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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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
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(713): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAG CGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTG TGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG02004.hp2 others(20): Show HG01099.hp1 HG01496.hp1 HG02004.hp2 HG02132.hp2 HG02135.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG04199.hp2 NA18612.hp1 NA18950.hp1 NA18957.hp2 NA18988.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19064.hp1 NA19065.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0012	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0015 a0001c0024 a0002c0006 a0002c0092 a0003c0026 a0004c0009 a0004c0084 a0004c0085 a0005c0021 a0012c0034	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0017 a0001c0005t0002 a0001c0008t0004 a0001c0015t0003 a0001c0024t0003 a0002c0006t0006 a0002c0092t0001 a0003c0026t0001 a0004c0009t0003 a0004c0084t0005 a0004c0085t0001 a0005c0021t0041 a0012c0034t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0091 others(20): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0005g0192 a0001c0002t0001g0243 a0001c0002t0002g0308 a0001c0003t0001g0165 a0001c0003t0017g0178 a0001c0005t0002g0337 a0001c0005t0002g0342 a0001c0008t0004g0285 a0001c0015t0003g0086 a0001c0024t0003g0060 a0002c0006t0006g0070 a0002c0092t0001g0230 a0003c0026t0001g0112 a0004c0009t0003g0078 a0004c0084t0005g0253 a0004c0085t0001g0200 a0005c0021t0041g0072 a0012c0034t0001g0196 a0012c0034t0001g0197	23	372	0.0618	720	c.180 others(739): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(713): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAG CGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCG TGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0179 a0004c0030t0001g0179	1	372	0.0027	720	c.180 others(739): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(713): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTCACAG CGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTG TGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02080.hp1 others(4): Show HG00609.hp1 HG02056.hp1 HG02080.hp1 HG02523.hp2 NA19063.hp1 NA19063.hp2 NA19087.hp1	a0001 a0006 a0027 a0001 a0006 a0027	a0001c0001 a0001c0004 a0001c0025 others(3): Show a0001c0001 a0001c0004 a0001c0025 a0001c0029 a0006c0027 a0027c0080	a0001c0001t0004 a0001c0001t0006 a0001c0004t0003 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0004t0003 a0001c0025t0002 a0001c0029t0002 a0006c0027t0007 a0027c0080t0003	a0001c0001t0004g0290 a0001c0001t0006g0047 a0001c0004t0003g0059 others(4): Show a0001c0001t0004g0290 a0001c0001t0006g0047 a0001c0004t0003g0059 a0001c0025t0002g0346 a0001c0029t0002g0330 a0006c0027t0007g0177 a0027c0080t0003g0057	7	372	0.0188	720	c.180 others(739): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(713): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTC ACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCAC AGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAG CGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTG CGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCG TGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0093 a0001c0015t0003g0093	1	372	0.0027	720	c.180 others(739): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTGG ATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGAT GGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGG GCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGC CGTGGTTACAGTGCGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(713): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAG CGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGCG TGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0006 a0002c0019t0006	a0002c0019t0006g0131 a0002c0019t0006g0131	1	372	0.0027	720	c.180 others(739): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGACCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTCACAGCGCGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(713): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAG CGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTG TGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0202 a0001c0008t0001g0202	1	372	0.0027	720	c.180 others(739): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(713): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGGCTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTCACAG CGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTG TGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0244 a0004c0009t0001g0244	1	372	0.0027	720	c.180 others(739): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGGCTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(713): Show TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTT ACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAG TGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTC GATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGA TGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATA GGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGA CCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGG CTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT GCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGC AGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0009 a0008c0023t0009	a0008c0023t0009g0015 a0008c0023t0009g0015	1	372	0.0027	720	c.180 others(739): Show c.180+27995_180+27996insACAGTGCGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAG TGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG CGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATG GGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGG CCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCC GTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGT GGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGC AGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385930	T T	TTACAGTG others(713): Show TTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTT GCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATG GACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGA CCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGG TTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGCTAC AGTGTGTGGATGGGCCGTGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02976.hp1 HG00738.