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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTG GTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0273 a0001c0010t0001g0273	1	294	0.0034	720	c.153 others(739): Show c.1530-4959_1530-4958insACCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCT CCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGA CGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCAGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0004 a0003c0009t0001g0004	1	294	0.0034	720	c.153 others(739): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTC GCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGT CCTGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCG TGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGAC ACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGA CGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01258.hp1 others(2): Show HG00099.hp2 HG01069.hp2 HG01258.hp1 HG01261.hp2 HG02738.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0003c0032 a0001c0001 a0003c0009 a0003c0032	a0001c0001t0001 a0003c0009t0001 a0003c0032t0001 a0001c0001t0001 a0003c0009t0001 a0003c0032t0001	a0001c0001t0001g0177 a0003c0009t0001g0001 a0003c0009t0001g0005 others(2): Show a0001c0001t0001g0177 a0003c0009t0001g0001 a0003c0009t0001g0005 a0003c0009t0001g0007 a0003c0032t0001g0006	5	294	0.0170	720	c.153 others(739): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTC GCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCG TGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGAC ACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGA CGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0057 a0001c0002t0001g0058	2	294	0.0068	720	c.153 others(739): Show c.1530-4959_1530-4958insACCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTC GCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCG TGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGAC ACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(713): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGTTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	294	0.0034	720	c.153 others(739): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTC GCACCCGTCCCGTGACACCACTCGCAACCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCT CCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859736	C C	CGGGTGTG others(713): Show CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCG GGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAG GTGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGT GCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGC GTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCG GGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGT GGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGG TGTGCAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0002 a0003c0009t0001g0003	2	294	0.0068	720	c.153 others(739): Show c.1530-5031_1530-5030insACCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCACCCCGAGACACCACTCACACCCACCCC GAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGAGA CACCACTCACACCCACCCCGTGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCG TCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACACCTCCC GTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGA CACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACC ACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACCACTGCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859736	C C	CGGGTGTG others(713): Show CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGT CTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACG GGACGGGTGCGAGTGGTGTCACGGGAGGTGTGCGAGTGGTGTCTCGGGAC GGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGT GCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGC GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCG GGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGT GGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGG TGTGCAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	294	0.0034	720	c.153 others(739): Show c.1530-5031_1530-5030insACCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCACCCCGAGACACCACTCACACCCACCCC GAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGAGA CACCACTCACACCCACCCCGTGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTCGCACCCG TCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCC GAGACACCACTCGCACACCTCCCGTGACACCACTCGCACCCGTCCCGTGA CACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACC ACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACCACTGCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRCH3_chr3_197786254_197893436	197876971	C C	CTCACCGC others(713): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGT GATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCC AATTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCT CTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCA CCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCA GTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTAC CCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCAC CCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATT CTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACT CACCGCACCCATGACAGTGATTCTCTTTACCCAATTCACCGCACCCATGG CAGTGATTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0079 a0002c0003t0002g0079	1	292	0.0034	720	c.220 others(739): Show c.2208+1266_2208+1267insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGAC AGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTA CCCAATTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGAT TCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGT TCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATG GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCG CACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTG ATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCA ACTCACCGCACCCATGACAGTGATTCTCTTTACCCAATTCACCGCACCCA TGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTC TTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877562	A A	ACAGTGAT others(713): Show ACAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTT TACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCG CACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTG ATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCA ACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCA TGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGACAGTGATTCTC TTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAG TGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACC CAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACC CATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGAC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAGTTCACCGCACCCATGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0061 a0001c0001t0023g0061	1	292	0.0034	720	c.220 others(739): Show c.2208+1806_2208+1807insACTCACCGCACCCATGACAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGAC AGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGACAGTGAT TCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAAC TCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATG GCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTT TACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCG CACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTG ATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCA ACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCA TGACAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTC TTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCA		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(713): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	414	0.0024	720	c.-43 others(731): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(713): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG01934.hp2 others(5): Show HG00639.hp2 HG01884.hp1 HG01934.hp2 HG02055.hp1 HG02300.hp2 HG03579.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0009 a0011 a0032 a0049 a0065	a0001c0007 a0002c0002 a0008c0038 others(5): Show a0001c0007 a0002c0002 a0008c0038 a0009c0009 a0011c0011 a0032c0042 a0049c0122 a0065c0097	a0001c0007t0001 a0002c0002t0001 a0008c0038t0001 others(5): Show a0001c0007t0001 a0002c0002t0001 a0008c0038t0001 a0009c0009t0029 a0011c0011t0001 a0032c0042t0033 a0049c0122t0009 a0065c0097t0001	a0001c0007t0001g0149 a0002c0002t0001g0076 a0008c0038t0001g0072 others(5): Show a0001c0007t0001g0149 a0002c0002t0001g0076 a0008c0038t0001g0072 a0009c0009t0029g0270 a0011c0011t0001g0079 a0032c0042t0033g0276 a0049c0122t0009g0244 a0065c0097t0001g0134	8	292	0.0274	720	c.377 others(737): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(713): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20805.hp2 HG00741.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0151 a0002c0002t0001g0211 a0001c0001t0001g0151 a0002c0002t0001g0211	2	292	0.0069	720	c.377 others(737): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(713): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	292	0.0034	720	c.377 others(737): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(713): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0140 a0002c0037t0001g0140	1	292	0.0034	720	c.377 others(737): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(713): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG00735.hp1 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0112 a0002c0002t0001g0113	2	292	0.0069	720	c.377 others(737): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(713): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	720	c.26 others(731): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(713): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCG CCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTC CCGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTAC AGGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCG CCCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTG GATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCAC ACCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG01106.hp2 others(24): Show HG00597.hp2 HG00642.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01884.hp2 HG02132.hp1 HG02148.hp1 HG02602.hp1 HG02615.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03492.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18950.hp2 NA18979.hp2 NA18993.hp2 NA19000.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0006c0008t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0072 a0001c0001t0002g0101 a0001c0001t0004g0037 a0001c0001t0005g0013 a0001c0001t0006g0012 a0001c0001t0006g0060 a0001c0001t0006g0073 a0006c0008t0005g0102	27	438	0.0616	720	c.39 others(731): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACA CATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTG GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAA CCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTC CCGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGG TATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAA TTCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC		MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding					3048		chr7	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(713): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0146 a0001c0008t0001g0146	1	394	0.0025	720	c.315 others(737): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(713): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0036 a0002c0005t0001g0036	1	394	0.0025	720	c.315 others(737): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATA TAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTT TGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(713): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTA TATATATTTTTATATATATAAAATCATATTTTATATATATTTTATATATT ATATATATAAAATCTTATTTTATATATTATATATATATAAAATCTTATTT TATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTAATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0002 a0001c0001t0024g0002	1	330	0.0030	720	c.-5+ others(735): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATTAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGAT TTTATATATATATAATATATAAAATAAGATTTTATATATATAATATATAA AATATATATAAAATATGATTTTATATATATAAAAATATATATAAATATAT ATAAAATATGATTTTATATATATAAAAATATATATAAATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MUC4_chr3_195741771_195816929	195776175	T T	TCATACCT others(713): Show TCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACAGTCATACCTTCCGCACCCATACCTTC CACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0063 a0063	a0063c0165 a0063c0165	a0063c0165t0002 a0063c0165t0002	a0063c0165t0002g0027 a0063c0165t0002g0027	1	249	0.0040	720	c.129 others(741): Show c.12944-1871_12944-1870insGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195779259	T T	TGTGGATG others(713): Show TGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTG TGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTG GACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGTGTGACCTGAAGA TGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATG CTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCT GAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGACCTGTGGATGCCGA GGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTGTGGAAGCTGAGG AAAGGCCGGTGACAGGAAGTGGGGTGGCGTGAGCTGTGGATACTGAGGAA GTGTCGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGC GTCAGTGACAAGAAGAGGGCTGGCGTGACCTGTGGATGCTGAGGAAGGGC TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGACACGTCGGT GACAGGAAGACGGGTGGTGTCATCTGTGGTAGCTGAGGAAAGGCCGGTGA CAGGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAATTGTCGGTGACA GGAAGAGGGGTGGCGTGACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18947.hp2 NA18947.hp2	a0184 a0184	a0184c0126 a0184c0126	a0184c0126t0001 a0184c0126t0001	a0184c0126t0001g0089 a0184c0126t0001g0089	1	249	0.0040	720	c.123 others(731): Show c.12320_12321insCGGTCACGCCACCCCTCTTCCTGTCACCGACAAT TCCTCAGTATCCACAGGTCATGCCACCCCTCTTCCTGTCACCGGCCTTTC CTCAGCTACCACAGATGACACCACCCGTCTTCCTGTCACCGACGTGTCCT CGGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCAGC ATCCACAGGTCACGCCAGCCCTCTTCTTGTCACTGACGCTTCCTCAGCAT CCACAGGTCAGGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCC ACAGCTCACGCCACCCCACTTCCTGTCACCGGCCTTTCCTCAGCTTCCAC AGATGACACCACCCGTCTTCCTGTCACCGACGTTTCCTCGGCATCCACAG GTCAGGCCATCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGT GACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGA CACCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCTTCAGGTCACA CCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCC ACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACACTAACTCAGCATCCAC	p.Thr others(735): Show p.Thr4107_Gly4108insGlyHisAlaThrProLeuProValThrAsp AsnSerSerValSerThrGlyHisAlaThrProLeuProValThrGlyLe uSerSerAlaThrThrAspAspThrThrArgLeuProValThrAspValS erSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLeuSer SerValSerThrGlyAspThrThrProLeuProValThrSerProSerSe rAlaSerThrGlyHisAlaSerProLeuLeuValThrAspAlaSerSerA laSerThrGlyGlnAlaThrProLeuProValThrAspThrSerSerVal SerThrAlaHisAlaThrProLeuProValThrGlyLeuSerSerAlaSe rThrAspAspThrThrArgLeuProValThrAspValSerSerAlaSerT hrGlyGlnAlaIleProLeuProValThrSerProSerSerAlaSerThr GlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGl yAspThrThrSerLeuProValThrIleProSerSerAlaSerSerGlyH isThrThrSerLeuProValThrAspAlaSerSerValSerThrGlyHis AlaThrSerLeuLeuValThrAspAlaSerSerValSerThrGlyAspTh rThrProLeuProValThrAspThrAsnSerAlaSerThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12432/16756	12320/16239	4107/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784560	A A	AGTGACAG others(713): Show AGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTCGG TGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTG ACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTGTC AGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAG GCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGA AGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG GGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGG GTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG CGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTG TGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCCTGAC CTGTGGATGCTGAGTAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCT GTGGATGCTGAGGAAGTGTCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18906.hp1 NA18906.hp1	a0056 a0056	a0056c0142 a0056c0142	a0056c0142t0007 a0056c0142t0007	a0056c0142t0007g0006 a0056c0142t0007g0006	1	249	0.0040	720	c.701 others(729): Show c.7019_7020insCGACACTTCCTCAGCATCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTACTCAGCATCCACAGGTCAGGCCACCCCTC TTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTT CCTGTCACCGACACTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTG TCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCAC CGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCACCG ACACTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACCAGC CTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGC TTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACCAGCCCTT CCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGACACTAGCCCTTCC TCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTC AGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTTCCTCAG TGTCCACAGATGACACCACCCCTCTTCCTGTCAC	p.Thr others(735): Show p.Thr2340_Ser2341insAspThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrTyrSerAlaSerThrGlyGlnAlaTh rProLeuProValThrAspThrSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspThrSerSerAlaSerThrGlyHisThrThrPro LeuProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuP roValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuPro ValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProVa lThrAspThrSerSerAlaSerThrGlyAspThrThrProLeuProValT hrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeuValThr AspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSe rProSerSerAlaSerThrGlyAspThrThrProLeuProAspThrSerP roSerSerLeuSerThrGlyAspAlaThrProLeuProValThrSerPro SerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAspAlaSe rSerValSerThrAspAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7131/16756	7019/16239	2340/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788106	A A	AGTGTCGG others(713): Show AGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAG TGCTGGTGAGAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTG TCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTC GGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGG TGACAGGAAGAGGGGTGGTGTCACCTGTGGATAATGAGGAAGCATCGGTG ACATGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGAC AGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTCGGTGACAA GAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGA AGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAG GGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGCGT GGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGG CGTGACCTGTGGATACTGAGGAAGCATCAGTGACATGAAGAGGGGTGGTG TGACCTGTGGATGCTGAGGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02976.hp2 HG02258.hp2 HG02976.hp2	a0060 a0062 a0060 a0062	a0060c0199 a0062c0197 a0060c0199 a0062c0197	a0060c0199t0009 a0062c0197t0009 a0060c0199t0009 a0062c0197t0009	a0060c0199t0009g0224 a0062c0197t0009g0243 a0060c0199t0009g0224 a0062c0197t0009g0243	2	249	0.0080	720	c.347 others(729): Show c.3473_3474insCTCCTCAGCATCCACAGGTCACACCACCCCTCTTCA TGTCACTGATGCTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTG TCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTC ACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCAC CGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTA GCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGC CCTTCCTCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCC TTCCTCAGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTT CCTCAGTGTCCACAGATGACACCACCCCTCTTCCTGTCACTAGCCCTTCC TCAGCATCCACAGGTCACGCCACCCTTCTTCATGTCACCGATGCTTCCTC ATTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAG CATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCA TCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATC CACAGGTCAGGCCACCCCTCTTCCTCTCACCAGCACTTCCTCAGCATCCA CAGGTGACACCACCCCTCTTCCTGTCACCGACAC	p.Ala others(735): Show p.Ala1158_Ser1159insSerSerAlaSerThrGlyHisThrThrPro LeuHisValThrAspAlaSerSerValSerThrGlyHisAlaThrProLe uProValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuP roValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeu ValThrAspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProVa lThrSerProSerSerAlaSerThrGlyAspThrThrProLeuProValT hrSerProSerSerLeuSerThrGlyAspAlaThrProLeuProValThr SerProSerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAs pAlaSerSerValSerThrAspAspThrThrProLeuProValThrSerP roSerSerAlaSerThrGlyHisAlaThrLeuLeuHisValThrAspAla SerSerLeuSerThrGlyAspThrThrProLeuProValThrAspThrSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspAlaSerS erAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerSer AlaSerThrGlyGlnAlaThrProLeuProLeuThrSerThrSerSerAl aSerThrGlyAspThrThrProLeuProValThrAspThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3585/16756	3473/16239	1158/5412			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(713): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAATATATATATTTA AATATAAGTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0179 a0002c0004t0011g0179	1	326	0.0031	720	c.358 others(737): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTAAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA ATATATATATTTAAATATAAGTATATATATAAATATATATAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(713): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	326	0.0031	720	c.358 others(737): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA AAATATATATATTTAAATATAAGTATATATAAATATATATAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(713): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATGTAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	326	0.0031	720	c.358 others(737): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT GTAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATAT TTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTAT ATAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAA AAATATATATATTTAAATATAAGTATATATAAATATATATAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690621	T T	TAAGTATA others(713): Show TAAGTATAACATATAAATATATATATTTATAATATAAGTATACATATAAA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATACATATATTTTATATATAAGTATATATATAAATATATATATTTAT ATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATTT ATAGTATAAGTATATATAAATATATATATTTATATATAAGTGTATATAAA TATATATATATTTATATATAAGTGTATATATATAAATATATATATTTTAT ATATAAGTGTATATATATAAATATATATATTTATATATAAGTATATATAA ATATATATATTTATATATAAGTATATATAAATATATATATATTTATATAT AAGTATATATAAATATATATATTTTATATATAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTTAAAT ATAAGTATATATAAAATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATAATATAAGTATATATATAAATATATATTT AAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAA AATATTATATATTTAAATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	326	0.0031	720	c.358 others(737): Show c.358+3360_358+3361insACATATAAATATATATATTTATAATATA AGTATACATATAAATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATACATATATTTTATATATAAGTATATATATAA ATATATATATTTATATATAAGTATATATATATTTATATATAAGTATATAT AAATATATATATTTATAGTATAAGTATATATAAATATATATATTTATATA TAAGTGTATATAAATATATATATATTTATATATAAGTGTATATATATAAA TATATATATTTTATATATAAGTGTATATATATAAATATATATATTTATAT ATAAGTATATATAAATATATATATTTATATATAAGTATATATAAATATAT ATATATTTATATATAAGTATATATAAATATATATATTTTATATATAAGTA TATATAAATATATATATTTATATATAAGTATATATAAATATATATATTTA AATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAA TATATATTTTAAATATAAGTATATATAAAATATATATTTAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATAATATAAGTATATAT ATAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATAT AAGTATATATATAAAATATTATATATTTAAATATAAAGTATA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805464	G G	GACCTCCG others(713): Show GACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGGACCTCTGCAGGCCACTCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAACCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	319	0.0031	720	c.-38 others(731): Show c.-3814_-3813insACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACTCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3728		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(713): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0176 a0001c0018t0009g0176	1	322	0.0031	720	c.46 others(731): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532257	T T	TCCCCCGC others(713): Show TCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGAC CCTCCTGTCTCCTCTTGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0001 a0002c0058t0001	a0002c0058t0001g0256 a0002c0058t0001g0256	1	322	0.0031	720	c.46 others(731): Show c.4680_*4681insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2935		chr18	TogoVar
NKX1-1_chr4_1397932_1411442	1398033	G G	GGGTGTTT others(713): Show GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	720	c.48 others(731): Show c.4898_*4899insTGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGTATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4898		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398488	T T	TTTTCGGG others(713): Show TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATACA GGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0005 a0001c0001t0000g0005	1	382	0.0026	720	c.44 others(731): Show c.4443_*4444insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGTATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACTCACATCCAGATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4443		chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(713): Show TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGGGTGGGAGTGGGTGGAGGGGGGGAGCACT CAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCAC TCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGAGGGGGGAG CACTCAGGATCCCTCCCGGGGCAATGAGTGGCAGGGTGGGTGGAGGGGGG AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGG GGAGCACTCAGGATCCCTCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGTCGGGGG GAGCACTCAGGATCCTCCCAGGGGCAATGGGTCAGGGTGGGTGGGGGGGA GCACTCAGGATCCTCCAGGGGCAATGGGTGCAGGGTGGGTCGGGAGGGGG GGAGCACTCAGGATCCCTCCCGGGGCAATGGGGTGCAGGGTGGGTGGAGG GGGGAGCACTCAGGATCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0180 a0001c0001t0007g0180	1	324	0.0031	720	c.140 others(737): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCCTC CCGACCCACCCTGCACCCATTGCCCCTGGAGGATCCTGAGTGCTCCCCCC CACCCACCCTGACCCATTGCCCCTGGGAGGATCCTGAGTGCTCCCCCCGA CCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCA CCCACCCTGCACCCATTGCCCCTGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCT CCACCCACCCTGCCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CTCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTC CCCCCCTCCACCCACTCCCACCCACCCATTGCCCCTGGGAGGGATCCTGA GTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGA GTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGGGATCCTGA GTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	402	0.0025	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGCGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02083.hp2 HG02132.hp1 others(4): Show HG02040.hp2 HG02083.hp2 HG02132.hp1 NA18940.hp2 NA18947.hp1 NA18986.