Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KLK7_chr19_50971468_50988917	50980850	A A	AGAGAGGG others(553): Show AGAGAGGGGGACAGAGATCCAGAGAGAGAGGGACAGAGACCCAGAGAGAG AGGGACAGAGACCCAGAGAGAGGGGAACAGAGACCAGAGAGAGAGGGGGA CAGAGCCCCAGAGAGAGGAAGACAGAGAGCCAGGGAGAGAGGGGGACAGA GCCCCAGGGAGAGGGGGACAGAGATCCAGAGAGAGAGGAGGGGGAACAGA GACCAGAGAGAGAGGGGAACAGAGACCCAGAGAGAGAGGGACAGAGACCC ACAGAGAGAGGAGGGGGAACAGAGACCAGAGAGAGAGGGTGACAGAGACC CAGAGAGAGAGGGTGACAGAGACCCAGAGAGAGAGGGACAGAGACCAGAG AGAGAGGAGGGGGAACAGAGACCAGAGAGAGAGGGGGACAGAGACCCAGA GAGAGAGGGACAGAGACCCAGAAAGAGAGGAGGGGGAACAGAGACCCAGA GAGAGAGGGGGACAGAGACACAGAGGGGAACAGAGATCCAGAGAGAAAGG CAGACAGAGACCCAGAGAGAGGGGGACAGAGCCCCAGGGAGAGGGGGTAC AGAGGCCCAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 NA20300.hp1 HG01243.hp1 HG01891.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0128 a0001c0001t0002g0039 a0001c0001t0002g0128	3	384	0.0078	560	c.222 others(575): Show c.222-364_222-363insCCTGGGCCTCTGTACCCCCTCTCCCTGGGG CTCTGTCCCCCTCTCTCTGGGTCTCTGTCTGCCTTTCTCTCTGGATCTCT GTTCCCCTCTGTGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTTCCCCC TCCTCTCTTTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCCT CTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTCTGGTCTCTGTCCCTCT CTCTCTGGGTCTCTGTCACCCTCTCTCTCTGGGTCTCTGTCACCCTCTCT CTCTGGTCTCTGTTCCCCCTCCTCTCTCTGTGGGTCTCTGTCCCTCTCTC TCTGGGTCTCTGTTCCCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCT CTCTGGATCTCTGTCCCCCTCTCCCTGGGGCTCTGTCCCCCTCTCTCCCT GGCTCTCTGTCTTCCTCTCTCTGGGGCTCTGTCCCCCTCTCTCTCTGGTC TCTGTTCCCCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTC CCTCTCTCTCTGGATCTCTGTCCCCCTCTC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	3/5			chr19	TogoVar
KLK7_chr19_50971468_50988917	50980850	A A	AGAGAGGG others(553): Show AGAGAGGGGGACAGAGATCCAGAGAGAGAGGGACAGAGACCCAGAGAGAG AGGGACAGAGACCCAGAGAGAGGGGAACAGAGACCAGAGAGAGAGGGGGA CAGAGCCCCAGAGAGAGGAAGACAGAGAGCCAGGGAGAGAGGGGGACAGA GCCCCAGGGAGAGGGGGACAGAGATCCGGAGAGAGAGGAGGGGGAACAGA GACCAGAGAGAGAGGGGAACAGAGACCCAGAGAGAGAGGGACAGAGACCC ACAGAGAGAGGAGGGGGAACAGAGACCAGAGAGAGAGGGTGACAGAGACC CAGAGAGAGAGGGTGACAGAGACCCAGAGAGAGAGGGACAGAGACCAGAG AGAGAGGAGGGGGAACAGAGACCAGAGAGAGAGGGGGACAGAGACCCAGA GAGAGAGGGACAGAGACCCAGAAAGAGAGGAGGGGGAACAGAGACCCAGA GAGAGAGGGGGACAGAGACACAGAGGGGAACAGAGATCCAGAGAGAAAGG CAGACAGAGACCCAGAGAGAGGGGGACAGAGCCCCAGGGAGAGGGGGTAC AGAGGCCCAGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	384	0.0026	560	c.222 others(575): Show c.222-364_222-363insCCTGGGCCTCTGTACCCCCTCTCCCTGGGG CTCTGTCCCCCTCTCTCTGGGTCTCTGTCTGCCTTTCTCTCTGGATCTCT GTTCCCCTCTGTGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTTCCCCC TCCTCTCTTTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCCT CTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTCTGGTCTCTGTCCCTCT CTCTCTGGGTCTCTGTCACCCTCTCTCTCTGGGTCTCTGTCACCCTCTCT CTCTGGTCTCTGTTCCCCCTCCTCTCTCTGTGGGTCTCTGTCCCTCTCTC TCTGGGTCTCTGTTCCCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCT CTCCGGATCTCTGTCCCCCTCTCCCTGGGGCTCTGTCCCCCTCTCTCCCT GGCTCTCTGTCTTCCTCTCTCTGGGGCTCTGTCCCCCTCTCTCTCTGGTC TCTGTTCCCCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTC CCTCTCTCTCTGGATCTCTGTCCCCCTCTC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	3/5			chr19	TogoVar
KLK7_chr19_50971468_50988917	50981325	G G	GGGAACAG others(553): Show GGGAACAGAGATCCAGAGAGAAAGGCAGACAGAGACCCAGAGAGAGGGGG ACAGAGCCCCAGGGAGAGGGGGTACAGAGGCCCAGGGAGAGGGGGACAGA GATCCAGAGAGAGAGGGACAGAGACCCAGAGAGAGAGGGACAGAGACCCA GAGAGAGGGGAACAGAGACCAGAGAGAGAGGGGGACAGAGCCCCAGAGAG AGGAAGACAGAGAGCCAGGGAGAGAGGGGGACAGAGCCCCAGGGAGAGGG GGACAGAGATCCAGAGAGAGAGGAGGGGGAACAGAGACCAGAGAGAGAGG GGAACAGAGACCCAGAGAGAGAGGGACAGAGACCCACAGAGAGAGGAGGG GGAACAGAGACCAGAGAGAGAGGGTGACAGAGACCCAGAGAGAGAGGGTG ACAGAGACCCAGAGAGAGAGGGACAGAGACCAGAGAGAGAGGAGGGGGAA CAGAGACCAGAGAGAGAGGGGGACAGAGACCCAGAGAGAGAGGGACAGAG ACCCAGAAAGAGAGGAGGGGGAACAGAGACCCAGAGAGAGAGGGGGACAG AGACACAGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0131 a0001c0001t0006g0131	1	384	0.0026	560	c.221 others(575): Show c.221+441_221+442insTCTCTGTGTCTCTGTCCCCCTCTCTCTCTG GGTCTCTGTTCCCCCTCCTCTCTTTCTGGGTCTCTGTCCCTCTCTCTCTG GGTCTCTGTCCCCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTCT GGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCACCCTCTCTCTCTGGGTC TCTGTCACCCTCTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTGTGGGT CTCTGTCCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTCTGGTCTCTG TTCCCCCTCCTCTCTCTCTGGATCTCTGTCCCCCTCTCCCTGGGGCTCTG TCCCCCTCTCTCCCTGGCTCTCTGTCTTCCTCTCTCTGGGGCTCTGTCCC CCTCTCTCTCTGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCTCTCT CTCTGGGTCTCTGTCCCTCTCTCTCTGGATCTCTGTCCCCCTCTCCCTGG GCCTCTGTACCCCCTCTCCCTGGGGCTCTGTCCCCCTCTCTCTGGGTCTC TGTCTGCCTTTCTCTCTGGATCTCTGTTCC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	3/5			chr19	TogoVar
