Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(410): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	320	0.0031	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGG CGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(410): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18942.hp1 HG01099.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0072 a0001c0001t0003g0079 a0001c0001t0002g0072 a0001c0001t0003g0079	2	320	0.0063	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCGTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGG CGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(410): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02257.hp2 HG02717.hp2 HG00733.hp1 HG02257.hp2 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0042 a0003c0003t0001g0040 a0003c0003t0001g0041 a0001c0001t0004g0042 a0003c0003t0001g0040 a0003c0003t0001g0041	3	320	0.0094	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTTCCAGCT GCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(410): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG03209.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG03209.hp2 NA18522.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0005 a0003c0003 a0006c0005	a0003c0003t0001 a0003c0003t0004 a0006c0005t0023 a0003c0003t0001 a0003c0003t0004 a0006c0005t0023	a0003c0003t0001g0033 a0003c0003t0004g0034 a0003c0003t0004g0035 others(1): Show a0003c0003t0001g0033 a0003c0003t0004g0034 a0003c0003t0004g0035 a0006c0005t0023g0043	4	320	0.0125	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCT GCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(410): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACT GGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTCCTAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCACGCCAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0193 a0004c0004t0003g0193	1	320	0.0031	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTCCTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(410): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACT GGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTCCTAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCACGCCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0192 a0004c0004t0003g0192	1	320	0.0031	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTCCTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(410): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTG GTGGCGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	320	0.0031	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGCGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCT GCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(410): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATG TTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02922.hp1 others(3): Show HG02630.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 NA18943.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0012t0002 a0001c0001t0001 a0001c0001t0004 a0001c0012t0002	a0001c0001t0001g0293 a0001c0001t0004g0016 a0001c0001t0004g0017 others(3): Show a0001c0001t0001g0293 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0012t0002g0278	6	320	0.0188	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(410): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATG TTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	320	0.0063	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(410): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATG TTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03491.hp1 NA19085.hp1 HG02886.hp2 HG03491.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0002g0172 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0002g0172	3	320	0.0094	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(410): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATG TTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0089 a0001c0001t0001g0090	2	320	0.0063	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(410): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATG TTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG03239.hp1 others(1): Show HG01261.hp2 HG01433.hp2 HG03239.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0022g0085	4	320	0.0125	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(410): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATG TTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCACGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0184 a0004c0004t0003g0185 a0004c0004t0003g0184 a0004c0004t0003g0185	2	320	0.0063	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCACGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(410): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATG TTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCACCCCTGCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18952.hp1 NA18954.hp2 others(3): Show NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp1 NA18993.