Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIDO1_chr20_62872743_62931505	62875254	C C	CCACCCCC others(1205): Show CCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGC ACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACCCCCACCCCCACC CCCACCCCCACCCCCACCCGCACCCTCACCCCCACCCCCACCCTCACCCC CACCCCCACCCGCACCCGCACCCGCACCCCCACCCCCACCCTCACCCGCA CCCCCACCCCCACCCTCACCCTCACCCGCACCCGCACCCGCACCCGCACC CGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCTCACCCCACCCCC ACCCTCACCCGCACCCCCACCCCCACCCTCACCCTCACCCGCACCCGCAC CCGCACCCGCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCC TCACCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCTCACCCCCA CCCGCACCCGCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCTCACCCCC ACCCCCACCCTCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCCAC CCCCACCCTCACCCGCACCCCCACCCCCACCCTCACCCTCACCCGCACCC CCACCCCCACCCCCACCCTCACCCCCACCCCCACCCGCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCACCCCCACCCCCACCCCCACC CCCACCCCCACCCGCACCCTCACCCCCACCCCCACCCTCACCCCCACCCC CACCCGCACCCGCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCA CCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCCCACCCTCACC CCCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCCACCCCCACCCG CACCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCTCAC CCCCACCCCCACCCTCACCCCCACCCCCACCCGCACCCGCACCCGCACCC CCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0247 a0003c0003t0001g0247	1	320	0.0031	1212	c.39 others(1223): Show c.3978_*3979insAGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGG TGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGT GGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGAGGGTGG GGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGAGGGTGGGG GTGGGGGTGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGT GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGG GGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGAGGGTGAGGG TGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGCGGGTG CGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGAGGGTGCGGGTGGG GGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGCGGGTGCGGGTGCGGGTGGGGGTGAGGGTGGGGGTGG GGGTGGGGGTGAGGGTGGGGGTGGGGTGAGGGTGGGGGTGCGGGTGAGGG TGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGCGGGTGCGGGTGAGGGTG AGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGTGAGGGTGGGG GTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGCGGGT GCGGGTGAGGGTGAGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGG GGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGG GTGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG GGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGG GGTGGGGGTGGGGGTGAGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2488		chr20	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1205): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAG GAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGG AGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGG AGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGG AGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAGG GAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAG GAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGG GAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0010 a0010	a0010c0213 a0010c0213	a0010c0213t0001 a0010c0213t0001	a0010c0213t0001g0138 a0010c0213t0001g0138	1	252	0.0040	1212	c.118 others(1231): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCTTCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCT CCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCCTC CCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCC CCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCT CCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCT CCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCC CCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCTCCTCCTCCTCCTCCT CCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0140 a0009c0012t0001g0140	1	316	0.0032	1212	c.49 others(1223): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01361.hp2 HG01975.hp2 others(10): Show HG00733.hp2 HG01361.hp2 HG01975.hp2 HG02040.hp2 HG02148.hp1 HG02717.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03710.hp2 HG03834.hp2 NA18957.hp1 NA20129.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0013 a0033	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0029 a0001c0044 a0002c0003 a0002c0015 a0002c0045 a0008c0036 a0013c0022 a0033c0064	a0001c0001t0001 a0001c0002t0004 a0001c0005t0001 others(10): Show a0001c0001t0001 a0001c0002t0004 a0001c0005t0001 a0001c0006t0002 a0001c0006t0004 a0001c0029t0004 a0001c0044t0004 a0002c0003t0003 a0002c0015t0001 a0002c0045t0001 a0008c0036t0002 a0013c0022t0003 a0033c0064t0001	a0001c0001t0001g0247 a0001c0002t0004g0208 a0001c0005t0001g0103 others(10): Show a0001c0001t0001g0247 a0001c0002t0004g0208 a0001c0005t0001g0103 a0001c0006t0002g0315 a0001c0006t0004g0207 a0001c0029t0004g0197 a0001c0044t0004g0231 a0002c0003t0003g0307 a0002c0015t0001g0156 a0002c0045t0001g0225 a0008c0036t0002g0074 a0013c0022t0003g0276 a0033c0064t0001g0127	13	316	0.0411	1212	c.49 others(1223): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02698.hp1 HG04115.hp1 HG00438.hp2 HG02698.hp1 HG04115.hp1	a0001 a0024 a0043 a0001 a0024 a0043	a0001c0005 a0024c0136 a0043c0088 a0001c0005 a0024c0136 a0043c0088	a0001c0005t0001 a0024c0136t0001 a0043c0088t0002 a0001c0005t0001 a0024c0136t0001 a0043c0088t0002	a0001c0005t0001g0093 a0024c0136t0001g0234 a0043c0088t0002g0034 a0001c0005t0001g0093 a0024c0136t0001g0234 a0043c0088t0002g0034	3	316	0.0095	1212	c.49 others(1223): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0021 a0021	a0021c0061 a0021c0061	a0021c0061t0010 a0021c0061t0010	a0021c0061t0010g0260 a0021c0061t0010g0260	1	316	0.0032	1212	c.49 others(1223): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCGTCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0173 a0001c0009t0001g0173	1	316	0.0032	1212	c.49 others(1223): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCGTCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGA CTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTG GCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCT TTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTG GCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCG CCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCC CTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGG GCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGA GTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGG CCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATT TAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0045 a0045	a0045c0078 a0045c0078	a0045c0078t0006 a0045c0078t0006	a0045c0078t0006g0191 a0045c0078t0006g0191	1	316	0.0032	1212	c.49 others(1223): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCC CCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCA GGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCT TCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCT TGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTAT CGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCC GACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTC TGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCT GTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCG CCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGG GAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGT CGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAG TTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTT CTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGG CCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGC CTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGG CCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCT GTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAA TGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGG GCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAA ACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAG GTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTT TTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCA GCTCCCCCTTCCCGTCCACATGCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0245 a0001c0006t0001g0245	1	316	0.0032	1212	c.49 others(1223): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATC GCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCG ACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCT GGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTG TCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1205): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02683.hp1 NA18955.hp1 HG02523.hp2 HG02683.