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
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(438): Show AAGGGGAAGGGGGAAGGGGGAGGGGGGAAGGGGGAGGGGGAGGGGGAGGG GGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGA ACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGG GAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAA CGGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	251	0.0040	445	c.34 others(454): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCCGTTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCC ATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCC CTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCC TTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCCTCCCCCTTCCC CCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUCO_chr1_172528150_172616833	172571917	C C	CGGGAGGG others(438): Show CGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCCCC CTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTC TGGGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCAGCCAGCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	340	0.0029	445	c.104 others(464): Show c.1049+1187_1049+1188insGGGAGGGAGGTGGGGGTCAGCCCCCG CCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCC CGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCAGGA GGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCATCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCAGCCAGCCGCCCCGT	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUCO_chr1_172528150_172616833	172571917	C C	CGGGAGGG others(438): Show CGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCCCC CTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTC TGGGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCAGCCAGCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp2 others(6): Show HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02630.hp1 HG02965.hp1 HG03453.hp2 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0004 a0005c0016t0004 a0001c0001t0004 a0005c0016t0004	a0001c0001t0004g0041 a0001c0001t0004g0057 a0001c0001t0004g0108 others(6): Show a0001c0001t0004g0041 a0001c0001t0004g0057 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0116 a0005c0016t0004g0107	9	340	0.0265	445	c.104 others(464): Show c.1049+1187_1049+1188insGGGAGGGAGGTGGGGGTCAGCCCCCG CCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCC CGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCAGGA GGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCATCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCAGCCAGCCGCCCCGT	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUCO_chr1_172528150_172616833	172571917	C C	CGGGAGGG others(438): Show CGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCGGCCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCCCC CTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTC TGGGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCAGCCAGCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	340	0.0029	445	c.104 others(464): Show c.1049+1187_1049+1188insGGGAGGGAGGTGGGGGTCAGCCCCCG CCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCC TGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCAGGA GGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCATCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCAGCCAGCCGCCCCGT	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(438): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0225 a0001c0001t0006g0225	1	268	0.0037	445	c.75 others(456): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(438): Show GATTATAAATATAATCATATATAATATATGATTATAAAATATAATCATAT ATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAAT ATAATTATATATTATATATGATTATAAAATATAATTATATATATTATATA TGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTAT ATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	268	0.0037	445	c.75 others(456): Show c.7501_*7502insATTATAAATATAATCATATATAATATATGATTAT AAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTAT ATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAAT TATATATATTATATATGATTATAAAATATAATTATATATTATATATGATT ATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638057	A A	AAAAATAT others(438): Show AAAAATATATAATATATTATATATGATCATATATAATATATAATATATTA TATATGATCATATAAAATATATAATATATTATATATGATCATATAAAATA TATAATATATTATATATGATCATATAAAATATATAATATATTATATATGA TCATATAAATATATAATATATTAATATGATCATATAAATATATAATATAT TATATATGATCATATAAAATATATAATATATTATACATGATCATATAAAA TATATAATATACATGATCATATAAAATATATAATATAATATACATGATCA TATAAAATATATAATATACATGATCATATAAAATATATATTATACATGAT CATATAAAAATATATATATTATATATGATCATATATAATATATAATATAT TATATATGATCATATAAAATATATAATATATTATATATGATCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG01993.hp2 others(23): Show HG01928.hp1 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp2 HG03130.hp2 HG03239.hp1 NA18954.hp1 NA18957.hp2 NA18975.hp2 NA18981.