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
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(686): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCC TCCCCCTTCCCCCTCTCCTACCCCCTCCCCCTTACCCTCCCCCTTCCCCC CCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCT CCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCTCCCCTCTCCCTCTCCC CTCTCCCCTCCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCCCCTCCCCTC CCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	10	0.1000	693	c.-25 others(712): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCT CCCCCTTCCCCCTCTCCTACCCCCTCCCCCTTACCCTCCCCCTTCCCCCC CCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTC CCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCTCCCCTCTCCCTCTCCCC TCTCCCCTCCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCCCCTCCCCTCC CCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCC TCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(686): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCT CCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTT CCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC CCCTTCTCTTCCTCCTCCTCCCTTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	8	0.1250	693	c.424 others(710): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCC TCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTT CCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCCTCCTCCTCCCCTT CTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM48_chr11_55257155_55276114	55273230	T T	TTATATAT others(686): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTGTATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATAAAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	265	0.0038	693	c.27 others(704): Show c.2795_*2796insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTGTATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAA AAATTATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2117		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028882	A A	AAAGACCC others(686): Show AAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTAAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAA GACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC CATCACACCGTCCTAAAGACCCCACACACACTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG03195.hp1 others(1): Show HG02258.hp2 HG03139.hp2 HG03195.hp1 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0008 a0005c0005t0002g0198 a0005c0005t0002g0200 a0005c0005t0002g0008 a0005c0005t0002g0198 a0005c0005t0002g0200	4	81	0.0494	693	c.225 others(712): Show c.2251+1547_2251+1548insCAGGATGGTGTGATGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGT CTTTAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAG GATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTA CGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGA GTGTGTGTGGGGGTCTT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028975	C C	CCCCACAC others(686): Show CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCACACACACAC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAA GACCCCCATCACACCGTCCTAAAGACCCACACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT AAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18995.hp1 HG02523.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0138 a0002c0002t0001g0013 a0002c0002t0001g0138	2	202	0.0099	693	c.225 others(712): Show c.2251+1454_2251+1455insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCT TTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAT GGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGTGGGTCTTTAG GACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGTGTGTGTGTGGGTCTTTAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029276	A A	ACCCCACA others(686): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACA CTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACC CCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0081 a0003c0003t0001g0081	1	199	0.0050	693	c.225 others(712): Show c.2251+1153_2251+1154insGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTC TTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTA CGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(686): Show ATTTGTGGTTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGATATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTTTGTGTGTGTGGTATTTGTGGTGTGTATGTACAGTGCGGGGTGTGTGT AGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTGTGGTGT GTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTT GTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTG TGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGGGGTGTGGTGTGTTCGT GGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTG TGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGT GGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGT GGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGTG GTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTT TGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	10	0.1000	693	c.36 others(708): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGATATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTTTGTGTGTGTGGTATTTGTGGTGTGTATGTA CAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGT ATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGT GGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGT GGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGG GGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGG AGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGT GGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGG GTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGG GGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(686): Show ATTTGTGGTTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTGGTGTGTATGTACAGTGCGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTGTGGT GTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGT GTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGT TTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTG TGTGGTATGTTTGTGTGGTGTGTGTGTATGTGGGGGTGTGGTGTGTTCGT GGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTG TGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGT GGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGT GGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGTG GTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTT TGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02071.hp1 HG01243.