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.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(707): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTT GCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAG GTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCA GAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCC TTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCT CCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0035 a0001c0009t0035	a0001c0009t0035g0022 a0001c0009t0035g0022	1	374	0.0027	714	c.735 others(731): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCG GACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCAC CCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCA CGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGC CCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGC CGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCC ACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0029 a0008c0009t0003g0029	1	370	0.0027	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	370	0.0054	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTTTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAAAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	370	0.0027	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG03491.hp1 others(1): Show HG00642.hp1 HG01261.hp2 HG03491.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	370	0.0108	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG03669.hp1 HG02074.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	370	0.0054	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(707): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACGCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	714	c.-27 others(725): Show c.-2763_-2762insGGAGAGGGAGCGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LMF1_chr16_848634_975984	962016	G G	GACAGACT others(707): Show GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACAACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01361.hp2 others(4): Show HG00323.hp2 HG01081.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0010 a0002c0054 a0001c0005 a0001c0010 a0002c0054	a0001c0005t0001 a0001c0005t0012 a0001c0010t0001 others(1): Show a0001c0005t0001 a0001c0005t0012 a0001c0010t0001 a0002c0054t0001	a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 others(4): Show a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0012g0110 a0001c0010t0001g0115 a0002c0054t0001g0114	7	294	0.0238	714	c.194 others(731): Show c.194-7351_194-7350insGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCC CGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCC CGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTTGTGATCC CGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGT CTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGAT CCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCA CCGTGAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGT CTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(707): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAC AGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA19055.hp1 NA18993.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	714	c.-30 others(725): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTA TGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(707): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAC AGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(114): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02895.hp1 HG02896.hp2 HG03017.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18976.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19067.hp1 NA19068.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0013 a0015 a0001 a0013 a0015	a0001c0001 a0001c0008 a0001c0013 others(2): Show a0001c0001 a0001c0008 a0001c0013 a0013c0012 a0015c0016	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0001c0013t0001 a0013c0012t0001 a0015c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0003g0001 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0003g0001 a0001c0008t0001g0001 a0001c0013t0001g0001 a0013c0012t0001g0001 a0015c0016t0001g0001	117	422	0.2773	714	c.-30 others(725): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTA TGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(707): Show CCATCACCACCACCACCCTTCACCACCACCACCACCACCACCACCATCAC CACCACCACCCTTCACCACCATCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCATCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCA CCACCACCACCATCACCATCACCACCACCATCACCATCACCACCACCACC ACCACCCTTCACCAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	362	0.0028	714	c.391 others(729): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCATCACCATCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCATCACCATCACCACCACCATCA CCATCACCACCACCACCACCACCCTTCACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(707): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCAC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0018 a0018	a0018c0013 a0018c0013	a0018c0013t0004 a0018c0013t0004	a0018c0013t0004g0191 a0018c0013t0004g0191	1	292	0.0034	714	c.377 others(731): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(707): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03490.hp2 HG03492.hp2 HG01993.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0148	3	288	0.0104	714	c.483 others(729): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(707): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	288	0.0035	714	c.483 others(729): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(707): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01081.hp2 others(22): Show HG00140.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01261.hp2 HG01517.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03209.hp1 HG03491.hp2 HG03710.hp2 HG03942.hp1 HG06807.hp1 NA18951.hp1 NA18994.hp1 NA19007.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0003c0003 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 a0003c0003t0001 a0003c0003t0009 a0005c0005t0003	a0001c0001t0001g0102 a0002c0002t0001g0066 a0002c0002t0001g0153 others(22): Show a0001c0001t0001g0102 a0002c0002t0001g0066 a0002c0002t0001g0153 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0257 a0002c0012t0001g0060 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0028 a0003c0003t0001g0030 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0058 a0003c0003t0001g0232 a0003c0003t0009g0053 a0005c0005t0003g0003 a0005c0005t0003g0011	25	288	0.0868	714	c.483 others(729): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCG CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAG ATCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCC GTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGT AATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGC ATAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGC AATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTG AGCCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTA TGAAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0227 a0001c0001t0047g0227	1	418	0.0024	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGA TCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTA ATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCA TAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCA ATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG04204.hp1 HG04204.hp2 others(4): Show HG03098.hp1 HG04204.hp1 HG04204.hp2 NA18978.hp1 NA18978.hp2 NA19067.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0037 a0001c0001t0004 a0001c0001t0011 a0001c0001t0037	a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0051 others(2): Show a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0051 a0001c0001t0011g0017 a0001c0001t0037g0110	7	418	0.0168	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0142 a0001c0001t0021g0142	1	418	0.0024	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02622.hp2 NA19005.hp1 others(1): Show HG02155.hp1 HG02622.hp2 NA19005.