Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(515): Show TAATATATAATATATATAATATATAATATATAATATATATAATATATAAT ATATAATATATAATATATATAATATATAATATATATTATATATAATATAT ATATTATATATAATATATAATATATATTATATATAATATATATATTATAT ATAATATATAATATATATAATATAATATATATAATATAATATATATATTA TATATAATATATATTATATATTATATATAATATATATTTATATATAATAT ATAAATATATATTATATATAATATATAATATATAATTATATTATATATTA TATATAATATATATTTATATATAATATATAAATATAATTATATATTATAT ATAATATATAAATATATATTATATATAATATATAATATATATTTATATAT TATATATTATATATAATATATATTTATATATTATATATAATATATAAATA TATATTATATATATTTAATATATATTTTATATATAAATTATATATTATAT ATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0049 a0001c0003t0002g0050	2	188	0.0106	522	c.193 others(541): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATAATTATATATTATATATTATATATAATATATATTTATATA TTATATATAAATATATATTATATATAATATATAATATATATTATATATAA TATATATATTATATTATATATATTATATTATATATATTATATATTATATA TAATATATATATTATATATAATATATATTATATATTATATATAATATATA TATTATATATAATATATATTATATATTATATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCT others(515): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	290	0.0035	522	c.166 others(539): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4264064	G G	GGGAGGCC others(515): Show GGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTAGATCTCTC CTGAGTGAGGAGGCCGTGTGGATCTCTCCTGAGTGAGGGAGGCCGCGTGG ACCTCTCCTGGGGTAAGGAACGCCGCGTGGACCTCTCCTGGGGTAAGGAA GGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGA GTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACC TCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCG CGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGGG GAGGCCGCATGGACCTCTCCTGAGTGAGGGAAGCCGTGTGGACCTCTCCT GGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGGAGGCTGCGTAG ATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCTGGGGTAAGGAAGG CCGTGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0036 a0001c0049t0036	a0001c0049t0036g0109 a0001c0049t0036g0109	1	116	0.0086	522	c.638 others(541): Show c.6382-1058_6382-1057insAGGCCGCGTAGACCTCTCCTGAGTGA GGGAGGCCGCGTAGATCTCTCCTGAGTGAGGAGGCCGTGTGGATCTCTCC TGAGTGAGGGAGGCCGCGTGGACCTCTCCTGGGGTAAGGAACGCCGCGTG GACCTCTCCTGGGGTAAGGAAGGCCGCGTAGACCTCTCCTGAGTGAGGGA GGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGA GTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACC TCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCG CGTGGACCTCTCCTGAGTGGGGAGGCCGCATGGACCTCTCCTGAGTGAGG GAAGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCC TGAGTGAGGGAGGCTGCGTAGATCTCTCCTGAGTGGGGAGGCGGTGTGGA CCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264064	G G	GGGAGGCC others(515): Show GGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTGGATCTCTC CTGAGTGAGGAGGCCGTGTGGATCTCTCCTGAGTGAGGGAGGCCGCGTGG ACCTCTCCTGGGGTAAGGAACGCCGCGTGGACCTCTCCTGGGGTAAGGAA GGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGA GTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACC TCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCG CGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAG GGAGGCCGCGTGGACCTCTCCTGAGTGGGGAGGCCGCATGGACCTCTCCT GAGTGAGGGAAGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAG ACCTCTCCTGAGTGAGGGAGGCTGCGTAGATCTCTCCTGAGTGGGGAGGC GGTGTGGACCTCTCCTGGGGTAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0066 a0003c0001t0066	a0003c0001t0066g0041 a0003c0001t0066g0041	1	116	0.0086	522	c.638 others(541): Show c.6382-1058_6382-1057insAGGCCGCGTAGACCTCTCCTGAGTGA GGGAGGCCGCGTGGATCTCTCCTGAGTGAGGAGGCCGTGTGGATCTCTCC TGAGTGAGGGAGGCCGCGTGGACCTCTCCTGGGGTAAGGAACGCCGCGTG GACCTCTCCTGGGGTAAGGAAGGCCGCGTAGACCTCTCCTGAGTGAGGGA GGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGA GTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACC TCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCG CGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGGG GAGGCCGCATGGACCTCTCCTGAGTGAGGGAAGCCGTGTGGACCTCTCCT GGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGGAGGCTGCGTAG ATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCTGGGGTAAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(515): Show TAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGAGAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTCAGGGTG GATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGATGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGA TGGTTAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0127 a0004c0009t0004g0129 a0004c0009t0004g0127 a0004c0009t0004g0129	2	376	0.0053	522	c.101 others(541): Show c.1014-1173_1014-1172insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGAGAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGT CAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGATGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGATGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431796	T T	TAGGATGG others(515): Show TAGGATGGTTAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGT GGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG TTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGTTAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGAGAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0175 a0001c0004t0003g0175	1	376	0.0027	522	c.101 others(541): Show c.1014-1168_1014-1167insATGGTTAGGGTGGACAGGGTGGTTAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACA GGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431984	A A	ACAGGGTG others(515): Show ACAGGGTGGATAGGATGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGATG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	376	0.0027	522	c.101 others(539): Show c.1014-983_1014-982insCAGGGTGGATAGGATGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTG GTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGATAGGATGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432102	C C	CAGGGTGG others(515): Show CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGTTAGGGTGGATAG GGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0063 a0001c0005t0002g0063	1	376	0.0027	522	c.101 others(539): Show c.1014-857_1014-856insCAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAG GGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGG TTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432156	C C	CAGGGTGG others(515): Show CAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAG GGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGG AGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGG TGGAGAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0251 a0001c0003t0001g0251	1	376	0.0027	522	c.101 others(539): Show c.1014-794_1014-793insCAGGGTGGACAGGGTGGACAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGG GTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGATGG others(515): Show TAGGATGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGATGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGTTAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0365 a0002c0002t0001g0365	1	376	0.0027	522	c.101 others(539): Show c.1014-790_1014-789insATGGTTAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGAGAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA TAGGATGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923722	T T	TATACATA others(515): Show TATACATATGTACATATACATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATGTACA TATATGTACATATGTACATATATACATATACATATGTACATATACACATA TACATATGTATATATACATATATGTACACATGTACATATACATATGTATA TATGTACATATGTACATATATGTATATGTACATATATGTACATATATACA TATATACATATGTATATATGTACATATGTACATATATGTATATGTACATA TATGTACATATATACATATGCAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0174 a0001c0001t0058g0174	1	182	0.0055	522	c.173 others(541): Show c.173+15834_173+15835insCATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATGTATATATA CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATGTACATATATGTACATATGTACATATATACATATACATATGTA CATATACACATATACATATGTATATATACATATATGTACACATGTACATA TACATATGTATATATGTACATATGTACATATATGTATATGTACATATATG TACATATATACATATATACATATGTATATATGTACATATGTACATATATG TATATGTACATATATGTACATATATACATATGCACATACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC6A3_chr5_1387794_1450440	1422732	G G	GCCCACCG others(515): Show GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACGGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTAC CCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCC ACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCC ACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAC GGTGCTGCCCACGCTGCTGGGTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0177 a0001c0006t0005g0177	1	373	0.0027	522	c.654 others(537): Show c.654-719_654-718insTACCCAGCAGCGTGGGCAGCACCGTGGGCA GCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCA GCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGC GGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGC ACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGG TGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGC AGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGC ACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGG TGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168593955	C C	CGAGCATC others(515): Show CGAGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCAC AAGGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCACCTCCTTCCTAAGGCCTC ACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTCC TTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTC CTTCCTGAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCT CCTCCTTCCTGAGGCCTCACGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	180	0.0056	522	c.638 others(539): Show c.638-4862_638-4861insAGCATCTTTCTAGAGGATCGCGGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCGCTGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAG CACCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCG AGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CGCCGAGCTCCTCCTCCTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGA GGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACAAGGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(515): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCC CTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCT GTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCT CTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTGTCTCTGTCTCTATCTCT GTCTCTGTCTCTCTCTGTCTCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0001 a0014c0035t0001	a0014c0035t0001g0071 a0014c0035t0001g0071	1	190	0.0053	522	c.719 others(541): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCC CCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTC TCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTC TGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGCCTATCTCTGTCTCTG TTTCTGTCTCTGTCTCTATCTCTGTCTCTGTCTCTCTCTGTCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SPAAR_chr9_35904490_35916686	35914388	G G	GAGTGTGT others(515): Show GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGTTGTATGTGTGTAGTGTGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGT GTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTTTGCTGTACT GTGTGTGTAAGTTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG02723.