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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
YBEY_chr21_46281342_46302751	46293822	G G	GACTCTAG others(511): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGG AGTCAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	404	0.0025	518	c.340 others(535): Show c.340-2275_340-2274insGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG AAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGT GAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294036	A A	ACAAGTTA others(511): Show ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGA CTCAGTGGGGACAGCCACG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	404	0.0025	518	c.340 others(535): Show c.340-2119_340-2118insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294192	A A	AACTCTAG others(511): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	404	0.0025	518	c.340 others(535): Show c.340-1915_340-1914insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294304	G G	GTGCCCGG others(511): Show GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0283 a0001c0001t0006g0283	1	404	0.0025	518	c.340 others(535): Show c.340-1841_340-1840insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294304	G G	GTGCCCGG others(511): Show GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	404	0.0025	518	c.340 others(535): Show c.340-1841_340-1840insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294332	G G	GCAAGTTA others(511): Show GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	404	0.0025	518	c.340 others(535): Show c.340-1711_340-1710insATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294414	A A	AACTCTAG others(511): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	404	0.0025	518	c.340 others(535): Show c.340-1693_340-1692insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294472	A A	ACAGCCAC others(511): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTC GGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	404	0.0025	518	c.340 others(535): Show c.340-1675_340-1674insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT GGAGTCGGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294546	T T	TCAGCCAC others(511): Show TCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	404	0.0025	518	c.340 others(535): Show c.340-1601_340-1600insGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(511): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18987.hp1 NA18968.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0119 a0001c0001t0001g0037 a0001c0001t0001g0119	2	404	0.0050	518	c.340 others(535): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(511): Show GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	404	0.0025	518	c.340 others(535): Show c.340-1461_340-1460insACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(511): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	404	0.0025	518	c.340 others(535): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(511): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTA TATATGCATATATATACATATGTATATATGCATATATATACATATGTGTA TATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	165	0.0061	518	c.-15 others(539): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTATATATGCATATATATACATATGTATATATGCATATATATACATAT GTGTATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(511): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATCATATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATCACAT ATATGATATATATATCATATATATCATATGATATATATCATATATATCAC ATATATGATATATATCACATGTGATATATAGCATATATATCATGCTATAC ATCATATATGATATATATGATATATATCACGTATGCTATATAGCATATGT GATATATATGATATATATCACATATGCTATATAGCATATGTGATATATAT GATATATATCACATATGCTATATAGCATATGTGATATATATGATATATAT CACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	350	0.0029	518	c.-36 others(529): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATCAT ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATCACATATATGATATATATATCATATATATCATATGATATA TATCATATATATCACATATATGATATATATCACATGTGATATATAGCATA TATATCATGCTATACATCATATATGATATATATGATATATATCACGTATG CTATATAGCATATGTGATATATATGATATATATCACATATGCTATATAGC ATATGTGATATATATGATATATATCACATATGCTATATAGCATATGTGAT ATATATGATATATATCACATATGCTATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF468_chr19_52833010_52862619	52853587	G G	GGGCTGAG others(511): Show GGGCTGAGGCAGGAGAATCACTTCAACCTGGGAGACAGAGGTTGCAATAA GTTGAGATCATGCCACTGCACTGCAGCCTGGGCAACAAAGCAAGACTCCG TTTCAAAAAATAATAATAATAATAATAGGTGGAATGAGAATACGGCTTTC TCCTCTAGGATAAAAAAGAAGTACTGCTCCCATATTTGAGAAAAATTGTA ACCATTTTTACCAAAAGCCTGTTTCACAAGCCTCTCCACAGTAACACCCT GTCTCCATCAGCTTAATGTGCTAAGAATGGTTGAATGAATCTCCTGCTAT GATTTACGTTGATTTCCTATTCTTAAAATAATGAAGGAATAGGCCGGGCA CAGTGACTGATGCCTGTAATCCTAGCACTTTAGGAGGCCAAGGTGGGCAA ATCACGTGAGGTCTGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACC CCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCACGCCTG TAATCCCAGCTACTCGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(92): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18989.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19062.