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	3	248	0.0121	1212	c.273 others(1231): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EVC2_chr4_5557439_5713559	5706425	G G	GATAGATA others(1205): Show GATAGATAGATACATAGATAGAGAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TACATACATACATACATACATACATACATACATAGATAGATACATAGATA GATAGATACATACATAGATAGATAGATAGATAGATACATAGATAGATAGA TACATACATACATAGATAGATAGATACATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATAGA TAGATACATAGATAGATACATAGATAGACAGATAGATAGATACATAGATA GATAGATAGATACATAGAGATACATAGATAGATAGATAGATACATAGAGA TACATAGATAGATAGATACATACATACATACATAGATACATAGATAGATA GATACATAGATAGATAGATACATACATACATACATACATACATAGATAGA TAGATAGATACATAGATAGATACATACATAGATAGATACATACATACATA AATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATA GATAGACAGATACATAGATAGATACATAGATACATAGATAGACAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGATAGATACATAGATAGATAGATACATAGATACATACATAGATAGATA GATAGATAGATACATACATACATACATACATACATAGATACATAGATAGA TAGATACATAGATAGATACATAGATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATACATACATAGATAGATAGATAGATACATAGATA GATAGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGACACATAGATAGATACATAGATAGATAGATAGATACATAGATACATA GATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0164 a0002c0007t0002g0164	1	292	0.0034	1212	c.228 others(1229): Show c.228+1860_228+1861insGTATCTATCTATCTATGTATCTATGTAT CTATCTATCTATCTATGTATCTATCTATGTGTCTATCTATCTATCTATGT ATCTATCTATCTATCTATGTATCTATGTATCTATCTATCTATGTATCTAT CTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTATGTATCT ATCTATGTATCTATCTATCTATCTATGTATGTATGTATGTATGTATGTAT CTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATGTATCT ATGTATGTATGTATGTATGTATGTATCTATCTATCTATCTATCTATGTAT GTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATCTATGT ATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTATGTAT CTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTGTCTATCT ATGTATCTATGTATCTATCTATGTATCTGTCTATCTATGTATCTATCTAT GTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCTATCT ATCTATGTATCTATCTATCTATGTATCTATCTATTTATGTATGTATGTAT CTATCTATGTATGTATCTATCTATGTATCTATCTATCTATCTATGTATGT ATGTATGTATGTATGTATCTATCTATCTATGTATCTATCTATCTATGTAT CTATGTATGTATGTATGTATCTATCTATCTATGTATCTCTATGTATCTAT CTATCTATCTATGTATCTCTATGTATCTATCTATCTATCTATGTATCTAT CTATCTGTCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCT ATGTATCTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTAT GTATCTATGTATCTATCTATCTATGTATGTATGTATCTATCTATCTATGT ATCTATCTATCTATCTATCTATGTATGTATCTATCTATCTATGTATCTAT CTATGTATGTATGTATGTATGTATGTATGTATGTATCTATCTATCTATGT ATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATCTATCTATCTATCTATGTATCT ATCTATCTATCTCTCTATCTATGTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706425	G G	GATAGATA others(1205): Show GATAGATAGATACATAGATAGAGAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TACATACATACATACATACATACATACATACATAGATAGATACATAGATA GATAGATACATACATAGATAGATAGATAGATAGATACATAGATAGATAGA TACATACATACATAGATAGATAGATACATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATAGA TAGATACATAGATAGATACATAGATAGACAGATAGATAGATACATAGATA GATAGATAGATACATAGAGATACATAGATAGATAGATAGATACATAGAGA TACATAGATAGATAGATACATACATACATACATAGATACATAGATAGATA GATACATAGATAGATAGATACATACATACATACATACATACATAGATAGA TAGATAGATACATAGATAGATACATACATAGATAGATACATACATACATA AATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATA GATAGACAGATACATAGATAGATACATAGATACATAGATAGACAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGATAGATACATAGATAGATAGATACATAGATACATACATAGATAGATA GATAGATAGATACATACATACATACATACATACATAGATACATAGATAGA TAGATACATAGATAGATACATAGATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATACATACATAGATAGATAGATAGATACATAGATA GATAGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGACACATAGATAGATACATAGATAGATAGATAGATACATAGATACATA GATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0196 a0004c0006t0005g0196	1	369	0.0027	1212	c.-49 others(1223): Show c.-4956_-4955insATAGATAGATACATAGATAGAGAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGAT ACATAGATAGATAGATACATACATACATACATACATACATACATACATAG ATAGATACATAGATAGATAGATACATACATAGATAGATAGATAGATAGAT ACATAGATAGATAGATACATACATACATAGATAGATAGATACATAGATAC ATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATACAT AGATAGATAGATAGATAGATACATAGATAGATACATAGATAGACAGATAG ATAGATACATAGATAGATAGATAGATACATAGAGATACATAGATAGATAG ATAGATACATAGAGATACATAGATAGATAGATACATACATACATACATAG ATACATAGATAGATAGATACATAGATAGATAGATACATACATACATACAT ACATACATAGATAGATAGATAGATACATAGATAGATACATACATAGATAG ATACATACATACATAAATAGATAGATACATAGATAGATAGATACATAGAT AGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAC ATAGATAGATACATAGATAGACAGATACATAGATAGATACATAGATACAT AGATAGACAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGAT ACATAGATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAC ATACATAGATAGATAGATAGATAGATACATACATACATACATACATACAT AGATACATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAG ATACATACATACATACATACATACATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATAGATAGATACATAGATACATACATAGATAGATAG ATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGATAGAT ACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAGATAG ATACATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4775		chr4	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGA others(1205): Show GGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATG GAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGG GTGAGGGGAGGCTAGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGA GGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTG AGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGC TGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTG GGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGG CTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGG CAGTGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGT GGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGG CTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGT GGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGA GGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGG GTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGG AGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTG GTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCG GTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTG GAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGG GTAGGGGAGGCTGGCGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGG GAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGC AGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGT GTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGA GGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGG TGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAG GCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18986.hp2 HG00609.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0224 a0001c0001t0004g0175 a0001c0001t0004g0224	2	418	0.0048	1212	c.119 others(1231): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCAGCCTCCACC CACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCG CTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCA GCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCTGCCAGCCTCCCCT CACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGC CTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGCCTCCATC CACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCT GCCACCAGCCTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCA CCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGC CTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACC CACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACCG CTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGC CACCAGCCTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACAC TGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCAC CAGCCTCCCCTCACCCCAGCCTCCACCCACACCACTGCCACCAGCCTCCC CCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCC AGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCC ACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCACC CCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCC ATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACTG CTGCCACCAGCCTCCTCTCACCCTAGCCTCCCCTCACCCCAGCCTCCACC CACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCT GCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FGD1_chrX_54440454_54501234	54445834	A A	ACACTCCT others(1205): Show ACACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCGCAAAGTGCTCC GATTACAGGCGTGAGCCACCATGCCCGGCCTTGGGCATGTTATTTCCAGG TTCAGATATTAGGTTTTCAGTCTGAGGGAAGCTGTTTCAGAACATGGGCT CAGTCTACACTTTCAGCAGGGGGGATGAGTTTGTGGCTTTAGTATGTGAT GGGTCCTTCTGGGAACTCACCCTGGGCCCATTTGCAGGATATCAGTCCCA GTCCCCATACTCCTTCAAGGAGCTAAGTTTGGGGACTCAGTCCCGTGGCT CTACCTAGAGGCTCATTATGGGCATTATGGGGACATGACTTTAAGGTTAA GGGTTTACATGTTGATGGTTCACTCTTTTTTTTTTTTGAGACAGGGATCT GGCTCTGTCACCCATGCTGGAGTGCACTGCTGCCATCTCTGCTCATTGCA ACCCCCGCCTCCTGGGCCCAAGCTGATCCTCCAACCTCAGCCTCCAGGGT AGCTTGGAGACCGCAGGCATGTCCCACCAAGTCCTGCTAATTTTTGTATT TTTTTCAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCC TGGACTCAAGGAATCTGCCCAGATGGTTCACTCTTGAGACACTAATTCTA GTGTTTCAGTTGGGAGAGGATTTGATATGGGAGCCTGATATTTTCTCTGA CATATGACTAAGCCTCTCACTGAGTGAGTGCCAGTTTCAGAGCTCAGTCT GCTCAGGTATTGGAAGCCCAGTCTGGAGATTTTAGCCTGAGGTCAAGCCT AGGAGATACGGATGTGATGGCCTCACCCAGGGATGTCTGTCTGGTGGGCT