Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CBFA2T3_chr16_88869858_88982207	88975123	C C	CCTCTGCT others(695): Show CCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTGC TCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCACAT CTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTCACCTGCAGC CATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGT CAGAGGTCCACCCTGATCCTCTGCTCCTGACCTGCAGCCATGTCAGAGGT CCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACC CTGACCCTCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGACCC TCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTGC TCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTG ACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTCACCTGCA GCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCAT GTCAGAGGTCCACCCTGACCCTCTGCTCCTCACCTGCAGCCATGTCAGAG GTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCA CCCTGATCCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGAC CCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	284	0.0035	702	c.151 others(719): Show c.151+1533_151+1534insAGGGTCAGGGTGGACCTCTGACATGGCT AAAGATGTGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTC AGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAG CAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAG GGTCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGATCAGG GTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGA CCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGTCAGGGTGGACCTCTGA CATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGG CTGCAGGTGAGGAGCAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGG TCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGG AGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAG AGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGTCA GGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGGATCAGGGTGGA CCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGTCAGGGTGGACCTCTGA CATGGCTGGAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(695): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	702	c.69 others(713): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(695): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	702	c.69 others(713): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(695): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0092 a0001c0001t0020g0092	1	168	0.0060	702	c.-26 others(711): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTCC CCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(695): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGAGGAG GGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTG GGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGGAGGA GGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	168	0.0060	702	c.-26 others(711): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCC CAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCCCAGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTCC CCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(695): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 NA20129.hp1 HG01106.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0087 a0001c0001t0004g0089	2	168	0.0119	702	c.-26 others(711): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCAGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTC CTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCT CCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTCC CCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(695): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCA GGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGG AGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAG GAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0002 a0002c0047t0002	a0002c0047t0002g0338 a0002c0047t0002g0338	1	344	0.0029	702	c.85- others(719): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(695): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAGGG GAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAGTC TCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGC AAGCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAGTA GTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAGTA GAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGGTCTCCCAAAGTG CTGGGATTACAGGTGTGAGCCACCATGCCCGGCCCTCAAATCATCAGACT TTTAAGAAAATGTCTCTCTCCAGGTATTTCTTGAGAGTTTGGAAAATCAG CATCAGCTGGGCACAGTGGCTCACGCCTATAATCCCAGGACTTTGGGAGG TCA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	324	0.0031	702	c.827 others(717): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGACCATCCTGG CTAACACGGTGAAACCCTGTCTCTACTACAAATACCAAAAATTAGCCAGG CATGGGGCACCTGTAGGCCCAACTACTTGGGAGGCTCAAGCAGGAGAATG GCTGAACTTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCA CTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAGTC TTATGATTTGAAATTGATCTCTCCCCTGCATTCTTTTTTAGAAGATGTAG ACTCATTTATTAATTAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGTGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
