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
RNF213_chr17_80255852_80403794	80274585	T T	TGTGGGGG others(412): Show TGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGA GGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGG GTGAGTGGGGTGAGTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0089 a0089	a0089c0115 a0089c0115	a0089c0115t0006 a0089c0115t0006	a0089c0115t0006g0035 a0089c0115t0006g0035	1	292	0.0034	419	c.261 others(436): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGTGGGGTGTCTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTG GGGTGAGTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGGGGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274638	T T	TGAGTGGG others(412): Show TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGG GGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGTGAGTGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02572.hp2 others(1): Show HG01243.hp2 HG02559.hp2 HG02572.hp2 NA19240.hp1	a0015 a0018 a0098 others(1): Show a0015 a0018 a0098 a0101	a0015c0018 a0018c0108 a0098c0109 others(1): Show a0015c0018 a0018c0108 a0098c0109 a0101c0111	a0015c0018t0022 a0018c0108t0006 a0098c0109t0064 others(1): Show a0015c0018t0022 a0018c0108t0006 a0098c0109t0064 a0101c0111t0027	a0015c0018t0022g0085 a0018c0108t0006g0083 a0098c0109t0064g0084 others(1): Show a0015c0018t0022g0085 a0018c0108t0006g0083 a0098c0109t0064g0084 a0101c0111t0027g0082	4	292	0.0137	419	c.261 others(436): Show c.261+1235_261+1236insAGTGGGGTGAGTGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAA TGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGG GGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGA GTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	308	0.0033	419	c.-75 others(438): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATAT ATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 NA19060.hp2 HG02922.hp1 HG03130.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0230 a0001c0001t0001g0286 a0001c0001t0001g0287	3	308	0.0097	419	c.-75 others(438): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATAT ATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(412): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTG TGCGGCCGAGTCCTCACCCTGTCCCCTGTGCGGCCCTCACCCCGTCCCCT CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	196	0.0051	419	c.394 others(436): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTGT GCGGCCGAGTCCTCACCCTGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(412): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCA CACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	408	0.0025	419	c.727 others(434): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG GGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG GGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG CATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG GCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG TGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGT CAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(412): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC TCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG GGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCCCGGGGATGCCCCA CACTCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	408	0.0025	419	c.727 others(432): Show c.727+65_727+66insAGTGGAGGGGTCAGAGAGTGTGGGGCATCCCC GGGCTGAGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTG GAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCA GAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SERINC5_chr5_80133727_80261048	80137642	C C	CAAAAAAA others(412): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGTGAGCTGGGCGCAGTGGCTCACG TCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGATGATTGCTTGAGGT CGGGAGTTTAAGACCAACCCGTGCAACATAGTGAGACCCTATCTGTATAA AAAATACAAAAATTAGCCAGGCTTGGTGTTGTAGCCTGTGGTCCCAGCTG CTCGGGAGGCTGAGGCAGGAGGATTGCTTGAGTCCAAGAAGTCAAGGCCA AAATAAGCCATGATGTCACTGTACTCCAGCCTGGGTGACAGAGTGAGACT CTGTCTCAAAAAAAGGAAAAGTGGTATATATACACAATAAAAAATTCAGC CTCAAAAAGAAGGAACTCCTGCAATATGCAACAATTTGGAGGAACGCAAG ACTCTAACTCAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0207 a0001c0001t0034g0207	1	286	0.0035	419	c.60 others(430): Show c.6020_*6021insTTTTTTTTTTGAGTTAGAGTCTTGCGTTCCTCCA AATTGTTGCATATTGCAGGAGTTCCTTCTTTTTGAGGCTGAATTTTTTAT TGTGTATATATACCACTTTTCCTTTTTTTGAGACAGAGTCTCACTCTGTC ACCCAGGCTGGAGTACAGTGACATCATGGCTTATTTTGGCCTTGACTTCT TGGACTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACCACA GGCTACAACACCAAGCCTGGCTAATTTTTGTATTTTTTATACAGATAGGG TCTCACTATGTTGCACGGGTTGGTCTTAAACTCCCGACCTCAAGCAATCA TCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCG CCCAGCTCACTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding		1084		chr5	TogoVar