CTGTCTTGGGATGCCAGGCTTGGTCCTAATCTGAAATTTTCTTTTCTTTC TTTTTTTTTTTTGAGACAGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGT GGCGTGATCTCGGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCACGTGCCACCACG CCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGC CAGGCTGGTCTTGAACTCCTGACCCTGTGATTTACCCACTTTGGCCTCCC AAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTATACCTGGT ACTGTTCTAAGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0075 a0001c0001t0018g0075	1	264	0.0038	1212	c.27 others(1221): Show c.274_*275insAGCTTAGAACAGTACCAGGTATAGGCCAGGCATGGT GGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAAATCA CAGGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCT CTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTT CCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTG GAGGTTGCAGTAAGCCGAGATCACGCCACTGCACTCCAGCTTGGGCAACA GAGTGAGACTGTCTCAAAAAAAAAAAAGAAAGAAAAGAAAATTTCAGATT AGGACCAAGCCTGGCATCCCAAGACAGAGCCCACCAGACAGACATCCCTG GGTGAGGCCATCACATCCGTATCTCCTAGGCTTGACCTCAGGCTAAAATC TCCAGACTGGGCTTCCAATACCTGAGCAGACTGAGCTCTGAAACTGGCAC TCACTCAGTGAGAGGCTTAGTCATATGTCAGAGAAAATATCAGGCTCCCA TATCAAATCCTCTCCCAACTGAAACACTAGAATTAGTGTCTCAAGAGTGA ACCATCTGGGCAGATTCCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCA ACATGGCAAAACCCTGTCTCTGAAAAAAATACAAAAATTAGCAGGACTTG GTGGGACATGCCTGCGGTCTCCAAGCTACCCTGGAGGCTGAGGTTGGAGG ATCAGCTTGGGCCCAGGAGGCGGGGGTTGCAATGAGCAGAGATGGCAGCA GTGCACTCCAGCATGGGTGACAGAGCCAGATCCCTGTCTCAAAAAAAAAA AAGAGTGAACCATCAACATGTAAACCCTTAACCTTAAAGTCATGTCCCCA TAATGCCCATAATGAGCCTCTAGGTAGAGCCACGGGACTGAGTCCCCAAA CTTAGCTCCTTGAAGGAGTATGGGGACTGGGACTGATATCCTGCAAATGG GCCCAGGGTGAGTTCCCAGAAGGACCCATCACATACTAAAGCCACAAACT CATCCCCCCTGCTGAAAGTGTAGACTGAGCCCATGTTCTGAAACAGCTTC CCTCAGACTGAAAACCTAATATCTGAACCTGGAAATAACATGCCCAAGGC CGGGCATGGTGGCTCACGCCTGTAATCGGAGCACTTTGCGAGGCTGAGGC GGGCAGATCACTTGAGGTCAGGAGTG	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	18/18	274		chrX	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CCGGGGGG others(1205): Show CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGTG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAATGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGTGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAATGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAATGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0252 a0001c0001t0008g0252	1	308	0.0033	1212	c.157 others(1227): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGTGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCAGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCAGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAG TGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGTGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAT GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAATGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGG GGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLIS2_chr16_4311067_4344595	4344366	C C	CTGTGAGA others(1205): Show CTGTGAGAGGAGGGGTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGTTG AGGAGGGGTTCTCGTGAGAGGAGGGACGGTGTTGAGAGGAGGGGTCTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGAGTGAGGTTCTGTGAGAGGGGGTA CTGTGTGAGGTCGGAGGGGGTTCTGTGAGAGGAGGGAGGTGTCTGTGAGA GGAGGGGGTTCCGTGAGAGGGAGGGGTGACGGTGGGTTGTGAGTGAGGAG GGGGTTCTGTGAGAGGAGGGGGTCTGTGAGAGGAGGGGTTCCTGTGAGAG GAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGTGGACTG TGTGAGAGGGGTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGCTGTG AAGGAGGGGTTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGGTT CTGTGAGAGGAGGGACTGTGTGAGAGGAGGGGGTCTGTGAGAGGAGGGGG TTCTGTGAGAGGAGTGGACTGTGTGAGAGGAGGGGGTCCGTGAGAGGAGG GGGTCTGTGAGAGGAGGGGTTCTGTGAGAGGAGGGGTTCTGTGAGAGGAG GGTTTGTGGAGAGGGATGTGAGGAGGGGGACTGTGTGAGAGGAGGGGTTC TGTGAGAGGTGTCTGTGAGTAGGAGGATCTGTGAGAGGAGGGGATTGTGA GAGAGGGTTCTGTGAGAGGAGGGACTGTGAGGGGTTCGTGAGAGGAGGGG ATTCGTGAGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGG AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAG GGGATTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTGCGT GAGAGGAGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	395	0.0025	1212	c.68 others(1223): Show c.6842_*6843insTGTGAGAGGAGGGGTCTGTGAGAGGAGGGGGTTC TGTGAGGAGGGGTTGAGGAGGGGTTCTCGTGAGAGGAGGGACGGTGTTGA GAGGAGGGGTCTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAGTGAGGTT CTGTGAGAGGGGGTACTGTGTGAGGTCGGAGGGGGTTCTGTGAGAGGAGG GAGGTGTCTGTGAGAGGAGGGGGTTCCGTGAGAGGGAGGGGTGACGGTGG GTTGTGAGTGAGGAGGGGGTTCTGTGAGAGGAGGGGGTCTGTGAGAGGAG GGGTTCCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGGTTCTGTGAGAGGAGGGGTTCTGTGAGAGGAGGGGGTTCCGTG AGAGGAGGTGGACTGTGTGAGAGGGGTCCGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGCTGTGAAGGAGGGGTTGTGAGAGGAGGGGACTGTGTGAGA GGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGT GAGAGGAGGGGGGTTCTGTGAGAGGAGGGACTGTGTGAGAGGAGGGGGTC TGTGAGAGGAGGGGGTTCTGTGAGAGGAGTGGACTGTGTGAGAGGAGGGG GTCCGTGAGAGGAGGGGGTCTGTGAGAGGAGGGGTTCTGTGAGAGGAGGG GTTCTGTGAGAGGAGGGTTTGTGGAGAGGGATGTGAGGAGGGGGACTGTG TGAGAGGAGGGGTTCTGTGAGAGGTGTCTGTGAGTAGGAGGATCTGTGAG AGGAGGGGATTGTGAGAGAGGGTTCTGTGAGAGGAGGGACTGTGAGGGGT TCGTGAGAGGAGGGGATTCGTGAGAGAGGAGGGGACTGTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG ACTGTGTGAGAGGAGGGGATTCCGTGAGAGGAGGGGATTGTGTGAGAGGA GGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAG AGGAGGGGGTTGCGTGAGAGGAGGGGAT	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4772		chr16	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(1205): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCTTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCACAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0237 a0013c0022t0001g0237	1	282	0.0036	1212	c.258 others(1229): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTC CACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCTTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCACAGAACCGGACCCCTCCC CTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCT CCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCG GAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCCTGCTGCTTCCCCCCCTCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0146 a0006c0006t0002g0146	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCCTGCTGC TTCCCCCCCTCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0047 a0047	a0047c0063 a0047c0063	a0047c0063t0002 a0047c0063t0002	a0047c0063t0002g0160 a0047c0063t0002g0160	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp1 HG01516.hp2 others(16): Show HG00733.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03710.hp1 HG03834.hp1 NA18957.hp1 NA18975.hp1 NA19007.hp2 NA19081.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0014 a0017 a0019 a0036	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0016 a0001c0065 a0003c0011 a0005c0014 a0014c0022 a0017c0073 a0019c0044 a0036c0082	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 a0001c0015t0005 a0001c0016t0001 a0001c0065t0002 a0003c0011t0003 a0005c0014t0001 a0014c0022t0001 a0017c0073t0003 a0019c0044t0002 a0036c0082t0002	a0001c0001t0001g0167 a0001c0001t0002g0022 a0001c0001t0002g0169 others(15): Show a0001c0001t0001g0167 a0001c0001t0002g0022 a0001c0001t0002g0169 a0001c0001t0002g0179 a0001c0002t0001g0106 a0001c0002t0001g0291 a0001c0002t0001g0308 a0001c0004t0003g0028 a0001c0004t0003g0202 a0001c0015t0005g0045 a0001c0016t0001g0203 a0001c0065t0002g0254 a0003c0011t0003g0028 a0005c0014t0001g0104 a0014c0022t0001g0306 a0017c0073t0003g0204 a0019c0044t0002g0022 a0036c0082t0002g0253	19	388	0.0490	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG04115.hp1 HG00438.hp2 HG01516.hp1 HG04115.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0018 a0001c0001 a0009c0018	a0001c0001t0003 a0001c0001t0004 a0009c0018t0002 a0001c0001t0003 a0001c0001t0004 a0009c0018t0002	a0001c0001t0003g0227 a0001c0001t0004g0231 a0009c0018t0002g0232 a0001c0001t0003g0227 a0001c0001t0004g0231 a0009c0018t0002g0232	3	388	0.0077	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0002 a0023c0027t0002	a0023c0027t0002g0153 a0023c0027t0002g0153	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0006 a0013c0013t0006	a0013c0013t0006g0266 a0013c0013t0006g0266	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCGTCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0299 a0005c0014t0001g0299	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCGTCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGA CTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTG GCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCT TTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTG GCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCG CCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCC CTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGG GCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGA GTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGG CCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATT TAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0052 a0005c0052	a0005c0052t0006 a0005c0052t0006	a0005c0052t0006g0267 a0005c0052t0006g0267	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACA CCCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTC CACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCC CCGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTG GGCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTT CTCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGG CTCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCC TGGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAG TTCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAG GGGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGC TCTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0031 a0031	a0031c0088 a0031c0088	a0031c0088t0001 a0031c0088t0001	a0031c0088t0001g0116 a0031c0088t0001g0116	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1205): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0307 a0014c0022t0001g0307	1	388	0.0026	1212	c.