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0011 a0013 a0014	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0008 a0004c0020 a0011c0015 a0013c0024 a0014c0022	a0001c0001t0001 a0002c0002t0002 a0002c0002t0013 others(12): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0041 a0003c0003t0006 a0003c0003t0010 a0004c0004t0004 a0004c0004t0014 a0004c0004t0024 a0004c0004t0032 a0004c0008t0004 a0004c0020t0004 a0011c0015t0004 a0013c0024t0001 a0014c0022t0010	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0026 others(63): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0260 a0001c0001t0001g0261 a0002c0002t0002g0228 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0259 a0002c0002t0013g0060 a0002c0002t0041g0258 a0003c0003t0006g0049 a0003c0003t0006g0219 a0003c0003t0006g0220 a0003c0003t0006g0221 a0003c0003t0006g0222 a0003c0003t0006g0225 a0003c0003t0006g0226 a0003c0003t0006g0227 a0003c0003t0006g0229 a0003c0003t0006g0230 a0003c0003t0006g0253 a0003c0003t0010g0028 a0003c0003t0010g0054 a0003c0003t0010g0250 a0004c0004t0004g0007 a0004c0004t0004g0011 a0004c0004t0004g0044 a0004c0004t0004g0046 a0004c0004t0004g0047 a0004c0004t0004g0129 a0004c0004t0004g0189 a0004c0004t0004g0192 a0004c0004t0004g0203 a0004c0004t0004g0205 a0004c0004t0004g0207 a0004c0004t0004g0209 a0004c0004t0004g0210 a0004c0004t0004g0255 a0004c0004t0004g0256 a0004c0004t0004g0257 a0004c0004t0014g0178 a0004c0004t0014g0179 a0004c0004t0014g0180 a0004c0004t0024g0076 a0004c0004t0032g0217 a0004c0008t0004g0218 a0004c0008t0004g0224 a0004c0008t0004g0249 a0004c0020t0004g0223 a0011c0015t0004g0208 a0013c0024t0001g0125 a0014c0022t0010g0251	95	426	0.2230	518	c.15+ others(531): Show c.15+670_15+671insTCCCGAGTAGCTGGGATTACAGGCGTGCACCA CCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGT TGGTCAGACTGGTCTCAAACTCCAGACCTCACGTGATTTGCCCACCTTGG CCTCCTAAAGTGCTAGGATTACAGGCATCAGTCACTGTGCCCGGCCTATT CCTTCATTATTTTAAGAATAGGAAATCAACGTAAATCATAGCAGGAGATT CATTCAACCATTCTTAGCACATTAAGCTGATGGAGACAGGGTGTTACTGT GGAGAGGCTTGTGAAACAGGCTTTTGGTAAAAATGGTTACAATTTTTCTC AAATATGGGAGCAGTACTTCTTTTTTATCCTAGAGGAGAAAGCCGTATTC TCATTCCACCTATTATTATTATTATTATTTTTTGAAACGGAGTCTTGCTT TGTTGCCCAGGCTGCAGTGCAGTGGCATGATCTCAACTTATTGCAACCTC TGTCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCC	ZNF468	ENSG00000204604.13	transcript	ENST00000595646.6	protein_coding	2/3			chr19	TogoVar
ZNF468_chr19_52833010_52862619	52853587	G G	GGGCTGAG others(511): Show GGGCTGAGGCAGGAGAATCACTTCAACCTGGGAGACAGAGGTTGCAATAA GTTGAGATCATGCCACTGCACTGCAGCCTGGGCAACAAAGCAAGACTCCG TTTCAAAAAATAATAATAATAATAATAGGTGGAATGAGAATACGGCTTTC TCCTCTAGGATAAAAAAGAAGTACTGCTCCCATATTTGAGAAAAATTGTA ACCATTTTTACCAAAAGCCTGTTTCACAAGCCTCTCCACAGTAACACCCT GTCTCCATCAGCTTAATGTGCTAAGAATGGTTGAATGAATCTCCTGCTAT GATTTACGTTGATTTCCTATTCTTAAAATAATGAAGGAATAGGCCGGGCA CAGTGACTGATGCCTGTAATCCTAGCACTTTAGGAGGCCAAGGTGGGCAA ATCACGTGAGGTCTGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACC CCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTG TAATCCCAGCTACTCGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp2 others(6): Show HG01070.hp1 HG01071.hp2 HG01884.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0009	a0002c0002 a0003c0003 a0006c0007 others(1): Show a0002c0002 a0003c0003 a0006c0007 a0009c0013	a0002c0002t0002 a0002c0002t0023 a0003c0003t0006 others(3): Show a0002c0002t0002 a0002c0002t0023 a0003c0003t0006 a0006c0007t0015 a0006c0007t0026 a0009c0013t0019	a0002c0002t0002g0055 a0002c0002t0023g0058 a0003c0003t0006g0128 others(3): Show a0002c0002t0002g0055 a0002c0002t0023g0058 a0003c0003t0006g0128 a0006c0007t0015g0036 a0006c0007t0026g0062 a0009c0013t0019g0035	9	426	0.0211	518	c.15+ others(531): Show c.15+670_15+671insTCCCGAGTAGCTGGGATTACAGGCATGCACCA CCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGT TGGTCAGACTGGTCTCAAACTCCAGACCTCACGTGATTTGCCCACCTTGG CCTCCTAAAGTGCTAGGATTACAGGCATCAGTCACTGTGCCCGGCCTATT CCTTCATTATTTTAAGAATAGGAAATCAACGTAAATCATAGCAGGAGATT CATTCAACCATTCTTAGCACATTAAGCTGATGGAGACAGGGTGTTACTGT GGAGAGGCTTGTGAAACAGGCTTTTGGTAAAAATGGTTACAATTTTTCTC AAATATGGGAGCAGTACTTCTTTTTTATCCTAGAGGAGAAAGCCGTATTC TCATTCCACCTATTATTATTATTATTATTTTTTGAAACGGAGTCTTGCTT TGTTGCCCAGGCTGCAGTGCAGTGGCATGATCTCAACTTATTGCAACCTC TGTCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCC	ZNF468	ENSG00000204604.13	transcript	ENST00000595646.6	protein_coding	2/3			chr19	TogoVar
ZNF468_chr19_52833010_52862619	52853587	G G	GGGCTGAG others(511): Show GGGCTGAGGCAGGAGAATCACTTCAACCTGGGAGACAGAGGTTGCAATAA GTTGAGATCATGCCACTGCACTGCAGCCTGGGCAACAAAGCAAGACTCCG TTTCAAAAAATAATAATAATAATAATAGGTGGAATGAGAATACGGCTTTC TCCTCTAGGATAAAAAAGAAGTACTGCTCCCATATTTGAGAAAAATTGTA ACCATTTTTACCAAAAGCCTGTTTCACAAGCCTCTCCACAGTAACACCCT GTCTCCATCAGCTTAATGTGCTAAGAATGGTTGAATGAATCTCCTGCTAT GATTTACGTTGATTTCCTATTCTTAAAATAATGAAGGAATAGGCCGGGCA CAGTGACTGATGCCTGTAATCCTAGCACTTTAGGAGGCCAAGGTGGGCAA ATCCCGTGAGGTCTGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACC CCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCACGCCTG TAATCCCAGCTACTCGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0202 a0004c0004t0004g0202	1	426	0.0024	518	c.15+ others(531): Show c.15+670_15+671insTCCCGAGTAGCTGGGATTACAGGCGTGCACCA CCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGT TGGTCAGACTGGTCTCAAACTCCAGACCTCACGGGATTTGCCCACCTTGG CCTCCTAAAGTGCTAGGATTACAGGCATCAGTCACTGTGCCCGGCCTATT CCTTCATTATTTTAAGAATAGGAAATCAACGTAAATCATAGCAGGAGATT CATTCAACCATTCTTAGCACATTAAGCTGATGGAGACAGGGTGTTACTGT GGAGAGGCTTGTGAAACAGGCTTTTGGTAAAAATGGTTACAATTTTTCTC AAATATGGGAGCAGTACTTCTTTTTTATCCTAGAGGAGAAAGCCGTATTC TCATTCCACCTATTATTATTATTATTATTTTTTGAAACGGAGTCTTGCTT TGTTGCCCAGGCTGCAGTGCAGTGGCATGATCTCAACTTATTGCAACCTC TGTCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCC	ZNF468	ENSG00000204604.13	transcript	ENST00000595646.6	protein_coding	2/3			chr19	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(512): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGATAAATGGGTGGGTGGAATGGATAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAA TGAGTGGGTGGGATGGCTAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0012 a0001c0055t0012	a0001c0055t0012g0163 a0001c0055t0012g0163	1	357	0.0028	519	c.278 others(536): Show c.2787+965_2787+966insTTAGCCATCCCACCCACTCATTTAGCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTATCCATTCCACCCACCCATTTATCCATCCCACCCACCCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACT CATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATC CATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCAT TTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCA CCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(512): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 NA18985.hp2 HG02135.