Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(703): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	256	0.0039	710	c.-45 others(731): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(703): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGA GGAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGG GGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGAGAGCAGGGGAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGG AGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0007 a0001c0003t0010g0007	1	168	0.0060	710	c.-26 others(719): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCC CAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTC CTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC TCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(703): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGGAGCTGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGGAGC TGGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGA GGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGA GGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	1	168	0.0060	710	c.-26 others(719): Show c.-267_-266insTCCTCCCCCCCTCCTCTTCTCCCCCCTCCACTGCTC CCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTC CTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTC CCCCTCCCCTGCTCCCCCTCCTCCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCCAGCTCCCCCCTCCTCCCCCCCCCAGC TCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTC CCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCCTCCCCAGCTCCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCC CCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(703): Show AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0168 a0001c0019t0001g0168	1	344	0.0029	710	c.85- others(727): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCTCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(703): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGG AGGAGGGGGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGGGGAGGAGGG GGAGGAGGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGG AGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGGGAGGAGGA GGAAGAGGGGGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0083 a0003c0083	a0003c0083t0001 a0003c0083t0001	a0003c0083t0001g0152 a0003c0083t0001g0152	1	252	0.0040	710	c.118 others(729): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTC TTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCC TCCTCCCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCC CCCTCCTCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCC CTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC CTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(703): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGGAGTAGGAGGACGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGG GGGAGGAGGAGGGGGAGGAGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGAGGAGGGGGGGAGGAGGAGGGAGGAGGGGGAGGAG GAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGG AGGATGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGAG GAGGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGAGGAGGGAGGAGGAGGAGAGGGAGGAAGG AGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGA GGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0008 a0008	a0008c0060 a0008c0060	a0008c0060t0001 a0008c0060t0001	a0008c0060t0001g0207 a0008c0060t0001g0207	1	252	0.0040	710	c.118 others(729): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCCTCCTCCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCTCC TCCTCCTCCCTCCTCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCTCCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCCTCCTCTCCTCCTCCCTC CTCCCTCCTCCCCCTCCTCCTCCTCCTCCCATCCTCCCTCCTCCCCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCCCTCCTC CCTCCTCCTCCCCCCCTCCTCCCCTCCTCCTCCCCCTCCTCCTCCCCCTC CTCCCTCCTCCTCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCC TCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCGTCCTCCTACTCCTCCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EXOC2_chr6_480154_698139	601974	A A	ACACATTC others(703): Show ACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	272	0.0037	710	c.743 others(727): Show c.743-2750_743-2749insGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCA CACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGT TCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCA CACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGT TCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGA TTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACG GGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTT GGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAA TGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGGATT CGCACACGGGGTGTTCTTGGTGTGAGAATGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602242	G G	GTGCGAAT others(703): Show GTGCGAATCCACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACATTCTCACACCAAGAACACC CCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGA ATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGT GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCC ACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19012.hp2 HG02074.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0140 a0001c0001t0005g0091 a0001c0001t0004g0140 a0001c0001t0005g0091	2	272	0.0074	710	c.743 others(727): Show c.743-3018_743-3017insGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCG CAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGT GTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGA TTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACG GGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTT GGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAA TGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGA TTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACG GGGTGTTCTTGGTGTGAGAATGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602242	G G	GTGCGAAT others(703): Show GTGCGAATCCACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACATTCTCACACCAAGAACACC CCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGA ATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGT GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCC ACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03017.hp2 HG03195.hp2 others(1): Show HG00099.hp2 HG03017.hp2 HG03195.