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0009 a0001c0001t0005g0002 a0001c0001t0005g0009	2	420	0.0048	522	c.36 others(533): Show c.3697_*3698insAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTGTGTTTT TGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTT TGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTG TTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTT TTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTT TTTGTTTGCTGTACTGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2703		chr9	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(515): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	322	0.0031	522	c.909 others(537): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPTSSA_chr14_34427788_34467240	34443516	T T	TGTGTGTG others(515): Show TGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTCCTCTCAT TACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTCTGCC TCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTCCT CTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCT CTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTTGTG TGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTCCTCTC ATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTCTG CCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTT TCCTCTCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0107 a0001c0001t0006g0104 a0001c0001t0006g0107	2	344	0.0058	522	c.113 others(539): Show c.113-8213_113-8212insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAAACACACACACACACACACACACACACACACACACACACAC ACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAG GTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAG GAAACTCCATCTCAAAACACACACAAACACACACACACACACACACACAA CACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTT GCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGGAA AACTCCATCTCAAAACACACACACACACACACACACACACACACACACAC ACACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAG AGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAG AGGAAACTCCATCTCAAAACACACACAAACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(515): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAG GGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGA GGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA TGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAG GGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAG AGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG02572.hp2 HG02886.hp1	a0001 a0015 a0001 a0015	a0001c0004 a0015c0053 a0001c0004 a0015c0053	a0001c0004t0004 a0015c0053t0001 a0001c0004t0004 a0015c0053t0001	a0001c0004t0004g0012 a0015c0053t0001g0027 a0001c0004t0004g0012 a0015c0053t0001g0027	2	256	0.0078	522	c.22 others(533): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGA GAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGA AAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(515): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGACAGG GAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGA GGGAGGGGAGGGGGAGAGGGGGGAGAGGGAGAGGGCGGGAGGGGAGGGAG GGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAG AGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGA GAGATGGGGGAGGGGGAGGGAGAGGGACGGGGAGGGAGAGGGACAGGGGG AGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGG AGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGAG GGAGAGAGAGGGAGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG03225.hp2 others(1): Show HG02258.hp1 HG02717.hp1 HG03225.hp2 NA20129.hp2	a0001 a0009 a0013 a0001 a0009 a0013	a0001c0002 a0009c0070 a0013c0133 a0001c0002 a0009c0070 a0013c0133	a0001c0002t0003 a0009c0070t0003 a0013c0133t0003 a0001c0002t0003 a0009c0070t0003 a0013c0133t0003	a0001c0002t0003g0135 a0001c0002t0003g0159 a0009c0070t0003g0169 others(1): Show a0001c0002t0003g0135 a0001c0002t0003g0159 a0009c0070t0003g0169 a0013c0133t0003g0037	4	256	0.0156	522	c.22 others(533): Show c.2270_*2271insGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGG AGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGG AGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGG AGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGG AGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGGGAGAGGG CGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGA GGGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGACGGGGAGG GAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGA GAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA GAGAGGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
SYNPR_chr3_63273308_63621924	63595833	T T	TTTTATAT others(515): Show TTTTATATATATATATAATTTTATATATATATAGTTTTATATATATATAT AATTTTATATATATATAGTTTTATATATATATATAATTTTATATATATAT AGTTTTATATATATATATAATTTTATATATATATAGTTTTTTATATATAT ATATAATTTTATATATATATAGTTTTTTATATATATATATATAATTTTAT ATATATATAGTTTTATATATATATATATAATTTTATATATATAGTTTTAT ATATATATATAATTTTATATATATATAGTTTTATATATATATATATAATT TTATATATATATAGTTTTATATATATATATAATTTTATATATATATAGTT TTATATATATATATATATAATTTTATATATATATAGTTTTATATATATAT ATATAATTTTATATATATATATATAATTTTATATATATATAGTTTTATAT ATATATAGTTATATATATATAATTTTATATATATATAGTTTTATATATAT ATAGTTATATATATATAATTTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp2 HG03225.hp1 HG02055.hp2 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0001g0213 a0001c0001t0002g0114 a0001c0001t0001g0163 a0001c0001t0001g0213 a0001c0001t0002g0114	3	246	0.0122	522	c.409 others(541): Show c.409-13291_409-13290insTTATATATATATATAATTTTATATAT ATATAGTTTTATATATATATATAATTTTATATATATATAGTTTTATATAT ATATATAATTTTATATATATATAGTTTTATATATATATATAATTTTATAT ATATATAGTTTTTTATATATATATATAATTTTATATATATATAGTTTTTT ATATATATATATATAATTTTATATATATATAGTTTTATATATATATATAT AATTTTATATATATAGTTTTATATATATATATAATTTTATATATATATAG TTTTATATATATATATATAATTTTATATATATATAGTTTTATATATATAT ATAATTTTATATATATATAGTTTTATATATATATATATATAATTTTATAT