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	519	c.-10 others(530): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1327002	T T	TGCCCAGC others(512): Show TGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCC CCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCACAGCGC CTCACTGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCG CCTCCCCACTGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCC AGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACT GCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCCCAGCGCCTCCC CACTGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCCAGCGCC TCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAG CGCCTCCCCACGGCACAGCGCCTCCCCACTGCACAGCGCCTCCCCACTGC CCAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCA CTGCCCAGCGCCTCCCCACG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	106	0.0094	519	c.107 others(540): Show c.1077+36025_1077+36026insCGTGGGGAGGCGCTGGGCAGTGGG GAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAG TGGGGAGGCGCTGTGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGG GCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCG CTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCAGTGGGGA GGCGCTGGGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTG GGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGC CGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCT GTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCAGTGAGGCGC TGTGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAG GCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
AGAP1_chr2_235489043_236136793	235803012	T T	TGTGATGG others(512): Show TGTGATGGTGATGGTGATGGCTGTGGTGATGATGGTTGTGATGGTGGTGA TGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATTGTGGTTGTGATG GTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGATGGTGATGATGCT GGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGGTTGTGG TGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTTGTGATGATGGTT GTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGGT GGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATTG TGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTGATGGTGATG ATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATGGTTGTGGTGAT GGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTGA TGGTGATGATGGTTGTGATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG00741.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0037 a0001c0006t0046 a0001c0006t0037 a0001c0006t0046	a0001c0006t0037g0021 a0001c0006t0046g0040 a0001c0006t0037g0021 a0001c0006t0046g0040	2	98	0.0204	519	c.957 others(536): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHRR_chr5_316714_443285	344503	G G	TGTGTGTG others(512): Show TGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGCGGTATGTGTGAG GCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC GGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCT GTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTG TGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGT GTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGT GTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGC TGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGC TGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGG GGGGAGCTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	268	0.0037	519	c.62+ others(532): Show c.62+538_62+539insTGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGCGGTATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTG TGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGG GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10			chr5	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(512): Show CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCC CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0235 a0002c0005t0001g0235	1	274	0.0037	519	c.512 others(536): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCGTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCCCTCCTCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATF1_chr12_50759101_50826162	50809029	T T	TGACTGGC others(512): Show TGACTGGCCCGATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAG TCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCT CAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTG TCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGG TGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	382	0.0026	519	c.195 others(534): Show c.195-411_195-410insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAA AAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATT TCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCA TTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACG GGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGGACTGGCCCGATTATT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374952	G G	GAGGGAGG others(512): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	184	0.0054	519	c.784 others(534): Show c.784-502_784-501insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	279077	A A	AGGGCGGG others(512): Show AGGGCGGGACGGAGGGAGGGCGGGAGGGGCGGGGAGGGCGGGACGGAGGG AGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAG GGAGGGAGGGACGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGG AGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGAGGGCGGGACAGAG GGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGG AGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGCGGGAGGG CGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAG GGCGGGGAGGGCGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	410	0.0024	519	c.465 others(532): Show c.465+94_465+95insGCCCTCCCGCCCTCCCCGCCCTCCCTCCGTCC CGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCGCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCC GTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCT CCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCC CTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCCTCCCT CCCTCTGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC CGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCCGCCCCTCCCGCCCTCCCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CCDC6_chr10_59783747_59911556	59882498	G G	GGGGGAGA others(512): Show GGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	288	0.0035	519	c.303 others(538): Show c.303+23623_303+23624insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCT CCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	420717	A A	AATACACA others(512): Show AATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGCGAGAGGGTAAACACACATAGCAGCACCCTCCATG TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCC ATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	432	0.0023	519	c.413 others(536): Show c.413+2082_413+2083insTACACACATAGCAGCACCCTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGCGAGAGGGTAAACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATT ACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACAT AGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATA GCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACAGT GCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(512): Show CACTATATATAGTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTAGTTATATATACACTATATAATAGTTATATATAC TACATATACACTATATATAGTAGTTATATATACTATATATACACTATATA TAGTAGTTATATATACTATATATACACTATATATAGTTTATATATACTAT ATATACACTATATATAGTAGTTATATATACTACTATATATACTACTATAT ATAGTATATACTATATATACACTATATATAGTAGTTATATATACTACTAT ATATACTACTATATATAGTATATACTATATATACACTATATATAGCATAT ATACTATATATACACTATATATAGTAGTTATATATACTATATATACACTA TACATACACTATATATAGTTTATATATACTATATATAGTAGTTATATATA CTATATATACTATATATAGTTTATATATAAACTATATATACTATATATAG TTTATATATAAACTATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG01106.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0100 a0001c0001t0020g0042 a0001c0001t0008g0100 a0001c0001t0020g0042	2	396	0.0051	519	c.349 others(534): Show c.349+940_349+941insTATATACACTATATATAGTAGTTATATATA CTATATATACACTATATATAGTAGTTATATATACACTATATAATAGTTAT ATATACTACATATACACTATATATAGTAGTTATATATACTATATATACAC TATATATAGTAGTTATATATACTATATATACACTATATATAGTTTATATA TACTATATATACACTATATATAGTAGTTATATATACTACTATATATACTA CTATATATAGTATATACTATATATACACTATATATAGTAGTTATATATAC TACTATATATACTACTATATATAGTATATACTATATATACACTATATATA GCATATATACTATATATACACTATATATAGTAGTTATATATACTATATAT ACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTA TATATACTATATATACTATATATAGTTTATATATAAACTATATATACTAT ATATAGTTTATATATAAACTATATATACTATATATAGTA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(512): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCTCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	256	0.0039	519	c.-45 others(540): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCTCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(512): Show CCCCCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	256	0.0039	519	c.-45 others(540): Show c.-455+14580_-455+14581insTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCC CCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278744	C C	CCTCCCCT others(512): Show CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	256	0.0039	519	c.-45 others(540): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(512): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCC CACTTCCCCCTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCC TACTCCCCCTCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTC CCCCTTCCCACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCT ACTCCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCC CTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCT CCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCC CCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTC TCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCA CTCCCTCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0056	1	194	0.0052	519	c.75- others(536): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCAC TTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCTT CCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCCA CTCCCCCCTTCCCCCTTCCTACTCCCCCTTCTCCCTCTTCCTACTTTCTA CTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTA CTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTAC TCCCCACTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCT CTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTC TCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(512): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCTTCTTTCTTCCCTCC TGCCTTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTC CCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCT CCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCC CTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTC CTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA19070.hp1 NA18957.