Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(226): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATATTATATATAATATTTATATATTA TATATAATATATATATATTATATATAATATTTATATATTATATATAATAT ATATATATTATATATAATATTTATATATTATATATAATATATATATTATA TATAATATTTATATATTATATATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	330	0.0030	233	c.69+ others(250): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATATTATATATAATATTTATATA TTATATATAATATATATATATTATATATAATATTTATATATTATATATAA TATATATATATTATATATAATATTTATATATTATATATAATATATATATT ATATATAATATTTATATATTATATATAATATTTATATATTATATATAATA TTTAT	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF16_chr8_144925358_144955880	144946552	G G	GGGTCTGT others(226): Show GGGTCTGTACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTG CTGTGGGCCCGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCCTGTA CCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGTGGGGCT GTGTCCTGCTGTGGGCCCGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGG GGCCTGTACCCTGCTGTGGGCCATACCCTTCTGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	404	0.0025	233	c.-9- others(246): Show c.-9-338_-9-337insACAGAAGGGTATGGCCCACAGCAGGGTACAGG CCCCACAGCAGGACACAGGCCCACAGCAGGACACGGGCCCACAGCAGGAC ACAGCCCCACAGCAGGGTACAGGCCCACAGAAGGGTATGGCCCACAGCAG GGTACAGGCCCCACAGCAGGACACAGGCCCACAGCAGGACACGGGCCCAC AGCAGGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGGTACAGAC C	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF16_chr8_144925358_144955880	144947044	T T	TGGGGCTG others(226): Show TGGGGCTGTGTCCTGCTGTGGGCCTGTACCCTGCTGTGGGCCTGTACCCT GCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGCCTGTG TCCTGCTGTGGGGCCCGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCC TGTACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTG GGGCTGTGTCCTGCTGTGGGCCTGTACCCTGCTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0122 a0006c0012t0001g0122	1	404	0.0025	233	c.-9- others(246): Show c.-9-830_-9-829insCAGCAGGGTACAGGCCCACAGCAGGACACAGC CCCACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCACAGCAGGGTA CAGGCCCACAGAAGGGTATGGCCCACAGCAGGGTACGGGCCCCACAGCAG GACACAGGCCCACAGCAGGACACAGCCCCACAGCAGGACACAGGCCCACA GCAGGGTACAGGCCCACAGCAGGGTACAGGCCCACAGCAGGACACAGCCC C	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF512B_chr20_63951704_63974930	63964965	T T	TTCCTCCC others(226): Show TTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCC TCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCC CGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTGG GACGAGCCCCCATACCTTTTCTTACCACTGTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0150 a0001c0002t0005g0150	1	356	0.0028	233	c.103 others(250): Show c.1035-250_1035-249insGGAACAGTGGTAAGAAAAGGTATGGGGG CTCGTCCCAGGTCGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCG TCCCAGGTCGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCC AGGTCGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAGGT CGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAGGTCGGG GAGGA	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF845_chr19_53328749_53361906	53344640	T T	TTTATGTT others(226): Show TTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTAT TTTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATATGTTATG TTATATGTTATGTTATATGTTATGTTATATGTTATGTTATATGTTATGTT ATATGTTATGTTATATGTTATGTTATATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0017 a0005c0009t0017	a0005c0009t0017g0212 a0005c0009t0017g0212	1	476	0.0021	233	c.16- others(246): Show c.16-862_16-861insGTTATTTTATGTTATTTTATGTTATTTTATGT TATTTTATGTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTTAT GTTATATGTTATGTTATATGTTATGTTATATGTTATGTTATATGTTATGT TATATGTTATGTTATATGTTATGTTATATGTTATGTTATATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA T	ZNF845	ENSG00000213799.13	transcript	ENST00000458035.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF845_chr19_53328749_53361906	53344640	T T	TTTATTTT others(226): Show TTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTAT GTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATATG TTATGTTATATGTTATGTTATATGTTATGTTATATGTTATGTTATATGTT ATGTTATATGTTATGTTATATGTTATGTTATATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0017 a0005c0009t0017	a0005c0009t0017g0225 a0005c0009t0017g0225	1	476	0.0021	233	c.16- others(246): Show c.16-859_16-858insATGTTATTTTATGTTATTTTATGTTATTTTAT GTTATTTTATGTTATTTTTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATATGTTATGTTATATGTTATGTTATATGTTATGTTATATGTTAT GTTATATGTTATGTTATATGTTATGTTATATGTTATGTTATATGTTATGT TATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATTT T	ZNF845	ENSG00000213799.13	transcript	ENST00000458035.