DLGAP2_chr8_732628_1713476	759057	A A	ACCTTCCC others(695): Show ACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCT GACAGCTTTCCCATTATCAATACCCCCCACAGCCTTCCCATTATCAATAC CCCTGACAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCA ATACCCCTGACAGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATT ATCAATACCCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCC CATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCCACAGCC TTCCCGTTATCAATACCCCCCACAGCCTTCCCATTATCAATACCCCTGAC AGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCC CCACAGCCTTCCCGTTATCAATACCCCCGACAACCTTCCCGTTATCAATA CCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATC AATACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCAT TATCAATACCCCCCACAACCTTCCCGTTATCAATACCCCCGACAGCCTTC CCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAAC CTTCCCATTATCAATACCCCCCACAGCCTTCCCATTATCAATACCCCTGA CAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	702	c.18+ others(719): Show c.18+21254_18+21255insGACAGCCTTCCCATTATCAATACCCCTG ACAGCTTTCCCATTATCAATACCCCCCACAGCCTTCCCATTATCAATACC CCTGACAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAA TACCCCTGACAGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTA TCAATACCCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCC ATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCCACAGCCT TCCCGTTATCAATACCCCCCACAGCCTTCCCATTATCAATACCCCTGACA GCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCC CACAGCCTTCCCGTTATCAATACCCCCGACAACCTTCCCGTTATCAATAC CCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCA ATACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATT ATCAATACCCCCCACAACCTTCCCGTTATCAATACCCCCGACAGCCTTCC CATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACC TTCCCATTATCAATACCCCCCACAGCCTTCCCATTATCAATACCCCTGAC AGCCTTCCCATTATCAATACCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	759111	G G	GCTTTCCC others(695): Show GCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCC CACAGCCTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCAATAC CCCCCACAGCCTTCCTGTTATCAATACCCCCGACAGCCTTCCCATTATCA ATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATT ATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCC CATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACC TTCCCATTATCAATACCCCCCACAGCCTTCCCGTTATCAATACCCCCGAC AGCCTTCCCATTATCAATACCCCCCACAGCCTTCCCATTATCAATACCCC TGACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATA CCCCTGACAGCTTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATC AATAACCCCCACAACCTTCCCATTATCAATACCCCTGACAGCTTTCCCAT TATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCCACAGCCTTC CCGTTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCCACAGC CTTCCTGTTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCA CAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	702	c.18+ others(719): Show c.18+21287_18+21288insTTTCCCATTATCAATACCCCCCACAACC TTCCCATTATCAATACCCCCCACAGCCTTCCCGTTATCAATACCCCCGAC AGCCTTCCCATTATCAATACCCCCCACAGCCTTCCTGTTATCAATACCCC CGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATA CCCCCGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATC AATACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCAT TATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCCACAGCCTTC CCGTTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCCACAGC CTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCA CAACCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCC CTGACAGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAAT ACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTAT CAATACCCCCCACAGCCTTCCCGTTATCAATACCCCCGACAGCCTTCCCA TTATCAATACCCCCCACAGCCTTCCTGTTATCAATACCCCTGACAGCTTT CCCATTATCAATACCCCCCACAAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991920	T T	TCCTTGCC others(695): Show TCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCCCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCTCCTTGCCCGGACCCCCTCCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTGCCCAGACCCCCTCCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTCCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCACACCCCCTGCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACC CCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCG GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTG CCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTC CTTGCCCGGACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTC CCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	702	c.73+ others(719): Show c.73+83962_73+83963insGGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCCCCTTGCCCACACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTCCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTCCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGAC CCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCC ACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCAGACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCGGACCCCCTCCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCCCCTTGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400566	C C	CCACCACC others(695): Show CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCAC CATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGC ATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCAC CATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCT TCACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCACC TCCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCAC CAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0095 a0002c0095	a0002c0095t0001 a0002c0095t0001	a0002c0095t0001g0002 a0002c0095t0001g0002	1	256	0.0039	702	c.323 others(721): Show c.3234+1314_3234+1315insTCCACCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCAC CTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCA CCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACC ATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCACCA TCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCCC ACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCAC CACCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACC ATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCAC CACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400952	A A	ACCACCAC others(695): Show ACCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCAC CACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCTCC ACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTC CTTCACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCA CCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCAC CATCACCACCTCCTTCACCATCACCACCACCTCCTCCACCATCACCACCA CCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0041 a0041	a0041c0053 a0041c0053	a0041c0053t0001 a0041c0053t0001	a0041c0053t0001g0101 a0041c0053t0001g0101	1	256	0.0039	702	c.323 others(721): Show c.3234+1729_3234+1730insTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCACCA CCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACC ACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCAT CACCACCTCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCTCCACCATCACCACCACCACCATCACCACCTCC TTCACCATCACCACCACCTCCTCCACCATCACCACCACCTCCACCACCAC CACCTCCTCCACCATCACCACCTCCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYSF_chr2_71448561_71691763	71618389	G G	GGGTGTGT others(695): Show GGGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGT GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGT GGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGG TGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTT TGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGA GGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGG GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTG TGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGT GTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA GGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0153 a0001c0006t0002g0153	1	192	0.0052	702	c.441 others(721): Show c.4410+4979_4410+4980insGGTGTGTGTGTGTGTGTGGTAGAGGT GGCATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGT GTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG GGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGT GGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGT GTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAA AGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTG TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG TGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG TGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAG AGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGTGTGGTAGAGGT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54			chr2	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(695): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG GTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00738.hp1 others(37): Show HG00438.hp2 HG00673.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01433.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02258.hp2 HG02486.hp1 HG02683.hp1 HG02809.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp1 HG06807.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA19009.hp2 NA19064.hp2 NA19068.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0003 a0001c0006 others(10): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0001c0013 a0001c0016 a0001c0017 a0001c0024 a0001c0025 a0001c0048 a0001c0074 a0006c0085 a0008c0045	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0001c0006t0002 a0001c0011t0001 a0001c0013t0001 a0001c0016t0002 a0001c0017t0001 a0001c0024t0001 a0001c0025t0002 a0001c0048t0002 a0001c0074t0001 a0006c0085t0001 a0008c0045t0001	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(37): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0126 a0001c0001t0002g0018 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0003t0001g0066 a0001c0003t0001g0076 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0123 a0001c0003t0001g0157 a0001c0006t0001g0070 a0001c0006t0002g0170 a0001c0011t0001g0075 a0001c0011t0001g0171 a0001c0013t0001g0083 a0001c0016t0002g0019 a0001c0016t0002g0021 a0001c0017t0001g0034 a0001c0017t0001g0039 a0001c0024t0001g0054 a0001c0024t0001g0125 a0001c0025t0002g0188 a0001c0048t0002g0028 a0001c0074t0001g0134 a0006c0085t0001g0168 a0008c0045t0001g0132	40	192	0.2083	702	c.441 others(721): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618389	G G	GGGTGTGT others(695): Show GGGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGT GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGT GGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGG TGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTT TGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGA GGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGG GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTG TGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGT GTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA GGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0151 a0001c0006t0002g0151	1	208	0.0048	702	c.446 others(721): Show c.4465-2158_4465-2157insGGTGTGTGTGTGTGTGTGGTAGAGGT GGCATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGT GTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG GGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGT GGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGT GTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAA AGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTG TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG TGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG TGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAG AGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGTGTGGTAGAGGT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55			chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(695): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG GTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00738.hp1 others(43): Show HG00438.hp2 HG00673.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01433.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG06807.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA19010.hp1 NA19010.hp2 NA19064.hp2 NA19068.