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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPTOR_chr17_80539838_80971368	80744101	T T	TAGCACAG others(407): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCT GGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0028 a0001c0083t0028	a0001c0083t0028g0158 a0001c0083t0028g0158	1	196	0.0051	414	c.655 others(431): Show c.655-9896_655-9895insCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744331	C C	CTACTAGC others(407): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGCCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0037 a0001c0019t0005g0037	1	196	0.0051	414	c.655 others(431): Show c.655-9670_655-9669insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGCCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744349	C C	CTACTAGT others(407): Show CTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20752.hp2 HG01081.hp1 NA20752.hp2	a0001 a0001	a0001c0037 a0001c0095 a0001c0037 a0001c0095	a0001c0037t0053 a0001c0095t0003 a0001c0037t0053 a0001c0095t0003	a0001c0037t0053g0138 a0001c0095t0003g0137 a0001c0037t0053g0138 a0001c0095t0003g0137	2	196	0.0102	414	c.655 others(431): Show c.655-9655_655-9654insTACAGCCCTGGCTACTAGCACTGTCCTG GTTACGAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGC CCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCA CTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACT AGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGT TACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCC TGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTACA GCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAG CACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744677	T T	TAGCACAG others(407): Show TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	196	0.0051	414	c.655 others(431): Show c.655-9320_655-9319insTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744677	T T	TAGCAGAG others(407): Show TAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGC ACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02922.hp2 HG01168.hp1 HG01169.hp1 HG02922.hp2	a0001 a0001	a0001c0012 a0001c0053 a0001c0012 a0001c0053	a0001c0012t0003 a0001c0053t0007 a0001c0012t0003 a0001c0053t0007	a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0053t0007g0122 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0053t0007g0122	3	196	0.0153	414	c.655 others(431): Show c.655-9329_655-9328insGAGCCCTGGCTACTAGCAGAGCCCTGGT TACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCC TGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACT ATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAG CACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTG CTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTG GCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGT CCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGTA CAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744883	C C	CCCTGGCT others(407): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0063 a0001c0035t0010g0063	1	196	0.0051	414	c.655 others(431): Show c.655-9104_655-9103insTTACGAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0053 a0001c0037t0053	a0001c0037t0053g0138 a0001c0037t0053g0138	1	196	0.0051	414	c.393 others(431): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0062 a0001c0011t0062	a0001c0011t0062g0114 a0001c0011t0062g0114	1	196	0.0051	414	c.393 others(431): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963587	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0098 a0001c0004t0014g0098	1	196	0.0051	414	c.393 others(431): Show c.3939+552_3939+553insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963587	G G	GTGCGGCC others(407): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0033 a0001c0032t0033	a0001c0032t0033g0039 a0001c0032t0033g0039	1	196	0.0051	414	c.393 others(431): Show c.3939+552_3939+553insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(407): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCC CTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCC CCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	232	0.0043	414	c.77 others(425): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCC CCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCC TCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTC CCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCC CCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTG others(407): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0179 a0001c0001t0008g0179	1	332	0.0030	414	c.632 others(431): Show c.632+8130_632+8131insGTTTATAAATACAGTATTTGTTTATAAA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATTTAT others(407): Show TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAA ATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	332	0.0030	414	c.632 others(431): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(407): Show TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAA ATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18991.hp2 NA18984.