.6(PCNT):c.54+286_54+287insT	noncoding	Benign
21	46353136	C	CG	T46353138G	PCNT	NM_006031.6(PCNT):c.1490dup:p.Val498fs	coding	Pathogenic
21	46353196	G	GA	G46353198A	PCNT	NM_006031.6(PCNT):c.1550dup:p.Gln518fs	coding	Pathogenic
21	46353283	CA	C	A46353284G	PCNT	NM_006031.6(PCNT):c.1637del:p.Gln546fs	coding	Pathogenic
21	46363671	A	AC	A46363673C	PCNT	NM_006031.6(PCNT):c.2347dup:p.Gln783fs	coding	Pathogenic
21	46366787	A	AG	C46366793G	PCNT	NM_006031.6(PCNT):c.2818dup:p.Ala940fs	coding	Pathogenic
21	46366988	ACT	A	C46366993T	PCNT	NM_006031.6(PCNT):c.3019_3020del:p.Leu1007fs	coding	Pathogenic
21	46390565	T	TGAC	G46390570A	PCNT	NM_006031.6(PCNT):c.3841-103_3841-101dup	noncoding	Benign
21	46397755	G	GGCTGGGCCTGT	C46397771G	PCNT	NM_006031.6(PCNT):c.4447-254_4447-244dup	noncoding	Benign
21	46401535	C	CT	A46401546T	PCNT	NM_006031.6(PCNT):c.4792-6dup	noncoding	Benign
21	46401535	CT	C	T46401545A	PCNT	NM_006031.6(PCNT):c.4792-6del	noncoding	Benign
21	46402149	G	GC	T46402152C	PCNT	NM_006031.6(PCNT):c.4963-180dup	noncoding	Benign
21	46402341	TAAAA	T	A46402342G	PCNT	NM_006031.6(PCNT):c.4974_4977del:p.Lys1659fs	coding	Pathogenic
21	46402426	GAA	G	A46402427C	PCNT	NM_006031.6(PCNT):c.5059_5060del:p.Asn1687fs	coding	Pathogenic
21	46413001	AG	A	G46413007A	PCNT	NM_006031.6(PCNT):c.6150+15del	noncoding	Benign
21	46415966	C	CCT	G46415967C	PCNT	NM_006031.6(PCNT):c.6151-103_6151-102insCT	noncoding	Benign
21	46416301	CAT	C	A46416302G	PCNT	NM_006031.6(PCNT):c.6384_6385del:p.Thr2128_Cys2129insTer	coding	Pathogenic
21	46416329	T	TG	T46416331G	PCNT	NM_006031.6(PCNT):c.6412dup:p.Val2138fs	coding	Pathogenic
21	46421970	G	GT	G46421972T	PCNT	NM_006031.6(PCNT):c.7026dup:p.Asp2343Ter	coding	Pathogenic
21	46426069	C	CT	G46426097T	PCNT	NM_006031.6(PCNT):c.7320+125dup	noncoding	Benign
21	46426069	CTT	C	T46426095G	PCNT	NM_006031.6(PCNT):c.7320+124_7320+125del	noncoding	Benign
21	46426069	CTTTTTTTTTT	C	T46426087G	PCNT	NM_006031.6(PCNT):c.7320+116_7320+125del	noncoding	Benign
21	46426074	T	TTTTC	T46426078C	PCNT	NM_006031.6(PCNT):c.7320+106_7320+107insCTTT	noncoding	Benign
21	46426075	T	TTTC	T46426078C	PCNT	NM_006031.6(PCNT):c.7320+106_7320+107insCTT	noncoding	Benign
21	46426100	A	ACAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAAT	T46426102A	PCNT	NM_006031.6(PCNT):c.7320+130_7320+131insAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAATC	noncoding	Benign
21	46428407	GA	G	A46428411G	PCNT	NM_006031.6(PCNT):c.7511del:p.Lys2504fs	coding	Pathogenic
21	46430158	CTG	C	T46430161A	PCNT	NM_006031.6(PCNT):c.7842_7843del:p.Cys2614_Glu2615delinsTer	coding	Pathogenic/Likely_pathogenic
21	46430737	CT	C	T46430741C	PCNT	NM_006031.6(PCNT):c.8064+84del	noncoding	Benign
21	46430893	G	GC	G46430903C	PCNT	NM_006031.6(PCNT):c.8064+245dup	noncoding	Benign
21	46431510	G	GT	A46431512T	PCNT	NM_006031.6(PCNT):c.8065-18dup	noncoding	Benign
21	46432006	GA	G	A46432008G	PCNT	NM_006031.6(PCNT):c.8544del:p.Ala2849fs	coding	Pathogenic
21	46432237	A	AG	C46432239G	PCNT	NM_006031.6(PCNT):c.8751+23dup	noncoding	Benign
21	46437286	TTGTGTGGTCTTCGGGGGCTGAGCCCTGCTGCCATGGGATGCTGTGTGAC	T	T46437330C	PCNT	NM_006031.6(PCNT):c.9099+249_9099+297del	noncoding	Benign
21	46440917	AAAG	A	A46440921T	PCNT	NM_006031.6(PCNT):c.9457AAG[1]:p.Lys3154del	coding	Pathogenic
21	46444647	CT	C	T46444664C	PCNT	NM_006031.6(PCNT):c.9840-30del	noncoding	Benign
21	46444647	CTT	C	T46444663C	PCNT	NM_006031.6(PCNT):c.9840-31_9840-30del	noncoding	Benign
21	46444647	CTTT	C	T46444662C	PCNT	NM_006031.6(PCNT):c.9840-32_9840-30del	noncoding	Benign
21	46445055	C	CT	G46445062T	PCNT	NM_006031.6(PCNT):c.9968-223dup	noncoding	Benign
22	17097104	GTTC	G	C17097113G	IL17RA	NM_014339.7(IL17RA):c.163+19TTC[2]	noncoding	Benign
22	17097844	T	TC	T17097847C	IL17RA	NM_014339.7(IL17RA):c.213dup:p.Ser72fs	coding	Pathogenic
22	17107713	C	CT	C17107718T	IL17RA	NM_014339.7(IL17RA):c.1046-10dup	noncoding	Benign
22	17182776	ATGGTCTTCCATGGGGGATGGATGGGTC	A	G17182806A	ADA2	NM_001282225.2(ADA2):c.1082-42_1082-16del	noncoding	Benign
22	17188379	AT	A	T17188380C	ADA2	NM_001282225.2(ADA2):c.1040del:p.Asp347fs	coding	Pathogenic
22	17189972	CTT	C	T17189973G	ADA2	NM_001282225.2(ADA2):c.940_941del:p.Lys314fs	coding	Pathogenic
22	17190042	AG	A	G17190043A	ADA2	NM_001282225.2(ADA2):c.882-11del	noncoding	Benign
22	17203679	TGAA	T	A17203685T	ADA2	NM_001282225.2(ADA2):c.631TTC[1]:p.Phe212del	coding	Pathogenic
22	17209519	GT	G	T17209521C	ADA2	NM_001282225.2(ADA2):c.158del:p.Asn53fs	coding	Pathogenic
22	17209889	A	AT	G17209909T	ADA2	NM_001282225.2(ADA2):c.-46-185dup	noncoding	Benign
22	17594620	CA	C	A17594630G	ATP6V1E1	NM_001696.4(ATP6V1E1):c.531-5del	noncoding	Benign
22	17594620	C	CA	G17594631A	ATP6V1E1	NM_001696.4(ATP6V1E1):c.531-14dup	noncoding	Benign/Likely_benign
22	17619534	GA	G	A17619541G	ATP6V1E1	NM_001696.4(ATP6V1E1):c.34-9del	noncoding	Benign
22	18078404	GC	G	C18078410T	PEX26	NM_001127649.3(PEX26):c.34del:p.Leu12fs	coding	Pathogenic
22	18083419	G	GT	G18083426T	PEX26	NM_001127649.3(PEX26):c.372-12dup	noncoding	Benign
22	18083677	GC	G	C18083678A	PEX26	NM_001127649.3(PEX26):c.613del:p.Gln205fs	coding	Pathogenic
22	18121470	TC	T	C18121474A	TUBA8	NM_018943.3(TUBA8):c.4-5del	noncoding	Benign
22	18130590	AT	A	T18130606G	TUBA8	NM_018943.3(TUBA8):c.1057-237del	noncoding	Benign
22	18130590	ATT	A	T18130605G	TUBA8	NM_018943.3(TUBA8):c.1057-238_1057-237del	noncoding	Benign
22	18130701	CCTGTTGCATCCCAT	C	C18130702A	TUBA8	NM_018943.3(TUBA8):c.1057-141_1057-128del	noncoding	Benign
22	18913814	CCT	C	T18913820A	PRODH	NM_016335.6(PRODH):c.1527-294AG[2]	noncoding	Benign
22	18921642	G	GA	G18921643A	PRODH	NM_016335.6(PRODH):c.930-220_930-219insT	noncoding	Benign
22	18922771	AC	A	C18922776T	PRODH	NM_016335.6(PRODH):c.849+45del	noncoding	Benign
22	18922937	CA	C	A18922940C	PRODH	NM_016335.6(PRODH):c.733-5del	noncoding	Benign
22	18925191	T	TTATTC	G18925197T	PRODH	NM_016335.6(PRODH):c.522_526dup:p.Lys176fs	coding	Pathogenic
22	19175882	A	AGGCACAGGGTTCACAGTAAGCACATGGACAAGTG	C19175893T	SLC25A1	NM_005984.5(SLC25A1):c.*247_*248insCACTTGTCCATGTGCTTACTGTGAACCCTGTGCC	noncoding	Benign
22	19176064	C	CAT	G19176065A	SLC25A1	NM_005984.5(SLC25A1):c.*65_*66insAT	noncoding	Benign
22	19178649	C	CGCGCGGG	C19178671G	SLC25A1	NM_005984.5(SLC25A1):c.18_24dup:p.Ala9fs	coding	Pathogenic
22	19387929	TCCTGGTTCCCTTCTGTGG	T	G19387944T	HIRA	NM_003325.4(HIRA):c.1008-131_1008-114del	noncoding	Benign
22	19410788	AAG	A	G19410790A	HIRA	NM_003325.4(HIRA):c.38-12_38-11del	noncoding	Benign
22	19431482	G	GGCC	G19431499C	HIRA	NM_003325.4(HIRA):c.-21GGC[6]	noncoding	Benign
22	19479234	A	AG	T19479242G	UFD1	Single_allele	noncoding	Benign
22	19505443	ACT	A	T19505447C	CDC45	NM_003504.5(CDC45):c.790_791del:p.Ser264fs	coding	Pathogenic
22	19507472	CTG	C	T19507475C	CDC45	NM_003504.5(CDC45):c.914_915del:p.Val305fs	coding	Pathogenic
22	19516528	CAAAG	C	A19516531C	CDC45	NM_003504.5(CDC45):c.1445_1448del:p.Lys482fs	coding	Pathogenic
22	19723861	C	CG	C19723866G	GP1BB	NM_000407.5(GP1BB):c.22dup:p.Ala8fs	coding	Pathogenic
22	19724154	T	TGGCC	C19724164G	GP1BB	NM_000407.5(GP1BB):c.317_320dup:p.Glu109fs	coding	Pathogenic
22	19724285	T	TG	C19724292G	GP1BB	NM_000407.5(GP1BB):c.448dup:p.Ala150fs	coding	Pathogenic
22	19759559	G	TC	G19759559T	TBX1	NM_080647.1(TBX1):c.-85delinsTC	noncoding	Benign
22	19761028	GCGCCGCCGCCGCCCCCGGCGCCCCGGGCCCGCCGC	G	C19761038A	TBX1	NM_001379200.1(TBX1):c.195_229del:p.Ala66fs	coding	Pathogenic
22	19765038	T	TGCCGA	G19765045C	TBX1	NM_001379200.1(TBX1):c.794_798dup:p.Glu267fs	coding	Pathogenic
22	19765769	CA	C	A19765771G	TBX1	NM_001379200.1(TBX1):c.881del:p.Lys294fs	coding	Pathogenic
22	19765890	TC	T	C19765893G	TBX1	NM_001379200.1(TBX1):c.936-9del	noncoding	Benign
22	19766444	CG	C	G19766448A	TBX1	NM_001379200.1(TBX1):c.1096del:p.Asp366fs	coding	Pathogenic
22	19766468	GC	G	C19766469T	TBX1	NM_001379200.1(TBX1):c.1117del:p.Leu373fs	coding	Pathogenic
22	19766530	C	CGA	C19766532A	TBX1	NM_001379200.1(TBX1):c.1179_1180insAG:p.Leu394fs	coding	Pathogenic
22	19766671	GCCGGCCGGCGCCCTACCCGCTGC	G	G19766678T	TBX1	NM_001379200.1(TBX1):c.1326_1348del:p.Pro444fs	coding	Pathogenic
22	19766760	CCAGCCGCCGCGGCCGCCGCCGCCGCTGCCG	C	C19766765T	TBX1	NM_001379200.1(TBX1):c.1413_1442del:p.Ala476_Ala485del	coding	Benign/Likely_benign
22	19875633	TG	T	G19875642T	TXNRD2	NM_006440.5(TXNRD2):c.*239del	noncoding	Benign
22	19894969	CA	C	A19894986G	TXNRD2	NM_006440.5(TXNRD2):c.949+437del	coding	Benign
22	19894969	C	CA	G19894987A	TXNRD2	NM_006440.5(TXNRD2):c.949+421dup	coding	Benign
22	19915856	GAT	G	T19915858A	TXNRD2	NM_006440.5(TXNRD2):c.450-15_450-14del	noncoding	Benign/Likely_benign
22	19919170	AAC	A	C19919172G	TXNRD2	NM_006440.5(TXNRD2):c.230-168_230-167del	noncoding	Benign
22	19919729	G	GGCTGAGCTGCGCAATGCTAGGGACCCCTGATCTGCCTCTGCGCTCTGGCCC	T19919780C	TXNRD2	NM_006440.5(TXNRD2):c.173-131_173-130insGGCCAGAGCGCAGAGGCAGATCAGGGGTCCCTAGCATTGCGCAGCTCAGCG	noncoding	Benign
22	19941618	T	TG	C19941621G	TXNRD2	NM_006440.5(TXNRD2):c.103+81dup	noncoding	Benign
22	19941683	G	GC	G19941688C	TXNRD2	NM_006440.5(TXNRD2):c.103+14dup	noncoding	Benign/Likely_benign
22	19971145	CGG	C	G19971146A	ARVCF	NM_001670.3(ARVCF):c.*12+69_*12+70del	noncoding	Benign
22	19973487	C	CG	A19973494G	ARVCF	NM_001670.3(ARVCF):c.2239+150dup	noncoding	Benign
22	20036972	GGCCTGGCACT	G	T20036976C	TANGO2	NM_152906.7(TANGO2):c.56+122_56+131del	coding	Benign
22	20053298	T	TG	C20053300G	TANGO2	NM_152906.7(TANGO2):c.266-138dup	noncoding	Benign
22	20061891	G	GGGCCCA	G20061918C	TANGO2	NM_152906.7(TANGO2):c.605+209GGCCCA[5]	noncoding	Benign
22	20425688	G	GC	G20425690C	SCARF2	NM_182895.5(SCARF2):c.2287dup:p.Ala763fs	coding	Benign
22	20425727	A	AG	C20425730G	SCARF2	NM_182895.5(SCARF2):c.2248dup:p.Leu750fs	coding	Benign
22	20425739	C	CG	C20425742G	SCARF2	NM_182895.5(SCARF2):c.2236dup:p.Arg746fs	coding	Benign
22	20427209	T	TGAGCAGCAGA	T20427211A	SCARF2	NM_182895.5(SCARF2):c.1693+188_1693+189insCTCTGCTGCT	noncoding	Benign
22	20429350	C	CG	T20429355G	SCARF2	NM_182895.5(SCARF2):c.1425-11dup	coding	Pathogenic
22	20429364	AGGGGCGGGGCC	A	G20429376C	SCARF2	NM_182895.5(SCARF2):c.1425-35_1425-25del	noncoding	Benign
22	20431394	GCTGGCA	G	T20431402G	SCARF2	NM_182895.5(SCARF2):c.466TGCCAG[1]:p.156CQ[1]	coding	Pathogenic
22	20564529	ACAG	A	G20564550A	MED15	NM_001003891.3(MED15):c.534GCA[6]:p.Gln188del	coding	Pathogenic
22	20564628	CCAG	C	G20564652T	MED15	NM_001003891.3(MED15):c.633GCA[7]:p.Gln218del	coding	Pathogenic
22	20564628	C	CCAG	T20564655G	MED15	NM_001003891.3(MED15):c.633GCA[9]:p.Gln218_His219insGln	coding	Pathogenic
22	20566526	A	ACAGCAGCAG	G20566563C	MED15	NM_001003891.3(MED15):c.751CAG[15]:p.Gln262_Ala263insGlnGlnGln	coding	Pathogenic
22	20566526	A	ACAG	G20566563C	MED15	NM_001003891.3(MED15):c.751CAG[13]:p.Gln262_Ala263insGln	coding	Pathogenic
22	20566526	ACAG	A	C20566560G	MED15	NM_001003891.3(MED15):c.751CAG[11]:p.Gln262del	coding	Pathogenic
22	20709687	A	AAT	G20709689T	PI4KA	NM_058004.4(PI4KA):c.6173+220_6173+221insTA	noncoding	Benign
22	20709921	TTGTC	T	T20709924G	PI4KA	NM_058004.4(PI4KA):c.6156_6159del:p.Thr2053fs	coding	Pathogenic
22	20710716	TC	T	C20710717G	PI4KA	NM_058004.4(PI4KA):c.6065del:p.Arg2022fs	coding	Pathogenic
22	20711299	CA	C	A20711300G	PI4KA	NM_058004.4(PI4KA):c.5923+41del	noncoding	Benign
22	20714457	CCTT	C	C20714461T	PI4KA	NM_058004.4(PI4KA):c.5456AAG[1]:p.Glu1820del	noncoding	Pathogenic
22	20726433	T	TG	T20726436G	PI4KA	NM_058004.4(PI4KA):c.4995+53dup	noncoding	Benign
22	20742939	C	CT	A20742953T	PI4KA	NM_058004.4(PI4KA):c.3457-188dup	noncoding	Benign
22	20744446	TG	T	G20744448T	PI4KA	NM_058004.4(PI4KA):c.3456+181del	noncoding	Benign
22	20747363	TA	T	A20747375G	PI4KA	NM_058004.4(PI4KA):c.3363+219del	noncoding	Benign
22	20764900	A	AG	T20764907G	PI4KA	NM_058004.4(PI4KA):c.2624dup:p.Pro876fs	coding	Pathogenic
22	20793293	TA	T	A20793305C	PI4KA	NM_058004.4(PI4KA):c.2278-51del	noncoding	Benign
22	20793293	T	TA	C20793306A	PI4KA	NM_058004.4(PI4KA):c.2278-62dup	noncoding	Benign
22	20799479	C	CT	C20799482T	PI4KA	NM_058004.4(PI4KA):c.1820+190dup	noncoding	Benign
22	20804141	G	GCAC	A20804142C	PI4KA	NM_058004.4(PI4KA):c.1461+158_1461+159insGTG	noncoding	Benign
22	20804142	AT	A	T20804143G	PI4KA	NM_058004.4(PI4KA):c.1461+157del	noncoding	Benign
22	20813317	G	GACA	T20813321A	PI4KA	NM_058004.4(PI4KA):c.1005+38_1005+40dup	noncoding	Benign
22	20870461	ATTAC	A	A20870464C	SNAP29	NM_004782.4(SNAP29):c.365_368del:p.Tyr122fs	coding	Pathogenic
22	20887565	GT	G	T20887566C	SNAP29	NM_004782.4(SNAP29):c.620-113del	noncoding	Benign
22	20982389	CA	C	A20982390C	LZTR1	NM_006767.4(LZTR1):c.19del:p.Thr7fs	coding	Pathogenic
22	20982390	ACG	CC	A20982390C	LZTR1	NM_006767.4(LZTR1):c.19_21delinsCC:p.Thr7fs	coding	Pathogenic
22	20982391	C	CG	C20982399G	LZTR1	NM_006767.4(LZTR1):c.27dup:p.Gln10fs	coding	Pathogenic/Likely_pathogenic
22	20982414	GC	G	C20982417T	LZTR1	NM_006767.4(LZTR1):c.46del:p.Leu16fs	coding	Pathogenic
22	20982442	TA	T	A20982443G	LZTR1	NM_006767.4(LZTR1):c.72del:p.Ala25fs	coding	Pathogenic
22	20982506	CG	C	G20982509C	LZTR1	NM_006767.4(LZTR1):c.138del:p.Phe48fs	coding	Pathogenic
22	20982532	G	GGCGGCGCCTCCCGCCCT	A20982553G	LZTR1	NM_006767.4(LZTR1):c.165_181dup:p.Asp61fs	coding	Pathogenic
22	20982564	GGT	A	G20982564A	LZTR1	NM_006767.4(LZTR1):c.193_195delinsA:p.Gly65fs	coding	Pathogenic
22	20983036	GCA	G	C20983041G	LZTR1	NM_006767.4(LZTR1):c.215_216del:p.Thr72fs	coding	Pathogenic
22	20983039	C	CA	C20983041A	LZTR1	NM_006767.4(LZTR1):c.214dup:p.Thr72fs	coding	Pathogenic
22	20983054	T	TAAAGATGCCATTTAGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T20983069G	LZTR1	NM_006767.4(LZTR1):c.242_243insGGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATGCCATTTA:p.Tyr81Ter	coding	Pathogenic
22	20983087	TG	T	G20983090T	LZTR1	NM_006767.4(LZTR1):c.263+1del	coding	Pathogenic
22	20985844	GACCAT	G	A20985845G	LZTR1	NM_006767.4(LZTR1):c.268_272del:p.Thr90fs	coding	Pathogenic
22	20987388	CAAAAAAA	C	A20987397G	LZTR1	NM_006767.4(LZTR1):c.321-107_321-101del	noncoding	Benign
22	20987388	C	CA	G20987404A	LZTR1	NM_006767.4(LZTR1):c.321-101dup	noncoding	Benign
22	20987529	GC	G	C20987535G	LZTR1	NM_006767.4(LZTR1):c.352del:p.Arg118fs	coding	Pathogenic
22	20987529	G	GC	G20987536C	LZTR1	NM_006767.4(LZTR1):c.352dup:p.Arg118fs	coding	Pathogenic/Likely_pathogenic
22	20987554	TCGTCTATGGGAGCA	T	C20987555G	LZTR1	NM_006767.4(LZTR1):c.372_385del:p.Val125fs	coding	Pathogenic/Likely_pathogenic
22	20987564	G	GA	G20987566A	LZTR1	NM_006767.4(LZTR1):c.382dup:p.Ser128fs	coding	Pathogenic
22	20988008	AG	A	G20988013T	LZTR1	NM_006767.3:c.404delG	noncoding	Pathogenic
22	20988053	TA	T	A20988058C	LZTR1	NM_006767.4(LZTR1):c.449del:p.Asn150fs	coding	Pathogenic
22	20988795	A	AT	G20988796T	LZTR1	NM_006767.4(LZTR1):c.516_517insT:p.Val173fs	coding	Pathogenic
22	20988797	TC	T	C20988798G	LZTR1	NM_006767.4(LZTR1):c.519del:p.Ala174fs	coding	Pathogenic
22	20988807	AG	A	G20988808C	LZTR1	NM_006767.4(LZTR1):c.529del:p.Ala177fs	coding	Pathogenic/Likely_pathogenic
22	20988826	TAC	T	C20988828G	LZTR1	NM_006767.4(LZTR1):c.549_550del:p.Tyr183_Ser184delinsTer	coding	Pathogenic
22	20988846	CT	C	T20988849G	LZTR1	NM_006767.4(LZTR1):c.570del:p.Phe190fs	coding	Pathogenic
22	20989634	CAT	C	A20989635G	LZTR1	NM_006767.4(LZTR1):c.604_605del:p.Met202fs	coding	Pathogenic
22	20989637	GT	G	T20989638G	LZTR1	NM_006767.4(LZTR1):c.607del:p.Trp203fs	coding	Pathogenic
22	20989640	GA	G	A20989641C	LZTR1	NM_006767.4(LZTR1):c.610del:p.Thr204fs	coding	Pathogenic
22	20989657	A	AC	G20989660C	LZTR1	NM_006767.4(LZTR1):c.628dup:p.Arg210fs	coding	Pathogenic
22	20989674	TG	T	G20989677A	LZTR1	NM_006767.4(LZTR1):c.646del:p.Glu216fs	coding	Pathogenic
22	20989693	TGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC	T	A20989713G	LZTR1	NM_006767.4(LZTR1):c.651+31_651+67del	noncoding	Benign
22	20990404	A	AT	C20990406T	LZTR1	NM_006767.4(LZTR1):c.671dup:p.Ser227fs	coding	Pathogenic
22	20990405	TC	T	C20990411A	LZTR1	NM_006767.4(LZTR1):c.677del:p.Pro226fs	coding	Pathogenic
22	20990405	T	TC	A20990412C	LZTR1	NM_006767.4(LZTR1):c.677dup:p.Ser227fs	coding	Pathogenic
22	20990414	CT	C	T20990416G	LZTR1	NM_006767.4(LZTR1):c.682del:p.Cys228fs	coding	Pathogenic
22	20990426	TC	T	C20990430G	LZTR1	NM_006767.4(LZTR1):c.696del:p.Val233fs	coding	Pathogenic
22	20990466	T	TG	C20990470G	LZTR1	NM_006767.4(LZTR1):c.735dup:p.Gln246fs	coding	Pathogenic
22	20990481	CA	C	A20990485T	LZTR1	NM_006767.4(LZTR1):c.751del:p.Lys250_Ile251insTer	coding	Pathogenic
22	20990520	CAA	C	A20990521G	LZTR1	NM_006767.4(LZTR1):c.787_788del:p.Lys263fs	coding	Pathogenic
22	20991666	C	CCCCACCA	C20991677A	LZTR1	NM_006767.4(LZTR1):c.834_840dup:p.Pro281fs	coding	Pathogenic
22	20991709	CT	C	T20991712G	LZTR1	NM_006767.4(LZTR1):c.876del:p.Phe292fs	coding	Pathogenic
22	20991711	TTGACCGCCACCTC	T	G20991713A	LZTR1	NM_006767.4(LZTR1):c.877_889del:p.Asp293fs	coding	Pathogenic
22	20991724	CTA	C	A20991726G	LZTR1	NM_006767.4(LZTR1):c.890_891del:p.Tyr297fs	coding	Pathogenic
22	20991730	G	GT	G20991734T	LZTR1	NM_006767.4(LZTR1):c.897dup:p.Gly300fs	coding	Pathogenic
22	20991781	CG	C	G20991782T	LZTR1	NM_006767.4(LZTR1):c.946del:p.Val316fs	coding	Pathogenic
22	20991820	CG	C	G20991821A	LZTR1	NM_006767.4(LZTR1):c.985del:p.Asp329fs	coding	Pathogenic
22	20991821	G	GAC	G20991825C	LZTR1	NM_006767.4(LZTR1):c.987_988dup:p.Ser330fs	coding	Pathogenic
22	20991827	GA	G	A20991828G	LZTR1	NM_006767.4(LZTR1):c.992del:p.Glu331fs	coding	Pathogenic
22	20992219	TG	T	G20992223C	LZTR1	NM_006767.4(LZTR1):c.1003del:p.Ala335fs	coding	Pathogenic
22	20992222	GGCTGAAGT	G	T20992225C	LZTR1	NM_006767.4(LZTR1):c.1005_1012del:p.Glu336fs	coding	Pathogenic/Likely_pathogenic
22	20992231	GC	G	C20992234G	LZTR1	NM_006767.4(LZTR1):c.1014del:p.Glu339fs	coding	Pathogenic
22	20992233	CCGAG	C	G20992239C	LZTR1	NM_006767.4(LZTR1):c.1019_1022del:p.Arg340fs	coding	Pathogenic
22	20992265	AC	A	C20992268T	LZTR1	NM_006767.4(LZTR1):c.1048del:p.Thr349_Leu350insTer	coding	Pathogenic
22	20992271	AC	A	C20992273T	LZTR1	NM_006767.4(LZTR1):c.1053del:p.Tyr352fs	coding	Pathogenic
22	20992283	CG	C	G20992286T	LZTR1	NM_006767.4(LZTR1):c.1066del:p.Val356fs	coding	Pathogenic
22	20992853	CG	C	G20992858C	LZTR1	NM_006767.4(LZTR1):c.1214del:p.Gly405fs	coding	Pathogenic
22	20992868	CA	C	A20992870C	LZTR1	NM_006767.4(LZTR1):c.1226del:p.Asn409fs	coding	Pathogenic
22	20992894	A	AC	A20992896C	LZTR1	NM_006767.4(LZTR1):c.1251dup:p.Arg418fs	coding	Pathogenic
22	20993674	CCTAAAT	TAAGG	C20993674T	LZTR1	NM_006767.4(LZTR1):c.1273_1279delinsTAAGG:p.Pro425_Cys427delinsTer	coding	Pathogenic
22	20993995	GC	G	C20993996A	LZTR1	NM_006767.4(LZTR1):c.1426del:p.Gln476fs	coding	Pathogenic
22	20994108	TGGAGCAGGAGGCC	T	G20994110C	LZTR1	NM_006767.4(LZTR1):c.1456_1468del:p.Glu486fs	coding	Pathogenic
22	20994140	GC	G	C20994145G	LZTR1	NM_006767.4(LZTR1):c.1491del:p.Gly498fs	coding	Pathogenic
22	20994157	TGGTGG	T	T20994160C	LZTR1	NM_006767.4(LZTR1):c.1506_1510del:p.Gly503fs	coding	Pathogenic
22	20994173	CCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGG	C	G20994178T	LZTR1	NM_006767.4(LZTR1):c.1524_1561del:p.Leu509fs	coding	Pathogenic
22	20994184	CG	C	G20994185T	LZTR1	NM_006767.4(LZTR1):c.1531del:p.Val511fs	coding	Pathogenic
22	20994221	GT	G	T20994222G	LZTR1	NM_006767.4(LZTR1):c.1568del:p.Val523fs	coding	Pathogenic
22	20994253	CA	C	A20994256T	LZTR1	NM_006767.4(LZTR1):c.1602del:p.Lys534fs	coding	Pathogenic
22	20994263	CG	C	G20994265A	LZTR1	NM_006767.4(LZTR1):c.1611del:p.Gly539fs	coding	Pathogenic
22	20994281	TG	T	G20994286T	LZTR1	NM_006767.4(LZTR1):c.1615+17del	noncoding	Benign
22	20994621	GC	G	C20994623G	LZTR1	NM_006767.4(LZTR1):c.1681del:p.Arg561fs	coding	Pathogenic
22	20994666	AC	A	C20994668T	LZTR1	NM_006767.4(LZTR1):c.1726del:p.Leu576fs	coding	Pathogenic
22	20994673	GA	G	A20994675C	LZTR1	NM_006767.4(LZTR1):c.1733del:p.Asn578fs	coding	Pathogenic
22	20994720	AAC	A	A20994721T	LZTR1	NM_006767.4(LZTR1):c.1779_1780del:p.Gln593fs	coding	Pathogenic
22	20994889	TG	T	G20994891T	LZTR1	NM_006767.4(LZTR1):c.1807del:p.Val602_Val603insTer	coding	Pathogenic
22	20994925	TG	T	G20994926A	LZTR1	NM_006767.4(LZTR1):c.1842del:p.Met614fs	coding	Pathogenic
22	20994940	GCCTCT	G	T20994948A	LZTR1	NM_006767.4(LZTR1):c.1864_1868del:p.Ser622fs	coding	Pathogenic
22	20994957	ATAGTGGAGATTGTGCGG	A	T20994958C	LZTR1	NM_006767.4(LZTR1):c.1874_1890del:p.Ile625fs	coding	Pathogenic
22	20994975	CG	C	G20994977A	LZTR1	NM_006767.4(LZTR1):c.1893del:p.Lys632fs	coding	Pathogenic
22	20994979	AG	A	G20994980C	LZTR1	NM_006767.4(LZTR1):c.1896del:p.Lys632fs	coding	Pathogenic
22	20994989	GCC	G	C20994993T	LZTR1	NM_006767.4(LZTR1):c.1909_1910del:p.Pro637fs	coding	Pathogenic
22	20994989	GC	G	C20994994T	LZTR1	NM_006767.4(LZTR1):c.1910del:p.Pro637fs	coding	Pathogenic
22	20995041	TC	T	C20995045T	LZTR1	NM_006767.4(LZTR1):c.1942+19del	noncoding	Benign
22	20995801	CTG	C	T20995804A	LZTR1	NM_006767.4(LZTR1):c.2001_2002del:p.Cys667_Asp668delinsTer	coding	Pathogenic
22	20995811	ACT	A	C20995814G	LZTR1	NM_006767.4(LZTR1):c.2011_2012del:p.Leu671fs	coding	Pathogenic
22	20995814	CTG	C	G20995816T	LZTR1	NM_006767.4(LZTR1):c.2013_2014del:p.Leu672fs	coding	Pathogenic
22	20995819	GC	G	C20995820T	LZTR1	NM_006767.4(LZTR1):c.2017del:p.Asp674fs	coding	Pathogenic
22	20995980	TC	T	C20995982G	LZTR1	NM_006767.4(LZTR1):c.2089del:p.Arg697fs	coding	Pathogenic
22	20996001	ATGGGCAGG	A	G20996004A	LZTR1	NM_006767.4(LZTR1):c.2111_2118del:p.Gly704fs	coding	Pathogenic
22	20996069	T	TAC	T20996073C	LZTR1	NM_006767.4(LZTR1):c.2178_2179dup:p.Ile727fs	coding	Pathogenic
22	20996078	T	TA	C20996080A	LZTR1	NM_006767.4(LZTR1):c.2186dup:p.Tyr729Ter	coding	Pathogenic
22	20996086	GG	A	G20996086A	LZTR1	NM_006767.4(LZTR1):c.2193_2194delinsA:p.Val732fs	coding	Pathogenic
22	20996707	CG	C	G20996709C	LZTR1	NM_006767.4(LZTR1):c.2233del:p.Ala745fs	coding	Pathogenic
22	20996709	GC	G	C20996714T	LZTR1	NM_006767.4(LZTR1):c.2238del:p.Tyr747fs	coding	Pathogenic
22	20997235	T	TC	A20997238C	LZTR1	NM_006767.4(LZTR1):c.2412dup:p.Lys805fs	coding	Pathogenic/Likely_pathogenic
22	20997325	GCA	G	C20997326G	LZTR1	NM_006767.4(LZTR1):c.2501_2502del:p.Ala834fs	coding	Pathogenic
22	23573069	AC	A	C23573072A	IGLL1	Single_allele	noncoding	Benign
22	23573387	GC	AT	G23573387A	IGLL1	NM_020070.4(IGLL1):c.520_521delinsAT:p.Ala174Met	coding	Benign
22	23766451	C	CT	G23766471T	CHCHD10	NM_213720.3(CHCHD10):c.262-195dup	noncoding	Benign
22	23766451	CT	C	T23766470G	CHCHD10	NM_213720.3(CHCHD10):c.262-177del	noncoding	Benign
22	23767590	GC	AA	G23767590A	CHCHD10	NM_213720.3(CHCHD10):c.44_45delinsTT:p.Arg15Leu	coding	Pathogenic
22	23787259	CGA	C	A23787261G	SMARCB1	NM_003073.5(SMARCB1):c.92_93del:p.Glu31fs	coding	Pathogenic
22	23787356	G	GGGGC	C23787370G	SMARCB1	NM_003073.5(SMARCB1):c.93+95GGGC[4]	noncoding	Benign
22	23787364	CGG	C	G23787366C	SMARCB1	NM_003073.5(SMARCB1):c.93+104_93+105del	noncoding	Benign
22	23787366	GGC	G	G23787381T	SMARCB1	NM_003073.5(SMARCB1):c.93+105GC[7]	noncoding	Benign
22	23787366	G	GGC	T23787383G	SMARCB1	NM_003073.5(SMARCB1):c.93+105GC[9]	noncoding	Benign
22	23793554	TACAGATC	T	A23793557G	SMARCB1	NM_003073.5(SMARCB1):c.233-2_237del	noncoding	Pathogenic
22	23793630	GGCAACGATGAGAAGTACAAGGCTGTGTCCATCAGCACAGA	G	A23793633C	SMARCB1	NM_003073.5(SMARCB1):c.307_346del:p.Asn103fs	coding	Pathogenic
22	23816639	AC	A	C23816644A	SMARCB1	NM_003073.5(SMARCB1):c.629-126del	noncoding	Benign
22	23816884	A	AC	A23816889C	SMARCB1	NM_003073.5(SMARCB1):c.747dup:p.Thr250fs	coding	Pathogenic
22	23825470	G	GAA	G23825474A	SMARCB1	NM_003073.5(SMARCB1):c.986+57_986+58dup	noncoding	Benign
22	23825557	GTCC	G	C23825565G	SMARCB1	NM_003073.5(SMARCB1):c.986+143TCC[2]	noncoding	Benign
22	23833644	GGA	G	G23833647C	SMARCB1	NM_003073.5(SMARCB1):c.1062_1063del:p.Glu354fs	coding	Pathogenic
22	23833648	ACT	A	C23833651G	SMARCB1	NM_003073.5(SMARCB1):c.1066_1067del:p.Leu356fs	coding	Pathogenic/Likely_pathogenic
22	23834057	TG	T	G23834059C	SMARCB1	NM_003073.5(SMARCB1):c.1119-82del	noncoding	Benign
22	23834166	GC	G	C23834170G	SMARCB1	NM_003073.5(SMARCB1):c.1148del:p.Pro383fs	coding	Pathogenic
22	23834490	GCAACAGGTCATGTTCAATTTCTT	G	C23834517A	SMARCB1	NM_003073.5(SMARCB1):c.*314CAGGTCATGTTCAATTTCTTCAA[1]	noncoding	Benign
22	23834490	G	GCAACAGGTCATGTTCAATTTCTT	A23834540C	SMARCB1	NM_003073.5(SMARCB1):c.*314CAGGTCATGTTCAATTTCTTCAA[3]	noncoding	Benign
22	24063236	A	ATG	C24063259T	CABIN1	NM_012295.4(CABIN1):c.1884+91TG[12]	noncoding	Benign
22	24072233	G	GC	A24072235C	CABIN1	NM_012295.4(CABIN1):c.2476-120dup	noncoding	Benign
22	24365846	CT	C	T24365863A	SPECC1L	NM_015330.6(SPECC1L):c.2984+231del	noncoding	Benign
22	24419434	TAAGGGCCAAGCAGAAAAG	T	C24419445G	SPECC1L-ADORA2A	Single_allele	noncoding	Benign
22	24515251	GT	G	T24515253C	UPB1	NM_016327.3(UPB1):c.674del:p.Phe225fs	coding	Pathogenic
22	24522028	G	GGT	A24522031G	UPB1	NM_016327.3(UPB1):c.916+1_916+2dup	coding	Pathogenic
22	25201744	C	CAT	G25201745A	CRYBB3	NM_004076.5(CRYBB3):c.75+273_75+274insAT	noncoding	Benign
22	25231321	CCAGTACAGTACAGTA	C	T25231340G	CRYBB2	NM_000496.3(CRYBB2):c.450-282CAGTA[3]	noncoding	Benign
22	25231321	CCAGTACAGTA	C	T25231345G	CRYBB2	NM_000496.3(CRYBB2):c.450-282CAGTA[4]	noncoding	Benign
22	25231321	CCAGTA	C	T25231350G	CRYBB2	NM_000496.3(CRYBB2):c.450-282CAGTA[5]	noncoding	Benign
22	25231903	G	GGT	A25231933T	CRYBB2	Single_allele	noncoding	Benign
22	25231903	G	GGTGT	A25231933T	CRYBB2	Single_allele	noncoding	Benign
22	25231903	GGT	G	T25231931A	CRYBB2	Single_allele	noncoding	Benign
22	25231931	TGA	T	A25231955T	CRYBB2	Single_allele	noncoding	Benign
22	25231931	T	TGA	T25231957A	CRYBB2	Single_allele	noncoding	Benign
22	25231931	T	TGTGTGAGA	A25231933T	CRYBB2	Single_allele	noncoding	Benign
22	25231931	T	TGTGTGTGAGAGA	A25231933T	CRYBB2	Single_allele	noncoding	Benign
22	25231931	T	TGTGTGTGTGAGAGA	A25231933T	CRYBB2	Single_allele	noncoding	Benign
22	25761341	CG	C	G25761342C	MYO18B	NM_032608.7(MYO18B):c.39+211del	noncoding	Benign
22	25761379	AGGT	A	T25761397G	MYO18B	NM_032608.7(MYO18B):c.39+249GGT[5]	noncoding	Benign
22	25763402	TAAG	T	A25763406G	MYO18B	NM_032608.7(MYO18B):c.198+17_198+19del	noncoding	Benign
22	25767856	GT	G	T25767857G	MYO18B	NM_032608.7(MYO18B):c.199-258del	noncoding	Benign
22	25769107	AC	A	C25769111A	MYO18B	NM_032608.7(MYO18B):c.1195del:p.Gln399fs	coding	Pathogenic
22	25769432	AG	A	G25769437C	MYO18B	NM_032608.7(MYO18B):c.1512+9del	noncoding	Benign
22	25769859	AT	A	T25769873G	MYO18B	NM_032608.7(MYO18B):c.1513-237del	noncoding	Benign
22	25770183	A	AG	T25770188G	MYO18B	NM_032608.7(MYO18B):c.1579+11dup	noncoding	Benign
22	25781609	C	CAAAAA	G25781626A	MYO18B	NM_032608.7(MYO18B):c.2212-113_2212-109dup	noncoding	Benign
22	25781609	C	CAAAA	G25781626A	MYO18B	NM_032608.7(MYO18B):c.2212-112_2212-109dup	noncoding	Benign
22	25781609	C	CAA	G25781626A	MYO18B	NM_032608.7(MYO18B):c.2212-110_2212-109dup	noncoding	Benign
22	25781609	C	CA	G25781626A	MYO18B	NM_032608.7(MYO18B):c.2212-109dup	noncoding	Benign
22	25847078	C	CAA	T25847092A	MYO18B	NM_032608.7(MYO18B):c.3553-340_3553-339dup	noncoding	Benign
22	25868307	A	AT	C25868314T	MYO18B	NM_032608.7(MYO18B):c.3886-7dup	noncoding	Benign
22	25876630	CTTTA	C	A25876658T	MYO18B	NM_032608.7(MYO18B):c.4224+299TTTA[6]	noncoding	Benign
22	25890884	TCAGGGGTGGC	T	C25890895T	MYO18B	NM_032608.7(MYO18B):c.4434+20_4434+29del	noncoding	Benign
22	25921702	TTG	T	G25921740A	MYO18B	NM_032608.7(MYO18B):c.5517+294TG[18]	noncoding	Benign
22	25921702	TTGTGTGTGTGTGTGTGTGTG	T	G25921722A	MYO18B	NM_032608.7(MYO18B):c.5517+294TG[9]	noncoding	Benign
22	25947487	TACACAC	T	A25947538C	MYO18B	NM_032608.7(MYO18B):c.5632-224AC[25]	noncoding	Benign
22	25947487	TACAC	T	A25947540C	MYO18B	NM_032608.7(MYO18B):c.5632-224AC[26]	noncoding	Benign
22	25947487	T	TACACACAC	C25947544A	MYO18B	NM_032608.7(MYO18B):c.5632-224AC[32]	noncoding	Benign
22	25947487	T	TACACAC	C25947544A	MYO18B	NM_032608.7(MYO18B):c.5632-224AC[31]	noncoding	Benign
22	25947487	T	TACAC	C25947544A	MYO18B	NM_032608.7(MYO18B):c.5632-224AC[30]	noncoding	Benign
22	25947487	T	TAC	C25947544A	MYO18B	NM_032608.7(MYO18B):c.5632-224AC[29]	noncoding	Benign
22	25950345	A	AT	G25950357T	MYO18B	NM_032608.7(MYO18B):c.5749-11dup	noncoding	Benign
22	25950345	AT	A	T25950356G	MYO18B	NM_032608.7(MYO18B):c.5749-11del	noncoding	Benign
22	25950345	ATT	A	T25950355G	MYO18B	NM_032608.7(MYO18B):c.5749-12_5749-11del	noncoding	Benign
22	25955286	GC	TT	G25955286T	MYO18B	NM_032608.7(MYO18B):c.6078_6079delinsTT:p.Arg2027Cys	coding	Benign
22	26453305	AG	A	G26453308T	HPS4	NM_022081.6(HPS4):c.2054del:p.Pro685fs	coding	Pathogenic
22	26458472	A	AG	A26458473G	HPS4	NM_022081.6(HPS4):c.1818_1819insC:p.Tyr607fs	coding	Pathogenic
22	26464242	CT	C	T26464243G	HPS4	NM_022081.6(HPS4):c.1387del:p.Arg463fs	coding	Pathogenic
22	26464477	CT	C	T26464478G	HPS4	NM_022081.6(HPS4):c.1152del:p.Gly385fs	coding	Pathogenic
22	26464528	CGAGTTCTTCTTGGA	C	G26464531A	HPS4	NM_022081.6(HPS4):c.1088_1101del:p.Leu363fs	coding	Pathogenic
22	26464835	CAA	C	A26464836G	HPS4	NM_022081.6(HPS4):c.804-11_804-10del	noncoding	Benign
22	26607560	GA	G	A26607579G	CRYBB1	NM_001887.4(CRYBB1):c.432+328del	noncoding	Benign
22	26607560	G	GAA	G26607580A	CRYBB1	NM_001887.4(CRYBB1):c.432+310_432+311dup	noncoding	Benign
22	26607560	G	GA	G26607580A	CRYBB1	NM_001887.4(CRYBB1):c.432+310dup	noncoding	Benign
22	26625907	C	CT	G26625918T	CRYBA4	NM_001886.3(CRYBA4):c.300+295dup	noncoding	Benign
22	26625907	CT	C	T26625917G	CRYBA4	NM_001886.3(CRYBA4):c.300+295del	noncoding	Benign
22	27750780	A	AG	A27750782G	MN1	NM_002430.3(MN1):c.*134dup	noncoding	Benign
22	27750781	GA	G	A27750793C	MN1	NM_002430.3(MN1):c.*133del	noncoding	Benign
22	27750781	G	GA	C27750794A	MN1	NM_002430.3(MN1):c.*133dup	noncoding	Benign
22	27798945	T	TTGC	T27798975C	MN1	NM_002430.3(MN1):c.1572GCA[10]:p.Gln550dup	coding	Benign
22	27801274	CG	C	G27801279C	MN1	NM_002430.3(MN1):c.-732del	noncoding	Benign
22	27801317	C	CTCGGCAGCGGGTGCGCTGCGT	G27801344A	MN1	NM_002430.3(MN1):c.-795_-775dup	noncoding	Benign
22	28687999	G	GA	T28688004A	CHEK2	NM_007194.4(CHEK2):c.1543-14dup	noncoding	Benign/Likely_benign
22	28689311	A	AG	A28689312G	CHEK2	NM_007194.4(CHEK2):c.1462-97_1462-96insC	noncoding	Benign
22	28694040	AC	A	C28694041G	CHEK2	NM_007194.4(CHEK2):c.1452del:p.Trp485fs	coding	Pathogenic
22	28694049	TTA	T	T28694050A	CHEK2	NM_007194.4(CHEK2):c.1442_1443del:p.Ala480_Leu481insTer	coding	Pathogenic
22	28694067	TA	T	A28694071C	CHEK2	NM_007194.4(CHEK2):c.1425del:p.Phe475fs	coding	Pathogenic
22	28694072	CG	C	G28694073T	CHEK2	NM_007194.4(CHEK2):c.1420del:p.Arg474fs	coding	Pathogenic
22	28694113	CA	C	A28694114G	CHEK2	NM_007194.4(CHEK2):c.1379del:p.Leu460fs	coding	Pathogenic
22	28695134	T	TGA	C28695139G	CHEK2	NM_007194.4(CHEK2):c.1366_1367dup:p.Glu457fs	coding	Pathogenic
22	28695137	GA	G	A28695138C	CHEK2	NM_007194.4(CHEK2):c.1364del:p.Val455fs	coding	Pathogenic
22	28695137	G	GA	C28695139A	CHEK2	NM_007194.4(CHEK2):c.1364dup:p.Ser456fs	coding	Pathogenic
22	28695139	CT	C	T28695141C	CHEK2	NM_007194.4(CHEK2):c.1362del:p.Val455fs	coding	Pathogenic
22	28695141	T	TTG	C28695142T	CHEK2	NM_007194.4(CHEK2):c.1360_1361insCA:p.Glu454fs	coding	Pathogenic
22	28695157	GAA	G	A28695158T	CHEK2	NM_007194.4(CHEK2):c.1343_1344del:p.Ile448fs	coding	Pathogenic
22	28695160	TG	T	G28695161A	CHEK2	NM_007194.4(CHEK2):c.1341del:p.Phe447fs	coding	Pathogenic
22	28695169	AT	A	T28695173C	CHEK2	NM_007194.4(CHEK2):c.1332del:p.Lys444fs	coding	Pathogenic
22	28695177	CT	C	T28695178G	CHEK2	NM_007194.4(CHEK2):c.1324del:p.Ser442fs	coding	Pathogenic
22	28695187	GA	G	A28695188T	CHEK2	NM_007194.4(CHEK2):c.1314del:p.Gln439fs	coding	Pathogenic
22	28695195	AG	A	G28695196T	CHEK2	NM_007194.4(CHEK2):c.1306del:p.Ser435_Leu436insTer	coding	Pathogenic
22	28695210	CTA	ACTGAAGTGACACTTGAGTCAC	C28695210A	CHEK2	NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT:p.His430_Arg431delinsGlnTer	coding	Pathogenic
22	28695217	CAGAG	C	G28695219A	CHEK2	NM_007194.4(CHEK2):c.1281_1284del:p.Phe427fs	coding	Pathogenic
22	28695230	AT	A	T28695231A	CHEK2	NM_007194.4(CHEK2):c.1271del:p.Tyr424fs	coding	Pathogenic
22	28695237	C	CT	A28695239T	CHEK2	NM_007194.4(CHEK2):c.1264dup:p.Ser422fs	coding	Pathogenic
22	28695240	AGG	A	G28695241C	CHEK2	NM_007194.4(CHEK2):c.1260_1261del:p.Cys420_Leu421insTer	coding	Pathogenic
22	28695714	T	TA	G28695720A	CHEK2	NM_007194.4(CHEK2):c.1254dup:p.Ile419fs	coding	Pathogenic
22	28695720	GA	G	A28695722T	CHEK2	NM_007194.4(CHEK2):c.1248del:p.Leu417fs	coding	Pathogenic
22	28695722	A	AT	A28695724T	CHEK2	NM_007194.4(CHEK2):c.1246dup:p.Ile416fs	coding	Pathogenic
22	28695722	AT	A	T28695723A	CHEK2	NM_007194.4(CHEK2):c.1246del:p.Ile416fs	coding	Pathogenic
22	28695735	T	TCCAGCAGTCCACAGCACGGTTATAC	C28695771A	CHEK2	NM_007194.4(CHEK2):c.1209_1233dup:p.Ser412delinsValTer	coding	Pathogenic
22	28695739	GC	G	C28695740A	CHEK2	NM_007194.4(CHEK2):c.1229del:p.Cys410fs	coding	Pathogenic
22	28695763	AGCAGT	A	G28695764C	CHEK2	NM_007194.4(CHEK2):c.1201_1205del:p.Thr401fs	coding	Pathogenic/Likely_pathogenic
22	28695798	AG	A	G28695799T	CHEK2	NM_007194.4(CHEK2):c.1170del:p.Leu391fs	coding	Pathogenic
22	28695826	C	CT	A28695827T	CHEK2	NM_007194.4(CHEK2):c.1142_1143insA:p.Met381fs	coding	Pathogenic/Likely_pathogenic
22	28695841	TC	T	C28695844A	CHEK2	NM_007194.4(CHEK2):c.1127del:p.Gly376fs	coding	Pathogenic
22	28695844	CAA	C	A28695847T	CHEK2	NM_007194.4(CHEK2):c.1123_1124del:p.Leu375fs	coding	Pathogenic
22	28695852	TG	T	G28695854A	CHEK2	NM_007194.4(CHEK2):c.1116del:p.Lys373fs	coding	Pathogenic
22	28695860	C	CCAAAATCAGTA	A28695872C	CHEK2	NM_007194.4(CHEK2):c.1098_1108dup:p.Gly370fs	coding	Pathogenic
22	28696849	TTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAATAAACAACTCTTCACACAGCAGAAATGTAAGGTGTCAATTTCAATAAAAATTCAAATGGGTAACAGAAAATGTTTTGAGAACATACCAAATAAACACAAAAATTCCACCAAAATGATATATTTGGTTATTGCAGTCCTGAGAATATTTTTAAAGGGAACCTATACAAATATATATTTGTAAATATCTATTTATGTGATACAAATATATATCTGTTTATGTGAGTTAACCTATTCCTCAATGCAAAGACTTTGTCTTTGAAAAAACTATTGTCTGAAATAGCATATAAAAATGAACAAACACCAACATACTATGCCATATTTCTTTTCTTTTCTTTTCTCTTTTTTTTTTTTCTTGAAACAAGGTCTCACTCTGTCCCCCAGGCTGAAGTGCAGTGGCACCATCTTAGCTCACTACAGCCTCAACCTCCTCAGCTCAAGTGATCCTCCCACCTCAGCCTCATGAGTAGCTAGGACCATAGGCACAAAGCATGCCACTTCAACCAGCTAACTTCTTTATTTTTTTGTAGAGACGGGATCTCACAATGTTGCCCAAGCTGGTCTGGAACTCTTGGGCTAAAGTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACATGGTGAAACCCTATCTTTACTAAAAAAAAAAAAAAAAAAATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGTAGGCTGAGGCAGGAGAATCACTTGAACCCGAGGTGGAGGTTGTAGTGAGCCGAGATCGTGCCATTGGACTCCAGCCTGGGCGACACAGTGAGACATCATCTCAAAAAAAATAAACAAATAAAAATAAATTTAAAAGGCTTGTGTTTATGGGCTTCAATCTTCTCTGGATGTCCCTCTGGGTTAGAACAAAAATTTTTTGCAAAATCTTTACTGGGAAATGGATCTGGTGAAACCTCCAGGGAGGGCAAACCTAGGTAGATCAATCATAAAAAAATTTCTCTCGATCCTCACTCTGTACAAGGATTGCTCCCAATCACTGCATTTCCTGCAAGGAGTGGGTTTTCAAGAAGAGACTGGAAGGGAATGGCCACAACCACATTTGGTCTGGGAAATGGTGATGTTCCTCAAAGCAAGTGCCACCAGCTATTCTTTCATCTAACACCTACTGAATAGAGATGGCTATGTGCATTCCCTGCCGGCCCGCCCACTGCAGCGAACAGGATGCTGCACCTGAAGGGAAACACCTAGTTCTGAGCCATGGGGGACCAACCCATCTGTCACAATCATCACAACTTGCAGCTCTGCCCTCAAACCTGCCCAGCTCCCACTCTGAGTTAAGAGAGACTTCTACAAGGATCAAGCAGAACTAAAGAACTAATGATCAAGACCCCTCCAGAAATACCTCCAAGCTAAAGATAGGCGACATAGGGCCATGTTATCTCTTTTTTTAAAGACAGAGCATCATTCTGTTGCCTAGACTGGAGCGCAGTGGCATGACTGTGGCTCACTGTAGCCTCAACCTCCCAGGCTCAAGCCGTCCTCCCAACTCAGCCTCCAGAGTGGCTAAGACCACAGGTGCCCGCCACCATGCCTGGCTATTTTTATTTTTTGTAGAGATGGGGGTCCCATTATATTGCCCAGGCTGGTCTTAAACTCTTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTGCTGGGACTACAGGCGTGAGCCACTATGCCTGGTCTATTTATTTCTTTAATTCCCTTTCTTACTTTCTCTTAAGCTACACAGTGAGAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGCACAGTGGCATGATCTCAGCACACTGCAACCTCCACCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCAACACTACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCAGGATGGTTTTGATCTCTTGACCTCGTGATCCGCCCGCTTGGCCTCCCAAAATGCTGGGATTATGGGCATGAACCACCGCGCCTCGCCAGTGAGAGCTTTTTCATCTCAGTGAAAGGAGTAGGACATTTTTGCCAAGAAGAGAACAGCAAACACACAGATTCTCTTCTGAGTTTTAATCCACGGTCCCTCGATTTCTGCCTAATTCAGGGAGTAATTCAACTAAAAGAAAGGCAGCTGTCAAAAGAATTGAGGGCTTCTTTTACCTGCACAGCCAAGAGCATCTGGTAAAAATAGAGCTTGCAGGTAGCTTCTTTCAGGCGTTTATTCCCCACCACTTTGTCAAACAGCTCTCCCCCTTCCATCCTGAAACACAAAGGCAAGGCAAGGGGTTCATTCCTGGGGGAAAACGCAC	T	C28696851T	CHEK2	NM_007194.4(CHEK2):c.909-49_1095+51del	noncoding	Pathogenic
22	28696897	TTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTA	T	T28696898A	CHEK2	NM_007194.4(CHEK2):c.1009-100_1095+3del	noncoding	Pathogenic
22	28696901	C	CTT	A28696905T	CHEK2	NM_007194.4(CHEK2):c.1093_1094dup:p.Ile366fs	coding	Pathogenic
22	28696918	CT	C	T28696920C	CHEK2	NM_007194.4(CHEK2):c.1077del:p.Glu360fs	coding	Pathogenic
22	28696918	CTTCTTGAGATG	C	T28696919A	CHEK2	NM_007194.4(CHEK2):c.1067_1077del:p.Leu355_Ser356insTer	coding	Pathogenic
22	28696949	C	CT	A28696953T	CHEK2	NM_007194.4(CHEK2):c.1046dup:p.Pro350fs	coding	Pathogenic
22	28696949	CT	C	T28696952A	CHEK2	NM_007194.4(CHEK2):c.1046del:p.Lys349fs	coding	Pathogenic
22	28696959	C	CGGTGTATAATACCGTTTTCATGA	A28696983G	CHEK2	NM_007194.4(CHEK2):c.1014_1036dup:p.Arg346fs	coding	Pathogenic
22	28696965	AT	A	T28696966A	CHEK2	NM_007194.4(CHEK2):c.1030del:p.Ile344fs	coding	Pathogenic
22	28699839	TGCACAGCCAAG	T	G28699840A	CHEK2	NM_007194.4(CHEK2):c.996_1006del:p.Leu333fs	coding	Pathogenic
22	28699840	GCA	G	C28699843G	CHEK2	NM_007194.4(CHEK2):c.1004_1005del:p.Val335fs	coding	Pathogenic
22	28699876	AGG	A	G28699877T	CHEK2	NM_007194.4(CHEK2):c.968_969del:p.Thr323fs	coding	Pathogenic
22	28699892	GC	G	C28699893G	CHEK2	NM_007194.4(CHEK2):c.953del:p.Arg318fs	coding	Pathogenic
22	28699905	ACCACTTTGTCAAACAGCTCTCC	A	A28699908C	CHEK2	NM_007194.4(CHEK2):c.919_940del:p.Gly307fs	coding	Pathogenic
22	28699925	TCC	T	C28699929T	CHEK2	NM_007194.4(CHEK2):c.919_920del:p.Gly307fs	coding	Pathogenic
22	28703486	TA	T	A28703491G	CHEK2	NM_007194.4(CHEK2):c.908+18del	noncoding	Benign/Likely_benign
22	28703520	TA	T	A28703522T	CHEK2	NM_007194.4(CHEK2):c.892del:p.Tyr298fs	coding	Pathogenic
22	28703543	GTTTT	G	T28703545A	CHEK2	NM_007194.4(CHEK2):c.866_869del:p.Lys289fs	coding	Pathogenic
22	28703548	TA	T	A28703550T	CHEK2	NM_007194.4(CHEK2):c.864del:p.Asn290fs	coding	Pathogenic
22	28710003	TACATGATTTAGCTTTTTCAAAATTTCTATTTCTGTTTCAACATTGAGAGCTGGGTCCTTTGATAAACAGAATAACAGAGTTTATTAGTAATAATAATTGCCAATATTTAAAAAAACATTTACAGTTAAACTCAGTTGACTCAAGGCTGCCTGAGTTCCAAACCCAG	T	A28710004C	CHEK2	NM_007194.4(CHEK2):c.793-110_846+2del	noncoding	Pathogenic
22	28710015	CT	C	T28710020C	CHEK2	NM_007194.4(CHEK2):c.836del:p.Lys279fs	coding	Pathogenic/Likely_pathogenic
22	28711911	CCT	C	C28711916T	CHEK2	NM_007194.4(CHEK2):c.788_789del:p.Glu263fs	coding	Pathogenic
22	28711918	T	TGCTGAACCAATAGCAAACTTCCTTTTGCTGATGATCTTTATGGCTA	C28711965G	CHEK2	NM_007194.4(CHEK2):c.737_782dup:p.Arg262fs	coding	Pathogenic
22	28711921	TG	T	G28711922A	CHEK2	NM_007194.4(CHEK2):c.779del:p.Gly259_Ser260insTer	coding	Pathogenic
22	28711924	A	AC	A28711927C	CHEK2	NM_007194.4(CHEK2):c.776dup:p.Ser260fs	coding	Pathogenic
22	28711925	CCA	C	C28711926A	CHEK2	NM_007194.4(CHEK2):c.774_775del:p.Ile258fs	coding	Pathogenic
22	28711932	C	CA	C28711936A	CHEK2	NM_007194.4(CHEK2):c.768dup:p.Ala257fs	coding	Pathogenic
22	28711940	CT	C	T28711944G	CHEK2	NM_007194.4(CHEK2):c.760del:p.Arg254fs	coding	Pathogenic
22	28711950	TG	T	G28711951A	CHEK2	NM_007194.4(CHEK2):c.750del:p.Ile251fs	coding	Pathogenic
22	28711954	CT	C	T28711957A	CHEK2	NM_007194.4(CHEK2):c.746del:p.Lys249fs	coding	Pathogenic
22	28711957	T	TA	T28711959A	CHEK2	NM_007194.4(CHEK2):c.743dup:p.Ile250fs	coding	Pathogenic
22	28711971	T	TA	C28711973A	CHEK2	NM_007194.4(CHEK2):c.729dup:p.Lys244Ter	coding	Pathogenic
22	28711976	GT	G	T28711980C	CHEK2	NM_007194.4(CHEK2):c.724del:p.Thr242fs	coding	Pathogenic
22	28711982	CT	C	T28711983C	CHEK2	NM_007194.4(CHEK2):c.718del:p.Arg240fs	coding	Pathogenic
22	28712094	G	GTATTAGAATTTACAGACATTCCA	A28712121T	CHEK2	NM_007194.4(CHEK2):c.684-100_684-78dup	noncoding	Benign
22	28719401	AGAGTTTTTGACAT	A	G28719404T	CHEK2	NM_007194.4(CHEK2):c.664_676del:p.Met222fs	coding	Pathogenic
22	28719409	T	TGACATGATGTATTCATCTCTTAATGCCTTAGGATAAACTGACTGATCATCTACAGTCAA	G28719468A	CHEK2	NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC:p.Ser223_Lys224insTer	coding	Pathogenic
22	28719411	ACATGATGTATT	A	G28719415C	CHEK2	NM_007194.4(CHEK2):c.656_666del:p.Glu219fs	coding	Pathogenic
22	28719413	AT	A	T28719414G	CHEK2	NM_007194.4(CHEK2):c.664del:p.Met222fs	coding	Pathogenic
22	28719414	T	TGATGTATTCATCTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGAGAGCTCGGGGCACGCGCTGCCGTCCGGACCGCGGCTCCGCTCGCTGTGTAGCAGCCCTCGCACCGCCACTTCCTGCTCC	A28719431T	CHEK2	NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC:p.Met222fs	coding	Pathogenic
22	28719419	T	TA	T28719421A	CHEK2	NM_007194.4(CHEK2):c.658dup:p.Tyr220fs	coding	Pathogenic
22	28719433	TG	T	G28719434C	CHEK2	NM_007194.4(CHEK2):c.644del:p.Ala215fs	coding	Pathogenic
22	28724963	GATA	G	A28724970T	CHEK2	NM_007194.4(CHEK2):c.592+5TAT[2]	noncoding	Benign/Likely_benign
22	28724996	CAG	C	A28724997T	CHEK2	NM_007194.4(CHEK2):c.571_572del:p.Leu191fs	coding	Pathogenic
22	28724998	GT	G	T28724999G	CHEK2	NM_007194.4(CHEK2):c.570del:p.Leu191fs	coding	Pathogenic
22	28725011	AT	A	T28725013G	CHEK2	NM_007194.4(CHEK2):c.557del:p.Asn186fs	coding	Pathogenic
22	28725020	CAA	C	A28725022G	CHEK2	NM_007194.4(CHEK2):c.547_548del:p.Leu183fs	coding	Pathogenic
22	28725020	CA	C	A28725023G	CHEK2	NM_007194.4(CHEK2):c.548del:p.Pro182_Leu183insTer	coding	Pathogenic
22	28725023	A	AG	A28725026G	CHEK2	NM_007194.4(CHEK2):c.545dup:p.Leu183fs	coding	Pathogenic
22	28725064	AG	A	G28725066T	CHEK2	NM_007194.4(CHEK2):c.504del:p.Phe169fs	coding	Pathogenic
22	28725066	GT	G	T28725068C	CHEK2	NM_007194.4(CHEK2):c.502del:p.Thr168fs	coding	Pathogenic
22	28725073	T	TGCCACTGTGATCTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	A28725090T	CHEK2	NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC:p.Asn166fs	coding	Pathogenic
22	28725080	G	GTGATCTTCTATGTATGCAATGTAAGAGTT	T28725111G	CHEK2	NM_007194.4(CHEK2):c.460_488dup:p.His163delinsGlnThrLeuThrLeuHisThrTer	coding	Pathogenic
22	28725083	ATCTT	CCA	A28725083C	CHEK2	NM_007194.4(CHEK2):c.482_486delinsTGG:p.Glu161fs	coding	Pathogenic
22	28725097	CA	C	A28725099T	CHEK2	NM_007194.4(CHEK2):c.471del:p.Ile157fs	coding	Pathogenic
22	28725099	AT	A	T28725100G	CHEK2	NM_007194.4(CHEK2):c.469del:p.Ile157fs	coding	Pathogenic
22	28725107	GTTTTTAGGACCCAC	G	T28725110C	CHEK2	NM_007194.4(CHEK2):c.448_461del:p.Val150fs	coding	Pathogenic
22	28725114	GGACCCACTTCCTAAAATAGAGAACATTTTGTTTCAGACTTTGAATAGCAGAGATTTATAGTGGGAAAATATCTAAAAACAATGACCAAATTACCAGCTCTCCTAGATACATGGGTATTCATTACCTACCCTGAAAATCCGAAAGTGTTTCTTGCTGTATGTTCGGTATTTATCTGTTCTTTTCAGCAGTGGTTCATCAAAGCAATATTCACAGCTTTTGTCCCTCCCAAACCAGTAGTTGTCATTCACACATTCTGTAATATAAAAGCATGCATCAGAGGGCTGTTGAATTTCATGTATCAAACGTTTAAAAATTGCTCATAAATGCTAATTGTAGGAAAATAGCCTAAGAAGGCAATCAGAATTATCAATCTGCTTATCAAGATTTTACAAGATTAAAAATTAGGAGAGAAAAAACAACATTACCAATGAGTTTAACAAATGGCAGTTTATCTATAACCACATGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCCCTTTGGAAGGCTAAGGCAGGAGGATCACTTGACCCCAGGAGCTCATGACCAGCCTGGGCAACATAGGGGGCACCCATCTCTACCAAGAATTTAAAAATTAGTCTGGGCAACATGGTGAAACCCTATCTCTACAAAAAATAAAAAATCAGCAGGGTGTGGTGGTGGGTCCCTGTGGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTGAGACTGCGCCACTGCACACTAGCCTGGGCGACAGAGTGAGACCCAGTTTCAAAAAAAAAAAAATGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAATGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGTTACTCGGGAAGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACGACAAAGCAAGACTCTGTCTGAAAAAAAACAAAAAACAATTAACCAGATGTGGTGGTGCATGCCTGTAGTCCAGCTACTCAGGAGGCTGAAGGAGGAGGATCACTTGAGCAAGATAAGCTGATGCTACAATGGGCTGTGATCCTGCCACTGTACTCCAACCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAATAAATAAACAAATATTTAATATATATTATATATTTATTTTATATTTATTATATATAATATATATAATTTGTATTTATTATACATGTTATATAAATTTATTTTATAAGTTGTCTTAAATATAATTATATATTTATACACAATATAACATATATTATATATTTATAATATAGTAATTATATCTAAATATATAATAATATATAATATATATTATAATCTATTAATATATGTATTTATATACACAAACACACACATACACATACATATATATATAAAACCGTGAAATAACAAATAGTCATTAAAAGTTCTCGAGTAATTTTTAATGACTTGGAAAATTACTTGCAATACAGTAATTTCCTGCTTATTACCTTCCTGAGGTTTTCCATGACACTTAGCATAAAATCTGCACTCTTCCTCATGGCCTACTAGATGCTCAGGGTCTGGCGTCTGCCACCATTCCAGCCCCACCTCATACCCCTCTCCCCTTGCTCATGACACCCAGCACCACTGGCCTCCTTTCACTGCCCCCAAGAATGCTGGGTTCAATCTGCCTTGTGGTCTTAGCACTTCTTCCCCAACTACACAAATGGCTCATTCCACCTTGCCTTTTGTATAACAGATACTATCTACACAACACTATCTGCCTTTAGGACTCTACTATCATCTCCCACTCAGCTTTCTTTCTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTAATTTTAGTAGAGACGGGGTTTCGCCATGTTAGACAGGATGGTCTCGATCTCCTGAACTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGCGCCACCACACCCGGCCTCCCGCTCAGCTTGTTATATAAACATTACTCACCTGTTATCATAATGTTATCCTGTTTTATATCTTTTTGGGTATGGGCCACGGCTGGAAATTACCTTGCTTATTTGTATATTTTCTCCCCACCTCCCTGCATTAGAACATAACCTCCAGGAGGGCAGCTGGAGACCTCTTGTTTAACAGTACAACTCCAGCACTTGGGATATTGCACATGGCAGGTAATTAAATGTTCATTGCAAGGCAGACTAGGGAAAATACTAGCAACTCCTATCAGGAAAAGGAATAATTTCCCTAATAAATGTTAGGTTCCTATAAATCAGTGAAAACGCTAAACAGTCCAGTAGAAAAATAGGTAAAGGATATGAAAAGATAATTTACAAGAAACAGAAATACAGCTGGCTCAAACATATGAAAGGTGGCCAAGCTAACCCAATATAAGAAAATTCAGAAATCAAAAACACATTAAGATTTCATGTTTTACCTATTAGATTGGCAAAAATCCAAAAGTTTCATATCACCCTGTGCTGGCAAGAGGTATGAAAAAGCGGGTACTCTCATACATTGCCATTGGGAATATAATTTATACACACATTGTCTATAATTGTCTAGGGAGGACAATTTAGCAAGATCTATCAAAATTACATATGGGCTGGGCACGATGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGAAGGAGGATCACTTGAGCCTGAAGGTCGAGGCTGCACTAAGCTGTGGTTGCACCACTCACTCCAGAGTGAGAGTGAGACCCTATCTCTAGAAAGAAAAAGAAAATTAACAAATCCAAATTTAGTTAGTTAAAAAGATCAACAAGTTGGCAAACCTTAGACAGACTGAACAAGAAAAAAAGAGACAAGACTCAAATTACTAAAATTAGAATGAGAGAGATAATTACTACTGATCTGACAGAAATAAAAATGATTTAAAAAGAATAATTGAACAATTGTGTGACAGTATTAGATGACATAGGTGAAATGGACAAACTCCTAGAAAGATACAAACTACCAAAACTAACACAAGAAGAAACAGAAAATCTGAATATACCCATAAGAAGTGAAAAGACTGAATGATAATCCTAGCACATTGGGAGGCCAAGGCAGGCGGATTGCTTGACTTCAGGAGATTGAGACCAGCCTGTGCAACATGGCAAAATCCCGTCTCTACTAAAAACAAAACAAAAAAAAATTTAGCCAGGTGTGGTGGCGCGCCCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCACAAGAATCGTTTGAACCTGTGAGGCAGAGGCTGCAGTGAGCCAATATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCTGTCTCCAAAAAAACAAAACAAAACAAAAGACTGAATGAGTAATCAAAATATCCCTACAAAGAAAAGTGCAGTCCCAGATTGCCTCACTTTAGCTTGAGCAACATAGGGACACCCCATCTCTATCAAAATAAAAAAATTAGCCACACATGGTGGCACATGCCTGAGGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGTTGAGCCTGGGAGGTCAAGCCTGCAGTGAAACGTGATAGTGGGTAACACTCCAGCGTGGGTAAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAAGAAACACACGGCTGGCTTCATTTTAAATTCTATCAAATATGTAAAGAACTAATACCAATTATTCTCAAACTTTTCGAAGAAATTCGGAACGGAACACTGTCAACTCATCTATGAGGCCAGCATACCAAAACCAGACAGAGACATCACAGTAAAACCACAAACCAATATCCCTTGTGAATATAGATATAAAAATCCTCAACAAAACAGTAGCAAACTAAATCCAGCAACACATAAAAAAGATTACAAATGACCAAACAAGAATTAACCCAGGACGCCAGGCGCGGTGGCTCACATCTGTATTCCCAGCACTTTGGGAGGCCGAGGCGGGCGATCACGAGGTCAGGAGAT	G	A28725116G	CHEK2	NM_007194.4(CHEK2):c.320-3970_454del	coding	Pathogenic
22	28725258	GTG	T	G28725258T	CHEK2	NM_007194.4(CHEK2):c.427_429delinsA:p.His143fs	coding	Pathogenic
22	28725264	CTTGCTGTA	C	T28725266G	CHEK2	NM_007194.4(CHEK2):c.415_422del:p.Tyr139fs	coding	Pathogenic
22	28725283	TTATC	T	A28725285G	CHEK2	NM_007194.4(CHEK2):c.400_403del:p.Asp134fs	coding	Pathogenic
22	28725317	A	AAT	T28725322A	CHEK2	NM_007194.4(CHEK2):c.368_369dup:p.Cys124fs	coding	Pathogenic
22	28725325	CA	C	A28725326G	CHEK2	NM_007194.4(CHEK2):c.361del:p.Cys121fs	coding	Pathogenic
22	28725327	GC	G	C28725328T	CHEK2	NM_007194.4(CHEK2):c.359del:p.Ser120fs	coding	Pathogenic
22	28725333	GT	G	T28725334C	CHEK2	NM_007194.4(CHEK2):c.353del:p.Asp118fs	coding	Pathogenic
22	28725337	CT	C	T28725338C	CHEK2	NM_007194.4(CHEK2):c.349del:p.Arg117fs	coding	Pathogenic
22	28734359	G	GT	C28734365T	CHEK2	NM_007194.4(CHEK2):c.319+39dup	noncoding	Benign
22	28734406	GA	G	A28734407T	CHEK2	NM_007194.4(CHEK2):c.315del:p.Glu107fs	coding	Pathogenic
22	28734441	GC	G	C28734444A	CHEK2	NM_007194.4(CHEK2):c.280del:p.Ala94fs	coding	Pathogenic
22	28734443	CCAGGGGG	C	G28734450T	CHEK2	NM_007194.4(CHEK2):c.272_278del:p.Ala91fs	coding	Pathogenic
22	28734487	CT	C	T28734489G	CHEK2	NM_007194.4(CHEK2):c.234del:p.Glu79fs	coding	Pathogenic
22	28734487	CTT	C	T28734488G	CHEK2	NM_007194.4(CHEK2):c.233_234del:p.Gln78fs	coding	Pathogenic
22	28734499	GA	G	A28734501T	CHEK2	NM_007194.4(CHEK2):c.222del:p.Pro75fs	coding	Pathogenic
22	28734533	TA	T	A28734535G	CHEK2	NM_007194.4(CHEK2):c.188del:p.Ser62_Leu63insTer	coding	Pathogenic
22	28734555	CTGGAGTGAGAG	C	T28734556G	CHEK2	NM_007194.4(CHEK2):c.156_166del:p.Ser53fs	coding	Pathogenic
22	28734620	CTG	C	T28734623A	CHEK2	NM_007194.4(CHEK2):c.100_101del:p.Gln34fs	coding	Pathogenic
22	28734627	GA	G	A28734628G	CHEK2	NM_007194.4(CHEK2):c.94del:p.Ser32fs	coding	Pathogenic
22	28734680	GC	G	C28734682A	CHEK2	NM_007194.4(CHEK2):c.41del:p.Gly14fs	coding	Pathogenic
22	28734686	AGACT	A	A28734688C	CHEK2	NM_007194.4(CHEK2):c.32_35del:p.Gln11fs	coding	Pathogenic
22	28734688	AC	A	C28734689T	CHEK2	NM_007194.4(CHEK2):c.33del:p.Gln11fs	coding	Pathogenic
22	28734705	TC	T	C28734707G	CHEK2	NM_007194.4(CHEK2):c.16del:p.Asp6fs	coding	Pathogenic
22	28734711	TCCCGA	T	C28734712G	CHEK2	NM_007194.4(CHEK2):c.6_10del:p.Arg3fs	coding	Pathogenic
22	28734825	GA	G	A28734838C	CHEK2	NM_007194.4(CHEK2):c.-6-99del	noncoding	Benign
22	28734825	G	GA	C28734839A	CHEK2	NM_007194.4(CHEK2):c.-6-111dup	noncoding	Benign
22	28741706	CA	C	A28741710C	CHEK2	NM_007194.4(CHEK2):c.-7+62del	noncoding	Benign
22	28743903	T	TA	C28743905A	HSCB	NM_172002.5(HSCB):c.259dup:p.Thr87fs	coding	Pathogenic
22	29049830	ACAG	A	A29049847T	ZNRF3	NM_001206998.2(ZNRF3):c.1651AGC[5]:p.Ser557del	coding	Pathogenic
22	29292762	CTT	C	T29292780G	EWSR1	NM_005243.4(EWSR1):c.1164+174_1164+175del	noncoding	Benign
22	29367338	G	GGGA	A29367346G	AP1B1	NM_001127.4(AP1B1):c.-27-74TCC[3]	noncoding	Benign
22	29483276	CA	C	A29483291G	NEFH	NM_021076.4(NEFH):c.884-84del	noncoding	Benign
22	29483276	C	CA	G29483292A	NEFH	NM_021076.4(NEFH):c.884-84dup	noncoding	Benign
22	29483768	GAA	G	A29483787G	NEFH	NM_021076.4(NEFH):c.1083+213_1083+214del	noncoding	Benign
22	29483768	GA	G	A29483788G	NEFH	NM_021076.4(NEFH):c.1083+214del	noncoding	Benign
22	29483768	G	GA	G29483789A	NEFH	NM_021076.4(NEFH):c.1083+214dup	noncoding	Benign
22	29489591	AAGGCCAAGTCCCCAGAGAAGGAAG	A	A29489605T	NEFH	NM_021076.4(NEFH):c.1965_1988del:p.Glu658_Lys665del	coding	Benign/Likely_benign
22	29489872	T	TCCCCAGTGAAGGAAGAAGCC	A29489873C	NEFH	NM_021076.4(NEFH):c.2232_2233insCCCCAGTGAAGGAAGAAGCC:p.Lys745delinsProGlnTer	coding	Benign
22	29603354	C	CT	G29603362T	NF2	Single_allele	noncoding	Benign
22	29603354	CT	C	T29603361G	NF2	Single_allele	noncoding	Benign
22	29604446	G	GT	A29604448T	NF2	NM_000268.4(NF2):c.114+335dup	noncoding	Benign
22	29636861	CA	C	A29636865T	NF2	NM_000268.4(NF2):c.229del:p.Met77fs	coding	Pathogenic
22	29639149	TTA	T	A29639151C	NF2	NM_000268.4(NF2):c.302_303del:p.Tyr101fs	coding	Pathogenic
22	29639166	AAG	A	A29639169G	NF2	NM_000268.4(NF2):c.320_321del:p.Glu107fs	coding	Pathogenic
22	29642211	CAG	C	G29642213T	NF2	NM_000268.4(NF2):c.375_376del:p.Gln125fs	coding	Pathogenic
22	29642269	AC	A	C29642270G	NF2	NM_000268.4(NF2):c.432del:p.Ser143_Tyr144insTer	coding	Pathogenic
22	29654659	TG	T	G29654661T	NF2	NM_000268.4(NF2):c.452del:p.Gly151fs	coding	Pathogenic
22	29654665	C	CT	A29654667T	NF2	NM_000268.4(NF2):c.457dup:p.Tyr153fs	coding	Pathogenic
22	29654670	A	AC	A29654675C	NF2	NM_000268.4(NF2):c.465dup:p.Ser156fs	coding	Pathogenic
22	29654677	T	TGTTCACAAGC	G29654689T	NF2	NM_000268.4(NF2):c.470_479dup:p.Gly161fs	coding	Pathogenic
22	29658235	A	ATG	A29658239G	NF2	NM_000268.4(NF2):c.648_649dup:p.Tyr217fs	coding	Pathogenic
22	29661295	TTCCCGTGGAATGAAA	T	C29661299G	NF2	NM_000268.4(NF2):c.770_784del:p.Pro257_Ile261del	coding	Pathogenic
22	29665053	GT	G	T29665055A	NF2	NM_000268.4(NF2):c.876del:p.Asn293fs	coding	Pathogenic
22	29665236	GT	G	T29665247G	NF2	NM_000268.4(NF2):c.885+183del	noncoding	Benign
22	29668084	A	AGT	C29668089G	NF2	NM_000268.4(NF2):c.886-248GT[3]	noncoding	Benign
22	29671847	CG	C	G29671848A	NF2	NM_000268.4(NF2):c.1022del:p.Arg341fs	coding	Pathogenic
22	29671851	AGAAGCAGATGAGGGAGGAGGCT	A	G29671855C	NF2	NM_000268.4(NF2):c.1029_1050del:p.Lys343fs	coding	Pathogenic
22	29671876	AC	A	C29671877G	NF2	NM_000268.4(NF2):c.1051del:p.Arg351fs	coding	Pathogenic
22	29671898	AG	A	G29671900A	NF2	NM_000268.4(NF2):c.1074del:p.Arg359fs	coding	Pathogenic
22	29674890	GC	AT	G29674890A	NF2	NM_000268.4(NF2):c.1395_1396delinsAT:p.Arg466Ter	coding	Pathogenic
22	29674949	TG	T	G29674954C	NF2	NM_000268.4(NF2):c.1446+13del	noncoding	Benign
22	29677970	T	TTGAGGGA	T29677981G	NF2	NM_000268.4(NF2):c.1447-222_1447-216dup	noncoding	Benign
22	29678210	TC	T	C29678212A	NF2	NM_000268.4(NF2):c.1463del:p.Pro488fs	coding	Pathogenic
22	29678238	AG	A	G29678239C	NF2	NM_000268.4(NF2):c.1490del:p.Ser497fs	coding	Pathogenic
22	29678255	TG	T	G29678256A	NF2	NM_000268.4(NF2):c.1507del:p.Asp503fs	coding	Pathogenic
22	29681476	C	CA	G29681478A	NF2	NM_000268.4(NF2):c.1613dup:p.Leu539fs	coding	Pathogenic
22	29681490	CAA	C	A29681491G	NF2	NM_000268.4(NF2):c.1627_1628del:p.Lys543fs	coding	Pathogenic
22	30610976	GC	G	C30610978T	TCN2	NM_000355.4(TCN2):c.172del:p.Leu58fs	coding	Pathogenic
22	30614332	G	GT	C30614340T	TCN2	NM_000355.4(TCN2):c.428-10dup	noncoding	Benign
22	30615287	T	TC	A30615293C	TCN2	NM_000355.4(TCN2):c.581-9dup	noncoding	Benign
22	30615517	CAG	C	A30615518G	TCN2	NM_000355.4(TCN2):c.753+45_753+46del	noncoding	Benign
22	30615726	GC	G	C30615729G	TCN2	NM_000355.4(TCN2):c.882del:p.Val295fs	coding	Pathogenic
22	30616025	TTGGA	T	G30616072A	TCN2	NM_000355.4(TCN2):c.940+239TGGA[11]	noncoding	Benign
22	30616025	TTGGATGGATGGA	T	G30616064A	TCN2	NM_000355.4(TCN2):c.940+239TGGA[9]	noncoding	Benign
22	30616025	TTGGATGGATGGATGGATGGATGGATGGA	T	G30616048A	TCN2	NM_000355.4(TCN2):c.940+239TGGA[5]	noncoding	Benign
