Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTSD_chr11_1747755_1768927	1754561	G G	GATGGAGG others(176): Show GATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGG GATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGAGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGGATGGAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0187 a0001c0004t0002g0187	1	386	0.0026	183	c.827 others(198): Show c.827+344_827+345insTCCTCCATCCCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCCTCCATCCCTCCATCCCTCCATCCCCTCCATCCCTC CATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTC CAT	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(176): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0020 a0001c0002t0013g0020	1	380	0.0026	183	c.-11 others(194): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(176): Show ATATATAAAGTATATATTTATATAAATATATATTATATATAATATATATT TATATAAATATATATTATATATAAATATATTTATATAAATATATATTTAT AAAATATATTATATATAATATATATTATATAAAATATATATTTATATAAA AATGTATTATATTATATATTATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	356	0.0028	183	c.539 others(200): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTATATATAATATATATTTATATAAATATATATTATATATAAATATATT TATATAAATATATATTTATAAAATATATTATATATAATATATATTATATA AAATATATATTTATATAAAAATGTATTATATTATATATTATATAAATATA TATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DEFB131A_chr4_9439414_9455666	9440433	C C	CTTGCTAA others(176): Show CTTGCTAATGGGTTGTAATTATGAAATGAGAGAATCAAAGGTATGCTCAG AGTTTTTGTTCGTTTTTGTTTTTTAACCTAAACAACTAGGTACATGAGCC CATCATTGAGAGAGCAAGACTAAAGGGAGTGAGTATTAACAGAGAAAGTG GTATGAATCAAAAATTCATTTTGGAATTCTTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 NA20752.hp1 HG00639.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	424	0.0047	183	c.-41 others(194): Show c.-4101_-4100insTTGCTAATGGGTTGTAATTATGAAATGAGAGAAT CAAAGGTATGCTCAGAGTTTTTGTTCGTTTTTGTTTTTTAACCTAAACAA CTAGGTACATGAGCCCATCATTGAGAGAGCAAGACTAAAGGGAGTGAGTA TTAACAGAGAAAGTGGTATGAATCAAAAATTCATTTTGGAATTCTTGAG	DEFB131A	ENSG00000186146.2	transcript	ENST00000334879.2	protein_coding		3980		chr4	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(176): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATACAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATGCATATA ATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0096 a0001c0002t0004g0096	1	280	0.0036	183	c.126 others(200): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATATGTATATATTATATGCATATAATATATATGTA TATCATATAATATATAATATATAATTGTATATTATATATCATAATATGTA ATATATAATTATATATTACATATATATATTTTAATATATATAATATATAA TATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(176): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATGCATATA ATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp2 others(36): Show HG00099.hp2 HG00140.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG02080.hp2 HG02155.hp2 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18951.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA19009.hp1 NA19090.hp1 NA20129.hp2 NA20905.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0002 a0008c0010 others(1): Show a0001c0001 a0001c0002 a0008c0010 a0010c0013	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0044 a0001c0002t0046 a0008c0010t0002 a0010c0013t0002	a0001c0001t0001g0078 a0001c0002t0002g0062 a0001c0002t0002g0072 others(36): Show a0001c0001t0001g0078 a0001c0002t0002g0062 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0160 a0001c0002t0002g0277 a0001c0002t0004g0079 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0102 a0001c0002t0004g0104 a0001c0002t0004g0113 a0001c0002t0004g0122 a0001c0002t0016g0123 a0001c0002t0044g0100 a0001c0002t0046g0073 a0008c0010t0002g0103 a0010c0013t0002g0126	39	280	0.1393	183	c.126 others(200): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATATGTATATATTATATGCATATAATATATATGTA TATCATATAATATATAATATATAATTATATATTATATATCATAATATGTA ATATATAATTATATATTACATATATATATTTTAATATATATAATATATAA TATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(176): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATGTAATATATACATATATGCATATA ATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03927.hp1 HG03654.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0127 a0001c0002t0016g0128 a0001c0002t0016g0127 a0001c0002t0016g0128	2	280	0.0071	183	c.126 others(200): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATATGTATATATTACATGCATATAATATATATGTA TATCATATAATATATAATATATAATTATATATTATATATCATAATATGTA ATATATAATTATATATTACATATATATATTTTAATATATATAATATATAA TATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGKD_chr2_233349494_233477098	233397210	G G	GGGGCCAG others(176): Show GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGG GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCC AGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGA GCGAGAGGACACCAGAGGGGACCAGGGTGGCTGC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	336	0.0030	183	c.348 others(200): Show