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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL23A1_chr5_178232618_178595393	178525250	A A	AGGACCCG others(833): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	236	0.0042	840	c.361 others(859): Show c.361+35431_361+35432insCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCC		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(833): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTTACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0186 a0003c0007t0008g0186	1	372	0.0027	840	c.180 others(859): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTTACAGCGTGTGGATAGGCC GTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATAGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(833): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02109.hp2 others(2): Show HG01070.hp2 HG01071.hp1 HG02109.hp2 HG02148.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0016 a0003c0007 a0003c0018 a0001c0016 a0003c0007 a0003c0018	a0001c0016t0007 a0003c0007t0006 a0003c0007t0020 others(1): Show a0001c0016t0007 a0003c0007t0006 a0003c0007t0020 a0003c0018t0006	a0001c0016t0007g0224 a0001c0016t0007g0225 a0003c0007t0006g0119 others(2): Show a0001c0016t0007g0224 a0001c0016t0007g0225 a0003c0007t0006g0119 a0003c0007t0020g0120 a0003c0018t0006g0121	5	372	0.0134	840	c.180 others(859): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTTACAGCGTGTGGATAGGCC GTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATAGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(833): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACTGTGGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0030 a0003c0007t0030	a0003c0007t0030g0352 a0003c0007t0030g0352	1	372	0.0027	840	c.180 others(859): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTTACAGCGTGTGGATAGGCC GTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATAGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACTGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(833): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0105 a0001c0001 a0003c0105	a0001c0001t0001 a0003c0105t0011 a0001c0001t0001 a0003c0105t0011	a0001c0001t0001g0001 a0003c0105t0011g0168 a0001c0001t0001g0001 a0003c0105t0011g0168	3	372	0.0081	840	c.180 others(859): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTTACAGCGTGTGGATAGGCC GTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(833): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0002 a0003c0010t0004g0002	2	372	0.0054	840	c.180 others(859): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCC GTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATAGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(833): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0347 a0003c0007t0004g0347	1	372	0.0027	840	c.180 others(859): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCC GTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(833): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0169 a0003c0007t0005g0169	1	372	0.0027	840	c.180 others(859): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTTACAGCGTGTGGATAGGCC GTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATAGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385906	T T	TTACAGTG others(833): Show TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTT ACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGACTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGG CTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGGTTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTG TGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0140 a0001c0004t0003g0140	1	372	0.0027	840	c.180 others(859): Show c.180+28359_180+28360insTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGCGTGTG GATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGA TAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCT GCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTG GATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGA TGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATG GACCGTGGCTACAG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385906	T T	TTACAGTG others(833): Show TTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTT ACAGTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTAC AGTGTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTG TGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGG CTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATAGGCCGTGGCTACAGTGTGTGGATGGGCCGTGGTTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTG TGTGGATGGGCCGTGGCTACAGTGTGTGGATGGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01257.hp1 others(15): Show HG01106.hp1 HG01168.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG02257.hp2 HG02300.hp1 HG02622.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03834.hp2 HG04184.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0037 a0001c0046 others(12): Show a0001c0001 a0001c0037 a0001c0046 a0001c0119 a0002c0006 a0002c0019 a0002c0063 a0003c0007 a0003c0010 a0003c0018 a0003c0040 a0003c0070 a0004c0089 a0007c0031 a0007c0060	a0001c0001t0003 a0001c0037t0020 a0001c0046t0009 others(14): Show a0001c0001t0003 a0001c0037t0020 a0001c0046t0009 a0001c0119t0032 a0002c0006t0006 a0002c0019t0002 a0002c0063t0007 a0003c0007t0001 a0003c0007t0005 a0003c0010t0006 a0003c0018t0004 a0003c0018t0005 a0003c0040t0002 a0003c0070t0005 a0004c0089t0005 a0007c0031t0009 a0007c0060t0015	a0001c0001t0003g0124 a0001c0037t0020g0069 a0001c0046t0009g0171 others(15): Show a0001c0001t0003g0124 a0001c0037t0020g0069 a0001c0046t0009g0171 a0001c0119t0032g0005 a0002c0006t0006g0066 a0002c0019t0002g0303 a0002c0063t0007g0147 a0003c0007t0001g0031 a0003c0007t0005g0221 a0003c0010t0006g0134 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0040t0002g0261 a0003c0070t0005g0226 a0004c0089t0005g0187 a0007c0031t0009g0042 a0007c0060t0015g0264	18	372	0.0484	840	c.180 others(859): Show c.180+28359_180+28360insTGTGTGGATGGACCGTGGTTACAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCAGTGTG TGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGCGTGTG GATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGA TAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGT GGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCT GCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTGTG GATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGA TGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATG GACCGTGGCTACAG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(833): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATC CATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGC ATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCAT CCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCAT CCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp2 HG01106.hp1 others(30): Show HG00280.