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 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
THEG_chr19_356747_381026	377261	T T	TCTGTGCC others(623): Show TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	370	0.0027	630	c.-12 others(641): Show c.-1292_-1291insGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGG GTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1236		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(623): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	256	0.0039	630	c.924 others(647): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(623): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTGTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0247 a0001c0001t0018g0247	1	256	0.0039	630	c.924 others(647): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(623): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0030 a0010c0013t0030	a0010c0013t0030g0193 a0010c0013t0030g0193	1	256	0.0039	630	c.924 others(647): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(623): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT GTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	256	0.0039	630	c.924 others(647): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(623): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0350 a0003c0003t0001g0350	1	444	0.0023	630	c.227 others(649): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(623): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	444	0.0023	630	c.227 others(649): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(623): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0394 a0003c0003t0003g0394	1	444	0.0023	630	c.227 others(649): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747351	G G	GCTGGGGT others(623): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	314	0.0032	630	c.189 others(645): Show c.189-962_189-961insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747613	G G	GCTGGGGT others(623): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0304 a0002c0002t0022g0304	1	314	0.0032	630	c.189 others(645): Show c.189-700_189-699insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(623): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01978.hp2 HG00741.hp1 HG01167.hp2 HG01978.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0022 a0003c0005t0023 a0001c0001t0001 a0001c0001t0022 a0003c0005t0023	a0001c0001t0001g0082 a0001c0001t0022g0086 a0003c0005t0023g0088 a0001c0001t0001g0082 a0001c0001t0022g0086 a0003c0005t0023g0088	3	94	0.0319	630	c.129 others(651): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTG GAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(623): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG01884.hp2 HG02145.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0009 a0001c0001t0003 a0002c0003t0009	a0001c0001t0003g0050 a0002c0003t0009g0022 a0001c0001t0003g0050 a0002c0003t0009g0022	2	94	0.0213	630	c.129 others(651): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474574	A A	AGTGAGGG others(623): Show AGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAGG GGTGAGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGT GAGGGGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGA AGGCATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTG AAGGGGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGG TGAATGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGG GTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTG AGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGG GGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGA GGGGGTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGA GGTGGTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTG AGGGGGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGG TGAGGAGGTGAGTGAGGGTTGAGGGAGTGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0074 a0001c0002t0009g0074	1	382	0.0026	630	c.728 others(647): Show c.728-1079_728-1078insCTCACTCCCTCAACCCTCACTCACCTCC TCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCACCC CCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCACC ACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCACC CCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTCA ACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCTC ACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTACT TACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCAT TCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCCC CTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATG CCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCCC CTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTACTC ACCCCTCACCCCCTCACTCACCACCTCACCCACCCCTCACCCACCCCCTC AC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930739	G G	GCTGGGGT others(623): Show GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA GGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGG TTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGGAGGCCGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCAGGGATTATGGAGGCAGGGAT TAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC TGGGGTTAGGGAGACCAAGGGTCAGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0067 a0002c0002t0011g0067	1	466	0.0022	630	c.48 others(641): Show c.4851_*4852insGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATC CCTGCCTCCATAATCCCTGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCGGCCTCCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCC CTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGG CCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4630		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(623): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02056.hp2 HG02109.hp2 others(4): Show HG00558.hp1 HG02056.hp2 HG02109.hp2 HG03491.hp2 HG03492.hp1 NA19062.