22	30616090	TTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCTCAGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACTATGTCTCAAAAAAAAAAAAAAAAAATGGAGAAGAAGGAAGCTGGACATGGTGGCTCGTGCTTATAATCCTAGCACTCTGGGAAGCTGAGGCAGATGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAATACGAAAGATTAGCCAGGCATGGTGGTAGACACCTATAATCCCAGCTACTAGGGAGGCTGAGCCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTTCAGCCTGGGCGACAGTGTGAGACTCTGTCTCCAGAAAAAACAAGAATGGATAGAGTGGAGCCAAGAAGAGGCAGGAAGAACAAAGACACAGAGGTGCACAGAGTTTGGGGGAATTTTGAGGAATGGTCTTGCAAAAGAGTGGGATCTGGGAGAATGAGTGGGAGTGGAAAGCAGATGAATGAAGAGAAGGTGAGCGCATCAGGGTAACAGAGATGCGTTGTGAACAAATGCATGTTCTAGGAAGAGCCCTCTGGAGTGCTAGGTGCCAGAGAGGTGGGAGGAAGGATACTGGAAGCAGAGAAACCAGTGAGGGGCCTGATCTTGGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTTTCAGCTGAGCAGGTGGCGGTGGCATTGATGGAGATGAGGACATGGGGAAGGACAAAGTCCAGGTGTCCTTGAGGGAAGACAAGAAGACAAATAATCCAGGCTCTCTGTCCTCACACCAGCTGCCCGCCCCTTTCTTCCTGGCACAGTCATGTTGGAACCAGCTGCTGAGACCATTCCTCAGACCCAAGAGATCATCAGTGTCACGCTGCAGGTGCTTAGTCTCTTGCCGCCGTACAGACAGTCCATCTCTGTTCTGGCCGGGTCCACCGTGGAAGATGTCCTGAAGAAGGCCCATGAGTTAGGAGGATTCACGTGAGACTCCCACCTCCCAGTCCTCACCCCACCCAACCTCACATGCCTGATAACAGGGTCACAGAAGAGACGGGGAACAGAGGAGAGGGTTCCCTCGGGAGAGACACTGGCCCTGCTTCTGCTTCTACCTGCTCAGCTCCTTTCTTGCCCACGGTGTTATGGAAACAGGGAGCCATAGGCCAGCATTGTCACTGAGAGAGCAGGCTTTGGAGGCAGAGCCCCCCAGTTGGAATCCCAACTCTAACCAGCTAGGTTCCAGGTAGGCACCCACAATTCACCGAGGAGAACAGTTGTGCCCCTTCCCTGCAGGGCCAGTGTGAAGAGTCCAGGAGTTAGTACACATAGAGATAGTGGCATGTGCTTTTTATATGTGCAAGGTCCAGCACATAGCAAGCGCTCAACACAGCGTTGCTTTCATCAGAGTAAGAACTGTTTTTTGTTTGTTTGTTTGTTTGTTTTTAAGAGACAGGGTCTCAATCTTATCACCCAGGCTGGAGTGTAATTGTGCAATCACGTCTCACTGCAGTCTCGAACTCTGGGGATGAAGCAACCCTACTGTCCTGCCTCAGCCTCCCAAATAGCTGAGACTATAGGCACGTGCCACACAACCCTGGGTAATTTTTTTTTTTTTTTTTTTTGAGATAGGGTCTCTGTCTGTTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAACCATCCTCACACCTGAGGCGCTCAAAATATTGGGATTATAGGTGCGAGCCATCAT	CTGG	T30616090C	TCN2	NM_000355.4(TCN2):c.940+303_1106+746delinsCTGG	noncoding	Pathogenic
22	30617385	C	CA	C30617387A	TCN2	NM_000355.4(TCN2):c.997dup:p.Thr333fs	coding	Pathogenic
22	30623247	G	GC	A30623248C	TCN2	NM_000355.4(TCN2):c.1222+164_1222+165insC	noncoding	Benign
22	30623248	A	AC	A30623249C	TCN2	NM_000355.4(TCN2):c.1222+165_1222+166insC	noncoding	Benign
22	30623296	CA	C	A30623311C	TCN2	NM_000355.4(TCN2):c.1222+228del	noncoding	Benign
22	30935163	TA	T	A30935170G	MORC2	NM_001303256.3(MORC2):c.1813-3del	noncoding	Benign
22	30940293	TA	T	A30940309C	MORC2	NM_001303256.3(MORC2):c.905-253del	noncoding	Benign
22	30949455	TACAGGGTAAAAATAAGA	T	C30949457T	MORC2	NM_001303256.3(MORC2):c.317+280_317+296del	noncoding	Benign
22	30950456	AG	A	G30950457C	MORC2	NM_001303256.3(MORC2):c.158-12del	noncoding	Benign
22	31760663	CT	C	T31760667G	DEPDC5	NM_001242896.3(DEPDC5):c.158del:p.Leu53fs	coding	Pathogenic
22	31760683	T	TA	G31760686A	DEPDC5	NM_001242896.3(DEPDC5):c.176dup:p.Glu60fs	coding	Pathogenic
22	31760685	AG	A	G31760687A	DEPDC5	NM_001242896.3(DEPDC5):c.178del:p.Glu60fs	coding	Pathogenic
22	31764988	GGA	G	G31764989C	DEPDC5	NM_001242896.3(DEPDC5):c.208_209del:p.Asp70fs	coding	Pathogenic
22	31764992	C	CA	G31764994A	DEPDC5	NM_001242896.3(DEPDC5):c.212dup:p.Thr72fs	coding	Pathogenic
22	31764996	CTG	C	T31764999A	DEPDC5	NM_001242896.3(DEPDC5):c.218_219del:p.Val73fs	coding	Pathogenic/Likely_pathogenic
22	31766608	A	AT	A31766611T	DEPDC5	NM_001242896.3(DEPDC5):c.305dup:p.Leu102fs	coding	Pathogenic
22	31766630	AT	A	T31766632G	DEPDC5	NM_001242896.3(DEPDC5):c.327del:p.Ile109fs	coding	Pathogenic
22	31766673	GAT	G	A31766674G	DEPDC5	NM_001242896.3(DEPDC5):c.363+6_363+7del	noncoding	Benign/Likely_benign
22	31766679	A	AT	G31766688T	DEPDC5	NM_001242896.3(DEPDC5):c.363+19dup	noncoding	Benign
22	31766679	AT	A	T31766687G	DEPDC5	NM_001242896.3(DEPDC5):c.363+19del	noncoding	Benign
22	31784620	CA	C	A31784636G	DEPDC5	NM_001242896.3(DEPDC5):c.563-178del	noncoding	Benign
22	31784887	CTT	C	T31784888A	DEPDC5	NM_001242896.3(DEPDC5):c.624+13_624+14del	noncoding	Benign
22	31792082	TC	T	C31792083T	DEPDC5	NM_001242896.3(DEPDC5):c.675del:p.Tyr226fs	coding	Pathogenic
22	31793069	A	AAAAT	C31793101T	DEPDC5	NM_001242896.3(DEPDC5):c.767+253AAAT[8]	noncoding	Benign
22	31797692	TG	T	G31797694A	DEPDC5	NM_001242896.3(DEPDC5):c.862del:p.Glu288fs	coding	Pathogenic
22	31798612	CA	C	A31798613G	DEPDC5	NM_001242896.3(DEPDC5):c.903del:p.Ala302fs	coding	Pathogenic
22	31804152	C	CT	A31804160T	DEPDC5	NM_001242896.3(DEPDC5):c.1082-3dup	noncoding	Benign
22	31804217	GT	G	T31804219C	DEPDC5	NM_001242896.3(DEPDC5):c.1139del:p.Phe380fs	coding	Pathogenic
22	31804890	AATAT	A	A31804891C	DEPDC5	NM_001242896.3(DEPDC5):c.1193_1196del:p.Asn398fs	coding	Pathogenic
22	31806103	CTGTT	C	G31806109C	DEPDC5	NM_001242896.3(DEPDC5):c.1218-13_1218-10del	noncoding	Benign
22	31806113	CT	C	T31806117A	DEPDC5	NM_001242896.3(DEPDC5):c.1218-5del	noncoding	Benign
22	31810596	TC	T	C31810597A	DEPDC5	NM_001242896.3(DEPDC5):c.1401del:p.Phe467fs	coding	Pathogenic
22	31819089	CAGTGCAGA	C	G31819091T	DEPDC5	NM_001242896.3(DEPDC5):c.1736_1743del:p.Ser579fs	coding	Pathogenic
22	31819151	AC	A	C31819155T	DEPDC5	NM_001242896.3(DEPDC5):c.1800del:p.Phe601fs	coding	Pathogenic
22	31822779	A	AC	A31822781C	DEPDC5	NM_001242896.3(DEPDC5):c.2094dup:p.Ser699fs	coding	Pathogenic
22	31836956	C	CT	G31836958T	DEPDC5	NM_001242896.3(DEPDC5):c.2171-15dup	noncoding	Benign
22	31836996	T	TA	G31836998A	DEPDC5	NM_001242896.3(DEPDC5):c.2196dup:p.Val733fs	coding	Pathogenic
22	31837074	ACTACTTC	A	T31837076C	DEPDC5	NM_001242896.3(DEPDC5):c.2275_2281del:p.Tyr759fs	coding	Pathogenic
22	31837104	A	ATG	A31837107T	DEPDC5	NM_001242896.3(DEPDC5):c.2304_2305dup:p.Asp769fs	coding	Pathogenic
22	31838816	CGCTGAGCAGTAGCCCACTCTATA	C	T31838819C	DEPDC5	NM_001242896.3(DEPDC5):c.2489_2511del:p.Leu830fs	coding	Pathogenic
22	31838818	CT	C	T31838819G	DEPDC5	NM_001242896.3(DEPDC5):c.2489del:p.Leu830fs	coding	Pathogenic
22	31843125	A	AG	A31843128G	DEPDC5	NM_001242896.3(DEPDC5):c.2548dup:p.Asp850fs	coding	Pathogenic
22	31843207	T	TC	A31843211C	DEPDC5	NM_001242896.3(DEPDC5):c.2631dup:p.Lys878fs	coding	Pathogenic
22	31843750	G	GGA	G31843754A	DEPDC5	NM_001242896.3(DEPDC5):c.2741_2742dup:p.Glu915fs	coding	Pathogenic
22	31843775	GATCAGTAT	G	A31843779T	DEPDC5	NM_001242896.3(DEPDC5):c.2768_2775del:p.Gln923fs	coding	Pathogenic
22	31843912	CT	C	T31843923C	DEPDC5	NM_001242896.3(DEPDC5):c.2801+111del	noncoding	Benign
22	31845098	A	AG	A31845104G	DEPDC5	NM_001242896.3(DEPDC5):c.2887dup:p.Glu963fs	coding	Pathogenic
22	31845159	A	ACTCCTGGATGGTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC	G31845175T	DEPDC5	NM_001242896.3(DEPDC5):c.2958_2959insTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATGGTTTT:p.Val987delinsPhePhePhePhePheXaaXaaXaaXaaPhePhePhePhePhePhePhePhePheTer	coding	Pathogenic
22	31845204	TC	T	C31845205G	DEPDC5	NM_001242896.3(DEPDC5):c.2989del:p.Arg997fs	coding	Pathogenic
22	31847034	TC	T	C31847037T	DEPDC5	NM_001242896.3(DEPDC5):c.3155+70del	noncoding	Benign
22	31857478	TGGGAA	T	G31857480A	DEPDC5	NM_001242896.3(DEPDC5):c.3191_3195del:p.Gly1064fs	coding	Pathogenic
22	31870707	GAA	G	A31870708C	DEPDC5	NM_001242896.3(DEPDC5):c.3449_3450del:p.Glu1150fs	coding	Pathogenic
22	31874286	CT	C	T31874287G	DEPDC5	NM_001242896.3(DEPDC5):c.3578del:p.Leu1193fs	coding	Pathogenic
22	31876176	T	TC	A31876178C	DEPDC5	NM_001242896.3(DEPDC5):c.3717dup:p.Ile1240fs	coding	Pathogenic
22	31876182	C	CA	C31876184A	DEPDC5	NM_001242896.3(DEPDC5):c.3723dup:p.His1242fs	coding	Pathogenic
22	31897518	T	TTC	T31897522C	DEPDC5	NM_001242896.3(DEPDC5):c.4242_4243dup:p.Leu1415fs	coding	Pathogenic
22	31897561	GTTAC	G	T31897562C	DEPDC5	NM_001242896.3(DEPDC5):c.4284_4287del:p.Tyr1429fs	coding	Pathogenic
22	31897567	TG	T	G31897568T	DEPDC5	NM_001242896.3(DEPDC5):c.4290del:p.Tyr1431fs	coding	Pathogenic
22	31897634	C	CA	G31897636A	DEPDC5	NM_001242896.3(DEPDC5):c.4357dup:p.Ser1453fs	coding	Pathogenic
22	31906312	CG	C	G31906315T	DEPDC5	NM_001242896.3(DEPDC5):c.4630del:p.Val1544fs	coding	Pathogenic
22	31906355	CAT	C	A31906356G	DEPDC5	NM_001242896.3(DEPDC5):c.4671_4672del:p.Trp1558fs	coding	Pathogenic
22	31906394	A	GGTTT	A31906394G	DEPDC5	NM_001242896.3(DEPDC5):c.4709delinsGGTTT:p.Asp1570fs	coding	Pathogenic
22	32067355	T	TTA	T32067357A	SLC5A1	NM_000343.4(SLC5A1):c.312+317_312+318insAT	noncoding	Benign
22	32067362	TAA	T	A32067368T	SLC5A1	NM_000343.4(SLC5A1):c.312+329_312+330del	noncoding	Benign
22	32082985	A	AG	A32082987G	SLC5A1	NM_000343.4(SLC5A1):c.584-88dup	noncoding	Benign
22	32091599	CCTT	C	T32091602C	SLC5A1	NM_000343.4(SLC5A1):c.1130-10_1130-8del	noncoding	Benign
22	32099296	C	CT	A32099297T	SLC5A1	NM_000343.4(SLC5A1):c.1394_1395insT:p.Pro466fs	coding	Pathogenic
22	32479401	C	CT	G32479417T	FBXO7	NM_012179.4(FBXO7):c.417+141dup	noncoding	Benign
22	32479401	CT	C	T32479416G	FBXO7	NM_012179.4(FBXO7):c.417+141del	noncoding	Benign
22	32495368	G	GT	A32495384T	FBXO7	NM_012179.4(FBXO7):c.1145-110dup	noncoding	Benign
22	32495368	GT	G	T32495383A	FBXO7	NM_012179.4(FBXO7):c.1145-110del	noncoding	Benign
22	32495381	T	TTC	T32495383C	FBXO7	NM_012179.4(FBXO7):c.1145-111_1145-110insCT	noncoding	Benign
22	33277133	C	CA	G33277135A	LARGE1	NM_133642.5(LARGE1):c.1999dup:p.Cys667fs	coding	Pathogenic
22	33283267	CA	C	A33283268G	LARGE1	NM_133642.5(LARGE1):c.1811del:p.Leu604fs	coding	Pathogenic
22	33337723	AG	A	G33337725T	LARGE1	NM_133642.5(LARGE1):c.1209del:p.Phe404fs	coding	Pathogenic
22	33384358	GCTAGGCACAC	G	G33384362C	LARGE1	NM_133642.5(LARGE1):c.893-64_893-55del	noncoding	Benign
22	33432181	AG	A	G33432184C	LARGE1	NM_133642.5(LARGE1):c.871del:p.Gly292fs	coding	Pathogenic
22	33432562	A	ATCAT	G33432599T	LARGE1	NM_133642.5(LARGE1):c.788-333ATGA[10]	noncoding	Benign
22	33432562	ATCAT	A	T33432595G	LARGE1	NM_133642.5(LARGE1):c.788-333ATGA[8]	noncoding	Benign
22	33432595	T	TCATTCACG	G33432599T	LARGE1	NM_133642.5(LARGE1):c.788-331_788-330insATGCGTGA	noncoding	Benign
22	33432595	T	TCATTCATG	G33432599T	LARGE1	NM_133642.5(LARGE1):c.788-331_788-330insATGCATGA	noncoding	Benign
22	33432595	T	TCATTCATTCATG	G33432599T	LARGE1	NM_133642.5(LARGE1):c.788-331_788-330insATGCATGAATGA	noncoding	Benign
22	33565013	CTT	C	T33565014C	LARGE1	NM_133642.5(LARGE1):c.620_621del:p.Glu207fs	coding	Pathogenic
22	33761749	TAAC	T	C33761752A	LARGE1	NM_133642.5(LARGE1):c.-82-194_-82-192del	noncoding	Benign
22	35381208	G	GCGCGGGA	G35381225C	HMOX1	NM_002133.3(HMOX1):c.23+13CGCGGGA[3]	noncoding	Benign
22	35386859	TAC	T	A35386864C	HMOX1	NM_002133.3(HMOX1):c.324_325del:p.Pro109fs	coding	Pathogenic
22	35809759	TTCACC	T	C35809763T	RBFOX2	NM_001349999.2(RBFOX2):c.462+16_462+20del	noncoding	Benign
22	36282728	AT	A	T36282729C	MYH9	NM_002473.6(MYH9):c.5822del:p.Asp1941fs	coding	Pathogenic
22	36282777	TC	T	C36282781G	MYH9	NM_002473.6(MYH9):c.5773del:p.Asp1925fs	coding	Pathogenic
22	36291683	TA	T	A36291706G	MYH9	NM_002473.6(MYH9):c.4344+302del	noncoding	Benign
22	36291683	T	TA	G36291707A	MYH9	NM_002473.6(MYH9):c.4344+280dup	noncoding	Benign
22	36295401	G	GGT	C36295423T	MYH9	NM_002473.6(MYH9):c.3485+84AC[11]	noncoding	Benign
22	36296540	CT	C	T36296564A	MYH9	NM_002473.6(MYH9):c.3272+302del	noncoding	Benign
22	36296540	CTT	C	T36296563A	MYH9	NM_002473.6(MYH9):c.3272+301_3272+302del	noncoding	Benign
22	36299255	A	AT	G36299257T	MYH9	NM_002473.6(MYH9):c.2977-214dup	noncoding	Benign
22	36301656	G	GCGGCTTGA	C36301666G	MYH9	NM_002473.6(MYH9):c.2501_2508dup:p.Leu837fs	coding	Pathogenic
22	36303784	CAA	C	A36303802G	MYH9	NM_002473.6(MYH9):c.2390+209_2390+210del	noncoding	Benign
22	36303784	C	CA	G36303804A	MYH9	NM_002473.6(MYH9):c.2390+192dup	noncoding	Benign
22	36309095	A	AG	C36309099G	MYH9	NM_002473.6(MYH9):c.1843+184dup	noncoding	Benign
22	36312355	C	CA	G36312359A	MYH9	NM_002473.6(MYH9):c.1555-136dup	noncoding	Benign
22	36316355	GA	G	A36316368C	MYH9	NM_002473.6(MYH9):c.1380+161del	noncoding	Benign
22	36319826	AC	A	C36319831T	MYH9	NM_002473.6(MYH9):c.1013-192del	noncoding	Benign
22	36320157	C	CT	G36320158T	MYH9	NM_002473.6(MYH9):c.1012+62_1012+63insA	noncoding	Benign
22	36326793	CG	C	G36326796A	MYH9	NM_002473.6(MYH9):c.519-133del	noncoding	Benign
22	36348841	GC	G	C36348853A	MYH9	NM_002473.6(MYH9):c.333+62del	noncoding	Benign
22	36348991	CTTGGAGAACTTGGGCGGG	C	G36348994C	MYH9	NM_002473.6(MYH9):c.228_245del:p.Asn76_Ser81del	coding	Pathogenic
22	36467627	CCT	C	C36467630G	TXN2	NM_012473.4(TXN2):c.*173AG[1]	noncoding	Benign
22	36481648	G	GGA	A36481649G	TXN2	Single_allele	noncoding	Benign
22	36864180	GCTGACCTCTGAACCTTGCCCT	G	T36864196C	NCF4	NM_000631.5(NCF4):c.117+67_117+87del	noncoding	Benign
22	36867110	C	CGT	C36867144T	NCF4	NM_000631.5(NCF4):c.272-281GT[17]	noncoding	Benign
22	36867110	C	CGTGT	C36867144T	NCF4	NM_000631.5(NCF4):c.272-281GT[18]	noncoding	Benign
22	36867110	C	CGTGTGT	C36867144T	NCF4	NM_000631.5(NCF4):c.272-281GT[19]	noncoding	Benign
22	36867110	C	CGTGTGTGT	C36867144T	NCF4	NM_000631.5(NCF4):c.272-281GT[20]	noncoding	Benign
22	36867110	C	CGTGTGTGTGT	C36867144T	NCF4	NM_000631.5(NCF4):c.272-281GT[21]	noncoding	Benign
22	36867142	T	TGTGTGTGTGC	C36867144T	NCF4	NM_000631.5(NCF4):c.272-249_272-248insTGTGTGTGCG	noncoding	Benign
22	36872623	TTGGAGGTGAGGGTGGAGGTAAGAGTGGAGATGAGATTGGAGGTGAGGA	T	G36872634A	NCF4	NM_000631.5(NCF4):c.627+209_627+256del	noncoding	Benign
22	36929717	GC	G	C36929720G	CSF2RB	NM_000395.3(CSF2RB):c.631del:p.Arg211fs	coding	Pathogenic
22	36935961	AG	A	G36935966T	CSF2RB	NM_000395.3(CSF2RB):c.1464+279del	noncoding	Benign
22	37051617	G	GGGGGCGGGAGCAGCGC	C37051643G	KCTD17	Single_allele	noncoding	Benign
22	37075000	TAC	T	A37075015T	TMPRSS6	NM_001374504.1(TMPRSS6):c.1342+119GT[7]	noncoding	Benign
22	37095629	CA	C	A37095644G	TMPRSS6	NM_001374504.1(TMPRSS6):c.590-38del	noncoding	Benign
22	37096024	CA	C	A37096025G	TMPRSS6	NM_001374504.1(TMPRSS6):c.470del:p.Leu157fs	coding	Pathogenic
22	37232013	A	AG	T37232016G	RAC2	NM_002872.5(RAC2):c.226-21dup	noncoding	Benign
22	37701198	T	TAA	C37701201A	TRIOBP	NM_001039141.3(TRIOBP):c.-60-107_-60-106dup	noncoding	Benign
22	37710736	G	GC	A37710740C	TRIOBP	NM_001039141.3(TRIOBP):c.254+173dup	noncoding	Benign
22	37712957	A	AAAAT	T37713000A	TRIOBP	NM_001039141.3(TRIOBP):c.255-252AAAT[11]	noncoding	Benign
22	37712957	AAAAT	A	A37712996T	TRIOBP	NM_001039141.3(TRIOBP):c.255-252AAAT[9]	noncoding	Benign
22	37712957	AAAATAAAT	A	A37712992T	TRIOBP	NM_001039141.3(TRIOBP):c.255-252AAAT[8]	noncoding	Benign
22	37724168	GCCT	G	C37724173T	TRIOBP	NM_001039141.3(TRIOBP):c.1614CTC[1]:p.Ser540del	coding	Benign
22	37725764	G	GC	G37725771C	TRIOBP	NM_001039141.3(TRIOBP):c.3214dup:p.Arg1072fs	coding	Pathogenic
22	37725781	G	GC	G37725789C	TRIOBP	NM_001039141.3(TRIOBP):c.3232dup:p.Arg1078fs	coding	Pathogenic
22	37726225	ACC	A	C37726228G	TRIOBP	NM_001039141.3(TRIOBP):c.3672_3673del:p.Arg1225fs	coding	Pathogenic
22	37733666	C	CT	G37733689T	TRIOBP	NM_001039141.3(TRIOBP):c.4062+276dup	noncoding	Benign
22	37733666	CT	C	T37733688G	TRIOBP	NM_001039141.3(TRIOBP):c.4062+276del	noncoding	Benign
22	37733666	CTT	C	T37733687G	TRIOBP	NM_001039141.3(TRIOBP):c.4062+275_4062+276del	noncoding	Benign
22	37733666	CTTT	C	T37733686G	TRIOBP	NM_001039141.3(TRIOBP):c.4062+274_4062+276del	noncoding	Benign
22	37746044	C	CCCCGCCGT	C37746068T	TRIOBP	NM_001039141.3(TRIOBP):c.5322+5013CCCGCCGT[3]	noncoding	Benign
22	37746044	C	CCCCGCCGTCCCGCCGT	C37746068T	TRIOBP	NM_001039141.3(TRIOBP):c.5322+5013CCCGCCGT[4]	noncoding	Benign
22	37746215	G	GAAAA	G37746233A	TRIOBP	NM_001039141.3(TRIOBP):c.5322+5197_5322+5200dup	noncoding	Benign
22	37746215	G	GAAA	G37746233A	TRIOBP	NM_001039141.3(TRIOBP):c.5322+5198_5322+5200dup	noncoding	Benign
22	37746215	G	GAA	G37746233A	TRIOBP	NM_001039141.3(TRIOBP):c.5322+5199_5322+5200dup	noncoding	Benign
22	37759199	GA	G	A37759200G	TRIOBP	NM_001039141.3(TRIOBP):c.6260del:p.Glu2087fs	coding	Pathogenic
22	37765828	T	TGG	C37765837G	TRIOBP	NM_001039141.3(TRIOBP):c.6472+18_6472+19dup	noncoding	Benign
22	37765830	G	GA	G37765831A	TRIOBP	NM_001039141.3(TRIOBP):c.6472+13_6472+14insA	noncoding	Benign
22	37765831	G	GC	G37765832C	TRIOBP	NM_001039141.3(TRIOBP):c.6472+14_6472+15insC	noncoding	Benign
22	37765831	G	GT	G37765832T	TRIOBP	NM_001039141.3(TRIOBP):c.6472+14_6472+15insT	noncoding	Benign
22	37765832	G	GA	G37765833A	TRIOBP	NM_001039141.3(TRIOBP):c.6472+15_6472+16insA	noncoding	Benign
22	37765833	G	GC	G37765834C	TRIOBP	NM_001039141.3(TRIOBP):c.6472+16_6472+17insC	noncoding	Benign
22	37769216	CG	C	G37769219T	TRIOBP	NM_001039141.3(TRIOBP):c.6735+32del	noncoding	Benign
22	37973536	G	GTGTGGGGC	A37973551G	SOX10	NM_006941.4(SOX10):c.1352_1359dup:p.His454fs	coding	Pathogenic/Likely_pathogenic
22	37973809	GC	G	C37973813G	SOX10	NM_006941.4(SOX10):c.1086del:p.Gln364fs	coding	Pathogenic
22	37973929	C	CA	C37973931A	SOX10	NM_006941.4(SOX10):c.966dup:p.Ala323fs	coding	Pathogenic
22	37974115	GCCCGT	G	T37974120C	SOX10	NM_006941.4(SOX10):c.776_780del:p.Asp259fs	coding	Pathogenic
22	37974215	CAGAG	C	A37974224C	SOX10	NM_006941.4(SOX10):c.698-29CT[4]	noncoding	Benign
22	37974239	AGCAGGTTAGAG	A	T37974246G	SOX10	NM_006941.4(SOX10):c.698-52_698-42del	noncoding	Benign
22	37978007	CCCTGGGCGGCCTTCCCGTTCTTCCGCCG	C	G37978015T	SOX10	NM_006941.4(SOX10):c.529_556del:p.Arg177fs	coding	Pathogenic
22	37978061	TG	T	G37978063T	SOX10	NM_006941.4(SOX10):c.502del:p.His168fs	coding	Pathogenic
22	37983408	TACTGGTCCGCG	T	C37983410G	SOX10	NM_006941.4(SOX10):c.366_376del:p.Ala123fs	coding	Pathogenic
22	37983485	G	GT	C37983486T	SOX10	NM_006941.4(SOX10):c.299_300insA:p.Ser100fs	coding	Pathogenic
22	37983517	TG	T	G37983520C	SOX10	NM_006941.4(SOX10):c.267del:p.Met90fs	coding	Pathogenic
22	37983522	ACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTG	A	C37983523T	SOX10	NM_006941.4(SOX10):c.198_262del:p.Lys67fs	coding	Pathogenic
22	37983576	ACG	A	C37983577G	SOX10	NM_006941.4(SOX10):c.207_208del:p.Cys71fs	coding	Pathogenic
22	37983722	GCGGGGCTCCTCCGAGCCCA	G	C37983731A	SOX10	NM_006941.4(SOX10):c.44_62del:p.Val15fs	coding	Pathogenic/Likely_pathogenic
22	37983772	GC	AT	G37983772A	SOX10	NM_006941.4(SOX10):c.12_13delinsAT:p.Gln5Ter	coding	Pathogenic
22	38111973	AGGCGG	A	C38111976T	PLA2G6	NM_003560.4(PLA2G6):c.*183_*187del	noncoding	Benign/Likely_benign
22	38120478	A	AGGCAGGGCAGAGCC	G38120509C	PLA2G6	NM_003560.4(PLA2G6):c.1742+253GGCTCTGCCCTGCC[3]	noncoding	Benign
22	38120810	AG	A	G38120812A	PLA2G6	NM_003560.4(PLA2G6):c.1690del:p.Phe563_Leu564insTer	coding	Pathogenic
22	38120852	CG	C	G38120854A	PLA2G6	NM_003560.4(PLA2G6):c.1648del:p.Arg550fs	coding	Pathogenic
22	38122954	CCCCGCCCCTG	C	C38122957T	PLA2G6	NM_003560.4(PLA2G6):c.1591+131_1591+140del	noncoding	Benign
22	38123207	GATGAT	G	A38123208G	PLA2G6	NM_003560.4(PLA2G6):c.1474_1478del:p.Ile492fs	coding	Pathogenic
22	38129514	CT	C	T38129516C	PLA2G6	NM_003560.4(PLA2G6):c.1125del:p.Val376fs	coding	Pathogenic
22	38135023	CGT	C	G38135024A	PLA2G6	NM_003560.4(PLA2G6):c.857_858del:p.Tyr286fs	coding	Pathogenic
22	38140038	GTTGCACCGAGCA	G	C38140045A	PLA2G6	NM_003560.4(PLA2G6):c.729_740del:p.Ala244_Asn247del	coding	Pathogenic/Likely_pathogenic
22	38143276	G	GC	A38143278C	PLA2G6	NM_003560.4(PLA2G6):c.437dup:p.Cys146fs	coding	Pathogenic/Likely_pathogenic
22	38741243	G	GTA	C38741247A	SUN2	NM_015374.3(SUN2):c.1147-195_1147-194dup	noncoding	Benign
22	39225699	CCA	C	A39225705T	PDGFB	NM_002608.4(PDGFB):c.*18TG[2]	noncoding	Benign
22	39240894	G	GTCTC	A39240915T	PDGFB	NM_002608.4(PDGFB):c.63+2987GA[12]	coding	Benign
22	39240918	TGC	T	G39240921A	PDGFB	NM_002608.4(PDGFB):c.63+2981_63+2982del	noncoding	Benign
22	39240921	G	GCACA	T39240943A	PDGFB	NM_002608.4(PDGFB):c.63+2960TG[12]	noncoding	Benign
22	39240939	ACACT	A	A39240941T	PDGFB	NM_002608.4(PDGFB):c.63+2958_63+2961del	noncoding	Benign
22	39240941	ACT	A	C39240958T	PDGFB	NM_002608.4(PDGFB):c.63+2942AG[8]	noncoding	Benign
22	39243944	A	AGC	C39243949G	PDGFB	NM_002608.4(PDGFB):c.18_19dup:p.Leu7fs	coding	Pathogenic
22	39244732	GGCTGCGA	G	A39244753G	PDGFB	NM_002608.4(PDGFB):c.-790TCGCAGC[2]	noncoding	Benign
22	40266218	CAG	C	A40266219G	TNRC6B	NM_001162501.2(TNRC6B):c.1989_1990del:p.Gly665fs	coding	Pathogenic
22	40280080	TGGGTTCCGTC	T	G40280081C	TNRC6B	NM_001162501.2(TNRC6B):c.3349_3358del:p.Gly1117fs	coding	Pathogenic
22	40312617	TACTG	T	T40312620C	TNRC6B	NM_001162501.2(TNRC6B):c.4551_4554del:p.Asp1518fs	coding	Pathogenic
22	40315471	AG	A	G40315476T	TNRC6B	NM_001162501.2(TNRC6B):c.4872del:p.Trp1625fs	coding	Pathogenic
22	40346469	T	TCCCGC	T40346484C	ADSL	NC_000022.10:g.40742473_40742474insCCCGC	noncoding	Benign
22	40349863	TC	T	C40349865A	ADSL	NM_000026.4(ADSL):c.187del:p.Gln63fs	coding	Pathogenic
22	40359269	CT	C	T40359271G	ADSL	NM_000026.4(ADSL):c.666del:p.Asp223fs	coding	Pathogenic
22	40360726	C	CT	C40360739T	ADSL	NM_000026.4(ADSL):c.792+246dup	noncoding	Benign
22	40361579	GC	G	C40361580T	ADSL	NM_000026.4(ADSL):c.955del:p.Leu319fs	coding	Pathogenic
22	40362972	GT	G	T40362976C	ADSL	NM_000026.4(ADSL):c.1011-5del	noncoding	Benign
22	40362994	GC	G	C40362996G	ADSL	NM_000026.4(ADSL):c.1026del:p.Glu343fs	coding	Pathogenic
22	40364076	C	CA	G40364087A	ADSL	NM_000026.4(ADSL):c.1102-190dup	noncoding	Benign
22	40417060	GA	G	A40417072G	MRTFA	NM_020831.6(MRTFA):c.2518-15del	noncoding	Benign
22	40417060	G	GA	G40417073A	MRTFA	NM_020831.6(MRTFA):c.2518-15dup	noncoding	Benign
22	40463201	TGAGA	T	A40463209G	MRTFA	NM_020831.6(MRTFA):c.307+10TC[3]	noncoding	Benign
22	40508703	C	CT	G40508714T	MRTFA	NM_020831.6(MRTFA):c.241+43393dup	noncoding	Benign
22	40508703	CT	C	T40508713G	MRTFA	NM_020831.6(MRTFA):c.241+43402del	noncoding	Benign
22	40856966	T	TA	G40856985A	XPNPEP3	Single_allele	noncoding	Benign
22	40861830	T	TA	C40861832A	XPNPEP3	NM_145174.2(DNAJB7):c.164dup:p.Leu56fs	coding	Benign
22	40886367	AC	A	C40886368T	XPNPEP3	NM_022098.4(XPNPEP3):c.645del:p.Ser216fs	coding	Pathogenic
22	40886442	T	TA	C40886444A	XPNPEP3	NM_022098.4(XPNPEP3):c.720dup:p.Gln241fs	coding	Pathogenic
22	40909194	TCAAA	T	A40909197C	XPNPEP3	NM_022098.4(XPNPEP3):c.931_934del:p.Asn311fs	coding	Pathogenic
22	41117198	CTATT	C	A41117200G	EP300	NM_001429.4(EP300):c.108_111del:p.Phe37fs	coding	Pathogenic
22	41117740	C	CA	C41117743A	EP300	NM_001429.4(EP300):c.650dup:p.Asn217fs	coding	Pathogenic
22	41130254	T	TA	G41130271A	EP300	NM_001429.4(EP300):c.1282+267dup	noncoding	Benign
22	41131427	GCT	G	C41131432A	EP300	NM_001429.4(EP300):c.1327_1328del:p.Leu443fs	coding	Pathogenic
22	41131527	C	CT	A41131529T	EP300	NM_001429.4(EP300):c.1423dup:p.Tyr475fs	coding	Pathogenic
22	41146833	A	AT	A41146841T	EP300	NM_001429.4(EP300):c.2131+24dup	noncoding	Benign
22	41147928	AC	A	C41147930T	EP300	NM_001429.4(EP300):c.2225del:p.Pro742fs	coding	Pathogenic
22	41149020	G	GT	C41149035T	EP300	NM_001429.4(EP300):c.2242-4dup	noncoding	Benign
22	41149020	GT	G	T41149034C	EP300	NM_001429.4(EP300):c.2242-4del	noncoding	Benign
22	41149128	A	AC	A41149130C	EP300	NM_001429.4(EP300):c.2333dup:p.Asn779fs	coding	Pathogenic
22	41149326	TGAA	T	A41149329G	EP300	NM_001429.4(EP300):c.2379+154_2379+156del	noncoding	Benign
22	41150384	CAGGAGCATAAAGATTTTATTTAGCTCTGACTTTGACCATTATGTTTCATGTTGTACCCTGAGGTCTGAAGGTACGTAAAGGGGTACGACAAGGGGACACAATCCTTCTCCTTATTTAGTATATTATTTAGTGCAGCACATAAATTTTACATATATTTAAGGAATCTTTTTCAAACAGTTTGAGCCATAAAACCTAGAGATTGAATTTAAAAATTGCAGATTTGGACGGGCGCGGTGGTGTACACTTTTCATCCTAGCACTTTGGGAGGCTGTGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAAATAACAAAAATTAGCCAGACATGGTAGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGATCCGAGATTGCGCCACTGCACTCTAGCCTAGGCGACAGAGTGAAACTCCGTCTAAAAAAAAAAAAAAAAATTGCAGATTTATGAGTCCTTGTGGCCCAAACCAAAGTTTAAAAATAAGATGAGAGAATTATAGACCCAGAACAACCTGTAGCTTCCTTGTGAGAGGTTGGTTATGTATATAATAAAAATCCAAATTCTCATCTAATAGTTGAATCCTTATTAATAGAACTTTTTTTAAGGGTTTAGAAGCTTCTACTTTGATACCGATATTAATATATATCGGTATCCAATAGTTCTCAGCCATGTTGATGAACTGAGAAGTTCCATGAGTCACAGCCGTTTTATAAAGTACTGTACTTGACGGATGGCTGGTTCATCGTGGCCTCTGATAGACAAGGAAGGACAGAATGAGAGAGGAACCAGTGGATCTGCTTGATTTTATTCTTTATAAAATCAAGGATACTTCCAGAAAATACTGACTTCTCATTAAGAGATTTCTTATGACAAGCCTTAGGATAAAGATAGGGAATGCCAGTTTATCTCATTAGAATCTAGCGATTCAAAACAGCCACTCTCTGGGACATCATTATATTTATTGTCTCCTTTTCTGTACCTTTGAAACTTTCTCTGGTGAGAAGGTAAAAACAAGCCAGTCTTTCTTATTTTCTTTCACTCATTTCTGTATAAATGTGAGCTCCTCTGAAGCAGACATCTTTGAAATCCCCACACACTGCCAGATAATGATAGTTATCAATGAAATAGTTGCTGGTTCTTTGATGTACAATCAGCCAACCAGTATTTACAAGTCTTAATTCTCCTGTTCTTAAGCATAATTAAGGGAGGTGAAATGGGCAGAGCAAATGAAAGCACCATGAATAAATATAAGCCAAGAAATAGGTGGCTAATTCTGCTATCCTGTTGCTTACCTTACATTCTGATTGTATCGTTGGCAGACTCTGCGTGTGTCTCACCTACTTCCCTTTTTTTTCTGCCCAGCTTTCCCAGCCAGCTGTAAGCATTGAAGGACAGGTATCAAATCCTCCATCTACTAGTAGCACAGAAGTGAATTCTCAGGCCATTGCTGAGAAGCAGCCTTCCCAGGAAGTGAAGATGGAGGCCAAAATGGAAGTGGATCAACCAGAACCAGCAGATACTCAGCCGGAGGATATTTCAGAGGTGAGAGTAGGGCAATTACTGTTTGATTTGGTTAGGACCTCAGTATAGGAACCCAAGTTTTAAAAAATATTGCAGAAAAATATTTTGATAATTAGATCTCATGGCATAGATTTTGCATGAGAAAGGGTGTTCAGATTACTGATTCCCAACTAGATATCTTTGGAATACTAAAAATTCTTACGTTTTCTTTTAGTCTAAAGTGGAAGACTGTAAAATGGAATCTACCGAAACAGAAGAGAGAAGCACTGAGTTAAAAACTGAAATAAAAGAGGAGGAAGACCAGCCAAGTACTTCAGCTACCCAGTCATCTCCGGCTCCAGGACAGTCAAAGAAAAAGAGTGAGTCTCTGAAGCCATTCGTTCTGGAGGTAGCTGAAGAAACCAAAGACCCAGGGCAGAATTGCGGTCATGCCTCTTGGGCCTCAGAAGTTGCCATTATTGTGATTTCATTAACCTGGAAGCCCTGGGCCTGGTCTCTTCATTGTTACTAATAATTTTTCTTTCTTTTTTTTTTTTTTAATATTCACTTGCAGCAACCAATGAGTTAAGTCATTCCCCTCATTTCTTCAGGGTTCCCTGTGTTAGTACACCCTAAAAATTGTCTCATTTTTCAGGAGAGAGAAATGTTTGTAAATAGCCTTGACTAAAATGCAGGAAAGAATAGCAATAGTAATAGCATTTGTCATTCACCTGCTGTGTGCTAAGTATCCACATTGTCTCATTTAATAATTTCTTTCTTTCTTTTTCTTTTCTTTTTTGTTTGGAATCGGATTCTCACTTTTGTTGTTCAGGCTGGAGTGCAGTGGCGGGATCTGAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTATCTGGGACTGCATGCGCATGCCACCATGCCCGTCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCGTGTTGGCCAGGATGGTCTCGATCTCTTGACCTGGTGATCCACCCGCTTCGAGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACACCCGGCCTCATTTAATAATTTCACAACAGCTCTGAGGTTATTGGCCTGAAGCTTAGCAAAGTTAAGTAACTTTCCACAGGTTACTCAGCTGACCCTACTGCCTGGGCCAGGAAGCAGACCCAGGCAGTCTGAGGCAGAGTGCTCAAATCCAGCCATTCCAACAAGTGTTAATTGACTATTTTAGGACTAGAACTTTTGTGGCTCTAGTGATCTGCAAAAGGCACCAGGTAGGACATACCTGAGGAGTGAGTCTGCTGGCTCTTACAGATGATATATATTGAAAAGTGTTCCATTAATACAATGTGTTGTAAAATGTTGGGATTAAAAAATTATTTTCATTTTAAAAATAAGACTTGTATATATTGAGGTGTTTTAATATGGGCTGTAACAAACCCAGTCTTACTATTGGCAATCTCTCTTTAAAATGTGTGTTCCCTCATGCCTGTAATCCCACCGCTTTGGGAGGCCGAGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCTGTCTCTACTAAAAGTACAAAAGTTAGCCGGGTGTGGTGGCTCTCACCCGTAGTCCCATCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGATGGAAGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGAGTGACAGAGAGTAATTGTCTCAAACAAATAAATAAAATAAAATGTCTAATTTCACAAGTTTATTCAAATAGTCCTTATTTTTAGCACAGCTAAATATGAGTGACAAGCATCTTCGTAGTCTGGTTTCCCCCCACTCCATGGCAACCCCCCAGAGGTGAAAATTATCTGAAGTAACAAATATACTCTACCGATGATGAAATTTTTTTTGCCAATTAAGAAAAAATAAGGCCCTTGCTGAAATTGAAAGCTTTTTAAATCACTGGCTTCTCAAAGAACTGTTTGATTCCATTTGGGACACACCAACAAATTTTTCCGGACTTTTTGGGAAATATCATTGAGAACACATTTGAACTTAATTTGATCAACTAAGTCTATTATTTTAGCAATACCATTTTTGTTCTCTCTTCTTTTAAACTTAAACCTAACATTTGTCATTAAAATAGTACATGTCTCTTTTTCTTTGGCTCTAAAATACCAAGCATTTGAACGAAGGAGTCTTCTCTTCTGTGCCCCTGACTCCTTGTAGTATAAGACAATACCTGATCTAGTCTAGTTTCTGACTTGTTAAATACTGATGTCATGAAGAAAGACTTTTCTGTTCTTGCTTGACTGCATCTCCCTCTTAACACGAGTATCTTGTGCACTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGCCTCATTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACATCTGCCTCCCGAGTTCAAGCAGTTCTCTTGCCTCAAGCCTCCTGAGTAGCTGAGACTAGCATGCCACCATGTCCGACTAATTTTTTATATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGAAACTTCTGACCTCAAAGTGATCTGCCCACCTCAGCCTCCACCGTGCCTGGTCCCATGGACTCTTATTTGGCAAAGTCTCTTCATAAATTTTTAGAAGCCTTTGGATTCTGCTTCTAATTGACCGAGTCTGTCTTCACTGACTTTGTGACTGAAAAGTTAAGCTGAGGGTGAAGAGTGTTTTAAGGTGATAAGACACAATGTTTTTTAGGAGCTGTCTGAAACAAAGCGGGGCTTAGAATCTAGAATCAGTGATTGAGCCTGTAGTGATATTTCCATGGGGACAGAGTGGTTAATTTTGTTATTGATTCTTGAGATGCTTTTAGAGCTTCAGGCTGAATGATTTTTTAAAGTTCTTCTGCTTAATTGGTAACTAATTTCAAATGCACTTTTTTTTTTTAAGTTTTCAAACCAGAAGAACTACGACAGGCACTGATGCCAACTTTGGAGGCACTTTACCGTCAGGATCCAGAATCCCTTCCCTTTCGTCAACCTGTGGACCCTCAGCTTTTAGGAATCCCTGTAAGTATTTGGTGGTACTTTTGATTTTATTTTTTAATTTGATAACAGCTTTATTGAGAGATAATTCACATTCCAAACAGTATAGCCACTCATTTCAAATTTGTAATTCAGTGATTTTTTTTTTTTCCCCCTGAGACAGGGTCTTATTCTGGTTGCCTAGGCTGGAGTGCAGTGGCACGATCGTGGCTCACTACTGTCTCCACCTCCCGGGCTCAGGTGATTCTCCCACCTCAGCATCCTGAGTAGCTGGGATAACTACATTCATGTGCCACCTCACCTGGCTAGTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACGCCTGGACTCAAGCAATAGGCCCATCTCAGCCTCCCAGAGTGCTGGAATTACAGGTGTGAGCCACTGGGCCTGGCCTAATTCAGGGAGTTTTAGTATATTCACAGAGTTGTGCATGACACTTTCATTTTCATCATCTGAAAAAAATCCTTTACCATTAACAGTCACTCACTATTTTCTCCCATAGCACCCCAATCCTAGACATCACCAGACTGCATTCTGTCTCTGGATTTGTCTGTTCTACATGTTTCATTAAATTGGAACATACAGTATGTGATTCTTTGTGCCAGGACGTTCCTTAGCATAATGTTTTCAAGGTTCATCCATGTTGTAGCATGAATCAGTAGCACATACCTATTTATAGCCCAATAATATTCCATTATTTTTCTTTACCTGTTGATGAGTTGATAGACATTTAGGTTGTTTACACGTTTTGACTATTAAGATAGGACTGTAGTGAACATTGTGTGGATTTAAGTTTTTATTTCTCCTTGGTATTTACCTAGGAGTGGAATTCCTGGGTTATATAGTTTGTTTACTTTTTTGTTGTTGTTATTTGTTTTTTGTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCAATCTCAGTTCACCTCAACCTCCCCCTCCCGGGTTCAAGCAGTTCTCCTACCTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTGTATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGATGATCCACCCACCTCGGCCTCCCAGAATGCCCAGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTCGTTGTTTCAAGAGCAATAGGTCATAGCAGAAAAAAGGACCGTGGTTAGCTTTGTTTTTAAAGTTGCCTCCATATACTAGGCTGCTGGCAGATTTCATTTGGTGGTTTTAAACTGTTACTTGGCCGGGCACGGTGGCTAACGCCTGTAATCCCAACACTTTTGGAGGCCAAGGCAGGCAGATCACTTGAGTTCAGGAGTTGGAGACCAGCCTCACCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAAGTAACTGGGCGTGGTGGTGCACGCCTGTAATCCTGGCTACTTGGGAGGCTGAGGCAGGTGAATAGTTTGAACGACCCTGGGAGGCAGAGGTTGCACTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACATGTTGACAGAGACTCCATCTCAAAGGTCAAGTGCTTCCAGGGGCAAAAGCCTTTTAGGACTTTTCCTCTCTTGTATCTTGCTGTGATTTCAGATGGAACATTTTAAGTTCTGTGGGCTTAGTTTCCTCATTGTACACCCCTTCTAGTACTAAAATTTTAAATGTCTTTGACTTTACTGATCTCACATGTACTTTCATAAAGAACCTGAAGTTGCTTCAGTAGAATATCAGCCTGATGTCTAGAAAGTCCATAGTAGTTCTGTTTCTCTGCCCTTT	TG	C41150384T	EP300	NM_001429.4(EP300):c.2817+186_3262-187delinsTG	noncoding	Pathogenic
22	41151673	A	AG	A41151677G	EP300	NM_001429.4(EP300):c.2818-157dup	noncoding	Benign
22	41152191	T	TA	C41152193A	EP300	NM_001429.4(EP300):c.2998-14dup	noncoding	Benign
22	41152199	CT	C	T41152203A	EP300	NM_001429.4(EP300):c.2998-3del	noncoding	Benign
22	41154980	C	CTT	A41154992T	EP300	NM_001429.4(EP300):c.3143-5_3143-4dup	noncoding	Benign
22	41155227	A	AT	C41155240T	EP300	NM_001429.4(EP300):c.3261+126dup	noncoding	Benign
22	41155227	AT	A	T41155239C	EP300	NM_001429.4(EP300):c.3261+126del	noncoding	Benign
22	41160419	C	CA	C41160431A	EP300	NM_001429.4(EP300):c.3591-212dup	noncoding	Benign
22	41160972	G	GT	A41160974T	EP300	NM_001429.4(EP300):c.3671+251dup	noncoding	Benign
22	41162732	TA	T	A41162735G	EP300	NM_001429.4(EP300):c.3684del:p.Glu1229fs	coding	Pathogenic
22	41166616	G	GTT	A41166620T	EP300	NM_001429.4(EP300):c.3826_3827dup:p.Leu1276fs	coding	Pathogenic
22	41169545	T	TCCTA	A41169550C	EP300	NM_001429.4(EP300):c.4216_4219dup:p.Lys1407delinsThrTer	coding	Pathogenic
22	41170653	C	CT	G41170680T	EP300	NM_001429.4(EP300):c.4452+108dup	noncoding	Benign
22	41170653	C	CTT	G41170680T	EP300	NM_001429.4(EP300):c.4452+107_4452+108dup	noncoding	Benign
22	41170653	C	CTTT	G41170680T	EP300	NM_001429.4(EP300):c.4452+106_4452+108dup	noncoding	Benign
22	41170653	CT	C	T41170679G	EP300	NM_001429.4(EP300):c.4452+108del	noncoding	Benign
22	41170653	CTTTTTTT	C	T41170673G	EP300	NM_001429.4(EP300):c.4452+102_4452+108del	noncoding	Benign
22	41176251	TC	T	C41176252T	EP300	NM_001429.4(EP300):c.4785del:p.Phe1596fs	coding	Pathogenic
22	41176287	A	ACTCCCTGC	A41176301T	EP300	NM_001429.4(EP300):c.4826_4833dup:p.Ile1612fs	coding	Pathogenic
22	41176338	TG	T	G41176340A	EP300	NM_001429.4(EP300):c.4873del:p.Asp1625fs	coding	Pathogenic
22	41177809	TG	T	G41177812C	EP300	NM_001429.4(EP300):c.6101del:p.Gly2034fs	coding	Pathogenic
22	41178033	CA	C	A41178034G	EP300	NM_001429.4(EP300):c.6323del:p.Gln2108fs	coding	Pathogenic
22	41178547	G	GCC	A41178553C	EP300	NM_001429.4(EP300):c.6840_6841dup:p.Gln2281fs	coding	Pathogenic
22	41515789	GCT	G	T41515797C	ACO2	NM_001098.3(ACO2):c.715_716del:p.Ser239fs	coding	Pathogenic
22	41515902	T	TC	A41515905C	ACO2	NM_001098.3(ACO2):c.822dup:p.Ile275fs	coding	Pathogenic/Likely_pathogenic
22	41518491	TC	T	C41518492T	ACO2	NM_001098.3(ACO2):c.952del:p.Asn317_Leu318insTer	coding	Pathogenic
22	41520263	G	GGACATCC	G41520273C	ACO2	NM_001098.3(ACO2):c.1128_1134dup:p.Val379fs	coding	Pathogenic
22	41522649	GT	G	T41522651A	ACO2	NM_001098.3(ACO2):c.1139-179del	noncoding	Benign
22	41522944	C	CA	G41522946A	ACO2	NM_001098.3(ACO2):c.1254dup:p.Gly419fs	coding	Pathogenic
22	41523219	G	GA	G41523220A	ACO2	NM_001098.3(ACO2):c.1311_1312insA:p.Asp438fs	coding	Pathogenic
22	41524896	C	CGACT	A41524901G	ACO2	NM_001098.3(ACO2):c.1534_1537dup:p.Tyr513Ter	coding	Pathogenic
22	41524896	CGACT	C	G41524897A	ACO2	NM_001098.3(ACO2):c.1534_1537del:p.Asp512fs	coding	Pathogenic
22	41524920	CA	C	A41524922G	ACO2	NM_001098.3(ACO2):c.1559del:p.Lys520fs	coding	Pathogenic
22	41525252	TG	T	G41525253T	ACO2	NM_001098.3(ACO2):c.1666del:p.Val556fs	coding	Pathogenic
22	41526182	GCTGC	G	G41526189C	ACO2	NM_001098.3(ACO2):c.1762-73_1762-70del	coding	Benign
22	41526333	T	TA	C41526336A	ACO2	NM_001098.3(ACO2):c.1835dup:p.Asn612fs	coding	Pathogenic
22	42060466	A	AC	G42060475C	NAGA	NM_000262.3(NAGA):c.1102-61dup	noncoding	Benign
22	42066691	A	AG	C42066697G	NAGA	NM_000262.3(NAGA):c.597+18dup	noncoding	Benign
22	42210083	CCT	C	C42210086T	TCF20	NM_001378418.1(TCF20):c.5221_5222del:p.Arg1741fs	coding	Pathogenic
22	42210132	T	TA	G42210138A	TCF20	NM_001378418.1(TCF20):c.5173dup:p.Tyr1725fs	coding	Pathogenic
22	42210317	G	GC	T42210322C	TCF20	NM_001378418.1(TCF20):c.4988dup:p.Arg1664fs	coding	Pathogenic
22	42210886	T	TAC	C42210889A	TCF20	NM_001378418.1(TCF20):c.4418_4419dup:p.Ser1474fs	coding	Pathogenic
22	42211038	T	TC	T42211041C	TCF20	NM_001378418.1(TCF20):c.4267dup:p.Glu1423fs	coding	Pathogenic
22	42211456	G	GGA	C42211458A	TCF20	NM_001378418.1(TCF20):c.3849_3850insTC:p.Leu1284fs	coding	Pathogenic
22	42212135	TTC	T	C42212137G	TCF20	NM_001378418.1(TCF20):c.3169_3170del:p.Glu1057fs	coding	Pathogenic
22	42212557	TG	T	G42212559A	TCF20	NM_001378418.1(TCF20):c.2748del:p.Met917fs	coding	Pathogenic
22	42212986	CTT	C	T42212987G	TCF20	NM_001378418.1(TCF20):c.2318_2319del:p.Gln773fs	coding	Pathogenic
22	42213061	AT	A	T42213066C	TCF20	NM_001378418.1(TCF20):c.2244del:p.Lys748fs	coding	Pathogenic
22	42213449	CT	C	T42213453C	TCF20	NM_001378418.1(TCF20):c.1856del:p.Lys619fs	coding	Pathogenic
22	42213649	A	AG	C42213652G	TCF20	NM_001378418.1(TCF20):c.1656dup:p.Ser553fs	coding	Pathogenic
22	42214138	TGA	T	A42214142G	TCF20	NM_001378418.1(TCF20):c.1166_1167del:p.Leu389fs	coding	Pathogenic
22	42214161	C	CA	G42214163A	TCF20	NM_001378418.1(TCF20):c.1144dup:p.Cys382fs	coding	Pathogenic
22	42214474	CCA	C	C42214477T	TCF20	NM_001378418.1(TCF20):c.830_831del:p.Val277fs	coding	Pathogenic
22	42215070	T	TA	C42215073A	TCF20	NM_001378418.1(TCF20):c.235dup:p.Tyr79fs	coding	Pathogenic
22	42215138	ACCACTG	A	C42215152T	TCF20	NM_001378418.1(TCF20):c.150CAGTGG[2]:p.51SG[2]	coding	Benign
22	42619848	T	TG	C42619855G	CYB5R3	NM_000398.7(CYB5R3):c.830dup:p.Pro278fs	coding	Pathogenic
22	42623815	CA	C	A42623816G	CYB5R3	NM_000398.7(CYB5R3):c.706del:p.Trp236fs	coding	Pathogenic
22	42649506	A	AT	G42649508T	CYB5R3	Single_allele	noncoding	Benign
22	42649614	CG	C	G42649616A	CYB5R3	Single_allele	noncoding	Benign
22	42693447	A	AG	C42693451G	A4GALT	NM_017436.7(A4GALT):c.504dup:p.Tyr169fs	coding	Pathogenic
22	42693650	GC	G	C42693652G	A4GALT	NM_017436.7(A4GALT):c.301del:p.Ala101fs	coding	Pathogenic
22	45519056	T	TGCAGCTGCTCTGCCACAGCTGG	T45519064C	FBLN1	NM_006486.3(FBLN1):c.185+276_185+277insCTCTGCCACAGCTGGGCAGCTG	noncoding	Benign
22	45528121	T	TG	C45528126G	FBLN1	NM_006486.3(FBLN1):c.484+116dup	noncoding	Benign
22	45533714	TG	T	G45533717T	FBLN1	NM_006486.3(FBLN1):c.647-44del	noncoding	Benign
22	45534194	G	GT	A45534196T	FBLN1	NM_006486.3(FBLN1):c.784+297dup	noncoding	Benign
22	45740739	C	CGT	A45740756G	ATXN10	NM_013236.4(ATXN10):c.1173+202GT[9]	noncoding	Benign
22	45740754	G	GTA	G45740768A	ATXN10	NM_013236.4(ATXN10):c.1173+217TA[7]	noncoding	Benign
22	46335867	G	GC	G46335874C	TRMU	NM_018006.5(TRMU):c.82+27dup	noncoding	Benign
22	46337867	T	TTA	C46337870T	TRMU	NM_018006.5(TRMU):c.172_173dup:p.Arg59fs	coding	Pathogenic
22	46343173	T	TTC	A46343175C	TRMU	NM_018006.5(TRMU):c.249-88_249-87insCT	noncoding	Benign
22	46343199	CT	C	T46343214G	TRMU	NM_018006.5(TRMU):c.249-48del	noncoding	Benign
22	46343301	T	TCCTGACATAGTTTGCAACAAGCACATCAAATTTAGTTG	T46343341C	TRMU	NM_018006.5(TRMU):c.290_327dup:p.Phe110delinsLeuThrTer	coding	Pathogenic
22	46346194	TTAAG	T	A46346197G	TRMU	NM_018006.5(TRMU):c.356-225_356-222del	noncoding	Benign
22	46346483	T	TG	A46346485G	TRMU	NM_018006.5(TRMU):c.418dup:p.Glu140fs	coding	Pathogenic
22	46346493	C	CACGTTAAGAAGCCCGAAGGGCTTTTCAGAAAT	C46346526A	TRMU	NM_018006.5(TRMU):c.428_459dup:p.Arg154fs	coding	Pathogenic
22	46349980	GT	G	T46349995C	TRMU	NM_018006.5(TRMU):c.479-296del	noncoding	Benign
22	46350096	G	GT	G46350108T	TRMU	NM_018006.5(TRMU):c.479-184dup	noncoding	Benign
22	46350406	GT	G	T46350409G	TRMU	NM_018006.5(TRMU):c.597del:p.Phe199fs	coding	Pathogenic
22	46352287	C	CT	A46352291T	TRMU	NM_018006.5(TRMU):c.732dup:p.Ile245fs	coding	Pathogenic
22	46352305	C	CA	T46352308A	TRMU	NM_018006.5(TRMU):c.749dup:p.Asn250fs	coding	Pathogenic
22	46353796	GC	G	C46353797A	TRMU	NM_018006.5(TRMU):c.803del:p.Ala268fs	coding	Pathogenic
22	46355446	CCCCCGGACAGACCACCCAG	C	C46355450T	TRMU	NM_018006.5(TRMU):c.880_898del:p.Arg294fs	coding	Pathogenic
22	46356687	TCAG	T	G46356705A	TRMU	NM_018006.5(TRMU):c.1102-154CAG[5]	noncoding	Benign
22	46409100	T	TG	A46409102G	CELSR1	NM_001378328.1(CELSR1):c.5121dup:p.Ile1708fs	coding	Pathogenic
22	49904342	T	TG	C49904350G	ALG12	NM_024105.4(ALG12):c.1156dup:p.Gln386fs	coding	Pathogenic/Likely_pathogenic
22	49908951	C	CAA	G49908970A	ALG12	NM_024105.4(ALG12):c.768+275_768+276dup	noncoding	Benign
22	49908951	C	CA	G49908970A	ALG12	NM_024105.4(ALG12):c.768+275dup	noncoding	Benign
22	49909323	T	TA	G49909326A	ALG12	NM_024105.4(ALG12):c.688dup:p.Tyr230fs	coding	Pathogenic
22	49913581	CA	C	A49913584G	ALG12	NM_024105.4(ALG12):c.162+22del	noncoding	Benign
22	50064178	CAGCAGCA	C	A50064179C	MLC1	NM_015166.4(MLC1):c.908_914del:p.Val303fs	coding	Pathogenic
22	50064632	GT	G	T50064633G	MLC1	NM_015166.4(MLC1):c.895-435del	noncoding	Benign
22	50070561	CT	C	T50070562G	MLC1	NM_015166.4(MLC1):c.736del:p.Ser246fs	coding	Pathogenic
22	50074215	CGGCCACTA	C	C50074218A	MLC1	NM_015166.4(MLC1):c.705_712delCCTAGTGG:p.Val237fs	noncoding	Pathogenic
22	50074290	T	TC	G50074297C	MLC1	NM_015166.4(MLC1):c.639dup:p.Ile214fs	coding	Pathogenic
22	50076554	CA	C	A50076570T	MLC1	NM_015166.4(MLC1):c.597+286del	noncoding	Benign
22	50080005	CT	C	T50080006G	MLC1	NM_015166.4(MLC1):c.335del:p.Gln112fs	coding	Pathogenic
22	50080016	GA	G	A50080018T	MLC1	NM_015166.4(MLC1):c.324del:p.Asn110fs	coding	Pathogenic/Likely_pathogenic
22	50084766	CA	C	A50084767G	MLC1	NM_015166.4(MLC1):c.136del:p.Cys46fs	coding	Pathogenic/Likely_pathogenic
22	50158083	CCCAT	C	C50158085G	MOV10L1	NM_018995.3(MOV10L1):c.3095_3098del:p.Pro1032fs	coding	Pathogenic
22	50218119	T	TG	A50218126G	TUBGCP6	NM_020461.4(TUBGCP6):c.5169-8dup	noncoding	Benign
22	50218269	GAACT	G	A50218270C	TUBGCP6	NM_020461.4(TUBGCP6):c.5084_5087del:p.Glu1695fs	coding	Pathogenic
22	50219782	CTG	C	G50219786C	TUBGCP6	NM_020461.4(TUBGCP6):c.4175_4176del:p.Thr1392fs	coding	Pathogenic
22	50219957	CTG	C	T50219960A	TUBGCP6	NM_020461.4(TUBGCP6):c.4165_4166del:p.Gln1389fs	coding	Pathogenic
22	50220267	ACT	A	C50220268G	TUBGCP6	NM_020461.4(TUBGCP6):c.4090_4091del:p.Ser1364fs	coding	Pathogenic
22	50220465	A	AG	C50220472G	TUBGCP6	NM_020461.4(TUBGCP6):c.3893dup:p.Gly1299fs	coding	Pathogenic/Likely_pathogenic
22	50220471	GC	G	C50220472T	TUBGCP6	NM_020461.4(TUBGCP6):c.3887del:p.Ser1296fs	coding	Pathogenic
22	50220510	TGA	T	A50220516C	TUBGCP6	NM_020461.4(TUBGCP6):c.3847_3848del:p.Ser1283fs	coding	Pathogenic
22	50220832	GAC	G	C50220836G	TUBGCP6	NM_020461.4(TUBGCP6):c.3525_3526del:p.Ser1176fs	coding	Pathogenic
22	50221267	CCT	C	C50221268G	TUBGCP6	NM_020461.4(TUBGCP6):c.3090_3091del:p.Gly1032fs	coding	Pathogenic
22	50221565	AG	A	G50221571C	TUBGCP6	NM_020461.4(TUBGCP6):c.2793del:p.Ser932fs	coding	Pathogenic
22	50221749	CT	C	T50221751A	TUBGCP6	NM_020461.4(TUBGCP6):c.2609del:p.Lys870fs	coding	Pathogenic
22	50222026	AC	A	C50222028T	TUBGCP6	NM_020461.4(TUBGCP6):c.2484+1del	noncoding	Pathogenic
22	50222480	G	GA	C50222485A	TUBGCP6	NM_020461.4(TUBGCP6):c.2382dup:p.Leu795fs	coding	Pathogenic
22	50224176	C	CA	G50224178A	TUBGCP6	NM_020461.4(TUBGCP6):c.2234dup:p.Lys746fs	coding	Pathogenic
22	50224511	CA	C	A50224512C	TUBGCP6	NM_020461.4(TUBGCP6):c.2064del:p.Ser688fs	coding	Pathogenic
22	50225576	GCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAA	G	T50225597A	TUBGCP6	NM_020461.4(TUBGCP6):c.1983+158_1983+217del	noncoding	Benign
22	50225587	GCACCCACCCTTCATCTCAACTCCCCGTTGA	G	G50225613C	TUBGCP6	NM_020461.4(TUBGCP6):c.1983+177_1983+206del	noncoding	Benign
22	50225882	TC	T	C50225884T	TUBGCP6	NM_020461.4(TUBGCP6):c.1894del:p.Glu632fs	coding	Pathogenic
22	50225907	TC	T	C50225909G	TUBGCP6	NM_020461.4(TUBGCP6):c.1869del:p.Ile624fs	coding	Pathogenic
22	50227084	CCA	C	C50227085G	TUBGCP6	NM_020461.4(TUBGCP6):c.1413-9_1413-8del	noncoding	Benign
22	50227998	G	GC	A50228000C	TUBGCP6	NM_020461.4(TUBGCP6):c.1320dup:p.Gln441fs	coding	Pathogenic
22	50228004	A	AC	T50228007C	TUBGCP6	NM_020461.4(TUBGCP6):c.1314dup:p.Tyr439fs	coding	Pathogenic
22	50233435	G	GC	T50233437C	TUBGCP6	NM_020461.4(TUBGCP6):c.996dup:p.Leu333fs	coding	Pathogenic
22	50243617	C	CAAAA	G50243635A	TUBGCP6	NM_020461.4(TUBGCP6):c.741+85_741+88dup	noncoding	Benign
22	50243617	C	CAAA	G50243635A	TUBGCP6	NM_020461.4(TUBGCP6):c.741+85_741+87dup	noncoding	Benign
22	50243617	C	CAA	G50243635A	TUBGCP6	NM_020461.4(TUBGCP6):c.741+85_741+86dup	noncoding	Benign
22	50243773	TCG	T	C50243774G	TUBGCP6	NM_020461.4(TUBGCP6):c.685_686del:p.Arg229fs	coding	Pathogenic
22	50244603	A	AT	A50244610T	TUBGCP6	NM_020461.4(TUBGCP6):c.-145dup	noncoding	Benign
22	50447308	C	CG	C50447311G	SBF1	NM_002972.4(SBF1):c.5583+12dup	noncoding	Benign
22	50455840	G	GC	G50455843C	SBF1	NM_002972.4(SBF1):c.4267-260dup	noncoding	Benign
22	50456453	GCCCCCACCCTCAC	G	T50456463C	SBF1	NM_002972.4(SBF1):c.4086+26_4086+38del	noncoding	Benign
22	50460375	C	CT	G50460378T	SBF1	NM_002972.4(SBF1):c.3179dup:p.Lys1061fs	coding	Pathogenic
22	50460722	TA	T	A50460726G	SBF1	NM_002972.4(SBF1):c.2968-11del	noncoding	Benign
22	50461326	AG	A	G50461337T	SBF1	NM_002972.4(SBF1):c.2840-41del	noncoding	Benign
22	50461326	AGG	A	G50461336T	SBF1	NM_002972.4(SBF1):c.2840-42_2840-41del	noncoding	Benign
22	50462186	CCCCCAGTCCCTG	C	C50462189T	SBF1	NM_002972.4(SBF1):c.2396+7_2396+18del	noncoding	Benign
22	50462445	TCC	T	C50462446T	SBF1	NM_002972.4(SBF1):c.2154_2155del:p.Asp719fs	coding	Pathogenic/Likely_pathogenic
22	50464273	TG	T	G50464276T	SBF1	NM_002972.4(SBF1):c.1749+55del	noncoding	Benign
22	50464920	A	AG	C50464922G	SBF1	NM_002972.4(SBF1):c.1333-4dup	noncoding	Benign
22	50467016	CG	C	G50467019C	SBF1	NM_002972.4(SBF1):c.550-307del	noncoding	Benign
22	50474592	CT	C	T50474593C	SBF1	NM_002972.4(SBF1):c.55+193del	noncoding	Benign
22	50474965	CGCG	C	G50474992C	SBF1	NM_002972.4(SBF1):c.-152CGC[8]	noncoding	Benign
22	50474965	CGCGGCGGCG	C	G50474986C	SBF1	NM_002972.4(SBF1):c.-152CGC[6]	noncoding	Benign
22	50524395	C	CTGAGTCACTGCTGCATGCT	G50524396T	NCAPH2;SCO2;TYMP	NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA:p.Arg6fs	coding	Pathogenic/Likely_pathogenic
22	50525589	C	CGCAG	G50525596A	SCO2;TYMP	NM_005138.3(SCO2):c.-135_-132dup	noncoding	Benign/Likely_benign
22	50525867	TGCGGGCCGCTGAGCGCGGGGCC	T	C50525869T	TYMP	NM_001953.5(TYMP):c.1330_1351del:p.Gly444fs	coding	Pathogenic
22	50526076	T	TA	G50526077A	TYMP	NM_001953.5(TYMP):c.1224_1225insT:p.Ser409Ter	coding	Pathogenic
22	50526097	GCAGCAC	G	A50526102G	TYMP	NM_001953.5(TYMP):c.1198_1203del:p.Val400_Leu401del	coding	Pathogenic
22	50526152	A	AG	C50526157G	TYMP	NM_001953.5(TYMP):c.1160-12dup	coding	Benign
22	50526231	T	TC	G50526237C	TYMP	NM_001953.5(TYMP):c.1159+14dup	noncoding	Benign
22	50526251	GCGGGCGCCAGCAGCTCCTCCTGCTCC	G	C50526259G	TYMP	NM_001953.5(TYMP):c.1128_1153del:p.Glu377fs	coding	Pathogenic
22	50526342	C	CG	A50526346G	TYMP	NM_001953.5(TYMP):c.1062dup:p.Gly355fs	coding	Pathogenic
22	50526566	T	TC	T50526572C	TYMP	NM_001953.5(TYMP):c.928+9dup	noncoding	Benign
22	50526641	T	TCC	A50526644C	TYMP	NM_001953.5(TYMP):c.861_862dup:p.Glu288fs	coding	Pathogenic
22	50526646	C	CA	T50526647A	TYMP	NM_001953.5(TYMP):c.857_858insT:p.Glu286fs	coding	Pathogenic
22	50527200	TG	T	G50527204A	TYMP	NM_001953.5(TYMP):c.729del:p.Asn244fs	coding	Pathogenic
22	50527235	A	AC	A50527238C	TYMP	NM_001953.5(TYMP):c.694dup:p.Val232fs	coding	Pathogenic
22	50529222	GCTGGCGCCAGGCCT	G	G50529228C	TYMP	NM_001953.5(TYMP):c.317_330del:p.Glu106fs	coding	Pathogenic
22	50529347	TG	T	G50529352T	TYMP	NM_001953.5(TYMP):c.215-10del	noncoding	Benign
22	50529689	CG	C	G50529693T	TYMP	NM_001953.5(TYMP):c.20del:p.Pro7fs	coding	Pathogenic
22	50579272	A	AC	A50579277C	CHKB	NM_005198.5(CHKB):c.1114-18dup	noncoding	Benign
22	50579790	CCTTT	C	C50579795G	CHKB	NM_005198.5(CHKB):c.964_967del:p.Lys322fs	coding	Pathogenic
22	50580199	T	TG	A50580200G	CHKB	NM_005198.5(CHKB):c.808_809insC:p.Tyr270fs	coding	Pathogenic
22	50581537	GT	G	T50581541C	CHKB	NM_005198.5(CHKB):c.463del:p.Thr155fs	coding	Pathogenic
22	50583192	C	CCGGCGGGG	C50583215G	CHKB	NR_021492.2(CHKB-DT):n.174GGCGGCGG[3]	noncoding	Benign
22	50625337	AC	A	C50625343A	ARSA	NM_000487.6(ARSA):c.1337del:p.Gly446fs	coding	Pathogenic/Likely_pathogenic
22	50625445	GGT	G	G50625446A	ARSA	NM_000487.6(ARSA):c.1228_1229del:p.Thr410fs	coding	Pathogenic
22	50625446	G	GT	A50625448T	ARSA	NM_000487.6(ARSA):c.1228dup:p.Thr410fs	coding	Pathogenic
22	50625471	AG	A	G50625476C	ARSA	NM_000487.6(ARSA):c.1211-8del	noncoding	Benign
22	50625565	CG	C	G50625569A	ARSA	NM_000487.6(ARSA):c.1210+13del	noncoding	Benign
22	50625652	CG	C	G50625655T	ARSA	NM_000487.6(ARSA):c.1136del:p.Pro379fs	coding	Pathogenic
22	50625934	AC	A	C50625936T	ARSA	NM_000487.6(ARSA):c.1107+1del	noncoding	Pathogenic/Likely_pathogenic
22	50626012	GC	G	C50626013T	ARSA	NM_000487.6(ARSA):c.1030del:p.Ala344fs	coding	Pathogenic
22	50626237	AGACCG	A	C50626240G	ARSA	NM_000487.6(ARSA):c.891_895del:p.Gly298fs	coding	Pathogenic
22	50626434	A	AC	T50626436C	ARSA	NM_000487.6(ARSA):c.854+156dup	noncoding	Benign
22	50626900	G	GA	G50626904A	ARSA	NM_000487.6(ARSA):c.617dup:p.Ala207fs	coding	Pathogenic
22	50626935	AG	A	G50626941C	ARSA	NM_000487.6(ARSA):c.582del:p.Trp195fs	coding	Pathogenic
22	50627212	TG	T	G50627219C	ARSA	NM_000487.6(ARSA):c.418del:p.His140fs	coding	Pathogenic/Likely_pathogenic
22	50627328	GC	AA	G50627328A	ARSA	NM_000487.6(ARSA):c.302_303delinsTT:p.Gly101Val	coding	Pathogenic
22	50627335	C	CG	A50627339G	ARSA	NM_000487.6(ARSA):c.295dup:p.Arg99fs	coding	Pathogenic/Likely_pathogenic
22	50627358	AG	A	G50627361T	ARSA	NM_000487.6(ARSA):c.272del:p.Pro91fs	coding	Pathogenic
22	50627543	GC	G	C50627548T	ARSA	NM_000487.6(ARSA):c.224+12del	noncoding	Benign
22	50627567	GCA	G	C50627570G	ARSA	NM_000487.6(ARSA):c.211_212del:p.Cys71fs	coding	Pathogenic/Likely_pathogenic
22	50627570	CAG	C	G50627574C	ARSA	NM_000487.6(ARSA):c.208_209del:p.Leu70fs	coding	Pathogenic
22	50627593	CTG	C	T50627596A	ARSA	NM_000487.6(ARSA):c.185_186del:p.Thr62fs	coding	Pathogenic
22	50627615	CGCCAGCTG	C	C50627617T	ARSA	NM_000487.6(ARSA):c.157_164del:p.Gln53fs	coding	Pathogenic
22	50627766	GC	G	C50627771A	ARSA	NM_000487.6(ARSA):c.13del:p.Ala5fs	coding	Pathogenic
22	50628181	CGGGGCGGGGCCG	C	G50628214C	ARSA	Single_allele	noncoding	Benign
22	50628181	CGGGGCGGGGCCGGGGGCGGGGCCG	C	G50628202C	ARSA	Single_allele	noncoding	Benign
22	50628192	CG	C	G50628197C	ARSA	Single_allele	noncoding	Benign
22	50628192	CGGGGGCGGGGCCG	C	G50628197C	ARSA	Single_allele	noncoding	Benign
22	50628204	CG	C	G50628209C	ARSA	Single_allele	noncoding	Benign
22	50674573	CCG	C	C50674580G	SHANK3	NM_001372044.2(SHANK3):c.160_165=:p.Arg54_Ala55=	noncoding	Benign
22	50675534	C	CAGTGTGTGCAGT	G50675535A	SHANK3	NM_001372044.2(SHANK3):c.494+283_494+284insAGTGTGTGCAGT	noncoding	Benign
22	50679146	TG	T	G50679150A	SHANK3	NM_001372044.2(SHANK3):c.957del:p.Ile320fs	coding	Pathogenic
22	50697269	T	TG	C50697278G	SHANK3	NM_001372044.2(SHANK3):c.1530-280dup	noncoding	Benign/Likely_benign
22	50704961	CAGGTGAACG	C	A50704962G	SHANK3	NM_001372044.2(SHANK3):c.2087-2_2093del	noncoding	Pathogenic
22	50705875	C	CCCCCA	G50705877C	SHANK3	NM_001372044.2(SHANK3):c.2220-196_2220-195insCCCAC	noncoding	Benign
22	50714964	CCAGA	C	G50714967T	SHANK3	NM_001372044.2(SHANK3):c.2410_2413del:p.Asp804fs	coding	Pathogenic
22	50715763	C	CGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGG	C50715804T	SHANK3	NM_001372044.2(SHANK3):c.2540+50_2540+51insTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGG	noncoding	Benign
22	50720814	CG	C	G50720817T	SHANK3	NM_001372044.2(SHANK3):c.3209del:p.Gly1070fs	coding	Pathogenic
22	50720857	GT	G	T50720859C	SHANK3	NM_001372044.2(SHANK3):c.3251del:p.Phe1084fs	coding	Pathogenic
22	50720995	CG	C	G50720996A	SHANK3	NM_001372044.2(SHANK3):c.3388del:p.Glu1130fs	coding	Pathogenic
22	50721472	C	CG	C50721474G	SHANK3	NM_001372044.2(SHANK3):c.3865dup:p.Ala1289fs	coding	Pathogenic
22	50721553	CCCCATGCAGTCAG	C	C50721555G	SHANK3	NM_001372044.2(SHANK3):c.3947_3959del:p.Pro1316fs	coding	Pathogenic
22	50721557	ATGCAGTCAGCGGC	A	C50721560T	SHANK3	NM_001372044.2(SHANK3):c.3952_3964del:p.Gln1318fs	coding	Pathogenic
22	50721603	A	AGCCCC	C50721609G	SHANK3	NM_001372044.2(SHANK3):c.3996_4000dup:p.Pro1334fs	coding	Pathogenic
22	50722005	AACTC	A	C50722009G	SHANK3	NM_001372044.2(SHANK3):c.4401_4404del:p.Asp1469fs	coding	Pathogenic
22	50730725	T	TTCAGC	A50730731T	SHANK3	NM_001372044.2(SHANK3):c.4835_4839dup:p.Leu1615fs	coding	Pathogenic
22	50730897	CGG	C	G50730902C	SHANK3	NM_001372044.2(SHANK3):c.5011_5012del:p.Gly1671fs	coding	Pathogenic
MT	6002	AAGCCTCCTTATTCGAGCCGAGCTGGGCCAGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCCCATGCATTTGTAATAATCTTCTTCATAGTAATACCCATCATAATCGGAGGCTTTGGCAACTGACTAGTTCCCCTAATAATCGGTGCCCCCGATATGGCGTTTCCCCGCATAAACAACATAAGCTTCTGACTCTTACCTCCCTCTCTCCTACTCCTGCTCGCATCTGCTATAGTGGAGGCCGGAGCAGGAACAGGTTGAACAGTCTACCCTCCCTTAGCAGGGAACTACTCCCACCCTGGAGCCTCCGTAGACCTAACCATCTTCTCCTTACACCTAGCAGGTGTCTCCTCTATCTTAGGGGCCATCAATTTCATCACAACAATTATCAATATAAAACCCCCTGCCATAACCCAATACCAAACGCCCCTCTTCGTCTGATCCGTCCTAATCACAGCAGTCCTACTTCTCCTATCTCTCCCAGTCCTAGCTGCTGGCATCACTATACTACTAACAGACCGCAACCTCAACACCACCTTCTTCGACCCCGCCGGAGGAGGAGACCCCATTCTATACCAACACCTATTCTGATTTTTCGGTCACCCTGAAGTTTATATTCTTATCCTACCAGGCTTCGGAATAATCTCCCATATTGTAACTTACTACTCCGGAAAAAAAGAACCATTTGGATACATAGGTATGGTCTGAGCTATGATATCAATTGGCTTCCTAGGGTTTATCGTGTGAGCACACCATATATTTACAGTAGGAATAGACGTAGACACACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCCCACCGGCGTCAAAGTATTTAGCTGACTCGCCACACTCCACGGAAGCAATATGAAATGATCTGCTGCAGTGCTCTGAGCCCTAGGATTCATCTTTCTTTTCACCGTAGGTGGCCTGACTGGCATTGTATTAGCAAACTCATCACTAGACATCGTACTACACGACACGTACTACGTTGTAGCCCACTTCCACTATGTCCTATCAATAGGAGCTGTATTTGCCATCATAGGAGGCTTCATTCACTGATTTCCCCTATTCTCAGGCTACACCCTAGACCAAACCTACGCCAAAATCCATTTCACTATCATATTCATCGGCGTAAATCTAACTTTCTTCCCACAACACTTTCTCGGCCTATCCGGAATGCCCCGACGTTACTCGGACTACCCCGATGCATACACCACATGAAACATCCTATCATCTGTAGGCTCATTCATTTCTCTAACAGCAGTAATATTAATAATTTTCATGATTTGAGAAGCCTTCGCTTCGAAGCGAAAAGTCCTAATAGTAGAAGAACCCTCCATAAACCTGGAGTGACTATATGGATGCCCCCCACCCTACCACACATTCGAAGAACCCGTATACATAAAATCTAGACAAAAAAGGAAGGAATCGAACCCCCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTTTTTCAAAAAGGTATTAGAAAAACCATTTCATAACTTTGTCAAAGTTAAATTATAGGCTAAATCCTATATATCTTAATGGCACATGCAGCGCAAGTAGGTCTACAAGACGCTACTTCCCCTATCATAGAAGAGCTTATCACCTTTCATGATCACGCCCTCATAATCATTTTCCTTATCTGCTTCCTAGTCCTGTATGCCCTTTTCCTAACACTCACAACAAAACTAACTAATACTAACATCTCAGACGCTCAGGAAATAGAAACCGTCTGAACTATCCTGCCCGCCATCATCCTAGTCCTCATCGCCCTCCCATCCCTACGCATCCTTTACATAACAGACGAGGTCAACGATCCCTCCCTTACCATCAAATCAATTGGCCACCAATGGTACTGAACCTACGAGTACACCGACTACGGCGGACTAATCTTCAACTCCTACATACTTCCCCCATTATTCCTAGAACCAGGCGACCTGCGACTCCTTGACGTTGACAATCGAGTAGTACTCCCGATTGAAGCCCCCATTCGTATAATAATTACATCACAAGACGTCTTGCACTCATGAGCTGTCCCCACATTAGGCTTAAAAACAGATGCAATTCCCGGACGTCTAAACCAAACCACTTTCACCGCTACACGACCGGGGGTATACTACGGTCAATGCTCTGAAATCTGTGGAGCAAACCACAGTTTCATGCCCATCGTCCTAGAATTAATTCCCCTAAAAATCTTTGAAATAGGGCCCGTATTTACCCTATAGCACCCCCTCTACCCCCTCTAGAGCCCACTGTAAAGCTAACTTAGCATTAACCTTTTAAGTTAAAGATTAAGAGAACCAACACCTCTTTACAGTGAAATGCCCCAACTAAATACTACCGTATGGCCCACCATAATTACCCCCATACTCCTTACACTATTCCTCATCACCCAACTAAAAATATTAAACACAAACTACCACCTACCTCCCTCACCAAAGCCCATAAAAATAAAAAATTATAACAAACCCTGAGAACCAAAATGAACGAAAATCTGTTCGCTTCATTCATTGCCCCCACAATCCTAGGCCTACCCGCCGCAGTACTGATCATTCTATTTCCCCCTCTATTGATCCCCACCTCCAAATATCTCATCAACAACCGACTAATCACCACCCAACAATGACTAATCAAACTAACCTCAAAACAAATGATAACCATACACAACACTAAAGGACGAACCTGATCTCTTATACTAGTATCCTTAATCATTTTTATTGCCACAACTAACCTCCTCGGACTCCTGCCTCACTCATTTACACCAACCACCCAACTATCTATAAACCTAGCCATGGCCATCCCCTTATGAGCGGGCACAGTGATTATAGGCTTTCGCTCTAAGATTAAAAATGCCCTAGCCCACTTCTTACCACAAGGCACACCTACACCCCTTATCCCCATACTAGTTATTATCGAAACCATCAGCCTACTCATTCAACCAATAGCCCTGGCCGTACGCCTAACCGCTAACATTACTGCAGGCCACCTACTCATGCACCTAATTGGAAGCGCCACCCTAGCAATATCAACCATTAACCTTCCCTCTACACTTATCATCTTCACAATTCTAATTCTACTGACTATCCTAGAAATCGCTGTCGCCTTAATCCAAGCCTACGTTTTCACACTTCTAGTAAGCCTCTACCTGCACGACAACACATAATGACCCACCAATCACATGCCTATCATATAGTAAAACCCAGCCCATGACCCCTAACAGGGGCCCTCTCAGCCCTCCTAATGACCTCCGGCCTAGCCATGTGATTTCACTTCCACTCCATAACGCTCCTCATACTAGGCCTACTAACCAACACACTAACCATATACCAATGATGGCGCGATGTAACACGAGAAAGCACATACCAAGGCCACCACACACCACCTGTCCAAAAAGGCCTTCGATACGGGATAATCCTATTTATTACCTCAGAAGTTTTTTTCTTCGCAGGATTTTTCTGAGCCTTTTACCACTCCAGCCTAGCCCCTACCCCCCAATTAGGAGGGCACTGGCCCCCAACAGGCATCACCCCGCTAAATCCCCTAGAAGTCCCACTCCTAAACACATCCGTATTACTCGCATCAGGAGTATCAATCACCTGAGCTCACCATAGTCTAATAGAAAACAACCGAAACCAAATAATTCAAGCACTGCTTATTACAATTTTACTGGGTCTCTATTTTACCCTCCTACAAGCCTCAGAGTACTTCGAGTCTCCCTTCACCATTTCCGACGGCATCTACGGCTCAACATTTTTTGTAGCCACAGGCTTCCACGGACTTCACGTCATTATTGGCTCAACTTTCCTCACTATCTGCTTCATCCGCCAACTAATATTTCACTTTACATCCAAACATCACTTTGGCTTCGAAGCCGCCGCCTGATACTGGCATTTTGTAGATGTGGTTTGACTATTTCTGTATGTCTCCATCTATTGATGAGGGTCTTACTCTTTTAGTATAAATAGTACCGTTAACTTCCAATTAACTAGTTTTGACAACATTCAAAAAAGAGTAATAAACTTCGCCTTAATTTTAATAATCAACACCCTCCTAGCCTTACTACTAATAATTATTACATTTTGACTACCACAACTCAACGGCTACATAGAAAAATCCACCCCTTACGAGTGCGGCTTCGACCCTATATCCCCCGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTATTACCTTCTTATTATTTGATCTAGAAATTGCCCTCCTTTTACCCCTACCATGAGCCCTACAAACAACTAACCTGCCACTAATAGTTATGTCATCCCTCTTATTAATCATCATCCTAGCCCTAAGTCTGGCCTATGAGTGACTACAAAAAGGATTAGACTGAACCGAATTGGTATATAGTTTAAACAAAACGAATGATTTCGACTCATTAAATTATGATAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATTGTGCCTATTGCCATACTAGTCTTTGCCGCCTGCGAAGCAGCGGTGGGCCTAGCCCTACTAGTCTCAATCTCCAACACATATGGCCTAGACTACGTACATAACCTAAACCTACTCCAATGCTAAAACTAATCGTCCCAACAATTATATTACTACCACTGACATGACTTTCCAAAAAACACATAATTTGAATCAACACAACCACCCACAGCCTAATTATTAGCATCATCCCTCTACTATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACCCCCTAACAACCCCCCTCCTAATACTAACTACCTGACTCCTACCCCTCACAATCATGGCAAGCCAACGCCACTTATCCAGTGAACCACTATCACGAAAAAAACTCTACCTCTCTATACTAATCTCCCTACAAATCTCCTTAATTATAACATTCACAGCCACAGAACTAATCATATTTTATATCTTCTTCGAAACCACACTTATCCCCACCTTGGCTATCATCACCCGATGAGGCAACCAGCCAGAACGCCTGAACGCAGGCACATACTTCCTATTCTACACCCT	A	C6005T	covers_13_genes,_none_of_which_curated_to_show_dosage_sensitivity	NC_012920.1:m.6003_11220del5218	noncoding	Pathogenic