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0033 a0001c0001t0034 a0001c0005t0004	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0004g0093 others(23): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0114 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0010g0052 a0001c0001t0010g0137 a0001c0001t0014g0018 a0001c0001t0020g0122 a0001c0001t0033g0069 a0001c0001t0034g0076 a0001c0005t0004g0165	26	268	0.0970	445	c.79 others(456): Show c.7902_*7903insAAAATATATAATATATTATATATGATCATATATA ATATATAATATATTATATATGATCATATAAAATATATAATATATTATATA TGATCATATAAAATATATAATATATTATATATGATCATATAAAATATATA ATATATTATATATGATCATATAAATATATAATATATTAATATGATCATAT AAATATATAATATATTATATATGATCATATAAAATATATAATATATTATA CATGATCATATAAAATATATAATATACATGATCATATAAAATATATAATA TAATATACATGATCATATAAAATATATAATATACATGATCATATAAAATA TATATTATACATGATCATATAAAAATATATATATTATATATGATCATATA TAATATATAATATATTATATATGATCATATAAAATATATAATATATTATA TATGATCATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4523		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638057	A A	AAAAATAT others(438): Show AAAAATATATAATATATTATATATGATCATATATAATATATAATATATTA TATATGATCATATATAATATATAATATATTATATATGATCATATAAAATA TATAATATATTATATATGATCATATAAAATATATAATATATTATATATGA TCATATAAATATATAATATATTAATATGATCATATAAATATATAATATAT TATATATGATCATATAAAATATATAATATATTATACATGATCATATAAAA TATATAATATACATGATCATATAAAATATATAATATAATATACATGATCA TATAAAATATATAATATACATGATCATATAAAATATATATTATACATGAT CATATAAAAATATATATATTATATATGATCATATATAATATATAATATAT TATATATGATCATATAAAATATATAATATATTATATATGATCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	268	0.0037	445	c.79 others(456): Show c.7902_*7903insAAAATATATAATATATTATATATGATCATATATA ATATATAATATATTATATATGATCATATATAATATATAATATATTATATA TGATCATATAAAATATATAATATATTATATATGATCATATAAAATATATA ATATATTATATATGATCATATAAATATATAATATATTAATATGATCATAT AAATATATAATATATTATATATGATCATATAAAATATATAATATATTATA CATGATCATATAAAATATATAATATACATGATCATATAAAATATATAATA TAATATACATGATCATATAAAATATATAATATACATGATCATATAAAATA TATATTATACATGATCATATAAAAATATATATATTATATATGATCATATA TAATATATAATATATTATATATGATCATATAAAATATATAATATATTATA TATGATCATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4523		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(438): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGG GGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0156 a0001c0003t0088g0156	1	276	0.0036	445	c.-18 others(464): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCTCCCTCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCT CCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCT CCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(438): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGGAGAGA GGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGGAGAGAGAGGGGGA GGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG GGGGAGAGAGAGGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0097 a0001c0004t0007g0097	1	276	0.0036	445	c.-18 others(464): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCC CTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCT CCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(438): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGGAGAGAGGGGGAGGGAGGGGGGGAGAG AGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGG AGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0121 a0001c0003t0022g0121	1	276	0.0036	445	c.-18 others(464): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCTCTCTCCCCCCCTCCCTCCCCCTCTCTCCCC CCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCT CCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628357	A A	AGGGGATG others(438): Show AGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCG GGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACACCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0098 a0001c0003t0008g0098	1	352	0.0028	445	c.299 others(460): Show c.299-932_299-931insGTGAGCTCTGCTGTCCCCTTCCCGCATCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCTCTG GTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCG CATCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGT TCTGCTGTCCCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGTTCTGCTGTCCCCT TCCCGCCTCATCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628563	C C	CGGGGTGA others(438): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAG GTGGGAAGGGGACACCAGAGCTCACAGGGGGTGATGCGGGAAAGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0151 a0001c0004t0008g0151	1	352	0.0028	445	c.299 others(462): Show c.299-1138_299-1137insTGTGAGCTCTGCTGTCCCTTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCTTTCCCGCATCACCCCCTGTGAGCT CTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCG CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCACCTCACCCCCTGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG TTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTT CCCACCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTG TGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGA others(438): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAA CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA20805.hp2 HG04115.