Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMEM120B_chr12_121707752_121787068	121747847	C C	CGGGAGGC others(545): Show CGGGAGGCTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGATAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19054.hp1 HG03927.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0097 a0001c0001t0001 a0001c0001t0097	a0001c0001t0001g0185 a0001c0001t0097g0311 a0001c0001t0001g0185 a0001c0001t0097g0311	2	314	0.0064	552	c.189 others(567): Show c.189-468_189-467insATAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGATAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128647892	G G	GTTGGATG others(545): Show GTTGGATGTGAGTGTGTTTACCAGATGCCATCAACGTTAAATATGAGTGT GTTTACTGGAGTCCATCAGCGTTGGATGTGAGTGTGTTTACTAGATCCCA TCAGTGTTGGATGTGAGTGTGTTTACTGGAGTCCATCAGCGTTGGATATG AGTGTGTTTACTGGAGTCCATTAGCATTGGAAGTGAGTGTGTTTACTGGA GTCCATCAGCATTGGATATGAGCGTGTTTACTGGAGTCCATCAGCGTTGG ATGAGTGTGTTTACTAGATCCCATCAGTGTTGGATGTGAGTGTGTTTACT GGAGTCCATCAGCGTTGGATATGAGTGTGTTTACTGGAGTCCATCAGCAT TGGATATGAGTGTGTTTACTGGAGTCTATCAGCGTTGGATGAGTGTGTTT ACTGGAGTCCATCAGCATTGGATGAGTGTGTTTACTGGAGTCCATCAGCA CTGGATGTGAGTGTGTTTAGCTCAGTCCATCAGCGTTGGATGAGTGTGTT TACTGGAGTCCATCGGCGTTGGATGTGAGTGTGTTTACTGGAGTCCATCA GCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0002 a0002c0038t0002	a0002c0038t0002g0014 a0002c0038t0002g0014	1	170	0.0059	552	c.130 others(573): Show c.1306-21506_1306-21505insCCAGATGCCATCAACGTTAAATAT GAGTGTGTTTACTGGAGTCCATCAGCGTTGGATGTGAGTGTGTTTACTAG ATCCCATCAGTGTTGGATGTGAGTGTGTTTACTGGAGTCCATCAGCGTTG GATATGAGTGTGTTTACTGGAGTCCATTAGCATTGGAAGTGAGTGTGTTT ACTGGAGTCCATCAGCATTGGATATGAGCGTGTTTACTGGAGTCCATCAG CGTTGGATGAGTGTGTTTACTAGATCCCATCAGTGTTGGATGTGAGTGTG TTTACTGGAGTCCATCAGCGTTGGATATGAGTGTGTTTACTGGAGTCCAT CAGCATTGGATATGAGTGTGTTTACTGGAGTCTATCAGCGTTGGATGAGT GTGTTTACTGGAGTCCATCAGCATTGGATGAGTGTGTTTACTGGAGTCCA TCAGCACTGGATGTGAGTGTGTTTAGCTCAGTCCATCAGCGTTGGATGAG TGTGTTTACTGGAGTCCATCGGCGTTGGATGTGAGTGTGTTTACTGGAGT CCATCAGCATTGGATGTGAGTGTGTTTA	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(545): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01515.hp1 HG01517.hp2 others(1): Show HG01257.hp1 HG01515.hp1 HG01517.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0101 a0001c0001t0154 a0001c0001t0023 a0001c0001t0101 a0001c0001t0154	a0001c0001t0023g0013 a0001c0001t0101g0131 a0001c0001t0154g0084 a0001c0001t0023g0013 a0001c0001t0101g0131 a0001c0001t0154g0084	4	260	0.0154	552	c.54 others(563): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCC TCCAGGGGACACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817352	C C	CGGGACAC others(545): Show CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCTCGGGGCACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01516.hp2 HG01099.hp1 HG01123.hp1 HG01516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0073 a0002c0004t0004 a0002c0004t0144 a0001c0001t0073 a0002c0004t0004 a0002c0004t0144	a0001c0001t0073g0134 a0002c0004t0004g0004 a0002c0004t0144g0045 a0001c0001t0073g0134 a0002c0004t0004g0004 a0002c0004t0144g0045	3	260	0.0115	552	c.54 others(563): Show c.5449_*5450insGGGACACATACCCCCTCCCCCCACGGGACACATC CCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCC CCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCC TCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATACCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACA CATACCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		358		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817352	C C	CGGGACAC others(545): Show CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCTCGGGGCACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp2 others(5): Show HG00140.hp2 HG00639.hp2 HG01081.hp2 HG01515.hp2 HG03491.hp1 HG03492.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0018 a0001c0001 a0002c0004 a0002c0018	a0001c0001t0161 a0002c0004t0004 a0002c0004t0139 others(2): Show a0001c0001t0161 a0002c0004t0004 a0002c0004t0139 a0002c0004t0145 a0002c0018t0004	a0001c0001t0161g0001 a0002c0004t0004g0037 a0002c0004t0004g0042 others(5): Show a0001c0001t0161g0001 a0002c0004t0004g0037 a0002c0004t0004g0042 a0002c0004t0004g0043 a0002c0004t0004g0044 a0002c0004t0139g0038 a0002c0004t0145g0034 a0002c0018t0004g0213	8	260	0.0308	552	c.54 others(563): Show c.5449_*5450insGGGACACATACCCCCTCCCCCCACGGGACACATC CCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCC CCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCC TCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACA CATACCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		358		chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930879	G G	GGTTAGGG others(545): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTT GGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCG GGGTTAGGGAGGCTGGGGTTAGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG GTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTT AGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGG CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18946.hp1 NA18951.hp2 others(4): Show HG00558.hp2 NA18946.hp1 NA18951.hp2 NA18970.hp2 NA18975.hp1 NA19055.