X	630957	C	CGGCGGA	C630975A	SHOX	NM_000451.4(SHOX):c.66AGGCGG[3]:p.Gly27_Gly28dup	coding	Pathogenic
X	630994	AT	A	T630996A	SHOX	NM_000451.4(SHOX):c.99del:p.Thr34fs	coding	Pathogenic
X	631076	CG	C	G631078A	SHOX	NM_000451.4(SHOX):c.181del:p.Glu61fs	coding	Pathogenic
X	641058	AT	A	T641059G	SHOX	NM_000451.4(SHOX):c.605del:p.Met202fs	coding	Pathogenic
X	644428	C	CGCACCCGCACCT	G644454C	SHOX	NM_000451.4(SHOX):c.673CACCCGCACCTG[3]:p.225HPHL[3]	coding	Pathogenic
X	644428	CGCACCCGCACCT	C	C644442G	SHOX	NM_000451.4(SHOX):c.673CACCCGCACCTG[1]:p.225HPHL[1]	coding	Pathogenic
X	644558	CA	C	A644562G	SHOX	NM_000451.4(SHOX):c.805del:p.Ser269fs	coding	Pathogenic
X	1282599	A	AT	C1282601T	CSF2RA	NM_172245.4(CSF2RA):c.-26-78dup	noncoding	Benign
X	1285838	A	AT	A1285842T	CSF2RA	NM_172245.4(CSF2RA):c.140dup:p.Leu47fs	coding	Pathogenic
X	1288903	CAT	C	A1288904G	CSF2RA	NM_172245.4(CSF2RA):c.473+16_473+17del	noncoding	Benign
X	1290408	AC	A	C1290410T	CSF2RA	NM_172245.4(CSF2RA):c.547del:p.Leu183fs	coding	Pathogenic
X	1300599	A	AGC	T1300602G	CSF2RA	NM_172245.4(CSF2RA):c.920_921dup:p.Ser308fs	coding	Pathogenic
X	2875684	CTA	C	A2875686C	GYG2	NM_001079855.2(GYG2):c.1039-124_1039-123del	noncoding	Benign
X	2938380	T	TTC	G2938400C	ARSL	NM_000047.3(ARSL):c.1127-141GA[10]	noncoding	Benign
X	2958384	CA	C	A2958387C	ARSL	NM_000047.3(ARSL):c.74del:p.Leu25fs	coding	Pathogenic
X	2960320	G	GAGAAAGAA	G2960343A	ARSL	NM_000047.3(ARSL):c.23+38TTCT[7]	noncoding	Benign
X	2960320	G	GAGAA	G2960343A	ARSL	NM_000047.3(ARSL):c.23+38TTCT[6]	noncoding	Benign
X	2960404	G	GTC	A2960416C	ARSL	NM_000047.3(ARSL):c.-14GA[6]	coding	Benign
X	6029682	C	CTA	C6029692A	NLGN4X	NM_181332.3(NLGN4X):c.473-258TA[5]	noncoding	Benign
X	6151132	T	TG	C6151138G	NLGN4X	NM_181332.3(NLGN4X):c.334dup:p.Gln112fs	coding	Pathogenic
X	7257828	TTG	T	T7257841C	STS	NM_001320752.2(STS):c.382+241TG[6]	noncoding	Benign
X	7275929	C	CT	G7275947T	STS	NM_001320752.2(STS):c.807-5dup	noncoding	Benign
X	8531911	CTAATTTGTAGCATAAAACATTTCCAAAAAGTAAGATATACTAGATTTGAAAGCATATGGGTGAATTAAATGCAAATAACTGTCCTTCTCTATCAATCAAAGGAATTTTTAAAACATTACCAATAATATTCTAGCACACAAAGACCTTTCTTTGATTAAGAAAAGGCAAATCTCTGCAAAGATTTAAACATGCTCAATAGTTGGGATTTTTTCATTTGAAGCAAGAAGTTTTGTGAATTTTCAGATGGTGAAACAAAAGTGCACCAAAAGCTATTATCTGCATTGAGGAAAATAAGGGAAAATATAAATAAGATAACATATCAGGAAAATCTCTCACATAATAGGATCAAATATTAAAAGGCATCCCCAAGAAATAATTTTCATTTCTCCAAGGTAAAATCTGATTAGCAGCTTATTTCATTGAGTTCCTCTGGCTTGGGTGTCTTTTGTAAATCATAATTTATAGAGGGAACTTTGATTTACCTTTGCATAAAGAGCAGCACAAGGTACTTAAAGTAGGAGCATTTTTAGATTTAAATTCGCTGGTATATTTTAGATTACACATTTTCATTTAAAAATCACCTAGGATAAAAATGATCTTAGGAAAGATTCAAAAAAACAAAGCTGTGTAATCTTAGTTGATTTTTCATATCGAATCAATAATTTAGTCAAAAATATATTTTATTGATTAGATTTACGCTTAGTGTTATGTGTGAATTGTGTATTTGTTACTCTCCTTTTTGGGGCGGAGTTTGGTGCTCCAAATTCAGGGAAAACTGAGTTCTGTTGTAATTCAATAGAAATGAGCGACACCATACATGAAAACAAAATTTAGCATTAAACAGGCCTATTCTTCATTTTCTCCATGCTTGTAGGGAACTGGTGTCTGTCTTCACCAATCTACTGTTTCTCACTTGTCTCCAGATGCGTCCATGATTGACAGAAGTTCTTCCTGCACTAAAGTCACATAGGAGAGTCCGGGCCTCTGAGCAGTTCCCACTGCCTCTGGAAGTGTGCATGTCTCGTGGCCGAAGTTCAACAAGCTTACACATCTGTGCAATTTCACAAAATCTTTTTGAACAGTTTAGTATCTTTCTGGAGAAGGCTTGTAATGATGTGGATGACGATGCTTAAGATGAGATCCTAAAAAGTGACAAAATATGTCAGTCACATCCATTTGTATGTATCAAATAAATGATAGAATTACCTTTATTTGTAGAAAAAGCACGAGACCCTGGCAAATGTTCCTTCCTATGACCATGTCTTTCCTATTCTGAATCTGAATGTACAACCACACTCTTTCTCTCCTTTTCCTGTTTTTCTCTTCCTCTTTGATGTCTTCCCAAACTATAAAATAACAAGAAAAAGAAGACAAGCTCCTTTCCTTAAGCTCACACTTATCCAATCAAACCATAATCCTTTTTTATTTGCTCAAAGAAGTTTAAAAATTATCAAATACTTCTGTTAAAAGGAATTTCTATGAAGGAATATCAGAAAAGCATTTATCTGACAAAAATTTTAGAGGCTATCAAGCTCTCCCATTGTGATAGTTTTTGTTTTTCTTCAAATTATAAGCATACCAAGTTATCAATTATAAGCATACCAATCTATCATTTAAAAAAATCAGAGTTAAAACTATGACTAATTCTCAATGTTTTGTCCACACACTAGTCATCAGACACTTTTTTAAAAAATTTAAGCTAGAAAATAAAGTAAACGAAGTACATAATTTAAAAATCAGCAAGAGGCTGTTTTGAAAATCTAGGTGACAATTTTCTTTTTAAATTTTACTTGATTTAGCAATAAATGAAGTAGGTGGACTTGGGTCATATCATGAAGAAAATTCATAATATTTATTACAGTAATATCTATGTAACAAGAACATAAGTTCCTTAGCAAAATATTATTTCCTATATTGTGATATATGAAAATCTTGATTTAAAAATATTTCAGATATGAGACTACAGATTTTTTTCCCATATGTATTTATGGTTTAAAAGACAAGGAAAAAAGCATGCATTACATAGGGGAAAATGCAAGGAAGGAAAAAAAAAACAAAGGAAGGATAGAGGAAAGGAGAAAAGAAGAGAGGGAAGAATGAAGGAGGGAGGGAGAGAGGATGGAGAAAGGAAACAAGGAAGGAGCAAAGAAAGGGAGAAAAGCGGGGAAGAGGGAGGGAGGGAGAAAAAGAACAATTAAGCATCAACTATGCAATGTATACTACAGGTGCCTGGAATAGAATCTAGTAAGTCGGTACAAACAGGGAGAAAGAATTTCAGATGATGACAATTTCCCTATCTCATAGAAACCTGTACTAGTGTATTTATTTGTTTTCATTTTCCAGCAAGATTTTTCTCTATGTCCACAAGACCTGACAGGATGGCTTAATGCCCTGGCACCCCACTCACTGTGTGCTGAAGAGGGTGGGAGCTCCGGCGTCCGGAACGTCTTGATGGTGGCCGGCCCCTCCCCTCCTGGGGTCAGCACTTGCACTTCCAGTCGGTAAAGAGTAGATGGTCTCAGATTGGGCACTGTTAGGACATAATGATCCTAAGGGGACAACATAAAAGAGCATGCTCACCGACAACCTTTCAGAGACAACATGCAATGCACAGAGAGCCTAGAACAGTTTTTCCCCCACTGGAGAATATCATACACAGGCAAGTTTGGTTGCTTTGTAAAGGCATAGTTTAATTTATAGACTATTTCTCATTTGTGGGGGTTCTCTGCCATATGGTTTCTTAGCACCTCACTCAATTCTTGGCAGCCTAAGACACTTGGCAGAGTTAAAATATGCTGAGGTGCCAGTTCTCAGGGCTCACTCCTGGGATTTTATTTATTTTTTTAATTCCTTAACGTAAAACTTTCCCATGGTTTAAAGTCTTCAGCTGCACATCTTGTGATGTGAACTCTTGATAGTCCAAATTTCAGTGAATGAGCCAACTGTTTTTCTTAAAACACAGTATCTGTCAATGCCCATAACTGAAAATGTTTATTTTTATGCCAACATATTCTTCTCAAAACTCAATAAAACCTAGTACATTTATAGAATAACTACTCTCTAATTCCATGGAATTTTTCCTTCTGAGATTTAAGTTGTGTTTCTTTCCCTCTCTGCCCCTCTTTTTGGATTTTGTAACGGTAGTTGGCTATTCTAAGGGCATTTTCAGAGAGGGTAAAATCCCACACATGATTTTTTTTTTTTTTTTTTGAAGCCAAGGAATTAAGTGGCCTGGAAGACAGGCCAACTCATTACAGCCTCGAGCCAA	C	T8531912A	ANOS1	NM_000216.4(ANOS1):c.1842+412_*1083del	noncoding	Pathogenic
X	8533991	AAAG	A	A8533996G	ANOS1	NM_000216.4(ANOS1):c.1984+325_1984+327del	noncoding	Benign
X	8534180	AG	A	G8534181A	ANOS1	NM_000216.4(ANOS1):c.1984+138del	noncoding	Benign
X	8534412	GG	AA	G8534412A	ANOS1	NM_000216.4(ANOS1):c.1890_1891delinsTT:p.Arg631Ter	coding	Pathogenic
X	8534440	C	CA	C8534442A	ANOS1	NM_000216.4(ANOS1):c.1862dup:p.Pro622fs	coding	Pathogenic
X	8535449	AG	A	G8535450A	ANOS1	NM_000216.4(ANOS1):c.1842+141del	noncoding	Benign
X	8585291	TG	T	G8585296C	ANOS1	NM_000216.4(ANOS1):c.831del:p.Ser278fs	coding	Pathogenic
X	8585348	AC	A	C8585350A	ANOS1	NM_000216.4(ANOS1):c.774del:p.Trp258fs	coding	Pathogenic
X	8623385	AT	A	T8623396G	ANOS1	NM_000216.4(ANOS1):c.318+222del	noncoding	Benign
X	8623750	GT	G	T8623752G	ANOS1	NM_000216.4(ANOS1):c.256-81del	noncoding	Benign
X	8731833	GA	G	A8731835G	ANOS1	NM_000216.4(ANOS1):c.203del:p.Phe68fs	coding	Pathogenic
X	8731855	ATGCGAGTGATC	A	G8731859A	ANOS1	NM_000216.4(ANOS1):c.171_181del:p.Gln57fs	coding	Pathogenic
X	9739670	C	CCG	T9739673C	GPR143	NM_000273.3(GPR143):c.933_934dup:p.Gly312fs	coding	Pathogenic
X	9741335	TACCATAATAA	T	A9741341G	GPR143	NM_000273.3(GPR143):c.878_885+2del	noncoding	Pathogenic
X	9741456	C	CTGTT	A9741461T	GPR143	NM_000273.3(GPR143):c.768-5_768-2dup	coding	Benign
X	9743562	TACCAAATAATTAAA	T	A9743567G	GPR143	NM_000273.3(GPR143):c.756_767+2del	noncoding	Pathogenic
X	9743654	TC	T	C9743656T	GPR143	NM_000273.3(GPR143):c.677del:p.Gly226fs	coding	Pathogenic
X	9746149	C	CA	C9746151A	GPR143	NM_000273.3(GPR143):c.552dup:p.Glu185Ter	coding	Pathogenic
X	9748601	G	GAAGGGTAGTA	C9748602A	GPR143	NM_000273.3(GPR143):c.520_521insTACTACCCTT:p.Ala174fs	coding	Pathogenic
X	9759344	GA	G	A9759345T	GPR143	NM_000273.3(GPR143):c.442del:p.Ser148fs	coding	Pathogenic
X	9760820	AC	T	A9760820T	GPR143	NM_000273.3(GPR143):c.256_257delinsA:p.Val86fs	coding	Pathogenic
X	9765568	CCAGGCAGCCGAGAAGGTCG	C	C9765577G	GPR143	NM_000273.3(GPR143):c.231_249del:p.Cys77fs	coding	Pathogenic
X	9765568	C	CCAGGCAGCCGAGAAGGTCG	G9765596C	GPR143	NM_000273.3(GPR143):c.231_249dup:p.Gly84fs	coding	Pathogenic
X	9765585	TCGCAGGCAGCGGCAGCG	T	C9765592A	GPR143	NM_000273.3(GPR143):c.216_232del:p.Ala73fs	coding	Pathogenic
X	9765619	AGGCCGGCGGGGACGTCGCGGGGGACCCGGGGCCCGCG	A	G9765629C	GPR143	NM_000273.3(GPR143):c.162_198del:p.Ala55fs	coding	Pathogenic
X	9765629	GGA	G	G9765630C	GPR143	NM_000273.3(GPR143):c.187_188del:p.Ser63fs	coding	Pathogenic
X	9765685	GGCCCAGC	G	C9765689A	GPR143	NM_000273.3(GPR143):c.126_132del:p.Leu43fs	coding	Pathogenic
X	9765758	G	GAGCTGCGT	G9765767A	GPR143	NM_000273.3(GPR143):c.52_59dup:p.Val21fs	coding	Pathogenic
X	9765781	TGGGGCAGCAGAAGGTCCCTAGGCGC	T	C9765786A	GPR143	NM_000273.3(GPR143):c.12_36del:p.Leu6fs	coding	Pathogenic/Likely_pathogenic
X	10185070	TGATGGATTTCCTC	T	G10185075A	CLCN4	NM_001830.4(CLCN4):c.43_55del:p.Asp15fs	coding	Pathogenic
X	10195314	CAT	C	T10195330C	CLCN4	NM_001830.4(CLCN4):c.432+217AT[7]	noncoding	Benign
X	10197998	A	AT	G10198004T	CLCN4	NM_001830.4(CLCN4):c.497dup:p.Leu166fs	coding	Pathogenic
X	10198076	A	AT	G10198084T	CLCN4	NM_001830.4(CLCN4):c.555+22dup	noncoding	Benign
X	10212837	G	GCACACACACACACACACACA	G10212840C	CLCN4	NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACA	noncoding	Benign
X	10212837	G	GCACACACACACACACACA	G10212840C	CLCN4	NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACA	noncoding	Benign
X	10212837	G	GCA	G10212840C	CLCN4	NM_001830.4(CLCN4):c.1576+185_1576+186dup	noncoding	Benign
X	10213814	C	CATCT	C10213820T	CLCN4	NM_001830.4(CLCN4):c.1712_1715dup:p.Glu573fs	coding	Pathogenic
X	10454886	TGACCACTTCCCAATAATGCC	T	A10454888G	MID1	NM_000381.4(MID1):c.1619_1638del:p.Arg540fs	coding	Pathogenic
X	10454900	T	TAATGCCGGCCACTATCAATAAACA	C10454925A	MID1	NM_000381.4(MID1):c.1601_1624dup:p.His541_Tyr542insLeuPheIleAspSerGlyArgHis	coding	Pathogenic
X	10469361	G	GA	C10469364A	MID1	NM_000381.4(MID1):c.1285+334dup	coding	Benign
X	10474822	AG	A	G10474823A	MID1	NM_000381.4(MID1):c.1014-73del	noncoding	Benign
X	10482514	G	GCGCATGAT	A10482524G	MID1	NM_000381.4(MID1):c.971_978dup:p.Arg327fs	coding	Pathogenic
X	10523173	ACT	A	C10523178A	MID1	NM_000381.4(MID1):c.673_674del:p.Glu224_Ser225insTer	coding	Pathogenic
X	10523193	CA	C	A10523209G	MID1	NM_000381.4(MID1):c.661-7del	noncoding	Benign
X	10523193	C	CAA	G10523210A	MID1	NM_000381.4(MID1):c.661-22_661-21dup	noncoding	Benign
X	10566905	GCTCA	G	C10566910A	MID1	NM_000381.4(MID1):c.639_642del:p.Glu214fs	coding	Pathogenic
X	10567834	AT	A	T10567844C	MID1	NM_000381.4(MID1):c.-56-232del	noncoding	Benign
X	11762834	CAGTT	C	T11762838G	MSL3	NM_078629.4(MSL3):c.590_593del	noncoding	Pathogenic
X	11765526	CAG	C	A11765531T	MSL3	NM_078629.4(MSL3):c.973_974del:p.Gln326fs	coding	Pathogenic
X	11768622	CAAGG	C	A11768627G	MSL3	NM_078629.4(MSL3):c.1226_1229del:p.Glu409fs	coding	Pathogenic
X	11771906	AAAGGACTAAAGAACCTAAACAGTTACAGTTATTTATAGAGAATAACTGTTGCGAGTTAAGAAATTAAAGACTTTCTTGATCTATTTTAAGTGTTTTTGCCTTTCATCTTTGTTTTTTGTAAGCTTGTGTTTATTTTGATCCAATCACTTATTTTTTCCCCTCTACGTACAATTTACTGTCATAATTGTTAGGTGGTTGGAAGTGTCTCCATTAAGAATAACAAAAGCATTCAATTCGTGCTTTTTCCAGGTCCTCTCCTGGAAGCTTGTGCCTGACAATTACCCCCCAGGTGACCAGCCGCCTCCACCCTCTTACATTTATGGGGCACAACATTTGCTGCGATTGTTTGGTAAGAATCCTGGTTCCTGCCTTCTTTCCATTTTTCATTTTGTATTCTCTTGTTAGCTTTCTGTACACCTTGTGGTTTGGGCTATAATTATCTAACTAAGAAATTTGGGGATCCAAGAAAAATTAAAAGTAATCTATCAAAGAAAAGGCATTGAATGAATCTTAAATTTCATAAAAATTATGTTTGTAATATTTGTACTGCTACTCTGTCTT	A	A11771907T	MSL3	NM_078629.4(MSL3):c.1282-249_1382-154del	noncoding	Pathogenic
X	13714143	GA	G	A13714163C	TRAPPC2	NM_001011658.4(TRAPPC2):c.*263del	noncoding	Benign
X	13714143	G	GAA	C13714164A	TRAPPC2	NM_001011658.4(TRAPPC2):c.*262_*263dup	noncoding	Benign
X	13716800	C	CTTTG	A13716807T	TRAPPC2	NM_001011658.4(TRAPPC2):c.94-126_94-123dup	noncoding	Benign
X	13719809	TC	T	C13719810T	TRAPPC2	NM_001011658.4(TRAPPC2):c.93+61del	noncoding	Benign
X	13736303	CA	C	A13736306G	OFD1	NM_003611.3(OFD1):c.112-172del	noncoding	Benign
X	13739012	CT	C	T13739013G	OFD1	NM_003611.3(OFD1):c.393del:p.Asp132fs	coding	Pathogenic
X	13739296	C	CA	C13739315A	OFD1	NM_003611.3(OFD1):c.412+282dup	noncoding	Benign
X	13744532	TT	GC	T13744532G	OFD1	NM_003611.3(OFD1):c.517+13_517+14delinsGC	noncoding	Benign
X	13746925	CCCTTGAAAGAATTCACAAG	C	C13746927A	OFD1	NM_003611.3(OFD1):c.802_820del:p.Leu268fs	coding	Pathogenic
X	13749121	CA	C	A13749140T	OFD1	NM_003611.3(OFD1):c.829-287del	noncoding	Benign
X	13749121	C	CA	T13749141A	OFD1	NM_003611.3(OFD1):c.829-287dup	noncoding	Benign
X	13749140	AT	A	T13749147A	OFD1	NM_003611.3(OFD1):c.829-280del	noncoding	Benign
X	13749500	CAG	C	A13749503C	OFD1	NM_003611.3(OFD1):c.905_906del:p.Glu302fs	coding	Pathogenic
X	13751474	GA	G	A13751486C	OFD1	NM_003611.3(OFD1):c.1055+118del	noncoding	Benign
X	13753425	TGAAAG	T	A13753429G	OFD1	NM_003611.3(OFD1):c.1117_1121del:p.Arg373fs	coding	Pathogenic
X	13756718	TAAAC	T	A13756721C	OFD1	NM_003611.3(OFD1):c.1365_1368del:p.Lys455fs	coding	Pathogenic
X	13757584	C	CT	G13757586T	OFD1	NM_003611.3(OFD1):c.1412-75dup	noncoding	Benign
X	13757633	AT	A	T13757649A	OFD1	NM_003611.3(OFD1):c.1412-11del	noncoding	Benign
X	13761108	T	TC	A13761114C	OFD1	NM_003611.3(OFD1):c.2289dup:p.Ser764fs	coding	Pathogenic
X	13761290	A	AT	G13761303T	OFD1	NM_003611.3(OFD1):c.2387+91dup	noncoding	Benign
X	13761290	A	ATT	G13761303T	OFD1	NM_003611.3(OFD1):c.2387+90_2387+91dup	noncoding	Benign
X	13762452	CAAATAT	C	T13762458C	OFD1	NM_003611.3(OFD1):c.2488+14_2488+19del	noncoding	Benign
X	13767270	CTG	C	G13767272A	OFD1	NM_003611.3(OFD1):c.2745_2746del:p.Tyr916fs	coding	Pathogenic
X	13767444	G	GA	G13767448A	OFD1	NM_003611.3(OFD1):c.2757+163dup	noncoding	Benign
X	13768157	G	GT	G13768159T	OFD1	NM_003611.3(OFD1):c.2862dup:p.Glu955Ter	coding	Pathogenic
X	13768800	TAC	T	A13768805T	OFD1	NM_003611.3(OFD1):c.2996+16AC[2]	noncoding	Benign
X	14850349	C	CA	C14850358A	FANCB	NM_001018113.3(FANCB):c.1496+148dup	noncoding	Benign
X	14850676	T	TA	G14850687A	FANCB	NM_001018113.3(FANCB):c.1327-12dup	noncoding	Benign/Likely_benign
X	15845525	GA	G	A15845535G	AP1S2	NM_001272071.2(AP1S2):c.289-10del	noncoding	Benign
X	15852346	C	CT	G15852351T	AP1S2	NM_001272071.2(AP1S2):c.178dup:p.Arg60fs	coding	Pathogenic
X	17375806	CGGCG	C	G17375807C	NHS	NM_001291867.2(NHS):c.50_53del:p.Arg17fs	coding	Pathogenic
X	17692233	CT	C	T17692247A	NHS	NM_001291867.2(NHS):c.719-88del	noncoding	Benign
X	17692233	CTT	C	T17692246A	NHS	NM_001291867.2(NHS):c.719-89_719-88del	noncoding	Benign
X	17692376	G	GC	T17692383C	NHS	NM_001291867.2(NHS):c.766dup:p.Leu256fs	coding	Pathogenic
X	17724424	GA	G	A17724427T	NHS	NM_001291867.2(NHS):c.1237del:p.Glu412_Ile413insTer	coding	Pathogenic
X	17728080	CTCAG	C	T17728085A	NHS	NM_001291867.2(NHS):c.3979_3982del:p.Ser1327fs	coding	Pathogenic
X	17728549	C	CTGTT	C17728578T	NHS	NM_001291867.2(NHS):c.4223-99TGTT[8]	noncoding	Benign
X	18507446	C	CT	A18507466T	CDKL5	NM_001323289.2(CDKL5):c.64+305dup	noncoding	Benign
X	18564479	AAC	A	C18564483T	CDKL5	NM_001323289.2(CDKL5):c.106_107del:p.Thr35_His36insTer	coding	Pathogenic
X	18564524	T	TAG	T18564528G	CDKL5	NM_001323289.2(CDKL5):c.145+4_145+5dup	noncoding	Benign
X	18564526	GATATATATATAT	G	A18564539C	CDKL5	NM_001323289.2(CDKL5):c.145+5AT[6]	noncoding	Benign/Likely_benign
X	18564526	GATAT	G	A18564547C	CDKL5	NM_001323289.2(CDKL5):c.145+5AT[10]	noncoding	Benign
X	18564526	G	GATAT	C18564551A	CDKL5	NM_001323289.2(CDKL5):c.145+5AT[14]	noncoding	Benign
X	18575362	GAA	G	A18575363G	CDKL5	NM_001323289.2(CDKL5):c.155_156del:p.Glu52fs	coding	Pathogenic
X	18579872	AT	A	T18579873G	CDKL5	NM_001323289.2(CDKL5):c.308del:p.Met103fs	coding	Pathogenic
X	18579910	CATCT	C	T18579914A	CDKL5	NM_001323289.2(CDKL5):c.349_352del:p.Tyr117fs	coding	Pathogenic
X	18581933	TA	T	A18581937C	CDKL5	NM_001323289.2(CDKL5):c.450del:p.Lys150fs	coding	Pathogenic
X	18588063	AC	A	C18588064T	CDKL5	NM_001323289.2(CDKL5):c.665del:p.Thr222fs	coding	Pathogenic
X	18595350	TC	T	C18595352A	CDKL5	NM_001323289.2(CDKL5):c.749del:p.Pro250fs	coding	Pathogenic
X	18598480	CCAGCTGACAGAT	A	C18598480A	CDKL5	NM_001323289.2(CDKL5):c.844_856delinsA:p.Pro282_Tyr286delinsAsn	coding	Pathogenic
X	18598540	CT	C	T18598542C	CDKL5	NM_001323289.2(CDKL5):c.906del:p.Leu303fs	coding	Pathogenic
X	18603914	C	CAA	G18603919A	CDKL5	NM_001323289.2(CDKL5):c.993_994dup:p.Ser332fs	coding	Pathogenic
X	18603931	AG	A	G18603932T	CDKL5	NM_001323289.2(CDKL5):c.1008del:p.Gln336fs	coding	Pathogenic
X	18603934	C	CT	C18603936T	CDKL5	NM_001323289.2(CDKL5):c.1011dup:p.His338fs	coding	Pathogenic
X	18603976	T	TAGGC	C18603981A	CDKL5	NM_001323289.2(CDKL5):c.1053_1056dup:p.Leu353fs	coding	Pathogenic
X	18603987	C	CG	C18603991G	CDKL5	NM_001323289.2(CDKL5):c.1066dup:p.Ala356fs	coding	Pathogenic
X	18604341	AT	A	T18604343C	CDKL5	NM_001323289.2(CDKL5):c.1419del:p.Gln475fs	coding	Pathogenic
X	18604369	AC	A	C18604370A	CDKL5	NM_001323289.2(CDKL5):c.1446del:p.Ser481_Tyr482insTer	coding	Pathogenic
X	18604374	ACCAAGG	A	G18604379A	CDKL5	NM_001323289.2(CDKL5):c.1455_1460del:p.Ala486_Lys487del	coding	Benign
X	18604506	A	AC	A18604509C	CDKL5	NM_001323289.2(CDKL5):c.1584dup:p.Ser529fs	coding	Pathogenic
X	18604533	GAC	G	A18604536G	CDKL5	NM_001323289.2(CDKL5):c.1612_1613del:p.Thr538fs	coding	Pathogenic
X	18604608	AC	A	C18604610A	CDKL5	NM_001323289.2(CDKL5):c.1686del:p.Arg563fs	coding	Pathogenic
X	18604610	C	CTA	A18604611T	CDKL5	NM_001323289.2(CDKL5):c.1686_1687insTA:p.Arg563Ter	coding	Pathogenic
X	18604817	AG	A	G18604820C	CDKL5	NM_001323289.2(CDKL5):c.1896del:p.Gln633fs	coding	Pathogenic
X	18604961	A	AT	C18604962T	CDKL5	NM_001323289.2(CDKL5):c.1944+93_1944+94insT	noncoding	Benign
X	18605104	C	CT	C18605116T	CDKL5	NM_001323289.2(CDKL5):c.1944+247dup	noncoding	Benign
X	18608839	CTG	C	T18608842G	CDKL5	NM_001323289.2(CDKL5):c.1976_1977del:p.Val659fs	coding	Pathogenic
X	18608858	CAA	C	A18608860G	CDKL5	NM_001323289.2(CDKL5):c.1994_1995del:p.Lys665fs	coding	Pathogenic
X	18609487	ACT	A	C18609490G	CDKL5	NM_001323289.2(CDKL5):c.2072_2073del:p.His690_Ser691insTer	coding	Pathogenic
X	18609509	CA	C	A18609512G	CDKL5	NM_001323289.2(CDKL5):c.2094del:p.Glu699fs	coding	Pathogenic
X	18609518	T	TA	G18609520A	CDKL5	NM_001323289.2(CDKL5):c.2101dup:p.Arg701fs	coding	Pathogenic
X	18613093	T	TA	G18613115A	CDKL5	NM_001323289.2(CDKL5):c.2153-38dup	noncoding	Benign
X	18613199	A	ACTAG	A18613204C	CDKL5	NM_001323289.2(CDKL5):c.2201_2204dup:p.Arg735delinsSerTer	coding	Pathogenic
X	18613214	CT	C	T18613215A	CDKL5	NM_001323289.2(CDKL5):c.2216del:p.Leu739fs	coding	Pathogenic
X	18613221	CAG	C	A18613226C	CDKL5	NM_001323289.2(CDKL5):c.2227_2228del:p.Ser743fs	coding	Pathogenic
X	18625212	TG	T	G18625214C	CDKL5	NM_001323289.2(CDKL5):c.2463del:p.Trp821fs	coding	Pathogenic
X	18628450	T	TCCAG	C18628457A	CDKL5	NM_001323289.2(CDKL5):c.2579_2582dup:p.Leu862fs	coding	Pathogenic
X	18628475	CA	C	A18628480T	CDKL5	NM_001323289.2(CDKL5):c.2606del:p.Asn869fs	coding	Pathogenic
X	18628509	CT	C	T18628510G	CDKL5	NM_001323289.2(CDKL5):c.2636del:p.Leu879fs	coding	Pathogenic
X	18628566	AGG	A	G18628567C	CDKL5	NM_001323289.2(CDKL5):c.2693_2694del:p.Arg898fs	coding	Pathogenic
X	18628694	CT	C	T18628695A	CDKL5	NM_001323289.2(CDKL5):c.2821del:p.Tyr941fs	noncoding	Pathogenic
X	18641857	TA	T	A18641870T	RS1	NM_000330.4(RS1):c.*146del	coding	Benign
X	18642041	CG	C	G18642043A	RS1	NM_000330.4(RS1):c.637del:p.Arg213fs	coding	Pathogenic
X	18642097	G	GA	T18642099A	RS1	NM_000330.4(RS1):c.581dup:p.Ile195fs	coding	Pathogenic
X	18642105	GC	AA	G18642105A	RS1	NM_000330.4(RS1):c.573_574delinsTT:p.Pro192Ser	coding	Pathogenic
X	18644470	A	AG	C18644473G	RS1	NM_000330.4(RS1):c.481dup:p.Leu161fs	coding	Pathogenic
X	18644487	G	GT	A18644489T	RS1	NM_000330.4(RS1):c.464dup:p.Tyr155Ter	coding	Pathogenic
X	18644535	CT	C	T18644536G	RS1	NM_000330.4(RS1):c.416del:p.Gln139fs	coding	Pathogenic
X	18644579	T	TCCACTGGCTA	T18644581C	CDKL5;RS1	NM_000330.4(RS1):c.372_373insTAGCCAGTGG:p.Ile125Ter	coding	Pathogenic
X	18644597	T	TTGGAGAGCCAGGCACAC	G18644598T	RS1	NM_000330.4(RS1):c.354_355insGTGTGCCTGGCTCTCCA:p.Ser119fs	coding	Pathogenic
X	18647479	CTG	C	G18647483C	RS1	NM_000330.4(RS1):c.185-149_185-148del	noncoding	Benign
X	18656655	GGTAT	G	G18656656A	RS1	NM_000330.4(RS1):c.178_181del:p.Ile60fs	coding	Pathogenic
X	18656656	GTA	G	T18656659C	RS1	NM_000330.4(RS1):c.179_180del:p.Ile60fs	coding	Pathogenic
X	18656673	G	GTGGC	A18656678T	RS1	NM_000330.4(RS1):c.160_163dup:p.Thr55fs	coding	Pathogenic
X	18656673	GT	G	T18656674G	RS1	NM_000330.4(RS1):c.163del:p.Thr55fs	coding	Pathogenic
X	18672042	C	CA	G18672048A	RS1	NM_000330.4(RS1):c.26dup:p.Leu9fs	coding	Pathogenic
X	18895141	T	TCGGGTC	G18895148C	PHKA2	NM_000292.3(PHKA2):c.3327_3332dup:p.Arg1111_Glu1112insThrArg	coding	Pathogenic
X	18895148	GT	G	T18895149C	PHKA2	NM_000292.3(PHKA2):c.3325del:p.Thr1109fs	coding	Pathogenic
X	18895177	G	GGA	C18895184G	PHKA2	NM_000292.3(PHKA2):c.3295_3296dup:p.Ile1100fs	coding	Pathogenic
X	18901007	A	AT	A18901028T	PHKA2	NM_000292.3(PHKA2):c.3028-328dup	noncoding	Benign
X	18907140	GAT	G	T18907142C	PHKA2	NM_000292.3(PHKA2):c.2518-45_2518-44del	noncoding	Benign
X	18907907	A	AGGACCTCCACTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTATCTCATTTTATTGTTATTTTTTTTTTTTTTTTTTTATTATAATATAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATTTATACAT	C18907924T	PHKA2	NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC:p.Leu837delinsHisValTer	coding	Pathogenic
X	18908037	TTG	T	G18908041C	PHKA2	NM_000292.3(PHKA2):c.2378_2379del:p.Thr793fs	coding	Pathogenic
X	18911010	CT	C	T18911023G	PHKA2	NM_000292.3(PHKA2):c.2138-51del	noncoding	Benign
X	18940005	GTTTTATAA	G	T18940006C	PHKA2	NM_000292.3(PHKA2):c.900_907del:p.Tyr301fs	coding	Pathogenic
X	18952329	CA	C	A18952351G	PHKA2	NM_000292.3(PHKA2):c.285+164del	noncoding	Benign
X	19003041	AGA	CAGAGCAATCCACGAGT	A19003041C	ADGRG2	NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG:p.Val678fs	coding	Pathogenic
X	19343709	CG	C	G19343714C	PDHA1	Single_allele	noncoding	Benign
X	19355529	GGGCCAA	G	C19355544G	PDHA1	NM_000284.4(PDHA1):c.759+26GGCCAA[2]	noncoding	Benign
X	19355529	GGGCCAAGGCCAA	G	C19355538G	PDHA1	NM_000284.4(PDHA1):c.759+34_759+45del	noncoding	Benign
X	19355529	G	GGGCCAA	G19355550C	PDHA1	NM_000284.4(PDHA1):c.759+26GGCCAA[4]	noncoding	Benign/Likely_benign
X	19358912	A	ATAGT	C19358919G	PDHA1	NM_000284.4(PDHA1):c.900-1_902dup	noncoding	Pathogenic
X	19359005	C	CCAGTGTGGAAGAA	T19359020A	PDHA1	NM_000284.4(PDHA1):c.991_1003dup:p.Leu335fs	coding	Pathogenic
X	19359471	C	CTGTT	A19359476T	PDHA1	NM_000284.4(PDHA1):c.1009-17_1009-14dup	noncoding	Benign
X	19359472	TGTTACCTAATTTTTAGGA	T	G19359473A	PDHA1	NM_000284.4(PDHA1):c.1009-16_1010del	noncoding	Pathogenic
X	19359512	G	GGA	T19359517G	PDHA1	NM_000284.4(PDHA1):c.1035_1036dup:p.Ile346fs	coding	Pathogenic
X	19359611	TCGTGGTGC	T	G19359613A	PDHA1	NM_000284.4(PDHA1):c.1133_1140del:p.Arg378fs	coding	Pathogenic
X	19359636	TTTAAGTCAGTCAG	T	T19359642G	PDHA1	NM_000284.4(PDHA1):c.1162_*1del:p.Ser388fs	coding	Pathogenic
X	19359941	CCCAGCCA	C	A19359944T	PDHA1	NM_000284.4(PDHA1):c.*291_*297del	noncoding	Benign
X	20164922	TG	T	G20164923T	RPS6KA3	NM_004586.3(RPS6KA3):c.1740del:p.Cys579_Tyr580insTer	coding	Pathogenic
X	20172732	T	TA	T20172741A	RPS6KA3	NM_004586.3(RPS6KA3):c.1353+13dup	noncoding	Benign
X	20175234	CTA	C	T20175235A	RPS6KA3	NM_004586.3(RPS6KA3):c.1155_1156del:p.Phe385fs	coding	Pathogenic
X	20175238	AC	A	C20175243G	RPS6KA3	NM_004586.3(RPS6KA3):c.1152del:p.Phe385fs	coding	Pathogenic
X	20176361	GA	G	A20176371G	RPS6KA3	NM_004586.3(RPS6KA3):c.1000-10del	noncoding	Benign
X	20177150	CTTAAA	C	T20177156C	RPS6KA3	NM_004586.3(RPS6KA3):c.846-71_846-67del	noncoding	Benign
X	20186069	ACT	A	C20186070G	RPS6KA3	NM_004586.3(RPS6KA3):c.845+225_845+226del	noncoding	Benign
X	20187828	CATTA	C	T20187830C	RPS6KA3	NM_004586.3(RPS6KA3):c.770_773del:p.Leu257fs	coding	Pathogenic
X	20187861	C	CT	G20187863T	RPS6KA3	NM_004586.3(RPS6KA3):c.740dup:p.Ser248fs	coding	Pathogenic
X	20188484	A	AT	A20188495T	RPS6KA3	NM_004586.3(RPS6KA3):c.631+12dup	noncoding	Benign
X	20204084	A	AT	A20204092T	RPS6KA3	NM_004586.3(RPS6KA3):c.262dup:p.Ile88fs	coding	Pathogenic
X	20204095	TA	T	A20204097G	RPS6KA3	NM_004586.3(RPS6KA3):c.251del:p.Phe83_Leu84insTer	coding	Pathogenic
X	20209627	GTTA	G	T20209632A	RPS6KA3	NM_004586.3(RPS6KA3):c.127-226_127-224del	noncoding	Benign
X	21532043	AG	A	G21532044A	CNKSR2	NM_014927.5(CNKSR2):c.1280del:p.Arg427fs	coding	Pathogenic
X	21532055	A	AC	A21532060C	CNKSR2	NM_014927.5(CNKSR2):c.1295dup:p.Thr433fs	coding	Pathogenic
X	21590610	GA	G	A21590615C	CNKSR2	NM_014927.5(CNKSR2):c.1652del:p.Asn551fs	coding	Pathogenic
X	21601291	CAG	C	G21601293A	CNKSR2	NM_014927.5(CNKSR2):c.1988_1989del:p.Arg663fs	coding	Pathogenic
X	21839193	GTA	G	A21839213T	MBTPS2	Single_allele	noncoding	Benign
X	21940650	A	AG	C21940652G	SMS	Single_allele	noncoding	Benign
X	21979188	C	CT	A21979200T	SMS	NM_004595.5(SMS):c.750+233dup	noncoding	Benign
X	22033040	GAA	G	A22033042G	PHEX	NM_000444.6(PHEX):c.37_38del:p.Lys13fs	coding	Pathogenic
X	22033403	AT	A	T22033409A	PHEX	NM_000444.6(PHEX):c.118+286del	noncoding	Benign
X	22038473	T	TCAAGGTCTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	A22038485T	PHEX	NM_000444.6(PHEX):c.134_135insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGTCTCTT:p.Leu45fs	coding	Pathogenic
X	22038490	T	TC	A22038493C	PHEX	NM_000444.6(PHEX):c.142dup:p.Gln48fs	coding	Pathogenic
X	22038510	T	TG	C22038512G	PHEX	NM_000444.6(PHEX):c.161dup:p.Cys54fs	coding	Pathogenic
X	22047062	T	TA	G22047065A	PHEX	NM_000444.6(PHEX):c.202dup:p.Ser68fs	coding	Pathogenic
X	22047086	ATCCTTGTGATAATT	A	C22047089T	PHEX	NM_000444.6(PHEX):c.227_240del:p.Pro76fs	coding	Pathogenic
X	22047176	CT	C	T22047178G	PHEX	NM_000444.6(PHEX):c.316del:p.Trp106fs	coding	Pathogenic
X	22076399	AAATC	A	A22076405G	PHEX	NM_000444.6(PHEX):c.367_370del:p.Ile123fs	coding	Pathogenic/Likely_pathogenic
X	22076443	C	CA	T22076448A	PHEX	NM_000444.6(PHEX):c.409dup:p.Ile137fs	coding	Pathogenic
X	22076449	C	CCTTTATT	A22076458T	PHEX	NM_000444.6(PHEX):c.413_419dup:p.Ser141fs	coding	Pathogenic
X	22076459	TC	T	C22076461T	PHEX	NM_000444.6(PHEX):c.423del:p.Cys142fs	coding	Pathogenic
X	22077481	AT	A	T22077483G	PHEX	NM_000444.6(PHEX):c.444del:p.Ile148fs	coding	Pathogenic
X	22077493	G	GA	T22077495A	PHEX	NM_000444.6(PHEX):c.455dup:p.Asp152fs	coding	Pathogenic
X	22077506	TG	T	G22077507C	PHEX	NM_000444.6(PHEX):c.468del:p.Leu157fs	coding	Pathogenic
X	22077506	T	TG	C22077508G	PHEX	NM_000444.6(PHEX):c.468dup:p.Leu157fs	coding	Pathogenic
X	22077570	AG	A	G22077574T	PHEX	NM_000444.6(PHEX):c.535del:p.Val179fs	coding	Pathogenic
X	22077585	G	GAGAAA	G22077591A	PHEX	NM_000444.6(PHEX):c.547_551dup:p.Phe185fs	coding	Pathogenic
X	22077590	AG	A	G22077591T	PHEX	NM_000444.6(PHEX):c.552del:p.Lys184fs	coding	Pathogenic
X	22077604	CAG	C	G22077606C	PHEX	NM_000444.6(PHEX):c.567_568del:p.Gln189fs	coding	Pathogenic
X	22077624	TG	T	G22077626T	PHEX	NM_000444.6(PHEX):c.587del:p.Gly196fs	coding	Pathogenic
X	22077631	T	TA	C22077633A	PHEX	NM_000444.6(PHEX):c.593dup:p.Tyr198Ter	coding	Pathogenic
X	22077650	TC	T	C22077652G	PHEX	NM_000444.6(PHEX):c.613del:p.Arg205fs	coding	Pathogenic
X	22077653	GTT	G	T22077655G	PHEX	NM_000444.6(PHEX):c.616_617del:p.Leu206fs	coding	Pathogenic
X	22077681	A	AT	C22077683T	PHEX	NM_000444.6(PHEX):c.643dup:p.Ser215fs	coding	Pathogenic
X	22077689	AACAT	A	C22077691T	PHEX	NM_000444.6(PHEX):c.652_655del:p.His218fs	coding	Pathogenic
X	22090426	CAGCTGGACCA	C	T22090430A	PHEX	NM_000444.6(PHEX):c.665_674del	noncoding	Pathogenic
X	22090437	AG	A	G22090438C	PHEX	NM_000444.6(PHEX):c.673del:p.Ala225fs	coding	Pathogenic
X	22090477	AACAGT	A	T22090482A	PHEX	NM_000444.6(PHEX):c.717_721del:p.Ser239fs	coding	Pathogenic
X	22090483	AC	A	C22090484A	PHEX	NM_000444.6(PHEX):c.719del:p.Thr240fs	coding	Pathogenic
X	22090497	TGTAA	T	A22090500T	PHEX	NM_000444.6(PHEX):c.732+3_732+6del	coding	Pathogenic
X	22094056	AT	A	T22094057G	PHEX	NM_000444.6(PHEX):c.807del:p.His269fs	coding	Pathogenic
X	22096956	T	TA	T22096959A	PHEX	NM_000444.6(PHEX):c.853dup:p.Met285fs	coding	Pathogenic
X	22096977	G	GA	C22096980A	PHEX	NM_000444.6(PHEX):c.874dup:p.Thr292fs	coding	Pathogenic
X	22096992	T	TA	G22096993A	PHEX	NM_000444.6(PHEX):c.887_888insA:p.Met296fs	coding	Pathogenic
X	22096999	CA	C	A22097003T	PHEX	NM_000444.6(PHEX):c.898del:p.Lys299_Met300insTer	coding	Pathogenic
X	22097009	AT	A	T22097012C	PHEX	NM_000444.6(PHEX):c.907del:p.Ser303fs	coding	Pathogenic
X	22099010	ACTGG	A	C22099015G	PHEX	NM_000444.6(PHEX):c.943_946del:p.Leu315fs	coding	Pathogenic
X	22099065	AG	A	G22099066A	PHEX	NM_000444.6(PHEX):c.994del:p.Asp332fs	coding	Pathogenic
X	22099113	T	TAAAGATTTGTTAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	T22099125A	PHEX	NM_000444.6(PHEX):c.1052_1053insAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATTTGTT:p.Phe351delinsLeuAspIleProAsnAlaArgTer	coding	Pathogenic
X	22099124	T	TTAGGATATTAGGGTCTGAGAGAAAG	A22099150T	PHEX	NM_000444.6(PHEX):c.1053_1077dup:p.Lys360Ter	coding	Pathogenic
X	22099130	TA	T	A22099131T	PHEX	NM_000444.6(PHEX):c.1059del:p.Ile353_Leu354insTer	coding	Pathogenic
X	22099149	GAAGT	G	T22099153A	PHEX	NM_000444.6(PHEX):c.1079+2_1079+5del	coding	Pathogenic
X	22111521	TAGCAGGCGCTTTC	T	C22111524T	PHEX	NM_000444.6(PHEX):c.1137_1149del:p.Arg380fs	coding	Pathogenic
X	22111524	CA	C	A22111525G	PHEX	NM_000444.6(PHEX):c.1138del:p.Arg380fs	coding	Pathogenic
X	22111554	CT	C	T22111555C	PHEX	NM_000444.6(PHEX):c.1168del:p.Ser390fs	coding	Pathogenic
X	22114465	AG	A	G22114469A	PHEX	NM_000444.6(PHEX):c.1185del:p.Thr396fs	coding	Pathogenic
X	22114488	CA	C	A22114490T	PHEX	NM_000444.6(PHEX):c.1206del:p.Gln402fs	coding	Pathogenic
X	22114491	TG	T	G22114494A	PHEX	NM_000444.6(PHEX):c.1210del:p.Asp404fs	coding	Pathogenic
X	22114511	TATTG	T	T22114513A	PHEX	NM_000444.6(PHEX):c.1229_1232del:p.Ile410fs	coding	Pathogenic
X	22114547	GT	G	T22114550G	PHEX	NM_000444.6(PHEX):c.1266del:p.Phe422fs	coding	Pathogenic
X	22133545	T	TCCCACCC	T22133546C	PHEX	NM_000444.6(PHEX):c.1325_1326insCCCACCC:p.Arg443fs	coding	Pathogenic
X	22133556	T	TAATA	T22133557A	PHEX	NM_000444.6(PHEX):c.1336_1337insAATA:p.Phe446Ter	coding	Pathogenic
X	22133602	CGAAAAGGAAAGCCAAA	C	A22133610T	PHEX	NM_000444.6(PHEX):c.1390_1404+1del	coding	Pathogenic
X	22133603	G	GA	G22133608A	PHEX	NM_000444.6(PHEX):c.1387dup:p.Arg463fs	coding	Pathogenic
X	22133615	C	CA	G22133619A	PHEX	NM_000444.6(PHEX):c.1398dup:p.Glu467fs	coding	Pathogenic
X	22133621	AAAGGT	A	T22133626A	PHEX	NM_000444.6(PHEX):c.1404+2_1404+6del	coding	Pathogenic
X	22133643	G	GA	T22133653A	PHEX	NM_000444.6(PHEX):c.1404+28dup	noncoding	Benign
X	22168307	TG	T	G22168308T	PHEX	NM_000444.6(PHEX):c.1405-4del	noncoding	Benign
X	22168350	TATAATGA	T	A22168353G	PHEX	NM_000444.6(PHEX):c.1446_1452del:p.Ile482fs	coding	Pathogenic
X	22168388	C	CT	G22168390T	PHEX	NM_000444.6(PHEX):c.1482dup:p.Ile495fs	coding	Pathogenic
X	22178300	GGCAACGTCCTACAAACTC	G	C22178305G	PHEX	NM_000444.6(PHEX):c.1515_1532del:p.Asn505_Arg510del	coding	Pathogenic
X	22178330	GCA	G	C22178333G	PHEX	NM_000444.6(PHEX):c.1543_1544del:p.Gln515fs	coding	Pathogenic
X	22213132	C	CA	G22213134A	PHEX	NM_000444.6(PHEX):c.1700+175dup	noncoding	Benign
X	22219040	C	CTGAG	T22219046G	PHEX	NM_000444.6(PHEX):c.1707_1710dup:p.Tyr571fs	coding	Pathogenic
X	22219052	GC	G	C22219053T	PHEX	NM_000444.6(PHEX):c.1718del:p.Ala573fs	coding	Pathogenic
X	22219066	TGTCG	T	T22219068A	PHEX	NM_000444.6(PHEX):c.1733_1736del:p.Val578fs	coding	Pathogenic
X	22221655	CT	C	T22221656A	PHEX	NM_000444.6(PHEX):c.1812del:p.Thr605fs	coding	Pathogenic
X	22221660	G	GAATC	G22221666A	PHEX	NM_000444.6(PHEX):c.1818_1821dup:p.Glu608fs	coding	Pathogenic
X	22221666	GAAGAA	G	A22221670T	PHEX	NM_000444.6(PHEX):c.1826_1830del:p.Glu609fs	coding	Pathogenic
X	22221681	GA	G	A22221687C	PHEX	NM_000444.6(PHEX):c.1843del:p.Thr615fs	coding	Pathogenic
X	22221688	CAA	C	A22221691T	PHEX	NM_000444.6(PHEX):c.1847_1848del:p.Lys616fs	coding	Pathogenic
X	22221701	T	TAACC	G22221707A	PHEX	NM_000444.6(PHEX):c.1859_1862dup:p.Tyr622fs	coding	Pathogenic
X	22221716	C	CTATT	A22221721T	PHEX	NM_000444.6(PHEX):c.1873_1876dup:p.Tyr626fs	coding	Pathogenic
X	22221717	T	TATTATTGG	A22221727T	PHEX	NM_000444.6(PHEX):c.1875_1882dup:p.Lys628fs	coding	Pathogenic
X	22226318	T	TTGAA	T22226325A	PHEX	NM_000444.6(PHEX):c.1900-122_1900-119dup	noncoding	Benign
X	22226321	A	AAATG	T22226323A	PHEX	NM_000444.6(PHEX):c.1900-121_1900-120insATGA	noncoding	Benign
X	22226411	AT	A	T22226423C	PHEX	NM_000444.6(PHEX):c.1900-20del	noncoding	Benign
X	22226461	CTGGGAGAAAA	C	G22226463A	PHEX	NM_000444.6(PHEX):c.1920_1929del:p.Gly641fs	coding	Pathogenic
X	22226487	AGGCCTGCGG	A	G22226489A	PHEX	NM_000444.6(PHEX):c.1946_1954del:p.Gly649_Arg651del	coding	Pathogenic
X	22226493	GC	G	C22226494G	PHEX	NM_000444.6(PHEX):c.1951del:p.Arg651fs	coding	Pathogenic
X	22226506	AG	A	G22226509T	PHEX	NM_000444.6(PHEX):c.1965+1del	coding	Pathogenic
X	22227522	A	ATAAAT	G22227528T	PHEX	NM_000444.6(PHEX):c.1982_1986dup:p.Asp663Ter	coding	Pathogenic
X	22227523	TA	T	A22227526T	PHEX	NM_000444.6(PHEX):c.1985del:p.Asn662fs	coding	Pathogenic
X	22227551	GC	G	C22227553T	PHEX	NM_000444.6(PHEX):c.2012del:p.Pro671fs	coding	Pathogenic
X	22227562	CA	C	A22227563G	PHEX	NM_000444.6(PHEX):c.2022del:p.Gly675fs	coding	Pathogenic
X	22227568	T	TCA	T22227573C	PHEX	NM_000444.6(PHEX):c.2030_2031dup:p.Phe678fs	coding	Pathogenic
X	22227583	AC	A	C22227585A	PHEX	NM_000444.6(PHEX):c.2044del:p.Gln682fs	coding	Pathogenic
X	22227597	C	CTGAG	T22227603G	PHEX	NM_000444.6(PHEX):c.2058_2061dup:p.Tyr688fs	coding	Pathogenic
X	22227606	G	GCT	A22227610T	PHEX	NM_000444.6(PHEX):c.2067_2068dup:p.His690fs	coding	Pathogenic
X	22227860	T	TTTGA	A22227866T	PHEX	NM_000444.6(PHEX):c.2070+251_2070+254dup	noncoding	Benign
X	22245329	CTAGG	C	A22245331G	PHEX	NM_000444.6(PHEX):c.2071-2_2072del	noncoding	Pathogenic
X	22245349	ACAGAC	A	C22245354A	PHEX	NM_000444.6(PHEX):c.2092_2096del:p.Pro698fs	coding	Pathogenic
X	22245360	GC	G	C22245361T	PHEX	NM_000444.6(PHEX):c.2099del:p.Ala700fs	coding	Pathogenic
X	22245378	CAA	C	A22245380T	PHEX	NM_000444.6(PHEX):c.2118_2119del:p.Gln706fs	coding	Pathogenic/Likely_pathogenic
X	22245387	GC	G	C22245388T	PHEX	NM_000444.6(PHEX):c.2126del:p.Ala709fs	coding	Pathogenic
X	22245400	CT	C	T22245401C	PHEX	NM_000444.6(PHEX):c.2139del:p.Gln714fs	coding	Pathogenic
X	22245406	TTAGG	T	G22245409A	PHEX	NM_000444.6(PHEX):c.2147_2147+3del	coding	Pathogenic
X	22247849	AG	A	G22247852T	PHEX	NC_000023.10:g.22265967del	noncoding	Pathogenic
X	22247859	G	GTGCA	A22247864T	PHEX	NM_000444.6(PHEX):c.2157_2160dup:p.Ile721fs	coding	Pathogenic
X	22247860	TGCAATTAG	T	G22247861T	PHEX	NM_000444.6(PHEX):c.2158_2165del:p.Gly719_Ala720insTer	coding	Pathogenic
X	22247867	A	AGTAACTTTGAAGAATTCCAG	A22247888G	PHEX	NM_000444.6(PHEX):c.2165_2184dup:p.Lys729fs	coding	Pathogenic
X	22247875	TG	T	G22247876A	PHEX	NM_000444.6(PHEX):c.2173del:p.Glu725fs	coding	Pathogenic
X	23394409	G	GACACACACACACAC	C23394452A	PTCHD1	NM_173495.3(PTCHD1):c.*225AC[28]	noncoding	Benign
X	23394409	G	GACACACACACAC	C23394452A	PTCHD1	NM_173495.3(PTCHD1):c.*225AC[27]	noncoding	Benign
X	23394409	G	GACACACACAC	C23394452A	PTCHD1	NM_173495.3(PTCHD1):c.*225AC[26]	noncoding	Benign
X	23394409	G	GACACAC	C23394452A	PTCHD1	NM_173495.3(PTCHD1):c.*225AC[24]	noncoding	Benign
X	23394409	G	GACAC	C23394452A	PTCHD1	NM_173495.3(PTCHD1):c.*225AC[23]	noncoding	Benign
X	23394409	G	GAC	C23394452A	PTCHD1	NM_173495.3(PTCHD1):c.*225AC[22]	noncoding	Benign
X	23988556	AG	A	G23988557A	KLHL15	NM_030624.3(KLHL15):c.1179del:p.Tyr394fs	coding	Pathogenic
X	24465305	T	TGCTGCTGCG	G24465317T	PDK3	NM_005391.5(PDK3):c.-148_-140dup	noncoding	Benign
X	24498808	C	CT	C24498821T	PDK3	NM_005391.5(PDK3):c.249-9dup	noncoding	Benign/Likely_benign
X	24499044	GT	G	T24499056A	PDK3	NM_005391.5(PDK3):c.320+156del	noncoding	Benign
X	24503048	C	CAG	T24503049A	PDK3	NM_005391.5(PDK3):c.321-279_321-278insAG	noncoding	Benign
X	24518837	GCACACACACACA	G	A24518869G	PDK3	NM_005391.5(PDK3):c.596-95CA[15]	noncoding	Benign
X	24518837	GCACACACACA	G	A24518871G	PDK3	NM_005391.5(PDK3):c.596-95CA[16]	noncoding	Benign
X	24518837	GCACACACA	G	A24518873G	PDK3	NM_005391.5(PDK3):c.596-95CA[17]	noncoding	Benign
X	24518837	GCACACA	G	A24518875G	PDK3	NM_005391.5(PDK3):c.596-95CA[18]	noncoding	Benign
X	24518837	GCACA	G	A24518877G	PDK3	NM_005391.5(PDK3):c.596-95CA[19]	noncoding	Benign
X	24518837	GCA	G	A24518879G	PDK3	NM_005391.5(PDK3):c.596-95CA[20]	noncoding	Benign
X	24527293	GAA	G	A24527307G	PDK3	NM_005391.5(PDK3):c.751-267_751-266del	noncoding	Benign
X	24531778	GT	G	T24531782A	PDK3	NM_005391.5(PDK3):c.1077+12del	noncoding	Benign
X	24732461	A	AT	A24732471T	POLA1	NM_001330360.2(POLA1):c.1771+16dup	noncoding	Benign
X	24733735	A	AT	C24733744T	POLA1	NM_001330360.2(POLA1):c.1772-12dup	noncoding	Benign
X	24735389	T	TA	T24735391A	POLA1	NM_001330360.2(POLA1):c.1834-9dup	noncoding	Benign
X	24821431	CTT	C	T24821436G	POLA1	NM_001330360.2(POLA1):c.3430-16_3430-15del	noncoding	Benign
X	25004209	CACGCTGGGGCCCTCGCTGGGGAGATCAACTTCGAGCGCCAAAATGCTATTTAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGGCTAAGTGGGGTGTCAGGAGGAAGAGGTTGGGCTTTTTAAATTTTTTACTTCAATATCAGGCGTCTGGGGGAGAAAACCTCCCCGATATTTTCAGGAAAGTAAGAACAAGAGAGAGTGGATGTTGGAGTTGGAGCGAGGTTGGCAGTAGCAGGGGCAGGGGCAGGGGCGGGTGGACAGCCAGCCGAGGAGGTGCCACGTCCCGGAGCGCCGAGGGCTGCCATGCCCGCATCCAGACTGCTGTGAAGGCGGCTGCGCTCTCTCAGTGCCGTCTCGGGAGTGTGCTGGTCCTCTGTTTCCATTTGGTCTTGAGTGGTGCTGAGTGAGGTGACCTTTCGGGGCGCGCGCGGGGCGCGGGTGTGGAGGGCAGCCTTTAGCACACCTCCTTGCCCGTGCTGGTGCCCGGCAGGATGTTGAGCTGCGTGAGCTGCGCCGCGTGCTCCTTGGCCTTGAGCCTCAGCGCGGCTATGCTAGAGGCGCGTCTGTCTGCGGCCGCCGTGGCCGGGTCGGCCAGGGCGCCCGATGCCACTGCGCCCTCCACGGCGGGTGTGGGCTGTCTCAGGAGCGCGGCCGCGGTCGACGCGCTGGTCAGGGGGGCCATTGTGGAAAAGAGCCTGCAGGGAGAGCAAACAGCGCGGTCATGGCCTCGGGAGCTGTGCGCGGCGCCTCGGGCAGCGTCTCCCGCCGCTTGTCGCCGGGGCAGCTGAGGGGCGCGGTACCCACGGGACCCGGATGGGCCGCGGCGGGGAAGTGGGCAGAGGGCGCGGGCGGAAGCTGGACCCCGCAGAGAGGGCTTTCCTGGGGCAGGGAACCGACTGGGGGGAAAAGACCGAGTCCAGATATTCCCCGAGGGGCCGGGCCGGGCCGGGGTCCACAGGCCGGCGTGGAGACCTCAAGCCCCACGGCCCAGTGGCGTGGATTCGGTGGTTTCGCTTAAACGGACGGTTTATTCCAAGGCCAGGGGCTGCAATGACACTATCTCCCAGGAGAGAATGCGGAAGGAGAAAAGGAGAGGAGAGCAAAAGAAGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGAGCCCCCGACCCACGACCCTGGCGCGCGGCGCAAGGCGATGCCCAAG	C	A25004210C	ARX	NM_139058.3(ARX):c.1449-816_*460del	noncoding	Pathogenic
X	25004803	T	TCC	G25004805C	ARX	NM_139058.3(ARX):c.1555_1556insGG:p.Asp519fs	coding	Pathogenic
X	25004832	C	CTCCACGG	C25004840T	ARX	NM_139058.3(ARX):c.1520_1526dup:p.Glu509fs	coding	Pathogenic
X	25004886	CA	C	A25004887G	ARX	NM_139058.3(ARX):c.1472del:p.Leu491fs	coding	Pathogenic
X	25004887	AG	A	G25004893C	ARX	NM_139058.3(ARX):c.1471del:p.Pro490_Leu491insTer	coding	Pathogenic
X	25004889	G	GGGGGCCATTGTGGAAAAGAGCCTGCAGGGAGAGCAAACAGCGCGGTCATGGCCTCGGGAGCTGTGCGCGGCGCCTCGGGCAGCGTCTCCCGCCGCTTGTCGCCGGGGCAGCTGAGGGGCGCGGTACCCACGGGACCCGGATGGGCCGCGGCGGGGAAGTGGGCAGAGGGCGCGGGCGGAAGCTGGACCCCGCAGAGAGGGCTTTCCTGGGGCAGGGAACCGACTGGGGGGAAAAGACCGAGTCCAGATATTCCCCGAGGGGCCGGGCCGGGCCGGGGTCCACAGGCCGGCGTGGAGACCTCAAGCCCCACGGCCCAGTGGCGTGGATTCGGTGGTTTCGCTTAAACGGACGGTTTATTCCAAGGCCAGGGGCTGCAATGACACTATCTCCCAGGAGAGAATGCGGAAGGAGAAAAGGAGAGGAGAGCAAAAGAAGGGAAGGTGGAGGGTGGGAGGGGGGAGGAAAAAAAAGACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGAGCCCCCGACCCACGACCCTGGCGCGCGGCGCAAGGCGATGCCCAAGCCTGGGACCCACGCCAGCGCCACCGCCTCCAAGCGGCGACCGAATTACTCCACGTGACGCTTCCACCCCATGCACACAGCACCGGGACATTAGCTGTGGCCGGAGCCGCCCGGGGCCACCGGACACCACCCCCACGCCCACCGCCTTGGAGCGCCCGCGAGCTTTCCCGACCGCCTCCCTGAGGGGTCTGGCTCCAGGCCCGCGGGGCCAATTCCGGATTTCCAGGGTTAGAAATGAGCCCACCTGGGCTCACCGAGCGCCGCCTCCTTCTCCCAAGCCCACTGCTCACTCCTCGCACCACCCCAGCCCAGACCCTCTTCCAGCCTCTCCGAATCTCGCAACTCGGTCCTCCAGCCACGGTTCGCCTGGGTTTACAAGTCACTTGTCAGAGGGAAAAAGTGGAGGGAGGGGAGAGACAGAACTTTAAGATTTTTCTCAGAAAGAAATGATAAAGTGTGACCCGGAGGTGGCGTAACATGCCCTGGTTCCATTAGGTAAACTGAGTCACTAACTCTGCTTCAGTGCGCTCGCTGTTTATTTTATTGGTTTGTTATAAGAAACTAAATTTACTCCGAGTCTTAATTTTCTGTAAGATGATTTTTTGTTAAGCAGCTGCGCAGTTGGATGAATCTATTATTTCTTTGTTCTCCCAAAGAGTGATCATTGAAGCTGCATCCAGTTTTATTTTCACTGCGCTAACACAATACATCCCTCCTTTGTTTCTTTGTCTGTGTGATTATACAGACTTTTTATTTCCTCATTCGATGTTCATTAAAGAAAGGGAGTTATAAGATGAACTGTTTCTTTTATTTCGTTGTCTTGTACTGCCGTGTAGATCGGGGCTTGCACATATGGGGGTGTCGTTGGCAGCGGGTCACTTGAGTGACAAGGAAGATGGAGTCTGGGGCAGAAGAAAGAATTCTGTGCACCCAGAGGGCCTGGTGGCTCCAGGGCTCCCATGGGGATCAGGGCTGTGTTCCTCAGGCTGCCAGGTTGGGGGGCATAAGGAAGAACTTTTGCAAAACTTAAAAAGTCGTCCCTGCTCTGTACCCTACACCTGTACATATTTGCTCGCTTACCACCTATGGTGGGACTTGTTGCAGCCTGCAAATGGTACTTTTACAGCTTTCATTCTCGGTTGTCACGGTTGTCGTTACTGCCACTGCCTTCCCCTTTCCCATTAAGTTCCAAGTCAATACCTTCAAGACCCACATTTTTTTTTTTGAGGCTCAATTAGAGAGTATTTTCTTTGGCTACAGTCTCTGAGGTTGGGTCAAAGAAAAAGATGTGTGTAACCCTGTTTGACTCCTGCCTCCTCCCTGCCCCCAGCCTCTGTGTGTATGAGAGACAGACAGACAGACAGACTTCCGAGGCTGCGCGTTACCTGCCGAATGCCGGGCTGATGAAAGCTGGGTGTCGGAACACTGCCGCTCCGAGGAAAGTGCTCAGGCCCAGCGGCGCCCCGCTGGGCGGCAGGCTGGCCGAGCCCGGAGGCGGAGGTAGGCTCGGGAAGGCGGCGGCGGCGGCGGCGGCAGCGGCAGTCCAAGCGGAGTCGAGCGCCGGGTGGTGCGGAGGGAAGGGGCTGGCGTCCAGGTAGGGGCTGAGCGGGTGGGTGGCGGAGAGCGGCCCCGGGAAGGGCAGCCCAGGGGGGTGGGTCTGCGCGCCTGCCTTCTCCCGCTTGCGCCACTTGGCCCGACGGTTCTGGAACCAGACCTGCAAGGCAGAGAGAGCCCAGGGTCGGCGCGGCTCGGCCCGGCGGGCGCACCGGGCCCCTACCCGTCCCTTCCCTTGGCGC	C25007523G	ARX	NM_139058.3(ARX):c.1120-82_1469dup	coding	Pathogenic
X	25004905	AAGAGCCTGCAGGG	A	C25004911A	ARX	NM_139058.3(ARX):c.1449-8_1453del	coding	Pathogenic
X	25006939	A	AT	G25006951T	ARX	NM_139058.3(ARX):c.1448+161dup	noncoding	Benign
X	25007115	C	CG	A25007117G	ARX	NM_139058.3(ARX):c.1443dup:p.Gly482fs	coding	Pathogenic
X	25007128	GA	G	A25007129T	ARX	NM_139058.3(ARX):c.1430del:p.Ile477fs	coding	Pathogenic
X	25007143	TCGGAACACTG	T	G25007145C	ARX	NM_139058.3(ARX):c.1406_1415del:p.Ala469fs	coding	Pathogenic
X	25007175	GGCCCAGCGGC	G	A25007180C	ARX	NM_139058.3(ARX):c.1374_1383del:p.Ala458_Pro459insTer	coding	Pathogenic/Likely_pathogenic
X	25007332	C	CGGGT	C25007343G	ARX	NM_139058.3(ARX):c.1223_1226dup:p.Leu410fs	coding	Pathogenic
X	25007371	A	AG	T25007378G	ARX	NM_139058.3(ARX):c.1187dup:p.Gly397fs	coding	Pathogenic/Likely_pathogenic
X	25013047	GC	G	C25013050G	ARX	NM_139058.3(ARX):c.947del:p.Gly316fs	coding	Pathogenic
X	25013349	CCGGG	C	C25013350G	ARX	NM_139058.3(ARX):c.642_645del:p.Pro215fs	coding	Pathogenic
X	25013491	G	GCT	A25013495T	ARX	NM_139058.3(ARX):c.502_503dup:p.Ser168fs	coding	Pathogenic
X	25013529	AGGC	A	G25013530C	ARX	NM_139058.3(ARX):c.463_465del:p.Ala155del	coding	Benign
X	25013539	GGCCGCGGCCGCGGCT	G	C25013548G	ARX	NM_139058.3(ARX):c.441_455del:p.Ala151_Ala155del	coding	Benign
X	25013539	GGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGC	G	C25013544T	ARX	NM_139058.3(ARX):c.424_455del:p.Ala142fs	coding	Pathogenic
X	25013543	GCGGCCGCGGCTGCCGCGGCGGCCC	G	G25013545T	ARX	NM_139058.3(ARX):c.428_451del:p.Gly143_Ala150del	coding	Benign/Likely_benign
X	25013659	TGCCGCCGCC	T	C25013683T	ARX	NM_139058.3(ARX):c.306GGC[7]:p.Ala113_Ala115del	coding	Benign/Likely_benign
X	25013671	C	CGCCGCCGCCGCCGCCGCCGCT	A25013698C	ARX	NM_139058.3(ARX):c.303_323dup:p.Ala109_Ala115dup	coding	Pathogenic/Likely_pathogenic
X	25015711	G	GC	T25015715C	ARX	NM_139058.3(ARX):c.26dup:p.Cys10fs	coding	Pathogenic
X	28853134	GA	G	A28853137T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.82+63712del	noncoding	Benign
X	29954441	GA	G	A29954448G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1202-74del	noncoding	Benign
X	29954556	C	CA	G29954560A	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1239dup:p.Val414fs	coding	Pathogenic
X	30304157	ATGTTGGCTAGGTTTTAATAGTTTTTGAGGCCTTACTTAAACCCTGCTGAAGCTTTTTTCAATCAAGTTAATAGTTAAGACCTTAAAATTTATTATAACAATATGTACAAATTTGATTTGAGCAGGTTCCATGAAATTGCTACACTTGTGAAAATAGCTTATTATACTAGTACCCTGCTATTTTTTTTTTAAAAGATGTACAGAGCTATGCTACCTGTTGGCAAATGTCTTCTTTAACTATGGAACAGAGAAATTTGTGACTGTCTGGAATAAAATTATTTCTTTAATTGAATACAAAAATACTCTGCATGTAAAAATATTAAGAAAGTTTATTTTAAAATATTTTACACTCTTTTGCCCACAGCTCTTTATTCTTCCCTCATGGTGAACTGCACTACTGCACTTGTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCCGGCACGTCTGGAGGGAGAAAAATCTCTTTGTTATAAAACAGCTCACCACAGAGTCCTTTGCTAGCTTTTTAAAAATAGCCATTTCTGTTTCATCCCAATTAAACAAGACCCAAAGCTTCCCGGTTAAAAGGGTAAAAGGCCAAACCAGTCTACGTTTTCAGAAGCAACGTGTCCAAGAATGAAACATCATGTGATCTTACTTAATATTTACTATGTTTCTATGCACACGTTTGCAAATACACTGGCCATGAGCCAACAAACGCACACAATTTAATATGACAGTAGAATACGGTTTAATGAATCATCACTCCAGTTCACTTTCTATGCAAATATGAAGAAGTTCATGATATTTCAAGAGGTGGGCACTTTACCTATGAGAAACAAGCCATGATAAACAAGAAGTGTTGCCATGAGACAAATGTTTTTACCATTCTTCTTTGAACTTTCCATCATTACACTGATCGTTCAGCCAATGGTGGTAAACTTCACAGCCACAAACTTTGACGCACAGTTTCATTTTACCTATTTGCCTGCAGGCCAATATTAGTCTAGAGGCCCGAATAATTTGAAAGCTAACACTGGCCACTTAGCTCATTGCACCATGATTTCTGTATTGGGGAAGATTTTGAAAAAAATAAAAGAATGATTCTAATGAGTGTTCAAAAAGGCTCTTTTCAAAAATATTAAAGTAAGAAGTTTTTGAAAATTCTTATAGTCATTAAAAGTTTAAAAAGTAAACATGAAAACATCACGAATTGTACCATGATTCAAGAATAACTTTTGTAATAGAAAACACATGACCTTTTGCAGTATAGTGTGATACCGAAGTAAAAGTGAAAGAAATAAATGCAGGAAAGTTTAAGTGGATGTAAGTTTTTATAAGGAAAGTAATAAGAGGAGGCTGCTTTTGAAGGTCCTTTGATCTTCCATGATGATAATATCGTTGCAAAGTTCTTTAACTTGTATTCAAGTAATTAGCAGTTGACCACTTGGTTTAAATGATGTTAATGATGATTGCAATCATTTTCCTTCCCTTTTCCTAAAAAATTCAACAGAAAAGTATTTTAAAAGCACCATGCCAATCATCACAGAGCAGCAGAACCAGTGTTCTTTAAAAAAATAATAATGGTAATAAGCGAGAGGCACTCCTATTATGGGCGAATATCAAATCTCATAAATAAGAACAAAAATAAAGCAACCATTTTAATCCATATTCCAGTTCTGATTACTCTAGTCCACACATTATCATCCCCTTCTATCTACAGCTTGAGATCCAGGCTTAAGACCCAATTTTGTTGTGTTTGAATTCCATCGATGAAAGTAGGAAGAGGCTTGCATGAAACTCCACCAGAAATCTGAAGCTTCTCTAGGTCTAGATTCATGGCTTGTGAAAACTTCATCTTGTGTATGCCACATTACTTTTCTCTGTGTTCACAATATACCCCTCCACCTTCTCCCCACCCAAGTGGTTCCCCCCCACACAGAGACACACAAACTGGCCTTCAAAATAAGGTCAGGGAAGAGAAAATGCAAATGGACTCCACAGTTTTATATCTCCTTAAGTTTGAACC	TGGAAATTATATATATTTCCAAATAAA	A30304157T	NR0B1	NG_009814.1:g.7992_10222delinsTTTATTTGGAAATATATATAATTTCCA	noncoding	Pathogenic
X	30304336	AT	A	T30304346A	NR0B1	NM_000475.5(NR0B1):c.*242del	noncoding	Benign
X	30304615	AT	C	A30304615C	NR0B1	NM_000475.5(NR0B1):c.1376_1377delinsG:p.Asp459fs	coding	Pathogenic
X	30308194	AC	A	C30308197G	NR0B1	NM_000475.5(NR0B1):c.1168+1del	noncoding	Pathogenic
X	30308362	C	CAGTG	G30308367A	NR0B1	NM_000475.5(NR0B1):c.998_1001dup:p.Pro335fs	coding	Pathogenic
X	30308377	CC	T	C30308377T	NR0B1	NM_000475.5(NR0B1):c.986_987delinsA:p.Gly329fs	coding	Pathogenic
X	30308524	CA	C	A30308525G	NR0B1	NM_000475.5(NR0B1):c.839del:p.Leu280fs	coding	Pathogenic
X	30308598	CG	C	G30308599C	NR0B1	NM_000475.5(NR0B1):c.765del:p.Cys255fs	coding	Pathogenic
X	30309020	AC	A	C30309024G	NR0B1	NM_000475.5(NR0B1):c.343del:p.Val115fs	coding	Pathogenic
X	30309145	G	GTGGT	C30309150T	NR0B1	NM_000475.5(NR0B1):c.215_218dup:p.His73fs	coding	Pathogenic
X	30309207	CCT	C	C30309212G	NR0B1	NM_000475.5(NR0B1):c.155_156del:p.Glu52fs	coding	Pathogenic
X	30653304	A	AC	T30653312C	GK	Single_allele	noncoding	Benign
X	30670598	ATT	A	T30670608C	GK	NM_001205019.2(GK):c.259+2490_259+2491del	noncoding	Benign
X	30700757	G	GAATA	A30700760T	GK	NM_001205019.2(GK):c.784-79_784-78insTAAA	noncoding	Benign
X	30700759	A	AAAAT	C30700764A	GK	NM_001205019.2(GK):c.784-78_784-75dup	noncoding	Benign
X	30724475	GA	G	A30724486T	GK	NM_001205019.2(GK):c.1582+305del	noncoding	Benign
X	30728942	GT	G	T30728956A	GK	NM_001205019.2(GK):c.*214del	noncoding	Benign
X	31121943	GAGAA	G	A31121951C	DMD	NM_004006.3(DMD):c.11047-17_11047-14del	noncoding	Benign
X	31126716	GA	G	A31126724C	DMD	NM_004006.3(DMD):c.11015-44del	noncoding	Benign
X	31126803	GAA	G	A31126823C	DMD	NM_004006.3(DMD):c.11015-132_11015-131del	noncoding	Benign
X	31126803	GA	G	A31126824C	DMD	NM_004006.3(DMD):c.11015-131del	noncoding	Benign
X	31147394	C	CA	T31147397A	DMD	NM_004006.3(DMD):c.10677dup:p.Ala3560fs	coding	Pathogenic
X	31147429	G	GT	G31147431T	DMD	NM_004006.3(DMD):c.10642dup:p.Thr3548fs	coding	Pathogenic
X	31147508	CT	C	T31147510G	DMD	NM_004006.3(DMD):c.10563del:p.Ala3522fs	coding	Pathogenic
X	31147537	TAAAAAAGAAA	T	A31147548G	DMD	NM_004006.3(DMD):c.10554-29_10554-20del	noncoding	Benign/Likely_benign
X	31147550	AAAAG	A	G31147558A	DMD	NM_004006.3(DMD):c.10554-36_10554-33del	noncoding	Benign
X	31169505	GGAAATCA	C	G31169505C	DMD	NM_004006.3(DMD):c.10484_10491delinsG:p.Leu3495fs	coding	Pathogenic
X	31169513	AG	A	G31169514A	DMD	NM_004006.3(DMD):c.10482del:p.Ile3494_Leu3495insTer	coding	Pathogenic
X	31169518	TG	T	G31169521C	DMD	NM_004006.3(DMD):c.10477del:p.Gln3493fs	coding	Pathogenic
X	31169541	CAG	C	A31169542G	DMD	NM_004006.3(DMD):c.10453_10454del:p.Leu3485fs	coding	Pathogenic
X	31169541	C	CA	G31169543A	DMD	NM_004006.3(DMD):c.10454dup:p.Ser3486fs	coding	Pathogenic
X	31169563	C	CT	G31169567T	DMD	NM_004006.3(DMD):c.10432dup:p.Ser3478fs	coding	Pathogenic
X	31173602	G	GGCCT	A31173607G	DMD	NM_004006.3(DMD):c.10263-2_10264dup	coding	Pathogenic
X	31177916	C	CA	G31177924A	DMD	NM_004006.3(DMD):c.10262+15dup	noncoding	Benign
X	31177934	AGAAT	A	G31177935C	DMD	NM_004006.3(DMD):c.10256_10259del:p.Asp3419fs	coding	Pathogenic
X	31177969	G	GA	C31177971A	DMD	NM_004006.3(DMD):c.10224dup:p.Pro3409fs	coding	Pathogenic
X	31177979	C	CA	T31177986A	DMD	NM_004006.3(DMD):c.10224-10dup	noncoding	Benign
X	31178432	G	GT	C31178448T	DMD	NM_004006.3(DMD):c.10223+222dup	coding	Benign
X	31178432	GT	G	T31178447C	DMD	NM_004006.3(DMD):c.10223+236del	coding	Benign
X	31178674	CA	C	A31178675T	DMD	NM_004006.3(DMD):c.10217del:p.Met3406fs	coding	Pathogenic
X	31178711	TAGCC	T	A31178712C	DMD	NM_004006.3(DMD):c.10177_10180del:p.Gly3393fs	coding	Pathogenic
X	31180455	TA	T	A31180457T	DMD	NM_004006.3(DMD):c.10000del:p.Tyr3334fs	coding	Pathogenic
X	31182715	A	AT	G31182726T	DMD	NM_004006.3(DMD):c.9974+22dup	noncoding	Benign
X	31182715	AT	A	T31182725G	DMD	NM_004006.3(DMD):c.9974+22del	noncoding	Benign
X	31182805	CA	C	A31182806G	DMD	NM_004006.3(DMD):c.9906del:p.Ala3303fs	coding	Pathogenic
X	31182810	A	ACT	G31182815C	DMD	NM_004006.3(DMD):c.9900_9901dup:p.Val3301fs	coding	Pathogenic
X	31182858	A	AT	C31182860T	DMD	NM_004006.3(DMD):c.9853dup:p.Met3285fs	coding	Pathogenic
X	31203965	TG	T	G31203967A	DMD	NM_004006.3(DMD):c.9802del:p.Gln3268fs	coding	Pathogenic
X	31204000	GC	G	C31204005A	DMD	NM_004006.3(DMD):c.9767del:p.Gly3256fs	coding	Pathogenic
X	31204000	G	GCCCCCAAAGGATGCAACTT	A31204021C	DMD	NM_004006.3(DMD):c.9749_9767dup:p.Asn3258fs	coding	Pathogenic
X	31204099	T	TC	G31204100C	DMD	NM_004006.3(DMD):c.9668_9669insG:p.Ser3224fs	coding	Pathogenic
X	31206582	ATC	A	C31206584G	DMD	NM_004006.3(DMD):c.9647_9648del:p.Arg3216fs	coding	Pathogenic
X	31206588	ACTTGT	A	G31206592C	DMD	NM_004006.3(DMD):c.9638_9642del:p.Asp3213fs	coding	Pathogenic
X	31206606	CT	C	T31206609A	DMD	NM_004006.3(DMD):c.9624del:p.Ala3209fs	coding	Pathogenic
X	31207387	AAATTT	A	A31207389T	DMD	NM_004006.3(DMD):c.9564-725_9564-721del	noncoding	Benign
X	31209540	CAG	C	A31209545G	DMD	NM_004006.3(DMD):c.9519_9520del:p.Cys3174fs	coding	Pathogenic
X	31209603	CA	C	A31209605T	DMD	NM_004006.3(DMD):c.9457del:p.Cys3153fs	coding	Pathogenic
X	31209662	CA	C	A31209664G	DMD	NM_004006.3(DMD):c.9398del:p.Leu3133fs	coding	Pathogenic
X	31209703	C	CA	C31209710A	DMD	NM_004006.3(DMD):c.9362-10dup	noncoding	Benign
X	31223083	C	CA	G31223085A	DMD	NM_004006.3(DMD):c.9324dup:p.Ala3109fs	coding	Pathogenic
X	31260952	TACCTAAAG	T	C31260955T	DMD	NM_004006.3(DMD):c.9281_9286+2del	noncoding	Pathogenic
X	31260956	TAA	T	A31260958G	DMD	NM_004006.3(DMD):c.9283_9284del:p.Leu3095fs	coding	Pathogenic
X	31267105	G	GAGAAAGAAAGAAAGAA	G31267137A	DMD	NM_004006.3(DMD):c.9225-6117TTCT[11]	noncoding	Benign
X	31267105	G	GAGAA	G31267137A	DMD	NM_004006.3(DMD):c.9225-6117TTCT[8]	noncoding	Benign
X	31323600	G	GAT	G31323606T	DMD	NM_004006.3(DMD):c.9220_9221dup:p.Asn3075fs	coding	Pathogenic
X	31323607	TAGGGC	T	G31323609C	DMD	NM_004006.3(DMD):c.9210_9214del:p.Pro3071fs	coding	Pathogenic
X	31323620	TTGGCGAGA	T	G31323625T	DMD	NM_004006.3(DMD):c.9194_9201del:p.Ile3065fs	coding	Pathogenic
X	31323624	C	CGAGAT	G31323631A	DMD	NM_004006.3(DMD):c.9193_9197dup:p.Pro3067fs	coding	Pathogenic
X	31323645	AC	A	C31323648T	DMD	NM_004006.3(DMD):c.9176del:p.Gly3059fs	coding	Pathogenic
X	31323648	CT	C	T31323649G	DMD	NM_004006.3(DMD):c.9173del:p.Gln3058fs	coding	Pathogenic
X	31323657	CGCT	C	C31323659A	DMD	NM_004006.3(DMD):c.9164-2_9164del	coding	Pathogenic
X	31348562	G	GA	G31348566A	DMD	NM_004006.3(DMD):c.9156dup:p.Leu3053fs	coding	Pathogenic
X	31348571	GAGATGCTGGACCAAAGT	G	A31348572C	DMD	NM_004006.3(DMD):c.9131_9147del:p.Asp3044fs	coding	Pathogenic
X	31348583	CA	C	A31348586G	DMD	NM_004006.3(DMD):c.9135del:p.Phe3045fs	coding	Pathogenic
X	31348585	A	AAGTCCCTG	T31348594A	DMD	NM_004006.3(DMD):c.9126_9133dup:p.Phe3045fs	coding	Pathogenic
X	31348615	A	ACTCGGTC	A31348627G	DMD	NM_004006.3(DMD):c.9097_9103dup:p.Val3035fs	coding	Pathogenic
X	31348628	CG	C	G31348630C	DMD	NM_004006.3(DMD):c.9090del:p.Val3031fs	coding	Pathogenic
X	31444504	TC	T	C31444505A	DMD	NM_004006.3(DMD):c.9060del:p.Asn3021fs	coding	Pathogenic