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0008 a0010	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0016 a0001c0018 a0001c0024 a0001c0025 a0001c0050 a0001c0079 a0005c0034 a0007c0027 a0008c0091 a0010c0046	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0016t0001 a0001c0018t0001 a0001c0024t0001 a0001c0025t0002 a0001c0050t0001 a0001c0079t0001 a0005c0034t0002 a0007c0027t0007 a0008c0091t0002 a0010c0046t0001	a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0078 others(43): Show a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0003t0001g0010 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0047 a0001c0003t0001g0055 a0001c0003t0001g0098 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0002g0161 a0001c0006t0001g0121 a0001c0006t0002g0176 a0001c0008t0001g0109 a0001c0008t0001g0126 a0001c0008t0002g0157 a0001c0008t0002g0178 a0001c0009t0001g0053 a0001c0009t0001g0064 a0001c0016t0001g0026 a0001c0016t0001g0027 a0001c0018t0001g0088 a0001c0018t0001g0100 a0001c0024t0001g0054 a0001c0024t0001g0085 a0001c0025t0002g0191 a0001c0050t0001g0028 a0001c0079t0001g0068 a0005c0034t0002g0153 a0007c0027t0007g0159 a0008c0091t0002g0174 a0010c0046t0001g0066	46	208	0.2212	702	c.446 others(721): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(695): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02735.hp2 HG02451.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0239 a0001c0001t0007g0249 a0001c0001t0001g0239 a0001c0001t0007g0249	2	250	0.0080	702	c.417 others(719): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(695): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	250	0.0040	702	c.417 others(719): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ATACTCAC others(695): Show ATACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	250	0.0040	702	c.417 others(719): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCCCGACTCACTGTGAGTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(695): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	250	0.0040	702	c.417 others(719): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(695): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03540.hp2 HG03669.hp2 others(1): Show HG00408.hp1 HG03540.hp2 HG03669.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0001g0210 a0001c0001t0001g0237 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0210 a0001c0001t0001g0237 a0001c0001t0002g0139	4	250	0.0160	702	c.417 others(719): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(695): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03834.hp2 NA19010.hp2 others(1): Show HG02015.hp2 HG03834.hp2 NA19010.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0149 others(1): Show a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0149 a0001c0001t0009g0248	4	250	0.0160	702	c.417 others(719): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221472	G G	ACACTCAC others(695): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	250	0.0040	702	c.417 others(719): Show c.417-7224_417-7223insTCTAGAGTGTACCTCGGCCATTGTGTGC GTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCA TTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCG GCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTAC CTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGT GTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTA GAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGC TCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGA GTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACT GTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACT CACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCC GACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGT TCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGT GTGTTCCCGACTCACTGTGAGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221526	A A	ACACTCAC others(695): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	250	0.0040	702	c.417 others(719): Show c.417-7279_417-7278insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(695): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG03490.hp1 others(3): Show HG00735.hp2 HG01071.hp2 HG03490.hp1 NA18952.hp1 NA18960.hp1 NA18993.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0020	a0001c0002 a0002c0001 a0004c0005 others(1): Show a0001c0002 a0002c0001 a0004c0005 a0020c0035	a0001c0002t0001 a0002c0001t0001 a0004c0005t0001 others(1): Show a0001c0002t0001 a0002c0001t0001 a0004c0005t0001 a0020c0035t0001	a0001c0002t0001g0106 a0002c0001t0001g0081 a0002c0001t0001g0184 others(3): Show a0001c0002t0001g0106 a0002c0001t0001g0081 a0002c0001t0001g0184 a0002c0001t0001g0208 a0004c0005t0001g0035 a0020c0035t0001g0090	6	208	0.0289	702	c.282 others(721): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(695): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATAAA TATATATATTTATATATAAATATATATATTTATATATATATTTATATATA AATATATATATTTATATATAAATATATATATTTATATATATAAATATATA TATTTATATATATAAATATATATATATTTATATTTACAAATATATATATT TATATATATATTTATATTTATATATATTTATATTTATATATATATATATA AATATATATTTATGTATATTTATATATAAATATAAATATATATTTATATA TAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	208	0.0048	702	c.-97 others(719): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATAAATATATATATTTATATATAAATATATATATTTATATATATATTT ATATATAAATATATATATTTATATATAAATATATATATTTATATATATAA ATATATATATTTATATATATAAATATATATATATTTATATTTACAAATAT ATATATTTATATATATATTTATATTTATATATATTTATATTTATATATAT ATATATAAATATATATTTATGTATATTTATATATAAATATAAATATATAT TTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(695): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATATAAA TATATATATTTATATATAAATATATATATTTATATATAAATATATATATA AATATATATATTTATATATAAATATATATATTTATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATATATAAATA TATATATTTATATATATAAATATATATATATTTATATTTACAAATATATA TATTTATATATATATTTATATTTATATATATTTATATTTATATATATATA TATATATATTTATGTATATTTATATATAAATATAAATATATATTTATATA TAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0130	1	208	0.0048	702	c.