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
NXN_chr17_794310_984776	952622	T T	TGGGGGGG others(770): Show TGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGG TCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGG GTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACT GTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	242	0.0041	777	c.360 others(796): Show c.360+26696_360+26697insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCC CCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCT GTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGG TTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTA CCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAG CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTCTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGT CCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCC C	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952860	A A	ACCACGGA others(770): Show ACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGT CAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT GGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAG ACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGG GCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGG AGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	242	0.0041	777	c.360 others(796): Show c.360+26458_360+26459insGTACCTGCCGGGTTCCAACCTTGGTC TGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGG TTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGA CTCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTG G	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(770): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TAACCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCC TACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	376	0.0027	777	c.15 others(788): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(770): Show GCTACCCCTGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	376	0.0027	777	c.15 others(788): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTA GGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(770): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	777	c.15 others(788): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(770): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	376	0.0027	777	c.15 others(788): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTA GGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(770): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	376	0.0027	777	c.15 others(788): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(770): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	777	c.15 others(788): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PLCXD1_chrX_276381_308356	297619	A A	ACATGGGA others(770): Show ACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCA TGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACAT GGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATG GGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCCCCCACATGG GGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGG GATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGA TTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGAT TAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCATGGGGATT AGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTA GGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTAGGA CGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGAC GTGGACATCTTTGGGGACATTATTCTGTCTACCTCATGGGGATTAGGATG TGGACATCTTTGGGGACATTATTCTATCACATGGGGATTAGGACGTGGAC ATCTTTGGGGACATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0042 a0001c0010t0042	a0001c0010t0042g0163 a0001c0010t0042g0163	1	176	0.0057	777	c.734 others(794): Show c.734-1472_734-1471insATTAGGACGTGGACATCTTTGGGGCCAT TATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGCCATTA TTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTAT TCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATT CTGTCCCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGT CTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTC TACCTCATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCT ACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTA TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC CACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTC ATGGGGATTAGGATGTGGACATCTTTGGGGACATTATTCTATCACATGGG GATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCATGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137502703	C C	CGGGGGAC others(770): Show CGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGCGGGGGACGGGGGGGGCGGGGGGGACGCGGGGGACGGGGGGGGCGG GGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGG GCGGGGGGGACGCGGGGGACGGGGGGGGCGGGGGGGACGCGGGGGGGACG CGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGC GGGGGACGCGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACG CGGGGGGGACGCGGGGGACGGGGGGACGGGGGGGACGCGGGGGACGCGGG GGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACG CGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGAC GCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCG GGGGGGACGCGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCG GGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGA CGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCG GGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGA CGCGGGGGGACGCGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGACG CGGGGGACGCGGGGGACGCGGGGGACGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0027 a0027	a0027c0046 a0027c0046	a0027c0046t0001 a0027c0046t0001	a0027c0046t0001g0102 a0027c0046t0001g0102	1	188	0.0053	777	c.147 others(794): Show c.1474-977_1474-976insCCGTCCCCCGCGTCCCCCGCGTCCCCCG CGTCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCGCGTCCCCCCGCG TCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCC CGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCG TCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCC CGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCGCGTCCCCCC CGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGC GTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCG CGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCC CCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCGTCCCCCGCGTCCCCCCCG CGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGCGTCCCCC GCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCG CGTCCCCCCCGCGTCCCCCCCGCCCCCCCCGTCCCCCGCGTCCCCCCCGC CCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC CCGCCCCCCCCGTCCCCCGCGTCCCCCCCGCCCCCCCCGTCCCCCGCGTC CCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397540	G G	GGGGGGCG others(770): Show GGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCG GGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0016 a0001c0027t0016	a0001c0027t0016g0075 a0001c0027t0016g0075	1	340	0.0029	777	c.227 others(794): Show c.227+3411_227+3412insGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(770): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACATTATACATTATTAT ATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTAT ATAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp2 NA18968.hp1 others(1): Show NA18747.hp1 NA18747.hp2 NA18968.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0026	a0001c0001t0004g0220 a0001c0001t0005g0031 a0001c0001t0015g0032 others(1): Show a0001c0001t0004g0220 a0001c0001t0005g0031 a0001c0001t0015g0032 a0001c0001t0026g0030	4	220	0.0182	777	c.24+ others(794): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACATTATACATTATTATATAAGTATATGTAATACATTATACATTAT TATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTA ATATATATTATACATTATTATATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(770): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTC ACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCC TCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	154	0.0065	777	c.-32 others(798): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGG TGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTATATTA others(770): Show TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAGTA TATTATGGATAATATAATATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAATATATTATATAATATATTATATTATGGATAATATAATATATT ATATAATATATTATATTATGGATAATATAATATATTATATAATATATTAT ATTATGGATAATATAATATATTATATAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0098 a0001c0001t0013g0098	1	160	0.0063	777	c.389 others(798): Show c.389-154406_389-154405insGGATAATATAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAGTATATTATGGATAATATAATATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATA TAATATATTATATAATATATTATATTATGGATAATATAATATATTATATA ATATATTATATTATGGATAATATAATATATTATATAATATATTATATTAT GGATAATATAATATATTATATTATATTATGGATAATATAATATATTATAT TAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACGGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC CGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0018 a0001c0001t0034g0018	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0013 a0001c0004t0026g0013	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0014 a0001c0004t0004g0014	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA20805.hp1 HG04184.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0003 a0001c0001t0015 a0001c0002t0003	a0001c0001t0015g0036 a0001c0002t0003g0033 a0001c0001t0015g0036 a0001c0002t0003g0033	2	133	0.0150	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(770): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACA CATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACG GGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	133	0.0075	777	c.-39 others(788): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356458	A A	AGGCGACC others(770): Show AGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCG CACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTA CTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGT CTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCG ACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCA CACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAAC AGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCA CAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGC GCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTT ACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCG CCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGC GACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACC ACACTTACTAACAGTCGTCTTCACAGGCGACCGTGCACCACACATACTAA CAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAGTCGCCTTC ACGGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCG TGCACACTTACTAACAGTCATCTTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0035 a0003c0005t0005g0035	1	133	0.0075	777	c.-39 others(788): Show c.-3960_-3959insCGTGAAGATGACTGTTAGTAAGTGTGCACGGTCG CCCGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGC GACTGTTAGTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTA TGTGTGGTGCACGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCA CGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGT GAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGT GGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGG CGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT AAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGC GCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTG TGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACT GTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTG TGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGT CGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3652		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(770): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCATCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	203	0.0049	777	c.167 