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0053 a0001c0002t0004g0047 a0001c0002t0004g0053	2	332	0.0060	414	c.632 others(431): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTGTTTAT others(407): Show TTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	332	0.0030	414	c.632 others(431): Show c.632+8263_632+8264insGTTTATAAATACTGTATTTGTTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERINC2_chr1_31408213_31439678	31431921	T T	TTAGGGTG others(407): Show TTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGAGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGTTAGAGTGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0224 a0001c0004t0016g0224	1	376	0.0027	414	c.101 others(433): Show c.1014-1037_1014-1036insCAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHOX_chrX_625791_656584	626428	C C	CGTTCCTC others(407): Show CGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTCTC TTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGT CTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTA TCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCT GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTC TCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCT CTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCT CTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTC TTTCTCTCTGTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG01071.hp2 others(21): Show HG00408.hp1 HG00423.hp2 HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01361.hp1 HG01884.hp1 HG01993.hp1 HG02818.hp1 HG06807.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18973.hp1 NA18980.hp2 NA18993.hp1 NA18998.hp1 NA19054.hp2 NA19057.hp1 NA19077.hp1 NA19081.hp2 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(20): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0032 a0001c0001t0045 a0001c0001t0054 a0001c0001t0056 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0066 a0001c0001t0070 a0001c0001t0088 a0001c0001t0100 a0001c0001t0102 a0001c0001t0114 a0001c0001t0115 a0001c0001t0121 a0001c0001t0125 a0001c0001t0136 a0001c0001t0146 a0001c0001t0198 a0004c0004t0076	a0001c0001t0001g0005 a0001c0001t0008g0130 a0001c0001t0012g0191 others(20): Show a0001c0001t0001g0005 a0001c0001t0008g0130 a0001c0001t0012g0191 a0001c0001t0032g0137 a0001c0001t0045g0198 a0001c0001t0054g0087 a0001c0001t0056g0090 a0001c0001t0059g0150 a0001c0001t0061g0009 a0001c0001t0064g0170 a0001c0001t0066g0173 a0001c0001t0070g0034 a0001c0001t0088g0175 a0001c0001t0100g0133 a0001c0001t0102g0100 a0001c0001t0114g0181 a0001c0001t0115g0195 a0001c0001t0121g0037 a0001c0001t0125g0008 a0001c0001t0136g0193 a0001c0001t0146g0182 a0001c0001t0198g0018 a0004c0004t0076g0012	24	220	0.1091	414	c.-44 others(425): Show c.-4470_-4469insGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCT CTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTC TGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCT CTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTC TCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTC TCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCT GTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTA TCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCT CTATCTCTGTCTCTCTTTCTCTCTGTCTTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4362		chrX	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(407): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGG GGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAG GGGGGAGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGA GGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGC GGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	222	0.0045	414	c.914 others(433): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCC TCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCC GCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCT CCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCC TCCCCCTCCCGCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCC CTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(407): Show CATATATGTACATATGTACATATATACATATGTGTATATATACATATATG TACATATGTACATATATACATATGTATATATGCATATATGTACATATGTA CATATATACATATGTATATATGCATATATGTACATATGTACATATATACA TATGTATATATGCATATATGTACATATGTACATATATACATATGTATATA TGCATATATGTACATATGTACATATATACATATGTATATATGCATATATG TACATATGTACATATATACATATGTATATATGCATATATGTACATATGTA CATATATACATATGTATATATGCATATATGTACATATGTACATATGTACA TATGTATATATGCATATATGTACATATGTACATATGTATATATACATATA TGTACATATGTACAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	182	0.0055	414	c.173 others(433): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TGTATATATACATATATGTACATATGTACATATATACATATGTATATATG CATATATGTACATATGTACATATATACATATGTATATATGCATATATGTA CATATGTACATATATACATATGTATATATGCATATATGTACATATGTACA TATATACATATGTATATATGCATATATGTACATATGTACATATATACATA TGTATATATGCATATATGTACATATGTACATATATACATATGTATATATG CATATATGTACATATGTACATATATACATATGTATATATGCATATATGTA CATATGTACATATGTACATATGTATATATGCATATATGTACATATGTACA TATGTATATATACATATATGTACATATGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(407): Show AATATAAATATATATATTATATATAATATAAATATATTATATATATTATA CATAAATATAAATATATTATATATATTATACATAAATATAAATATATTAT ATATATTATATATAATATAAATATATTATATATATTATATATAAATATAA ATATATTATATATATTATATATAAATATAAATATATTATATATTATATAA ATATAAATATATTATATATTATATAAATATAAATATATTATATATTATAT ATAAATATAAATATATTATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTAATATATTATATATAATATAAATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0252 a0002c0002t0011g0252	1	346	0.0029	414	c.