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0001t0001 a0001c0001t0002 a0001c0009t0001	a0001c0001t0001g0312 a0001c0001t0002g0188 a0001c0001t0002g0189 others(3): Show a0001c0001t0001g0312 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0313 a0001c0009t0001g0191	6	320	0.0188	417	c.-52 others(434): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACAT CACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCACCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(410): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0003 a0002c0029t0003	a0002c0029t0003g0258 a0002c0029t0003g0258	1	344	0.0029	417	c.85- others(434): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924444	G G	GCCCCTCA others(410): Show GCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCAC ACTGACCCGGCCCCCACACTAATCCGGCCCCCACACTGACCCGGCCCCCA CACTGACCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCC CACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCTCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0003 a0009c0010t0003	a0009c0010t0003g0206 a0009c0010t0003g0206	1	350	0.0029	417	c.489 others(434): Show c.489-1276_489-1275insTCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAATCCGGCCCCCA CACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251141	A A	ACACACCC others(410): Show ACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCCCCACACC CCCCCACACCACACATCCCTCACACCCCCAAATCCCCCACACCCCCCACA TCTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCACACTCCCCAC ACCCCCCACACCCCCCACATCCCCACACCCCCCACACCCCCCACACCCCC ATACCCCCCACACCCCCAACACCCCCACACCCCCACACACCCCACACCCC CCACATCCCCACACACCACAAATCCTCCACACCCCCCACACCCCCCACAC CCCCATCTCCCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCAT ACCCCTCACATCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCC CCACACCACACATTCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0074 a0004c0005t0001g0074	1	116	0.0086	417	c.207 others(436): Show c.2073+1460_2073+1461insACCCCCCACACCACACATCCCTCACA CCCCCCAACACCCCCACACCCCCCCACACCACACATCCCTCACACCCCCA AATCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCCCACACCC CCATCCCCCACACTCCCCACACCCCCCACACCCCCCACATCCCCACACCC CCCACACCCCCCACACCCCCATACCCCCCACACCCCCAACACCCCCACAC CCCCACACACCCCACACCCCCCACATCCCCACACACCACAAATCCTCCAC ACCCCCCACACCCCCCACACCCCCATCTCCCCACACCCCCCACACCCCCC ACACCCCCCACATCCCCCATACCCCTCACATCCCCCACACCCCCCACACC CCCCACATCCCCCACACCCCCCACACCACACATTCCCTCAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DHRSX_chrX_2214506_2505976	2314352	G G	GCAGGGAG others(410): Show GCAGGGAGGGAAGGAGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGGA AGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAG GGAAAGGAGGGAGGGAGGGAGGGAAGCAGGGAAGGAGGGAGGCAGGGAGG GAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGA AAGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAAGGAGGGAGGGGAGGGA GGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGA AGGAGGGAGGGAGGGAAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAG GGAGGGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0048 a0004c0004t0001g0048	1	50	0.0200	417	c.287 others(436): Show c.287-22750_287-22749insTCTCCCTTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCCTCCTTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTC CCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTCCC CTCCCTCCTTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCTTTCCCTCCC TCCCTCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCCTCCCTG CCTCCCTCCTTCCCTGCTTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCC CTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCC TGCCTTCCTCCTTCCCTCCCTGCCTCCTCCTTCCCTCCCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DLGAP2_chr8_732628_1713476	1016720	C C	CTGTGTGT others(410): Show CTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGA CGGTGCCTCCACTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTC CACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCC ACTGTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAG GACAGACGGTGCCTCCAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	417	c.73+ others(436): Show c.73+108775_73+108776insGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGACA GACGGTGCCTCCACTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGT GTGTGACCAGGACAGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCC TCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCT CCACTGTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACC AGGACAGACGGTGCCTCCACTGTGTGTGACCAGGACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1164217	A A	ATTTTGGT others(410): Show ATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCGT TTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCCGTCATTTTGG TTTGTGGGGATTTTTCTGTGAGTCCCCCCAGGGCCCGTCATTTTGGTTTG TGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGA CAGATTTTTCTGTGAGTCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATT TTTCTGTGAGCCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTG TGAGCCCCCAGGGCCTAATGTTTTGGTTTGTGGGGACAGATTTTTCTGTG AGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGA GCCCCCCAGGGCCTGTCG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	