SIGIRR_chr11_400716_419999	401950	C C	CCCGCTCA others(412): Show CCCGCTCACACCCGACCCGCTCACACCCCGACCCGCTCACCCCCGACCCG CTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCAC CCCGACCGACCCCGCTCCACACCGGACCCCGCTCACACCCGGCCCCGCTC ACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCC GGGCCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCCGCTCACCCCCGGC CCCGCTCACCCGCCCGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCC GCTCACCCGGGACCCCGCTCACACCCGCCCCCCGCTCACCCCGGACCCCG CTCACCCCCGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0100 a0003c0007t0001g0100	1	242	0.0041	419	c.39 others(430): Show c.3945_*3946insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAG CGGGGCCGGGGTGAGCGGGGCGGGCGGGTGAGCGGGGCCGGGGGTGAGCG GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG GCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGGCCCGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGTCCGGTGTGGAGCGGGGTCGGTCGGGGTGAGCGGGTCGGG GGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGGTGTGAGCGGGTCGGGTGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3765		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(412): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGAGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGTGGGCGGGA GGGGGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGG GGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGG GGGAGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGGGCGGGGGGGC GGGAGGGAGGGGGAGGAGGTCGGGGGGGCGGGAGGGGGAGGACGCGGGGG GGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	222	0.0045	419	c.914 others(438): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CGTCCTCCCCCTCCCGCCCCCCCGACCTCCTCCCCCTCCCTCCCGCCCCC CCGCCCCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCC GCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGC CCACCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCC GCCTCCTCCCCCTCCCGCCTCCCGCCTCCTCCCCTCCCGCCCCCCCGCCT CCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(412): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATATTATATATAAATATAAATATATTATATATTA TATAAATATAAATATATTATATATTATATAAATATAAATATATTATATAT TATATATAAATATAAATATATTATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTAATATATTATATATAATATAAA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp1 NA19240.hp2 HG02630.hp1 HG03471.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0011 a0001c0001t0005 a0002c0002t0011	a0001c0001t0005g0260 a0002c0002t0011g0250 a0002c0002t0011g0251 a0001c0001t0005g0260 a0002c0002t0011g0250 a0002c0002t0011g0251	3	346	0.0087	419	c.-70 others(436): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTTATATT ATATATAATATATTAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATAATATATTTATATTTATATATAATATATAA TATATTTATATTTATATAATATATAATATATTTATATTTATATAATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTATATATAATATATATAATATATTTAT ATTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATA ATATATTTATATTATATATAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(412): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA ATATATTATATATAATATAAATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02074.hp1 HG02300.hp1 others(5): Show HG00621.hp1 HG02074.hp1 HG02300.hp1 HG02683.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0008 a0002c0002 a0002c0007 a0002c0008	a0002c0002t0001 a0002c0002t0005 a0002c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0005 a0002c0007t0001 a0002c0008t0001	a0002c0002t0001g0321 a0002c0002t0001g0328 a0002c0002t0001g0329 others(5): Show a0002c0002t0001g0321 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0005g0088 a0002c0007t0001g0320 a0002c0008t0001g0326	8	346	0.0231	419	c.-70 others(436): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(412): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA ATATATTATATATAATATAAATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATGTTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0314 a0002c0002t0001g0314	1	346	0.0029	419	c.-70 others(436): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAACATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(412): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TATATATAATATATATATTATATAATATATATAAAAAATATATATTATAT ATAAAAAATATATATTATATAATATATATAAAAAATATATATTATATATA AAAAATATATATTATATAATATATATAAAATATATATATTATATAATATA TATATAATATATATAAAATATATATATTATATAATATATATATAATATAT ATAAAATATATATATTATATAATATATATATAATATATATAAAATATATA TATTATATAATATATATATAATATATATAAAATATATATATTATATAATA TATATATAATATATATAAAATATATATATTATATAATATATATATAATAT ATATATATAATATATATAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	190	0.0053	419	c.151 others(438): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATATATATAATATATATATTATATAATA TATATAAAAAATATATATTATATATAAAAAATATATATTATATAATATAT ATAAAAAATATATATTATATATAAAAAATATATATTATATAATATATATA AAATATATATATTATATAATATATATATAATATATATAAAATATATATAT TATATAATATATATATAATATATATAAAATATATATATTATATAATATAT ATATAATATATATAAAATATATATATTATATAATATATATATAATATATA TAAAATATATATATTATATAATATATATATAATATATATAAAATATATAT ATTATATAATATATATATAATATATATATATAATATATATAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(412): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATATTATATATATTATGTATAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATTAT ATATATTATGTATAATATATATTATATATTATATATATATTATATATATT ATGTATAATATATATTATATATTATATATATATTATATATATTATGTATA ATATATATTATATATTATATATATATTATATATATTATGTATAATATATA TTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02135.hp2 HG02129.