-70 others(431): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTTATATT ATATATAATATATTAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATAATATATTTATATTTATATATAATATATAA TATATTTATATTTATATAATATATAATATATTTATATTTATATAATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTATATATAATATATATAATATATTTAT ATTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATA ATATATTTATATTATATATAATATATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(407): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAA TATATATAGTATATATTATATATTGTATATATTATATATTGTATATATAA TATATATATTGTATATATTATATATTGTATATATAATATATATATTGTAT ATATTATATATTGTATATATAATATATATATTGTATATATTATATATTGT ATATATAATATATATATTGTATATATTATATATTGTATATATAATATATA TATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTA TATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0151 a0001c0003t0001g0151	1	156	0.0064	414	c.176 others(431): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATAATATATACTATATATATTATATACAATAT ATAATATATACTATATATATTATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATATACAATATAA AATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1238409	G G	GGCCTGGA others(407): Show GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	456	0.0022	414	c.732 others(429): Show c.732+355_732+356insAGGACTCAGGAAAGACATCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(407): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCCCCAC CCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCTCACCCCG CAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGA CGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCC CGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	218	0.0046	414	c.212 others(433): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGAGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGTGGGGTGGAGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCG TCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTG CGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGG GTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGG GGATTCGGGCGTCTGCAGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1223139	T T	TCTCCCTG others(407): Show TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGATGGAGGGTGT CTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19030.hp1 NA19043.hp1 HG01109.hp2 NA19030.hp1 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0002c0033 a0003c0008 a0002c0005 a0002c0033 a0003c0008	a0002c0005t0001 a0002c0033t0001 a0003c0008t0001 a0002c0005t0001 a0002c0033t0001 a0003c0008t0001	a0002c0005t0001g0101 a0002c0033t0001g0119 a0003c0008t0001g0100 a0002c0005t0001g0101 a0002c0033t0001g0119 a0003c0008t0001g0100	3	190	0.0158	414	c.719 others(433): Show c.719+13958_719+13959insCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGCGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG TGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAGGCGGTGCAGGATGGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTG AATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGCCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(407): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTT ATATAATATATAAACATATAGTTTATATATTATATAAACATATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATACAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0074 a0005c0008t0006g0074	1	302	0.0033	414	c.12+ others(429): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATAAT ATATAAACATATAGTTTATATATTATATAAACATATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATACATATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(407): Show TATAATGATATATAATATATATCATCATATAACATATAATGATATATAAT ATATATCATCATATAACATATAATGATATATAATATATATCATCATATAA CATATAATGATATATAATATATATCATCATATAACATATAATGATATATA ATATATATCATCATATAACATATAATGATATATAATATATATCATCATAT AACATATAATGATATATAATATATATCATCATATAACATATAATGATATA TAATATATATCATCATATAACATATAATGATATATAATATATATCATCAT ATAACATATAATGATATATAATATATATCATCATATAACATATAATGATA TATAATATATATCATCATATAACATATAATGATATATAATATATATCATC ATATAACATATAATG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	356	0.0028	414	c.-11 others(435): Show c.-112+29225_-112+29226insATGATATATAATATATATCATCAT ATAACATATAATGATATATAATATATATCATCATATAACATATAATGATA TATAATATATATCATCATATAACATATAATGATATATAATATATATCATC ATATAACATATAATGATATATAATATATATCATCATATAACATATAATGA TATATAATATATATCATCATATAACATATAATGATATATAATATATATCA TCATATAACATATAATGATATATAATATATATCATCATATAACATATAAT GATATATAATATATATCATCATATAACATATAATGATATATAATATATAT CATCATATAACATATAATGATATATAATATATATCATCATATAACATATA ATGATATATAATATATATCATCATATAACATATAATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(407): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGG GAGGGGGGGGAGGGAGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGG GAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGG AGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	260	0.0039	414	c.138 others(433): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCC CTCCCCTCCCCCCCCTCCCCTCCCTCCCTCCCCCCCCTCCCCCTCCCCTC CCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCC TCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STK38L_chr12_27239286_27330959	27241748	A A	ATATATAT others(407): Show ATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGA CTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATT ACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGT TATATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTC TGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATTACA TATATGACTCTGTGTAGTTATATATATTACATATATGACTATGTATAGTT ATATATATTACATATATGACTATGTATAGTTATATATATTACATATATGA CTATGTAGTTATATATATTACATATATGACTATGTATAGTTATATATATT ACATATATGACTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	374	0.0027	414	c.-25 others(425): Show c.