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(227): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATATTTATATTTATAGATA AATATATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0068 a0002c0004t0002g0068	1	306	0.0033	234	c.130 others(253): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAATATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1118768	T T	TTCCTCCC others(227): Show TTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCT CCCCAGCATTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCT GAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	337	0.0030	234	c.246 others(251): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAT GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118768	T T	TTCCTCCC others(227): Show TTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCT CCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCT GAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG01975.hp2 others(12): Show HG00438.hp2 HG01884.hp1 HG01975.hp2 HG02165.hp1 HG02273.hp1 HG02523.hp2 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG03579.hp2 NA18980.hp2 NA19002.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0045 a0001c0001t0072 a0001c0002t0008 a0001c0003t0080	a0001c0001t0002g0138 a0001c0001t0003g0112 a0001c0001t0003g0222 others(12): Show a0001c0001t0002g0138 a0001c0001t0003g0112 a0001c0001t0003g0222 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0006g0090 a0001c0001t0007g0251 a0001c0001t0010g0298 a0001c0001t0011g0232 a0001c0001t0013g0048 a0001c0001t0021g0272 a0001c0001t0045g0247 a0001c0001t0072g0175 a0001c0002t0008g0037 a0001c0003t0080g0287	15	337	0.0445	234	c.246 others(251): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118771	T T	TCCCCAGC others(227): Show TCCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAAC CCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCATTAT CCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCC AGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAG TTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0292 a0001c0001t0015g0292	1	337	0.0030	234	c.246 others(251): Show c.246+6411_246+6412insGAGAACTCAGGCTCAGGGATAACGCTGG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG CTCAGGGATAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGTTCAGGGATAATGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119087	T T	TCCCCAGC others(227): Show TCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAAC CTGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTAT CCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCC AGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAG TTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0010 a0001c0001t0039g0010	1	337	0.0030	234	c.246 others(251): Show c.246+6095_246+6096insGAGAACTCAGGCTCAGGGATAACGCTGG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG CTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGG AACTCAGGTTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACG CTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143462	G G	GCAGCTCG others(227): Show GCAGCTCGCTCCTGGGGGGCAGCTCATTCCTGGGGGACAGCTCGCTCCTG GGGGACAGCTCGCTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCATT CCTGGGGGACAGCTCACTCCTGGGGGGCAGCTCGCTCCTGGGGGGCAGCT CATTCCTGGGGGACAGCTCATTCCTGGGGGACAGCTCGCTCCTGGGGGGC AGCTCGCTCCTGGGGGACAGCTCATTCCTGGGGGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18999.hp2 NA19066.hp1 NA18940.hp1 NA18999.