Joint Open Genome and Omics Platform (JoGo)

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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
RPTOR_chr17_80539838_80971368	80744793	C C	CCCTGGTT others(371): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACGAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0134 a0001c0019t0003g0134	1	184	0.0054	378	c.655 others(395): Show c.655-9212_655-9211insTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744916	C C	CAGCCCTG others(371): Show CAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCC TGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACA GCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAG CACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTA CTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTG GCTACTAGCACTGTCCTGGCTACTAGCAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0096 a0001c0035t0096	a0001c0035t0096g0041 a0001c0035t0096g0041	1	183	0.0055	378	c.655 others(395): Show c.655-9086_655-9085insCTACTAGCAGAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAGAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477027	G G	GCCCCCTC others(371): Show GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC CCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACC CCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTC CACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCG GGGGTGCCCTACACCCTCTGACCCCTCCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	313	0.0032	378	c.727 others(393): Show c.727+263_727+264insTGGAGGGGTCAGAGGGTGTAGGGCACCCCC GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477027	G G	GCCCCCTC others(371): Show GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC CCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACC CCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCC CACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCG GGGGTGCCCTACACCCTCTGCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0321 a0002c0003t0001g0321	1	313	0.0032	378	c.727 others(393): Show c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(371): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGATGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA CAGCCCGGGGATGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	122	0.0082	378	c.727 others(391): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCATCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGC TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG GAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(371): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGA GGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAG GAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	2	0.5000	378	c.807 others(395): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC CTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCC TCCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTC CTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCC CTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(371): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGAGGAGGG AGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGG AGGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGG GAGGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGG AGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAG GAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	2	0.5000	378	c.807 others(395): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCCT CCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCTCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(371): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	2	0.5000	378	c.807 others(395): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCC CCTTCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCC TCCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTC CTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCC CTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SART1_chr11_65956734_65985137	65971486	A A	AGCTGCTG others(371): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02572.hp2 others(3): Show HG02109.hp1 HG02280.hp1 HG02572.hp2 HG03041.hp1 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0015 a0001c0003t0003 a0001c0003t0015	a0001c0003t0003g0022 a0001c0003t0003g0060 a0001c0003t0003g0061 others(3): Show a0001c0003t0003g0022 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0015g0022	6	343	0.0175	378	c.157 others(397): Show c.1572+3669_1572+3670insCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(371): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGT TGGGTGAGGGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0142 