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0089 a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0089	7	402	0.0174	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGCGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02735.hp2 HG00733.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	402	0.0050	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATA GGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGG AACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCTGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	402	0.0025	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGG AACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(713): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAG CCACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCC AGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCTTACCCACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	402	0.0025	720	c.-40 others(731): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTA GGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTTGT CGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3866		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050044	T T	TGCCACCC others(713): Show TGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGT CCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACA AAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCAC CCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTAC CCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTC CCAGCCACCCGCCTGCCCCTACTCTCGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCC ACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGT TCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAG CCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCC TTACCCACGACAAAGTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	402	0.0025	720	c.-40 others(731): Show c.-4056_-4055insTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAG TAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTT GTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGAGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGCG AGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGC TGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3868		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050096	T T	TTACCCAC others(713): Show TTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAA GTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCC GCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCC ACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCC AGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGC CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGACA AAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCAC CCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTAC TCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTC CCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCCT ACTCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGT TCCCAGCCACCCGCCTGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	402	0.0025	720	c.-41 others(731): Show c.-4108_-4107insGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGG CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG AGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA AGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					3920		chr9	TogoVar
OSGIN1_chr16_83948240_83971332	83950915	G G	GCACACAC others(713): Show GCACACACGTACATGCACACATGAGCACATGTGCACACATGCACGTACAT ACTGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACACACTGGCACACACGTACACACACACGCACACATGAGCACATGT GCACACATGCACACACATGCACACATGAGCACATGTGCACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACTAGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACACACATACACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACGTACACACACGCACACATGGGCACATGTGCACACATGC ACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACACACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACGCACATGTGCACACAT GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	350	0.0029	720	c.-24 others(731): Show c.-2488_-2487insCACACACGTACATGCACACATGAGCACATGTGCA CACATGCACGTACATACTGGCACACGTACACACACGCACACATGAGCACA TGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCA CATGTGCACACATGCACATACACACTGGCACACACGTACACACACACGCA CACATGAGCACATGTGCACACATGCACACACATGCACACATGAGCACATG TGCACACATGCACACATGAGCACATGTGCACACATGCACATACATACTAG CACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACACACATACACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACGTACACACACGCACACATGGGCA CATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACACACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACG CACATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCA		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2324		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(713): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0001 a0002c0058t0001	a0002c0058t0001g0187 a0002c0058t0001g0187	1	268	0.0037	720	c.292 others(735): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(713): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19067.hp2 NA19060.hp1 NA19067.hp2	a0002 a0007 a0002 a0007	a0002c0083 a0007c0009 a0002c0083 a0007c0009	a0002c0083t0001 a0007c0009t0002 a0002c0083t0001 a0007c0009t0002	a0002c0083t0001g0193 a0007c0009t0002g0194 a0002c0083t0001g0193 a0007c0009t0002g0194	2	268	0.0075	720	c.292 others(735): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(713): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	720	c.-26 others(731): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(713): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	262	0.0038	720	c.129 others(737): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(713): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	432	0.0023	720	c.76+ others(735): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAAT		PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14						chr10	TogoVar

Search by Variant

Search

Search Results (Total: 8931 hits)