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
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	221	c.54 others(232): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	221	c.54 others(232): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	221	c.54 others(232): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	221	c.54 others(232): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	418	0.0024	221	c.54 others(232): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(214): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGGGAAGGGGAGGGGAGGGGGAGGGGA GGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	260	0.0039	221	c.138 others(240): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCCCCTCCCCTCCCCTTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167205309	A A	ATATATTA others(214): Show ATATATTATAGATATTTTATATCTATAATATATATTATATATTATAGATA TTTTATATCTATAATATATATTATATAATTATAGATATTTTATATCTATA ATATATATTATATATTATAGATATTTTATATCTATAATATATAATATATA TTATAGATATTTTATATCTATAATATATATTATATATTATATATATTTTA TATCTATAATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0008 a0001c0004t0003g0008	1	144	0.0069	221	c.189 others(240): Show c.189+28675_189+28676insATATAAATATATATTATAGATATAAA ATATATATAATATATAATATATATTATAGATATAAAATATCTATAATATA TATTATATATTATAGATATAAAATATCTATAATATATAATATATATTATA GATATAAAATATCTATAATTATATAATATATATTATAGATATAAAATATC TATAATATATAATATATATTATAGATATAAAATATCTATAATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2349021	C C	CTCTCTCC others(214): Show CTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTC TCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCCAC ACACACTCACGCGCTCTCATTCGCCTGATTCCGTTCTCTCTCCACACACA CGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCTCCACACACTCACGC ACTCTTATTCGCCTGATTCCGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp2 HG03130.hp2 others(2): Show HG02280.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp2 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0033 a0002c0005t0007g0158 a0002c0005t0007g0159 others(1): Show a0002c0005t0007g0033 a0002c0005t0007g0158 a0002c0005t0007g0159 a0002c0005t0007g0160	5	414	0.0121	221	c.135 others(240): Show c.1355-2407_1355-2406insCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGA TTCCGTTCTCTCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCCG TTCTCTCTCCACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCTC TCTCCACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(214): Show ATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAA AATTATTTTAAAATATAATTATTAAAATATTTAAAATTATTTTAAATATT TAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAATTA TAAATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATT TAAAATTATTTTAAAATATAAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp2 HG02129.hp2 others(2): Show HG00597.hp2 HG02027.hp2 HG02129.hp2 NA19000.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0324 a0002c0002t0001g0335 others(2): Show a0002c0002t0001g0091 a0002c0002t0001g0324 a0002c0002t0001g0335 a0002c0002t0001g0338 a0002c0002t0001g0346	5	358	0.0140	221	c.649 others(238): Show c.649-1195_649-1194insATTATATTTTAAAATAATTTTAAATATT TTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTATAATTT AAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTAAATATT TAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTAAAT ATTTTAATATTTATAATTTAAAATAATTTTAAATATTTTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587038	T T	TATTTTAA others(214): Show TATTTTAAAATATAATTATTAAAATATTTAAAATTATTTTAAATATTTAT TTTAAATTATAAATATTAAAATATTTAAAAATTTTTAAATATTTATTTTA AAATATAATTATTAAAATATTTAAAATTATTTTAAATATTTATTTTAAAT TATAAATATTAAAATATTTAAAAATTTTTAAATATTTATTTTAAAATATA ATTATTAAAATATTTAAAATTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0094 a0009c0021t0001g0094	1	358	0.0028	221	c.649 others(238): Show c.649-1265_649-1264insTAATTTTAAATATTTTAATAATTATATT TTAAAATAAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAA AATAAATATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAAT AAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAAAATAAAT ATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(214): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTCGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGG TGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	422	0.0024	221	c.64 others(232): Show c.6442_*6443insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCGAGGCAACTCCACCCCCGCTGGGCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(214): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG GCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03831.hp2 NA18980.hp2 others(1): Show HG03710.hp2 HG03831.hp2 NA18980.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0002 a0001c0002t0004g0007 a0001c0001t0001g0002 a0001c0002t0004g0007	4	422	0.0095	221	c.63 others(232): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