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0047 a0001c0001t0011 a0001c0001t0047	a0001c0001t0011g0223 a0001c0001t0047g0222 a0001c0001t0011g0223 a0001c0001t0047g0222	2	310	0.0065	419	c.784 others(434): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATAATATATAATA TATATTATACATAATATATATAATATATATATAATATATAATATATATTA TACATAATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(412): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	302	0.0033	419	c.12+ others(434): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(412): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAAGGGGGAGG GGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	251	0.0040	419	c.34 others(428): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCC CTCCCCCGTTCCCGCTTCCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCC CCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTC CCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCAC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCC TCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
TFPT_chr19_54102020_54120657	54109796	C C	CCTCCACC others(412): Show CCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGC CCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTC CCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	429	0.0023	419	c.353 others(434): Show c.353+254_353+255insAGGGCTGAGCACTGGGACTGAGGGAGGGCC GGGTGGAAGGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGG CTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGGG ACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGG CCGGGTGGAAGGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAAGG GGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGGCTGTGCGCT GGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCGCTGGGACTGAGGGA GGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGA GAGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAG	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TFPT_chr19_54102020_54120657	54109796	C C	CCTCCACC others(412): Show CCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGC CCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTC CCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCTCCCTCAGTCCCAGTGCTCAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCTC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCTCAGCCCCTTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG03130.hp1 others(1): Show HG02809.hp2 HG02896.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0130 a0001c0001t0001g0030 a0001c0001t0001g0130	4	429	0.0093	419	c.353 others(434): Show c.353+254_353+255insAGGGCTGAGCACTGGGACTGAGGGAGGGCC GGGTGGAAGGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGG CTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGAGCGCTGGG ACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGG CCGGGTGGAAGGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAAGG GGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGGCTGTGCGCT GGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGA GGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGA GAGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAG	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(412): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGGATATAATAATTTCTG GGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGAT ATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGG GGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGT AATTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	419	c.-41 others(430): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGG ATATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTG GGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAG GATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATA ATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCT GGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