c.348+6730_348+6731insCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGG GTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCT GCGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397210	G G	GGGGCCAG others(176): Show GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGG GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCC AGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGA GCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	336	0.0030	183	c.348 others(200): Show c.348+6730_348+6731insCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGG GTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCT GCGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(176): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCC CCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG03195.hp2 others(2): Show HG02622.hp1 HG02965.hp1 HG03195.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0002c0005t0006 a0001c0001t0006 a0002c0005t0006	a0001c0001t0006g0106 a0002c0005t0006g0103 a0002c0005t0006g0108 others(2): Show a0001c0001t0006g0106 a0002c0005t0006g0103 a0002c0005t0006g0108 a0002c0005t0006g0109 a0002c0005t0006g0110	5	284	0.0176	183	c.101 others(202): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(176): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCT CCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0107 a0002c0005t0006g0107	1	284	0.0035	183	c.101 others(202): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCTCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516659	G G	GGGTAGGG others(176): Show GGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAG GGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGG GGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGA CACAGGGGGTAGGGTGGGGGGGGGACACGGGGTA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	88	0.0114	183	c.86- others(200): Show c.86-30130_86-30129insTACCCCGTGTCCCCCCCCCACCCTACCC CCTGTGTCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGT CCCCCCCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCT CCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACC CTACC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAJB6_chr7_157332004_157422439	157400266	A A	ACATGGGG others(176): Show ACATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGCACTTGTATGTA GGGAGGTCTGAACATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGT GCTCGTGTGTAGGGAGGTCTGAGCACGGGGGATGCCCGGGTCCCCGTGCC TTCGTGTACGCACTTGTACGTAGGGAGGTCTGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0156 a0001c0001t0006g0157	2	372	0.0054	183	c.692 others(200): Show c.692-9516_692-9515insTGGGTCCCCGCGCCTTCGTGTACGCACT TGTATGTAGGGAGGTCTGAACATGGGGGATGCCTGGGTCCCCGCGCCTTC GTGTACGTGCTCGTGTGTAGGGAGGTCTGAGCACGGGGGATGCCCGGGTC CCCGTGCCTTCGTGTACGCACTTGTACGTAGGGAGGTCTGAGCATGGGGG ATGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACACACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0136 a0001c0001t0003g0096 a0001c0001t0003g0136	2	372	0.0054	183	c.692 others(200): Show c.692-9493_692-9492insACACTTGTATGTAGGGAGGTCTGAACAT GGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGA GGTCTGAGCACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTT GTACGTAGGGAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCG TGTAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACGCACTTGTACGTAGGGAGGTCTGAGCATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	372	0.0027	183	c.692 others(200): Show c.692-9438_692-9437insGTGTACGTGCTCGTGTGTAGGGAGGTCT GAGCACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACG TAGGGAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTAC GCACTTGTACGTAGGGAGGTCTGAGCATGGGGGATGCCTGGGTCCCCGCG CCTTC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACGCACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(174): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0008 a0005c0006 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0004t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0018 a0003c0003t0001 a0004c0008t0001 a0005c0006t0003 a0006c0005t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(174): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0365 a0001c0001t0001g0371 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0106 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0260 a0001c0001t0002g0282 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0372 a0001c0001t0004g0082 a0001c0001t0005g0010 a0001c0001t0005g0057 a0001c0001t0005g0066 a0001c0001t0005g0165 a0001c0001t0006g0235 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0010g0100 a0001c0001t0010g0105 a0001c0001t0010g0336 a0001c0001t0011g0116 a0001c0001t0011g0117 a0001c0001t0013g0145 a0001c0001t0015g0234 a0001c0001t0016g0053 a0001c0001t0019g0043 a0001c0001t0020g0129 a0001c0001t0022g0014 a0001c0001t0023g0091 a0001c0004t0006g0158 a0002c0002t0001g0069 a0002c0002t0001g0162 a0002c0002t0002g0019 a0002c0002t0018g0108 a0003c0003t0001g0166 a0003c0003t0001g0225 a0004c0008t0001g0337 a0005c0006t0003g0107 a0006c0005t0002g0036	177	372	0.4758	183	c.692 others(200): Show c.692-9484_692-9483insTGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCAC TTGTA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(176): Show CGCCTTCGTGTACGCACTTGTATGTAGGGAGTTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp1 HG02257.