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0142 a0001c0001t0002g0106 a0001c0001t0002g0201 others(1): Show a0001c0001t0001g0142 a0001c0001t0002g0106 a0001c0001t0002g0201 a0001c0001t0026g0269	4	272	0.0147	710	c.743 others(727): Show c.743-3018_743-3017insGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCG CACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGT GTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGA TTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACG GGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTT GGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAA TGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGA TTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACG GGGTGTTCTTGGTGTGAGAATGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FBN2_chr5_128252909_128543245	128540035	T T	TATATATC others(703): Show TATATATCATATATCATATATATCATATATATCATATATCATATATCAAT CATATATATCATATATCATATATATCATATATATCATATATCATATATAT CATATATCATATATCATATATCATATATATCATATATATCATATATCATA TATCAATCATATATATTATATATCATATATATTATATATCATATATATCA TATATCATATATATCATATATATCATATATCATATATATCATATATATCA TATATCATATATATCATATATATCATATATCATATATCATATATATCATA TATCATATATATCATATATATCATATATCATATATATCATATATATCATA TATCATATATATCATATATATCATATATCATATATATCATATATATCATA TATCATATATATCATATATATCATATATCATATATATCATATATATCATA TATCATATATATCATATATATCATATATCATATATATCATATATATCATA TATCATTATCATATATCATATATATCATATATCATATATCATATATATCA TATATCAATCATATATATCATATATCATATATCATATATATCATATATCA TATATCATATATATCATATATCATATATCATATATATCATATATATCATA TATATCATATATATCATATATCATATATCATATATCATATATATCATATA TATCATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0027 a0002c0029t0027	a0002c0029t0027g0118 a0002c0029t0027g0118	1	236	0.0042	710	c.-24 others(721): Show c.-2433_-2432insGATATATGATATATATGATATATATGATATATGA TATATGATATATGATATATATGATATATATGATATATATGATATATATGA TATATGATATATGATATATATGATATATGATATATGATATATATGATATA TGATATATGATATATATGATTGATATATGATATATATGATATATGATATA TGATATATATGATATATGATAATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATGATA TATGATATATATGATATATATGATATATGATATATATGATATATATGATA TATGATATATATGATATATATGATATATGATATATATGATATATAATATA TATGATATATAATATATATGATTGATATATGATATATGATATATATGATA TATATGATATATGATATATGATATATGATATATATGATATATGATATATA TGATATATATGATATATGATATATATGATTGATATATGATATATGATATA TATGATATATATGATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1791		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(703): Show ATGTATATACATATATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTATATACATATAAATATATATTTATATACATATAAATATA TATATTTACATACATATAAATATATATTTACATACATATAAATATATATT TACATACATATAAATATATACATTTATATACATATAAATATATACATATA TACATATAAATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATATGTATATATATTTATATATATATAAATATATATATATT TGTATATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATACATATAAATATATATTTATATACATATAAATATA TAATTATATACATATAAATATATAATTATATACATATAAATATATATAAT TATATACATATAAATATATATTTATATACATATAAATTTATATACATATA AATATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0235 a0004c0005t0002g0235	1	292	0.0034	710	c.49 others(721): Show c.4940_*4941insATATTTATATTTATATGTATATAAATTTATATGT ATATAAATATATATTTATATGTATATAATTATATATATTTATATGTATAT AATTATATATTTATATGTATATAATTATATATTTATATGTATATAAATAT ATATTTATATGTATATATATATAAATATATATATATTTATATATATATAA ATATATATATATTTATATATATATACAAATATATATATATTTATATATAT ATAAATATATATACATATATATATTTATATGTATATAAATATATATTTAT ATGTATATAAATATATATTTATATGTATATATGTATATATTTATATGTAT ATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTATGTAA ATATATATTTATATGTATGTAAATATATATATTTATATGTATATAAATAT ATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATAT TTATATGTATATAAATATATATTTATATGTATATAAATATATATTTATAT GTATATAAATATATATATTTATATGTATATAAATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT AATATACATACATATATATTTATATGTATATACATATATATTTATATGTA TATACATATATATATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586506	G G	GGAAAGGA others(703): Show GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAATG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0203 a0001c0001t0007g0203	1	308	0.0033	710	c.157 others(727): Show c.1576+344_1576+345insGGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAAGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FTCD_chr21_46131779_46160579	46144453	T T	TCCCCCTC others(703): Show TCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCC CCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTC TCCCTCCCTCCCCTTCCCCCCCTCCCTCCCTACCCTCTCTCCCCCCTCTC CCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTC TCTCTCCCTCCCTCTCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCC TCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCT CCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTC TCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCT CTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTT CCTCCCTGTCTCCCCCTCTCCCCCCCCTCCTTCTCTCCCCCCTCTCCCTC TCCCCCCTCCCTCTCTCCCCCTGCCCTCTCCCCCTCCCTCTCTCCCCCCT CCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCT CCTTCTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCC CTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCC CCCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0114 a0001c0010t0003g0114	1	230	0.0044	710	c.126 others(727): Show