Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(719): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	292	0.0034	726	c.718 others(743): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA TGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924754	T T	TGAACACT others(719): Show TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	292	0.0034	726	c.718 others(743): Show c.718-5157_718-5156insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAAC ACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924827	C C	CAGGAACA others(719): Show CAGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGG TAGAAACAGCACACGTAAGATCAGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGG AACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGG AGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACTGGGAACAGTCGTGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	292	0.0034	726	c.718 others(743): Show c.718-5090_718-5089insAGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCAGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA TGAGGAGATGTGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGTGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924876	C C	CGAGGAGA others(719): Show CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACCGGGAACGGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	292	0.0034	726	c.718 others(743): Show c.718-5032_718-5031insCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACGGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(719): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGACGAGATGCAAACACTGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGA GATGCGAACACCAGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAACACCAGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	1	292	0.0034	726	c.718 others(743): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGACGAGATGC AAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGT GTGCACGAGGAGATGCGAACACCAGGAACAGTCGAGTGGGTAGAAACAGC ACACGTAAGGTCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAAC ACCAGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACAC TGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(719): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGTGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 homoSapiens_chm13v2.hp1 HG01070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0287 a0001c0001t0002g0262 a0001c0001t0002g0287	2	292	0.0069	726	c.718 others(743): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGTGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACAC TGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925150	C C	CGAACACC others(719): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19043.hp2 HG02145.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0105 a0001c0001t0003g0106	2	292	0.0069	726	c.718 others(743): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925150	C C	CGAACACC others(719): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACTGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCAAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	292	0.0034	726	c.718 others(743): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCAAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCCTAC others(719): Show CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	376	0.0027	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	376	0.0027	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	376	0.0027	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	376	0.0027	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	376	0.0027	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(719): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	376	0.0027	726	c.15 others(737): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCATCACCATCACCATCACCACCACCATC ACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCAT CACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCA CCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACC ATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCAT CACCACCATCATCACCACCATCACCATCACCACCACCATCACGATTATCA CCATCACCGCCATCATTACCACCATCATCACCATCACCACCACCATCACC ACCGCCACCATCATCATCACCACCACCACCATCACCAGCGCCACCACCAC CATCACCATCACCACCACCACCATCACCATCACCACCATCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0015 a0008c0013t0015	a0008c0013t0015g0006 a0008c0013t0015g0006	1	300	0.0033	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGT GATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGA TGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATG GTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGATGGT GATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAG TGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCACCAT CACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCACCA TCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCATCACCATCACCACCATCACCATCGCCACCATCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0269 a0001c0002t0005g0269	1	300	0.0033	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGT GGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGG TGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATC GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGT GGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGG TGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTG ATGGTGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGT GATGGTGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCAC CATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCA CCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCATCACCATCACCACCATCACCATCGCCACCATCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0003 