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0002 a0001c0001t0002 a0001c0015t0002	a0001c0001t0002g0003 a0001c0015t0002g0003 a0001c0001t0002g0003 a0001c0015t0002g0003	7	272	0.0257	630	c.28 others(641): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATATTATATATATAAAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATT ATATATATATAAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097516	T T	TGTGTGTG others(623): Show TGTGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTG TGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATA TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGTGTATATACATATACACGCGTGTGTATATACACATATACACGCGTG TGTATATACACATATACACGCGTGTGTATATACACATATACACGCGTGTG TATATACACATATACACGCGTGTGTATATACACATATACACGCGTGTGTA TATACACATATACACGCGTGTGTATATACACATATACACGCGTGTGTATA TACACATATACACGCGTGTGTATATACACATATACACGCGTGTGTATATA CACATATACACGCGTGTGTATATACACATATACACGCGTGTGTATATACA CATATACACGCGTGTGTATATACACATATACACGCGTGTGTATATACACA TATACACGCGTGTGTATATACACATATACACGCGTGTGTATATACACATA TACACGCGTGTGTATATACACATATACACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	334	0.0030	630	c.-47 others(641): Show c.-4736_-4735insGCGTGTATATGTGTATATACACACGCGTGTATAT GTGTATATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGT GTATATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGT ATATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTAT ATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATAT ACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATATAC ACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATATACAC ACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATATACACAC GCGTGTATATGTGTATATACACACGCGTGTATATGTATATACACACGCGT GTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATAT GTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATAT ACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACAC GCGTGTATATGTATATACACACGCGTGTATATGTATATACACACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4710		chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(623): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0082	1	174	0.0058	630	c.41- others(647): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATACTATATCATCATATGATATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(623): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATATACTATATCATCATATGATATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0155 a0001c0001t0078g0155	1	174	0.0058	630	c.41- others(647): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATATAC TATATCATCATATGATATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(623): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0060	1	174	0.0058	630	c.41- others(647): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATACTATATCATCATATGATATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(623): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0193 a0001c0001t0016g0193	1	344	0.0029	630	c.218 others(647): Show c.2182+127_2182+128insAGGCTGTGGGACGGGGGTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169730	T T	TCCCCACA others(623): Show TCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACA CACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC CTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACGTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCCCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCC TCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACTTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCCACACACCACCTCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0025 a0007c0007t0006g0025	1	115	0.0087	630	c.30 others(639): Show c.301_*302insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGACGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		213		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533128	C C	CCCTCCCC others(623): Show CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCCCCTCCCCCCCACACACCACC TCTTCCTCCTCCCTCCCCCACACACCACCTCTCCCCTCCCTCCCTCCCCA CACACCTCCTCTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTC CCCCCCCACAACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	74	0.0135	630	c.61 others(639): Show c.616_*617insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTTGTGGGGGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAGAGGAGGTGTGTGGGG AGGGAGGGAGGGGAGAGGTGGTGTGTGGGGGAGGGAGGAGGAAGAGGTGG TGTGTGGGGGGGAGGGGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		489		chrX	TogoVar
WDR81_chr17_1719704_1743585	1739952	C C	CAGGGAGT others(623): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCC CGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGGGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0002 a0005c0008t0003g0002	1	431	0.0023	630	c.22 others(641): Show c.2267_*2268insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGAC AGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG GGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1368		chr17	TogoVar
