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
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(806): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGG AGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	205	0.0049	813	c.369 others(830): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(806): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GGGGGCCAGCCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGG AGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	205	0.0049	813	c.369 others(830): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGGCTGGCCCCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(806): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGG AGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	205	0.0049	813	c.369 others(830): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(806): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGC CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGG AGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	205	0.0049	813	c.369 others(830): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(806): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGG AGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	205	0.0049	813	c.369 others(830): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGA GGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599478	C C	CAGCCCCC others(806): Show CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCGCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCCAG CCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAGGG AGGTGGGGGTGTCG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	327	0.0031	813	c.369 others(830): Show c.369+2891_369+2892insCGACACCCCCACCTCCCTCCCGGGCGGG GGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG ACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599478	C C	CAGCCCCC others(806): Show CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCGCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGG GCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCACCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAGGG AGGTGGGGGTGTCG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	327	0.0031	813	c.369 others(830): Show c.369+2891_369+2892insCGACACCCCCACCTCCCTCCCGGGCGGG GGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG ACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(806): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGG AGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	13	0.0769	813	c.978 others(830): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCA GGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGA GAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(806): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCC CTCTAATCACATTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAAT CACACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCA CCCCCCAATCACACTACCCACCCCCTCTAATCACACTCCCCACCCCCAAT CACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCC ACCCCCAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAAT CACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCC ACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCA ATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCACACTC CCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCC CTCTAATCACACTCCCCACCCCAATCACACTCCCCACCCCCAATCACACT CCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCC CCTAATCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACA CTCCCCACCCCCAATCACACTCCCCACCCCCAATCACACTCCCCACCCCC TCTAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAAT CACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCC ACCCCCCAATCACA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18954.hp1 NA18957.hp1 others(2): Show NA18952.hp1 NA18954.hp1 NA18957.hp1 NA19011.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0054 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0134	5	15	0.3333	813	c.104 others(832): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGG GGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTG TGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGG GGTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGG GGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAG TGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGAT TAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTGGGGGTGGG GAGTGTGATTAGAGGGGGTGGGTAGTGTGATTGGGGGGTGGGGAGTGTGA TTGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGAT GGGGTGTGTGATTAGAGGGATGGGGAATGTGATTAGAGGGGGTGGGGAGT GTGATGGGGATTGGAGAGTGTGATTGGCGTGTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(806): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCA GAGATGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18956.hp2 NA18945.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0227 a0001c0001t0001g0230	2	314	0.0064	813	c.-20 others(824): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
LHFPL3_chr7_104323603_104913561	104824258	T T	TATATTAT others(806): Show TATATTATATATATAATATATATATTATATATTATATATTATATATAATA TATATATTATATATTATATATTATATATATAATATATATATTATATATTA TATATTATATATATAATATATATATTATATATTATATATTATATATATAA TATATATATTATATATTATATAATATATATATTATATATTATATATATTA TATTATATATTATATATATAATATATTATATTATATATATTATATAATAT ATTATATATTATATATATATTATATAATATATTATATATAATTATATATA TTTTATATATTATATATTATATATTATATATTATATATTATATATTATAT TATATATAATTATATATATTTTATATATTATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATTATAT ATTATATATTATATATACAATTATATATATTATATATATTATATATTATA TATATTATATTATATAATATATTATATATATAATATATATTATATATTAT ATATTATATAATATATTATATATATAATATATAATATATATTATATATTA TATAATATATTATATATATAATATATATTATATATTATATATATAATATA TTATATATATAATATATATAATATATTATATATTATATAATATATTATAT ATATAATATATTATATAATATATATTATATATATATTATATATATAATAT ATATTATATAATATATATTATATAAATATTATATATATAATATATATTAT ATACAATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0007	1	86	0.0116	813	c.683 others(832): Show c.683-81925_683-81924insTATATATATAATATATATATTATATA TTATATATTATATATAATATATATATTATATATTATATATTATATATATA ATATATATATTATATATTATATATTATATATATAATATATATATTATATA TTATATATTATATATATAATATATATATTATATATTATATAATATATATA TTATATATTATATATATTATATTATATATTATATATATAATATATTATAT TATATATATTATATAATATATTATATATTATATATATATTATATAATATA TTATATATAATTATATATATTTTATATATTATATATTATATATTATATAT