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0121 a0001c0001t0003g0120 a0001c0001t0002g0121 a0001c0001t0003g0120	2	372	0.0054	183	c.692 others(200): Show c.692-9484_692-9483insTGTAGGGAGTTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCAC TTGTA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTTG others(176): Show CGCCTTTGTGTACGCACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01192.hp2 others(3): Show HG00423.hp1 HG00544.hp1 HG01192.hp2 HG01934.hp2 NA18959.hp2 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0004	a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0002g0359 others(3): Show a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0002g0359 a0001c0001t0002g0364 a0001c0001t0004g0362 a0002c0002t0004g0361	6	372	0.0161	183	c.692 others(200): Show c.692-9500_692-9499insTGTGTACGCACTTGTATGTAGGGAGGTC TGAACATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGT GTAGGGAGGTCTGAGCACGGGGGATGCCCGGGTCCCCGTGCCTTCGTGTA CGCACTTGTACGTAGGGAGGTCTGAGCATGGGGGATGCCCGGGTCCCCGT GCCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK8_chr9_209865_470255	380035	G G	GGGCTCAC others(176): Show GGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATC GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04115.hp1 HG03834.hp1 HG04115.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0013 a0001c0003 a0005c0013	a0001c0003t0001 a0005c0013t0001 a0001c0003t0001 a0005c0013t0001	a0001c0003t0001g0107 a0005c0013t0001g0188 a0001c0003t0001g0107 a0005c0013t0001g0188	2	256	0.0078	183	c.260 others(200): Show c.2605+394_2605+576dupGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTC ACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGG AGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400003	A A	ATCACCAC others(176): Show ATCACCACCATCTTCACCACCACCACCACCTCCACCACCAGCACTTCCAC CATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCA CCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATT ATCACCTTTCCTATCACCTCCAATATCACTACCT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0005 a0005	a0005c0159 a0005c0159	a0005c0159t0001 a0005c0159t0001	a0005c0159t0001g0140 a0005c0159t0001g0140	1	256	0.0039	183	c.323 others(200): Show c.3234+744_3234+745insTCACCACCATCTTCACCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCA CCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCC CTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCAC TACCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400070	T T	TCACCATC others(176): Show TCACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCAC CACCACCATCTTCACCGTCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0011 a0011	a0011c0165 a0011c0165	a0011c0165t0001 a0011c0165t0001	a0011c0165t0001g0215 a0011c0165t0001g0215	1	256	0.0039	183	c.323 others(200): Show c.3234+832_3234+833insTATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCAC CACCACCATCTTCACCGTCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(176): Show CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCTTCACC ATCACCACCACCTCCACCATCACCACCACCACCACCACCACCATCACCAC CACCTCCACTATCACCACCACCTCCACTATCACCACCACCTCCACCATCA CCACCTCCTCCATCACCACCACCATCTTCACCAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0062 a0062	a0062c0123 a0062c0123	a0062c0123t0001 a0062c0123t0001	a0062c0123t0001g0240 a0062c0123t0001g0240	1	256	0.0039	183	c.323 others(200): Show c.3234+845_3234+846insTCCACCATCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCACC ACCACCATCACCACCACCTCCACTATCACCACCACCTCCACTATCACCAC CACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCA CCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(176): Show CCACCACCTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCT CCACCTCCACCATCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0012 a0012	a0012c0092 a0012c0092	a0012c0092t0011 a0012c0092t0011	a0012c0092t0011g0126 a0012c0092t0011g0126	1	256	0.0039	183	c.323 others(202): Show c.3234+1467_3234+1468insTCCACCATCACCACCTCCTTCACCAT CACCACCTCCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACC ATCACCACCACCACCTCCACCTCCACCATCACCACCACCACCTCCACCAT CACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400869	T T	TCACCACC others(176): Show TCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAC CACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCA TCACCACCTCCTCCACCACCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0004 a0001c0051t0004	a0001c0051t0004g0059 a0001c0051t0004g0059	1	256	0.0039	183	c.323 others(202): Show c.3234+1627_3234+1628insTCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCAC CATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTCCT CCACCATCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACC TCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DR1_chr1_93340907_93374493	93344857	T T	TTATATAT others(176): Show TTATATATATATAAATATATATTATATATATAAATATATATTTATATATA TAAATATATATTAATATATATAAATATATATTATATATATATAATATATA TAAATATATATTATATATATATAATATATATAAATATATATTATATATAT ATAATATATATAAATATATATTATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	360	0.0028	183	c.