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0010 a0001c0014t0026 a0001c0001t0010 a0001c0014t0026	a0001c0001t0010g0035 a0001c0014t0026g0156 a0001c0001t0010g0035 a0001c0014t0026g0156	2	372	0.0054	720	c.180 others(739): Show c.180+28383_180+28384insTGTGTGGATAGGCCGTGGTTGCAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGA CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTG TGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTG TGGATGGACCGTGGCTACAGTGTGTGGATGGGCCGTGGCTACAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385930	T T	TTACAGTG others(713): Show TTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTT GCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATG GACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGA CCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGG TTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGCTAC AGTGTGTGGATGGGCCGTGGC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0343 a0001c0015t0002g0343	1	372	0.0027	720	c.180 others(739): Show c.180+28383_180+28384insTGTGTGGATAGGCCGTGGTTGCAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGA CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATGGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTG TGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTG TGGATGGACCGTGGCTACAGTGTGTGGATGGGCCGTGGCTACAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(713): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	272	0.0037	720	c.925 others(735): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE4_chr3_131528569_132040014	131978243	T T	TTATATAT others(713): Show TTATATATTTTATATATATTTATATAAATATATATATTTATATATATTTA TATAAATATATATATTTATATATATTTATATATATTTATATATATTTTAT ATATATTTATATATATATTTATATATATTTATATTTATATATATATTTTT ATATATATTTATATATATTTATATTTATATATATATTTTTATATATTTAT ATATATATTTTTATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATTTATATATTTTTATATATTTATATATATATTTTTATAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATATATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATATATATATTTATATATATTTATAT ATTTATATATATTTATATATATATTTATATATATTTATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATTT TTATATATATATATTTATATATATTTTTATATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATTTATATATATTT ATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	94	0.0106	720	c.-2+ others(737): Show c.-2+56323_-2+56324insTAAATATATAAATATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATATAAATATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATATAAAAATATATATAAATATATATATATAAAAATATA TATAAATATATATATAAATATATATATAAATATATATATAAATATATATA AATATATAAATATATATAAATATATATATAAATATATATAAATATATAAA TATATATAAATATATATATATAAATATATATATAAATATATATATAAATA TATATATAAATATATATAAATATATAAATATATATAAATATATATATATA AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA AATATATATATAAATATATAAAAATATATAAATATATAAATATATATATA AATATATATATAAATATATATATAAATATATAAAAATATATATATAAATA TATAAAAATATATATATAAATATAAATATATATAAATATATATAAAAATA TATATATAAATATAAATATATATAAATATATATATAAATATATATAAAAT ATATATAAATATATATAAATATATATAAATATATATATTTATATAAATAT ATATAAATATATATATTTATATAAATATATATAAAATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240977880	A A	AGGAGCCC others(713): Show AGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAG CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGA GCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTC AGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCA TCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0009 a0009	a0009c0048 a0009c0048	a0009c0048t0001 a0009c0048t0001	a0009c0048t0001g0207 a0009c0048t0001g0207	1	350	0.0029	720	c.440 others(739): Show c.4402-4991_4402-4990insACTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGA CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980494	T T	TCCCAGGC others(713): Show TCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC AAGCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGA GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCTGGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	350	0.0029	720	c.440 others(739): Show c.4402-2346_4402-2345insTGGAGCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15933405	G G	GAGAGGAA others(713): Show GAGAGGAACGAGTGAGTGAGAAGAGGAACGAGTGAGTGAGGAGAGGAACG AGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGCGAG GAGAGGAACGAGTGAGCGAGGAGAGGAACGAGTGAGCGAGGAGAGGAACG AGTGAGCGGGGAGAGGAACGAGTGAGCGGGGAGAGGAACGAGTGAGCGGG GAGAGGAACGAGTGAGCGGGGAGAGGAACGAGTGAGCGAGGAGAGGAACG AGTGAGCGAGGAGAGGAACGAGTGAGCGAGGAGAGGAACGAGTGAGCGAG GAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAACG AGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGTGAG GAGAGGAACGAGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAACG AGTGAGTGAGGAGAGGAACGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGAAGAGGAATG AGTGAGTGAGAAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGG GAGAGGAATGAGTGAGTGGGC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0226 a0001c0002t0020g0226	1	386	0.0026	720	c.198 others(735): Show c.198+805_198+806insGCCCACTCACTCATTCCTCTCCCCACTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTTCTCACTCACTCATTCCTCT TCTCACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCT CCTCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCAC TCGTTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCT CCTCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCTCCTCGCTCAC TCGTTCCTCTCCTCGCTCACTCGTTCCTCTCCTCGCTCACTCGTTCCTCT CCTCGCTCACTCGTTCCTCTCCCCGCTCACTCGTTCCTCTCCCCGCTCAC TCGTTCCTCTCCCCGCTCACTCGTTCCTCTCCCCGCTCACTCGTTCCTCT CCTCGCTCACTCGTTCCTCTCCTCGCTCACTCGTTCCTCTCCTCGCTCAC TCGTTCCTCTCCTCACTCACTCGTTCCTCTCCTCACTCACTCGTTCCTCT