c.1260+963_1260+964insGAAGGAAAGGGGGGAAAGAGGGAGGGGG GAGAGGGAGAGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGA GAGGGAGGGAAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGA GAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAG GGGGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGA GAAGGAGGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGG AGAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAG AGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGA GAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGG GGAGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAG AGGGAGAGGGAGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGA GAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGG GTAGGGAGGGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGG AGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGGAGGG AGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GEMIN4_chr17_739421_757264	753126	A A	AGGAAGTG others(703): Show AGGAAGTGGGGGGCATGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGC CATGAGGGGCTACGCGGCCAAAGTGAGGAGATGAGGAAGAAGGAAGTGGG GGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGAGGGGC TACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGGGCGTGGAG CGCGAACAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCA AAGTGGAGGAGCTGACGAAGGAAGTGGGGGGCATGGAGCGCGAACAAAGG GGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAGAGTGAGGAGAT GAGGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAG ATGGACGCCATGAGGGGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAG GAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCA TGAGGGGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAAGTGGGGG GCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTA CGCGGCCAGAGTGAGATGAGGAAGAAGGAAGTGGTGGGCGTGGAGCGCGA ACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTG GAGGAGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0033 a0015c0020t0001g0033	1	434	0.0023	710	c.-98 others(719): Show c.-985_-984insGTCAGCTCCTCCACTTTGGCCGCGTAGCCCCTCATG GCGTCCATCTTGCACGCCCCTTTGTTCGCGCTCCACGCCCACCACTTCCT TCTTCCTCATCTCACTCTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGG ACGCCCCTTTGTTCGCGCTCCACGCCCCCCACTTCCTTCTTCCTCATCTC CTCACTCTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGCACGCCCCTTT GTTCGCGCTCCACGCCCCCCACTTCCTTCTTCCTCATCTCCTCACTCTGG CCGCGTAGCCCCTCATGGCGTCCATCTTGGACGCCCCTTTGTTCGCGCTC CACGCCCCCCACTTCCTTCTTCCTCATCTCCTCACTCTGGCCGCGTAGCC CCTCATGGCGTCCATCTTGCACGCCCCTTTGTTCGCGCTCCATGCCCCCC ACTTCCTTCGTCAGCTCCTCCACTTTGGCCGCGTAGCCCCTCATGGCGTC CATCTTGGACGCCCCTTTGTTCGCGCTCCACGCCCCCCACTTCCTTCTTC CTCATCTCCTCACTCTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGGAC GCCCCTTTGTTCGCGCTCCACGCCCCCCACTTCCTTCTTCCTCATCTCCT CACTTTGGCCGCGTAGCCCCTCATGGCGTCCATCTTGCACGCCCCTTTGT TCGCGCTCCATGCCCCCCACTTCC	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding		863		chr17	TogoVar
GTPBP6_chrX_299759_323796	323556	G G	GTGTGTGT others(703): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCT CCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAG GTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTC AGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATG AGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGT CTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCA GGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAA TCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAG GGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTT CATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTG TGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGT TCCGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGA GCTCAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0007 a0011c0014t0001g0007	1	155	0.0065	710	c.-47 others(721): Show c.-4770_-4769insTGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACGTCCCTGAGCTCACCACC TGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGA GCCCAGGAGATTGACGGCTACACACACACACACACACACACACACACACG TCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGG GCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACAC ACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGACGCC CTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGA CTGACGGCTACACACACACACACACACACACACACACACACACAAACGTC CCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGC AGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACAC ACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCT CTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACA CACACACACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4761		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(703): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATTATATATATGGAAT ATATATATACGGAATATATATATAATATATATATGGATATATATACGGAA TATATATATATGGAATATATATATATGGAATGTGTATATATGGAATATAT ATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATA TGGAATATATATATGGAATGTGTATATATGGAATATATATATGGAATGTG TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	710	c.-21 others(721): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TTATATATATGGAATATATATATACGGAATATATATATAATATATATATG GATATATATACGGAATATATATATATGGAATATATATATATGGAATGTGT ATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATATA TGGAATGTGTATATATGGAATATATATATGGAATGTGTATATATGGAATA TATATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INS_chr11_2154779_2166209	2161678	G G	GGACCCCT others(703): Show GGACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTG TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCC CTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCC CAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCAGACC CCTGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	376	0.0027	710	c.-52 others(719): Show c.-529_-528insATGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCCG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCTGAGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		470		chr11	TogoVar