X	31444512	TC	T	C31444514A	DMD	NM_004006.3(DMD):c.9052del:p.Glu3018fs	coding	Pathogenic
X	31444523	GAGGTTAT	G	G31444525C	DMD	NM_004006.3(DMD):c.9035_9041del:p.Tyr3012fs	coding	Pathogenic
X	31444543	GA	G	A31444545T	DMD	NM_004006.3(DMD):c.9021del:p.Gln3008fs	coding	Pathogenic
X	31444555	TG	T	G31444557T	DMD	NM_004006.3(DMD):c.9009del:p.Thr3004fs	coding	Pathogenic
X	31444609	C	CA	T31444612A	DMD	NM_004006.3(DMD):c.8955dup:p.Ala2986fs	coding	Pathogenic
X	31477796	TACACAC	T	C31477826T	DMD	NM_004006.3(DMD):c.8937+276GT[14]	noncoding	Benign
X	31477796	TACAC	T	C31477828T	DMD	NM_004006.3(DMD):c.8937+276GT[15]	noncoding	Benign
X	31477796	TAC	T	C31477830T	DMD	NM_004006.3(DMD):c.8937+276GT[16]	noncoding	Benign
X	31478177	TCACCTCAGCTTGG	T	A31478179G	DMD	NM_004006.3(DMD):c.8853_8865del:p.Gln2952fs	coding	Pathogenic
X	31478242	TC	T	C31478243A	DMD	NM_004006.3(DMD):c.8800del:p.Glu2934fs	coding	Pathogenic
X	31479049	T	TC	T31479051C	DMD	NM_004006.3(DMD):c.8601dup:p.Thr2868fs	coding	Pathogenic
X	31479052	C	CAAGAGTACTCATGATTGTTCAGGAGATCGAGACCATCCTGGATAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A31479069G	DMD	NM_004006.3(DMD):c.8598_8599insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTATCCAGGATGGTCTCGATCTCCTGAACAATCATGAGTACTCTT:p.Glu2867delinsPhePhePhePhePhePheXaaXaaXaaXaaArgProProProArgProAlaAsnPheLeuTyrPheTer	coding	Pathogenic
X	31507311	C	CTCCACTTGAAGTTCAT	G31507328T	DMD	NM_004006.3(DMD):c.8344_8359dup:p.Ser2787fs	coding	Pathogenic
X	31507354	C	CTGCA	C31507360G	DMD	NM_004006.3(DMD):c.8313_8316dup:p.Val2773fs	coding	Pathogenic
X	31507386	A	AT	G31507393T	DMD	NM_004006.3(DMD):c.8284dup:p.Ile2762fs	coding	Pathogenic
X	31507386	AT	A	T31507392G	DMD	NM_004006.3(DMD):c.8284del:p.Ile2762fs	coding	Pathogenic
X	31507397	GT	G	T31507401C	DMD	NM_004006.3(DMD):c.8273del:p.Asn2758fs	coding	Pathogenic
X	31609450	GTCT	G	C31609455A	DMD	NM_004006.3(DMD):c.8217+18220_8217+18222del	noncoding	Benign
X	31609518	C	CGTGT	T31609533G	DMD	NM_004006.3(DMD):c.8217+18141AC[9]	noncoding	Benign
X	31627803	AG	A	G31627808A	DMD	NM_004006.3(DMD):c.8086del:p.Leu2696fs	coding	Pathogenic
X	31657974	A	ATAATG	T31657984G	DMD	NM_004006.3(DMD):c.8027+11_8027+15dup	noncoding	Benign
X	31658023	TTC	T	C31658027G	DMD	NM_004006.3(DMD):c.7992_7993del:p.Asn2665fs	coding	Pathogenic
X	31658151	AT	A	T31658156A	DMD	NM_004006.3(DMD):c.7873-8del	noncoding	Benign
X	31679566	AC	A	C31679567T	DMD	NM_004006.3(DMD):c.7680del:p.Gln2560fs	coding	Pathogenic
X	31729639	G	GT	A31729641T	DMD	NM_004006.3(DMD):c.7651dup:p.Thr2551fs	coding	Pathogenic
X	31729658	CTTGA	C	A31729662C	DMD	NM_004006.3(DMD):c.7629_7632del:p.Asn2543fs	coding	Pathogenic
X	31729764	TC	T	C31729767T	DMD	NM_004006.3(DMD):c.7543-17del	noncoding	Benign/Likely_benign
X	31773946	A	AT	C31773953T	DMD	NM_004006.3(DMD):c.7542+13dup	noncoding	Benign/Likely_benign
X	31774052	CG	C	G31774054T	DMD	NM_004006.3(DMD):c.7449del:p.Asp2484fs	coding	Pathogenic
X	31774120	AT	A	T31774123C	DMD	NM_004006.3(DMD):c.7381del:p.Met2461fs	coding	Pathogenic
X	31819970	CT	C	T31819972A	DMD	NM_004006.3(DMD):c.7309+4del	noncoding	Pathogenic
X	31820092	GA	G	A31820096G	DMD	NM_004006.3(DMD):c.7201-10del	noncoding	Benign
X	31836784	ATCCGGTTGTTTAGCTTGAACTGCTATTTCAGTTTC	A	T31836785C	DMD	NM_004006.3(DMD):c.7099_7133del:p.Glu2367fs	coding	Pathogenic
X	31875208	CT	A	C31875208A	DMD	NM_004006.3(DMD):c.7077_7078delinsT:p.Gln2359fs	coding	Pathogenic
X	31875225	TA	T	A31875228T	DMD	NM_004006.3(DMD):c.7060del:p.Tyr2354fs	coding	Pathogenic
X	31875321	TC	T	C31875322T	DMD	NM_004006.3(DMD):c.6964del:p.Asp2322fs	coding	Pathogenic
X	31879209	C	CG	C31879219G	DMD	NM_004006.3(DMD):c.6913-3845dup	noncoding	Benign
X	31879209	C	CGG	C31879219G	DMD	NM_004006.3(DMD):c.6913-3845_6913-3844dup	noncoding	Benign
X	31879209	C	CGGG	C31879219G	DMD	NM_004006.3(DMD):c.6913-3845_6913-3843dup	noncoding	Benign
X	31929596	CT	C	T31929599A	DMD	NM_004006.3(DMD):c.6911del:p.Lys2304fs	coding	Pathogenic
X	31929667	CA	C	A31929668C	DMD	NM_004006.3(DMD):c.6840del:p.Ser2280fs	coding	Pathogenic
X	31929669	C	CT	A31929672T	DMD	NM_004006.3(DMD):c.6838dup:p.Ser2280fs	coding	Pathogenic
X	31929715	CCTGGCGCAGGGGCAACT	C	G31929718T	DMD	NM_004006.3(DMD):c.6776_6792del:p.Glu2259fs	coding	Pathogenic
X	31932071	TA	T	A31932075T	DMD	NM_004006.3(DMD):c.6762+8del	noncoding	Benign
X	31968348	CT	C	T31968349G	DMD	NM_004006.3(DMD):c.6604del:p.Arg2202fs	coding	Pathogenic
X	31968424	CT	C	T31968425G	DMD	NM_004006.3(DMD):c.6528del:p.Asp2177fs	coding	Pathogenic
X	31968493	G	GCCCAATGC	A31968503C	DMD	NM_004006.3(DMD):c.6452_6459dup:p.Gln2154fs	coding	Pathogenic
X	32216793	AATG	A	T32216798C	DMD	NM_004006.3(DMD):c.6438+120_6438+122del	noncoding	Benign
X	32216906	AAAGACTTACCTT	A	C32216911T	DMD	NM_004006.3(DMD):c.6436_6438+9del	noncoding	Pathogenic
X	32216910	ACTTAC	A	C32216915A	DMD	NM_004006.3(DMD):c.6438+1_6438+5del	noncoding	Pathogenic
X	32216975	GAA	G	A32216977C	DMD	NM_004006.3(DMD):c.6377_6378del:p.Phe2126fs	coding	Pathogenic
X	32216987	CTTCTGTTAGCCACTGA	C	C32216990A	DMD	NM_004006.3(DMD):c.6351_6366del:p.Asn2117fs	coding	Pathogenic
X	32287599	GCTTCACC	G	C32287603T	DMD	NM_004006.3(DMD):c.6213_6219del:p.Arg2071fs	coding	Pathogenic
X	32287618	CG	C	G32287619T	DMD	NM_004006.3(DMD):c.6200del:p.Thr2067fs	coding	Pathogenic
X	32287762	A	AAT	C32287778T	DMD	NM_004006.3(DMD):c.6118-75AT[8]	noncoding	Benign
X	32310181	ATGAG	A	G32310185T	DMD	NM_004006.3(DMD):c.6014_6017del:p.Thr2005fs	coding	Pathogenic
X	32310245	AT	A	T32310246C	DMD	NM_004006.3(DMD):c.5953del:p.Val1984_Met1985insTer	coding	Pathogenic
X	32310266	CG	C	G32310268A	DMD	NM_004006.3(DMD):c.5932del:p.Arg1978fs	coding	Pathogenic
X	32342021	CTT	C	T32342030A	DMD	NM_004006.3(DMD):c.5922+77_5922+78del	noncoding	Benign
X	32342249	CCT	C	C32342252T	DMD	NM_004006.3(DMD):c.5771_5772del:p.Glu1924fs	coding	Pathogenic
X	32343223	TC	T	C32343224T	DMD	NM_004006.3(DMD):c.5649del:p.Arg1884fs	coding	Pathogenic
X	32345847	A	AAG	T32345850A	DMD	NM_004006.3(DMD):c.5586+94_5586+95dup	noncoding	Benign
X	32345999	GCTTT	G	T32346002C	DMD	NM_004006.3(DMD):c.5526_5529del:p.Arg1842fs	coding	Pathogenic
X	32346016	ATTCT	A	C32346019G	DMD	NM_004006.3(DMD):c.5509_5512del:p.Arg1837fs	coding	Pathogenic
X	32346061	G	GT	A32346063T	DMD	NM_004006.3(DMD):c.5467dup:p.Thr1823fs	coding	Pathogenic
X	32348425	T	TC	T32348428C	DMD	NM_004006.3(DMD):c.5428dup:p.Glu1810fs	coding	Pathogenic
X	32348530	TA	T	A32348539G	DMD	NM_004006.3(DMD):c.5326-3del	noncoding	Benign
X	32361035	A	AT	A32361042T	DMD	NM_004006.3(DMD):c.5325+1752dup	noncoding	Benign
X	32364604	TG	T	G32364608T	DMD	NM_004006.3(DMD):c.5131del:p.Gln1711fs	coding	Pathogenic
X	32364630	CAA	C	A32364633G	DMD	NM_004006.3(DMD):c.5104_5105del:p.Leu1702fs	coding	Pathogenic/Likely_pathogenic
X	32364657	CT	C	T32364660G	DMD	NM_004006.3(DMD):c.5078del:p.Lys1693fs	coding	Pathogenic
X	32365145	CCT	C	C32365148G	DMD	NM_004006.3(DMD):c.4898_4899del:p.Glu1633fs	coding	Pathogenic
X	32365171	TTC	T	C32365173G	DMD	NM_004006.3(DMD):c.4872_4873del:p.Lys1625fs	coding	Pathogenic
X	32380612	ATTCAT	A	A32380616C	DMD	NM_004006.3(DMD):c.4738_4742del:p.Met1580fs	coding	Pathogenic
X	32380657	CA	C	A32380659C	DMD	NM_004006.3(DMD):c.4697del:p.Leu1566fs	coding	Pathogenic
X	32380660	CT	C	T32380661G	DMD	NM_004006.3(DMD):c.4694del:p.Gln1565fs	coding	Pathogenic
X	32380670	CT	C	T32380673C	DMD	NM_004006.3(DMD):c.4684del:p.Arg1562fs	coding	Pathogenic
X	32386729	G	GAT	T32386742A	DMD	NM_004006.3(DMD):c.4519-276AT[7]	noncoding	Benign
X	32389602	CTTGT	C	T32389603A	DMD	NM_004006.3(DMD):c.4413_4416del:p.Gln1472fs	coding	Pathogenic
X	32389604	TG	T	G32389605T	DMD	NM_004006.3(DMD):c.4414del:p.Gln1472fs	coding	Pathogenic
X	32389624	G	GGCTGGTT	T32389632G	DMD	NM_004006.3(DMD):c.4388_4394dup:p.Asn1466fs	coding	Pathogenic
X	32390108	G	GCCTCCTTC	C32390119T	DMD	NM_004006.3(DMD):c.4299_4306dup:p.Ala1436fs	coding	Pathogenic
X	32390167	ATCAGATTGGATTT	A	A32390170T	DMD	NC_000023.11:g.32390168_32390180delTCAGATTGGATTT	coding	Pathogenic
X	32412179	GA	G	A32412187T	DMD	NM_004006.3(DMD):c.4072-267del	coding	Pathogenic
X	32438251	A	AG	T32438253G	DMD	NM_004006.3(DMD):c.4060dup:p.Leu1354fs	coding	Pathogenic
X	32438259	C	CGG	C32438260G	DMD	NM_004006.3(DMD):c.4052_4053insCC:p.Trp1351fs	coding	Pathogenic
X	32438278	T	TC	A32438280C	DMD	NM_004006.3(DMD):c.4033dup:p.Glu1345fs	coding	Pathogenic
X	32438342	G	GC	A32438343C	DMD	NM_004006.3(DMD):c.3969_3970insG:p.Arg1324fs	coding	Pathogenic
X	32441256	AG	A	G32441257C	DMD	NM_004006.3(DMD):c.3844del:p.Trp1281_Leu1282insTer	coding	Pathogenic
X	32448467	TG	T	G32448468C	DMD	NM_004006.3(DMD):c.3774del:p.Lys1257_Cys1258insTer	coding	Pathogenic
X	32448470	AT	A	T32448473C	DMD	NM_004006.3(DMD):c.3771del:p.Lys1257fs	coding	Pathogenic
X	32448513	TAG	T	A32448516T	DMD	NM_004006.3(DMD):c.3727_3728del:p.Leu1243fs	coding	Pathogenic
X	32448551	C	CA	G32448553A	DMD	NM_004006.3(DMD):c.3690dup:p.Val1231fs	coding	Pathogenic
X	32448596	G	GT	C32448600T	DMD	NM_004006.3(DMD):c.3645dup:p.Leu1216fs	coding	Pathogenic
X	32452282	AGAAAGGAAAGGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	A	A32452297G	DMD	NM_004006.3(DMD):c.3603+2162_3603+2379del	noncoding	Benign
X	32452292	GGAAAA	G	A32452294G	DMD	NM_004006.3(DMD):c.3603+2365_3603+2369del	noncoding	Benign
X	32452292	GGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G	A32452294G	DMD	NM_004006.3(DMD):c.3603+2163_3603+2369del	noncoding	Benign
X	32452293	GAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGT	G	A32452294G	DMD	NM_004006.3(DMD):c.3603+2328_3603+2368del	noncoding	Benign
X	32452298	GGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G	A32452300G	DMD	NM_004006.3(DMD):c.3603+2163_3603+2363del	noncoding	Benign
X	32452298	GGAAAGGGAAAGTGAAAGTGAAAGTGAAAGT	G	G32452304T	DMD	NM_004006.3(DMD):c.3603+2334_3603+2363del	noncoding	Benign
X	32452299	GAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G	A32452300G	DMD	NM_004006.3(DMD):c.3603+2178_3603+2362del	noncoding	Benign
X	32452299	GAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G	A32452300G	DMD	NM_004006.3(DMD):c.3603+2173_3603+2362del	noncoding	Benign
X	32452299	GAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G	A32452300G	DMD	NM_004006.3(DMD):c.3603+2168_3603+2362del	noncoding	Benign
X	32452299	GAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G	A32452300G	DMD	NM_004006.3(DMD):c.3603+2163_3603+2362del	noncoding	Benign
X	32452393	GGGAAGGGAAA	G	G32452398A	DMD	NM_004006.3(DMD):c.3603+2259_3603+2268del	noncoding	Benign
X	32454646	C	CT	A32454660T	DMD	NM_004006.3(DMD):c.3603+3dup	noncoding	Benign/Likely_benign
X	32454699	GT	G	T32454703A	DMD	NM_004006.3(DMD):c.3565del:p.Thr1189fs	coding	Pathogenic
X	32454745	T	TCATCC	A32454751C	DMD	NM_004006.3(DMD):c.3515_3519dup:p.Thr1174delinsGlyTer	coding	Pathogenic
X	32454826	CA	C	A32454827T	DMD	NM_004006.3(DMD):c.3438del:p.Val1145_Tyr1146insTer	coding	Pathogenic
X	32454839	CA	C	A32454843C	DMD	NM_004006.3(DMD):c.3433-8del	noncoding	Benign
X	32461653	CT	C	T32461664G	DMD	NM_004006.3(DMD):c.3432+1785del	noncoding	Benign
X	32463556	T	TA	G32463558A	DMD	NM_004006.3(DMD):c.3314dup:p.Asn1106fs	coding	Pathogenic
X	32463589	TA	T	A32463593G	DMD	NM_004006.3(DMD):c.3281del:p.Leu1093_Leu1094insTer	coding	Pathogenic
X	32464648	TC	T	C32464649A	DMD	NM_004006.3(DMD):c.3213del:p.Lys1072fs	coding	Pathogenic
X	32464675	AT	A	T32464678C	DMD	NM_004006.3(DMD):c.3186del:p.Lys1062fs	coding	Pathogenic
X	32468510	GAGTTTAT	G	A32468511T	DMD	NM_004006.3(DMD):c.3143_3149del:p.Asn1048fs	coding	Pathogenic
X	32468721	AT	A	T32468727A	DMD	NM_004006.3(DMD):c.2950-12del	noncoding	Benign
X	32472192	AT	A	T32472195C	DMD	NM_004006.3(DMD):c.2920del:p.Ile974fs	coding	Pathogenic
X	32472210	C	CTT	A32472212T	DMD	NM_004006.3(DMD):c.2902_2903insAA:p.Ser968fs	coding	Pathogenic
X	32472279	T	TG	A32472281G	DMD	NM_004006.3(DMD):c.2833dup:p.Gln945fs	coding	Pathogenic
X	32484910	TTTAC	T	A32484917G	DMD	NM_004006.3(DMD):c.2803+5_2803+8del	noncoding	Pathogenic
X	32484946	GCA	G	C32484949T	DMD	NM_004006.3(DMD):c.2774_2775del:p.Val925fs	coding	Pathogenic
X	32484960	ACT	A	C32484961T	DMD	NM_004006.3(DMD):c.2760_2761del:p.Gln920fs	coding	Pathogenic
X	32484967	TAA	T	A32484970T	DMD	NM_004006.3(DMD):c.2753_2754del:p.His917_Phe918insTer	coding	Pathogenic
X	32485002	A	AT	G32485003T	DMD	NM_004006.3(DMD):c.2719_2720insA:p.Leu907fs	coding	Pathogenic
X	32491284	A	AT	A32491290T	DMD	NM_004006.3(DMD):c.2614dup:p.Ile872fs	coding	Pathogenic
X	32491296	C	CTT	A32491301T	DMD	NM_004006.3(DMD):c.2601_2602dup:p.Ser868fs	coding	Pathogenic
X	32491389	T	TTA	G32491394T	DMD	NM_004006.3(DMD):c.2508_2509dup:p.Asn837fs	coding	Pathogenic
X	32491399	CG	C	G32491400A	DMD	NM_004006.3(DMD):c.2499del:p.Ile833fs	coding	Pathogenic
X	32491432	GTC	G	T32491437A	DMD	NM_004006.3(DMD):c.2465_2466del:p.Arg822fs	coding	Pathogenic/Likely_pathogenic
X	32491476	AGTTGTTCT	A	T32491478A	DMD	NM_004006.3(DMD):c.2415_2422del:p.Leu808fs	coding	Pathogenic
X	32491526	GA	G	A32491533T	DMD	NM_004006.3(DMD):c.2381-9del	noncoding	Benign
X	32491526	G	GA	T32491534A	DMD	NM_004006.3(DMD):c.2381-9dup	noncoding	Benign
X	32501756	ATTCACCATCTGTTCCACCAGGGCCTGAGCTGATCTGCTGGCATCTTGCAGTT	A	A32501760T	DMD	NM_004006.3(DMD):c.2327_2378del:p.Lys776fs	coding	Pathogenic
X	32501775	AG	A	G32501778C	DMD	NM_004006.3(DMD):c.2359del:p.Leu787fs	coding	Pathogenic
X	32501840	GGCCT	G	C32501843A	DMD	NM_004006.3(DMD):c.2293-2_2294del	coding	Pathogenic
X	32518083	TTC	T	C32518085G	DMD	NM_004006.3(DMD):c.2215_2216del:p.Glu739fs	coding	Pathogenic
X	32518132	CTAA	AAAG	C32518132A	DMD	NM_004006.3(DMD):c.2169-4_2169-1delinsCTTT	coding	Pathogenic
X	32518148	TAA	T	A32518151G	DMD	NM_004006.3(DMD):c.2169-19_2169-18del	noncoding	Benign/Likely_benign
X	32545240	ACCAGGATCTGTTC	A	A32545243T	DMD	NM_004006.3(DMD):c.2074_2086del:p.Arg691_Glu692insTer	coding	Pathogenic
X	32545293	CTG	C	G32545297T	DMD	NM_004006.3(DMD):c.2032_2033del:p.Gln678fs	coding	Pathogenic
X	32545299	TAGTGATGGCTG	T	A32545304G	DMD	NM_004006.3(DMD):c.2017_2027del:p.Gln673fs	coding	Pathogenic
X	32565710	T	TA	C32565712A	DMD	NM_004006.3(DMD):c.1983dup:p.Thr662fs	coding	Pathogenic
X	32565714	CT	C	T32565718C	DMD	NM_004006.3(DMD):c.1979del:p.Lys660fs	coding	Pathogenic
X	32565752	C	CA	G32565756A	DMD	NM_004006.3(DMD):c.1941dup:p.Ala648fs	coding	Pathogenic
X	32565791	AC	A	C32565792T	DMD	NM_004006.3(DMD):c.1902del:p.Lys634fs	coding	Pathogenic
X	32565871	G	GCTTTTAAAAC	G32565884T	DMD	NC_000023.11:g.32565871_32565872insCTTTTAAAAC	coding	Pathogenic
X	32573607	CT	C	T32573612C	DMD	NM_004006.3(DMD):c.1734del:p.Glu579fs	coding	Pathogenic
X	32573628	TA	T	A32573633G	DMD	NM_004006.3(DMD):c.1713del:p.Phe571fs	coding	Pathogenic
X	32573633	AG	A	G32573635C	DMD	NM_004006.3(DMD):c.1708del:p.Leu570fs	coding	Pathogenic
X	32614301	AC	A	C32614303T	DMD	NM_004006.3(DMD):c.1482+1del	noncoding	Pathogenic
X	32614351	AG	A	G32614353C	DMD	NM_004006.3(DMD):c.1433del:p.Pro478fs	coding	Pathogenic
X	32614378	TTCTTC	T	C32614380G	DMD	NM_004006.3(DMD):c.1402_1406del:p.Glu468fs	coding	Pathogenic
X	32614396	CCAGT	C	G32614399T	DMD	NM_004006.3(DMD):c.1385_1388del:p.Asp462fs	coding	Pathogenic
X	32614401	C	CA	T32614403A	DMD	NM_004006.3(DMD):c.1383dup:p.Asp462Ter	coding	Pathogenic
X	32614438	T	TA	C32614443A	DMD	NM_004006.3(DMD):c.1346dup:p.Leu449fs	coding	Pathogenic
X	32614442	ACT	A	C32614445A	DMD	NM_004006.3(DMD):c.1341_1342del:p.Arg447fs	coding	Pathogenic
X	32614456	G	GA	T32614461A	DMD	NM_004006.3(DMD):c.1332-4dup	noncoding	Benign
X	32644126	ACTTACTTG	A	A32644130T	DMD	NM_004006.3(DMD):c.1329_1331+5del	noncoding	Pathogenic
X	32644156	AC	A	C32644159T	DMD	NM_004006.3(DMD):c.1306del:p.Arg435_Val436insTer	coding	Pathogenic
X	32644279	CG	C	G32644281C	DMD	NM_004006.3(DMD):c.1183del:p.Arg395fs	coding	Pathogenic
X	32644313	CCT	C	C32644314G	DMD	NM_004006.3(DMD):c.1150-2_1150-1del	coding	Pathogenic
X	32645014	C	CT	C32645016T	DMD	NM_004006.3(DMD):c.1098dup:p.Glu367fs	coding	Pathogenic
X	32645022	GCTTGCAAT	G	C32645023G	DMD	NM_004006.3(DMD):c.1083_1090del:p.Leu362fs	coding	Pathogenic
X	32645120	GCCAAA	G	C32645121T	DMD	NM_004006.3(DMD):c.988_992del:p.Phe330fs	coding	Pathogenic
X	32651129	A	ATCC	A32651131C	DMD	NM_004006.3(DMD):c.961-5978_961-5977insAGG	noncoding	Benign
X	32651138	CT	C	T32651149C	DMD	NM_004006.3(DMD):c.961-5987del	noncoding	Benign
X	32698015	GG	TC	G32698015T	DMD	NM_004006.3(DMD):c.832-18_832-17delinsGA	noncoding	Benign/Likely_benign
X	32698960	G	GTC	G32698964C	DMD	NM_004006.3(DMD):c.831+150_831+151dup	noncoding	Benign
X	32698968	C	CTG	T32698970G	DMD	NM_004006.3(DMD):c.831+143_831+144insAC	noncoding	Benign
X	32699149	TGTTCTTCTTTA	T	T32699152C	DMD	NM_004006.3(DMD):c.783_793del:p.Lys262fs	coding	Pathogenic
X	32699165	CT	C	T32699168A	DMD	NM_004006.3(DMD):c.777del:p.Lys259_Val260insTer	coding	Pathogenic
X	32699210	T	TATTG	G32699211A	DMD	NM_004006.3(DMD):c.732_733insCAAT:p.Ile245fs	coding	Pathogenic
X	32699250	GT	G	T32699251A	DMD	NM_004006.3(DMD):c.692del:p.Tyr231fs	coding	Pathogenic
X	32738674	C	CAGACGGG	T32738675A	DMD	NM_004006.3(DMD):c.650-39382_650-39381insCCCGTCT	noncoding	Benign
X	32738675	T	TG	A32738676G	DMD	NM_004006.3(DMD):c.650-39383_650-39382insC	noncoding	Benign
X	32738689	TC	T	C32738690A	DMD	NM_004006.3(DMD):c.650-39397del	noncoding	Benign
X	32738691	ACCCGTCT	A	C32738692G	DMD	NM_004006.3(DMD):c.650-39405_650-39399del	noncoding	Benign
X	32809508	G	GT	C32809512T	DMD	NM_004006.3(DMD):c.633dup:p.Leu212fs	coding	Pathogenic
X	32809525	TGATATCTGGC	T	A32809529G	DMD	NM_004006.3(DMD):c.607_616del:p.Ala203fs	coding	Pathogenic
X	32809564	GTGGC	G	G32809567A	DMD	NM_004006.3(DMD):c.574_577del:p.Ala192fs	coding	Pathogenic
X	32816468	CTA	C	A32816470G	DMD	NM_004006.3(DMD):c.528_529del:p.His176fs	coding	Pathogenic
X	32816481	TG	T	G32816482A	DMD	NM_004006.3(DMD):c.516del:p.Ile173fs	coding	Pathogenic
X	32816481	T	TGA	C32816487A	DMD	NM_004006.3(DMD):c.515_516dup:p.Ile173fs	coding	Pathogenic
X	32816513	CTGG	C	G32816519A	DMD	NM_004006.3(DMD):c.479CCA[1]:p.Thr161del	coding	Pathogenic/Likely_pathogenic
X	32816579	AG	A	G32816580A	DMD	NM_004006.3(DMD):c.418del:p.Leu140fs	coding	Pathogenic
X	32816597	GT	G	T32816600G	DMD	NM_004006.3(DMD):c.400del:p.Thr134fs	coding	Pathogenic
X	32816610	C	CA	G32816612A	DMD	NM_004006.3(DMD):c.387dup:p.Gly130fs	coding	Pathogenic
X	32823365	CT	C	T32823367C	DMD	NM_004006.3(DMD):c.286del:p.Ser96fs	coding	Pathogenic
X	32844778	CTTACA	C	C32844782T	DMD	NM_004006.3(DMD):c.264_264+4del	noncoding	Pathogenic
X	32844779	TTACATTA	T	A32844781T	DMD	NM_004006.3(DMD):c.261_264+3del	noncoding	Pathogenic
X	32844786	A	AT	G32844789T	DMD	NM_004006.3(DMD):c.260dup:p.Asn87fs	coding	Pathogenic
X	32844848	C	CT	C32844854T	DMD	NM_004006.3(DMD):c.198dup:p.Gly67fs	coding	Pathogenic
X	32849720	TCACATAC	T	C32849723G	DMD	NM_004006.3(DMD):c.186+1_186+7del	noncoding	Pathogenic
X	32849738	CCT	C	C32849739G	DMD	NM_004006.3(DMD):c.174_175del:p.Gly59fs	coding	Pathogenic
X	32849767	G	GA	C32849768A	DMD	NM_004006.3(DMD):c.146_147insT:p.Leu50fs	coding	Pathogenic
X	32849771	C	CT	C32849773T	DMD	NM_004006.3(DMD):c.142dup:p.Arg48fs	coding	Pathogenic
X	32849797	G	GT	C32849800T	DMD	NM_004006.3(DMD):c.116dup:p.Asn39fs	coding	Pathogenic
X	32849828	T	TAA	T32849837A	DMD	NM_004006.3(DMD):c.94-16_94-15dup	noncoding	Benign
X	32849980	CAAAA	C	A32849985T	DMD	NM_004006.3(DMD):c.94-164_94-161del	noncoding	Benign
X	33014766	TTTCAA	T	A33014776G	DMD	NM_004006.3(DMD):c.93+5368_93+5372del	noncoding	Benign
X	33014821	GTTTATATGA	G	T33014826C	DMD	NM_004006.3(DMD):c.93+5309_93+5317del	noncoding	Benign
X	33020154	AT	A	T33020157A	DMD	NM_004006.3(DMD):c.77del:p.Asn26fs	coding	Pathogenic
X	33020162	A	AT	G33020167T	DMD	NM_004006.3(DMD):c.69dup:p.Trp24fs	coding	Pathogenic
X	33174034	CAAAAA	C	A33174050G	DMD	NM_004006.3(DMD):c.31+37243_31+37247del	noncoding	Benign
X	33174034	CA	C	A33174054G	DMD	NM_004006.3(DMD):c.31+37247del	noncoding	Benign
X	33211297	CT	C	T33211299C	DMD	NM_004006.3(DMD):c.15del:p.Glu6fs	coding	Pathogenic
X	33211425	T	TA	G33211433A	DMD	NM_004006.3(DMD):c.-114dup	coding	Benign/Likely_benign
X	37728062	ATAATTGGTACCAGC	A	A37728065C	XK	NM_021083.4(XK):c.938_951del:p.Asn313fs	coding	Pathogenic
X	37793789	T	TAA	T37793790A	CYBB	NM_000397.4(CYBB):c.462_463insAA:p.Phe155fs	coding	Pathogenic
X	37795890	A	ATG	T37795938G	CYBB	NM_000397.4(CYBB):c.484-60TG[24]	noncoding	Benign
X	37795890	A	ATGTG	T37795938G	CYBB	NM_000397.4(CYBB):c.484-60TG[25]	noncoding	Benign
X	37795890	ATGTG	A	G37795934T	CYBB	NM_000397.4(CYBB):c.484-60TG[21]	noncoding	Benign
X	37795890	ATGTGTG	A	G37795932T	CYBB	NM_000397.4(CYBB):c.484-60TG[20]	noncoding	Benign
X	37795890	ATGTGTGTG	A	G37795930T	CYBB	NM_000397.4(CYBB):c.484-60TG[19]	noncoding	Benign
X	37796030	TA	T	A37796032T	CYBB	NM_000397.4(CYBB):c.565del:p.Ile189fs	coding	Pathogenic
X	37799030	AT	A	T37799031G	CYBB	NM_000397.4(CYBB):c.751del:p.Trp251fs	coding	Pathogenic
X	37801586	TTG	T	G37801628T	CYBB	NM_000397.4(CYBB):c.897+239TG[20]	noncoding	Benign
X	37801586	T	TTG	T37801630G	CYBB	NM_000397.4(CYBB):c.897+239TG[22]	noncoding	Benign
X	37801586	T	TTGTG	T37801630G	CYBB	NM_000397.4(CYBB):c.897+239TG[23]	noncoding	Benign
X	37801586	T	TTGTGTG	T37801630G	CYBB	NM_000397.4(CYBB):c.897+239TG[24]	noncoding	Benign
X	37801586	T	TTGTGTGTG	T37801630G	CYBB	NM_000397.4(CYBB):c.897+239TG[25]	noncoding	Benign
X	37803897	AACCATCGAGCT	A	C37803900A	CYBB	NM_000397.4(CYBB):c.921_931del:p.Ile308fs	coding	Pathogenic
X	37803914	TGAA	T	A37803922G	CYBB	NM_000397.4(CYBB):c.937AAG[2]:p.Lys315del	coding	Pathogenic
X	37803952	AT	A	T37803957G	CYBB	NM_000397.4(CYBB):c.978del:p.Phe326fs	coding	Pathogenic
X	37804118	GG	AA	G37804118A	CYBB	NM_000397.4(CYBB):c.1139_1140delinsAA:p.Trp380Ter	coding	Pathogenic
X	37805087	T	TG	T37805092G	CYBB	NM_000397.4(CYBB):c.1237dup:p.Val413fs	coding	Pathogenic/Likely_pathogenic
X	38269557	CATAAGTT	C	G38269562C	RPGR	NM_000328.3(RPGR):c.*62_*68del	noncoding	Benign
X	38276457	A	AATTCATGT	G38276481T	RPGR	NM_000328.3(RPGR):c.2091+114ACATGAAT[3]	noncoding	Benign
X	38276679	CCA	C	C38276682G	RPGR	NM_000328.3(RPGR):c.1997_1998del:p.Val666fs	coding	Pathogenic
X	38285414	CT	C	T38285424A	RPGR	NM_001034853.2(RPGR):c.*125del	coding	Benign
X	38285780	GCCTGTCT	G	T38285785A	RPGR	NM_001034853.2(RPGR):c.3212_3218del:p.Glu1071fs	coding	Pathogenic/Likely_pathogenic
X	38285847	TCC	T	C38285851T	RPGR	NM_001034853.2(RPGR):c.3150_3151del:p.Glu1051fs	coding	Pathogenic
X	38285880	TCTC	T	C38285883T	RPGR	NM_001034853.2(RPGR):c.3116_3118del:p.Gly1039del	coding	Benign
X	38285964	TC	T	C38285965T	RPGR	NM_001034853.2(RPGR):c.3034del:p.Glu1012fs	coding	Pathogenic
X	38286060	TCC	T	C38286063T	RPGR	NM_001034853.2(RPGR):c.2937_2938del:p.Glu980fs	coding	Pathogenic/Likely_pathogenic
X	38286104	CT	C	T38286105C	RPGR	NM_001034853.2(RPGR):c.2894del:p.Glu965fs	coding	Pathogenic
X	38286158	C	CTCCCCTTCTCCATCCTCCCCT	T38286191A	RPGR	NM_001034853.2(RPGR):c.2820_2840dup:p.Asp943_Glu949dup	coding	Benign
X	38286213	T	TC	T38286215C	RPGR	NM_001034853.2(RPGR):c.2785dup:p.Glu929fs	coding	Pathogenic
X	38286318	TCC	T	C38286321T	RPGR	NM_001034853.2(RPGR):c.2679_2680del:p.Glu894fs	coding	Pathogenic
X	38286473	C	CCCCT	C38286481T	RPGR	NM_001034853.2(RPGR):c.2522_2525dup:p.Glu843fs	coding	Pathogenic
X	38286478	C	CCCCTTCCTCCTCTTCCCCCTCACCCTCCTCCTCTTCCTCTT	C38286524T	RPGR	NM_001034853.2(RPGR):c.2480_2520dup:p.Glu841fs	coding	Pathogenic
X	38286486	TC	T	C38286488T	RPGR	NM_001034853.2(RPGR):c.2512del:p.Glu838fs	coding	Pathogenic
X	38286527	TCC	T	C38286528T	RPGR	NM_001034853.2(RPGR):c.2470_2471del:p.Gly824fs	coding	Pathogenic
X	38286538	CCTCT	C	C38286539A	RPGR	NM_001034853.2(RPGR):c.2457_2460del:p.Glu820fs	coding	Pathogenic
X	38286544	CT	C	T38286546C	RPGR	NM_001034853.2(RPGR):c.2454del:p.Glu818_Val819insTer	coding	Pathogenic
X	38286662	TTCC	T	C38286667T	RPGR	NM_001034853.2(RPGR):c.2331GGA[1]:p.Glu779del	coding	Benign/Likely_benign
X	38286668	CT	C	T38286673C	RPGR	NM_001034853.2(RPGR):c.2330del:p.Lys777fs	coding	Pathogenic
X	38286850	G	GCTCCCTCTCCTTTTGCTCCTGCTCTTCCCCATCCCTCTTCTTCCATTCTTCCTTCTCTGCTAGTTCCTTCT	G38286933T	RPGR	NM_001034853.2(RPGR):c.2078_2148dup:p.Gln717delinsArgArgAsnTer	coding	Pathogenic
X	38287066	C	CG	C38287067G	RPGR	NM_001034853.2(RPGR):c.1932_1933insC:p.Gly645fs	coding	Pathogenic
X	38287202	A	AT	C38287206T	RPGR	NM_001034853.2(RPGR):c.1796dup:p.Asn599fs	coding	Pathogenic
X	38291017	ATG	A	G38291023C	RPGR	NM_001034853.2(RPGR):c.1512_1513del:p.Ile505fs	coding	Pathogenic
X	38291035	TA	T	A38291041T	RPGR	NM_001034853.2(RPGR):c.1507-12del	noncoding	Benign
X	38291123	ATTTT	A	T38291127A	RPGR	NM_001034853.2(RPGR):c.1507-103_1507-100del	noncoding	Benign
X	38297292	TCTGG	T	G38297296C	RPGR	NM_001034853.2(RPGR):c.1402_1405del:p.Pro468fs	coding	Pathogenic
X	38297318	TA	T	A38297320G	RPGR	NM_001034853.2(RPGR):c.1379del:p.Leu460fs	coding	Pathogenic
X	38298975	CG	C	G38298976T	RPGR	NM_001034853.2(RPGR):c.1225del:p.Arg409fs	coding	Pathogenic/Likely_pathogenic
X	38304778	TAC	T	C38304782G	RPGR	NM_001034853.2(RPGR):c.789_790del:p.Thr265fs	coding	Pathogenic
X	38310524	T	TA	T38310532A	RPGR	NM_001034853.2(RPGR):c.778+84dup	noncoding	Benign
X	38310647	G	GCTACTTGGAT	A38310659T	RPGR	NM_001034853.2(RPGR):c.736_745dup:p.Ala249fs	coding	Pathogenic
X	38317306	TGTGTCTTACTTGTTACAAAAGCTGAATGGTAATATCCACAAGAGATCCAGGAGACAG	T	G38317309T	RPGR	NM_001034853.2(RPGR):c.572_619+9del	noncoding	Pathogenic
X	38317389	GAC	G	C38317393G	RPGR	NM_001034853.2(RPGR):c.544_545del:p.Val182fs	coding	Pathogenic
X	38318530	CAAAAAT	C	A38318533T	RPGR	NM_001034853.2(RPGR):c.469+293_469+298del	noncoding	Benign
X	38318970	C	CA	T38318972A	RPGR	NM_001034853.2(RPGR):c.327dup:p.Ala110fs	coding	Pathogenic/Likely_pathogenic
X	38327059	T	TA	G38327075A	RPGR	NM_001034853.2(RPGR):c.28+266dup	noncoding	Benign
X	38352177	CTTCT	C	T38352182A	OTC	Single_allele	noncoding	Benign
X	38367174	C	CA	G38367189A	OTC	NM_000531.6(OTC):c.78-103dup	noncoding	Benign
X	38381302	G	GT	C38381309T	OTC	NM_000531.6(OTC):c.299-34dup	noncoding	Benign/Likely_benign
X	38381324	C	CT	A38381335T	OTC	NM_000531.6(OTC):c.299-8dup	noncoding	Benign
X	38381334	T	TA	T38381336A	OTC	NM_000531.6(OTC):c.299-7dup	noncoding	Benign
X	38381343	CT	C	T38381346G	OTC	NM_000531.6(OTC):c.303del:p.Phe101fs	coding	Pathogenic
X	38403445	G	GATT	G38403449A	OTC	NM_000531.6(OTC):c.541-172_541-170dup	noncoding	Benign
X	38403727	CAGCTACTCCAA	C	C38403730G	OTC	NM_000531.6(OTC):c.653_663del:p.Ala218fs	coding	Pathogenic
X	38408786	TG	T	G38408787C	OTC	NM_000531.6(OTC):c.709del:p.Ala237fs	coding	Pathogenic
X	38408979	AG	A	G38408980A	OTC	NM_000531.6(OTC):c.822del:p.Lys276fs	coding	Pathogenic
X	38411665	C	CA	T38411681A	OTC	NM_000531.6(OTC):c.868-182dup	noncoding	Benign
X	38411917	CAGA	C	A38411923T	OTC	NM_000531.6(OTC):c.926AAG[1]:p.Glu310del	coding	Pathogenic
X	38412124	A	AT	C38412132T	OTC	NM_000531.6(OTC):c.1005+132dup	noncoding	Benign
X	38671391	TC	T	C38671394T	TSPAN7	NM_004615.4(TSPAN7):c.289del:p.Leu97fs	coding	Pathogenic
X	38675832	CTG	C	T38675835G	TSPAN7	NM_004615.4(TSPAN7):c.572_573del:p.Val191fs	coding	Pathogenic
X	40051808	A	ATT	C40051818T	BCOR	NM_001123385.2(BCOR):c.*299_*300dup	noncoding	Benign
X	40054323	AT	A	T40054326A	BCOR	NM_001123385.2(BCOR):c.4751del:p.Asn1584fs	coding	Pathogenic
X	40057198	CA	C	A40057200G	BCOR	NM_001123385.2(BCOR):c.4551del:p.Glu1518fs	coding	Pathogenic
X	40062237	TGG	T	G40062238T	BCOR	NM_001123385.2(BCOR):c.4328_4329del:p.Thr1443fs	coding	Pathogenic
X	40070984	TC	T	C40070985G	BCOR	NM_001123385.2(BCOR):c.3226del:p.Glu1076fs	coding	Pathogenic
X	40071117	CTCTT	C	T40071124A	BCOR	NM_001123385.2(BCOR):c.3090_3093del:p.Arg1031fs	coding	Pathogenic
X	40071180	GA	G	A40071193C	BCOR	NM_001123385.2(BCOR):c.3052-22del	noncoding	Benign
X	40071180	G	GA	C40071194A	BCOR	NM_001123385.2(BCOR):c.3052-34dup	noncoding	Benign
X	40072955	AAC	A	C40072957G	BCOR	NM_001123385.2(BCOR):c.2389_2390del:p.Val797fs	coding	Pathogenic
X	40073816	C	CA	C40073818A	BCOR	NM_001123385.2(BCOR):c.1529dup:p.Val511fs	coding	Pathogenic
X	40074305	GGT	G	T40074307G	BCOR	NM_001123385.2(BCOR):c.1039_1040del:p.Thr347fs	coding	Pathogenic
X	40600931	T	TAAA	C40600945A	ATP6AP2	NM_005765.3(ATP6AP2):c.858+61_858+63dup	noncoding	Benign
X	40600931	T	TAA	C40600945A	ATP6AP2	NM_005765.3(ATP6AP2):c.858+62_858+63dup	noncoding	Benign
X	40600931	T	TA	C40600945A	ATP6AP2	NM_005765.3(ATP6AP2):c.858+63dup	noncoding	Benign
X	41123703	G	GC	T41123711C	USP9X	NM_001039591.3(USP9X):c.82dup:p.Leu28fs	coding	Pathogenic
X	41129046	C	CA	G41129048A	USP9X	NM_001039591.3(USP9X):c.144dup:p.Asp49fs	coding	Pathogenic
X	41136884	ACTT	A	C41136888G	USP9X	NM_001039591.3(USP9X):c.517CTT[1]:p.Leu174del	coding	Pathogenic
X	41144220	A	AT	G41144238T	USP9X	NM_001039591.3(USP9X):c.1315-285dup	noncoding	Benign
X	41144237	T	TTG	G41144238T	USP9X	NM_001039591.3(USP9X):c.1315-285_1315-284insTG	noncoding	Benign
X	41151221	CT	C	T41151230A	USP9X	NM_001039591.3(USP9X):c.1763+173del	noncoding	Benign
X	41152778	CT	C	T41152782G	USP9X	NM_001039591.3(USP9X):c.1764-166del	noncoding	Benign
X	41152989	TAATC	T	T41152996C	USP9X	NM_001039591.3(USP9X):c.1812_1815del:p.Gln605fs	coding	Pathogenic
X	41153021	GTTAC	G	A41153024T	USP9X	NM_001039591.3(USP9X):c.1840_1843del:p.Thr614fs	coding	Pathogenic
X	41153233	TAA	T	A41153234G	USP9X	NM_001039591.3(USP9X):c.1897+153_1897+154del	noncoding	Benign
X	41166166	C	CT	A41166168T	USP9X	NM_001039591.3(USP9X):c.2281dup:p.Tyr761fs	coding	Pathogenic
X	41171864	CTCTTT	C	T41171870G	USP9X	NM_001039591.3(USP9X):c.3060_3064del:p.Phe1020fs	coding	Pathogenic
X	41183824	A	AT	C41183835T	USP9X	NM_001039591.3(USP9X):c.3149-164dup	noncoding	Benign
X	41184341	A	AT	A41184352T	USP9X	NM_001039591.3(USP9X):c.3280-46dup	noncoding	Benign
X	41186750	CTATTAA	C	A41186756G	USP9X	NM_001039591.3(USP9X):c.3684+114_3684+119del	noncoding	Benign
X	41186830	A	AT	G41186845T	USP9X	NM_001039591.3(USP9X):c.3684+202dup	noncoding	Benign
X	41186830	A	ATT	G41186845T	USP9X	NM_001039591.3(USP9X):c.3684+201_3684+202dup	noncoding	Benign
X	41187829	C	CT	A41187849T	USP9X	NM_001039591.3(USP9X):c.3685-144dup	noncoding	Benign
X	41196307	T	TG	A41196311G	USP9X	NM_001039591.3(USP9X):c.4037dup:p.His1347fs	coding	Pathogenic
X	41197592	TATC	T	C41197595G	USP9X	NM_001039591.3(USP9X):c.4380+85_4380+87del	noncoding	Benign
X	41197624	CTTT	C	T41197628A	USP9X	NM_001039591.3(USP9X):c.4380+118_4380+120del	noncoding	Benign
X	41198366	TTTTGAAGGAAGATCTTTTTATTAGAAAATCTGAGTTTTCTGAGATGTAATGAGATCTTAAATTCC	T	T41198367A	USP9X	NM_001039591.3(USP9X):c.4381-161_4381-97del	noncoding	Benign
X	41205155	CACTA	C	C41205157A	USP9X	NM_001039591.3(USP9X):c.4825-146_4825-143del	noncoding	Benign
X	41205633	GT	G	T41205650A	USP9X	NM_001039591.3(USP9X):c.5015+157del	noncoding	Benign
X	41210759	T	TA	C41210761A	USP9X	NM_001039591.3(USP9X):c.5189+78dup	noncoding	Benign
X	41215836	G	GT	C41215850T	USP9X	NM_001039591.3(USP9X):c.5332-50dup	noncoding	Benign
X	41223309	T	TA	C41223311A	USP9X	NM_001039591.3(USP9X):c.6659dup:p.Tyr2220Ter	coding	Pathogenic
X	41223330	AAATTAT	TCCTG	A41223330T	USP9X	NM_001039591.3(USP9X):c.6679_6685delinsTCCTG:p.Lys2227_Tyr2229delinsSerTer	coding	Pathogenic
X	41224644	T	TA	T41224654A	USP9X	NM_001039591.3(USP9X):c.6752-89dup	noncoding	Benign
X	41225066	C	CT	A41225068T	USP9X	NM_001039591.3(USP9X):c.6991dup:p.Tyr2331fs	coding	Pathogenic
X	41229378	G	GT	A41229380T	USP9X	NM_001039591.3(USP9X):c.7188dup:p.Asn2397Ter	coding	Pathogenic
X	41230336	GT	G	T41230350G	USP9X	NM_001039591.3(USP9X):c.7432-151del	noncoding	Benign
X	41232219	T	TTTTTTG	G41232248T	USP9X	NM_001039591.3(USP9X):c.7528-167TTTTTG[5]	noncoding	Benign
X	41337441	C	CT	A41337442T	DDX3X	NM_001356.5(DDX3X):c.79_80insT:p.Gln27fs	coding	Pathogenic
X	41338990	G	GT	G41338997T	DDX3X	NM_001356.5(DDX3X):c.104-40dup	noncoding	Benign
X	41339048	TTCC	T	C41339054A	DDX3X	NM_001356.5(DDX3X):c.119CTC[1]:p.Pro41del	coding	Pathogenic
X	41341494	T	TA	G41341498A	DDX3X	NM_001356.5(DDX3X):c.165dup:p.Asp56fs	coding	Pathogenic
X	41341606	T	TC	A41341608C	DDX3X	NM_001356.5(DDX3X):c.275dup:p.Arg93fs	coding	Pathogenic
X	41342477	ATTGC	A	C41342481T	DDX3X	NM_001356.5(DDX3X):c.285-14_285-11del	noncoding	Benign/Likely_benign
X	41342743	C	CT	C41342748T	DDX3X	NM_001356.5(DDX3X):c.454dup:p.Ser152fs	coding	Pathogenic
X	41342743	CTT	C	T41342746C	DDX3X	NM_001356.5(DDX3X):c.453_454del:p.Ser152fs	coding	Pathogenic
X	41342780	T	TA	C41342782A	DDX3X	NM_001356.5(DDX3X):c.488dup:p.Tyr163Ter	coding	Pathogenic
X	41343314	C	CA	G41343318A	DDX3X	NM_001356.5(DDX3X):c.645dup:p.Glu216fs	coding	Pathogenic
X	41343364	CATAAG	C	T41343366G	DDX3X	NM_001356.5(DDX3X):c.679+15_679+19del	noncoding	Benign
X	41343713	ATTTG	A	G41343725T	DDX3X	NM_001356.5(DDX3X):c.680-23TTTG[2]	noncoding	Benign
X	41344088	CGA	C	A41344094T	DDX3X	NM_001356.5(DDX3X):c.830_831del:p.Glu277fs	coding	Pathogenic/Likely_pathogenic
X	41344088	CGAGA	C	A41344092T	DDX3X	NM_001356.5(DDX3X):c.828_831del:p.Arg276fs	coding	Pathogenic
X	41344222	A	AT	G41344231T	DDX3X	NM_001356.5(DDX3X):c.865-9dup	noncoding	Benign
X	41344302	A	AT	C41344305T	DDX3X	NM_001356.5(DDX3X):c.930dup:p.Arg311fs	coding	Pathogenic
X	41344414	GT	G	T41344419G	DDX3X	NM_001356.5(DDX3X):c.1025+20del	noncoding	Benign
X	41345166	TC	T	C41345167A	DDX3X	NM_001356.5(DDX3X):c.1026-13del	noncoding	Benign
X	41345383	TAAA	T	A41345386T	DDX3X	NM_001356.5(DDX3X):c.1171-18_1171-16del	noncoding	Benign
X	41345388	A	AT	C41345397T	DDX3X	NM_001356.5(DDX3X):c.1171-8dup	noncoding	Benign
X	41345388	AT	A	T41345396C	DDX3X	NM_001356.5(DDX3X):c.1171-8del	noncoding	Benign
X	41345482	CAGAA	C	A41345485T	DDX3X	NM_001356.5(DDX3X):c.1252_1255del:p.Gln417_Lys418insTer	coding	Pathogenic
X	41345482	CAG	C	G41345484A	DDX3X	NM_001356.5(DDX3X):c.1251_1252del:p.Lys418fs	coding	Pathogenic
X	41345493	TTGGG	T	G41345497A	DDX3X	NM_001356.5(DDX3X):c.1264_1267del:p.Val422fs	coding	Pathogenic
X	41345531	ACCT	A	C41345535A	DDX3X	NM_001356.5(DDX3X):c.1299CCT[1]:p.Leu435del	coding	Pathogenic
X	41346306	GGATAC	G	A41346308C	DDX3X	NM_001356.5(DDX3X):c.1395_1399del:p.Tyr466fs	coding	Pathogenic
X	41346354	G	GA	G41346357A	DDX3X	NM_001356.5(DDX3X):c.1443dup:p.Glu482fs	coding	Pathogenic
X	41346899	TACTA	T	C41346901G	DDX3X	NM_001356.5(DDX3X):c.1658_1661del:p.Thr553fs	coding	Pathogenic
X	41346900	ACTAAG	A	C41346901G	DDX3X	NM_001356.5(DDX3X):c.1658_1662del:p.Thr553fs	coding	Pathogenic
X	41346975	C	CA	C41346977A	DDX3X	NM_001356.5(DDX3X):c.1733dup:p.His578fs	coding	Pathogenic
X	41473973	G	GT	G41473975T	NYX	NM_001378477.3(NYX):c.506dup:p.Pro170fs	coding	Pathogenic
X	41474156	C	CT	G41474158T	NYX	NM_001378477.3(NYX):c.689dup:p.Leu231fs	coding	Pathogenic
X	41524044	G	GA	T41524059A	CASK	NM_001367721.1(CASK):c.2521-11dup	noncoding	Benign
X	41534769	TCC	T	C41534771A	CASK	NM_001367721.1(CASK):c.2252_2253del:p.Gly751fs	coding	Pathogenic
X	41555926	TA	T	A41555938T	CASK	NM_001367721.1(CASK):c.1807-292del	noncoding	Benign
X	41559832	T	TC	G41559838C	CASK	NM_001367721.1(CASK):c.1683dup:p.Ser562fs	coding	Pathogenic
X	41559852	AG	A	G41559859T	CASK	NM_001367721.1(CASK):c.1669-6del	noncoding	Benign
X	41561571	C	CAGTT	G41561576A	CASK	NM_001367721.1(CASK):c.1652_1655dup:p.Gln553fs	coding	Pathogenic
X	41569751	TA	T	A41569761T	CASK	NM_001367721.1(CASK):c.1504-6del	noncoding	Benign
X	41569760	A	AG	A41569761G	CASK	NM_001367721.1(CASK):c.1504-15_1504-14insC	noncoding	Benign
X	41610029	AG	A	G41610034A	CASK	NM_001367721.1(CASK):c.1034-5del	noncoding	Benign
X	41671402	A	AT	A41671415T	CASK	NM_001367721.1(CASK):c.532+25dup	noncoding	Benign
X	41671549	GAACAAACA	G	C41671556A	CASK	NM_001367721.1(CASK):c.430-27_430-20del	noncoding	Benign/Likely_benign
X	41787550	CA	C	A41787567C	CASK	NM_001367721.1(CASK):c.173-268del	noncoding	Benign
X	41922958	C	CAT	C41922961A	CASK	NM_001367721.1(CASK):c.29_30dup:p.Val11fs	coding	Pathogenic
X	43741994	TG	T	G43741999C	MAOA	NM_000240.4(MAOA):c.1214del:p.Gly405fs	coding	Pathogenic
X	43950161	A	AT	A43950170T	NDP	NM_000266.4(NDP):c.175-143dup	noncoding	Benign
X	43950277	AG	A	G43950280T	NDP	NM_000266.4(NDP):c.175-252del	noncoding	Benign
X	43958451	TCA	T	C43958454G	NDP	NM_000266.4(NDP):c.174+19_174+20del	noncoding	Benign
X	43958542	TC	T	C43958544G	NDP	NM_000266.4(NDP):c.103del:p.Asp35fs	coding	Pathogenic
X	43958579	CTG	C	G43958581A	NDP	NM_000266.4(NDP):c.65_66del:p.Thr22fs	coding	Pathogenic
X	43973478	GGAGAGAGAGAGGGA	G	G43973504A	NDP	NM_000266.3(NDP):c.-421_-408CTCTCTCTCTCTCC[1]	noncoding	Benign/Likely_benign
X	43973754	T	TAAGAGGCC	A43973765G	NDP	Single_allele	noncoding	Benign
X	44873369	T	TGCC	T44873388G	KDM6A	NM_001291415.2(KDM6A):c.-182GCC[7]	noncoding	Benign
X	44873579	A	ACCGCCGCCGCTG	T44873603G	KDM6A	NM_001291415.2(KDM6A):c.40_51dup:p.Ala14_Ala17dup	coding	Benign/Likely_benign
X	44873579	ACCGCCGCCGCTG	A	G44873591T	KDM6A	NM_001291415.2(KDM6A):c.40_51del:p.Ala14_Ala17del	coding	Benign
X	44974800	C	CT	G44974809T	KDM6A	NM_001291415.2(KDM6A):c.384+93dup	noncoding	Benign
X	45034983	AAAGT	A	A45034989T	KDM6A	NM_001291415.2(KDM6A):c.619+4_619+7del	coding	Pathogenic
X	45037794	TG	T	G45037797C	KDM6A	NM_001291415.2(KDM6A):c.654+108del	noncoding	Benign
X	45049335	TGAGTCAGATCTTTACTCTTCCTTATGATTTGTGTTTTTTTGGTCATGTCCAATAAATTCTCTCCCATCTCAAGGAAACATTCTTCTACATTTTCTTCTCTTAACTTTATACTTTTACCTTTCATATTCAGGTCTTTAATGCAGTTGCTGGTTTTGTTGTATATGGTATGAGGTAGAAATCTAATTTCATATTTCCAAATATGATGCTACCATTTTTTCAAGTAGATCATTGTTTTTATTACAGTGTTGGGAGGTATATTTTAACATTTGTTAAGATAATTCATGAAGGTGGTTTTCCTAAAATTTAAATCTGATTACATTACTTGAAATCATTCAGTGGTTCTCCATTGTTTTAGGATACAGTCAGTAGTCTTTAAATGGATTAGGGAGGTCTTTGTGAAGTAGTCTTTGCATTTTCTGTCCAGCCTGCTAGTACTCTAAACTTAATATGCGCTCGTTCTTCCTCTGAGAAGTATTATAATGTTATCATACACAGCACAATATGCTTAATTTGTTTTTCTTGTATATATTTTTCACTACTGTGTAGTCTTAGCAGTTCCTGTTATGTATTAGGTGTTTAACAAATATTTATCAATTGAAGGAATTGAATAACTTGGCCCTTATCCTTGGCCTAACTATCTAATTAACTTTTTTTAGACCAGATGAGTGTTTTGGGGGAACTAGTTTAGCTGATAAGTAAAAGTTGATTTAATAACTCTGGATCGCTGGACGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCGGGCGGATCACCTGAGGTTGGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCATTTCTACTAAAAATACAAAAGTAGGCGGGCGTGGTGGCACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGGGCGACACTCCGTCTCAAAAAAACAAACAAACGAAAAAACTGATCATCTCAATAGACAGTTCTTTCAAATCTTCCTTATGTTAGCGGTGTGTGTGTGTGTAGCTCCTTAATTGTTTCCATCATTAGGACAACCCTGTAGGTAGCAAGATTGGATATTAGCTCTTGTTTTATTGCATCAGTTTTTTATTGATGTTGAATCCTAGTTTAAGTGAATTGCCTGAGGTTCATACAGCCTAGTTTTGTATTTCTACCTACTTTTTTTTGAAAATATTTGTTTGCTCAGGCAGTTATATACTGGTAATGATATGAATAAAAGCCACTTCAATCCATTGTTCTGCCAAGTATGTTTTACAGGTAATATTTATGAGCCTTTCTTTTGTTAGTTTTTTCCTTTTGTTTTGGGGGAGTTGTCTTAAGGTTTGTAACCATAGCAATAAAGAGTTTCAGTTATATTAGTACTCTTGAGAACTGTGGCTAAATGGTTTCATTTAGACATTTGCCTGTGAAATCCTAAGTCTTACAGACATTGTTAGGCTGTAACAGAGTTTTGATGTCTTTAAAATCATATGTATTATAAATATTTTTATAAGATATTTTATATATACTAGAAACTGTATCTTTAAAATTTAGATTTTTAACTACTTTTGTACTTATTTAGATTTTGTCTACAGCATTTTTGACATGTGCTTTATTTATTTATTTAGAGACAGAGTGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACATGTGCGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTGGTGATTTGCCTGCCTCGGCCTCCCAAAGAGTTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGACATGTGCTCTATTTATTGAGTTGCTTGGGAGCTCAGTGTTTCTAGGCAGACAGATATGCACTTGGAGGTAGAATACGTCTAATGTTATTAAATAAAATTGAGACCACTTATGTTATTAAATTTCAGATGATATTGGCATTTGGAAAATTCTTAAAAGTCATACTTTAATGATACTTCGTTATAGTGAATGTCAGTTTTACTGGTGTTAGGTACTCTGGAACAAGGCTTATTACTCAACTGTCTGATGTTAAAGAAACATTCAATAATGGAATCAGCACTTTTTTCTTTTAGTTTTAAAAAATATGCTAAAACATCAGTATTGTATAATTCTTAATATATGAAGTAGTTCCTTAAAGATTATGTTAATTTTTCTCCAAATCTCTTTTTCTGTTCTTTAGAGGAAATATCATTCTGCAAAAGAAGCTTATGAACAACTTTTGCAGACAGAGAATCTTTCTGCACAAGTAAAAGCAACTGTCTTACAACAGTTAGGTATGTAATAGTATACATTTAGTGTATTATAAGTGCTTCTCTTTATGTTTTTTCCATGTCGAGTGTGGCAAATATGTGGCTCATATATTCTATTCCTTTGCTCAGAGTTGATAAAATTATTCTGAACCCAGCATATTTGTATCCTCTGCCCAGCATTGTCCTTCCCACAGTCTGTCTCAGTGTAATTCTTTAGTACAGCTGGTCCTTTTAAATTATCAAAATTACTCCCTAGTATTTAACCCAAGGAGGATTGAATACTTCGTTTGTGCCAGATATATGCTTAAGCACTTAATGAAGTTGTGATTTACCTAATGTCACTTAATGGTTGGGGAGCTTGCTTTCATAGCTTTATTAGTTATAATGACTACAAAACAATTTATCTAAAAACTGTAGAACGTCTAACACTGTGAGCATGCAGTTCTATTCTAATGTGGGACATGAGGGAATCTATTCATTTGGATGTCATGTGTAACTATCACCAAAAAGATAGTGAAAGAACTCCCCAGCCTTTAATTTTGTTGCTTAATTATTGAGTCATGTTTCTTGTTTGTATTTGATATTTGGGTTGTTTTTTCAGTTTTGTTTTTGGTCTGGGCAAATCATTTATTCTTAATTTTTAGCCAGCATTGTAGCAGTATGAATGTTTTCATAATGTAACTATTTTTACATAGTTTTAAAGTCACTTAAGCTTAGATTTTATCATTATCTTTAGATAATATACATACAAATTTAATAATTATAAATCACTGAATAAAAACAAATATTTTGACACTTTTATAACTCTTAAAAGTATAGACAACTTGAGTAAAATCCTAATGGAAAAAATTATAAACAAAACTAAGGCTTTATTATGAAGGCAATGTTTGTTTTTTCAGTCATCAAATACTTTATAGTTTGTTTGCTTATTTATTTTAGACAGAGTCTCGCTCTGTCCCCTAGGCTGGAATACAGTGTCGTGATCATAACTGCAGCCTCAAACTCCTCGGGTCAGGTGATCCCACCTCAGCCCCCCGAGTAGCTAGGGCTGCAGGCGCATGCCACCACGCCTGGCTGATTTAAAAAATTTCTTTTGTAGAGACAAGGTCTCTCTCTGTGTTGCCCAGGGTGGTCTCAAACTCCTGGCATCAAGCGATCCTTCTGCCTCAGCCTCCCCAAATTCTAGGATTACAGGTGTGAGCCACTGTGCCTGGCCTATAGTTTTATATAGGGTGCGAATATATGTAGTCAGGGCCAGTGAGGTAGGATTGTGTGTATATTTTTTAATCTGAATTATCGTTGATTCTATAGCCTTATATTTATTCCTTGGAAATAAACATTTTGTTAATGGGATATCTTGGAGATTCTTAATTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGTGGTGGGTGAATCACATGATCAGAAGATCAAGACCATCTGGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGCAAAAGAGCGAGACTCTGTCTCAGGAAAAAACAAAAAACAAAAAACACACATTAATTTAGTTTTACATGGAATAGTAAATAAGACGTAACATCTTTATATTTTTTGTTTCGTAACTTGGAATTTTTTCAGATATCAAAATTAGAAAAGTCTGATTTATAATCTGTTATATCAGTACTAAAAATTGTTTTAATTTCTCTTGAATGAAAGCCCTTTGTAGCTTTTACAGTACCTTACTGTGAGAAACTGACTTTCTTAATGGCCAGAATTGGCAGTTCTAAATTTTGGAAATATGTACTCCAAACTAAATTAATAAATTGACAGAAAAGAGTACTTTTTTGGTTTGTTTTCTGCTTCGTATTCTTAAACATAGAAGAACAATTAAGTCATTTATGTAAATTTTTTTAAATCATTTACTGTAGGTTGGATGCATCACACTGTAGATCTCCTGGGA	T	G45049338T	KDM6A	NM_001291415.2(KDM6A):c.655-2371_782del	noncoding	Pathogenic
X	45051692	CTT	C	T45051696C	KDM6A	NM_001291415.2(KDM6A):c.655-13_655-12del	noncoding	Benign/Likely_benign
X	45058976	A	AT	C45058991T	KDM6A	NM_001291415.2(KDM6A):c.876-16dup	noncoding	Benign
X	45061483	A	AT	G45061510T	KDM6A	NM_001291415.2(KDM6A):c.1581+90dup	noncoding	Benign
X	45061483	A	ATT	G45061510T	KDM6A	NM_001291415.2(KDM6A):c.1581+89_1581+90dup	noncoding	Benign
X	45061483	A	ATTT	G45061510T	KDM6A	NM_001291415.2(KDM6A):c.1581+88_1581+90dup	noncoding	Benign
X	45061483	AT	A	T45061509G	KDM6A	NM_001291415.2(KDM6A):c.1581+90del	noncoding	Benign
X	45069824	CAT	C	A45069827T	KDM6A	NM_001291415.2(KDM6A):c.2328_2329del:p.Leu777fs	coding	Pathogenic
X	45070093	ACT	A	C45070096G	KDM6A	NM_001291415.2(KDM6A):c.2597_2598del:p.Ser866fs	coding	Pathogenic
X	45076679	C	CT	C45076693T	KDM6A	NM_001291415.2(KDM6A):c.2859-5dup	noncoding	Benign/Likely_benign
X	45076679	CTT	C	T45076691C	KDM6A	NM_001291415.2(KDM6A):c.2859-6_2859-5del	noncoding	Benign/Likely_benign
X	45079188	AT	A	T45079189G	KDM6A	NM_001291415.2(KDM6A):c.3138del:p.Asn1046fs	coding	Pathogenic
X	45082730	GA	G	A45082733G	KDM6A	NM_001291415.2(KDM6A):c.3384del:p.Gly1129fs	coding	Pathogenic
X	45083173	ATTT	A	T45083176A	KDM6A	NM_001291415.2(KDM6A):c.3441-284_3441-282del	noncoding	Benign
X	45083512	G	GT	A45083514T	KDM6A	NM_001291415.2(KDM6A):c.3494dup:p.Ser1166fs	coding	Pathogenic
X	45089725	A	AT	C45089733T	KDM6A	NM_001291415.2(KDM6A):c.3705-11dup	noncoding	Benign
X	45090193	TA	T	A45090200C	KDM6A	NM_001291415.2(KDM6A):c.3892+270del	noncoding	Benign
X	45090706	G	GT	C45090718T	KDM6A	NM_001291415.2(KDM6A):c.3893-6dup	noncoding	Benign
X	45107103	AT	A	T45107105A	KDM6A	NM_001291415.2(KDM6A):c.4035-305del	noncoding	Benign
X	45107560	GT	G	T45107562G	KDM6A	NM_001291415.2(KDM6A):c.4161+26del	noncoding	Benign
X	46643401	AAAG	A	A46643409T	SLC9A7	NM_001257291.2(SLC9A7):c.1463-21CTT[2]	noncoding	Benign
X	46837089	CGGGCTGGGACCAT	C	G46837096C	RP2	NM_006915.3(RP2):c.-5_8del:p.Met1fs	noncoding	Pathogenic
X	46837111	TC	AA	T46837111A	RP2	NM_006915.3(RP2):c.11_12delinsAA:p.Phe4Ter	coding	Pathogenic
X	46837118	CAA	C	A46837119G	RP2	NM_006915.3(RP2):c.19_20del:p.Lys7fs	coding	Pathogenic
X	46853610	TAC	T	C46853612G	RP2	NM_006915.3(RP2):c.239_240del:p.Thr80fs	coding	Pathogenic
X	46853613	A	AGTTACCATTGATGACT	A46853632T	RP2	NM_006915.3(RP2):c.243_258dup:p.Thr87delinsTyrHisTer	coding	Pathogenic
X	46853620	AT	A	T46853622G	RP2	NM_006915.3(RP2):c.249del:p.Ile83fs	coding	Pathogenic
X	46853627	AC	A	C46853628T	RP2	NM_006915.3(RP2):c.255del:p.Cys86fs	coding	Pathogenic
X	46853705	CAT	C	A46853706T	RP2	NM_006915.3(RP2):c.333_334del:p.Leu112fs	coding	Pathogenic
X	46853754	CTT	C	T46853758G	RP2	NM_006915.3(RP2):c.385_386del:p.Leu129fs	coding	Pathogenic
X	46853825	AC	A	C46853826T	RP2	NM_006915.3(RP2):c.453del:p.Tyr152Ilefs*4	coding	Pathogenic
X	46853836	T	TTAGC	T46853842A	RP2	NM_006915.3(RP2):c.465_468dup:p.Phe157fs	coding	Pathogenic
X	46853880	TACATGGAGTA	T	G46853885T	RP2	NM_006915.3(RP2):c.512_521del:p.Trp171fs	coding	Pathogenic
X	46853884	TG	T	G46853886A	RP2	NM_006915.3(RP2):c.513del:p.Thr170_Trp171insTer	coding	Pathogenic
X	46853892	C	CGTTA	A46853893G	RP2	NM_006915.3(RP2):c.519_520insGTTA:p.Ile174fs	coding	Pathogenic
X	46853914	TCA	T	C46853915G	RP2	NM_006915.3(RP2):c.542_543del:p.Ser181fs	coding	Pathogenic
X	46853975	T	TA	C46853977A	RP2	NM_006915.3(RP2):c.603dup:p.Pro202fs	coding	Pathogenic
X	46854090	AT	A	T46854092A	RP2	NM_006915.3(RP2):c.719del:p.Leu240fs	coding	Pathogenic
X	46854108	CA	C	A46854109C	RP2	NM_006915.3(RP2):c.736del:p.Thr246fs	coding	Pathogenic
X	46860018	AC	A	C46860019A	RP2	NM_006915.3(RP2):c.800del:p.Thr267fs	coding	Pathogenic
X	46860054	AG	A	G46860057T	RP2	NM_006915.3(RP2):c.838del:p.Val280fs	coding	Pathogenic
X	46860057	GT	G	T46860062C	RP2	NM_006915.3(RP2):c.843del:p.Arg282fs	coding	Pathogenic
X	46860066	G	GA	G46860072A	RP2	NM_006915.3(RP2):c.852dup:p.Ala285fs	coding	Pathogenic
X	46860079	ACTTC	A	T46860086C	RP2	NM_006915.3(RP2):c.867_870del:p.Pro290fs	coding	Pathogenic
X	46877703	G	GGTGTGT	T46877734G	RP2	NM_006915.3(RP2):c.969+114GT[18]	noncoding	Benign
X	46877703	G	GGT	T46877734G	RP2	NM_006915.3(RP2):c.969+114GT[16]	noncoding	Benign
X	47147662	C	CCTGTGCT	A47147670C	RBM10	NM_005676.5(RBM10):c.17+165_17+171dup	noncoding	Benign
X	47176714	G	GTC	A47176745T	RBM10	NM_005676.5(RBM10):c.663+129TC[16]	noncoding	Benign
X	47176714	G	GTCTC	A47176745T	RBM10	NM_005676.5(RBM10):c.663+129TC[17]	noncoding	Benign
X	47186282	C	CG	C47186286G	RBM10	NM_005676.5(RBM10):c.2565dup:p.Leu856fs	coding	Pathogenic
X	47199197	CT	C	T47199198A	UBA1	NM_003334.4(UBA1):c.177-11del	noncoding	Benign
X	47203747	C	CT	G47203765T	UBA1	NM_003334.4(UBA1):c.1575+68dup	noncoding	Benign
X	47203747	C	CTT	G47203765T	UBA1	NM_003334.4(UBA1):c.1575+67_1575+68dup	noncoding	Benign
X	47574301	T	TG	C47574308G	SYN1	NM_006950.3(SYN1):c.1682dup:p.Gln562fs	coding	Pathogenic
X	47574577	C	CT	G47574579T	SYN1	NM_006950.3(SYN1):c.1406dup:p.Pro470fs	coding	Pathogenic
X	47575166	GT	G	T47575167C	SYN1	NM_006950.3(SYN1):c.1266del:p.Gln423fs	coding	Pathogenic
X	47575171	T	TGCCG	G47575177C	SYN1	NM_006950.3(SYN1):c.1258_1261dup:p.Gln421fs	coding	Pathogenic
X	47575266	A	AC	A47575270C	SYN1	NM_006950.3(SYN1):c.1166dup:p.Ser390fs	coding	Pathogenic
X	47604892	GC	G	C47604893A	SYN1	NM_006950.3(SYN1):c.774+85del	noncoding	Benign
X	47607141	CTG	C	G47607143T	SYN1	NM_006950.3(SYN1):c.433_434del:p.Gln145fs	coding	Pathogenic
X	47619606	TC	T	C47619608G	SYN1	NM_006950.3(SYN1):c.122del:p.Gly41fs	coding	Pathogenic
X	47626847	GGCACAGGGTGATTGCACGT	G	G47626848C	CFP	NM_001145252.3(CFP):c.847_865del:p.Thr283fs	coding	Pathogenic
X	48478103	ATGGC	A	T48478108G	FTSJ1	NM_012280.4(FTSJ1):c.61_64del:p.Trp21fs	coding	Pathogenic
X	48478167	AG	A	G48478169T	FTSJ1	NM_012280.4(FTSJ1):c.121+1del	coding	Pathogenic
X	48479103	CG	C	G48479107C	FTSJ1	NM_012280.4(FTSJ1):c.352del:p.Ala118fs	coding	Pathogenic
X	48509868	CTGTCTCCTGCCTACTGCCCAGCAGGGCCTTGA	C	T48509869C	PORCN	NM_203475.3(PORCN):c.49_80del:p.Cys17fs	coding	Pathogenic
X	48514624	CTG	C	T48514627A	PORCN	NM_203475.3(PORCN):c.946+2_946+3del	coding	Pathogenic
X	48523711	C	CT	A48523730T	EBP	NM_006579.3(EBP):c.-43dup	noncoding	Benign
X	48523711	C	CTT	A48523730T	EBP	NM_006579.3(EBP):c.-44_-43dup	noncoding	Benign
X	48523873	CCTCTT	C	T48523878G	EBP	NM_006579.3(EBP):c.107_111del:p.Phe36fs	coding	Pathogenic