CCTCACTCACTCGTTCCTCTTCTCACTCACTCGTTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933425	G G	GAGAGGAA others(713): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0160 a0002c0001t0005g0160	1	386	0.0026	720	c.198 others(735): Show c.198+785_198+786insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(713): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	320	0.0031	720	c.39 others(731): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIP2C_chr10_269201_694668	323237	T T	TCGGGGGT others(713): Show TCGGGGGTGCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAA CAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGGCTCCAGCGAGAGACCAGTGTTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCAGTCGGGGGTGCGGGGGTCCAGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCAGTCGGGGGTGCGGGGGCTCCAGCGAGAGACCAGTGTTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAA CAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAAC AGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACA GTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCAGTCGGGGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	88	0.0114	720	c.392 others(739): Show c.3924+3768_3924+3769insCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTC TAACAGCGCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCT AACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAA CAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAAC AACACTGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAAC AGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACA GCGCCGGTCTCTCGCTGGACCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACA CTGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGC CGGTCTCTCGCCGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGCACCCCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(713): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGG AGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGGGGA GGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAAGAGGGGGGAGGA GGAGGAAGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGG AGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0091 a0091	a0091c0214 a0091c0214	a0091c0214t0001 a0091c0214t0001	a0091c0214t0001g0137 a0091c0214t0001g0137	1	252	0.0040	720	c.118 others(739): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCTCCCTC CTCCTTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCTTCCTCCTCCTC CCCCCTCTTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCC CTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCTCCTCC TCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DUS3L_chr19_5780140_5796163	5795720	A A	ATTATTAT others(713): Show ATTATTATTATTATTATATTGTTGTTATTATTTTTGAGACAGAGTCTCAC TCTGTTGCCCAGGCTGGTGTGCAATGGCGCGATCTCAGCTCACTGCGACC TCCGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCCGCCTCCTGAGTAGCT GGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTA GAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTC AGGCAATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA GTCACCGCGCCTGGCCGGGGTGAGACTTCTTGTCCAGCTGGGCTTGTCCA CCATCCAGGGATGGGTACTCCTCCCTCCAGGGGTGCCTTTCCGTTCCCCT CTGAGGTTCTCCCACTTTTCTTTCTTATCATGTCACTACTACCCCAGACA GCTTTGAGGAGACAATTGTCAGATGGCAGAAACTGAGGCCCACAAAAGGC AACCTGAGGAATGTGGCCTCTCTCTGGGCCTCAGCCTTGAAGAAGAGATC TCCCAGGGCTGCCTGGCTGTGCCGTGTGATAACTCCACCTCCTCAGTGTA AGGCAATCCCAGAAGGCTTCCTGTAGGAGGAGGGCTGTGGATTGGCCAAT TTTTAAGTATGATATTAATATGAATAAAATAACATCAACTGTTTACTAAT ATATATAATTTATTATTATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 NA20905.hp2 HG03491.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	364	0.0055	720	c.-45 others(731): Show c.-4580_-4579insCAATAATAATAAATTATATATATTAGTAAACAGT TGATGTTATTTTATTCATATTAATATCATACTTAAAAATTGGCCAATCCA CAGCCCTCCTCCTACAGGAAGCCTTCTGGGATTGCCTTACACTGAGGAGG TGGAGTTATCACACGGCACAGCCAGGCAGCCCTGGGAGATCTCTTCTTCA AGGCTGAGGCCCAGAGAGAGGCCACATTCCTCAGGTTGCCTTTTGTGGGC CTCAGTTTCTGCCATCTGACAATTGTCTCCTCAAAGCTGTCTGGGGTAGT AGTGACATGATAAGAAAGAAAAGTGGGAGAACCTCAGAGGGGAACGGAAA GGCACCCCTGGAGGGAGGAGTACCCATCCCTGGATGGTGGACAAGCCCAG CTGGACAAGAAGTCTCACCCCGGCCAGGCGCGGTGACTCACACCTGTAAT CCCAGCACTTTGGGAGGCCAAGATGGGTGGATTGCCTGAGGTCAGGAGTT TGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACA AAATTAGCCAGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAG GCGGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGGTCGCAGTGAGC TGAGATCGCGCCATTGCACACCAGCCTGGGCAACAGAGTGAGACTCTGTC TCAAAAATAATAACAACAATATAATAATAATAATAA	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4558		chr19	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(713): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGGAAGGG AGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAG GGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGG GAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAG GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAG GGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGAAGGGAGGGAAG GAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	290	0.0035	720	c.757 others(737): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCTTCCCT CCCTTCCTCCCTCCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCT CCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCT CCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTT CCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCT CCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCC CTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTT CCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTT CCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTC CCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTC CCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTT CCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCT TCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCT TCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