-2596_-2595insTATATATTACATATATGACTCTGTGTAGTTATAT ATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCT GTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACATAT ATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCTGTG TAGTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATA TGACTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATAT ATATTACATATATGACTATGTAGTTATATATATTACATATATGACTATGT ATAGTTATATATATTACATATATGACTATG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2537		chr12	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(407): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGC GGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGG GGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	314	0.0032	414	c.309 others(433): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCG CCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCACGCCCTCCCTC CCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCAC CCTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCC GCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCTGCCGTCTCCTC CTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCA CCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(407): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATC CACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCC ACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	258	0.0039	414	c.113 others(433): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATA CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACC ATCCCCCATCCTATCCACCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(407): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATC CACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCC ACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03239.hp1 HG02602.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0255 a0001c0001t0023g0116 a0001c0001t0002g0255 a0001c0001t0023g0116	2	258	0.0078	414	c.113 others(433): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATAC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCA TCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCC ACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCAC CCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCAC CCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCACCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(407): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCGTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATC CACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCC ACCCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	258	0.0039	414	c.113 others(433): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATAC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCA TCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCC ACATCCATCCTATCTACTCACCCCCATACCCATCGTATCCACCCACCCAC CATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCCAC CCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCAC CCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCACCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620608	C C	CTATCCAC others(407): Show CTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCAC CATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATC CATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCC CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACC ATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCA TACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACC CACCATCCCCCATCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	258	0.0039	414	c.113 others(433): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATA CCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCACCCACCCACC ATCCCCCATCCTATCCACCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620640	C C	CACCCACC others(407): Show CACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCC ATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCAT CCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCAT CCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCCC ATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATC CACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATAC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCA ACCCCCATCCTATCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	258	0.0039	414	c.113 others(433): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATAC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCA TCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCC ACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCAC CCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCAC CCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCAACCCCCATCCTATCTACCCACCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620645	A A	ACCCACCA others(407): Show ACCCACCATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTAT CTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCA TCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATC CTATCCACCCACCCACCATCCCCCATCGTATCCACCCACCCACCATCCCC CATCCTATCTACCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	258	0.0039	414	c.113 others(433): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATA CCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCACCCACCCACC ATCCCCCATCCTATCTACCCCCCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(407): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACATAAAACACACTCCACACATCATACACA CCACACACACTCCACACATCATACACACCACACACACTCCACACATCGTA CACAAAACACACTCCACACATCATACACAAAACACACTCCACACATCATA CACACCACATACACTCCACACATCATACACACACACTCCACACATCATAC ACAATACACACTCCACACATCATACACAATACACACTCCACACATCATAC ACACACACTCCACACATCATACACAATACACACTCCACACATCATACACA AAACACACTCCACACATCATACACACACACTCCACACATCATGCACAATA CACACACACTCCACA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18997.hp1 NA18945.