a0013c0043t0001g0142	1	164	0.0061	378	c.464 others(391): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289187	C C	CCCCGTGT others(371): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0105 a0002c0003t0002g0105	1	272	0.0037	378	c.166 others(397): Show c.1663-1063_1663-1062insCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	A A	AGACCTCA others(371): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAG TGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAG CTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAG ACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGA GCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGA GGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGC AGGAGGGAGCAGACAGCTAGTGGGCAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG03209.hp1 HG00639.hp1 HG02155.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0124 a0002c0003t0001g0145 a0002c0003t0001g0146 a0001c0001t0001g0124 a0002c0003t0001g0145 a0002c0003t0001g0146	3	55	0.0545	378	c.122 others(397): Show c.1222-1895_1222-1894insCCTCAGAAAGTGGGGTGGGCGGCAGG AGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGG CAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGG GCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGG GTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAG TGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAG AAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACC TCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAG GA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431832	T T	TAGGGTGG others(371): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGAGAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	328	0.0030	378	c.101 others(397): Show c.1014-1092_1014-1091insTTAGGGTGGAGAGGGTGGACAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431984	A A	ATAGGGTG others(371): Show ATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGT GGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTA GGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0063 a0001c0003t0002g0063	1	345	0.0029	378	c.101 others(395): Show c.1014-974_1014-973insCAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAG GGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432066	C C	CAGGGTGG others(371): Show CAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGCAGAGGGTGCAG AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGAGAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0297 a0002c0002t0001g0297	1	225	0.0044	378	c.101 others(395): Show c.1014-894_1014-893insTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGG TGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHC2_chr19_411589_466033	434511	C C	CGTGATTG others(371): Show CGTGATTGAGATGGTGAGTCTGTGAGTGAATGAGATCGTGATTGAGATGG TGAGTATGAGTGAATGAAATTGAGATTGTGTGTCTGTGAGATCGTGAGTG AGATCATGAGTACGTGAGACTGTGAGTATGTGAGGGAGTGAGACCGTGAG ATCGTGAGTGAGATCGTGAGTCTGTGAGATCATCAGTGAGATAGTGAGAT CATAAGTCTGTGAGATAGATCGTGAGTGAGATTGTGAGATCGTGAGATCA TGAGTCTGAGATCGTGAGATTGTCAGATCATGAGTCAGTGAGATCGTGAG ATTGTGAGTGAGATCATGAGTGAAATCGTGACTGAGATCGTGAGATCCTG AGTCTGTGAGTGAGTGAATGAGATCGTGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	205	0.0049	378	c.111 others(395): Show c.1110+197_1110+198insTCACGATCTCATTCACTCACTCACAGAC TCAGGATCTCACGATCTCAGTCACGATTTCACTCATGATCTCACTCACAA TCTCACGATCTCACTGACTCATGATCTGACAATCTCACGATCTCAGACTC ATGATCTCACGATCTCACAATCTCACTCACGATCTATCTCACAGACTTAT GATCTCACTATCTCACTGATGATCTCACAGACTCACGATCTCACTCACGA TCTCACGGTCTCACTCCCTCACATACTCACAGTCTCACGTACTCATGATC TCACTCACGATCTCACAGACACACAATCTCAATTTCATTCACTCATACTC ACCATCTCAATCACGATCTCATTCACTCACAGACTCACCATCTCAATCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098324	C C	CCCCCCTC others(371): Show CCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGC CCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGC TCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTTTAA CCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCAACCCTCTGCATGCCCA GCCCCCCTCTAACCCTCTGCACGCCCAGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0079 a0001c0006t0011g0079	1	118	0.0085	378	c.125 others(395): Show c.125-4077_125-4076insCCTGGGCGTGCAGAGGGTTAGAGGGGGG CTGGGCATGCAGAGGGTTGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGG GGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAAAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTG AGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTG GGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098335	C C	CCCTCTGC others(371): Show CCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCT CTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCC CCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCA GCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTTTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACC CTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCT AACCCTCTGCACGCCCAGGCCCCCTCTAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0078	1	118	0.0085	378	c.125 others(395): Show c.125-4088_125-4087insTTAGAGGGGGCCTGGGCGTGCAGAGGGT TAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGA GGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGG GTGTGCAGAGGGTTAAAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAG GGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTA GAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(371): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp1 HG01109.hp2 others(5): Show HG00733.hp1 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG01346.hp1 HG03017.hp2 HG03239.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0003 a0001c0001t0001 a0001c0001t0003 a0002c0003t0003	a0001c0001t0001g0247 a0001c0001t0003g0229 a0001c0001t0003g0232 others(5): Show a0001c0001t0001g0247 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0249 a0002c0003t0003g0230	8	19	0.4211	378	c.209 others(395): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(371): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGC CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	12	0.0833	378	c.209 others(395): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCC CCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC CGGCCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(371): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTTTGGCC GGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCC GGGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0070 a0001c0001t0007g0070	1	12	0.0833	378	c.209 others(395): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCC CGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCCGCC CGGCCAAACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC2A9_chr4_9821224_10026497	9981269	A A	AGTAGTGG others(371): Show AGTAGTGGTGGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGG TGATGATGATGGTAATGTTGATGGCGATAGCAATAGTGATGATGATGGTG ATGGTGATGATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGT AATGATGGTGATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGA TGATGGTGATTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATG GTGGTGGTGCTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGT GGTGGTAGTAGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGA TGATGGTTGTAGCAATGATGATGGTGATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0224 a0002c0008t0001g0224	1	333	0.0030	378	c.536 others(393): Show c.536-533_536-532insAATCACCATCATCATTGCTACAACCATCAT CACCATCAGCACCACCACCATCACCATCATCACCATTACTACTACCACCA CAATCACCATCATCATTGCTACAACCATCATCACCATCAGCACCACCACC ATCACCATCACTATCATCACCATTACTACTACCACCACAATCACCATCAT CATTGCTACAACCATTATCACCATCAGCACCACCACCATCACCATCATTA CCATCACCAGCACCACCACCACCACCATCACTACCATCATCATCACCATC ACCATCATCATCACTATTGCTATCGCCATCAACATTACCATCATCATCAC CACCATCACCATCATCACCATCATGACCATCATTACTACCACCACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(371): Show GGTAGTAATGATGGTCATGATGGTGATGACGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCGGTAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGA TTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTG CTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGT AGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTG TAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0252 a0001c0013t0001g0252	1	2	0.5000	378	c.536 others(393): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTACCGCCATCAACATTACCAT CATCATCACCACCATCACCGTCATCACCATCATGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(371): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCAGTAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGA TTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTG CTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGT AGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTG TAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0098 a0003c0002t0001g0098	1	2	0.5000	378	c.536 others(393): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTACTGCCATCAACATTACCAT CATCATCACCACCATCACCATCATCACCATCATGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(371): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCGATAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGA CTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTG CTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGT AGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTG TAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0177 a0002c0006t0001g0177	1	2	0.5000	378	c.536 others(393): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAGT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTATCGCCATCAACATTACCAT CATCATCACCACCATCACCATCATCACCATCATGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(371): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCGATAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGA TTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTG CTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGT AGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTG TAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01069.hp2 others(54): Show HG00280.