X	48681722	CAGCAGGTTGGAGGTGCTCCAGGCCCGAAGCTTAGCTGTGAGTGGGGACACGGGAGGGAGGTTGGAACTGCCACTGCAGAAGGGGTTCTGAACCTAGGTTCAGGAGAGAGGCTTTGAACCTGCACGTGTGGGAAGCCATGGAAGTTTCCAGGAAGGACTGCAGGTCCCAACTGGAGATGTGCCGTTCCTCCTTCAGGTACCTGGGAATGTCAGTCACACCCCAGACCTGCTCAGCTCCCCCAAACTGCTGTTCCTGTATCTGAGAGCTTCAAGTCTCCAAATGGCCTACCTCATACATGGGGAAACTGAGGCCTGGGGAGGCCGGGGACTGAGCTAGCATTCACTTGTGGAAATAGTCTGGCATCATCTGGAGAAGTTAGAGACATGCAAACCCTACAGCCCTCAGATTCCCGTCTGAGAGTCTGCATGCCTATGTGGACCAGGAGATGTGTGCGGGAGTGAACACTGCAGTGTTGCTCCCAACAGCAAGAACCAGAAGCAGCCCAAAGGGCTGTTACAGGAGAATATGGACACCCAGGCTGCACATGCACACCATGGAATGCTGTATGGCAGTGGAAATAAATGAACAGCTACCACTATAGGCAAACAGGAATCACAGCAACAGCCAAGAGTGAAGGCGTGGAGGGACGAGACCATGCACTCACACCTGGCCTGCCTGGCTCGCACTCCGGGCAAAGGGGTCAGAACAGTGACTGGCACACACGTTAAGTGCTATGTGAGTGTTAAGATAAAACTAGGATGTCCAGTGGGGAGAAAGCAAGCCTTTGAAGATTATGTGCTTTTACAAACTTCAAGTGCAATGAAAACTAAACAAGATGTTGTTCAGGCATTCATATATGATATAAAGTTCCTTTCTTTAAAAAAGGGATGGGCTGGGCACGGTGGCTCACGCCTGTAATTCTAATACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCGAGAAATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAGAAAAAAAAAAGTATGACAAGCAGAAAGTAATTTGGGAGCTGCGGGGAGGCAAGGGTAAGGGATGGGGAAGTGGACCAGAGGCATATGCGTCATTGGCAGTGTCTAAGCACTCACGATAGGCGTGGATCACAGGGGCTCGCTCTGTAATTAAAAGGAAAAGGGTTTTTGTTGTGTTGTTGTTGTTGCTGTTTTTGAGACAAGGGTCTTGCTCTGTCATCATCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTAGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTGGAAATGGGGTTTTGCCATGTTGCCCAGGCTCGTCTTGAACTCCTGACCTCAAGTGATCCACTCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTCCCCAGCCAAAAGGAAAAGTTTTACTGTAGTAACCCTTCCGGACTAGGGACCTCGGGCCTCAGCCTCAGGCTACCTAGGTGCTTTAGAAAGGAGGCCACCCAGGCCCATGACTACTCCTTGCCACAGGGAGCCCTGCACACAGATGTGCTAAGCTCTCGCTGCCAGCCAGAGGGAGGAGGGTCTGAGCCAGTCAGAAGGAGATGGGCCCCAGAGAGTAAGAAAGGGGGAGGAGGACCCAAGCTGATCCAAAAGGTGGGTCTAAGCAGTCAAGTGGAGGAGGGTTCCAATCTGATGGCGGAGGGCCCAAGCTCAGCCTAACGAGGAGGCCAGGCCCACCAAGGGGCCCCTGGAGGACTTGTTTCCCTTGTCCCTTGTGGTTTTTTGCATTTCCTGTTCCCTTGCTGCTCATTGCGGAAGTTCCTCTTCTTACCCTGCACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCCACCGTTTCTTCCTCTTCCTCTCCTCCTTCTCTCTCTTCCCCTCCTCCCGCTCCTCCTTTCCCTCTCCATCATCTCCTCTCCTAGAATTTCCCGTCATAATCCACCCTTCCCAGGAAGATCTCAATGTCTACTTGCCTTCCCTCTGGCTGCAGCTCTTCCTTTGGGCCCATGACTGTCATGAGGCAGGAAGGACCAGGTCTGGCTCCAAGACCTTGTGGCTACCCCTGACCAGACTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAAGCCAGTTCTCAACCCGCAAACCCAGATCTGTGTCCATATGTGTCCATAGCTTCAAGACCTCAGACCTGATCAGTGAATCCCTGAGCCCCAGAACCAAAGACTCATCCAGATGGCAAACTCTGACTTGCCTTTCTAAGTCTGCAATGACTGGCCCCAGTCTCCGTATCAAGATCTCTAAAGCCCCCAGTATTAGTCTGCTGCCTAAGCCTAATCTTTTCCACAAATTCCAATAAATGAGCACTGTATTTGTACCTGAACCTCAAATCTATTCTAAACTCAACATTTTGCATCCCAGGAATCTCTCATCAAAACTCCTGAACCCCAGATGTTTGCCAAGCTCCTAAGTCATAAATCTGTTCAACAAACCCCAAAGTTGAATATTCCATTGATCCTTGAACTCCAAATCTGTCCTTCTAAATCCACAGCACAGACCCCAGAGTTCCCATATTAAAATTCCTGAACACTCAAATACCGAGGTAGTTCTTAAGCAAAAAGTCTTTTCCACAATCCCCTGACCTGAACTTTCTAGGTTTAAGCCCCAAATTCATCCTTTTAAACCCATAAAGATGGACCCAGCATAACTTCCAGATCCCAAGGCTATCAAATATCCACCAAACTCCTAAACCATAACTCTCTCCACAAACCCCAAATTGCACTTACTTTAGCTGGACTCCCCGCGAAACTCCCAAGTCTATGTGTCTGAACTTCAAATCTCAACTCCAACCCCCAAATACTAGAATCCTACCTGTCATGAATTGGGGCTGGGGTGGTGGGGGAGGGCATGGATTGAATCTGTGAATGAGCCTCAACTTCCTAAGACTAGAGTCCTAAATTATGAAATTCAAGCCCCCAAGTCCCAGATCTAGGGCCCCAAACCCCAAATCCAAACCTCTCACAAAAGTGTATGGCTCCCAGACTATACCCCACAATCCACACCCTTAGACACCAACTCTCTGGTGCTGAGCTGAAAATCTCCAAACCAGACTATGAGGCTCCCAAATCCAGACACCCTGCTCCCTGCCCAGCTAACAAAAGCCTGCCACCCCCGGCGTGCCTCAGTGCCACTGTGCCTCCCACCCTACACCTCTCCAGGCTGGTCGGCTGCTCTGGGAACAGGAGCTGTACTCACAGCTTGTCTACTCCACCCCCACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACTTGGGGTGTGGAGAGGAGATGGGAAAGTTGCGGGGGACCTGGGAGGCGGCTGACCCCAAGGTATGTGCAGGACTGCCAAGCGGGGCTGAACTTTGCAGACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAAAAAAGGAATCAGAGGCAAAGTGGAGGTGAGGAGGCCACAGGGGAGGAAAGGAAGTTGGGCAGAGGTGAGTGCAAGCCTGGGGAACTAGAAAAGTCCCCTCTCATGGTCCTGGCTCCCAATCCATCTATCCACAGACAGACGCCAGCTACCCCCACCACCAACACCAGCCAATGAAGGTGAGTCCTCTAGTGCAAGTAGGGGTAATAAGGGGCTAGCCCAGGAACCTGTGGCAGGGCTGTGATAACTCTCTACACATTCCATCTTCCCAGAGAGAAGAGGAGGGCTCCCACCCCTGCCCCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGATGGGTAAGAGTGGATGGAGGAATGAGGAGTTGGATGGGTGCGTAAGTGGGTGAATGGATAGGTAGATTGATAGGTATGTGGATGGACGAGCAGGTGCATGGATGTGTGGACTGATGGATGGGTGGATGGATTGGCGGTAGATGGCTGAGTAGAGGGATGAATTGATGGGAGGATGAAAGTCTAAGTAGATAGATGCATAGGTGAATGGGTATGTGGATAAATGAATGAAAAGGTAGATGGATGACTGAGTAAATTAATCAATGAGTGAATGAATGAACAGTGAATAAATGACTAAATGACAAGTTTCAGTCAGTGAAGAAAGCATGATTGAATGAATAAATGAGTAAATGAATATTTTAACAAATTCATTAGTCAATGAGCCAGTGAATGATAAAGCATGAGGGAATGAAAACATGAATGAATCAGTGAATGTATGAATGGTTTGTGGGATCCACCCACTTCTCCATAGACCCTACTTGAACCCTTCACCCACTACCTCCATGACCATCCAACACACACACAGATTTCCCTCAAGGCTTCCGTTTCTTGCCCCTGTGCTTTGGTTGGTTGGTAAGTGGGTCAATGAGCCAACCACCCTATTTTCCCCACAGGCCCTCCAGTGGGTCCGCTCTCCCTGGGGCTGGCGACAGTGGACATCCAGAACCCTGACATCACGAGTTCACGATACCGTGGGCTCCCAGCACCTGGACCTAGCCCAGCTGATAAGAAACGCTCAGGGAAGAAGAAGATCAGCAAAGCTGATATTGGTGCACCCAGTGGATTCAAGTGAGAGCCACTCCCCAGTGGACCCACAGATTCCTGGGGGCAGAGGGGCACATGAACAAGTGGACAGCTGAGTGAATGGAAGGATGGGCAGATGGGCAGATGGCTGGGTGGCTGAGTGGGTAAATGGGTGGTTGGATAGGTAGGTGCAGGGCTGGGTCTAGGGAGAGGTAAATAAGGCACCAAGGGTACAAAATTTAAGGAGGCACTCACTCTCAGAGGCATGCAACTGTAATTCCTGACTCTCAGAGTGAGTGACTCACTTAAATTTTGCACCCTAGGCACCTTACTTGCCTCACCCTGGGCCCACTCTGGGTGGGCTGTTAGGAGAGCAGGTGGGTGGGCAGGTGAACAAATGGATAGATAGATGAGGTAGATGATGGATGAGAAGGGCTGGTGGGTAGGTGGGTGAGTGGATGGGTGGATGGATGGATAAATGAATGGATGAATGAATGGGTTGAAGAATGAATGGATAAGTGGTTGGATGGACAAGTTTATGGGTGGATGGGTTGATGGGAGGTGCGTGGATAGATAGATGGGTGAGTGGATAGGTGTGTGGACAGATTGATATGCAGGCTGATTGGCTCACAGACAAGGTGGATGGGGATGGACAGGTGGACAGATACGTGGATGAATGGACAGTTCAATGGATAAGTGAACAGAAGTGTGTGGTTGCATGGGTAGAAAAATGAGTGGATGGATAGATGGAAAGGTGGGCACATGGGTAGGTGGATGGGTGGATGGACAAGTGTGTGTGAGGACAGACTGGTGGACAAATGGGTGAACAGACATATGTGGGCAGATAGTTGCAGAGACAGATGTATGGACAGATCAGTAGTCCAACAGATGAATGTGAATGAATAGGTGGACAAATGCATGGGATAGATGGGGAAAGAGGGATGGGTGGATGGATCAGCACCACAAACTATGGAGCCCTTCTAATTCCATAACTCCTGCCTATACTCATTCACTCATTCAGTCTCATTCATTAATTCTGGCCCCTCAGAGTCTCTTTGGGCAGGAGAGGGCAAGAGGGTTTCACTATGAAGGGAGGGAAGGAAGGGCAGTGAGGATTCACTGGAGTCTCTTCA	TGAAGAGACTCCAGTGAATCCTCACTGCCCTTCCTTCCCTCCCTTCATAGTGAAACCCTCTTGCCCTCTCCTGCCCAAAGAGACTCTGAGGGGCCAGAATTAATGAATGAGACTGAATGAGTGAATGAGTATAGGCAGGAGTTATGGAATTAGAAGGGCTCCATAGTTTGTGGTGCTGATCCATCCACCCATCCCTCTTTCCCCATCTATCCCATGCATTTGTCCACCTATTCATTCACATTCATCTGTTGGACTACTGATCTGTCCATACATCTGTCTCTGCAACTATCTGCCCACATATGTCTGTTCACCCATTTGTCCACCAGTCTGTCCTCACACACACTTGTCCATCCACCCATCCACCTACCCATGTGCCCACCTTTCCATCTATCCATCCACTCATTTTTCTACCCATGCAACCACACACTTCTGTTCACTTATCCATTGAACTGTCCATTCATCCACGTATCTGTCCACCTGTCCATCCCCATCCACCTTGTCTGTGAGCCAATCAGCCTGCATATCAATCTGTCCACACACCTATCCACTCACCCATCTATCTATCCACGCACCTCCCATCAACCCATCCACCCATAAACTTGTCCATCCAACCACTTATCCATTCATTCTTCAACCCATTCATTCATCCATTCATTTATCCATCCATCCACCCATCCACTCACCCACCTACCCACCAGCCCTTCTCATCCATCATCTACCTCATCTATCTATCCATTTGTTCACCTGCCCACCCACCTGCTCTCCTAACAGCCCACCCAGAGTGGGCCCAGGGTGAGGCAAGTAAGGTGCCTAGGGTGCAAAATTTAAGTGAGTCACTCACTCTGAGAGTCAGGAATTACAGTTGCATGCCTCTGAGAGTGAGTGCCTCCTTAAATTTTGTACCCTTGGTGCCTTATTTACCTCTCCCTAGACCCAGCCCTGCACCTACCTATCCAACCACCCATTTACCCACTCAGCCACCCAGCCATCTGCCCATCTGCCCATCCTTCCATTCACTCAGCTGTCCACTTGTTCATGTGCCCCTCTGCCCCCAGGAATCTGTGGGTCCACTGGGGAGTGGCTCTCACTTGAATCCACTGGGTGCACCAATATCAGCTTTGCTGATCTTCTTCTTCCCTGAGCGTTTCTTATCAGCTGGGCTAGGTCCAGGTGCTGGGAGCCCACGGTATCGTGAACTCGTGATGTCAGGGTTCTGGATGTCCACTGTCGCCAGCCCCAGGGAGAGCGGACCCACTGGAGGGCCTGTGGGGAAAATAGGGTGGTTGGCTCATTGACCCACTTACCAACCAACCAAAGCACAGGGGCAAGAAACGGAAGCCTTGAGGGAAATCTGTGTGTGTGTTGGATGGTCATGGAGGTAGTGGGTGAAGGGTTCAAGTAGGGTCTATGGAGAAGTGGGTGGATCCCACAAACCATTCATACATTCACTGATTCATTCATGTTTTCATTCCCTCATGCTTTATCATTCACTGGCTCATTGACTAATGAATTTGTTAAAATATTCATTTACTCATTTATTCATTCAATCATGCTTTCTTCACTGACTGAAACTTGTCATTTAGTCATTTATTCACTGTTCATTCATTCACTCATTGATTAATTTACTCAGTCATCCATCTACCTTTTCATTCATTTATCCACATACCCATTCACCTATGCATCTATCTACTTAGACTTTCATCCTCCCATCAATTCATCCCTCTACTCAGCCATCTACCGCCAATCCATCCACCCATCCATCAGTCCACACATCCATGCACCTGCTCGTCCATCCACATACCTATCAATCTACCTATCCATTCACCCACTTACGCACCCATCCAACTCCTCATTCCTCCATCCACTCTTACCCATCCATCCAGAGACACAGGGAAGAATCAGCACGCACCTCCTTGGTCTCCACCTGGATGCAGGGGCAGGGGTGGGAGCCCTCCTCTTCTCTCTGGGAAGATGGAATGTGTAGAGAGTTATCACAGCCCTGCCACAGGTTCCTGGGCTAGCCCCTTATTACCCCTACTTGCACTAGAGGACTCACCTTCATTGGCTGGTGTTGGTGGTGGGGGTAGCTGGCGTCTGTCTGTGGATAGATGGATTGGGAGCCAGGACCATGAGAGGGGACTTTTCTAGTTCCCCAGGCTTGCACTCACCTCTGCCCAACTTCCTTTCCTCCCCTGTGGCCTCCTCACCTCCACTTTGCCTCTGATTCCTTTTTTGTATCTTCTCCTGCACGAGGGCCCGGAAGGCCTGGGCCTCGTCCTCGTCTGCAAAGTTCAGCCCCGCTTGGCAGTCCTGCACATACCTTGGGGTCAGCCGCCTCCCAGGTCCCCCGCAACTTTCCCATCTCCTCTCCACACCCCAAGTGAGGCCCGAGGGCTGGTTGATCACTTACATCTCCAGCGAAGGTGTGGAAGAAGGGGGTGGGGGTGGAGTAGACAAGCTGTGAGTACAGCTCCTGTTCCCAGAGCAGCCGACCAGCCTGGAGAGGTGTAGGGTGGGAGGCACAGTGGCACTGAGGCACGCCGGGGGTGGCAGGCTTTTGTTAGCTGGGCAGGGAGCAGGGTGTCTGGATTTGGGAGCCTCATAGTCTGGTTTGGAGATTTTCAGCTCAGCACCAGAGAGTTGGTGTCTAAGGGTGTGGATTGTGGGGTATAGTCTGGGAGCCATACACTTTTGTGAGAGGTTTGGATTTGGGGTTTGGGGCCCTAGATCTGGGACTTGGGGGCTTGAATTTCATAATTTAGGACTCTAGTCTTAGGAAGTTGAGGCTCATTCACAGATTCAATCCATGCCCTCCCCCACCACCCCAGCCCCAATTCATGACAGGTAGGATTCTAGTATTTGGGGGTTGGAGTTGAGATTTGAAGTTCAGACACATAGACTTGGGAGTTTCGCGGGGAGTCCAGCTAAAGTAAGTGCAATTTGGGGTTTGTGGAGAGAGTTATGGTTTAGGAGTTTGGTGGATATTTGATAGCCTTGGGATCTGGAAGTTATGCTGGGTCCATCTTTATGGGTTTAAAAGGATGAATTTGGGGCTTAAACCTAGAAAGTTCAGGTCAGGGGATTGTGGAAAAGACTTTTTGCTTAAGAACTACCTCGGTATTTGAGTGTTCAGGAATTTTAATATGGGAACTCTGGGGTCTGTGCTGTGGATTTAGAAGGACAGATTTGGAGTTCAAGGATCAATGGAATATTCAACTTTGGGGTTTGTTGAACAGATTTATGACTTAGGAGCTTGGCAAACATCTGGGGTTCAGGAGTTTTGATGAGAGATTCCTGGGATGCAAAATGTTGAGTTTAGAATAGATTTGAGGTTCAGGTACAAATACAGTGCTCATTTATTGGAATTTGTGGAAAAGATTAGGCTTAGGCAGCAGACTAATACTGGGGGCTTTAGAGATCTTGATACGGAGACTGGGGCCAGTCATTGCAGACTTAGAAAGGCAAGTCAGAGTTTGCCATCTGGATGAGTCTTTGGTTCTGGGGCTCAGGGATTCACTGATCAGGTCTGAGGTCTTGAAGCTATGGACACATATGGACACAGATCTGGGTTTGCGGGTTGAGAACTGGCTTGCAAGTCCAGTCGGGGGTGGGGGGGTCACCTGAAGGCCGTAAAGGCGGATGAAGTAGGACTTCTGGGGGTTATCCTTCACGAAGCACACAGCCCCACAATGCTCCTTGGTCCAGTGCTCAGCTCCAGGGGGCAGCGCCAGGTACAGCTGAACAACTGCAGTGGCCAGCGTCTGGGAGAGGAAAGCAGGGGTCAGTGGAGTCTGGTCAGGGGTAGCCACAAGGTCTTGGAGCCAGACCTGGTCCTTCCTGCCTCATGACAGTCATGGGCCCAAAGGAAGAGCTGCAGCCAGAGGGAAGGCAAGTAGACATTGAGATCTTCCTGGGAAGGGTGGATTATGACGGGAAATTCTAGGAGAGGAGATGATGGAGAGGGAAAGGAGGAGCGGGAGGAGGGGAAGAGAGAGAAGGAGGAGAGGAAGAGGAAGAAACGGTGGGGACGGGGCGGGGGCAGGAGATCCCCAGCTCACCAAGCATTTTCGTCCAAGCATCTCAAAGAGTCGCTGGTTCTCGTGGTCCTGGAGGAGGGTGGAGGGTATGTTCTGCTGAACCGCTGGTGCTCCTCGGCCCCCGGGCCTTCCTCCCATTGGGCCCCCACTCATGGTGCTTTCTGCCCTTGTCTTCTCTGGCGAGGCTCTGGGTGCAGGGTAAGAAGAGGAACTTCCGCAATGAGCAGCAAGGGAACAGGAAATGCAAAAAACCACAAGGGACAAGGGAAACAAGTCCTCCAGGGGCCCCTTGGTGGGCCTGGCCTCCTCGTTAGGCTGAGCTTGGGCCCTCCGCCATCAGATTGGAACCCTCCTCCACTTGACTGCTTAGACCCACCTTTTGGATCAGCTTGGGTCCTCCTCCCCCTTTCTTACTCTCTGGGGCCCATCTCCTTCTGACTGGCTCAGACCCTCCTCCCTCTGGCTGGCAGCGAGAGCTTAGCACATCTGTGTGCAGGGCTCCCTGTGGCAAGGAGTAGTCATGGGCCTGGGTGGCCTCCTTTCTAAAGCACCTAGGTAGCCTGAGGCTGAGGCCCGAGGTCCCTAGTCCGGAAGGGTTACTACAGTAAAACTTTTCCTTTTGGCTGGGGACAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGGCAACATGGCAAAACCCCATTTCCACTAAAAAATACAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGATGATGACAGAGCAAGACCCTTGTCTCAAAAACAGCAACAACAACAACACAACAAAAACCCTTTTCCTTTTAATTACAGAGCGAGCCCCTGTGATCCACGCCTATCGTGAGTGCTTAGACACTGCCAATGACGCATATGCCTCTGGTCCACTTCCCCATCCCTTACCCTTGCCTCCCCGCAGCTCCCAAATTACTTTCTGCTTGTCATACTTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTATTAGAATTACAGGCGTGAGCCACCGTGCCCAGCCCATCCCTTTTTTAAAGAAAGGAACTTTATATCATATATGAATGCCTGAACAACATCTTGTTTAGTTTTCATTGCACTTGAAGTTTGTAAAAGCACATAATCTTCAAAGGCTTGCTTTCTCCCCACTGGACATCCTAGTTTTATCTTAACACTCACATAGCACTTAACGTGTGTGCCAGTCACTGTTCTGACCCCTTTGCCCGGAGTGCGAGCCAGGCAGGCCAGGTGTGAGTGCATGGTCTCGTCCCTCCACGCCTTCACTCTTGGCTGTTGCTGTGATTCCTGTTTGCCTATAGTGGTAGCTGTTCATTTATTTCCACTGCCATACAGCATTCCATGGTGTGCATGTGCAGCCTGGGTGTCCATATTCTCCTGTAACAGCCCTTTGGGCTGCTTCTGGTTCTTGCTGTTGGGAGCAACACTGCAGTGTTCACTCCCGCACACATCTCCTGGTCCACATAGGCATGCAGACTCTCAGACGGGAATCTGAGGGCTGTAGGGTTTGCATGTCTCTAACTTCTCCAGATGATGCCAGACTATTTCCACAAGTGAATGCTAGCTCAGTCCCCGGCCTCCCCAGGCCTCAGTTTCCCCATGTATGAGGTAGGCCATTTGGAGACTTGAAGCTCTCAGATACAGGAACAGCAGTTTGGGGGAGCTGAGCAGGTCTGGGGTGTGACTGACATTCCCAGGTACCTGAAGGAGGAACGGCACATCTCCAGTTGGGACCTGCAGTCCTTCCTGGAAACTTCCATGGCTTCCCACACGTGCAGGTTCAAAGCCTCTCTCCTGAACCTAGGTTCAGAACCCCTTCTGCAGTGGCAGTTCCAACCTCCCTCCCGTGTCCCCACTCACAGCTAAGCTTCGGGCCTGGAGCACCTCCAACCTGCTG	C48681722T	WAS	NC_000023.11:g.48681722_48688043inv	noncoding	Pathogenic
X	48684321	GC	G	C48684326T	WAS	NM_000377.3(WAS):c.176del:p.Pro59fs	coding	Pathogenic
X	48684326	CT	C	T48684327G	WAS	NM_000377.3(WAS):c.177del:p.Gly60fs	coding	Pathogenic
X	48685604	AC	A	C48685609T	WAS	NM_000377.3(WAS):c.336del:p.Phe113fs	coding	Pathogenic
X	48686113	C	CA	T48686115A	WAS	NM_000377.3(WAS):c.539dup:p.His180fs	coding	Pathogenic
X	48686772	T	TC	A48686777C	WAS	NM_000377.3(WAS):c.560-5dup	noncoding	Benign
X	48686941	AC	A	C48686944A	WAS	NM_000377.3(WAS):c.723del:p.Ser242fs	coding	Pathogenic/Likely_pathogenic
X	48686944	CA	C	A48686945G	WAS	NM_000377.3(WAS):c.724del:p.Ser242fs	coding	Pathogenic
X	48688068	T	TG	T48688073G	WAS	NM_000377.3(WAS):c.753dup:p.Trp252fs	coding	Pathogenic
X	48688323	GC	G	C48688324G	WAS	NM_000377.3(WAS):c.802del:p.Arg268fs	coding	Pathogenic
X	48688332	G	GTTCTCCAGGGCAGGAATGGGCC	C48688350G	WAS	NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT:p.Ile276fs	coding	Pathogenic
X	48688717	CT	C	T48688718A	WAS	NM_000377.3(WAS):c.990del:p.Ile331fs	coding	Pathogenic
X	48688749	C	CT	C48688750T	WAS	NM_000377.3(WAS):c.1021_1022insT:p.Pro341fs	coding	Pathogenic
X	48688808	AC	A	C48688813A	WAS	NM_000377.3(WAS):c.1085del:p.Pro362fs	coding	Pathogenic
X	48688880	AC	A	C48688885T	WAS	NM_000377.3(WAS):c.1157del:p.Pro386fs	coding	Pathogenic/Likely_pathogenic
X	48791018	A	AG	A48791022G	GATA1	NM_002049.4(GATA1):c.-19-70dup	noncoding	Benign
X	48791111	T	TG	A48791114G	GATA1	NM_002049.4(GATA1):c.4dup:p.Glu2fs	coding	Pathogenic
X	48791157	CCA	C	C48791158G	GATA1	NM_002049.4(GATA1):c.49_50del:p.Gln17fs	coding	Pathogenic
X	48791198	CAG	C	A48791199G	GATA1	NM_002049.4(GATA1):c.90_91del:p.Val32fs	coding	Pathogenic
X	48791210	T	TC	T48791215C	GATA1	NM_002049.4(GATA1):c.105dup:p.Ser36fs	coding	Pathogenic
X	48791218	G	GGGCCTGGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGC	A48791225G	GATA1	NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG:p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer	coding	Pathogenic
X	48791248	T	TCCACTGCC	G48791259A	GATA1	NM_002049.4(GATA1):c.142_149dup:p.Ser51fs	coding	Pathogenic
X	48791260	AGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTAC	T	A48791260T	GATA1	NM_002049.4(GATA1):c.151_186delinsT:p.Ser51fs	coding	Pathogenic
X	48791265	A	AGT	C48791267T	GATA1	NM_002049.4(GATA1):c.157_158insTG:p.Ala53fs	coding	Pathogenic
X	48791267	C	CCACCGCTGCAGCT	G48791281C	GATA1	NM_002049.4(GATA1):c.159_171dup:p.Ala58fs	coding	Pathogenic
X	48791280	T	TGCCGCTGC	G48791283C	GATA1	NM_002049.4(GATA1):c.173_174insCGCTGCGC:p.Leu60fs	coding	Pathogenic
X	48791282	C	CGGCACTGGCCTACTACAGG	A48791303G	GATA1	NM_002049.4(GATA1):c.175_193dup:p.Asp65fs	coding	Pathogenic
X	48791299	AGGGAC	A	G48791301C	GATA1	NM_002049.4(GATA1):c.192_196del:p.Arg64fs	coding	Pathogenic
X	48791327	CA	C	A48791328G	GATA1	NM_002049.4(GATA1):c.219del:p.Val74fs	coding	Pathogenic
X	48791851	G	GGT	A48791856G	GATA1	NM_002049.4(GATA1):c.231_232dup:p.Tyr78fs	coding	Pathogenic
X	48792303	TCTC	T	C48792307T	GATA1	NM_002049.4(GATA1):c.599-16_599-14del	noncoding	Benign
X	48901293	CCCTT	C	T48901297G	PQBP1	NM_001032382.2(PQBP1):c.175_178del:p.Ser59fs	coding	Pathogenic
X	48902514	AAG	A	A48902515G	PQBP1	NM_001032382.2(PQBP1):c.575_576del:p.Lys192fs	coding	Pathogenic
X	48902776	TCA	T	C48902777T	PQBP1	NM_001032382.2(PQBP1):c.623_624del:p.Ser208fs	coding	Pathogenic/Likely_pathogenic
X	48905127	CG	C	G48905130T	SLC35A2	NM_005660.3(SLC35A2):c.781del:p.Arg261fs	coding	Pathogenic
X	48905248	CAAAGT	C	A48905250G	SLC35A2	NM_005660.3(SLC35A2):c.656_660del:p.Val218_Tyr219insTer	coding	Pathogenic
X	48905307	GC	G	C48905311A	SLC35A2	NM_005660.3(SLC35A2):c.601del:p.Ala201fs	coding	Pathogenic
X	48909812	ACCCCTCTTCTGTGCGAAGAGCAGCAGCAGGCAGGTGAGACCTTTGAGCACTTCCGCCATGACCACAGCAGTGGTGGCAAAGAAGCGGTCCCCTGGCAACGTGCGGGCGTAGCGGATGCTGAGGATGAGGGAGGCATTCTGGACCACCAGCACAGCTAGGGATATGTACTTCAGGCGCCTGTGAGCTGTGGGGAACGGAAGGGGCAAGGGGGAAGGACGGGGTCAGAAGCCGCTGGGGCATAGCCACACCACCACCCACCCCCTTTCTTTCTCACCCAGGACCCTCCTAGCCATGGCTACTTGCTCCCTCAGCCTGCCTGCCCTCACCCAATAAGGGTCTGACTCCTACCGGCTTACTGCCTCAGCCATGAGCAGGAAGAGCCAGAAGGGAGAAATGGGCCCCACCCTGTCCCAGTCCATACCTGGAATCCTTACTGAGGTGTCAGGTAATGGCTGAGGCAAACCCTGGCCACGCGCCTCGGCTTCCTCCCAAGTGAGAAGCAACTCTTCCCCAGAAAGAATACCGACAACTACATTCTCCACGTTTATTGAGTGTTTACTGTATGCCTATCACTGGGTTAAGGGATTTCTATGGATTACCTCAATAGACTCATATCACTGTCATCTCCAAAAGAACTGCGAGGATTCCCATTTATGGATTAGCAAACTGAGAATTTATATGAAATGATGCTCCTGTTTAATGAGGGACTGTCTCATGTAAAGAATAACACATCAATGCAGGGAATGAGGCCACTGTATGAGGTATGTTCACCCCCTAAGAACGGTCTTTCTCCTATCTAAGAAATGATTCGATTCCCTCACACTGAGAATGGCCTACATCCCATATGGAATGATCCTCCTCATACCCAGAATGGTCTCTCCAACCCCTCACTCCTGTGACAACTGGTTCCTCTCGAACCAGAATAGTCTACTAAATACAAGAAATGATTCCCACATGCTCCCAGGGACTGAATCCTGTATCAGGAATGGTTATCCCACCAAGAAAGGTCTGGCTCCCTCAACCAGATGAGGAAATACTTCCCTGCACTCCACATGGTCTGCCCTCCCACCACCGCACACGGACCCTCTAGCTAATGAATTTTTCCTTGCTCTACCCACACTCACAATGAGCTCTCTCTGCTATAAGGAAGGACCCGGCACTCTCAGAACGTTCTTTCTCCACCATATAACGATGAGCCCTCCCACCCGAATGTACAATGAACTCTACCTCCATTAGGAGGGAGCCCCCAGAACGGTCTCCTCCGCACATAATGAAAGACACCCCCATCCTCAAAATGGACCCTCTCTAGTCACATAAAGAAGGACTCGCCCCACCCTAACTCACAATAGTCTCTGTCCCTTTATAAGGAAGGAACCACCACCCTCAGAATAGTCTCCCCCTTCTTCAGTGAGGAACTCCCACACCCGCAGAATGGTCTCTTCCACACGGAAGGACTCCACATATTCAGAATGGTTTCGGTGGCCTTAGCCTTCCCAAAAAGAATTACCCACCACACTCACAATGGTCTCTACTCTCCATATGCGGAAGGATCCCACAATCACTCTCAGAATGTTCTCTTCCCCGCCCCCAACACACTGACAATGTGCACACACACACACACACACACGTCGGTCCACACGGGATGCTCCCTCTCACTTTAGTGAGGAACATTCCCGACTCCCAGCGATCCCGACCTCCGCCTCCCATGCGACTGCTCGGGCAGACTGTCTCACCCGCACTGGCGGTCCCCGGCTCCAATGCACCCGCGGAAACCGCCCCTGGCCCGGGCGCCGCGGTGGAACCACCAGCCCCAACCGCTGCCATGTTGGCATCTGCCCGGCCCGTCCCCTCGGCAACAGAAAAACCACTTCCGCGTTCGTCACTTCCGCTGCCGGGCCACCTGAGTGAAGGTGGAGCGAGAGCCGGGATCGTCAGGGTGGTGGCTTTTCTCCTCCGCTCCTAAAAGCTCAATGTATGAATAGCCCCGGGATTTCCAAATTCCGTCGGATCGGGAGGCCGGGGACACGGCCCGATCGGCCTACCCACCATCCCTACAGAGCTTCATCGGCCCATTCCTGTCACTAGACCCGCCTTATCCTGCCGTTCGTCCGCTTCACTGATCGCGCTTTCCAGATCATCCCCCGAT	A	C48909814T	SLC35A2	NM_001282648.2(SLC35A2):c.-81_202+1del	noncoding	Pathogenic
X	49074847	CCT	C	C49074852G	WDR45	NM_001029896.2(WDR45):c.1037_1038del:p.Glu346fs	coding	Pathogenic
X	49074856	T	TG	C49074858G	WDR45	NM_001029896.2(WDR45):c.1029dup:p.Asn344fs	coding	Pathogenic
X	49074920	A	AG	T49074928G	WDR45	NM_001029896.2(WDR45):c.974-15dup	noncoding	Benign
X	49075170	AC	A	C49075172G	WDR45	NM_001029896.2(WDR45):c.938del:p.Gly313fs	coding	Pathogenic
X	49075200	AG	A	G49075202C	WDR45	NM_001029896.2(WDR45):c.908del:p.Pro303fs	coding	Pathogenic
X	49075217	C	CA	C49075218A	WDR45	NM_001029896.2(WDR45):c.891_892insT:p.Ala298fs	coding	Pathogenic
X	49075228	TG	T	G49075229A	WDR45	NM_001029896.2(WDR45):c.880del:p.Gln294fs	coding	Pathogenic
X	49075351	AG	A	G49075356T	WDR45	NM_001029896.2(WDR45):c.827+12del	noncoding	Benign/Likely_benign
X	49075392	TGA	T	A49075396C	WDR45	NM_001029896.2(WDR45):c.797_798del:p.Leu266fs	coding	Pathogenic
X	49075400	A	AAGAT	T49075406G	WDR45	NM_001029896.2(WDR45):c.787_790dup:p.Phe264fs	coding	Pathogenic
X	49075665	TG	T	G49075667T	WDR45	NM_001029896.2(WDR45):c.604del:p.Gln202fs	coding	Pathogenic
X	49075683	GCTATGTCA	G	A49075686C	WDR45	NM_001029896.2(WDR45):c.579_586del:p.Asp194fs	coding	Pathogenic
X	49075880	TC	T	C49075883A	WDR45	NM_001029896.2(WDR45):c.501del:p.Ser168fs	coding	Pathogenic
X	49075893	TC	T	C49075896G	WDR45	NM_001029896.2(WDR45):c.488del:p.Gly163fs	coding	Pathogenic
X	49076642	CACTT	C	A49076643G	WDR45	NM_001029896.2(WDR45):c.340_341+2del	noncoding	Pathogenic
X	49076647	GTCATGGC	G	T49076648G	WDR45	NM_001029896.2(WDR45):c.332_338del:p.Arg111fs	coding	Pathogenic
X	49077650	CT	C	T49077651C	WDR45	NM_001029896.2(WDR45):c.227del:p.Glu76fs	coding	Pathogenic
X	49077668	AC	A	C49077669T	WDR45	NM_001029896.2(WDR45):c.209del:p.Ser70fs	coding	Pathogenic
X	49077835	AC	A	C49077838A	WDR45	NM_001029896.2(WDR45):c.130+1del	noncoding	Pathogenic
X	49077887	GTC	G	T49077890C	WDR45	NM_001029896.2(WDR45):c.78_79del:p.Glu26fs	coding	Pathogenic
X	49100728	C	CTTAGGGCTTT	C49100741A	WDR45	NM_007075.4(WDR45):c.-367-184_-367-175dup	noncoding	Benign
X	49194314	G	GT	G49194316T	SYP	NM_003179.3(SYP):c.274dup:p.Thr92fs	coding	Pathogenic
X	49197764	TG	AC	T49197764A	SYP	NM_003179.3(SYP):c.177_178delinsGT:p.Asn59_Lys60delinsLysTer	coding	Pathogenic
X	49207048	TG	T	G49207050T	CACNA1F	NM_001256789.3(CACNA1F):c.5187del:p.Gln1732fs	coding	Pathogenic
X	49208632	GAC	G	C49208636G	CACNA1F	NM_001256789.3(CACNA1F):c.5004_5005del:p.Leu1670fs	coding	Pathogenic/Likely_pathogenic
X	49209649	TA	T	A49209650G	CACNA1F	NM_001256789.3(CACNA1F):c.4800del:p.Ser1601fs	coding	Pathogenic
X	49210340	AG	A	G49210341A	CACNA1F	NM_001256789.3(CACNA1F):c.4548del:p.Phe1517fs	coding	Pathogenic
X	49211319	CA	C	A49211320C	CACNA1F	NM_001256789.3(CACNA1F):c.4260+2del	noncoding	Pathogenic
X	49212324	AG	A	G49212330C	CACNA1F	NM_001256789.3(CACNA1F):c.3943-17del	noncoding	Benign
X	49213977	GGGCGCCGGAGGGGGGCAGGGCTTCGCTTGGATCACACGATGGGCCTGCACCTGAGTCCCTCTCACTCCCTAGACTCACACTCCCTGGCTGCTGCCCGCATCGCCAACCCCAGAGCTCTGCAATGAGCTCCACTCCCAAGGAATTCATCCACTGGTGGGTGGGGCTAGAGAAGGGGGGCCACCTTGGGCTTGAAGGCGATGATTTTGAGCACCATCTCAATAGTGAAGAGGCCAGTGAAGACCATGTTGAGGATGTCCATGGCATAGTTGAAGGGAGCAGTCTGCTCATAGTGCTGCAGGAGAAAATCAGGTTGAGATGGAGCCTGAGGCAGAGATGCCGCCACACCCAACCAAATATTCCCTGGCCTGGGCTGAGACGAGTCTGGGGACTTGATTGCACTGTGTATTGGTCAAACCTCTTGCACT	G	G49213979T	CACNA1F	NM_001256789.3(CACNA1F):c.3598-133_3709-76del	noncoding	Pathogenic
X	49214860	C	CT	C49214875T	CACNA1F	NM_001256789.3(CACNA1F):c.3597+212dup	noncoding	Benign
X	49215244	GC	CA	G49215244C	CACNA1F	NM_001256789.3(CACNA1F):c.3439-1_3439delinsTG	coding	Pathogenic
X	49216392	CT	C	T49216394C	CACNA1F	NM_001256789.3(CACNA1F):c.3225del:p.Gly1076fs	coding	Pathogenic
X	49217600	C	CG	C49217607G	CACNA1F	NM_001256789.3(CACNA1F):c.3089+149dup	noncoding	Benign
X	49219377	T	TG	A49219379G	CACNA1F	NM_001256789.3(CACNA1F):c.2616dup:p.Ser873fs	coding	Pathogenic
X	49219672	AG	A	G49219675A	CACNA1F	NM_001256789.3(CACNA1F):c.2504del:p.Pro835fs	coding	Pathogenic
X	49219808	C	CA	T49219818A	CACNA1F	NM_001256789.3(CACNA1F):c.2387-27dup	noncoding	Benign
X	49224782	AG	A	G49224784A	CACNA1F	NM_001256789.3(CACNA1F):c.1855del:p.Leu619fs	coding	Pathogenic
X	49224914	GA	G	A49224915G	CACNA1F	NM_001256789.3(CACNA1F):c.1723del:p.Ser575fs	coding	Pathogenic
X	49224956	AACAG	A	C49224962G	CACNA1F	NM_001256789.3(CACNA1F):c.1678_1681del:p.Leu560fs	coding	Pathogenic
X	49226463	GTC	G	C49226467G	CACNA1F	NM_001256789.3(CACNA1F):c.1407_1408del:p.Glu469fs	coding	Pathogenic
X	49228310	CGAA	C	A49228318T	CACNA1F	NM_001256789.3(CACNA1F):c.946TTC[2]:p.Phe318del	coding	Pathogenic/Likely_pathogenic
X	49228441	TC	T	C49228443A	CACNA1F	NM_001256789.3(CACNA1F):c.823del:p.Glu275fs	coding	Pathogenic
X	49230546	T	TC	G49230552C	CACNA1F	NM_001256789.3(CACNA1F):c.584dup:p.Pro197fs	coding	Pathogenic
X	49251322	TTGATCTTGAGGTCAGGGG	CA	T49251322C	FOXP3	NM_014009.4(FOXP3):c.1290_*12delinsTG:p.Pro431fs	noncoding	Pathogenic
X	49251395	TC	T	C49251397A	FOXP3	NM_014009.4(FOXP3):c.1234del:p.Glu412fs	coding	Pathogenic
X	49255494	CCTT	C	T49255497C	FOXP3	NM_014009.4(FOXP3):c.748_750del:p.Lys250del	coding	Pathogenic/Likely_pathogenic
X	49257567	TG	T	G49257573C	FOXP3	NM_014009.4(FOXP3):c.316-3del	noncoding	Benign
X	49257751	TA	T	A49257752G	FOXP3	NM_014009.4(FOXP3):c.227del:p.Leu76fs	coding	Pathogenic
X	49258676	GACACACAC	G	A49258701C	FOXP3	NM_014009.4(FOXP3):c.-22-181GT[12]	noncoding	Benign
X	49258676	GAC	G	A49258707C	FOXP3	NM_014009.4(FOXP3):c.-22-181GT[15]	noncoding	Benign
X	50072286	A	AT	A50072289T	CLCN5	NM_001127898.4(CLCN5):c.316-201dup	noncoding	Benign
X	50086403	T	TC	A50086406C	CLCN5	NM_001127898.4(CLCN5):c.1092dup:p.Ile365fs	coding	Pathogenic
X	50086696	CTG	C	T50086699G	CLCN5	NM_001127898.4(CLCN5):c.1386_1387del:p.Cys462fs	coding	Pathogenic
X	50089099	A	ACT	A50089105T	CLCN5	NM_001127898.4(CLCN5):c.1744+216CT[3]	noncoding	Benign
X	50090822	AT	A	T50090823G	CLCN5	NM_001127898.4(CLCN5):c.2297del:p.Met766fs	coding	Pathogenic
X	50607726	T	TC	T50607728C	SHROOM4	NM_020717.5(SHROOM4):c.3415dup:p.Glu1139fs	coding	Benign/Likely_benign
X	50607748	C	CCTCCTGTTGCTTCTG	G50607751C	SHROOM4	NM_020717.5(SHROOM4):c.3393_3394insCAGAAGCAACAGGAG:p.Gln1131_Glu1132insGlnLysGlnGlnGlu	coding	Benign
X	50910734	GTCCCTTGGGCTTGTGTTGGGGCCTGTTGTTGAACACTAAGCCTTTCAAGATGGTCCTCCTCAGTATTCTTAGAATTCTTTTTCTTTGTGAACTCGTGCTTTTCATGGAACACAGGGCCCAAATGGCAGAAGGAGGGCAGTCCTCTATTGCCCTTCTGGCTGAGGCCCCTACTTTGCCCCTGATTGAGGAGCTGCTAGAAGAATCCCCTGGCGAACAGCCAAGGAAGCCCCGGCTCCTAGGGCATTCACTGCGGTACATGCTGGAGTTGTACCGGCGTTCAGCTGACTCGCATGGGCACCCTAGAGAGAACCGCACCATTGGGGCCACCATGGTGAGGCTGGTGAAGCCCTTGACCAATGTGGCAAGGCCTCACAGAGGTGAGTTGTTATGCCCCCATACTGCCCTGGAAGGGAGAGAAGTGGAGAGGAGTGTAGAGAAAAGGGAATTGGTGGGTTTACTGTCAGGCTTTGTTGCCTTGTGGGCAGGTTGTTTCTTTAGGCTTGGTTTTCAAAGGATGGCAAGCTTTGGAGAAGCCAGCGCCAAGCCTACTTCCCTTTAGGGCATCAACTTAAGAACAGATTGCCTTGGTGCCTACTGAGAAATCTTTCCCAGGCCCCAGGACAACTGAGTGATGTGCCATCACCTATCTTTCACAGAAACTTTTATTGCTTGTGATAGTTCTGAAAACTGTAGAGACATATCCAGCTATATTCTTGTGGAGGGCTATTTAAGTGGCGTTTTGCTCTTAGAGTACAGCTTGCTGAGTTGGGGAAACTTATAAGGCCTCAGAAAGGACATAAATAAGCTTACATCTGAGGGTCTGTATACCTGGCTCTGTGAACATGTGCTACTGTATTTCTTAATGAAAGCTACTATCTTAACTGTCTTGATGCAATTAGCCTAATTTTAAAACTAAGGCACGGAGAGGTTAAGTAACTTGCAAATGGTACACAGATAGTGGGTCGCAGAGATGGGATTGCAGCTGAAGTCTGTCTGATTCTAAAGTCTGTCGGTAACTTCTTAAGTCTTTAAATGCAGTATTCCAATATCCTTGTACCCCCAATAGTTTTTCTACTTGGGCCATATTGCTACTTTGGGATTCTGGGACTAAGTGTATTTTGGAACTTTTTTTTGTCCCCATCATGCTTGATTTTGCTTTTAACATTTGCATCAGACATTGTTGCAGGACAACAGTGGGCTATTGAAGTGTAGGACTCTCTAGAGAATGCAGACAGTCATCAACTTCAAGGAATTCTTGGGAACCTAGTGAGATCAATCTGTAGCCTTCACTAGTCTGAGATGAAAAGGGACAGGACTTAATCCCCTCCCCAAGCAAAACAATAAATATTCTCGTACCTAACCCTTACTGTGAGATTACTGTGTGCCAGGCATTGCACAAAATGTTTTATAAACATTATCTTAATCCTCACAACTACCAGATTAGGTAGTATTAACATGCCTACTTGATAGGTGAAGAAACTGAGGATCAGAGTCACTTACCCATGTCATACAACCAGTAATTGCTAGAGCCAGGTATCAAACCCAGGCTCTCAGGCCCAAAGCCTGTGTGTTAATCATCTTGCTGTTCTGACTCCCCACTGGATTTTAATTGAGTGCCAGGCAGTGTGTTTGGGTTGGGTATATAGAAGCAAATACTTTTCCGACCTCTAGAAGTTCCCAGTATAGTGGAATGGATAGATAATTACATAATAATGTTACAGTATGCCAAGTGCTTTGGAAAGGACAAACAGTAGGGCTCCCAGGACCTATGAGAAGAAATGGCTCATTTCTTGAAGTGAAGAGACTGTTGGAAGGCCTCATGGAGGAGGTAGTACTTGAAACTGACCTTGCAGAAGGAGCAAAGAGGTCATGCATTGAGGCAGATAAGTGCATTCTGATTTAGGAAAGAGAAAATGGTGTGGGTAGAGATTCATTGAACAAATATTAGGTGCCAAATGTTGGCACCTACTGAGTACTAGGCATACAGATGTGATCAAGATAGGTAAAACCCCTACTTTCATGGAACATATGTTCTCGTAGGGGAGACAAATAAGCACACACAGTTAAATTGTGAATTGTGGTAAGTGCTATCAAAGGATGAAGTAGGTTGTTAAGATAGAGAATGGCAATGAAACCTTCCCTTTCCATGGACTTGTCAGGGAATGTATCTTTGAAGAAGTGCCATTTGAGCTCAGGTCTATAAGATAAACTAGGCATGAGAAGAGTAGGGAGAAGCCTGATTTAGGCAGAGGAACAACAGGTGCAAATGCCTAGAGGGTGAAAACAAGTTGGTTCCAATTGAAGAACAGAGGAAAATCAGTATGGCTGGATCCTCATGAGCATTGTGGGAAATGGCAGGGTATGAGGCTAATGAGAAGCAGGGACTTGTAGGCTGTGATAAGGGATCTGGATCCTAAGAGCAGCAGAAAGTTGCAAAAAATCAAGCACTTTGGGAGGCCAATATGGGAAGATCACTTGAGCCCAGGAGACTGAGACCAGCCTGAGCAACACAGGGAGACATGTCTCTACAAAAAATAAAAATACATTAGCTGGGTGTAGTGGTGCACACCTGTGGTCCCAGCTACTCACGAGGCTGAGACCAGAGGATCATTTGAGCCTGGGAGGTTGAGACTAGAGGAACATTTGAGCCTGGGAGGTTGAGATTGCAGTGAGGCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGAGGCCCTGTCTCAAGGAAAAAAAACAACAACCCCACAAATTAAGAAAAAATTAGGCTTGTACAGATGATGTGAGGCTAGAAAGGAGGATGCCTAGAATTAGACATGTATCCTGGTCTCACTGTGGAATATACTGGTATCTAGGGACTGTGGAAAGGATCCAGAGACAGATGACAGGTTCAATCACACAGGATGTGTGATTCAGCCCTTTCCCTGAAAAGCTTTGACCAGACCCTTCCTGGCTCTGATTCTTAGCAACCCCATCCTGCTTCAGGAAACATGTGATGTCAAGGTCTCAAAGAAAAGGGCAGTTCCTCCCCAGACAGCCTGCTAGAGGTTTGGGTTGAGTTCCTTTATAGCCAGGGTGGAGCAGGTTTAAGGGTGGGCCTCTAAGAAAGATTACTGTAAGATGGGAGTGTGGAATAACTTGAGAAAGCAAATACAAGCCTGGCTTGGATTTGTGTGAATAATGTCTAGTGCGCCAAGCCCAAGGGTATATTAAGCATGAGTTGGAATTTGACCTTTTATTTTACTTATTTTTTTGAGATGGAGTTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAACAAAACAGAAAAAGCTGGGCATGTTGGCACATACCTGTAGTCCTTGCTATCCATGGGGGCTGAGGTGAGAGGATCTCTTGAACCTGGGAAGTCAAGGCTGTAGTGAGCCATGATTGTGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGACTCTGGAAAAAAAAATTCTGGAACATCAAGATGTAAAAGAACTTCTGTGTTAAAAATGCCACATCTAATGAAGAATTCCAGGCTTGTGGATTCAGTGGAGAAGAAGGACTAGGTGAATAAATACAAATTAACATGGAATTATTTACTGATAAGATGTCTGAAGATGAGAGGTGGCTTTTTCCTGTGGTGCCAGGCTTTTGTAATCTTTGCTCTTGACCTTCGCCGGGAGGGGGTGCAGAAGTTTGGAGCACCATGGATGTAACCTTTCAATCCTTTGGCCGTTGAGTGTCAGCACTACAGTTTGGATTAAAGCTCTTATTCACAAAGCAGCATCCAGCTTTTAGTAGACTTCTCAGCAAACAAAATATTTATGTGATCAAGACTGTGTTGAAAATAGTATATAGAGGAATAGTGGTAAAATGAATGGGGTAAATGGAGAACAATTTCCAGCAAGGAGTGGTAAAGAGAGAGATTAAGGGCCAAAGGAGGAAAAGATGCTTAAGAAGCAATTCTTGAAGTAGATGGAAGGCAGAAGTGGTAAGATAGCTGTCTGTACTAGAGGATGATAGACAAAATTATTTTGTAGTGCCTTGGTCCTGAGTTTGAAATTATAGCAGGCCATAGCACCCAATACTGAATTGTTGTCCCAAAGCTGCATCTGTATAGTGATATGACATGAGACTCTTTCTTAATCCATGTATGTTTCAACAATTCTAAATGGACACATTTAATGGTCAACTAATAATAATATTGATCTTCTCCCCTACATACAGTATGCACACAAGATAATTCTATATTTGAGTTTTTTCCCCCGAGCCCAGCACTGTAAGTAATCTAACAGTGAGACAGTTTCTCTTAAGAAAAACAGACTTGGGTTCAAATCTTAACTCTACCACATACCAGCTGTGTGTCCTTTGTCATAGCTTCTCTGAGCCTCAATTTCCTTATCTGCAAAATGGGGATAATAACTATCTCATAAGACTATTAAGAATTAAAGAGCTAATACATGTAAAGCATCTAGTGTATTAGTAAGTGCTCAGTAAATGATAGTATCATTATCTTGAGTTAATTTTAGGGCTGATTATAGCTATCAGTCTATATCAAGACAGTTTATGAGGAATATTCATGTTAAGAGGTAAGAAGCTAAACCTCTGCTCTTGTTCCCTCTTACTTCTGCAGGTACCTGGCATATACAGATCCTGGGCTTTCCTCTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCATCTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCAACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCTTGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACACAGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCTGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCATAAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAATCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCCTCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTCCGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGTAAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATTCAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTATAAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAGTATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGACAGCAACAGTACGGCTAGATCAGGTTTCCCAGGA	G	T50910735A	BMP15	NM_005448.2(BMP15):c.-49_*34del:p.Met1fs	noncoding	Pathogenic
X	53192858	GCCACCCCCCTACCCGC	G	T53192868A	KDM5C	NM_004187.5(KDM5C):c.*93_*108del	coding	Benign
X	53192861	A	AC	T53192868C	KDM5C	NM_004187.5(KDM5C):c.*105dup	coding	Benign
X	53195286	C	CT	C53195288T	KDM5C	NM_004187.5(KDM5C):c.3244dup:p.Arg1082fs	coding	Pathogenic
X	53195360	CA	C	A53195361C	KDM5C	NM_004187.5(KDM5C):c.3170del:p.Val1057fs	coding	Pathogenic
X	53197770	CCTTGACATCCCCAATCTGGTGCATGGCGCAAGGCAGGTTGTTCATCTGGTCCAGAAAGGCCCGGAGCTCAGTCAGGGTCATCTGTAGACCAGCCACCCTGTGGGGG	C	T53197773A	KDM5C	NM_004187.5(KDM5C):c.2517_2622del	noncoding	Pathogenic
X	53198575	GCTCA	G	C53198578A	KDM5C	NM_004187.5(KDM5C):c.2427_2430del:p.Glu810fs	coding	Pathogenic
X	53199155	TA	T	A53199156C	KDM5C	NM_004187.5(KDM5C):c.2064del:p.Ile689fs	coding	Pathogenic
X	53201953	AC	A	C53201954A	KDM5C	NM_004187.5(KDM5C):c.1766del:p.Cys589fs	coding	Pathogenic
X	53211535	CAG	C	A53211536G	KDM5C	NM_004187.5(KDM5C):c.1361_1362del:p.Pro454fs	coding	Pathogenic
X	53211847	CAG	C	A53211850T	KDM5C	NM_004187.5(KDM5C):c.1180_1181del:p.Leu394fs	coding	Pathogenic
X	53214797	C	CT	G53214800T	KDM5C	NM_004187.5(KDM5C):c.1013dup:p.Leu339fs	coding	Pathogenic
X	53215950	T	TG	A53215957G	KDM5C	NM_004187.5(KDM5C):c.807dup:p.Thr270fs	coding	Pathogenic
X	53224742	CG	C	G53224745T	KDM5C	NM_004187.5(KDM5C):c.147del:p.Ala50fs	coding	Pathogenic
X	53224877	A	AC	G53224882C	KDM5C	NM_004187.5(KDM5C):c.12dup:p.Ser5fs	coding	Pathogenic
X	53234267	G	GGGGGGGTTGGCTGTGCC	A53234285G	IQSEC2	NM_001111125.3(IQSEC2):c.4402_4418dup:p.Ser1474fs	coding	Pathogenic
X	53234275	T	TG	C53234278G	IQSEC2	NM_001111125.3(IQSEC2):c.4410dup:p.Asn1471fs	coding	Pathogenic
X	53234351	AG	A	G53234355A	IQSEC2	NM_001111125.3(IQSEC2):c.4334del:p.Pro1445fs	coding	Pathogenic
X	53234420	CTG	C	T53234421G	IQSEC2	NM_001111125.3(IQSEC2):c.4264_4265del:p.Gln1422fs	coding	Pathogenic
X	53234471	G	GC	A53234477C	IQSEC2	NM_001111125.3(IQSEC2):c.4214dup:p.Gly1407fs	coding	Pathogenic
X	53234810	T	TG	A53234816G	IQSEC2	NM_001111125.3(IQSEC2):c.3875dup:p.Pro1293fs	coding	Pathogenic
X	53234894	GAGCTTGGACTGCCCATCAGGCAGCACCCCCAGGCCACCGTGGCTATGGCCATGATGGTGGTGGTGGTGGTGGTGGTGCGTGGAAGAAGCAGATGAAGAGGAGGCAGAGGCCTGGCCTGTTGGCGGTGGTGGCATCTGGAAGGGCCCCTTGCCCCGCTTGCTTCCAAATAGGGAGCCCAGGA	G	C53234897G	IQSEC2	NM_001111125.3(IQSEC2):c.3611_3791del:p.Phe1204fs	coding	Pathogenic
X	53235170	G	GC	T53235172C	IQSEC2	NM_001111125.3(IQSEC2):c.3515dup:p.Ser1172fs	coding	Pathogenic
X	53238184	TG	T	G53238186A	IQSEC2	NM_001111125.3(IQSEC2):c.3237del:p.Ile1080fs	coding	Pathogenic
X	53243380	A	AT	G53243382T	IQSEC2	NM_001111125.3(IQSEC2):c.2840dup:p.His947fs	coding	Pathogenic
X	53243397	G	GCAGTT	C53243405G	IQSEC2	NM_001111125.3(IQSEC2):c.2819_2823dup:p.Arg942fs	coding	Pathogenic
X	53248085	GCAGCTTCGCG	CACCTGGCAGAAGACCAGGCACCTAGAAAGAGCTTAGTCACAGTCACTGAAGGGTCCAGCACAC	G53248085C	IQSEC2	NM_001111125.3(IQSEC2):c.2582+19_2582+29delinsGTGTGCTGGACCCTTCAGTGACTGTGACTAAGCTCTTTCTAGGTGCCTGGTCTTCTGCCAGGTG	noncoding	Benign
X	53248842	AGC	A	G53248843C	IQSEC2	NM_001111125.3(IQSEC2):c.2336_2337del:p.Gly779fs	coding	Pathogenic
X	53250283	TG	T	G53250284A	IQSEC2	NM_001111125.3(IQSEC2):c.2292del:p.Phe764fs	coding	Pathogenic
X	53250497	AC	A	C53250499A	IQSEC2	NM_001111125.3(IQSEC2):c.2078del:p.Gly693fs	coding	Pathogenic
X	53250650	CG	C	G53250654C	IQSEC2	NM_001111125.3(IQSEC2):c.1925del:p.Pro642fs	coding	Pathogenic
X	53250962	T	TG	T53250968G	IQSEC2	NM_001111125.3(IQSEC2):c.1613dup:p.Pro539fs	coding	Pathogenic
X	53255189	CA	C	A53255198G	IQSEC2	NM_001111125.3(IQSEC2):c.1000-259del	noncoding	Benign
X	53255970	AG	A	G53255976C	IQSEC2	NM_001111125.3(IQSEC2):c.828del:p.Ser277fs	coding	Pathogenic
X	53279909	AGGAG	A	G53279931A	IQSEC2	NM_001111125.3(IQSEC2):c.737+11962CTCC[5]	noncoding	Benign
X	53291941	G	GA	C53291950A	IQSEC2	NM_001111125.3(IQSEC2):c.708-18dup	noncoding	Benign
X	53320416	CT	C	T53320419C	IQSEC2	NM_001111125.3(IQSEC2):c.705delA:p.Lys236fs	noncoding	Pathogenic
X	53320496	AT	A	T53320497G	IQSEC2	NM_001111125.3(IQSEC2):c.627del:p.Ser210fs	coding	Pathogenic
X	53382386	AG	A	G53382390A	SMC1A	NM_006306.4(SMC1A):c.3286-4del	noncoding	Benign
X	53383103	AG	A	G53383105T	SMC1A	NM_006306.4(SMC1A):c.3123del:p.Ser1042fs	coding	Pathogenic
X	53394653	CCT	C	C53394656T	SMC1A	NM_006306.4(SMC1A):c.2973+123_2973+124del	noncoding	Benign
X	53394731	T	TC	A53394735C	SMC1A	NM_006306.4(SMC1A):c.2973+44dup	noncoding	Benign
X	53394760	CCT	C	C53394761G	SMC1A	NM_006306.4(SMC1A):c.2973+16_2973+17del	noncoding	Benign
X	53396243	T	TCATC	G53396251C	SMC1A	NM_006306.4(SMC1A):c.2842_2845dup:p.Asp949delinsGlyTer	coding	Pathogenic
X	53405068	ACTTGAGCC	A	C53405069G	SMC1A	NM_006306.4(SMC1A):c.2132_2139del:p.Arg711fs	coding	Pathogenic
X	53405085	AG	A	G53405086T	SMC1A	NM_006306.4(SMC1A):c.2122del:p.Leu708fs	coding	Pathogenic
X	53405131	GT	G	T53405135G	SMC1A	NM_006306.4(SMC1A):c.2076del:p.Lys692fs	coding	Pathogenic
X	53405138	CT	C	T53405140C	SMC1A	NM_006306.4(SMC1A):c.2069del:p.Lys690fs	coding	Pathogenic
X	53405262	AGC	A	G53405265T	SMC1A	NM_006306.4(SMC1A):c.2039_2040del:p.Arg680fs	coding	Pathogenic
X	53405589	GAT	G	A53405592G	SMC1A	NM_006306.4(SMC1A):c.1813_1814del:p.Ile605fs	coding	Pathogenic
X	53405809	C	CA	C53405811A	SMC1A	NM_006306.4(SMC1A):c.1692dup:p.Gly565fs	coding	Pathogenic
X	53412992	CT	C	T53412994C	SMC1A	NM_006306.4(SMC1A):c.761del:p.Lys254fs	coding	Pathogenic
X	53413019	CTT	C	T53413021G	SMC1A	NM_006306.4(SMC1A):c.733_734del:p.Lys245fs	coding	Pathogenic
X	53413298	CTG	C	G53413304C	SMC1A	NM_006306.4(SMC1A):c.547_548del:p.Gln183fs	coding	Pathogenic
X	53413365	GA	G	A53413367C	SMC1A	NM_006306.4(SMC1A):c.481del:p.Ser161fs	coding	Pathogenic
X	53414866	AC	A	C53414868T	SMC1A	NM_006306.4(SMC1A):c.302del:p.Gly101fs	coding	Pathogenic
X	53415091	TCCCGCAGGGTCTTTA	T	G53415100T	SMC1A	NM_006306.4(SMC1A):c.173_187del:p.Val58_Arg62del	coding	Pathogenic
X	53415121	G	GT	C53415128T	SMC1A	NM_006306.4(SMC1A):c.157dup:p.Thr53fs	coding	Pathogenic
X	53421916	T	TG	A53421921G	SMC1A	NM_006306.4(SMC1A):c.109+575dup	coding	Pathogenic
X	53422386	A	AG	T53422390G	SMC1A	NM_006306.4(SMC1A):c.109+103dup	noncoding	Benign
X	53422590	AG	A	G53422592A	SMC1A	NM_006306.4(SMC1A):c.10del:p.Phe3_Leu4insTer	coding	Pathogenic
X	53535922	G	GT	A53535944T	HUWE1	NM_031407.7(HUWE1):c.12531+204dup	noncoding	Benign
X	53535922	G	GTT	A53535944T	HUWE1	NM_031407.7(HUWE1):c.12531+204_12531+205dup	noncoding	Benign
X	53538697	TAC	T	A53538724T	HUWE1	NM_031407.7(HUWE1):c.11878+110GT[13]	noncoding	Benign
X	53538722	A	ACT	A53538724T	HUWE1	NM_031407.7(HUWE1):c.11878+112_11878+113insGA	noncoding	Benign
X	53538722	A	ACTCT	A53538724T	HUWE1	NM_031407.7(HUWE1):c.11878+112_11878+113insGAGA	noncoding	Benign
X	53538724	A	ACTCT	A53538754T	HUWE1	NM_031407.7(HUWE1):c.11878+83AG[16]	noncoding	Benign
X	53538724	A	ACTCTCT	A53538754T	HUWE1	NM_031407.7(HUWE1):c.11878+83AG[17]	noncoding	Benign
X	53539320	T	TA	G53539345A	HUWE1	NM_031407.7(HUWE1):c.11633-264dup	noncoding	Benign
X	53560032	CAT	C	A53560033G	HUWE1	NM_031407.7(HUWE1):c.7736+154_7736+155del	noncoding	Benign
X	53602574	TC	T	C53602576G	HUWE1	NM_031407.7(HUWE1):c.2960del:p.Gly987fs	coding	Pathogenic
X	53616080	A	AT	G53616091T	HUWE1	NM_031407.7(HUWE1):c.1958-255dup	noncoding	Benign
X	53628464	TAA	T	A53628482G	HUWE1	NM_031407.7(HUWE1):c.1242+27_1242+28del	noncoding	Benign
X	53628464	TA	T	A53628483G	HUWE1	NM_031407.7(HUWE1):c.1242+28del	noncoding	Benign
X	53628464	T	TA	G53628484A	HUWE1	NM_031407.7(HUWE1):c.1242+10dup	noncoding	Benign
X	53645747	AT	A	T53645748A	HUWE1	NM_031407.7(HUWE1):c.352-285del	noncoding	Benign
X	53645749	AT	A	T53645750A	HUWE1	NM_031407.7(HUWE1):c.352-287del	noncoding	Benign
X	53648523	T	TA	C53648530A	HUWE1	NM_031407.7(HUWE1):c.46-219dup	noncoding	Benign
X	53648543	A	AAC	A53648545C	HUWE1	NM_031407.7(HUWE1):c.46-234_46-233insTG	noncoding	Benign
X	53648544	A	AC	A53648545C	HUWE1	NM_031407.7(HUWE1):c.46-235_46-234insG	noncoding	Benign
X	54011113	AGGGAAGACCTGT	A	G54011119T	PHF8	NM_015107.3(PHF8):c.943_946+8del	noncoding	Pathogenic
X	54449224	CT	C	T54449228C	FGD1	NM_004463.3(FGD1):c.2192del:p.Lys731fs	coding	Pathogenic
X	54456638	GT	G	T54456650G	FGD1	NM_004463.3(FGD1):c.1637-72del	noncoding	Benign
X	54465770	CA	C	A54465773G	FGD1	NM_004463.3(FGD1):c.1422del:p.Phe474fs	coding	Pathogenic
X	54465800	T	TG	A54465802G	FGD1	NM_004463.3(FGD1):c.1392dup:p.Lys465fs	coding	Pathogenic
X	54470028	CT	C	T54470029G	FGD1	NM_004463.3(FGD1):c.1088del:p.Gln363fs	coding	Pathogenic
X	54470406	AC	A	C54470408T	FGD1	NM_004463.3(FGD1):c.710del:p.Gly237fs	coding	Pathogenic
X	54471007	CA	C	A54471026G	FGD1	NM_004463.3(FGD1):c.482-248del	noncoding	Benign
X	54471007	C	CA	G54471027A	FGD1	NM_004463.3(FGD1):c.482-266dup	noncoding	Benign
X	54471375	CG	C	G54471380A	FGD1	NM_004463.3(FGD1):c.419del:p.Pro140fs	coding	Pathogenic
X	54471427	AG	A	G54471429C	FGD1	NM_004463.3(FGD1):c.367del:p.Ser122_Leu123insTer	coding	Pathogenic
X	54495147	CCAGGTGGT	C	C54495148A	FGD1	NM_004463.3(FGD1):c.278_285del:p.Ser92_Tyr93insTer	coding	Pathogenic
X	54495406	G	GC	G54495413C	FGD1	NM_004463.3(FGD1):c.26dup:p.Ala10fs	coding	Pathogenic/Likely_pathogenic
X	54812243	ACTGGGAACGTAAG	A	C54812251A	MAGED2	NM_177433.3(MAGED2):c.1085_1085+12del	coding	Pathogenic
X	54812661	GACTCAC	G	C54812663T	MAGED2	NM_177433.3(MAGED2):c.1086-282_1086-277del	noncoding	Benign
X	54815135	G	GA	G54815136A	MAGED2	NM_177433.3(MAGED2):c.1387-113_1387-112insA	noncoding	Benign
X	55014483	AC	A	C55014484T	ALAS2	NM_000032.5(ALAS2):c.1437+263del	noncoding	Benign
X	55015957	CTCTGTG	C	C55015959G	ALAS2	NM_000032.5(ALAS2):c.1004-221_1004-216del	noncoding	Benign
X	55015959	C	CTG	A55016011G	ALAS2	NM_000032.5(ALAS2):c.1004-267CA[26]	noncoding	Benign
X	55015959	CTG	C	G55016009A	ALAS2	NM_000032.5(ALAS2):c.1004-267CA[24]	noncoding	Benign
X	55015959	CTGTG	C	G55016007A	ALAS2	NM_000032.5(ALAS2):c.1004-267CA[23]	noncoding	Benign
X	55015959	CTGTGTG	C	G55016005A	ALAS2	NM_000032.5(ALAS2):c.1004-267CA[22]	noncoding	Benign
X	55015959	CTGTGTGTG	C	G55016003A	ALAS2	NM_000032.5(ALAS2):c.1004-267CA[21]	noncoding	Benign
X	55015959	CTGTGTGTGTGTG	C	G55015999A	ALAS2	NM_000032.5(ALAS2):c.1004-267CA[19]	noncoding	Benign
X	63637846	C	CTG	C63637882G	ARHGEF9	NM_001353921.2(ARHGEF9):c.*148CA[18]	noncoding	Benign
X	63637846	CTG	C	G63637880C	ARHGEF9	NM_001353921.2(ARHGEF9):c.*148CA[16]	noncoding	Benign
X	63637846	CTGTG	C	G63637878C	ARHGEF9	NM_001353921.2(ARHGEF9):c.*148CA[15]	noncoding	Benign
X	63643717	T	TAA	G63643732A	ARHGEF9	NM_001353921.2(ARHGEF9):c.1390+249_1390+250dup	noncoding	Benign
X	63644167	C	CAA	T63644182A	ARHGEF9	NM_001353921.2(ARHGEF9):c.1322-133_1322-132dup	noncoding	Benign
X	63644167	C	CA	T63644182A	ARHGEF9	NM_001353921.2(ARHGEF9):c.1322-133dup	noncoding	Benign
X	63665979	G	GTA	G63665982T	ARHGEF9	NM_001353921.2(ARHGEF9):c.982_983dup:p.Gly330fs	coding	Pathogenic
X	63674177	CAA	C	A63674180G	ARHGEF9	NM_001353921.2(ARHGEF9):c.816-12_816-11del	noncoding	Benign/Likely_benign
X	63754408	A	AT	C63754421T	ARHGEF9	NM_001353921.2(ARHGEF9):c.31-29709dup	coding	Benign
X	64190864	G	GC	T64190865C	AMER1	NM_152424.4(AMER1):c.2422_2423insG:p.Thr808fs	coding	Pathogenic
X	64191797	CG	C	G64191801T	AMER1	NM_152424.4(AMER1):c.1489del:p.Arg497fs	coding	Pathogenic/Likely_pathogenic
X	64192124	ACCTCTTCTT	A	T64192138C	AMER1	NM_152424.4(AMER1):c.1145AAGAAGAGG[1]:p.Glu385_Glu387del	coding	Benign
X	64192418	CCT	C	C64192419G	AMER1	NM_152424.4(AMER1):c.867_868del:p.Lys292fs	coding	Pathogenic
X	64192646	AC	A	C64192648T	AMER1	NM_152424.4(AMER1):c.640del:p.Val214fs	coding	Pathogenic
X	64192914	AG	A	G64192917T	AMER1	NM_152424.4(AMER1):c.372del:p.Cys125fs	coding	Pathogenic
X	64193106	CAA	C	A64193108G	AMER1	NM_152424.4(AMER1):c.179_180del:p.Phe60fs	coding	Pathogenic
X	64919152	TG	T	G64919158C	ZC4H2	NM_018684.4(ZC4H2):c.450del:p.Ile151fs	coding	Pathogenic
X	64920202	ACT	A	C64920205A	ZC4H2	NM_018684.4(ZC4H2):c.275_276del:p.Glu92fs	coding	Pathogenic
X	64922247	C	CA	G64922260A	ZC4H2	NM_018684.4(ZC4H2):c.54-271dup	noncoding	Benign
X	65514534	GCA	G	A65514566G	LAS1L	NM_031206.7(LAS1L):c.2078+257TG[15]	noncoding	Benign
X	65514534	G	GCA	G65514568A	LAS1L	NM_031206.7(LAS1L):c.2078+257TG[17]	noncoding	Benign
X	65517977	TA	T	A65517978G	LAS1L	NM_031206.7(LAS1L):c.1927+9del	noncoding	Benign
X	65528492	AG	A	G65528500C	LAS1L	NM_031206.7(LAS1L):c.847-124del	noncoding	Benign
X	65534401	GGGCCTTATAGAAACTC	G	G65534403A	LAS1L	NM_031206.7(LAS1L):c.236+63_236+78del	noncoding	Benign
X	65736890	AG	A	G65736891C	MSN	NM_002444.3(MSN):c.1056del:p.Lys352fs	coding	Pathogenic
X	67545197	G	GA	C67545199A	AR	NM_000044.6(AR):c.52dup:p.Thr18fs	coding	Pathogenic
X	67545316	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	T	G67545356A	AR	NM_000044.6(AR):c.171GCA[13]:p.Gln71_Gln80del	coding	Benign
X	67545316	TGCAGCAGCAGCAGCAGCAGCA	T	G67545365A	AR	NM_000044.6(AR):c.171GCA[16]:p.Gln74_Gln80del	coding	Benign/Likely_benign
X	67545316	TGCAGCAGCAGCAGCAGCA	T	G67545368A	AR	NM_000044.6(AR):c.171GCA[17]:p.Gln75_Gln80del	coding	Benign/Likely_benign
X	67545400	GGCA	G	C67545417G	AR	NM_000044.6(AR):c.256CAG[5]:p.Gln91del	coding	Pathogenic
X	67545474	CTGGAT	C	T67545475G	AR	NM_000044.6(AR):c.329_333del:p.Leu110fs	coding	Pathogenic
X	67545817	ATTAC	A	C67545821G	AR	NM_000044.6(AR):c.675_678del:p.Asn224_Tyr225insTer	coding	Pathogenic
X	67545974	A	ACCCGC	T67545980C	AR	NM_000044.6(AR):c.829_833dup:p.Val279fs	coding	Pathogenic
X	67546514	TGGCGGCGGCGGCGGCGGCGGCGGCGGC	T	G67546540A	AR	NM_000044.6(AR):c.1370GCG[8]:p.Gly465_Gly473del	coding	Benign
X	67546514	TGGCGGCGGCGGCGGCGGCGGCGGC	T	G67546543A	AR	NM_000044.6(AR):c.1370GCG[9]:p.Gly466_Gly473del	coding	Benign
X	67546514	TGGCGGCGGCGGCGGCGGCGGC	T	G67546546A	AR	NM_000044.6(AR):c.1370GCG[10]:p.Gly467_Gly473del	coding	Benign
X	67546514	TGGCGGCGGCGGCGGCGGC	T	G67546549A	AR	NM_000044.6(AR):c.1370GCG[11]:p.Gly468_Gly473del	coding	Benign
X	67546514	TGGCGGCGGCGGC	T	G67546555A	AR	NM_000044.6(AR):c.1370GCG[13]:p.Gly470_Gly473del	coding	Benign/Likely_benign
X	67546514	TGGC	T	G67546564A	AR	NM_000044.6(AR):c.1370GCG[16]:p.Gly473del	coding	Benign/Likely_benign
X	67546514	T	TGGTGGCGGC	C67546517T	AR	NM_000044.6(AR):c.1370_1371insTGGCGGCGG:p.Gly471_Gly473dup	coding	Benign
X	67546514	T	TGGTGGCGGCGGC	C67546517T	AR	NM_000044.6(AR):c.1370_1371insTGGCGGCGGCGG:p.Gly470_Gly473dup	coding	Benign
X	67643343	TG	T	G67643346T	AR	NM_000044.6(AR):c.1707del:p.Cys570fs	coding	Pathogenic
X	67643375	GC	G	C67643376T	AR	NM_000044.6(AR):c.1737del:p.Cys580fs	coding	Pathogenic
X	67721832	G	GGTA	C67721836G	AR	NM_000044.6(AR):c.2319_2321dup:p.Tyr774Ter	noncoding	Pathogenic
X	67721915	A	AC	A67721922C	AR	NM_000044.6(AR):c.2407dup:p.Gln803fs	coding	Pathogenic
X	67723520	A	AACACACACAC	G67723541A	AR	NM_000044.6(AR):c.2608-165AC[15]	noncoding	Benign
X	67723520	A	AACACACAC	G67723541A	AR	NM_000044.6(AR):c.2608-165AC[14]	noncoding	Benign
X	67723666	CCT	C	C67723669T	AR	NM_000044.6(AR):c.2608-17_2608-16del	noncoding	Benign
X	68052289	C	CAA	G68052306A	OPHN1	NM_002547.3(OPHN1):c.2375+235_2375+236dup	noncoding	Benign
X	68052289	C	CA	G68052306A	OPHN1	NM_002547.3(OPHN1):c.2375+235dup	noncoding	Benign
X	68053948	A	AT	G68053964T	OPHN1	NM_002547.3(OPHN1):c.2159-153dup	noncoding	Benign
X	68053948	A	ATT	G68053964T	OPHN1	NM_002547.3(OPHN1):c.2159-153_2159-152dup	noncoding	Benign
X	68053948	A	ATTT	G68053964T	OPHN1	NM_002547.3(OPHN1):c.2159-153_2159-151dup	noncoding	Benign
X	68073274	C	CT	C68073278T	OPHN1	NM_002547.3(OPHN1):c.1711dup:p.Ser571fs	coding	Pathogenic
X	68112061	GCACA	G	C68112086G	OPHN1	NM_002547.3(OPHN1):c.1421-130TG[12]	noncoding	Benign
X	68112061	G	GCACACACACACACA	G68112090C	OPHN1	NM_002547.3(OPHN1):c.1421-130TG[21]	noncoding	Benign
X	68112061	G	GCACACACA	G68112090C	OPHN1	NM_002547.3(OPHN1):c.1421-130TG[18]	noncoding	Benign
X	68112061	G	GCACACA	G68112090C	OPHN1	NM_002547.3(OPHN1):c.1421-130TG[17]	noncoding	Benign
X	68112061	G	GCACA	G68112090C	OPHN1	NM_002547.3(OPHN1):c.1421-130TG[16]	noncoding	Benign
X	68112061	G	GCA	G68112090C	OPHN1	NM_002547.3(OPHN1):c.1421-130TG[15]	noncoding	Benign
X	68112088	CAG	C	G68112096T	OPHN1	NM_002547.3(OPHN1):c.1421-137CT[3]	noncoding	Benign
X	68193917	TC	T	C68193919T	OPHN1	NM_002547.3(OPHN1):c.1173del:p.Lys392fs	coding	Pathogenic
X	68209992	CT	C	T68210005G	OPHN1	NM_002547.3(OPHN1):c.832+160del	noncoding	Benign
X	69616519	GA	G	A69616521C	EDA	NM_001399.5(EDA):c.213del:p.Glu71fs	coding	Pathogenic
X	69616522	CGTGGA	C	T69616524C	EDA	NM_001399.5(EDA):c.216_220del:p.Gly73fs	coding	Pathogenic
X	69616551	GGGCACCCCT	G	C69616558T	EDA	NM_001399.5(EDA):c.250_258del:p.Pro84_Thr86del	coding	Benign/Likely_benign
X	69616632	G	GC	G69616635C	EDA	NM_001399.5(EDA):c.326dup:p.Ser110fs	coding	Pathogenic
X	69617006	G	GC	G69617013C	EDA	NM_001399.5(EDA):c.396+308dup	noncoding	Benign
X	69957070	C	CT	G69957072T	EDA	NM_001399.5(EDA):c.441dup:p.Glu148Ter	coding	Pathogenic
X	69957101	T	TAAAAGAAGCAAAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	A69957117G	EDA	NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC:p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer	coding	Pathogenic
X	69957120	GA	G	A69957122G	EDA	NM_001399.5(EDA):c.492del:p.Gly165fs	coding	Pathogenic
X	69957126	GC	G	C69957127A	EDA	NM_001399.5(EDA):c.497del:p.Ala166fs	coding	Pathogenic
X	70027822	C	CA	G70027833A	EDA	NM_001399.5(EDA):c.527-25dup	noncoding	Benign
X	70027898	CCCCCAGGACCTCCAGGA	C	A70027906G	EDA	NM_001399.5(EDA):c.576_592del:p.Pro193fs	coding	Pathogenic
X	70027906	ACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG	A	A70027915G	EDA	NM_001399.5(EDA):c.585_697del:p.Pro196fs	coding	Pathogenic
X	70027917	CCCAGGGACCCCCAGGAATT	C	C70027925T	EDA	NM_001399.5(EDA):c.595_613del:p.Pro199fs	coding	Pathogenic
X	70027935	TTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCC	T	T70027944C	EDA	NM_001399.5(EDA):c.614_699del:p.Ile205fs	coding	Pathogenic
X	70133891	TAT	AA	T70133891A	IGBP1	NM_001551.3(IGBP1):c.-57_-55delinsAA	noncoding	Pathogenic
X	70449699	CTGTG	C	T70449702C	DLG3	NM_021120.4(DLG3):c.546_549del:p.Val183fs	coding	Pathogenic
X	70498683	CTCAT	C	T70498684G	DLG3	NM_021120.4(DLG3):c.1870+114_1870+117del	noncoding	Benign
X	70678837	G	GT	G70678840T	TEX11	NM_031276.3(TEX11):c.1208dup:p.Asn403fs	coding	Pathogenic
X	70740731	CT	C	T70740733A	TEX11	NM_031276.3(TEX11):c.812del:p.Lys271fs	coding	Pathogenic
X	70860927	AC	A	C70860928A	TEX11	NM_031276.3(TEX11):c.253del:p.Val85fs	coding	Pathogenic
X	71107883	CAGACTCTCAGCCAGTCCCTT	C	T71107888A	IL2RG	NM_000206.3(IL2RG):c.943_962del:p.Lys315fs	coding	Pathogenic
X	71108278	GA	G	A71108282G	IL2RG	NM_000206.3(IL2RG):c.922del:p.Ser308fs	coding	Pathogenic
X	71108294	ATT	A	T71108295C	IL2RG	NM_000206.3(IL2RG):c.905_906del:p.Glu302fs	coding	Pathogenic
X	71108633	TAATC	T	A71108638C	IL2RG	NM_000206.3(IL2RG):c.816_819del:p.Ile273fs	coding	Pathogenic
X	71108708	GA	G	A71108712G	IL2RG	NM_000206.3(IL2RG):c.758-14del	noncoding	Benign
X	71109929	CAA	C	A71109944G	IL2RG	NM_000206.3(IL2RG):c.594+225_594+226del	noncoding	Benign
X	71109929	CA	C	A71109945G	IL2RG	NM_000206.3(IL2RG):c.594+226del	noncoding	Benign
X	71109929	C	CAA	G71109946A	IL2RG	NM_000206.3(IL2RG):c.594+211_594+212dup	noncoding	Benign
X	71109929	C	CA	G71109946A	IL2RG	NM_000206.3(IL2RG):c.594+211dup	noncoding	Benign
X	71110200	CCAAA	C	A71110203G	IL2RG	NM_000206.3(IL2RG):c.546_549del:p.Cys182fs	coding	Pathogenic
X	71110573	C	CAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACT	T71110657A	IL2RG	NM_000206.3(IL2RG):c.302_384dup:p.Val129fs	coding	Pathogenic
X	71110598	C	CA	T71110599A	IL2RG	NM_000206.3(IL2RG):c.359_360insT:p.Lys120fs	coding	Pathogenic/Likely_pathogenic
X	71110598	C	CT	G71110606T	IL2RG	NM_000206.3(IL2RG):c.359dup:p.Glu121fs	coding	Pathogenic
X	71110950	GCAATTCATGTA	G	A71110952T	IL2RG	NM_000206.3(IL2RG):c.205_215del:p.Tyr69fs	coding	Pathogenic
X	71111017	AG	A	G71111020A	IL2RG	NM_000206.3(IL2RG):c.148del:p.Leu50fs	coding	Pathogenic
X	71111250	C	CAAGA	G71111264A	IL2RG	NM_000206.3(IL2RG):c.115+163TCTT[4]	noncoding	Benign
X	71111487	AG	A	G71111491C	IL2RG	NM_000206.3(IL2RG):c.52del:p.Leu18fs	coding	Pathogenic
X	71111488	GGGGCAGCTGCAGGAATAAGAGGGAT	G	G71111490T	IL2RG	NM_000206.3(IL2RG):c.27_51del:p.Ser10fs	coding	Pathogenic
X	71121272	T	TACTTTATCTGCTTC	T71121288C	MED12	NM_005120.3(MED12):c.736-53_736-40dup	noncoding	Benign
X	71123573	ATTTG	A	T71123576C	MED12	NM_005120.3(MED12):c.1618-18_1618-15del	noncoding	Benign
X	71128584	G	GT	C71128591T	MED12	NM_005120.3(MED12):c.3355-8dup	noncoding	Benign/Likely_benign
X	71129433	C	CG	T71129439G	MED12	NM_005120.3(MED12):c.3691+9dup	noncoding	Benign
X	71132767	C	CCTCTTCTCTTCTCTT	T71132830C	MED12	NM_005120.3(MED12):c.4416-77CTCTT[15]	noncoding	Benign
X	71134230	CA	C	A71134251C	MED12	NM_005120.3(MED12):c.4618-106del	noncoding	Benign
X	71134230	C	CA	C71134252A	MED12	NM_005120.3(MED12):c.4618-106dup	noncoding	Benign
X	71135131	GTTC	CCAGCA	G71135131C	MED12	NM_005120.3(MED12):c.4903_4906delinsCCAGCA:p.Val1635fs	coding	Pathogenic
X	71137322	CTG	C	G71137326A	MED12	NM_005120.3(MED12):c.5691_5692del:p.Tyr1898fs	coding	Pathogenic
X	71137543	CT	C	T71137547C	MED12	NM_005120.3(MED12):c.5749-11del	noncoding	Benign
X	71141801	C	CA	C71141813A	MED12	NM_005120.3(MED12):c.6409-71dup	noncoding	Benign
X	71223939	TC	T	C71223942T	GJB1	NM_000166.6(GJB1):c.235del:p.Leu79fs	coding	Pathogenic
X	71223956	AG	A	G71223957T	GJB1	NM_000166.6(GJB1):c.250del:p.Val84fs	coding	Pathogenic
X	71223968	AGCTCTCCTCGTGGCCAT	A	T71223971A	GJB1	NM_000166.6(GJB1):c.264_280del:p.Leu89fs	coding	Pathogenic
X	71224021	TGCTAC	T	C71224023G	GJB1	NM_000166.6(GJB1):c.316_320del:p.Leu106fs	coding	Pathogenic
X	71224081	T	TCA	C71224083A	GJB1	NM_000166.6(GJB1):c.375_376insAC:p.His126fs	coding	Pathogenic
X	71224160	TG	T	G71224161T	GJB1	NM_000166.6(GJB1):c.454del:p.Val152fs	coding	Pathogenic
X	71224166	T	TTATC	G71224172A	GJB1	NM_000166.6(GJB1):c.461_464dup:p.Leu156fs	coding	Pathogenic
X	71224190	CA	C	A71224191T	GJB1	NM_000166.6(GJB1):c.484del:p.Met162fs	coding	Pathogenic
X	71224328	CG	C	G71224329A	GJB1	NM_000166.6(GJB1):c.622del:p.Glu208fs	coding	Pathogenic
X	71290791	AGT	A	G71290796A	NONO	NM_007363.5(NONO):c.154+1GT[2]	coding	Pathogenic
X	71291820	G	GGA	A71291827G	NONO	NM_007363.5(NONO):c.201_202dup:p.Lys68fs	coding	Pathogenic
X	71291901	CTATT	C	A71291903G	NONO	NM_007363.5(NONO):c.279_282del:p.Phe94fs	coding	Pathogenic
X	71296622	TC	T	C71296624A	NONO	NM_007363.5(NONO):c.710del:p.Pro237fs	coding	Pathogenic
X	71299922	GCT	G	C71299927T	NONO	NM_007363.5(NONO):c.1282-19CT[2]	noncoding	Benign
X	71389518	T	TA	C71389529A	TAF1	NM_004606.5(TAF1):c.2701-57dup	noncoding	Benign
X	71393224	TTG	T	G71393264A	TAF1	NM_004606.5(TAF1):c.3052-76TG[19]	noncoding	Benign
X	71555839	AT	A	T71555840C	OGT	NM_181672.3(OGT):c.925-114del	noncoding	Benign
X	71564770	GT	G	T71564772A	OGT	NM_181672.3(OGT):c.2589+19del	noncoding	Benign
X	71609011	AC	A	C71609013T	GCNA	NM_052957.5(GCNA):c.1507del:p.Glu504fs	coding	Pathogenic
X	72490974	CTT	C	T72490976G	HDAC8	NM_018486.3(HDAC8):c.581_582del:p.Lys194fs	coding	Pathogenic
X	72572054	T	TA	C72572056A	HDAC8	NM_018486.3(HDAC8):c.164+2dup	noncoding	Pathogenic
X	72572125	TA	T	A72572138G	HDAC8	NM_018486.3(HDAC8):c.112-17del	noncoding	Benign
X	72572125	T	TA	G72572139A	HDAC8	NM_018486.3(HDAC8):c.112-29dup	noncoding	Benign
X	72572679	CACATACTG	C	G72572687C	HDAC8	NM_018486.3(HDAC8):c.75_82del:p.Val25_Ser26insTer	coding	Pathogenic
X	72573224	C	CA	G72573245A	HDAC8	Single_allele	noncoding	Benign
X	72573383	C	CT	G72573407T	HDAC8	Single_allele	noncoding	Benign
X	72573383	C	CTT	G72573407T	HDAC8	Single_allele	noncoding	Benign
X	72573383	C	CTTT	G72573407T	HDAC8	Single_allele	noncoding	Benign
X	72609625	CAG	C	G72609629T	PHKA1	NM_002637.4(PHKA1):c.2603_2604del:p.Ser868fs	coding	Pathogenic
X	72627248	T	TAGAC	T72627252C	PHKA1	NM_002637.4(PHKA1):c.1715-200_1715-199insTCTG	noncoding	Benign
X	72666201	C	CCT	A72666206C	PHKA1	NM_002637.4(PHKA1):c.812_813dup:p.Asp272fs	coding	Pathogenic
X	72676260	C	CAT	C72676278T	PHKA1	NM_002637.4(PHKA1):c.538-126AT[9]	noncoding	Benign
X	72713670	TCACA	T	A72713698C	PHKA1	NM_002637.4(PHKA1):c.78+103TG[13]	noncoding	Benign
X	72713670	TCA	T	A72713700C	PHKA1	NM_002637.4(PHKA1):c.78+103TG[14]	noncoding	Benign
X	72713670	T	TCA	C72713702A	PHKA1	NM_002637.4(PHKA1):c.78+103TG[16]	noncoding	Benign
X	72713670	T	TCACA	C72713702A	PHKA1	NM_002637.4(PHKA1):c.78+103TG[17]	noncoding	Benign
X	72713670	T	TCACACACA	C72713702A	PHKA1	NM_002637.4(PHKA1):c.78+103TG[19]	noncoding	Benign
X	74421631	CGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAG	C	G74421632T	SLC16A2	NM_006517.5(SLC16A2):c.-6_430+5del	noncoding	Pathogenic
X	74421733	G	GT	C74421735T	SLC16A2	NM_006517.5(SLC16A2):c.97dup:p.Ser33fs	coding	Pathogenic
X	74421735	CTG	C	T74421736A	SLC16A2	NM_006517.5(SLC16A2):c.99_100del:p.Glu34fs	coding	Pathogenic
X	74422037	GA	G	A74422044T	SLC16A2	NM_006517.5(SLC16A2):c.407del:p.Asn136fs	coding	Pathogenic
X	74422037	G	GA	T74422045A	SLC16A2	NM_006517.5(SLC16A2):c.407dup:p.Asn136fs	coding	Pathogenic/Likely_pathogenic
X	74524631	TC	T	C74524633T	SLC16A2	NM_006517.5(SLC16A2):c.850del:p.Leu284fs	coding	Pathogenic
X	74524634	T	TGCCCAGCTCCC	A74524646G	SLC16A2	NM_006517.5(SLC16A2):c.852_862dup:p.Gln288fs	coding	Pathogenic
X	74524775	CT	C	T74524776G	SLC16A2	NM_006517.5(SLC16A2):c.993del:p.Ala332fs	coding	Pathogenic
X	74740847	A	AT	C74740852T	NEXMIF	NM_001008537.3(NEXMIF):c.3709dup:p.Met1237fs	coding	Pathogenic
X	74740977	TC	T	C74740978T	NEXMIF	NM_001008537.3(NEXMIF):c.3579del:p.Asn1195fs	coding	Pathogenic
X	74741235	TGTCCAATG	T	A74741240T	NEXMIF	NM_001008537.3(NEXMIF):c.3314_3321del:p.Pro1105fs	coding	Pathogenic
X	74741740	AT	A	T74741742G	NEXMIF	NM_001008537.3(NEXMIF):c.2816del:p.Asn939fs	coding	Pathogenic
X	74741931	GA	G	A74741932G	NEXMIF	NM_001008537.3(NEXMIF):c.2625del:p.His876fs	coding	Pathogenic
X	74742020	G	GT	G74742022T	NEXMIF	NM_001008537.3(NEXMIF):c.2536dup:p.Thr846fs	coding	Pathogenic
X	74742278	TTTAAA	T	A74742282G	NEXMIF	NM_001008537.3(NEXMIF):c.2274_2278del:p.Asn758fs	coding	Pathogenic
X	74742390	TA	T	A74742393T	NEXMIF	NM_001008537.3(NEXMIF):c.2166del:p.Phe722fs	coding	Pathogenic
X	74742432	ACT	A	C74742435G	NEXMIF	NM_001008537.3(NEXMIF):c.2123_2124del:p.Glu708fs	coding	Pathogenic
X	74742683	GC	G	C74742684A	NEXMIF	NM_001008537.3(NEXMIF):c.1873del:p.Ala625fs	coding	Pathogenic
X	74742795	AGAAGCCTTTC	A	G74742796A	NEXMIF	NM_001008537.3(NEXMIF):c.1752_1761del:p.Leu584fs	coding	Pathogenic
X	74742840	TCTCA	T	C74742845A	NEXMIF	NM_001008537.3(NEXMIF):c.1713_1716del:p.Ser571fs	coding	Pathogenic
X	74742921	T	TAATGATG	T74742930A	NEXMIF	NM_001008537.3(NEXMIF):c.1629_1635dup:p.Asn546delinsHisHisTer	coding	Pathogenic
X	74743119	GC	G	C74743122A	NEXMIF	NM_001008537.3(NEXMIF):c.1437del:p.Leu480fs	coding	Pathogenic
X	74743207	AT	A	T74743208A	NEXMIF	NM_001008537.3(NEXMIF):c.1349del:p.Tyr450fs	coding	Pathogenic
X	74743472	G	GA	T74743478A	NEXMIF	NM_001008537.3(NEXMIF):c.1084dup:p.Ser362fs	coding	Pathogenic
X	74743512	C	CT	C74743514T	NEXMIF	NM_001008537.3(NEXMIF):c.1044dup:p.Glu349fs	coding	Pathogenic
X	74743761	TAATA	T	T74743764A	NEXMIF	NM_001008537.3(NEXMIF):c.792_795del:p.Phe264fs	coding	Pathogenic
X	74743987	T	TCC	A74743990C	NEXMIF	NM_001008537.3(NEXMIF):c.568_569dup:p.Asn192fs	coding	Pathogenic
X	74744412	GC	TT	G74744412T	NEXMIF	NM_001008537.3(NEXMIF):c.144_145delinsAA:p.Pro49Thr	coding	Benign
X	75060016	TATA	T	A75060020C	ABCB7	NM_001271696.3(ABCB7):c.2043+204_2043+206del	noncoding	Benign
X	75064861	G	GAA	G75064872A	ABCB7	NM_001271696.3(ABCB7):c.1831+199_1831+200dup	noncoding	Benign
X	75064861	G	GA	G75064872A	ABCB7	NM_001271696.3(ABCB7):c.1831+199dup	noncoding	Benign
X	75065284	ATCTC	A	C75065290A	ABCB7	NM_001271696.3(ABCB7):c.1660-51GA[2]	noncoding	Benign
X	75112750	G	GT	C75112761T	ABCB7	NM_001271696.3(ABCB7):c.333+126dup	noncoding	Benign
X	75114945	AGAT	A	G75114949T	ABCB7	NM_001271696.3(ABCB7):c.169-117_169-115del	noncoding	Benign
X	75431524	TA	T	A75431535T	ZDHHC15	NM_144969.3(ZDHHC15):c.380-5del	noncoding	Benign/Likely_benign
X	77454272	G	GT	G77454303T	FGF16	NM_003868.3(FGF16):c.378+42dup	noncoding	Benign
X	77508630	CTA	C	T77508633G	ATRX	NM_000489.6(ATRX):c.7201-3_7201-2del	coding	Pathogenic
X	77589942	T	TA	C77589950A	ATRX	NM_000489.6(ATRX):c.6111-9dup	noncoding	Benign
X	77681457	AAC	A	C77681459A	ATRX	NM_000489.6(ATRX):c.3736+61_3736+62del	noncoding	Benign
X	77682577	G	GC	T77682580C	ATRX	NM_000489.6(ATRX):c.2678dup:p.Thr894fs	coding	Pathogenic