-17 others(194): Show c.-1789_-1788insTATATATATATAAATATATATTATATATATAAAT ATATATTTATATATATAAATATATATTAATATATATAAATATATATTATA TATATATAATATATATAAATATATATTATATATATATAATATATATAAAT ATATATTATATATATATAATATATATAAATATATATTATATATATATAA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding		1049		chr1	TogoVar
DYSF_chr2_71448561_71691763	71479156	T T	TAAGAGCC others(176): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01071.hp1 others(21): Show HG00140.hp1 HG00438.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01981.hp1 HG02040.hp1 HG02258.hp2 HG02300.hp2 HG02615.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp2 HG03942.hp2 NA18952.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA19085.hp2 NA19087.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0013 a0019 a0026	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0020 a0001c0024 a0001c0072 a0001c0076 a0001c0077 a0002c0023 a0002c0068 a0006c0029 a0013c0078 a0019c0033 a0026c0064	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0013t0001 a0001c0020t0001 a0001c0024t0001 a0001c0072t0002 a0001c0076t0001 a0001c0077t0001 a0002c0023t0001 a0002c0068t0001 a0006c0029t0001 a0013c0078t0001 a0019c0033t0001 a0026c0064t0001	a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0002g0177 others(21): Show a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0002t0002g0155 a0001c0003t0001g0076 a0001c0003t0001g0114 a0001c0003t0001g0131 a0001c0005t0001g0029 a0001c0005t0002g0146 a0001c0013t0001g0057 a0001c0013t0001g0083 a0001c0020t0001g0080 a0001c0020t0001g0085 a0001c0024t0001g0054 a0001c0072t0002g0077 a0001c0076t0001g0055 a0001c0077t0001g0120 a0002c0023t0001g0072 a0002c0068t0001g0038 a0006c0029t0001g0104 a0013c0078t0001g0190 a0019c0033t0001g0064 a0026c0064t0001g0036	24	192	0.1250	183	c.89- others(198): Show c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA GCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71479164	G G	GACCCAAA others(176): Show GACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03239.hp1 homoSapiens_chm13v2.hp1 HG02698.hp1 HG03239.hp1 homoSapiens_chm13v2.hp1	a0001 a0022 a0001 a0022	a0001c0002 a0001c0003 a0022c0035 a0001c0002 a0001c0003 a0022c0035	a0001c0002t0001 a0001c0003t0001 a0022c0035t0001 a0001c0002t0001 a0001c0003t0001 a0022c0035t0001	a0001c0002t0001g0133 a0001c0003t0001g0106 a0022c0035t0001g0051 a0001c0002t0001g0133 a0001c0003t0001g0106 a0022c0035t0001g0051	3	192	0.0156	183	c.89- others(198): Show c.89-1710_89-1709insCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCAACCCAA ATA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479156	T T	TAAGAGCC others(176): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01071.hp1 others(24): Show HG00140.hp2 HG00438.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01981.hp2 HG02040.hp2 HG02148.hp1 HG02258.hp1 HG02300.hp1 HG02615.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp2 HG03942.hp1 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18969.hp2 NA18973.hp1 NA19085.hp1 NA19087.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0014 a0020 a0028	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0020 a0001c0024 a0001c0062 a0001c0074 a0001c0081 a0001c0082 a0002c0023 a0002c0071 a0008c0030 a0014c0083 a0020c0036 a0028c0067	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0001c0020t0001 a0001c0024t0001 a0001c0062t0002 a0001c0074t0001 a0001c0081t0001 a0001c0082t0001 a0002c0023t0001 a0002c0071t0001 a0008c0030t0001 a0014c0083t0002 a0020c0036t0001 a0028c0067t0001	a0001c0001t0001g0078 a0001c0001t0001g0129 a0001c0001t0002g0168 others(24): Show a0001c0001t0001g0078 a0001c0001t0001g0129 a0001c0001t0002g0168 a0001c0001t0002g0194 a0001c0002t0002g0155 a0001c0003t0001g0011 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0003t0001g0127 a0001c0005t0001g0062 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0009t0001g0064 a0001c0009t0001g0089 a0001c0020t0001g0131 a0001c0020t0001g0132 a0001c0024t0001g0085 a0001c0062t0002g0001 a0001c0074t0001g0128 a0001c0081t0001g0086 a0001c0082t0001g0018 a0002c0023t0001g0123 a0002c0071t0001g0079 a0008c0030t0001g0016 a0014c0083t0002g0150 a0020c0036t0001g0115 a0028c0067t0001g0075	27	208	0.1298	183	c.92- others(198): Show c.92-1720_92-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA GCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479164	G G	GACCCAAA others(176): Show GACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 homoSapiens_chm13v2.hp1 HG02698.