ELP4_chr11_31504767_31795324	31581473	T T	TAAAAATA others(713): Show TAAAAATAACTTTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACA CTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGC GATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCA TTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACAC ATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGA ACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCAC ATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATC CTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTAT CGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAAT TGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGG ACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAATAAAAAAAATAAAAAAATAAAAAAACAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03831.hp1 HG03927.hp2 HG00323.hp2 HG03831.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0007g0045 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0007g0045	3	270	0.0111	720	c.382 others(739): Show c.382-13284_382-13283insCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAAAAAATAAAAAAAATAAAAAAATA AAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAACTTTG	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0144 a0001c0005t0001g0144	1	400	0.0025	720	c.103 others(735): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTG AGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG CGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp2 HG02132.hp2 others(3): Show HG02040.hp2 HG02083.hp2 HG02132.hp2 NA18940.hp1 NA18947.hp1 NA18981.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0007 a0001c0005 a0003c0007	a0001c0005t0001 a0003c0007t0001 a0001c0005t0001 a0003c0007t0001	a0001c0005t0001g0027 a0001c0005t0001g0161 a0003c0007t0001g0127 others(1): Show a0001c0005t0001g0027 a0001c0005t0001g0161 a0003c0007t0001g0127 a0003c0007t0001g0140	6	400	0.0150	720	c.103 others(735): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTG AGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACT TTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG CGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02735.hp2 HG00733.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	2	400	0.0050	720	c.103 others(735): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA TAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCA GGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GATAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	400	0.0025	720	c.103 others(735): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCA GGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	400	0.0025	720	c.103 others(735): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA TAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTG AGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACT TTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050044	T T	TGCCACCC others(713): Show TGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGT CCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACA AAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCAC CCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTAC CCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTC CCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCC ACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGT TCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAG CCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC TTACCCACGACAAAGTTCCCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0145 a0001c0005t0001g0145	1	400	0.0025	720	c.103 others(735): Show c.1030-56_1030-55insTGGGAACTTTGTCGTGGGTAAGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAA CTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGG AACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGG TGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
FLT3_chr13_27998274_28105576	27998959	A A	ATATATAT others(713): Show ATATATATTTATATGCATATAAATATATATTTATATACATATAAATATAT ATGTATATACATATAAATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATATACATATATATATGTATATACATATATAT ATATGTATATACATATATATGTATATACATATATATATATGTATATACAT ATAAATATATATGTATATACATATAAATATATATGTATATACATATAAAT ATATATGTATATACATATAAATATATATGTATGTATATTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAATATATATATTTATATACATATAAATATAT ATTTATATACATATAAATATATATTTATATACATATAAATATATATTTAT ATACATATAAATATATATTTACATACATATAAATATATATTTACATACAT ATAAATATATACATTTATATACATATAAATATATACATATATACATATAA ATATATATTTATATACATATAAATATATATATTTATATATATTTATATAT ATATAAATATATATATATTTATATATATATAAATATATATATATTTATAT ATATATAAATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	292	0.0034	720	c.50 others(731): Show c.5092_*5093insAATATATATATATTTATATATATATAAATATATA TATATTTATATATATATAAATATATATATATTTATATATATATAAATATA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA TGTATATATTTATATGTATATAAATGTATATATTTATATGTATGTAAATA TATATTTATATGTATGTAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATTTATATGTATATAAATATATATTTATATG TATATAAATATATATATTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA TATACATACATATATATTTATATGTATATACATATATATTTATATGTATA TACATATATATTTATATGTATATACATATATATTTATATGTATATACATA TATATATATGTATATACATATATATGTATATACATATATATATATGTATA TACATATATATATGTATATACATATATATTTATATGTATATACATATATA TTTATATGTATATACATATATTTATATGTATATACATATATATTTATATG TATATAAATATATATTTATATGCATATAAATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4314		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144472	C C	CTCCCCCC others(713): Show CTCCCCCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCC CTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCC CTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCC TCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCC TCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTC TCCCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCT CCCCCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCC TCCCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCT CCCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCC TGTCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCC CCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCC CCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCC TTCTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCC CCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCC TCCCCTCTCTCCCACCCTCTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02280.hp1 others(3): Show HG01069.hp2 HG01071.hp1 HG02280.hp1 HG02615.hp1 HG02717.