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0020 a0002c0002t0007g0145 a0002c0002t0002g0020 a0002c0002t0007g0145	7	466	0.0150	552	c.47 others(563): Show c.4711_*4712insTGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC AGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4490		chr11	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(545): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0156 a0001c0001t0020g0156	1	250	0.0040	552	c.82+ others(567): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX3A_chrX_6528618_6540118	6533515	T T	TCCCCACA others(545): Show TCCCCACACACCTCTTCTTCCCTCCCTCCCCACACACCTCCTCTTCCTCC CTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTC CCTCCCCACACACCTCTCCCTCCCTCCCTCCCTCCCCACACACCTCTTCC TCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACTTCTTCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	74	0.0135	552	c.22 others(561): Show c.229_*230insGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAAGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGG AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAA GAAGAGGTGTGTGGGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		102		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(545): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	408	0.0025	552	c.53+ others(567): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(545): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	326	0.0031	552	c.483 others(567): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR7_chr18_56646359_57034792	57024535	A A	ACAGGAAT others(545): Show ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTAT AGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTA TGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACAT ATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGT CCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATG TGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTC AGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	144	0.0069	552	c.427 others(571): Show c.4270-2401_4270-2400insACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTAT AGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTC others(545): Show CCCCCCTCTTGCCCCCTTCCCCCCTCCCCCTTCCCCCTTCCCCCCTCCCC CTTCCCCCTTCCCCCATCCCCTTCCCCCTTTCCCCCTTCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTACCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCC CTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	246	0.0041	552	c.-10 others(569): Show c.-10-3218_-10-3217insCTTGCCCCCTTCCCCCCTCCCCCTTCCC CCTTCCCCCCTCCCCCTTCCCCCTTCCCCCATCCCCTTCCCCCTTTCCCC CTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTACCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCTCCTTCCCCCCTTCCCCCT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(545): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATAT CTATCTCATATATATGTCCCATATATATATCTCATATATATGTCCCATAT ATATATATCTCATATATATGTCCCATATATACATATCTCATATATATGTC CCATATATACATATCTCATATATATGTCCCATATATACATATCTCATATA TATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCT CATATATATGTCCCATATATACATATCTCATATATATGTCCCATATATAC ATATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCAT ATATACATATCTCATATATATGTCCCATATATACATATCTCATATATATG TCCCATATATACATATCTCATATATATGTCCCATATATACATATCTCATA TATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATAT CTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0093 a0001c0001t0013g0093	1	350	0.0029	552	c.-46 others(563): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATATCTATCTCATATATATGTCCCATATATATATCTCAT ATATATGTCCCATATATATATATCTCATATATATGTCCCATATATACATA TCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATATA TACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTCC CATATATACATATCTCATATATATGTCCCATATATACATATCTCATATAT ATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCTC ATATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACA TATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATA TATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGT CCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(545): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATAT CTATCTCATATATATGTCCCATATATATATCTCATATATATGTCCCATAT ATATATATCTCATATATATGTCCCATATATATATATCTCATATATATGTC CCATATATACATATCTCATATATATGTCCCATATATACATATCTCATATA TATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCT CATATATATGTCCCATATATACATATCTCATATATATGTCCCATATATAC ATATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCAT ATATACATATCTCATATATATGTCCCATATATACATATCTCATATATATG TCCCATATATACATATCTCATATATATGTCCCATATATACATATCTCATA TATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATAT CTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0092 a0001c0001t0013g0092	1	350	0.0029	552	c.-46 others(563): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATATCTATCTCATATATATGTCCCATATATATATCTCAT ATATATGTCCCATATATATATATCTCATATATATGTCCCATATATATATA TCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATATA TACATATCTCATATATATGTCCCATATATACATATCTCATATATATGTCC CATATATACATATCTCATATATATGTCCCATATATACATATCTCATATAT ATGTCCCATATATACATATCTCATATATATGTCCCATATATACATATCTC ATATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACA TATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATA TATACATATCTCATATATATGTCCCATATATACATATCTCATATATATGT CCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401866	C C	CCTCCACC others(545): Show CCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCAC ACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCC CTCCACCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCC GCGCCGCACCCCTCCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGC ACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAAC CACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCA TCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02809.hp2 HG02559.hp1 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0072 a0001c0006t0058 a0001c0006t0061 a0001c0004t0072 a0001c0006t0058 a0001c0006t0061	a0001c0004t0072g0113 a0001c0006t0058g0104 a0001c0006t0061g0112 a0001c0004t0072g0113 a0001c0006t0058g0104 a0001c0006t0061g0112	3	346	0.0087	552	c.181 others(573): Show c.1811-21564_1811-21563insAGATGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGG TGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGCTGTGGTTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGA GGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGG TGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGG TGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTG GTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGT GCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGG TTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGGTGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1825034	C C	CACACCCC others(546): Show CACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCAC CCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTT CACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCC ACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACC CCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCC CCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0012 a0001c0007 a0001c0012	a0001c0007t0003 a0001c0012t0003 a0001c0007t0003 a0001c0012t0003	a0001c0007t0003g0346 a0001c0012t0003g0347 a0001c0007t0003g0346 a0001c0012t0003g0347	2	363	0.0055	553	c.