TATATATTATATATTATATTATATATAATTATATATATTTTATATATTAT ATATTATATATTATATATTATATATTATATATATTATATATTATATATTA TATATTATATATATTATATATTATATATTATATATACAATTATATATATT ATATATATTATATATTATATATATTATATTATATAATATATTATATATAT AATATATATTATATATTATATATTATATAATATATTATATATATAATATA TAATATATATTATATATTATATAATATATTATATATATAATATATATTAT ATATTATATATATAATATATTATATATATAATATATATAATATATTATAT ATTATATAATATATTATATATATAATATATTATATAATATATATTATATA TATATTATATATATAATATATATTATATAATATATATTATATAAATATTA TATATATAATATATATTATATACAATATATATAATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(806): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGG ACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTA CTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0098 a0002c0023t0002g0098	1	111	0.0090	813	c.65 others(824): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(806): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGG ACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTA CTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00544.hp2 others(75): Show HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01192.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02273.hp1 HG02559.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18969.hp2 NA18975.hp2 NA18979.hp1 NA18998.hp1 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0002c0012 a0002c0016 a0002c0018 a0002c0021 a0002c0025 a0003c0003 a0012c0019	a0001c0001t0001 a0001c0004t0003 a0001c0005t0006 others(9): Show a0001c0001t0001 a0001c0004t0003 a0001c0005t0006 a0002c0002t0002 a0002c0002t0021 a0002c0012t0002 a0002c0016t0002 a0002c0018t0002 a0002c0021t0002 a0002c0025t0002 a0003c0003t0001 a0012c0019t0002	a0001c0001t0001g0029 a0001c0001t0001g0178 a0001c0004t0003g0027 others(59): Show a0001c0001t0001g0029 a0001c0001t0001g0178 a0001c0004t0003g0027 a0001c0005t0006g0255 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0259 a0002c0002t0021g0083 a0002c0012t0002g0021 a0002c0012t0002g0113 a0002c0016t0002g0093 a0002c0016t0002g0095 a0002c0018t0002g0049 a0002c0021t0002g0118 a0002c0025t0002g0105 a0003c0003t0001g0216 a0012c0019t0002g0114	78	188	0.4149	813	c.65 others(824): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(806): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCGTCC CCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCC TTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCC CTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTC CTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCT CCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTC CCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCC CCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTC CATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTC CATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTCC CTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCA CTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTCC TCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCC TCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCT CTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00609.hp2 others(25): Show HG00099.hp1 HG00099.hp2 HG00609.hp2 HG00673.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG02015.hp1 HG02129.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02735.hp2 HG02738.hp1 NA18747.hp2 NA18947.hp2 NA18954.hp1 NA18979.hp1 NA18995.hp1 NA19009.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19084.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0041 a0001c0001t0044 a0001c0001t0048 a0001c0006t0009 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010	a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0183 others(25): Show a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0183 a0001c0001t0001g0220 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0194 a0001c0001t0003g0010 a0001c0001t0003g0021 a0001c0001t0003g0160 a0001c0001t0003g0229 a0001c0001t0003g0243 a0001c0001t0004g0120 a0001c0001t0004g0151 a0001c0001t0004g0217 a0001c0001t0006g0016 a0001c0001t0006g0198 a0001c0001t0041g0146 a0001c0001t0044g0125 a0001c0001t0048g0268 a0001c0006t0009g0057 a0002c0003t0005g0012 a0002c0003t0007g0077 a0002c0003t0007g0188 a0002c0003t0007g0249 a0002c0003t0007g0257 a0002c0003t0008g0017 a0002c0003t0010g0253	28	33	0.8485	813	c.100 others(832): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCC CCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACT TTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCC CCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCAT CCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCC CCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCT CCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCAT CCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCA TTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTC TTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCC CTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCC CCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTC CCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(806): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCGTCC CCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCC TTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCC CTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTC CTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCT CCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTC CCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCC CCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTC CATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTC CATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTCC CTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCA CTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTCC TCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCTCCCTCTCCC TCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCT CTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01928.hp2 HG01978.hp2 others(4): Show HG00423.hp1 HG01928.hp2 HG01978.hp2 NA18959.hp2 NA19001.hp1 NA19084.hp1 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0028 a0001c0001 a0002c0003 a0008c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0003t0005 a0008c0028t0003	a0001c0001t0001g0141 a0001c0001t0002g0020 a0001c0001t0003g0015 others(4): Show a0001c0001t0001g0141 a0001c0001t0002g0020 