UHMK1_chr1_162492818_162534631	162530985	T T	TAACAGTT others(412): Show TAACAGTTTTCATTTTTTTTTTTTTTTTTCATTTTCTTTTTTTTTTTTTT TTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTT GGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGTAGATAAACAAGTG AACAAAGGTCTCTGGTTTTCCTAGCCAGAGGACCCTGCGGCCTTCCGGCC TTCCGCAGTGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGA CTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTT GCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAG AGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAG AAGAATTTTTCTTAGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	412	0.0024	419	c.84 others(430): Show c.8435_*8436insAACAGTTTTCATTTTTTTTTTTTTTTTTCATTTT CTTTTTTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCT CGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCA GTAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGCCAGAGGACCC TGCGGCCTTCCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAGATT AGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTT AACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACA CAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAAC AGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAG	UHMK1	ENSG00000152332.16	transcript	ENST00000489294.2	protein_coding		1355		chr1	TogoVar
UMAD1_chr7_7635752_7884223	7678876	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	250	0.0040	419	c.82+ others(434): Show c.82+5428_82+5429insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678876	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	250	0.0040	419	c.82+ others(434): Show c.82+5428_82+5429insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678984	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	250	0.0040	419	c.82+ others(434): Show c.82+5536_82+5537insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679011	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	250	0.0040	419	c.82+ others(434): Show c.82+5563_82+5564insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679011	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG00639.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0043 a0001c0001t0020 a0001c0001t0043	a0001c0001t0020g0026 a0001c0001t0043g0125 a0001c0001t0020g0026 a0001c0001t0043g0125	2	250	0.0080	419	c.82+ others(434): Show c.82+5563_82+5564insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679038	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19000.hp2 HG01346.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0212 a0001c0001t0001g0055 a0001c0001t0001g0212	2	250	0.0080	419	c.82+ others(434): Show c.82+5590_82+5591insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679038	T T	TATAAATA others(412): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	250	0.0040	419	c.82+ others(434): Show c.82+5590_82+5591insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42108877	G G	GCGCGGGA others(412): Show GCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGTGGG AAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCAT GTTGTACTCAGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACT CAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGG ACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACC CCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCG GGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTTCA TGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATAC TCAGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18952.hp1 NA18964.hp2 others(2): Show HG00621.hp1 NA18952.hp1 NA18964.hp2 NA18980.hp1 NA18999.hp2	a0005 a0007 a0087 a0005 a0007 a0087	a0005c0002 a0007c0043 a0087c0089 a0005c0002 a0007c0043 a0087c0089	a0005c0002t0002 a0007c0043t0017 a0087c0089t0002 a0005c0002t0002 a0007c0043t0017 a0087c0089t0002	a0005c0002t0002g0170 a0005c0002t0002g0171 a0007c0043t0017g0317 others(2): Show a0005c0002t0002g0170 a0005c0002t0002g0171 a0007c0043t0017g0317 a0007c0043t0017g0332 a0087c0089t0002g0187	5	400	0.0125	419	c.152 others(436): Show c.1520-685_1520-684insCGCGGGAAGTTCATGTTGTACTCAGGCT GACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCC ACCCCCGCGCGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCCAC GCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAA GTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGT TATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCC GCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCC CACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCG CGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(412): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATTTATATATTAT ATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATA TTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTATG TAATATATAATATTTATATATTATATTTATGTAATATATAATATTTATAT ATTATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAA TATTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTA TGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0002 a0002c0041t0002	a0002c0041t0002g0004 a0002c0041t0002g0004	1	204	0.0049	419	c.213 others(438): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATATATAAATATTATATATTACATAAATATAATATATAA ATATTATATATTACATAAATATAATATATAAATATTATATATTACATAAA TATAATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAATATATATTATATAT TACATAAATATAATATATAATATATATTATATATTACATAAATATAATAT ATAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(412): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATATTTATATATTATATTTATGTAATATATATTTATATATTATATTTATG TAATATATATTTATATATTATATTTATGTAATATATATTTATATATTATA TTTATGTAATATATATTTATATATTATATTTATGTAATATATATTTATAT ATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATATTATATTTATGTAATATATAATATATATTTATATATTATATTTA TGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0132 a0001c0006t0007g0132	1	204	0.0049	419	c.213 others(438): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA ATATATATTACATAAATATAATATATAAATATATATTACATAAATATAAT ATATAAATATATATTACATAAATATAATATATAAATATATATTACATAAA TATAATATATAAATATATATTACATAAATATAATATATAAATATATATTA CATAAATATAATATATAAATATATATTATATATTACATAAATATAATATA TAAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UROS_chr10_125783586_125828258	125824766	G G	GCCTCTGC others(412): Show GCCTCTGCTTAGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAAT CAAGAGTCTTCACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATC AGAATAAGGAAGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATG AGTCATGATGAGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGAT TAGAGGTGACACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACA AATTTTACTTTGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTT AGAACTTTGACTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCT GCTTGTGTTAACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAA ATCACCTGGGAATGAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(105): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01255.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0005c0006t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0011 others(67): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0006g0053 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0005c0006t0002g0095	108	408	0.2647	419	c.-21 others(430): Show c.-2183_-1765dupGTCCCTCATTCCCAGGTGATTTAGAATTAAGACT GTGGTGGTGTGATAGATTTCCCATGTTAACACAAGCAGCATTGATTTCTA TAACCCAAAAGTAATAAAAGAGCCAGTCAAAGTTCTAAGTGAAAAATGGT GAGATGGCATTCAAGGCATAGAGCCAAAGTAAAATTTGTAAGGGAAGGAA GATTGATCACATACCCACACCATGGTGTCACCTCTAATCCTGCATCCATG CTTCTCTCCATGCTCCCCTCCATGCTCATCATGACTCATGATTACCTCTC TGATTTTATTTCCTATCACTCTCTCTTCCTTATTCTGATCCAGCCATCTA GGCTGCCTTTCCGTCCCTCAATTGTGAAGACTCTTGATTTTCTTGTAAAT GAACTAGAAAGCCAATGCAGCAATCTAAGCAGAGG	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		1509		chr10	TogoVar
UROS_chr10_125783586_125828258	125824766	G G	GCCTCTGC others(412): Show GCCTCTGCTTAGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAAT CAAGAGTCTTCACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATC AGAATCAGGAAGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATG AGTCATGATGAGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGAT TAGAGGTGACACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACA AATTTTACTTTGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTT AGAACTTTGACTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCT GCTTGTGTTAACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAA ATCACCTGGGAATGAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	408	0.0025	419	c.-17 others(430): Show c.-1765_-1764insGTCCCTCATTCCCAGGTGATTTAGAATTAAGACT GTGGTGGTGTGATAGATTTCCCATGTTAACACAAGCAGCATTGATTTCTA TAACCCAAAAGTAATAAAAGAGCCAGTCAAAGTTCTAAGTGAAAAATGGT GAGATGGCATTCAAGGCATAGAGCCAAAGTAAAATTTGTAAGGGAAGGAA GATTGATCACATACCCACACCATGGTGTCACCTCTAATCCTGCATCCATG CTTCTCTCCATGCTCCCCTCCATGCTCATCATGACTCATGATTACCTCTC TGATTTTATTTCCTATCACTCTCTCTTCCTGATTCTGATCCAGCCATCTA GGCTGCCTTTCCGTCCCTCAATTGTGAAGACTCTTGATTTTCTTGTAAAT GAACTAGAAAGCCAATGCAGCAATCTAAGCAGAGG	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		1509		chr10	TogoVar
VCX2_chrX_8164944_8176267	8169895	C C	CCCCTCCC others(412): Show CCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCTCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	419	c.13 others(428): Show c.136_*137insAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		48		chrX	TogoVar
VPS53_chr17_503668_719839	598887	G G	GCCAGGCC others(412): Show GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGA GGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTTGGAGG GAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCTCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01099.hp2 others(7): Show HG00099.hp2 HG00280.hp2 HG01099.hp2 HG01168.hp2 HG01515.hp2 HG01981.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 NA18948.