-48 others(568): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCTACA CCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCC CCCCGCACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(546): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACC CCAGCTGTCCCCCTACACCCCACCTGTTCACCCGCACTCCACCTGTCCCC CCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCAC CTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp2 HG02486.hp2 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0044 a0001c0002 a0004c0044	a0001c0002t0003 a0004c0044t0004 a0001c0002t0003 a0004c0044t0004	a0001c0002t0003g0348 a0004c0044t0004g0349 a0001c0002t0003g0348 a0004c0044t0004g0349	2	363	0.0055	553	c.-48 others(568): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCT GTTTACTCTGCACCCCAGCTGTCCCCCTACACCCCACCTGTTCACCCGCA CTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCTGCACCTCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGAGAACA others(546): Show GGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACAC ATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCA GAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAA CACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGG GGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGG GAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGG GGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGG AGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGG CAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0301 a0002c0002t0013g0301	1	308	0.0033	553	c.52 others(564): Show c.5246_*5247insTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTG TTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTC CTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCC CCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTC CCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCC CCATGTGTTCCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGT TCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCT GCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCAT GTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCT CTGCCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2619		chr8	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(546): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGAGGGGGAAG GGGAGGAGGAAGGGGAGGAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAAGACGGA GGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAG GAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGAGGAGGAGGAAGGGG GAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGG GAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	553	c.-70 others(562): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAGGAGGAGGAGGAAGTGGG GAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGGAGCGGGAGGAGGA AGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGG GAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGAGCGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGAG GAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGG AAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(546): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTGTGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	144	0.0069	553	c.354 others(572): Show c.354+10718_354+10719insTTTTTTTTTTTTTTTTACAAAAAGGA ACACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAATCAT GAATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAAAAAA GAACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGATACCA ACACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAAAAAG ACATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAATACC CACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTCACCA AAAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCACAATGGAATTA AGTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGCAAAT TAGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGATAGT ACTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATCAAAA TAATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44182132	T T	TACAGACA others(546): Show TACAGACACAACCACACACACACACACACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACACACACACACACTCACATACAGA CACAACCACACCACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0014 a0003c0003t0002g0014	2	460	0.0044	553	c.193 others(570): Show c.1939-806_1939-805insGACACAACCACACACACACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACACACA CACACACTCACATACAGACACAACCACACCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(546): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAGGGAGGGG TGGGGTGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGG GGGTGGGGTGGAGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGG GTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGG TGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGG TGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	284	0.0035	553	c.712 others(570): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCCTCC CCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCACCCC TCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCC TCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACT CCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCC TCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCA CCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACAC ACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCC ACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(546): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTATGGGAGTGTATGGGTGTGTGTG TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGGGAGT GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0003 a0005c0036t0003	a0005c0036t0003g0157 a0005c0036t0003g0157	1	336	0.0030	553	c.341 others(570): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACACACCCATACTCACACTCCCATACACACACACTCACTCCCATACACAC ACACCCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTC ACACTCCCATACACACACACCCATACACTCCCATACACATTCCCATACAC AACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATA CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA TACACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(546): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGG GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01192.hp1 others(22): Show HG00609.hp1 HG00741.hp2 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01515.hp1 HG01928.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02273.hp1 HG02273.hp2 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp1 NA19088.hp1	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0015 a0024	a0001c0006 a0004c0004 a0004c0032 others(3): Show a0001c0006 a0004c0004 a0004c0032 a0008c0017 a0015c0030 a0024c0039	a0001c0006t0002 a0004c0004t0001 a0004c0004t0002 others(6): Show a0001c0006t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0032t0002 a0008c0017t0001 a0015c0030t0003 a0024c0039t0003	a0001c0006t0002g0075 a0001c0006t0002g0123 a0004c0004t0001g0247 others(20): Show a0001c0006t0002g0075 a0001c0006t0002g0123 a0004c0004t0001g0247 a0004c0004t0001g0249 a0004c0004t0002g0023 a0004c0004t0002g0211 a0004c0004t0002g0216 a0004c0004t0002g0219 a0004c0004t0002g0220 a0004c0004t0002g0222 a0004c0004t0002g0230 a0004c0004t0002g0235 a0004c0004t0002g0236 a0004c0004t0002g0248 a0004c0004t0003g0024 a0004c0004t0003g0228 a0004c0004t0007g0218 a0004c0032t0002g0226 a0008c0017t0001g0223 a0008c0017t0001g0227 a0008c0017t0001g0245 a0015c0030t0003g0237 a0024c0039t0003g0255	25	336	0.0744	553	c.341 others(570): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACATTCCCATACACAACC CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA TACACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(546): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00639.hp1 others(41): Show HG00544.hp2 HG00558.hp1 HG00639.hp1 HG01358.hp2 HG01433.hp2 HG02071.hp1 HG02155.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03491.hp1 HG03540.hp1 HG03704.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18964.hp1 NA18972.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA19009.hp2 NA19011.hp1 NA19060.hp2 NA19066.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp1 NA19087.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0011 a0027	a0001c0001 a0001c0006 a0001c0026 others(5): Show a0001c0001 a0001c0006 a0001c0026 a0001c0053 a0002c0002 a0006c0008 a0011c0016 a0027c0043	a0001c0001t0002 a0001c0006t0001 a0001c0006t0002 others(11): Show a0001c0001t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0026t0004 a0001c0053t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0006c0008t0002 a0011c0016t0002 a0027c0043t0002	a0001c0001t0002g0057 a0001c0006t0001g0074 a0001c0006t0002g0070 others(33): Show a0001c0001t0002g0057 a0001c0006t0001g0074 a0001c0006t0002g0070 a0001c0006t0002g0071 a0001c0006t0002g0092 a0001c0006t0002g0099 a0001c0006t0002g0102 a0001c0006t0002g0111 a0001c0006t0004g0094 a0001c0006t0004g0095 a0001c0026t0004g0149 a0001c0053t0002g0055 a0002c0002t0002g0002 a0002c0002t0002g0018 a0002c0002t0002g0035 a0002c0002t0002g0165 a0002c0002t0002g0168 a0002c0002t0002g0171 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0272 a0002c0002t0003g0274 a0002c0002t0004g0262 a0002c0002t0005g0279 a0002c0002t0005g0280 a0002c0002t0008g0209 a0006c0008t0002g0003 a0006c0008t0002g0281 a0006c0008t0002g0282 a0006c0008t0002g0295 a0011c0016t0002g0017 a0011c0016t0002g0170 a0027c0043t0002g0273	44	336	0.1310	553	c.341 others(570): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA TACACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(546): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGG GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0271 a0002c0002t0004g0271	1	336	0.0030	553	c.341 others(570): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCACACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC CATACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACT CCCATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCA TACACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCACC others(546): Show CCCCCACCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCACCCACCCACCCATCCGTCCACCCATCCGTCCACCCGTCCG TCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATC CCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATC CACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCTG TCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACC CATCCATCCACTCACCCATCCGTCCACTCACCCATGTGTCCACCCATTCC CCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02717.hp2 HG03579.hp2 HG00639.hp1 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0287 a0001c0002t0001g0331 a0001c0015t0001g0330 a0001c0002t0001g0287 a0001c0002t0001g0331 a0001c0015t0001g0330	3	348	0.0086	553	c.13 others(564): Show c.1317_*1318insCCCCACCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCACCCACCCACCCATCCGTCCACCCAT CCGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCC ATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGC CCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCC GTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCC ACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCAT GTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(546): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCCACCCGCA CCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACC CCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCG CACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCGCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACC CCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCG CACCCCCACCCTCACCCCCACCCCCACCCCCACCCTCACCCGCACCCCCA CCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	320	0.0031	553	c.39 others(564): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGGTGGGGGTGGGGGTGCGG GTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGT GGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGT GGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DLGAP2_chr8_732628_1713476	1562639	G G	GCGCCTCG others(546): Show GCGCCTCGTTACTGGGGGGCTGTGTGGTGTTGGGGTGTCTGCGCCTCGTT ACTGGGGGACTGGTGTTGGAGTGTCTGCGCCTCGTTACTGGGGGACTGTG TGGTGTTGGGTGTCTGCGCCTCGTTGCTGGGGGACTGTGTGGTGTTGGGG TGTCCGCGCCTCGTTACTGGGGGGCTGTGTGGTTTTGGGGTGTCCGCGCC TCATTACTGGGGGGCTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGG GGGGCTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGT GGTGTTGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGGT GTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCT CGTTACTGGGGGACTGTGTGGTGTTGGGTGTCCGCGCCTCGTTACTGGGG GACTGTGTGGAGTTGGGGTGTCCGCGCCTCGTTGCTGCGGGACTGTGTGG TGTTGGGGTGTCCGCGCCTCGTTGCTGTGGGACTGTGTGGTGTTGGGGTG TCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	553	c.123 others(572): Show c.1231-3035_1231-3034insACTGGGGGGCTGTGTGGTGTTGGGGT GTCTGCGCCTCGTTACTGGGGGACTGGTGTTGGAGTGTCTGCGCCTCGTT ACTGGGGGACTGTGTGGTGTTGGGTGTCTGCGCCTCGTTGCTGGGGGACT GTGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGGCTGTGTGGTTTT GGGGTGTCCGCGCCTCATTACTGGGGGGCTGTGTGGTGTTGGGGTGTCCG CGCCTCGTTACTGGGGGGCTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTA CTGGGGGACTGTGTGGTGTTGGGTGTCCGCGCCTCGTTACTGGGGGACTG TGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTG GGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCCGCG CCTCGTTACTGGGGGACTGTGTGGAGTTGGGGTGTCCGCGCCTCGTTGCT GCGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTGCTGTGGGACTGT GTGGTGTTGGGGTGTCCACGCCTCGTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(546): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACACCACACCACACCAGCCACCACACATACAGCACACACAC AAACACACCACACACACTACACTATATACCACACACACTCCAAACCCCAC ACACATTACACATCACACCACACACACACACACCAGATAACATACCACAC ACTACATACCACATGTACCACACACAACACACATCCGACATACCACACAC AGCACATACCACATACCACATTACATACCACACCACATACCACACATCCT ACATACCACATCATACACACCACACACAACACATACTACACACCCCACAG TACCACATACACCACATAACACACTACATGCCACACTTCTTCCATACATC ATACATACCACAAACATCACACAGCACATACCACACATTCCACATACGAC ATCATACACACCACACACACTGCACATATTATACCAACACATCCCACATA CCAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0028 a0002c0004t0006g0028	1	38	0.0263	553	c.243 others(572): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGCCACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACACACACCAGATAACATACCACACACTACATACCA CATGTACCACACACAACACACATCCGACATACCACACACAGCACATACCA CATACCACATTACATACCACACCACATACCACACATCCTACATACCACAT CATACACACCACACACAACACATACTACACACCCCACAGTACCACATACA CCACATAACACACTACATGCCACACTTCTTCCATACATCATACATACCAC AAACATCACACAGCACATACCACACATTCCACATACGACATCATACACAC CACACACACTGCACATATTATACCAACACATCCCACATACCATATCATAT ACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(546): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGGATGGAGGGAGGGAAGGAGGGAAGGGAG GGAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGA TGGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGGAAGGAGGGGAGGG AGGGAGGGAGGGGAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGG AGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAA GGAGGGAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAA GAGGAAGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGG AAAGGAGGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGG AGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGG AGGG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	290	0.0035	553	c.757 others(570): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT CCCTTCCCTCCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTC CCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCCTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCC CTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCCTCCTCCC CTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTC CCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTC CATCCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCT TCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGTTGG others(546): Show TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTTGTCGTGG TGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGG TGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGT TGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	170	0.0059	553	c.86- others(566): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGA GGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTG GTGGGGGAGGAAGTTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315925	A A	ATCACCAC others(546): Show ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT ACACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATAC ACACCCCCACCACCATCCTCACCACCATCCCCATACACACCCCCACCACC ATCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	250	0.0040	553	c.259 others(572): Show c.259+22091_259+22092insGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTG GTAGGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGG TGATGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGT AGGGGGTGTGGATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99923607	T T	TGTAAAGG others(546): Show TGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGAC ACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGAT ACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCG ATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTA TCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTAT TTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAA ATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCG TTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAA AGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTT TGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCA GTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAG AAAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0117 a0001c0003t0007g0117	1	288	0.0035	553	c.190 others(572): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTAT CAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATT TCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAA TCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGT TGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAA GGTTTATTTCCGGATACTCAGTTCTGC	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(546): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAACTA TATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0248 a0004c0005t0002g0248	1	268	0.0037	553	c.-28 others(564): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTAGTATATT AATATATAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067594	T T	CGCACACA others(546): Show CGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTG CACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCT GCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCT TCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTC TGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTC TTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCT GCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCT TCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTC TGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTC TTCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	233	0.0043	553	c.130 others(572): Show c.1303-2586_1303-2585insGAAGAGCTTGAGTGAACCTGGAGCTC AGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAG CTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGA GCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGC TCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTC AGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAG CTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGA GCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGC TCAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGG AGCTCAGGGGGGTGACCTGTGTGTGCG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(546): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCC CACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGC CCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG06807.hp1 others(2): Show HG02109.hp2 HG02717.hp1 HG06807.hp1 NA18939.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0083 a0001c0001t0001g0169 a0001c0001t0001g0300 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0169 a0001c0001t0001g0300 a0001c0001t0002g0152 a0001c0001t0005g0066	5	312	0.0160	553	c.-41 others(568): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCG CCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAG CCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(546): Show CGCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	312	0.0032	553	c.-41 others(568): Show c.-41+629_-41+630insCCCCACAGCCGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCC GCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857064	G G	GCCCCCAC others(546): Show GCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCT CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCGCAGCCG CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAG CTGC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	312	0.0032	553	c.-41 others(568): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCG CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCGCAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LOC128125818_chr4_6059977_6075162	6067594	T T	CGCACACA others(546): Show CGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTG CACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCT GCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCT TCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTC TGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTC TTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCT GCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCT TCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTC TGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTC TTCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0116 a0001c0001t0000g0116	1	462	0.0022	553	c.106 others(570): Show c.106+2463_106+2464insGAAGAGCTTGAGTGAACCTGGAGCTCAG GGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCA GGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGC TCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTC AGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAG GGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCA GGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTC AGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAG CTCAGGGGGGTGACCTGTGTGTGCG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(546): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATAC CCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0258 a0001c0004t0002g0258	1	296	0.0034	553	c.368 others(570): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGT GGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LUC7L_chr16_183990_234449	186867	G G	GGAGGAAC others(546): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACA CGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGA ACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGGGAACAGCGACACGGGAGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGA GGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	350	0.0029	553	c.23 others(564): Show c.2330_*2331insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCTCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2122		chr16	TogoVar