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0258 a0001c0001t0002g0271 a0001c0001t0001g0258 a0001c0001t0002g0271	2	11	0.1818	693	c.36 others(708): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTGGTGTGTATG TACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGT GTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTG TATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTAT GTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTATGTGG GGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGG AGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGT GGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGG GTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGG GGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(686): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0281 a0001c0003t0003g0281	1	74	0.0135	693	c.218 others(710): Show c.2182+158_2182+159insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(686): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGGGGGA GGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAGGTAGGCAGGGAAG GGAGGGGAGGGAGGGAGAGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGG GAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGG AAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGGA GGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGG AGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAG GGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAAGGGGAG GGAGGGGAGGGAAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGG GAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGA AGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGT GGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG04204.hp1 NA18983.hp2 others(1): Show HG03491.hp1 HG04204.hp1 NA18983.hp2 NA18998.hp2	a0002 a0008 a0002 a0008	a0002c0006 a0008c0021 a0002c0006 a0008c0021	a0002c0006t0001 a0002c0006t0003 a0008c0021t0001 a0002c0006t0001 a0002c0006t0003 a0008c0021t0001	a0002c0006t0001g0208 a0002c0006t0003g0131 a0008c0021t0001g0072 others(1): Show a0002c0006t0001g0208 a0002c0006t0003g0131 a0008c0021t0001g0072 a0008c0021t0001g0086	4	75	0.0533	693	c.205 others(712): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTCCCTCCCT CTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCTCCCCTCC CCTCCCTGCCTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCC TCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCC TTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCT CCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTCCCTCC TCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTCCCC TTCCCTCCCTCCCCTCCCTCCCCCCCTCCCTCCCCTCCCTTCCCTGCCTA CCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCC CTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCT CCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZIM2_chr19_56769547_56845726	56772788	C C	CACTGCAC others(686): Show CACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCTGCCTCAAAAAAAAA AAAAAACAAAAAAGTTCAAACAAAAGACTTCAATTCATCTGTGGCTTTTT TGAGGCCTGACTTAAATCCTGTCATATCCTAATATGGGTTCATCATGCAG ATTCTTCAAGGAGAAGAGGGTTGTGGAGGAGAGGTAAGTGGTTTATAATC CTTCCCTAGAGAAAAAAAATCAACACAACTTTTAAACCCTGCTAGAATGA GGCTAGGAGTGTTTCTAAAACCTTCAAGATACAGACATTTTGGCTCAGAA ATTCCACTGCTGAGAATTTCCCCTTAGGAAACAAGACCAGATGCAAAGAC GTTAGAGCAAATCAATAAGGAAAAATGCCAAAACCCCAAAACCCAAGGGC TAAAGGGGTGGAAGCATAACTATAGCAGCAATGTGTATATAAGAGATAAA CTGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCT GAGGTGGGCGAATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCATCTCTACTAGAAATACAAAAAAATTAGCTGGGCGTGGT GGCGGGCGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGG TGTGAACCCGCGAGGTGGAGCTTGCAGTGAGCCAACATTGCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	368	0.0027	693	c.18 others(704): Show c.1899_*1900insAGCGCAATGTTGGCTCACTGCAAGCTCCACCTCG CGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTATCTGGGACTACA GGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTCTAGTAGAGATG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATT CGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGC GCCCGGCCAGTTTATCTCTTATATACACATTGCTGCTATAGTTATGCTTC CACCCCTTTAGCCCTTGGGTTTTGGGGTTTTGGCATTTTTCCTTATTGAT TTGCTCTAACGTCTTTGCATCTGGTCTTGTTTCCTAAGGGGAAATTCTCA GCAGTGGAATTTCTGAGCCAAAATGTCTGTATCTTGAAGGTTTTAGAAAC ACTCCTAGCCTCATTCTAGCAGGGTTTAAAAGTTGTGTTGATTTTTTTTC TCTAGGGAAGGATTATAAACCACTTACCTCTCCTCCACAACCCTCTTCTC CTTGAAGAATCTGCATGATGAACCCATATTAGGATATGACAGGATTTAAG TCAGGCCTCAAAAAAGCCACAGATGAATTGAAGTCTTTTGTTTGAACTTT TTTGTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTCCCCCAGGCTG GAGTGCAGT	ZIM2	ENSG00000269699.7	transcript	ENST00000629319.3	protein_coding		1758		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(686): Show ATATATATCATATATGTGATATATATCATATATATCACATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATATATCA CATATATGATATATATCATATATGTGATATATATCACATATGTGATATAT ATCATATCACATATCATATGACATCATATCACATATCACATATCACATAT CACATATCACATATCATATGATATATATCACATGTGATATATAGCATATG TGATATATATCATATATATCACATGTGATATATAGCATATGTGATATATA TCATATATATCACATGTGATATATAGCATATGTGATATATATCATATATA TCACATATGATATATAGCATATGTGATATATATCATATATATCACATATG CTATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGC ATACGTGATATATATCATATATATCATATATGATGTATAGCATGATATAT ATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATATAT AGCATATATATCACATGTGATATATAGCATATGTGATATATATGATATAT GTGATATATATCATATGTGATATATATGATATATATCACATATATATGAT ATATATCACATATATATCATATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	243	0.0041	693	c.-34 others(704): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CACATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATATATCACATATATGATATATATCATATATGTGATATATATC ACATATGTGATATATATCATATCACATATCATATGACATCATATCACATA TCACATATCACATATCACATATCACATATCATATGATATATATCACATGT GATATATAGCATATGTGATATATATCATATATATCACATGTGATATATAG CATATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGA TATATATCATATATATCACATATGATATATAGCATATGTGATATATATCA TATATATCACATATGCTATATAGCATATGTGATATATATCATATATATCA CATATGCTATATAGCATACGTGATATATATCATATATATCATATATGATG TATAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATA TCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTG ATATATATGATATATGTGATATATATCATATGTGATATATATGATATATA TCACATATATATGATATATATCACATATATATCATATATATCATATATAT CATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(686): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCT TCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCC TCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTC CCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCC TCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCT CCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCC CCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTT CCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCC CCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCC CTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTC CCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCC CTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	9	0.1111	693	c.4-1 others(706): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCC CTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCC CCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCT CCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCT TCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCC TCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCC CTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCT CCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCC CCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTC TCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCC TCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCAC CTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCC CCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(686): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCT CCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCC CCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTT CCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCC CCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCC CTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTC CCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCC CTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	9	0.1111	693	c.4-1 others(706): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCCTCCTCCCTCCCCTCCCCCTCCCC TCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCC CTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCT CCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCC CCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTC TCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCC TCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCAC CTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCC CCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF862_chr7_149833375_149872479	149858875	A A	ATGGGCCA others(686): Show ATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGG CAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGT GGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGC AGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTG GGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCA GAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGG GCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAG AGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGG CCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGA GGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGC CAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAG GGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	292	0.0034	693	c.111 others(710): Show c.1118-515_1118-514insGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACG CGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGG GGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGC GTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGG CAGAGGGGCACACGC	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(687): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCAT CCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACC CATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG02486.hp1 HG00639.hp1 HG01361.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0070 a0002c0002t0079 a0002c0002t0019 a0002c0002t0070 a0002c0002t0079	a0002c0002t0019g0158 a0002c0002t0070g0120 a0002c0002t0079g0186 a0002c0002t0019g0158 a0002c0002t0070g0120 a0002c0002t0079g0186	3	9	0.3333	694	c.775 others(709): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGG TGGGTATATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGG GTAGGTAAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGA ATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAAT GGATGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGG ATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAAT GGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGG ATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGT GGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAAATGGG TGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGG GTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581417	C C	CACGTATA others(687): Show CACGTATATACGTATACGTGTACACACATATATACACGTATATACGTATA CGTGTACACACACATATATACACGTATATACGTATACGTGTACACACACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACATACACGTATATACCTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATATACGTATACGTGTACACACATATACGTATA CGTGTACACACATATATACGTATACGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0099 a0001c0001t0036g0099	1	153	0.0065	694	c.48- others(711): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATACACGTATATACGTATACGTGTACACACACATATATACACGTATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTAC ACACATACACGTATATACCTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATATACGTATAC GTGTACACACATATACGTATACGTGTACACACATATATACGTATACGTGT ACACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
AGPAT2_chr9_136668143_136692457	136675511	G G	GAGCAGGG others(687): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTA GGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGA CTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCA GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG AGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAG GGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGC CAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTA GGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGA CTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGACTGGC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	308	0.0032	694	c.589 others(709): Show c.589-705_589-704insGCCAGTCCCAGCCTACCTGCTGGCCCCCTC CCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGC TGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCC CCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTAC CTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCC CCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTC CCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCC AGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAG CCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGC TGGCCCCCTCCCTCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTC CCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGC TCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCC CAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACC TGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCC CCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AHRR_chr5_316714_443285	318048	T T	TACCTCCC others(687): Show TACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCC CCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCC CGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCC TGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTC GCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTC CACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCC CTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCAC CTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02273.hp1 others(15): Show HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0002c0002 a0004c0003 others(2): Show a0001c0001 a0002c0002 a0004c0003 a0006c0006 a0007c0007	a0001c0001t0022 a0001c0001t0032 a0002c0002t0007 others(10): Show a0001c0001t0022 a0001c0001t0032 a0002c0002t0007 a0004c0003t0007 a0004c0003t0013 a0004c0003t0022 a0004c0003t0033 a0004c0003t0034 a0004c0003t0037 a0006c0006t0030 a0006c0006t0031 a0007c0007t0023 a0007c0007t0035	a0001c0001t0022g0222 a0001c0001t0032g0226 a0002c0002t0007g0028 others(15): Show a0001c0001t0022g0222 a0001c0001t0032g0226 a0002c0002t0007g0028 a0004c0003t0007g0220 a0004c0003t0007g0234 a0004c0003t0007g0241 a0004c0003t0007g0244 a0004c0003t0013g0232 a0004c0003t0013g0233 a0004c0003t0013g0248 a0004c0003t0022g0247 a0004c0003t0033g0242 a0004c0003t0034g0235 a0004c0003t0037g0240 a0006c0006t0030g0231 a0006c0006t0031g0239 a0007c0007t0023g0224 a0007c0007t0035g0228	18	262	0.0687	694	c.-37 others(705): Show c.-3782_-3781insACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTG CACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCC CCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC TCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCC CCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCAC CCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACC TCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCC CCAACCCTGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3665		chr5	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(687): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCC GCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCC GCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCT CCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACC TCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACC CTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCC CCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG03130.hp1 others(1): Show HG02145.hp1 HG03041.hp2 HG03130.hp1 HG03540.