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
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCCA others(672): Show GTCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC ACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCA CACTATCCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0328 a0002c0002t0002g0328	1	225	0.0044	679	c.489 others(694): Show c.489-777_489-776insTCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACA CTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCCA others(672): Show GTCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGA CCCAGCCCCCACACTGACCCAGCCCCCCACACTACCCCGGCCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCC ACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCA CACTATCCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19004.hp2 NA18612.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0172 a0002c0002t0001g0141 a0001c0001t0001g0172 a0002c0002t0001g0141	2	226	0.0088	679	c.489 others(694): Show c.489-777_489-776insTCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCAGCCCCCCACA CTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCC CCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCCA others(672): Show GTCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTGACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCC ACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCA CACTATCCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	225	0.0044	679	c.489 others(694): Show c.489-777_489-776insTCCCCCACACTGACCCAGTCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACA CTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCC CCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(672): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGGGAGGGGAGGGAGGGAGGGAGGGTGTGAAGGGAGG AGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGG AGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGAGGAGGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGA GGGTGCTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAG GGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGG GAGAGAGGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0058 a0001c0001t0010g0058	1	15	0.0667	679	c.-38 others(690): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGGGAGGGGAGGGAGGGAGGGA GGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGG GAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAA GGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGG GGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGAGGGGAGGAGGGA GGAGGGAGGAGAGGAGGGTGCTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGG GAGGAGGGTGTGAAGGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGG AAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EGFR_chr7_55014017_55216628	55167504	G G	GTGGTGGT others(672): Show GTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTCGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTG GTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTG TTACTGGTGGTGACGAGGTGGGAGTCACAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04204.hp2 HG01099.hp1 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0097 a0001c0005t0006g0101 a0001c0005t0006g0097 a0001c0005t0006g0101	2	233	0.0086	679	c.188 others(698): Show c.1880+2154_1880+2155insATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTCGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAG GAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGAC GAGGTGGGAGTCACAATGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167504	G G	GTGGTGGT others(672): Show GTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG TTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTG GTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTG GTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTG TTACTGGTGGTGACGAGGTGGGAGTCACAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01346.hp1 others(9): Show HG00738.hp1 HG01074.hp2 HG01346.hp1 HG01361.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02055.hp2 HG02148.hp1 HG02630.hp1 HG03831.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0001c0007 a0001c0012 others(3): Show a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0015 a0003c0045	a0001c0005t0006 a0001c0005t0013 a0001c0007t0006 others(7): Show a0001c0005t0006 a0001c0005t0013 a0001c0007t0006 a0001c0007t0010 a0001c0007t0013 a0001c0012t0004 a0001c0012t0067 a0001c0013t0051 a0001c0015t0001 a0003c0045t0013	a0001c0005t0006g0049 a0001c0005t0006g0079 a0001c0005t0013g0226 others(9): Show a0001c0005t0006g0049 a0001c0005t0006g0079 a0001c0005t0013g0226 a0001c0007t0006g0042 a0001c0007t0010g0227 a0001c0007t0013g0233 a0001c0007t0013g0234 a0001c0012t0004g0161 a0001c0012t0067g0180 a0001c0013t0051g0203 a0001c0015t0001g0078 a0003c0045t0013g0238	12	243	0.0494	679	c.188 others(698): Show c.1880+2154_1880+2155insATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAG GAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGAC GAGGTGGGAGTCACAATGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(672): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGGGAGGGGAGGGAGGGAGGGAGGGTGTGAAGGGAGG AGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGG AGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAG GAGGGTGTGAAGGGAGGAGGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGA GGGTGCTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAG GGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGG GAGAGAGGAAGGAAGGGAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	11	0.0909	679	c.35 others(690): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGGGAGGGGAGGGAGGGAGGGA GGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGG GAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAA GGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGG GGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGAGGGGAGGAGGGA GGAGGGAGGAGAGGAGGGTGCTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGG GAGGAGGGTGTGAAGGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGG AAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(672): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGGAAAGGGAGGAAGGAGAGA GGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATG GGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGA GGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAG GAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGG AGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGGAGGGA GGAGGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGG AGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAG GGGAAAGAGGGAGGGGAGGATTGGGAAAGGGGAGGAAGGTGTAAAGAGGG AGAGAGGAAGGAAGGGAGGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	11	0.0909	679	c.35 others(690): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGGAAA GGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAG GAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTG TGAAGGGAAGAGGGAGGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGG AGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAA GGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGG GGAGGAGGGGAGGGAGGAGGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGG AGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGG GAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGGAAAGGGGAGG AAGGTGTAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(672): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCCACGGGACACATACCC CCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGGACACATACCCC CTCCCTCCAGGGGACACATCCCCCCCTCCCTCCTCGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTC CCTCCAGGGAACACATCCCCCCTCCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCA GGGGACACATCCCCCCCTCCCCCCCACGGGACACATCCCCCCTCCCCCCA GGGGACACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCAC ATCCCCCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	58	0.0172	679	c.35 others(690): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGGAGGGGGGGATGTGTCCCCTGGA GGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGG GAGGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGG AGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGAGGAGGGGAGGGGGGATGTGTTCCCTGGAGGGAGG GGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGG GGATGTGTCCCGAGGAGGGAGGGGGGGATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGT ATGTGTCCCGTGGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(672): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCT TCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCC CGCCCCGCCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	8	0.1250	679	c.31 others(690): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGGCAGCCAC ACGGGCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGGCAGCCACA CGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGGTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(672): Show AGAATATAGAATATATATTCTATATAGAATATATATTCTATATAGAATAT AGAATATATATTCTATATAGAATATATATTCTATATAGATTCTATATAGA ATATATATTCTATATAGATTCTATATAGAATATATATTCTATATAGAATA TAGAATATATATTCTATATAGAATATAGAATATATATTCTATATAGAATA TATATTCTATATAGATTCTATATAGAATATATATTCTATATAGATTCTAT ATAGAATATATATTCTATATAGATTCTATATAGAATATATATTCTATATA GATTCTATATAGAATATATATTCTATATAGAATCTATATAGAATATATAT TCTATATAGAATATAGAATATATATTCTATATAGAATATATATTCTATAT GGAATATATATTCTATATAGAATATAGAATATATATTCTATATGGAATAT ATATTCTATATAGAATATAGAATATATATTCTATATGGAATATATATTCT ATATAGAATATAGAATATATATTCTATATGGAATATATATTCTATATAGA ATATAGAATATATATTCTATATGGAATATAGAATATATATTCCATATAGA ATATAGAATATATATTCTATATTCCATATAGAATATAGAATATATATTCT ATATAGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0079 a0001c0001t0013g0079	1	3	0.3333	679	c.123 others(700): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGGAATATAGAATATATATT CTATATTCTATATGGAATATATATTCTATATTCCATATAGAATATATATT CTATATTCTATATAGAATATATATTCCATATAGAATATATATTCTATATT CTATATAGAATATATATTCCATATAGAATATATATTCTATATTCTATATA GAATATATATTCCATATAGAATATATATTCTATATTCTATATAGAATATA TATTCCATATAGAATATATATTCTATATAGAATATATATTCTATATTCTA TATAGAATATATATTCTATATAGATTCTATATAGAATATATATTCTATAT AGAATCTATATAGAATATATATTCTATATAGAATCTATATAGAATATATA TTCTATATAGAATCTATATAGAATATATATTCTATATAGAATCTATATAG AATATATATTCTATATAGAATATATATTCTATATTCTATATAGAATATAT ATTCTATATTCTATATAGAATATATATTCTATATAGAATCTATATAGAAT ATATATTCTATATAGAATCTATATAGAATATATATTCTATATAGAATATA TATTCTATATTCTATATAGAATATATATTCTATATAGAATATATATTCTA TATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307514	T T	TATATATA others(672): Show TATATATATTTTATATTATATATATTATATATAATATATATATTTTATAT TATATATATTATATATAATATATATATTTTATATTATATATATTATATAT AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTATATTATATATAATATATAT ATTTTATATTATATATATTATATATAATATATATATTTTATATTATATAT ATTATATATAATATATATATTTTATATTATATATATTATATATAATATAT ATATTTTATATTATATATATTATATATAATATATATATTTTATATTATAT ATATTATATATAATATATATTTTATATTATATATATTATATATAATATAT ATTTTATATTATATATATTATATATAATATATATTTTATATTATATATTA TATATAATATATATTTTATATTATATATATTATATATAATATATATTTTA TATTATATATATTATATATAATATATATTTTATATTATATATATTATATA TAATATATATTTTATATTATATATATTATATATAATATATATTTTATATT ATATATATTATATATAATATATATTTTATATTATATATATTATATATAAT ATATATTTTATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	134	0.0075	679	c.697 others(698): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTATATTATATATAATATATATATTTTATATTATATATA TTATATATAATATATATATTTTATATTATATATATTATATATAATATATA TATTTTATATTATATATATTATATATAATATATATATTTTATATTATATA TATTATATATAATATATATATTTTATATTATATATATTATATATAATATA TATTTTATATTATATATATTATATATAATATATATTTTATATTATATATA TTATATATAATATATATTTTATATTATATATTATATATAATATATATTTT ATATTATATATATTATATATAATATATATTTTATATTATATATATTATAT ATAATATATATTTTATATTATATATATTATATATAATATATATTTTATAT TATATATATTATATATAATATATATTTTATATTATATATATTATATATAA TATATATTTTATATTATATATATTATATATAATATATATTTTATATTATA TATATTATATATAATATATATTTTATATTATATATATTATATATAATATA TAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(672): Show TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCC CCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCC TGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCC TCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTC CTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGC CCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0144 a0001c0001t0032g0144	1	124	0.0081	679	c.65 others(690): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAG GGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAG GGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGGA GGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGC AGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAG GAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAG GAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LHPP_chr10_124456823_124619141	124471482	T T	TTATATAT others(672): Show TTATATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATA TATATTACATATATTTTTATATTTTATATATATTTATATATTTTATATAT TTATATATTTTTTATATATTTATATATTTATATATATATTTATATATATT TATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATTTATATATTTATGTATATATTTATATATATTTATA TATTTATGTATAAATTTATATATATTTATATGTATTTATATATATATTTA TATGTATTTATATATATTTATATATTTATATGTATTTATACATATATATT TATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATGTATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATATTATTTATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0035 a0001c0001t0018g0035	1	164	0.0061	679	c.125 others(696): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATGTATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATATTTATATATATATTTATATATATATTATTTATATATATA T	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867200	G G	GGGGGGTG others(672): Show GGGGGGTGGGGTGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGG TGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGGAT GGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGG TGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGG GTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGG GTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTG TGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGTGGGGTGTGTG TGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTG TGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTG TGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGT GTGTGTTGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGT GTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGT GTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTG TGGTAGTGTGTGTGTGGGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	406	0.0025	679	c.130 others(696): Show c.1309-132_1309-131insTGGTAGTGTGTGTGGGGTGTGTGGGTGT GTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGG GTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGT GTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTG TGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTG TGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGT GTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGTGGGGTGTGTGTGT GTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGT GTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGT TGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTG TGTTGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTG TGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTG TGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGG TAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTGTGT G	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(672): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATACATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTA AATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATA TATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGT ATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTG TAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATA TAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATA TAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATA TATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATA TAAATATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTA AATCTATATAAATATATACATATTTTGTAAATCTATATAAATATATACAT ATTTTGTAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0005 a0011c0014t0002g0005	2	41	0.0488	679	c.197 others(698): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATAGATTTACAAAATATGTATATA TTTATATATTTACAAAATATGTATATATTTATATATATTTACAAAATATA TATATATTTACAAAATATATATATTTATATATTTACAAAATATATATATT TTTATATATTTACAACATATATTTTTATATATTTACAAAATGTATATATT TTTATATATTTACAAAATGTATATATTTATATATTTACAAAATGTATATA TTTACAAAATATATATACATATTTACAAAATATATATATTTACAAAATAT ATATACATATTTACAAAATATATATATTTACTATATATATTTACAAAATA TATATATAATTTACAATATATATATAATTCACAAAATATATATTTATATA TATTTACAATATATATTTACAAAATATATATATATTTACAAAATATATAT TTATATATTTACAAAACATATATATATTTATATATATTTACAAAACATAT ATATTTATGTATATTTACAAAACATATATATTTATATATATTTACAAAAC ATATATTTATATATATTTACAAAACATATATATATTTATATATATTTACA AAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAN2B2_chr4_6570189_6628362	6579132	C C	CCACCATC others(672): Show CCACCATCACCAATCACATACACCTACCATCACCTCACCACCTCTCACCA CCATCACCATCGACCACTCCGACCTACCACCTTCATCCACCACCATCACC ACCACCACCATTCCACCACCATCACCTCCATCACTACCACCACATCACCA CACACACACCACCATCACCACCACCACACCCCACTCCTTCACCACCATCA CACCACCACCATCACCACCACCCCACCACCACCACCACCCACCACCACCA TCACCACACAACCACCACCACCATCACCAACACCACACCCTACATCACCA CCATCACCTCACCACCATCACCACCACCACACCACCACCACCCACAACAT CACCACACCACCACCACCACACCACCACCCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCATCACCACCAACACCACCACCA CCACCACCACCATCACAACCATCCACCACCAACCACCATCCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACACCACACCACCACCA CCACCACCCACCACCCATCAACCACCATCACCACCACCACCAACACCAAC CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	331	0.0030	679	c.391 others(694): Show c.391+639_391+640insTCACCAATCACATACACCTACCATCACCTC ACCACCTCTCACCACCATCACCATCGACCACTCCGACCTACCACCTTCAT CCACCACCATCACCACCACCACCATTCCACCACCATCACCTCCATCACTA CCACCACATCACCACACACACACCACCATCACCACCACCACACCCCACTC CTTCACCACCATCACACCACCACCATCACCACCACCCCACCACCACCACC ACCCACCACCACCATCACCACACAACCACCACCACCATCACCAACACCAC ACCCTACATCACCACCATCACCTCACCACCATCACCACCACCACACCACC ACCACCCACAACATCACCACACCACCACCACCACACCACCACCCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCAC CAACACCACCACCACCACCACCACCATCACAACCATCCACCACCAACCAC CATCCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACA CCACACCACCACCACCACCACCCACCACCCATCAACCACCATCACCACCA CCACCAACACCAACCCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCACCCTTCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579259	C C	CCACCACC others(672): Show CCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCA CCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 NA18949.hp2 others(1): Show HG00609.hp1 HG02015.hp1 NA18949.