ATATATAGTTTTATATATATATATATAATTTTATATATATATATATAATT TTATATATATATAGTTTTATATATATATAGTTATATATATATAATTTTAT ATATATATAGTTTTATATATATATAGTTATATATATATAATTTTAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(515): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCGCCCCACC CATCCCCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCC GCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCT CCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCAC CCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCA TCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATC CTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	112	0.0089	522	c.142 others(543): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCGCCCCACCCATCCCCCATCCTCCCCTCTGCCCCACCCAT CCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCC GCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCAT CCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACC CATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCT CCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCC ACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(515): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCGCCCCACC CATCCCCCATCCTCCCCTCTGCCCCACCCATCCTCCCCTCTGCCCCACCC ATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCT CCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCC ATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCAGCCATCCCTCCCT CCCCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCTCCGCCCCAC CCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCA TCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATC CTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0051 a0001c0001t0011g0023 a0001c0001t0001g0051 a0001c0001t0011g0023	2	112	0.0179	522	c.142 others(543): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCGCCCCACCCATCCCCCATCCTCCCCTCTGCCCCACCCAT CCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCA CCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCAGCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCCCCCCACC CATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCT CCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCC ACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1272715	A A	ACACATCA others(515): Show ACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	392	0.0026	522	c.228 others(539): Show c.2287-436_2287-435insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376720	G G	GCCCCCAC others(515): Show GCCCCCACCCAGCCTCTCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTG TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCC TCTCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCGTGTGCCCACCCAGCCTCTCCCCCGTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	370	0.0027	522	c.-75 others(531): Show c.-751_-750insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACACG GGGGAGAGGCTGGGTGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCC ACAGGGGGGAGAGGCTGGGTGGGGCACACAGGGGAGAGGCTGGGTGGGGG CACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGC TGGGTGGAGGCACGGGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		695		chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(515): Show TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp2 HG00140.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0052 a0002c0002t0001g0054	2	54	0.0370	522	c.803 others(539): Show c.803-1579_803-1578insCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTC CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930701	T T	TAGGGAGG others(515): Show TAGGGAGGCTGGGGTTGGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCGGGGTCAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGGTTAGGAAGGC CGGGGTTAGGGAGACCAAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	466	0.0022	522	c.48 others(533): Show c.4889_*4890insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCC GGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGTCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCTAGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCCAACCCCAGCCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4668		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(515): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TATATTATATTATATAGTATATTATATTATATTATATAGTATATTATATT ATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATA GTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAG TATATTATATTATATAGTATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	118	0.0085	522	c.44- others(539): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATAATATACTATATTATATACTA TATAATATAATATACTATATTATATACTATATAATATAATATACTATATT ATATACTATATAATATAATATACTATATTATATACTATATAATATAATAT AATATACTATATAATATAATATAATATACTATATAATATAATATATATTA TATACTATATAATATAATATACTATATTATATACTATATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(515): Show TTCCCCCTTCCTCCCCTCCCCCCTTCCTCCCCTCCCCCTTCCTCCCTCCC CCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCC TTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTC CCTTATCCCTCCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTC CCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCC TTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0002 a0011c0026t0002	a0011c0026t0002g0086 a0011c0026t0002g0086	1	334	0.0030	522	c.657 others(537): Show c.657+440_657+441insCCTTCCTCCCCTCCCCCCTTCCTCCCCTCC CCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTC TTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTC CTCCGTCCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCCCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTTCTCCCTTATCCCTCCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCC CTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028667	C C	CCCCCACA others(515): Show CCCCCACATACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACCCCA CACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACATAC CCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTGAAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0021 a0021	a0021c0016 a0021c0016	a0021c0016t0002 a0021c0016t0002	a0021c0016t0002g0022 a0021c0016t0002g0022	1	224	0.0045	522	c.225 others(541): Show c.2251+1762_2251+1763insTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGA GTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGTA TGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGG GGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029061	A A	ACCCCCAC others(515): Show ACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACC CCACACACCCTCGTAAAGACCCCCATCACACCGTCCTAAAGACCCCCACA CACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTAAAGAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0140 a0003c0003t0001g0140	1	224	0.0045	522	c.225 others(541): Show c.2251+1368_2251+1369insGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTTAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGG TCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTA CGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCCCCACA others(515): Show CCCCCACACCACACCCCATACACACCACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCCACACACCACACCCCATACACACC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCCC ACACACCACACACCATACACACCACACCCCACACACACCACACCCCCCAC ACACCACACCCCACACACCACACCCCACACACACCACACACCACACACAC CACACCCCATACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCCCACACACCACACCCCACACACACCACACA CACCACACACACCACACACACCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	338	0.0030	522	c.35 others(541): Show c.35+21482_*35+21483insCCCACACCACACCCCATACACACCAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACCCCCCCA CACACCACACCCCATACACACCACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCCCACACACCACACC CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCACACACCACACCCCAC ACACACCACACACCACACACACCACACCCCATACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCCCACACAC CACACCCCACACACACCACACACACCACACACACCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131918730	G G	GGGGTGTG others(515): Show GGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTG TGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGT GTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAG GGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGG TGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTAGAGTGTGGGGT GTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGG TGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTG TGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGT CGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGTAGGGTG TGTGGTGTAGGGTATGGGGTGTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG01255.hp2 HG01346.hp1	a0002 a0006 a0002 a0006	a0002c0008 a0006c0034 a0002c0008 a0006c0034	a0002c0008t0004 a0006c0034t0004 a0002c0008t0004 a0006c0034t0004	a0002c0008t0004g0025 a0006c0034t0004g0213 a0002c0008t0004g0025 a0006c0034t0004g0213	2	344	0.0058	522	c.251 others(537): Show c.2511+96_2511+97insAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTG TGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGGG GTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGTGTGTGGGGT GTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTG TGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGG GTGTCGGGTGTGGGGTGTAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGT CGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTG GGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGT GTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGTATGGGGTGTCGGGTG TGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(515): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0131	1	326	0.0031	522	c.483 others(537): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCT CCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(515): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATACATATGTGTATATATGTATATGTATACATA TGTGTATATATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19060.hp1 HG01515.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0072 a0001c0001t0001g0011 a0001c0001t0001g0072	2	165	0.0121	522	c.-15 others(543): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATATGTAT ACATATGTGTATATATGTATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(515): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02293.hp2 HG02818.hp2 others(3): Show HG01981.hp1 HG02293.hp2 HG02818.hp2 HG03540.hp1 NA18960.hp2 NA18979.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0007	a0003c0003 a0005c0005 a0006c0013 others(1): Show a0003c0003 a0005c0005 a0006c0013 a0007c0007	a0003c0003t0002 a0003c0003t0015 a0005c0005t0002 others(2): Show a0003c0003t0002 a0003c0003t0015 a0005c0005t0002 a0006c0013t0005 a0007c0007t0002	a0003c0003t0002g0080 a0003c0003t0015g0061 a0005c0005t0002g0004 others(2): Show a0003c0003t0002g0080 a0003c0003t0015g0061 a0005c0005t0002g0004 a0006c0013t0005g0143 a0007c0007t0002g0013	6	412	0.0146	522	c.-42 others(533): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(515): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATACATATCACATATATCATATATAT CATACATATCACATATATCATATATATCATACATATCACATATATGATAT ATATCATATATATCACATATATCATATATATCATATATATCACATATATC ATATATATCATATATATCACATATATGATATATATATCATATATATCACA TATATGATATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	350	0.0029	522	c.-36 others(533): Show c.