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0009 a0004c0003t0007 a0004c0003t0009	a0004c0003t0007g0237 a0004c0003t0009g0225 a0004c0003t0009g0227 others(1): Show a0004c0003t0007g0237 a0004c0003t0009g0225 a0004c0003t0009g0227 a0004c0003t0009g0243	4	184	0.0217	694	c.-37 others(705): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCC TGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCT GCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCC CCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACC CTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCC CCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCT CCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTC CACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC ACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCC CAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(687): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC CTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCA CCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCC GCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCC GCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCT CCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACC TCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACC CTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCC CCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18906.hp2 HG02809.hp2 NA18906.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0023 a0004c0003t0009 a0004c0003t0023	a0004c0003t0009g0229 a0004c0003t0023g0230 a0004c0003t0009g0229 a0004c0003t0023g0230	2	182	0.0110	694	c.-37 others(705): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCT CCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCT CACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCC TGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCT GCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCC CCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACC CTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCC CCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCT CCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTC CACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC ACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCC CAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(687): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCCGACGCG TGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	223	0.0045	694	c.36 others(705): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTC CGGGCCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374760	A A	AGGAAGGG others(687): Show AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAAGAGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT GGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAG GGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0022 a0001c0024t0003g0022	1	171	0.0058	694	c.784 others(709): Show c.784-657_784-656insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGAAGAGAGGGAGGGAGGAGGAAGGG AGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGA GGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(687): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGT GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGT GAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG ACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02165.hp2 NA18986.hp1 others(2): Show HG00408.hp1 HG02165.hp2 NA18986.hp1 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0122 a0001c0001t0002g0141 others(1): Show a0001c0001t0002g0029 a0001c0001t0002g0122 a0001c0001t0002g0141 a0001c0001t0002g0222	5	264	0.0189	694	c.513 others(709): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGATGGGTGAGC GTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(687): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGAAGGGG GATCCTCACGGGGAAGGGCATCCTCATGGGGAGGGGGATCCTCAGGGGGA GGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCT CCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGG GATCCTCACAGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGA AGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAG GGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCT CCTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAG GGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGG GAGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTT GGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0044 a0001c0005t0005g0044	1	5	0.2000	694	c.234 others(715): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAG GGGGATCCTCAGGGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCATGG GGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCC TCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGA AGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGGATCCTCAGGG GGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTC ACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCT CACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGAT CCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGG AAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAG GGGGAGGTGGATCCTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCC TCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGG GGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(687): Show TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACACTCACATA CAGACACAACCACACCACACACACACACACACACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACAACCACACCACACTCAC ACACACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACACACACTCACATACAGACAC AACCACACCACACACACACACACACATACAGACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	421	0.0024	694	c.193 others(711): Show c.1938+645_1938+646insCACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACACTCACATACAGACACAACCACACCACACACACACACACACACAT ACAGACACAACCACACCACACACACACATACACACTCACATACAGACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACAC TCACATACAGACACAACCACACCACACACACACACACACATACAGACACA ACCACACCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(687): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGGAG GGGGGAGGAGGGGGAGCTGGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGG GGGAGCTGGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAG CTGGGGGAGGGGGAGGAGGGGGAGCTGGGGGGAGGAGGGAGGAGGGGGAG GGGGAGCAGGGAGGGGGGAGGAGGGGGGGGGGGGGGGGAGGGGGGGGAGC AGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGG GGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGGAGCAGGGGAGG GGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	11	0.0909	694	c.