X	77697541	TGAAAAAGAAAATAACTTTTTGTCCCTTCAACATCAACCAACCTCTTTGATCGTGACGATCCTGAAGACTTGGATTTTTCTGAAGAGCTAGTTCCCTAGATGTGAGACATAAATATAAAAGTGAATAAAATTCTCGAAACGGCATCCCTACAATTAGCTATTTCCCTATAGCAACTTCAATACAGTGATATAATGAGATGCTATTTATGTGCCTAGAATATTTTTCTAAAAGGAACTTCAAAAACTAATTCTCTACCACATAAGGAACACAGATGCAAAAAAATAAAAATTAAAACTAATTCTCATTTACTGCCAGGTTTCCTTGGCTGAAGATTAAATTTCTCGTTTTTTACATGGTTGCTGTGGCATGCTGCGGGGAATACACTGCTGCAAAATGATCATGGCCCCAGTCAACAAAGACAAAACAAAGATGCAGAAGTAATCAGATCTCAAGAGAAGTAGGGAGTTTCAAGGATCTAAATATGTTTCATTCTTCTCTAAGCTAACATATGGCATGAAGTAACTTCTACAACTTGCTTTGAGATACTAAACTTACCCTCATTTTGCCAGTATAATCAATATATTTTACTGGATTCAGTTTTTTTTTACAGTAGGTCAAAAAATTCCCAAAACCACAGTTGTGGACCTGTGTATCAGGCAAAGGACCTTGTTATGAGTTGCTATAATAATGCTTAGCAGACTCTAGATACCAAGTTTTGAGAGATTTCACAACCATGGAGTTCATGCCCTTAACATCCACCTCAAACACCTTTGGGGCAATATAAAGACAGTTTAATATCTATCTGTTGGAAGTCTTCAGTTGTCTGACTTTAGGTAAACCACTGAAGTGAACCACAACAATAACAGAAACAATGAACACCTGTTCTCAAACTGGAAAACAACGAAACTGAAGTATAATGACAACTGGGTATCAGTAGCCTTCGACACATACATGTGTCCAGAAGCAATCTAAAGACATATGCTCTACTTGGTTAATCGTAACTAACAAATATCTCTAAATAATTATCCTTACCTCTTCCTTGCTGTTTTCCATCATATCAGAGTTACTTCCAGAACCACTGATTTTATCTAAAAAAGAAGAAATAAAGAACATTATTTATCTCTTCGATGCATTATCAAACAGAACATCAATACCTATAACTCCACAAACCCATTCTCACACTATGAAGTCTGGCAGTATTGTTAACATACTACTCACATTAAAATATTCCTAGAAGTGTTCTTTCACTAGAATCACTCTCCTTTTGCATACTAACCCCTCCTTATAAAGCATGAAATCTCTGTAAAGATTACTTTGGTATAAAAACATTTCCTGTTGTAGTTTATAAATATTGCAAGACATTTCCCAGCAGAAGAAAATTTAAACTATTACACTAAAAATAAAAAACATACTACCAATAAAGTATATTTCATTTTACCATAAAATACTGGGAAAATAAGAGCAAACTAAACCAAAATCAAGGAGAAGGAAATAATAAAGATTATGGCAGAAATTCATGAAACTAATGAAATAGGAAATAGAAAAGCAATAGAAAAAAAAAATCAATAAAACCAAAGAGTAGTTCTTTTCCTTTTCCTCCTTTTTTTTTAGAGATAGGGTCTCACTCCATTGTCCATACTGGAGTGCAGAGGTGCTATCATGGTTCACTTTAGCCTCAACCTCCCGGGTTCAGGTGATCCTCCCCTCTAAGCCTCCCAGGTAGCTGGGACTACAGGCGCGCACCACCACACCTGGCTAATTTTTTGTGGAGATGGGGTTTTGTCATGTTGCCCAGCCTGGTCTCTAACTCCTGGGTTCAAGTGGTCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTGCAGGCGTGAGCCACAGGCACCTGGCCAAAAACTAATTTTTTAAAAAGATGATCAAAGAGGACCTTGGCCATGAAAGTTGGAATCTGCTAGGGATTGTGTAACAACTTACCTGTGGGGGAAGAAAAGATGAACAAACTTTAGGGTAGACTGACCAAGAAAAAAAAGAAACAAGACTCAAGTTACTAGAATCAGAAATGAAAAAGAGGACATTACTACTAATCTTACTGAAATAAACGGATTATAAAGGAATACTATGAACAACTGTGTGCCAAAAAACTAAATAACTTACATGAAATGAACAAATTCCAAAACACAAACTACTAAAACTGACTCAAGAAGAAACAGGTGTGAACAGACCTGTAACAATTGATGAGATTAAATTAGCAATAAAAAAAGCTACCCATAAAGAAAAGGCCCAAATGTTCTCACCACTTAATTATAACAAACATTTAAAAAAGGACTAATACCAATCCTTCACAAACTCTTCTAAAAAACAGAAAAGGAGGCAACATTTCCCAACTCATTTTATGAAAACAGTATTGCCCTGATATAAAAAATATATCACAAATAGAGAAAACTACAGGCAAGTATCACTTATGAATATAGATGCAAAAGTCCACAAAAATATTAGAAAACTTCAAATCAGAAGACAGGCTAGAGACTGGGAGAAAATCTTCACAAAGTACACATCTGATAAAAGACAATTATCCAAACTATACAAAGAATGCTTAAAACTCAACAATAAAACAAACAACATGATTTTAAAGCAAGGAAAAAAAAAGAAATATGTGAACAGACACCTCACCAAAAAAGATATACAGACGCAAATAAGCACATGAAAAAATGCTCAACATGTCATTAGGGAATTGCAAATTAAAACAATATACCCCTGCATGCCTATTAGAATAGCCAAAATCCAGAACACTGACTACATCAAAACTGCTGAGAAGCATATGGAGCAAAAGAAACTATCATTTATTGCTGGTGGGAATGCAAAATGATACAGCCACTCAGGAAAACAGTTCAGCAATTTCTTACAAAACTAAGCATACCATATATAAAGCAGCAATCACACTCCTTGGTATTTATCCAAAGAAGCTGAAAACATACATCCACAAAATAACCTGCATGGAGATATTTATAAATGTCTTTATTTTATGTAAACATCTTCATTTACTTATATAAATATCTTTATAAGCAGCTTTATTCATAACTGCCAAAACTTAGAAGCAACCAAGATGTCCTTTAGAAGATGAATGGATAAACAAACTGTAGTACATCCAGACAATGGAATATTATTCAGCACTAGAAATAAATTAGCTATCAAGCTACAAAGAGACATGGAGGAAACAAATGCAGATTACTATGTGAAAGAAGCCAGTCTGGAAAGGTTACATACATATGATTACAACTATGACAATCTGAAAAAGGCAAAACTATGGAGAAAGTAAAAAGATCAGTGGCTGCCAGTGCTCACAGGGGAGAAAGGGATGAAGAAACAGGCACAGCACAGGAATCTTTTTAGGGCAGTGAAACTATTCTGTATGATACCACAATGGTGAATGCAGGTCATTATATATTTGTCAAAAATCTTTAAAATGTATAACACCAAGAGTGAACCTTAACATAAACTATGCATTTGGGGTAATAATGACATGTCAATGTAGGTTCATCAACGTTATATAACAAATGTACAACTCTCTTACGGAATGCTGATAGTGGGAGATGCTGTGCATGTGTGGAAGCAGGGACATATGGGAACTCACTGTACTTTTTGCTCAATTTTGCTATGAACCTAAAACAGCTCTTTAAAAATATCTTTTTTTTCTGGCCAGGTGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGACCAATATGATGAAACCCTGTTGCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGCAATCCTAGCTACTCGGGAGGCTGAGACAGGAAAATCACTTGAATCCAGGAGGTGGAGGCTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAATCTTTTTTCTAATAAATTAAGGAAGAAAGGAAATTTTAAAATCTACAAAAACCCACAGGTAGGTAATATCATACTTAATGGCGACAGACTGAATGCTTTCCGAAACCCTTAAGATCAGGAACAAGGCAAGGAAATCTGCTCTCACCATTTCTATTCAACTTTGCACTACGGATTCTACTCAGAGCATGCATGTTAAAAAAAAAAATTGAAAGTCATCAGTATTTAAAATGAAGGTATGAAACTATTCCTATTAGAGGGCCAGGCGCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCCGAGGTCCGGAGTTCAAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAGTACAGAAATTTGCCGGGTGTGGTGGCGCATCCCTGTAATCCCAGCTCCTAGGGATGCTGAGGTAGGAAAGTCACTTGAACCCAGGGGGTAGAGGTTGCAGTGAGCTGAGGTCATGCCACTGCACTCCACCCTGGTCAACAAAGCGAGACTCTGTCTCAAAAAAAAATAAAAAATAAAACTATCCTTATTAGAATGTGACATTATCTCATACATAGAAGATCCTAAGGAATCCACTAAAGAATTATTGGAATAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAAAACTTTGGGAGGCCGAGGCAGGCGGATCACCAGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGTAAGCCGAGGCAAGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACCCCAGCCTGGGGAACAGAGCAAGACTATCTCAAAAAATAATAATAATAATAATAAAAGAACTATGGGAATAAAATTAGTTCAGGAAGATTGATGGGTACAAGGACAATAAACAAAAATCAATGTTATGTCTATACACTTGCAATGAATAATCTCAAAATGAAATTAAGAAAAGAATTCCATTTATAACAGAATTAGAAGGAAATAATTTGAAAAAAAAAGAAGTACAAAACATACTCTGAAAATTATAAAACGCTATTGAAAGAAATTAAAGACCTAAATCAATGGAAAAACACTTCATGTTCATGAATTAGAAGATAACATTTTTTTTTTACTAGGGACAGAGTCTCACCCTATTGCCCAGGCTGGAGTGCAGTGGTGCAATTATAGCTCACTGCCGCCTCAAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTATCCTGATTAGCTGGCACTACAGGCACATGCCACCATGCCTGGCTGATTTTTAAATGTTTTGTAGAGATGGGTTCTGGCTATGTTTCCCAGGCTGGTCTCAAATTCCTGTCCTCAAGTAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATAAGTCACCGCACCTCGCCAGTGATAAAACATTAAACATCCTTGAGATACAATTTACACACCATATAATTTACCCATTTAAAGTACACAATTCCTTCAGCCACCAGGCCAAGCCATAAGATTTATCATTCTTATGATGCCAGTGTTACAGAATCTTTGGGGTGTCACTTTTCTGGCCAGAAACATCTGCGGCTGGTGGCACCTGTGCCAGAGTTTTGCTCAGGCCTGCTGGGCTTGTCCCGCCTATTTGGCCTGGCCGGCTACACTCGGCTCATGCTACTGGCCTGTGTCCTATGATAGCCAAGGAAGACTGGATGAAGCAGCAAGGGGTATGTGAGCAAGTGTGGGGTCCGGTCACTGCGCAATCAGACATCCTGGCAGCTGCAGCAGGGCACGCAGCTCCAGGTGCCAGCATGGGCATCAGCTCTTTCTCTGTGAGGCTGCAGCTGGACCATGAACACCACAAGCAGCATCCACAGCTGGCACCAGGGAACACGGTGGCACCCA	T	A77697545G	ATRX	NM_000489.6(ATRX):c.134-4884_242+41del	noncoding	Pathogenic
X	77698604	GT	G	T77698606A	ATRX	NM_000489.6(ATRX):c.158del:p.Asn53fs	coding	Pathogenic
X	77855584	C	CA	C77855589A	MAGT1	NM_001367916.1(MAGT1):c.678dup:p.Val227fs	coding	Pathogenic
X	77856441	G	GA	G77856454A	MAGT1	NM_001367916.1(MAGT1):c.672+280dup	noncoding	Benign
X	77857403	G	GA	C77857409A	MAGT1	NM_001367916.1(MAGT1):c.484dup:p.Ser162fs	coding	Pathogenic
X	77988557	CT	C	T77988558C	ATP7A	NM_000052.7(ATP7A):c.437del:p.Leu146fs	coding	Pathogenic
X	77998768	G	GT	A77998771T	ATP7A	NM_000052.7(ATP7A):c.1543+86dup	noncoding	Benign
X	78002799	TAC	T	C78002843T	ATP7A	NM_000052.7(ATP7A):c.1544-273AC[21]	noncoding	Benign
X	78002799	T	TAC	T78002845C	ATP7A	NM_000052.7(ATP7A):c.1544-273AC[23]	noncoding	Benign
X	78003192	GTGATAGAAAATGC	G	A78003197G	ATP7A	NM_000052.7(ATP7A):c.1668_1680del:p.Ile556fs	coding	Pathogenic
X	78011198	TGGTCAAGAAGGATC	T	A78011204G	ATP7A	NM_000052.7(ATP7A):c.1898_1911del:p.Lys633fs	coding	Pathogenic
X	78011679	G	GTGAAT	T78011687A	ATP7A	NM_000052.7(ATP7A):c.2172+8_2172+12dup	noncoding	Benign
X	78012590	TA	T	A78012610G	ATP7A	NM_000052.7(ATP7A):c.2173-269del	noncoding	Benign
X	78012994	T	TTCTAGTTGCAATGTATGAGAGAGCCAAAGTGAACCCTATTACTTTCTTTGACACACCCCCTATGCTGTTTG	A78012996C	ATP7A	NM_000052.7(ATP7A):c.2289_2290insCTAGTTGCAATGTATGAGAGAGCCAAAGTGAACCCTATTACTTTCTTTGACACACCCCCTATGCTGTTTGT:p.Ile764fs	coding	Pathogenic
X	78031388	A	AT	A78031396T	ATP7A	NM_000052.7(ATP7A):c.3112-5dup	noncoding	Benign
X	78031587	A	AT	C78031595T	ATP7A	NM_000052.7(ATP7A):c.3294+12dup	noncoding	Benign
X	78039117	CAT	C	A78039118G	ATP7A	NM_000052.7(ATP7A):c.3658+136_3658+137del	noncoding	Benign
X	78042727	G	GA	T78042730A	ATP7A	NM_000052.7(ATP7A):c.3946dup:p.Ile1316fs	coding	Pathogenic
X	78124854	C	CT	C78124858T	PGK1	NM_000291.4(PGK1):c.937-17dup	noncoding	Benign
X	80022027	T	TAC	A80022069C	TBX22	NM_001109878.2(TBX22):c.-2-240AC[21]	noncoding	Benign
X	80022027	T	TACAC	A80022069C	TBX22	NM_001109878.2(TBX22):c.-2-240AC[22]	noncoding	Benign
X	80022128	GGTTTT	G	G80022149T	TBX22	NM_001109878.2(TBX22):c.-2-139GTTTT[4]	noncoding	Benign
X	80026733	AC	A	C80026737G	TBX22	NM_001109878.2(TBX22):c.667del:p.Arg223fs	coding	Pathogenic
X	80028131	TC	T	C80028133G	TBX22	NM_001109878.2(TBX22):c.949+57del	noncoding	Benign
X	80682123	AT	A	T80682134C	BRWD3	NM_153252.5(BRWD3):c.4398-30del	noncoding	Benign
X	80687100	GTA	G	A80687122G	BRWD3	NM_153252.5(BRWD3):c.3865-119TA[10]	noncoding	Benign
X	80692162	TAAG	T	A80692167T	BRWD3	NM_153252.5(BRWD3):c.3264-15_3264-13del	noncoding	Benign
X	80696519	TACACACAC	T	C80696557A	BRWD3	NM_153252.5(BRWD3):c.3068+176GT[18]	noncoding	Benign
X	80696519	TACACAC	T	C80696559A	BRWD3	NM_153252.5(BRWD3):c.3068+176GT[19]	noncoding	Benign
X	80696519	TACAC	T	C80696561A	BRWD3	NM_153252.5(BRWD3):c.3068+176GT[20]	noncoding	Benign
X	80696519	TAC	T	C80696563A	BRWD3	NM_153252.5(BRWD3):c.3068+176GT[21]	noncoding	Benign
X	80696519	T	TAC	A80696565C	BRWD3	NM_153252.5(BRWD3):c.3068+176GT[23]	noncoding	Benign
X	80696519	T	TACAC	A80696565C	BRWD3	NM_153252.5(BRWD3):c.3068+176GT[24]	noncoding	Benign
X	80733595	GT	G	T80733609A	BRWD3	NM_153252.5(BRWD3):c.1087-100del	noncoding	Benign
X	80735803	C	CA	T80735822A	BRWD3	NM_153252.5(BRWD3):c.914+167dup	noncoding	Benign
X	80735838	TAAC	T	A80735842C	BRWD3	NM_153252.5(BRWD3):c.914+147_914+149del	noncoding	Benign
X	80744297	T	TCAC	A80744301C	BRWD3	NM_153252.5(BRWD3):c.592-47_592-45dup	noncoding	Benign
X	80809411	A	AC	A80809419C	BRWD3	NM_153252.5(BRWD3):c.31+23dup	noncoding	Benign
X	83508386	ACT	A	C83508389G	POU3F4	NM_000307.5(POU3F4):c.65_66del:p.Ser22fs	coding	Pathogenic
X	83508493	TG	T	G83508496T	POU3F4	NM_000307.5(POU3F4):c.172del:p.Trp57_Val58insTer	coding	Pathogenic
X	83508663	C	CT	G83508665T	POU3F4	NM_000307.5(POU3F4):c.340dup:p.Trp114fs	coding	Pathogenic
X	83508931	CAA	C	A83508933G	POU3F4	NM_000307.5(POU3F4):c.609_610del:p.Arg204fs	coding	Pathogenic
X	83508988	CTG	C	G83508990A	POU3F4	NM_000307.5(POU3F4):c.666_667del:p.Tyr223fs	coding	Pathogenic
X	83509026	GT	G	T83509028C	POU3F4	NM_000307.5(POU3F4):c.704del:p.Phe235fs	coding	Pathogenic
X	85255275	T	TA	C85255277A	ZNF711	NM_001330574.2(ZNF711):c.97dup:p.Thr33fs	coding	Pathogenic/Likely_pathogenic
X	85268304	AAG	A	A85268307T	ZNF711	NM_001330574.2(ZNF711):c.1068_1069del:p.Arg356fs	coding	Pathogenic
X	85864777	ACAGAAATCTTCATTGGGGCAGATTTCCTGGAAAAGTGTTT	A	A85864781C	CHM	NM_000390.4(CHM):c.1775_1814del:p.Glu592fs	coding	Pathogenic
X	85864894	TA	T	A85864903T	CHM	NM_000390.4(CHM):c.1771-74del	noncoding	Benign
X	85873141	TG	T	G85873142A	CHM	NM_000390.4(CHM):c.1680del:p.Ser561fs	coding	Pathogenic/Likely_pathogenic
X	85873160	CAT	C	A85873163T	CHM	NM_000390.4(CHM):c.1660_1661del:p.Met554fs	coding	Pathogenic
X	85873208	AT	A	T85873212C	CHM	NM_000390.4(CHM):c.1613del:p.Asn538fs	coding	Pathogenic
X	85879004	CA	C	A85879006C	CHM	NM_000390.4(CHM):c.1569del:p.Val524fs	coding	Pathogenic
X	85879041	TG	T	G85879042T	CHM	NM_000390.4(CHM):c.1532del:p.Thr511fs	coding	Pathogenic
X	85879068	T	TA	T85879079A	CHM	NM_000390.4(CHM):c.1511-15dup	noncoding	Benign
X	85893511	ACATATGCAATACAAAAGTATTACCTCTTAATACCTCAAGTAGACCCACAATGCAAAAGTTATTAAGAGGTAGGGGCTTTGGAAGATGGTTAGATAACAAGAGCTCTGCCCTCATAAATGGGATTAGTGCTCTTAAAAAAGGGTTCAAGGAAGCTTTTTTATCCCCTTGCCTGTATGAGGACACACAGAAGGTGCCACTTATGAGGAAAGGGTCCTCATCAGACACTGAATCTGCTGGCACCTTGATTTTGGACTTTCCAGCCTCTAGAATTGTGAGCAATAAATTTCTATTGTTTATTATAAGTTACCCAGTCTAAGGTATTTTTTCATAGCAGCCCAAATGGACTAAGAAAGTAAAGAAAAAAAATTAACAATAAAAAAAATGTTATGCAACCAGGTTTTCAATAAGCTAAATAAAAATTAGAATTGAAAGTCATAAAATTCCTTAACTGGAGAACTAAAACATCATGCTTGTGAAGATTTAGCCACTGAAATGTTTATAGGTAAGGGGATGGTGTGAAATGACTTACTCTATAACCATCTTTTATATAAACAAAAACTGTGAATAATAAAAAAGTAAGAAAATCTCTACAAATACAACCTTCACAACTGTAATAACTGCCCCCTTTACCCCCTAAACAAACACAAAATACAAATAACCACTCTACTATGCTTACAGGTGCCTTTCATGCATGTCATCGTTGAAGAACATAACTCAATGAC	CTTCAACGATGACATGCATGAAAGGCACCTGTAAGCATAGTAGAGTGGTTATTTGTATTTTGTGTTTGTTTAGGGGGTAAAGGGGGCAGTTATTACAGTTGTGAAGGTTGTATTTGTAGAGATTTTCTTACTTTTTTATTATTCACAGTTTTTGTTTATATAAAAGATGGTTATAGAGTAAGTCATTTCACACCATCCCCTTACCTATAAACATTTCAGTGGCTAAATCTTCACAAGCATGATGTTTTAGTTCTCCAGTTAAGGAATTTTATGACTTTCAATTCTAATTTTTATTTAGCTTATTGAAAACCTGGTTGCATAACATTTTTTTTATTGTTAATTTTTTTTCTTTACTTTCTTAGTCCATTTGGGCTGCTATGAAAAAATACCTTAGACTGGGTAACTTATAATAAACAATAGAAATTTATTGCTCACAATTCTAGAGGCTGGAAAGTCCAAAATCAAGGTGCCAGCAGATTCAGTGTCTGATGAGGACCCTTTCCTCATAAGTGGCACCTTCTGTGTGTCCTCATACAGGCAAGGGGATAAAAAAGCTTCCTTGAACCCTTTTTTAAGAGCACTAATCCCATTTATGAGGGCAGAGCTCTTGTTATCTAACCATCTTCCAAAGCCCCTACCTCTTAATAACTTTTGCATTGTGGGTCTACTTGAGGTATTAAGAGGTAATACTTTTGTA	A85893511C	CHM	NM_000390.4(CHM):c.1465_1510+677delinsTACAAAAGTATTACCTCTTAATACCTCAAGTAGACCCACAATGCAAAAGTTATTAAGAGGTAGGGGCTTTGGAAGATGGTTAGATAACAAGAGCTCTGCCCTCATAAATGGGATTAGTGCTCTTAAAAAAGGGTTCAAGGAAGCTTTTTTATCCCCTTGCCTGTATGAGGACACACAGAAGGTGCCACTTATGAGGAAAGGGTCCTCATCAGACACTGAATCTGCTGGCACCTTGATTTTGGACTTTCCAGCCTCTAGAATTGTGAGCAATAAATTTCTATTGTTTATTATAAGTTACCCAGTCTAAGGTATTTTTTCATAGCAGCCCAAATGGACTAAGAAAGTAAAGAAAAAAAATTAACAATAAAAAAAATGTTATGCAACCAGGTTTTCAATAAGCTAAATAAAAATTAGAATTGAAAGTCATAAAATTCCTTAACTGGAGAACTAAAACATCATGCTTGTGAAGATTTAGCCACTGAAATGTTTATAGGTAAGGGGATGGTGTGAAATGACTTACTCTATAACCATCTTTTATATAAACAAAAACTGTGAATAATAAAAAAGTAAGAAAATCTCTACAAATACAACCTTCACAACTGTAATAACTGCCCCCTTTACCCCCTAAACAAACACAAAATACAAATAACCACTCTACTATGCTTACAGGTGCCTTTCATGCATGTCATCGTTGAAG	noncoding	Pathogenic
X	85901091	GCA	G	A85901095G	CHM	NM_000390.4(CHM):c.1340_1341del:p.Val447fs	coding	Pathogenic
X	85911216	A	AATAT	G85911237A	CHM	NM_000390.4(CHM):c.1244+25AT[12]	noncoding	Benign
X	85911216	A	AAT	G85911237A	CHM	NM_000390.4(CHM):c.1244+25AT[11]	noncoding	Benign
X	85911216	AAT	A	A85911235G	CHM	NM_000390.4(CHM):c.1244+25AT[9]	noncoding	Benign
X	85911261	TTTCTGGA	T	G85911266T	CHM	NM_000390.4(CHM):c.1237_1243del:p.Ser413fs	coding	Pathogenic
X	85956165	T	TG	A85956171G	CHM	NM_000390.4(CHM):c.1153dup:p.Gln385fs	coding	Pathogenic
X	85956204	GGA	G	A85956206T	CHM	NM_000390.4(CHM):c.1113_1114del:p.Pro372fs	coding	Pathogenic
X	85956325	TG	T	G85956330T	CHM	NM_000390.4(CHM):c.993del:p.Asn332fs	coding	Pathogenic
X	85956334	AT	A	T85956339G	CHM	NM_000390.4(CHM):c.984del:p.Lys328fs	coding	Pathogenic
X	85956347	TA	T	A85956350T	CHM	NM_000390.4(CHM):c.971del:p.Tyr323_Leu324insTer	coding	Pathogenic
X	85956357	TA	T	A85956361T	CHM	NM_000390.4(CHM):c.961del:p.Tyr321fs	coding	Pathogenic
X	85957620	TG	T	G85957623A	CHM	NM_000390.4(CHM):c.940+234del	noncoding	Benign
X	85957948	T	TA	G85957952A	CHM	NM_000390.4(CHM):c.846dup:p.Asn283Ter	coding	Pathogenic
X	85957983	ATAT	A	T85957987G	CHM	NM_000390.4(CHM):c.820-11_820-9del	noncoding	Benign
X	85958863	GT	G	T85958865C	CHM	NM_000390.4(CHM):c.816del:p.Glu272fs	coding	Pathogenic
X	85958911	AC	A	C85958912T	CHM	NM_000390.4(CHM):c.768del:p.Glu256fs	coding	Pathogenic
X	85958975	CA	C	A85958976G	CHM	NM_000390.4(CHM):c.704del:p.Leu235fs	coding	Pathogenic
X	85958976	A	AG	C85958978G	CHM	NM_000390.4(CHM):c.703dup:p.Leu235fs	coding	Pathogenic
X	85963706	T	TA	T85963709A	CHM	NM_000390.4(CHM):c.660dup:p.Ile221fs	coding	Pathogenic
X	85963724	TTC	T	C85963726G	CHM	NM_000390.4(CHM):c.641_642del:p.Arg214fs	coding	Pathogenic
X	85963750	G	GT	A85963752T	CHM	NM_000390.4(CHM):c.616dup:p.Thr206fs	coding	Pathogenic
X	85963779	CAT	C	A85963780G	CHM	NM_000390.4(CHM):c.586_587del:p.Met196fs	coding	Pathogenic
X	85963897	TG	T	G85963898T	CHM	NM_000390.4(CHM):c.469del:p.Gln157fs	coding	Pathogenic
X	85963976	T	TGGAGTTTGCAGATGTCACAAGAG	C85964000G	CHM	NM_000390.4(CHM):c.368_390dup:p.Thr131delinsLeuLeuTer	coding	Pathogenic
X	85978796	AAT	A	T85978798G	CHM	NM_000390.4(CHM):c.283_284del:p.Ile95fs	coding	Pathogenic
X	85978835	ATTTT	A	T85978836C	CHM	NM_000390.4(CHM):c.242_245del:p.Glu81fs	coding	Pathogenic
X	85981820	TA	T	A85981836G	CHM	NM_000390.4(CHM):c.117-12del	noncoding	Benign
X	85981820	T	TA	G85981837A	CHM	NM_000390.4(CHM):c.117-27dup	noncoding	Benign
X	86027275	C	CAAAGG	A86027280G	CHM	NM_000390.4(CHM):c.116+215_116+216insCTTTC	noncoding	Benign
X	86041956	ACCACATTCAGGCATCCTGGGAGAAGATTAAGTTAGAAATATAGGAAATCACTTGTGTTAAGGCTGGCACAAACAGATATTTGGTAAATATCAGTTTTCACAACTCCTCCTGCAATATTACTATCCCCCAAGGCTTACAGAAGTGATGCTATTCCAACATCATCATAAGTCAATGAGCTGCCAGTCAAGGTTAACTACCTTAATGTTTAAATTCACCAACATCAAGGAATGGGACTGGAACATCCCAACATCAAGGAAAGGCTACTTAAGTGACCTTTTCTGAAAAAAGCAGCCTATCATTTTTAAGAAAATGCCTTTTCTAATCAGTCACTGTATTAGGCTGTTCCTGTGTTGCCATAAAGGAATGCCTGAAACTGGGTAATTTATAAAGAAAAGAGGTTTAATTGGCTCAGGGTTCTGCAGGCTGTACAAGCATGGTACAGGCATCTGCTCGGCTTCTAGGGAGGCCTGAGGGAGCTTTTAGTCATAGCAGAAGGCAAAGGGGAAGCAGGCATCTCCCTTGGTGAGAGGCAAGGCAAGCAAGTGTGGGGAGATGCCACACACTTTTAAACAACCAGTCGACCAGGCACAGTGGCTCCCATCTGTAATCCCAGCAATTTGGGCCACCAAGGCAGGTAGATTGCTTGAGTTCAGAAGTGCAAAACCAGCCTGGGCAACATAGGCAGACCCCATCTCTACAAAAATAAAAAAAAAAAAATTAGCCAGGCATGGTGATGCATGTCTGTAATCTCAGCTACTCAGGAGTCTGAGGTGGGAGGATTGCTTGGGCCCAGGAGGTTAAGGCTGCAGTGGGCCATGATTGTGCCACTGCACTCCAACTAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAATTAAAAAATAAACCACCAGATCCTGCAAGAACGAATTCACTATTACAAGAAGAGTACCAAGCCATGAGGGATCCACTCCCATGACCCAAACACATCCCATCAGGCCCCACCTCCGACAACGAGGATAACATTTCAACATGAGATTTGGGCAGGACAAATATCTAAACCCTATCAGCCATTTTTATAGGAAAATTTCTGAAGTATATGAAACACTGACTTTCCTTCTTAAAAAGACTACACAGAACAGAATTTAGCCTTTTCTCAAGGACATGGTGTCATAAATAGATATATACAATGGTAATTTTAGGGCTGGTAGATCCCTACCTTGGAGATCATCTATTGAAATTTCTCACTTTACAGATGAACTAAATGATGTCACAAGAAATTCTGTAATTTTCCCAAAATCACACAATAGGATGGTCATGTGATTATCATACACCATGCTGCCACATCTACTACTGTATGGTGCTAAACACTATCTAGCAAGATAATCAGGATTTAGGGGCAGTACTCCTTATAATTTCCATGTTTATCTTTGCTATCCCTTCTCTTTCCCCATAATCTTTAGCAATAAAACTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGTGACACAACTATAGCTCACTGCAGCCTCAAACTCCCAGTTTCAGGCAATCCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTACAGGCACGTGTCACCATACCCAATTAATTTTTGTATTTTTTTTGTAGAAATACAGTTTTGCTGTGTCACCCATTTCAGCTACTTGGGAGGCTGAGGTTTCAAACTCCTGAGCTCAAGCAATCCACCTGCCTCGGCTTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCTGGCCAATGAAACTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTTTCTCTGACTAGAGTGCAGTGGTGCCATCTAAGCTCACTGCAACCTCCGCCTTCCAGGATCAAGGGATGCCTGTGCCTTAGCCTATAGAGTAATGGGGATTACAGGCCCGTGCCACCATGCTTGGCTAACAATAAAACTCTTAAATCAAAAGAATATATGTGTTTATCCTATGCAGTAGAAAAATTAAGCTAACCTACTCTGCAGCCCATCTTAGGGGAAGAACTCCAAAAGATGTGAGCAGTGTGCTTTTAAAAAGAAAAAATGCAGGCTGAATGTCTACATGGTCTTCAAAAAGAAAGAAGGATGCAATGAAAAGCCTACATTGTCTTAAGAACAGCTTTGGGGATATGACTGTTAGGAAGGCCAGAACGTTCCTGAGAATAGGCAATACAGTAAACTTCACAAGGGAAGGGACTAGGTTCTCAGTAAATGTGGGTTGAATGACCTGAAAAATGAGTATTTGTCACTACACTAAATGTTATCAGGCCTTTGTGATGTTTGATGTAAGTTTGCATTTTAGGTGTTTTTCTCTTCCCTTTCCTATACAAACTGTCATTTGTATGTCTAATAGCAACCCCACCAAACATAGTCTTTGCAGAAGTTGATAACATTCCTTGTATCTTCTAAGGGGGTGGTTCTAATATGCTGAGCTTGCTAGAATTATTTTTAAAATGAGGATGAATATGTTCTAAGTGATGATCTCAGGGATTCCCCTATGTATGAAGCATGTCAATATTATCATATAGATCTTATAACTTCCATCTTGACTGCTCTTCTGTTGAGTTCTTGGCTCTGCTGTGCTGCAGATTACACAGGCTTCCAGATAAGTCACCTCCAGTGAGATGTAATGTTACTGGGACGACTTTTAACGTTCAACCAATGGTACTTGTCTATAATCCACAAAACTGTCATTTAAATGACTTTTTAAATGGCAAAATACCCTGAAAATGACAATTCTGTACCCAAGCTGAAGAGCACCTTCTAGACCCTTACCACATATATCTATTTTTATCCTCTCCCTTGAGACTCCAGTTGGCCCTCCTTCTTTATTCCATTTTCTTCTATTTTTTCCGCAATTCCACTTTAGCTTACTCTTCTGTCTTTGGATGTTCAAGAGATATTTACTGTATTTTCTAATCAGAAGGAAATGGGCTTAACTAAGAAAATACAAAGTTTATTTTTTTCCATAATCTCTCGAAAATATGATCTTAAGGAACAATTTCCATCTTGCATTACAGAAAATGATAATGCAAGTTAATCAAGGTGAAAGGGATTATAAAATATTATCTTCCATGATTATACTTGATGAAGCAATTGTTCCTTTATGACATTTTAACTAGGACTAAATCTGCTAAAAAGTATATCTAATAGCCTATTTCTTCATGTTTCTGATGCATGCATTATTGCTTCTACTTTTATTAATACAACTGAATCTATGAAACACTGCTTTTTCTATGATTTGCTCAATGTAATACATTTAATAAAGCAAACATTTTAAAGGCTACTTTCAGCAAACTATTTCACAAGAGAAATATCCCAAGCACACTAAAAAATAAATCAAATTAAATCATGATTGGAATTGTTGGAATCATTTATTTGGGGAATGACTCTTTTATTCAATTTTTACACTTTTGATGTACCTAAAAGCAAAATTACATATCATAAATTTAAGCAATGTGCTTGATAAAACCTAGAATGTGTCACCAATAAACAATATGAAAAATTTAAGTTTTAAGATTAACTTCAAATAAGTTCTTCCCAAACACTGAAAAATAACATTGCACTCACTGGGATAAGTATAAAATGAGTATTTTTCCAAATATAAGCGATGTCACCTGATGCAATTCTCTGGCTCACTCACTGTAACTTCCTACCTCTACCATAACAGACTCCATCAGGATGGATGTCTTCCAATTCTGAACTGTACAGAAGGCAAAATATTTATGAAAAACATTAGCATCATTCATAAGAATTAACATTCATCAATTAAAATTTGAACCCAGACCTGAAAAAAAAAATTGTTGATTAAAAAAATTGTTAAAAACACCTCAAGTTCCTACACAAAAAAAGCAAGATTATAAAACTCAAGTATGGTATAACAACTATTCCAAAATGGATGCTGTTCTCAGTTTTAGTATAGACTTAAAAGAAAAAATGAATAGTCCATTGGCTCTTTCCAGCTCTCATCCAACATCTGTTCATAGCAGCTACAACCAGGTTATTTGCAGCCATGCAGTTATTTTCAGGCTAAGAATAAACCTGTCCATGCTGTTCTGAGAACTGTTACCCAGGCATTTTTTGTTAGACAACATAAAGACCATCTATTTTACCTTCCTTATATTCAAAAACAAGGAAACTGAGGCTCAGAGAGATTTAGTGCCTGGCCCTCCCAATTCAAGCAATTCATACTAGCACTAAGCAAGACCTAAAACCAAGTTTTCTCAATTGTTTCTACGAATATGGGTCAACTCTGAGGATCAGAACCACTGACTGTTTTCCTGGGATGGAATGGGCCTTTGGAAATTTACCAGCTGTGTGATCCTGAGCAAATTACAACTTTTCCAAGTCCCCTTTTCCTCTTCTACAAAATGCAGAGAGTACCTACTACTCTAACAAGGTTGTGAGGATTATGTTCGGCTTGTAAAGTGCTTAGCACAGTGATTAGGAAATTTTAAGCATTCGAAAACAGGTAGCTATTATTTTTACTCCCAACCTGAAAACATGGCTGCTCCTAATCATGGCTGTATGAGAAGACAACGAACTGAATTCATTAACACAATGGACAGGGTCCCATCCACCAGAGCTTCTCTGGCCTACCACATTCTACAAACAGTAAAAAACCCCATCAAACAACCTATTTCATTCCATCTAAAATGATCATCCCTTACACTATTAAAAAAAATTGAAATTGCTGCCATATGTGTTCTGCTACGTGTTGTACACTGAATATGTCAACTAGAAACTGCAGAGGAGTTTCTGGTTCCACCCAAAACATGAAGAACAAACGACGGGAAAACAAGAGTTAGATAAGGTCACACACCTGAACTGGAACTCAGGACCTTATTCTCAGCACATTTAGTTATTGATGGTAGAAAGCAAGATGCTTTAAGCACCATAAAGCAGGAATAATGGCTACCTCAACAAAATAAAATTCCCTAGGTTTCTCAACAAAATAGAATCCGTTTACTTTCCCTAGTAAATTCATACGCACATGGGCAATAATTGAGCATCTTTCTTGTAAAACTGAGGATTAAGCTGTGTCTGAGCTGCGATGTATGCTAAGATCATACAAATCTATGAAAAAGTCCTATGAAATGGCGAGACAAAATGATGGGGAATATCACCTTGAAATCAATAAGGAAGGAATCATAATGTCTTGCCAAAGTCGTCTCCGTTGATAAAATCCCGACCCTCCATTTCATGACACTGCACATCCACTTCCCTCTAAGGAAATTAACAGGAATCACCGCAGCAACCAACCTCAGCAATCAGCATCGACCAGATCAACCCCTACTCAAATGGCGATAAGCACTGCGGGTCCCAGCCCCTCCCTGTAACTGCCAACTCCCGCGCTGACTCCGGACTACCTCACTTCCTTTCAGTTCTCCCTCCCACTCTCGACCCACGATGTTTGTCCCAAAACTCGCCACTGACAGAAAAAACAGAAACAAGACAGTCTTCCTAAACTTTGTCCAGGAAGCACCAGGCTACACATACCCGTCCCTATTACGATCACATCAAACTCCGAAGGGAGAGTATCCGCCATCTTGACGGGAAACGTGTCATGTGACTATTACTTGTGGAAATGAGATCAAGTTAGGCATTCCCTCCGTGGAAGGCGGAAAAGAAAACAGTGCATTCTGGGTGTTGTAGTTCTTGGGTGGAAGGTCCAGGCAGGCGACTACAGTATTATATTTAAAATGTTTACACGTAAGTTAAAAGCTCGACTCATTTTCCAGGCTGAATGCTGTAGCTCATTTAGCCTGGAGGGTTGAAGTAGGAAAGAAATGTAGATTTTTATTCCGTTAGCTAGGATGAATGTGGGAGACTTGGATACCCCTTGACAATACTGAAGCAAAATTGTTAGGAGACACGGAGAGCGGAGTGAAATTGAAGGCGGTTTGCTCTGTGAACAAAGGAGACTTTCATTCCAGCCTAAAAAACTGTTTCCCGCCATCGTTTCTGTACTTTCGTGTTGGCCCTCGAGGCATGGTTTTTCACACCAATACTTTCAGAATATATTCCATATCTTTTTCGTTTCCATGTCTCCTCGATGAAAACCCACAAAAAACCTCTCACCCTAGTTTCGCCAGAATGGAACTCCCACCGCGTCCGTATTTGTTCCAGTTAGTCCAGACAGCCACTCGGGCAATAAATTAGCCTTGCTTTACAGGAGGGAAAAAATATATGAAAGCATGGTTGCGCTGGATAAGCGTCTGTTGAGTCTGAATTCGATTTTCCGCACCAACTAGATAAGTTCATGTAAGATTCTCCTTAGTTTACATTTAGTTTCCAATCTATTAGTTTCCATAAGCTACCGTAGAAATAATTAAGGTAAAATGGTCTTTATATTAAAGTGATTGTATCTGATGAGGGGCTTTAGG	CCTAAAGCCCCTCATCAGATACAATCACTTTAATATAAAGACCATTTTACCTTAATTATTTCTACGGTAGCTTATGGAAACTAATAGATTGGAAACTAAATGTAAACTAAGGAGAATCTTACATGAACTTATCTAGTTGGTGCGGAAAATCGAATTCAGACTCAACAGACGCTTATCCAGCGCAACCATGCTTTCATATATTTTTTCCCTCCTGTAAAGCAAGGCTAATTTATTGCCCGAGTGGCTGTCTGGACTAACTGGAACAAATACGGACGCGGTGGGAGTTCCATTCTGGCGAAACTAGGGTGAGAGGTTTTTTGTGGGTTTTCATCGAGGAGACATGGAAACGAAAAAGATATGGAATATATTCTGAAAGTATTGGTGTGAAAAACCATGCCTCGAGGGCCAACACGAAAGTACAGAAACGATGGCGGGAAACAGTTTTTTAGGCTGGAATGAAAGTCTCCTTTGTTCACAGAGCAAACCGCCTTCAATTTCACTCCGCTCTCCGTGTCTCCTAACAATTTTGCTTCAGTATTGTCAAGGGGTATCCAAGTCTCCCACATTCATCCTAGCTAACGGAATAAAAATCTACATTTCTTTCCTACTTCAACCCTCCAGGCTAAATGAGCTACAGCATTCAGCCTGGAAAATGAGTCGAGCTTTTAACTTACGTGTAAACATTTTAAATATAATACTGTAGTCGCCTGCCTGGACCTTCCACCCAAGAACTACAACACCCAGAATGCACTGTTTTCTTTTCCGCCTTCCACGGAGGGAATGCCTAACTTGATCTCATTTCCACAAGTAATAGTCACATGACACGTTTCCCGTCAAGATGGCGGATACTCTCCCTTCGGAGTTTGATGTGATCGTAATAGGGACGGGTATGTGTAGCCTGGTGCTTCCTGGACAAAGTTTAGGAAGACTGTCTTGTTTCTGTTTTTTCTGTCAGTGGCGAGTTTTGGGACAAACATCGTGGGTCGAGAGTGGGAGGGAGAACTGAAAGGAAGTGAGGTAGTCCGGAGTCAGCGCGGGAGTTGGCAGTTACAGGGAGGGGCTGGGACCCGCAGTGCTTATCGCCATTTGAGTAGGGGTTGATCTGGTCGATGCTGATTGCTGAGGTTGGTTGCTGCGGTGATTCCTGTTAATTTCCTTAGAGGGAAGTGGATGTGCAGTGTCATGAAATGGAGGGTCGGGATTTTATCAACGGAGACGACTTTGGCAAGACATTATGATTCCTTCCTTATTGATTTCAAGGTGATATTCCCCATCATTTTGTCTCGCCATTTCATAGGACTTTTTCATAGATTTGTATGATCTTAGCATACATCGCAGCTCAGACACAGCTTAATCCTCAGTTTTACAAGAAAGATGCTCAATTATTGCCCATGTGCGTATGAATTTACTAGGGAAAGTAAACGGATTCTATTTTGTTGAGAAACCTAGGGAATTTTATTTTGTTGAGGTAGCCATTATTCCTGCTTTATGGTGCTTAAAGCATCTTGCTTTCTACCATCAATAACTAAATGTGCTGAGAATAAGGTCCTGAGTTCCAGTTCAGGTGTGTGACCTTATCTAACTCTTGTTTTCCCGTCGTTTGTTCTTCATGTTTTGGGTGGAACCAGAAACTCCTCTGCAGTTTCTAGTTGACATATTCAGTGTACAACACGTAGCAGAACACATATGGCAGCAATTTCAATTTTTTTTAATAGTGTAAGGGATGATCATTTTAGATGGAATGAAATAGGTTGTTTGATGGGGTTTTTTACTGTTTGTAGAATGTGGTAGGCCAGAGAAGCTCTGGTGGATGGGACCCTGTCCATTGTGTTAATGAATTCAGTTCGTTGTCTTCTCATACAGCCATGATTAGGAGCAGCCATGTTTTCAGGTTGGGAGTAAAAATAATAGCTACCTGTTTTCGAATGCTTAAAATTTCCTAATCACTGTGCTAAGCACTTTACAAGCCGAACATAATCCTCACAACCTTGTTAGAGTAGTAGGTACTCTCTGCATTTTGTAGAAGAGGAAAAGGGGACTTGGAAAAGTTGTAATTTGCTCAGGATCACACAGCTGGTAAATTTCCAAAGGCCCATTCCATCCCAGGAAAACAGTCAGTGGTTCTGATCCTCAGAGTTGACCCATATTCGTAGAAACAATTGAGAAAACTTGGTTTTAGGTCTTGCTTAGTGCTAGTATGAATTGCTTGAATTGGGAGGGCCAGGCACTAAATCTCTCTGAGCCTCAGTTTCCTTGTTTTTGAATATAAGGAAGGTAAAATAGATGGTCTTTATGTTGTCTAACAAAAAATGCCTGGGTAACAGTTCTCAGAACAGCATGGACAGGTTTATTCTTAGCCTGAAAATAACTGCATGGCTGCAAATAACCTGGTTGTAGCTGCTATGAACAGATGTTGGATGAGAGCTGGAAAGAGCCAATGGACTATTCATTTTTTCTTTTAAGTCTATACTAAAACTGAGAACAGCATCCATTTTGGAATAGTTGTTATACCATACTTGAGTTTTATAATCTTGCTTTTTTTGTGTAGGAACTTGAGGTGTTTTTAACAATTTTTTTAATCAACAATTTTTTTTTTCAGGTCTGGGTTCAAATTTTAATTGATGAATGTTAATTCTTATGAATGATGCTAATGTTTTTCATAAATATTTTGCCTTCTGTACAGTTCAGAATTGGAAGACATCCATCCTGATGGAGTCTGTTATGGTAGAGGTAGGAAGTTACAGTGAGTGAGCCAGAGAATTGCATCAGGTGACATCGCTTATATTTGGAAAAATACTCATTTTATACTTATCCCAGTGAGTGCAATGTTATTTTTCAGTGTTTGGGAAGAACTTATTTGAAGTTAATCTTAAAACTTAAATTTTTCATATTGTTTATTGGTGACACATTCTAGGTTTTATCAAGCACATTGCTTAAATTTATGATATGTAATTTTGCTTTTAGGTACATCAAAAGTGTAAAAATTGAATAAAAGAGTCATTCCCCAAATAAATGATTCCAACAATTCCAATCATGATTTAATTTGATTTATTTTTTAGTGTGCTTGGGATATTTCTCTTGTGAAATAGTTTGCTGAAAGTAGCCTTTAAAATGTTTGCTTTATTAAATGTATTACATTGAGCAAATCATAGAAAAAGCAGTGTTTCATAGATTCAGTTGTATTAATAAAAGTAGAAGCAATAATGCATGCATCAGAAACATGAAGAAATAGGCTATTAGATATACTTTTTAGCAGATTTAGTCCTAGTTAAAATGTCATAAAGGAACAATTGCTTCATCAAGTATAATCATGGAAGATAATATTTTATAATCCCTTTCACCTTGATTAACTTGCATTATCATTTTCTGTAATGCAAGATGGAAATTGTTCCTTAAGATCATATTTTCGAGAGATTATGGAAAAAAATAAACTTTGTATTTTCTTAGTTAAGCCCATTTCCTTCTGATTAGAAAATACAGTAAATATCTCTTGAACATCCAAAGACAGAAGAGTAAGCTAAAGTGGAATTGCGGAAAAAATAGAAGAAAATGGAATAAAGAAGGAGGGCCAACTGGAGTCTCAAGGGAGAGGATAAAAATAGATATATGTGGTAAGGGTCTAGAAGGTGCTCTTCAGCTTGGGTACAGAATTGTCATTTTCAGGGTATTTTGCCATTTAAAAAGTCATTTAAATGACAGTTTTGTGGATTATAGACAAGTACCATTGGTTGAACGTTAAAAGTCGTCCCAGTAACATTACATCTCACTGGAGGTGACTTATCTGGAAGCCTGTGTAATCTGCAGCACAGCAGAGCCAAGAACTCAACAGAAGAGCAGTCAAGATGGAAGTTATAAGATCTATATGATAATATTGACATGCTTCATACATAGGGGAATCCCTGAGATCATCACTTAGAACATATTCATCCTCATTTTAAAAATAATTCTAGCAAGCTCAGCATATTAGAACCACCCCCTTAGAAGATACAAGGAATGTTATCAACTTCTGCAAAGACTATGTTTGGTGGGGTTGCTATTAGACATACAAATGACAGTTTGTATAGGAAAGGGAAGAGAAAAACACCTAAAATGCAAACTTACATCAAACATCACAAAGGCCTGATAACATTTAGTGTAGTGACAAATACTCATTTTTCAGGTCATTCAACCCACATTTACTGAGAACCTAGTCCCTTCCCTTGTGAAGTTTACTGTATTGCCTATTCTCAGGAACGTTCTGGCCTTCCTAACAGTCATATCCCCAAAGCTGTTCTTAAGACAATGTAGGCTTTTCATTGCATCCTTCTTTCTTTTTGAAGACCATGTAGACATTCAGCCTGCATTTTTTCTTTTTAAAAGCACACTGCTCACATCTTTTGGAGTTCTTCCCCTAAGATGGGCTGCAGAGTAGGTTAGCTTAATTTTTCTACTGCATAGGATAAACACATATATTCTTTTGATTTAAGAGTTTTATTGTTAGCCAAGCATGGTGGCACGGGCCTGTAATCCCCATTACTCTATAGGCTAAGGCACAGGCATCCCTTGATCCTGGAAGGCGGAGGTTGCAGTGAGCTTAGATGGCACCACTGCACTCTAGTCAGAGAAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAGTTTCATTGGCCAGGTGCAGTGGCTCAGGCCTGTAATCCCAGCACTTGGGGAAGCCGAGGCAGGTGGATTGCTTGAGCTCAGGAGTTTGAAACCTCAGCCTCCCAAGTAGCTGAAATGGGTGACACAGCAAAACTGTATTTCTACAAAAAAAATACAAAAATTAATTGGGTATGGTGACACGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATTGCCTGAAACTGGGAGTTTGAGGCTGCAGTGAGCTATAGTTGTGTCACTGCACTTCAGCCTGGGCAACAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAGTTTTATTGCTAAAGATTATGGGGAAAGAGAAGGGATAGCAAAGATAAACATGGAAATTATAAGGAGTACTGCCCCTAAATCCTGATTATCTTGCTAGATAGTGTTTAGCACCATACAGTAGTAGATGTGGCAGCATGGTGTATGATAATCACATGACCATCCTATTGTGTGATTTTGGGAAAATTACAGAATTTCTTGTGACATCATTTAGTTCATCTGTAAAGTGAGAAATTTCAATAGATGATCTCCAAGGTAGGGATCTACCAGCCCTAAAATTACCATTGTATATATCTATTTATGACACCATGTCCTTGAGAAAAGGCTAAATTCTGTTCTGTGTAGTCTTTTTAAGAAGGAAAGTCAGTGTTTCATATACTTCAGAAATTTTCCTATAAAAATGGCTGATAGGGTTTAGATATTTGTCCTGCCCAAATCTCATGTTGAAATGTTATCCTCGTTGTCGGAGGTGGGGCCTGATGGGATGTGTTTGGGTCATGGGAGTGGATCCCTCATGGCTTGGTACTCTTCTTGTAATAGTGAATTCGTTCTTGCAGGATCTGGTGGTTTATTTTTTAATTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCTAGTTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTTAACCTCCTGGGCCCAAGCAATCCTCCCACCTCAGACTCCTGAGTAGCTGAGATTACAGACATGCATCACCATGCCTGGCTAATTTTTTTTTTTTTATTTTTGTAGAGATGGGGTCTGCCTATGTTGCCCAGGCTGGTTTTGCACTTCTGAACTCAAGCAATCTACCTGCCTTGGTGGCCCAAATTGCTGGGATTACAGATGGGAGCCACTGTGCCTGGTCGACTGGTTGTTTAAAAGTGTGTGGCATCTCCCCACACTTGCTTGCCTTGCCTCTCACCAAGGGAGATGCCTGCTTCCCCTTTGCCTTCTGCTATGACTAAAAGCTCCCTCAGGCCTCCCTAGAAGCCGAGCAGATGCCTGTACCATGCTTGTACAGCCTGCAGAACCCTGAGCCAATTAAACCTCTTTTCTTTATAAATTACCCAGTTTCAGGCATTCCTTTATGGCAACACAGGAACAGCCTAATACAGTGACTGATTAGAAAAGGCATTTTCTTAAAAATGATAGGCTGCTTTTTTCAGAAAAGGTCACTTAAGTAGCCTTTCCTTGATGTTGGGATGTTCCAGTCCCATTCCTTGATGTTGGTGAATTTAAACATTAAGGTAGTTAACCTTGACTGGCAGCTCATTGACTTATGATGATGTTGGAATAGCATCACTTCTGTAAGCCTTGGGGGATAGTAATATTGCAGGAGGAGTTGTGAAAACTGATATTTACCAAATATCTGTTTGTGCCAGCCTTAACACAAGTGATTTCCTATATTTCTAACTTAATCTTCTCCCAGGATGCCTGAATGTGGT	A86041956C	CHM	NC_000023.10:g.85296959_85303375inv	noncoding	Pathogenic
X	100350658	T	TG	C100350662G	PCDH19	NM_001184880.2(PCDH19):c.2662dup:p.His888fs	coding	Pathogenic
X	100350701	CA	C	A100350702G	PCDH19	NM_001184880.2(PCDH19):c.2619del:p.Glu874fs	coding	Pathogenic
X	100399183	AGAAATTTCTATAGAATCTTATATTTGCCACATCATAGCACTTATCATTCTATGCTATAATTGCTTAATAAATGTTGCTTTCTTGAATGGATTAATTAATTAATTAGGAAAATATAAAGATAATGTAGGAAATATATCAAAATGTTATTATCCTAGCAATGGAGAATGTCCCATTGCACCCTATATTAGCATTTATTACTCTATATTGCAAATCACCTATTTACTTGATTGTCTCACACTTTAGAATGTGCATTTCTTGTCTTTTTCATCTCTCTAACGCCAGAGCCTAGAGCAGTGCCTTACAAAGAGTAGGCTCAACAAATATCAGTTGAATGAACAAATCAATCATCCCTGCTCTTCTATAGATTTCATTGGACCTAAGTATTCCACCGAGTCCAGTGGCCTTTGGTATAAAAGAAAAGAAGTGTCATTTTCCCTACGCAGGGCATTGTGACTGATTCAGGTTAAATGGCCTGGTCTGTATTCAGCTGTAAGTGGGCCTCTCTCCTTTCTGAATGGGTTTGCCAGTTGAACTCTCCAGGAGGGACTGAATATTAGAAATACACACAACCTCACTATGTCTAGTACACACTGTCTTGGCCATGACCAGCTGTACACACCAAAACTGTGTAATTTTGTTAACCAAGGAAAAGCATCTGGCTTTGTGAGTCAGAGACAGGATCAGAACTGAGATTTTAAACGGCTTTTCTAAATAATTGAAGCAATATTTTGTTTCATTCAGCCCATGGAAGAATCCCAGAAATGATACTAAGTCTTAGGTAAACCAATCAGATGTCGTCATATGTTTTCTGTCCTCTCCATCTATTTCATAGACACCAGAACTCACATTTCTCTAGTGCCTTGAATTGATTGCCTAAGTGATCACCAAGTCCTCAGGATTCAACCCTTTTGTCCATCTCCACAAGTAACAGTGCCGTTACTTGTGAACAACTGAACCCCACAACTTTGGCATCTTTCACCTCTATTGTTTAAATGATCAATATGAGTAGTATGGCCATAATACTTTGTAGGATGTATCTATATAGAAGCAGCCTAAATTCCTCTTTGGTTACAAGTGCCTAGGGAGACACAATCAGTAGTGCAAGCCATTGTAACACTGATTCTCCAACTGTATAGTGAAGAGGTCTACTATTTTGGGGACACCAATGAGTTGAACCTACTACACTACACAAGTCATATTCCTTGGAACAACTTTGCATGACAGGTGTGCCCATTTTGTAGATAAAGAAACAGAGTCTTATGTTCCACAGCAAGCAGTGATTCCTGGATTCAAAATCATGATCAATCTGATTCCACTACACACCACTACCTCTCACTTTCTATTGCTGAGCTATTGGTGATCCACAAGTAGTCTTGTAAGTAGTCTACGGCCTAGGCCTTAGTAGTATTCACTGACATTAATAATTATAACTGAGTTTACCTAGCACAATACTGGACTTTCAAAAAATCCTTATTTATAGAGTTATAAATTGAAAATATTGGTGCTTTTGTTGCTGGCAGAATACCATCAGTTACTCATCAAAAGCACTGCTGTTTGGCCCCATTAATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCATTTTATGTATGCATCATAGCCTGGGTATGTCAGGCTGAATTACTTTTAAGGCAGGAAGGTGTCACTGAAATCACATTTGCCAGGCAGTATAGAGTCCTTCAGTCTCGTCCTCCCTCTCTTGATGACCAGCTTTGTGAGTCTGAGTAAGTCCCTTAGCATCTCTGGACCTCTGTTTCATCATCTACTGAAGGGCAACCTATCAAGATACCTGATTGTGAGGATCAAACGAAACAATGTTTGGGAAGGTGCTTTGAAAGATGTGAAAGTGCTCTCTAAGTATGCAGTATTCTTTTCGCTGGTAGCTTGGAAGAGGACATATGCCTCCCAGTGCATCAGATTTCTAACCAAAGAGGGACTTAAGCAATTCATGGAAAAATGAAATCAACTTAAGAAATGTTACTTATAGCCTTCCTCCCAGCCACCCACCAGCCATCATCCATATACCACTCTACTGCCCTAAAATATTTCAATAGCCAGCAAACATCTGACCACATCACATTTTAAAAAATATTTCTACTTAAGCCCGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACCTGCAGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCTGGAGGCTGGAGCAGGAGAATTGCTTGAAGCCGGGAGGTGGAGGTTGCGGTGAGCCAACATTGTGCCATTGCACTCTAGCCTGGACAACAAGAGAAACTCCATCTCAAAAAAAAAAAAAAAATTCTACTTAAATACATTCATTCCCAGTGAAGAGAAAGAAACAGAGCTCACTCAAATGCATAGATAATTCTTATTCTTATTCTTACTCTTTTTTTTTTTCGTTGTTAGAGACGAAGTCTCACTATATTGCCCAGGCTGGCAAGCTGGTCTGGAATTCCAGGCTCAACCGATTCTCCTGCCTCGGCCTCTCAAAGTACTGGGATTACAGGTGTGAGCCACTGCAACCAGCCAACTAATTCTTAAATTTTCAGCAATAATGACAGTTTCAATCTCCTCAACCATCAAATGTTACCACTAGAACTGCTAAGAAATGGCAAAGTGGCTTTTTAATTTTTTTGCTTTGCCTCCCTTTAACCAGCCTATCCATATTCTCTCACCAAAATGCTAGAGAACAGTGATGTGACGAAAGAAAAAGCAAATGGGGTCTTTAGGAGGCTGAATCACTCTCACACTGGAAAATTGGTCCCAGGGCATTAGAGGGTTTCATCCATTTTCAACACTACTTGATGACTCTTTCTAAGCCACTTTACTGGCATACTGGTACTGCTGGCTGTCAAGCATGCTATATTTGCAACAGGTGGAGCAAACTTGAGTTATGCCAGGATAATGATTTCAAGGGCTCAGACTCTTTGAGTTACCAATTCCAATACCCATACCTACACAAAGGCCCAGTATGTTGGGTTACCTTTTGCTCCAAGAAGCACTGATAGCAAACCCTTAGTATGAAAATGGGCATAAGCAGAGAAATTCTCCCCACCCCTGCCAGGGGATGTGCCAGCACAGCAGCTTATGGTATCCAGCGAGCAGCTAAAGAAGGAGACCTGGGAGAACCTCACAGAGCCACTTAGCTGCACTCACCTCAGGCAGAGGCACACCGTTGATAATCAGGTCAGGCTGCTGGGGCCCCTGGCTGTTGAAAGAGTGATGGTAGATGTGGTTAGCACTGGTGTTGCGGGTATTCTGGTTCTCCACATTCAGGAAAGTGCTCTCAGAGCGGCGGCAGCCCAGGGGCAGCGTCTGCTGGTGGTAGTCAAAATAGTTGAGGGAGGAGGTCAGGGAAGAGCAACTGACAACGTTCATCTTGTCTGTCTCCTCCACATCCCGGGGTACCAGGCGGATGTCATTCTTACTGATTTTTTTCTTCTTGCTTGATTTCTTTTGATGCCCATAGGAGTACTCAGCAATTCTATGTGACAGAAAAGGCAGCATGAATCACTAACACCCTCCCAAATCATGCACTGATTAATAAACATTAAGCACCCCAGAGGGTTGCACCCCATCTCCGCTCCAGCTCCTTATTCTGGTGCATTACATCATCGGGTTTCTCCCTGTGCTTTTTACAAGGGAAAACAGGCTGAGGGCCATAAACTTTTCATATTAAACATAGTAACCTCCCACCAACCCCCCCTAAAAAAGTTTCTATACTTTGGATTTGGAATTTTTCATTGTGAGTGGCCTGTGAGCACGGGTGGGGGGACAGGGAAAGTTGAGCCTATGGGAGAGAAAGCATGAAAATGCTCAAATCTGGAGCTTCCCTGGAACCAAAAGGAACTCCTAGGTGAAATACAAAGCAAGTCACCAAAGAGGAGATAGAGGAAAATAAAAAATACCCGCCCCCACCCCCTTGCCAGTTCCTCCAGGCATTTGCCATGTGGCACACGCCCTCAATCAGCTTCCTCTATGACTCACTCGATCAGTTTTGGACTGGGGTAGGAGATCAGACCCCATTCTTTCGCGTCTCCTCCACACCCTCCTCCCTGCCCTAGCCCGGTTCCCTTTTACTCACCCCCCGACCCCCTCCTCTCCTAGAAAAATCTAATAGCCAAACCCATTTAAATGAGGGGAAATGCCTTTTTACCTCTTTCCCCTTAGGCTCACTTTCTCCTCTGTCTTTTTGTCTTGCTCCTCGCTAATGGGAGAAACCGAGATGCAATGCAGACACTTGCTGTTTTGTCCTTTTATAAAACAGCCGAGGAGACAAGTGATGGTTAAACAATTACTGCAAAGGAATTTAAAGGTTAGTGCATTCAGCATCCTTCTCCATTCAGGTGTACCTACAAGCAGCTGTGCTGCAACTGGAACATAAAGAGCTCAATTTAATTAACACTGACACAGACCCAGCAACGTGCACCAAAGACACCAGGCATTAAGAGACTTGTCAAAAGAAATACATTTAAATGTAGCCAGATTCTCAAAGTCATTTATTACTTTGCACATAATGATTCAGTTTCTTTTTTGGAAATTCGATTTCTGGGCAATAATCAGCAAAACAATAGGGTTAATAAGTAATACAGGTTGATCTTTACAAGGGAAAGACTGTGCCTTATTCTCACTCGACAAAGCTAATTGTCTGAATACAAAAAGGGAGCCCAATTCAAGCAGCAATTGCAGATCATCTCGCAAGTCTCATAAATGAATGCATTTCAGGAAGAGGTTCTGCGGAGGCTTAGAAAAAGAAACCTCTGCCTAATCACATGGAAAGACACGCTCCTGAACTTTAGGTTTCTAAAAAGTCTGAGCAGATAGGGAGACTACACATCTACAGAGGCAAATTCTTGCTCTGTCCCCAGGATCTACCTAGAGTTAAGCAATTGAGTTCCCCTCACCCCTTCGCTCTGTGCTCAGGAAGATTTGCAGTGATGGCAAACTGGTACTACTGGGGTTTGGGAGCAGATAAAATCCCCAAAACCCTAGTACTAAGGTTGATTTTCTATTCTAATCTGTTTACAGAATCAATGGGAAATTTTAATCATTTTGTTTACCCAAGATGAGTAACTTTGGCAATGCCCCATCAAATTATTCAGCTGAAGCATTCATTGTGCAGCCCTTTCTGTATTAACCAATTATTTAATTATACTGTACTTCATTAATCCCAAACCATCACAGGAAACAGAACGCTTCACAAAATACACATTTGGGTGAAGTTGGAGAGCACTGAGATTTACTCTTTTTTTTTTTTTTCAATATTCAGATGCTCTCCTCCTGTTTAATCATCTCCTTGGCAAGTTCTCAGAAAGGGCTCTCACTTCTAGTCATACATCACCAAGAGGTGGCAAAGCCTTCAATATCTTTATTTCAAGCTGATTTCTTTTTCATCAAGGAAAGGATCTTATGCATTTACTTTATGCTGAGAAGATGGCTTAAAAAGAGTCCTCTCCATAATTATCTCCATATAAATAAAATTTTATTGACCCCACATTTTTCTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACAAACTGAACCTACAGGAACATATTTTGACTGATTAACATGCAGACACAAATGGCACAAAAGACACACTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACTGTGCCCCAGACACCAAGTTGTGGTAGTTGGTGGTTTTCCTAAAAATATGATCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTGTTTTTCCTACCATAACTTCATGGAGACAGCTATGCAAATTTTAAAATGATAATTGCGTTTCTGCTCACCATCATTATGTGACAGAATCCATTCAAACACTAAATGATTGTCTTCCAGCAAATTGTCAGATCAAAAGAATTGATCAACTTGGACTGTCACAAACTTTTCACCCTACAAAAAGAAGCACTGCAAGTATGCTGCATGCATTTAAGTAGGAAACAAAAGCACCAGGATTTTCACACAGAGACACAGATAAACACACCTTATTCATCCAAGACAAAGAAAGAAAACTTGGCTTTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCATTGACCTGGTCTATTTCAAAGAAGCCGCGGTCGCCCTCGGTCATGTCGTAGGTGACTCGGCCATTTTCGCCCTCATCGTAGTCTTCTGCCTTGACAACAGTCACCAGGTAGCCTATGCCAGAGTTGCGGGGTATGTAGACCTCGGCAGTGCCGTTAATCAGAGGTGGGGCTGTGATGACCGGGGTGTTGTCGTTGACGTCGAGGAT	A	A100399186T	PCDH19	NM_001184880.2(PCDH19):c.1657_2616+3340del	noncoding	Pathogenic
X	100402581	GA	G	A100402584G	PCDH19	NM_001184880.2(PCDH19):c.2558del:p.Phe853fs	coding	Pathogenic
X	100402637	CA	C	A100402638T	PCDH19	NM_001184880.2(PCDH19):c.2502del:p.Asn834fs	coding	Pathogenic
X	100402747	TTG	T	G100402749C	PCDH19	NM_001184880.2(PCDH19):c.2391_2392del:p.Asp797fs	coding	Pathogenic
X	100406602	GAGCAGGGGACA	G	C100406605T	PCDH19	NM_001184880.2(PCDH19):c.1985_1995del:p.Leu662fs	coding	Pathogenic
X	100406831	AAC	A	C100406833G	PCDH19	NM_001184880.2(PCDH19):c.1765_1766del:p.Val589fs	coding	Pathogenic
X	100406926	CG	C	G100406927T	PCDH19	NM_001184880.2(PCDH19):c.1671del:p.Asn557fs	coding	Pathogenic
X	100407032	GT	G	T100407034A	PCDH19	NM_001184880.2(PCDH19):c.1565del:p.Asn522fs	coding	Pathogenic
X	100407097	G	GC	A100407099C	PCDH19	NM_001184880.2(PCDH19):c.1500dup:p.Pro501fs	coding	Pathogenic
X	100407157	CG	C	G100407161T	PCDH19	NM_001184880.2(PCDH19):c.1440del:p.Asp481fs	coding	Pathogenic
X	100407171	GAC	G	C100407175G	PCDH19	NM_001184880.2(PCDH19):c.1425_1426del:p.Ser476fs	coding	Pathogenic
X	100407177	GAGAGC	G	G100407181T	PCDH19	NM_001184880.2(PCDH19):c.1416_1420del:p.Leu473fs	coding	Pathogenic
X	100407221	C	CCTCAACAT	T100407222C	PCDH19	NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG:p.Gln459_Val460insCysTer	coding	Pathogenic
X	100407225	T	TA	G100407227A	PCDH19	NM_001184880.2(PCDH19):c.1372dup:p.Tyr458fs	coding	Pathogenic
X	100407244	GC	G	C100407245G	PCDH19	NM_001184880.2(PCDH19):c.1353del:p.His452fs	coding	Pathogenic
X	100407479	C	CA	C100407481A	PCDH19	NM_001184880.2(PCDH19):c.1118dup:p.Ser374fs	coding	Pathogenic
X	100407503	GCCCGGGGGGGCGCT	G	C100407505T	PCDH19	NM_001184880.2(PCDH19):c.1081_1094del:p.Ser361fs	coding	Pathogenic
X	100407557	G	GTTGAT	G100407563T	PCDH19	NM_001184880.2(PCDH19):c.1036_1040dup:p.Asn347fs	coding	Pathogenic
X	100407711	C	CCACT	G100407716C	PCDH19	NM_001184880.2(PCDH19):c.883_886dup:p.Gly296fs	coding	Pathogenic
X	100407714	CT	C	T100407715G	PCDH19	NM_001184880.2(PCDH19):c.883del:p.Ser295fs	coding	Pathogenic
X	100407764	AT	A	T100407765A	PCDH19	NM_001184880.2(PCDH19):c.833del:p.Tyr278fs	coding	Pathogenic
X	100407787	C	CGTTG	G100407794T	PCDH19	NM_001184880.2(PCDH19):c.807_810dup:p.Gly271fs	coding	Pathogenic
X	100407883	TA	T	A100407886C	PCDH19	NM_001184880.2(PCDH19):c.714del:p.Phe238fs	coding	Pathogenic
X	100407994	A	ACTGC	G100407999C	PCDH19	NM_001184880.2(PCDH19):c.600_603dup:p.Ser202fs	coding	Pathogenic
X	100408015	TC	T	C100408016T	PCDH19	NM_001184880.2(PCDH19):c.582del:p.Ser195fs	coding	Pathogenic
X	100408091	CG	C	G100408092T	PCDH19	NM_001184880.2(PCDH19):c.506del:p.Thr169fs	coding	Pathogenic
X	100408252	TTA	T	A100408254C	PCDH19	NM_001184880.2(PCDH19):c.344_345del:p.Ile115fs	coding	Pathogenic
X	100408296	ATG	A	T100408297A	PCDH19	NM_001184880.2(PCDH19):c.300_301del:p.Ile101fs	coding	Pathogenic
X	100408306	T	TG	C100408311G	PCDH19	NM_001184880.2(PCDH19):c.291dup:p.Lys98fs	coding	Pathogenic
X	100408439	C	CA	G100408441A	PCDH19	NM_001184880.2(PCDH19):c.158dup:p.Asp54fs	coding	Pathogenic
X	100408502	C	CTCCT	C100408507T	PCDH19	NM_001184880.2(PCDH19):c.92_95dup:p.Gln33fs	coding	Pathogenic
X	100408535	GGCGGCAGCCT	G	G100408539T	PCDH19	NM_001184880.2(PCDH19):c.53_62del:p.Gln18fs	coding	Pathogenic
X	100409709	TCCGCCGCCG	T	C100409732G	PCDH19	NM_001184880.2(PCDH19):c.-1142CGG[7]	noncoding	Benign
X	100409709	T	TCCGCCGCCG	G100409741C	PCDH19	NM_001184880.2(PCDH19):c.-1142CGG[13]	noncoding	Benign
X	100410349	GCGC	G	G100410354A	PCDH19	Single_allele	noncoding	Benign
X	100661933	G	GT	G100661960T	SRPX2	NM_014467.3(SRPX2):c.164-217dup	noncoding	Benign
X	100661933	GT	G	T100661959G	SRPX2	NM_014467.3(SRPX2):c.164-217del	noncoding	Benign
X	101241465	G	GT	A101241475T	DRP2	NM_001939.3(DRP2):c.560-194dup	noncoding	Benign
X	101248396	AGCT	A	G101248397T	DRP2	NM_001939.3(DRP2):c.1454+107_1454+109del	noncoding	Benign
X	101258427	GCCGAGGCCCGTAT	G	G101258430T	DRP2	NM_001939.3(DRP2):c.2512_2524del:p.Glu838fs	coding	Pathogenic
X	101345280	TCTAAACAGGGACTTGAAGCTTTTAGAGATGTTCATTTCCCCAGATTTCATGGATTTGCACTAGAGGCTCCCAACAAGTAGGTCCATTTTAGGTCTATACTCCAGTCTACAAGGATTTGAAATAAGAGGAGAATCCAGTCAATACAACCTCTACTATACTCACGGACTTGACTGCCAGCACATAACCGCTTCCCTCCCCATCTCATCTCTAGGTTCTCTTTTCTCTCAAAAAGGTCAGGAACCCCTGGAATACTGTGCTGTACCTTACACAGAGCAGGTACCCAGACTGACTGACTACATTTTAACCTTGGAATCAGCCCATGCTAAATCTCTCCGGGTTGCAGATAATAACTGCAATAGGATGCCTTCTCAATCACAGAGTTGAATCTTATATAGCTTTTATTTCAGTGATCAGAAGAATGCAGTAAATGGAATCTACACTAACTAACATTAGGCATGCACCTCTACCTGAAACTGCTGTTAGCTTCTGATTGGCCTAAATCTTTATAACTTATTTAGGCACATCACTGAATTTTTTGTACCCTGATATACAGGGTAAGTTAATTTCTTCCTTGTGGCAGTCTAGTAATAAGAATTATGTTCACTGGCTAGATTCCTTTATAACTAAAGGCCTCTAGACTCTCAGGCTGCCTACCCTACCTTGAGACTTACTTAATATGGATATTTAAGCAAATCATCATATAGGAAAGGGAGATCAAGATAACTGAAGTGTACTGTATAAACACTCTTACAGATATTTTTCTCCAGCATTGACAATCAAACACTAGATAAGGATACCAAATTATTCTTCCCCTACTTCTGCCCTTTCTGATAAACACAAGGATCTCCCCTGAAATCAGAAATGACTCCACACAAATGAGAGATTTTTACGTATGTGGTCCCACTATCAAAATTATAGGAAGCAGTTAATGGGGCTTTGAGAAAAGCATAGTCCCATGTACAGTAATATGCATCTAAATAGAGTTTTCTTTCGCCTGTCAATTATTTTCACAAGATTAGCATTAAAAAATACAAGCAAACATATGACCCTTAAGCTTCACACACAAAAAATTGGTCTTTGTTCATTCTCAGATGACAGGATGTCCCAAGAGTAACAAAAGATGGGAGCCAATCCTCTCATAGCTGTTTCTTCAATCATCCCATCAACAGCTCTTCATTTCTTGAACTACCTTCCTTTTCCAAAGAGGTAATGCTGAGATCAGTCAGAAAGGCTTTCTGAGAAAACTGGCTTGGATTTCTGGGTCTGTTCCAGTCGATTCAAGATGAACTGGCTTGTATCAATGAAGCGCTCAACGCAGTTCACAAAACAGGCCTCAGCCCGACTGTCCAACTTTGGCCCAGGCTTGTCCATGCACTTCTCCTGCTCAGGACAAGATACAGAATCACAAAGGGAACTTGGAAAGAAAAAGACGGTTGGGGGCAGGGGTCCCTTTTTGTTGCTTAGAGAAAAAAAAACTTTACCTAAAAATAATATCTGATATGTTACTGATAGTTCACATTTGGCAGCTGACCAAGTATATAGCAATGTTCTCTAGCCTTACATTAAATTCTTACAACAATACTATGGAATAGATACTATTATAAATCCTCATTTTACAAAGAGGAAAACTGTGGCACAGAGATACTTTACCCAAAATCATAGGGCCAGAAAATGGCAGAGCTGGGATATTCCAGAGCAAGAAAATGGCAAAATATAAGTGAAGTAACCTTTCAATGAATTTGGTTTTAACTCCACAATGCTGTTTGAACTAAATGCCTTTAAGTTAACTACAGAATAAAAGGGTGAAAGGATAAATCATTTCAGCAAGGTACCCTAAAACCTACCAAAGAAGAAAAAAAATATGACTTGAGATTCTATAACCTTGTCTACTTAAGCTAGAGATTCTTGAATCCTGTCATGATGAATGGAAAATTGAATGCATTTTCCTAAGGGGTTCATCATAGCTTACAGTTTTTTTTCCTTTCTTTTCTTTTCTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCACTGTAACCTCCGCCAGGTTCAAGCCATTCTCGTGCCTCAGCTTCCTGAGTAG	T	A101345283G	TIMM8A	NC_000023.10:g.100600271_100602381del	noncoding	Pathogenic
X	101346611	GC	G	C101346613T	TIMM8A	NM_004085.4(TIMM8A):c.181del:p.Ala61fs	coding	Pathogenic
X	101348597	ATG	A	T101348598A	TIMM8A	NM_004085.4(TIMM8A):c.66_67del:p.Ile23fs	coding	Pathogenic
X	101350089	G	GA	G101350106A	BTK	NM_000061.3(BTK):c.1909-149dup	noncoding	Benign
X	101353218	G	GGTAT	A101353223G	BTK	NM_000061.3(BTK):c.1880_1883dup:p.Ile629fs	coding	Pathogenic
X	101353968	TATTCATCATCC	T	T101353970G	BTK	NM_000061.3(BTK):c.1641_1651del:p.Asp548fs	coding	Pathogenic
X	101354671	GT	G	T101354674A	BTK	NM_000061.3(BTK):c.1589del:p.Asn530fs	coding	Pathogenic
X	101356197	G	GT	G101356199T	BTK	NM_000061.3(BTK):c.1420dup:p.Thr474fs	coding	Pathogenic
X	101356236	T	TA	C101356238A	BTK	NM_000061.3(BTK):c.1381dup:p.Tyr461fs	coding	Pathogenic
X	101356875	TC	T	C101356878A	BTK	NM_000061.3(BTK):c.1257del:p.Lys420fs	coding	Pathogenic
X	101357554	A	ACACTGGATATTTGAGC	T101357572A	BTK	NM_000061.3(BTK):c.1116_1131dup:p.Ser378fs	coding	Pathogenic
X	101358329	GTAGT	G	G101358332A	BTK	NM_000061.3(BTK):c.1079_1082del:p.Asn360fs	coding	Pathogenic
X	101358420	A	AT	C101358422T	BTK	NM_000061.3(BTK):c.991dup:p.Ile331fs	coding	Pathogenic
X	101358615	AC	A	C101358618T	BTK	NM_000061.3(BTK):c.974+1del	noncoding	Pathogenic
X	101358697	CT	C	T101358698G	BTK	NM_000061.3(BTK):c.895-2del	coding	Pathogenic
X	101360021	A	AAT	G101360037T	BTK	NM_000061.3(BTK):c.839+53AT[8]	noncoding	Benign
X	101360035	T	TAG	T101360048A	BTK	NM_000061.3(BTK):c.839+41CT[7]	noncoding	Benign
X	101369740	TTTCTTTG	T	C101369743A	BTK	NM_000061.3(BTK):c.391+251_391+257del	noncoding	Benign
X	101369744	TTTG	T	G101369747A	BTK	NM_000061.3(BTK):c.391+251_391+253del	noncoding	Benign
X	101369854	A	AT	C101369862T	BTK	NM_000061.3(BTK):c.391+143dup	noncoding	Benign
X	101370036	TC	T	C101370037A	BTK	NM_000061.3(BTK):c.352del:p.Glu118fs	coding	Pathogenic
X	101371716	G	GA	T101371723A	BTK	NM_000061.3(BTK):c.241-16dup	noncoding	Benign
X	101374555	G	GCCTCCTCCAGA	G101374556C	BTK	NM_000061.3(BTK):c.220_221insTCTGGAGGAGG:p.Pro74fs	coding	Pathogenic
X	101374560	AT	A	T101374567C	BTK	NM_000061.3(BTK):c.215del:p.Asn72fs	coding	Pathogenic
X	101374611	T	TG	A101374613G	BTK	NM_000061.3(BTK):c.164dup:p.Ile56fs	coding	Pathogenic
X	101375146	C	CA	C101375148A	BTK	NM_000061.3(BTK):c.138dup:p.Gly47fs	coding	Pathogenic
X	101397888	C	CT	A101397891T	GLA	NM_000169.3(GLA):c.1210dup:p.Arg404fs	coding	Pathogenic
X	101398056	G	GC	T101398058C	GLA	NM_000169.3(GLA):c.1042dup:p.Ala348fs	coding	Pathogenic
X	101398070	AG	A	G101398072T	GLA	NM_000169.3(GLA):c.1028del:p.Pro343fs	coding	Pathogenic
X	101398165	CA	C	A101398166T	GLA	NM_000169.3(GLA):c.1000-67del	noncoding	Benign
X	101398302	GA	G	A101398303T	GLA	NM_000169.3(GLA):c.999+67del	noncoding	Benign
X	101398370	C	CTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGGTCCTGATTGATGGCAATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTCGGAGGTCATTAGACATGAATAAAGGAGCAGCCATGATAGCCCAGAGGGCCATCTGAGTTACTTGCTGATTCCAGCTGAGGCCAAAGTTGCCAATCACTAACTGAGAAAAAGAATGAAATAATTCAAACAAGAGAGGAGGAAACATTCTTAAAGTTACCTAGATGACCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTAGCCTTCTCTTGAGTTTACAGATTGAACGTCTCCATAAGGAGGTCTAAACCCTTATAATGAATTTTCACTGTAAGAAGTTTGCTTCAGAAGTAGGCCATATAACTTGAAATCCCTTAAAGTTAATTTACTTCTATAATCAGAACTAAAATGGTCTTAGTAAAATTAAAAGCTGCAAAATTACATAGGACTCCATCAAGTATTAAGAAAACTTAAATCCCAGGCATATAGTTTGTTAATGGAATAAAAAGTTTGTAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTAGCGCACGCCTATAATCCCAGCTACTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGTGAGACTCTGTCGCAAAAAAAAAGTTTGTAGATAGGCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGAACTGATGATGACATTTATATTTTTTATAACTCTGTTAAGTCTCAGGGTTTTTTTCTTTAAAAAAAAAACTGATATTTACATTTTAATATGATAACTCTAGTGCTGCTTGGAAAATAGATGGGGGTTGAGACAGAGTGGAAGCAGAGAGATCAGGTGGTCCCAGCAGTCTGGTTGAGAGCCGATAGTAGCTTGGAAGGCCAGGGTGCATGTAGTGAAGATGGAAGGAAGTGGGCTGATTCAGGAGATATTTTAGAGATACTGGTGGAAGGACTGTTGATAGACAGGACATGAATGGTGAAATAAAGGGGAAGACACAAGGATGACTTTCCAGGTGATGGTAGCTTAGGCTATAATTACAGCAGTGGGGATGGTGAGAAGTGGTTGGAACCTGGGAGAGATGGTAGGATGATAGTAAGTAACGTTGGACTTTGAAGGAGACCTTGGTTTCCTTTGTTGTCAAGTTCTATCTATCAGTACAGTTCTATTGGATTCTGGGCTCACTATCTCACCTTTTGAAAGGGCCACATATAAAGAGGCCACTCACAGGAGTACACAATGCTTCTGCCAGTCCTATTCAGGGCCAAGGACATGTGCTTATAACCTGTATGAGAAAACAATGGGTAAAATAAGGGAAAGAAATGAATTTCCAGCTGGGGCTATATATATAGTTATTTTATTTTATTTTATTTTAATTTTTTGAGATGGGGTTCAGTCTGTCATCCAGGGTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTTTCCCAGGTTCAAGTGACTCTTCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCAAAGTCAGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTAATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGCCCAGCTGGGGCTGTATATTTTAAGAAGAGGCTACCTGGAAGGTTCATGTTTAAACTAGCAGCAGGGACAGGCAGTTGCTCTGTGCTTAAATTGTGTAAAGTACCTCCCAGACTGCTGGGATTGTTCTGAGGAAGTAGTGCAGAGATGGTGTGTATATTGAGGAAAGGCAGGAATGAAGATGCTTCTTTCTCTGTGACCGATTGACAACCTGGACTCCCCTAAATGATGTTATAGAGAGTTACAATTACTAATTAACTCTTAGAGCCCTCTTGAATTATAAGTGCACAATATTAGCTATGGTTAGGTATGCATGGATTTTACATGAATTAATTAATTAATTAATGAACTGAAAGAGAAGAGATGGGAGCTCTGGCACATGGAGAATAATTATTTCCAGTATTGTGACAGGGTATTTAAAATTCTGAAGATTGGTTCTTTGGCTCAGCTACCATGGCCTCAAAGTTCTTTCCTTTGTGGCTAAATCTCTGGAATGAAACATTACCATCTGCCAAATTTTCCAAACTGTCACAGTAACAACCATCAAATTTTAGCAGATCTACTCCCCAGTCAGCAAAGGTCTGGGCATCAATGTCGTAGTATCCAAAACTCCCAGGGAAGCCTGCGCAGGTTTTATTTCCAACATCTGCATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGTCTGTCCTAGCAAGACCTCTTAGCAAGAATCCTGCTAAGTCAATACTGCCACCATTGATATCTGATCAATTTCCCTCATCCCCCACCCTTCTTGTTTAAGTACATGAAGCTTTAGCAAGAAGCTCCCTACCCTTGATGTCTTCTTAAATATTCCATCCACTGACCCCCTCAATCTGCTCATTGGCTATAAATCTCCACCTGTCTTTGTTGTATTTGGAATTGAACTTGGCTCTTTCCTCTACTGTGGTAGTACTGAATAAAATCTGTCTTCATCGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATTACAAGGTCAGGAGTTCGAGACCAGCCTGGCGAATATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGTGGAGGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCAAAAAAAAAAATCTGTCTTCATCATCTTTAACTAGTGTTGGACTCCATTTCTCTTCAATGATCTCCAGAATATTTTCCTTCTATCTTCTAAAATTCTAGTTTATAGTACCATTGCAATAGCTTCCTAAAGGTTATATGGAAATACATGCACACATATGTCAAGAACCAAGTTCCTTTTTCCTCCTAGAGAGTTCAGTGGTTTTAGCAAAAGGAGAACTCCAAGATGGGCCTCAAGAGCTATTACAAAACATTTGTAGGCTAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGCGGGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCCCTCCAGCCTGGGAGACAGAATGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATTGTCTGCTGATGGAATGCAAAGTCCACCTGATAAGCCTTACAATTCAATGTTCAGATAACAGCCAGCTATTCTACTTTCTAAGTGTCATGAGGGCTGTTTCTTTTTTTCCTTGTTTTTTTTTTTGAGATGGAGTTTCTCTTTTGTTGCCCAGGCTAGAGTGCAATGGCGTGATCTCAGCTCACTGAAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCGTTCACCACCATGCCCAGCTAATTTTTTGTACTTTTAATAGAGTTGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCATGAGGGCTGTTTCTAAACAAGCTTCTGTACAGAAGTGCTTACAGTCCTCTGAATGAACAAGAACATTATCTATAAACTCACATAATTAGCTAGCTGGCGAATCCCATGAGGAAAGCGCTGAGGGTCTGCCTGAAGTCTGCCTTCTGAATCTCTTTGGGGAGCCATCCAACAGTCATCAATGCAGAGGTACTCATAACCTGCATCCTTCCAGCCTTCTGAGACCATGAGCTCTGCCATCTCCATGAAGAGCTTCTCACTGAAAGAGAAATTCCAATAATCATTACAATTCATTAAATGAACACTTAGGTACCTCCCATTTATTAGGCACCTTGGGATTTCACAATTTTTTCCAACCCAGTAATAGTGTGGTAGTAATCACAAGCAATGTAAGGTAAAATGAATTGTTTTTCCAGATTTTCTTTTGTCTCTCTTATCCCGTTAATATTCCCGCCCTAAAAACCCCAAACAAAATAGGAATGAGAAATATATGATGAAATTGAAAAGAGTATTAGATCTAAGAAGACAGTTCAGTAAAGTCAGAAACTACAAAGTTAACATAATCAACAGATATCAACAATAATCCTATTTGGAGAAAAAGATCCCATTCACAAGAACAACTGAACAACCTAAAATGCCTAGAGATAAATTTAAGATACGTGCAAGGCCCATATGTTAAAACTATGATGCTCCTAAATGATTTGAATAAATGGAGAAATATTATTTTGCTCTTGGATAAGCATACTCAATATTAAAAATAAGTTAATTTTCCCTGCAATCCTTTGTATATTTAACAAAATCCTTAACAAAGCCCAAGAGTACTTAGGTTTCCTTTTTATCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTCTTCTACCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGCCATCGCATCCGGCTAATTTTTGTATCTTTAGTAGAGACAGGGTTTTGCATTTTGGCTAGGCTAGTCTTGAACTCCTGGCCTCAAGTGATCCACCTGCCTCAGACTCCCAAAATGCTGGGATTACAGGCGTGGGCCACCTGCCCAGCTTCCAAAAGGGCTTTTTAAGGAACTTGGCACAACATTACAAAAAGTTCACCTAAAAGATTACATACATGTACATTCATTAAAAGATGAAGGCTGGGCGTGGTGGCTCACGCCTGTAATAACAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGCTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATAGCTAGGCGTGGTGGCGCATGCCTGTAATTCCAGCTACTCGCGAGGATGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAACCGAGATCGTGACATTGTACTCCAGCCTGGGCAACAAGAGCGAAACTCCAGCTCAAAAAAAAAAAAAAAAAGAAAAAAAAGATAAAGGAAGCTAGTGTGGAACTATTAGCATTAGAATAAGAATACACAGATTAATGGAATTAAACAAAGTTTCGAAAGAGGTCCTTCCAGCCATCTGATACCATGGGACTTATTATTTATTAAATGTGGCATTTCTGATAGAAGAACAAAGTTCAGATGGACTAAAGATTTAAATATTTTAAAAATCCACAAAAATACTAGTAAGAAACGTATATACTGTATTATCTTCAGGTAGGAAAGGACTTTCTCAGCATGACCCCAAAGTCAGAAATCAGAAAGGAAAAACTGATGTGTTTGATTACATAAATATCAAAACCAACACATAGGAAGAACCACTGTATTTGCAAGGTATGATAGACTAAAAAAGAAAAAAGAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCTTGGGCAACATGGTGAAACCCGTCTCTACTGAAAATACAAAAATTAGCTGGCCGTGGTGGTGTGCCTGTAATCCCAGCTACTCAGGAGACTACGACAGGAGAACTGCTTAAACCCGGGAGGTGGAGTTTGCACTGAGCAGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCCTCTCAAAAAAAAAAGTAAGGCTGGGCACGGTGGCTCACACCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGATTGAGACCACCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAAAAAAAAAAAAAAAAAAAAGAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGTAATTTACCCAATGTCACAGGGCTAAGTAACAATGAGGCAGAATTTGAGCCCAGACTGGGTGCCAGGGTCTTGCCATTAGCCAAACATGACATAAACATGATCCATTTTTTATGGAAAATAATGAAATAAAGAAATCTATGTTTTCATTTATATAGAAAACAATTGTAAGGTTGTATATTAACATTTAAACCATGATTATTTCTGGGTGGTGGAACGGTGGGGGGAAATCTTTATTTTCATTTTGCTCTTCTT	A101406490G	GLA	NM_000169.3(GLA):c.194+1222_998dup	coding	Pathogenic
X	101398399	AG	A	G101398403T	GLA	NM_000169.3(GLA):c.969del:p.Leu324fs	coding	Pathogenic
X	101398422	A	ACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTCGT	G101398469T	GLA	NM_000169.3(GLA):c.946_947insACGACACATCAGCCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACG:p.Val316fs	coding	Pathogenic
X	101398505	AG	A	G101398506C	GLA	NM_000169.3(GLA):c.863del:p.Ala288fs	coding	Pathogenic/Likely_pathogenic
X	101398534	GA	G	A101398535T	GLA	NM_000169.3(GLA):c.834del:p.Gln279fs	coding	Pathogenic
X	101398543	TGA	T	A101398545G	GLA	NM_000169.3(GLA):c.824_825del:p.Leu275fs	coding	Pathogenic/Likely_pathogenic
X	101398803	AC	A	C101398808T	GLA	NM_000169.3(GLA):c.782del:p.Gly261fs	coding	Pathogenic
X	101398863	AC	A	C101398864T	GLA	NM_000169.3(GLA):c.722del:p.Ser241fs	coding	Pathogenic
X	101398939	T	TA	T101398942A	GLA	NM_000169.3(GLA):c.646dup:p.Tyr216fs	coding	Pathogenic
X	101399141	CTTAAAG	C	A101399146T	GLA	NM_000169.3(GLA):c.640-201_640-196del	noncoding	Benign
X	101399555	CTG	C	G101399557C	GLA	NM_000169.3(GLA):c.640-611_640-610del	noncoding	Benign
X	101400685	TAA	T	A101400687G	GLA	NM_000169.3(GLA):c.618_619del:p.Met208fs	coding	Pathogenic
X	101400744	CAT	C	A101400745G	GLA	NM_000169.3(GLA):c.559_560del:p.Met187fs	coding	Pathogenic
X	101400756	AC	A	C101400758T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+5301del	coding	Pathogenic
X	101401718	AT	A	T101401719G	GLA	NM_000169.3(GLA):c.460del:p.Ile154fs	coding	Pathogenic
X	101401741	AG	A	G101401744A	GLA	NM_000169.3(GLA):c.437del:p.Pro146fs	coding	Pathogenic
X	101403825	GGCGAATCCCATGAGGAAA	G	A101403829C	GLA	NM_000169.3(GLA):c.337_354del:p.Phe113_Arg118del	coding	Pathogenic
X	101407784	AGGCG	A	G101407785T	GLA	NM_000169.3(GLA):c.116_119del:p.Thr39fs	coding	Pathogenic
X	101407798	ATCCAT	A	C101407800G	GLA	NM_000169.3(GLA):c.101_105del:p.Asn34fs	coding	Pathogenic
X	101407858	GC	G	C101407859G	GLA	NM_000169.3(GLA):c.45del:p.Leu16fs	coding	Pathogenic
X	101407885	CT	C	T101407886G	GLA	NM_000169.3(GLA):c.18del:p.Glu7fs	coding	Pathogenic
X	101407901	CAT	C	A101407902T	GLA	NM_000169.3(GLA):c.1_2del:p.Met1fs	coding	Pathogenic
X	101838149	T	TG	C101838151G	NXF5	Single_allele	noncoding	Benign
X	103776772	A	AG	A103776776G	PLP1	NM_001128834.3(PLP1):c.-143-78dup	noncoding	Benign
X	103785602	A	AGATGTCTG	T103785612A	PLP1	NM_000533.5(PLP1):c.27_34dup:p.Val12fs	coding	Pathogenic
X	103786626	CA	C	A103786627G	PLP1;RAB9B	NM_000533.5(PLP1):c.354del:p.Gly120fs	coding	Pathogenic
X	103786684	GGT	G	G103786689C	PLP1	NM_000533.5(PLP1):c.416_417del:p.Cys139fs	coding	Pathogenic
X	103786698	TG	T	G103786701A	PLP1	NM_000533.5(PLP1):c.428del:p.Gly143fs	coding	Pathogenic
X	103786751	CAATAACAAGGGGTGGGGGA	C	T103786754A	PLP1	NM_000533.5(PLP1):c.453+28_453+46del	noncoding	Pathogenic
X	106035202	AAG	A	A106035205T	SERPINA7	NM_000354.6(SERPINA7):c.804_805del:p.Phe269fs	coding	Pathogenic
X	106818945	GT	G	T106818961A	TBC1D8B	NM_017752.3(TBC1D8B):c.241+188del	noncoding	Benign
X	106927928	G	GT	C106927939T	CLDN2	NM_020384.4(CLDN2):c.-178-113dup	noncoding	Benign
X	106927946	CAT	C	A106927947G	CLDN2	NM_020384.4(CLDN2):c.-178-104_-178-103del	noncoding	Benign
X	106928040	A	AT	A106928049T	CLDN2	NM_020384.4(CLDN2):c.-178-3dup	noncoding	Benign