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0279 a0001c0001t0002g0249 a0001c0001t0002g0279	2	378	0.0053	414	c.819 others(431): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGA GTGTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGA GTGTGTGTGGTGTGTATGATGTGTGGAGTGTGTGTGGTGTGTATGATGTG TGGAGTGTGTTTTATGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628465	A A	ATGAGGCG others(407): Show ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0336 a0001c0003t0005g0336	1	352	0.0028	414	c.299 others(431): Show c.299-1040_299-1039insCCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628904	C C	CAGGGGGT others(407): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0049 a0001c0007t0002g0049	1	352	0.0028	414	c.299 others(431): Show c.299-1479_299-1478insCATGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272751	A A	ACACATCA others(407): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	392	0.0026	414	c.228 others(431): Show c.2287-472_2287-471insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTG ATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272785	C C	CCACACAT others(407): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACATCAGACCCCACAACCGCCATCCACAGTCACATCAGACCC CCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACAACCGCCATCCACAGTCACATCAGACCCCCACAACCGC CATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	392	0.0026	414	c.228 others(431): Show c.2287-506_2287-505insTGGTGACTGTGGATGGCGGTTGTGGGGG TCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGA CTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273479	A A	ACATCAGA others(407): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	392	0.0026	414	c.228 others(433): Show c.2287-1200_2287-1199insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121748026	G G	GGTAGAAG others(407): Show GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGC GGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0261 a0001c0001t0041g0261	1	314	0.0032	414	c.189 others(429): Show c.189-284_189-283insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGACACTGAAGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS6_chr22_37060436_37114713	37097760	T T	TGTCCTGT others(407): Show TGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGG GAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCC TGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGA GAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGG GCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTAACGG AGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCAC CGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGG CAGGGGCGGGCCACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0027 a0001c0048t0001g0027	1	348	0.0029	414	c.336 others(429): Show c.336+655_336+656insGGTGGCCCGCCCCTGCCCCTCCGTTACAGG ACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCC CCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGT GGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTC CGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCC CTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTT ACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGACGGTGGCCGCTC CTGCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGG ACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGAC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097760	T T	TGTCCTGT others(407): Show TGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGG GAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACTGTCC TGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGA GAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGG GCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTAACGG AGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCAC CGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGG CAGGGGCGGGCCACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG02818.hp2 others(2): Show HG01243.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0007 a0001c0004 a0001c0005 a0001c0007	a0001c0004t0005 a0001c0004t0012 a0001c0005t0001 others(2): Show a0001c0004t0005 a0001c0004t0012 a0001c0005t0001 a0001c0005t0006 a0001c0007t0001	a0001c0004t0005g0268 a0001c0004t0012g0341 a0001c0005t0001g0074 others(2): Show a0001c0004t0005g0268 a0001c0004t0012g0341 a0001c0005t0001g0074 a0001c0005t0006g0075 a0001c0007t0001g0163	5	348	0.0144	414	c.336 others(429): Show c.336+655_336+656insGGTGGCCCGCCCCTGCCCCTCCGTTACAGG ACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCC CCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGT GGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTC CGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCC CTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTT ACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGACAGTGGCCGCTC CTGCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGG ACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGAC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097760	T T	TGTCCTGT others(407): Show TGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAATGGAGGGG GAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACTGTCC TGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGA GAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGG GCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTAACGG AGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCAC CGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGG CAGGGGCGGGCCACC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03017.hp2 HG03491.hp2 others(3): Show HG01106.hp2 HG03017.hp2 HG03491.