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp2 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0013 a0001 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0018 a0001c0019 a0001c0025 a0001c0026 a0001c0044 a0001c0049 a0011c0035 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0001c0003t0032 a0001c0004t0001 a0001c0005t0009 a0001c0005t0014 a0001c0005t0045 a0001c0005t0050 a0001c0006t0001 a0001c0006t0004 a0001c0010t0001 a0001c0010t0026 a0001c0011t0001 a0001c0018t0008 a0001c0019t0022 a0001c0025t0015 a0001c0026t0041 a0001c0044t0057 a0001c0049t0003 a0011c0035t0012 a0013c0055t0007	a0001c0001t0001g0212 a0001c0001t0002g0243 a0001c0001t0009g0109 others(29): Show a0001c0001t0001g0212 a0001c0001t0002g0243 a0001c0001t0009g0109 a0001c0001t0009g0233 a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0003t0001g0196 a0001c0003t0001g0205 a0001c0003t0002g0001 a0001c0003t0007g0003 a0001c0003t0010g0039 a0001c0003t0032g0004 a0001c0004t0001g0204 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0010t0026g0049 a0001c0011t0001g0206 a0001c0018t0008g0182 a0001c0019t0022g0231 a0001c0025t0015g0007 a0001c0026t0041g0036 a0001c0044t0057g0042 a0001c0049t0003g0183 a0011c0035t0012g0008 a0013c0055t0007g0257	33	272	0.1213	840	c.110 others(857): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCC CATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCAT CCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCAT CCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCG TCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCA TCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT CATCCATCCATT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(833): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACC CATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCAT CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCA CCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCC ATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACC ATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATC CATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGC ATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCAT CCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCAT CCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 NA19043.hp1 HG02109.hp2 HG02970.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0064 a0001c0065 a0001c0001 a0001c0064 a0001c0065	a0001c0001t0004 a0001c0064t0019 a0001c0065t0003 a0001c0001t0004 a0001c0064t0019 a0001c0065t0003	a0001c0001t0004g0102 a0001c0064t0019g0010 a0001c0065t0003g0009 a0001c0001t0004g0102 a0001c0064t0019g0010 a0001c0065t0003g0009	3	272	0.0110	840	c.110 others(857): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCACCAT CCATTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAA TTCATCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACC ATCCATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATT AATTCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCAT CCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCG TCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCA TCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT CATCCATCCATT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(833): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGG ACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAA GGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAGGG AGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGGAGAATGGAGGAAG GGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGGAGGGAGGG AGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAAT GGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAG AGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAA GAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGA GTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAA GAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGA CTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAAT GGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0020 a0001c0085t0020	a0001c0085t0020g0060 a0001c0085t0020g0060	1	126	0.0079	840	c.415 others(861): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTCCCCTCCCTCCCTCCCTTCC TCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATT CTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCC TCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTC CCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCC TCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTC CCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCC TCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(833): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGG ACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAG GGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGA ATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAA GAATGGAGGAAGGGAGGGATGGAGGGAAGAATGGAGGGAGGGAGGGAGGG AGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAAT GGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAG AGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAA GAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGA GTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAA GAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGA CTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAAT GGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0035 a0002c0076t0035	a0002c0076t0035g0014 a0002c0076t0035g0014	1	126	0.0079	840	c.415 others(861): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATC CCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCC TCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTC CATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCC TCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTC CCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCC TCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTC CCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCC TCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CTDP1_chr18_79674803_79759503	