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01943.hp1 HG02004.hp2 HG02109.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18964.hp2 NA19043.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0002 a0009 a0011 others(3): Show a0002 a0009 a0011 a0013 a0016 a0017	a0002c0006 a0002c0008 a0002c0039 others(5): Show a0002c0006 a0002c0008 a0002c0039 a0009c0011 a0011c0018 a0013c0041 a0016c0038 a0017c0029	a0002c0006t0001 a0002c0008t0001 a0002c0039t0001 others(5): Show a0002c0006t0001 a0002c0008t0001 a0002c0039t0001 a0009c0011t0001 a0011c0018t0001 a0013c0041t0001 a0016c0038t0001 a0017c0029t0001	a0002c0006t0001g0176 a0002c0006t0001g0183 a0002c0006t0001g0188 others(54): Show a0002c0006t0001g0176 a0002c0006t0001g0183 a0002c0006t0001g0188 a0002c0006t0001g0189 a0002c0006t0001g0190 a0002c0006t0001g0198 a0002c0006t0001g0199 a0002c0006t0001g0200 a0002c0006t0001g0202 a0002c0006t0001g0203 a0002c0006t0001g0204 a0002c0006t0001g0205 a0002c0006t0001g0206 a0002c0006t0001g0215 a0002c0006t0001g0216 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0233 a0002c0006t0001g0238 a0002c0006t0001g0242 a0002c0006t0001g0253 a0002c0006t0001g0275 a0002c0006t0001g0278 a0002c0006t0001g0333 a0002c0006t0001g0335 a0002c0008t0001g0163 a0002c0008t0001g0164 a0002c0008t0001g0165 a0002c0008t0001g0166 a0002c0008t0001g0167 a0002c0008t0001g0168 a0002c0008t0001g0171 a0002c0008t0001g0178 a0002c0008t0001g0180 a0002c0008t0001g0207 a0002c0008t0001g0218 a0002c0008t0001g0219 a0002c0008t0001g0220 a0002c0008t0001g0221 a0002c0008t0001g0222 a0002c0008t0001g0223 a0002c0008t0001g0225 a0002c0008t0001g0240 a0002c0008t0001g0271 a0002c0039t0001g0276 a0009c0011t0001g0039 a0009c0011t0001g0055 a0009c0011t0001g0056 a0009c0011t0001g0057 a0009c0011t0001g0059 a0009c0011t0001g0060 a0011c0018t0001g0208 a0011c0018t0001g0209 a0011c0018t0001g0210 a0013c0041t0001g0182 a0016c0038t0001g0236 a0017c0029t0001g0006	57	58	0.9828	378	c.536 others(393): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTATCGCCATCAACATTACCAT CATCATCACCACCATCACCATCATCACCATCATGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(371): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCGGTAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGA TTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTG CTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGT AGTAATGATGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTG TAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	2	0.5000	378	c.536 others(393): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCATCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTACCGCCATCAACATTACCAT CATCATCACCACCATCACCATCATCACCATCATGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(371): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCGGTAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGA TTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTG CTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGT AGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTG TAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0018 a0019 a0020	a0001c0001 a0001c0016 a0001c0025 others(28): Show a0001c0001 a0001c0016 a0001c0025 a0001c0036 a0002c0015 a0003c0002 a0003c0020 a0004c0003 a0004c0021 a0004c0030 a0004c0031 a0005c0005 a0005c0009 a0005c0037 a0006c0004 a0006c0012 a0006c0024 a0007c0007 a0007c0027 a0008c0010 a0008c0022 a0008c0032 a0009c0019 a0010c0017 a0010c0023 a0012c0014 a0014c0028 a0015c0042 a0018c0026 a0019c0034 a0020c0035	a0001c0001t0001 a0001c0016t0001 a0001c0025t0001 others(28): Show a0001c0001t0001 a0001c0016t0001 a0001c0025t0001 a0001c0036t0001 a0002c0015t0001 a0003c0002t0001 a0003c0020t0001 a0004c0003t0001 a0004c0021t0001 a0004c0030t0001 a0004c0031t0001 a0005c0005t0001 a0005c0009t0001 a0005c0037t0001 a0006c0004t0001 a0006c0012t0001 a0006c0024t0001 a0007c0007t0001 a0007c0027t0001 a0008c0010t0001 a0008c0022t0001 a0008c0032t0001 a0009c0019t0001 a0010c0017t0001 a0010c0023t0001 a0012c0014t0002 a0014c0028t0001 a0015c0042t0001 a0018c0026t0001 a0019c0034t0001 