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0071 a0001c0072 a0003c0035 others(2): Show a0001c0071 a0001c0072 a0003c0035 a0003c0049 a0009c0073	a0001c0071t0001 a0001c0072t0001 a0003c0035t0001 others(2): Show a0001c0071t0001 a0001c0072t0001 a0003c0035t0001 a0003c0049t0001 a0009c0073t0005	a0001c0071t0001g0278 a0001c0072t0001g0023 a0003c0035t0001g0013 others(3): Show a0001c0071t0001g0278 a0001c0072t0001g0023 a0003c0035t0001g0013 a0003c0035t0001g0117 a0003c0049t0001g0034 a0009c0073t0005g0016	6	348	0.0172	414	c.336 others(429): Show c.336+655_336+656insGGTGGCCCGCCCCTGCCCCTCCGTTACAGG ACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCC CCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGT GGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTC CGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCC CTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTT ACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGACAGTGGCCGCTC CTGCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCATTACAGG ACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGAC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097943	A A	AGGGCCAC others(407): Show AGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGG CCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAG GGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACC GTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGG AGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCT GTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAG CGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02572.hp2 others(4): Show HG01884.hp2 HG01891.hp2 HG02572.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp2 HG03516.hp2	a0001 a0005 a0022 a0001 a0005 a0022	a0001c0006 a0001c0055 a0005c0024 others(1): Show a0001c0006 a0001c0055 a0005c0024 a0022c0053	a0001c0006t0001 a0001c0055t0001 a0005c0024t0001 others(1): Show a0001c0006t0001 a0001c0055t0001 a0005c0024t0001 a0022c0053t0001	a0001c0006t0001g0088 a0001c0006t0001g0089 a0001c0055t0001g0316 others(3): Show a0001c0006t0001g0088 a0001c0006t0001g0089 a0001c0055t0001g0316 a0005c0024t0001g0002 a0005c0024t0001g0095 a0022c0053t0001g0090	7	348	0.0201	414	c.336 others(429): Show c.336+472_336+473insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCT CCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAG GACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTC CCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACG GTGGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCACTCCTCCCCCT CCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097943	A A	AGGGCCAC others(407): Show AGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGG CCACCGTCCTGTAACGGAGGGGTAGGAGCGGCCACCGTCCTGTAACGGAG GGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACC GTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGG AGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCT GTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAG CGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 HG02698.hp2 others(1): Show HG00558.hp1 HG02080.hp1 HG02698.hp2 NA20905.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0006 a0003c0002 a0011c0076 a0001c0006 a0003c0002 a0011c0076	a0001c0006t0001 a0003c0002t0001 a0011c0076t0001 a0001c0006t0001 a0003c0002t0001 a0011c0076t0001	a0001c0006t0001g0115 a0003c0002t0001g0139 a0003c0002t0001g0296 others(1): Show a0001c0006t0001g0115 a0003c0002t0001g0139 a0003c0002t0001g0296 a0011c0076t0001g0152	4	348	0.0115	414	c.336 others(429): Show c.336+472_336+473insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCT CCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAG GACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTC CCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACG GTGGCCGCTCCTACCCCTCCGTTACAGGACGGTGGCCCACTCCTCCCCCT CCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097943	A A	AGGGCCAC others(407): Show AGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGCAGGAGTGGG CCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTAACGGA GGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGAGCCACC GTCCTGTAATGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGGC AGGGGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAAGAG CGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0069 a0001c0009t0001g0069	1	348	0.0029	414	c.336 others(429): Show c.336+472_336+473insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCTTCCCCCTCCGT TACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCC CCTCCCCCTCCGTTACAGGACGGTGGCCCGCCCCTGCCCCTCCGTTACAG GACGGTGGCCCGCCCCTCCCCCTCCATTACAGGACGGTGGCTCGCTCCTC CCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGG TGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCACTCCTGCCCCT CCGTTACAGGACGGTGGCCCACTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097943	A A	AGGGCCAC others(407): Show AGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGG CCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAG GGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACC GTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGG AGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCT GTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAG CGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00673.hp1 others(57): Show HG00140.