WDR81_chr17_1719704_1743585	1741247	G G	GAGCCTGA others(623): Show GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCTGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC TGGACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTG GGAGGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG TAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0003 a0001c0069t0003	a0001c0069t0003g0002 a0001c0069t0003g0002	1	431	0.0023	630	c.35 others(641): Show c.3562_*3563insAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAGGGGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGTAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2663		chr17	TogoVar
ZDHHC20_chr13_21367571_21464303	21377234	A A	ACTCTGCC others(623): Show ACTCTGCCCTGCGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCC CGACATGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGA CCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGACGTGACCTCCACCCC TAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCT GCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTG ACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCC CGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGA CCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACC CCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGC CTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATC TGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTG CCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGT GACCTCCACCCCTAGTGCCTGTGATCTGACT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	302	0.0033	630	c.41 others(645): Show c.41-580_*41-579insAGTCAGATCACAGGCACTAGGGGTGGAGGT CACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGG GCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTC AGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCA GGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAG GGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAG GTCACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTC GGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAG TCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCG CAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACT AGGGGTGGAGGTCACGTCGGGCAGTCAGATCACAGGCACTAGGGGTGGAG GTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCATGTC GGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGCAGGGCAGAG	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(624): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAAT GAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGT GGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAA TGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGG ATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGG GATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATA AATGGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0001 a0002c0074t0001	a0002c0074t0001g0185 a0002c0074t0001g0185	1	357	0.0028	631	c.278 others(650): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTAGCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACCCATTTAGCCATCCC ACCCACCCATTTATCCATCCCACCCACCCATTTAGCCATCCCACCCACCC ATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCC ATCCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACC CACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCCCTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCCCTCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCAT CCCACCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTC ATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(624): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACA TCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCT CAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCC ACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT CAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACAC ATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACC TCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	337	0.0030	631	c.61+ others(646): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGG GTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGT GATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATG TCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTG TGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTT G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(624): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	631	c.-10 others(642): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATA TATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTAT ATATTTATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADGRA1_chr10_133082924_133136675	133111297	C C	CACCACAG others(624): Show CACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCTCCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0344 a0001c0003t0009g0344	1	368	0.0027	631	c.401 others(648): Show c.401+8455_401+8456insACCACAGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGC CCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACAG others(624): Show CACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAG ACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	368	0.0027	631	c.401 others(648): Show c.401+8833_401+8834insACCACAGGCACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATC CCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(624): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	268	0.0037	631	c.-37 others(642): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(624): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG04204.hp1 HG00738.hp2 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0004 a0002c0002t0001 a0003c0004t0004	a0002c0002t0001g0010 a0003c0004t0004g0005 a0002c0002t0001g0010 a0003c0004t0004g0005	2	268	0.0075	631	c.-37 others(642): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(624): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	268	0.0037	631	c.-37 others(642): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(624): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCT CCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0141 a0001c0002t0040g0141	1	292	0.0034	631	c.207 others(652): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