a0001c0001t0003g0015 a0001c0001t0004g0212 a0001c0001t0006g0126 a0002c0003t0005g0207 a0008c0028t0003g0094	7	12	0.5833	813	c.100 others(832): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCC CCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACT TTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCC CCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCAT CCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCC CCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCT CCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCAT CCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCA TTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTC TTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCC CTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCC CCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTC CCTCTCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(806): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAAAAGGGGCGGGGGGAAGG GGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGA AGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGG AGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGA GTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	8	0.1250	813	c.250 others(828): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCT TTTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTT TCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTT CCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTC CCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCC CCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCC CCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(806): Show AGAAGAGAGGGGAGGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAA GGAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGG GAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGA AGGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAG GAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGGAGGGGAGGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAG GGGAGGAGGGGAGGGGAGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGG GAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAG AGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAA GGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGG AAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAG AAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	4	0.2500	813	c.279 others(828): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCTCCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCT CCCCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCC CTCCCTTCCCTTCTCCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTTCCTTC others(806): Show CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCC CTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCC TTCCCTCCCTCCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTC CCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTC CCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCC TTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0176 a0001c0001t0014g0176	1	131	0.0076	813	c.773 others(828): Show c.773+645_773+646insTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTC CCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTTCCTTC CTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCT TCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTC CTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCT TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318220	C C	CCAGCCTC others(806): Show CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCT GCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCC CAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCACCCTCCACCTCCCCCCC GCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCT CCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCT CCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCT GCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	342	0.0029	813	c.37 others(824): Show c.3705_*3706insCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCAC CCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCC CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCACC CTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCT CCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTC CCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3247		chr5	TogoVar
RABL6_chr9_136802948_136846187	136803011	T T	TGGGGGCC others(806): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	51	0.0196	813	c.-51 others(824): Show c.-5186_-5185insGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCG GGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4936		chr9	TogoVar
RPA2_chr1_27886524_27919575	27916994	T T	TCCTCCTT others(806): Show TCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCTCCCT CCCTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCC TCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCTTCCTCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCC TCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCT TCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCC CTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCTCCTTCCCTCCCTCC TTCCTTCCTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0203	1	356	0.0028	813	c.-25 others(824): Show c.-2552_-2551insGAAGGAGGAAGGAAGGAGGGAGGGAAGGAGGAAG GAAGGAGGGAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGG AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAAGGAGGGAGGGAAGGAGGAAGGAAGGAGGGAG GGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAA GGAAGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAGGGAGGGAAGGA GGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGGAGGGA GGAAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGA AGGAGGAAGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGA AGGAGGGAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAA GGAAGGAAGGGAGGGAGGAAGGAAGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2420		chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(806): Show CATATATATATATATTCCATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATTCCATATATATATTCCATATA TATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	154	0.0065	813	c.115 others(830): Show c.115-2676_115-2675insATGGAATATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0224 a0001c0001t0008g0224	1	207	0.0048	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0277 a0001c0001t0014g0277	1	207	0.0048	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	207	0.0048	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	207	0.0048	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG02738.hp2 HG01978.hp1 HG01978.