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp2 NA18950.hp1 NA18999.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19068.hp2 NA19079.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0016	a0001c0004 a0001c0005 a0001c0006 others(12): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0021 a0002c0012 a0002c0014 a0002c0032 a0002c0036 a0003c0002 a0004c0003 a0004c0069 a0005c0025 a0016c0045	a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 others(20): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0017t0001 a0001c0021t0001 a0002c0012t0001 a0002c0014t0001 a0002c0032t0001 a0002c0036t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0069t0001 a0005c0025t0001 a0016c0045t0001	a0001c0004t0001g0157 a0001c0004t0001g0317 a0001c0004t0002g0322 others(55): Show a0001c0004t0001g0157 a0001c0004t0001g0317 a0001c0004t0002g0322 a0001c0004t0002g0331 a0001c0004t0002g0332 a0001c0004t0002g0334 a0001c0004t0002g0335 a0001c0004t0006g0144 a0001c0004t0006g0147 a0001c0005t0001g0148 a0001c0005t0002g0320 a0001c0005t0002g0336 a0001c0006t0001g0101 a0001c0006t0001g0102 a0001c0006t0001g0145 a0001c0006t0001g0164 a0001c0007t0001g0160 a0001c0007t0001g0161 a0001c0007t0001g0162 a0001c0017t0001g0143 a0001c0017t0001g0149 a0001c0017t0001g0150 a0001c0021t0001g0076 a0001c0021t0001g0077 a0002c0012t0001g0318 a0002c0014t0001g0290 a0002c0032t0001g0292 a0002c0036t0001g0305 a0003c0002t0001g0116 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0146 a0003c0002t0001g0155 a0003c0002t0001g0208 a0003c0002t0001g0294 a0003c0002t0002g0330 a0003c0002t0002g0333 a0003c0002t0002g0337 a0003c0002t0003g0156 a0004c0003t0001g0006 a0004c0003t0001g0028 a0004c0003t0001g0154 a0004c0003t0001g0254 a0004c0003t0001g0304 a0004c0003t0002g0321 a0004c0003t0003g0005 a0004c0003t0003g0093 a0004c0003t0004g0253 a0004c0003t0004g0255 a0004c0003t0004g0288 a0004c0003t0004g0289 a0004c0003t0004g0291 a0004c0069t0001g0295 a0005c0025t0001g0025 a0005c0025t0001g0026 a0005c0025t0001g0094 a0016c0045t0001g0072	60	348	0.1724	414	c.336 others(429): Show c.336+472_336+473insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCT CCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAG GACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTC CCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACG GTGGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCACTCCTCCCCCT CCGTTACAGGACGGTGGCCCACTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097943	A A	AGGGCCAC others(407): Show AGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGG CCACCGTCCTGTAACGGAGGGGTAGGAGCGGCCACCGTCCTGTAACGGAG GGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACC GTCCTGTAACGGAGGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGG AGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCT GTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAG CGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00733.hp1 others(48): Show HG00438.hp2 HG00597.hp2 HG00733.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02523.hp1 HG02735.hp1 HG03927.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18987.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA19090.hp2 NA19091.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0020	a0001c0005 a0001c0006 a0001c0009 others(10): Show a0001c0005 a0001c0006 a0001c0009 a0001c0017 a0001c0039 a0001c0054 a0003c0002 a0003c0010 a0003c0018 a0003c0029 a0003c0056 a0004c0003 a0020c0058	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(14): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0017t0008 a0001c0039t0001 a0001c0054t0001 a0003c0002t0001 a0003c0002t0003 a0003c0002t0004 a0003c0010t0001 a0003c0018t0001 a0003c0029t0001 a0003c0056t0001 a0004c0003t0001 a0004c0003t0004 a0020c0058t0005	a0001c0005t0001g0082 a0001c0005t0001g0120 a0001c0005t0001g0121 others(47): Show a0001c0005t0001g0082 a0001c0005t0001g0120 a0001c0005t0001g0121 a0001c0005t0001g0153 a0001c0005t0001g0203 a0001c0005t0001g0233 a0001c0005t0001g0250 a0001c0005t0001g0279 a0001c0005t0002g0007 a0001c0006t0001g0123 a0001c0006t0001g0124 a0001c0006t0001g0128 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0134 a0001c0006t0001g0302 a0001c0009t0001g0063 a0001c0017t0008g0283 a0001c0017t0008g0284 a0001c0039t0001g0267 a0001c0054t0001g0129 a0003c0002t0001g0133 a0003c0002t0001g0137 a0003c0002t0001g0138 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0231 a0003c0002t0001g0235 a0003c0002t0001g0249 a0003c0002t0001g0251 a0003c0002t0001g0252 a0003c0002t0001g0270 a0003c0002t0001g0306 a0003c0002t0003g0112 a0003c0002t0003g0230 a0003c0002t0003g0232 a0003c0002t0003g0234 a0003c0002t0003g0236 a0003c0002t0003g0237 a0003c0002t0004g0229 a0003c0010t0001g0132 a0003c0010t0001g0135 a0003c0010t0001g0266 a0003c0018t0001g0273 a0003c0029t0001g0125 a0003c0029t0001g0126 a0003c0056t0001g0282 a0004c0003t0001g0136 a0004c0003t0004g0122 a0020c0058t0005g0127	51	348	0.1466	414	c.336 others(429): Show c.336+472_336+473insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCT CCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAG GACGGTGGCCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTC CCCCTCCGTTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACG GTGGCCGCTCCTACCCCTCCGTTACAGGACGGTGGCCCACTCCTCCCCCT CCGTTACAGGACGGTGGCCCACTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar

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Search Results (Total: 10000 hits)