X	107218955	TAGAGAAATCCC	T	A107218960T	DNAAF6	NM_173494.2(DNAAF6):c.322_332del:p.Glu108Valfs	coding	Pathogenic
X	107243056	T	TG	T107243066G	DNAAF6	NM_173494.2(DNAAF6):c.516-104dup	noncoding	Benign
X	107639276	C	CT	C107639280T	PRPS1	NM_002764.4(PRPS1):c.123-16dup	noncoding	Benign/Likely_benign
X	107645265	CT	C	T107645267G	PRPS1	NM_002764.4(PRPS1):c.621del:p.Val208fs	coding	Pathogenic
X	107647467	TTATAA	T	A107647471T	PRPS1	NM_002764.4(PRPS1):c.705-135_705-131del	noncoding	Benign
X	108172448	GA	G	A108172458T	COL4A6	NM_033641.4(COL4A6):c.3202+20del	noncoding	Benign
X	108180444	TACAC	T	C108180468T	COL4A6	NM_033641.4(COL4A6):c.2131+45GT[11]	noncoding	Benign
X	108180444	TAC	T	C108180470T	COL4A6	NM_033641.4(COL4A6):c.2131+45GT[12]	noncoding	Benign
X	108183752	C	CCTT	C108183755T	COL4A6	NM_033641.4(COL4A6):c.1952-2785_1952-2784insAGA	coding	Benign
X	108190504	T	TA	G108190513A	COL4A6	NM_033641.4(COL4A6):c.1322-16dup	noncoding	Benign
X	108192462	G	GT	C108192470T	COL4A6	NM_033641.4(COL4A6):c.1180+4dup	noncoding	Benign
X	108204445	ACAAT	A	A108204448C	COL4A6	NM_033641.4(COL4A6):c.688-37_688-34del	noncoding	Benign
X	108219860	CCCATATTGTATT	C	A108219863C	COL4A6	NM_033641.4(COL4A6):c.280-130_280-119del	noncoding	Benign
X	108440182	TTGGGGGCA	T	T108440183G	COL4A5	NM_033380.3(COL4A5):c.58_65del:p.Trp20fs	coding	Pathogenic
X	108440190	AGCCTGCAGAGGCTGCG	A	C108440192T	COL4A5	NM_033380.3(COL4A5):c.67_81+1del	coding	Pathogenic
X	108440271	T	TGG	T108440282G	COL4A5	NM_033380.3(COL4A5):c.81+74_81+75dup	noncoding	Benign
X	108440271	T	TG	T108440282G	COL4A5	NM_033380.3(COL4A5):c.81+75dup	noncoding	Benign
X	108559072	AG	A	G108559075T	COL4A5	NM_033380.3(COL4A5):c.153del:p.Pro53fs	coding	Pathogenic
X	108568780	GC	G	C108568784A	COL4A5	NM_033380.3(COL4A5):c.347del:p.Pro116fs	coding	Pathogenic
X	108570424	CAGTGTGCTAT	C	G108570426T	COL4A5	NM_033380.3(COL4A5):c.385-987_385-978del	noncoding	Benign
X	108571459	GTCCT	G	T108571460C	COL4A5	NM_033380.3(COL4A5):c.432_435del:p.Pro145fs	coding	Pathogenic
X	108576141	CTAAG	C	G108576145T	COL4A5	NM_033380.3(COL4A5):c.609+173_609+176del	noncoding	Benign
X	108578360	G	CT	G108578360C	COL4A5	NM_033380.3(COL4A5):c.757delinsCT:p.Val253fs	coding	Pathogenic
X	108580690	A	AG	T108580693G	COL4A5	NM_033380.3(COL4A5):c.845dup:p.Gly283fs	coding	Pathogenic
X	108580693	TG	T	G108580695T	COL4A5	NM_033380.3(COL4A5):c.848del:p.Gly283fs	coding	Pathogenic
X	108580703	GGT	G	T108580705A	COL4A5	NM_033380.3(COL4A5):c.858_859del:p.Lys288fs	coding	Pathogenic
X	108580818	T	TCTTA	C108580822A	COL4A5	NM_033380.3(COL4A5):c.891+83_891+84insACTT	noncoding	Benign
X	108580964	AT	A	T108580967C	COL4A5	NM_033380.3(COL4A5):c.892-16del	noncoding	Benign
X	108581004	GA	G	A108581008T	COL4A5	NM_033380.3(COL4A5):c.917del:p.Asn306fs	coding	Pathogenic
X	108582695	CT	C	T108582714C	COL4A5	NM_033380.3(COL4A5):c.937-170del	noncoding	Benign
X	108582695	CTT	C	T108582713C	COL4A5	NM_033380.3(COL4A5):c.937-171_937-170del	noncoding	Benign
X	108584530	G	GT	A108584543T	COL4A5	NM_033380.3(COL4A5):c.1032+17dup	noncoding	Benign
X	108586612	A	AAGAAATTCCC	G108586615A	COL4A5	NM_033380.3(COL4A5):c.1033-1_1033insAAATTCCCAG	noncoding	Pathogenic
X	108586718	AG	A	G108586721T	COL4A5	NM_033380.3(COL4A5):c.1139del:p.Gly380fs	coding	Pathogenic
X	108591595	C	TT	C108591595T	COL4A5	NM_033380.3(COL4A5):c.1374delinsTT:p.Pro459fs	coding	Pathogenic
X	108591637	AGT	A	T108591639A	COL4A5	NM_033380.3(COL4A5):c.1418_1419del:p.Val473fs	coding	Pathogenic
X	108597023	AGG	A	G108597026A	COL4A5	NM_033380.3(COL4A5):c.1545_1546del:p.Glu516fs	coding	Pathogenic
X	108597430	TG	T	G108597432T	COL4A5	NM_033380.3(COL4A5):c.1643del:p.Gly548fs	coding	Pathogenic
X	108597549	CTGGCCCGAAAGGAGAGCCTG	C	G108597552A	COL4A5	NM_033380.3(COL4A5):c.1763_1779+3del	coding	Pathogenic
X	108598844	GA	G	A108598847T	COL4A5	NM_033380.3(COL4A5):c.1925del:p.Asn642fs	coding	Pathogenic
X	108599035	GT	G	T108599038C	COL4A5	NM_033380.3(COL4A5):c.1948+168del	noncoding	Benign
X	108601458	G	GGCAGA	A108601465C	COL4A5	NM_033380.3(COL4A5):c.2016_2020dup:p.Asp674fs	coding	Pathogenic
X	108601481	TC	T	C108601483A	COL4A5	NM_033380.3(COL4A5):c.2039del:p.Pro680fs	coding	Pathogenic
X	108601945	C	CCTGG	A108601946C	COL4A5	NM_033380.3(COL4A5):c.2102_2103insCTGG:p.Gly702fs	coding	Pathogenic
X	108601946	A	AATTG	G108601947A	COL4A5	NM_033380.3(COL4A5):c.2103_2104insATTG:p.Gly702fs	coding	Pathogenic
X	108603016	TG	T	G108603018T	COL4A5	NM_033380.3(COL4A5):c.2201del:p.Gly734fs	coding	Pathogenic
X	108603257	CAAA	C	A108603275C	COL4A5	NM_033380.3(COL4A5):c.2244+214_2244+216del	noncoding	Benign
X	108606499	G	GT	A108606512T	COL4A5	NM_033380.3(COL4A5):c.2245-231dup	noncoding	Benign
X	108606758	CA	C	A108606759T	COL4A5	NM_033380.3(COL4A5):c.2262del:p.Leu755fs	coding	Pathogenic
X	108606789	TC	T	C108606791A	COL4A5	NM_033380.3(COL4A5):c.2294del:p.Pro765fs	coding	Pathogenic/Likely_pathogenic
X	108606845	C	CT	G108606846T	COL4A5	NM_033380.3(COL4A5):c.2348_2349insT:p.Pro785fs	coding	Pathogenic
X	108614967	A	ATAGG	G108614973A	COL4A5	NM_033380.3(COL4A5):c.2454_2457dup:p.Val820fs	coding	Pathogenic
X	108620400	G	GA	G108620405A	COL4A5	NM_033380.3(COL4A5):c.2655dup:p.Ala886fs	coding	Pathogenic
X	108622691	AG	A	G108622694T	COL4A5	NM_033380.3(COL4A5):c.2786del:p.Gly929fs	coding	Pathogenic
X	108622763	CT	C	T108622764G	COL4A5	NM_033380.3(COL4A5):c.2856del:p.Gly953fs	coding	Pathogenic
X	108622805	AG	A	G108622810A	COL4A5	NM_033380.3(COL4A5):c.2902del:p.Glu968fs	coding	Pathogenic
X	108624243	TG	T	G108624245A	COL4A5	NM_033380.3(COL4A5):c.2927del:p.Gly976fs	coding	Pathogenic
X	108624276	GCCTGGAGACCCAGGGCAA	G	G108624283C	COL4A5	NM_033380.3(COL4A5):c.2965_2982del:p.Asp989_Gly994del	coding	Pathogenic/Likely_pathogenic
X	108624559	CT	C	T108624564G	COL4A5	NM_033380.3(COL4A5):c.3016+230del	noncoding	Benign
X	108625738	C	CA	G108625740A	COL4A5	NM_033380.3(COL4A5):c.3051dup:p.Gly1018fs	coding	Pathogenic
X	108625759	GA	G	A108625760C	COL4A5	NM_033380.3(COL4A5):c.3072del:p.Gly1027fs	coding	Pathogenic
X	108626222	TG	A	T108626222A	COL4A5	NM_033380.3(COL4A5):c.3119_3120delinsA:p.Val1040fs	coding	Pathogenic
X	108626331	AG	A	G108626333T	COL4A5	NM_033380.3(COL4A5):c.3230del:p.Gly1077fs	coding	Pathogenic
X	108667158	A	AC	T108667164C	COL4A5	NM_033380.3(COL4A5):c.3584dup:p.Gly1196fs	coding	Pathogenic
X	108668419	TCCCCCAGGCCCTCC	T	C108668420T	COL4A5	NM_033380.3(COL4A5):c.3706_3719del:p.Pro1236fs	coding	Pathogenic
X	108674777	C	CT	A108674796T	COL4A5	NM_033380.3(COL4A5):c.3808+42dup	noncoding	Benign
X	108674777	CT	C	T108674795A	COL4A5	NM_033380.3(COL4A5):c.3808+42del	noncoding	Benign
X	108674777	CTT	C	T108674794A	COL4A5	NM_033380.3(COL4A5):c.3808+41_3808+42del	noncoding	Benign
X	108677610	GA	G	A108677611T	COL4A5	NM_033380.3(COL4A5):c.3920del:p.Asp1307fs	coding	Pathogenic
X	108677621	A	AC	A108677624C	COL4A5	NM_033380.3(COL4A5):c.3932dup:p.Gly1312fs	coding	Pathogenic
X	108677621	AC	A	C108677623A	COL4A5	NM_033380.3(COL4A5):c.3932del:p.Pro1311fs	coding	Pathogenic
X	108680874	CT	C	T108680876C	COL4A5	NM_033380.3(COL4A5):c.4016-9del	noncoding	Benign
X	108680905	GTACC	G	A108680907G	COL4A5	NM_033380.3(COL4A5):c.4038_4041del:p.Pro1347fs	coding	Pathogenic
X	108680921	GC	G	C108680924T	COL4A5	NM_033380.3(COL4A5):c.4055del:p.Pro1352fs	coding	Pathogenic
X	108687501	T	TCC	T108687507C	COL4A5	NM_033380.3(COL4A5):c.4339_4340dup:p.Gly1448fs	coding	Pathogenic
X	108687537	T	TC	T108687543C	COL4A5	NM_033380.3(COL4A5):c.4376dup:p.Gly1460fs	coding	Pathogenic
X	108687596	CG	C	G108687598A	COL4A5	NM_033380.3(COL4A5):c.4432del:p.Asp1478fs	coding	Pathogenic
X	108687606	AC	A	C108687607A	COL4A5	NM_033380.3(COL4A5):c.4441del:p.Gln1481fs	coding	Pathogenic
X	108692792	A	AT	G108692794T	COL4A5	NM_033380.3(COL4A5):c.4574dup:p.Met1525fs	coding	Pathogenic
X	108692846	T	TA	C108692848A	COL4A5	NM_033380.3(COL4A5):c.4628dup:p.Tyr1543Ter	coding	Pathogenic
X	108692873	C	CA	C108692874A	COL4A5	NM_033380.3(COL4A5):c.4654_4655insA:p.Pro1552fs	coding	Pathogenic
X	108695107	C	CT	G108695116T	COL4A5	NM_033380.3(COL4A5):c.4822-152dup	noncoding	Benign
X	108695369	GGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC	G	G108695370A	COL4A5	NM_033380.3(COL4A5):c.4925_4986del:p.Gly1642fs	coding	Pathogenic
X	108695423	G	GAAAA	T108695424A	COL4A5	NM_033380.3(COL4A5):c.4978_4979insAAAA:p.Val1660fs	coding	Pathogenic
X	109678268	AG	A	G109678269T	ACSL4	NM_001318510.2(ACSL4):c.802del:p.Leu268fs	coding	Pathogenic
X	109681151	G	GA	C109681161A	ACSL4	NM_001318510.2(ACSL4):c.517-24dup	noncoding	Benign
X	110719892	T	TG	C110719897G	CHRDL1	NM_001143981.2(CHRDL1):c.483dup:p.Lys162fs	coding	Pathogenic
X	111192341	A	AT	A111192343T	PAK3	NM_002578.5(PAK3):c.880-164dup	noncoding	Benign
X	111251300	GA	G	A111251314G	CAPN6	NM_014289.4(CAPN6):c.894-15del	noncoding	Benign
X	111251300	G	GA	G111251315A	CAPN6	NM_014289.4(CAPN6):c.894-28dup	noncoding	Benign
X	111333077	TG	T	G111333078A	DCX	NM_001195553.2(DCX):c.781del:p.Gln261fs	coding	Pathogenic
X	111401066	AC	A	C111401067T	DCX	NM_001195553.2(DCX):c.628del:p.Val210fs	coding	Pathogenic
X	111401212	G	GGACT	G111401218A	DCX	NM_001195553.2(DCX):c.479_482dup:p.Leu162fs	coding	Pathogenic
X	111401216	T	TG	C111401223G	DCX	NM_001195553.2(DCX):c.478dup:p.Gln160fs	coding	Pathogenic
X	111401280	T	TC	G111401281C	DCX	NM_001195553.2(DCX):c.414_415insG:p.Thr139fs	coding	Pathogenic
X	111410158	C	CA	G111410162A	DCX	NM_001195553.2(DCX):c.240dup:p.Asp81Ter	coding	Pathogenic
X	111410360	CTT	C	T111410361A	DCX	NM_001195553.2(DCX):c.37_38del:p.Lys13fs	coding	Pathogenic
X	111410725	TTGAAATA	T	T111410726G	DCX	NM_001195553.2(DCX):c.-22-312_-22-306del	noncoding	Benign
X	111680917	TG	T	G111680918T	ALG13	Single_allele	noncoding	Benign
X	111681980	A	ATACTT	G111681983C	ALG13	NM_001099922.3(ALG13):c.82-150_82-149insCTTTA	noncoding	Benign
X	111685341	G	GT	G111685343T	ALG13	NM_001099922.3(ALG13):c.383+239dup	noncoding	Benign
X	111708952	CTCT	C	C111708957T	ALG13	NM_001099922.3(ALG13):c.751-8_751-6del	noncoding	Benign/Likely_benign
X	111718279	TA	T	A111718282G	ALG13	NM_001099922.3(ALG13):c.1250+8del	noncoding	Benign
X	111728170	GTC	G	C111728176G	ALG13	NM_001099922.3(ALG13):c.2248-14TC[2]	noncoding	Benign
X	111730589	TTAA	T	A111730595G	ALG13	NM_001099922.3(ALG13):c.2457+15_2457+17del	noncoding	Benign/Likely_benign
X	111744768	A	ACCT	G111744808C	ALG13	NM_001099922.3(ALG13):c.2797CCT[14]:p.Pro945dup	coding	Benign
X	111744768	ACCT	A	C111744805G	ALG13	NM_001099922.3(ALG13):c.2797CCT[12]:p.Pro945del	coding	Benign
X	115633799	TTTTTTATTTTTAG	T	T115633810C	PLS3	NM_005032.7(PLS3):c.501-190_501-178del	noncoding	Benign
X	115634914	GC	G	C115634916A	PLS3	NM_005032.7(PLS3):c.618del:p.Ile207fs	coding	Pathogenic
X	115634968	CCT	C	T115634970A	PLS3	NM_005032.7(PLS3):c.672_673del:p.His225fs	coding	Pathogenic
X	115636815	AT	A	T115636828C	PLS3	NM_005032.7(PLS3):c.749-8del	noncoding	Benign/Likely_benign
X	115643391	GC	G	C115643392T	PLS3	NM_005032.7(PLS3):c.1067del:p.Ala356fs	coding	Pathogenic
X	115643513	C	CT	A115643515T	PLS3	NM_005032.7(PLS3):c.1183+6dup	noncoding	Benign
X	115645757	AC	A	C115645763G	PLS3	NM_005032.7(PLS3):c.1263-309del	noncoding	Benign
X	115646098	T	TA	C115646100A	PLS3	NM_005032.7(PLS3):c.1290dup:p.Gln431fs	coding	Pathogenic
X	115646180	GAA	G	A115646184G	PLS3	NM_005032.7(PLS3):c.1375_1376del:p.Lys459fs	coding	Pathogenic
X	118396949	GT	G	T118396961A	WDR44	NM_019045.5(WDR44):c.1054-9del	noncoding	Benign
X	119837615	CA	C	A119837635G	UPF3B	NM_080632.3(UPF3B):c.1302+141del	noncoding	Benign
X	119837615	C	CA	G119837636A	UPF3B	NM_080632.3(UPF3B):c.1302+122dup	noncoding	Benign
X	119837891	CTT	C	T119837894C	UPF3B	NM_080632.3(UPF3B):c.1166_1167del:p.Lys389fs	coding	Pathogenic
X	119841195	CTCTT	C	C119841197G	UPF3B	NM_080632.3(UPF3B):c.684_687del:p.Arg229fs	coding	Pathogenic
X	119841197	CTT	C	T119841199G	UPF3B	NM_080632.3(UPF3B):c.684_685del:p.Glu230fs	coding	Pathogenic
X	119851325	ATAG	A	T119851329G	UPF3B	NM_080632.3(UPF3B):c.370+167_370+169del	noncoding	Benign
X	119851748	C	CT	A119851765T	UPF3B	NM_080632.3(UPF3B):c.263+18dup	noncoding	Benign
X	119851748	C	CTT	A119851765T	UPF3B	NM_080632.3(UPF3B):c.263+17_263+18dup	noncoding	Benign
X	119851748	C	CTTTT	A119851765T	UPF3B	NM_080632.3(UPF3B):c.263+15_263+18dup	noncoding	Benign
X	119851748	CT	C	T119851764A	UPF3B	NM_080632.3(UPF3B):c.263+18del	noncoding	Benign
X	119852055	T	TA	C119852063A	UPF3B	NM_080632.3(UPF3B):c.157-189dup	noncoding	Benign
X	119873060	T	TA	G119873070A	NDUFA1	NM_004541.4(NDUFA1):c.103-235dup	noncoding	Benign
X	119873168	CT	C	T119873171G	NDUFA1	NM_004541.4(NDUFA1):c.103-133del	noncoding	Benign
X	119873546	CT	C	T119873558A	NDUFA1	NM_004541.4(NDUFA1):c.192+165del	noncoding	Benign
X	119876205	C	CA	G119876221A	NDUFA1	NM_004541.4(NDUFA1):c.193-294dup	noncoding	Benign
X	119936364	CGAT	C	G119936368T	NKAP	NM_024528.4(NKAP):c.600ATC[1]:p.Ser202del	coding	Benign
X	120253979	T	TTGA	G120253980T	ZBTB33	NM_001184742.2(ZBTB33):c.564_565insTGA:p.Asp189Ter	coding	Benign
X	120428291	G	GA	C120428300A	LAMP2	NM_002294.3(LAMP2):c.*3031dup	noncoding	Benign/Likely_benign
X	120429161	C	CATAT	C120429177T	LAMP2	NM_002294.3(LAMP2):c.*2148AT[9]	coding	Benign/Likely_benign
X	120429288	AGATTTTGAGTTCTGGATTCAGACAGAACTGTGTTTAAATCTT	A	T120429291C	LAMP2	NM_002294.3(LAMP2):c.*1993_*2034del	coding	Benign
X	120439496	ATTTG	A	G120439500A	LAMP2	NM_002294.3(LAMP2):c.1093+2230_1093+2233del	noncoding	Benign
X	120441740	CT	C	T120441743C	LAMP2	NM_002294.3(LAMP2):c.1082del:p.Lys361fs	coding	Pathogenic
X	120441752	CACATTGAAAGGCTGAACCCTTAGATCAAAGGTATTTATCTGAAATGCTCCAGACACTGAAACAGTCTGCTCTTTGTTGCACATATAAGAACTTCCCAGGGGGGCATCCCAGTAGCTGAGATTGTTATTTGCAATGCTGAAAACTTCAAAGAAAAGAAACAGGTTAGTAACTTCTTATCCTATCAACATCAAAAATGGGAAAGTTGGCCAGGCACAGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACGTGAGCCCAGGAGATCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAAAA	C	C120441754A	LAMP2	NM_002294.3(LAMP2):c.929-197_1070del	coding	Pathogenic
X	120441781	AG	A	G120441783T	LAMP2	NM_002294.3(LAMP2):c.1041del:p.Phe348fs	coding	Pathogenic
X	120441797	TG	T	G120441798C	LAMP2	NM_002294.3(LAMP2):c.1025del:p.Ala342fs	coding	Pathogenic
X	120441849	AG	A	G120441855C	LAMP2	NM_002294.3(LAMP2):c.973del:p.Leu325fs	coding	Pathogenic
X	120441849	A	TT	A120441849T	LAMP2	NM_002294.3(LAMP2):c.974delinsAA:p.Leu325fs	coding	Pathogenic
X	120441867	CT	C	T120441868G	LAMP2	NM_002294.3(LAMP2):c.955del:p.Ser319fs	coding	Pathogenic
X	120441882	GC	G	C120441883A	LAMP2	NM_002294.3(LAMP2):c.940del:p.Ala314fs	coding	Pathogenic
X	120441882	G	GC	A120441884C	LAMP2	NM_002294.3(LAMP2):c.940dup:p.Ala314fs	coding	Pathogenic
X	120441902	GA	G	A120441906G	LAMP2	NM_002294.3(LAMP2):c.929-9del	noncoding	Benign
X	120446303	AC	A	C120446305A	LAMP2	NM_002294.3(LAMP2):c.864+1del	noncoding	Pathogenic
X	120446329	CT	C	T120446331A	LAMP2	NM_002294.3(LAMP2):c.839del:p.Lys280fs	coding	Pathogenic
X	120446372	C	CG	C120446375G	LAMP2	NM_002294.3(LAMP2):c.796dup:p.Arg266fs	coding	Pathogenic
X	120446421	AAGCAACCTTC	A	C120446424G	LAMP2	NM_002294.3(LAMP2):c.742-4_747del	coding	Pathogenic
X	120446617	T	TA	C120446629A	LAMP2	NM_002294.3(LAMP2):c.742-201dup	noncoding	Benign
X	120447865	CA	C	A120447866G	LAMP2	NM_002294.3(LAMP2):c.716del:p.Leu239fs	coding	Pathogenic
X	120447889	AG	A	G120447890T	LAMP2	NM_002294.3(LAMP2):c.692del:p.Thr231fs	coding	Pathogenic
X	120447913	A	AT	A120447915T	LAMP2	NM_002294.3(LAMP2):c.668dup:p.Tyr223Ter	coding	Pathogenic
X	120447922	A	AG	C120447924G	LAMP2	NM_002294.3(LAMP2):c.659dup:p.Gly221fs	coding	Pathogenic/Likely_pathogenic
X	120447966	GCA	G	C120447969G	LAMP2	NM_002294.3(LAMP2):c.614_615del:p.Val205fs	coding	Pathogenic
X	120448008	CT	C	T120448011A	LAMP2	NM_002294.3(LAMP2):c.573del:p.Asp192fs	coding	Pathogenic
X	120449038	TC	T	C120449039A	LAMP2	NM_002294.3(LAMP2):c.487del:p.Asp163fs	coding	Pathogenic
X	120449072	TA	T	A120449077G	LAMP2	NM_002294.3(LAMP2):c.453del:p.Phe151fs	coding	Pathogenic
X	120449085	C	CAATGG	T120449094G	LAMP2	NM_002294.3(LAMP2):c.436_440dup:p.Leu147fs	coding	Pathogenic
X	120455357	CT	C	T120455360A	LAMP2	NM_002294.3(LAMP2):c.396del:p.Gly133fs	coding	Pathogenic
X	120455362	TC	T	C120455363T	LAMP2	NM_002294.3(LAMP2):c.391del:p.Asp131fs	coding	Pathogenic
X	120455378	ATGTTG	A	G120455383A	LAMP2	NM_002294.3(LAMP2):c.371_375del:p.Thr124fs	coding	Pathogenic
X	120455433	A	AGATG	C120455438G	LAMP2	NM_002294.3(LAMP2):c.317_320dup:p.Thr108fs	coding	Pathogenic
X	120455479	AACTGC	A	A120455485T	LAMP2	NM_002294.3(LAMP2):c.270_274del:p.Gln91fs	coding	Pathogenic
X	120455491	A	AT	G120455496T	LAMP2	NM_002294.3(LAMP2):c.262dup:p.Ile88fs	coding	Pathogenic
X	120455495	TGG	T	G120455497A	LAMP2	NM_002294.3(LAMP2):c.257_258del:p.Pro86fs	coding	Pathogenic
X	120455512	TC	T	C120455516A	LAMP2	NM_002294.3(LAMP2):c.241del:p.Asp81fs	coding	Pathogenic
X	120455530	TTA	T	A120455534G	LAMP2	NM_002294.3(LAMP2):c.222_223del:p.Tyr74_Asn75delinsTer	coding	Pathogenic
X	120455562	TAC	T	C120455564G	LAMP2	NM_002294.3(LAMP2):c.190_191del:p.Val64fs	coding	Pathogenic
X	120456652	TA	T	A120456654G	LAMP2	NM_002294.3(LAMP2):c.181del:p.Tyr61fs	coding	Pathogenic
X	120456654	AG	A	G120456655T	LAMP2	NM_002294.3(LAMP2):c.179del:p.Thr60fs	coding	Pathogenic
X	120456706	TA	T	A120456709G	LAMP2	NM_002294.3(LAMP2):c.127del:p.Tyr43fs	coding	Pathogenic
X	120456709	AG	A	G120456711C	LAMP2	NM_002294.3(LAMP2):c.124del:p.Leu42fs	coding	Pathogenic
X	120456729	ATC	A	C120456731G	LAMP2	NM_002294.3(LAMP2):c.103_104del:p.Asp35fs	coding	Pathogenic
X	120469140	CG	C	G120469142A	LAMP2	NM_002294.3(LAMP2):c.29del:p.Pro10fs	coding	Pathogenic
X	120469336	CG	C	G120469340C	LAMP2	NM_013995.2(LAMP2):c.-168del	noncoding	Benign
X	120529942	G	GT	G120529954T	CUL4B	NM_001079872.2(CUL4B):c.2592+149dup	noncoding	Benign
X	120535849	AACAC	A	C120535853G	CUL4B	NM_001079872.2(CUL4B):c.2137_2140del:p.Cys712_Val713insTer	coding	Pathogenic
X	120543041	GA	G	A120543052G	CUL4B	NM_001079872.2(CUL4B):c.1257-9del	noncoding	Benign
X	120543495	AACAC	A	A120543530C	CUL4B	NM_001079872.2(CUL4B):c.1256+194GT[17]	noncoding	Benign
X	120543495	AACACAC	A	A120543528C	CUL4B	NM_001079872.2(CUL4B):c.1256+194GT[16]	noncoding	Benign
X	120543495	AACACACAC	A	A120543526C	CUL4B	NM_001079872.2(CUL4B):c.1256+194GT[15]	noncoding	Benign
X	120543527	CA	C	A120543528C	CUL4B	NM_001079872.2(CUL4B):c.1256+199del	noncoding	Benign
X	120543700	CTA	C	A120543702T	CUL4B	NM_001079872.2(CUL4B):c.1256+25_1256+26del	noncoding	Benign
X	120547124	T	TA	G120547130A	CUL4B	NM_001079872.2(CUL4B):c.776+7dup	noncoding	Benign
X	123183968	CG	C	G123183981C	GRIA3	Single_allele	noncoding	Benign
X	123184094	TTCTC	T	C123184132A	GRIA3	Single_allele	noncoding	Benign
X	123184094	T	TTC	A123184136C	GRIA3	Single_allele	noncoding	Benign
X	123184094	T	TTCTC	A123184136C	GRIA3	Single_allele	noncoding	Benign
X	123184094	T	TTCTCTC	A123184136C	GRIA3	Single_allele	noncoding	Benign
X	123184094	T	TTCTCTCTC	A123184136C	GRIA3	Single_allele	noncoding	Benign
X	123184094	T	TTCTCTCTCTC	A123184136C	GRIA3	Single_allele	noncoding	Benign
X	123185508	AG	A	G123185517C	GRIA3	NM_007325.5(GRIA3):c.110-315del	noncoding	Benign
X	123253417	G	GC	T123253419C	GRIA3	NM_007325.5(GRIA3):c.384dup:p.Phe129fs	coding	Benign
X	123326369	GAA	G	A123326385G	GRIA3	NM_007325.5(GRIA3):c.696+172_696+173del	noncoding	Benign
X	123326369	GA	G	A123326386G	GRIA3	NM_007325.5(GRIA3):c.696+173del	noncoding	Benign
X	123403491	AT	A	T123403492C	GRIA3	NM_007325.5(GRIA3):c.1266del:p.Arg423fs	coding	Pathogenic
X	123404520	CA	C	A123404538G	GRIA3	NM_007325.5(GRIA3):c.1294-170del	noncoding	Benign
X	123404863	G	GGATC	C123404868G	GRIA3	NM_007325.5(GRIA3):c.1450_1453dup:p.Pro485fs	coding	Pathogenic
X	123404919	GT	G	T123404925C	GRIA3	NM_007325.5(GRIA3):c.1500+11del	noncoding	Benign
X	123417381	C	CT	C123417390T	GRIA3	NM_007325.5(GRIA3):c.1501-13dup	noncoding	Benign
X	123428101	GGG	TGT	G123428101T	GRIA3	NM_007325.5(GRIA3):c.2038_2040delinsTGT:p.Gly680Cys	coding	Pathogenic
X	123483111	CT	C	T123483126A	GRIA3	NM_007325.5(GRIA3):c.*2+80del	noncoding	Benign
X	123671771	T	TA	G123671782A	THOC2	NM_001081550.2(THOC2):c.769-20dup	noncoding	Benign/Likely_benign
X	123885720	GA	G	A123885722G	XIAP	NM_001167.4(XIAP):c.60del:p.Glu21fs	coding	Pathogenic
X	123886414	C	CA	T123886418A	XIAP	NM_001167.4(XIAP):c.755dup:p.Asn252fs	coding	Pathogenic
X	123888628	ATAAAG	A	A123888635G	XIAP	NM_001167.4(XIAP):c.894_898del:p.Lys299fs	coding	Pathogenic
X	123888659	GCTAA	G	A123888662G	XIAP	NM_001167.4(XIAP):c.921_924del:p.Thr308fs	coding	Pathogenic
X	123891271	A	AT	A123891273T	XIAP	NM_001167.4(XIAP):c.1012dup:p.Tyr338fs	coding	Pathogenic
X	123891325	CAT	C	T123891329A	XIAP	NM_001167.4(XIAP):c.1056+13_1056+14del	noncoding	Benign
X	124022370	CA	C	A124022386G	STAG2	NM_001042750.2(STAG2):c.-97-145del	noncoding	Benign
X	124030948	A	AT	A124030955T	STAG2	NM_001042750.2(STAG2):c.124-7dup	noncoding	Benign
X	124045272	ATATATGATGAG	A	A124045282G	STAG2	NM_001042750.2(STAG2):c.581_591del:p.Glu194fs	coding	Pathogenic
X	124048993	G	GT	A124049001T	STAG2	NM_001042750.2(STAG2):c.820-5dup	noncoding	Benign
X	124049092	G	GT	C124049100T	STAG2	NM_001042750.2(STAG2):c.893+21dup	noncoding	Benign
X	124051099	C	CT	A124051119T	STAG2	NM_001042750.2(STAG2):c.1018-3dup	noncoding	Benign
X	124051099	CT	C	T124051118A	STAG2	NM_001042750.2(STAG2):c.1018-3del	noncoding	Benign
X	124055996	G	GT	C124056007T	STAG2	NM_001042750.2(STAG2):c.1197-122dup	noncoding	Benign
X	124055996	G	GTT	C124056007T	STAG2	NM_001042750.2(STAG2):c.1197-123_1197-122dup	noncoding	Benign
X	124057971	AAGTGAGGTTAGTTG	A	G124057973T	STAG2	NM_001042750.2(STAG2):c.1412_1416+9del	coding	Pathogenic
X	124061743	C	CTT	A124061769T	STAG2	NM_001042750.2(STAG2):c.1535-4_1535-3dup	noncoding	Benign
X	124061743	CT	C	T124061768A	STAG2	NM_001042750.2(STAG2):c.1535-3del	noncoding	Benign/Likely_benign
X	124061743	CTTTTTTTTTT	C	T124061759A	STAG2	NM_001042750.2(STAG2):c.1535-12_1535-3del	noncoding	Benign
X	124061743	CTTTTTTTTTTT	C	T124061758A	STAG2	NM_001042750.2(STAG2):c.1535-13_1535-3del	noncoding	Benign
X	124063141	CT	C	T124063142A	STAG2	NM_001042750.2(STAG2):c.1758del:p.Asn587fs	coding	Pathogenic
X	124063222	TA	T	A124063230C	STAG2	NM_001042750.2(STAG2):c.1821+25del	noncoding	Benign
X	124063938	GCACTCTGTAA	G	C124063939T	STAG2	NM_001042750.2(STAG2):c.1913_1922del:p.Ala638fs	coding	Pathogenic
X	124066143	A	AT	A124066171T	STAG2	NM_001042750.2(STAG2):c.2097-5dup	noncoding	Benign
X	124066143	ATT	A	T124066169A	STAG2	NM_001042750.2(STAG2):c.2097-6_2097-5del	noncoding	Benign
X	124068468	C	CTATA	G124068472A	STAG2	NM_001042750.2(STAG2):c.2266-93_2266-92insATAT	noncoding	Benign
X	124071128	CT	C	T124071142A	STAG2	NM_001042750.2(STAG2):c.2359-7del	noncoding	Benign
X	124083206	T	TTG	A124083224G	STAG2	NM_001042750.2(STAG2):c.2925-214TG[9]	noncoding	Benign
X	124100555	C	CCT	A124100569T	STAG2	NM_001042750.2(STAG2):c.3784-18CT[7]	noncoding	Benign
X	124100555	CCT	C	T124100567A	STAG2	NM_001042750.2(STAG2):c.3784-18CT[5]	noncoding	Benign
X	124347054	TGG	T	G124347055T	SH2D1A	NM_002351.5(SH2D1A):c.137+276_137+277del	noncoding	Benign
X	124365767	CGGTTACATTTATACATACCGAGTGTCCCAGACAGAAACAGGTTCTTGGAGTGCTGAGGTATAGTTGTATTTATTTTTGCTTCTGGGGGTGTCAAGGAGGTATTTGAAATTTAGGCTGGTTTTATAAAAGAGCAAATTATACATTATTAAGTATTCATAA	C	A124365772T	SH2D1A	NM_002351.5(SH2D1A):c.149_201+106del	coding	Pathogenic
X	124366099	T	TAGAA	C124366102A	SH2D1A	NM_002351.5(SH2D1A):c.201+277_201+278insAAAG	noncoding	Benign
X	124370213	T	TA	T124370220A	SH2D1A	NM_002351.5(SH2D1A):c.245dup:p.Asn82fs	coding	Pathogenic
X	124481695	G	GTATA	T124481713A	TENM1	NM_014253.3(TENM1):c.3928+21TA[10]	noncoding	Benign
X	124481695	G	GTATATA	T124481713A	TENM1	NM_014253.3(TENM1):c.3928+21TA[11]	noncoding	Benign
X	124520791	TAAA	T	A124520806G	TENM1	NM_014253.3(TENM1):c.3034-10_3034-8del	noncoding	Benign
X	124520791	TAA	T	A124520807G	TENM1	NM_014253.3(TENM1):c.3034-9_3034-8del	noncoding	Benign
X	129539976	A	AATAT	G129539997A	OCRL	Single_allele	noncoding	Benign
X	129539976	A	AAT	G129539997A	OCRL	Single_allele	noncoding	Benign
X	129539976	AAT	A	A129539995G	OCRL	Single_allele	noncoding	Benign
X	129540624	AGGGCG	A	C129540638G	OCRL	NM_000276.4(OCRL):c.40-119GGGCG[2]	noncoding	Benign
X	129540662	G	GC	G129540663C	OCRL	NM_000276.4(OCRL):c.40-82_40-81insC	noncoding	Benign
X	129545004	ATT	A	T129545005C	OCRL	NM_000276.4(OCRL):c.167_168del:p.Ile56fs	coding	Pathogenic
X	129548544	C	CT	C129548553T	OCRL	NM_000276.4(OCRL):c.200-11dup	noncoding	Benign
X	129548555	CCT	C	T129548559A	OCRL	NM_000276.4(OCRL):c.200-4_200-3del	noncoding	Benign
X	129548577	CTT	C	T129548580G	OCRL	NM_000276.4(OCRL):c.217_218del:p.Leu73fs	coding	Pathogenic
X	129558887	CCAACACCATGCGGAAGCTCTTTGTACCAAATACCCAATCTGGGCAGCGGGAGGGTCTCATCAAACATATCCTGGCAAAGCGAGAGAAAGAATATGTCAACATTCAGACTTTCAGGTTAGTGTCTCTTTTGCTTCCTGAGTCTAAAAAGTTAGTATATATAACAGACAGTGGCCTGTTGATATTTAAGACATTAGCCTAATTAAGAATCAAAATATGATAAAAAGGAATGGTTGCCTGTTTCAAGCTCCTGTCTCTATGCTGGCCAATAACATGCATATCAGAAATAATGCAGATGCTACAGTTTCCCTTGGATTTTCTTTTTTTGTGTGTGTGGGTCAGGGTCTCTCTTTGTCACCCAGGCTGGAGAGCAGATAGATCATGGCTTACTGTAGCCTCAACCTCTCAGTCGTAAGCAATCCTCCCACGCCAGCCCTGCAAGTAGGTGGAACTACAGGTGCACACCACCACATCCAGCTAATATTTGTGTTTTTTATAGAGACTGGGTTTCACCAGGTTGCCCAGGCTGGTCTCAAATTCCTGAGCTCAGGCAATCCACCCGCCTTGGCCTCACAAAGTGTTAGGATTACAGGCTTGAGCCACCGTGCTTGGCCTTCCCTTGGATTTTCTAACTACTAATAATGCCATGTCTACTAATGTCTCTACTGAGTCCTAGAGAACCAAATCAAGGTCACATGTACTAGAGAATTTTCCCCTAGCACATTCCATAAGCAAGCGTGTTTATATATCTGGCCTGTTAAGTTTTTTTTTTTCAGCCAATATTAGAAAATTAAAGTCCATCATTACCACTAGCTCTTAACTTACTTACTTTGGTAAATAAAGAAAGTTTCACCCAGTCCTCTTGATTGGGAGGTCTATCTTGGGTTCTTTTATCTGTATTATTTTTTATTTCATCTTTTTTCTGGACTTGTGTGTGTATGCTGCATGTGAGGTACCATGTGGCATGTATCGCCAATGCATGAAGCAACACCACATTTCTTTGTTATTCATGAGCAGAATGTACCCTTCTAGTCCAAGATTCTAGTCCCATCTGCTATCCTGTCATACCTCATTTATTCTAATTCAGTCATAACTATATCCCTATGCTAAAACTTGCAGTTCCTCATATCCCCCACTATGCTTATATTTGTGTGTAAACAGTTAAGACAGTCATGAGTTTTCCCTTCTGCTTTCCCCCTTAATACTATGTCTGCCTCATCAGAATTTCCTACACAGATGTCCTTGTAATCCTTCAGGAAGTGAGTTCCTGGAGTCAACTATAGCCCCTTATAGAACATTTATCCATATTTGACTAGCTTACAGCATGAAGATACCTCTTTCCCATCCATAAGCTCTCCTATCAAGTATGAGTTTGGATGGAGCTTAATTGAAAGGAAATGTGGTATAGCAATTACCTTTGCATTTTTTAAAAATAAAGACTTGGTTTCCTTCTGTAGTTTTACTTAATGTAAAATTTAGAGAAAATAAGCCCACTGCCTTTGTGTTCTAGATGCAAAAGATCTTTCTTACATATGTGGCAAAACATTTTGAGGAATTATGTTAGCATATTGTGAACATACCTTTGTATGGAAGCGAAAAGAAAGAACTTCTGTTGGTTTATACTTGATCTTTGTTTTCAAATTATCTTTTCGTATTATGTATTAGATTTTTTGTTGGAACTTGGAATGTGAATGGCCAGTCTCCAGATAGCGGGTTAGAACCTTGGCTGAACTGTGATCCCAATCCTCCTGATATCTACTGCATTGGGTAAAGAACACTTCTGGAATTTCCTTTTGGCTATATGTTTGGTGTTCATTTACATGATGTTTTGCCTTTTTTAAAAAAGACTGTTGGTAAAACCTACTGTAGACTATACACGAGAGTTAACTTGCGGGTCAAATTTGTGAGAACAGAAATGAACAGATACCTAAAATGGTGTAAGGAAGCATCTAATTTTCTTGAAACCCGTAGGAATCTATATATTCTGCATAGAAACTAAGACTTGGGGTCAGTTCTAACAGTGACAGTTCCTAGGATATAAGAGCAAAGCTCTGCTGTTATCCTCTGTGGGAGGTATTTTGATTTATTTTTTGCATAGCTTATGAATGTACTTGTGGGAATTCTTTAGAAAAGAAAGCTACTTGTTCTTACTGATAACCTGGGTGAACAGAGCAGTTCTATAAAATTTATCTCTCTCCCATCTTTTTTTCATCTAATGTTTCAACATATGGGACAGGAGGTAGCCAGAGATAATTATGGGATATGTATAGATCTCATATCCCTTTTTTCCTCAGATTCCAAGAACTGGACTTGAGCACAGAAGCCTTCTTCTACTTTGAATCTGTGAAGGAACAAGAATGGTCCATGGCTGTAGAGAGAGGTTTGCATTCCAAAGCCAAGTATAAGAAAGTAAGCCGCATTTAATTATCTTTTTAAGTGTATGACTAAATAGGGCTCACCGGGAGTTATTCCATTATCTACAACTTGTTCCAAAAGAATAGTTTAATTGAATTCTTCTCTGTGTGTAATACTGGGATAGGGCAGATTGATCATTCATCCTTATTTCCTAGAAAAAAAAATCCCTAAGCTTTCTGATACTATATTTTCATTGCTTAGATAGCTTTTAGGGGAAAAAAGAATTTTATTATGCTTATATCAATACTTAGTTTGAAATAATTACATATAAGATTTAGATTACTCACTGACATGGTCAGAATTGAATGCTTTACAGAAAAGCAATATGAAACGTGGGCGCATGGTGCATGTGTTGCAATCAGAGCAAGAATAGAAGTGGTGTGGAATTTGAACGAGTTCTAAACTTGGTTTTAAGTTAAGAGGAGAGTTGACTTTAGCAAGATGGGCCAATTTGTTTGTCTTTAGAAGGTATGTGGTAAAGGCATTTAGCTACCAGAAGAGTTAATTACAGGGCTATCATACTAAGGTCTCTAAAAGAAGTAATGTGAGTAATTTTTCTCTACATCTTCTAACAGTTTATATAGGTAATAAAACTCCTGGGGATGTTATTCCTCTCATATAGGTCCCTGACTAATGTATATCTCAGACATATTTCTAGCTGTAGTTCACAAGTTAAAAATAAGTAAAAAAGATTGCTGTTTGGTTGATTTCAATTTCTTAGAAAATTAGACATCAGAAACTAGGAAGGAAAGGTGGAAGGAACAAGCTGGGATAGTGGCTTTATTATTTGAACTTTTAATGCTGCTTACTCCTGGTAGGCTAAGAAGTGATTAAAAGAATAGATCTAGAGCTGAAAGTACTCATTGTCCCTCCCAGCTTTTAACTCTTATTGGTCAGTGCCAGATTAGAGCCTCCCCAGAGAATATTAGTTTCCACTTGACGGGGTCCACTGAGAAATTAGAGGATATGAAGTCAGATTTGGGCACTAGTATATCATCTTGATGGAAAATTAGTCGTGGGACATTAGAAATGTGGCAAAGATTGGTATTAACATTAACCTTTTGTAACTCCCCGGAACTCATAGGTTCAACTGGTGCGCCTTGTTGGGATGATGCTTCTTATATTTGCCAGAAAGGATCAGTGTCGATACATTCGTGATATTGCTACAGAAACAGTTGGAACTGGAATCATGGGGAAAATGGTGAGTTACTTTGGAAATGAGCTTGATTATTATTCATGTTCATGTAAAGTTCAGTTGCTTGTTCTGTGTACTAATTGAATAATTACTCTTGCTAACAGGGAAACAAAGGTGGGGTAGCTGTGAGATTTGTATTTCACAACACCACCTTTTGCATTGTCAATTCCCATCTGGCTGCACACGTGGAGGACTTTGAGAGAAGGAATCAAGATTATAAGGACATTTGTGCGAGAATGAGTTTTGTGGTCCCAAATCAGACCCTCCCGCAGTTGAACATCATGAAACATGAGTAAGTGGTTAACTCACCTGTAGCCTTTGAGTAGTGGCTACAGGAGTTTGGATAGTGTAGAGATTAAATGTGAGATACTGTAGAGCTGTGAAGAGTGAAAGATTACCAGTGAGGGATTGGGGTCACAAAGGAGAGGGTTTTTGAGTAATAACAGAATCATTGAGGCAGAGAAATTAGACTTGATATCAGAGGAAAAGATAGTTCTATTAGTGGGGCACCTAGAATAATGCTGGAGGGTCTGTAGTTGGAGTCAGTTTTTATTGTTTTTATGATAAAATAGAAATATTCATTGCAAATGTAATAAAAGATAAAATTAGAAGTTAAATTTCCTCATTTCTTATTCTCTA	C	A129558889C	OCRL	NM_000276.4(OCRL):c.610_1244+348del	coding	Pathogenic
X	129558934	CGGGA	C	A129558938T	OCRL	NM_000276.4(OCRL):c.659_662del:p.Glu220fs	coding	Pathogenic
X	129558941	GT	G	T129558942C	OCRL	NM_000276.4(OCRL):c.663del:p.Leu222fs	coding	Pathogenic
X	129560564	CT	C	T129560566G	OCRL	NM_000276.4(OCRL):c.739del:p.Trp247fs	coding	Pathogenic
X	129560646	CA	C	A129560647T	OCRL	NM_000276.4(OCRL):c.820del:p.Ile274fs	coding	Pathogenic
X	129565770	AG	A	G129565773T	OCRL	NC_000023.10:g.128699748del	noncoding	Pathogenic
X	129567702	A	AT	C129567711T	OCRL	NM_000276.4(OCRL):c.1466+347dup	noncoding	Benign
X	129576099	G	GTCC	A129576102C	OCRL	NM_000276.4(OCRL):c.1879+39_1879+40insCTC	noncoding	Benign
X	129576359	ACT	A	C129576362G	OCRL	NM_000276.4(OCRL):c.1925_1926del:p.Ser642fs	coding	Pathogenic
X	129584149	TGTATA	T	T129584153A	OCRL	NM_000276.4(OCRL):c.2116-191_2116-187del	noncoding	Benign
X	129589947	AAC	A	C129589949T	OCRL	NM_000276.4(OCRL):c.2574_2575del:p.Met859fs	coding	Pathogenic
X	129814806	AAG	A	A129814813T	ZDHHC9	NM_016032.4(ZDHHC9):c.488-19CT[3]	noncoding	Benign
X	129814921	G	GT	A129814937T	ZDHHC9	NM_016032.4(ZDHHC9):c.488-141dup	noncoding	Benign
X	129814921	GT	G	T129814936A	ZDHHC9	NM_016032.4(ZDHHC9):c.488-127del	noncoding	Benign
X	129823664	TG	CA	T129823664C	ZDHHC9	NM_016032.4(ZDHHC9):c.487+14_487+15inv	noncoding	Benign/Likely_benign
X	129824051	C	CT	C129824060T	ZDHHC9	NM_016032.4(ZDHHC9):c.329-222dup	noncoding	Benign
X	130069471	GC	G	C130069472A	ELF4	NM_001421.4(ELF4):c.1015del:p.Ala339fs	coding	Pathogenic
X	130133630	AT	A	T130133642C	AIFM1	NM_004208.4(AIFM1):c.1306-176del	noncoding	Benign
X	131276434	CATTT	C	T131276438C	IGSF1	NM_001555.5(IGSF1):c.2609-190_2609-187del	noncoding	Benign
X	131282310	C	CGT	A131282323G	IGSF1	NM_001555.5(IGSF1):c.1246+122AC[7]	noncoding	Benign
X	131287056	CAT	C	T131287070C	IGSF1	NM_001555.5(IGSF1):c.-67-329AT[6]	noncoding	Benign
X	132078646	C	CA	T132078648A	FRMD7	NM_194277.3(FRMD7):c.1370dup:p.Met457fs	coding	Pathogenic
X	132078740	TCA	T	C132078741G	FRMD7	NM_194277.3(FRMD7):c.1275_1276del:p.Glu426fs	coding	Pathogenic
X	132084523	CTT	C	T132084525C	FRMD7	NM_194277.3(FRMD7):c.706_707del:p.Lys236fs	coding	Pathogenic
X	132086046	GA	G	A132086051G	FRMD7	NM_194277.3(FRMD7):c.383-13del	noncoding	Benign
X	132086207	T	TG	C132086216G	FRMD7	NM_194277.3(FRMD7):c.383-181dup	noncoding	Benign
X	132094080	T	TCA	T132094084A	FRMD7	NM_194277.3(FRMD7):c.342_343dup:p.Asp115fs	coding	Pathogenic
X	132097402	T	TAC	C132097429A	FRMD7	NM_194277.3(FRMD7):c.206-84GT[14]	noncoding	Benign
X	132127801	ATCT	A	T132127805G	FRMD7	NM_194277.3(FRMD7):c.38AGA[1]:p.Lys14del	coding	Pathogenic
X	133027851	G	GTGT	G133027858T	USP26	NM_031907.3(USP26):c.364ACA[3]:p.Thr123dup	coding	Benign
X	133324200	CGG	GTAA	C133324200G	GPC4	NM_001448.3(GPC4):c.654_656delinsTTAC:p.Arg219fs	coding	Pathogenic
X	133324550	CAA	C	A133324568G	GPC4	NM_001448.3(GPC4):c.320-16_320-15del	noncoding	Benign
X	133324550	CA	C	A133324569G	GPC4	NM_001448.3(GPC4):c.320-15del	noncoding	Benign
X	133535890	TTTTC	T	C133535898G	GPC3	NM_004484.4(GPC3):c.*226GAAA[1]	noncoding	Benign
X	133661760	TTGAC	T	T133661765C	GPC3	NM_004484.4(GPC3):c.1379_1382del:p.Ser460fs	coding	Pathogenic
X	133692496	TA	T	A133692500G	GPC3	NM_004484.4(GPC3):c.1167-3del	noncoding	Benign
X	133704277	G	GA	G133704291A	GPC3	NM_004484.4(GPC3):c.1033-4262dup	noncoding	Benign
X	133753851	CT	C	T133753853G	GPC3	NM_004484.4(GPC3):c.662del:p.Lys221fs	coding	Pathogenic
X	133953106	TG	T	G133953107A	GPC3	NM_004484.4(GPC3):c.280del:p.Gln94fs	coding	Pathogenic
X	134460318	ACCCGCAG	A	G134460322T	HPRT1	NM_000194.3(HPRT1):c.11_17del:p.Arg4fs	coding	Pathogenic
X	134473455	AT	A	T134473457A	HPRT1	NM_000194.3(HPRT1):c.126del:p.Met43fs	coding	Pathogenic
X	134475201	ATGTGATGAAGGAGATGGGAGGCCATCACATTGTAGCCCTC	A	A134475206T	HPRT1	NM_000194.3(HPRT1):c.160_199del:p.Met54fs	coding	Pathogenic
X	134475361	TTG	T	T134475366A	HPRT1	NM_000194.3(HPRT1):c.317_318del	coding	Pathogenic
X	134486444	G	GT	A134486459T	HPRT1	NM_000194.3(HPRT1):c.319-7dup	noncoding	Benign
X	134490193	CT	C	T134490195G	HPRT1	NM_000194.3(HPRT1):c.392del:p.Val130_Leu131insTer	coding	Pathogenic
X	134490501	GTA	G	A134490515C	HPRT1	NM_000194.3(HPRT1):c.402+297TA[6]	noncoding	Benign
X	134493575	T	TG	T134493578G	HPRT1	NM_000194.3(HPRT1):c.472dup:p.Val158fs	coding	Pathogenic
X	134498606	AGTT	A	T134498611G	HPRT1	HPRT_MICHIGAN	noncoding	Pathogenic
X	134498630	CAA	C	A134498631G	HPRT1	NM_000194.3(HPRT1):c.556_557del:p.Lys186fs	coding	Pathogenic
X	135998094	CTTTAT	C	T135998099A	SLC9A6	NM_001379110.1(SLC9A6):c.370-9_370-5del	noncoding	Pathogenic
X	135998464	C	CT	G135998477T	SLC9A6	NM_001379110.1(SLC9A6):c.448-6dup	noncoding	Benign/Likely_benign
X	135998464	C	CTT	G135998477T	SLC9A6	NM_001379110.1(SLC9A6):c.448-7_448-6dup	noncoding	Benign
X	136002093	C	CT	A136002099T	SLC9A6	NM_001379110.1(SLC9A6):c.638-10dup	noncoding	Benign
X	136002213	CGTAA	C	A136002216G	SLC9A6	NM_001379110.1(SLC9A6):c.743+3_743+6del	coding	Pathogenic
X	136010224	A	ACC	G136010235C	SLC9A6	NM_001379110.1(SLC9A6):c.744-209_744-208dup	noncoding	Benign
X	136010224	A	AC	G136010235C	SLC9A6	NM_001379110.1(SLC9A6):c.744-208dup	noncoding	Benign
X	136010502	G	GT	C136010505T	SLC9A6	NM_001379110.1(SLC9A6):c.806dup:p.Lys270fs	coding	Pathogenic
X	136024459	C	CA	T136024462A	SLC9A6	NM_001379110.1(SLC9A6):c.1438dup:p.Met480fs	coding	Pathogenic/Likely_pathogenic
X	136033474	TG	T	G136033476T	SLC9A6	NM_001379110.1(SLC9A6):c.1644del:p.Trp548fs	coding	Pathogenic
X	136033510	GA	G	A136033521G	SLC9A6	NM_001379110.1(SLC9A6):c.1661+28del	noncoding	Benign
X	136033510	G	GA	G136033522A	SLC9A6	NM_001379110.1(SLC9A6):c.1661+28dup	noncoding	Benign
X	136033603	ACCTTTCATCTTCCCTTTCCCCATCAGTGCTGTGGAAAAGGAAACCCACACAGACAGATT	A	T136033607C	SLC9A6	NM_001379110.1(SLC9A6):c.1661+114_1661+172del	noncoding	Benign
X	136169520	G	GA	G136169530A	FHL1	NM_001159702.3(FHL1):c.-100-378dup	noncoding	Benign
X	136170075	AC	A	C136170077A	FHL1	NM_001159702.3(FHL1):c.-27+97del	noncoding	Benign
X	136207096	CT	C	T136207099G	FHL1	NM_001159699.2(FHL1):c.288del:p.Phe96fs	coding	Pathogenic
X	136207824	TG	T	G136207826C	FHL1	NM_001159699.2(FHL1):c.414del:p.Trp138fs	coding	Pathogenic
X	136207852	AC	A	C136207853T	FHL1	NM_001159699.2(FHL1):c.441del:p.Cys148fs	coding	Pathogenic
X	136207907	CTGCGTGACT	C	G136207911C	FHL1	NM_001159699.2(FHL1):c.499_507del:p.Val167_Cys169del	coding	Pathogenic
X	136207930	A	AG	T136207932G	FHL1	NM_001159699.2(FHL1):c.519dup:p.Phe174fs	coding	Pathogenic
X	136208521	AC	A	C136208523T	FHL1	NM_001159699.2(FHL1):c.618del:p.Cys207fs	coding	Pathogenic
X	136208611	AAGTGTGCTGGATGCAAGAACCCCATCACTGGTAGGCTAAAGAGTCCTTGCT	A	G136208613A	FHL1	NM_001159699.2(FHL1):c.708_736+22del	coding	Pathogenic
X	136209852	TC	T	C136209853T	FHL1	NM_001159699.2(FHL1):c.737-18del	noncoding	Benign/Likely_benign
X	136650261	AATAG	A	T136650267A	CD40LG	NM_000074.3(CD40LG):c.158_161del	noncoding	Pathogenic
X	136650270	A	AG	A136650271G	CD40LG	NM_000074.3(CD40LG):c.161_162insG:p.Asp55fs	coding	Pathogenic
X	136650294	A	AT	G136650299T	CD40LG	NM_000074.3(CD40LG):c.189dup:p.Val64fs	coding	Pathogenic
X	136650415	TG	T	G136650417T	CD40LG	NM_000074.3(CD40LG):c.288+20del	noncoding	Benign
X	136650573	T	TA	C136650586A	CD40LG	NM_000074.3(CD40LG):c.288+188dup	noncoding	Benign
X	136659034	AACAGTGTT	A	T136659041G	CD40LG	NM_000074.3(CD40LG):c.412_419del	noncoding	Pathogenic
X	136659095	GA	G	A136659099T	CD40LG	NM_000074.3(CD40LG):c.470del:p.Asn157fs	coding	Pathogenic
X	136874258	CCATAGAAGGGGGAAGCCCTCTTT	C	A136874260T	RBMX	NM_002139.4(RBMX):c.1037_1059del:p.Glu346fs	coding	Pathogenic
X	137567289	CG	C	G137567290C	ZIC3	NM_003413.4(ZIC3):c.599del:p.Arg200fs	coding	Pathogenic
X	137567499	CG	C	G137567501A	ZIC3	NM_003413.4(ZIC3):c.810del:p.Thr271fs	coding	Pathogenic
X	137567549	TGTGGG	T	T137567551G	ZIC3	NM_003413.4(ZIC3):c.860_864del:p.Val287fs	coding	Pathogenic
X	137567663	C	CTT	G137567664T	ZIC3	NM_003413.4(ZIC3):c.972_973insTT:p.Glu325fs	coding	Pathogenic
X	137568943	CG	C	G137568944C	ZIC3	NM_003413.4(ZIC3):c.1103del:p.Arg368fs	coding	Pathogenic/Likely_pathogenic
X	139530746	CA	C	A139530748T	F9	NM_000133.4(F9):c.-17del	noncoding	Pathogenic
X	139537156	GAAAACACTGAA	G	A139537158G	F9	NM_000133.4(F9):c.237_247del:p.Thr81fs	coding	Pathogenic
X	139541188	AGGTAAGTAACTATTTTTTGAATACTCATGGTTCAAAGTTTCCCTCTGAAACAAGTTGAAACTGGAAAATGCAATATTGGTGTATCATAATTTTTCTTAAAAACATACCTTTGATGCTTATAAACATTTCATTTGTAGTGATAGTTTTCAGGATATGAGTTCAAGAAGCTACATTAAAATCAATAACAATATTTGGTAACTAATATTAAGTAATAATGATGTTCCACTCACTTATTAATCTTTAATACAACCGTATGTGGTTAGTACTATCATTATGCGCATTCTATGCAGATGAGAAAACCGCAACTCCAACGGCCAAAAATTACAGAGGCATAAATGGTTTAGACAGGACTTAAACTTCAGTGTGACCAAAACCCATGCTTCTAACTACTATATTCAAAACTCAGAGAAAACTGAACCCAGAAAATTGAAATCATGACTAAATTGCTATCAACATAGGTAGTGAAAGTCAATTAAGTACAGAACTGGAGTATGACTGGCCAATTATCCCATATAATGGGAATTCTCCACATGTACAAACCACTTCATATGCTAAACTTGTTGACAACATTCAAAGCTCATCCCTGAATTTGACTATATTGATTACATCAAAAATGTTACATAGCAACCTTAGAATCCTTGTGTACCTTTTCTTCTCAAAGCCTAGATTATTTCTTTTTCCGACGTTTCAGTAATTGGAGCAGTAAACCCCAGTGTCCCTTACCTACTTGTTTATTACCTCCAGATGCAATATTACTGGTACTGTGATTGAGAAACGCACACAGTGCTAATGAGGAATTCACTTTCTACTCTGACACTCTGGAAGAATAGAGATGCAATCCTAAGGAAGAATTTAACACCACAGGCTACATGACTAAGGATAAAGAGTAGAAAATTAGCAGGACTCTATTAAGGCATTACAGCAATCCACCTGACAGATGAAAAAGGCATGAAATGAAATGAAATGTAGCAGCTACACTCGTCCTATTGAGAAAGGAAAAAAGTCACCTGTAATGTTGTTCAGAAATCCTTTCAGTACTAAAAAATTCATTGACCATCTTCCTTTAGTCTCGAAAATTTCTTAGAAGGTAAAAAAAGGAAAAGGTGACAGGGCAAAGACATTTGAAAAGAAAGAAAAGAGTGAATGAACTTGCACACCTGGCTTGGACTCCCATTCCCTTAGGTTTCCATTGTGGGGGACAAACTAATGCCTGGGTTACCTTTCTTGAGAGTGTGTTAATTGATTCAATATCTCTGAAGTGCTACTTTCATCTGAAAGGTTATAATTTGAAATTCAGATTTACCTGGATAAATTTGATCTTGCTATTATGGAAACCTCTAGAAATCCTTGGAGTAGTTACTCATTATCAGCTTAAATAATATAGCCGGTGGAGCTGAGGGAATGAGTAACTCAATTAGTCTCAGTTACAACTGAAGGGCACATTGTTGTAAACTATAATTGAAAACATAAATATCTTTACCTAGTTTAAAAATAAAGATGCTTTAAAAGGAGGAAGGGAATAGCCCTGAGGAATGTAAATATAAGCACAAAACTTCTACAACAGAGTTTGCTACGTGTGTGGCTGTGTTCCACCCAGCAAAAATGCTAAGTCTACAACTGACACAACTTGGATACTCTCATGTTCCCACATTTTGGTTTGGTCAAGGCTGTGCAGTTGTACTGCAGCCACCACCACTCCTGGCCTCTACAGTATATTGATCTGACCCACCAATCTGATCAAGGTTTAGAAAAATATTTTCAGCCCAGTTAGCTCACAAACAAAATGAGAATTCCCACAAATTGCTCTTTATCTCAGACAACAGAGGAAAGCTACAGCAAAAGCATAAACAAATTACCATTTAAGTTTGTTGCTTCAAATTAAAGACTAATTGCAACAGCTACTAGATAGCACAGTTTATGGGGCATCTCGGCCCCAAGTCTTTTGTCTTATAAGGTCTTGAAAAAAAGAAAGGAGATTTTCATCAATAAGAGTTTTTTGTTATCTTTTTCCCTTGTTCATCAGGCCCTTCACTGCGAGAGAGAGGTGTAAACGTTCAGGGCATGCATTCTAGTTAAAGAATATTAATTGGCTATTGGGTCCCTTTGGTTAGAATAAAGACCTCTGTATGATGTCCCTAGCTGTACATCAAACCCAAATATCTCTCAGATAAATGAAGGTCTGTAAGAATTTGGTCATTCCTGTCTCTTCTAAAGAGTAACAGAGGCATTTTCCCGCAGTAAAGTAGAATGGAAAGAAAACAAAAATCACAAGCCTATAAACACCTTCTTCAATTTTCCCAGCATGTCACAGACACTACTGTCTTATTTACTACGTATTTCTGAGGAGTAAAAAAAGGAAATATGTTGAGTTTAGCTGAAGCACAGCATATTTTGTGGTAAACTTGTTAAATAAAACATCTTTTGTCCAAGCTTTGGTTGTCACACAAGTGGATATATCAGGAAATATAAAGGCAGAATAAACTAAAGCAGAACATACTAACATTTGTAGTAGGCATGAAGGGAATTAGAAAGTGTTTGTGTTAACATGGAGGGAGGGAGAACAGATGCTTTGAGATGTTCTTCAACAGATATTCTAGGCACTGAGACCCCCTTCGGGACCAGAGAGAGCCCATATCCACCACAGTACCTGACACATAAATGCTCAGTAATTGATAAATGAGTCCCATTCTAACTGTTCCTTAGCCCTGCTCTATGGAACTCTCCCCTGGAATTCCTTGTGCCATTATTTTATTTCTGGAATCTTCAGCCTTTTAGCTGAGGGCAAAAGATTGCTGATTAGGAAGCAATATTTCCCACCTCCTGCGCAAAACAAGCCAAAGATCAACAGCAGCAGCAACATACTGAGCCCTAAAGGGCAATGACAAATGTGGAGAATGATACAGAGGTCTGGTTACTTCTTAGCCAATGACACAGAATCACAATTGAGAAAACACAGAGTTTATTCATTCCCATTGTGCATGCCCTGGACAAACCAAGCTGCACCTTTCGTAACTTATCACAATCTCATATTGACGGAACACTTTCTACAGGTAATGTTTGATTTGGCTGAACACTTTAGCATTGCTTCGTAGCAACAAAATGATAGCTAGTAACAGAAAAAGATCCAGGGATATTACCACTGTTAGTGAGGAGAAAGGCCTTTTAATTAATTAATTAATTAATTAATAGGACCAAGTGCCATCTTTTTGGATCATGCCCTTAGTGGATTATTGGTAGCAAAGGTTAAAGCTCAAGCTGGTTCCTTTGTCCCCCTGGCAACAGTTGATTTGCCTCCCTTTATCTCCTGAAGTATCCGTAAGGACTAAGAGCCAATTATTACATTTGGCTATGCTAGCATATGTAAAATAGAGTTTAAAAGTTTAGATTCATCACTCAAAAATTCATATTCTCCAAAACCATACAGTCACTCTGTTAGCCTGTGTTCCCCCAGAAAAAAAGTCACAAGCTTATTTATTAACATGTGCAATCCCAGGGGGCAAGAGAAAGGAACTGAAGAGTGAGGCAGAAAGGAAAAGAAAGCCAATAAGAGGATGAGTTATCAAACTACTCGTTTCTAACAGCAACTGATTGCTTAACTTCCTGGGACTGTCTCCAATAAGTCAAATTGGCCTCAGGTTAGTCCACCTGAGTGGGAAGAAGCGGTGAAAGAATTTGTCTGTCAGTATCTGTCTCTCATTGGTTAGAAGTTCGACTTATGGGGAATTAACTCCCTCACATTTCCTAGTTGGATATGCTTGGGTACCCAGAGGGTCATATGGCATCCATGCCTCAGCATGAACAGGGAAGCTTCAAGGCAAAAGACACATAGTGCAGCTATGAGCCAAGGCAATTCAAGGATACACCCATAGGAGGCTGGTTGACATCCACCCAGAGCTAATCACCACCATGCTGGAAAAAGACACAGGTGAAGCTGAGAAGAATGAAGGTGGTGCATAGGAGGTATCTAATACAGTCACTCATTTTCAAACTTTCCATGTTATGATTGCACTGACCACTGAGGATTTCTATTGAAAGTTTTACTGTTGTCAAACACGTACACAAGGGGAAAGGTGTCTTACATTGTTTATGTTCCTGTGCTGCTCTAGAAACAGAAATAGGCTCAAGAGCAGAGCCTGTTTTTCTTAATTCAGCAGGTCTAAGCTAACAAGTCCTGAAACATGGTACTTCCTGTTATTGGTATTGCATAGGAGAAACAAAGGGAAAGCACAGTAATTAGAAAATACAAAACAAGATGGCAGGAATAAGCCAAAAATATCAGGAAACACAATTATTGTGAATTGGGATTAAACTAATCTATTAATAATGACAACTTTCAGCTTGGAGTTAAAAATTTAATTGTATACTGTTAACGAAAGTGATACCTAAAATAAAATTACACTGGGAGGCCAAAATGAAGGGATGTGAAAAGAACTATCAGGTAAAAACTAA	TTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT	A139541188T	F9	NM_000133.4(F9):c.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT	coding	Pathogenic
X	139548362	GA	G	A139548363T	F9	NM_000133.4(F9):c.392del:p.Asp131fs	noncoding	Pathogenic
X	139560853	CAGGTAAATACACAGAA	C	G139560856A	F9	NM_000133.4(F9):c.838+1_838+16del	coding	Pathogenic
X	139562898	A	AGT	A139562909G	F9	NM_000133.4(F9):c.*828GT[6]	noncoding	Benign
X	140504329	T	TGCGGCCGCGGCAGCGGCGGCG	C140504363G	SOX3	NM_005634.3(SOX3):c.711_731dup:p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
X	147912049	CGCGGCGGCG	C	C147912072A	FMR1	NM_002024.6(FMR1):c.-129CGG[7]	noncoding	Benign
X	147912049	CGCGGCGGCGGCG	C	C147912069A	FMR1	NM_002024.6(FMR1):c.-129CGG[6]	noncoding	Benign
X	147912049	CGCGGCGGCGGCGGCG	C	C147912066A	FMR1	NM_002024.6(FMR1):c.-129CGG[5]	noncoding	Benign
X	147912081	A	AGGC	T147912112G	FMR1	NM_002024.6(FMR1):c.-98GGC[11]	noncoding	Benign
X	147921983	CAAGT	C	A147921988G	FMR1	NM_002024.6(FMR1):c.104+3_104+6del	coding	Pathogenic/Likely_pathogenic
X	149482521	TA	T	A149482531C	IDS	NM_000202.8(IDS):c.*224del	noncoding	Benign
X	149482809	C	CA	T149482812A	IDS	NM_000202.8(IDS):c.1589dup:p.Leu530fs	coding	Pathogenic
X	149482837	T	TC	T149482842C	IDS	NM_000202.8(IDS):c.1561dup:p.Glu521fs	coding	Pathogenic
X	149482906	C	CTA	G149482911T	IDS	NM_000202.8(IDS):c.1491_1492dup:p.Arg498fs	coding	Pathogenic
X	149482932	GC	G	C149482935A	IDS	NM_000202.8(IDS):c.1466del:p.Gly489fs	coding	Pathogenic
X	149482948	TCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATG	T	C149482949A	IDS	NM_000202.8(IDS):c.1277_1450del:p.Ser426_Asp484delinsTyr	coding	Pathogenic
X	149482956	ACTCGG	A	C149482959T	IDS	NM_000202.8(IDS):c.1438_1442del:p.Pro480fs	coding	Pathogenic
X	149482961	GCTTGTCAGAATT	G	T149482963C	IDS	NM_000202.8(IDS):c.1426_1437del:p.Asn476_Lys479del	coding	Pathogenic
X	149482967	CA	C	A149482968G	IDS	NM_000202.8(IDS):c.1431del:p.Asp478fs	coding	Pathogenic
X	149482996	CG	C	G149483000A	IDS	NM_000202.8(IDS):c.1402del:p.Arg468fs	coding	Pathogenic
X	149483041	AGGTAC	A	T149483044A	IDS	NM_000202.8(IDS):c.1353_1357del:p.Tyr452fs	coding	Pathogenic
X	149483082	CA	C	A149483083G	IDS	NM_000202.8(IDS):c.1316del:p.Leu439fs	coding	Pathogenic
X	149483126	GA	G	A149483128C	IDS	NM_000202.8(IDS):c.1272del:p.Pro425fs	coding	Pathogenic
X	149483159	C	CAG	A149483161G	IDS	NM_000202.8(IDS):c.1239_1240insCT:p.Ala414fs	coding	Pathogenic
X	149483174	T	TG	A149483178G	IDS	NM_000202.8(IDS):c.1224dup:p.Thr409fs	coding	Pathogenic
X	149483177	GA	G	A149483182G	IDS	NM_000202.8(IDS):c.1221del:p.Thr409fs	coding	Pathogenic
X	149483178	AAAAAGAG	A	A149483180C	IDS	NM_000202.8(IDS):c.1214_1220del:p.Ser405fs	coding	Pathogenic
X	149483181	AAG	A	G149483185C	IDS	NM_000202.8(IDS):c.1216_1217del:p.Leu406fs	coding	Pathogenic
X	149483207	TG	T	G149483209A	IDS	NM_000202.8(IDS):c.1191del:p.Met398fs	coding	Pathogenic
X	149486954	A	ATGCGACCCTTT	A149486955T	IDS	NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA:p.Phe384Ter	coding	Pathogenic
X	149486975	AG	A	G149486976C	IDS	NM_000202.8(IDS):c.1129del:p.Leu377fs	coding	Pathogenic
X	149486989	CT	C	T149486990C	IDS	NM_000202.8(IDS):c.1115del:p.Glu372fs	coding	Pathogenic
X	149490364	TC	T	C149490366A	IDS	NM_000202.8(IDS):c.955del:p.Asp319fs	coding	Pathogenic
X	149490419	AGT	A	G149490420A	IDS	NM_000202.8(IDS):c.899_900del:p.Tyr300fs	coding	Pathogenic
X	149490424	C	CT	C149490426T	IDS	NM_000202.8(IDS):c.895dup:p.Ser299fs	coding	Pathogenic
X	149490433	A	AT	C149490438T	IDS	NM_000202.8(IDS):c.886dup:p.Ile296fs	coding	Pathogenic
X	149496357	CA	C	A149496358G	IDS	NM_000202.8(IDS):c.867del:p.Val290fs	coding	Pathogenic
X	149496423	TCC	T	C149496424A	IDS	NM_000202.8(IDS):c.800_801del:p.Trp267fs	coding	Pathogenic
X	149496423	T	TC	A149496426C	IDS	NM_000202.8(IDS):c.801dup:p.Met268fs	coding	Pathogenic
X	149496438	CC	G	C149496438G	IDS	NM_000202.8(IDS):c.786_787delinsC:p.Ala263fs	coding	Pathogenic
X	149496447	G	GTA	G149496450T	IDS	NM_000202.8(IDS):c.776_777dup:p.Pro260fs	coding	Pathogenic
X	149496503	AACTTCTG	A	C149496505A	IDS	NM_000202.8(IDS):c.715_721del:p.Gln239fs	coding	Pathogenic
X	149497176	GA	G	A149497187C	IDS	NM_000202.8(IDS):c.709-661del	noncoding	Benign
X	149498110	GGGGT	C	G149498110C	IDS	NM_000202.8(IDS):c.701_705delinsG:p.Arg233_Tyr234insTer	coding	Pathogenic
X	149498127	TG	T	G149498128T	IDS	NM_000202.8(IDS):c.687del:p.His229fs	coding	Pathogenic
X	149498182	CT	C	T149498186C	IDS	NM_000202.8(IDS):c.632del:p.Lys211fs	coding	Pathogenic
X	149498187	CCAA	C	A149498192T	IDS	NM_000202.8(IDS):c.622TTG[1]:p.Leu209del	coding	Pathogenic
X	149498201	GC	G	C149498202T	IDS	NM_000202.8(IDS):c.613del:p.Ala205fs	coding	Pathogenic
X	149498212	GCT	G	C149498215G	IDS	NM_000202.8(IDS):c.601_602del:p.Ser201fs	coding	Pathogenic
X	149498219	TTG	T	G149498221C	IDS	NM_000202.8(IDS):c.594_595del:p.Asp198fs	coding	Pathogenic
X	149500819	CATT	C	T149500822C	IDS	NM_000202.8(IDS):c.507+127_507+129del	noncoding	Benign
X	149500981	GA	G	A149500982T	IDS	NM_000202.8(IDS):c.474del:p.His159fs	coding	Pathogenic
X	149501042	GA	G	A149501053G	IDS	NM_000202.8(IDS):c.419-6del	noncoding	Benign/Likely_benign
X	149501168	A	AG	T149501171G	IDS	NM_000202.8(IDS):c.419-133dup	noncoding	Benign
X	149503424	CA	C	A149503425G	IDS	NM_000202.8(IDS):c.305del:p.Leu102fs	coding	Pathogenic
X	149503481	CA	C	A149503482C	IDS	NM_000202.8(IDS):c.248del:p.Val83fs	coding	Pathogenic
X	149504007	A	AT	C149504012T	IDS	NM_000202.8(IDS):c.240+146dup	noncoding	Benign
X	149504058	CGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTT	C	C149504060G	IDS	NM_000202.8(IDS):c.186_240+98del	noncoding	Pathogenic
X	149504154	T	TTCCCAGA	A149504155T	IDS	NM_000202.8(IDS):c.240+2_240+3insTCTGGGA	noncoding	Pathogenic
X	149504160	CGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCA	C	C149504162G	IDS	NM_000202.8(IDS):c.152_236del:p.Leu51fs	coding	Pathogenic
X	149504263	TC	T	C149504265A	IDS	NM_000202.8(IDS):c.133del:p.Asp45fs	coding	Pathogenic
X	149504293	TC	A	T149504293A	IDS	NM_000202.8(IDS):c.104-1_104delinsT	coding	Pathogenic
X	149505080	CG	C	G149505082A	IDS	NM_000202.8(IDS):c.57del:p.Val20fs	coding	Pathogenic
X	150470605	AT	A	T150470606C	MAMLD1	NM_005491.5(MAMLD1):c.1033del:p.Ser345fs	coding	Pathogenic
X	150471052	A	ACAG	A150471079G	MAMLD1	NM_005491.5(MAMLD1):c.1482GCA[9]:p.Gln502dup	coding	Benign
X	150619030	G	GC	A150619036C	MTM1	NM_000252.3(MTM1):c.343-3dup	noncoding	Benign
X	150645822	A	AAC	T150645825A	MTM1	NM_000252.3(MTM1):c.819_820dup:p.Leu274fs	coding	Pathogenic
X	150649855	A	ATT	G150649858T	MTM1	NM_000252.3(MTM1):c.1008_1009dup:p.Trp337fs	coding	Pathogenic
X	150660359	GT	G	T150660364G	MTM1	NM_000252.3(MTM1):c.1354-7del	noncoding	Benign
X	150660413	AT	A	T150660417G	MTM1	NM_000252.3(MTM1):c.1400del:p.Leu467fs	coding	Pathogenic
X	150698971	CTTTG	C	T150698976A	MTMR1	NM_001306144.3(MTMR1):c.147-219_147-216del	noncoding	Benign
X	151404897	G	GT	C151404906T	VMA21	NM_001017980.4(VMA21):c.164-11dup	noncoding	Benign
X	151404897	GT	G	T151404905C	VMA21	NM_001017980.4(VMA21):c.164-11del	noncoding	Benign
X	151405271	G	GTTAAA	G151405275A	VMA21	NM_001017980.4(VMA21):c.*216_*217insAATTA	noncoding	Benign
X	152858752	C	CT	C152858756T	NSDHL	NM_015922.3(NSDHL):c.268-15dup	noncoding	Benign
X	152859099	GATTT	G	A152859100G	NSDHL	NM_015922.3(NSDHL):c.414+184_414+187del	noncoding	Benign
X	153505756	GA	G	A153505758C	BGN	NM_001711.6(BGN):c.352-105del	noncoding	Benign
X	153588459	AAAG	A	A153588466G	CCNQ	NM_152274.5(CCNQ):c.658-14CTT[2]	noncoding	Benign
X	153691351	TAC	T	C153691353T	SLC6A8	NM_005629.4(SLC6A8):c.444_445del:p.Ile149fs	coding	Pathogenic
X	153691354	A	ATCATGGTGGCTGAGGCGGGAGAATCTCTTGAAGCCGGGAAGCAGAGGTTGCAGTGAACCGACATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAATAAATAAAAATAAAATAAAATAAAACAAGGTCTCATTCTCTTACCCAGGCTGGAGTGCAGTGGTACAATCAGAGCTCACCCCAGCCACAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCCTCCCTTGAATAGCTAGGACTACAAGTGTATGCCTCCAGGCCTGGCTAATTGTTTTTAATTTTTTGGTAGAGGCAGGGATCTCATTGTATTGCCCAGGCTGGGGTCCCAAACTCCTGATCACAAGTGAACCTCCTGCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCTCCCTGACAATTTCTGGCTGCATGGACTTCTGGTTACAAGCAGGGAAACTGAGGCCTGGATACAGCAAACAGGATCTGGCCCAGCTTTAAGTGGGGAACATGCAGTTTGGGGGACCCAGGC	C153691363G	SLC6A8	NM_005629.4(SLC6A8):c.453_454insGCTGAGGCGGGAGAATCTCTTGAAGCCGGGAAGCAGAGGTTGCAGTGAACCGACATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAATAAATAAAAATAAAATAAAATAAAACAAGGTCTCATTCTCTTACCCAGGCTGGAGTGCAGTGGTACAATCAGAGCTCACCCCAGCCACAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCCTCCCTTGAATAGCTAGGACTACAAGTGTATGCCTCCAGGCCTGGCTAATTGTTTTTAATTTTTTGGTAGAGGCAGGGATCTCATTGTATTGCCCAGGCTGGGGTCCCAAACTCCTGATCACAAGTGAACCTCCTGCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCTCCCTGACAATTTCTGGCTGCATGGACTTCTGGTTACAAGCAGGGAAACTGAGGCCTGGATACAGCAAACAGGATCTGGCCCAGCTTTAAGTGGGGAACATGCAGTTTGGGGGACCCAGGCTCATGGTG:p.Leu152delinsAlaGluAlaGlyGluSerLeuGluAlaGlyLysGlnArgLeuGlnTer	coding	Pathogenic
X	153691535	CT	C	T153691536G	SLC6A8	NM_005629.4(SLC6A8):c.627del:p.Val210fs	coding	Pathogenic
X	153693106	GC	G	C153693107T	SLC6A8	NM_005629.4(SLC6A8):c.844del:p.Leu282fs	coding	Pathogenic
X	153693329	C	CT	G153693331T	SLC6A8	NM_005629.4(SLC6A8):c.980dup:p.Ser329fs	coding	Pathogenic
X	153693364	CAAGT	C	T153693368C	SLC6A8	NM_005629.4(SLC6A8):c.1016+2_1016+5del	coding	Pathogenic
X	153693478	GCT	G	T153693482A	SLC6A8	NM_005629.4(SLC6A8):c.1037_1038del:p.Leu346fs	coding	Pathogenic
X	153693939	T	TC	G153693940C	SLC6A8	NM_005629.4(SLC6A8):c.1176_1177insC:p.Val393fs	coding	Pathogenic
X	153693972	TG	T	G153693973C	SLC6A8	NM_005629.4(SLC6A8):c.1210del:p.Ala404fs	coding	Pathogenic
X	153694156	CG	C	G153694158C	SLC6A8	NM_005629.4(SLC6A8):c.1283del:p.Gly428fs	coding	Pathogenic
X	153694164	TCGACCTCCTCC	T	A153694167G	SLC6A8	NM_005629.4(SLC6A8):c.1292_1302del:p.Asp431fs	coding	Pathogenic
X	153694212	CTG	C	T153694215G	SLC6A8	NM_005629.4(SLC6A8):c.1340_1341del:p.Val447fs	coding	Pathogenic
X	153694278	T	TG	T153694285G	SLC6A8	NM_005629.4(SLC6A8):c.1392+17dup	noncoding	Benign/Likely_benign
X	153694327	TGGGCTCTGTCCCCCA	T	T153694332G	SLC6A8	NM_005629.4(SLC6A8):c.1393-12_1395del	noncoding	Pathogenic
X	153694344	GGCGGGA	G	G153694345T	SLC6A8	NM_005629.4(SLC6A8):c.1394_1399del:p.Gly465_Met467delinsVal	coding	Pathogenic
X	153694529	GCAGGAGCTGACCGCTT	G	G153694532T	SLC6A8	NM_005629.4(SLC6A8):c.1496-1_1510del	noncoding	Pathogenic
X	153694551	ACGACATTGCCTGTATGATCGGGTAC	A	A153694556C	SLC6A8	NM_005629.4(SLC6A8):c.1519_1543del:p.Ile507fs	coding	Pathogenic
X	153694584	GC	G	C153694588T	SLC6A8	NM_005629.4(SLC6A8):c.1551del:p.Trp518fs	coding	Pathogenic
X	153694652	G	GGGGCAGGGCGGGGGGCGAGGCA	G153694679A	SLC6A8	NM_005629.4(SLC6A8):c.1596+24_1597-41dup	noncoding	Benign