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0032 a0006c0013 a0001c0002 a0001c0032 a0006c0013	a0001c0002t0001 a0001c0002t0009 a0001c0032t0001 others(1): Show a0001c0002t0001 a0001c0002t0009 a0001c0032t0001 a0006c0013t0001	a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0009g0155 others(2): Show a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0009g0155 a0001c0032t0001g0182 a0006c0013t0001g0004	6	230	0.0261	720	c.126 others(737): Show c.1260+944_1260+945insCAGAGGGTGGGAGAGAGGGGAGGAAGGA AAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGGGGGGAGAGG GAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAGAGAGGGAGAAGGAGGTG GGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGG GGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAGA GGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGAGACAGGGAGGA AGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGA GGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAG AGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGGGGGAGGGAGA GAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGG AGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAG AGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGGGGAGGGAGGG AGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGA GAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGG GGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(713): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCC TTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCT CTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTC CCTCTCCCCCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTC TCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCC CTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCAT CCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCTCT CCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCC CTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTC TCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCTCCC TCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTC TCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTC TGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02258.hp1 HG02451.hp1 others(2): Show HG01167.hp2 HG02258.hp1 HG02451.hp1 HG03130.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0031 a0003c0007 a0003c0014 a0001c0031 a0003c0007 a0003c0014	a0001c0031t0001 a0003c0007t0002 a0003c0014t0001 a0001c0031t0001 a0003c0007t0002 a0003c0014t0001	a0001c0031t0001g0184 a0003c0007t0002g0078 a0003c0007t0002g0135 others(2): Show a0001c0031t0001g0184 a0003c0007t0002g0078 a0003c0007t0002g0135 a0003c0014t0001g0118 a0003c0014t0001g0137	5	230	0.0217	720	c.126 others(737): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAG GAGAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGA GAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGG GAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAG AGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAG AGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGGGGGAGAGGGAAGAGA GGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGT AGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGG GAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGGGGGGGAAAGGGGAGGG AGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(713): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCC TCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCT CTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCT CTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCC TCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCC CCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCC TCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGT CTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCT CCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCT CTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCC CCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCTCCCCCCTCTCCC TCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCC TCTGTCCCCCTCTCCGTCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0016 a0001c0004t0002g0016	1	230	0.0044	720	c.126 others(737): Show c.1260+931_1260+932insGGAGACGGAGAGGGGGACAGAGGGTGGG AGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAG GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGAGGGGGG AGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGAGACAGGGA GGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGGGAGAG AGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGGA GAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAG GGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGA GGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGGGAGG GAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGGGGAGG GAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGGAGGG AGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGG AGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GALNT9_chr12_132191372_132334589	132241267	C C	CAGGGACC others(713): Show CAGGGACCCTCCCTATACCCATTACACACACAACACCCCCTTCCCAGGGA CCCTCCCTATACCCATTACACACACAACACACCCCCTTCCTGGGGCCGTC CCTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCTTAT ACCCATTACACACACAACACACCCCCTTCCTGGGGCCGTCCCTATACCCA TTACACACACAACACACCCCCTTCCTGGGGCCCTCCCTATACCCATTACA CACACAACACACACCCTTCCCAGGGCCCTCCCTATACCCATTACACACAC AACACACCCCCTTCCTGGGGCCGTCCCTATACCCATTACACACACACCAC ACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCC TTTCCTGGGGCCGTCCCTATACCCATTACACACACAACACACCCCCTTCC TGGGGCCCTCCGTATACCCATTACACACACAACACACACCCTTCCCGGGG CCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTC CCTATACCCATTACACACACAACACACCCCCTTCCTGGGGCCGTCCCTAT ACCCATTACACACACAACACACCCCCTTCCTGGGGCCCTCCCTATACCCA TTACACACACAACACACACCCTTCCCAGGGCCCTCCCTATACCCATTACA CACACAACACACACACTTCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02717.hp2 HG03453.hp1 others(1): Show HG01167.hp1 HG02717.