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0005 a0001c0005t0004g0027 a0001c0005t0004g0005 a0001c0005t0004g0027	2	352	0.0057	445	c.299 others(462): Show c.299-1413_299-1412insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGA others(438): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0011 a0001c0005t0004g0011	1	352	0.0028	445	c.299 others(462): Show c.299-1413_299-1412insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCC TGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628972	G G	GGGGGTGA others(438): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGG GGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGGAGCGTGAAGGGGACAGCAGAGCTCATGGGGAT GGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0031 a0003c0006t0031	a0003c0006t0031g0129 a0003c0006t0031g0129	1	352	0.0028	445	c.299 others(462): Show c.299-1547_299-1546insGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTT CTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCACGCT CCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TTCTGTCCCCTTCCCGCCCCATCCCCGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273174	G G	GCCATCCA others(438): Show GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCACCATCCA CAGTCACCACACATCAGACCCCCGTGACCGATCACCATCCACAGTCACCA CACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACCCCC GTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACCACCA TCCACAGTCACCACACATCAGACCCCCGTGACCGATCACCATCCACAGTC ACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGAC CCCACGACTGCCATCCACAGTCACCACACATCAGACCCCACGACCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	392	0.0026	445	c.228 others(462): Show c.2287-895_2287-894insTGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACGGGGGTCTG ATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGTGATCGGTCACGGGGGTCTGATGTGTGGTGACTGTGGATGGTG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACGGGGG TCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(438): Show CGGCCACCATCCTGTAACGGAGGGGGAGCAGAGGGCCACCGTCTTGTAAC GGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCC ACTGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGG GGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCG TCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCA GGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGGGGCCACCGTCCTG TAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCG GGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACG GAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGGGCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp2 HG01496.hp1 HG02647.hp2	a0002 a0002	a0002c0014 a0002c0032 a0002c0014 a0002c0032	a0002c0014t0007 a0002c0032t0006 a0002c0014t0007 a0002c0032t0006	a0002c0014t0007g0011 a0002c0032t0006g0078 a0002c0014t0007g0011 a0002c0032t0006g0078	2	348	0.0058	445	c.336 others(460): Show c.336+662_336+663insCGCCCCTGCCCCTCCGTTACAGGACGGTGG CCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCG TTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGC TCCTGCCCCTCCGTTACAGGACGGTGGCCCCTCCTCCCCCTCCGTTACAG GACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTG CCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACG GTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCTTCCCCC TCCGTTACAGGACAGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAAGACGGTGGCCCTCTGCTCCCCCTCCGT TACAGGATGGTGGCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(438): Show CGGCCACCATCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCTTGTAAC GGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCC ACTGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGG GGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCG TCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCA GGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGGGGCCACCGTCCTG TAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCG GGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACG GAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGGGCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02572.hp1 others(4): Show HG02145.hp2 HG02258.hp2 HG02572.hp1 HG03041.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp2	a0002 a0014 a0015 a0002 a0014 a0015	a0002c0016 a0002c0046 a0014c0043 others(1): Show a0002c0016 a0002c0046 a0014c0043 a0015c0064	a0002c0016t0007 a0002c0046t0001 a0014c0043t0010 others(1): Show a0002c0016t0007 a0002c0046t0001 a0014c0043t0010 a0015c0064t0001	a0002c0016t0007g0309 a0002c0016t0007g0310 a0002c0016t0007g0311 others(4): Show a0002c0016t0007g0309 a0002c0016t0007g0310 a0002c0016t0007g0311 a0002c0016t0007g0314 a0002c0046t0001g0315 a0014c0043t0010g0091 a0015c0064t0001g0103	7	348	0.0201	445	c.336 others(460): Show c.336+662_336+663insCGCCCCTGCCCCTCCGTTACAGGACGGTGG CCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCG TTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGC TCCTGCCCCTCCGTTACAGGACGGTGGCCCCTCCTCCCCCTCCGTTACAG GACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTG CCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACG GTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCTTCCCCC TCCGTTACAGGACAGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAAGACGGTGGCCCTCTCCTCCCCCTCCGT TACAGGATGGTGGCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(438): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATTATATATACATTATATATATTATATATTATATATACATTATATATATT