79687173	T T	TCAGTTCA others(833): Show TCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCATGCACCGCAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCT CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCACAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCG TCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAGT GGTGGGCATGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTG CACCAGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCA GTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCG TCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCT CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0005 a0005c0015t0005	a0005c0015t0005g0366 a0005c0015t0005g0366	1	378	0.0027	840	c.314 others(857): Show c.314+6950_314+6951insGCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCTCCAGTTCACTGGTGGGCATGCACCGCAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCGTCAGTTCACTGGTGGGCCTGCACCACAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCTCCAGTTCAGTGGTGGGCATGCACCGCA GCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCAGAGCAGTTGGCT TCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGC CTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15933585	G G	GAGAGGAA others(833): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAGTGAGTGAGCGAGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAGCAGAGGAGTG AGTGAGCGAGCAGAGGAGTGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0335 a0001c0002t0008g0335	1	386	0.0026	840	c.198 others(855): Show c.198+625_198+626insGCCCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCACTCCTCT GCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCTCCTCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTTCTCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCTCGCTCACTCACTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(833): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTTTAATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATACCT GTGTCCATGTGATCTAATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGC TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTA TCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGT GCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATA GTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTT CTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGA ACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACA TCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAA CTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTCTCTGATG GCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02559.hp2 others(1): Show HG02055.hp1 HG02451.hp2 HG02559.hp2 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0034 a0001c0013t0001g0302 a0001c0013t0001g0303 a0001c0013t0001g0034 a0001c0013t0001g0302 a0001c0013t0001g0303	4	378	0.0106	840	c.627 others(857): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGG GATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATTAG ATCACATGGACACAGGTATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGATGACGAGTT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA TTAAAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAAAAAAGAA ACACCACTTGCA		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15						chr18	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(833): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTTTAATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATACCT GTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGC TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTA TCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGT GCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATA GTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTT CTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGA ACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACA TCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAA CTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTCTCTGATG GCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	378	0.0027	840	c.627 others(857): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGG GATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGTATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGATGACGAGTT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA TTAAAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAAAAAAGAA ACACCACTTGCA		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15						chr18	TogoVar
EHMT1_chr9_137614005_137841127	137716506	G G	GTGTCATG others(833): Show GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTGGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTGGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	170	0.0059	840	c.86- others(853): Show c.86-118_86-117insTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTGGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTGGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
FLT3_chr13_27998274_28105576	27999113	A A	ATATGTAT others(833): Show ATATGTATATTATATACATATAAATATATATTTACATACATATAAATATA TATTTACATACATATAAATATATATATTTACATACATATAAATATATATT TACATACATATAACTATATATATTTACATACATATAACTATATATATTTA CATACATATAACTATATATATTTACATACATATAACTATATATATTTACA TACATATAAATATATATATTTACATACATATAAATATATATATTTACATA CATATAAATATATATATTTACATACATATAAATATATATATTTACATACA TATAAATATATATATTTACATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACTTATATACATATAAATTTATATACTTATATACATATAAATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TGCATATAAATATATATATTTATATGCATATATATATATTTATATGCATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGCATATA AATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TTTATATGTATATAAGTATATAAATTTATATGTATATAAGTATATAAATA TATATTTATATACATATAAATATATATTTATATACATATAAAAATATATT TATATACATATAAAAATATATATTTATATACATATAAAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0022 a0022	a0022c0043 a0022c0043	a0022c0043t0004 a0022c0043t0004	a0022c0043t0004g0224 a0022c0043t0004g0224	1	292	0.0034	840	c.49 others(851): Show c.4938_*4939insATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATTTTTATATGTATATAAATATATATTTTTATAT GTATATAAATATATTTTTATATGTATATAAATATATATTTATATGTATAT AAATATATATTTATATACTTATATACATATAAATTTATATACTTATATAC ATATAAATTTATATACATATAAATATATATATTTATATACATATAAATAT ATATATTTATATGCATATAAATATATATATTTATATACATATAAATATAT ATATTTATATGCATATAAATATATATATATGCATATAAATATATATATTT ATATGCATATAAATATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATTTATATGTATATAAGTATATAAATTTATATGTATATAA GTATATAAATTTATATGTATATAAATATATATTTATATGTATATAATTAT ATATATTTATATGTATATAATTATATATTTATATGTATGTAAATATATAT ATTTATATGTATGTAAATATATATATTTATATGTATGTAAATATATATAT TTATATGTATGTAAATATATATATTTATATGTATGTAAATATATATATTT ATATGTATGTAAATATATATAGTTATATGTATGTAAATATATATAGTTAT ATGTATGTAAATATATATAGTTATATGTATGTAAATATATATAGTTATAT GTATGTAAATATATATTTATATGTATGTAAATATATATATTTATATGTAT GTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAATA TACATA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4160		chr13	TogoVar
