JoGo: Joint Open Genome and Omics Platform

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
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(804): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGAGTCGGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAG GGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04204.hp2 HG03654.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0273 a0001c0001t0002g0274	2	334	0.0060	811	c.369 others(828): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACTCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGA GGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(804): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAG GGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00609.hp1 others(28): Show HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00673.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp2 HG02165.hp1 HG02257.hp1 HG02602.hp1 HG02683.hp1 HG02886.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03704.hp1 HG04228.hp1 NA18945.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA19005.hp2 NA19007.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0048 a0001c0001 a0001c0010 a0001c0048	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0010t0002 a0001c0048t0002	a0001c0001t0002g0046 a0001c0001t0002g0243 a0001c0001t0002g0252 others(28): Show a0001c0001t0002g0046 a0001c0001t0002g0243 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0329 a0001c0001t0004g0277 a0001c0001t0007g0270 a0001c0001t0007g0275 a0001c0010t0002g0321 a0001c0048t0002g0265	31	334	0.0928	811	c.369 others(828): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGA GGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(804): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGCCA GCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAG GGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	334	0.0030	811	c.369 others(828): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGA GGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(804): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAG GGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	334	0.0030	811	c.369 others(828): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCAACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGA GGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(804): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAG GGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0167 a0005c0009t0004g0167	1	334	0.0030	811	c.369 others(828): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCAGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGA GGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(804): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAG GGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	334	0.0030	811	c.369 others(828): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGCGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGA GGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
INO80_chr15_40973880_41121280	41031630	A A	AAGGGAGG others(804): Show AAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAG GGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	282	0.0036	811	c.290 others(830): Show c.2908-3895_2908-3894insCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(804): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	308	0.0033	811	c.127 others(830): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(804): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCCTCTCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCTC CCCCCTCCTCTCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCC TCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCTCCCCCCTC CCCCCCCCTCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCTCCCCCCTCCC CCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTG TCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCC CACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCC CCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	252	0.0040	811	c.10- others(828): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCCTCTCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCC CTCCTCCCCCCCTCCCCCCTCCTCTCCCTCCTCCCCCCCCTCCCCCCTCC TCCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCT CCTCCTCCCCCCTCCCCCCCCCTCCCCCTCCTCCTCCCCCCTCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCC CTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(804): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTGGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGTGATGACGGTGATGATGGGGGTGGGGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGATGGTGGGGGTGGGGGGGGTGATGATGGTGAGGGTGAT GATGGTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG GGGTGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG ATGGCGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGATGAT GGCGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACAGTGATGGCGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GATGGTAGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGG TGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATG ATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGATGACGGTGGGAGTGGGGG TGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0048 a0003c0002t0001g0048	1	186	0.0054	811	c.956 others(828): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACTCCCACCGT CATCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCC ACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCACCCCCACCCC CACCCCCACCCCCACCATCATCACCCCTACCATCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACTGTCAT CACCCCCACCGCCATCACCGTCATCACCCCCGCCATCATCGTCATCACCC CCACCGCCATCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCA TCACCCCCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACC CCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCCCCACCCCCATCA TCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCCACCG TCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACC CCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124507010	T T	TGTAGGGG others(804): Show TGTAGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG CAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGG GAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGG GGGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGA GGATTTCAGGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	260	0.0039	811	c.624 others(828): Show c.624+8882_624+8883insGTAGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGG GTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGG ATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGATAGGGAGTAT TTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364837	C C	CCCACACT others(804): Show CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CGCCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACGCCCACACTCACACCCACCCACACTCACACCCACGCTTACATCTACC TCCACACCCACACTTAACACCCACGCTTACATCTACCTGCACACCCACAC TTACACCCACGCTTACATCTACCTGCACACCCACACTTACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACGC TTACATCTACCTCCACACCCACACTTAACACCCACGCTTACATCTACCTG CACACCCACACTCACACCCACGCTTACATCTACCTGCACACCCACACTTA CACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACT CACACCCACGCTTACATCTACCTCCACACCCACACTTAACACCCACGCTT ACATCTACCTGCACACCCACACTTACACCCACGCTTACATCTACCTGCAC ACCCACACTCACACCCACGCTTACATCTACCTCCACACCCACACTTAACA CCCACGCTTACATCTACCTGCACACCCACACTTACACCCACACTTACATC TACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCA CACTTAACACCCACGCTTACATCTACCTGCACACCCACGCTTACACCCAC GTCCACACCGTGGGGCCCCACACTCATGCAGTCCGCGTCCACGCTTACAC CTACCTCCACGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0083 a0003c0008t0007g0083	1	290	0.0035	811	c.129 others(828): Show c.1290-581_1290-580insTCACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTCACACCC ACGCTTACATCTACCTCCACACCCACACTTAACACCCACGCTTACATCTA CCTGCACACCCACACTTACACCCACGCTTACATCTACCTGCACACCCACA CTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACGCTTACATCTACCTCCACACCCACACTTAACACCCAC GCTTACATCTACCTGCACACCCACACTCACACCCACGCTTACATCTACCT GCACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCACAC TTAACACCCACGCTTACATCTACCTGCACACCCACACTTACACCCACGCT TACATCTACCTGCACACCCACACTCACACCCACGCTTACATCTACCTCCA CACCCACACTTAACACCCACGCTTACATCTACCTGCACACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTCACACCCACGCTTACAT CTACCTCCACACCCACACTTAACACCCACGCTTACATCTACCTGCACACC CACGCTTACACCCACGTCCACACCGTGGGGCCCCACACTCATGCAGTCCG CGTCCACGCTTACACCTACCTCCACGTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(804): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCATCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTC CCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTC CCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	140	0.0071	811	c.114 others(830): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCAT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCC ATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(804): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGG GGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGA GGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAG GAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGG GAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAA GGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAA GGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0178 a0001c0004t0001g0178	1	208	0.0048	811	c.279 others(826): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCC CCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCC CCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTC CCCTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCC TCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(804): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC ATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTAA TACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	400	0.0025	811	c.70 others(822): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTAATACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAACATGTATTACATATATGTAATACATATATAACATGT ATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PLEKHA4_chr19_48832097_48873617	48835074	T T	TGCTGGGA others(804): Show TGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCC GAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGG CTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA GCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCTTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0020 a0003c0003t0020	a0003c0003t0020g0259 a0003c0003t0020g0259	1	300	0.0033	811	c.22 others(822): Show c.2214_*2215insCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCC TCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAG TCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAAGCCCCCAGC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCC TTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG CTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTA CTTCCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTT CCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGG AGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCC AGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGGCTCCCAGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2022		chr19	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(804): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCACCCTCCACACACACCACCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACA CACACCATCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACCCTCCACACACACCACGCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCC TCCACACACCGCCCTCCACACACACCACCCTCCACACACCGCCCTCCACA CACACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACA CACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG04199.hp1 others(1): Show HG02109.hp2 HG02896.hp1 HG04199.