others(792): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGATGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAA GGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTT TTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(770): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATATTCCATATATAT ATATATATTCCATATATATATATATTCCATATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATTCCATATATATATATTCCAT ATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	324	0.0031	777	c.115 others(794): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATATGGAATATATATATATATGGAATATATAT ATATATATGGAATATATATATATATGGAATATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCACTTC others(770): Show TCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACTT CCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTAC CTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACTT CCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTAC CTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCT CCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0149 a0001c0023t0001g0149	1	160	0.0063	777	c.688 others(794): Show c.688-2422_688-2421insCACTTCCTCCTCCACCTCCTCCTCTACC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCAC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGGCG others(770): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGG GGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGG AGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGG GGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	150	0.0067	777	c.531 others(794): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACT CCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCC CCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTC CCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTCTC CCTCCTTCCCGCCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGC CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPON1_chr11_13957723_14273133	13959338	A A	ACACAAGC others(770): Show ACACAAGCAAAACAAAACAACGATAGAAAACCACCAAAAATAAAAAAACA AAGCAAACAAAACAACAAAAAAACAAACACAAAAAAAAACAACACAAAAT AAGCAAACAAAATCAAAACAAGTCAAAAAAAAAAACCAAAATAAAAGAAA AAACAAAACAATAAACACAAAAAAAAAAATAACAAAATAATAACACCATA AAAACAACAAAAAAAAAAACAAATCAAAAAAATCAAAACACAAAAAAAAA ATCAACAAAAAAACAAAACAGAATCAACAGAAACAAACAACAAATCAAAA AAAGCACAAGAGTCAAAACAAAAAAGAAAGAATATCAACAAGACACAACA AAAACAAACATCAAAAAACAAAAAAAGATCAAACAAACAACAAAAAAAGA ACAAAAAGCAAAAAATCGACAATCAAAGCAAATAACTCAAAAAACAAACA GACAAAACAAATTCAACAAACAAAAACAAAACAAATAGATCAATAAACAA TCAGAAAAACAAATCAAAAATAACAAAACAATTCAAAAAAAAAAGACAAA ATCAAAAAACATTCATAAACACGAAAAAACAAAAAATCACTAAGGCAAAA CAAAAAGAAAACTAATCAACATCAAACTACCAGAAGATTCAAAAACAGAA ACACTCAAAAAACGAACTCAATCACACAAGACAAACAAAAACTCACAAAA AAAAACCAAAACCTACAAATTACATACAAAGAAAAACAAAACAAAACACG AAACAACACACAAAAAAAAAAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0066	1	224	0.0045	777	c.-35 others(788): Show c.-3567_-3566insCACAAGCAAAACAAAACAACGATAGAAAACCACC AAAAATAAAAAAACAAAGCAAACAAAACAACAAAAAAACAAACACAAAAA AAAACAACACAAAATAAGCAAACAAAATCAAAACAAGTCAAAAAAAAAAA CCAAAATAAAAGAAAAAACAAAACAATAAACACAAAAAAAAAAATAACAA AATAATAACACCATAAAAACAACAAAAAAAAAAACAAATCAAAAAAATCA AAACACAAAAAAAAAATCAACAAAAAAACAAAACAGAATCAACAGAAACA AACAACAAATCAAAAAAAGCACAAGAGTCAAAACAAAAAAGAAAGAATAT CAACAAGACACAACAAAAACAAACATCAAAAAACAAAAAAAGATCAAACA AACAACAAAAAAAGAACAAAAAGCAAAAAATCGACAATCAAAGCAAATAA CTCAAAAAACAAACAGACAAAACAAATTCAACAAACAAAAACAAAACAAA TAGATCAATAAACAATCAGAAAAACAAATCAAAAATAACAAAACAATTCA AAAAAAAAAGACAAAATCAAAAAACATTCATAAACACGAAAAAACAAAAA ATCACTAAGGCAAAACAAAAAGAAAACTAATCAACATCAAACTACCAGAA GATTCAAAAACAGAAACACTCAAAAAACGAACTCAATCACACAAGACAAA CAAAAACTCACAAAAAAAAACCAAAACCTACAAATTACATACAAAGAAAA ACAAAACAAAACACGAAACAACACACAAAAAAAAAAAATAAAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		3384		chr11	TogoVar
TERT_chr5_1248167_1300068	1273751	C C	CCGCCATC others(770): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACAA CCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGT CACCACACATCAGACCCCTGTGACCGAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	392	0.0026	777	c.228 others(796): Show c.2287-1472_2287-1471insATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGC GGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGTGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC G	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(770): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0374 a0003c0003t0003g0374	1	444	0.0023	777	c.227 others(796): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG C	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(770): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0215 a0005c0004t0001g0215	1	444	0.0023	777	c.227 others(796): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG C	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(770): Show AGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGT TAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAG ACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGG GTTAAGGAGGCCGGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	466	0.0022	777	c.48 others(788): Show c.4818_*4819insCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCT AACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACC CTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAG CCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TRIM28_chr19_58539064_58555715	58539695	C C	CCCTCCTC others(770): Show CCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGA CGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCC CCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACC CTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTC CTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACATGA TTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAACCTGCT TCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAG ACATGATTCTTCTCACACACACCCTGCTTCCCTCAGACAGGATTCTCCCC ACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAACCT GCTTCCCTCCTCAGACAGGATTCTCCCCACAAACACCCTGCTTCCCTCCG CAGACAGGATTCTCCCCACAGAGACCCTGCTTCCCTCCTCAGACAGGATG CTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACA CACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCCACTTC CCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGG ATTTTCCCCACACAGACCCTGCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	777	c.