a0002c0003t0032 a0001c0006t0003 a0002c0003t0032	a0001c0006t0003g0255 a0002c0003t0032g0256 a0001c0006t0003g0255 a0002c0003t0032g0256	2	300	0.0067	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGT GGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGG TGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATC GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGT GGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGG TGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTG GTGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGAT GGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCAC CATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCA CCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACC ATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCAT CACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCA TCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACC ACCACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAG CGCCACCACCATCACCATCACCACCATCACCATCGCCACCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0257 a0001c0002t0005g0257	1	300	0.0033	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGTGGC GCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGGTGG TGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATCGTG ATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGTGGT GATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGA TGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATG GTGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGAT GGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCAC CATCACCACCACCATCATCACCATCATCACCATAACCACCACCACCACCA TCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCATCACCATCACCACCATCACCATCGCCACCATCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0254 a0001c0002t0006g0254	1	300	0.0033	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGT GGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGG TGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATC GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGT GGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGG TGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTG ATGGTGGTGGTGGTGGTTATGGTGATGATGGTGATGATGGTGGTGGTGAT GGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(719): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCT GCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCT GCATACCCCACAACCTCCCCTGCACACCCCCTCCCCTGCACACCCCCCCT CTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCT GCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCCCCACA CACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCA CCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCTC CCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGCAC ACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCA TCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0126 a0004c0043t0126	a0004c0043t0126g0099 a0004c0043t0126g0099	1	210	0.0048	726	c.147 others(743): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTG CACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCC CTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTG CACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCTCCCCTGCACAC CCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCC CTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCT CCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCA CACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCA TCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTC CCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCAC ACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(719): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTATATATATATGTATATATATACACATATATATAC ATATATATATACACACATATATATACACACATATATATACACACATATAT ATACACACACACACACATAATATATATGTATTATATATATGTATATAATA TATATATATATATTATCAGCAGCTGTATTGACAAGATTTTCATTACTTCC TAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTTTATATATA TATAAATGTATATAATATATATACATATATATAATACATATATATGTATA TAATATATATATGTATTATGTGTGTGTGTGTATATATATGTGTATATATA TATGTATATATATATACACATATATATACACACATATATATACACACACA CACATAATACATATATATATTATATACATATATATGTATTATATATATGT ATATATATTATATACATATATATGTATTATATATATGTATATATATTATA TACATATATATGTATTATATATATGTATATATATTATATACATATATATG TATTATATATATGTATATATATTATATACATATATATGTATTATATATAT GTATATATATTATATACATATATATGTATTATATATATGTATATATATTA TATACATATATATGTATTATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	170	0.0059	726	c.106 others(745): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATAT ACACATATATATACATATATATATACACACATATATATACACACATATAT ATACACACATATATATACACACACACACACATAATATATATGTATTATAT ATATGTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGA TTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTT AAAGTTTATATATATATAAATGTATATAATATATATACATATATATAATA CATATATATGTATATAATATATATATGTATTATGTGTGTGTGTGTATATA TATGTGTATATATATATGTATATATATATACACATATATATACACACATA TATATACACACACACACATAATACATATATATATTATATACATATATATG TATTATATATATGTATATATATTATATACATATATATGTATTATATATAT GTATATATATTATATACATATATATGTATTATATATATGTATATATATTA TATACATATATATGTATTATATATATGTATATATATTATATACATATATA TGTATTATATATATGTATATATATTATATACATATATATGTATTATATAT ATGTATATATATTATATACATATATATGTATTATATATATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(719): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCC TCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC TCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCC TTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	312	0.0032	726	c.306 others(745): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCC TCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(719): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCC CTTCCTCTCCTTCTCTCCTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01074.hp2 others(6): Show HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 NA18962.hp1 NA19002.