STON1_chr2_48525154_48603513	48564480	T T	TTCTTCTT others(214): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	376	0.0027	221	c.-47 others(240): Show c.-47-16106_-47-16105insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUCO_chr1_172528150_172616833	172571926	A A	AGGTGGGG others(214): Show AGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCCTCTGGGAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 NA19240.hp1 HG01891.hp2 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0106 a0001c0001t0002g0024 a0001c0001t0002g0106	3	340	0.0088	221	c.104 others(240): Show c.1049+1196_1049+1197insGGTGGGGGTCAGCCCCCGCCAGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGGGAAGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637648	T T	TGATTATA others(214): Show TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0220 a0001c0003t0003g0220	1	268	0.0037	221	c.74 others(232): Show c.7493_*7494insGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4114		chr10	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(214): Show TATGTGTATATACATATATACATATACACATATGTGTATATATACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATAACACATATATACACCTATGTGT ATATATAACACATATATACACCTATGTGTATATATACATATATACATATA CACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	376	0.0027	221	c.158 others(240): Show c.1582-2863_1582-2862insGTGTATATACATATATACATATACAC ATATGTGTATATATACATATATACACCTATGTGTATATATAACACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATAACACATATATACACCTATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TAF4_chr20_61969798_62070881	62057634	C C	CCTACACA others(214): Show CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGG GGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTC TACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGAC CTCAGGAAGGACGGACACAGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00597.hp1 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0001g0230 a0001c0002t0001g0239	2	314	0.0064	221	c.136 others(240): Show c.1360+6816_1360+6817insACCTGTGTCCGTCCTTCCTGAGGTCT TGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACC TGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCAT TGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGC TGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCCGCC others(214): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATC CCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCC GCCCTCACCCGCCCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCCGCCC TCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTC ACCCGCCCCCGCCCTCACCCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	416	0.0024	221	c.462 others(234): Show c.462-94_462-93insGCCCCCGCCCTCACCCGCCCCCGCCCTCACCC ATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCC CCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCCG CCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCC CTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(214): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGG GAAGGAGGGGGAAAGAGGGTGAAAAGGGAGGGGAGGGGAGGAGGGAGGGG AGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGG AGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0167 a0005c0005t0001g0167	1	274	0.0037	221	c.424 others(238): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCTTTTCACCCTCTTTCCCCCTCCTTCCCCTCC CCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCC TCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(214): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGG GAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGG AGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGG AGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(111): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18971.hp2 NA18983.hp1 NA18988.hp1 NA18994.