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0014 a0003c0004t0007g0018 a0003c0004t0007g0014 a0003c0004t0007g0018	2	354	0.0057	519	c.69 others(530): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC TTCTTTCTTCCCTCCTGCCTTCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTC CTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251534	A A	ATAAAATA others(512): Show ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATA TAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAAT ATATAAAATATTTTATTTAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	402	0.0025	519	c.80- others(534): Show c.80-4974_80-4973insAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLPTM1L_chr5_1312752_1350099	1333490	A A	AGATGAGG others(512): Show AGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGTATAC ACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGAT GAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGGACTACTGTATACACACCGGATGAG GATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTA CTGTATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGAC TACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACC AGATGAAGATAAGGGGGACTACTGTATACACACCAGATGAGGATAAGGGG GGACTACTGTACACACACGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 HG02280.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0347 a0001c0001t0006g0348	2	370	0.0054	519	c.891 others(534): Show c.891+798_891+799insCCGTGTGTGTACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAGTAGTCCCCCTTATCTTCATCTGGTGTGTATA CAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTT ATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGT GTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCC TTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGT GTGTATACAGTAGTCCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCC CGTGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTA GTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCT CATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(512): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGG AGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGA CGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0036 a0036	a0036c0100 a0036c0100	a0036c0100t0017 a0036c0100t0017	a0036c0100t0017g0121 a0036c0100t0017g0121	1	126	0.0079	519	c.416 others(540): Show c.416-142659_416-142658insCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCC TCCCCGTCCTCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTC CCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(512): Show GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGGCTTCGTCAGTTCACTGGTGAGCCTGCACCGGAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCTGCACCGCAGCAGTTGGCTTCG CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACT GGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01952.hp1 others(15): Show HG00408.hp1 HG00597.hp2 HG01952.hp1 HG02040.hp1 HG02148.hp1 NA18939.hp1 NA18943.hp2 NA18967.hp2 NA18969.hp2 NA18979.hp2 NA18994.hp1 NA18997.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19079.hp1 NA19087.hp1 NA19090.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0001 a0004c0004t0003	a0004c0004t0001g0305 a0004c0004t0001g0308 a0004c0004t0001g0309 others(15): Show a0004c0004t0001g0305 a0004c0004t0001g0308 a0004c0004t0001g0309 a0004c0004t0001g0310 a0004c0004t0001g0311 a0004c0004t0001g0312 a0004c0004t0001g0314 a0004c0004t0001g0315 a0004c0004t0001g0318 a0004c0004t0001g0319 a0004c0004t0001g0320 a0004c0004t0001g0321 a0004c0004t0001g0322 a0004c0004t0001g0323 a0004c0004t0001g0324 a0004c0004t0003g0313 a0004c0004t0003g0316 a0004c0004t0003g0317	18	378	0.0476	519	c.314 others(536): Show c.314+7245_314+7246insAGCCTGCACCGGAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGG TGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGT TGGCTTCTCCAGTTCACTGGTGGGCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCGCAGCAGTT GGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(512): Show GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCTGCACCGCAGCAGTTGGCTTCG CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACT GGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0306 a0004c0004t0001g0306	1	378	0.0027	519	c.314 others(536): Show c.314+7385_314+7386insACTTCGCCAGTTCACTGGTGGGCCTGCA CCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCTGCACCGCAGCAGTT GGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCA GTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687378	T T	TCACTGGT others(512): Show TCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGG GCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCG CAGCAGTTGGCTTCGTCAGTTCACTGGTGAGCCTGCACCGGAGCAGTTGG CTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGT TCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGG GCCTGCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCG GAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCTGCACCGCAGCAGTTGGC TTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTT CACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGG CCTGCACCGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCGC AGCAGTTGGCTTCGTCAGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0307 a0004c0004t0001g0307	1	378	0.0027	519	c.314 others(536): Show c.314+7245_314+7246insAGCCTGCACCGGAGCAGTTGGCTTCTCC AGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGG TGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGT TGGCTTCTCCAGTTCACTGGTGGGCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCGCAGCAGTT GGCTTCGTCAGTGCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(512): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAG GGGAGGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGA AGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0034 a0002c0002t0020g0034	1	216	0.0046	519	c.923 others(538): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCC CTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCC CCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(512): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	367	0.0027	519	c.