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0308 a0002c0002t0003g0302 a0002c0002t0003g0303 others(6): Show a0002c0002t0002g0308 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0305 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0309 a0002c0002t0003g0310	9	312	0.0289	726	c.306 others(745): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT CCTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(719): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGAAGGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGGGTGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGGA GAGGAGGGAAGGAAGGGGGGAGAGGAGAGAAGGAAGGGGGAGAGGAGGGA AGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGG GGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAG GGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGTGGGAGAGG AGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGG AAGGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAG GGAGGGAGGAAGGAAGGAAGCAAGCAAGCAAGCAAAGCTGCTCAGAAACT AACTTCAGGAAGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGGAG GGAGGGAAGGAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGG AGGGAAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19240.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0027 a0001c0003 a0001c0027	a0001c0003t0029 a0001c0027t0028 a0001c0003t0029 a0001c0027t0028	a0001c0003t0029g0048 a0001c0027t0028g0049 a0001c0003t0029g0048 a0001c0027t0028g0049	2	62	0.0323	726	c.88+ others(745): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGTTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTCCCTC CCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCCT TCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCC TCCTCTCCCACCTTCCTTTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCC CCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCC CTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCACTTCCTTCCCTCCTCTC CCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCC TTCCCTCCTCTCCCCCTTCCTTCTCTCCTCTCCCCCCTTCCTTCCCTCCT CTCCCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCACCCCT TCCTTCCCTCCTCTCTGCCCTTCCTTCCTTCCCTCGTCTCTGCCCTTCCT TCCTTCCCTCCTCTCTGCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCC TCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(719): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	295	0.0034	726	c.809 others(743): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(719): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGTGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0052 a0001c0004t0003g0052	1	295	0.0034	726	c.809 others(743): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGTGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467526	G G	GTCAGGGA others(719): Show GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19004.hp2 NA18984.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0051 a0001c0001t0008 a0001c0001t0051	a0001c0001t0008g0065 a0001c0001t0051g0064 a0001c0001t0008g0065 a0001c0001t0051g0064	2	295	0.0068	726	c.809 others(743): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468030	G G	GTCAGGGA others(719): Show GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGAGGCCTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGACGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp2 HG01106.hp1 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0037 a0001c0002t0019g0285 a0001c0002t0019g0037 a0001c0002t0019g0285	2	295	0.0068	726	c.809 others(743): Show c.809-3250_809-3249insTGGGGCGTCAGGGAGGAGGTGCTGAGGC CTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGACGTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAC2_chr22_37220270_37249269	37227454	G G	GCCCTCCT others(719): Show GCCCTCCTGTGCCATACACACCCCTCCCACGCCATACACCCCCTCCCACG CCTCCCACACCATACACCCCTCCCACACCATACACCCCTCCCACGCCTCC CACACCATACAAGCCCCTCCCGTGCCATACACCCCTCCCACAGCATATAA CCCCTCCCACGCCATAAAACCCCTCTCACACCATACACCCCCCTCCCACA CCTCCCACGCCATACAACCCCTCTCACACCATACACCGCTCCCATGCCAT ACACCCCTCCCACTGCCTCCCACGCCATACAACCCTCCAATGACATACAG CCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACCCTCCCACGTCA TACACCCCCTCCCACGTCATACATCCCCTCCCATGCCTCCCACACCATAC AACCCCTCCCACGCCATACACCCCTCCCACGCCATACCACCCCTCCCACG CCATACACCCTCCCATGCCATACACCCCTCCCATGCCATACACCCCTCCC ACGCCATACACCCCTCCCACGCCATACACCCTCCCATGCCATACACCCCT CCCATGCCATACACCCCTCCCACGCCATACAACCCTCCCACGCCATACAC CCTCCCACGCCATACACCCCTCCCAAGCCATACACCCCTCCCATGTCTCC CACGCCATACAAGCCCTCCTGTGCCATACACCCCTCCCATTGCCATACAT CCCTCCCACGCCTCCCATGCCATACAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	448	0.0022	726	c.449 others(741): Show c.449-652_449-651insGTGTATGGCATGGGAGGCGTGGGAGGGATG TATGGCAATGGGAGGGGTGTATGGCACAGGAGGGCTTGTATGGCGTGGGA GACATGGGAGGGGTGTATGGCTTGGGAGGGGTGTATGGCGTGGGAGGGTG TATGGCGTGGGAGGGTTGTATGGCGTGGGAGGGGTGTATGGCATGGGAGG GGTGTATGGCATGGGAGGGTGTATGGCGTGGGAGGGGTGTATGGCGTGGG AGGGGTGTATGGCATGGGAGGGGTGTATGGCATGGGAGGGTGTATGGCGT GGGAGGGGTGGTATGGCGTGGGAGGGGTGTATGGCGTGGGAGGGGTTGTA TGGTGTGGGAGGCATGGGAGGGGATGTATGACGTGGGAGGGGGTGTATGA CGTGGGAGGGTGTATGGCACAGGAGGGGTTGTATGGCGTAGGAGGGGCTG TATGTCATTGGAGGGTTGTATGGCGTGGGAGGCAGTGGGAGGGGTGTATG GCATGGGAGCGGTGTATGGTGTGAGAGGGGTTGTATGGCGTGGGAGGTGT GGGAGGGGGGTGTATGGTGTGAGAGGGGTTTTATGGCGTGGGAGGGGTTA TATGCTGTGGGAGGGGTGTATGGCACGGGAGGGGCTTGTATGGTGTGGGA GGCGTGGGAGGGGTGTATGGTGTGGGAGGGGTGTATGGTGTGGGAGGCGT GGGAGGGGGTGTATGGCGTGGGAGGGGTGTGTATGGCACAGGAGGG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RIN3_chr14_92508781_92693994	92640424	A A	ATTTGCTG