-26 others(703): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCTCCCCTGCTCCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCCCCTCCCCCCCCCCCCCCCCTCCTCCCCCCTCC CTGCTCCCCCTCCCCCTCCTCCCTCCTCCCCCCAGCTCCCCCTCCTCCCC CTCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCA GCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCCAGCTCCCCC TCCTCCCCCCTCCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1333502	G G	GGGGGGGA others(687): Show GGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGT AGACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGA GGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACT ACTGTATACACACCAGATGAGGATAAGGGGGGGACTACTGTAGACACACC GGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGG GGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATA CACACCGGATGAGGATAAGGGGGACTACTGTATACACACGGGATGAGGAT GAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAG ACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGG ATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTAC TGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGA TGAGGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGG ACTACTGTATACACACCGGATGAGGATAAGGGGGACTACTGTATACACAC GGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 HG02572.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	2	360	0.0056	694	c.891 others(709): Show c.891+786_891+787insTTATCCTCATCTGGTGTGTATACAATAGTC CCTCATCCTCATCCCGTGTGTATACAGTAGTCCCCCTTATCCTCATCCGG TGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTATCTACAGTAGT CCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCA TCCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGT ATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCCCCCTTA TCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTA TCTACAGTAGTCCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCC CCCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCCTTATCCTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTAT ACAGTAGTCCCCCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CMIP_chr16_81439808_81716762	81704601	C C	CCCCCCCA others(687): Show CCCCCCCACCCACTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTC CCCCTTACTCTCCTCCCTGCCCCCTCACCCCTCCTCCCTGCCCCCCACCC TCCTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGC TCCCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCC TCCTCCCTCACCCTCCCCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCC TCACCCTTCTCCCTGCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTC CCTGCCCCCTCACCCTCCTCCCTACCCCTCACCCTCCTCCCTGCCCCTTC ATCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTC CCTGCTCCCTCACCCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCCCT CACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTC CCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCT CACCTTCCTCCCTGCCCCTTCACCCTCCTCCCTGCCCACTCACCCTCCTC CCTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCT CACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	213	0.0047	694	c.209 others(711): Show c.2091+517_2091+518insCCCCCACCCACTCACCCTCCTCCCTGCC CCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCC CTCCTCCCTGCCCCCCACCCTCCTCCCTGCCCCCTTACTCTCCTCCCTGC CCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGTCCCCTCACC CTCCTCCCTCACCCTCCCCCTCCTCCCTCACCCTCCCCCTCCTCCCTCCC CCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCCCT CCCTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTACCCCTC ACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCC CTGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCAGTGCCCCCT CACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTC CCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCT CACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCTCCTC CCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCCT CACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCCT CCCTACCCCTTCATTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(687): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTC CTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTT CCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCC TCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	2	0.5000	694	c.162 others(715): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCC TCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTC CTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCT CCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(687): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCAGTGCATGTGTGCATGTTT GTGGAGGTGTATGCATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGT GTGCACGTTTGTGGAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGG AGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGGTGTATG TGTGGAGGTGTGTGTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAG GTGTATGCATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGTGTGCAC GTTTGTGGAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGT GTATATGTGTACACATGCGTGTGTGCACGTTTGTGGAGGTGTGTGTGTGT ACGTGTGTGTGCATGTTTGTGGTGGTATGTGTATGTGTGGAGGTGTGTAT GTGTGCACGTGCATGTGTGCATGTTTGTGGAGGTGTATGTGTGCACGTGC ATGCACATTTGTGGACGTGTGTGCATGTGTGTGCATGTTTGTGGAGGTGT GTGTGCGCGTGCGTGTATGCATGTTTGTGGAGGTGTGTGTGTGTACATGT GTGTATGCATGTTTGTGGAGGTGTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02647.hp2 others(6): Show HG01109.hp2 HG02055.hp1 HG02647.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03540.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0010 others(4): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0017 a0001c0026	a0001c0001t0001 a0001c0008t0002 a0001c0010t0007 others(6): Show a0001c0001t0001 a0001c0008t0002 a0001c0010t0007 a0001c0012t0002 a0001c0014t0001 a0001c0014t0004 a0001c0017t0005 a0001c0017t0007 a0001c0026t0001	a0001c0001t0001g0094 a0001c0008t0002g0134 a0001c0010t0007g0155 others(6): Show a0001c0001t0001g0094 a0001c0008t0002g0134 a0001c0010t0007g0155 a0001c0012t0002g0061 a0001c0014t0001g0120 a0001c0014t0004g0019 a0001c0017t0005g0151 a0001c0017t0007g0149 a0001c0026t0001g0039	9	57	0.1579	694	c.275 others(713): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACACCTCCACAAACATG CATACACGCACGCGCACACACACCTCCACAAACATGCACACACATGCACA CACGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATG CACACATGCACGTGCACACATACACACCTCCACACATACACATACCACCA CAAACATGCACACACACGTACACACACACACCTCCACAAACGTGCACACA CGCATGTGTACACATATACACACCTCCACAAACATGCACACACACACGTG CACACACACCTCCACAAACGTGCACACACTCACTCACACACCTTCACAAA TGCACACGCATGCATACACCTCCACAAACATGCACACATGCACTGCACAC ATACACACACACCTCCACACATACACCTCCACAAACATGCATACACACAT TACACACATACACACACCTCCACAAACATGCACACACACACGTGCACACA CACCTCCACAAACGTGCACACACTCACTCACACACCTTCACAAATGCACA CGCATGCATACACCTCCACAAACATGCACACATGCACTGCACACATACAC ACACACCTCCACACATACACCTCCACAAACATGCATACACACATTACACA CATACACACACCTCCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
CROCC2_chr2_240901336_240998311	240924554	A A	ACACTGAC others(687): Show ACACTGACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCC CACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCC CCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGC CCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTAACCCGG CCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACACTGAC CCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTA ACCCGGTCCCCACACTAACCCGGTCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCCACACTAACGCAGTCCCCCACACTAACCCAGTC CCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTGACCCG GCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACC CAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0151 a0012c0013t0001g0151	1	216	0.0046	694	c.489 others(711): Show c.489-1170_489-1169insCACTGACCCAGCCCCCACACTGACCCGG CCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCA GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAAC CCGGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACACT GACCCGGCCCCCCACACTGACCCAGTCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGTCCCCACACTAACCCGGTCCCCACACTAACCCGGTCCCCA CACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTC CCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACGCA GTCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647413	A A	AATCCTCC others(687): Show AATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCTTACTCCACACCCCTCCTCCAACCCCTCCTCC ACAGACCTCCCTCTCGTCCACACCCCTCCAATTCCACAGCCCTCCTCCAA CTCCACACACCCAATCCTCCTCCAGTCCTCCTCCTCCACACACCTTCTCC TCCACACACCTTCTCCTCCACACCTCACCTCCTCCTGCACACCCCTACCC CACCGCACCCCTCCCCCTCCTCCTCCACACTCACTCAACACCCCTCCTCC TCCTCATCCCTCCCCTTTCACACCCCTCCTCAACTTCCACACCCCTCCCC CTCCTCACCCCTCCCACTTCAACTCTCCTCCTCACCCCTCCTCCTCTGCC ACACCCCTACTCCTCCTCACCCATCATCCTCCACGCCCCTTCTCCTCCTC ACTCCTCCTCCTCCTCCACACCCCTCCTCCTCACTCCTCCTCCTCCTCCA CACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCC TCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAAC TCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCC CTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0030 a0001c0001t0010g0030	1	229	0.0044	694	c.52 others(705): Show c.5273_*5274insATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCCACAATCCTCCTCTTACTCCACACCCCTCC TCCAACCCCTCCTCCACAGACCTCCCTCTCGTCCACACCCCTCCAATTCC ACAGCCCTCCTCCAACTCCACACACCCAATCCTCCTCCAGTCCTCCTCCT CCACACACCTTCTCCTCCACACACCTTCTCCTCCACACCTCACCTCCTCC TGCACACCCCTACCCCACCGCACCCCTCCCCCTCCTCCTCCACACTCACT CAACACCCCTCCTCCTCCTCATCCCTCCCCTTTCACACCCCTCCTCAACT TCCACACCCCTCCCCCTCCTCACCCCTCCCACTTCAACTCTCCTCCTCAC CCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCATCCTCCACG CCCCTTCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCTCCTCCTCACT CCTCCTCCTCCTCCACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCA CACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATA CCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCC TCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTC CACATCCCTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2069		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647413	A A	AATCCTCC others(687): Show AATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCTTACTCCACACCCCTCCTCCAACCCCTCCTCC ACAGACCTCCCTCTCGTCCACACCCCTCCAATTCCACAGCCCTCCTCCAC CTCCACACACCCAATCCTCCTCCAGTCCTCCTCCTCCACACACCTTCTCC TCCACACACCTTCTCCTCCACACCTCACCTCCTCCTGCACACCCCTACCC CACCGCACCCCTCCCCCTCCTCCTCCACACTCACTCAACACCCCTCCTCC TCCTCATCCCTCCCCTTTCACACCCCTCCTCAACTTCCACACCCCTCCCC CTCCTCACCCCTCCCACTTCAACTCTCCTCCTCACCCCTCCTCCTCTGCC ACACCCCTACTCCTCCTCACCCATCATCCTCCACGCCCCTTCTCCTCCTC ACTCCTCCTCCTCCTCCACACCCCTCCTCCTCACTCCTCCTCCTCCTCCA CACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCC TCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAAC TCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCC CTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	229	0.0044	694	c.52 others(705): Show c.5273_*5274insATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCCACAATCCTCCTCTTACTCCACACCCCTCC TCCAACCCCTCCTCCACAGACCTCCCTCTCGTCCACACCCCTCCAATTCC ACAGCCCTCCTCCACCTCCACACACCCAATCCTCCTCCAGTCCTCCTCCT CCACACACCTTCTCCTCCACACACCTTCTCCTCCACACCTCACCTCCTCC TGCACACCCCTACCCCACCGCACCCCTCCCCCTCCTCCTCCACACTCACT CAACACCCCTCCTCCTCCTCATCCCTCCCCTTTCACACCCCTCCTCAACT TCCACACCCCTCCCCCTCCTCACCCCTCCCACTTCAACTCTCCTCCTCAC CCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCATCCTCCACG CCCCTTCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCTCCTCCTCACT CCTCCTCCTCCTCCACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCA CACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATA CCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCC TCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTC CACATCCCTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2069		chr15	TogoVar
DCLK2_chr4_150073445_150262438	150251289	T T	TCCCCCAC others(687): Show TCCCCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCAC ACCCCCCACACCCCCCACACACCCCCCACACCACACATCCCTCACACCAC ACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCAC ACCCCCCACACCCCCCACACACCCCCCACACCACACATCCCTCACACCAC ACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCAC ACCCCCCACACCCCCCACACACCCCCCACACCACACATCCCTCACACCAC ACATCCCTCACACCCCCCACACCCCCCACACCCCCCCACACCACACATCC CCCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCCCCCAC ACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCACACCCC CCCACACCACACACCCCCCACACCACACATCCCTCACACCACACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	112	0.0089	694	c.207 others(713): Show c.2073+1605_2073+1606insCCCCCACACCCCCCACACCCCCCACA CCCCCCACATCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCC CCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACACACCCCCC ACACCACACATCCCTCACACCACACATCCCTCACACCCCCCACACCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCC CCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACACACCCCCC ACACCACACATCCCTCACACCACACATCCCCCACACCCCCCACACCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCC CCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACACACCCCCC ACACCACACATCCCTCACACCACACATCCCTCACACCCCCCACACCCCCC ACACCCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACAC CCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCCCCCAC ATCCCCCACACCCCCCACACCCCCCCACACCACACACCCCCCACACCACA CATCCCTCACACCACACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(687): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGGGGA GGAGGGGGAGGAGGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGG GGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0208 a0001c0208	a0001c0208t0001 a0001c0208t0001	a0001c0208t0001g0067 a0001c0208t0001g0067	1	224	0.0045	694	c.118 others(713): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTTCCTCCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTCTTC CTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCC TCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCTCCTCCTCCCTCC TCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCT CCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89619226	T T	TCCCCTCC others(687): Show TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	68	0.0147	694	c.-10 others(713): Show c.-107+5510_-107+5511insCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ERICH1_chr8_659200_736224	659649	G G	GCATCCTG others(687): Show GCATCCTGGGGAGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCA TCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCT GGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGG AGGGGGTGACCATCGAGATCTCCAGTGTGCACTGACCATCCTGGGGAGGG GGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGGT GACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACC ATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCG AGATCTCCGATGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGAT CTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCC GATGTGCACTGAGCATCCTGGGGAGGGGGGTGACCATCGAGATCTCCGGT GTGCACTGAATATCCTGGGGAGGGGGTGACGATCGAGATCTCCAGGGTGC ACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTG ACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCA TCCTGGGGAGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	313	0.0032	694	c.49 others(705): Show c.4953_*4954insGTCAGTGCACACCGGAGATCTCGATGGTCACCCC CCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTC CCCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCA GGATGGTCAGTGCACCCTGGAGATCTCGATCGTCACCCCCTCCCCAGGAT ATTCAGTGCACACCGGAGATCTCGATGGTCACCCCCCTCCCCAGGATGCT CAGTGCACATCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGT GCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCAC ATCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCG GAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGA TCTCGATGGTCACCCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCT CGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACTGGAGATCTCGAT GGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTC ACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCC CCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCCT CCCCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4550		chr8	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(687): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCC CCCCTCTCCCTCCCTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCC CCCTCTCCCTCCCTCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCC CCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCC CCCCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCC CTCTCTCTCCCTCCCCCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTC CCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCT CTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTC CCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCCCTCTCTCC CCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCC CACCTCCTTCTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTC CCTCTCCCCCCTCCCCCTCTCCCTCTCCCCCTCCCTCTTTCCCCCCTTTC CTTCCTCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	4	0.2500	694	c.126 others(711): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAG AGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAG GGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGAGAGAGGGCAGGGGGAGA GAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGG GGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAG GGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAG AGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGA GGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAG GGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGG GGAGGGAGAGGGGGGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGG AGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(687): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATAAATATATATATTTATATATAAATATATATATAAATATATATA TTTATATATAAATATATATATTTATATATATATTTATATATAAATATATA TATTTATATATAAATATATATATTTATATATATAAATATATATATTTATA TATATAAATATATATATATTTATATTTACAAATATATATATTTATATATA TATTTATATTTATATATATTTATATTTATATATATATATATAAATATATA TTTATGTATATTTATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	95	0.0105	694	c.-97 others(711): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATAAATATATATATTTATATATAAATATATATATAAAT ATATATATTTATATATAAATATATATATTTATATATATATTTATATATAA ATATATATATTTATATATAAATATATATATTTATATATATAAATATATAT ATTTATATATATAAATATATATATATTTATATTTACAAATATATATATTT ATATATATATTTATATTTATATATATTTATATTTATATATATATATATAA ATATATATTTATGTATATTTATATATAAATATAAATATATATTTATATAT AAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(687): Show TCACCACCACCACCATCATCATCACCACCACCACTATCACCACCATCACA CCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACCATC ACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCACCAT CACCACCACCACCATAATCACCACCACCACCACCATCATCATCATCACCA CCACCATCACCACCATCACACCACCACCACCACCACGATCACCATCACCA CCACCACCATAACCACCACCACCACCACCATAATCACCATCACCACCACC ACCACCACCATAACCACCACCACCACCATAATCACCATCACCACCACCAC CATCATCATCATCACCACCACCATCACCACCACCACCACCATCATCATCA CCACCACCACCACCATCACCACCACCACCATCATCACCATCATCACCACC ACTATCATCATCATCACCACCACCATCACCACCACCACCACCATCATCAT CACCACCATCACCACCACCATCATCATCACCACCACCACCATCACCACCA CCACCACCATGACCACCACCACCACCCTCATCACCACCACCACCACCATC ACCATTACCACTACCACCGCCACCATCATCACCACCAGCACCACCAACAC CATCATCACCACCACCACCATCACCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0005 a0007c0015t0005	a0007c0015t0005g0020 a0007c0015t0005g0020	1	3	0.3333	694	c.116 others(713): Show c.1164+1147_1164+1148insTCATCATCACCACCACCACTATCACC ACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACCATA ATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCACCAT AATCACCATCACCACCACCACCATAATCACCACCACCACCACCATCATCA TCATCACCACCACCATCACCACCATCACACCACCACCACCACCACGATCA CCATCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATC ACCACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCAC CACCACCACCATCATCATCATCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACC ACCACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCAC CACCAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCA TCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33323138	T T	TATATATG others(687): Show TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATATGGAATAT ACATATGGAATATATATATATGGAATATACGTATGGAATATATATATATG GAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATGTATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATATGGAATATATATG TATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATA TATATGTTTGGAATATATATATATGGAATATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATAT ATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTATG GAATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTA TATGGAATATATATATGGAATGTATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	300	0.0033	694	c.-19 others(705): Show c.-1918_-1917insATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATATGGAATATACATATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAA TATATATATGGAATATATATGTTTGGAATATATATATATGGAATATATAT GTATGGAATATATATATATGGAATATATGTATGGAATATATATATGGAAT ATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATA TGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATA TATGGAATATATGTATATGGAATATATATATGGAATGTATATGGAATATA TATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1831		chr21	TogoVar
ITGBL1_chr13_101447675_101721446	101641707	T T	TCCCCCTC others(687): Show TCCCCCTCCCCCAACCCCACCACAGGCCCCAGTGTGTGATGTTCCCCTTC CTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAACAT ACGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTT CCAGCTTCATCCATGTCCCTACAAAGGACTTGAACTCATCATTTTTTATG GCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTC TATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTAAATA GTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTA TAATCCTTTGGGTATATACCCAGCAAAGGGATTGCTGGGTCAAATGGTAT TTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTT GAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCA TATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTATTTTTTTTATTTTT TTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATATGCA GGTTAGTTATATATGTATACATGTGCCATACTGGTGTCTCCTGCACCCAT TAACTTGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp1 HG01361.hp2 others(18): Show HG01074.hp1 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03492.hp2 HG03540.hp1 HG06807.hp2 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0003c0010 a0004c0013 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 a0003c0010t0001 a0004c0013t0001 a0005c0014t0001	a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0057 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0057 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0193 a0001c0001t0002g0031 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0006g0087 a0001c0002t0001g0217 a0001c0005t0001g0053 a0001c0005t0002g0299 a0003c0010t0001g0082 a0003c0010t0001g0133 a0003c0010t0001g0135 a0003c0010t0001g0142 a0004c0013t0001g0047 a0004c0013t0001g0048 a0005c0014t0001g0046	