417	c.74- others(434): Show c.74-94597_74-94596insAGGGCCCGTCGTTTTGGTTTGTGGGGAT TTTTCTGTGAGCCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTC TGTGAGTCCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTG AGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAG TCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCA GGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCT AATGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTG TCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGT CGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417647	A A	AGCCACAC others(410): Show AGCCACACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCCACGGGGAGCC CCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCCACGGGGAGCCCCAC TCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGCCCCACTCCT GCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGCC TCACTCCGCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCAC TCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGCCTCACTCC GCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCGA GGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCGGCGAGGCT CCAGGGGGGCACGGGGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	417	c.107 others(436): Show c.107-83716_107-83715insACACTCCTGCCTCACTCAGCGAGGCT CCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAG GGGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGG GCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCAC GGGGAGGCCTCACTCCTGCCTCACTCCGCGAGGCTCCAGGGGGCCACGGG GAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGG CCTCACTCCTGCCTCACTCCGCGAGGCTCCAGGGGGCCACGGGGAGCCCC ACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTC CTGCCTCACTCGGCGAGGCTCCAGGGGGGCACGGGGAGGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAC others(410): Show TCCACCACCTCCACCATCACCATCACCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCA CCACCACCTCCACCATCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0003 a0002c0077t0003	a0002c0077t0003g0018 a0002c0077t0003g0018	1	256	0.0039	417	c.323 others(434): Show c.3234+759_3234+760insTCACCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928191	G G	GTGGTGGT others(410): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0278 a0002c0001t0002g0278	1	288	0.0035	417	c.190 others(436): Show c.1909+7325_1909+7326insATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTREP2_chr15_29115252_29575979	29131600	T T	TCACACAC others(410): Show TCACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCC CATCACCTCCCCCTCCACACACACCAGCCCCCCACATCACCTCCCCCTCC TCCACACACACCAGCCGCCCAAATTGCCTCCCCCTTCACACACTCCATCC CCCCAAATCACCTCCCCTCGACACACCCCAGCCCCTCACATCACCTCCCC TCCACACACACCCCAGCCCCCCACATCACCTCCCCCTCCTCCACACACCC CAGCCCCCCACATCACCTCCCCCTCCTCCACACACACCCCAGGCCCCCCA CATCGCCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCA CACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCAGCCCCCCA CATCACCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02897.hp2 others(1): Show HG02280.hp2 HG02451.hp2 HG02897.hp2 HG03453.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0008 a0002c0005 a0010c0036 a0001c0008 a0002c0005 a0010c0036	a0001c0008t0007 a0002c0005t0005 a0010c0036t0041 a0001c0008t0007 a0002c0005t0005 a0010c0036t0041	a0001c0008t0007g0064 a0001c0008t0007g0106 a0002c0005t0005g0095 others(1): Show a0001c0008t0007g0064 a0001c0008t0007g0106 a0002c0005t0005g0095 a0010c0036t0041g0051	4	125	0.0320	417	c.928 others(434): Show c.928-2737_928-2736insGAGGAGGGGGAGGTGATGTGGGGGGCTG GTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGA GGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGGCCT GGGGTGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGG AGGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGTGGAGGGGAGGTGA TGTGAGGGGCTGGGGTGTGTCGAGGGGAGGTGATTTGGGGGGATGGAGTG TGTGAAGGGGGAGGCAATTTGGGCGGCTGGTGTGTGTGGAGGAGGGGGAG GTGATGTGGGGGGCTGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGG TGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29131600	T T	TCACACAC others(410): Show TCACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCC CATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCA CACACACCAGCCCCCCACATCACCTCCCCCTCCTCCACACACACCAGCCG CCCAAATTGCCTCCCCCTTCACACACTCCATCCCCCCAAATCACCTCCCC TCGACACACCCCAGCCCCTCACATCACCTCCCCTCCACACACACCCCAGC CCCCCACATCACCTCCCCCTCCTCCACACACCCCAGCCCCCCACATCACC TCCCCCTCCTCCACACACACCCCAGGCCCCCCACATCGCCTCCCCCTCCA CACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCAGCCCCCCA CATCACCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	125	0.0080	417	c.928 others(434): Show c.928-2737_928-2736insGAGGAGGGGGAGGTGATGTGGGGGGCTG GTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGA GGCGATGTGGGGGGCCTGGGGTGTGTGTGGAGGAGGGGGAGGTGATGTGG GGGGCTGGGGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGGGTGT GTGTGGAGGGGAGGTGATGTGAGGGGCTGGGGTGTGTCGAGGGGAGGTGA TTTGGGGGGATGGAGTGTGTGAAGGGGGAGGCAATTTGGGCGGCTGGTGT GTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGTGTGTGTGGAGGGGGA GGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGG TGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGAGACGG others(410): Show GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGA CGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGA GGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	370	0.0027	417	c.39 others(428): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCT CTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCC GTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(410): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCC TCCAGCCTACCCCTCCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCA GCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTAT CCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGC CCACCCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	406	0.0025	417	c.33 others(428): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACC CCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACCCCCTCCT CCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCG CCCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCC TACCCCTCCCCCCGCCCACCCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(410): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	417	c.31 others(428): Show c.3138_*3139insGGGGGGGGGAGGGGAGGGGCGGGGCGGCACGGGG CCAGGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAG CCACACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCA GCACGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGG GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(410): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCGTGCTGCCCGTGTGGCT GCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCC CGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCC CGCCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	422	0.0024	417	c.31 others(428): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(410): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTG CCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCC GTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA18980.hp1 HG03579.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	422	0.0047	417	c.31 others(428): Show c.3138_*3139insGGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCC AGGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCC ACACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGC ACGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(410): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCT CCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCC TCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCC CTCCCCTCCTTCCCCTTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	290	0.0035	417	c.972 others(432): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(410): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCT CCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCC TCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCC CTCCCCTCCTTCCCCTTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	290	0.0035	417	c.972 others(432): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(410): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTCCCC TCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGC CTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCC CCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCC TCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTC CCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCT CCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCC TCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	290	0.0035	417	c.972 others(432): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCC CCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(410): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCT CCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0029 a0001c0001t0008g0029	1	290	0.0035	417	c.972 others(432): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC5_chr13_91393621_92872237	92347920	T T	TTATATAT others(410): Show TTATATATATAATATATATAATATATTATATATATTATATATATTATATA TACTATATATATATTATATATATTATATATATTATATATACTATATATAT ATTATATATAATATATATATTATATATAATATATATAATATATATATTAT ATATTATATATATAATATATAATATATATATTATATATAATATATATATA GTATATAATATATATATTATATATATTATATATATTATATATAATATATA TAATATATATATAGTATATATAATATATATATTATATATAATATATATTA TATATAATATATATATTATATATAATATATATATTATATATAATATATAT TATATATAATATATATATAATATATATATTATATATAATATATATATAAT ATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	42	0.0238	417	c.156 others(440): Show c.1561+202931_1561+202932insTATATATATAATATATATAATA TATTATATATATTATATATATTATATATACTATATATATATTATATATAT TATATATATTATATATACTATATATATATTATATATAATATATATATTAT ATATAATATATATAATATATATATTATATATTATATATATAATATATAAT ATATATATTATATATAATATATATATAGTATATAATATATATATTATATA TATTATATATATTATATATAATATATATAATATATATATAGTATATATAA TATATATATTATATATAATATATATTATATATAATATATATATTATATAT AATATATATATTATATATAATATATATTATATATAATATATATATAATAT ATATATTATATATAATATATATATAATATATATATTATATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