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0029 a0001c0001 a0001c0014 a0001c0029	a0001c0001t0001 a0001c0014t0003 a0001c0029t0003 a0001c0001t0001 a0001c0014t0003 a0001c0029t0003	a0001c0001t0001g0150 a0001c0014t0003g0146 a0001c0014t0003g0153 others(1): Show a0001c0001t0001g0150 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0029t0003g0107	4	183	0.0219	720	c.107 others(739): Show c.1077+6642_1077+6643insTGGAAGTGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCTGGGAAGGGTGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGG GACGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGTGTGTGTTGTGTGTGTAATGGGTATACGGAGGGCCCCAGGAAG GGGGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCCAGGAAAGGGGT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGT GTGTGTGTAATGGGTATAGGGACGGCCCCAGGAAGGGGGTGTGTTGTGTG TGTAATGGGTATAGGGAGGGCCCTGGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGGT ATAGGGACGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAAG GAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGACGG CCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGTCCCT GGGAAGGGGGTGTTGTGTGTGTAATGGGTATAGGGAGGGTCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(713): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCC CGCCCCGCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	720	c.31 others(731): Show c.3134_*3135insGGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGG CAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGG GGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGA AGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGG GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATAAATA others(713): Show TATAAATATATATATTTATATTTATTTATATATATAAATATATATATTTA TATTTATATATATATAAATATATATATTTATATATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTTATATTTATTTATA TATATATAAATATATATATTTATATTTATATTTATATATTTATATTTATA TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT AATATATATTTATATATATAAATATATATATTTATATATAAATATATATT TATGTATATTTATATATAAATATATATATTTATATATATAAATATATATA TTTATATATAAATATATATATTTATATATAAATATATATATAAATATATA TATTTATATATAAATATATATATTTATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATTTATATATATAAATATATATATTTA TATATATATTTATATATAAATATATATATTTATATATAAATATATATATT TATATATATAAATATATATATTTATATATATAAATATATATATATTTATA TTTACAAATATATATATTTATATATATATTTATATTTATATATATTTATA TTTATATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	208	0.0048	720	c.-97 others(737): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTATATA TATAAATATATATATTTATATTTATATATATATAAATATATATATTTATA TATATATATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATATTTATATTTATATT TATATATTTATATTTATATATATAAATATATATATTTATATTTATTTATA TATATAAATATATATATTAATATATATTTATATATATAAATATATATATT TATATATAAATATATATTTATGTATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATATTTATATATAAATATATATATTTA TATATAAATATATATATTTATATATATAAATATATATATTTATATATATA AATATATATATATTTATATTTACAAATATATATATTTATATATATATTTA TATTTATATATATTTATATTTATATATATATATATAAATATATATTTATG TATATTTATATATAAATATAAATATATATTTATATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(713): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATTTA TATATAAATATATATATAAATATATATATTTATATATAAATATATATATT TATATATATATTTATATATAAATATATATATTTATATATAAATATATATA TTTATATATAAATATATATATTTATATATATAAATATATATATATTTATA TTTACAAATATATATATTTATATATATATTTATATTTATATATATTTATA TTTATATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	208	0.0048	720	c.-97 others(737): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATTTATATATAAATATATATATAAATATATATATTTATATATAAATAT ATATATTTATATATATATTTATATATAAATATATATATTTATATATAAAT ATATATATTTATATATAAATATATATATTTATATATATAAATATATATAT ATTTATATTTACAAATATATATATTTATATATATATTTATATTTATATAT ATTTATATTTATATATATATATATAAATATATATTTATGTATATTTATAT ATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	323552	G G	GTGTGTGT others(713): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCT CCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGC GTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTA GCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGAT GGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGG TTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTG AGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGC CGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGG AATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTT CCGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAG CTCAGGGACATGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCT GGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGACAGAATGAGGGCGTC CCCAGGTGATCTCAGGGACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	155	0.0065	720	c.-47 others(731): Show c.-4766_-4765insACGTCCCTGAGATCACCTGGGGACGCCCTCATTC TGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGG CTACACACACACACACACACACACACATGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCC AGGAGATTGACGGCTACACACACACACACACACACACACACACACACACA CACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAA CAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACAC ACACACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGA CGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAG GAGACTGACGGCTACACACACACACACACACACACACACACACACACAAA CGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACA GGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACAC ACACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCAT CTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTA CACACACACACACACACACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4757		chrX	TogoVar