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0001g0271	3	209	0.0144	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG02976.hp1 HG01952.hp1 HG02055.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0262 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0262	3	209	0.0144	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03669.hp1 HG03225.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0217 a0001c0001t0001g0221	2	208	0.0096	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	207	0.0048	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	207	0.0048	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	207	0.0048	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(806): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19060.hp2 HG01496.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0250 a0001c0001t0008g0223 a0001c0001t0004g0250 a0001c0001t0008g0223	2	208	0.0096	813	c.284 others(832): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLC12A7_chr5_1045384_1117063	1098238	A A	ACCCAGGC others(806): Show ACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTC TGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTT TAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCC CCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCA GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATG CCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCC TCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCC CCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCC AGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCA CACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTC TGCACGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAAC CCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTC TAACCCTCTGCATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	81	0.0123	813	c.125 others(830): Show c.125-3991_125-3990insCATGCAGAGGGTTAGAGGGGGGCTGGGT GAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGG GGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGG TTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAG AGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGA GCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGG GTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGG GGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTA GAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAAAGGGGGCCTGGGC ATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(806): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGG ACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTA CTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	92	0.0109	813	c.-11 others(824): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(806): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGG ACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTA CTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp1 others(50): Show HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02717.hp2 HG02735.hp1 HG03017.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 NA18954.hp2 NA18969.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0010 a0003c0004 others(1): Show a0001c0001 a0001c0010 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0010t0001 a0003c0004t0005 a0004c0005t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0006g0085 a0001c0001t0006g0099 a0001c0001t0016g0084 a0001c0001t0017g0097 a0001c0010t0001g0081 a0003c0004t0005g0101 a0004c0005t0005g0092 a0004c0005t0005g0093	53	144	0.3681	813	c.-11 others(824): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(806): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	3	0.3333	813	c.597 others(830): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(806): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCC ACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCC TATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCA TCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCAC CCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATA TCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCAC CGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCAC CCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCAC CCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCAT CCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCAT CCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTAT CCACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCAC CTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCA TCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTA TCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCA TCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	28	0.0357	813	c.113 others(832): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCC ACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACCATCCA CTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATC CCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCT GTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCT ATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTCC ATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCATCCA CCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATCCACCCA CCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTCTATCCA CCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCA CCCACCCACACACCCACACTATCCACCCACCCACACACCCTATCTACCCA CCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACCCTATCT ATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCATCCATCC ATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTATCTATCC ACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TNR_chr1_175310194_175748595	175650927	C C	CCTCATTA others(806): Show CCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCATCTCATTA CTCCCCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCC CACCTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCCACCTCA TTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCT CCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCCATCTCAT TACTCCTCCTCCCCCATCTCATTACTACCTGTCCCCCACCTCCTTACTAC CCCTCCCCCACCTCATTACTACCCATCTCCCACCTCATTCCTCCTCCTCC CCACCTCATTACTACCCCTCTCCCACCTCATTACTACCCCTCCCCACCTC ATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCATCTCATTACTCC CCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCACC TCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCCACCTCATTAC TACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCC ATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCCATCTCATTACT CCTCCTCCCCCATCTCATTACTACCTGTCCCCCACCTCCTTACTACCCCT CCCCCACCTCATTACTACCCATCTCCCACCTCATTCCTCCTCCTCCCCAC CTCATTACTACCCCTCTCCCACCTCATTACTACCCCTCCCCACCTCATTA CTACTCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp1 others(11): Show HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01978.hp1 HG02056.hp2 HG02280.