-38 others(1231): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KIAA0930_chr22_45187244_45245894	45228779	C C	CTACCACC others(1205): Show CTACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACA CTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAG ATCCCTCTCCACCCCCCTACCACCACTCACCCGAAAGATCCCTCTCCACC CCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATC ACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGA AAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAC TCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAA AGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTC TCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCC ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAG ATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCAC CCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCACT CACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAA GATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCC AACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCC AACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCC AACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0185 a0001c0001t0185	a0001c0001t0185g0124 a0001c0001t0185g0124	1	398	0.0025	1212	c.64+ others(1229): Show c.64+11860_64+11861insAGAGGGATCTTTCGGGTGAGTGGTGATG GCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATG GCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATG GCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTT TGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGAT GGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTT TCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGA TCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGG TGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTT GGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGG GTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTT CGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGA GAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGGTAGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGG TGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTA	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240781491	C C	CCACACAC others(1205): Show CCACACACACACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACAGCTCCACACACACACACAGCTCCACACACACACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACAGCTCCACACACACAC ACACACAGCTCCACACACACACACACACACAGCTCCACACACACACACAG CTCCACACACACACACACACACAGCTCCACACACACACAGCTCCACACAC ACACAGCTCCACACACACACACACAGCTCCACACACACACACACACAGCT CCACACACACACACACAGCTCCACACACACACACACAGCTCCACACACAC ACACAGCTCCACACACACACACACACACAGCTCCCCACACACACACAGCT CCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACAC ACAGCTCCACACACACACACAGCTCCACACACACACACACACACAGCTCC ACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAG CTCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCAC ACACACACACACAGCTCCACACACACACACACACAGCTCCACACACACAC ACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCT CCACACACACACACACAGCTCCACACACACACACACACACACAGCTCCAC ACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACAC ACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACAGCTCCACACACACAC ACACACAGCTCCACACACACACACACACACAGCTCCACACACACACAGCT CCACACACACACACAGCTCCACACACACACACACACACAGCTCCACACAC ACACAGCTCCACACACACACAGCTCCACACACACACACACAGCTCCACAC ACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACAC ACACAGCTCCACACACACACACAGCTACACACACACACACACACACAGCT CCCCACACACACACAGCTCCACACACACACACACAGCTCCACACACACAC ACAGCTCCACACA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0151 a0001c0011t0009g0151	1	330	0.0030	1212	c.882 others(1229): Show c.882+1098_882+1099insTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGGGAGCTGTGTGTGTGTG TGTGTGTGTAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG GAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG GAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG GGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG GAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATATTTA others(1205): Show CATATTTATACATATTTATATATACATATTTATATACATTTATATACATA TTTATATATACATTTATATATACATTTATATATACATATTTATATATATT TATATATATTTATAGATATATATTTATATATATATTTATATTTATATATA TTTATTTATATTTATATATATTTATATATATTTATTTATATTTATATTTA TATTTATATTTATTTATATTTATATATATTTATATTTATATATTTATATA TATTTATATATATTTATATTTATATATTTATATATTTATATATATTTATA TATATTTATATATATATTTATATATTTATATATATTTATATATATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATTTATATATTTATATATTTATATTTATATTTATATATTTATATA TATTTATATTTATATTTATATATATTTATATATATTTATATACATATATT TATATATATATTTATATACATATATTTATATATATATTTATATATATATT TATATATATATTTATATACATATATTTATATATGTATTTATATATATATT TATATACATATATTTATATATATTTATATATATTTATATACATATATTTA TATATATATTTATATATATATTTATATACATATATTTATATATATTTATA TATATATTTATATATATATTTATATACATATATTTATATATATTTATATA TATATTTATATACATATATTTATATATATTTATATATATTTATATACATA TATTTATATATATATTTATATACATATATTTATATATATATTTATATACA TATATTTATATATATATTTATATATATTTATATACATATATTTATATACA TATATTTATATATTTATATATATTTATATATATTCATATTTATATTTATA TATATTTATATATATATTTATATTTATATATATATTTATATTTAATTATA TTTATATATATTTATATATATATTTATATTTGTATATATTTATATATATG TATATTTATATATATTTATATATTTATATATTTATATTTATATATATCTA TATATTTATATTTATATATATTTATATATTTATATTTATATATATTTATA TTTATATATATTTACATATATTTATATATTTATATTTATATATATTTATA TTTATATATATTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19065.hp2 NA18941.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0199 a0001c0001t0001g0133 a0001c0001t0001g0199	2	242	0.0083	1212	c.174 others(1231): Show c.1749-3774_1749-3773insTTATACATATTTATATATACATATTT ATATACATTTATATACATATTTATATATACATTTATATATACATTTATAT ATACATATTTATATATATTTATATATATTTATAGATATATATTTATATAT ATATTTATATTTATATATATTTATTTATATTTATATATATTTATATATAT TTATTTATATTTATATTTATATTTATATTTATTTATATTTATATATATTT ATATTTATATATTTATATATATTTATATATATTTATATTTATATATTTAT ATATTTATATATATTTATATATATTTATATATATATTTATATATTTATAT ATATTTATATATATATTTATATATTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATTTATATATTTATATATTTATATTT ATATTTATATATTTATATATATTTATATTTATATTTATATATATTTATAT ATATTTATATACATATATTTATATATATATTTATATACATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATACATATATTTATAT ATGTATTTATATATATATTTATATACATATATTTATATATATTTATATAT ATTTATATACATATATTTATATATATATTTATATATATATTTATATACAT ATATTTATATATATTTATATATATATTTATATATATATTTATATACATAT ATTTATATATATTTATATATATATTTATATACATATATTTATATATATTT ATATATATTTATATACATATATTTATATATATATTTATATACATATATTT ATATATATATTTATATACATATATTTATATATATATTTATATATATTTAT ATACATATATTTATATACATATATTTATATATTTATATATATTTATATAT ATTCATATTTATATTTATATATATTTATATATATATTTATATTTATATAT ATATTTATATTTAATTATATTTATATATATTTATATATATATTTATATTT GTATATATTTATATATATGTATATTTATATATATTTATATATTTATATAT TTATATTTATATATATCTATATATTTATATTTATATATATTTATATATTT ATATTTATATATATTTATATTTATATATATTTACATATATTTATATATTT ATATTTATATATATTTATATTTATATATATTTATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LMF1_chr16_848634_975984	953472	G G	GACACCCA others(1205): Show GACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCC AAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCC TACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACA CAGACACGGACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCACC CCAAACCAGCCTCCTGCACGTCCACACAGACACACACCCCAAACCAGCCT CCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCA CACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCA CCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGC CTCCTACACGTCCACACAGACACCCACCCCAGACCAGCTTCCTACACGTC CACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACC CACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCA GCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACG TCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACA CCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACAT CAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACA CGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGA CACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCAC ACCAGCTTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTG CACATCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACA GACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCC AAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCT TACATGTCCACACAGACACCCACTCCAAACCAGCCTCTTACATGTCCACA CAGACACGGACCCCAAACCAGCCTCCTACAAGTCCACAGAGACACGGACC CCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCT CCTGCACGTCCAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0003 a0008c0036t0003	a0008c0036t0003g0277 a0008c0036t0003g0277	1	294	0.0034	1212	c.503 others(1227): Show c.503+884_503+885insGTGGACGTGCAGGAGGCTGGTTTGGGGTGG GTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTCCGTGTCTCTGTGG ACTTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGGACATGTAAGAGG CTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAAGAGGCTGGTTTGGGGT GGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGT GGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGA GGCTGGTGTGGGGTGGGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGG GTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGT GTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAG GAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTG GGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGATGTGGGGTGGGTGTCT GTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGT AGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTG TGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGT CTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACAT GTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGG TCTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGT GTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGAC ATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCT GGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGT GTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGG ACGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGG CTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGT GGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGT GGACGTGTAGGAGGCTGGTTTGGAGTGGGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(1205): Show ACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACAGACCCGA AACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCT ACATGTCCACACAGACACCCACCCCACACCAGCCTCCTACATGTCCACAC AGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCC CAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTC CTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCACACCAGCCTCCTACACATCCACACAGACACAGAC CCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCT TCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCTACATGTCC ACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAG CTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCACACCAGCCTCCTACACATCCACACAGACAC AGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACC AGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCTTCCTACAC GTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGAC ACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACA CCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACCCCAAACCAGCCTCCCACATATCCACACAGACAC CCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCACACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCCAAACCAGCCTCCCACATATCCACACAGACACCC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCACACCAG CCTCCTACACGTCCACACAGACACCCACTCCACACCAGCCTCCTACATGT CCACACAGACACC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0290 a0001c0006t0001g0290	1	294	0.0034	1212	c.503 others(1227): Show c.503+481_503+482insGGTGTCTGTGTGGACATGTAGGAGGCTGGT GTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGAGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGATA TGTGGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTT GGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTGTGGAGTGGGTGTC TGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGATATG TGGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTA GGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTT CGGGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTC TGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTG TAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTG TCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGA TGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTC TGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAG GCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGG TGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTG TGGACGTGCAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACGCCCAC others(1205): Show ACGCCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCTTACATCTACCTCCACGCCCACACTTACACCCACACTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCGCGCTTACACCCACCCACACTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCACACCC GCGCTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	290	0.0035	1212	c.129 others(1229): Show c.1290-978_1290-977insGCCCACACTTACACCCACACTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCGCGCTTACACCCACCCTTACATCTACCTCCACGCCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCGCGCTTACACCCACCCACACTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACTCATGC TTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MFHAS1_chr8_8778354_8898630	8800105	C C	CTAAAAAC others(1205): Show CTAAAAACGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTAGATTTTATCTCATTTTATTGTTATTTTTTTTTTTTTTTTTTTTATT ATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA TGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAG CATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACC ACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATT GTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTC TTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTA CAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTG TATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGG TTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTG TGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCC AGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAG GAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACC AACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTG TTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCT CATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATT TCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTG TTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTA AATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATG AGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTG ATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCA TTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGA AGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCT AGGGTTTTTATGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	324	0.0031	1212	c.299 others(1231): Show c.2999-2615_2999-2614insCCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAA CAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATC ACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCA CACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCA AATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTAT TGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAA CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGAT GAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCA AACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACAT GGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGG GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACAT TAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAAAAAAATAACAATAAAATGAGATAAAATCTAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAATAGCGTTTTTA	MFHAS1	ENSG00000147324.11	transcript	ENST00000276282.7	protein_coding	1/2			chr8	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(1205): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCT GACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCCA CTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0074 a0074	a0074c0084 a0074c0084	a0074c0084t0009 a0074c0084t0009	a0074c0084t0009g0003 a0074c0084t0009g0003	1	282	0.0036	1212	c.25 others(1223): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC TGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGTAA GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGCTCTCGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG AGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGACCC GGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1205): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCCGTCCG GGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCTGCCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CGCCCGCCTGGCCAGCCGCCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCC CGTCCGGGAGGAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0076 a0006c0076	a0006c0076t0005 a0006c0076t0005	a0006c0076t0005g0088 a0006c0076t0005g0088	1	134	0.0075	1212	c.575 others(1233): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCAGACGGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGGACTGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(1205): Show ATATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATATAATATATTATATTATATTATGGATAATATAATATATT ATATTATATTATGGATAATATAATATATTATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATG GATAATCTAATATATTATATTATGGATAATCTAATATATTATATTATATT ATGGATAATCTAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATCTAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATCTAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATATTATATTATGGATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATGGATAATATATTATATTATGGATAATATA ATATATTATGGATAATATATTATATTATGGATAATATAATATATTATGGA TAATATATTATATTATGGATAATATATTATATTATGGATAATATATTATA TTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0036 a0001c0003t0043 a0001c0001t0036 a0001c0003t0043	a0001c0001t0036g0058 a0001c0003t0043g0137 a0001c0001t0036g0058 a0001c0003t0043g0137	2	160	0.0125	1212	c.389 others(1233): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT ATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAA TATAATATATTATATTATATTATGGATAATCTAATATATTATATTATATT ATGGATAATCTAATATATTATATTATGGATAATCTAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATCTAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATCTAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATAATATATTATGGATAATATATTATATTATGGATAAT ATAATATATTATGGATAATATATTATATTATGGATAATATAATATATTAT GGATAATATATTATATTATGGATAATATATTATATTATGGATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RUSC2_chr9_35485111_35566895	35495152	C C	CTATAGTA others(1205): Show CTATAGTATATATAATATATATTTTATATATTATACTATAGTATATATAA TATATATTTTATATATTATACTATAGTATATATAATATATATTTTATATA TTATATATACTATAGTATATATAATATATATTTTATATATTATATATACT ATATATACTATAGTATTATATATACTATTATATATACTGTATATACTATT ATATAGTATATATAATAGTATATATTATACATTATATACTATATATTATA TATACTATTATATATATTATATATTATATATACTATTATATATACTATAG TATATATAATATATATTATATATACTATATATTTTATATATTATATTTTA TATATAATATAATATATTTTATATATATTTTATATATAATATAATATATT TTATATAATATATTATATATTATATAATATATTTTATATAATATATTATA TATTATATATAATATTTTATTATGTAATATATAATATATATTTTATATAT TATATATATTTTATTATATAATATATTTATATATAATATATATTTTATAT ATAATATAATATATTTTATTTTATATAATGTATTATATAATATATAATAT ATAACATATTTTATTATATATTATATAATAATATATAACATATTTTATTA TATATTATATAATAATATATAACATATTTTATTATATATTATATAATAAT ATATAACATATTATATATTATATAATAATATATAACATATTTTATTATAT AATATATAATATATTATATAATATATATTTTATTGTATATAATATATTTT ATTGTATATTATATATAATATATTTTATTGTATATTATATATAATATATT TTATTGTATATTATATATAATATATTTTATTATATAATTTATTATAATAT ATATATTTTATAATATATATAATATATTTTATTATTATATATTTTATTAT AATATATACAATATATTTTATTATAATATATAATATATTTTATAATATAT ATATTTTATTATAATATATATATTTTATAATATATATATTTTATAATATA TATATTTTATTATAATATATATTTTATTATATATAATATATTTTATAATA TATATAATATATTTTATTAAATATATATAATATATTTTATTAAATATATA TAATATATTTTATTAAATATATATAATATATTTTATTAAATATATATAAT ATATTTTATTAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG03654.hp1 others(2): Show HG00642.hp2 HG01433.hp2 HG03654.hp1 HG04184.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0017 a0001c0001 a0001c0002 a0006c0017	a0001c0001t0003 a0001c0002t0003 a0006c0017t0003 a0001c0001t0003 a0001c0002t0003 a0006c0017t0003	a0001c0001t0003g0037 a0001c0002t0003g0030 a0001c0002t0003g0031 others(2): Show a0001c0001t0003g0037 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0006c0017t0003g0016	5	322	0.0155	1212	c.-93 others(1229): Show c.-93+4984_-93+4985insGTATATATAATATATATTTTATATATTA TACTATAGTATATATAATATATATTTTATATATTATACTATAGTATATAT AATATATATTTTATATATTATATATACTATAGTATATATAATATATATTT TATATATTATATATACTATATATACTATAGTATTATATATACTATTATAT ATACTGTATATACTATTATATAGTATATATAATAGTATATATTATACATT ATATACTATATATTATATATACTATTATATATATTATATATTATATATAC TATTATATATACTATAGTATATATAATATATATTATATATACTATATATT TTATATATTATATTTTATATATAATATAATATATTTTATATATATTTTAT ATATAATATAATATATTTTATATAATATATTATATATTATATAATATATT TTATATAATATATTATATATTATATATAATATTTTATTATGTAATATATA ATATATATTTTATATATTATATATATTTTATTATATAATATATTTATATA TAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGTAT TATATAATATATAATATATAACATATTTTATTATATATTATATAATAATA TATAACATATTTTATTATATATTATATAATAATATATAACATATTTTATT ATATATTATATAATAATATATAACATATTATATATTATATAATAATATAT AACATATTTTATTATATAATATATAATATATTATATAATATATATTTTAT TGTATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTAT ATTATATATAATATATTTTATTGTATATTATATATAATATATTTTATTAT ATAATTTATTATAATATATATATTTTATAATATATATAATATATTTTATT ATTATATATTTTATTATAATATATACAATATATTTTATTATAATATATAA TATATTTTATAATATATATATTTTATTATAATATATATATTTTATAATAT ATATATTTTATAATATATATATTTTATTATAATATATATTTTATTATATA TAATATATTTTATAATATATATAATATATTTTATTAAATATATATAATAT ATTTTATTAAATATATATAATATATTTTATTAAATATATATAATATATTT TATTAAATATATATAATATATTTTATTAAATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1098513	G G	GCCCCCCT others(1205): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATG CCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTG CACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGC CCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCC CAGGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCA CACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCCTAACCCTCT GCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCC CTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCTTCTGCACACC CAGCCCCCTTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCT CACCCAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTC TGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTC TAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCC CCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGC ACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCT GCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACC CTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19011.hp1 HG02155.hp2 NA19011.hp1	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0001 a0001c0009t0002 a0001c0006t0001 a0001c0009t0002	a0001c0006t0001g0028 a0001c0009t0002g0114 a0001c0006t0001g0028 a0001c0009t0002g0114	2	118	0.0170	1212	c.125 others(1229): Show c.125-4266_125-4265insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGG GGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGG GTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAAGGTT AGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAG GGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGC ATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGGGGGG GCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAG GGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGC AGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGT GAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGG GGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAG AAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC9A1_chr1_27093809_27160125	27107220	T T	TACACACA others(1205): Show TACACACACCCCCACACACCCACCCAGCCCCTCCACACACACACCCACAC CCACACACCCAGCCCCTCCACACACACACACCCAGCCCCTACACACACCC ACACACCCAGCCCCTCCACACACACACCCACCCCCTACACACACACCCAC ACACCCAGCCCCTACACACACACACCCAGCCCCTACACACACCCACACAC CCAGCCCCTACACACACACACACCCCCAGCCCCCCACACACACCCACACA CCCAGCCCCTACACACACACACACACCCAGCCCCTACACACACACCCAGC CCCTACACACACACCCACACACCCAGCCCCTATACACACACACCCAGCCC CTCCACACACACCCACACACACACCCAGCCCCTACAACACACCCCCACAC CCCCACACACACCCAGCCCCTCCACACACACCCACACACCCAGCCCCTCC ACACACACATATCCAGCCCCTCCACACACACACCCAGCCTCTCCACACAC ACACCCAGCCCCTACACACCCAGCCTCTACACACACACACACCCAGCCCC TCCACACACACACACACATCCAGCCCCATCCACACGCACACACACCCAGC CCCTCCACACACACACACACCCAGCCCCATCCACACACATACCCAGCCCC TACACACACACCCAGCTCCTCCACACACACACACCCAGCCCCTCCAGACA CCATCCAGCCCCTCCACACACACAAAGCACCTCCTCCACCCCACACACAG GCCCTCCACATACACACACCCAGCCCTTCCACACACACCCAGCCCCTCCA CACACACACACACCCATCTCCACACATACACACACAGCCCCTCCACACAC AAACCCATCTCCATACACACACACACACCCAGCCCCTCCCACTCCCAGCC CCTCCACACATACACACACAGCCCCTCCACACACAAACCCATCTCCATAC ACACACACACACCCAGCCCCTCCCACTCCCAGCCCCTCCACACACACACA CCCAGCCCCTCCCACTCCCAGCCCCTCCACACACACACACCCAGCCCCTT CACACACACACCCAGCCCCTCCCACTCCCAGCCCCTCCACACACACACAC CCAGCCCCTTCACACACACACCCAGCCCCTACACACACACATTCAGCCCC TACACACATACACACACACAAAGCCCCTTCACACAATACACTACACACAC ACCCAGCACCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0063 a0002c0006t0012g0063	1	234	0.0043	1212	c.128 others(1229): Show c.1282+427_1282+428insGGAGGTGCTGGGTGTGTGTGTAGTGTAT TGTGTGAAGGGGCTTTGTGTGTGTGTATGTGTGTAGGGGCTGAATGTGTG TGTGTAGGGGCTGGGTGTGTGTGTGAAGGGGCTGGGTGTGTGTGTGTGGA GGGGCTGGGAGTGGGAGGGGCTGGGTGTGTGTGTGAAGGGGCTGGGTGTG TGTGTGTGGAGGGGCTGGGAGTGGGAGGGGCTGGGTGTGTGTGTGTGGAG GGGCTGGGAGTGGGAGGGGCTGGGTGTGTGTGTGTGTATGGAGATGGGTT TGTGTGTGGAGGGGCTGTGTGTGTATGTGTGGAGGGGCTGGGAGTGGGAG GGGCTGGGTGTGTGTGTGTGTATGGAGATGGGTTTGTGTGTGGAGGGGCT GTGTGTGTATGTGTGGAGATGGGTGTGTGTGTGTGTGGAGGGGCTGGGTG TGTGTGGAAGGGCTGGGTGTGTGTATGTGGAGGGCCTGTGTGTGGGGTGG AGGAGGTGCTTTGTGTGTGTGGAGGGGCTGGATGGTGTCTGGAGGGGCTG GGTGTGTGTGTGTGGAGGAGCTGGGTGTGTGTGTAGGGGCTGGGTATGTG TGTGGATGGGGCTGGGTGTGTGTGTGTGTGGAGGGGCTGGGTGTGTGTGC GTGTGGATGGGGCTGGATGTGTGTGTGTGTGTGGAGGGGCTGGGTGTGTG TGTGTGTAGAGGCTGGGTGTGTAGGGGCTGGGTGTGTGTGTGGAGAGGCT GGGTGTGTGTGTGGAGGGGCTGGATATGTGTGTGTGGAGGGGCTGGGTGT GTGGGTGTGTGTGGAGGGGCTGGGTGTGTGTGGGGGTGTGGGGGTGTGTT GTAGGGGCTGGGTGTGTGTGTGGGTGTGTGTGGAGGGGCTGGGTGTGTGT GTATAGGGGCTGGGTGTGTGGGTGTGTGTGTAGGGGCTGGGTGTGTGTGT AGGGGCTGGGTGTGTGTGTGTGTGTAGGGGCTGGGTGTGTGGGTGTGTGT