HIVEP3_chr1_41501365_41923922	41544831	T T	TCATCACC others(410): Show TCATCACCACCACTACCACCTCTACCACCACCATCACCACCACCACCACC ATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCTAC CACCACCACCACCACCACCACTACCACCTCTACCACCACCACCACCACCA CCACTACCACCTCTACCACCTCTACCACCACCACCACCATCACCTCTACC ACCACCATCACCACCACCATCACCACCACCTCTACCACCACCATCACCAC CACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACCATCA CCTCTACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACC ATCACCACCTCTACCACCACTGCTACCATCACCACCACCACCACTACCAC CTGTACCACCACTGCTAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0010 a0001c0001t0012g0010	1	134	0.0075	417	c.520 others(438): Show c.5208-19922_5208-19921insGTAGCAGTGGTGGTACAGGTGGTA GTGGTGGTGGTGGTGATGGTAGCAGTGGTGGTAGAGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTAGAGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTAGA GGTGATGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGG TGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGATG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544944	A A	ACCATCAC others(410): Show ACCATCACCACCATCATCACCACCACCACTACCACCTCTACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACTACCACCTCTA CCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCATCACC ACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCAT CACCTCTACCACCACCATCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCACTATC ACCACCTCTACCACCACCATCACCACCACCACCACCACCTCTACCACCAC CATCACCACCACCACCACCACCACCTCTACCACCACCATCACTACTACCA CCACCACCATCACCACCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0127 a0002c0002t0008g0127	1	134	0.0075	417	c.520 others(438): Show c.5208-20035_5208-20034insAGGTGGTGATGGTGGTGGTGGTAG TAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGT GGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGG TGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGATGG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HLA-DQA1_chr6_32632406_32648684	32645667	T T	TGATAGAC others(410): Show TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAA GCTAGAAACCATCATTCTCAGCAAACTATGGCAAGGACAGAAAACCAAAC ACCGCATGTTCTCACTCGTAGATGGGAATTGAACAATGAGAACACATGGA CACAGGAAGGGGAACATCACACACCGGGGACTGTTGTGGGGTTGGGGGAG GGGGGAGAGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAA TGGGTGCAGCACACCAACGTGGCACATATATACATATGTAACAAACCTGC ACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAA AAAATAAATAAAAATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0025 a0006c0007t0005g0025	1	86	0.0116	417	c.27 others(428): Show c.2736_*2737insGATAGACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGT AGGGACATGGATGAAGCTAGAAACCATCATTCTCAGCAAACTATGGCAAG GACAGAAAACCAAACACCGCATGTTCTCACTCGTAGATGGGAATTGAACA ATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTT GTGGGGTTGGGGGAGGGGGGAGAGATAGCATTAGGAGATATACCTAATGC TAAATGACGAGTTAATGGGTGCAGCACACCAACGTGGCACATATATACAT ATGTAACAAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTATA ATAATAATAAAATAAAAAATAAATAAAAATAAA	HLA-DQA1	ENSG00000196735.13	transcript	ENST00000343139.11	protein_coding		1984		chr6	TogoVar
HPCAL1_chr2_10297904_10432604	10399229	C C	CCGCCGCT others(410): Show CCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCGCCACCGCCACCACCACCACCATCACCGCCACCACCA TCACCATCACCGCCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	314	0.0032	417	c.-25 others(434): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCGCCACCGCCACCACCAC CACCATCACCGCCACCACCATCACCATCACCGCCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCATC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(410): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGC TCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCC CCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCC TCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(60): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp1 NA18522.hp2 NA18944.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18982.hp1 NA19005.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp1 NA19084.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0016 a0001c0024 a0002c0002 a0002c0009 a0002c0010 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0061 a0001c0001t0069 a0001c0001t0077 a0001c0001t0093 a0001c0001t0098 a0001c0003t0001 a0001c0003t0002 a0001c0003t0026 a0001c0003t0083 a0001c0004t0019 a0001c0004t0035 a0001c0006t0022 a0001c0007t0024 a0001c0007t0028 a0001c0007t0076 a0001c0007t0079 a0001c0007t0108 a0001c0016t0089 a0001c0024t0007 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0009t0058 a0002c0010t0014 a0002c0010t0070 a0003c0008t0023 a0003c0008t0034 a0003c0008t0112	a0001c0001t0001g0002 a0001c0001t0001g0241 a0001c0001t0001g0249 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0060 a0001c0001t0007g0307 a0001c0001t0007g0325 a0001c0001t0009g0119 a0001c0001t0030g0247 a0001c0001t0036g0120 a0001c0001t0037g0276 a0001c0001t0061g0104 a0001c0001t0069g0142 a0001c0001t0077g0184 a0001c0001t0093g0277 a0001c0001t0098g0266 a0001c0003t0001g0208 a0001c0003t0001g0221 a0001c0003t0002g0022 a0001c0003t0026g0189 a0001c0003t0026g0191 a0001c0003t0026g0192 a0001c0003t0083g0190 a0001c0004t0019g0177 a0001c0004t0035g0034 a0001c0006t0022g0037 