a0020c0035t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(253): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0016t0001g0217 a0001c0016t0001g0246 a0001c0016t0001g0247 a0001c0025t0001g0272 a0001c0025t0001g0273 a0001c0036t0001g0265 a0002c0015t0001g0186 a0002c0015t0001g0187 a0002c0015t0001g0214 a0003c0002t0001g0009 a0003c0002t0001g0010 a0003c0002t0001g0011 a0003c0002t0001g0013 a0003c0002t0001g0017 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0026 a0003c0002t0001g0027 a0003c0002t0001g0035 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0042 a0003c0002t0001g0046 a0003c0002t0001g0049 a0003c0002t0001g0058 a0003c0002t0001g0066 a0003c0002t0001g0067 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0070 a0003c0002t0001g0071 a0003c0002t0001g0074 a0003c0002t0001g0076 a0003c0002t0001g0079 a0003c0002t0001g0081 a0003c0002t0001g0084 a0003c0002t0001g0097 a0003c0002t0001g0100 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0107 a0003c0002t0001g0109 a0003c0002t0001g0112 a0003c0020t0001g0029 a0003c0020t0001g0062 a0004c0003t0001g0005 a0004c0003t0001g0014 a0004c0003t0001g0028 a0004c0003t0001g0032 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0038 a0004c0003t0001g0040 a0004c0003t0001g0050 a0004c0003t0001g0053 a0004c0003t0001g0061 a0004c0003t0001g0087 a0004c0003t0001g0088 a0004c0003t0001g0089 a0004c0003t0001g0090 a0004c0003t0001g0091 a0004c0003t0001g0092 a0004c0003t0001g0093 a0004c0003t0001g0094 a0004c0003t0001g0095 a0004c0003t0001g0101 a0004c0003t0001g0113 a0004c0003t0001g0115 a0004c0003t0001g0117 a0004c0003t0001g0118 a0004c0003t0001g0123 a0004c0003t0001g0124 a0004c0003t0001g0125 a0004c0003t0001g0128 a0004c0003t0001g0129 a0004c0003t0001g0130 a0004c0003t0001g0131 a0004c0003t0001g0136 a0004c0003t0001g0137 a0004c0021t0001g0085 a0004c0021t0001g0086 a0004c0030t0001g0105 a0004c0031t0001g0064 a0005c0005t0001g0249 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0274 a0005c0005t0001g0284 a0005c0005t0001g0285 a0005c0005t0001g0287 a0005c0005t0001g0289 a0005c0005t0001g0294 a0005c0005t0001g0295 a0005c0005t0001g0298 a0005c0005t0001g0300 a0005c0005t0001g0303 a0005c0005t0001g0304 a0005c0005t0001g0307 a0005c0005t0001g0308 a0005c0005t0001g0309 a0005c0005t0001g0312 a0005c0005t0001g0314 a0005c0005t0001g0317 a0005c0005t0001g0318 a0005c0005t0001g0323 a0005c0005t0001g0325 a0005c0005t0001g0327 a0005c0005t0001g0330 a0005c0005t0001g0331 a0005c0009t0001g0248 a0005c0009t0001g0254 a0005c0009t0001g0255 a0005c0009t0001g0256 a0005c0009t0001g0257 a0005c0009t0001g0259 a0005c0009t0001g0260 a0005c0009t0001g0261 a0005c0009t0001g0262 a0005c0009t0001g0263 a0005c0009t0001g0264 a0005c0037t0001g0251 a0006c0004t0001g0280 a0006c0004t0001g0281 a0006c0004t0001g0282 a0006c0004t0001g0283 a0006c0004t0001g0286 a0006c0004t0001g0288 a0006c0004t0001g0290 a0006c0004t0001g0291 a0006c0004t0001g0292 a0006c0004t0001g0293 a0006c0004t0001g0296 a0006c0004t0001g0297 a0006c0004t0001g0299 a0006c0004t0001g0301 a0006c0004t0001g0302 a0006c0004t0001g0305 a0006c0004t0001g0306 a0006c0004t0001g0311 a0006c0004t0001g0313 a0006c0004t0001g0315 a0006c0004t0001g0316 a0006c0004t0001g0320 a0006c0004t0001g0321 a0006c0004t0001g0322 a0006c0004t0001g0324 a0006c0004t0001g0326 a0006c0004t0001g0328 a0006c0004t0001g0329 a0006c0004t0001g0334 a0006c0012t0001g0232 a0006c0012t0001g0234 a0006c0012t0001g0235 a0006c0012t0001g0237 a0006c0012t0001g0239 a0006c0012t0001g0241 a0006c0024t0001g0279 a0006c0024t0001g0310 a0007c0007t0001g0018 a0007c0007t0001g0025 a0007c0007t0001g0030 a0007c0007t0001g0031 a0007c0007t0001g0043 a0007c0007t0001g0044 a0007c0007t0001g0045 a0007c0007t0001g0047 a0007c0007t0001g0052 a0007c0007t0001g0054 a0007c0007t0001g0073 a0007c0007t0001g0075 a0007c0007t0001g0077 a0007c0007t0001g0078 a0007c0007t0001g0080 a0007c0007t0001g0099 a0007c0007t0001g0102 a0007c0007t0001g0106 a0007c0007t0001g0108 a0007c0007t0001g0110 a0007c0007t0001g0120 a0007c0007t0001g0121 a0007c0027t0001g0072 a0008c0010t0001g0008 a0008c0010t0001g0024 a0008c0010t0001g0096 a0008c0010t0001g0111 a0008c0010t0001g0119 a0008c0010t0001g0127 a0008c0010t0001g0132 a0008c0010t0001g0133 a0008c0010t0001g0134 a0008c0010t0001g0135 a0008c0010t0001g0140 a0008c0022t0001g0041 a0008c0022t0001g0114 a0008c0032t0001g0065 a0009c0019t0001g0048 a0009c0019t0001g0082 a0010c0017t0001g0266 a0010c0017t0001g0319 a0010c0017t0001g0332 a0010c0023t0001g0172 a0012c0014t0002g0002 a0012c0014t0002g0003 a0012c0014t0002g0004 a0014c0028t0001g0051 a0015c0042t0001g0244 a0018c0026t0001g0122 a0019c0034t0001g0015 a0020c0035t0001g0226	256	257	0.9961	378	c.536 others(393): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTACCGCCATCAACATTACCAT CATCATCACCACCATCACCATCATCACCATCATGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC5A9_chr1_48217716_48253638	48244731	A A	ATATTTAT others(371): Show ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAA TTATATTTATATTATATATAAATTATATT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	401	0.0025	378	c.183 others(397): Show c.1837+2118_1837+2119insTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAA TTATATTTATATTATATATAAATTATATTTATATTATATATAAATTATAT TTATATTATATATAAATTATATTTATATTATATATAAATTATATTTATAT TATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATA TAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT AT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC8A1_chr2_40092270_40457090	40200228	A A	ATATATAT others(371): Show ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATATTTATATATATATAAATATATATATATATTTATATATATATATAAAT ATATATATATATTTATATATATATATAAATATATATATATATTTATATAT ATATATAAATATATATATATATTTATATATATATATAAATATATATATAT ATTTATATATATATATAAATATATATATATATTTATATATATATAAATAT ATATATATATTTATATATATATATAAATATATATATATATTTATATATAT ATAAATATATATATATATTTATATATATATAAATATATATATATTTTTTT ATATATATATATAAATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0083 a0001c0001t0053g0083	1	231	0.0043	378	c.180 others(399): Show c.1809-21736_1809-21735insAATATATATATATATTTATATATA TATATAAAAAAATATATATATATTTATATATATATAAATATATATATATA TTTATATATATATAAATATATATATATATTTATATATATATATAAATATA TATATATATTTATATATATATAAATATATATATATATTTATATATATATA TAAATATATATATATATTTATATATATATATAAATATATATATATATTTA TATATATATATAAATATATATATATATTTATATATATATATAAATATATA TATATATTTATATATATATATAAATATATATATATATTTATATATATATA AATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(371): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0117 a0008c0010t0001g0117	1	6	0.1667	378	c.138 others(397): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRXN1_chr20_641615_658200	642007	G G	GGGGGGAG others(371): Show GGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGG GGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTG GGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	407	0.0025	378	c.67 others(389): Show c.6706_*6707insAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4607		chr20	TogoVar
SRXN1_chr20_641615_658200	642207	T T	TGCCCAGC others(371): Show TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCG GGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATG GGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	3	368	0.0082	378	c.65 others(389): Show c.6506_*6507insCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTG GGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4407		chr20	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GGCCCAGC others(371): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	6	0.1667	378	c.64 others(389): Show c.6413_*6414insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(371): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GTGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0038 a0001c0001t0013g0038	1	338	0.0030	378	c.63 others(389): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCACCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TTATATAA others(371): Show TTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATATAT GATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCAT ATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAA TATATGATATTTTATATCATATATTTTATATAAAATATATGATATTTTAT ATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTTATA TAAAATATATGATATTTTATATCATATATTTTATATAAAATATATTATAT TTTATATCATATATTTTATATAAAATATATTATATTTTATATCATATATT TTATATAAAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0246 a0001c0001t0007g0246	1	285	0.0035	378	c.52+ others(393): Show c.52+2475_52+2476insTGATATAAAATATAATATATTTTATATAAA ATATATGATATAAAATATAATATATTTTATATAAAATATATGATATAAAA TATAATATATTTTATATAAAATATATGATATAAAATATCATATATTTTAT ATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATGATA TAAAATATCATATATTTTATATAAAATATATGATATAAAATATCATATAT TTTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATA TGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATATCA TATATTTTATATAAAATATATGATATAAAATATCATATATTTTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(371): Show GTATATATACGTGTATATATACACGTGTATATATACACGTGTATATATAT ACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATAT ATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	87	0.0115	378	c.271 others(395): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACACACGTATATATATA CACGTGTATATATACACACACGTATATATATACACGTGTATATATACACA CACGTATATATATACACGTGTATATATACACACACGTATATATATACACG TGTATATATACACACACGTATATATATACACGTGTATATATACACACACG TATATATATACACGTGTATATATACACGTGTATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(371): Show