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291 a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291	3	337	0.0089	234	c.62- others(251): Show c.62-18096_62-18095insTCCCCCAGGAATGAGCTGTCCCCCAGGA GCGAGCTGCCCCCCAGGAGCGAGCTGTCCCCCAGGAATGAGCTGTCCCCC AGGAATGAGCTGCCCCCCAGGAGCGAGCTGCCCCCCAGGAGTGAGCTGTC CCCCAGGAATGAGCTGTCCCCCAGGAGCGAGCTGCCCCCCAGGAGCGAGC TGTCCCCCAGGAGCGAGCTGTCCCCCAGGAATGAGCTGCCCCCCAGGAGC GAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288627	C C	CCGTGTCT others(227): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	295	0.0034	234	c.49 others(245): Show c.4936_*4937insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGG CAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3763		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288627	C C	CCGTGTCT others(227): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	234	c.49 others(245): Show c.4936_*4937insACGGAGCAGGGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGACACGGGACGG AGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3763		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCC others(227): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	295	0.0034	234	c.40 others(245): Show c.4092_*4093insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACA CGGGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACTCGGGGGACGGAGCAGGGACACGGGAC GGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACSF3_chr16_89088852_89161233	89147288	T T	TGTGAGTG others(227): Show TGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGG GCCACAGAGTGAGTGAGGGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGA GGAGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGT GAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCC ACAGAGTGAGTGAGGGAGGAGGGAGGGTCCACAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0243 a0001c0001t0029g0243	1	368	0.0027	234	c.161 others(253): Show c.1613+1301_1613+1302insTGAGGGAGGAGGGAGGGTCCACAGAG TGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGG GGCCACAGTGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGCAAGGG GGGGAGGGGCCACAGAGTGAGTGAGGGAGGAGGGAGGGTCCACAGAGTGA GTGAGGGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCCAC AGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179134887	C C	CGAGCCTC others(227): Show CGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGTCCCCAGCTCCCGGCTCCA GCTCCAGCCCCCAGCTCCCGGATCCAGCCCCCAGCTCCGAGCCTCTAGCC CCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCCAGCTCCC GGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCAGCTCCCGGCTCCAGCTC CAGCTCCCGGCTCCAGTCCCCAGCTCCGAGCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp1 HG02886.hp1 others(2): Show HG02451.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03540.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0019	a0001c0014 a0001c0075 a0002c0030 others(2): Show a0001c0014 a0001c0075 a0002c0030 a0003c0108 a0019c0084	a0001c0014t0008 a0001c0075t0020 a0002c0030t0008 others(2): Show a0001c0014t0008 a0001c0075t0020 a0002c0030t0008 a0003c0108t0008 a0019c0084t0008	a0001c0014t0008g0065 a0001c0075t0020g0074 a0002c0030t0008g0121 others(2): Show a0001c0014t0008g0065 a0001c0075t0020g0074 a0002c0030t0008g0121 a0003c0108t0008g0207 a0019c0084t0008g0198	5	276	0.0181	234	c.208 others(253): Show c.2085+1021_2085+1022insAGAGGCTCGGAGCTGGGGACTGGAGC CGGGAGCTGGAGCTGGAGCCGGGAGCTGGAGCTGGAGCCGGGAGCTGGGG GCTGGAGCCGGGAGCTGGGAGCTGGAGCCGGGAGCTGGGGGCTGGAGCCG GGAGCTGGGGGCTAGAGGCTCGGAGCTGGGGGCTGGATCCGGGAGCTGGG GGCTGGAGCTGGAGCCGGGAGCTGGGGACTGGAGCCGGGAGCTGGGGGCT AGAGGCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(227): Show ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTATATATATTTTATATATATTTTATATATAGTATGT ACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATAGT ATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATA TAGTATGTACTATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0006 a0001c0001t0001 a0003c0005t0006	a0001c0001t0001g0075 a0003c0005t0006g0076 a0001c0001t0001g0075 a0003c0005t0006g0076	2	182	0.0110	234	c.505 others(253): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATAGAGTACATACTATATATAAAATATATATAAAATATATATAGTATA TACAGTATATATACTATATATAAAATATATATAGTATATACAGTATATAT ACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1327059	C C	CCAGCGCC others(227): Show CCAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCA CTGCCCAGCGCCTCCCCACTGCACAGCGCCTCCCCACTGCACAGCGCCTC CCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCG CCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCC AGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	106	0.0094	234	c.107 others(255): Show c.1077+35968_1077+35969insTGCCGTGGGGAGGCGCTGTGCCGT GGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTG CCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGC TGGGCCGTGGGGAGGCGCTGTGCAGTGGGGAGGCGCTGTGCAGTGGGGAG GCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCGTGG GGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327452	C C	CCAGCGCC others(227): Show CCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACTGCACAGCGCCTCCTCA CTGCACAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCCCAGCGCCTC CCCATGGCACAGCGCCTCCTCACTGCCCAGCGCCTCCTCACTGCACAGCG CCTCCTCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCCC AGCGCCTCCCCACGGCCCAGCGCCTCCTCACTGCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0032 a0002c0002t0026g0032	1	106	0.0094	234	c.107 others(255): Show c.1077+35575_1077+35576insTGCAGTGAGGAGGCGCTGGGCCGT GGGGAGGCGCTGGGCAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTGTG CAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTGGGCAGTGAGGAGGCGC TGTGCCATGGGGAGGCGCTGGGCAGTGAGGAGGCGCTGTGCAGTGAGGAG GCGCTGTGCAGTGAGGAGGCGCTGTGCAGTGGGGAGGCGCTGGGCCGTGG GGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327452	C C	CCAGCGCC others(227): Show CCAGCGCCTCCCCACGGCCCAGCGCCTCCTCACTGCACAGCGCCTCCTCA CTGCACAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCCCAGCGCCTC CCCATGGCACAGCGCCTCCTCACTGCCCAGCGCCTCCTCACTGCACAGCG CCTCCTCACTGCACAGCGCCTCCTCACTGCACAGCGCCTCCTCACTGCCC AGCGCCTCCCCACGGCCCAGCGCCTCCTCACTGCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG03209.hp1 HG02886.hp2 HG02897.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0002c0002t0021 a0001c0001t0001 a0001c0001t0012 a0002c0002t0021	a0001c0001t0001g0065 a0001c0001t0012g0024 a0002c0002t0021g0035 a0001c0001t0001g0065 a0001c0001t0012g0024 a0002c0002t0021g0035	3	106	0.0283	234	c.107 others(255): Show c.1077+35575_1077+35576insTGCAGTGAGGAGGCGCTGGGCCGT GGGGAGGCGCTGGGCAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTGTG CAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTGGGCAGTGAGGAGGCGC TGTGCCATGGGGAGGCGCTGGGCAGTGAGGAGGCGCTGTGCAGTGAGGAG GCGCTGTGCAGTGAGGAGGCGCTGTGCAGTGAGGAGGCGCTGGGCCGTGG GGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1577263	A A	AATACCCT others(227): Show AATACCCTCATGCACACAGAAGGTGGATGGAAAGAAGCTCAGGTGCATCC CGGTGTAAGGCCATCCAGAAGCTGCAGTGATACCCTCATGCACACAGGAG GTGGATGGAAAGGAGCTCAGGTGCATCCTGGTGTAAGGCCATCCAGAAGC TGCAGTGATACCCTCATGCACACAGAAGGTGGATGGAAAGAAGCTCAGGT GCATCCTGGTGTAAGGCCATCCAGAAGCTGCAGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02257.hp2 others(8): Show HG01243.hp1 HG02055.hp2 HG02257.hp2 HG02602.hp2 HG02717.hp1 HG02970.hp1 HG03669.hp1 HG03669.hp2 NA18522.hp1 NA18988.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0011 a0001c0001t0025 a0001c0001t0029 others(8): Show a0001c0001t0011 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0044 a0002c0002t0046 a0004c0005t0002 a0004c0005t0037	a0001c0001t0011g0026 a0001c0001t0025g0036 a0001c0001t0029g0031 others(8): Show a0001c0001t0011g0026 a0001c0001t0025g0036 a0001c0001t0029g0031 a0001c0001t0031g0059 a0002c0002t0004g0101 a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0044g0049 a0002c0002t0046g0056 a0004c0005t0002g0039 a0004c0005t0037g0064	11	106	0.1038	234	c.100 others(255): Show c.100+159787_100+159788insCACTGCAGCTTCTGGATGGCCTTA CACCAGGATGCACCTGAGCTTCTTTCCATCCACCTTCTGTGTGCATGAGG GTATCACTGCAGCTTCTGGATGGCCTTACACCAGGATGCACCTGAGCTCC TTTCCATCCACCTCCTGTGTGCATGAGGGTATCACTGCAGCTTCTGGATG GCCTTACACCGGGATGCACCTGAGCTTCTTTCCATCCACCTTCTGTGTGC ATGAGGGTAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(227): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0023 a0003c0003t0002g0023	1	218	0.0046	234	c.32- others(247): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(227): Show TTCTTTTCTTTTCTTTTCTTTTTAATGTTTTTTTTTATTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp2 others(109): Show HG00099.hp2 HG00140.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp2 NA19064.hp2 NA19067.