C20orf96_chr20_265863_295750	279046	G G	GGGAGGGC others(624): Show GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGA GGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGG GACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGA GGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGG GACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0274 a0002c0007t0001g0274	1	410	0.0024	631	c.465 others(646): Show c.465+125_465+126insGTCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGC CCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCCTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTC CCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTC C	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279065	A A	AGGGAGGG others(624): Show AGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGG CGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAG GGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGG AGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGG AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGG AGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGG AGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGAGGGAGGGACGGAGGGCGGGACGGAGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG03579.hp1 HG02109.hp1 HG02922.hp2 HG03579.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0008 a0002c0007t0001g0042 a0002c0007t0001g0008 a0002c0007t0001g0042	3	410	0.0073	631	c.465 others(646): Show c.465+106_465+107insGCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGT CCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCC CTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCT CCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCT CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCC CGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGT CCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC C	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CFAP46_chr10_132803392_132947570	132820951	T T	TGTGCTGT others(624): Show TGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCTGTGTGTGTGCTGATGT GTGCTGTGTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGAGTGCTGA TGTGTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGAGTGCTGATGTG TGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGAGTGCTGTGTGCTGTG TGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTGTGCACTGATGTGTGC TGTGTGTGTGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGAGTGC TGATGTGTGCTGTGTGTGCTGATGTGTGTTGTGTGTGCTGTGTGAGTGCT GATGTGTGCTGTGTGCGCTGTGTGCTGTGTGCTGATGTGTGCTGATGTGT GCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTG CTGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGT GTGAGTGCTGATGTGTGCTGTGTGTTGTGTGAGTGCTGATGTGTGCTGTC TGTGCGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGTGCTGATGT GTGCTGTGTGTGCAGTGATGTGTGTTGTGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0230 a0038c0037t0001g0230	1	246	0.0041	631	c.711 others(650): Show c.7118-6038_7118-6037insTCACACAACACACATCACTGCACACA CAGCACACATCAGCACACACAGCACACATCAGCGCTCACACAGCACACAG CGCACAGACAGCACACATCAGCACTCACACAACACACAGCACACATCAGC ACTCACACAGCACACAGCACACACACAGCACACATCAGCGCACACACAGC ACACAGCACACACACAGCACACATCAGCGCACACACAGCACACGTCAGCA CACAGCACACATCAGCACACATCAGCACACAGCACACAGCGCACACAGCA CACATCAGCACTCACACAGCACACACAACACACATCAGCACACACAGCAC ACATCAGCACTCACACAGCACACATCAGCGCTCACACAGCACACAGCACA CACACAGCACACATCAGTGCACACACAGCACACAGCACACACAGCACACA TCAGCACACAGCACACAGCACTCACACAGCACACACAACACACAGCACAC ACAGCACACATCAGCACTCACACAGCACACACAACACACAGCACACACAG CACACATCAGCACTCACACAGCACACATCAGCGCTCACACAGCACACACA CAGCACACATCAGCACACACACAGCACACAGCACACATCAGCACTCACAC AGCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CHMP1A_chr16_89639435_89662708	89648278	A A	AGACCCAG others(624): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGA CCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGC GGGGTCCGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0054 a0001c0004t0003g0054	1	392	0.0026	631	c.253 others(646): Show c.253-948_253-947insCCCACGTCGGCGGCCTTTTCTCCACGGACC CCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCC GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCCCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTGGGTCC CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCG CGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGT C	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAT others(624): Show ATATATATAATATATATATAACATATATAATATATATATAACATATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATTA TATATATATAACATATATATATAATATATATATAACATATATAATATATA TATAACATATATATAATATATATATAACATATATATAATATATATATAAC ATATATAATATATATATAACATATATATAATATATATATAACATATATAT ATTATATATATAACATATATATATTATATATATAACATATATATATTATA TATAACATATATATATAATATATATATAACATATATATATTATATATATA ACATATATATTATATATATAACATATATATTATATATATAACATATATAT TATATATATAACATATATATTATATATATAACATATATATTATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATATAATATATATATAACATATATATATATAATATATATATAAC ATATATATATAATATATATATAACATATATATATAATATATATATAACAT ATATATATAATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0066	1	232	0.0043	631	c.358 others(650): Show c.358+17288_358+17289insTATATATAATATATATATAACATATA TAATATATATATAACATATATATATAATATATATAACATATATATATAAT