X	153696344	TCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGCCATGGGTGCTGAAATTTTCAAAATGTTACCCCAAGAATTTGTCACTGAACAGGTGCCTTGTGTCACTTGGGCCAGGCTGGTAGCAGCAGAGGGGATAACTCTGCATCAGGGATCAATTTTGAAGGTGGAGCCAATAGGGGTTGTGCATGACCAGGATGCAGGGCTCAAAGAGGAGTTAAGGACAACAGATTTGGCCTGAGCAAGAGGAAAGATGGAGCTGCCAGGTCCTGCAATGGGGAGGCAAGGAGAGAATGGTCTGGAGTCAGCCTTGGGTGTGTCATGCAGGAAGTGTCATCCAAGTGGAGATGTCTAGTTGGCAGGTGGACACAGGAGTTCCAGAAAGTACTGGAGATGGAACTGTGCAAGTTCTTACCACATAGAGATGACACTGAAAGCCCTGAGCCTGAGTGAGCTCACAGGGACGCCGCAAGCCCCGGAACACAATGAGAGGGGCAGAGCGAAGACGTGGCAGTGATAGGGGAGGACGCCTGAGAGTTCCTGGTGGGGTCCTGCAACCTGAGCCAGTGAGGACCCCTCACAGGTCAGGGAGGAGCAGTGGCTGGCTCCATCTGTCCAGTGCTGCTGCTGGTGAAGGACAGTGACCTGCAAATGCTCACTGAGTCTGGCAAGGGTCACGGGGGCCTGGCGAGGGTGGCTTGCATGAGCGGGTGCGTGTGAAAGGCTGGGTGGTGTGCGACTGAGAAAAGGAGTGGCGGCAGCGCAGTGTCATCTGCAGACGAAGGGAGAGACAACAACGTAGTTCACCCAGACAAGGAAATATGAGCCAGCCTGGAAAGGGAAGGCATTCCAACACACGACACAACATGGCTGACCCTGGAGGGCATTTCTGTGAAATGAGCCATCATAAAGGGATACTTGCTATAGGGTTCTGCTCCTGTGAGAGAGACAGGGCCTTACATGAGAGGAGGGAGATCCACAGAGACAGAGGGCAAGGGTGGGTGCCAGGGGCTGGGGACAGGGTGGGGAGTGTTGAGTGGGGACAGAGTGTCAGTTTGAGAAAATAAATTCTAGAGGTGGATGGAAGTGGTGGCTGCGCAACACTGTGACTGCACTTAATGCCACTGAATTGCACATTTAACGATGGTGAAAATGGCTCATTACATATACACTGATGACACTATATATATGTATGATATATATGCGTTTTACCATGAGAAGAGGTGGAGAGGAATTGGAGACACTGAGTACAGACAGGTCCTTCAACGGGCGGGACCCCGTGCACAAGATGAGCATGTGGCACCCCACCCTCAAAGGGCTGGGCACCATGGCAGGGCACAGCAGGCAATGCAGTGGGCGGCTCAGGCAAGCACAGAGAGCATCAGAGATTGGAGCCTGTGAAGGGGGAGCAGGTGACCCCTCAGAGCAAAGTGACAGCTTGGGCTGCTCCCTTTGCGTCCTGCCCAGGACTGCTATCGTGCTATGGGAGAACCCCCAGAGGCCCTGCTCCTCAGCAGGCAGCACCCCCTATGGAGGGGCTTTACCCCTAAACTTCTGGAGCCAGGGGAGGGACCTGGCTTGGAATACGGCCAACCAAGAGCCTGGGTGAGAAATACACGGACCAGACAGGGAGCAGAGAAAGGAGTGGCAGTGCAGTCCCACCCTAGCTCAGCCAGGGGCTCTGGAGCCTGTCCTGCAGTCCCTGGCCCCCATCTCTTCAGCAACCGCTGTTTCCAGTTTTCTTTTTCTCCCTGAGAAGCCTGTCCTCTCACCATGCCTGCGCCTTCAAGAACCCCGCCTGCTGGCAGCTCCCACATCTCCGGCCTGGCCCTCCTTAGCTGCAAAGGTGCTTCCCAACATCAGCAAGACCTCTCCCCAGGGTGCCCCAGGCCCTCACACAGCCCCTGTCCCCAACCGACTCCAACTGTCCTGCAGCCCACAGTCACCCTCAGGACCCCTGAGCTCAGGCCAACTGCTTTATACACTGTCAGCCAAGTCTCTGCCTGGATGACAATCACCCTCTGCTAATTGTTCTCCGCACCTCCAGGCCAAATGCCCTCCAAGCCACCTCATGCACCACGATGACACTAAACACACAGAAAAAAGACATTGAAAAAAGGAAACTTCACAGAGGCCTGTCACTTAAAGAGGGTCCTGAAATAGAGACACCATTTCCTCAGGACTTAGCTCCTGCATCAGGGGTTAGGACACAGAGATCAACAAGCAGCAGGCTTTGCCCTCAAGCAGCTCGCAGTCTAGTGGAAGATGGGTAAGAAAACAGATCAGGACGCCCACGGGTGCAGATGCCCTGGAACAGAAGCTGATCCAGGAAGGCGCGAGCCTGCAGGCCGCCCTCCAGTCTAGGCTGGGCAAGCACCTCAATTTTCATCTCTAAGAGCCTGTGCCCACACCCCCTGCCCCGTTGTTGTTCCATCACTCCACTAGAAAGGGCGCTCCAGAAGCTGGCCTCGTGCAGCTTTCTGTCTGCTGCTGGCCTAGGCAGAACAGCGGAAGAAGCCATCAGGGCTGGTGAGGGAAGCACCCGTTTGGACTTTAGCCTTTCAAAGCTCAGAGAAGGGTGAGCTCAGGGAGGTCCAAGGTAGCTGAGAGCACTTCCTGGAAAAGTGGGATCAGCCTTCGGCCTTGGCACAGCAACCAGAGGGTATCGCCCACGTGTCCCCTACTCCCTCAGACACCACCTCTCAGACCGCCTGGAAAGGGACAGAACTCGTCATGAGGCGGCTGTGCTCTGAGCACAAGGGAAGGGCGACAGGATGCTAGAGAAGGGAACCACTGGCCTGGGCCCGGACAGGGCAGGCAGAAGCGAGCATGCACAGCAGGCCGTCAGCTACCCTGCCAGCATCAACATCCTTCAGGGGTCCCCCCAGTTCCAGGAGACACACCTCTAACCTGCTCCCCTGACCCTTCCGCCCAGTCCTCATGCAGACACCAGGCATGGCAGAGGCCCTGCAGGGTGGAAGCACTGTGCTGCGGGCGGGGGCTGCCTTCCTCATGTGCTACTGGAGAGTAGCACAGTGCAGGGGCCTGGGCACTGGTGCCAGGCAGGAAGCCCCGGTACTGGCCTGGCTTGCTGTGGGCCTGGAAGACACAGCTCTGAGGGAGCCACGGGAGGGACACCCTGGAGCCAGCACAGCGCTCTGGTGGCAGGCACACACCCAGCACGTTCTCAGGGCCAAGGGCCCCAGCCCATTCCCAGCCCCTTTCTGCCTAGCTCTGCCCTGGGCCAGCTCCAGGTCACTGCCAAGGACAAGTCTCCTCTCCCAGCTGGCATTAGTCAGAGGTCATCCTGCAAACCTTCGGGGGGGGGGGCAGGGAGTGACTAGTGGCGTTCTGCCACGTTCTGTCTGTCCCAAATGTGACGAACAGGAACCCAGAGAAGGCAAGCGAGTCCTCTACCCGGAAGCCCCGCCGGTTTACTGAGCCTCCCAAGCTGCCCACACCCAGGGAGGCAGACAGGACACACACTCGGCGGGTGGCCCTGAAGCGAGGCCTGGCCCAGCCCGGGGAGCAGGAGGACAGAGAGGGCAAGGCCTTCGAGAACAGGTGTGAGCCTGGCCTTCAGTGGGGGAAACAGGTTGAAGGGCTGTGGCCGCTTGGGGGCTCCAGGCAGGAGAGAAAGCAGAGCCCTCCCCACAGCTGCAGTCACACACCGCACCACGTACACACCATGACAACTTTTATTGCCCTCAAGAGAAACTCCAGTCCACCTGCTCCACCCACCCTCCTGCGGGACCAAAGAAAACACCCAGAGGGCAAAACAAAAAGGGGCTCAAACCAACAGGAAGTCAGCCCCACCGCAAGCCGGACTACAACTAACTCGTGCTCTCCACGCTCAGGCGTGGAAGCCAAGGCTGTGCCAGGCCTGGCCAGGCCAAGCAGGATGACAGCAAACGCATTCTGAACGTGTAGCAATCAGGTCCCCTGTAATGTGCTTGGAGAGTGTGGACAAGGGCCGAGATGACGAGCTATGAGCTGTGGAAGGGAATGGGGGAAGCAGAAGGGCACAAACAGAAGTACTGGAGGGAGAGGCCGGGCTCTCAGGAAGCAGCAGGCACGTGCCAGGTGGAAGCCAGCTGCAGGCAGGGGAGGAAGGAGGCCCTTACTCTTCCTTCTTGTCCATGGGACCATCTACTGCAGCCTGGAAAGGGACAGAAATCCCACAGCAGTAGGTTGGCCGGGTCCACTCCTCCCCTGCCACCTCCAGCCCCATGCCCCAGAGGTCCACCTCGGTTCCCCTCTCTCCTAACAACAGCTATTCAAGTGAACAAGGGGCCCCCTCCCCAGCTGCACCCAAAGGCCTGCCAGGGTGGGAGCGTCAGCCCTGGCCCACGCTCTAGGGAAAGCCCTGGACCTAACGCCAGCCAGGGAGGACTGCCAGGACCTCACTGGGGGCTGAGTCCTGGCTGCAGGGAACAGCAAGGCATCCAGTCCCCTTCAAGACCTGATCAGACCCTTCCCAACTCTGCACACCTTTGACAGGTGCCCTCGAAGCCCATCTGCCAAGCCTGCCCCATACAGAGGGCATGGGTGCCCCCTTTGAGGCTGGACCCTTCCTCCCCACCTGCTGTGGTGCCCAAACTTGGGCCACCAAGCACTGAGGCCAGCTGTCCAAAGTTAGGAGTATTTATGTGGCCCTCACTCCCAACGTCAAGACCGCCTGGGCTTCCAGATGCGGCCTGGTGCACCCAAGCTAGTCTGAGGACTCAGATCAGGCCTAGGGCAGCAGGTGATGGCCACAACTAGCGCCTGCTAGGGAAGGTGCCTTTTTGACACCTTGTGCCCTCACTTGCCCAGGGATCTTTGCCCTACGTCACTCCCCAGCACCCTAGGAAAGAAGGCCAGCAGTGGGTCC	T	C153696346A	BCAP31	NC_000023.11:g.153696346_153701690del	noncoding	Pathogenic
X	153701109	GC	G	C153701114T	BCAP31	NM_001256447.2(BCAP31):c.703-135del	noncoding	Benign
X	153703306	GCCCTGGCCCCTGGC	G	C153703323T	BCAP31	NM_001256447.2(BCAP31):c.478-276GCCAGGG[2]	noncoding	Benign
X	153715454	AG	A	G153715460A	BCAP31	NM_001256447.2(BCAP31):c.341+87del	noncoding	Benign
X	153724012	T	TTG	A153724014G	BCAP31	NM_001256447.2(BCAP31):c.-45+321_-45+322insAC	noncoding	Benign
X	153724014	AC	GTAA	A153724014G	BCAP31	NM_001256447.2(BCAP31):c.-45+319_-45+320delinsTTAC	noncoding	Benign
X	153725273	GTGCTC	G	G153725275C	ABCD1	NM_000033.4(ABCD1):c.9_13del:p.Leu4fs	coding	Pathogenic
X	153725284	GC	G	C153725288G	ABCD1	NM_000033.4(ABCD1):c.22del:p.Arg8fs	coding	Pathogenic
X	153725297	C	CG	A153725303G	ABCD1	NM_000033.4(ABCD1):c.36dup:p.Asn13fs	coding	Pathogenic
X	153725364	AC	A	C153725368T	ABCD1	NM_000033.4(ABCD1):c.102del:p.Leu35fs	coding	Pathogenic
X	153725368	CT	C	T153725370G	ABCD1	NM_000033.4(ABCD1):c.104del:p.Leu35fs	coding	Pathogenic
X	153725429	C	CA	G153725431A	ABCD1	NM_000033.4(ABCD1):c.164dup:p.Glu56fs	coding	Pathogenic
X	153725579	ACCTT	A	T153725583G	ABCD1	NM_000033.4(ABCD1):c.317_320del:p.Phe106fs	coding	Pathogenic
X	153725689	CCT	C	T153725691C	ABCD1	NM_000033.4(ABCD1):c.425_426del:p.Leu142fs	coding	Pathogenic
X	153725851	GTC	G	C153725855G	ABCD1	NM_000033.4(ABCD1):c.589_590del:p.Leu197fs	coding	Pathogenic
X	153725933	GCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTA	G	C153725934G	ABCD1	NM_000033.4(ABCD1):c.668_900+291del	coding	Pathogenic
X	153725961	CG	C	G153725963C	ABCD1	NM_000033.4(ABCD1):c.697del:p.Ala233fs	coding	Pathogenic
X	153726050	TCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGG	T	C153726054G	ABCD1	NM_000033.4(ABCD1):c.788_820del:p.Pro263_Ala273del	coding	Pathogenic
X	153726061	CG	C	G153726065A	ABCD1	NM_000033.4(ABCD1):c.799del:p.Glu267fs	coding	Pathogenic
X	153726093	A	AG	A153726099G	ABCD1	NM_000033.4(ABCD1):c.832dup:p.Glu278fs	coding	Pathogenic
X	153726152	TA	AG	T153726152A	ABCD1	NM_000033.4(ABCD1):c.886_887delinsAG:p.Tyr296Ser	coding	Pathogenic
X	153729221	AC	A	C153729227G	ABCD1	NM_000033.4(ABCD1):c.901-5del	noncoding	Benign/Likely_benign
X	153736198	AACCTCCTG	A	C153736201A	ABCD1	NM_000033.4(ABCD1):c.1171_1178del:p.Leu391fs	coding	Pathogenic
X	153736211	CG	C	G153736213C	ABCD1	NM_000033.4(ABCD1):c.1183del:p.Ala395fs	coding	Pathogenic
X	153736442	A	AGGAC	C153736448G	ABCD1	NM_000033.4(ABCD1):c.1324_1327dup:p.Ala443fs	coding	Pathogenic
X	153736484	T	TC	G153736487C	ABCD1	NM_000033.4(ABCD1):c.1366dup:p.Arg456fs	coding	Pathogenic/Likely_pathogenic
X	153737192	GA	G	A153737193G	ABCD1	NM_000033.4(ABCD1):c.1430del:p.Glu477fs	coding	Pathogenic
X	153740101	GGCATGCATCT	G	A153740104T	ABCD1	NM_000033.4(ABCD1):c.1501_1510del:p.Met501fs	coding	Pathogenic
X	153740593	TC	T	C153740596T	ABCD1	NM_000033.4(ABCD1):c.1657del:p.Leu553fs	coding	Pathogenic
X	153742996	CTA	C	A153742998G	ABCD1	NM_000033.4(ABCD1):c.1792_1793del:p.Met598fs	coding	Pathogenic
X	153743023	CG	C	G153743026T	ABCD1	NM_000033.4(ABCD1):c.1820del:p.Gly607fs	coding	Pathogenic
X	153743026	G	GTGGCGAGAAGCAGAGAATCGGCA	C153743054G	ABCD1	NM_000033.4(ABCD1):c.1825_1847dup:p.Met618fs	coding	Pathogenic
X	153743286	TC	T	C153743288A	ABCD1	NM_000033.4(ABCD1):c.1933del:p.Gln645fs	coding	Pathogenic/Likely_pathogenic
X	153743317	G	GCT	C153743323T	ABCD1	NM_000033.4(ABCD1):c.1966_1967dup:p.Ile657fs	coding	Pathogenic
X	153743342	C	CT	G153743344T	ABCD1	NM_000033.4(ABCD1):c.1988dup:p.Trp664fs	coding	Pathogenic
X	153743344	G	GT	G153743346T	ABCD1	NM_000033.4(ABCD1):c.1990dup:p.Trp664fs	coding	Pathogenic
X	153743524	A	AG	C153743528G	ABCD1	NM_000033.4(ABCD1):c.2030dup:p.Gly678fs	coding	Pathogenic
X	153797531	AGGTGAGG	A	T153797534C	SSR4	NM_006280.3(SSR4):c.261+2_261+8del	coding	Pathogenic
X	153798314	TCTC	T	C153798317T	SSR4	NM_006280.3(SSR4):c.418-12_418-10del	noncoding	Benign
X	153864035	G	GC	G153864042C	L1CAM	NM_001278116.2(L1CAM):c.3323-24dup	noncoding	Benign/Likely_benign
X	153866312	CA	C	A153866327G	L1CAM	NM_001278116.2(L1CAM):c.2431+336del	noncoding	Benign
X	153866312	C	CA	G153866328A	L1CAM	NM_001278116.2(L1CAM):c.2431+322dup	noncoding	Benign
X	153868136	GTGTC	G	G153868142T	L1CAM	NM_001278116.2(L1CAM):c.1704-18_1704-15del	noncoding	Benign
X	153870835	T	TGGTGC	C153870841G	L1CAM	NM_001278116.2(L1CAM):c.644_648dup:p.Arg217fs	coding	Pathogenic
X	153870867	TC	T	C153870868T	L1CAM	NM_001278116.2(L1CAM):c.616del:p.Asp206fs	coding	Pathogenic
X	153904993	G	GC	A153904994C	AVPR2	NM_000054.7(AVPR2):c.-153_-152insC	noncoding	Benign
X	153906188	A	AC	T153906189C	AVPR2	NM_000054.7(AVPR2):c.682_683insC:p.Ile228fs	coding	Pathogenic
X	153906238	T	TG	C153906245G	AVPR2	NM_000054.7(AVPR2):c.738dup:p.Arg247fs	coding	Pathogenic
X	153906274	C	CG	T153906277G	AVPR2	NM_000054.7(AVPR2):c.770dup:p.Gly257_Glu258insTer	coding	Pathogenic
X	153906312	CTG	C	T153906315A	AVPR2	NM_000054.7(AVPR2):c.809_810del:p.Val270fs	coding	Pathogenic
X	153915223	A	AG	C153915227G	ARHGAP4	NM_001666.5(ARHGAP4):c.1033-1347dup	noncoding	Benign
X	154030360	TGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCA	T	T154030362G	MECP2	NM_001110792.2(MECP2):c.1209_*6del:p.Glu404fs	noncoding	Pathogenic
X	154030529	TGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTC	T	G154030530A	MECP2	NM_001110792.2(MECP2):c.808_1334del:p.Glu270fs	coding	Pathogenic
X	154030535	C	CT	G154030538T	MECP2	NM_001110792.2(MECP2):c.1328dup:p.Glu444fs	coding	Pathogenic
X	154030585	CTT	C	T154030587G	MECP2	NM_001110792.2(MECP2):c.1277_1278del:p.Lys426fs	coding	Pathogenic
X	154030586	TTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGC	T	T154030587C	MECP2	NM_001110792.2(MECP2):c.63-1928_1277del	coding	Pathogenic
X	154030595	G	GC	T154030597C	MECP2	NM_001110792.2(MECP2):c.1268dup:p.Ser423fs	coding	Pathogenic
X	154030599	CTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT	C	C154030602G	MECP2	NM_001110792.2(MECP2):c.1165_1264del:p.Lys389fs	coding	Pathogenic
X	154030611	TGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGG	T	G154030615T	MECP2	NM_001110792.2(MECP2):c.1120_1252del:p.Pro374fs	coding	Pathogenic
X	154030611	TGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGG	T	G154030614C	MECP2	NM_001110792.2(MECP2):c.1197_1252del:p.Pro400fs	coding	Pathogenic
X	154030616	CTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGG	C	T154030617C	MECP2	NM_001110792.2(MECP2):c.337_1247del911:p.Pro113fs	coding	Pathogenic
X	154030621	GGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTT	G	G154030629C	MECP2	NM_001110792.2(MECP2):c.1090_1242del:p.Lys364_Pro414del	coding	Pathogenic
X	154030626	CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGG	C	T154030630G	MECP2	NM_001110792.2(MECP2):c.1201_1237del:p.Pro401fs	coding	Pathogenic
X	154030626	CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGA	C	G154030633T	MECP2	NM_001110792.2(MECP2):c.1143_1237del:p.His381fs	coding	Pathogenic
X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG	T	G154030634A	MECP2	NM_001110792.2(MECP2):c.1191_1236del:p.Leu398fs	coding	Pathogenic/Likely_pathogenic
X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGA	G	G154030633T	MECP2	NM_001110792.2(MECP2):c.1153_1235del:p.Ser385fs	coding	Pathogenic
X	154030629	GTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGA	G	G154030633T	MECP2	NM_001110792.2(MECP2):c.1143_1234del:p.His382fs	coding	Pathogenic
X	154030630	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG	T	T154030635C	MECP2	NM_001110792.2(MECP2):c.1199_1233del:p.Pro400fs	coding	Pathogenic/Likely_pathogenic
X	154030632	GGGTCCTCGGAGCTCTCGGGCTCAGGTGGA	G	C154030636G	MECP2	NM_001110792.2(MECP2):c.1203_1231del:p.Pro402fs	coding	Pathogenic
X	154030632	GGGTCCTCGGA	G	G154030634C	MECP2	NM_001110792.2(MECP2):c.1222_1231del:p.Ser408fs	coding	Pathogenic
X	154030633	GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG	CT	G154030633C	MECP2	NM_001110792.2(MECP2):c.1195_1231delinsAG:p.Pro399fs	coding	Pathogenic
X	154030636	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGGAAATGACGAAGAACCCTGGAAAGCTAGGTGTGGCCTGTTGCCCACCAGAGATCAGCCTTTGAGAATGGACCCCTAGGCAGCTCCCCAGCTCCCCATAAAGGAGGGAGGGAAGGGGAGCCACCAGCAGAGTGGGCCAAGAAAGCAGACAGATGGGAATCGCTACTTCTACACAATCCATCATGGCACTGCCTAACGCCAGGGCTGCTCCCTAGAACCCGGACGGTCCTAATGTCAGAGAAAAACAGTGAACTAATGGGAAAGATCTGGCTTCTTCGAAACTCTCATTTGCATTTCCCAAATACCTTAATCACCATGAGGTCAAACTATAAACCTAAACGTGACGTAAGGAATGCCTTCTAGAAATCTATGCTAAAGAGACACCTCCAGAAATCTCAAAGAACATATGCATGATGTTATTTGCTACAACATTATTTTTACCAGCCAAAGGCTTCCAATACCCCCGATCCCTATCACCAGGGCACTTGCTGAATAAACTTATGGTGCGCCCACACACTGGAGTACTGTGCAGATCCAAAGGGACTAAACAAGAGCTCTAAGAACTGCGATGGAGTCATTTCCAGGATCCACTGTGAAGCAAAGGGAGCAAAGCGCAAACATATCTACTGCATTCTACCAAAGAAAGAAGGGGGGGTATTAAGGAAGGACACACCAGGAACTAATGAAATTGATTCCCTGCATGGGGTAGGGGGAAAAAGGTAAGGGTACAGGCACAGGAGTGAGGCCTAGCTGAACATGCCTCAGTGTAATTCTGACTTCTGAATCATGTAAATGTTTATATTACCCAAAATAAAATTCAAACTAAAAGTAACAAAACCTTATTACACTTAATGCAAATAAAAACAAATGAGTTCGGGCCAGGCATGGTGGCTTCAGCCTACGATCCCAGCACTTTGGGAGGCCGAGGCGGGTCGATCACCTGAGGTCAGGAGTATGAGGCTGCAGTGAGCCATGACTACATCACTGCACTCCAGCCTGAGTGACAGAGCAAGACCCTGTCTCTCTCTCTCTCTTTTTTTTTTTTTGAGACAGAGTCTTGCTAGAGTGCCATGGCGTGATCTTGGCTCACTGCAACCTCCGACTCCTGAGTTCAAGCCTTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTACCTGCCATCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAATTCCTGACCTCAGGCGATCCACCCACCTTGGCTTCCCAAAGTGCCGGGATTACAGGCATGAGACACCACGCCTGGCCAAGACCCTGTCTCTTAAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAAGAAACAAATTTAATTCTATATCAAATTGACAATATACCACAGAGAAAAGATTTATTTCAAATGACTTTTGACTACAGTGCTCTGCAAACCTGTAGTGGGACATATTCTAAGGCCAACAATAACACTCCAGGGGCAGTAAACACACTAGATTGGCTCCCAGGAGAGATATGTGATTCTGCTTCTGGGGCATCTTGTGCCAGAAAGCCCGGGGAGTGCAAGAGAAAAACAGGGAGGGCCCATGAGAGGCCTCTAGCAGTGGTCCAGGTGTGGCCCAGGGTGGGGGCAGTTGAGGATTTGGGGCTGGTCTAGGTGGTGAAGCAACAGAGCTCGCAGGTGGATTAGTGTGGGGGTGAGGGGCAAGGGTGAGTCAGGGACCATGTCCAAAGCCTGGGAAGATGGTGGTGCCACTGATTGAGAAGGAAAAGACTGAGGGGCCGGCTGGGTGCAGTGGCTCTCACCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCTGGAGTTCGAGCCCAACCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATGAGCCGGGCGTGGTGGCAGGTGCCTGTAAGTCCCAGCTACATGGAAGGCTGAGGGAGAAGAATCGCCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATCGCAAGACTCCGTCTCAAAAAAACAAAAACAAAAACAAAACCACTGGAGCGGCAGGGGAGCAACACCCACAGAGACAGTTATACCATCAAGGAGAGAAAACAGTTCTTCAGCTACTCGCTAGAAAGGGGGGAAACCCCGCTGTGATCAGATTCTGAGTTGGGCCTGAATGAAAATGAACTGTCTGCTTGGGGTTTTAAAGGCTTTTTATTGTGGTAAAATATACAAAACAGGTCAGGTGTGGTGGCTTACACTTGTAATCCCAGCACTTTGGGAGGTGAGGCAGGTGGATCGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAAACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCTAGGAAGTTGAGGCTGCAGTGAGCCGTTGATCATGCCACTGCACTCCTGCCTGGGCGAACAAACCAGACACATATATGTCTCAAAAAAAAATACATATATATATATATATATATATATATATATATATATATATATACACACACACACAAAACAAAGTTTACCTTTTTAACTATTTCTAAGTGTACAATGAATGAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCATGCTGGGGTGTGGTGGCGCAATCTCGGCTTACTGCATACAGGCTCTGCCTCCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGATGCGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTGGGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCTGGCCCTAAATGAACTTTTAAGAGCACTGAAGATGGGAAATAAAGGGTCTTTAACTCTACTGTAATATTCTAGTTCTTTCTAATGGAAATTACTTGAAGCAAATATAGTATGATGATTTTCAATTCTGTGCAATGAAAGGCACATGGGTGTTTGTTAATTTGCTGGCTGCTACTTTTATAATTAAAGACAAATTTCAAAAAACCCACAAAGAAGCCTGGATTGTGCTGGGTGTGGAGTGCAGGTAAAAATGATAAAAAACGTGGATGGAGCTGGAGTCCATTGTCTTCAGTGACACAGCTCAGACACAGAAAGTCAAATACCGTACGTTCTCACTTAGAAGCAGGAGCTGAATAGCATGTGCACATGGACAGAGTGAGGAATGGCAGACACTGGAGAGACTGGGAAGGGTGGGAGGGGGTGAGGGATGAGACATTACTTAACGGGTACAATGTCCACTATTCAGGTGATGGTTACACTGAAAGCTCAGACTTCACTACTATACAATATATCCACGCAACAAAACTGCACTTGTACCCTTTAAATTTAACAAATAAAAAACAATGATAGAAAACAGGTATTCCAAATGAGTTTACCCTTAGCCCAGAGGGCCTGCCCAGTCCCAGGGTGACCTGGGCATTTGCACACCCTCACTAAGCCTTCACTGCAGGACCCAAGGGAGGGAGGCTGGGCTAGGGTGCCAGGTGACTCCCCAAGGCTGTCCCCCAGGGGGTTTATGGTGTTTGCCGAAACACAAACTTTTTCAAAGAAACCTGCCAGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAACCGAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAACAAACAAACAAACAGAAAACAAAACAAAAAAAACCCCATACACCTCTCTTCATCCTCCCTCTAATCAGAACCCCCCACACACACACAATCTTGATTATGAGGAGAACTAAATAGCTAGTTCACAAGTTCATACATTTTACAGTTGAAGTATCCTCAGAAAAA	C	T154030638C	MECP2	NM_001110792.2(MECP2):c.63-6214_1227del	coding	Pathogenic
X	154030638	TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGC	ACCACCATCACCACCACTCAGAGT	T154030638A	MECP2	NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT:p.Arg366_Glu409delinsLeuTer	coding	Pathogenic
X	154030639	CGGAGCTCTCGGGCTCAGGTGGAGGT	C	A154030642G	MECP2	NM_001110792.2(MECP2):c.1200_1224del:p.Pro401fs	coding	Pathogenic
X	154030643	GCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGGAAATGACGAAGAACCCTGGAAAGCTAGGTGTGGCCTGTTGCCCACCAGAGATCAGCCTTTGAGAATGGACCCCTAGGCAGCTCCCCAGCTCCCCATAAAGGAGGGAGGGAAGGGGAGCCACCAGCAGAGTGGGCCAAGAAAGCAGACAGATGGGAATCGCTACTTCTACACAATCCATCATGGCACTGCCTAACGCCAGGGCTGCTCCCTAGAACCCGGACGGTCCTAATGTCAGAGAAAAACAGTGAACTAATGGGAAAGATCTGGCTTCTTCGAAACTCTCATTTGCATTTCCCAAATACCTTAATCACCATGAGGTCAAACTATAAACCTAAACGTGACGTAAGGAATGCCTTCTAGAAATCTATGCTAAAGAGACACCTCCAGAAATCTCAAAGAACATATGCATGATGTTATTTGCTACAACATTATTTTTACCAGCCAAAGGCTTCCAATACCCCCGATCCCTATCACCAGGGCACTTGCTGAATAAACTTATGGTGCGCCCACACACTGGAGTACTGTGCAGATCCAAAGGGACTAAACAAGAGCTCTAAGAACTGCGATGGAGTCATTTCCAGGATCCACTGTGAAGCAAAGGGAGCAAAGCGCAAACATATCTACTGCATTCTACCAAAGAAAGAAGGGGGGGTATTAAGGAAGGACACACCAGGAACTAATGAAATTGATTCCCTGCATGGGGTAGGGGGAAAAAGGTAAGGGTACAGGCACAGGAGTGAGGCCTAGCTGAACATGCCTCAGTGTAATTCTGACTTCTGAATCATGTAAATGTTTATATTACCCAAAATAAAATTCAAACTAAAAGTAACAAAACCTTATTACACTTAATGCAAATAAAAACAAATGAGTTCGGGCCAGGCATGGTGGCTTCAGCCTACGATCCCAGCACTTTGGGAGGCCGAGGCGGGTCGATCACCTGAGGTCAGGAGTATGAGGCTGCAGTGAGCCATGACTACATCACTGCACTCCAGCCTGAGTGACAGAGCAAGACCCTGTCTCTCTCTCTCTCTTTTTTTTTTTTTGAGACAGAGTCTTGCTAGAGTGCCATGGCGTGATCTTGGCTCACTGCAACCTCCGACTCCTGAGTTCAAGCCTTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTACCTGCCATCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAATTCCTGACCTCAGGCGATCCACCCACCTTGGCTTCCCAAAGTGCCGGGATTACAGGCATGAGACACCACGCCTGGCCAAGACCCTGTCTCTTAAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAAGAAACAAATTTAATTCTATATCAAATTGACAATATACCACAGAGAAAAGATTTATTTCAAATGACTTTTGACTACAGTGCTCTGCAAACCTGTAGTGGGACATATTCTAAGGCCAACAATAACACTCCAGGGGCAGTAAACACACTAGATTGGCTCCCAGGAGAGATATGTGATTCTGCTTCTGGGGCATCTTGTGCCAGAAAGCCCGGGGAGTGCAAGAGAAAAACAGGGAGGGCCCATGAGAGGCCTCTAGCAGTGGTCCAGGTGTGGCCCAGGGTGGGGGCAGTTGAGGATTTGGGGCTGGTCTAGGTGGTGAAGCAACAGAGCTCGCAGGTGGATTAGTGTGGGGGTGAGGGGCAAGGGTGAGTCAGGGACCATGTCCAAAGCCTGGGAAGATGGTGGTGCCACTGATTGAGAAGGAAAAGACTGAGGGGCCGGCTGGGTGCAGTGGCTCTCACCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCTGGAGTTCGAGCCCAACCTGGCCAACATGGTGAAACTCCGTCTCTA	G	C154030646A	MECP2	NM_001110792.2(MECP2):c.63-3928_1220del	coding	Pathogenic
X	154030648	CGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGG	C	T154030653C	MECP2	NM_001110792.2(MECP2):c.1172_1215del:p.Pro391fs	coding	Pathogenic
X	154030659	GGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGGAAATGACGAAGAACCCTGGAAAGCTAGGTGTGGCCTGTTGCCCACCAGAGATCAGCCTTTGAGAATGGACCCCTAGGCAGCTCCCCAGCTCCCCATAAAGGAGGGAGGGAAGGGGAGCCACCAGCAGAGTGGGCCAAGAAAGCAGACAGATGGGAATCGCTACTTCTACACAATCCATCATGGCACTGCCTAACGCCAGGGCTGCTCCCTAGAACCCGGACGGTCCTAATGTCAGAGAAAAACAGTGAACTAATGGGAAAGATCTGGCTTCTTCGAAACTCTCATTTGCATTTCCCAAATACCTTAATCACCATGAGGTCAAACTATAAACCTAAACGTGACGTAAGGAATGCCTTCTAGAAATCTATGCTAAAGAGACACCTCCAGAAATCTCAAAGAACATATGCATGATGTTATTTGCTACAACATTATTTTTACCAGCCAAAGGCTTCCAATACCCCCGATCCCTATCACCAGGGCACTTGCTGAATAAACTTATGGTGCGCCCACACACTGGAGTACTGTGCAGATCCAAAGGGACTAAACAAGAGCTCTAAGAACTGCGATGGAGTCATTTCCAGGATCCACTGTGAAGCAAAGGGAGCAAAGCGCAAACATATCTACTGCATTCTACCAAAGAAAGAAGGGGGGGTATTAAGGAAGGACACACCAGGAACTAATGAAATTGATTCCCTGCATGGGGTAGGGGGAAAAAGGTAAGGGTACAGGCACAGGAGTGAGGCCTAGCTGAACATGCCTCAGTGTAATTCTGACTTCTGAATCATGTAAATGTTTATATTACCCAAAATAAAATTCAAACTAAAAGTAACAAAACCTTATTACACTTAATGCAAATAAAAACAAATGAGTTCGGGCCAGGCATGGTGGCTTCAGCCTACGATCCCAGCACTTTGGGAGGCCGAGGCGGGTCGATCACCTGAGGTCAGGAGTATGAGGCTGCAGTGAGCCATGACTACATCACTGCACTCCAGCCTGAGTGACAGAGCAAGACCCTGTCTCTCTCTCTCTCTTTTTTTTTTTTTGAGACAGAGTCTTGCTAGAGTGCCATGGCGTGATCTTGGCTCACTGCAACCTCCGACTCCTGAGTTCAAGCCTTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTACCTGCCATCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAATTCCTGACCTCAGGCGATCCACCCACCTTGGCTTCCCAAAGTGCCGGGATTACAGGCATGAGACACCACGCCTGGCCAAGACCCTGTCTCTTAAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAAGAAACAAATTTAATTCTATATCAAATTGACAATATACCACAGAGAAAAGATTTATTTCAAATGACTTTTGACTACAGTGCTCTGCAAACCTGTAGTGGGACATATTCTAAGGCCAACAATAACACTCCAGGGGCAGTAAACACACTAGATTGGCTCCCAGGAGAGATATGTGATTCTGCTTCTGGGGCATCTTGTGCCAGAAAGCCCGGGGAGTGCAAGAGAAAAACAGGGAGGGCCCATGAGAGGCCTCTAGCAGTGGTCCAGGTGTGGCCCAGGGTGGGGGCAGTTGAGGATTTGGGGCTGGTCTAGGTGGTGAAGCAACAGAGCTCGCAGGTGGATTAGTGTGGGGGTGAGGGGCAAGGGTGAGTCAGGGACCATGTCCAAAGCCTGGGAAGATGGTGGTGCCACTGATTGAGAAGGAAAAGACTGAGGGGCCGGCTGGGTGCAGTGGCTCTCACCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCTGGAGTTCGAGCCCAACCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATGAGCCGGGCGTGGTGGCAGGTGCCTGTAAGTCCCAGCTACATGGAAGGCTGAGGGAGAAGAATCGCCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATCGCAAGACTCCGTCTCAAAAAAACAAAAACAAAAACAAAACCACTGGAGCGGCAGGGGAGCAACACCCACAGAGACAGTTATACCATCAAGGAGAGAAAACAGTTCTTCAGCTACTCGCTAGAAAGGGGGGAAACCCCGCTGTGATCAGATTCTGAGTTGGGCCTGAATGAAAATGAACTGTCTGCTTGGGGTTTTAAAGGCTTTTTATTGTGGTAAAATATACAAAACAGGTCAGGTGTGGTGGCTTACACTTGTAATCCCAGCACTTTGGGAGGTGAGGCAGGTGGATCGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAAACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTT	G	G154030663C	MECP2	NM_001110792.2(MECP2):c.63-4487_1204del	coding	Pathogenic
X	154030661	AGGTGGG	A	T154030664C	MECP2	NM_001110792.2(MECP2):c.1197_1202del:p.Pro402_Pro403del	coding	Benign/Likely_benign
X	154030661	AGGTGGGGG	A	G154030662C	MECP2	NM_001110792.2(MECP2):c.1195_1202del:p.Pro399fs	coding	Pathogenic
X	154030664	TGGGGGCAGGGGTGGGAGCAGTGGCAC	T	A154030671C	MECP2	NM_001110792.2(MECP2):c.1174_1199del:p.Val392fs	coding	Pathogenic
X	154030664	TG	T	G154030669C	MECP2	NM_001110792.2(MECP2):c.1199del:p.Pro400fs	coding	Pathogenic
X	154030667	GGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGGAAATGACGAAGAACCCTGGAAAGCTAGGTGTGGCCTGTTGCCCACCAGAGATCAGCCTTTGAGAATGGACCCCTAGGCAGCTCCCCAGCTCCCCATAAAGGAGGGAGGGAAGGGGAGCCACCAGCAGAGTGGGCCAAGAAAGCAGACAGATGGGAATCGCTACTTCTACACAATCCATCATGGCACTGCCTAACGCCAGGGCTGCTCCCTAGAACCCGGACGGTCCTAATGTCAGAGAAAAACAGTGAACTAATGGGAAAGATCTGGCTTCTTCGAAACTCTCATTTGCATTTCCCAAATACCTTAATCACCATGAGGTCAAACTATAAACCTAAACGTGACGTAAGGAATGCCTTCTAGAAATCTATGCTAAAGAGACACCTCCAGAAATCTCAAAGAACATATGCATGATGTTATTTGCTACAACATTATTTTTACCAGCCAAAGGCTTCCAATACCCCCGATCCCTATCACCAGGGCACTTGCTGAATAAACTTATGGTGCGCCCACACACTGGAGTACTGTGCAGATCCAAAGGGACTAAACAAGAGCTCTAAGAACTGCGATGGAGTCATTTCCAGGATCCACTGTGAAGCAAAGGGAGCAAAGCGCAAACATATCTACTGCATTCTACCAAAGAAAGAAGGGGGGGTATTAAGGAAGGACACACCAGGAACTAATGAAATTGATTCCCTGCATGGGGTAGGGGGAAAAAGGTAAGGGTACAGGCACAGGAGTGAGGCCTAGCTGAACATGCCTCAGTGTAATTCTGACTTCTGAATCATGTAAATGTTTATATTACCCAAAATAAAATTCAAACTAAAAGTAACAAAACCTTATTACACTTAATGCAAATAAAAACAAATGAGTTCGGGCCAGGCATGGTGGCTTCAGCCTACGATCCCAGCACTTTGGGAGGCCGAGGCGGGTCGATCACCTGAGGTCAGGAGTATGAGGCTGCAGTGAGCCATGACTACATCACTGCACTCCAGCCTGAGTGACAGAGCAAGACCCTGTCTCTCTCTCTCTCTTTTTTTTTTTTTGAGACAGAGTCTTGCTAGAGTGCCATGGCGTGATCTTGGCTCACTGCAACCTCCGACTCCTGAGTTCAAGCCTTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTACCTGCCATCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAATTCCTGACCTCAGGCGATCCACCCACCTTGGCTTCCCAAAGTGCCGGGATTACAGGCATGAGACACCACGCCTGGCCAAGACCCTGTCTCTTAAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAAGAAACAAATTTAATTCTATATCAAATTGACAATATACCACAGAGAAAAGATTTATTTCAAATGACTTTTGACTACAGTGCTCTGCAAACCTGTAGTGGGACATATTCTAAGGCCAACAATAACACTCCAGGGGCAGTAAACACACTAGATTGGCTCCCAGGAGAGATATGTGATTCTGCTTCTGGGGCATCTTGTGCCAGAAAGCCCGGGGAGTGCAAGAGAAAAACAGGGAGGGCCCATGAGAGGCCTCTAGCAGTGGTCCAGGTGTGGCCCAGGGTGGGGGCAGTTGAGGATTTGGGGCTGGTCTAGGTGGTGAAGCAACAGAGCTCGCAGGTGGATTAGTGTGGGGGTGAGGGGCAAGGGTGAGTCAGGGACCATGTCCAAAGCCTGGGAAGATGGTGGTGCCACTGATTGAGAAGGAAAAGACTGAGGGGCCGGCTGGGTGCAGTGGCTCTCACCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCTGGAGTTCGAGCCCAACCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATGAGCCGGGCGTGGTGGCAGGTGCCTGTAAGTCCCAGCTACATGGAAGGCTGAGGGAGAAGAATCGCCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATCGCAAGACTCCGTCTCAAAAAAACAAAAACAAAAACAAAACCACTGGAGCGGCAGGGGAGCAACACCCACAGAGACAGTTATACCATCAAGGAGAGAAAACAGTTCTTCAGCTACTCGCTAGAAAGGGGGGAAACCCCGCTGTGATCAGATTCTGAGTTGGGCCTGAATGAAAATGAACTGTCTGCTTGGGGTTTTAAAGGCTTTTTATTGTGGTAAAATATACAAAACAGGTCAGGTGTGGTGGCTTACACTTGTAATCCCAGCACTTTGGGAGGTGAGGCAGGTGGATCGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAAACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCTAGGAAGTTGAGGCTGCAGTGAGCCGTTGATCATGCCACTGCACTCCTGCCTGGGCGAACAAACCAGACACATATATGTCTCAAAAAAAAATACATATATATATATATATATATATATATATATATATATATATATACACACACACACAAAACAAAGTTTACCTTTTTAACTATTTCTAAGTGTACAATGAATGAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCATGCTGGGGTGTGGTGGCGCAATCTCGGCTTACTGCATACAGGCTCTGCCTCCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGATGCGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTGGGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCTGGCCCTAAATGAACTTTTAAGAGCACTGAAGATGGGAAATAAAGGGTCTTTAACTCTACTGTAATATTCTAGTTCTTTCTAATGGAAATTACTTGAAGCAAATATAGTATGATGATTTTCAATTCTGTGCAATGAAAGGCACATGGGTGTTTGTTAATTTGCTGGCTGCTACTTTTATAATTAAAGACAAATTTCAAAAAACCCACAAAGAAGCCTGGATTGTGCTGGGTGTGGAGTGCAGGTAAAAATGATAAAAAACGTGGATGGAGCTGGAGTCCATTGTCTTCAGTGACACAGCTCAGACACAGAAAGTCAAATACCGTACGTTCTCACTTAGAAGCAGGAGCTGAATAGCATGTGCACATGGACAGAGTGAGGAATGGCAGACACTGGAGAGACTGGGAAGGGTGGGAGGGGGTGAGGGATGAGACATTACTTAACGGGTACAATGTCCACTATTCAGGTGATGGTTACACTGAAAGCTCAGACTTCACTACTATACAATATATCCACGCAACAAAACTGCACTTGTACCCTTTAAATTTAACAAATAAAAAACAATGATAGAAAACAGGTATTCCAAATGAGTTTACCCTTAGCCCAGAGGGCCTGCCCAGTCCCAGGGTGACCTGGGCATTTGCACACCCTCACTAAGCCTTCACTGCAGGACCCAAGGGAGGGAGGCTGGGCTAGGGTGCCAGGTGACTCCCCAAGGCTGTCCCCCAGGGGGTTTATGGTGTTTGCCGAAACACAAACTTTTTCAAAGAAACCTGCCAGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAACCGAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAACAAACAAACAAACAGAAAACAAAACAAAAAAAACCCCATACACCTCTCTTCATCCTCCCTCTAATCAGAACCCCCCACACACACACAATCTTGATTATGAGGAGAACTAAATAGCTAGTTCACAAGTTCATACATTTTACAGTTGAAGTATCCTCAGAAAAACCACCTATTCAACTCCTGAGTGTTACAGATGGAAAAAAAGAAGTTCGACTAGACAGAGGAACTTGTCTGAGATCACCGTGAGTCAAAAACACACGTGTCTGTTCACCAACTGCCTTCGTCCTGAGCCAGATCCTGCAGCATCCTTCCACCTCCAAGAACTCACAGTTTGGAAGGGAGGACAAATAGGTAACTACAACATAGTTCCAGCCTCCCTTCCCCCTGAAGAAAGCTTGCTCCAGGCACAGCGGAAGCACAGGGGTGTGGATAATGAATCAGGAGTGAGTGGGCTGTCAGGGCTTATGAGTTCCACAGGTGGGACAGAGGGCTCAGGGCATGCCAGGCCAGATGGGCAGAGGCGGCACTATCAACATGGTTATAGCTCCCACCCTATCACCCGTGTGACGCCCCTCCCTCGAGGAAAAAGTGACCAATGATGCCCACCCTGTGTCACCAGAGGCTCTGGGCCTAACCCTGTCACCCCCTCCCACCTTTTCATTTGGAGAACTTTCAGGTTCATCTGGAGAACTTTCATCTTTCAGGTTCAGTTAGGATGGCACTTCTAGACCGGGCGCAGTGGCTCATGCCTGTAATCCCAACACCTTAGGAGGCCGAGGTGAGCAGATCACTTGAGGCCAGGAGTTTAAGACCAGCCTGGCCAACATGGCAAAACTCCGCCTCTACTAAAAATACAAAATATTTGCCGGGTGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCGGGGACTGAGGCATGAGAATCGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTTGAGATAGTGCCATTGCACTCCAGACCAGGCGATAGAACAAGATTCCACTTCCCAAAAAAAAAAAAAAAAAGAT	G	G154030672C	MECP2	NM_001110792.2(MECP2):c.63-7080_1196del	coding	Pathogenic
X	154030672	GGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGA	CGGGGG	G154030672C	MECP2	NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG:p.His382fs	coding	Pathogenic
X	154030677	GGGAGCAGT	G	A154030680C	MECP2	NM_001110792.2(MECP2):c.1179_1186del:p.Leu394fs	coding	Pathogenic
X	154030680	AGCAGTGGCACGGGG	A	A154030683C	MECP2	NM_001110792.2(MECP2):c.1170_1183del:p.Val392fs	coding	Pathogenic
X	154030683	A	AG	T154030685G	MECP2	NM_001110792.2(MECP2):c.1180dup:p.Leu394fs	coding	Pathogenic
X	154030689	ACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGGAAATGACGAAGAACCCTGGAAAGCTAGGTGTGGCCTGTTGCCCACCAGAGATCAGCCTTTGAGAATGGACCCCTAGGCAGCTCCCCAGCTCCCCATAAAGGAGGGAGGGAAGGGGAGCCACCAGCAGAGTGGGCCAAGAAAGCAGACAGATGGGAATCGCTACTTCTACACAATCCATCATGGCACTGCCTAACGCCAGGGCTGCTCCCTAGAACCCGGACGGTCCTAATGTCAGAGAAAAACAGTGAACTAATGGGAAAGATCTGGCTTCTTCGAAACTCTCATTTGCATTTCCCAAATACCTTAATCACCATGAGGTCAAACTATAAACCTAAACGTGACGTAAGGAATGCCTTCTAGAAATCTATGCTAAAGAGACACCTCCAGAAATCTCAAAGAACATATGCATGATGTTATTTGCTACAACATTATTTTTACCAGCCAAAGGCTTCCAATACCCCCGATCCCTATCACCAGGGCACTTGCTGAATAAACTTATGGTGCGCCCACACACTGGAGTACTGTGCAGATCCAAAGGGACTAAACAAGAGCTCTAAGAACTGCGATGGAGTCATTTCCAGGATCCACTGTGAAGCAAAGGGAGCAAAGCGCAAACATATCTACTGCATTCTACCAAAGAAAGAAGGGGGGGTATTAAGGAAGGACACACCAGGAACTAATGAAATTGATTCCCTGCATGGGGTAGGGGGAAAAAGGTAAGGGTACAGGCACAGGAGTGAGGCCTAGCTGAACATGCCTCAGTGTAATTCTGACTTCTGAATCATGTAAATGTTTATATTACCCAAAATAAAATTCAAACTAAAAGTAACAAAACCTTATTACACTTAATGCAAATAAAAACAAATGAGTTCGGGCCAGGCATGGTGGCTTCAGCCTACGATCCCAGCACTTTGGGAGGCCGAGGCGGGTCGATCACCTGAGGTCAGGAGTATGAGGCTGCAGTGAGCCATGACTACATCACTGCACTCCAGCCTGAGTGACAGAGCAAGACCCTGTCTCTCTCTCTCTCTTTTTTTTTTTTTGAGACAGAGTCTTGCTAGAGTGCCATGGCGTGATCTTGGCTCACTGCAACCTCCGACTCCTGAGTTCAAGCCTTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGTACCTGCCATCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAATTCCTGACCTCAGGCGATCCACCCACCTTGGCTTCCCAAAGTGCCGGGATTACAGGCATGAGACACCACGCCTGGCCAAGACCCTGTCTCTTAAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAAGAAACAAATTTAATTCTATATCAAATTGACAATATACCACAGAGAAAAGATTTATTTCAAATGACTTTTGACTACAGTGCTCTGCAAACCTGTAGTGGGACATATTCTAAGGCCAACAATAACACTCCAGGGGCAGTAAACACACTAGATTGGCTCCCAGGAGAGATATGTGATTCTGCTTCTGGGGCATCTTGTGCCAGAAAGCCCGGGGAGTGCAAGAGAAAAACAGGGAGGGCCCATGAGAGGCCTCTAGCAGTGGTCCAGGTGTGGCCCAGGGTGGGGGCAGTTGAGGATTTGGGGCTGGTCTAGGTGGTGAAGCAACAGAGCTCGCAGGTGGATTAGTGTGGGGGTGAGGGGCAAGGGTGAGTCAGGGACCATGTCCAAAGCCTGGGAAGATGGTGGTGCCACTGATTGAGAAGGAAAAGACTGAGGGGCCGGCTGGGTGCAGTGGCTCTCACCTGTAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCTGGAGTTCGAGCCCAACCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATGAGCCGGGCGTGGTGGCAGGTGCCTGTAAGTCCCAGCTACATGGAAGGCTGAGGGAGAAGAATCGCCTGAACCCAGGAGGCAGAGGTCGCAGTGAGCTGAGATCGCAAGACTCCGTCTCAAAAAAACAAAAACAAAAACAAAACCACTGGAGCGGCAGGGGAGCAACACCCACAGAGACAGTTATACCATCAAGGAGAGAAAACAGTTCTTCAGCTACTCGCTAGAAAGGGGGGAAACCCCGCTGTGATCAGATTCTGAGTTGGGCCTGAATGAAAATGAACTGTCTGCTTGGGGTTTTAAAGGCTTTTTATTGTGGTAAAATATACAAAACAGGTCAGGTGTGGTGGCTTACACTTGTAATCCCAGCACTTTGGGAGGTGAGGCAGGTGGATCGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAAACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCTAGGAAGTTGAGGCTGCAGTGAGCCGTTGATCATGCCACTGCACTCCTGCCTGGGCGAACAAACCAGACACATATATGTCTCAAAAAAAAATACATATATATATATATATATATATATATATATATATATATATATACACACACACACAAAACAAAGTTTACCTTTTTAACTATTTCTAAGTGTACAATGAATGAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCATGCTGGGGTGTGGTGGCGCAATCTCGGCTTACTGCATACAGGCTCTGCCTCCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGATGCGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTGGGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCTGGCCCTAAATGAACTTTTAAGAGCACTGAAGATGGGAAATAAAGGGTCTTTAACTCTACTGTAATATTCTAGTTCTTTCTAATGGAAATTACTTGAAGCAAATATAGTATGATGATTTTCAATTCTGTGCAATGAAAGGCACATGGGTGTTTGTTAATTTGCTGGCTGCTACTTTTATAATTAAAGACAAATTTCAAAAAACCCACAAAGAAGCCTGGATTGTGCTGGGTGTGGAGTGCAGGTAAAAATGATAAAAAACGTGGATGGAGCTGGAGTCCATTGTCTTCAGTGACACAGCTCAGACACAGAAAGTCAAATACCGTACGTTCTCACTTAGAAGCAGGAGCTGAATAGCATGTGCACATGGACAGAGTGAGGAATGGCAGACACTGGAGAGACTGGGAAGGGTGGGAGGGGGTGAGGGATGAGACATTACTTAACGGGTACAATGTCCACTATTCAGGTGATGGTTACACTGAAAGCTCAGACTTCACTACTATACAATATATCCACGCAACAAAACTGCACTTGTACCCTTTAAATTTAACAAATAAAAAACAATGATAGAAAACAGGTATTCCAAATGAGTTTACCCTTAGCCCAGAGGGCCTGCCCAGTCCCAGGGTGACCTGGGCATTTGCACACCCTCACTAAGCCTTCACTGCAGGACCCAAGGGAGGGAGGCTGGGCTAGGGTGCCAGGTGACTCCCCAAGGCTGTCCCCCAGGGGGTTTATGGTGTTTGCCGAAACACAAACTTTTTCAAAGAAACCTGCCAGGTGTGGTG	A	C154030690G	MECP2	NM_001110792.2(MECP2):c.63-5778_1174del	coding	Pathogenic
X	154030690	CGGGGGCCTTT	C	G154030695A	MECP2	NM_001110792.2(MECP2):c.1164_1173del:p.Lys389fs	coding	Pathogenic
X	154030776	GGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGC	G	G154030777T	MECP2	NM_001110792.2(MECP2):c.63-73_1087del	coding	Pathogenic
X	154030821	AGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGG	A	C154030824G	MECP2	NM_001110792.2(MECP2):c.765_1042del:p.Gln256fs	coding	Pathogenic
X	154030840	CACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTG	C	G154030844T	MECP2	NM_001110792.2(MECP2):c.984_1023del:p.Lys329fs	coding	Pathogenic
X	154030843	C	CT	G154030844T	MECP2	NM_001110792.2(MECP2):c.1020_1021insA:p.Gly341fs	coding	Pathogenic
X	154030865	CT	C	T154030867C	MECP2	NM_001110792.2(MECP2):c.998del:p.Lys333fs	coding	Pathogenic
X	154030893	A	AC	G154030896C	MECP2	NM_001110792.2(MECP2):c.970dup:p.Val324fs	coding	Pathogenic
X	154030901	CCGGGTCTTG	C	G154030904C	MECP2	NM_001110792.2(MECP2):c.954_962del:p.Lys319_Arg321del	coding	Pathogenic
X	154030905	GTCTTGCGCTTCTTGATGGGGAGTACGGTC	G	T154030908C	MECP2	NM_001110792.2(MECP2):c.930_958del:p.Glu310fs	coding	Pathogenic
X	154030912	GCTT	G	C154030916G	MECP2	NM_001110792.2(MECP2):c.946AAG[1]:p.Lys317del	coding	Pathogenic
X	154030980	GCCTCGGCGGCAGCGGCTGCCACCACACTCCC	G	C154030982G	MECP2	NM_001110792.2(MECP2):c.853_883del:p.Gly285fs	coding	Pathogenic
X	154031026	GTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGC	G	T154031029C	MECP2	NM_001110792.2(MECP2):c.798_837del:p.Lys266fs	coding	Pathogenic
X	154031189	C	CA	G154031191A	MECP2	NM_001110792.2(MECP2):c.674dup:p.Glu226fs	coding	Pathogenic
X	154031221	TG	T	G154031223C	MECP2	NM_001110792.2(MECP2):c.642del:p.Thr215fs	coding	Pathogenic
X	154031245	C	CG	C154031247G	MECP2	NM_001110792.2(MECP2):c.618dup:p.Gly207fs	coding	Pathogenic
X	154031290	T	TA	G154031291A	MECP2	NM_001110792.2(MECP2):c.573_574insT:p.Lys192Ter	coding	Pathogenic
X	154031346	CCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGGAAATGACGAAGAACCCTGGAAAGCTAGGTGTGGCCTGTTGCCCACCAGAGATCAGCCTTTGAGAATGGACCCCTAGGCAGCTCCCCAGCTCCCCATAAAGGAGGGAGGGAAGGGGAGCCACCAGCAGAGTGGGCCAAGAAAGCAGACAGATGGGAATCGCTACTTCTACACAATCCATCATGGCACTGCCTAACGCCAGGGCTGCTCCCTAGAACCCGGACGGTCCTAATGTCAGAGAAAAACAGTGAACTAATGGGAAAGATCTGGCTTCTTCGAAACTCTCATTTGCATTTCCCAAATACCTTAATCACCATGAGGTCAAACTATAAACCTAAACGTGACGTAAGGAATGCCTTCTAGAAATCTATGCTAAAGAGACACCTCCAGAAATCTCAAAGAACATATGCATGATGTTATTTGCTACAACATTATTTTTACCAGCCAAAGGCTTCCAATACCCCCGATCCCTATCACCAGGGCACTTGCTGAATAAACTTATGGTGCGCCCACACACTGGAGTACTGTGCAGATCCAAAGGGACTAAACAAGAGCTCTAAGAACTGCGATGGAGTCATTTCCAGGATCCACTGTGAAGCAAAGGGAGCAAAGCGCAAACATATCTACTGCATTCTACCAAAGAAAGAAGGGGGGGTATTAAGGAAGGACACACCAGGAACTAATGAAATTGATTCCCTGCATGGGGTAGGGGGAAAAAGGTAAGGGTACAGGCACAGGAGTGAGGCCTAGCTGAACATGCCTCAGTGTAATTCTGACTTCTGAATCATGTAAATGTTTATATTACCCAAAATAAAATTCAAACTAAAAGTAACAAAACCTTATTACACTTAATGCAAATAAAAACAAATGAGTTCG	C	C154031347G	MECP2	NM_001110792.2(MECP2):c.63-2890_517del	coding	Pathogenic
X	154031464	CAGAA	C	A154031468C	MECP2	NM_001110792.2(MECP2):c.414-18_414-15del	noncoding	Benign
X	154032351	G	GA	G154032354A	MECP2	NM_001110792.2(MECP2):c.268dup:p.Ser90fs	coding	Pathogenic
X	154032388	CT	C	T154032389G	MECP2	NM_001110792.2(MECP2):c.231del:p.Glu78fs	coding	Pathogenic
X	154032475	CTTTCT	C	T154032477A	MECP2	NM_001110792.2(MECP2):c.140_144del:p.Lys47fs	coding	Pathogenic
X	154097299	A	AG	C154097301G	MECP2	NM_001110792.2(MECP2):c.62+304dup	noncoding	Benign
X	154097618	GCCT	G	T154097633G	MECP2	NM_001110792.2(MECP2):c.33AGG[4]:p.Gly16del	coding	Benign/Likely_benign
X	154097642	C	CGCG	C154097663G	MECP2	NM_001110792.2(MECP2):c.6CGC[7]:p.Ala8dup	coding	Benign
X	154193469	TGGTGGTGGTGATGGTCCTGGCATTCTGCTTCTGCTGGGGACCATACGCCTTCTTCGCATGCTTTGCTGCTGCCAACCCTGGCTACCCCTTCCACCCTTTGATGGCTGCCCTGCCGGCCTTCTTTGCCAAAAGTGCCACTATC	T	G154193470T	OPN1MW	NM_000513.2(OPN1MW):c.807_948del:p.Met269fs	coding	Pathogenic
X	154348764	C	CCA	T154348765C	FLNA	NM_001110556.2(FLNA):c.*84_*85insTG	noncoding	Benign
X	154349446	TG	T	G154349448C	FLNA	NM_001110556.2(FLNA):c.7671del:p.Ser2558fs	coding	Pathogenic
X	154350077	T	TGG	T154350081G	FLNA	NM_001110556.2(FLNA):c.7285_7286dup:p.Gly2430fs	coding	Pathogenic
X	154350155	G	GTCAA	G154350163A	FLNA	NM_001110556.2(FLNA):c.7205_7208dup:p.Asp2403_Val2404insTer	coding	Pathogenic
X	154351595	CAGTG	C	T154351598G	FLNA	NM_001110556.2(FLNA):c.7005_7008del:p.Thr2336fs	coding	Pathogenic
X	154352272	G	GA	G154352275A	FLNA	NM_001110556.2(FLNA):c.6677dup:p.Gln2227fs	coding	Pathogenic
X	154352820	GCT	G	C154352823G	FLNA	NM_001110556.2(FLNA):c.6329_6330del:p.Glu2110fs	coding	Pathogenic
X	154352905	CA	C	A154352906G	FLNA	NM_001110556.2(FLNA):c.6245del:p.Leu2082fs	coding	Pathogenic
X	154353617	TG	T	G154353618T	FLNA	NM_001110556.2(FLNA):c.5796del:p.Asp1931_Tyr1932insTer	coding	Pathogenic
X	154354171	TA	T	A154354172G	FLNA	NM_001110556.2(FLNA):c.5536del:p.Tyr1846fs	coding	Pathogenic
X	154354402	T	CAA	T154354402C	FLNA	NM_001110556.2(FLNA):c.5395delinsTTG:p.Ile1799fs	coding	Pathogenic
X	154354879	GA	G	A154354880C	FLNA	NM_001110556.2(FLNA):c.5162del:p.Val1721fs	coding	Pathogenic
X	154354882	G	GT	A154354884T	FLNA	NM_001110556.2(FLNA):c.5159dup:p.Tyr1720Ter	coding	Pathogenic
X	154354895	TG	T	G154354901C	FLNA	NM_001110556.2(FLNA):c.5146del:p.Gln1716fs	coding	Pathogenic
X	154359267	AG	A	G154359269T	FLNA	NM_001110556.2(FLNA):c.4281del:p.Tyr1428fs	coding	Pathogenic
X	154359469	T	TGGGGGCTCCC	T154359480G	FLNA	NM_001110556.2(FLNA):c.4142+5_4142+14dup	noncoding	Benign/Likely_benign
X	154359487	G	GT	C154359489T	FLNA	NM_001110556.2(FLNA):c.4138dup:p.Thr1380fs	coding	Pathogenic
X	154361084	GA	G	A154361098G	FLNA	NM_001110556.2(FLNA):c.3207+223del	noncoding	Benign
X	154361550	GGT	G	G154361551C	FLNA	NM_001110556.2(FLNA):c.2963_2964del:p.Asp988fs	coding	Pathogenic
X	154361567	A	AC	T154361570C	FLNA	NM_001110556.2(FLNA):c.2947dup:p.Val983fs	coding	Pathogenic
X	154362052	T	TCC	T154362058C	FLNA	NM_001110556.2(FLNA):c.2751_2752dup:p.Asp918fs	coding	Pathogenic
X	154362455	G	GC	G154362462C	FLNA	NM_001110556.2(FLNA):c.2527dup:p.Ala843fs	coding	Pathogenic
X	154363946	AC	A	C154363948A	FLNA	NM_001110556.2(FLNA):c.2280+75del	noncoding	Benign
X	154364110	T	TAC	A154364112C	FLNA	NM_001110556.2(FLNA):c.2191_2192insGT:p.Tyr731fs	coding	Pathogenic
X	154366422	C	CCT	G154366426T	FLNA	NM_001110556.2(FLNA):c.1112_1113dup:p.Val372fs	coding	Pathogenic
X	154367429	AGTTTGGG	A	G154367430C	FLNA	NM_001110556.2(FLNA):c.829_835del:p.Arg276_Pro277insTer	coding	Pathogenic
X	154367452	TG	T	G154367454C	FLNA	NM_001110556.2(FLNA):c.812del:p.Pro271fs	coding	Pathogenic
X	154367704	GC	G	C154367705T	FLNA	NM_001110556.2(FLNA):c.656del:p.Ser219fs	coding	Pathogenic
X	154370911	T	TCCGACACGTTCTC	G154370913C	FLNA	NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG:p.Glu112fs	coding	Pathogenic
X	154370980	ATCT	A	T154370987G	FLNA	NM_001110556.2(FLNA):c.257AGA[2]:p.Lys88del	coding	Pathogenic
X	154379731	GA	G	A154379732G	EMD	NM_000117.3(EMD):c.125del:p.Glu42fs	coding	Pathogenic
X	154379744	G	GGC	G154379748C	EMD	NM_000117.3(EMD):c.139_140dup:p.Leu48fs	coding	Pathogenic
X	154379754	GC	G	C154379760A	EMD	NM_000117.3(EMD):c.153del:p.Ser52fs	coding	Pathogenic
X	154379970	T	TA	T154379972A	EMD	NM_000117.3(EMD):c.217dup:p.Met73fs	coding	Pathogenic
X	154380194	C	CACCGATGCCCCCTCTGCT	C154380217A	EMD	NM_000117.3(EMD):c.266-35_266-18dup	noncoding	Benign
X	154380739	ACT	A	C154380744T	EMD	NM_000117.3(EMD):c.400-13CT[2]	noncoding	Benign/Likely_benign
X	154380937	CCT	C	C154380938G	EMD	NM_000117.3(EMD):c.506_507del:p.Pro169fs	coding	Pathogenic
X	154380992	C	CCACCTCT	T154381000C	EMD	NM_000117.3(EMD):c.561_567dup:p.Phe190fs	coding	Pathogenic
X	154380998	C	CT	A154381003T	EMD	NM_000117.3(EMD):c.570dup:p.Met191fs	coding	Pathogenic
X	154380998	CT	C	T154381002A	EMD	NM_000117.3(EMD):c.570del:p.Phe190fs	coding	Pathogenic
X	154381045	GC	G	C154381047A	EMD	NM_000117.3(EMD):c.615del:p.Ile206fs	coding	Pathogenic
X	154381061	AC	A	C154381063G	EMD	NM_000117.3(EMD):c.631del:p.Arg211fs	coding	Pathogenic
X	154381069	C	CCTGGGGCTGGG	C154381086G	EMD	NM_000117.3(EMD):c.643_653dup:p.Gln219fs	coding	Pathogenic
X	154381071	T	TGGGGC	T154381077G	EMD	NM_000117.3(EMD):c.640_644dup:p.Gln219fs	coding	Pathogenic/Likely_pathogenic
X	154381072	GGGGCT	G	T154381082C	EMD	NM_000117.3(EMD):c.650_654del:p.Leu217fs	coding	Pathogenic
X	154411860	A	AGTGGC	C154411866G	TAFAZZIN	NM_000116.5(TAFAZZIN):c.18_22dup:p.Pro8fs	coding	Pathogenic
X	154412103	AC	A	C154412105G	TAFAZZIN	NM_000116.5(TAFAZZIN):c.129del:p.Val44fs	coding	Pathogenic
X	154413489	G	GCTTAGGACCC	A154413491T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC:p.Ala98_Ala99insTer	coding	Pathogenic
X	154419595	TG	T	G154419599A	TAFAZZIN	NM_000116.5(TAFAZZIN):c.517del:p.Asp173fs	coding	Pathogenic
X	154419742	G	GT	G154419744T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.580dup:p.Trp194fs	coding	Pathogenic
X	154420078	GC	G	C154420082T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.634del:p.Leu212fs	coding	Pathogenic
X	154420822	TCACCCTCCCAGGG	T	C154420840T	TAFAZZIN	NM_000116.5(TAFAZZIN):c.778-63_778-51del	noncoding	Benign
X	154428787	T	TGGCGGC	A154428809G	ATP6AP1	NM_001183.6(ATP6AP1):c.96GGC[9]:p.Ala40_Ala41dup	coding	Benign
X	154477707	C	CG	C154477708G	LAGE3	NM_017514.5(PLXNA3):c.*5022_*5023insG	noncoding	Benign
X	154531928	GTCC	G	T154531932C	G6PD	NM_001360016.2(G6PD):c.*66GGA[1]	noncoding	Benign
X	154532069	G	GTCTGCCTCCT	G154532079T	G6PD	NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA:p.Asp493fs	coding	Pathogenic
X	154532268	AC	A	C154532269G	G6PD	NM_001360016.2(G6PD):c.1376del:p.Arg459fs	coding	Pathogenic
X	154532570	G	GT	A154532572T	G6PD	NM_001360016.2(G6PD):c.1283dup:p.Tyr428Ter	coding	Pathogenic
X	154532990	CGGT	C	T154532996A	G6PD	NM_001360016.2(G6PD):c.997ACC[1]:p.Thr334del	coding	Pathogenic
X	154533110	TG	T	G154533111C	G6PD	NM_001360016.2(G6PD):c.882del:p.Lys293_Cys294insTer	coding	Pathogenic
X	154534414	GGGA	G	G154534419A	G6PD	NM_001360016.2(G6PD):c.562TCC[1]:p.Ser189del	coding	Pathogenic
X	154535367	GCTT	G	T154535370C	G6PD	NM_001360016.2(G6PD):c.283_285del:p.Lys95del	coding	Pathogenic
X	154545836	C	CA	G154545857A	G6PD	NM_001360016.2(G6PD):c.120+199dup	noncoding	Benign
X	154558768	GACGTCGGGGCAGACGTCGGGAGAGGTCTGGGCCAGGCATCCGGGACCTGGGTCCCAGCCGGCTCTCCGCACTCTGTGACCCTTTGATGGAGTTTGGATTATTTCCTTAGGAGGCATTCTGGGGGCCCCGAGCCCACACCCACAGTGTCTAGTTCTCTGGAAGGACTTCTGGGACCGGCGCACAGTCGCCCTCGTGGCTGAGGTTGATGACAGGGAAAAAGGCACAGGGCAGGAGCCGCCAGGGCAGGAGCCGTGGGGGGAGTTGGAGAAGCCCTGTCCCAGCCTCCCGCTGCCCTGCGAGCGGCACAGTGAGAAGCGCCTCCCACACGGGCCGTGTTCCTGCCCAGGGATGCCCGCTAGAGACTCAGCGCCCTGGGTGTTTACTGGGGGCAGGTCCTGTCAGCGCCCTCTGCCAGGCAGGTACCTAAATCCCCGACTCCCAGCAGCAGAGCGGGTGCTCACGTCAACCACGTTCTTCCTACAAATGGCCTAGGTGCAGGGACCGACCTGACCACTAGAGAAAGTGTCACTGTGGCAAGGGAACTTCACCAGCCAAGGGCCAACCTTGCCAGCCGGTGGCCTCAGGCCTGCTGGTTACTCTCTTTTGCAAAGGGGTCTTGGTTCTTGTGAGTGGGACCATTGGGTCAAAGGGCAGGGAGGTTTCTGTGGTTCTCATTCGGTCCTGCTTCTGCCCTCCAGACAGATGGATCAGCTGCCAGGGGGGCCCCAGCCATCCCAGCACAGTAGGCGGTCAAGGTGCACTTGGGGCAGCCAGCAGGGCAGAGGGGAGGGGAGCTTGACCCAGGCTCTGATGGGCAGAGGGAACCCGTGCAGGGTGTGGGGGCAGTATGCAGGCAGGCGCGGAGGGGAGAGCCAAGCAGCCAGGCCTGCCAGGCAGAGTTGGGGTGACTGGAGAAGGGCCGTGTCTGCCTGTGGCCAGAGGCCACCCAGGACCTGGACAGATGCACCCACCATTGTCCCTGCAGTGAGGCTGTGGAAGGGCTTGGTGTGGTGGGATGAGGCCAGACCCTGGAAACTGGAGGTTAAGGGAGCTGTAGGGGGGCAGGTGTGGGAACTGAGCATCCGAGCAGGTCGTCTGGGACTCCAGCAGAGCTCTGGGCAGCAGCAGGGATGGGGCCGAGGCCCGGTCTGCATTGAGCTCAGTGCTTGCACGCCCAGGTGGGCAGTCTCTCATTTTTGGAACAGCAGTCTCTCCTGACCCCCTCCACTGAGACTGCTTTTGCTGGGGCCCCCAGCAGTCCCCCAGTGGAACTCCACGGGCAGTTCCGAGGGCTCCTCTCACCTGGCCCCAGCACTGCGGGATGCAGGCGACCCCATCCTTTTCTCGGACCACCCCCTTCCCCTGG	CACGTCGGGGCAGACGTCGGGAGAGGTCTGGGCCAGGCATCCGGGACCTGGGTCCCAGCCGGCTCTCCGCACTCTGTGACCCTTTGATGGAGTTTGGATTATTTCCTTAGGAGGCATTCTGGGGGCCCCGAGCCCACACCCACAGTGTCTAGTTCTCTGGAAGGACTTCTGGGACCGGCGCACAGTCGCCCTCGTGGCTGAGGTTGATGACAGGGAAAAAGGCACAGGGCAGGAGCCGCCAGGGCAGGAGCCGTGGGGGGAGTTGGAGAAGCCCTGTCCCAGCCTCCCGCTGCCCTGCGAGCGGCACAGTGAGAAGCGCCTCCCACACGGGCCGTGTTCCTGCCCAGGGATGCCCGCTAGAGACTCAGCGCCCTGGGTGTTTACTGGGGGCAGGTCCTGTCAGCGCCCTCTGCCAGGCAGGTACCTAAATCCCCGACTCCCAGCAGCAGAGCGGGTGCTCACGTCAACCACGTTCTTCCTACAAATGGCCTAGGTGCAGGGACCGACCTGACCACTAGAGAAAGTGTCACTGTGGCAAGGGAACTTCACCAGCCAAGGGCCAACCTTGCCAGCCGGTGGCCTCAGGCCTGCTGGTTACTCTCTTTTGCAAAGGGGTCTTGGTTCTTGTGAGTGGGACCATTGGGTCAAAGGGCAGGGAGGTTTCTGTGGTTCTCATTCGGTCCTGCTTCTGCCCTCCAGACAGATGGATCAGCTGCCAGGGGGGCCCCAGCCATCCCAGCACAGTAAGCGGTCAAGGTGCACTTGGGGCAGCCAGCAGGGCAGAGGGGAGGGGAGCTTGACCCAGGCTCTGATGGGCAGAGGGAACCCGTGCAGGGTGTGGGGGCAGTATGCAGGCAGGCGCGGAGGGGAGAGCCAAGCAGCCAGGCCTGCCAGGCAGAGTTGGGGTGACTGGAGAAGGGCCGTGTCTGCCTGTGGCCAGAGGCCACCCAGGACCTGGACAGATGCACCCACCATTGTCCCTGCAGTGAGGCTGTGGAAGGGCTTGGTGTGGTGGGATGAGGCCAGACCCTGGAAACTGGAGGTTAAGGGAGCTGTAGGGGGGCAGGTGTGGGAACTGAGCATCCGAGCAGGTCGTCTGGGACTCCAGCAGAGCTCTGGGCAGCAGCAGGGATGGGGCCGAGGCCCGGTCTGCATTGAGCTCAGTGCTTGCACGCCCAGGTGGGCAGTCTCTCATTTTTGGAACAGCAGTCTCTCCTGACCCCCTCCACTGAGACTGCTTTTGCTGGGGCCCCCAGCAGTCCCCCAGTGGAACTCCACGGGCAGTTCCGAGGGCTCCTCTCACCTGGCCCCAGCACTGCGGGATGCAGGCGACCCCATCCTTTTCTCGGACCACCCCCTTCCCCTGACTTCCAGGTCTCCTTGCCATCTGTACTTGGTCACCTGCTGGGCCCCTGCATTGAAGCAAACACGTCTTAAGCAAAGCTCCTCACCTGCTGCTCCCACCTGGCCCCCTGCAGTTGTCCTCGTGTCTGTTGACGGTGCCTCCACCCTGCCGCCTGGCATCAGCTCGCAGTCACAGGGTGTTCAGAGCCGACCCCCACCCCCCGCCCACGCCCTGCGCATAGCCCCTGCCGTCCCCCCGTTCGTCCTCCCTGAGTCTGCTCTTTCCCCGTGCCAGGGCCCGGGCGGCCAGCGAGCAGGCGCGGCAGCTGGAGAGTGAGCGCGAGGCGCTGCAGCAGCAGCACAGCGTGCAGGTGGACCAGCTGCGCATGCAGGGCCAGAGCGTGGAGGCCGCGCTCCGCATGGAGCGCCAGGCCGCCTCGGAGGAGAAGTGAGTCAGCGGGGGCGGGGCCGCACCGCAGGGTCTGTGGTTCTACACTTGATCTTAGCCGAAAGGCTGAGAAGTGTCGGGTCCATGGTTCTTTCTGCCTTCTGAGGACTCCTTCAGATTCTGCCTGTGGCTGTGGGCCCATTCTGTCCCTTAGCCTTGCTAACGGTAGAGGCGACCATGATGACACCCGGTTTGTCTTTGATACAGTCATGCCATCTGCTCTCCAGACCACGTTTCACTGCGTGTCCACACGTGGCCTTTTTTGTAGTTTTTTTTTCCTAGCCACTAGGTCATCAGGGGACTTGTCCTTTAAAACCCCTTCTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAGATGGCTTAAGCCCGGGAGTTCCAAGACCAGCCTGGGCAACAGAAAGACAACAAAAATACCCCCAAACCCCCCCGTCTACCAGCATCCAATCTGGGACCTCAGGTTCCTGTCCTTGGCGTGCCTTTTCAGTCTCCTTTAATCTAGAACAGTTCCCCTGCCTTTCTGAGCTGTTTGTGAAGTTCACAGTTTTGAACAGTGCAGGGTAGTTCCATTGTATTATTACTATTATTTTCAAGACAGGGTCTTGCTCTACCGTCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTTACTGTACCTTCCGCCTCTTGGTCTCAAGCGATCCTCCCAGGTAGCTGGGACTATAGGCGCAGGCCAGCACACCTGGCTAATTTTTGCATTTTTGGTAGAGGTGGCGTTTTCCTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCTTCTCAAAGTGTTGGGATTATGGGCGTGAGCCACCGCGTCTGGCCGCGATTTTATTATAAACATTAAAAATACTAGCTTTTAGGAAAACGATATTAACTGCCTGGTGACCAGCCCACCAAAGCCTGCTTTAGAGTTGACGGCCTCAGGAGTCCTCACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGATGGTGTCGGCAGGGTGGGCTCCCCGCCAGGGCCGCGAGGGAGCTGCCTTCCAGGCCTCTCCACGGCGCCGGGGGCCGCCGGCTGCACCTCTCCAGCCTCCATCTCCGTCATCCTGTGGCCTTGTCCCCGCGGGCCTCTGTGCCTGTCCTCCTCTTTTGACAAGAACACCGGAGATACACAAAGGTACACAAAAGCGGGCCTTTGTTCAAGCTGGCAAAAGAGATCTTCTTCAGAAACCCCTGCTTGCGGGGGAGAGAGCTGAGCTCCGTTCCCGCCCCAGCAGAGGCGGCCTGGCCTTGCGAAGGGAGAAGGAGGGAGTCGGGAGGGGGCGAGTGCAGGCTCAGGTGAAAGATGACGGGGCAGCCAGCGTCCTTGCCGCGAGGCCAGCCGTGTGTGGGAGCTGCCGGTGCTTACCAAGGTTGGGATGCTTCCGTCCCGTGGAGACTGGGAGACTGGGCCCCGCGCCTCCTGAGGTTTCCGTTTCCAAGGAGTGGCTGCGGGGCCCTCGGGAAAGCCCCTGGGTTGTGGGTGCTACACAGATGTCTCAAAGGGACAGGGTAAGCCCTTTGTAGTAAATGCTGTCAGAAAGGGAGGTCAGGTGTTGGCCGGAACAGACAGTACATGCTCTGGGCAGCCCTGAGCGTTTCCAGACGGGAACTCACTCAAAAGGGGGCTGGGGCGTCCCAGGGGCGCGGCCTTAGGCTCCCAGAGGCCCCGCGAGGTGGTGGCCGGGTGTCTTCGGGCAGGGGTTTGAGTGCAGTGTGCCTGCCGAGAGGTTCTGCAGTTCCCAGTGTTTAACAAAATTCAGTGTCCACTCTTGATCTGCACAAACTCTCCCATCCTGGCGGCCCCGGGTGTGGACTGGGGCCTGTGTTTACTTTGCCCTATTCGTGTCTGGCCTCCTTTTGTCCCAAGTCTCAGAGAGACGGAGAGAGATCCCCTGCTGGGGCTGTAGCTGCAAGGCCACCGGGTTCAGCCCTCGAGGCCTGCTTGCCGGGGCAGTGACTAAGCCGTTGACAACCTCAAGGCAGCTTTGTGCTCCTTCGTCTCTTTGGGGATCTCTTTTTGCCCCATCTGTGTGTCACCCTGTGGCAGAGGGTTAAGGTGGGCAGCTGGGGAGGGTTGGGTGGCCCTTGGGCTCATGAGGCCCTAGGGCACCCAGGTTTGGGGGTGCCGAGGGCAGGAAAAAAGGCCTCATGGCGCGCAGGCCTCAGCCGCTTGCGGGTTGCCCCGGGCTTGCGGATGGCAGGAGTGGGCCGCTGGGGAGAAAGCAGTGCTGACAGGAAGTGGCTTTTTATCCTGCAGCAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGGAGACCCCTTCCAGGGTTTCCAAAAGCAATGAGGTGGGTTTAGGGGCCTCCAGGGTGCTCCTTGATGAGGATAGACCGGGGCAGGCTGCGTAAACACGTCGGGGCAGACGTCGGGAGAGGTCTGGGCCAGGCATCCGGGACCTGGGTCCCAGCCGGCTCTCCGCACTCTGTGACCCTTTGATGGAGTTTGGATTATTTCCTTAGGAGGCATTCTGGGGGCCCCGAGCCCACACCCACAGTGTCTAGTTCTCTGGAAGGACTTCTGGGACCGGCGCACAGTCGCCCTCGTGGCTGAGGTTGATGACAGGGAAAAAGGCACAGGGCAGGAGCCGCCAGGGCAGGAGCCGTGGGGGGAGTTGGAGAAGCCCTGTCCCAGCCTCCCGCTGCCCTGCGAGCGGCACAGTGAGAAGCGCCTCCCACACGGGCCGTGTTCCTGCCCAGGGATGCCCGCTAGAGACTCAGCGCCCTGGGTGTTTACTGGGGGCAGGTCCTGTCAGCGCCCTCTGCCAGGCAGGTACCTAAATCCCCGACTCCCAGCAGCAGAGCGGGTGCTCACGTCAACCACGTTCTTCCTACAAATGGCCTAGGTGCAGGGACCGACCTGACCACTAGAGAAAGTGTCACTGTGGCAAGGGAACTTCACCAGCCAAGGGCCAACCTTGCCAGCCGGTGGCCTCAGGCCTGCTGGTTACTCTCTTTTGCAAAGGGGTCTTGGTTCTTGTGAGTGGGACCATTGGGTCAAAGGGCAGGGAGGTTTCTGTGGTTCTCATTCGGTCCTGCTTCTGCCCTCCAGACAGATGGATCAGCTGCCAGGGGGGCCCCAGCCATCCCAGCACAGTAAGCGGTCAAGGTGCACTTGGGGCAGCCAGCAGGGCAGAGGGGAGGGGAGCTTGACCCAGGCTCTGATGGGCAGAGGGAACCCGTGCAGGGTGTGGGGGCAGTATGCAGGCAGGCGCGGAGGGGAGAGCCAAGCAGCCAGGCCTGCCAGGCAGAGTTGGGGTGACTGGAGAAGGGCCGTGTCTGCCTGTGGCCAGAGGCCACCCAGGACCTGGACAGATGCACCCACCATTGTCCCTGCAGTGAGGCTGTGGAAGGGCTTGGTGTGGTGGGATGAGGCCAGACCCTGGAAACTGGAGGTTAAGGGAGCTGTAGGGGGGCAGGTGTGGGAACTGAGCATCCGAGCAGGTCGTCTGGGACTCCAGCAGAGCTCTGGGCAGCAGCAGGGATGGGGCCGAGGCCCGGTCTGCATTGAGCTCAGTGCTTGCACGCCCAGGTGGGCAGTCTCTCATTTTTGGAACAGCAGTCTCTCCTGACCCCCTCCACTGAGACTGCTTTTGCTGGGGCCCCCAGCAGTCCCCCAGTGGAACTCCACGGGCAGTTCCGAGGGCTCCTCTCACCTGGCCCCAGCACTGCGGGATGCAGGCGACCCCATCCTTTTCTCGGACCACCCCCTTCCCCTGA	G154558768C	IKBKG	NG_009896.1:g.19984_24446dup	noncoding	Pathogenic
X	154563694	T	TC	G154563696C	IKBKG	NM_001099857.5(IKBKG):c.1049dup:p.Ala351fs	coding	Pathogenic
X	154564361	GC	G	C154564368G	IKBKG	NM_001099857.5(IKBKG):c.1167del:p.Glu390fs	coding	Pathogenic
X	154765540	TA	T	A154765544T	DKC1	NM_001363.5(DKC1):c.171+14del	noncoding	Benign/Likely_benign
X	154776834	G	GGAA	A154776835G	DKC1	NM_001363.5(DKC1):c.1512_1513insGAA:p.Lys504_Lys505insGlu	coding	Benign
X	154837696	C	CG	T154837699G	F8	NM_000132.4(F8):c.6956dup:p.Leu2320fs	coding	Pathogenic
X	154861768	AAGG	A	G154861771A	F8	NM_000132.4(F8):c.6670_6672del:p.Pro2224del	coding	Pathogenic
X	154896506	TACAC	T	C154896534T	F8	NM_000132.4(F8):c.6274-304GT[13]	noncoding	Benign
X	154896506	TAC	T	C154896536T	F8	NM_000132.4(F8):c.6274-304GT[14]	noncoding	Benign
X	154902145	CA	C	A154902146T	F8	NM_000132.4(F8):c.6020del:p.Met2007fs	coding	Pathogenic
X	154904895	G	GT	A154904897T	F8	NM_000132.4(F8):c.5501dup:p.Tyr1834Ter	coding	Pathogenic
X	154904913	AG	A	G154904915C	F8	NM_000132.4(F8):c.5483del:p.Pro1828fs	coding	Pathogenic
X	154905016	AAA	TC	A154905016T	F8	NM_000132.4(F8):c.5379_5381delinsGA:p.Phe1794fs	coding	Pathogenic
X	154928638	AAT	A	T154928640G	F8	NM_000132.4(F8):c.5150_5151del:p.Tyr1717fs	coding	Pathogenic
X	154929126	TTC	T	T154929127C	F8	NM_000132.4(F8):c.4662_4663del:p.Trp1554_Asn1555delinsTer	coding	Pathogenic
X	154929410	A	AT	G154929419T	F8	NM_000132.4(F8):c.4379dup:p.Asn1460fs	coding	Pathogenic
X	154929547	A	AT	G154929549T	F8	NM_000132.4(F8):c.4242dup:p.Phe1415fs	coding	Pathogenic
X	154929759	G	GTT	C154929763T	F8	NM_000132.4(F8):c.4029_4030dup:p.Thr1344fs	coding	Pathogenic
X	154929825	TG	T	G154929827C	F8	NM_000132.4(F8):c.3964del:p.Gln1322fs	coding	Pathogenic
X	154930043	CA	C	A154930044G	F8	NM_000132.4(F8):c.3746del:p.Leu1249fs	coding	Pathogenic
X	154930152	A	AT	C154930162T	F8	NM_000132.4(F8):c.3637dup:p.Ile1213fs	coding	Pathogenic
X	154931283	G	GA	G154931289A	F8	NM_000132.4(F8):c.2506dup:p.Ser836fs	coding	Pathogenic
X	154931670	C	CAT	G154931674T	F8	NM_000132.4(F8):c.2118_2119dup:p.Trp707fs	coding	Pathogenic
X	154947793	GAGA	G	A154947800C	F8	NM_000132.4(F8):c.2009TCT[2]:p.Phe672del	coding	Pathogenic
X	154947866	AAACT	A	A154947867G	F8	NM_000132.4(F8):c.1941_1944del:p.Leu650fs	coding	Pathogenic
X	154956958	TG	T	G154956960T	F8	NM_000132.4(F8):c.1750del:p.Gln584fs	coding	Pathogenic
X	154961095	TACAAAGGACGG	T	A154961099T	F8	NM_000132.4(F8):c.1506_1516del:p.Arg503fs	coding	Pathogenic
X	154966080	CT	C	T154966086G	F8	NM_000132.4(F8):c.1332del:p.Val445fs	coding	Pathogenic
X	154966128	GA	AC	G154966128A	F8	NM_000132.4(F8):c.1284_1285delinsGT:p.Ser428_Gln429delinsArgTer	coding	Pathogenic
X	154966435	GGGGCG	C	G154966435C	F8	NM_000132.4(F8):c.1257_1262delinsG:p.Ala420fs	coding	Pathogenic
X	154987255	A	AAAGTAGTATAAAT	T154987269A	F8	NM_000132.4(F8):c.639_651dup:p.Phe218fs	coding	Pathogenic
X	154993042	TG	T	G154993044A	F8	NM_000132.4(F8):c.494del:p.Pro165fs	coding	Pathogenic
X	154993098	CTT	C	T154993100A	F8	NM_000132.4(F8):c.437_438del:p.Lys146fs	coding	Pathogenic
X	154999488	G	GT	G154999490T	F8	NM_000132.4(F8):c.255dup:p.Pro86fs	coding	Pathogenic
X	154999510	GA	G	A154999514G	F8	NM_000132.4(F8):c.233del:p.Phe78fs	coding	Pathogenic
X	154999564	G	GTTGAATGGAA	A154999575T	F8	NM_000132.4(F8):c.170_179dup:p.Thr61fs	coding	Pathogenic
X	155264166	CACGGTGGGGTCAGAAACCTGGGCAAAGCGACCCTCGGTGAAGCGGCGGATCAGGCAGGACTTGCCCACTGTGGAATCCCCGATGACAATGAGCCGGAACTGGTACAGCCAGATGGCCTCCATGGCCGCGGCTCTGCAGGTCTCCTTGGCCCGGACCGGGGACGGCGGGAGGGGGCGCCCCGCCGACGCCTCAGAGAGCGCGGCTCGGCAGGATCTAGCTCAGCCGCGAGCGCATCGCTGGCCTGGGAGCCCGAAGCTGGGTAGGCCCAGGCGCCGGGAGAGCGGAGGGATGGATGCTGCGCTCGCAAAGGTGATGAAATGGCAGCAGCATCAGCACCACGCACTCTGACTCATCACTGACAACCGGGTTACTGTAATCCCCCGCGTAGACGCGACGCCTGGGCCGCCGCACTATCTGTAAGAGGAGCGCACACAAAATGGCTGCAACATTAGCGCGATCCCTCCCTTTCTAACTACCCCACCCACCCTCTGTTCATTAAAACTGTTCTCTGTCGTTCAAACTGCCAATGTCATACCTTTTCATTGAAACTAGCAAAGCAATACAAAACTGCACAAAAAAGGGAAGGCACATAATTATATATTAGTCTACAAGTGTTTCCATGCTCACATAAACACACAAATATTATATGTGTTTGTATTCCTATATGCATTTATTGCTGTTTGTTTTTACAAAAATTAAACTGGGGCCTTACTTTCAATTAATAATTGCTTTTTGCAATTAATAAAGCAACATAAATATCTTTCCATTTCCACCTAATTTCCCTTTTGTCATAACTTATTTTAAAGTGTAGCCACAAGTATTTTATTTCTGTGAGCTACAGTCTTAAAAAAGGGGCCATGAATTCAAAGAGTATAAGTATTTTAAATTTAACGGACATGGGCATTCTACTTTCCAAAACTATTTAACAGTTTAAATTCTACCCAGCAATGTGTGAAAAGACCATCGCTCTGCATTATTTCAAGCATCATATGTATGTTTTATTCTTTCTTAATTCTTCTCAATAGAATTTAGTTAAATAAAAATATGTCTCATTGCTTTATTTTTACATTTCTCTGACTACTGATGAGGTCAATACCAAGTCTTGTGTATTGACCATTTCATTTCCTCTTCTGGGAATTGTCTCTTCATATCCTTTGTATTTTTTATGTGTAATTTTATTTTATTTTTTTTTTGAGACAGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCTACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATAAGGTTACACTGTA	C	A155264167T	RAB39B	NC_000023.11:g.155264167_155265545del	coding	Pathogenic
Y	2787313	C	CG	T2787314G	SRY	NM_003140.3(SRY):c.290_291insC:p.Gln97fs	coding	Pathogenic
Y	12735724	TTAAG	T	A12735730T	USP9Y	NM_004654.4(USP9Y):c.773+3_773+6del	coding	Pathogenic