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0004 a0001c0001 a0003c0006 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0003c0006t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(87): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0004g0003 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0155 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0209 a0001c0001t0004g0237 a0001c0001t0004g0242 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0006g0079 a0003c0006t0001g0008 a0004c0004t0001g0263	112	402	0.2786	234	c.12 others(245): Show c.1293_*1294insTCTTTTCTTTTCTTTTCTTTTTAATGTTTTTTTT TATTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(227): Show TTCTTTTCTTTTCTTTTCTTTTTAATGTTTTTTTTTATTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	402	0.0025	234	c.12 others(245): Show c.1293_*1294insTCTTTTCTTTTCTTTTCTTTTTAATGTTTTTTTT TATTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(227): Show TTCTTTTCTTTTTTTTTTTTTTTAATGTTTTTTTTTATTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02055.hp2 others(8): Show HG01070.hp1 HG01071.hp1 HG02055.hp2 HG02145.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG03942.hp2 HG04115.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0300 a0001c0003t0001g0301 others(7): Show a0001c0003t0001g0038 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0316 a0001c0003t0001g0321 a0001c0003t0001g0323	11	402	0.0274	234	c.12 others(245): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTTTAATGTTTTTTTT TATTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(227): Show TTCTTTTCTTTTTTTTTTTTTTTAATGTTTTTTTTTTTTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	402	0.0025	234	c.12 others(245): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTTTAATGTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
AFF2_chrX_148495617_149005663	148581036	C C	CACACATA others(227): Show CACACATATATACACATATGTGTATATATGTATATATACACATATGTGTA TATATGTATATATACACACATATATACACATATGTGTATATGTATATGTA CACATATATACACATATGTGTATATGTATATGTACACATATATACACATA TGTGTATATGTATATGTACACATATATACACATATGTGTATATGTATATG TACACATATATACACATATGTGTATATGTATATGT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	169	0.0059	234	c.48- others(251): Show c.48-70937_48-70936insATGTATATATACACATATGTGTATATAT GTATATATACACACATATATACACATATGTGTATATGTATATGTACACAT ATATACACATATGTGTATATGTATATGTACACATATATACACATATGTGT ATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACAC ATATATACACATATGTGTATATGTATATGTACACATATATACACATATGT GTATAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALKBH1_chr14_77667404_77713023	77711224	A A	AATATATA others(227): Show AATATATATTTATATATAAATATATATATATATAAATATATAAATATAAA TATATTTATAAATATAAATATTTAAAAATATAAATATAAATATATAAATA TAAATAAATATATAATATATATATATATAAATATAATATATTTATATATA TATATATATAAATATATATATATATATAAATATATATAAATATATATATA TATAAATATATATATATATATAAATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	360	0.0028	234	c.-32 others(245): Show c.-3221_-3220insATATTTATATATTTATATATATATATATATTTAT ATATATATATATTTATATATATTTATATATATATATATATTTATATATAT ATATATATAAATATATTATATTTATATATATATATATTATATATTTATTT ATATTTATATATTTATATTTATATTTTTAAATATTTATATTTATAAATAT ATTTATATTTATATATTTATATATATATATATTTATATATAAATATATAT	ALKBH1	ENSG00000100601.10	transcript	ENST00000216489.8	protein_coding		3202		chr14	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(227): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGGGAGAGGGGG AAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAGGGGGGAGGG GAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	356	0.0028	234	c.667 others(249): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCC CCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTC TCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTCT CCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(227): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCC TTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCT TCCTTTCTTCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0016 a0001c0012t0001g0016	1	48	0.0208	234	c.252 others(255): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGGA GGAAGAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAG AAAGAAAGGAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAG GAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(227): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCC TTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCT TCCTTTCTTCCTTCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0032 a0001c0001t0017g0032	1	48	0.0208	234	c.252 others(255): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGAA GGAAGAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAG AAAGAAAGGAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAG GAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO3_chr11_26327130_26668289	26529291	A A	ATATTATA others(227): Show ATATTATATATTATATAATATATAATATATAATATATAATATATATTATA TAATATATATTATATAATATATATTATATATTATATATTATATAATATAT AATATATAATATATAATATATAATATATATTATATATTATATATTATATA ATATATAATATATATTATATATTATATAATATATAATATATATTATATAA TATATATTATATATTATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	190	0.0053	234	c.738 others(251): Show c.738-1905_738-1904insTTATATAATATATAATATATAATATATA ATATATATTATATAATATATATTATATAATATATATTATATATTATATAT TATATAATATATAATATATAATATATAATATATAATATATATTATATATT ATATATTATATAATATATAATATATATTATATATTATATAATATATAATA TATATTATATAATATATATTATATATTATATAATATATATTATATATTAT TATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(227): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18747.hp1 HG00408.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	334	0.0060	234	c.838 others(249): Show c.838-693_838-692insCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(227): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18950.hp2 NA19068.hp1 HG00438.hp1 NA18950.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0174 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0174	3	334	0.0090	234	c.838 others(249): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(227): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18950.hp1 NA18948.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0229 a0001c0001t0001g0165 a0001c0001t0001g0229	2	334	0.0060	234	c.838 others(249): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2128943	C C	CCCCACAG others(227): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0286 a0001c0010t0001g0286	1	406	0.0025	234	c.806 others(249): Show c.806+146_806+147insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128943	C C	CCCCACAG others(227): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0208 a0001c0003t0002g0208	1	406	0.0025	234	c.806 others(249): Show c.806+146_806+147insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTTGGAGCTGTGGGGCG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(227): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATATAATTGTATATA TAATATATATTATATATATAATTGTATATATAATATATATTATATATATA ATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01255.hp2 others(3): Show HG00639.hp2 HG01106.hp2 HG01255.hp2 HG01261.hp1 HG02148.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show a0001c0001t0001g0113 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0209	6	384	0.0156	234	c.-12 others(245): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATATAATTGTATATATAATATATATTATATATATAATTGTATATATAATA TATATTATATATATAATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(227): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATATAATTGTATATATAATAT ATATTATATATAATTGTATATATAATATATATTATATATATAATTGTATA TATAATATATATTATATATAATTGTATATATAATATATATTATATATATA ATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	384	0.0026	234	c.-12 others(245): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATATAA TTGTATATATAATATATATTATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATATAATATATATTATATATAATTGTATATATAATA TATATTATATATATAATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(227): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGT GCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGT GCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	342	0.0029	234	c.62 others(245): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGG GGGGAGGGGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGT GGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(227): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTG CGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAG TGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGT GCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	342	0.0029	234	c.62 others(245): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTG TGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294179	G G	GAGGGGGA others(227): Show GAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGA GGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGA GGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGG AGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGG AGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	342	0.0029	234	c.63 others(245): Show c.6306_*6307insAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAG GGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGG GGAGTGCGGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAG GGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGG GGGAGTGCGGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4390		chr20	TogoVar