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0016 a0017 a0018 a0019 a0020 a0024 a0026 a0031 a0032 a0034 a0035 a0038	a0001c0001 a0001c0006 a0001c0010 others(41): Show a0001c0001 a0001c0006 a0001c0010 a0001c0016 a0001c0031 a0001c0033 a0001c0049 a0001c0056 a0001c0064 a0001c0070 a0002c0002 a0002c0009 a0002c0052 a0002c0077 a0003c0012 a0003c0037 a0003c0088 a0004c0020 a0004c0094 a0004c0103 a0005c0005 a0005c0084 a0006c0013 a0007c0018 a0007c0086 a0008c0024 a0009c0099 a0009c0106 a0010c0091 a0011c0022 a0011c0043 a0013c0076 a0016c0035 a0017c0101 a0018c0066 a0019c0075 a0020c0057 a0024c0083 a0026c0048 a0031c0085 a0032c0068 a0034c0041 a0035c0095 a0038c0063	a0001c0001t0001 a0001c0001t0005 a0001c0006t0003 others(44): Show a0001c0001t0001 a0001c0001t0005 a0001c0006t0003 a0001c0010t0001 a0001c0016t0001 a0001c0031t0001 a0001c0033t0001 a0001c0033t0003 a0001c0049t0001 a0001c0056t0003 a0001c0064t0001 a0001c0070t0001 a0002c0002t0001 a0002c0009t0001 a0002c0009t0003 a0002c0052t0003 a0002c0077t0003 a0003c0012t0001 a0003c0037t0001 a0003c0088t0001 a0004c0020t0001 a0004c0094t0001 a0004c0103t0001 a0005c0005t0001 a0005c0084t0001 a0006c0013t0002 a0007c0018t0001 a0007c0086t0001 a0008c0024t0001 a0009c0099t0001 a0009c0106t0001 a0010c0091t0001 a0011c0022t0002 a0011c0043t0002 a0013c0076t0001 a0016c0035t0003 a0017c0101t0001 a0018c0066t0001 a0019c0075t0007 a0020c0057t0001 a0024c0083t0004 a0026c0048t0001 a0031c0085t0001 a0032c0068t0001 a0034c0041t0002 a0035c0095t0001 a0038c0063t0001	a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0051 others(109): Show a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0006t0003g0001 a0001c0006t0003g0005 a0001c0006t0003g0011 a0001c0006t0003g0012 a0001c0006t0003g0014 a0001c0006t0003g0018 a0001c0010t0001g0034 a0001c0010t0001g0089 a0001c0010t0001g0099 a0001c0010t0001g0102 a0001c0016t0001g0039 a0001c0016t0001g0045 a0001c0016t0001g0069 a0001c0016t0001g0076 a0001c0016t0001g0097 a0001c0031t0001g0059 a0001c0031t0001g0132 a0001c0033t0001g0135 a0001c0033t0003g0004 a0001c0049t0001g0033 a0001c0056t0003g0020 a0001c0064t0001g0151 a0001c0070t0001g0035 a0002c0002t0001g0046 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0141 a0002c0009t0001g0100 a0002c0009t0001g0104 a0002c0009t0001g0136 a0002c0009t0001g0137 a0002c0009t0003g0022 a0002c0052t0003g0009 a0002c0077t0003g0025 a0003c0012t0001g0208 a0003c0012t0001g0209 a0003c0012t0001g0228 a0003c0012t0001g0229 a0003c0037t0001g0189 a0003c0088t0001g0207 a0004c0020t0001g0003 a0004c0020t0001g0227 a0004c0094t0001g0162 a0004c0103t0001g0230 a0005c0005t0001g0170 a0005c0005t0001g0174 a0005c0005t0001g0175 a0005c0005t0001g0178 a0005c0005t0001g0179 a0005c0005t0001g0196 a0005c0005t0001g0201 a0005c0005t0001g0219 a0005c0005t0001g0226 a0005c0084t0001g0169 a0006c0013t0002g0253 a0006c0013t0002g0254 a0006c0013t0002g0256 a0006c0013t0002g0270 a0007c0018t0001g0168 a0007c0018t0001g0206 a0007c0018t0001g0222 a0007c0086t0001g0159 a0008c0024t0001g0112 a0008c0024t0001g0144 a0008c0024t0001g0145 a0009c0099t0001g0194 a0009c0106t0001g0235 a0010c0091t0001g0225 a0011c0022t0002g0249 a0011c0022t0002g0250 a0011c0022t0002g0251 a0011c0043t0002g0268 a0013c0076t0001g0065 a0016c0035t0003g0024 a0017c0101t0001g0176 a0018c0066t0001g0113 a0019c0075t0007g0096 a0020c0057t0001g0105 a0024c0083t0004g0243 a0026c0048t0001g0030 a0031c0085t0001g0157 a0032c0068t0001g0140 a0034c0041t0002g0265 a0035c0095t0001g0198 a0038c0063t0001g0150	114	274	0.4161	221	c.424 others(238): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCC CCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCC TCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(214): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGG AGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGG GAAGGAGGGGGAAAGAGTGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGG AGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGG AGGAGGTGGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG00642.