GTPBP6_chrX_299759_323796	323560	G G	GTGTGTGT others(713): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCC TGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGT GGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTC TCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGG CGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTT CCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAG CTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGC CGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGG AATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGT CTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCA GGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGG GCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCC CAGGTGGTGAGCTCAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0004 a0015c0022t0004	a0015c0022t0004g0103 a0015c0022t0004g0103	1	155	0.0065	720	c.-47 others(731): Show c.-4774_-4773insTGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACGTCCCTGAGCTCACCACC TGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGA GCCCAGGAGATTGACGGCTACACACACACACACACACACACACACACACA CACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAA CAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACAC ACACACACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCC AGGAGACTGACGGCTACACACACACACACACACACACACACACACACACA CACACACAAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATC TCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTAC ACACACACACACACACACACACGTCCCTGAGCTCACCACCTGGGGACGCC CTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGA CTGACGGCTACACACACACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4765		chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544876	C C	CCACCATC others(713): Show CCACCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACC TCTACCACCACCACCACCACCACCACTACCACCTCTACCACCACCACCAC CACCACCACTACCACCTCTACCACCTCTACCACCACCACCACCATCACCT CTACCACCACCATCACCACCACCATCACCACCACCTCTACCACCACCATC ACCACCACCACCACCACCACCTCTACCACCACCATCACCTCTACCACCAC CATCACCACCACCACCACCATCACCACCTCTACCACCACCACTACCACCA CCACCACCACCACTACCACCTCTACCACCTCTACCACCACGACCACCACT ACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCAC CACCATCACCACCACCACCACCATCACCACCATCATCACCACCACCACTA CCACCTCTACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCACCACTACCACCTCTACCACCTCTACCACCACGACCACCACTAC CACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCA CCATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCATCACCACCTCTACCAC CACCATCACCACCACCACTAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0063 a0002c0002t0063	a0002c0002t0063g0022 a0002c0002t0063g0022	1	134	0.0075	720	c.520 others(741): Show c.5208-19967_5208-19966insATAGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAG TGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGT GGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGG TGGTAGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTAGAGG TGATGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTG GTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
ICA1_chr7_8108184_8267167	8152649	A A	ACCACTAC others(713): Show ACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCAC TACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCT CCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATC ACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCAC TACCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCA CTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCC TCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCC CAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCA CCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACC ACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCAT CTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCA CCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCACCATC ACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCAC CACCATCTCCTTCACCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCACTACCACCATCTCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0072 a0001c0001t0010g0072	1	274	0.0037	720	c.804 others(737): Show c.804+4466_804+4467insAGGAGATGGTGGTAGTGGTGGAGGAGGT GATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGT GATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGA GGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAG TGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATG GTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33323151	T T	TATATATA others(713): Show TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATGGAATGTATATATGGAATATATATATATG GAATATATATATGGAATGTATATATGGAATATATATGTGGAATGTATATA TGGAATATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATG TATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATAT ATGTGGAATGTATATATGTGGAATGTATATGTGGAATGTATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0109 a0003c0003t0031g0109	1	323	0.0031	720	c.-19 others(731): Show c.-1905_-1904insATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATGGAATGTATATATG GAATATATATATATGGAATATATATATGGAATGTATATATGGAATATATA TGTGGAATGTATATATGGAATATATATGTGGAATGTATATATGTGGAATG TATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATAT ATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTGGA ATGTATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1818		chr21	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(713): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCA GTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCT GGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGC GGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACC CTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTG GAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGT CAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGT CTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCG GCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGA CCCTCAGTCTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03139.hp1 NA18982.hp2 HG00621.hp2 HG03139.