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0006 a0002c0002t0001g0287 a0002c0002t0003g0006 a0002c0002t0001g0006 a0002c0002t0001g0287 a0002c0002t0003g0006	4	311	0.0129	679	c.391 others(694): Show c.391+772_391+773insCCATCACCACCACCACCCTTCACCACCATC ACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCAC CACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478087	A A	AGAGGGGG others(672): Show AGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGG GAGGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGGGGGGGGAGGGGGGAGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGAG GGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGG GAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGG GGAGGGGGAGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGG GGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG AGGGGGGAGGGGGGGGAGGGGGGAGGGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0137 a0002c0002t0002g0137	1	140	0.0071	679	c.525 others(696): Show c.525+8394_525+8395insCCCCCCTCCCCCCTCCCCCCCCTCCCCC CTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCT CCCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCC TCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCCTC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCT C	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(672): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGG GAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAG GGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGAGGGGGAGG GGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAG GGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	8	0.1250	679	c.250 others(694): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTC ACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCG CCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCC GCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(672): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGA GGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAG GGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGG GGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAG GGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	8	0.1250	679	c.250 others(694): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCC CCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCC CCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(672): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATAAAAATATATAAAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAA AATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAA GAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAA CCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGAGG ACCTAAATATATATATATAAATATATAAATATATAAATATAAATATATAA ATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTT TTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATAT ATTTATATATTTATATAAATATAAATATATAAATATATATAATTATATAT ATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	8	0.1250	679	c.293 others(698): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATAAAAATA TATAAAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATATAAATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTT GGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(672): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATAAAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA AAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAA AATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAA GAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAA CCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGAGG ACCTAAATATATATATATAAATATATAAATATATAAATATAAATATATAA ATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTT TTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATAT ATTTATATATTTATATAAATATAAATATATAAATATATATAATTATATAT ATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02155.hp1 HG02165.hp2 others(3): Show HG00673.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp2 NA19001.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0227 a0001c0001t0001g0228 others(3): Show a0001c0001t0001g0150 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0247	6	13	0.4615	679	c.293 others(698): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATAAAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATAAAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATATAAATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTT GGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(672): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATAAAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAA AATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAA GAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAA CCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGAGG ACCTAAATATATATATATAAATATATAAATATATAAATATAAATATATAA ATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTT TTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATAT ATTTATATATTTATATAAATATAAATATATAAATATATATAATTATATAT ATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG01433.hp1 others(14): Show HG00735.hp2 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG03688.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp2 NA18957.hp1 NA18969.hp2 NA18978.hp2 NA18981.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0026 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0186 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0186 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0007g0218 a0001c0001t0026g0123 a0001c0005t0001g0252	17	24	0.7083	679	c.293 others(698): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATAAAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATATAAATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTT GGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(672): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAA AATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAA GAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAA CCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGAGG ACCTAAATATATATATATAAATATATAAATATATAAATATAAATATATAA ATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTT TTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATAT ATTTATATATTTATATAAATATAAATATATAAATATATATAATTATATAT ATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18939.hp2 NA18951.hp1 others(1): Show HG02027.hp1 NA18939.hp2 NA18951.