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0067 a0001c0003t0001g0010 a0001c0002t0001g0067 a0001c0003t0001g0010	2	208	0.0096	183	c.92- others(198): Show c.92-1710_92-1709insCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCAACCCAA ATA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315325	T T	TACCACCA others(176): Show TACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCCCCAT ACACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20805.hp2 HG00738.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0210 a0001c0001t0002g0208 a0001c0001t0001g0210 a0001c0001t0002g0208	2	250	0.0080	183	c.259 others(202): Show c.259+22691_259+22692insGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315473	T T	TACCACCA others(176): Show TACCACCATCCTCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCCCCAT ACACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	250	0.0040	183	c.259 others(202): Show c.259+22543_259+22544insGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGA TGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATCATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03669.hp1 NA20300.hp1 HG01175.hp1 HG03669.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0215 a0001c0001t0005g0262 a0001c0001t0005g0062 a0001c0001t0005g0215 a0001c0001t0005g0262	3	338	0.0089	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATATGTTATATATGATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATGATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0306 a0001c0001t0066g0306	1	338	0.0030	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATATGTTATATATCATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATGATATACAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	338	0.0030	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTGTATATCATATATAACATATGTTAT ATATCATATATATGTTATATATAATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG03492.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp1 NA18981.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19058.hp2 NA19067.hp1 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0032 a0001c0001t0047 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0033 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0338 a0001c0001t0002g0140 a0001c0001t0002g0332 a0001c0001t0005g0202 a0001c0001t0005g0323 a0001c0001t0006g0324 a0001c0001t0012g0054 a0001c0001t0012g0087 a0001c0001t0012g0184 a0001c0001t0012g0185 a0001c0001t0017g0133 a0001c0001t0017g0137 a0001c0001t0017g0170 a0001c0001t0017g0223 a0001c0001t0020g0101 a0001c0001t0020g0103 a0001c0001t0020g0211 a0001c0001t0023g0166 a0001c0001t0023g0167 a0001c0001t0032g0163 a0001c0001t0032g0173 a0001c0001t0047g0333 a0001c0001t0063g0335 a0001c0001t0064g0214 a0001c0001t0065g0253 a0001c0001t0067g0055	62	338	0.1834	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATATGTTATATATAATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(176): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATTATATATAACATATGTTATATATC ATATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	338	0.0030	183	c.221 others(202): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATAATATATAACATATGTTAT ATATCATATATATGTTATATATAATATATAACATATGCTATATATCATAT ATATCATATATAACATATGTTATATATGATATATATGATATATAGCATAT GTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083975	A A	ATATGCTA others(176): Show ATATGCTATATATCATATATATCATATATAACATATGTTATATATGATAT ATATGATATATAGCATATGTTATATATTATATATAACATATATATGATAT ATAACATATGTTATATATGATATATAACATATGTTATATATCATATATGT TATATATCATATATGTTATATATCATATATAACG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	338	0.0030	183	c.221 others(202): Show c.221+21521_221+21522insCGTTATATATGATATATAACATATAT GATATATAACATATATGATATATAACATATGTTATATATCATATATAACA TATGTTATATATCATATATATGTTATATATAATATATAACATATGCTATA TATCATATATATCATATATAACATATGTTATATATGATATATATGATATA TAGCATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EML1_chr14_99788413_99947060	99928062	G G	GTGGTGAT others(176): Show GTGGTGATGGTGGTGGTGGTGGTGGTGGTATTGGTGGTGGTGATGGTGGT GGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGGGGTGGGGGTGGGGG TGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0240 a0001c0003t0001g0269 a0001c0003t0001g0240 a0001c0003t0001g0269	2	288	0.0069	183	c.190 others(202): Show c.1909+7190_1909+7191insATGGTGGTGGTGGTGGTGGTGGTATT GGTGGTGGTGATGGTGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGG TGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERBB3_chr12_56075165_56108505	56091334	A A	ATATATAT others(176): Show ATATATATAAATATAAATATATGTTACAAATATATATTATAAATATAAAC ATATAAATATATATTATATATAAATATATATATATGTTTATATTTATAAT ATATATTTGTAACATATATTTATATTTATATATAAATTTATATATATAAA ATATATATATATTTATATAAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0310 a0001c0001t0005g0310	1	392	0.0026	183	c.111 others(202): Show c.1110-1399_1110-1398insAATATATGTTACAAATATATATTATA AATATAAACATATAAATATATATTATATATAAATATATATATATGTTTAT ATTTATAATATATATTTGTAACATATATTTATATTTATATATAAATTTAT ATATATAAAATATATATATATTTATATAAAATATATATATATTTATATAT AAATATA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