GGGGGGCTGGGGGTGTGTGTGTGTGTAGGGGCTGGGTGTGTGGGTGTGTG TAGGGGCTGGGTGTGTGTGTGTAGGGGCTGGGTGTGTGGGTGTGTGTGTA GGGGGTGGGTGTGTGTGTGGAGGGGCTGGGTGTGTGGGTGTGTGTAGGGG CTGGGTGTGTGTGTGTGGAGGGGCTGGGTGTGTGGGTGTGGGTGTGTGTG TGGAGGGGCTGGGTGGGTGTGTGGGGGTGTGTGT	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	4/11			chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATACGTAT others(1205): Show ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACATAAATGTATATACGTATATATACATGTATTATACAT ACATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTA TATACGTATATATACATGTATTATACATACATAAATGTATATACGTATAT ATACATGTATTATACATACATAAATGTATATACGTATATATACATGTATT ATACATACATAAATGTATATACGTATATATACATGTATTATACATACATA AATGTATATACGTATATATACATGTATTATACATACATAAATGTATATAC GTATATATACATGTATTATACATACATAAATGTATATACGTATATATACA TGTATTATACATACGTAAATGTATATACGTATATATACATGTATTATACA TACGTAAATGTATATACGTATATATACATGTATTATACATACGTAAATGT ATATACGTATATATACATGTATTATACATACGTAAATGTATATATACATT ATACATACGTAAATGTATATATGTATATATACATTATACATACGTAAATG TATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATAC ATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAA TGTATATATGTATATATACATTATACATACGTAAATGTATATATGTATAT ATACATTATACATACGTAAATGTATATATGTATATATACATTATACATAC GTAAATGTATATATGTATATATACATTATACATACGTAAATGTATTATAC ATAAATGTATATATGTATATATACATGTATTATACATACATAAATGTATA TATGTATATATACATGTATTATACATACATAAATGTATATATACATGTAT TATACATACATAAATGTATATGTGTATATATACATGTATTATACATACAT AAATGTATATATG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0290 a0001c0001t0004g0290	1	388	0.0026	1212	c.-23 others(1229): Show c.-23+2591_-23+2592insCATATATACATTTATGTATGTATAATAC ATGTATATATACACATATACATTTATGTATGTATAATACATGTATATATA CATTTATGTATGTATAATACATGTATATATACATATATACATTTATGTAT GTATAATACATGTATATATACATATATACATTTATGTATAATACATTTAC GTATGTATAATGTATATATACATATATACATTTACGTATGTATAATGTAT ATATACATATATACATTTACGTATGTATAATGTATATATACATATATACA TTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAA TGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATATATACATTTACGTATGTATAATGTATATATACAT TTACGTATGTATAATACATGTATATATACGTATATACATTTACGTATGTA TAATACATGTATATATACGTATATACATTTACGTATGTATAATACATGTA TATATACGTATATACATTTACGTATGTATAATACATGTATATATACGTAT ATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATG TATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATA CATGTATATATACGTATATACATTTATGTATGTATAATACATGTATATAT ACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATACA TTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGT ATAATACATGTATATATACGTATATACATTTATGTATGTATAATACATGT ATATATACGTATATACATTTATGTATGTATAATACATGTATATATACGTA TATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTAT GTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAAT ACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATATA TACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATAC ATTTATGTATGTATAATACATGTATATATACGTA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSR2_chrX_54435404_54453032	54445834	A A	ACACTCCT others(1205): Show ACACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCGCAAAGTGCTCC GATTACAGGCGTGAGCCACCATGCCCGGCCTTGGGCATGTTATTTCCAGG TTCAGATATTAGGTTTTCAGTCTGAGGGAAGCTGTTTCAGAACATGGGCT CAGTCTACACTTTCAGCAGGGGGGATGAGTTTGTGGCTTTAGTATGTGAT GGGTCCTTCTGGGAACTCACCCTGGGCCCATTTGCAGGATATCAGTCCCA GTCCCCATACTCCTTCAAGGAGCTAAGTTTGGGGACTCAGTCCCGTGGCT CTACCTAGAGGCTCATTATGGGCATTATGGGGACATGACTTTAAGGTTAA GGGTTTACATGTTGATGGTTCACTCTTTTTTTTTTTTGAGACAGGGATCT GGCTCTGTCACCCATGCTGGAGTGCACTGCTGCCATCTCTGCTCATTGCA ACCCCCGCCTCCTGGGCCCAAGCTGATCCTCCAACCTCAGCCTCCAGGGT AGCTTGGAGACCGCAGGCATGTCCCACCAAGTCCTGCTAATTTTTGTATT TTTTTCAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCC TGGACTCAAGGAATCTGCCCAGATGGTTCACTCTTGAGACACTAATTCTA GTGTTTCAGTTGGGAGAGGATTTGATATGGGAGCCTGATATTTTCTCTGA CATATGACTAAGCCTCTCACTGAGTGAGTGCCAGTTTCAGAGCTCAGTCT GCTCAGGTATTGGAAGCCCAGTCTGGAGATTTTAGCCTGAGGTCAAGCCT AGGAGATACGGATGTGATGGCCTCACCCAGGGATGTCTGTCTGGTGGGCT CTGTCTTGGGATGCCAGGCTTGGTCCTAATCTGAAATTTTCTTTTCTTTC TTTTTTTTTTTTGAGACAGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGT GGCGTGATCTCGGCTTACTGCAACCTCCACCTCCCGGGTTCAAGCAATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCACGTGCCACCACG CCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGC CAGGCTGGTCTTGAACTCCTGACCCTGTGATTTACCCACTTTGGCCTCCC AAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTATACCTGGT ACTGTTCTAAGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0001 a0001c0001t0024g0001	1	295	0.0034	1212	c.12 others(1223): Show c.1284_*1285insCACTCCTGACCTCAAGTGATCTGCCCGCCTCAGC CTCGCAAAGTGCTCCGATTACAGGCGTGAGCCACCATGCCCGGCCTTGGG CATGTTATTTCCAGGTTCAGATATTAGGTTTTCAGTCTGAGGGAAGCTGT TTCAGAACATGGGCTCAGTCTACACTTTCAGCAGGGGGGATGAGTTTGTG GCTTTAGTATGTGATGGGTCCTTCTGGGAACTCACCCTGGGCCCATTTGC AGGATATCAGTCCCAGTCCCCATACTCCTTCAAGGAGCTAAGTTTGGGGA CTCAGTCCCGTGGCTCTACCTAGAGGCTCATTATGGGCATTATGGGGACA TGACTTTAAGGTTAAGGGTTTACATGTTGATGGTTCACTCTTTTTTTTTT TTGAGACAGGGATCTGGCTCTGTCACCCATGCTGGAGTGCACTGCTGCCA TCTCTGCTCATTGCAACCCCCGCCTCCTGGGCCCAAGCTGATCCTCCAAC CTCAGCCTCCAGGGTAGCTTGGAGACCGCAGGCATGTCCCACCAAGTCCT GCTAATTTTTGTATTTTTTTCAGAGACAGGGTTTTGCCATGTTGCCCAGG CTGGTCTCAAACTCCTGGACTCAAGGAATCTGCCCAGATGGTTCACTCTT GAGACACTAATTCTAGTGTTTCAGTTGGGAGAGGATTTGATATGGGAGCC TGATATTTTCTCTGACATATGACTAAGCCTCTCACTGAGTGAGTGCCAGT TTCAGAGCTCAGTCTGCTCAGGTATTGGAAGCCCAGTCTGGAGATTTTAG CCTGAGGTCAAGCCTAGGAGATACGGATGTGATGGCCTCACCCAGGGATG TCTGTCTGGTGGGCTCTGTCTTGGGATGCCAGGCTTGGTCCTAATCTGAA ATTTTCTTTTCTTTCTTTTTTTTTTTTGAGACAGTCTCACTCTGTTGCCC AAGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCACCTCCC GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAG GCACGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCTGTGATTTAC CCACTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCC TGGCCTATACCTGGTACTGTTCTAAGCT	TSR2	ENSG00000158526.8	transcript	ENST00000375151.5	protein_coding	5/5	1285		chrX	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGAAGG others(1206): Show AAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAA GGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGG AAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGA GAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGG AGAGGGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGA AGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAG GGGAAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG GGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGG AGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGG AAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGA GGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGG AGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAG GGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAAG GAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGG GAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAGG GGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAAAGG AAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAAG AAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGG AAAGGGAAGGGGAAGATGAAGGGGAAGGGAAGGGGAAGATGAAGGGGAAG GGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAAG GGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0151 a0002c0004t0002g0151	1	242	0.0041	1213	c.927 others(1230): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTTCCTTT CCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCT TCCCCTTCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCC TTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCT TCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCC TTCCCCTTCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCT TCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTT CCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCT TCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCT TCCCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCC TCTTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTC CCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCT CTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCC TTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTTCCCTTTCCCTT CCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTCCCCTTCCTTCCT CTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCCTTTCTTTCCCC TTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCC TTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCTCCTTCC CTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCC CCTTCCCTTCCCCTTCCCTTCCCCTCCCCCTTCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1206): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGG AAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGG GAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGG GCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAA TGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAA GGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGG GGGAGGGGAAGGGGGAGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGG AGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGG AAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGA GGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGG AGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAG GGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAAG GAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGG GAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAGG GGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAAAGG AAGGGGAAGGGAAGGAGAAGGGAGGGGAAGGGGAAGGGAAAAGGAGAAGA AGAGGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGG AAAGGGAAGGGGAAGATGAAGGGGAAGGGAAGGGGAAGATGAAGGGGAAG GGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAAG GGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0074 a0002c0004t0002g0074	1	242	0.0041	1213	c.927 others(1230): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTTCCTTT CCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCT TCCCCTTCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCC TTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCT TCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCCTCTTCTTCTCCTTTTCC CTTCCCCTTCCCCTCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCT TCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTT CCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCT TCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCT TCCCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCC TCTTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTC CCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCT CTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCC TTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTT CCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTCC CCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCC TTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCC TTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCCT TTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCC CCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1206): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGG AAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGG GAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGG GCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAA TGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAA GGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGG GGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATG GAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGG AGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGG GAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAG GGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAAG GAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGG GAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAGG GGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAAAGG AAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAAG AAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGG AAAGGGAAGGGGAAGATGAAGGGGAAGGGAAGGGGAAGATGAAGGGGAAG GGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAAG GGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0075 a0002c0004t0002g0075	1	242	0.0041	1213	c.927 others(1230): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTTCCTTT CCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCT TCCCCTTCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCC TTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCT TCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCC TTCCCCTTCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCT TCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTT CCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCT TCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCT TCCCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCC TCTTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCC CCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTC TTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCC CTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCCT TTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTT CCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTCC CCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCC TTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCC TTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCCT TTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCC CCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
CENPM_chr22_41933737_41952152	41939822	G G	GAAAGAAA others(1206): Show GAAAGAAAGAAAGAAAGAAAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	258	0.0039	1213	c.403 others(1228): Show c.403-627_403-626insTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTCTTTTTCTTTCTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1206): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAGAAAGAAAAGAAAGAAAAGAAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAAAGAAAGGAAAATAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	258	0.0039	1213	c.403 others(1228): Show c.403-645_403-644insCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTATTTTCCTTTC TTTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTTCTTTCTTTTCTTTCTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1206): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGG GTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGAT AATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGG CGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTG TATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATG GGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGG GGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAG ATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGT GGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0070 a0001c0003t0005g0070	1	272	0.0037	1213	c.109 others(1232): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTA TAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAAT ATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAG GGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTT ATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGG GGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGG TGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGA TAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1206): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGG GTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGAT AATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGG CGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTG TATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATG GGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGG GGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAG ATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGT GGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0078 a0001c0003t0008g0078	1	272	0.0037	1213	c.109 others(1232): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTA TAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAAT ATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAG GGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTT ATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGG GGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGG TGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGA TAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1206): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGG GTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGAT AATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGG CGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTG TATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATG GGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGG GGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAG ATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGT GGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01255.hp2 others(9): Show HG00423.hp1 HG00438.hp1 HG01255.hp2 HG01952.hp1 HG03688.hp2 NA18967.hp1 NA18971.hp1 NA18999.hp1 NA18999.hp2 NA19011.hp1 NA19074.hp2 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0014 a0001c0028 a0004c0029 a0004c0067	a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0004t0003 a0001c0004t0030 a0001c0008t0002 a0001c0014t0002 a0001c0028t0004 a0004c0029t0005 a0004c0067t0001	a0001c0001t0059g0093 a0001c0002t0001g0144 a0001c0002t0002g0062 others(9): Show a0001c0001t0059g0093 a0001c0002t0001g0144 a0001c0002t0002g0062 a0001c0002t0011g0095 a0001c0004t0003g0145 a0001c0004t0030g0253 a0001c0008t0002g0092 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0028t0004g0213 a0004c0029t0005g0100 a0004c0067t0001g0094	12	272	0.0441	1213	c.109 others(1232): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTA TAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAAT ATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAG GGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTT ATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGG GGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGG TGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGA TAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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