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0071 a0002c0002t0001g0038 a0002c0002t0001g0071	2	274	0.0073	221	c.424 others(238): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCCT CTTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTC CCTCCTCCCCTCCCCTCCCTCTTCACACTCTTTCCCCCTCCTTCCCCTCC CCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCC TCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBC1D2B_chr15_77989985_78082711	77992794	C C	CCCACTCC others(214): Show CCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCCACTCCCC CCCACTCCCCCCCCCACTCCCCACTCCCCCCCACTCCCCCCACTCCCCCC CCACTCCACTCCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCC CCCCCCACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCC ACTCCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0168 a0001c0001t0010g0168	1	280	0.0036	221	c.53 others(232): Show c.5365_*5366insAGTGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGG GGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGGAGTGGGGGG GAGTGGAGTGGGGGGGGAGTGGGGGGGGAGTGGAGTGGGGGGGGAGTGGG GGGAGTGGGGGGGAGTGGGGAGTGGGGGGGGGAGTGGGGGGGAGTGGGGG GGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2190		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992796	C C	CACTCCCC others(214): Show CACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCC CACTCCACTCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCC CACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCC CCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCCCCCC ACTCCCCCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	280	0.0036	221	c.53 others(232): Show c.5363_*5364insAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGG GGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGT GGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGA GTGGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGAGTGGGGGGGGAGTGG GGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2188		chr15	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CCACACAT others(214): Show CCACACATCAGACCCCTGTGACCGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0047	1	392	0.0026	221	c.228 others(240): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGGTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(214): Show CCGATCACCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCA CAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCT GTGACCGATCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	392	0.0026	221	c.228 others(240): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGTGATCGGTCACAGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGA TGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TIMM22_chr17_992129_1008671	993519	C C	CCCTCACG others(214): Show CCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACC CTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACAT AATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCA CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACA TAATCCACCCTCACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	439	0.0023	221	c.-36 others(232): Show c.-3624_-3623insCCTCACGTAATCCACCCTCACGTAATCCACCTCA CATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACAT AATCCACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCA CCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCTCACA TAATCCACCCTCACATAATCCACCCTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3609		chr17	TogoVar
TMC7_chr16_18978934_19068942	18986858	G G	GCAGTGGC others(214): Show GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGCCA CCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCG TCTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTGG GCCTCCCAAAGTGCTGGGATTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	282	0.0036	221	c.67+ others(236): Show c.67+2732_67+2952dupTGGCGCGATCTCGGCTCACTGCAAGCTCCG TCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCATCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGTCTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMCO3_chr13_113486021_113555229	113512080	T T	TGGAGTCT others(214): Show TGGAGTCTCAGGGGCCGGGACTGGAGAGGGAGAGGGTTGGTGTGTAGATG GAGAGGGTCAGTATATATACACTCGGAGTCGCGGGGGCCGGGACTGGAGA GGCAGAGGGCCGGAGTGTAGATGGAGAGGGTCAGTATATATACACTCGGA GTCGCGGGGGCCGGGACTGGAGAGGGAGAGGGTTGGAGTGTAGATGGAGA GGGTCAGTATATATATACACTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	368	0.0027	221	c.122 others(240): Show c.1225+1724_1225+1944dupACACTCGGAGTCGCGGGGGCCGGGAC TGGAGAGGCAGAGGGCCGGAGTGTAGATGGAGAGGGTCAGTATATATACA CTCGGAGTCGCGGGGGCCGGGACTGGAGAGGGAGAGGGTTGGAGTGTAGA TGGAGAGGGTCAGTATATATATACACTCGGAGTCTCAGGGGCCGGGACTG GAGAGGGAGAGGGTTGGTGTGTAGATGGAGAGGGTCAGTATATAT	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120A_chr7_75981831_75999595	75988980	G G	GGGGTGGA others(214): Show GGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGGG GGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGGAAGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03834.hp2 HG03017.