others(719): Show ATTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACT GTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGA CTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCT GACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGC CTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCT GCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGG CTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGG GGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCG GGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGCTCGT CAGAGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTC ATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTC GTCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGC TCGTCAGAGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGT GTTCATCGGGGGCTGCCTGACTGTGCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0222 a0001c0001t0008g0222	1	334	0.0030	726	c.441 others(741): Show c.441-528_441-527insTTCATCGGGGGCTGCCTGACTGTGCGTTTG CTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGTGCGTT TGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGTGCG TTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGTG CGTTTGCTGGGAGATGCCTGACTGTGTGCTCGTCAGAGGCTGCCTGACTG TGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGAC TGCATTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGCCTGAC TGTGCGTTTGCTGGGAGATGCCTGACTGTGTGCTCGTCAGAGGCTGCCTG ACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCC TGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTG CCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGC TGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGG GCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGG GGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATC GGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(719): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATATTCCATATAT ATATATATTCCATATATATATATATATTCCATATATATATATATTCCATA TATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	324	0.0031	726	c.115 others(743): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT ATGGAATATATATATATATGGAATATATATATATATATGGAATATATATA TATATGGAATATATATATATATATGGAATATATATATATATGGAATATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(719): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0107 a0001c0001t0020g0107	1	150	0.0067	726	c.77- others(743): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTC CCCTCCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(719): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0112 a0001c0001t0017g0112	1	158	0.0063	726	c.22+ others(743): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTC CCCTCCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	431834	T T	TGGCGCTT others(719): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGG CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGTGC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATA GATGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCTG GGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAG GCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGT TAGAGGAGGCCAGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGA GTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATA GTGAGTGAGAGATAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0186 a0001c0023t0007g0186	1	212	0.0047	726	c.111 others(745): Show c.1111-1088_1111-1087insGCCCGGCCTCCTCTATCTCTCACTCA CTATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCTGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGC CCAGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGTGCCAT CTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGA AGCACCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACT CACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAA CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCC TCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCT GCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(719): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATATAA ATATAAATATATTATATATTATATAAATATAAATATATTATATATAATAT ATAATATAAATATATTATATATAATATATAATATAAATATATTATATATA ATATATATAATATATATATTATATATAATATATATAATATATATATTATA TATATTATATATATTATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATAATATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATATAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0191 a0001c0001t0008g0191	1	346	0.0029	726	c.-70 others(743): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATATTATATATAATATATTTATATTATATATAATATATATAATATAT ATAATATATATATTATATATATTATATATAATATATATATTATATATATT ATATATAATATATTTATATTATATATTATATATAATATATTTATATTATA TATTATATATAATATATTTATATTTATATAATATATAATATATTTATATT TATATATAATATATAATATATTTATATTTATATATAATATATATAATATA TTTATATTTATGTATAATATATATAATATATTTATATTTATGTATAATAT ATATAATATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(719): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAAATATA TTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	302	0.0033	726	c.12+ others(741): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPAAR_chr9_35904490_35916686	35914071	T T	TGTGTGTG others(719): Show TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTA AGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGT GGTGTGTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	726	c.33 others(737): Show c.3380_*3381insGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTATTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTGTTTGTATGC TGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGT GTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2386		chr9	TogoVar