INS_chr11_2154779_2166209	2161833	G G	GGACCCCT others(703): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCCCGGACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCCACAC CCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	710	c.-68 others(719): Show c.-684_-683insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGGACAGGGGTCTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC GGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGG GGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		625		chr11	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(703): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGGGGAGGA GGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGG GGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGG AGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGG AGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02622.hp2 others(1): Show HG01891.hp1 HG02280.hp2 HG02622.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0176 a0001c0001t0017g0025 a0001c0001t0010g0176 a0001c0001t0017g0025	4	386	0.0104	710	c.-46 others(721): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCCCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC TTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCT CCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTC TTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTC TCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCA CCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCT TTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTC TCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCT CCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCT others(703): Show CCTCTCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	370	0.0027	710	c.-27 others(721): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAA GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(703): Show TCCTCTCCCTCTCCCTCCTCTCCCCTCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCTCTCCCTCT CACCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCTCTCCCTCTC CTCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCCTCCTCTCCTCTCCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCTCCTCTCCCTC TCCCTCTCCTCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCTCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCTCC TCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCAC TCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	710	c.-27 others(721): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGAGGAGAGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG AGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGAGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGAGGAGAGGGAGAGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGTGAGAGGGAGAGGAGAGGGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GAGGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(703): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACCTCCAAA CACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACA CACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACACA CCTAACACACACCTCCTTCAAACACACACACACACCTCCAAACACACACA CACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACACACACA CACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCT AACACACACCTCCTTCAAACACACACCTCCACACACACACACCTAACACA CACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACA CCTCCTTCAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	262	0.0038	710	c.212 others(729): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACA CACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACCTC CACACACACACACACCTAACACACACCTCCTTCAAACACACACACACACC TCCAAACACACACACACCTAACACACAGCTTCTTCAAACACACACACACC TCCAAACACACACACACCTAACACACACCTCCTTCAAACACACAAACCTC CAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACAC ACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACAC ACACCTAACACACACCTCCTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LOC128092252_chr15_50643802_50691717	50679475	T T	TATATATA others(703): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATTATATATATGTGTATATATATAATA TATATATATTATATATATGTGTATATATATAATATATATATATATATTAT ATATATGTGTATATATATAATATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TATTATATATATGTGTATATATATAATATATATATATATTATATATATGT GTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0168 a0001c0001t0000g0168	1	388	0.0026	710	c.187 others(727): Show c.187+7055_187+7056insTATATATATACACATATATATAATATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATTATATATATACACATATATATA ATATATATATATATTATATATATACACATATATATAATATATATATATAT ATTATATATATACACATATATATAATATATATATATTATATATATACACA TATATATAATATATATATATTATATATATACACATATATATAATATATAT ATATATTATATATATACACATATATATAATATATATATATATATTATATA TATACACATATATATAATATATATATATTATATATATACACATATATATA ATATATATATATTATATATATACACATATATATAATATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATATTATATATATACACATATATATAATATATAT ATATATTATATATATACACATATATATAATATATATATATATTATATATA TACACATATATATAATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATATATTA TATATATACACATATATATAATATATATATAT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(703): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTT ATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	710	c.-30 others(721): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTA AAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(703): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATA CCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTA CATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACA TACCCGGGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTA CATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACA TACCCGGGCCACTTACTTACCTACTACATACCCGGGCCACTTACTTACCT ACTACATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCACTTAC TTACCTACTACATACCCGGGCCACTTACTTACCTACTACATACCCGGGCC ACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG03540.hp2 HG02559.hp2 HG02723.