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
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(310): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCA CCCCTACCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0013 a0001c0011t0001g0013	1	254	0.0039	317	c.39+ others(334): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCC CCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCAC CCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(310): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCAC CCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0061 a0001c0005t0061	a0001c0005t0061g0129 a0001c0005t0061g0129	1	254	0.0039	317	c.39+ others(334): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTC CCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCA CCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(310): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00558.hp1 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0018 a0001c0001t0010 a0001c0002t0018	a0001c0001t0010g0002 a0001c0002t0018g0005 a0001c0001t0010g0002 a0001c0002t0018g0005	2	254	0.0079	317	c.39+ others(334): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCT CCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(310): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCAC CCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03834.hp2 HG03239.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0244 a0001c0001t0001g0085 a0001c0001t0001g0244	2	254	0.0079	317	c.39+ others(334): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTC CCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCA CCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767263	A A	AGGGTGTG others(310): Show AGGGTGTGGGGGTGTTGGGGGCCACTGTGGAAAGGTGGGGAGATGTGGGG GTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGGG CCCCTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGG AAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAG GGTGTGGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAGATGTGGGGGT GTTGGGGGCCCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCC CTGTGGGAAGGTGGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0196 a0001c0022t0001g0196	1	254	0.0039	317	c.40- others(334): Show c.40-17871_40-17870insGGTGTGGGGGTGTTGGGGGCCACTGTGG AAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA GGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGG GTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGC CCCTGTGGGAAGGTGGGGAGGGTGTGGGGGTGTTGGGGGCCACTGTGGGA AGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGAAAGGTGGGGAGA TGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767365	C C	CCTGTGGG others(310): Show CCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGA TGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGT TGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGGGCCCC TGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGG TGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTG TGGGGGTGTTGGGGGCCA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0086 a0001c0005t0001g0086	1	254	0.0039	317	c.40- others(334): Show c.40-17752_40-17751insATGTGGGGGTGTTGGGGGCCCCTGTGGG AAGGTGGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGA GGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGG TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGGGC CCCTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGA AGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGG GTGTGGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2C2_chr16_84363538_84469187	84464320	T T	TAAAGAGT others(310): Show TAAAGAGTAGGGCTGGAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0022 a0022	a0022c0051 a0022c0051	a0022c0051t0010 a0022c0051t0010	a0022c0051t0010g0407 a0022c0051t0010g0407	1	432	0.0023	317	c.58 others(326): Show c.588_*589insAAAGAGTAGGGCTGGAGGCTGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding		134		chr16	TogoVar
ATP5MJ_chr14_103907288_103926529	103908284	T T	TAAAAAAT others(310): Show TAAAAAATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03139.hp2 HG03209.hp2 others(1): Show HG01891.hp1 HG03139.hp2 HG03209.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0106 a0002c0002t0001g0013 a0002c0002t0001g0106	4	440	0.0091	317	c.43 others(328): Show c.4381_*4382insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC ACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGTCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAGACTGAATTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		4003		chr14	TogoVar
ATP6V1E2_chr2_46506847_46547577	46536786	T T	TCTTTTTT others(310): Show TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0296 a0006c0006t0007g0296	1	410	0.0024	317	c.-30 others(332): Show c.-309-84_-309-83insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATRNL1_chr10_115088365_115953999	115944244	T T	TGAAATGT others(310): Show TGAAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	128	0.0078	317	c.401 others(334): Show c.4019-403_4019-402insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
AUH_chr9_91208823_91366918	91347963	T T	TAAAAAAC others(310): Show TAAAAAACTTTTGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	358	0.0028	317	c.418 others(334): Show c.418+7919_418+7920insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTGAACAAAAGTTTTTT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	3/9			chr9	TogoVar