-50 others(788): Show c.-5063_-5062insCCTCCTCAGACAGGATTCTTCTCACACACACCCT GCTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCT CAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATT CTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACA GAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTC CCTCCTCAGACATGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGAC AGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCC CACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCC TGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCCTGCTTCCCTCA GACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCT CCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAAACA CCCTGCTTCCCTCCGCAGACAGGATTCTCCCCACAGAGACCCTGCTTCCC TCCTCAGACAGGATGCTCCCCACACACACCCTGCTTCCCTCCTCAGACAG GATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCA CACACACCCCACTTCCCTCAGACAGGATTCTCCCCACACAGACCCTGCTT CCCTCCTCAGACAGGATTTTCCCCACACAGACCCTGCTTCCCT	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4368		chr19	TogoVar
TWIST2_chr2_238843085_238915534	238870940	C C	CACACACC others(770): Show CACACACCCCACACACACCACACCCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACACCACACACCCCACACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACAC ACCACACCCCACACACACCACACCCCACACACCCCACACACACCACACAC CCCACACACACCACACACACCACACACCCCACACACACCACACACACCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACACCACACCCCACACACACCACACACACCACAGCCCACAC ACACCACACACACCACACCCCACACACA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	338	0.0030	777	c.35 others(796): Show c.35+22207_*35+22208insACACACCCCACACACACCACACCCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACACCACACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACACCACACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACACACCACACCCCACACACACCACACCCCA CACACCCCACACACACCACACACCCCACACACACCACACACACCACACAC CCCACACACACCACACACACCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACACCACACCCCACACAC ACCACACACACCACAGCCCACACACACCACACACACCACACCCCACACAC A	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ZDHHC20_chr13_21367571_21464303	21448226	A A	ATCCGGGA others(770): Show ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGG AGCCCCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCA GCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCCGCCTGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCGGGCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	302	0.0033	777	c.118 others(796): Show c.118+10827_118+10828insCGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGAGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGCCCGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCAGGCGGGG GGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCATCTCCCTCCTGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCC GGACAGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG A	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12			chr13	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(770): Show GGGAAAGGAAGGGAGGGGAGGGGAGGGAGGGAGAAAAGGGAAGTGAGAGG AAGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAG GGAAGGGAGGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGGAG GGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGA GGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGA GGGAGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGAGGGGAGGGGAGG GGAGGGAGGGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGA AGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAG GGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGGAAGGGGAGGGAGGGG AGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGA GGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGG GAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGG AGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGA AGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	290	0.0035	777	c.205 others(796): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCT CCCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTC ACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCC CTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCCCTCCCT CCCCTCCCCTCCCCTCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTC CCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCC CCTCCCTCCCCTTCCCTCCACTCCCTCCCCTTCCCTCCCTCCCCTCCCTC CCCTCCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCCTCCCTT CCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCC TTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCCTCCCCTCCCTTCCTTTC C	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(770): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATATAT ATATACAAGTATATATATATACTTGTATACATATATACTATATATATACG TATATACACGTATATACGTATATATATGTATATATACGTATATACATGTA TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACATGTATATATATACGTATATATA CACATATATACATGTATATATATACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATACATGTATATA TACACATATATACATGCGTATATATATACGTATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACACATATATACATGCGTATATATATACGTATGTATA TATGTATATATACGTATATACATGTATATATATATACGTATATATACATA TATACGTATATATATATACGTATATATACATATATATACATGTATATATA TGTGTGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0259 a0002c0002t0003g0259	1	383	0.0026	777	c.