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0006t0003	a0001c0001t0002g0154 a0001c0001t0005g0209 a0001c0001t0018g0007 others(1): Show a0001c0001t0002g0154 a0001c0001t0005g0209 a0001c0001t0018g0007 a0001c0006t0003g0011	4	252	0.0159	811	c.114 others(830): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGT GGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAG GGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(804): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACA CACACCATCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACCCTCCACACACACCACGCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCC TCCACACACCGCCCTCCACACACACCACCCTCCACACACCGCCCTCCACA CACACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACA CACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 NA21309.hp1 HG00639.hp1 HG01081.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0110 a0001c0001t0003g0178 a0001c0001t0004g0212 a0001c0001t0002g0110 a0001c0001t0003g0178 a0001c0001t0004g0212	3	252	0.0119	811	c.114 others(830): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGT GGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAG GGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(804): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACA CACACCATCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACCCTCCACACACACCACGCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACC ACCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCC TCCACACACCGCCCTCCACACACACCACCCTCCACACACCGCCCTCCACA CACACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACA CACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01496.hp2 others(1): Show HG00140.hp1 HG00140.hp2 HG01496.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0002g0192 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0002g0192 a0001c0001t0006g0174	4	252	0.0159	811	c.114 others(830): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGT GGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAG GGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(804): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCATCCTCCACACACACCGCCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACA CACACCATCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACCCTCCACACACACCACGCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCC TCCACACACCGCCCTCCACACACACCACCCTCCACACACCGCCCTCCACA CACACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACA CACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	252	0.0040	811	c.114 others(830): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTG TGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGT GGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAG GGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(804): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACTGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACA CACACCATCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACCCTCCACACACACCACGCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCC TCCACACACCGCCCTCCACACACACCACCCTCCACACACCGCCCTCCACA CACACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACA CACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 NA21309.hp2 HG02970.hp1 HG03139.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0007 a0001c0001t0006 a0001c0002t0007	a0001c0001t0006g0152 a0001c0002t0007g0153 a0001c0002t0007g0179 a0001c0001t0006g0152 a0001c0002t0007g0153 a0001c0002t0007g0179	3	252	0.0119	811	c.114 others(830): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGT GGAGGGCAGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAG GGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
RAB11FIP3_chr16_420649_528011	492428	C C	CGGGAGAC others(804): Show CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG TCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGA GACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	295	0.0034	811	c.126 others(830): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAG GCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(804): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	330	0.0030	811	c.-51 others(822): Show c.-5117_-5116insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(804): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	330	0.0030	811	c.-50 others(822): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCTCTCAC others(804): Show CCTCTCACCTACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCGCTCCACCTATTTACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAACCCATCCACCTTC CCCTCTATCTATTCAACTATTCAACCACCCACCCACCCACCCACCATCCA TCCACCTTCCACTCCACCTATTCACCCATCCACCCACCCACCCATCTACC TTTCTCTCCACCTATTCACCCATCCACCCACCCACCCATCTACCTTCCTC TCCATCTATTCAACTATCCACCCACCCACCCACCTATCCACTTTCCCCTC CATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0011 a0001c0004t0050g0011	1	370	0.0027	811	c.438 others(828): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGTGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTAAATAGGTGGAGCGGAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGGAAGGTGGATGGGTGGGTAGGTGAGAG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RBM43_chr2_151242940_151266863	151252893	T T	TGATACAC others(804): Show TGATACACTAATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCC CACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCT CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTT GTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTC CCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCAT GGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATT TGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATA CGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATAT ACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCC TGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCC CACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCT GTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGAT ATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAG CATTTCTTCATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0108 a0001c0001t0017g0108	1	420	0.0024	811	c.215 others(824): Show c.215-39_215-38insCATGAAGAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGG AGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAA ATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGAC TGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAA CCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATA TTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA GGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGG GATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCA GCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTG CACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATTATTAGTGTATC	RBM43	ENSG00000184898.7	transcript	ENST00000331426.6	protein_coding	2/3			chr2	TogoVar
ROBO2_chr3_77035099_77654964	77322971	T T	TTATATTA others(804): Show TTATATTATATTATGGATAATATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATCTAATATATTATATTATATTA TGGATAATCTAATATATTATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATAATATAT TATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAA TATAATATATTATATAATATATTATATTATGGATAATATAATATATTATA TAATATATTATATTATGGATAATATAATATATTATATATTATATTATATT ATGGATAATATAATATATTATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0005 a0005c0013t0005	a0005c0013t0005g0106 a0005c0013t0005g0106	1	160	0.0063	811	c.389 others(832): Show c.389-154415_389-154414insATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATAATATATTAT ATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATAT AATATATTATATAATATATTATATTATGGATAATATAATATATTATATAA TATATTATATTATGGATAATATAATATATTATATATTATATTATATTATG GATAATATAATATATTATATATTATATTATATTATGGATAATATAATATA TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATAATATATTATATTATGGATAATATAATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77323000	T T	TTATATTA others(804): Show TTATATTATATTATGGATAATATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATCTAATATATTATATTATATTA TGGATAATCTAATATATTATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATAATATAT TATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAA TATAATATATTATATAATATATTATATTATGGATAATATAATATATTATA TAATATATTATATTATGGATAATATAATATATTATATATTATATTATATT ATGGATAATATAATATATTATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG02486.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0019 a0001c0001t0005 a0001c0003t0019	a0001c0001t0005g0051 a0001c0003t0019g0111 a0001c0001t0005g0051 a0001c0003t0019g0111	2	160	0.0125	811	c.389 others(832): Show c.389-154386_389-154385insATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATAATATATTAT ATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATAT AATATATTATATAATATATTATATTATGGATAATATAATATATTATATAA TATATTATATTATGGATAATATAATATATTATATATTATATTATATTATG GATAATATAATATATTATATATTATATTATATTATGGATAATATAATATA TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATAATATATTATATTATGGATAATATAATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SART1_chr11_65956734_65985137	65971205	T T	TGAGCTGA others(804): Show TGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0112 a0002c0001t0001g0112	1	384	0.0026	811	c.157 others(830): Show c.1572+3390_1572+3391insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(804): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTC CCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAG AAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTG GGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAG AGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAG GAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGA AGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG03471.hp1 HG02280.hp2 HG02922.hp2 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0016 a0006c0029 a0001c0004 a0001c0016 a0006c0029	a0001c0004t0001 a0001c0016t0005 a0006c0029t0005 a0001c0004t0001 a0001c0016t0005 a0006c0029t0005	a0001c0004t0001g0159 a0001c0016t0005g0030 a0006c0029t0005g0033 a0001c0004t0001g0159 a0001c0016t0005g0030 a0006c0029t0005g0033	3	203	0.0148	811	c.-12 others(830): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCC TGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGC ACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCT CCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGT GTCCTAGCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCT TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(804): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGA GGGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGA GGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCAGGGAGACAGG GAGGCAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGG GAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGA GGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGA GGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGA GGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0001 a0002c0060t0001	a0002c0060t0001g0057 a0002c0060t0001g0057	1	132	0.0076	811	c.227 others(830): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTGCCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCT TGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTC CTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCC TCCCTGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(804): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGAGGGAGG CAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGG GAGGCAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGG GAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGA GGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGA GGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGA GGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0062 a0001c0017t0001g0062	1	132	0.0076	811	c.227 others(830): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCT TGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTC CTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCC TCCCTGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(804): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCA GTGGGCCGGCCACACCTCCAGCTGTGACGGGCACCCACCACCACCAACCC AGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAC CAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGGAC CACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACT CAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	811	c.-11 others(822): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGT GCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTG GGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTG GTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG TTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACT GGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGG CCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTGT GGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(804): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA GGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0308 a0001c0001t0095g0308	1	322	0.0031	811	c.597 others(828): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCTTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMEM242_chr6_157284025_157328519	157312850	G G	GGCCTCAT others(804): Show GGCCTCATCATAGTTTCCCAGTGTCCGGTCACCTAGCCTGATCATAGTGC CCCACGATCAGCTCACTTAGCCTCATCATAGTGCCCCAGTATCCGCTCAC CTAAACTCATCATAGTGTCCCAGTGTGCACTAAGCTGGCCTCATCATAGT GCCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGCCCTAGTGTGCGATC AGATAGCCTCATCATAGTACCCCAGTGGCCGCTCACCAATCCTCATCATA GTGCGCCAGTGTGCACTCAACTAGCCTCATCATACTGTCCCAGTTTGCGC TCACCTAGCCTCATCATAGTGCCGCAGTGTGAACTCAACTAGCATCACAG TGCCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTGAGCT CACCTGGCCTCATCATAGTGCCCCAGTGTGCACTCACCGAGCCTCATCAT AGTGCCCCAGTGACCGCTCACGTAGCCTCGTCATAGTACCCCAGTGTGCA CTCACTTAGCCTCGTCATAGTGCGCCACTGTGCGTTCACCTGGCCTCACA ATAGTGCCCCAGTGGGCGCTCACCTGGTCTCATCATAGTGCCCCAGTGTG CGCTGACTTAGCCTCTTCATAGTGTCCCAGTGTGCACTCACCTAGCCTCA TCATAGTGTCCATGTGTGCGCTCAGCCAGGCTCATCATAGTGTCCCAGTG TGCACTCACCTAGCCTCATCAGAGTCCCAGGGTGCGCTCACCTAGCCTCA TCATAGTATCCCAGTGTGCGCTCACACGGCCTCATCATAGTGTCCCAGTG TGCGCTCACCTA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	344	0.0029	811	c.327 others(828): Show c.327+5931_327+5932insTAGGTGAGCGCACACTGGGACACTATGA TGAGGCCGTGTGAGCGCACACTGGGATACTATGATGAGGCTAGGTGAGCG CACCCTGGGACTCTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGA TGAGCCTGGCTGAGCGCACACATGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGACACTATGAAGAGGCTAAGTCAGCGCACACTGGGGCACTAT GATGAGACCAGGTGAGCGCCCACTGGGGCACTATTGTGAGGCCAGGTGAA CGCACAGTGGCGCACTATGACGAGGCTAAGTGAGTGCACACTGGGGTACT ATGACGAGGCTACGTGAGCGGTCACTGGGGCACTATGATGAGGCTCGGTG AGTGCACACTGGGGCACTATGATGAGGCCAGGTGAGCTCACACTGGGACA CTATGATGAGGCCAGGTGAGTGCACACTGGGGCACTGTGATGCTAGTTGA GTTCACACTGCGGCACTATGATGAGGCTAGGTGAGCGCAAACTGGGACAG TATGATGAGGCTAGTTGAGTGCACACTGGCGCACTATGATGAGGATTGGT GAGCGGCCACTGGGGTACTATGATGAGGCTATCTGATCGCACACTAGGGC ACTATGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAGGCCAG CTTAGTGCACACTGGGACACTATGATGAGTTTAGGTGAGCGGATACTGGG GCACTATGATGAGGCTAAGTGAGCTGATCGTGGGGCACTATGATCAGGCT AGGTGACCGGACACTGGGAAACTATGATGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312850	G G	GGCCTCAT others(804): Show GGCCTCATCATAGTTTCCCAGTGTCCGGTCACCTAGCCTGATCATAGTGC CCCACGATCAGCTCACTTAGCCTCATCATAGTGCCCCAGTATCCGCTCAC CTAAACTCATCATAGTGTCCCAGTGTGCACTAAGCTGGCCTCATCATAGT GCCCCAGTGTGTGCTCACCTAGCCTCATCATAGTGCCCTAGTGTGCGATC AGATAGCCTCATCATAGTACCCCAGTGGCCGCTCATCAATCCTCATCATA GTGCGCCAGTGTGCACTCAACTAGCCTCATCATAGTGCCCCAGTGTGCGC TCACCTAGCCTCATCATACTGTCCCAGTTTGCGCTCACCTAGCCTCATCA TAGTGCCGCAGTGTGAACTCAACTAGCATCACAGTGCCCCAGTGTGCACT CACCTGGCCTCATCATAGTGTCCCAGTGTGAGCTCACCTGGCCTCATCAT AGTGCCCCAGTGACCGCTCACGTAGCCTCGTCATAGTACCCCAGTGTGCA CTCACTTAGCCTCGTCATAGTGCGCCACTGTGCGTTCACCTGGCCTCACA ATAGTGCCCCAGTGGGCGCTCACCTGGTCTCATCATAGTGCCCCAGTGTG CGCTGACTTAGCCTCTTCATACTGTCCCAGTGTGCACTCACCTAGCCTCA TCATAGTGTCCATGTGTGCGCTCAGCCAGGCTCATCATAGTGTCCCAGTG TGCACTCACCTAGCCTCATCAGAGTCCCAGGGTGCGCTCACCTAGCCTCA TCATAGTATCCCAGTGTGCGCTCACACGGCCTCATCATAGTGTCCCAGTG TGCGCTCACCTA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	344	0.0029	811	c.327 others(828): Show c.327+5931_327+5932insTAGGTGAGCGCACACTGGGACACTATGA TGAGGCCGTGTGAGCGCACACTGGGATACTATGATGAGGCTAGGTGAGCG CACCCTGGGACTCTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGA TGAGCCTGGCTGAGCGCACACATGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGACAGTATGAAGAGGCTAAGTCAGCGCACACTGGGGCACTAT GATGAGACCAGGTGAGCGCCCACTGGGGCACTATTGTGAGGCCAGGTGAA CGCACAGTGGCGCACTATGACGAGGCTAAGTGAGTGCACACTGGGGTACT ATGACGAGGCTACGTGAGCGGTCACTGGGGCACTATGATGAGGCCAGGTG AGCTCACACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGGCA CTGTGATGCTAGTTGAGTTCACACTGCGGCACTATGATGAGGCTAGGTGA GCGCAAACTGGGACAGTATGATGAGGCTAGGTGAGCGCACACTGGGGCAC TATGATGAGGCTAGTTGAGTGCACACTGGCGCACTATGATGAGGATTGAT GAGCGGCCACTGGGGTACTATGATGAGGCTATCTGATCGCACACTAGGGC ACTATGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAGGCCAG CTTAGTGCACACTGGGACACTATGATGAGTTTAGGTGAGCGGATACTGGG GCACTATGATGAGGCTAAGTGAGCTGATCGTGGGGCACTATGATCAGGCT AGGTGACCGGACACTGGGAAACTATGATGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTAGGGA others(804): Show GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTA GGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG AGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGAT TAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC TGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTA GGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0089 a0002c0002t0004g0089	1	466	0.0022	811	c.47 others(822): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCC TCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATCCCTG CCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAA CCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCT GGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCC TCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAA CCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCT GGCCTCCCTGACCCTTGGTCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(804): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCATCACCCCTGGATT AATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACC CCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCC CAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGT TTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAA TACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCC CAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCCATC ACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCC CTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGA TTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAA TACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCC CCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACC ACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCC CTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGAT TAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0320 a0002c0007t0001g0320	1	344	0.0029	811	c.141 others(830): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATC ACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCC TGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGA TTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATC CCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATC CCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATA CCCCATCACCCCTGGATTAATCCCCCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(804): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATT CCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTG AGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATG ATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATT TTTTATGGCTGCATAGTATTCCATAGTGTATATGTGCCACATTTTCTTAA TCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATT GTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCA TGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAA ATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCAC AATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTAT TTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTG CCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATT TCTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATTAAAAAAAAAAA AAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0117 a0010c0012t0002g0117	1	152	0.0066	811	c.147 others(830): Show c.1471+5396_1471+5397insTTTTATTTTTTTTTTTTTTTTTTAAT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAAA CCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAG TCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTT ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT GGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATC CCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACTATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT GTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTCGGGGGAGGGGGGGAGGGATAGCATTGGGAGATA TACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCAC ATGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(804): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCAACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAA AAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0040 a0005c0006t0002g0040	1	152	0.0066	811	c.147 others(830): Show c.1471+5396_1471+5397insTTTTATTTATTTTTTTTTTTTTTTAA TTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAA ACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAA GTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTT TACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTG TGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAT CCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAG ACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT TGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTG GCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCA TGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAA CTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG GAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCT GGGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATA TACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCAC ATGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(804): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATAGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAA AAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02523.hp1 HG03471.hp2 HG02145.hp1 HG02523.hp1 HG03471.hp2	a0004 a0006 a0021 a0004 a0006 a0021	a0004c0007 a0006c0009 a0021c0034 a0004c0007 a0006c0009 a0021c0034	a0004c0007t0002 a0006c0009t0003 a0021c0034t0002 a0004c0007t0002 a0006c0009t0003 a0021c0034t0002	a0004c0007t0002g0004 a0006c0009t0003g0115 a0021c0034t0002g0122 a0004c0007t0002g0004 a0006c0009t0003g0115 a0021c0034t0002g0122	3	152	0.0197	811	c.147 others(830): Show c.1471+5396_1471+5397insTTTTATTTATTTTTTTTTTTTTTTAA TTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAA ACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAA GTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTT TACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTG TGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAT CCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAG ACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT TGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTG GCACATATACACTATGGAATACTATGCAGCCATAAAAAATGATGAGTTCA TGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAA CTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG GAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCT GGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATA TACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCAC ATGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(804): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATAGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAT AAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03704.hp1 HG00639.hp2 HG03704.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0113 a0002c0005t0002g0118 a0002c0005t0002g0113 a0002c0005t0002g0118	2	152	0.0132	811	c.147 others(830): Show c.1471+5396_1471+5397insTTTTATTTATTTATTTTTTTTTTTAA TTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAA ACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAA GTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTT TACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTG TGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAT CCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAG ACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT TGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTG GCACATATACACTATGGAATACTATGCAGCCATAAAAAATGATGAGTTCA TGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAA CTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG GAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCT GGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATA TACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCAC ATGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870354	C C	CCCCCACA others(804): Show CCCCCACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCATACACACCACAC ACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC ACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCCCACAC ACCACACCCCACACACACCACACACCCCCCACACACCACACACCATACAC ACCACACCCCACACACACCACACCCCCCACACACCACACCCCACACACCA CACCCCACACACACCACACACCACACACACCACACCCCATACACACCACA CCCCATACACACCACACCCCACACACACCACACCCCACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC CCACACACCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	338	0.0030	811	c.35 others(830): Show c.35+21623_*35+21624insCCACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCCCACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCATACACACCACACACCCCCCACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCC CACACACCACACACCATACACACCACACCCCACACACACCACACCCCCCA CACACCACACCCCACACACCACACCCCACACACACCACACACCACACACA CCACACCCCATACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCCCACACACCACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467316	A A	AGGAAGAG others(804): Show AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGGGAGGAAGAGGTGTGTGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAG GAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGAGGAG GTGTGTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0007 a0020c0022t0001g0007	1	271	0.0037	811	c.93 others(820): Show c.933_*934insGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGGAAGAGGTGGTGTGTGGGGA GGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGGGAGGA AGAGGTGTGTGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTG GGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGAGGAGGTGTGTGGGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		807		chrX	TogoVar
YBEY_chr21_46281342_46302751	46292619	G G	GAGTCAGC others(804): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGAAGTGAGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	404	0.0025	811	c.339 others(828): Show c.339+1157_339+1158insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACG CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGAAGTGAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCAGAC others(805): Show TCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0330 a0002c0003t0001g0330	1	336	0.0030	812	c.361 others(831): Show c.3614+2641_3614+2642insAGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCT CCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCCCCATCTCCCT CCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(805): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCCGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	336	0.0030	812	c.361 others(831): Show c.3614+2662_3614+2663insAGGGGGCCCGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(805): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCAGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0218 a0009c0012t0001g0218	1	336	0.0030	812	c.361 others(831): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGG CTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGGCAGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(805): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0153 a0001c0005t0001g0153	1	336	0.0030	812	c.361 others(831): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(805): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02602.hp1 HG03098.hp1 HG00741.hp2 HG02602.hp1 HG03098.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0322 a0002c0003t0001g0256 a0003c0004t0001g0182 a0001c0001t0001g0322 a0002c0003t0001g0256 a0003c0004t0001g0182	3	336	0.0089	812	c.361 others(831): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 7053 hits)