GTPBP6_chrX_299759_323796	323687	T T	TGTGTGTG others(833): Show TGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCG TTTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAGCCGTCA ATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGA GGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTG TGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAG AGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTG GGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCC CCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGT TCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCT CCTGGGTTCCGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAG GTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAG AGACGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0101	1	155	0.0065	840	c.-49 others(851): Show c.-4901_-4900insCGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACACACACACGTCCCTGAGC TCACCACCTGGGGACGCCCTCATTCCGTCTCTATGAACAGGGCAGACGGA ACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACACACACACACA CACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATC TCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTAC ACACACACACACACACACACACACACACACACAAACGTCCCTGAGCTCAC CACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCC AGGAGCCCAGGAGACTGACGGCTACACACACACACACACACACACACACA CACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGAC GGCTACACACACACACACACACACACACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCC AGGAGATTGACGGCTAAACACACACACACACACACACACACACACACACA CGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACA GGGCAAACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACAC ACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4892		chrX	TogoVar
HPCAL1_chr2_10297904_10432604	10399208	G G	GCACCACC others(833): Show GCACCACCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCA CCATCACCACCACCACCACCACCACCATCACCGCCACCACCATCACCATC ACCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCATCATCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCAT CACCACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCA TCACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACC GCCACCACCACCATCACCACCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	314	0.0032	840	c.-25 others(857): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCGCCACCACCATCACCATCA CCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCATCATCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACC GCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCAT CACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACCG CCACCACCACCATCACCACCACCACCATCACCATCACCACCACCACCACC ACCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(833): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0011 a0001c0001t0037g0011	1	376	0.0027	840	c.666 others(857): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(833): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	376	0.0027	840	c.666 others(857): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(833): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	376	0.0027	840	c.666 others(857): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406508	C C	CGTCTTCC others(833): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAATGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCAC TGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATG TGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0188 a0001c0001t0188	a0001c0001t0188g0203 a0001c0001t0188g0203	1	276	0.0036	840	c.32 others(849): Show c.325_*326insTAGATGTCACAGAGGTCCACTCAGTGACACACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCC ACTCAGTGACACACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAG AGGTCCACTCAGTGACACACACACATTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAG GAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACACATTGAAGG CCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACACAC TGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTG ACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCAC TCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAG GTCCACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGACTAGATGTC ACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGA GATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGA AGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				325		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(833): Show TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTC TCCCCCTCCCCTCCCCCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCC CCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATCCCCT CCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCATCCGCCTC CCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCCTCCCCTCCCCCCTCCC CCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCT TCCCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCT CCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0014 a0001c0001t0038g0014	1	158	0.0063	840	c.11 others(861): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTGTCTCCCCCTCCCCCC TCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCC CCTCCCCCCATCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCCATCCGCCTCCCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCC CCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCC TCCCCTCCCCCCTCCCCCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTC TCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCC TCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC TCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCCCTCTCTCTC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGGACCCC others(833): Show CGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTT GCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAG GTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCA GAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTG AACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0025 a0025	a0025c0088 a0025c0088	a0025c0088t0012 a0025c0088t0012	a0025c0088t0012g0116 a0025c0088t0012g0116	1	374	0.0027	840	c.735 others(857): Show c.735+1139_735+1140insGACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCA GAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCG GACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCAC CCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCA CGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGC CCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGC TGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTG GCCCCAGAGCTG		KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr14	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(833): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATGT GCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTG GGTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATC TGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTG CATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGT GTATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTG TGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTG CATGTATCTGTGTGTGCACATGTGTGTATCTGTGTTTGCATGTGTGTATC TGTGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp2 HG01433.hp2 others(3): Show HG00280.hp2 HG01192.hp2 HG01433.hp2 HG01516.hp2 HG02040.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0002t0036 a0001c0003t0001	a0001c0001t0003g0058 a0001c0001t0005g0010 a0001c0001t0010g0046 others(3): Show a0001c0001t0003g0058 a0001c0001t0005g0010 a0001c0001t0010g0046 a0001c0002t0002g0085 a0001c0002t0036g0079 a0001c0003t0001g0048	6	114	0.0526	840	c.55+ others(859): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGTGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACATGCACACATAGATACATGCACATATGCAGATACACATATGCACACA CAGATACACACATGCACACACAGATATATGCACACACAGATACACACATC ACATGCACATGCACACAGATACACACATGTGCACATGGATACACACATAT GCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATGCA CACACACAGCTACATGCACATACACAGATACACACATTCACACACAGACA CATACATGCACACAGTGATACACACATGCACACATACAGATATACACATG CACATGCACACAGATACACACATGCACACAGATACACACATGCACACACA GAGATACACACATGCACACACACATACACACATGCACATGCCTACAGGTA CACACATGCACACA		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGT others(833): Show CTGTGTGTATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTCTGTGTGCATGTGTATATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGCATATATCTGTGTGTGC ATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTATCT ATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATGT GCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTG GGTGTGTGCATGTGTGTGCATGTGTGTGCATGTGTGTGCATATGTGTATC TGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTG CATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGT GTATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTG TGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTG CATGTATCTGTGTGTGCGCATGTGTGTATCTGTGTTTGCATGTGTGTATC TGTGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 HG03579.hp1 HG02723.hp2 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0002t0008 a0001c0001t0004 a0001c0002t0004 a0001c0002t0008	a0001c0001t0004g0073 a0001c0002t0004g0076 a0001c0002t0008g0103 a0001c0001t0004g0073 a0001c0002t0004g0076 a0001c0002t0008g0103	3	114	0.0263	840	c.55+ others(859): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGCGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACATGCACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACACATGCACACATAGATACATGCACATATGCAGATACACATATGCACA CACAGATACACACATGCACACACAGATATATGCACACAGATACACACATC ACATGCACATGCACACAGATACACACATGTGCACATGGATACACACATAT GCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATGCA CACACACAGCTACATGCACATACACAGATACACACATTCACACACAGACA CATACATGCACACAGTGATACACACATGCACACATACAGATATACACATG CACATGCACACAGATACACACATGCACACAGATATACACATGCACACAGA GAGATACACACATGCACACACACATACACACATGCACATGCCTACAGGTA CACACATACACACA		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(833): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGG GGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTG GGGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGATGGTGAG GGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGATGGTGGGGGTGG GGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0101 a0004c0004t0001g0101	1	186	0.0054	840	c.956 others(857): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCCCCACCATCACCCC CACCATCATCACCCTCACCATCATCACCCCCACCATCACCGTCATCACCC CCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCACC ATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCAT CACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCACCGTCATTACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCCCCACCATCATCACCCCC ACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACA TCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCCAC CCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCACCG TCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACC CCCACCCCCACC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LARS1_chr5_146108034_146187650	146174557	T T	TATATATA others(833): Show TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATCCATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	284	0.0035	840	c.126 others(857): Show c.126-1784_126-1783insGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATGGATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATAT		LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31						chr5	TogoVar