-42 others(788): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATATATATATACAAGTATATATATATACTTGTATACATATA TACTATATATATACGTATATACACGTATATACGTATATATATGTATATAT ACGTATATACATGTATATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACATGTATAT ATATACGTATATATACACATATATACATGTATATATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATACATGTATATATACACATATATACATGCGTATATATATACGTATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACACATATATACATGCGTATAT ATATACGTATGTATATATGTATATATACGTATATACATGTATATATATAT ACGTATATATACATATATACGTATATATATATACGTATATATACATATAT ATACATGTATATATATGTGTGTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(771): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTATATATTTATAGATAAATATATATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0273 a0001c0001t0020g0273	1	306	0.0033	778	c.130 others(797): Show c.1308+1278_1308+1279insTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATATATATTTATCTATAAATATATAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATACATTTAT CTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTT ATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATAT AAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTAT CTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTT ATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATAT AAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTAT CTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTT ATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATAT AAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTAT CTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTT ATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATAT AAAAATATTTATACATTTATCTATAAATATAAAAATATTTATATATTTAT CT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(771): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTC AGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0003 a0001c0001t0034g0003	1	337	0.0030	778	c.61+ others(793): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGG TGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGA GGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGG TGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTG AGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAG GTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173311	C C	CCACACAT others(771): Show CCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCC ACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCC ACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGT CACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTC AGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCC CCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCC CACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT CAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACC TCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCC CACCCCCCCCATCACCTCAGCCCACCCAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02129.hp2 HG02698.hp1 others(4): Show HG01169.hp1 HG02129.hp2 HG02698.hp1 HG02970.hp2 HG04204.hp1 NA18906.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0081 a0001c0001t0090 a0001c0002t0007	a0001c0001t0004g0252 a0001c0001t0005g0296 a0001c0001t0006g0090 others(4): Show a0001c0001t0004g0252 a0001c0001t0005g0296 a0001c0001t0006g0090 a0001c0001t0010g0300 a0001c0001t0081g0253 a0001c0001t0090g0301 a0001c0002t0007g0295	7	337	0.0208	778	c.61+ others(793): Show c.61+6355_61+6356insTTGGGTGGGCTGAGGTGATGGGGGGGGTGG GCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAG GTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG GGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGAC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGT GATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGG GGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTG AGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA CGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTG GGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTG GGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289629	T T	TCCGTCCC others(771): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	295	0.0034	778	c.39 others(789): Show c.3934_*3935insGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2761		chr1	TogoVar
ADAMTS16_chr5_5135330_5325304	5305385	A A	ACACACAT others(771): Show ACACACATCCCACACCACACACACACTTCCCACACCACACACACACACAC TTCCCACACCACACACACACAAATCCCACACCAGACACACACACATCCCA CACCACACACACACACCACACACACCACACCACAGACACACACATCCCAC ACCACACACCCCCCACACACACACATCCCACACCACACACAGACATCCCA CACCACACACACATCCCACACCACACACACACACATCCCGCACCACACAC TCACACATCCCACACCACACATACACATCCCACACCACACACACATACCA CACCACACACACACACATCCCACACCACACACACACACATCCCACACCAC ACACATCCACACCACACACACACACATCCCACACCAGACACACACATCCC ACACACACACACACACCCCACATCACACACACAATCACAAACACACATCC CACACCACACACACATCCCACACCACACACACACATCCCACACACACACA CACCCACCACACACACACACACATCCCACACCACACACACAATCCCACAC CACACACACACACAATCCCACACCACACACACACATCCCATACCACACAC ACATCCCACGCCACACACACACACACACCCCACACCACACACACATCCCA CACCACACACATCCACACCACACACACACATCCCACACCACACATACACA CACACATCCCATACCACACACATCCCACACCACACACACATCCCACACCA CACACACATCCCACACCACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0009 a0004c0024t0009	a0004c0024t0009g0101 a0004c0024t0009g0101	1	332	0.0030	778	c.318 others(797): Show c.3187-1119_3187-1118insCACACATCCCACACCACACACACACT TCCCACACCACACACACACACACTTCCCACACCACACACACACAAATCCC ACACCAGACACACACACATCCCACACCACACACACACACCACACACACCA CACCACAGACACACACATCCCACACCACACACCCCCCACACACACACATC CCACACCACACACAGACATCCCACACCACACACACATCCCACACCACACA CACACACATCCCGCACCACACACTCACACATCCCACACCACACATACACA TCCCACACCACACACACATACCACACCACACACACACACATCCCACACCA CACACACACACATCCCACACCACACACATCCACACCACACACACACACAT CCCACACCAGACACACACATCCCACACACACACACACACCCCACATCACA CACACAATCACAAACACACATCCCACACCACACACACATCCCACACCACA CACACACATCCCACACACACACACACCCACCACACACACACACACATCCC ACACCACACACACAATCCCACACCACACACACACACAATCCCACACCACA CACACACATCCCATACCACACACACATCCCACGCCACACACACACACACA CCCCACACCACACACACATCCCACACCACACACATCCACACCACACACAC ACATCCCACACCACACATACACACACACATCCCATACCACACACATCCCA CACCACACACACATCCCACACCACACACACATCCCACACCACACACACAC AC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305385	A A	ACACACAT others(771): Show ACACACATCCCACACCACACACACACTTCCCACACCACACACACACACAC TTCCCACACCACACACACACAAATCCCACACCAGACACACACACATCCCA CACCACACACACACACCACACACACCACACCACAGACACACACATCCCAC ACCACACACCCCCCACACACACACATCCCACACCACACACAGACATCCCA CACCACACACACATCCCACACCACACACACACACATCCCGCACCACACAC TCACACATCCCACACCACACATACACATCCCACACCACACACACATACCA CACCACACACACACACATCCCACACCACACACACACACATCCCACACCAC ACACATCCACACCACACACACACACATCCCACACCAGACACACACATCCC ACACACACACACACATCCCACATCACACACAATCACAAACACACATCCCA CACCACACACACATCCCACACCACACACACACATCCCACACACACACACA CCCACCACACACACACACACATCCCACACCACACACACAATCCCACACCA CACACACACACAATCCCACACCACACACACACATCCCATACCACACACAC ATCCCACGCCACACACACACACACACACCCCACACCACACACACATCCCA CACCACACACATCCACACCACACACACACATCCCACACCACACATACACA CACACATCCCATACCACACACATCCCACACCACACACACATCCCACACCA CACACACATCCCACACCACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19060.hp1 HG02027.hp2 NA19060.