KLK7_chr19_50971468_50988917	50981391	A A	AGGGGGTA others(553): Show AGGGGGTACAGAGGCCCAGGGAGAGGGGGACAGAGATCCAGAGAGAGAGG GACAGAGACCCAGAGAGAGAGGGACAGAGACCCAGAGAGAGGGGAACAGA GACCAGAGAGAGAGGGGGACAGAGCCCCAGAGAGAGGAAGACAGAGAGCC AGGGAGAGAGGGGGACAGAGCCCCAGGGAGAGGGGGACAGAGATCCGGAG AGAGAGGAGGGGGAACAGAGACCAGAGAGAGAGGGGAACAGAGACCCAGA GAGAGAGGGACAGAGACCCACAGAGAGAGGAGGGGGAACAGAGACCAGAG AGAGAGGGTGACAGAGACCCAGAGAGAGAGGGTGACAGAGACCCAGAGAG AGAGGGACAGAGACCAGAGAGAGAGGAGGGGGAACAGAGACCAGAGAGAG AGGGGGACAGAGACCCAGAGAGAGAGGGACAGAGACCCAGAAAGAGAGGA GGGGGAACAGAGACCCAGAGAGAGAGGGGGACAGAGACACAGAGGGGAAC AGAGATCCAGAGAGAAAGGCAGACAGAGACCCAGAGAGGGGGGACAGAGC CCCAGGGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	384	0.0026	560	c.221 others(575): Show c.221+375_221+376insCTCTCCCTGGGGCTCTGTCCCCCCTCTCTG GGTCTCTGTCTGCCTTTCTCTCTGGATCTCTGTTCCCCTCTGTGTCTCTG TCCCCCTCTCTCTCTGGGTCTCTGTTCCCCCTCCTCTCTTTCTGGGTCTC TGTCCCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGTCTCTGTTC CCCCTCCTCTCTCTCTGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCAC CCTCTCTCTCTGGGTCTCTGTCACCCTCTCTCTCTGGTCTCTGTTCCCCC TCCTCTCTCTGTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTTCCCCT CTCTCTCTGGTCTCTGTTCCCCCTCCTCTCTCTCCGGATCTCTGTCCCCC TCTCCCTGGGGCTCTGTCCCCCTCTCTCCCTGGCTCTCTGTCTTCCTCTC TCTGGGGCTCTGTCCCCCTCTCTCTCTGGTCTCTGTTCCCCTCTCTCTGG GTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGATCTCT GTCCCCCTCTCCCTGGGCCTCTGTACCCCC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	3/5			chr19	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TATATAAA others(553): Show TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATTT ATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTAT GTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTAT TTATATATATTTATATATTTATATGTATTTATACATATATATTTATATGT ATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTATTTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18971.hp1 HG04199.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0119 a0002c0002t0001g0031 a0001c0001t0001g0119 a0002c0002t0001g0031	2	260	0.0077	560	c.125 others(577): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124506965	C C	CGGGTAGA others(553): Show CGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGCAG GGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAG GGTAGACAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGG ATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGGGGGGTA GGGAGGATTTCAGGTGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGG CAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGATAGGG AAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGG AGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGGGGGGTAGGGAGG ATTTCAGGTGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGGAT TTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATT TCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0246 a0001c0001t0001g0247	2	260	0.0077	560	c.624 others(577): Show c.624+8882_624+8883insGCAGGGGTAGACAGGATTTCAGGTCGGG GGGTTAGAGAGGATTTCAGGTGGGAGGGTAGACAGGATTTCAGGTCAGGG GGATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGG GTAGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGGGGGGTTA GAGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAG ACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTAGAC AGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGGGGGGTTAGAGAGG ATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGA TTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGAGGGGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(553): Show TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACC CTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCGCACTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACC CACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACA CCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTC	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0258 a0001c0002t0004g0258	1	290	0.0035	560	c.129 others(579): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCACTTACAC CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(553): Show TATAATATAATATAATTATATAATATATAATTTATATATAATTATATATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATTATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATAATATATAATTTATATATAAT ATAATTATATAATATATAATTTATATATAATATAAATTATATAATATATA AATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	288	0.0035	560	c.-31 others(571): Show c.-3142_-3141insTATATATAATTTATATATTATATAATTTATATTA TATATAAATTATATATTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATAATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATATATAATTATATATAAATTA TATATTATATAATTATATTATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(553): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTGTATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATAATTATATATTATATAATATATAATTATATTATATA TTATAATACATTTAATATAATTATATTATAGATTATAATCTATAATATAA TTATATTAATAGTATTATAATATATAATATATTATATATAATTATATTAT AACATATTATATATAATTATATTATAGATCATAATCTATAATATACTTAT ATATAATATGTTATAATATATAATTATATTCTATATATAATTATATATAA TATAATTATATTCTATATAGAATATAATTATATATAATTATATTCTATAT AGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	288	0.0035	560	c.-32 others(571): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTCTATATAGAATATAATTATATTATATATAATTATATATAGAAT ATAATTATATATTATAACATATTATATATAAGTATATTATAGATTATGAT CTATAATATAATTATATATAATATGTTATAATATAATTATATATAATATA TTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAAATGTATTATAATATATAATATAATTATATATTAT ATAATATATAATTATAATTATATATTATATAATATATAATATAATTATAT ATTATATAATATATAATATAATTATATATTATATAATATATTTAATATAA TTATATACAATATAATTATATTATATAATTATATTATAATTATATAATAT AGAATATAATTATATATTATATAATTATATTCTATATAGAATATAATTAT ATATTATATAATTATATTATATAGAATATAATTATATATTATATAATTAT ATTCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(553): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATATATTCA TATATATATTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0070 a0001c0001t0012g0070	1	191	0.0052	560	c.343 others(577): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATCTATATATGAATATATATATGAATCTATATATGAATATATATGAATCT ATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MELTF_chr3_196996740_197034817	197000641	A A	ATGTGCCA others(553): Show ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTG TGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGC CAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAA GCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCA CTGTGCAGTGTTTTGTGTCTTAGTCTCTATGCCGTGTGCCAAGCACTGTG CTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTG AGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGT GTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTT TTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTTTTG TGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGT CTTAGACTCTATGCCGTGTGCCAAGCACTGTGCAGTGTTTTGTGTCTTAG TCTCTATGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	420	0.0024	560	c.27 others(571): Show c.2730_*2731insCGGCATAGAGACTAAGACACAAAACACTGCACAG TGCTTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGC TTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTG GCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCA CACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACAC GGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACGGC ATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACGGCATA GAGACTAAGACACAAAACACTGCACAGTGCTTGGCACACGGCATAGAGTC TAAGACACAAAACACTCAGCACAGTGCTTGGCACACGGCATAGAGTCTAA GACACAAAACACTCAGCACAGTGCTTGGCACACGGCATAGAGTCTAAGAC ACAAAACACTCAGCACAGTGCTTGGCACACGGCATAGAGTCTAAGACACA AAACACTCAGCACAGTGCTTGGCACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1098		chr3	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(553): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTG TGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTG TGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGT GGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTG TGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0260 a0010c0019t0001g0260	1	360	0.0028	560	c.57+ others(577): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGG GGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGG GGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(553): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAG TGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTG TGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGT GGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTG TGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	360	0.0028	560	c.57+ others(577): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGG GTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGG GGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(553): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGG CCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGGT CGGCCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCA GCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	256	0.0039	560	c.241 others(579): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGGCCGACCCCCCCCACACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(553): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGC GTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGG GCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGT GTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAG GGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGC GTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGT GGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGG AGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGCG TGGAGGGGGGC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0305 a0001c0008t0001g0305	1	388	0.0026	560	c.159 others(577): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAG GAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGG AGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGT GGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCG CGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTG GGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATG GGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(553): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	364	0.0028	560	c.394 others(575): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(553): Show ATATATATATGTTCATATATATATTCATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	364	0.0028	560	c.394 others(575): Show c.394-662_394-661insTATATATATGTTCATATATATATTCATATA TATGTTCATATATATTCATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATGTTCATATATATATGTT CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(553): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	364	0.0028	560	c.394 others(575): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTTCATATATATATGTTCATATATATGTT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589033	A A	ATATATAT others(553): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	364	0.0028	560	c.394 others(575): Show c.394-610_394-609insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(553): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0184 a0002c0002t0002g0184	1	364	0.0028	560	c.394 others(575): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(553): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0179 a0002c0017t0002g0179	1	364	0.0028	560	c.394 others(575): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(553): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0196	1	364	0.0028	560	c.394 others(575): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(553): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0002 a0017c0025t0002	a0017c0025t0002g0277 a0017c0025t0002g0277	1	364	0.0028	560	c.394 others(575): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATA TATATATTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(553): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0296 a0002c0002t0002g0296	1	364	0.0028	560	c.394 