ATATATATAACATATATATATTATATATATATAACATATATATATAATAT ATATATAACATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATATAACATATATAATATATATATAACATATATA TAATATATATATAACATATATATATTATATATATAACATATATATATTAT ATATATAACATATATATATTATATATAACATATATATATAATATATATAT AACATATATATATTATATATATAACATATATATTATATATATAACATATA TATTATATATATAACATATATATTATATATATAACATATATATTATATAT ATAACATATATATTATATATATAACATATATATATAATATATATATAACA TATATATATAATATATATATAACATATATATATAATATATATATAACATA TATATATATAATATATATATAACATATATATATAATATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(624): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATATATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATA TATATAAATATATAAATATATGTAAATATATATAAATATATATATAAATA TATATATAATATATATATAAATATATATATAAATATATATATATAAATAT ATATAAATATATAACTATATAAATAAATATATATAAATATATAAATATAT AAAAATATATATAAATATATATGTAAATATATAAATATATATAAATATAT ATAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAAA TATATATATAAATATATATAAGTATATAAATATATATATAAATATATATA AGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATATAAATATATATAATATATATAAGTATATATAAAT ATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	264	0.0038	631	c.181 others(650): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTATATATATTTATATATACTTA TATATATTTATATATATATTTATATACTTATATATATTTATATATATTTA TATACTTATATATATTTATATATATATTTATATACTTATATATATTTATA TATATATTTATATACTTATATATATTTATATATATTTATATACTTATATA TATTATATATATTTATATATATTTATATATTTACATATATATTTATATAT ATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATATAT TTATATATATTTATATATATATATTTATATATATATTTATATATATATTA TATATATATTTATATATATATTTATATATATTTACATATATTTATATATT TATATATATTTATATTTTTTTATATATTTATATATATTTTTATATATATT TATATATTTATAAATATATATATATTTATATATTTATAAATATATATATA TTTATATATATATAAATATATTTATATTTATATATATTTACATATATATT TAGAATTACATATTTATATATATATTTATATTTATATATATTTATATATA TTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(624): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCATGTTTGTGGAGGTGTATG CATGCGTGTGCATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGG TGTGTGTGCACGTGTGTGTGTGCATGTTTGTGGAGGTGTGTGTATGTGTG TAATGTGTGTATGCACGTTTGTGGAGGTGTATGTGTGGAGGTGTGTGTGT ATGTGTGCAGTGCATGTGTGCATGTTTGTGGAGGTGTATGCATGCGTGTG CATTTGTGAAGGTGTGTGAGTGTGTGCACGTTTGTGGAGGTGTGTGTGCA CGTGTGTGTGTGCATGTTTGTGGAGGTGTGTATATGTGTACACATGCGTG TGTGCGTTTGTGGAGGTGTATGTGTGTACGTGTGTGTGCATGTTTGTGGT GGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCATGCACATTTG TGGACGTGTGTGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTG CATGTATGCATGTTTGTGGAGGTGTGTGTGTACATGTGTGTATGCATGTT TGTGGAGGTGTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0009 a0001c0002t0003g0009	1	158	0.0063	631	c.275 others(650): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACCTCCACAAACATGCA TACATGCACGCGCACACACACCTCCACAAACATGCACACACACGCACACA CGTCCACAAATGTGCATGCACGTGCACACATACACACCTCCACACATACA CATACCACCACAAACATGCACACACACGTACACACATACACCTCCACAAA CGCACACACGCATGTGTACACATATACACACCTCCACAAACATGCACACA CACACGTGCACACACACCTCCACAAACGTGCACACACTCACACACCTTCA CAAATGCACACGCATGCATACACCTCCACAAACATGCACACATGCACTGC ACACATACACACACACCTCCACACATACACCTCCACAAACGTGCATACAC ACATTACACACATACACACACCTCCACAAACATGCACACACACACGTGCA CACACACCTCCACAAACGTGCACACACTCACACACCTTCACAAATGCACA CGCATGCATACACCTCCACAAACATGCACACATACACACACACCTCCACA CATACACCTCCACAAACATGCATACACACATTACACACATACACACACCT CCACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGATCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	326	0.0031	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGATCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03239.hp2 HG02129.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0129 a0001c0001t0001g0135	2	326	0.0061	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CCGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	326	0.0031	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	326	0.0031	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC TGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0235 a0001c0002t0007g0235	1	326	0.0031	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0056 a0001c0002t0004g0056	1	326	0.0031	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCATCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02486.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0071 a0001c0001t0001g0072	2	326	0.0061	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGATGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01952.hp2 HG01975.hp1 others(7): Show HG00544.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02523.hp1 HG03831.hp1 NA19010.hp1 NA19054.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0080 a0001c0002t0003g0104 others(7): Show a0001c0002t0003g0068 a0001c0002t0003g0080 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0120 a0001c0002t0003g0261	10	326	0.0307	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01361.hp2 others(18): Show HG00140.hp1 HG01243.hp1 HG01361.hp2 HG01934.hp1 HG01993.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03669.hp2 HG04199.hp1 HG04228.hp2 NA18963.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0007	a0001c0001t0001g0015 a0001c0001t0001g0257 a0001c0001t0001g0271 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0257 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0319 a0001c0001t0004g0308 a0001c0001t0005g0258 a0001c0001t0009g0252 a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0007g0238	21	326	0.0644	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar

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Search Results (Total: 10000 hits)