a0001c0006t0022g0038 a0001c0007t0024g0087 a0001c0007t0028g0238 a0001c0007t0076g0152 a0001c0007t0079g0183 a0001c0007t0108g0304 a0001c0016t0089g0213 a0001c0024t0007g0308 a0002c0002t0003g0001 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0082 a0002c0002t0004g0264 a0002c0002t0004g0271 a0002c0002t0006g0188 a0002c0009t0058g0098 a0002c0010t0014g0224 a0002c0010t0070g0187 a0003c0008t0023g0036 a0003c0008t0034g0334 a0003c0008t0034g0335 a0003c0008t0112g0333	63	338	0.1864	417	c.117 others(438): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGG GGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGG GTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATT others(410): Show TATAAATTATACATATATAAATATATGAATATATAAAATATATAAATATA TAAATATATAAATATATATAAATAAATATTACATATATACAATATAATAT AAATAAATATATAAAATATAAATAATATATTTATAGATATATAGATTTTA CGTTTAAATATATATTTTATAGATTTTATATTTAAAATATATATTTATAG ATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATATAATA TATAAAATATAAATCATATAAAATTTATATTTTATGTATAAATATAAATG AATATAAAAATATATTATATGTTATATATTATATATTATTATGTTAATAT ATTATATTATTATATTATATATATTATAATATGTATTATATTATATATTA TATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	389	0.0026	417	c.-51 others(428): Show c.-5160_-5159insATAAATTATACATATATAAATATATGAATATATA AAATATATAAATATATAAATATATAAATATATATAAATAAATATTACATA TATACAATATAATATAAATAAATATATAAAATATAAATAATATATTTATA GATATATAGATTTTACGTTTAAATATATATTTTATAGATTTTATATTTAA AATATATATTTATAGATTTTATATTTAAAAATATATTTTATATATTTTAT ACATAAAATATAATATATAAAATATAAATCATATAAAATTTATATTTTAT GTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTATATA TTATTATGTTAATATATTATATTATTATATTATATATATTATAATATGTA TTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(410): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATATTCTATATATATAATATATATTATA TATATAATTCTATATATATAATATATATTATATATATAATTCTATATATA TAATATATATTATATATATAATTCTATATATATAATATATATTATATATA TAATTCTATATATATAATATATATTATATATATAATTCTATATATATAAT ATATATTATATATATAATTCTATATATATAATATATATTATATATATAAT TCTATATATATAATATATATTATATATATAATTCTATATATATAATATAT ATTATATATATAATTCTATATATATAATATATATTATATATATAATTCTA TATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0070 a0001c0001t0005g0034 a0001c0001t0001g0070 a0001c0001t0005g0034	2	80	0.0250	417	c.62- others(436): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATA GAATTATATATATAATATATATTATATATATAGAATTATATATATAATAT ATATTATATATATAGAATATATATATAATATATATTATATATATAGAATT ATATATATAATATATATTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(410): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATACTGTATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATACTATATATAAAATATATACTATATATAAAATATATATTATATATAAA ATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	260	0.0039	417	c.963 others(436): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ACTGTATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATACTATATATAAAATATATACTATATATAAA ATATATATTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(410): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATATTATATATAAAATATATATTATATA TTATATAAAATATATATTATATATTATATAATATATAATATATATTATAT ATATTATATATTATATATTAAATATATATTATATATATAAAATATATATA AAATATATATTATATAAAATATATATAAAATATATATTATATAAAATATA TATAAAATATATATTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATACTATATATAAAATATATATTATATATAAA ATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0010 a0001c0003t0010g0010	1	260	0.0039	417	c.963 others(436): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATATTATATA TAAAATATATATTATATATTATATAAAATATATATTATATATTATATAAT ATATAATATATATTATATATATTATATATTATATATTAAATATATATTAT ATATATAAAATATATATAAAATATATATTATATAAAATATATATAAAATA TATATTATATAAAATATATATAAAATATATATTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATACTATATATAAAATATATACTATATATAAA ATATATATTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442656	C C	CCATCACC others(410): Show CCATCACCACCACCACCATCACCATCACCACCACCACCACCACCATCACC ACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCATCAC CACCATCACCATCATCACCATCACCATTACCACCACCATTACCACCACCA TCACCATCACCATCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCATCACCACCATCACCACCACCACCACCA TCACCACCATCACCATCACCACCATCACCATCACCACCATCACCATTACC ACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCACCAT CACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00639.hp1 others(15): Show HG00280.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp2 HG02004.hp2 HG02735.hp2 HG03098.hp1 HG03239.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18747.