B3GALNT2_chr1_235442190_235509452	235497414	T T	TGGATATT others(310): Show TGGATATTCTATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0202 a0001c0001t0052g0202	1	344	0.0029	317	c.113 others(334): Show c.113-2587_113-2586insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAGAAATAGAATATCC	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(310): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00140.hp2 HG00323.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0003 a0002c0002t0001 a0004c0004t0003	a0002c0002t0001g0215 a0004c0004t0003g0198 a0002c0002t0001g0215 a0004c0004t0003g0198	2	364	0.0055	317	c.723 others(334): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GCATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(310): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGAAGGGGAAGGGGACAGGG AGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGG GAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAGGGA AGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAGG AGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGGA GAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp1 HG03579.hp1 others(1): Show HG02818.hp1 HG03098.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0090 others(1): Show a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093	4	186	0.0215	317	c.565 others(336): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCC TTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(310): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGAAGGGGAAGGGGACAGGG AGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGG GAAGAGGGAGGGGAGGGGAGGGAAGAGGTAGGGGAGAGGGAGGGGAGGGA AGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAGG AGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGGA GAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0091 a0001c0001t0002g0092	2	186	0.0108	317	c.565 others(336): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTACCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCC TTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BICD1_chr12_32101847_32388633	32270106	G G	GCCAGACT others(310): Show GCCAGACTCCCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18969.hp1 NA18994.hp1 others(1): Show HG02040.hp2 NA18969.hp1 NA18994.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0026 a0001c0002t0002 a0001c0002t0005 a0001c0002t0026	a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0005g0111 others(1): Show a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0005g0111 a0001c0002t0026g0013	4	290	0.0138	317	c.427 others(336): Show c.427-23875_427-23874insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCAGACTCCCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32270106	G G	GCCAGACT others(310): Show GCCAGACTCCCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG02015.hp1 others(15): Show HG00323.hp2 HG01358.hp2 HG02015.hp1 HG02080.hp2 HG02602.hp2 HG02683.hp2 HG03688.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18968.hp1 NA18975.hp2 NA18983.hp1 NA18999.hp2 NA19011.hp2 NA19064.hp2 NA19083.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0021 a0001c0002t0025 a0001c0002t0027	a0001c0001t0003g0246 a0001c0001t0007g0146 a0001c0001t0011g0269 others(15): Show a0001c0001t0003g0246 a0001c0001t0007g0146 a0001c0001t0011g0269 a0001c0002t0001g0178 a0001c0002t0002g0063 a0001c0002t0002g0075 a0001c0002t0002g0195 a0001c0002t0002g0207 a0001c0002t0002g0253 a0001c0002t0002g0282 a0001c0002t0003g0238 a0001c0002t0005g0248 a0001c0002t0008g0145 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0027g0120	18	290	0.0621	317	c.427 others(336): Show c.427-23875_427-23874insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCAGACTCCCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMP6_chr6_7721099_7886728	7838182	T T	TAACTTTT others(310): Show TAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	308	0.0033	317	c.665 others(334): Show c.665-6951_665-6950insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACTGCGCCCGGCCAACTTTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRCA2_chr13_32310508_32405268	32348295	T T	TAAAAGTT others(310): Show TAAAAGTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0026 a0006c0009t0003g0026	1	398	0.0025	317	c.700 others(336): Show c.7007+1406_7007+1407insTTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTT	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(310): Show TGGATCATAATCTTCGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	416	0.0024	317	c.-42 others(328): Show c.-4254_-4253insGGATCATAATCTTCGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(310): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02135.hp2 HG03927.hp2 others(2): Show HG00558.hp2 HG02135.hp2 HG03927.hp2 NA18947.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0008 a0001c0002t0003 a0001c0002t0004 a0001c0002t0074	a0001c0001t0008g0228 a0001c0002t0003g0248 a0001c0002t0004g0039 others(2): Show a0001c0001t0008g0228 a0001c0002t0003g0248 a0001c0002t0004g0039 a0001c0002t0004g0234 a0001c0002t0074g0214	5	416	0.0120	317	c.-42 others(328): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
BTNL8_chr5_180894159_180955906	180922591	T T	TAAGAAGT others(310): Show TAAGAAGTGTTTTGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19070.hp2 HG02897.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0057 a0002c0002t0001g0030 a0002c0002t0001g0057	2	190	0.0105	317	c.673 others(336): Show c.673+10990_673+10991insGGCCGGGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAGTGTTTTG	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