EREG_chr4_74360145_74393749	74381825	A A	AATTAGCC others(176): Show AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCT CAAAAAAAAAACAAAAAAAACAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0121 a0001c0001t0016g0201 a0001c0001t0016g0121 a0001c0001t0016g0201	2	358	0.0056	183	c.278 others(198): Show c.278+689_278+690insTTAGCCGGGCGCAGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGG CGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCCCGCCTGGGCGA CAGAACGAGACTCCGTCTCAAAAAAAAAACAAAAAAAACAAAAAAAACAA ACA	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVA1C_chr21_32407706_32520387	32477760	T T	TCACCTCC others(176): Show TCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCG TACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCC TCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTC CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	346	0.0029	183	c.634 others(200): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCTCCCCCCGTACGCCCTCCCCTCCCCCGTACGC CCTCC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(176): Show ATTTTTGTTTTTTTTTTGTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	102	0.0098	183	c.187 others(202): Show c.1871+1103_1871+1104insTTTTTTTTTGTTTTTTTTTTTTTTTT GAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAAT TTTTTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(176): Show ATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	102	0.0098	183	c.187 others(202): Show c.1871+1103_1871+1104insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAAT TTTTTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(176): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02015.hp1 HG01433.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0169 a0001c0001t0032g0165 a0001c0001t0003g0169 a0001c0001t0032g0165	2	264	0.0076	183	c.83+ others(200): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAGAACTAAG GTCTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377624	A A	CGGCTCAC others(176): Show CGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCC CGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAA TCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACA CGCGTCCCTAATCCCAGACGCCCGGGAGAACACA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0137 a0002c0003t0002g0137	1	289	0.0035	183	c.228 others(204): Show c.2284-10664_2284-10663insCGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAACAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10			chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(176): Show CGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0069 a0001c0002t0004g0069	1	289	0.0035	183	c.228 others(204): Show c.2284-10370_2284-10369insCGGGAGAGCACCGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGATGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135A_chr6_70408508_70566174	70538917	C C	CTTTTTTT others(176): Show CTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	268	0.0037	183	c.422 others(200): Show c.4228+517_4228+518insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
FBN2_chr5_128252909_128543245	128540035	T T	TATATCAT others(176): Show TATATCATATATCATATATATCATATATCAATCATATATATCATATATCA TATATCATATATATCATATATCATATATCATATATATCATATATCATATA TCATATATATCATATATATCATATATATCATATATATCATATATCATATA TCATATATCATATATATCATATATATCATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0014 a0001c0014t0014	a0001c0014t0014g0112 a0001c0014t0014g0112	1	236	0.0042	183	c.-24 others(194): Show c.-2433_-2432insGATATATGATATATATGATATATATGATATATGA TATATGATATATGATATATATGATATATATGATATATATGATATATATGA TATATGATATATGATATATATGATATATGATATATGATATATATGATATA TGATATATGATATATATGATTGATATATGATATATATGATATATGATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1791		chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(176): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTC CTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	372	0.0027	183	c.215 others(200): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCT CTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCC TCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(176): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCCTCCTTC CCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCTCCC TCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCC TCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0069 a0069	a0069c0088 a0069c0088	a0069c0088t0021 a0069c0088t0021	a0069c0088t0021g0242 a0069c0088t0021g0242	1	294	0.0034	183	c.426 others(200): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCC TCCCTCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTC CCTCCCTTCCCTCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATTCCCTC CCCAG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar

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