-3663_-3662insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATACATATCAC ATATATCATATATATCATACATATCACATATATCATATATATCATACATA TCACATATATGATATATATCATATATATCACATATATCATATATATCATA TATATCACATATATCATATATATCATATATATCACATATATGATATATAT ATCATATATATCACATATATGATATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(515): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCTCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCT CCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCTCTCCACC ACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGC GCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCA CCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACAGCCCCGCGCCG CACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02965.hp2 HG03041.hp1 HG01358.hp2 HG02965.hp2 HG03041.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0001c0005 a0004c0017 a0001c0004 a0001c0005 a0004c0017	a0001c0004t0102 a0001c0005t0094 a0004c0017t0074 a0001c0004t0102 a0001c0005t0094 a0004c0017t0074	a0001c0004t0102g0302 a0001c0005t0094g0196 a0004c0017t0074g0301 a0001c0004t0102g0302 a0001c0005t0094g0196 a0004c0017t0074g0301	3	346	0.0087	522	c.181 others(543): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTG GTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGA GGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGG TGTGGTTGGTGGTGGAGGGGTGCGGCGCGAGGGTGTGGTTGGTGGTGGAG AGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABR_chr17_998519_1184981	1173203	A A	ACATCACC others(516): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAG CCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCA GTCCACCCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	337	0.0030	523	c.61+ others(538): Show c.61+6463_61+6464insGGGGGGGGTGGGCTGAGGTGATGTGTTGAG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGGTGGACTGAGGT GATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGG GGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGG TGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTG ATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(516): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	523	c.-10 others(534): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTAT ATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(516): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	523	c.-10 others(534): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTAT ATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(516): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19065.hp1 NA18993.hp2 NA19065.hp1	a0003 a0004 a0003 a0004	a0003c0006 a0004c0008 a0003c0006 a0004c0008	a0003c0006t0001 a0004c0008t0001 a0003c0006t0001 a0004c0008t0001	a0003c0006t0001g0170 a0004c0008t0001g0061 a0003c0006t0001g0170 a0004c0008t0001g0061	2	228	0.0088	523	c.259 others(544): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCT CCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCT CTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ALLC_chr2_3653200_3707671	3690278	C C	CCCCCTCC others(516): Show CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCGTCCCCCCCCCTCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCCCTCCTCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0012 a0002c0005t0002g0012	1	274	0.0037	523	c.512 others(540): Show c.512-5424_512-5423insCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCTCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(516): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAC ATATAATATATATTCTCATATATATTATATATACTCATATATATAATATA TATTCTCATATATATATATTATATATTCTCATATATATAATATATATATT CTCATATATAATATATATTCTCATATATATAATATATACTCATATATTAT ATATATTCTCATATATTATATATATACTCATATATAATGTATATATTCTA ATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATATAA TATATATTCTCATATATGACATATTATATATATTCTCATATATATTATAT ATTCTCATATATAATATATATTCTCATATAATATATTATATATTCTCATA TAATATATTATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	416	0.0024	523	c.10 others(536): Show c.10504_*10505insTATATGAGAATATATAATATATTATATGAGAA TATATAATATATTATATGAGAATATATATTATATATGAGAATATATAATA TATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATAT GAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATAT ATACATTATATATGAGTATATATATAATATATGAGAATATATATAATATA TGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATATA TATTATATATATGAGAATATATAATATATATATATGAGAATATATATTAT ATATATGAGTATATATAATATATATGAGAATATATATTATATGTATATAA TATATATGAGAATATATATTATATGTATATAATATATATAATATATAATA TATAATATATAATATATAATATATACATATATACATATAATATATAAACA TATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132759078	G G	GGAGTGGC others(516): Show GGAGTGGCACCCTGGGGCACCCATGTGGCAGAGTGGATCGCTGCGGAGTG GCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCACCCC GGGGCACCCACGTGGCAGAGAGGATCGCGTGGACTGGCACCCCGGGGCAC CCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGT GGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGA GTGGATCGCTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGAT CGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCA GTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCAGAGTGG CACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCG GGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCTGGGGCAC CCACGTGGCAGAGTGGATCACGCA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0170 a0002c0002t0022g0170	1	350	0.0029	523	c.181 others(540): Show c.181+2539_181+2540insTGCGTGATCCACTCTGCCACGTGGGTGC CCCAGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGG GTGCCACTCTGCGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCAC TCTGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCG CAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCC ACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCACTCTG CCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGT GGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGC CCCGGGGTGCCAGTCCACGCGATCCTCTCTGCCACGTGGGTGCCCCGGGG TGCCACGCTGTGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACT CCGCAGCGATCCACTCTGCCACATGGGTGCCCCAGGGTGCCACTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(516): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA19011.hp1 NA18941.