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03669.hp2 NA18964.hp1 NA18983.hp2 NA18998.hp1 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0043 others(4): Show a0001c0002 a0001c0003 a0001c0043 a0002c0006 a0002c0007 a0003c0001 a0004c0017	a0001c0002t0001 a0001c0002t0060 a0001c0003t0025 others(9): Show a0001c0002t0001 a0001c0002t0060 a0001c0003t0025 a0001c0043t0018 a0002c0006t0010 a0002c0007t0010 a0002c0007t0045 a0003c0001t0002 a0003c0001t0005 a0003c0001t0014 a0003c0001t0036 a0004c0017t0002	a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0060g0048 others(11): Show a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0060g0048 a0001c0003t0025g0001 a0001c0043t0018g0054 a0002c0006t0010g0129 a0002c0007t0010g0024 a0002c0007t0045g0047 a0003c0001t0002g0051 a0003c0001t0005g0034 a0003c0001t0014g0058 a0003c0001t0014g0059 a0003c0001t0036g0106 a0004c0017t0002g0021	14	93	0.1505	813	c.-16 others(834): Show c.-165+92298_-165+92299insATGGGGAGGAGTAGTAATGAGGTG GGGAGGGGTAGTAATGAGGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGA GGAGGAATGAGGTGGGAGATGGGTAGTAATGAGGTGGGGGAGGGGTAGTA AGGAGGTGGGGGACAGGTAGTAATGAGATGGGGGAGGAGGAGTAATGAGA TGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGT AGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGT GGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGAGGTGGGGAGG GGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGGGGGAGTAATGA GATGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGGA GGGGTAGTAATGAGGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGAGGAG GAATGAGGTGGGAGATGGGTAGTAATGAGGTGGGGGAGGGGTAGTAAGGA GGTGGGGGACAGGTAGTAATGAGATGGGGGAGGAGGAGTAATGAGATGGG GAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTA ATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGG AGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGAGGTGGGGAGGGGTA GTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGGGGGAGTAATGAGATG GGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(806): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCACCACCCCTGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCAC CCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTG GTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATT AATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCCA TCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTG GATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATT AATACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG02818.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0224 a0002c0002t0001g0218 a0001c0001t0002g0224 a0002c0002t0001g0218	2	248	0.0081	813	c.141 others(832): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCACCACC CCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAG GATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCAC CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGG ATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAA TCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCC CTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGG ATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAA TACCCCATCACCCCTGGATTAATCCCCCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTLL8_chr22_50013575_50063298	50029385	C C	CCCCATCA others(806): Show CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACGTCCTGAAGACCCACACACACTCGTAAAGA CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAG ACCCCACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACA CACCCTCGTAAAGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	222	0.0045	813	c.225 others(832): Show c.2251+1044_2251+1045insTCTTTACGAGGGTGTGTGGGGGTCTT TAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGTCTTTA CGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTG TGTGTGGGTCTTCAGGACGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(806): Show ACACACACCACACCCCACACCACACCACACCCCATACACACCACACCCCA CACACACCACACACCCCACACACACCACACAAACCACACACCCTACACAC CCCACACACACCACACACACACATCACATACCACACACACATCACATACC ACACACAAACCACACACCACACACACACCACACACCCCACACACACATCA CATACCACACACAAACCACACACCCAACACACACATCACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCTACACACACC ACACACCCCACACACACATCACACACCACACACACCACACACACCACACA CACACCACACACACACATCACATACCACACACCCGACACACGCCACACAC ACACCACACACCCCACGCACACATCACATACCACACACAAACCACACACC CTACACACACCACACACCCACACACCACACACACACACCACACACACATC ACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCACAC ACACCACACACCCCACACACACACCACACACCCCACACACACATCACATA CCACACACCCCACACACCCCACACACCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCTACACGCACCACACAC CCCACACACACCACACACCCGACACACGCCACACACACACCACACACCCC ACGCACACATCACATACCACACACAAACCACACACCCTACACACCCCACA CACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	35	0.0286	813	c.35 others(832): Show c.35+22426_*35+22427insCCCACACCACACCACACCCCATACAC ACCACACCCCACACACACCACACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCACACACACACATCACATACCACACACA CATCACATACCACACACAAACCACACACCACACACACACCACACACCCCA CACACACATCACATACCACACACAAACCACACACCCAACACACACATCAC ACACCACACACCCCACACACACATCACATACCACACACAAACCACACACC CTACACACACCACACACCCCACACACACATCACACACCACACACACCACA CACACCACACACACACCACACACACACATCACATACCACACACCCGACAC ACGCCACACACACACCACACACCCCACGCACACATCACATACCACACACA AACCACACACCCTACACACACCACACACCCACACACCACACACACACACC ACACACACATCACATACCACACACAAACCACACACCCCCACACACCCCAC ACACCCCACACACACCACACACCCCACACACACACCACACACCCCACACA CACATCACATACCACACACCCCACACACCCCACACACCACACACACACCA CACACCCCACACACACATCACATACCACACACAAACCACACACCCTACAC GCACCACACACCCCACACACACCACACACCCGACACACGCCACACACACA