21	295	0.0712	694	c.101 others(715): Show c.1015+43419_1015+43420insAACCCCACCACAGGCCCCAGTGTG TGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCT ATGAGTGAGAACATACGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCT GAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACTTGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTAAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATAATCCTTTGGGTATATACCCAGCAAAGGGATTGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCATATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA TTTTTTTTATTTTTTTTTATTATTATTATACTTTAAGTTTTAGGGTACAT GTGCACAATATGCAGGTTAGTTATATATGTATACATGTGCCATACTGGTG TCTCCTGCACCCATTAACTTGTCATTTAGCATTAGGTATATCTCCTAATG CTATCCCTCCCCCCTCCCCC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101641707	T T	TCCCCCTC others(687): Show TCCCCCTCCCCCAACCCCACCACAGGCCCCAGTGTGTGATGTTCCCCTTC CTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAACAT GCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTT CCAGCTTCATCCATGTCCCTACAAAGGACTTGAACTCATCATTTTTTATG GCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTC TATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTAAATA GTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTA TAATCCTTTGGGTATATACCCAGCAAAGGGATTGCTGGGTCAAATGGTAT TTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTT GAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCA TATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTATTTTTTTTATTTTT TTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATATGCA GGTTAGTTATATATGTATACATGTGCCATACTGGTGTCTCCTGCACCCAT TAACTTGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp2 HG02257.hp1 others(4): Show HG01192.hp2 HG02109.hp2 HG02257.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0004 a0001c0001 a0001c0019 a0002c0004	a0001c0001t0001 a0001c0019t0002 a0002c0004t0001 a0001c0001t0001 a0001c0019t0002 a0002c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0019t0002g0143 a0002c0004t0001g0283	7	281	0.0249	694	c.101 others(715): Show c.1015+43419_1015+43420insAACCCCACCACAGGCCCCAGTGTG TGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCT ATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCT GAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACTTGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTAAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATAATCCTTTGGGTATATACCCAGCAAAGGGATTGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCATATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA TTTTTTTTATTTTTTTTTATTATTATTATACTTTAAGTTTTAGGGTACAT GTGCACAATATGCAGGTTAGTTATATATGTATACATGTGCCATACTGGTG TCTCCTGCACCCATTAACTTGTCATTTAGCATTAGGTATATCTCCTAATG CTATCCCTCCCCCCTCCCCC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101641707	T T	TCCCCCTC others(687): Show TCCCCCTCCCCCAACCCCACCACAGGCCCCAGTGTGTGATGTTCCCCTTC CTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTGTGAGTGAGAACAT GCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTT CCAGCTTCATCCATGTCCCTACAAAGGACTTGAACTCATCATTTTTTATG GCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTC TATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTAAATA GTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTA TAATCCTTTGGGTATATACCCAGCAAAGGGATTGCTGGGTCAAATGGTAT TTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTT GAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCA TATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTATTTTTTTTATTTTT TTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATATGCA GGTTAGTTATATATGTATACATGTGCCATACTGGTGTCTCCTGCACCCAT TAACTTGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	275	0.0036	694	c.101 others(715): Show c.1015+43419_1015+43420insAACCCCACCACAGGCCCCAGTGTG TGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCT GTGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTGCT GAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACTTGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTAAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATAATCCTTTGGGTATATACCCAGCAAAGGGATTGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCATATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA TTTTTTTTATTTTTTTTTATTATTATTATACTTTAAGTTTTAGGGTACAT GTGCACAATATGCAGGTTAGTTATATATGTATACATGTGCCATACTGGTG TCTCCTGCACCCATTAACTTGTCATTTAGCATTAGGTATATCTCCTAATG CTATCCCTCCCCCCTCCCCC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(687): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCC GCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCC ACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	5	0.2000	694	c.-41 others(709): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCC CCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCC CACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCC CCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(687): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGAAGGGGA AGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAG GAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGA AGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAG GGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGG AAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAG GGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGA GGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGG AGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGG GAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGC AGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0023 a0023	a0023c0071 a0023c0071	a0023c0071t0005 a0023c0071t0005	a0023c0071t0005g0050 a0023c0071t0005g0050	1	8	0.1250	694	c.507 others(713): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGA GGGAAGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAA GAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGA ACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGG AGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAG GAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAA GAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAA AGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGG GAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAA GAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(687): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGG AGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGC AGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0003 a0014c0010t0003	a0014c0010t0003g0054 a0014c0010t0003g0082 a0014c0010t0003g0054 a0014c0010t0003g0082	2	9	0.2222	694	c.507 others(713): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAA GAAAGGAGGGAGGGAGGGAGGGAGGAAGGAACAAAGGAAGGAAGAAAGGA AGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAA GAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(687): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0253 a0001c0004t0023g0253	1	6	0.1667	694	c.368 others(711): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTAT GTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(687): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02976.hp2 HG02145.hp2 HG02486.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0170 a0001c0001t0007g0177 a0001c0001t0007g0008 a0001c0001t0007g0170 a0001c0001t0007g0177	3	8	0.3750	694	c.368 others(711): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTAT GTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar

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