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0001 a0001c0006t0021 a0001c0006t0039 others(6): Show a0001c0006t0001 a0001c0006t0021 a0001c0006t0039 a0001c0006t0040 a0001c0006t0053 a0001c0006t0057 a0001c0006t0068 a0001c0006t0074 a0001c0016t0052	a0001c0006t0001g0113 a0001c0006t0021g0100 a0001c0006t0021g0101 others(7): Show a0001c0006t0001g0113 a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0039g0003 a0001c0006t0040g0002 a0001c0006t0053g0102 a0001c0006t0057g0103 a0001c0006t0068g0098 a0001c0006t0074g0097 a0001c0016t0052g0099	10	232	0.0431	419	c.121 others(438): Show c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGAGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCA AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(412): Show CATATATATCATATATGATACATGTATCATATATGATACATGTATCATAT ATATGATACATGTATCATATATATGATACATGTATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCATATATATGATACATATATATCAT ATATATGATACATATATATCATATATATGATACATATATATCATATATAT GATACATATATATCATATATATGATACATATATATCATATATATGATACA TATATATCATATATATGATACATATATATCATATATATGATACATATATA TCATATATATGATACATATATATCATATATATGATACATATATATCATAT ATATGATACATATATATCAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	340	0.0029	419	c.856 others(436): Show c.856+1989_856+1990insATCATATATGATACATGTATCATATATG ATACATGTATCATATATATGATACATGTATCATATATATGATACATGTAT ATCATATATATGATACATATATATCATATATATGATACATATATATCATA TATATGATACATATATATCATATATATGATACATATATATCATATATATG ATACATATATATCATATATATGATACATATATATCATATATATGATACAT ATATATCATATATATGATACATATATATCATATATATGATACATATATAT CATATATATGATACATATATATCATATATATGATACATATATATCATATA TATGATACATATATATCATATATATGATACATATATATCATATATATGAT ACATATATATCATATATATGATACATATATATCATATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(412): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTAAAAAGAGTACTCTT TTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	419	c.917 others(438): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTAAAA AGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZFPM2_chr8_105313438_105809539	105380859	A A	AACATATA others(412): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATTAATATATATGTTATAT ATATTATAATATATATAACATTAATATATATGTTATATATATTATAATAT ATATAACATTAATATATATGTTATATATATTATAATATATATAACATATA ATATATATGTTATATATATTATAATATATATAACATATAATATATATGTT ATATATATTATAATATATATAACATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAATATATAATATA TATGTTATATATATTATAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	92	0.0109	419	c.41- others(436): Show c.41-38284_41-38283insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATTAATATATATGTTATATATATTATAATATATATAACATTAATATATA TGTTATATATATTATAATATATATAACATTAATATATATGTTATATATAT TATAATATATATAACATATAATATATATGTTATATATATTATAATATATA TAACATATAATATATATGTTATATATATTATAATATATATAACATATAAT ATATATGTTATATATATTATAATATATATAACATATAATATATATGTTAT ATATATTATAATATATATAACATATAATATATATGTTATATATATTATAA TATATATAATATATAATATATATGTTATATATATTATAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFYVE28_chr4_2264597_2423645	2336965	T T	TGGTGAGG others(412): Show TGGTGAGGAGTGAGGAGGTGAGGAGTGAGAATGTGAGAAATAAGGAGCTA AGGAGTAAGGAGGTGAGGAGTAAGGAGGTGAGGAATGATGAGGTGAGGAG TGAGGAGGTGAGGAGGTGAGGAGTGAGGAGATGAGGAGGTGAGGAGTGAG GAGATGAGGAGGTGAGGAGTGAGGAGATGAGGAGGTGAGGAGGTGTGGAT TGAGGAGGTGAGGAGTGAGGAGGTGAGGAGTGAGAAGGTGAGGAGGGAAG AGGTGAAGAGTGAGGAGGTGAGGTGAGGAGTTAGGAGGTGGGGAAGTGAG GAGGTGAGTGAGGAGGTGAGGAGTGAGGGGGTGAGGAGTTAGGTGGTGAG GAGTGAGGAGGTGAGGAGTTAGGAGGTGGGGAAGTGAGGAGGTGAGGAGT GAGGGGGTGAGGAGTTAGGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0086 a0008c0021t0001g0086	1	290	0.0035	419	c.611 others(434): Show c.611+441_611+442insTCCTAACTCCTCACCCCCTCACTCCTCACC TCCTCACTTCCCCACCTCCTAACTCCTCACCTCCTCACTCCTCACCACCT AACTCCTCACCCCCTCACTCCTCACCTCCTCACTCACCTCCTCACTTCCC CACCTCCTAACTCCTCACCTCACCTCCTCACTCTTCACCTCTTCCCTCCT CACCTTCTCACTCCTCACCTCCTCACTCCTCACCTCCTCAATCCACACCT CCTCACCTCCTCATCTCCTCACTCCTCACCTCCTCATCTCCTCACTCCTC ACCTCCTCATCTCCTCACTCCTCACCTCCTCACCTCCTCACTCCTCACCT CATCATTCCTCACCTCCTTACTCCTCACCTCCTTACTCCTTAGCTCCTTA TTTCTCACATTCTCACTCCTCACCTCCTCACTCCTCACC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	5/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(412): Show CATCATATACATCATATATGATATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TACATCATATATCACACATATGATATACATCATATATCACACATATGATA TATATCATATATCACACATATGATATATATCATATATCACACATATGATA TATATCATACATATCACATATATCATATATATCATACATATCACATATAT CATATATATCATACATATCACATATATCATATATATCATACATATCACAT ATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	419	c.-36 others(430): Show c.-3690_-3689insATCATATACATCATATATGATATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATACATCATATATCACACATATGATATACATCATAT ATCACACATATGATATATATCATATATCACACATATGATATATATCATAT ATCACACATATGATATATATCATACATATCACATATATCATATATATCAT ACATATCACATATATCATATATATCATACATATCACATATATCATATATA TCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(412): Show CATCATATACATCATATATGATATATACATCATATATCACACATATGATA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATATATCATATATCACACATATGATATATATCATATATCACACATATGA TATATATCATATATCACACATATGATATATATCATACATATCACATATAT CATATATATCATACATATCACATATATCATATATATCATACATATCACAT ATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	350	0.0029	419	c.