C13orf46_chr13_113948705_113979076	113961472	A A	AGAAAATA others(310): Show AGAAAATAACTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTC AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	414	0.0024	317	c.572 others(334): Show c.572+3454_572+3455insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAACAGTTATTTTC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C13orf46_chr13_113948705_113979076	113961472	A A	AGAAATAA others(310): Show AGAAATAACTGTTTTTTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTC AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0224 a0001c0001t0049g0224	1	414	0.0024	317	c.572 others(334): Show c.572+3454_572+3455insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAACAAAAAAAAAAACAGTTATTTC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C13orf46_chr13_113948705_113979076	113961472	A A	AGAAATAA others(310): Show AGAAATAACTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTC AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(72): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00733.hp1 HG01069.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp1 HG03239.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18997.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19059.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19087.hp1 NA19090.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0006 a0006c0007 a0001c0001 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(14): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0042 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0005c0006t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0017g0027 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0042g0065 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0050g0193 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0060g0204 a0001c0001t0061g0218 a0005c0006t0001g0199 a0006c0007t0001g0205	75	414	0.1812	317	c.572 others(334): Show c.572+3454_572+3455insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTATTTC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C17orf99_chr17_78141385_78171297	78156965	G G	GGAGGTAG others(310): Show GGAGGTAGCCCTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(23): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG02965.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0013 a0002c0002t0001 a0001c0001t0005 a0001c0001t0013 a0002c0002t0001	a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0010 others(19): Show a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0010 a0001c0001t0005g0049 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0062 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0079 a0001c0001t0005g0082 a0001c0001t0005g0143 a0001c0001t0005g0150 a0001c0001t0005g0267 a0001c0001t0005g0278 a0001c0001t0005g0300 a0001c0001t0005g0400 a0001c0001t0005g0401 a0001c0001t0005g0402 a0001c0001t0013g0172 a0002c0002t0001g0064	26	446	0.0583	317	c.71- others(332): Show c.71-3973_71-3972insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGAGGTAGCCCTTTTTCT	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39601935	T T	TTCCCTCC others(310): Show TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTC CTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0140 a0002c0013t0001g0140	1	236	0.0042	317	c.482 others(334): Show c.482+1285_482+1286insCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNG3_chr16_24251335_24367412	24316244	G G	GCACAGCT others(310): Show GCACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	366	0.0027	317	c.212 others(336): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24316244	G G	GCACAGCT others(310): Show GCACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAAACTCATGGTTGAGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	366	0.0027	317	c.212 others(336): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAAACTCATGGTTGAGCCACAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24316244	G G	GCACAGCT others(310): Show GCACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00642.hp2 others(74): Show HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02735.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18979.hp2 NA18983.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0032 others(74): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0284 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0001g0347 a0001c0001t0001g0354 a0001c0001t0002g0045 a0001c0001t0002g0068 a0001c0001t0002g0132 a0001c0001t0002g0154 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0192 a0001c0001t0002g0308 a0001c0001t0002g0320 a0001c0001t0002g0352 a0001c0002t0001g0071 a0001c0002t0001g0190	77	366	0.2104	317	c.212 others(336): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24316246	A A	ACAGCTCT others(310): Show ACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	366	0.0027	317	c.212 others(336): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADPS2_chr7_122313411_122891460	122419767	T T	TAAAGAAA others(310): Show TAAAGAAAAAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	126	0.0079	317	c.247 others(336): Show c.2477-3604_2477-3603insTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTTTTCTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	17/29			chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(310): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAGAATAGAATAGAATATAGAATAGAATAGAA TAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	328	0.0031	317	c.100 others(336): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAGAATAGA ATAGAATATAGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(310): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG02970.hp2 others(2): Show HG00738.hp1 HG00741.hp1 HG02970.