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0024 a0001c0001t0001g0001 a0001c0003t0001g0024	2	391	0.0051	523	c.36 others(534): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83026624	G G	GAGGAAAG others(516): Show GAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATACACAGAGGA GGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGG GCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCA GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGACGGGA GCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCGGGAGCC TGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGACGGGAGCCTGC AGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGGAGCCTGCAG ACAAACCCACCCTCGACAGACACACAGAGGAGGGCAGGGAGCCTGCAGAC AAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAA ACCCACCCTCGAGAGACACACAGAGGAGGGCAGGAAGCCTGCAGACAAAC CCACCCTCGACAGACACACAGAGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0221 a0001c0003t0015g0221	1	266	0.0038	523	c.297 others(540): Show c.297+8410_297+8411insGCTCTGTGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTTCCTGCCCTCCTCTGTGTGTCTCTCGAGGGTGGGTTTGT CTGCAGGCTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCT GCAGGCTCCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGC AGGCTCCCTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAG GCTCCCGTCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCC GTCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCC CCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCG CTCTGTGTGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCT CTGTGTATCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026624	G G	GAGGAAAG others(516): Show GAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATACACAGAGGA GGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGG GCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCA GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGACGGGA GCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCGGGAGCC TGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACGGGAGCCTGC AGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGGAGCCTGCAG ACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAGCCTGCAGAC AAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAA ACCCACCCTCGACAGACACACAGAGGAGGGCAGGAAGCCTGCAGACAAAC CCACCCTCGACAGACACACAGAGC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0230 a0001c0001t0022g0230	1	266	0.0038	523	c.297 others(540): Show c.297+8410_297+8411insGCTCTGTGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTTCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGT CTGCAGGCTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCT GCAGGCTCCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGC AGGCTCCCTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAG GCTCCCGTCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCT CCCGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCC GTCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCC CCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCG CTCTGTGTGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCT CTGTGTATCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(516): Show TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACC TTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCACCTTCC ACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCT TCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCACCTTCCG CCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCAC CTTCCACCTTCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0240 a0001c0001t0052g0240	1	394	0.0025	523	c.170 others(542): Show c.170-23353_170-23352insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTT CCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCA CCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGC CTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTC CGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACC TTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(516): Show TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACC TTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCACCTTCC ACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCT TCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCA CCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCAC CTTCTTCCACCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19085.hp1 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0164 a0001c0001t0001g0008 a0001c0001t0001g0164	2	394	0.0051	523	c.170 others(542): Show c.170-23353_170-23352insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTT CCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCA CCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGC CTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTC CGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACC TTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(516): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGG CCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATA GGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAG GGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0174 a0008c0009t0003g0174	1	338	0.0030	523	c.300 others(540): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)