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0248 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0216 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251	4	11	0.3636	679	c.293 others(698): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATATAAATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTT GGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(672): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTT TTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATAT ATTTATATATTTATATAAATATAAATATATAAATATATATAATTATATAT ATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	8	0.1250	679	c.293 others(698): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATATATAT ATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATA TATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAT TTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGT CCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTT GGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(672): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0018 a0002c0006t0018	a0002c0006t0018g0002 a0002c0006t0018g0002	1	196	0.0051	679	c.-28 others(690): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(672): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0144 a0002c0006t0001g0144	1	118	0.0085	679	c.-75 others(698): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACT GTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATG CAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACATACAGTATACATACATA CAGTATACATACATACAGTATACATGCTGTATACAGTATACATGCTGTAT ACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(672): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGAC AGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGA TGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGG GGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGAT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGG GACAGTGCGGGGGGGATGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(65): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA18954.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18985.hp2 NA19002.hp1 NA19002.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA20805.hp1 NA20905.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0017 a0019 a0021	a0001c0002 a0001c0006 a0001c0009 others(18): Show a0001c0002 a0001c0006 a0001c0009 a0001c0012 a0001c0017 a0001c0020 a0001c0026 a0001c0029 a0001c0052 a0001c0054 a0001c0055 a0001c0060 a0001c0063 a0001c0064 a0001c0069 a0004c0065 a0004c0067 a0005c0066 a0017c0047 a0019c0068 a0021c0061	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(28): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0009t0001 a0001c0009t0002 a0001c0012t0001 a0001c0012t0002 a0001c0017t0002 a0001c0017t0003 a0001c0017t0004 a0001c0020t0002 a0001c0026t0015 a0001c0029t0006 a0001c0052t0022 a0001c0054t0017 a0001c0055t0017 a0001c0060t0011 a0001c0063t0010 a0001c0064t0006 a0001c0069t0004 a0004c0065t0005 a0004c0067t0009 a0005c0066t0002 a0017c0047t0004 a0019c0068t0006 a0021c0061t0002	a0001c0002t0002g0090 a0001c0002t0004g0107 a0001c0002t0005g0053 others(63): Show a0001c0002t0002g0090 a0001c0002t0004g0107 a0001c0002t0005g0053 a0001c0002t0005g0070 a0001c0002t0005g0099 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0106 a0001c0002t0005g0113 a0001c0002t0005g0115 a0001c0002t0005g0116 a0001c0002t0005g0130 a0001c0002t0005g0143 a0001c0002t0006g0003 a0001c0002t0006g0004 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0117 a0001c0002t0006g0118 a0001c0002t0010g0245 a0001c0002t0010g0299 a0001c0006t0001g0209 a0001c0006t0002g0072 a0001c0006t0002g0121 a0001c0006t0004g0059 a0001c0006t0004g0064 a0001c0006t0004g0075 a0001c0006t0004g0102 a0001c0006t0004g0112 a0001c0006t0004g0141 a0001c0009t0001g0287 a0001c0009t0002g0045 a0001c0009t0002g0052 a0001c0009t0002g0067 a0001c0009t0002g0103 a0001c0009t0002g0128 a0001c0009t0002g0147 a0001c0012t0001g0283 a0001c0012t0002g0060 a0001c0012t0002g0082 a0001c0012t0002g0084 a0001c0012t0002g0129 a0001c0012t0002g0140 a0001c0017t0002g0002 a0001c0017t0003g0184 a0001c0017t0004g0046 a0001c0020t0002g0058 a0001c0020t0002g0062 a0001c0020t0002g0108 a0001c0026t0015g0015 a0001c0026t0015g0023 a0001c0029t0006g0066 a0001c0029t0006g0068 a0001c0052t0022g0030 a0001c0054t0017g0031 a0001c0055t0017g0035 a0001c0060t0011g0063 a0001c0063t0010g0282 a0001c0064t0006g0122 a0001c0069t0004g0086 a0004c0065t0005g0120 a0004c0067t0009g0182 a0005c0066t0002g0109 a0017c0047t0004g0094 a0019c0068t0006g0148 a0021c0061t0002g0051	68	309	0.2201	679	c.141 others(696): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCCGCACTG TCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCA CTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCA CTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCC CCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC C	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PCNT_chr21_46319156_46450769	46404099	C C	CGGCGCGT others(672): Show CGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGT GAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGC GTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCC ACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0120 a0004c0004t0003g0120	1	223	0.0045	679	c.511 others(698): Show c.5115+1639_5115+1640insCAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGT GAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGC GTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCC ACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGCGTGCTCGGTGAATGA ACA	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46404099	C C	CGGCGCGT others(672): Show CGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGT GAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGC GTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCC ACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG01109.hp1 HG02615.