-97 others(719): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATAAATATATATATTTATATATAAATAT ATATATAAATATATATATTTATATATAAATATATATATTTATATATATAT TTATATATATAAATATATATATTTATATATAAATATATATATTTATATAT ATAAATATATATATTTATATATATAAATATATATATATTTATATTTACAA ATATATATATTTATATATATATTTATATTTATATATATTTATATTTATAT ATATATATATATATATTTATGTATATTTATATATAAATATAAATATATAT TTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(695): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATTTATATATA TAAATATATATATTTATATTTATATATATATATAAATATATATATTTATA TATATATATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATATTTATATTTATATT TATATATTTATATTTATATATATAAATATATATATTTATATTTATTTATA TATATAAATATATATATTAATATATATTTATATATATAAATATATATATT TATATATAAATATATATTTATGTATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATAAATATATATATTTATATATATATTTATATATA AATATATATATTTATATATAAATATATATATTTGTATATATAAATATATA TATTTATATATATAAATATATATATATTTATATTTACAAATATATATATT TATATATATATTTATATTTATATATATTTATATTTATATATATATATATA AATATATATTTATGTATATTTATATATAAATATAAATATATATTTATATA TAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	208	0.0048	702	c.-97 others(719): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATTT ATATATATAAATATATATATTTATATTTATATATATATATAAATATATAT ATTTATATATATATATAAATATATATATTTATATTTATTTATATATATAA ATATATATATTTATATTTATTTATATATATATAAATATATATATTTATAT TTATATTTATATATTTATATTTATATATATAAATATATATATTTATATTT ATTTATATATATAAATATATATATTAATATATATTTATATATATAAATAT ATATATTTATATATAAATATATATTTATGTATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATAAATATATATATTTATATATATATTT ATATATAAATATATATATTTATATATAAATATATATATTTGTATATATAA ATATATATATTTATATATATAAATATATATATATTTATATTTACAAATAT ATATATTTATATATATATTTATATTTATATATATTTATATTTATATATAT ATATATAAATATATATTTATGTATATTTATATATAAATATAAATATATAT TTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCA1_chr2_236319151_236512476	236345145	T T	TGTGCTTC others(695): Show TGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCGCTTCCCT CTGGGGTGTGCAGAGCCCTGGTTGTAAATGTGCTTCTCTCTCAGGTGTGC AGAGCCCTGGTTGTAAATGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGT TGTGAACGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGTGC TTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCGCTTCCCTCTGGG GTGTGCAGAGCCCTGGTTGTAAATGTGCTTCTCTCTCAGGTGTGCAGAGC CCTGGTTGTAAATGCGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAA ATGTGCTTCTCTCTCAGGTGTGCAGAGCCCTGGTTGTAAATGTGCTTCCC TCTGGGGTGTGCAGAGCCCTGGTTGTGAACGTGCTTCCCTCTGGGGTGTG CAGAGCCCTGGTTGTAAACGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGG TTGTAAATGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCA CTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCACTACCCTCTCG GGTGTGCAGAACCCTGGTTGTAACTGTGCTTCCCTTAGGGGTGTGCAGAG CCCTGGTTGTAAATGCACTTCCCTCTGGGGTGTGCAGAACCCTGGTTGTA AAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp2 NA19030.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0002 a0002c0013t0002 a0002c0002t0002 a0002c0013t0002	a0002c0002t0002g0135 a0002c0013t0002g0158 a0002c0002t0002g0135 a0002c0013t0002g0158	2	208	0.0096	702	c.187 others(719): Show c.1870-503_1870-502insGTTTACAACCAGGGTTCTGCACACCCCA GAGGGAAGTGCATTTACAACCAGGGCTCTGCACACCCCTAAGGGAAGCAC AGTTACAACCAGGGTTCTGCACACCCGAGAGGGTAGTGCATTTACAACCA GGGCTCTGCACACCCCAGAGGGAAGTGCATTTACAACCAGGGCTCTGCAC ACCCCAGAGGGAAGCACATTTACAACCAGGGCTCTGCACACCCCAGAGGG AAGCACGTTTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCACGTTCA CAACCAGGGCTCTGCACACCCCAGAGGGAAGCACATTTACAACCAGGGCT CTGCACACCTGAGAGAGAAGCACATTTACAACCAGGGCTCTGCACACCCC AGAGGGAAGCGCATTTACAACCAGGGCTCTGCACACCTGAGAGAGAAGCA CATTTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCGCATTTACAACC AGGGCTCTGCACACCCCAGAGGGAAGCACATTTACAACCAGGGCTCTGCA CACCCCAGAGGGAAGCACGTTCACAACCAGGGCTCTGCACACCCCAGAGG GAAGCACATTTACAACCAGGGCTCTGCACACCTGAGAGAGAAGCACATTT ACAACCAGGGCTCTGCACACCCCAGAGGGAAGCGCATTTACAACCAGGGC TCTGCACACCCCAGAGGGAAGCAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
KIF25_chr6_167992671_168050091	167997284	G G	GGGGGCGG others(695): Show GGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCA GAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0304 a0001c0001t0017g0304	1	375	0.0027	702	c.-21 others(713): Show c.-2185_-2184insGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG TCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		386		chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360614	A A	ATGGATAG others(695): Show ATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGT GGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGG GTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGT GGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGG ATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGT GGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGTGG GTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGGTG GGTGGGTGGAGGGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTGGA TGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATG GGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGA TAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGG AGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGGTAGGTGGGTGGGT GGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGG GTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGT GGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0053 a0053	a0053c0119 a0053c0119	a0053c0119t0001 a0053c0119t0001	a0053c0119t0001g0071 a0053c0119t0001g0071	1	186	0.0054	702	c.450 others(719): Show c.450+1785_450+1786insCCCACCTATCCATCCACCCACCCACCCA CCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACC CACCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCCTCCA CCCACCCACCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATCC CTCCACCCACCCACCCCCCCATCTATCCCTCCACCCACCCACCCACCTAT CCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCACCC ACCCATCTATCCCTCCACCCACCCATCCACCTATCCATCCACCCACCCAC CCACCTACCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCC ACCCACCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTATCCCTC CACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTA TCCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACCCACC CATCTATCCCTCCACCCACCCATCCACCCATCTATCCCTCCACCCACCCA CCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTC CACCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCC TCCACCCACCCATCCACCTATCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LMF1_chr16_848634_975984	858963	G G	GAGTGGTG others(695): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTC GGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGA TGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGG TGT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0013 a0003c0015t0001g0013	1	294	0.0034	702	c.153 others(721): Show c.1530-4258_1530-4257insACACCCATCCCGAGACACCACTCACA CCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACCC ATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCG AGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89341900	A A	ACCCACAG others(695): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTC CACCCACAGCGGCCACAGCCCACGGCAGGAGTGCTGCACCTCCACCCACA GCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGC CACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCC ACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGC GGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAG TGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGTGCTGCAC CTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCA CTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02559.hp2 others(5): Show HG01243.hp1 HG02258.hp1 HG02559.hp2 HG03041.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0020 a0001c0001t0000g0021 a0001c0001t0000g0022 others(5): Show a0001c0001t0000g0020 a0001c0001t0000g0021 a0001c0001t0000g0022 a0001c0001t0000g0024 a0001c0001t0000g0025 a0001c0001t0000g0302 a0001c0001t0000g0303 a0001c0001t0000g0320	8	366	0.0219	702	c.10- others(719): Show c.10-24826_10-24825insCAGTGGAGGTGCAGCACTCCCGCCGTGG GCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGT GGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTG TTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGC AGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGG TGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAG CACTCCCGCCGTGGGCCGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTG CCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGC CGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGG CCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCT GTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGG AGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGCAGTGGAG GTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCA CTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCC GCCGTGGGCCGTGGCCGCTGTGGG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(695): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	292	0.0034	702	c.377 others(719): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(695): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0209 a0001c0007t0001g0209	1	292	0.0034	702	c.377 others(719): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17877198	G G	GGGAGGTT others(695): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGG TTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGT TAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	274	0.0037	702	c.224 others(721): Show c.2242-5176_2242-5175insATAACTTCCCTAACCTCCCTAACCTC CATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCA TAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCC CTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877252	G G	GGGAGGTT others(695): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGT TATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGT TAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	274	0.0037	702	c.224 others(721): Show c.2242-5230_2242-5229insATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCC TCACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAATC TCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCT CCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATA ACTTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAATCTC CCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCC TAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(695): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAAGGG GCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGG AAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGG TGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGG GGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGG GAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAG TGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGG AGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGA GGGGAGTGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGG TGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	272	0.0037	702	c.250 others(717): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCT CACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCC GCCCCTTTTCCCCCCTTCCCCGCCCCTTTTTCCCCCTCCCCCCTGCCCCT CCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(695): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGG TGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02083.hp1 NA19005.hp2 others(1): Show HG00621.hp1 HG02083.hp1 NA19005.