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0019 a0002c0002 a0009c0019	a0002c0002t0002 a0009c0019t0003 a0002c0002t0002 a0009c0019t0003	a0002c0002t0002g0292 a0009c0019t0003g0287 a0002c0002t0002g0292 a0009c0019t0003g0287	2	332	0.0060	778	c.318 others(797): Show c.3187-1119_3187-1118insCACACATCCCACACCACACACACACT TCCCACACCACACACACACACACTTCCCACACCACACACACACAAATCCC ACACCAGACACACACACATCCCACACCACACACACACACCACACACACCA CACCACAGACACACACATCCCACACCACACACCCCCCACACACACACATC CCACACCACACACAGACATCCCACACCACACACACATCCCACACCACACA CACACACATCCCGCACCACACACTCACACATCCCACACCACACATACACA TCCCACACCACACACACATACCACACCACACACACACACATCCCACACCA CACACACACACATCCCACACCACACACATCCACACCACACACACACACAT CCCACACCAGACACACACATCCCACACACACACACACATCCCACATCACA CACAATCACAAACACACATCCCACACCACACACACATCCCACACCACACA CACACATCCCACACACACACACACCCACCACACACACACACACATCCCAC ACCACACACACAATCCCACACCACACACACACACAATCCCACACCACACA CACACATCCCATACCACACACACATCCCACGCCACACACACACACACACA CCCCACACCACACACACATCCCACACCACACACATCCACACCACACACAC ACATCCCACACCACACATACACACACACATCCCATACCACACACATCCCA CACCACACACACATCCCACACCACACACACATCCCACACCACACACACAC AC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADARB1_chr21_45069580_45231560	45156159	C C	CCACCCAT others(771): Show CCACCCATCCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCC ATCCATCCACCCACCCACCCACCCATCATCACCCATCACCCATCATCTAT CTATCCATCCATCCACCCATCCATCATTACCCATCATCCATCTATCCATG CACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCACCATCAC CCATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACCCATCATC CATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCATCATCCA TTCATCCATCCATCCATCCACCTACCCATCATCACCCATCATCTGTCATC CATCCATCCATCCACCCACCCACCCATCATCACCCATCACCCATCATCTA TCCAGCCATCCATCCACCCACCCATCATCACCCATCACCCATCATCCATC CATCCATCCACCCACCCATCATCACCCATCACCCATCATCCATCTATCCA TCCACCCACCCATCATCACCCATCACCCATCATCCATCCATCCATCCATC CACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATCCA CCCACCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCATC ACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCATC CATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCCAT CCACCCACCCATCATCACCTATCATCCAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0101 a0001c0002t0101	a0001c0002t0101g0342 a0001c0002t0101g0342	1	350	0.0029	778	c.-47 others(797): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCATCCATCCATCCACCTACCCAT CATCACCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCATCA TCACCCATCACCCATCATCTATCCAGCCATCCATCCACCCACCCATCATC ACCCATCACCCATCATCCATCCATCCATCCACCCACCCATCATCACCCAT CACCCATCATCCATCTATCCATCCACCCACCCATCATCACCCATCACCCA TCATCCATCCATCCATCCATCCACCCACCCATCATCACCCATCACCCATC ATCTATCTATCCATCCATCCACCCACCCATCATTACCCATCATCCATCTA TCCATGCACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCAC CATCACCCATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACCC ATCATCCATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCAT CA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(771): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCACCCATTCATCCATCCACCCATCCACTCATCCATTCACC CACCCATTCATCCATCCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATCCACCCACCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTTA CCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCATAT ACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCAT TCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATT CACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0040 a0002c0041t0040	a0002c0041t0040g0061 a0002c0041t0040g0061	1	262	0.0038	778	c.775 others(793): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGAATGGATGAGTGGATGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGG GTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTG GAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGG TGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(771): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCC GGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0060 a0001c0001t0020g0060	1	292	0.0034	778	c.207 others(799): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(771): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0003 a0001c0008t0001g0003	1	391	0.0026	778	c.36 others(789): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(771): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00673.hp1 others(37): Show HG00408.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01175.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp2 NA18952.hp2 NA18975.hp1 NA18982.hp2 NA18990.hp2 NA18995.hp2 NA19005.hp2 NA19007.hp1 NA19056.hp1 NA19064.hp2 NA19066.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0011 a0001c0002 a0003c0011	a0001c0002t0001 a0003c0011t0001 a0001c0002t0001 a0003c0011t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0012 others(7): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0043 a0003c0011t0001g0002	40	300	0.1333	778	c.-70 others(787): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAA GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar

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