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0004 a0001c0001t0053g0139 a0001c0001t0001g0004 a0001c0001t0053g0139	3	296	0.0101	710	c.368 others(727): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA GGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTAT GTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCC GGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCAC others(703): Show ACACCCACAATTACACCCACACTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACAC TCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTT ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TTACACCCACACTTACATCTACCTCCACGCCCACACTCACACCCACCCAC ACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTT ACATCTACCTCCACGCCCACTCACACCCACCCACACTCACACCCACCCAC ACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0096 a0001c0003t0006g0096	1	290	0.0035	710	c.129 others(727): Show c.1290-971_1290-970insATTACACCCACACTTACATCTACCTCCA CGCCCACACTCACACCCACCCACACTCACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTACC TCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACACTTACA CCCACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACACT CACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTTA CACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACT TACACCCACACTTACATCTACCTCCACGCCCACTCACACCCACCCACACT CACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT CACACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACACT CACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATC TACCTCCACACCCACACTCACACCCACCCACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(703): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCATAATCACCACCATCACCACCACCA CCATCACCATCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCACCATCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCATCACCACCACCACCACCATAATCACCACC ATCACCACCACCACCATCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0291 a0001c0003t0002g0291	1	362	0.0028	710	c.391 others(725): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCATAATCA CCACCATCACCACCACCACCATCACCATCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCATAATCACCACCATCACCACCACCACCATCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(703): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCATAATCACCACCATCACCACCACCA CCATCACCATCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCATCACCACCACCACCACCATAATCACCACC ATCACCACCACCACCATCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	362	0.0028	710	c.391 others(725): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCATAATCA CCACCATCACCACCACCACCATCACCATCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCATAATCACCACCATCACCACCACCACCATCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(703): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA CAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATC TGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00621.hp2 others(34): Show HG00140.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp1 HG01256.hp2 HG01515.hp2 HG01934.hp2 HG02004.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp1 HG02683.hp2 HG02970.hp1 HG03486.hp2 HG03710.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18959.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA18992.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19064.hp1 NA19074.hp2 NA19079.hp2 NA19087.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 a0001c0001t0031 a0001c0001t0062 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0004t0003 a0001c0011t0045 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0004 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0202 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0103 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0014g0200 a0001c0001t0018g0047 a0001c0001t0018g0213 a0001c0001t0031g0041 a0001c0001t0062g0180 a0001c0001t0071g0175 a0001c0001t0073g0173 a0001c0001t0074g0148 a0001c0004t0003g0208 a0001c0011t0045g0212 a0002c0002t0003g0067 a0002c0002t0003g0074	37	418	0.0885	710	c.23 others(721): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(703): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA CAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATC TGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG03579.hp2 others(1): Show HG02451.hp1 HG02809.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0038 a0001c0001t0067 a0001c0001t0005 a0001c0001t0038 a0001c0001t0067	a0001c0001t0005g0009 a0001c0001t0038g0156 a0001c0001t0038g0162 others(1): Show a0001c0001t0005g0009 a0001c0001t0038g0156 a0001c0001t0038g0162 a0001c0001t0067g0153	4	418	0.0096	710	c.23 others(721): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(703): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCT CCCGGGTTCGAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA CAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATC TGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0134 a0001c0001t0022g0134	1	418	0.0024	710	c.23 others(721): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTCGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(703): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA CAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATC TGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0062 a0002c0002t0024g0062	1	418	0.0024	710	c.23 others(721): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(703): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACA AGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCC AGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGT TGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGA GCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTA CAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATC TGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0188 a0001c0001t0042g0188	1	418	0.0024	710	c.23 others(721): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MROH1_chr8_144143016_144266926	144218796	C C	CCCGTCTC others(703): Show CCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCT CCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0051 a0009c0009t0001g0051	1	140	0.0071	710	c.114 others(729): Show c.1142-1802_1142-1801insGTCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCC CTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCCCATCCCCTCCTCCCCTCCCCCTCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MUC4_chr3_195741771_195816929	195760471	G G	GTCCAGCG others(703): Show GTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGG ATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGG GGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGG TCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGA TGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGG CTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTC CAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATG GAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGC TGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTC CAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATG GATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGC TGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTC CAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATG GAGTGGAGGGGGCTGGGAAGGTGTCCAGCGCTAGGATGGAGTGGAGGGGG CTGGGAAGGCA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0129 a0129	a0129c0038 a0129c0038	a0129c0038t0001 a0129c0038t0001	a0129c0038t0001g0148 a0129c0038t0001g0148	1	249	0.0040	710	c.148 others(729): Show c.14848+412_14848+413insTGCCTTCCCAGCCCCCTCCACTCCAT CCTAGCGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGA CGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCC CCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCA TCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGA CGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCC CCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCAT CCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGA CCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCC CCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATC CTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGCTGGACG CCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCC CTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCC TAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGC CTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(703): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGG GAGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGGAGG GAGGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGT GGGGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGG GAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGT GGGGAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAG GGAGGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGA GTGGAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGG AAGGTGGAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGA GTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	196	0.0051	710	c.321 others(729): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCC TCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCT CCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCC ACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCCTGCC TTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTC CCTGCCCTCCACCCTCCCTCCCCACTTTCCCCCCCCTCCACCCTCCCTGC CCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATC CTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCT CCCTCCCCTCCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(703): Show GGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTGGGGGGGGGCTGGAGTCAGACAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGG AGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAG AGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	242	0.0041	710	c.360 others(729): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACT CCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAAC CTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACC TGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGA CCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCC CCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTC TGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952763	A A	AGTCAGAC others(703): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTC AGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG GGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG02109.hp1 HG00673.hp1 HG00733.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0003g0033 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0003g0033	3	242	0.0124	710	c.360 others(729): Show c.360+26555_360+26556insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952763	A A	AGTCAGAC others(703): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTC AGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG GGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02056.hp2 HG00738.