SPATA6_chr1_48290373_48477204	48384351	A A	AGGGAGAG others(719): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0182 a0001c0001t0024g0182	1	322	0.0031	726	c.909 others(741): Show c.909+957_909+958insCTCTCCCCTCCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCC CTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(719): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02080.hp2 NA18973.hp2 HG02074.hp2 HG02080.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0002g0057 a0001c0002t0001g0155 a0001c0001t0001g0002 a0001c0001t0002g0057 a0001c0002t0001g0155	3	422	0.0071	726	c.64 others(737): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCC CCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(719): Show CTATTATATATATAATATACCTATTATATATATAATATACCTATTATATA TATAATATACCTATTATATATATAATATACCTATTATATATATAATATAC CTATTATATATAATATACCTATTATATATAAAATATACCTATTATATATA ATATACCTATTATATGCATTATATATAATATACCTATTATATGCATTATA TATAATATACCTATTATATGCATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATAATATATTATATAT AATATGCATATTATATGTATTATATATTATATATTATATATATAATATAC ATATTATATGTATTATATATAATATATTATATATATAATATACATATTAT ATGTATTATATATTATATATAATATACATATTATATATTATATATTATAT ACATATTATATATTATATATTATATACATATTATATATTATATATTATAT ACATATTATATATTATATACATATTATATATTATATATTATATACATATT ATACATTATATATATCTAAAATATATAATACACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18906.hp1 HG01109.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0170 a0001c0004t0004g0171 a0001c0004t0004g0170 a0001c0004t0004g0171	2	360	0.0056	726	c.62 others(737): Show c.6215_*6216insTATAATGTGTATTATATAATATATAATGTGTATT ATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATAT AATATATAATGTGTATTATATATTTTAGATATATATAATGTATAATATGT ATATAATATATAATATATAATATGTATATAATATATAATATGTATATAAT ATATAATATATAATATGTATATAATATATAATATATAATATGTATATAAT ATATAATATATAATATGTATATTATATATAATATATAATACATATAATAT GTATATTATATATATAATATATTATATATAATACATATAATATGTATATT ATATATATAATATATAATATATAATACATATAATATGCATATTATATATA ATATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAAT AGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCATA TAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATG CATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATAT AATAGGTATATTTTATATATAATAGGTATATTATATATAATAGGTATATT ATATATATAATAGGTATATTATATATATAATAGGTATATTATATATATAA TAGGTATATTATATATATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747875	A A	GCTGGGGT others(719): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAAAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0150 a0001c0001t0080g0150	1	314	0.0032	726	c.189 others(741): Show c.189-452_189-451insGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(719): Show CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCCTCCCCTCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCTCTCCCCTCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCC CTCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCTCCCCTCCCCTCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCC CCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCC CTCTCCCCTCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0058 a0003c0003t0003g0058	1	114	0.0088	726	c.-25 others(745): Show c.-25-12108_-25-12107insCCCTCTCCCCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCC CCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTC TGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCCTCCCCTCCCC CTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCTCTCCCCTCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCT CCCCTCCCCCTCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCTCCC CTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTTCCC CTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTC TCCCCTCCCCTCTCCCCTCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(719): Show CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTC CCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0005 a0001c0004t0002g0005	1	114	0.0088	726	c.-25 others(745): Show c.-25-12108_-25-12107insCCCTCTCCCCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCC CCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTC TGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCC CTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCC CTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(719): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACCACACACACAACACCACACACCACACACACACCACCACACAC CACCACACACCACACACACCACCACACACACACCACCACACACACACCAC ACACCACACACACATACACCACCACACACCACCACACACACCACACACAC AACACACACCACCACACACCACACACACCACCACACACACCACCACACAC ACACCACACACCATACACACACTACCACACACCACCACACACCACCACAC ACACACCACACACACAGCACCACACACACACCACCACACACAACACACAC CACACACACCACCACACACATACCACCACACACACCACCACACACATACA CACCACACCACCACCACATACATACACACCACACACCACCACACACATAC ACACCACACACCACACACATACACACCACACACACTACCACCGCATACAT ACACACCACACACGCCACCACATACATACCACACACACATACACACCACC CACACACCACCACACACACCACCACCACACACACACACCACACACACCAC CACACACACACCACCACATACATACACACCACACACATACCACCACACAC ACACCATCACGCACACCACCACATACACACACCACAGACATACCACACAC ATACCATCACACACCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG03516.hp2 HG02647.hp2 HG02717.hp2 HG03516.hp2	a0003 a0016 a0044 a0003 a0016 a0044	a0003c0060 a0016c0044 a0044c0069 a0003c0060 a0016c0044 a0044c0069	a0003c0060t0008 a0016c0044t0051 a0044c0069t0006 a0003c0060t0008 a0016c0044t0051 a0044c0069t0006	a0003c0060t0008g0217 a0016c0044t0051g0016 a0044c0069t0006g0006 a0003c0060t0008g0217 a0016c0044t0051g0016 a0044c0069t0006g0006	3	244	0.0123	726	c.537 others(743): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGTGTG TGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTGTGG TGGTGTGTGTGGTGTGTGTGTGTGGTGGTGGTGTGTGTGGTGGTGTGTGG GTGGTGTGTATGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGTGTGTA TGTATGCGGTGGTAGTGTGTGTGGTGTGTATGTGTGTGGTGTGTGGTGTG TATGTGTGTGGTGGTGTGTGGTGTGTATGTATGTGGTGGTGGTGTGGTGT GTATGTGTGTGGTGGTGTGTGTGGTGGTATGTGTGTGGTGGTGTGTGTGG TGTGTGTTGTGTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGTGGTGTGTG TGTGGTGGTGTGTGGTGGTGTGTGGTAGTGTGTGTATGGTGTGTGGTGTG TGTGTGGTGGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGTTG TGTGTGTGGTGTGTGTGGTGGTGTGTGGTGGTGTATGTGTGTGTGGTGTG TGGTGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGG TGTGTGGTGGTGTGTGTGTGGTGTGTGGTGTTGTGTGTGTGGTGTGTGTG GTGGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TPO_chr2_1408463_1548673	1478427	T T	TTTTTTTT others(719): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTATTTATTTATTTATTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTCCCCCGTCCCCACCACAGTCCCCAGAGTGTGATATTCCCCT TCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAAT ATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGT TTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTA TGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAG TCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAA TAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATT TATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGT ATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGG TTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTC CACATCCTCTCCAGCACCTGTTGTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0062 a0002c0002t0009g0062	1	130	0.0077	726	c.133 others(743): Show c.1338+823_1338+824insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTATTTATTTATTTATTTTTATTATACTC TAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATA CATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAG GTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGTCCCCACCACAGTC CCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAA TTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGA TAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGG ATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATG TGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTT CCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATG TGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAAT GGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCG CCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGT GTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16			chr2	TogoVar
UBE2J2_chr1_1248912_1278854	1248971	G G	GCGAGGGA others(719): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	324	0.0031	726	c.62 others(737): Show c.6231_*6232insGTCTAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4940		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(719): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01993.hp2 HG03669.hp1 others(2): Show HG01975.hp2 HG01993.hp2 HG03669.hp1 NA18943.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0259 a0001c0001t0001g0290 a0001c0003t0001g0269 others(2): Show a0001c0001t0001g0259 a0001c0001t0001g0290 a0001c0003t0001g0269 a0001c0003t0002g0137 a0001c0003t0002g0161	5	324	0.0154	726	c.61 others(737): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
VCX3B_chrX_8459830_8471510	8467389	A A	AATAGGTG others(719): Show AATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0004 a0005c0010t0003g0004	1	271	0.0037	726	c.10 others(737): Show c.1006_*1007insATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		880		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(719): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0311 a0006c0008t0003g0311	1	326	0.0031	726	c.483 others(741): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCC TCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT GCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT TCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(719): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTAAATATATAAATTATATAATATATATTATATAT TGTATATTATATAATTTATATAATATATTATATGTTATATAATATATATT ATATATTGTATATATTATATTATATATTATATATTTTATATATCATATAT AGTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATAT TTTTATATATTATATAGTATACTATATAATATATATTTTTATATATTATA TATAATATATATAATTATATATCATATATATTTATATAATATATGATATA TAATATATAATATATATTATGTATTATATAATTATATAAAATATATCATA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTACATATTATAAATA ATATATTATATATTATATTACATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTATAAATAATATATTA TATATTATAAATAATATATTATATATTATATTATAAATAATATATATTAT AAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18950.hp2 NA18961.hp1 others(5): Show NA18947.hp1 NA18950.hp2 NA18961.hp1 NA18977.hp2 NA19004.hp2 NA19010.hp2 NA19074.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0054 a0001c0001t0001 a0001c0001t0008 a0001c0001t0054	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0008g0018 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0008g0018 a0001c0001t0008g0022 a0001c0001t0008g0024 a0001c0001t0008g0026 a0001c0001t0008g0028 a0001c0001t0054g0021	8	302	0.0265	726	c.-1- others(743): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTAAATATATAAATTATAT AATATATATTATATATTGTATATTATATAATTTATATAATATATTATATG TTATATAATATATATTATATATTGTATATATTATATTATATATTATATAT TTTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTAT ATAGTATACTATATATTTTTATATATTATATAGTATACTATATAATATAT ATTTTTATATATTATATATAATATATATAATTATATATCATATATATTTA TATAATATATGATATATAATATATAATATATATTATGTATTATATAATTA TATAAAATATATCATATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTACATATTATAAATAATATATTATATATTATATTACATATTATAAATAA TATATTATATATTATATTATATATTATAAATAATATATTATATATTATAT TATAAATAATATATTATATATTATAAATAATATATTATATATTATATTAT AAATAATATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 8931 hits)