others(575): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(553): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGC GGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTG GTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGT AGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	384	0.0026	560	c.160 others(577): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCAC CACCACCATCGCCGCCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCACCGCC GCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCACCACC ACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGC CACCACCACCACCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169771253	A A	ATTTATAT others(553): Show ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATGTTTATATATCATAAATATAAAAAAT TATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATA TAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATAT CATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGT TTATATATCATAAATATATAAAAATTTATGTTTATATATCATAAATATAT AAAAATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	350	0.0029	560	c.-22 others(571): Show c.-2241_-2240insTTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATGTTTATATATC ATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTT TATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAAAAA ATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAA TATAAAAAATTATGTTTATATATCATAAATATATAAAAATTTATGTTTAT ATATCATAAATATATAAAAATTTATG	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2142		chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158648547	G G	GCAAATGG others(553): Show GCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAATGGAC TACAACCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCAGG CCAAATGGACTACAACCAGGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	378	0.0027	560	c.307 others(579): Show c.3076-1985_3076-1984insGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCCTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGCCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTGG TTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648759	C C	CAACCACG others(553): Show CAACCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCAGGCCAAATGGACTACAACCAGGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAATCACGGCAAATGGACTA CAACCACACCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	378	0.0027	560	c.307 others(579): Show c.3075+2072_3075+2073insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGTGTGGTTGTAGTCCATTTGCCGT GATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCCTGGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648759	C C	CAACCACG others(553): Show CAACCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTA CAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCAGGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAATCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGC AAATGGACTAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	378	0.0027	560	c.307 others(579): Show c.3075+2072_3075+2073insATAGTCCATTTGCCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648759	C C	CAACCACG others(553): Show CAACCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGC AAATGGACTACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTA CAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCAGGCCAAATGGACTACAACCAGGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGGCAAATGGACTACAACCACGCCAAATGGACTATAACCACGCC AAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGCCAAATGGATTATAACCACGCCAAATGGACTATAACCACGGC AAATGGACTATAACCACGCCAAATGGACTACAATCACGGCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGC AAATGGACTAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0213 a0010c0021t0001g0213	1	378	0.0027	560	c.307 others(579): Show c.3075+2072_3075+2073insATAGTCCATTTGCCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGT GATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGTGGTTATAGTC CATTTGGCGTGGTTATAATCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGGTTGTAGTC CATTTGGCCTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648827	C C	CCAAATGG others(553): Show CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCAGGCCAAATGGACTACAACCAGGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG GCAAATGGACTACAACCACGCCAAATGGACTATAACCACGCCAAATGGAC TATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACG CCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGAC TATAACCACGCCAAATGGACTATAACCACGGCAAATGGACTATAACCATG CCAAATGGACTACAATCACGGCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGGCAAATGGACTATAACCACG CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAATGGAC TATAACCACGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	378	0.0027	560	c.307 others(579): Show c.3075+2004_3075+2005insCCGTGGTTATAGTCCATTTGGCGTGG TTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCA TTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGCCGTGATTGTAGTCCATTTGGCATGGTTATAGTCCA TTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGG TTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCA TTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGG TTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGG TTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79532183	A A	ACCCCCCG others(553): Show ACCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0012 a0002c0036t0012	a0002c0036t0012g0010 a0002c0036t0012g0010	1	322	0.0031	560	c.46 others(571): Show c.4606_*4607insCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2861		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532183	A A	ACCCCTCG