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0003 a0004c0023t0003	a0004c0023t0003g0092 a0004c0023t0003g0093 a0004c0023t0003g0092 a0004c0023t0003g0093	2	224	0.0089	679	c.511 others(698): Show c.5115+1639_5115+1640insCAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGT GAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGC GTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCC ACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGTGGCGCGTGCTCGGTGAATGA ACA	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(672): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC AGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCT CCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTG CATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCC TCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCT CCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTC CCCCCACCCTCCATCTGCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	248	0.0040	679	c.35 others(690): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTT CCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTAC CTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCA CCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PLA2G6_chr22_38106495_38186830	38110125	G G	GAGGGAGA others(672): Show GAGGGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGA GAGGGAGAGAGGGAGAGAGGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAG AGAGGGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGAGAGAT GAGAGAGAGCGAGGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGGAGAGAGGGAGAGAGAGAGAGAGGGAGAG AGAAAGAGGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAG AGAAAGAGGAGGAGAGAGAGAGAGAGGGAGAGAGAGAGGGAGAGAAAGAG GGAGAGAGAGAGAGAGAGGGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG AGGGAGAGAGAAAGAGGAGGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAG AGGGAGAGAGAGAGGAGAGAGAGAGAAAGAGGAGGAGAGAGAGAGAGAGG GGAGAGGAGAGAGGAGAGAGAGGAGCGAGGAGAGAGAGAGAGAGAGGGAG AGAGAGAGAGAGAGAAAGAGGGAGAGAGAGAGAGAGAGGGAGAGAGAGAG AGAGAGAGAGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGTAGAGAGACAG AGAGAGAGAGAGACAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	8	0.1250	679	c.20 others(690): Show c.2035_*2036insGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGT CTCTCTACTCTCTCTCTCTCTCTCTCTCTCTCCCTCCTCTCTCTCTCTCT CTCTCTCCCTCTCTCTCTCTCTCTCCCTCTTTCTCTCTCTCTCTCTCTCC CTCTCTCTCTCTCTCTCCTCGCTCCTCTCTCTCCTCTCTCCTCTCCCCTC TCTCTCTCTCTCCTCCTCTTTCTCTCTCTCTCCTCTCTCTCTCCCTCTCT CTCTCTCTCTCCCTCTCTCTCTCTCTCCTCCTCTTTCTCTCTCCCTCTCT CTCTCTCTCTCTCTCCCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCCTCT TTCTCTCCCTCTCTCTCTCCCTCTCTCTCTCTCTCCTCCTCTTTCTCTCT CTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCCTCTTTCTCTCT CCCTCTCTCTCTCTCTCCCTCTCTCCTCTCTCTCTCTCTCTCTCTGTCTC TCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCCTCGCTCTCTCTCATCT CTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCT CTCTCTCTCCCTCTCTCTCTCTCTCTCCTCTCTCCCTCTCTCCCTCTCCC TCTCTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCCCT	PLA2G6	ENSG00000184381.20	transcript	ENST00000332509.8	protein_coding		1369		chr22	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(672): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCCA CCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCC ACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGG CGCCCCTCACCTCCTGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp2 HG01243.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0070 a0001c0003t0075 a0001c0002t0070 a0001c0003t0075	a0001c0002t0070g0045 a0001c0003t0075g0019 a0001c0002t0070g0045 a0001c0003t0075g0019	2	8	0.2500	679	c.822 others(696): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCC GGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCC TGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGTGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG A	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCTTCCCG others(672): Show TCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCC GAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCC CCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGG CCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCG GGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACC CGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCC TTCCCGGGAGACCCGAGGCCGCCCAGAGCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp1 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0290 a0001c0001t0001g0292	2	235	0.0085	679	c.126 others(698): Show c.1265+3382_1265+3383insTCCGTCCAGAGCCCCCCCGGGAGACC CGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGC CCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCC GGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCC AGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGAC CCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCC CTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGG CCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(672): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0019 a0001c0011t0002g0019	1	132	0.0076	679	c.126 others(698): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAG GGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RND2_chr17_43020231_43037041	43024257	A A	AATCTCGG others(672): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGT GGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGAGACGGAGTATTGCT CTATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01433.hp2 HG02602.hp1 others(5): Show HG00438.hp1 HG01433.hp2 HG02602.hp1 HG02738.hp2 HG03688.hp2 HG04115.hp2 NA19005.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0005g0005	8	162	0.0494	679	c.-10 others(690): Show c.-1091_-1090insATCTCGGCTCACTGCCACCTCCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACG CGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCC CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGC CAAAAAAAGCACTTTTAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGT CAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTT GCAGTGCGCTGAGATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGA GACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATG CAAATACGTATCAGTGGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTG AGACGGAGTATTGCTCTATCGCCCAGGCTGAAGTGCAGTGGCACG	RND2	ENSG00000108830.11	transcript	ENST00000587250.4	protein_coding		973		chr17	TogoVar