ATATATTATATATACATTATATATATTATATATTATATATACATTATATA TATTATATATTATATATACATTATATATATTATATATTATATATACATTA TATATATTATATATTATATATACATTATATATATTATATATTATATATAC ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATATTATATATT ATATATACATTATATATATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0093 a0001c0001t0010g0093	1	224	0.0045	445	c.102 others(464): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATATATAATGTATATATAATATATATAT ATATAATGTATATATAATATATATATATAATGTATATATAATATATATAT ATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGTCC others(438): Show CTGAGTCCCTTACCCTATCCTGAGCCCCCCTTTCTTGATCCCCTCCCCCA TCCTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCT GCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGA GCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCAT CCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCT CCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGA GCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCA CCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCT CCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01891.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01891.hp2 HG02486.hp1 HG02486.hp2 HG02896.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp2	a0003 a0009 a0003 a0009	a0003c0006 a0009c0014 a0003c0006 a0009c0014	a0003c0006t0009 a0003c0006t0028 a0003c0006t0029 others(2): Show a0003c0006t0009 a0003c0006t0028 a0003c0006t0029 a0003c0006t0030 a0009c0014t0045	a0003c0006t0009g0007 a0003c0006t0028g0022 a0003c0006t0029g0007 others(2): Show a0003c0006t0009g0007 a0003c0006t0028g0022 a0003c0006t0029g0007 a0003c0006t0030g0023 a0009c0014t0045g0021	9	270	0.0333	445	c.30 others(454): Show c.307_*308insTCCCTTACCCTATCCTGAGCCCCCCTTTCTTGATCC CCTCCCCCATCCTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCT TGAGCCCCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCC CTTTCTTGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCC CTCCCCCATCCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCT GAGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCC CTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGCCC CCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCT GAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCTCCCC TTTCTTGAG	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	308	INFO_REALIGN_3_PRIME	chr16	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(438): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	334	0.0030	445	c.657 others(460): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870706	C C	CCCCACAC others(438): Show CCCCACACACACCACACCCCCACACACACCACACACACCACACACCCCCC ACACACCACACCCCACACACACCACACACCCCACACACACATCACATACC CCACACACCACACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACACCACACACACCACACACCCCCACACACCCACACCCCACACACAC CACACACCCCACACACACATCACATACCCCACACACCACACACCCCACAC ACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACAAA CCACACACCCTACACACCCCACACACACCACACACACACATCACAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	338	0.0030	445	c.35 others(464): Show c.35+21973_*35+21974insCCCACACACACCACACCCCCACACAC ACCACACACACCACACACCCCCCACACACCACACCCCACACACACCACAC ACCCCACACACACATCACATACCCCACACACCACACACCCCACACACACC ACACACCCCCCACACACCACACACCCCACACACACCACACACCCCACACA CACCACACACCCCACACACACCACACACACCACACACACCACACACCCCC ACACACCCACACCCCACACACACCACACACCCCACACACACATCACATAC CCCACACACCACACACCCCACACACACCACACACCCCCCACACACCACAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACA CCACACACACACATCACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VCX2_chrX_8164944_8176267	8169895	C C	CCCCTCCC others(438): Show CCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	445	c.13 others(454): Show c.136_*137insAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		48		chrX	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(439): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATC AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATA AATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	306	0.0033	446	c.130 others(465): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(439): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATA TCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	306	0.0033	446	c.130 others(465): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAAT ATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTG ATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAAT ATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(439): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATA TCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0014 a0014	a0014c0041 a0014c0041	a0014c0041t0001 a0014c0041t0001	a0014c0041t0001g0191 a0014c0041t0001g0191	1	306	0.0033	446	c.130 others(465): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAAT ATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTG ATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAAT ATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(439): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAATGAG TGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGG ATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0038 a0038	a0038c0069 a0038c0069	a0038c0069t0001 a0038c0069t0001	a0038c0069t0001g0015 a0038c0069t0001g0015	1	357	0.0028	446	c.278 others(465): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCC ACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTT ATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCC ATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCTATCCCACC CACTCATTTATCCATCCCACCTCATTTATGCATCCCACCCACTCATTTAT GCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(439): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAATGAGTGGGTGG GATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTA AATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp2 HG03516.hp1 HG02451.hp1 HG03130.hp2 HG03516.