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0253 a0001c0001t0001g0210 a0001c0001t0001g0253	2	368	0.0054	221	c.377 others(236): Show c.377+184_377+185insACCCGGCCTTCCCCTCCACACCCCCTCCCC GCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCC GCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCG GCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCC GCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMPRSS9_chr19_2355265_2431261	2418817	T T	TCCTTCCC others(214): Show TCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTCCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCT CCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTT CCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTTTCCTTCCCTC CCTCCCTCCCTTTCCTTCCCTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18970.hp2 HG02071.hp2 NA18970.hp2	a0005 a0005	a0005c0010 a0005c0028 a0005c0010 a0005c0028	a0005c0010t0002 a0005c0028t0002 a0005c0010t0002 a0005c0028t0002	a0005c0010t0002g0083 a0005c0028t0002g0080 a0005c0010t0002g0083 a0005c0028t0002g0080	2	114	0.0175	221	c.215 others(238): Show c.2154+693_2154+694insCTCCCTTTCCTTCCCTCTCCTCCCTCCC TTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTC CTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCC TCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTTTCC TTCCCTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMTC2_chr12_82681906_83139866	82876075	A A	ATTAGTAT others(214): Show ATTAGTATTCATAATTGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGG TGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTG GTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGAT TAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTG GTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0095 a0001c0001t0028g0095	1	96	0.0104	221	c.654 others(240): Show c.654+18496_654+18497insTAGTATTCATAATTGTGGTGGTGGTG GTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGT AATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGT GGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNR_chr1_175310194_175748595	175650717	C C	CCACCTCA others(214): Show CCACCTCACTACTAATCCCTCCTCCCCCACCTCATTATTACCCTTCTCAA CCTCATTATTACCCTTCCCCAGATCATTACTACCCCACCCCACCCCACCT CACTAATAACCCCTCTCCCACCTGATTACTAGCCCTCCCATACCTCATTG CTCCTCCTCCCCACCTCATAACTCGTCCTCCCCACCTCCCCCACATCATT ACTGCCCCTCCTCGCTTCATTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01978.hp2 HG03471.hp2 others(2): Show HG01099.hp2 HG01978.hp2 HG03471.hp2 NA18949.hp2 NA18983.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0009 a0002c0006 a0002c0007 others(2): Show a0001c0009 a0002c0006 a0002c0007 a0006c0015 a0013c0034	a0001c0009t0018 a0002c0006t0058 a0002c0007t0066 others(2): Show a0001c0009t0018 a0002c0006t0058 a0002c0007t0066 a0006c0015t0009 a0013c0034t0038	a0001c0009t0018g0111 a0002c0006t0058g0079 a0002c0007t0066g0120 others(2): Show a0001c0009t0018g0111 a0002c0006t0058g0079 a0002c0007t0066g0120 a0006c0015t0009g0099 a0013c0034t0038g0075	5	132	0.0379	221	c.-16 others(242): Show c.-165+92508_-165+92509insTAATGAAGCGAGGAGGGGCAGTAA TGATGTGGGGGAGGTGGGGAGGACGAGTTATGAGGTGGGGAGGAGGAGCA ATGAGGTATGGGAGGGCTAGTAATCAGGTGGGAGAGGGGTTATTAGTGAG GTGGGGTGGGGTGGGGTAGTAATGATCTGGGGAAGGGTAATAATGAGGTT GAGAAGGGTAATAATGAGGTGGGGGAGGAGGGATTAGTAGTGAGGTG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TPO_chr2_1408463_1548673	1422316	A A	AGACCTCG others(214): Show AGACCTCGTGCAGGCGCCTCTCCTGGACCGACATTGTGCAGACGCCGCGC TGGACAGACCTAGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCC TCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCA GGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCT CGTGCAGGCGCCGCGCTGGACC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0005 a0003c0018t0002g0005	1	130	0.0077	221	c.95- others(234): Show c.95-698_95-697insATTGTGCAGACGCCGCGCTGGACAGACCTAGT GCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGAC CTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGG ACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGC GCTGGACCGACCTCGTGCAGGCGCCTCTCCTGGACCGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1422344	C C	CGACATTG others(214): Show CGACATTGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCC TGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGACCTCGTGCAGCCGCC TCTCCTGGACAGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCA GGCGCCGCGCTGGACCGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTC GTGCAGGCGCCTCTCCTGGACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0121 a0002c0002t0007g0121	1	130	0.0077	221	c.95- others(234): Show c.95-698_95-697insATTGTGCAGACGCCGCGCTGGACAGACCTCGT GCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGAC CTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGCCGCCTCTCCTGG ACAGACCTCGTGCAGGCGCCGCGCTGGACCGACCTCGTGCAGGCGCCTCT CCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537060	C C	CCGCCCCA others(214): Show CCGCCCCAATCTGTGCAACCTCCCACTCTACCCCCCACTGTGTGCAACCC CCCAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTGTGTGAA ACCTCCCCAAATCCCCCCCACTGTGTGCAACCTCCTCAAATCCCCCCACT GTGTGCAACCACCCCAAACCCCCCACAGTTTGAAACCTCCCCAAATCCCT GCCACTGTGTGCAACTTCAATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01978.hp2 others(7): Show HG00597.hp2 HG01081.hp1 HG01978.hp2 HG02040.hp1 HG03239.hp1 NA18962.hp1 NA18971.hp1 NA19058.hp1 NA19240.hp1 NA20752.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0007 a0016	a0002c0002 a0003c0003 a0004c0007 others(4): Show a0002c0002 a0003c0003 a0004c0007 a0004c0032 a0006c0021 a0007c0013 a0016c0030	a0002c0002t0009 a0002c0002t0014 a0003c0003t0005 others(6): Show a0002c0002t0009 a0002c0002t0014 a0003c0003t0005 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0021t0004 a0007c0013t0012 a0016c0030t0004	a0002c0002t0009g0062 a0002c0002t0014g0008 a0003c0003t0005g0066 others(7): Show a0002c0002t0009g0062 a0002c0002t0014g0008 a0003c0003t0005g0066 a0004c0007t0004g0072 a0004c0007t0004g0109 a0004c0007t0008g0049 a0004c0032t0008g0108 a0006c0021t0004g0031 a0007c0013t0012g0067 a0016c0030t0004g0115	10	130	0.0769	221	c.261 others(240): Show c.2619-3533_2619-3532insGCCCCAATCTGTGCAACCTCCCACTC TACCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGCATCCT CCTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCCACTGTGTGC AACCTCCTCAAATCCCCCCACTGTGTGCAACCACCCCAAACCCCCCACAG TTTGAAACCTCCCCAAATCCCTGCCACTGTGTGCAACTTCAATTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537060	C C	CCGCCCCA others(214): Show CCGCCCCAATCTGTGCAACCTCCCACTCTACCCCCCACTGTGTGCAACCC CCCAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTGTGTGAA ACCTCCCCAAATCCCCCCCACTGTGTGCAACCTCCTCAAATCCCCCCACT GTGTGCAACCATCCCAAACCCCCCACAGTTTGAAACCTCCCCAAATCCCT GCCACTGTGTGCAACTTCAATT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0116 a0004c0007t0004g0116	1	130	0.0077	221	c.261 others(240): Show c.2619-3533_2619-3532insGCCCCAATCTGTGCAACCTCCCACTC TACCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGCATCCT CCTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCCACTGTGTGC AACCTCCTCAAATCCCCCCACTGTGTGCAACCATCCCAAACCCCCCACAG TTTGAAACCTCCCCAAATCCCTGCCACTGTGTGCAACTTCAATTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF2_chr9_136881516_136931607	136897801	T T	TCCGCTCT others(214): Show TCCGCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTAAAGGGAGTGCACT AGCCAGCTCCAGGTGTGCTACGTTCCGCTCTCGGGGCTGGAGGGGAACCC GTGGTAGCTAAAGGGAGTGCACTAGCCAGCTCCAGGTGTGCTACATTCCC GCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTAAAGGGAGTGCACTAGC CAGCTCCAGGTGTGCTACATTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0299 a0001c0001t0010g0299	1	310	0.0032	221	c.-28 others(236): Show c.-28-876_-28-875insAAGGGAGTGCACTAGCCAGCTCCAGGTGTG CTACGTTCCGCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTAAAGGGAG TGCACTAGCCAGCTCCAGGTGTGCTACATTCCCGCTCTCGGGGCTGGAGG GGAACCCGTGGTAGCTAAAGGGAGTGCACTAGCCAGCTCCAGGTGTGCTA CATTCCCGCTCTCGGGGCTGGAGGGGAACCCGTGGTAGCTA	TRAF2	ENSG00000127191.18	transcript	ENST00000247668.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
TRIM50_chr7_73307536_73333082	73327288	C C	CTAACAAG others(214): Show CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20805.hp1 HG00733.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	346	0.0058	221	c.-19 others(236): Show c.-19+611_-19+612insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA	TRIM50	ENSG00000146755.11	transcript	ENST00000333149.7	protein_coding	1/6			chr7	TogoVar