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0022 a0002c0001t0002 a0002c0001t0006 others(5): Show a0001c0002t0022 a0002c0001t0002 a0002c0001t0006 a0002c0001t0008 a0002c0001t0040 a0002c0001t0042 a0002c0001t0062 a0002c0001t0077	a0001c0002t0022g0002 a0002c0001t0002g0061 a0002c0001t0002g0062 others(14): Show a0001c0002t0022g0002 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0006g0038 a0002c0001t0006g0063 a0002c0001t0006g0077 a0002c0001t0006g0079 a0002c0001t0006g0083 a0002c0001t0008g0064 a0002c0001t0008g0070 a0002c0001t0008g0072 a0002c0001t0008g0076 a0002c0001t0008g0081 a0002c0001t0040g0007 a0002c0001t0042g0008 a0002c0001t0062g0071 a0002c0001t0077g0073	18	330	0.0546	417	c.691 others(432): Show c.691-126_691-125insATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGAT GGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAA TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(410): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCACCATCACCACCACCACCACCACCATCACCA CCATCACCACCATCACCACCACCACCACCATCACCACCATCACCATCACC ACCATCACCATCACCACCATCACCATTACCACCACCATTACCACCACCAT CACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCATCA CCATTATCACCACCACCATCACCACCATCACCACCACCACCATCACCATC ACCACCACCATCACCATTATCACCACCACCATCACCACCATCACCATCAC CACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG02976.hp1 others(2): Show HG01891.hp1 HG02886.hp1 HG02976.hp1 HG03516.hp1 HG03540.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0025 a0001c0004 a0006c0025	a0001c0004t0004 a0006c0025t0086 a0001c0004t0004 a0006c0025t0086	a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0200 others(2): Show a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0200 a0001c0004t0004g0202 a0006c0025t0086g0201	5	330	0.0152	417	c.691 others(432): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(410): Show GATATTATCTATGTTATAGATATAGATATTATTATCTATATCTATAATAT AGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATA ATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATC TATAATATAGATAATATTATCTATATCTATAATATAGATATTATCTATAT CTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCT ATATCTATAATATAGATATTATCTATATCTATAATATAGATAATATTATC TATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATAT TATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATA ATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0004 a0004c0022t0004	a0004c0022t0004g0404 a0004c0022t0004g0404	1	414	0.0024	417	c.480 others(432): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATCTATATTATAGATATAGATAATATTAT CTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATA TCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAAT ATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGA TAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATA TAGATAATAATATCTATATCTATAACATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(410): Show GGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTT CACCTCAAGGATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATC CACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCA CCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGC CTTCACCTCAAGATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGG ATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACC TCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGC CTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGG GATCCGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0040 a0001c0005t0004g0040	1	330	0.0030	417	c.-61 others(434): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCC GAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCG GATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTG AAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAG AGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGG TGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATC CTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KLHDC4_chr16_87702812_87770986	87739557	C C	CCATCCAC others(410): Show CCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGC ATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCC ATCCACACACCAGCATCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	380	0.0026	417	c.507 others(434): Show c.507-8914_507-8913insAGATGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGA TGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(410): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAAGAGGAGGAGGAA GAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02451.hp2 HG02809.hp1 others(6): Show HG01346.hp2 HG02451.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02970.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0010 a0001c0001 a0002c0003 a0008c0010	a0001c0001t0001 a0002c0003t0001 a0008c0010t0001 a0001c0001t0001 a0002c0003t0001 a0008c0010t0001	a0001c0001t0001g0100 a0001c0001t0001g0251 a0002c0003t0001g0033 others(6): Show a0001c0001t0001g0100 a0001c0001t0001g0251 a0002c0003t0001g0033 a0002c0003t0001g0082 a0002c0003t0001g0170 a0002c0003t0001g0237 a0002c0003t0001g0247 a0002c0003t0001g0248 a0008c0010t0001g0025	9	316	0.0285	417	c.583 others(432): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCTCC TCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCTTAT TCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCCAC TGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCCTC CTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCCAC TCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCCTC CCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTCCTC CTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar

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Search Results (Total: 10000 hits)