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0043 a0001c0012t0025 a0001c0001t0001 a0001c0001t0043 a0001c0012t0025	a0001c0001t0001g0120 a0001c0001t0043g0121 a0001c0012t0025g0317 a0001c0001t0001g0120 a0001c0001t0043g0121 a0001c0012t0025g0317	3	440	0.0068	720	c.103 others(737): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATT CCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGA GGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGC CGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACAC CAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCA CTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGA TTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACT GAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACT GCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	G G	GTGTCACT others(713): Show GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTC CTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0179 a0001c0001t0052g0179	1	276	0.0036	720	c.80 others(729): Show c.802_*803insAACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACATTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACA AACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCA GTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACA GAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACTAGATGTCA CAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACTAGATGT CACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACG AGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGG AAGACTAGATGTCACAGAGGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	802		chr2	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(713): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGGGGTGGAGGGGTG ATGACGGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTG GGGGGGTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGA TGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATG ACGGTGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATG GTAGAGGTGATGATGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGT GGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGG TGGGGGTGATGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0076 a0076	a0076c0111 a0076c0111	a0076c0111t0001 a0076c0111t0001	a0076c0111t0001g0116 a0076c0111t0001g0116	1	186	0.0054	720	c.956 others(737): Show c.956+1962_956+1963insCCACCCCCACCATCACCCCCACCATCAT CACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCCACCATCA TCACCCTCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCG CCATCACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCACCGTCATTACC CCCACCATCATCACCCTCACCATCATCACCCCCACCCCCACCATCATCAC CCCCACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCC ATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCT CCACCCCCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACC ATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(713): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTG ATGGTAGAGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGT GATGATGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGG TGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTG GGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0000 a0000	a0000c0098 a0000c0098	a0000c0098t0001 a0000c0098t0001	a0000c0098t0001g0124 a0000c0098t0001g0124	1	186	0.0054	720	c.956 others(737): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCATC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCA TCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTC ATCACCCCCACCCCACCGTCATTACCCCCACCATCATCACCCTCACCATC ATCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCA CCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATCA CCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACC ATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	859648	G G	GAGTGATG others(713): Show GAGTGATGTCACGGGACGGGTGTGAGTCGTGTCTCGGGACGGGTGTGAGT CGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGC GAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGT GGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTG TCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGT GGTGTCTCGGGGTGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0120 a0002c0007t0001g0120	1	294	0.0034	720	c.153 others(739): Show c.1530-4943_1530-4942insGCACACCCACCCCGAGACACCACTCA CACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCG AGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGAC ACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCA CTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCG CACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACC CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG AGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCA CACCCGTCCCGAGACACGACTCACACCCGTCCCGTGACATCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0088 a0001c0041t0001g0088	1	294	0.0034	720	c.153 others(739): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCACCCCGTGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTC GCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCT CCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01517.hp1 HG02559.hp1 others(1): Show HG00099.hp1 HG01517.hp1 HG02559.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(1): Show a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0008t0001g0052	4	294	0.0136	720	c.153 others(739): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTC GCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCT CCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTG GTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG03831.hp2 others(1): Show HG00609.hp1 HG00673.hp2 HG03831.hp2 NA18967.hp2	a0001 a0001	a0001c0011 a0001c0044 a0001c0011 a0001c0044	a0001c0011t0001 a0001c0044t0001 a0001c0011t0001 a0001c0044t0001	a0001c0011t0001g0155 a0001c0011t0001g0157 a0001c0011t0001g0158 others(1): Show a0001c0011t0001g0155 a0001c0011t0001g0157 a0001c0011t0001g0158 a0001c0044t0001g0034	4	294	0.0136	720	c.153 others(739): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCT CCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTG GTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA20300.hp2 HG01192.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0213 a0001c0004t0001g0054 a0001c0001t0001g0213 a0001c0004t0001g0054	2	294	0.0068	720	c.153 others(739): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCT CCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar

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