TWIST2_chr2_238843085_238915534	238870783	A A	ACACACAC others(214): Show ACACACACCACACACACCCCACACACACCACACACACACATCACATACCA CACACCCGACACACGCCACACACACACCATACACCCCCCACACACCACAC CCCACACACCATACACACCACACACCCCACACACACCACACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG03471.hp2 HG02965.hp2 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0001g0238 a0001c0001t0002g0237 a0001c0001t0001g0097 a0001c0001t0001g0238 a0001c0001t0002g0237	3	338	0.0089	221	c.35 others(240): Show c.35+22056_*35+22057insCCACACACACCCCACACACACCACAC ACACACATCACATACCACACACCCGACACACGCCACACACACACCATACA CCCCCCACACACCACACCCCACACACCATACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917306	G G	GTTCGGCT others(214): Show GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0264 a0001c0020t0003g0264	1	344	0.0029	221	c.218 others(238): Show c.2183-105_2183-104insTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ULK1_chr12_131889622_131928150	131917306	G G	GTTCGGCT others(214): Show GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT CAGAGGCTGTGGGACGGGGGTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0079 a0001c0019t0001g0079	1	344	0.0029	221	c.218 others(238): Show c.2183-105_2183-104insTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCAGAGGCTGTGGGACGGGGGTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
VCX2_chrX_8164944_8176267	8169306	C C	CCCTCCCT others(214): Show CCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCT CCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCTCCCCACACACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0023 a0023	a0023c0025 a0023c0025	a0023c0025t0015 a0023c0025t0015	a0023c0025t0015g0044 a0023c0025t0015g0044	1	115	0.0087	221	c.72 others(230): Show c.725_*726insAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		637		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466813	G G	GGGGAGGG others(214): Show GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0027 a0027	a0027c0024 a0027c0024	a0027c0024t0002 a0027c0024t0002	a0027c0024t0002g0006 a0027c0024t0002g0006	1	271	0.0037	221	c.43 others(230): Show c.430_*431insGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		304		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(214): Show TGTGGGGAGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	271	0.0037	221	c.79 others(230): Show c.797_*798insGTGGGGAGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VCX_chrX_7838171_7849143	7844261	G G	GGAGGTGT others(214): Show GGAGGTGTGTGGGGGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	341	0.0029	221	c.24 others(230): Show c.245_*246insGAGGTGTGTGGGGGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		119		chrX	TogoVar
VCX_chrX_7838171_7849143	7844261	G G	GGTGGTGT others(214): Show GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	341	0.0029	221	c.24 others(230): Show c.245_*246insGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		119		chrX	TogoVar
WDPCP_chr2_63114559_63593477	63575467	G G	GCAGTATA others(214): Show GCAGTATATACAGTGTATACACTGTATATACTGTATATACTGTATATACA GTGTATACACTGTATATACAGTATATACAGTGTATACACTGTATATACAG TATATACAGTGTATACACTGTATATACAGTATATACTGTATATACACTGT ATATACAGTATATACAGTATATACACTGTATATACAGTATATACAGTATA TACACTGTATATACAGTATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp2 NA18943.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0126 a0001c0001t0024g0131 a0001c0001t0024g0126 a0001c0001t0024g0131	2	216	0.0093	221	c.75+ others(238): Show c.75+12729_75+12730insTATATACTGTATATACAGTGTATATACT GTATATACTGTATATACAGTGTATATACTGTATATACTGTATATACAGTG TATATACAGTATATACTGTATATACAGTGTATACACTGTATATACTGTAT ATACAGTGTATACACTGTATATACTGTATATACAGTGTATACACTGTATA TACAGTATATACAGTATATACAGTGTATACACTGTATATACTG	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
YBEY_chr21_46281342_46302751	46292540	G G	GAGTGGGG others(214): Show GAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCCGGACTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	404	0.0025	221	c.339 others(238): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292540	G G	GAGTGGGG others(214): Show GAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	404	0.0025	221	c.339 others(238): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292556	G G	GCAAGTTA others(214): Show GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0381 a0001c0001t0001g0381	1	404	0.0025	221	c.339 others(238): Show c.339+1128_339+1129insCAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar

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