RND2_chr17_43020231_43037041	43024257	A A	AATCTCGG others(672): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGTG GTTTGATTATTGCTAGACTTTTTTTTTTTTTTTTGAGACGGAGTATTGCT CTATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG06807.hp2 NA19062.hp1 HG02683.hp2 HG06807.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0008g0002 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0008g0002	3	157	0.0191	679	c.-10 others(690): Show c.-1091_-1090insATCTCGGCTCACTGCCACCTCCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACG CGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCC CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGC CAAAAAAAGCACTTTTAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGT CAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTT GCAGTGCGCTGAGATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGA GACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGC AAATACGTATCAGTGGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTTG AGACGGAGTATTGCTCTATCGCCCAGGCTGAAGTGCAGTGGCACG	RND2	ENSG00000108830.11	transcript	ENST00000587250.4	protein_coding		973		chr17	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(672): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATTTATA TATTTAATTTATAAGTATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATA GATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp1 NA18948.hp1 HG01106.hp2 HG01256.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0267 a0001c0001t0003g0272 a0001c0001t0003g0278 a0001c0001t0001g0267 a0001c0001t0003g0272 a0001c0001t0003g0278	3	131	0.0229	679	c.-75 others(698): Show c.-758+6737_-758+6738insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATACTTATAAATTA AATATATAAATATGTACTTATAAACTAAATATATAAATATGTACTTATAA ACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATT TAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(672): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATTTATA TATTTAGTTTATAAGTATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATA GATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18978.hp2 NA19090.hp1 NA18960.hp2 NA18978.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0261 a0001c0001t0003g0266 a0001c0001t0003g0009 a0001c0001t0003g0261 a0001c0001t0003g0266	3	131	0.0229	679	c.-75 others(698): Show c.-758+6737_-758+6738insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATACTTATAAACTA AATATATAAATATGTACTTATAAACTAAATATATAAATATGTACTTATAA ACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATGTATTT ATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATT TAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(672): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	27	0.0370	679	c.-75 others(698): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCAF4_chr21_31666000_31737118	31673471	A A	ATACTTTA others(672): Show ATACTTTAGTACTAGTTTTCTTTCTTCCCCAACATCATGTTATTTTAGAT TTACAATTTGAATAAACTTCTTCCCACCTACTTTAGCAAATTAACAAGTC CTGTTTCTAGATTTTATGTATTAATAATTATATCATGCTAAATAAGAACT TCTACTTTAGTTTTTGCTACCCACAACGTGTTGTCCAATAGTACTTGTCA CACTTCAGCACTAAAGTGGACCTGAAAAGGTATGCAAACTAGTTTATAAT ACTCTTTTAACGTAAAGACTCACCAGGTTTGGTATTTACATAAAAATATC TTCTTCTAAATGCTTAAAGAGAAATATATTATGTTCGGTGAAATACAATC TTGGACATGTGCCTCAGTATTCTGGCTTATAAAATGGGCATAGTAATAAT ACCTGCCACTTGTTGAGATCAAATAGGATAAAATACATGAGAGTGAGTTC AGTGTTTGGCTCATGTAACTGCTGAAATTATTCTGCATATCTATTTAGAA AAGTAATAAATATCCTAATACTAAACATTTGATTTTGCAAAAAACAAACA CAACATTTTCCATTTCTGATAATTAAAATCTTAATCAACTCCTCCTGCTT CTTCGACACCTGCCATAGTTTAAAGTCAAGTACTTCGGTAACCGGAAAAA ATACACTGAGCTTTCATGTCAGGTCTAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01106.hp1 others(4): Show HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01261.hp2 HG02451.hp1 HG02486.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0011 a0001c0003 a0001c0005 a0001c0011	a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 others(1): Show a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0011t0001	a0001c0003t0002g0002 a0001c0003t0002g0019 a0001c0005t0001g0340 others(3): Show a0001c0003t0002g0002 a0001c0003t0002g0019 a0001c0005t0001g0340 a0001c0005t0002g0339 a0001c0005t0002g0341 a0001c0011t0001g0321	7	344	0.0203	679	c.248 others(698): Show c.2489-1118_2489-1117insCTTTAGACCTGACATGAAAGCTCAGT GTATTTTTTCCGGTTACCGAAGTACTTGACTTTAAACTATGGCAGGTGTC GAAGAAGCAGGAGGAGTTGATTAAGATTTTAATTATCAGAAATGGAAAAT GTTGTGTTTGTTTTTTGCAAAATCAAATGTTTAGTATTAGGATATTTATT ACTTTTCTAAATAGATATGCAGAATAATTTCAGCAGTTACATGAGCCAAA CACTGAACTCACTCTCATGTATTTTATCCTATTTGATCTCAACAAGTGGC AGGTATTATTACTATGCCCATTTTATAAGCCAGAATACTGAGGCACATGT CCAAGATTGTATTTCACCGAACATAATATATTTCTCTTTAAGCATTTAGA AGAAGATATTTTTATGTAAATACCAAACCTGGTGAGTCTTTACGTTAAAA GAGTATTATAAACTAGTTTGCATACCTTTTCAGGTCCACTTTAGTGCTGA AGTGTGACAAGTACTATTGGACAACACGTTGTGGGTAGCAAAAACTAAAG TAGAAGTTCTTATTTAGCATGATATAATTATTAATACATAAAATCTAGAA ACAGGACTTGTTAATTTGCTAAAGTAGGTGGGAAGAAGTTTATTCAAATT GTAAATCTAAAATAACATGATGTTGGGGAAGAAAGAAAACTAGTACTAAA GTA	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	19/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31673471	A A	ATACTTTA others(672): Show ATACTTTAGTACTAGTTTTCTTTCTTCCCCAACATCATGTTATTTTAGAT TTACAATTTGAATAAACTTCTTCCCACCTACTTTAGCAAATTAACAAGTC CTGTTTCTAGATTTTATGTATTAATAATTATATCATGCTAAATAAGAACT TCTACTTTAGTTTTTGCTACCCACAACGTGTTGTCCAATAGTACTTGTCA CACTTCAGCACTAAAGTGGACCTGAAAAGGTATGCAAACTAGTTTATAAT ACTCTTTTAACGTAAAGACTCACCAGGTTTGGTATTTACATAAAAATATC TTCTTCTAAATGCTTAAAGAGAAATATATTATGTTCGGTGAAATACAATC TTGGACATGTGCCTCAGTATTCTGGCTTATAAAATGGGCATAGTAATAAT ACCTGCCACTTGTTGAGATCAAATAGGATAAAATACATGAGAGTGAGTTC AGTGTTTGGCTCATGTAACTGCTGAAATTATTCTGCATATCTATTTAGAA AAGTAATAAATATCCTAATATTAAACATTTGATTTTGCAAAAAACAAACA CAACATTTTCCATTTCTGATAATTAAAATCTTAATCAACTCCTCCTGCTT CTTCGACACCTGCCATAGTTTAAAGTCAAGTACTTCGGTAACCGGAAAAA ATACACTGAGCTTTCATGTCAGGTCTAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 HG02976.hp1 others(3): Show HG02615.