-36 others(430): Show c.-3690_-3689insATCATATACATCATATATGATATATACATCATAT ATCACACATATGATATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATATATCATATATCACACATATGATATATATCAT ATATCACACATATGATATATATCATATATCACACATATGATATATATCAT ACATATCACATATATCATATATATCATACATATCACATATATCATATATA TCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(412): Show CATCATATACATCATATACGATATATACATCATATATCACACATATGATA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATACATCATATATCACACATATGATATACATCATATATCACACATATGA TATATATCATATATCACACATATGATATATATCATACATATCACATATAT CATATATATCATACATATCACATATATCATATATATCATACATATCACAT ATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	419	c.-36 others(430): Show c.-3663_-3662insATCATATACATCATATACGATATATACATCATAT ATCACACATATGATATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATACATCATATATCACACATATGATATACATCAT ATATCACACATATGATATATATCATATATCACACATATGATATATATCAT ACATATCACATATATCATATATATCATACATATCACATATATCATATATA TCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(413): Show ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAA ATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATAT AAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATAT ATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTAT AGATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	306	0.0033	420	c.130 others(439): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATA TTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(413): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATC AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATA TTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0240 a0001c0001t0010g0240	1	306	0.0033	420	c.130 others(439): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTGATAT ATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1072355	G G	GTGCCGCC others(413): Show GTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGT GAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGA GGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCG TGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGG GACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCC GCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAG AAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGAC CTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGT GAGAGAAGGGGACGAGGGACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02074.hp1 HG03688.hp2 others(2): Show HG01243.hp1 HG02074.hp1 HG03688.hp2 HG03927.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0001t0001 a0001c0001t0002 a0001c0001t0032	a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0230 others(2): Show a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0002g0179 a0001c0001t0032g0259	5	337	0.0148	420	c.894 others(435): Show c.894+258_894+259insGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGT CCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACAC ACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCC CTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCT CACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCA GGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCT TCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288563	T T	TCCGTCCC others(413): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	295	0.0034	420	c.50 others(431): Show c.5000_*5001insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGACACGGGGGACGGAGCAGGGACACGGGACGGGGCAGACA CGGGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3827		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289515	G G	GTCTCTGC others(413): Show GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	295	0.0034	420	c.40 others(431): Show c.4048_*4049insGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2875		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(413): Show GGAGGGAGAGGGAGACGGAGAGGGAGAGGGAGACGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0025 a0004c0010t0025	a0004c0010t0025g0020 a0004c0010t0025g0020	1	354	0.0028	420	c.523 others(439): Show c.523-13463_523-13462insAGAGGGAGACGGAGAGGGAGAGGGAG ACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(413): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0326 a0005c0008t0003g0326	1	354	0.0028	420	c.523 others(439): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(413): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGGA GGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA GGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAA GGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0005 a0001c0047t0005	a0001c0047t0005g0209 a0001c0047t0005g0209	1	228	0.0044	420	c.259 others(441): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCC TTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar

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Search Results (Total: 10000 hits)