others(553): Show ACCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0271 a0001c0015t0010g0271	1	322	0.0031	560	c.46 others(571): Show c.4606_*4607insCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2861		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532211	C C	CTGCAGCC others(553): Show CTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	322	0.0031	560	c.46 others(571): Show c.4634_*4635insTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2889		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532308	C C	CCGGCAGA others(553): Show CCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT CCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT CCCCCGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0067 a0001c0015t0002g0067	1	322	0.0031	560	c.47 others(571): Show c.4731_*4732insCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGTCCCCCGCCCCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2986		chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656359	A A	AAGCCCAC others(553): Show AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCT CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCC ACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGCAGCC CACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCCTGCAG CCCACCTTCTCTCTGAAACCCACCTCTTCCCTGAAGCCCACCTTCTCCTG CAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTC CTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTT CTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACC TTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCA CCTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18747.hp1 HG02165.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0232 a0002c0002t0002g0216 a0002c0002t0002g0232	2	366	0.0055	560	c.-16 others(581): Show c.-163-18183_-163-18182insCTTCCCTGAAGCCCACCTTCTCCT GCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCT CCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCT TCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCAC CTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCC ACCTTCTCCTGCAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAACCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTT CCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCT TCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCAC CTTCTCCTGCAGCCCACCTTCTCCTGCAGCCCACCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851573	A A	AGGCTGCG others(553): Show AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0099 a0001c0006t0001g0099	1	424	0.0024	560	c.-65 others(575): Show c.-65-404_-65-403insAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACG AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCTCC others(553): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCGCCCCTCCCCTCCCCTCCCCCCC TCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCC TCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0016 a0000c0004t0016	a0000c0004t0016g0220 a0000c0004t0016g0220	1	350	0.0029	560	c.55 others(571): Show c.5595_*5596insCCCCTCCCCTCCCCCTCCCCTCCCCCGCCCCTCC CCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCT CCCCTCCCCCTCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(553): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAG TCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	356	0.0028	560	c.91+ others(573): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149004	C C	CACACCAC others(553): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	294	0.0034	560	c.901 others(575): Show c.901+109_901+110insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150483	C C	CGCCGCCT others(553): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	294	0.0034	560	c.902 others(575): Show c.902-490_902-489insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(553): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01978.hp1 HG01981.hp1 others(4): Show HG01928.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0011 a0001c0063 others(2): Show a0001c0001 a0001c0011 a0001c0063 a0003c0015 a0011c0051	a0001c0001t0001 a0001c0011t0001 a0001c0063t0010 others(2): Show a0001c0001t0001 a0001c0011t0001 a0001c0063t0010 a0003c0015t0001 a0011c0051t0001	a0001c0001t0001g0267 a0001c0011t0001g0264 a0001c0011t0001g0266 others(4): Show a0001c0001t0001g0267 a0001c0011t0001g0264 a0001c0011t0001g0266 a0001c0063t0010g0268 a0003c0015t0001g0191 a0003c0015t0001g0265 a0011c0051t0001g0269	7	324	0.0216	560	c.140 others(577): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(553): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGACAGGGAGA GGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGA GGGGAGGGGGAGAGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGG GGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGA GGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGAT GGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGATGGGGGAGGGAG AGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAG AGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAG AGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0023 a0001c0006t0014g0024 a0001c0006t0014g0023 a0001c0006t0014g0024	2	386	0.0052	560	c.92 others(571): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCT CCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCC CTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCC CTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTC CCTCTCTCTCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCC CTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCC CCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCC CTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(553): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGA GAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGG AGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGGGAGGGAGAGGGAGAG AGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAG AGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0284 a0001c0005t0003g0284	1	386	0.0026	560	c.92 others(571): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCA TCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCTCCC TCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCC TCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTC TCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCTCT CTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCT CTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCTCC CTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCC CCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCC CTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
PDCD6_chr5_266646_319974	309566	T T	TGTCCCCG others(553): Show TGTCCCCGTGTACCCCAGTGATGGCCGCCATCCCCGTGCACCCCAGTGAT GGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCC AGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTG CACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTC CCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTG AGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACC CCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCG TGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCG TCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGG CCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAG TGATGGCCGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0273 a0001c0001t0005g0273	1	360	0.0028	560	c.368 others(577): Show c.368-1718_368-1717insTACCCCAGTGATGGCCGCCATCCCCGTG CACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTC CCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTG ATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACC CCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCG TGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCG TCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGG CCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAG TGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCA CCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCC CGTGCACCCCAGTGATGGCCGCCGTCCCCGTG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309587	T T	TGGCCGCC others(553): Show TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGT CCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGC CGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGT GAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03927.hp2 HG02148.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0214 a0001c0001t0001g0223	2	360	0.0056	560	c.368 others(577): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGC ACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCC CCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCG CCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGA TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309747	C C	CCCAGTGA others(553): Show CCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCC CCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCG CCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGA GGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCC CAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGT CCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	360	0.0028	560	c.368 others(577): Show c.368-1539_368-1538insGGGCCGCCGTCCCCGTGCACCCCAGTGA TGGCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGT CCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGC CGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGT GAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCAC CCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACACCAGTGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLCL2_chr3_16879955_17095604	17063232	C C	CCCTGCCT others(553): Show CCCTGCCTTCCTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT TCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	250	0.0040	560	c.309 others(579): Show c.3095-4721_3095-4720insGCCTTCCTTCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGTGAG others(553): Show TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTG AGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAG TGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGAGTGAG TGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	398	0.0025	560	c.194 others(577): Show c.1949+186_1949+187insTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCTCACTCACTCACTCACTCACTCACTCTCTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTC ACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCACTC ACTCACTCTCTCACTCACTCACTCTCACTCACTCACTCACTCTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTC ACTCACTCACTCTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACACTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(553): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTT CTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCT TTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC TCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCTCT CCTCCCCTTCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	312	0.0032	560	c.306 others(579): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC TCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTCCTCTCCTTCTCTCCTCCCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)