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0005 a0001c0001t0004g0036 a0001c0001t0026g0096 a0001c0001t0004g0005 a0001c0001t0004g0036 a0001c0001t0026g0096	4	418	0.0096	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCA TTCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	418	0.0024	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGC AGTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAG AGAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACC ACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATT AGCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MLPH_chr2_237482251_237560322	237543266	G G	GGGGACAG others(707): Show GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTG AGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGAGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGG ACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0001 a0002c0044t0001	a0002c0044t0001g0077 a0002c0044t0001g0077	1	286	0.0035	714	c.153 others(731): Show c.1539+610_1539+611insACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTG GGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTG GGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG CAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACATT GGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(707): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGG GGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAG GGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	272	0.0037	714	c.250 others(729): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACC CCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCC CTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTT CTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCATCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	256	0.0039	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGATGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	256	0.0039	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01123.hp1 others(44): Show HG00738.hp2 HG01070.hp2 HG01123.hp1 HG01175.hp2 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG03710.hp1 HG06807.hp1 NA18939.hp1 NA18945.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA19043.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0012 a0001c0014 a0001c0018 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0007t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0018t0003 a0001c0023t0003	a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 others(44): Show a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0002g0120 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0003g0015 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0002t0001g0007 a0001c0002t0001g0072 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0210 a0001c0003t0003g0169 a0001c0007t0001g0209 a0001c0010t0001g0005 a0001c0010t0001g0139 a0001c0012t0001g0002 a0001c0012t0001g0003 a0001c0012t0001g0004 a0001c0014t0001g0077 a0001c0018t0003g0176 a0001c0023t0003g0203	47	256	0.1836	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0140 a0001c0010t0001g0140	1	256	0.0039	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	256	0.0039	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MTERF3_chr8_96234402_96266610	96250646	A A	AGAGGAAG others(707): Show AGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGACGACGACGAAGACGACGACGA AGAAGAAGAAGAAGACGACGACGACGACGACGACGAAGAAGAAGAAGAAG AAGACGACGACGACGACGACGACGACGACGACGACGACGACGACGACGAC GACGACGACGACGACGACGACGAAGACGACGACGACGACGACGACGACGA CGAAGACGACGACGACGACGACGACGACGACGAAGACGACGACGACGACG ACGACGACGACGAAGACGACGACGACGACGACGACGACGACGACGACGAC GAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGA GGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGG AAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAA GAGGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGA GGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGG AAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAA GAAGAAGAAGAGGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	294	0.0034	714	c.677 others(729): Show c.677+259_677+260insCTCCTCTTCTTCTTCTTCCTCCTCTTCCTC TTCCTCCTCTTCCTCTTCCTCCTCTTCCTCTTCTTCCTCCTCTTCCTCTT CCTCCTCTTCCTCTTCCTCCTCTTCCTCTTCCTCCTCTTCCTCTTCCTCC TCTTCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTC CTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCT CTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCC TCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCGTCGTCGTCGTCGTC GTCGTCGTCGTCGTCGTCGTCTTCGTCGTCGTCGTCGTCGTCGTCGTCGT CTTCGTCGTCGTCGTCGTCGTCGTCGTCGTCTTCGTCGTCGTCGTCGTCG TCGTCGTCGTCTTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTC GTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCTTCTTCTTCTTCTTCTT CGTCGTCGTCGTCGTCGTCGTCTTCTTCTTCTTCTTCGTCGTCGTCTTCG TCGTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(707): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGACATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAAT ATATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAAT ATGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATA TTAAATATTATATATTTAATATAATATATAATATATTTATATTAAATATT ATATATTTATATATTATTCATATTTATATTAAATATTATATATTTATATA TTATTCATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTAT ATATTTATATATTATATATATTTATATTAAATATTATATATTTATATATT ATATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATATATAATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATTATATATTTATATATT ATATAAATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	170	0.0059	714	c.166 others(733): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGACATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATA ATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATATA TTATATATTATATATTTATATTAAATATTATATATTTAATATAATATATA ATATATTTATATTAAATATTATATATTTATATATTATTCATATTTATATT AAATATTATATATTTATATATTATTCATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAA ATATTATATATTTATATATTATATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATATAATATATTTATATTGA ATATTATATATTTATATATTATATAAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(707): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAAT ATATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAAT ATGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATA TTAAATATTATATATTTAATATAATATATAATATATTTATATTAAATATT ATATATTTATATATTATTCATATTTATATTAAATATTATATATTTATATA TTATTCATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTAT ATATTTATATATTATATATATTTATATTAAATATTATATATTTATATATT ATATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATATATAATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATTATATATTTATATATT ATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02040.hp1 HG02698.hp1 others(4): Show HG01192.hp2 HG02040.