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0081 a0001c0001t0002g0031 a0001c0001t0002g0081	2	242	0.0083	710	c.360 others(729): Show c.360+26555_360+26556insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(703): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	262	0.0038	710	c.129 others(727): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(703): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCT GCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACC CCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCC TCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTC CCCGCACACCCCCATCCCCTCCCCGCACACCCCACCCCCTCCCCTGCACA CCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACA ACCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCACCCCCTCCC CTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGCACA CCCCACAACCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0009 a0012c0013t0009	a0012c0013t0009g0019 a0012c0013t0009g0019	1	210	0.0048	710	c.147 others(727): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCT GCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCC CACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCA CCCCCTCCCCGCACACCCCCATCCCCTCCCCGCACACCCCACCCCCTCCC CTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGCACA CCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCACC CCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCC CTGCACACCCCACAACCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCTCCA others(703): Show TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	227	0.0044	710	c.23 others(721): Show c.2346_*2347insCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2066		chr19	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(703): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	304	0.0033	710	c.66+ others(725): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(703): Show TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TAATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATATTATGGATAATATATTATATT ATGGATAATATATTATGGATAATATATTATATTATGGATAATATATTATA TTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATATTATGGATAATATAATATAATATATTATATTATGGATAATATAA TATAATATATC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	160	0.0063	710	c.389 others(731): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT AATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATATTATATTATGGATAATATATTATGGATAATATATTATATTA TGGATAATATATTATGGATAATATATTATATTATGGATAATATATTATAT TATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATAATATATTATATTATGGATAATATAAT ATAATATATCATATTATGGATAATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(703): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATTTATA TATTTAATTTATAAGTATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATA GATAAATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	308	0.0033	710	c.-75 others(729): Show c.-758+6737_-758+6738insCTATAAATTAAATATATAAATATATA TTTATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATA TAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATACTTATAAATTAAATATATAAATATGTACTT ATAAACTAAATATATAAATATGTACTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATT TATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATA TATTTATAAACTAAATATGTAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATCC others(703): Show CTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTC TATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTCTAT CCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTATGCC CCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCA CAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACA AGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCA TAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATT GCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACAAGCATCGCT CCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCA ACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAAC CCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCC TCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCC CCAACTCTCCTCATTCTACGCCCCCCACAAGCATAGCTCCAACCCTCCCC CCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCTCCCCC ACTCTCCTCAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19087.hp2 NA18995.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0004 a0003c0001t0001 a0001c0004t0004 a0003c0001t0001	a0001c0004t0004g0124 a0003c0001t0001g0125 a0001c0004t0004g0124 a0003c0001t0001g0125	2	280	0.0071	710	c.89- others(723): Show c.89-443_89-442insATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGC TTGTGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCT TGTGGGGGGCGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTT GGGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGG GGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGG GGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGG ATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATA GAATGAGGAGCGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAA TGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGA GGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGA GAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAG TGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGG GGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTGGGGG AGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGGGAGG GTTGGAGCAATGCTTGTGGGGGGATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339683	C C	CCCCCCAC others(703): Show CCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTCTATGCC CCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTCTATCCCCCC ACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTATGCCCCCACA AGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCCACCCCCCACAAGCA TAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATT GCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACAAGCATCGCT CCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCA ACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAAC CCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCC TCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCC CCAACTCTCCTCATTCTACGCCCCCCACAAGCATAGCTCCAACCCTCCCC CCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCTCCCCC ACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCTACT CTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTC CTCACTCTATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0254 a0001c0022t0001g0254	1	280	0.0036	710	c.89- others(723): Show c.89-449_89-448insCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAG TGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCAA TGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGC TTGTGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCT TGTGGGGGGCGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTT GGGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGG GGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGG GGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGG ATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATA GAATGAGGAGCGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAA TGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTGGAATGA GGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGA GAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAG TGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGG GGGAGGGTTGGAGCAATGCTTGTGGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(703): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGGGGAGGA GGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGG GGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGG AGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGG AGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02622.hp2 others(1): Show HG01891.hp2 HG02280.hp1 HG02622.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0282 a0001c0001t0004g0008 a0001c0001t0004g0282	4	350	0.0114	710	c.624 others(725): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCCCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCT CCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCT CTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCC TTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCT TTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTC ATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCT CCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCC TCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC44A5_chr1_75197129_75616114	75280140	A A	ATATATTG others(703): Show ATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATATA ATATATAGTATATATTTTATGTTGTATATATAATATACATAGTATATATT ATATATTGTATATAATATACATAGTATATATTATATATTGTATATAATAT ACATAGTATATATTATATATTGTATATAATATATATAGTATATATTATAT ATTGTATATAATATATATAGTATATATTATATATTGTATATAATATATAT AGTATATATTATATATTGTATATAATATATATAGTATATATTATATATAT ATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTAT ATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAAT ATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATGTT ATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATA ATATATATAGTATATGTTATATATTGTATATATAATATATATAGTATATG TTATATATTGTATATATAATATATAGTATATGTTATATATTGTATATATA ATATATAGTATATGTTATATATTGTATATATAATATATAGTATATGTTAT ATATTGTATATATAATATATAGTATATGTTATATATTGTATATATAATAT ATTGTATATGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0065 a0001c0007t0002g0065	1	156	0.0064	710	c.176 others(727): Show c.176-5099_176-5098insACATATACAATATATTATATATACAATA TATAACATATACTATATATTATATATACAATATATAACATATACTATATA TTATATATACAATATATAACATATACTATATATTATATATACAATATATA ACATATACTATATATTATATATACAATATATAACATATACTATATATATT ATATATACAATATATAACATATACTATATATATTATATATACAATATATA ACATATACAATATATATTATATATACAATATATAACATATACAATATATA TTATATATACAATATATAACATATACAATATATATTATATATACAATATA TAACATATACAATATATATTATATATACAATATATAATATATACAATATA TATATTATATATACAATATATAATATATACAATATATATATAATATATAC TATATATATTATATACAATATATAATATATACTATATATATTATATACAA TATATAATATATACTATATATATTATATACAATATATAATATATACTATA TATATTATATACAATATATAATATATACTATGTATATTATATACAATATA TAATATATACTATGTATATTATATACAATATATAATATATACTATGTATA TTATATATACAACATAAAATATATACTATATATTATATATACAATATAAA ATATATATAATATATATTAGATATACAATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280140	A A	ATATATTG others(703): Show ATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATATA ATATATAGTATATATTTTATGTTGTATATATAATATACATAGTATATATT ATATATTGTATATAATATACATAGTATATATTATATATTGTATATAATAT ACATAGTATATATTATATATTGTATATAATATATATAGTATATATTATAT ATTGTATATAATATATATAGTATATATTATATATTGTATATAATATATAT AGTATATATTATATATTGTATATAATATATATAGTATATATTATATATAT ATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTAT ATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAAT ATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATGTT ATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATA ATATATATTGTATATGTTATATATTGTATATATAATATATATAGTATATG TTATATATTGTATATATAATATATAGTATATGTTATATATTGTATATATA ATATATAGTATATGTTATATATTGTATATATAATATATAGTATATGTTAT ATATTGTATATATAATATATAGTATATGTTATATATTGTATATATAATAT ATAGTATATGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	156	0.0064	710	c.176 others(727): Show c.176-5099_176-5098insACATATACTATATATTATATATACAATA TATAACATATACTATATATTATATATACAATATATAACATATACTATATA TTATATATACAATATATAACATATACTATATATTATATATACAATATATA ACATATACTATATATTATATATACAATATATAACATATACTATATATATT ATATATACAATATATAACATATACAATATATATTATATATACAATATATA ACATATACAATATATATTATATATACAATATATAACATATACAATATATA TTATATATACAATATATAACATATACAATATATATTATATATACAATATA TAACATATACAATATATATTATATATACAATATATAATATATACAATATA TATATTATATATACAATATATAATATATACAATATATATATAATATATAC TATATATATTATATACAATATATAATATATACTATATATATTATATACAA TATATAATATATACTATATATATTATATACAATATATAATATATACTATA TATATTATATACAATATATAATATATACTATGTATATTATATACAATATA TAATATATACTATGTATATTATATACAATATATAATATATACTATGTATA TTATATATACAACATAAAATATATACTATATATTATATATACAATATAAA ATATATATAATATATATTAGATATACAATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar

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Search Results (Total: 8931 hits)