GTATATATACGTGTATATATATACGTGTATATATACACGTGTATATATAT ACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATAT ATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0305 a0001c0001t0004g0304 a0001c0001t0001g0305 a0001c0001t0004g0304	2	88	0.0227	378	c.271 others(395): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACACACGTATATATATA CACGTGTATATATACACACACGTATATATATACACGTGTATATATACACA CACGTATATATATACACGTGTATATATACACACACGTATATATATACACG TGTATATATACACACACGTATATATATACACGTGTATATATACACACACG TATATATATACACGTGTATATATACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(371): Show GTATATATACGTGTATATATATACGTGTATATATACACGTGTATATATAT ACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATAT ATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0303 a0001c0001t0006g0303	1	87	0.0115	378	c.271 others(395): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACATATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACACACGTATATATATA CACGTGTATATATACACACACGTATATATATACACGTGTATATATACACA CACGTATATATATACACGTGTATATATACACACACGTATATATATACACG TGTATATATACACACACGTATATATATACACGTGTATATATACACACACG TATATATATACACGTGTATATATACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(371): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACAC GTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGT GTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGT ATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGT ATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATAT ATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATAT ATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	87	0.0115	378	c.271 others(395): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACGTA TATATACACGTATATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(371): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT ATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATAT ATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATAT ATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	87	0.0115	378	c.271 others(395): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACGTATATATATACACGTGTATATATACACACACGTATATATATA CACGTGTATATATACACACACGTATATATATACACGTGTATATATACACA CACGTATATATATACACGTGTATATATACACACACGTATATATATACACG TGTATATATACACGTATATATATACACGTATATATACACACACACGTATA TATATACACGTATATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(371): Show TGTGGTATGGGGAGGGAAGGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGG GGAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGGAAGGAGGAGACG GCGGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGG GAGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGG CGGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGG CGTGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAG GGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATG GGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	72	0.0139	378	c.309 others(397): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCC TCCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCC ACGCCCTCCCTCCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCAT CCGCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCC CTCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCC CGCCGTCTCCTCCTTCCCCCCCACCACAACCTCCCTCCCCCACCACACCC TCCCCCCACTGCACCCTCCCTCCCCTGCCACCCCCTTCCCTCCCCATACC AC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46772316	T T	TACACATA others(371): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACACACATA TATATGTATACACACACACATATATATGTATACACACACATATATATGTA TACACACATACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACATACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACACATACACATATATGTA TACACACATACACATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	96	0.0104	378	c.62+ others(393): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACACACATATATATGTATACACACACACATATATATGTATA CACACACATATATATGTATACACACATACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACACATATATGTATACACACATACACATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82911331	T T	TGAGCACA others(371): Show TGAGCACAGGAAGCTCAGGCGGGGGCAAGAGGAAAGCTGAGCAGAGGCGA AGCTCCTTACACACCCGAGTCCAGGCGAACCTCTGCGCCTGATTCCCAAG CCTCTGATACCCCCCGGGGGTTAGGACAGTCGGGCATTTTTTCTTTGCTG ATTCTTTTTTAGCATGTGAGGAGGAGGGAAGCGTAGAACACATTTTAGAC TGTTCCACAGAGTATTAAAGGAAAAGCCTGATTTCATAGACATTCCTGAT GGCAGCAGCCGACCCCAAGGTCCAGGGAGCTGGATTCCCCGACACAGCTC CTGGGGCCCTGCTGTTGTGGACAGCCCATCCCACGCCACCCTCAGCCCCT CGCTGTGGGACTGTGAGTGTGAGTGTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp2 HG01891.hp1 NA20300.