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0217 others(1): Show a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0217 a0002c0002t0002g0218	4	272	0.0147	702	c.250 others(717): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCT CCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCC TTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(695): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGT ATATATATTATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATAAAGTATATATATAATATATATAATATAT ATTATATATATAAAGTATATATATAATATATATTATATATAAAGTATATA TATAATATATATTATATATATATAAAATATATAATATATATTATATATAT AAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	308	0.0033	702	c.730 others(719): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATAATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATACTTTATATATATAATATATATTA TATATATTATATATATACTTTATATATATAATATATATTATATATATTAT ATATATACTTTATATATATAATATATATTATATATATTATATATATACTT TATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NXN_chr17_794310_984776	841393	C C	CGGCGAGC others(695): Show CGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGG AGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAG GTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCAT CTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCAC ACG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	242	0.0041	702	c.361 others(721): Show c.361-15316_361-15315insCGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACC TGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGAC CTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCGGG TGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCG CCGTGGTCAGGGGGGACCTGCTCGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(695): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATACATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATACATGTATATGCATGTGTGTATATATAC ATATACATGTATATGCATATGTGTGTATATATACATATACATGTATATGC ATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATAT ACACATATACATGTATATGCATATGTGTGTATACATATACATATATATGC ATATGTGTGTATACATATACATATATATGCATATATGTGTATATATACAC ATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATGT GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	456	0.0022	702	c.31 others(713): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATACATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATACATGTATATGCA TGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATACA TATACATGTATATGCATATGTGTGTATATATACATATACATGTATATGCA TATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATACA TATACATATATATGCATATGTGTGTATACATATACATATATATGCATATA TGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATA TATACACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(695): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0122 a0122	a0122c0148 a0122c0148	a0122c0148t0001 a0122c0148t0001	a0122c0148t0001g0029 a0122c0148t0001g0029	1	268	0.0037	702	c.292 others(717): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(695): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG02970.hp1 HG03139.hp1	a0004 a0081 a0004 a0081	a0004c0008 a0081c0125 a0004c0008 a0081c0125	a0004c0008t0001 a0081c0125t0002 a0004c0008t0001 a0081c0125t0002	a0004c0008t0001g0177 a0081c0125t0002g0176 a0004c0008t0001g0177 a0081c0125t0002g0176	2	268	0.0075	702	c.292 others(717): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(695): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGC ACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCT GCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	360	0.0028	702	c.35 others(713): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PIAS4_chr19_4002736_4044386	4012047	G G	GGGTGTGG others(695): Show GGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGG GTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG03942.hp1 others(2): Show HG01361.hp2 HG01496.hp1 HG03942.hp1 HG04184.hp1 NA20905.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0007 a0001c0005t0005 a0001c0005t0007	a0001c0005t0005g0239 a0001c0005t0005g0240 a0001c0005t0005g0242 others(2): Show a0001c0005t0005g0239 a0001c0005t0005g0240 a0001c0005t0005g0242 a0001c0005t0007g0238 a0001c0005t0007g0241	5	334	0.0150	702	c.28- others(715): Show c.28-861_28-860insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAG GGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGA GGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(695): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG GCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0284 a0001c0002t0016g0284	1	340	0.0029	702	c.227 others(719): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB11FIP3_chr16_420649_528011	458423	C C	CCACAGGG others(695): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACA GGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCAGATTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGAT GCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0269 a0001c0002t0009g0269	1	295	0.0034	702	c.715 others(719): Show c.715-2911_715-2910insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCAC AGGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTC ACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCA CAGGGCCTGGGGGGCCTTCCTCAGATTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458462	C C	CCACAGGG others(695): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC TGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0064 a0001c0001t0051g0064	1	295	0.0034	702	c.715 others(719): Show c.715-2904_715-2903insTCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAG ATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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