LMF1_chr16_848634_975984	859506	C C	CAGTGGTG others(833): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGATGTCACGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGAGACGGGTGTGCAGTG ATGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGATGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCACGGGACGGGTGTGCAGTGGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGACTGGTGTCTCGGGACGGTTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	294	0.0034	840	c.153 others(859): Show c.1530-4801_1530-4800insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACAACCGTCCCGAGACACCAGTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACCACTGCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGAC ATCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACATCAGTGCACA CCCGTCCCGAGACATCACTGCACACCCGTCTCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGTGACATCACTGCACACCCGTCCCGTGACACCA CTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GGAGAGGG others(833): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAG AGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGAG AGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAGTGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	840	c.-41 others(851): Show c.-4154_-4153insGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGG GAGAGGGAGAGGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGTGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGACAGACAGAGA CAGACA		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3968		chr11	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(833): Show ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTAT ATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATAT ATGTATGTAAAACTATATACAGTTATATATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0005 a0006c0009t0001g0005	1	422	0.0024	840	c.-29 others(851): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAA ACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTA AAACTATAGTTATATATGTATGTAAAACTATATACAGTTATATATGTATG TAAAAC		LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding					2923		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(833): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACTCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACCCTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACC TCCACACCCACACTCACACTCATGCTTACATCTACCTCCACACCCACACT CACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACA CTCACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0268 a0001c0002t0004g0268	1	290	0.0035	840	c.129 others(859): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTTACACTCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACCCTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACGCTTACATCTACCTCCACACCCACACTCACACTCATGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACTCATGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAGEC1_chrX_141898894_141914374	141905995	A A	ACTCCAGA others(833): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAG TCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAG TCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC CCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTA TTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCC TCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGT GAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp2 HG02109.hp2	a0107 a0107	a0107c0192 a0107c0192	a0107c0192t0001 a0107c0192t0001	a0107c0192t0001g0002 a0107c0192t0001g0002	1	359	0.0028	840	c.661 others(847): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCC ACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCGCTCCTTCT CCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTC CTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTC AGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGC CGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAG AA	p.Arg others(853): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThr PheGluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSe rSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGlnS erThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerArg SerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgTh rGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProValS erProSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGlu ArgThrGlnSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIlePr oValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerP roGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(833): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCTCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCACACAACGCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp2 HG03486.hp2 others(1): Show HG01167.hp2 HG02647.hp2 HG03486.hp2 NA18522.hp1	a0009 a0013 a0014 others(1): Show a0009 a0013 a0014 a0056	a0009c0009 a0013c0020 a0014c0017 others(1): Show a0009c0009 a0013c0020 a0014c0017 a0056c0094	a0009c0009t0036 a0013c0020t0010 a0014c0017t0015 others(1): Show a0009c0009t0036 a0013c0020t0010 a0014c0017t0015 a0056c0094t0017	a0009c0009t0036g0246 a0013c0020t0010g0230 a0014c0017t0015g0247 others(1): Show a0009c0009t0036g0246 a0013c0020t0010g0230 a0014c0017t0015g0247 a0056c0094t0017g0232	4	292	0.0137	840	c.377 others(857): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTGTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGAGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(833): Show AAGGGGGGAAGGGGGGAAGGAGGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGGGGAAGGAGGGGGGAAGGAGGAAGGCGGAAAGGGGAGGGGAGAAGG GGAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGC GGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTG GGGGGAAGGGGGAAGGGGAAAGGTGGGGGGAAGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAGGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGGAGGGTGAGG GGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGGGAGGGGGAGGGGAGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAG GGGGGGAGGGGGGAGGGTGGAGGGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGA AGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAG GGGAGGGGGGGAGTGGAGGGGGGGAGGGGGAGGGGGAGGGGATGGGAGTG GAGGGGGAGGGGGAGGGAGGAGGGATGGGGAGGGGGGAGGGGGAGGGAGG AGAGGGGAGGGGAGGGGGAGGGAGGAGGAGGGGGAGGGGGAGGGAAGGGA GGAGGGGGAGGGGGAGGGAGGGAGGAGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	272	0.0037	840	c.250 others(855): Show c.250+581_250+582insCCACCCTCCCTCCCCTCCTCCCTCCCTCCC CCTCCCCCTCCTCCCTTCCCTCCCCCTCCCCCTCCTCCTCCCTCCCCCTC CCCTCCCCTCTCCTCCCTCCCCCTCCCCCCTCCCCATCCCTCCTCCCTCC CCCTCCCCCTCCACTCCCATCCCCTCCCCCTCCCCCTCCCCCCCTCCACT CCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCC TCCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCTCCACCCTCC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCTCCCCTCC CCCTCCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCTCCCCCTCCCCTCACCCTCCCCCTCCCCTCCCCCCTCCATCCTCCCCT CACCCCCTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCC TTCCCCCCACCCCTTTCCCCCTTCCCCCCTTCCCCCCACCTTTCCCCTTC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCC CCTGCCCCTCCCCTTCTCCCCTCCCCTTTCCGCCTTCCTCCTTCCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTCCTTCCCCC CTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(833): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCC TCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCT CCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0139 a0011c0023t0001g0139	1	140	0.0071	840	c.114 others(859): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTC CCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTC CCCCCTCCTCCCCT		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233382	A A	ACCCACCA others(833): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCAACC TTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCCTTCTCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATC CACCTTCTGTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGTA CCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACC TTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCT CTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCA TCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCCACTATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	140	0.0071	840	c.133 others(859): Show c.1339-5365_1339-5364insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCTGTCCCCCGCAGCTCCTGCACCCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGTACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACTATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCC TGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(833): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCCG CAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGC TCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCAC CATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCT CCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 NA18522.hp1 HG02280.hp1 HG02572.hp1 NA18522.hp1	a0002 a0007 a0002 a0007	a0002c0004 a0002c0013 a0007c0012 a0002c0004 a0002c0013 a0007c0012	a0002c0004t0001 a0002c0013t0001 a0007c0012t0001 a0002c0004t0001 a0002c0013t0001 a0007c0012t0001	a0002c0004t0001g0023 a0002c0013t0001g0022 a0007c0012t0001g0024 a0002c0004t0001g0023 a0002c0013t0001g0022 a0007c0012t0001g0024	3	140	0.0214	840	c.133 others(859): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCC ACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTG CACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC CACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTT CTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAG CTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCAC CATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCC TGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(833): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0002 a0012c0020t0002	a0012c0020t0002g0011 a0012c0020t0002g0012 a0012c0020t0002g0011 a0012c0020t0002g0012	2	249	0.0080	840	c.129 others(861): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGACCGTGGAAGGTAT GGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(833): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0029 a0029	a0029c0138 a0029c0138	a0029c0138t0002 a0029c0138t0002	a0029c0138t0002g0014 a0029c0138t0002g0014	1	249	0.0040	840	c.129 others(861): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGACCGTGGAAGGTAT GGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(833): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0013 a0006c0019t0002g0013	1	249	0.0040	840	c.129 others(861): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGACCGTGGAAGGTAT GGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(833): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0175 a0002c0002t0003g0175	1	322	0.0031	840	c.46 others(851): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2946		chr18	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(833): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGA GGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGG GGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGA GGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGG AGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGG GGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAG GGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGAGGGGTGCGGGAGGG GAGGGGTGCGGGAGGGGAGGGTAAAGGAAGGGAGGGGAGGGTGGGGGAAG GGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0172 a0001c0005t0001g0173	2	208	0.0096	840	c.279 others(855): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCTTCCCCCACCCTCCCCTCCCTTCCTTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCCCCTCC CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCC TCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCT CCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCCTT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACC CCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTC CCCTCTCTTC		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(833): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACACATATAACATATATGTATTACATATATGTATTACACATATAACATA TATGTATTACATATATGTATTACACATATAACATATATGTATTACATATA TGTATTACACATATAACATATATGTATTACATATATGTATTACACATATA ACATATATGTATTACATATATGTATTACACATATAACATATATGTATTAC ATATATGTAATACACATATAACATATATGTATTACATATATGTAATACAC ATATAACATATATGTATTACATATATGTAATACACATATAACATATATGT ATTACATATATGTAATACACATATAACATATATGTATTACATATATGTAA TACACATATAACATATATGTATTACATATATGTAATACACATATAACATA TATGTATTACATATATGTAATACACATATAACATATATGTATTACATATA TGTAATACACATATAACATACATGTATTACATATATGTAATACACATATA ACATATATGTATTACATATATGTAATACATATATAACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	840	c.70 others(851): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACACATATAACATATATGTATTACATATATGTAT TACACATATAACATATATGTATTACATATATGTATTACACATATAACATA TATGTATTACATATATGTATTACACATATAACATATATGTATTACATATA TGTATTACACATATAACATATATGTATTACATATATGTATTACACATATA ACATATATGTATTACATATATGTAATACACATATAACATATATGTATTAC ATATATGTAATACACATATAACATATATGTATTACATATATGTAATACAC ATATAACATATATGTATTACATATATGTAATACACATATAACATATATGT ATTACATATATGTAATACACATATAACATATATGTATTACATATATGTAA TACACATATAACATATATGTATTACATATATGTAATACACATATAACATA TATGTATTACATATATGTAATACACATATAACATACATGTATTACATATA TGTAATACACATATAACATATATGTATTACATATATGTAATACATATATA ACATAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(833): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	840	c.-26 others(851): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(833): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0057 a0001c0020t0001g0057	1	262	0.0038	840	c.129 others(857): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar

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Search Results (Total: 7053 hits)