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125 a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125	3	357	0.0084	446	c.278 others(465): Show c.2787+1072_2787+1073insCCATTTAGCCATCCCACCCACTCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAT CCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCAT CCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCA CCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTA TCCATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCTA TCCCACCCACTCATTTATCCATCCCACCTCATTTATGCATCCCACCCACT CATTTATGCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AAGAAGAG others(439): Show AAGAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	1	376	0.0027	446	c.-11 others(457): Show c.-1194_-1193insAGAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ACAP3_chr1_1287391_1312930	1288255	T T	TCCCGTGT others(439): Show TCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	295	0.0034	446	c.53 others(457): Show c.5308_*5309insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGG GGCAGGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4135		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289972	G G	GTCTCTGC others(439): Show GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCTCTGCTCTGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0110 a0001c0020t0002g0110	1	295	0.0034	446	c.35 others(457): Show c.3591_*3592insGACACGGGACGGAGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACAGAGCAGAGACACGGGACGGGGCAGGGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2418		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(439): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02293.hp1 NA18980.hp1 others(2): Show HG02273.hp1 HG02293.hp1 NA18980.hp1 NA19064.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	418	0.0120	446	c.-10 others(457): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATATTTATGATATATAAATATAAATTTTT ATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(439): Show AATATAAATATATAAACATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	418	0.0024	446	c.-10 others(457): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATATTTATGATATATAAATATAAATGTTT ATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(439): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGA GGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp2 NA18983.hp2 HG00408.hp2 HG02015.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0169 a0002c0001t0002g0058 a0002c0001t0002g0144 a0001c0002t0002g0169 a0002c0001t0002g0058 a0002c0001t0002g0144	3	228	0.0132	446	c.259 others(467): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCTCCT TTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATCC CATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCT CCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCC TTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100058248	T T	TATCCCGG others(439): Show TATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCTCCTATCCCGGC TCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACAC CCCTATCCCGGCTCTAACCGTCCTATCCCGGCTCTAACACCCCTATCCCG GCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCAGCTCTAACACCCCATATCCCGGCTCTAACCCTCCTATCC CGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTA ACACCCCTATCCTGGCTCTAACCCTCCTATCCCGGCTCTAACCGTCCTAT CCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTT AACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG01081.hp1 others(38): Show HG00140.hp1 HG00558.hp2 HG01081.hp1 HG01255.hp1 HG01261.hp1 HG01433.hp2 HG02027.hp2 HG02055.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp1 HG03516.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp2 HG06807.hp2 NA18943.hp2 NA18964.hp1 NA18988.