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0023 a0002c0007t0023	a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0007t0023g0172 a0002c0007t0023g0173	2	316	0.0063	378	c.200 others(395): Show c.2007-426_2007-425insAGCACAGGAAGCTCAGGCGGGGGCAAGA GGAAAGCTGAGCAGAGGCGAAGCTCCTTACACACCCGAGTCCAGGCGAAC CTCTGCGCCTGATTCCCAAGCCTCTGATACCCCCCGGGGGTTAGGACAGT CGGGCATTTTTTCTTTGCTGATTCTTTTTTAGCATGTGAGGAGGAGGGAA GCGTAGAACACATTTTAGACTGTTCCACAGAGTATTAAAGGAAAAGCCTG ATTTCATAGACATTCCTGATGGCAGCAGCCGACCCCAAGGTCCAGGGAGC TGGATTCCCCGACACAGCTCCTGGGGCCCTGCTGTTGTGGACAGCCCATC CCACGCCACCCTCAGCCCCTCGCTGTGGGACTGTGAGTGTGAGTGTGGAG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	22/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1628842	G G	GGTGGGGT others(371): Show GGTGGGGTGGGAAGGGGACAGCAGAACTCACAGGGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAACTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGC GGGAAGGGGACAGCAGAACTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0020 a0006c0012t0020	a0006c0012t0020g0260 a0006c0012t0020g0260	1	333	0.0030	378	c.299 others(395): Show c.299-1417_299-1416insTCCCCTGTGAGTTCTGCTGTCCCCTTCC CGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGTTCTGCTGTCCCCT TCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCACCCCAC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1290288	G G	GGACACCC others(371): Show GGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCC GGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGG CGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTG AACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACAC CCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTGCACGTGACAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00642.hp2 others(26): Show HG00323.hp1 HG00544.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01081.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02080.hp1 HG02165.hp1 HG02602.hp1 HG02735.hp2 HG02895.hp1 HG03139.hp2 HG03209.hp2 HG03831.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19087.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0217 a0001c0001t0001g0347 a0001c0001t0001g0348 others(26): Show a0001c0001t0001g0217 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0375 a0001c0001t0002g0205 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0002g0357 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0002g0372	29	385	0.0753	378	c.157 others(397): Show c.1573+3024_1573+3025insTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCAC GTTCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAG GCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTG TC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290288	G G	GGACACCC others(371): Show GGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCC GGGGACGGCGCCTCACTCACCCTGCATGTGACAGAGACACCCGGGGACGG CGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTG AACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACAC CCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTGCACGTGACAGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	357	0.0028	378	c.157 others(397): Show c.1573+3024_1573+3025insTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCC CGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCAC GTTCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAG GCGCCGTCCCCGGGTGTCTCTGTCACATGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTG TC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291433	A A	ACGGCGCC others(371): Show ACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCACTCAC CCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGGGACACCTGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGG ACACCTGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCTGG GGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTG CCTCACTCACCCTATACCTGGGAGGGACACCCAGGGACGGTGCCTCACTC ACCCTACACGTGACAGGGACACCCTGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	171	0.0058	378	c.157 others(397): Show c.1573+1879_1573+1880insCCCCAGGGTGTCCCTGTCACGTGTAG GGTGAGTGAGGCACCGTCCCTGGGTGTCCCTCCCAGGTATAGGGTGAGTG AGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGG TCCCCAGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCAGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCAGGTGTCCCTG TCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAG TGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGC CG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(371): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	188	0.0053	378	c.227 others(397): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(371): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0057 a0004c0006t0002g0057	1	188	0.0053	378	c.227 others(397): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar

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