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0004c0009t0005 a0001c0001t0001 a0001c0001t0003 a0004c0009t0005	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0003g0004 others(4): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0003g0004 a0001c0001t0003g0047 a0004c0009t0005g0101 a0004c0009t0005g0114 a0004c0009t0005g0116	7	170	0.0412	714	c.166 others(733): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATA ATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATATA TTATATATTATATATTTATATTAAATATTATATATTTAATATAATATATA ATATATTTATATTAAATATTATATATTTATATATTATTCATATTTATATT AAATATTATATATTTATATATTATTCATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAA ATATTATATATTTATATATTATATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATATAATATATTTATATTGA ATATTATATATTTATATATTATATAAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(707): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTT AAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTATATAG TTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0231 a0001c0005t0001g0231	1	244	0.0041	714	c.342 others(733): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTT TAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAA CTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAAC TATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATA AACTATATAGTTTTAAACTATATAAACTATATAGTTTAAACTATATAAAC TATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAA ACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(707): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCC CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0154 a0001c0001t0027g0154	1	326	0.0031	714	c.433 others(731): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGAGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(707): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCACCACCATCACTACCATA ACCACCATCACCATCATCACCATCATTACCATCATCATCACCATCACCAC CACCATCATCACCATAACCACCACCACCATCACCATAACCATCACCACCA TCATCACCATCACCACTACCGTCACCATCACCACCACCATCACTACCATC ACCATCACCACCACCATTATCACCATCACCACCATCATCACCACCATCAC CACCATCATCACCATCACCACCACCATCACGATTATCACCATCACCGCCA TCATTACCACCATCATCACCATCACCACCACCATCACCACCGCCACCATC ATCATCACCACCACCACCATCACCAGCGCCACCACCACCATCACCATCAC CACCACCACCATCACCATCGCCACCATCATCACCATTATCATCACCATTG TCACCATTATCACCATCATCACCATTATCACCATTATCCTCACCATCACC ACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01516.hp1 others(4): Show HG00733.hp2 HG00741.hp1 HG01516.hp1 HG01517.hp1 HG03209.hp2 HG03239.hp2 HG03688.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0001 a0006c0015t0029 a0001c0001t0001 a0006c0015t0029	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 others(4): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0225 a0006c0015t0029g0027	7	300	0.0233	714	c.120 others(733): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGGTGATGGT GATGATGATGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAGTGA TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATG GTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGT GATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGATGGTGTTGG TTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATGATGATGGTG GTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(707): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATAT AATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTAT ATATTATTTATTACATAAATATATATTATTTATTATATAATTATATATTA TTTATTACATAAATATATATTATTTATTACATAAGTATATATCACTTATT ATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTATT ATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTATT ATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0068 a0001c0005t0011g0068	1	106	0.0094	714	c.862 others(731): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTACATAAATATATATTATTT ATTATATAATTATATATTATTTATTACATAAATATATATTATTTATTACA TAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATATAA TTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATAA TTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PROZ_chr13_113153648_113177386	113161882	G G	GTCCCCAC others(707): Show GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01258.hp1 HG02735.hp1 others(1): Show HG01106.hp1 HG01258.hp1 HG02735.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0066	4	378	0.0106	714	c.259 others(729): Show c.259+951_259+952insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
RASA3_chr13_113972783_114137623	114113618	C C	CGGCGAGT others(707): Show CGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCACC ATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCAC CATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCA CCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCC ACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACC CACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCAC CCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCA CCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCC ACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTC CACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGT CCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAG TCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCA GTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATC AGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCAT CAGTCCACCCACCAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG04115.hp2 HG01175.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0002 a0001c0010t0002 a0001c0002t0002 a0001c0010t0002	a0001c0002t0002g0062 a0001c0010t0002g0052 a0001c0002t0002g0062 a0001c0010t0002g0052	2	67	0.0299	714	c.55+ others(731): Show c.55+18816_55+18817insATGGTGGGTGGACTGATGGACGCGGTGT GAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTG TGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGT GTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGG TGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCG GTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGC GGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACG CGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGAC GCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGA CGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGG ACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATG GACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGAT GGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGA TGGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTG ATGGACGCGGTGTGAGCTGTACGGACATCACTCGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTATATTA others(707): Show TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATATTATATTATGGATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATAAT ATAATATATTATGGATAATATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATAATATATTATATTATGGATAATATAATATATTATATAATATATTA TATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATA TAATATATTATATAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp2 HG02896.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0159 a0001c0001t0005g0044 a0001c0001t0005g0159	2	160	0.0125	714	c.389 others(735): Show c.389-154406_389-154405insGGATAATATAATATATTATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAGTATATT ATGGATAATATAATATATTATGGATAATATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATAATATATTATATTATGGATAATATAATATATTATAT AATATATTATATTATGGATAATATAATATATTATATAATATATTATATTA TGGATAATATAATATATTATATAATATATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SDK1_chr7_3296252_4274000	3976544	A A	AGGGTCCC others(707): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0063 a0003c0001t0063	a0003c0001t0063g0032 a0003c0001t0063g0032	1	116	0.0086	714	c.199 others(733): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977382	T T	TCCTCCAG others(707): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGGGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGGGGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG02559.hp2 HG02922.hp1	a0001 a0001	a0001c0026 a0001c0027 a0001c0026 a0001c0027	a0001c0026t0002 a0001c0027t0020 a0001c0026t0002 a0001c0027t0020	a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0026t0002g0086 a0001c0027t0020g0087	2	116	0.0172	714	c.199 others(733): Show c.1994+2854_1994+2855insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGGGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACGCAGGGGGCCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(707): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	324	0.0031	714	c.115 others(731): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATATGG AATATATATATATATGGAATATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(707): Show CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	324	0.0031	714	c.115 others(731): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(707): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCT TTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGC CCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTA GACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAAATTAGAGT AAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTT GAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTC AGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCT TAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAA TACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGT AGTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0047 a0001c0011t0047	a0001c0011t0047g0167 a0001c0011t0047g0167	1	358	0.0028	714	c.308 others(733): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGC ATAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATAT GCCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAAT TAGCAATGTAGACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGA AAATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAA ATTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTG GCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGC CCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCC AGGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAG TTTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGA TGTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(707): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCT TTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGC CCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTA GACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGT AAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTT GAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTC AGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGCCCAGCTAATT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCT TAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAA TACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGT AGTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19063.hp2 HG04184.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0056 a0001c0001t0004g0029 a0001c0001t0004g0056	2	358	0.0056	714	c.308 others(733): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGC ATAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATAT GCCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAAT TAGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGA AAATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAA ATTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTG GCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGC CCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCC AGGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAG TTTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGA TGTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(707): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCT TTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGC CCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTA GACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGT AAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTT GAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTC AGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCT TAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAA TACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGT AGTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02818.hp1 NA19030.hp2 HG02056.hp1 HG02818.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0053 a0001c0001t0002 a0001c0001t0023 a0001c0001t0053	a0001c0001t0002g0093 a0001c0001t0023g0070 a0001c0001t0053g0084 a0001c0001t0002g0093 a0001c0001t0023g0070 a0001c0001t0053g0084	3	358	0.0084	714	c.308 others(733): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGC ATAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATAT GCCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAAT TAGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGA AAATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAA ATTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTG GCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGC CCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCC AGGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAG TTTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGA TGTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMOC2_chr6_168436184_168672992	168594937	G G	GAGTATCT others(707): Show GAGTATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGAGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCT TCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTC CTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTC CTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCT TCCTAAGGCCTCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp1 NA18522.hp2 HG01891.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0012 a0005c0010 a0001c0002 a0002c0012 a0005c0010	a0001c0002t0002 a0002c0012t0010 a0005c0010t0001 a0001c0002t0002 a0002c0012t0010 a0005c0010t0001	a0001c0002t0002g0038 a0002c0012t0010g0076 a0005c0010t0001g0130 a0001c0002t0002g0038 a0002c0012t0010g0076 a0005c0010t0001g0130	3	180	0.0167	714	c.638 others(731): Show c.638-3879_638-3878insTATCTTTCTAGAGGATCGCGGAGCTCCT CCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCC TCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCGCGGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGC CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(707): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	322	0.0031	714	c.909 others(729): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(707): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCACAC AAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCAC ACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCT GCCCACACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCAT CCTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0221 a0001c0004t0001g0221	1	346	0.0029	714	c.657 others(729): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGAAGGATGGATAGG TGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATG GATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGG TGTGTGGGTGGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATG GGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAG ATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGT GGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGT GTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAA GGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATG GGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGG TGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTG GGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGA TGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(707): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCCATCCACACACCCACCCACACACCCATCCATCCACA CAAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCA CACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTC TGCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCCAT CCTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0113 a0003c0005t0113	a0003c0005t0113g0238 a0003c0005t0113g0238	1	346	0.0029	714	c.657 others(729): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGT GGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATGG ATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGGT GTGTGGGTGGGTGTGTGGATGGGGTGAGTGGGTGGGTGGGTGGGTGCATG GGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAG ATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGT GGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGT GTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAA GGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATG GGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGG TGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTG GGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGA TGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar

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