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012	a0001c0002 a0001c0007 a0001c0014 others(24): Show a0001c0002 a0001c0007 a0001c0014 a0001c0018 a0001c0041 a0001c0072 a0002c0001 a0002c0004 a0002c0011 a0002c0022 a0002c0029 a0002c0051 a0002c0052 a0002c0070 a0003c0006 a0003c0009 a0003c0015 a0003c0048 a0004c0003 a0005c0024 a0005c0026 a0005c0035 a0005c0075 a0006c0016 a0006c0049 a0006c0059 a0012c0037	a0001c0002t0002 a0001c0002t0012 a0001c0002t0065 others(31): Show a0001c0002t0002 a0001c0002t0012 a0001c0002t0065 a0001c0007t0006 a0001c0007t0010 a0001c0014t0030 a0001c0018t0010 a0001c0018t0070 a0001c0041t0040 a0001c0072t0005 a0002c0001t0033 a0002c0001t0057 a0002c0004t0007 a0002c0011t0042 a0002c0011t0063 a0002c0022t0005 a0002c0029t0002 a0002c0051t0015 a0002c0052t0069 a0002c0070t0067 a0003c0006t0003 a0003c0009t0001 a0003c0015t0001 a0003c0048t0041 a0004c0003t0001 a0005c0024t0002 a0005c0026t0058 a0005c0035t0010 a0005c0075t0071 a0006c0016t0002 a0006c0016t0024 a0006c0049t0015 a0006c0059t0014 a0012c0037t0001	a0001c0002t0002g0063 a0001c0002t0012g0106 a0001c0002t0065g0071 others(38): Show a0001c0002t0002g0063 a0001c0002t0012g0106 a0001c0002t0065g0071 a0001c0007t0006g0062 a0001c0007t0006g0202 a0001c0007t0010g0011 a0001c0014t0030g0001 a0001c0018t0010g0006 a0001c0018t0010g0007 a0001c0018t0070g0119 a0001c0041t0040g0165 a0001c0072t0005g0182 a0002c0001t0033g0010 a0002c0001t0057g0146 a0002c0004t0007g0204 a0002c0011t0042g0111 a0002c0011t0063g0053 a0002c0022t0005g0097 a0002c0022t0005g0181 a0002c0029t0002g0067 a0002c0051t0015g0090 a0002c0052t0069g0076 a0002c0070t0067g0164 a0003c0006t0003g0014 a0003c0006t0003g0027 a0003c0009t0001g0064 a0003c0015t0001g0159 a0003c0048t0041g0168 a0004c0003t0001g0084 a0004c0003t0001g0093 a0004c0003t0001g0098 a0005c0024t0002g0135 a0005c0024t0002g0153 a0005c0026t0058g0109 a0005c0035t0010g0021 a0005c0075t0071g0187 a0006c0016t0002g0082 a0006c0016t0024g0200 a0006c0049t0015g0210 a0006c0059t0014g0016 a0012c0037t0001g0116	41	228	0.1798	446	c.213 others(465): Show c.2138-4195_2138-4194insGGTGTTAAGAGCCGGGATAGGAGGGT TAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGG GATAGGGGTGTTAGAGCCGGGATAGGACGGTTAGAGCCGGGATAGGAGGG TTAGAGCCAGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCG GGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATATGGG GTGTTAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAG CCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGG ACGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGA GCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATA GGGGGTGTTAGAGCCGGGAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83695234	G G	GGTATATG others(439): Show GGTATATGTGTGTGTATGTGTGGTGTGTGGTGTGTATGGATGGTGTGTGT GGGGTATGTTAGGTGTGTGTGTGTGTATGTAGTGTGTGGTATGTGGTGTG TGTGCATTGTATGTGTTAGGTGTGTAGTGTGTGGTGTGTGAGTACATTCA GTGTTTGGTGTATGTGTGGTATATTTGTGGTGTGTGTGTATATATAGTGC GTGGTGTGTGTGGGGGTATGTTTGTGGTGTGTGTGTATATGTGTAATGTG TGGTATGTGATTGTGTATGTGCATGTGTGTGTGGTATGTGGTGTATGTGT GTAGTGTGTTATATGTGTTTGTGTATGTGTGTTGTCTGTGTATGGTATGT TTGTGGTATGTATATGTGTAATGTGTGGTTATGTGTTTGTGTATGTGTGT GTATGTGGTATGTATTTTTTCTGTGTGTGTGGTATGCGTGCAGTGTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04204.hp1 HG03704.hp1 HG04204.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0103 a0006c0006t0001g0100 a0001c0001t0001g0103 a0006c0006t0001g0100	2	274	0.0073	446	c.70- others(461): Show c.70-9155_70-9154insGTATATGTGTGTGTATGTGTGGTGTGTGGT GTGTATGGATGGTGTGTGTGGGGTATGTTAGGTGTGTGTGTGTGTATGTA GTGTGTGGTATGTGGTGTGTGTGCATTGTATGTGTTAGGTGTGTAGTGTG TGGTGTGTGAGTACATTCAGTGTTTGGTGTATGTGTGGTATATTTGTGGT GTGTGTGTATATATAGTGCGTGGTGTGTGTGGGGGTATGTTTGTGGTGTG TGTGTATATGTGTAATGTGTGGTATGTGATTGTGTATGTGCATGTGTGTG TGGTATGTGGTGTATGTGTGTAGTGTGTTATATGTGTTTGTGTATGTGTG TTGTCTGTGTATGGTATGTTTGTGGTATGTATATGTGTAATGTGTGGTTA TGTGTTTGTGTATGTGTGTGTATGTGGTATGTATTTTTTCTGTGTGTGTG GTATGCGTGCAGTGTC	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29			chr15	TogoVar
ADAP1_chr7_892900_959680	906063	G G	GGGAAAGG others(439): Show GGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGG AGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAGA AAGGGAAAGGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAG GGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAG AAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAA GGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGG GAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGGGAAAGGAGAAAGGAGAA AGGGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAGGGAGAAGGGAGAAGGG AGAAAGGAGAAAGGAGAAAGGTGAAAGGAGAAAGGAGAAAGGAGAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	14	0.0714	446	c.389 others(461): Show c.389-892_389-891insTTTCTCCTTTCTCCTTTCTCCTTTCACCTT TCTCCTTTCTCCTTTCTCCCTTCTCCCTTCTCCCTTCTCCTTTCTCCTTT CCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCCTTTCCCTTTCTCC TTTCCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTTTC TCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTCC TTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCT TTCTCCTTTCCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCT CCTTTCCCCTTTCCCTTTCTCCTTTCCCTTTCTCCTTTCCCTTTCTCCTT TCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CTCCTTTCTCCTTTCC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADGRL3_chr4_61195326_62083335	61847854	T T	TTATATAT others(439): Show TTATATATAATATAAAATATATTATATATAATATAAAATATATTATATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATATAATA TAAAATATATTATATATATAATATAAAATATATTATATATATAATATAAA ATATATTATATATAATATAAAATATATTATATATAATATAAAATATATTA TATATAATATAAAATATATTATACATATAATATAAAATATATTATACATA TAATATAAAATATATTATACATATAATATAAAATATATTATATATATAAT ATAAAATATATTATATATATAATATAAAATATATTATATATATAATATAA AATATATTATATATAATATAAAATATATTATATATAATATAAAATATATT