CCACACACCCCACGCACACATCACATACCACACACAAACCACACACCCTA CACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(806): Show TAATAATATAATATATATTATTATATATAATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATATATTATATTATTATATATAATTATATATA ATAATATAATATATATTATTATATATTATTATATATAATAATATAATATA TATTATTATATATAATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATAATATATAATAATATATATATAT TATTATATATAATTATATATAATAATATAATATATATTATTATATATAAT TATATATAATAATATAAATATATTATTATATATTATTATATATAATAATA TAATATATATTATATATTATTATATATAATAATATAATATATATTATATA TTATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATAATAATATAAT ATATATTATTATATATTATTATATATAATAATATAATATATATTATTATA TATAATAATATAATATATATTATTATATATTATTATATATAATAATATAA TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	83	0.0120	813	c.392 others(830): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATATTATATTATTATAT ATAATAATATATAATAATATATATTATATTATTATATATAATAATATATA TTATATTATTATATATAATAATATATAATAATATATATTATATTATTATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATATATTATATTATTATATATAATAAT ATATAATAATATATATTATATTATTATATATAATAATATATAATATATAT TATATTATTATATATAATAATATATAATATATATTATATTATTATATATA ATAATATATAATAATATATTTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATATATATATTA TTATATATTATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATTATATTATTATATATAATTATATATAATAATAT ATATTATATTATTATATATAATTATATATAATAATATATATTATATTATT ATATATAATAATATATAATAATATATATTATATTATTATATATAATTATA TATAATAATATAATATATATTATTATATATAATTATATATAATAATATAT ATTATATTATTATATATAATTATATATAATAATATATATTATATTATTAT ATATAATTATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UCN3_chr10_5359966_5379692	5370252	T T	TGTGTATA others(806): Show TGTGTATATGCGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTA TATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTA TGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTG TGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGTG TATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTG TGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTG TATGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTA TATATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATG TGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTG TATGTGTGTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATATG TGTGTATGTGTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGTA TGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGTATGTGTGTATGTGTG TGTATATGATGTGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0137 a0002c0002t0003g0137	1	444	0.0023	813	c.-6- others(828): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT GTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTAT GCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGT ATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGT GTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGT ATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGT GTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGT GTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGT GTATGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGT ATATATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTAT GTGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGT GTATGTGTGTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATAT GTGTGTATGTGTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGT ATGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGTATGTGTGTATGTGT GTGTATATGATGTGAGTGTATATGCGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(806): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTG GGACGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0186 a0001c0006t0004g0186	1	274	0.0036	813	c.218 others(830): Show c.2182+127_2182+128insAGGCTGTGGGACGGGGGTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGACGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGG ACGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGACGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(806): Show AACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCTTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	350	0.0029	813	c.339 others(830): Show c.339+1128_339+1129insCAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CTTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(806): Show AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACACGAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA ATCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAAT CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0207 a0001c0001t0004g0207	1	350	0.0029	813	c.339 others(830): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACACGAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AATCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAA TCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294622	A A	AGCCACAC others(806): Show AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCACGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAG TTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGA AGTGAGTGGAGTCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	387	0.0026	813	c.340 others(830): Show c.340-1535_340-1534insACAAGTTAAACTCTAGATTAAATTCCTC CCACGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCT TGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(806): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATAATATATTATA AATAATATATTATATATTATATAATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATAAATAATATATTATATATAATATGTTATATATTATAAATAATATATTA TATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0264 a0001c0001t0118g0264	1	44	0.0227	813	c.-1- others(830): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATAATATATTATAAATAATATATTATATATTATATAATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATAAATAATATATTATATATAATATGTTATATAT TATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(807): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTT TATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGA TAAATATATCAATATATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATA AATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0185 a0001c0002t0006g0185	1	160	0.0063	814	c.130 others(833): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAAAT ATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar

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