ARHGEF1_chr19_41878184_41912452	41893589	T T	TGGGGGGC others(227): Show TGGGGGGCCTGGACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTG GACGCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGCCTGGGT CTGAGGGAGGAGGGGGCTGGGGGCCTGAACGTCTGGGTCTGAGGGAGGAG GGGGCTGGGGGGCCTGGACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGG GCCTGGACGCCTGGGTCTGAGGGAGGAGGGGGCTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	234	0.0043	234	c.644 others(249): Show c.644+291_644+292insGCCTGGACGTCTGGGTCTGAGGGAGGAGGG GGCTGGGGGGCCTGGACGCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGC CTGGACGCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGCCTGAACGTCTGG GTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGTCTGGGTCTGAGGGAG GAGGGGGCTGGGGGGCCTGGACGCCTGGGTCTGAGGGAGGAGGGGGCTGG GGGG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(227): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	264	0.0038	234	c.102 others(251): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(227): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18984.hp2 HG01891.hp1 NA18984.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0006 a0001c0001t0001 a0004c0004t0006	a0001c0001t0001g0192 a0004c0004t0006g0184 a0001c0001t0001g0192 a0004c0004t0006g0184	2	226	0.0089	234	c.108 others(251): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112724129	A A	ATCGCCCC others(227): Show ATCGCCCCCTTCGCCCCCTTCGCCCCCTTCGCCCCCTTCACCCCCTTCGC CCCCTTCACCCCCTTCGCCCCCTTCACCCCCTTCGCCCCCTTCACCCCCT TCGCCCCCTTCACCCCCTTCGCCCCCTTCACCCCCTTCGCCCCCTTCACC CCCTTCGCCCCCTTCACCCCCTTCGCCCCCTTCACCCCCTTCGCCCCCTT CTCCCCCATCGCCCCCTTCGCCCCCTTCGCCCCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	254	0.0039	234	c.39+ others(251): Show c.39+33685_39+33686insGCCCCCTTCGCCCCCTTCGCCCCCTTCA CCCCCTTCGCCCCCTTCACCCCCTTCGCCCCCTTCACCCCCTTCGCCCCC TTCACCCCCTTCGCCCCCTTCACCCCCTTCGCCCCCTTCACCCCCTTCGC CCCCTTCACCCCCTTCGCCCCCTTCACCCCCTTCGCCCCCTTCACCCCCT TCGCCCCCTTCTCCCCCATCGCCCCCTTCGCCCCCTTCGCCCCCTTCGCC CCCTTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79357756	T T	TCTGGGTC others(227): Show TCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	298	0.0034	234	c.290 others(253): Show c.2904-1581_2904-1580insCGTGTGAGGGACCCTGTGTGAGGGAT GCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTG TCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCCG TGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTG AGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTG GAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(227): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp1 HG02965.hp1 HG01109.hp2 HG02818.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0044 a0001c0001t0001 a0001c0001t0019 a0001c0001t0044	a0001c0001t0001g0181 a0001c0001t0019g0230 a0001c0001t0044g0110 a0001c0001t0001g0181 a0001c0001t0019g0230 a0001c0001t0044g0110	3	252	0.0119	234	c.251 others(253): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82971823	C C	CAGAAGGA others(227): Show CAGAAGGACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCC ACTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCA CACCACACCACAGGGGATAGAAGGACCCGGTACTGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGATAGAA GGACCCACTACTGACCACACCACACCACAGGGGCT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0113 a0002c0027t0003g0113	1	266	0.0038	234	c.460 others(251): Show c.460-6078_460-6077insAGCCCCTGTGGTGTGGTGTGGTCAGTAG TGGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT GGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTATCCCCTGTGG TGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGT CAGTAGTGGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGT CCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar

Search by Variant

Search

Search Results