ATACATATAATATAAAATATATTATACATATAATATAAAATATATTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0025 a0001c0001t0009g0025	1	58	0.0172	446	c.148 others(467): Show c.1480+34128_1480+34129insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATACATATAATATAAAAT ATATTATACATATAATATAAAATATATTATACATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATATAATATAAAATATATTATA TATATAATATAAAATATATTATATATAATATAAAATATATTATATATAAT ATAAAATATATTATACATATAATATAAAATATATTATACATATAATATAA AATATATTATATATATAATATAAAATATATTATATATAATATAAAATATA TTATATATAATATAAAATATATTATATATATAATATAAAATATATTATAT ATATAATATAAAATATATTATATATATAATATAAAATATATTATATATAT AATATAAAATATATTATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(439): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACACGTATATACGTATACGTGTACACACACATACACGTATA TACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATACA CGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0067 a0001c0001t0060g0067	1	169	0.0059	446	c.48- others(463): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTCTACGTGTACACACATATACACGTCT ACGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTAC GTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15529659	T T	TATATATA others(439): Show TATATATATAGAATATATATTCTATATATATATAGAATATATATTCTATA TATATAGAATATATATACTATATATATTCTATATATAGAATATATATAGA ATATATATTCTATATATATATAGAATATATATACTATATATATTGTATAT ATATTCTATATATACAATATATATAGTATATATATTGTATATATAGAATA TATATAGAATATATATAGTATATATATTCTATATATAGAATATATATAGT ATATATATTCTATATATAGAATATATATAGAATATATATACTATATATAT TCTATATATAGTATATATATACTATATATAGAATATATATACTATATATA TTCTATATATATTCTATATATACAATATATATACTATATATATTCTATAT ATATTCTATATATACAATATATATACTATATATATTCTATATATAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp2 NA20129.hp2 HG03486.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201	3	236	0.0127	446	c.409 others(465): Show c.409+15112_409+15113insTCTATATATAGAATATATATAGTATA TATATTGTATATATAGAATATATATAGAATATATATAGTATATATATTGT ATATATAGAATATATATAGAATATATATAGTATATATATTCTATATATAG TATATATATACTATATATAGAATATATATAGTATATATATTCTATATATA TTCTATATATAGAATATATATACTATATATATTCTATATATAGAATATAT ATACTATATATATTCTATATATATTCTATATATACAATATATATACTATA TATATTGTATATATAGAATATATATACAATATATATAGTATATATATTCT ATATATATATAGAATATATATTCTATATATATTCTATATATAGAATATAT ATAGTATATATATTCTATATATATAGAATATATATTCTATATATATATAG AATATATATTCTATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(439): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACA CATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGC ATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGTAT GTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACA CATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGC ATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG03139.hp1 HG02145.hp2 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0029 a0001c0001t0017 a0001c0001t0029	a0001c0001t0017g0059 a0001c0001t0017g0061 a0001c0001t0029g0319 a0001c0001t0017g0059 a0001c0001t0017g0061 a0001c0001t0029g0319	3	352	0.0085	446	c.723 others(463): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACGGTATGTGTAGAGTATGCATACATACATACG GTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATA CATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAG AGTATGCATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANKRD29_chr18_23593926_23667911	23616126	A A	ATGTATGT others(439): Show ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGTATACTCTACACATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp2 HG01496.hp2 others(10): Show HG00738.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02148.hp2 NA18951.hp1 NA18954.hp1 NA18979.hp2 NA19012.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0005 a0001c0001t0003g0068 a0001c0001t0003g0071 others(9): Show a0001c0001t0003g0005 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0249 a0001c0001t0007g0242 a0001c0001t0007g0254	13	352	0.0369	446	c.723 others(463): Show c.723+1605_723+1606insGTATGTGTAGAGTATACATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGGTG others(439): Show GGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTG GGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTG GGGGCTTCCGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCT GCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGGT GTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTC CCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTAT CTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGC TTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0142 a0006c0019t0001g0142	1	286	0.0035	446	c.539 others(461): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAG ATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGG ACGCCCCCACACCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(439): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	286	0.0035	446	c.539 others(461): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCC GCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCCGCGGACGCC CCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACC CGCGGACGCCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