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0093 a0001c0001t0002g0043 a0001c0001t0002g0044 others(2): Show a0001c0001t0001g0093 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0092	5	198	0.0253	317	c.377 others(338): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(310): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp2 HG01106.hp1 others(24): Show HG00733.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01975.hp2 HG02015.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 NA18946.hp1 NA18952.hp1 NA18964.hp1 NA18983.hp2 NA19004.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0087 others(24): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0047 a0001c0001t0002g0109 a0001c0001t0003g0038 a0001c0001t0003g0121 a0001c0001t0003g0142 a0001c0001t0004g0034 a0001c0001t0007g0070	27	198	0.1364	317	c.377 others(338): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CANX_chr5_179693967_179736641	179695492	G G	GCTAATTT others(310): Show GCTAATTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGT AGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0260 a0001c0001t0027g0260	1	380	0.0026	317	c.-36 others(328): Show c.-3614_-3613insCTAATTTTGTATTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGC TAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding		3474		chr5	TogoVar
CAPN7_chr3_15201246_15257916	15252819	C C	CAAAAGAC others(310): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0035 a0001c0001t0019g0035	1	376	0.0027	317	c.15 others(328): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAATT AGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAGACAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN7_chr3_15201246_15257916	15252826	C C	CAGGTTAC others(310): Show CAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG02109.hp2 HG02258.hp1 others(11): Show HG01192.hp2 HG02109.hp2 HG02258.hp1 HG02559.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 NA18906.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0278 a0001c0001t0003g0283 a0001c0001t0003g0284 others(11): Show a0001c0001t0003g0278 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0297 a0003c0004t0003g0279 a0003c0004t0003g0281	14	376	0.0372	317	c.15 others(328): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGG GGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTT GAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGA GGGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0098 a0002c0001t0001g0098	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGG AGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0187 a0001c0002t0007g0187	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCTCCCTCCCCCC TCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTC TCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03669.hp2 NA18951.hp1 HG00597.hp2 HG03669.hp2 NA18951.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0031 a0001c0002 a0004c0031	a0001c0002t0002 a0004c0031t0002 a0001c0002t0002 a0004c0031t0002	a0001c0002t0002g0192 a0001c0002t0002g0200 a0004c0031t0002g0086 a0001c0002t0002g0192 a0001c0002t0002g0200 a0004c0031t0002g0086	3	276	0.0109	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCTCCCTCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCC TCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTC TCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03209.hp1 HG01256.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0002 a0001c0027t0002 a0001c0002t0002 a0001c0027t0002	a0001c0002t0002g0191 a0001c0027t0002g0022 a0001c0002t0002g0191 a0001c0027t0002g0022	2	276	0.0073	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCC TCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTC TCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGGCAGAGAAAGAGGAGGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18960.hp2 NA18971.hp2 others(4): Show NA18944.hp2 NA18960.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp1 NA18990.hp2 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0252 a0001c0002t0002g0254 others(3): Show a0001c0002t0002g0012 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259	7	276	0.0254	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCT CCTCTTTCTCTGCCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTC TCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGGTT GAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0245 a0003c0012t0001g0245	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0208 a0001c0003t0001g0208	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0089 a0004c0015t0001g0089	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02572.hp2 HG02056.hp2 HG02572.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0001 a0003c0004t0001 a0001c0007t0001 a0003c0004t0001	a0001c0007t0001g0241 a0003c0004t0001g0220 a0001c0007t0001g0241 a0003c0004t0001g0220	2	276	0.0073	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCTCCCTCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0010 a0003c0023t0010	a0003c0023t0010g0068 a0003c0023t0010g0068	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0054 a0006c0019t0001g0054	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCCTCCTCCCTCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0247 a0003c0004t0001g0247	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCCTCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar

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