-42 others(530): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(512): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCCACCC TCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTG CATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTC AGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAA GCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCC ATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	374	0.0027	519	c.14 others(530): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGG ATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGG TGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTC AGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(512): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTG CATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTC AGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAA GCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCC ATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01934.hp2 HG01346.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	374	0.0054	519	c.14 others(530): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGG ATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGG TGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTC AGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(512): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCCCGCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTG CATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTC AGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAA GCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCC ATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	374	0.0027	519	c.14 others(530): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCCTGAGGATACAGAGGAGGGTCGGCGGGGAGGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGG ATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGG TGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTC AGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(512): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCT GCATCCTCAAGGAACCTGCCCACCCTCCACCCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCC CACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTC CACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCA CCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	374	0.0027	519	c.13 others(530): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGC TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGG GTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGG GTGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCA GGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(512): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCC CACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTC CACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCA CCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	374	0.0027	519	c.13 others(530): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGC TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGG TGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGG TGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCA GGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(512): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCC CACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTC CACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCA CCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01261.hp2 others(39): Show HG00408.hp1 HG00609.hp2 HG01261.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02293.hp2 HG02738.hp2 HG03017.hp1 HG03834.hp2 HG04184.hp2 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18962.hp2 NA18965.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19012.hp2 NA19065.hp2 NA19068.hp1 NA19080.hp2 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0160 a0001c0001t0002g0102 a0001c0003t0001g0096	42	374	0.1123	519	c.13 others(530): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGC TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGG TGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGG TGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCA GGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGTTGG others(512): Show TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	170	0.0059	519	c.86- others(532): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAS6_chr13_113815549_113869076	113826690	T T	TGGCGCCG others(512): Show TGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCAGCGCCGGCC TCGCAGGCACCTTCTCTCCCCGGCCTCCTGGCGCCGGCCTCGCAGGCACC TTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCC GCCTCCTGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCG CCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTCCTGGCACTGGC CTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCAC CTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCC GGCCTCCCAGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGC GCCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTCCTGGCACTGG CCTCGCAGGCACCTTCTCTCCCCAGCCTCCCAGCGCCGGCCTTGCAGGCA CCTTCTCTCCCCGGCCTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	143	0.0070	519	c.147 others(536): Show c.1477+305_1477+306insGGGAGGCCGGGGAGAGAAGGTGCCTGCA AGGCCGGCGCTGGGAGGCTGGGGAGAGAAGGTGCCTGCGAGGCCAGTGCC AGGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAG GCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCTGGGAGGCCGGGGAGAG AAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGC GAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCAGTGC CAGGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGA GGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCAGGAGGCGGGGGAGA GAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTG CGAGGCCGGCGCCAGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCG CTGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)