APBA2_chr15_28880974_29123315	29063391	C C	CGGGGAGT others(439): Show CGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATC TGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGGTCAGTGTCT GTATGGGTTGGGAGGGAAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGA GGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGATGCGGGGAGTTGATCT GGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGT ATGGGTGGGGAGGGGAGTTGATCTGGGTCAGTGTCTGTATGGGTTGGGAG GGAAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTG GTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTA TGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0015 a0002c0003t0013 a0002c0003t0038 a0002c0002t0015 a0002c0003t0013 a0002c0003t0038	a0002c0002t0015g0091 a0002c0003t0013g0081 a0002c0003t0038g0107 a0002c0002t0015g0091 a0002c0003t0013g0081 a0002c0003t0038g0107	3	204	0.0147	446	c.951 others(463): Show c.951+8702_951+8703insGGAGGGGAGTTGATCTGGTCAGTGTCTG TATGGGTGATGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCG GGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTG GGTCAGTGTCTGTATGGGTTGGGAGGGAAGTTGATCTGGTCAGTGTCTGT ATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGG GGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGG TCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTAT GGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGG AGTTGATCTGGGTCAGTGTCTGTATGGGTTGGGAGGGAAGTTGATCTGGT CAGTGTCTGTATGGGTGG	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(439): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATGTATGATATATAAATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATATTTGT ATGATATATAAATATATATATATTTGTATGATATATAAATATATATATTT GTATGATATATAAATATATATATTTGTATGATATACAAATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	410	0.0024	446	c.671 others(463): Show c.671-1369_671-1368insAATATATATTTGTATATCATACAAATAT ATATATTTATATATCATACAAATATATATATTTATATATCATACAAATAT ATATATATTTATATATCATACAAATATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATTTATATATCATACATATAT ATTTATATGTCATACAAATATATATATTTATATGTCATACAAATATATAT ATTTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(439): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATGTATGATATATAAATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATATTTGTATGATATATAAATATATATATATTT GTATGATATATAAATATATATATTTGTATGATATACAAATATATATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00673.hp1 others(24): Show HG00423.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp1 HG01952.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02145.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02735.hp2 HG03540.hp2 NA18944.hp1 NA18945.hp2 NA18979.hp2 NA18992.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19060.hp2 NA19085.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0012 a0001c0002 a0005c0012	a0001c0002t0001 a0001c0002t0017 a0005c0012t0001 a0001c0002t0001 a0001c0002t0017 a0005c0012t0001	a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0247 others(22): Show a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0308 a0001c0002t0001g0345 a0001c0002t0001g0372 a0001c0002t0001g0373 a0001c0002t0001g0374 a0001c0002t0017g0282 a0005c0012t0001g0361	27	410	0.0659	446	c.671 others(463): Show c.671-1369_671-1368insAATATATATTTGTATATCATACAAATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATTTATATATCATACATATAT ATTTATATGTCATACAAATATATATATTTATATGTCATACAAATATATAT ATTTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(439): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	446	c.36 others(457): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCAC CCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
B4GALNT3_chr12_454939_568509	511884	T T	TCCACCTT others(439): Show TCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCAC CTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACC TTCCACCTTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCA CCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTC CACCTTCCACCTTCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCC TTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCC ACCTTCCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTT CCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCC ACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp2 NA19058.hp2 HG00673.hp2 HG02027.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0045 a0001c0001t0008 a0001c0001t0025 a0001c0001t0045	a0001c0001t0008g0011 a0001c0001t0025g0023 a0001c0001t0045g0359 a0001c0001t0008g0011 a0001c0001t0025g0023 a0001c0001t0045g0359	3	394	0.0076	446	c.170 others(465): Show c.170-23281_170-23280insCACCTTCCACCTTCCACCTTCCACCT TCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTT CCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCCTTCCACCTTCGACC TTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTT CCACCTTCCGCCTTCTGCCTTCCACCTTCCACCTTCCTTCCACCTTCCAC CTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACC TTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCAC CTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCT TCTTCCACCTTCCACCTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar

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