MAEA_chr4_1284891_1345137	1317139	G G	GCAGGCCC others(546): Show GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAG CCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAG GCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	388	0.0026	553	c.456 others(570): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACC CCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(546): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC TGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGG CTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTG CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGC GCCT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0216 a0005c0005t0006g0216	1	292	0.0034	553	c.218 others(568): Show c.2189-97_2189-96insAGGCGCGGGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCTATGTGAGG CACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGTGCAGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACAGG GGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGG CACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
NCAPG2_chr7_158626169_158709804	158668239	G G	GCCCCCCG others(546): Show GCCCCCCGTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGT GTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCC TCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCT CCGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	378	0.0027	553	c.147 others(572): Show c.1479+3274_1479+3275insGCGGAGGGACCCAGGGTCGGTAAGGA AGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTG TGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAG AGGGACCCAGTAGTGGGTAACGGGGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(546): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAACTA TATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0264 a0002c0002t0001g0264	1	422	0.0024	553	c.195 others(570): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTAATATAGTTACTATATATTAATATACTA ACTATATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA TACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(546): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGT TTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAAC TATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAG TTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATA TAGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp1 HG02040.hp1 others(1): Show HG00544.hp1 HG01168.hp1 HG02040.hp1 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0116 a0002c0001t0001g0129 a0002c0001t0001g0145 others(1): Show a0002c0001t0001g0116 a0002c0001t0001g0129 a0002c0001t0001g0145 a0002c0001t0001g0147	4	244	0.0164	553	c.342 others(572): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATA TAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATATA GTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTT TATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATA AACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTATATAGTT TAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(546): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGAGAGGGAGGG GAGGGGGGAGAGGGAGGGGAGGGGGGGAGAGGGGGGAGAGAGAGGGAGGG GGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGA GAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGTGAGTGAGAGAGAGAGGGAGAGAGA GGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0080 a0001c0004t0019g0080	1	386	0.0026	553	c.92 others(564): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCACCCTT TCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTC TCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCC CATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCC TCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTC TCCCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTC TCCCTCCCTCCCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCCC TCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCTCTCTCCCTCCCTCTCTC TCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCCTCTCCCTCCC TCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCC CTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTC CCCCCTCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
PIAS4_chr19_4002736_4044386	4011909	T T	TGGGGTGT others(546): Show TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18612.hp2 HG00609.hp1 NA18612.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0005 a0001c0012t0005 a0001c0005t0005 a0001c0012t0005	a0001c0005t0005g0234 a0001c0012t0005g0233 a0001c0005t0005g0234 a0001c0012t0005g0233	2	334	0.0060	553	c.28- others(566): Show c.28-998_28-997insGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGAGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(546): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAG AGCGGCTCCTCACTTCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCAC TTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCC GGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	250	0.0040	553	c.328 others(572): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCATCCCAGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGG CCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGTGGCCGGCCAGAGGCG CCCCTCACTTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCACACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)