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0128 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131	6	343	0.0175	679	c.248 others(698): Show c.2489-1118_2489-1117insCTTTAGACCTGACATGAAAGCTCAGT GTATTTTTTCCGGTTACCGAAGTACTTGACTTTAAACTATGGCAGGTGTC GAAGAAGCAGGAGGAGTTGATTAAGATTTTAATTATCAGAAATGGAAAAT GTTGTGTTTGTTTTTTGCAAAATCAAATGTTTAATATTAGGATATTTATT ACTTTTCTAAATAGATATGCAGAATAATTTCAGCAGTTACATGAGCCAAA CACTGAACTCACTCTCATGTATTTTATCCTATTTGATCTCAACAAGTGGC AGGTATTATTACTATGCCCATTTTATAAGCCAGAATACTGAGGCACATGT CCAAGATTGTATTTCACCGAACATAATATATTTCTCTTTAAGCATTTAGA AGAAGATATTTTTATGTAAATACCAAACCTGGTGAGTCTTTACGTTAAAA GAGTATTATAAACTAGTTTGCATACCTTTTCAGGTCCACTTTAGTGCTGA AGTGTGACAAGTACTATTGGACAACACGTTGTGGGTAGCAAAAACTAAAG TAGAAGTTCTTATTTAGCATGATATAATTATTAATACATAAAATCTAGAA ACAGGACTTGTTAATTTGCTAAAGTAGGTGGGAAGAAGTTTATTCAAATT GTAAATCTAAAATAACATGATGTTGGGGAAGAAAGAAAACTAGTACTAAA GTA	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	19/19			chr21	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(672): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATATTCCATATATATATATATTCCATATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	230	0.0043	679	c.115 others(696): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATATGGAATATATATATATATGGAATATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA T	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(672): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCC CCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCATCCCCTCCCCTCC CCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC TCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0037 a0003c0003t0037	a0003c0003t0037g0137 a0003c0003t0037g0137	1	117	0.0085	679	c.77- others(696): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCT CCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCC C	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(672): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCC CCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCATCCCCTCCCCTCC CCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC TCCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0047 a0003c0003t0047	a0003c0003t0047g0127 a0003c0003t0047g0127	1	121	0.0083	679	c.22+ others(696): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCTACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCT CCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCC C	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(672): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGC CCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGG CGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAG CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	375	0.0027	679	c.-14 others(690): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGC GGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGC ACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACC CGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLIT3_chr5_168656740_169306139	168755402	T T	TTTCTTTC others(672): Show TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0017 a0002c0008t0002g0017	1	132	0.0076	679	c.168 others(698): Show c.1686-1396_1686-1395insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	16/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(672): Show AGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGT GGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAG GGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAA GGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGG GGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGTGGAGGGGAGG GGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGAGG GAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGA GGAGGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAAGGAGGGGGAGGGGAGGGGAAGGGGGA GGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGGAAGGGTAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGGGGG GAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAGGGGAGA GGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	679	c.12 others(690): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTACCCTTCCCCCCTTCCCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCC CCTTCCCCTCCCCTCCCCCTCCTTCCTCCCCCTTCCCCTTCCCCCCTTCC CCTCCCCTCCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCCTCCTCCC CTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTC CCCTCCACTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTT CCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCC CCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCA CCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCC TCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(672): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGAGGGGAGGCAGGGCAGGGAGGGGAGAGGGGGAGGA GGGAGGTGAGGGCAAGAGGAGGGGAGAGGGGGAGGAGGGAGGGAGAGAGG CAGAGGAGGGAAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAG GGGAGGGGGAAGGGGGACGGGGAGAGGGAGGAGGGGAGGGCAGAGGAGGG GAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGTGAGGGAGGGGGAG GGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGGGAGGGGGAGGGGGAGGAGGAGGAGGGGG AGGGGAGGGGAAGGGGGAAGGGGAAGGGGGGAGGAGGGGGGAGGAGGGAG GGGGAGGGGAGGGGAGGGGAAGGGGGGGAAGGGGAAGGGGAGGAGGGAGG GGGAGGGGAGGGGAAGGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAG GGAGGGGAGGAGGGGAGGGGGAGGGGGGAAGGAGGGAAGGGGAGAGGAGG AGGGAGGGGAGAGGGGAGGGGGGAGGGAGGGGAGAGGGGGGAGGGAGGGG GAAGGGGGAGGGGTGGCGGGGGTGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	679	c.12 others(690): Show c.1218_*1219insCTCTCTCACCCCCGCCACCCCTCCCCCTTCCCCC TCCCTCCCCCCTCTCCCCTCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTC CTCTCCCCTTCCCTCCTTCCCCCCTCCCCCTCCCCTCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCCTTCCCCTCCCCTCCCCCTC CCTCCTCCCCTTCCCCTTCCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCC CTCCTCCCCCCTCCTCCCCCCTTCCCCTTCCCCCTTCCCCTCCCCTCCCC CTCCTCCTCCTCCCCCTCCCCCTCCCCCCTCCCTCCTCCCCTCCCCTCTC CCCTCCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCTCACCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCT CCTCTGCCCTCCCCTCCTCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTTCCCTCCTCTGCCTC TCTCCCTCCCTCCTCCCCCTCTCCCCTCCTCTTGCCCTCACCTCCCTCCT CCCCCTCTCCCCTCCCTGCCCTGCCTCCCCTCCCACCCTCCCCCCTCCCT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar

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