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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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
CYB5R3_chr22_42612840_42654392	42638728	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18943.hp2 HG02970.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0002g0045 a0001c0001t0001g0163 a0001c0001t0002g0045	2	360	0.0056	27	c.22- others(42): Show c.22-1883_22-1882insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	1/8			chr22	TogoVar
CYP11B1_chr8_142867357_142884825	142884713	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0006 a0001c0024t0006	a0001c0024t0006g0081 a0001c0024t0006g0081	1	428	0.0023	27	c.-49 others(38): Show c.-4901_-4900insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CYP11B1	ENSG00000160882.13	transcript	ENST00000292427.10	protein_coding		4889		chr8	TogoVar
CYP2A7_chr19_40870439_40887231	40880798	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0191 a0003c0002t0003g0191	1	398	0.0025	27	c.344 others(42): Show c.344-171_344-170insTCTCTCTCTCTCTCTCTCTCTCTCTCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP2C18_chr10_94678729_94741190	94712008	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02074.hp2 HG02132.hp1 others(6): Show HG01192.hp2 HG02074.hp2 HG02132.hp1 HG02145.hp2 HG02735.hp2 HG02895.hp1 HG02976.hp1 HG03834.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0076 a0002c0002t0004g0031 a0002c0002t0004g0082 others(5): Show a0002c0002t0003g0076 a0002c0002t0004g0031 a0002c0002t0004g0082 a0002c0002t0004g0088 a0002c0002t0004g0101 a0002c0002t0004g0102 a0002c0002t0004g0110 a0002c0002t0004g0123	9	378	0.0238	27	c.819 others(44): Show c.819+5068_819+5069insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(20): Show AATAATAATAATAATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0198 a0003c0003t0002g0198	1	410	0.0024	27	c.111 others(46): Show c.1115+3949_1115+3950insATAATAATAATCATCATCATCATCAT A	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650668	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19030.hp2 HG01175.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0045 a0001c0004t0007g0062 a0001c0004t0007g0045 a0001c0004t0007g0062	2	424	0.0047	27	c.918 others(42): Show c.918+486_918+512dupTTTCTTTCTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650672	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp2 HG02273.hp2 others(4): Show HG00597.hp1 HG02080.hp2 HG02273.hp2 NA18960.hp2 NA18987.hp2 NA18989.hp1 NA19057.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 others(1): Show a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 a0001c0004t0038	a0001c0004t0005g0058 a0001c0004t0005g0059 a0001c0004t0005g0060 others(4): Show a0001c0004t0005g0058 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0005g0072 a0001c0004t0007g0057 a0001c0004t0011g0071 a0001c0004t0038g0073	7	424	0.0165	27	c.918 others(42): Show c.918+490_918+516dupTTTCTTTCTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650676	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03704.hp1 HG03831.hp2 others(1): Show HG02683.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0066 a0001c0004t0005 a0001c0004t0011 a0001c0002t0066 a0001c0004t0005 a0001c0004t0011	a0001c0002t0066g0049 a0001c0004t0005g0055 a0001c0004t0005g0065 others(1): Show a0001c0002t0066g0049 a0001c0004t0005g0055 a0001c0004t0005g0065 a0001c0004t0011g0054	4	424	0.0094	27	c.918 others(42): Show c.918+494_918+520dupTTTCTTTCTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650780	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG02647.hp1 others(5): Show HG00438.hp1 HG01255.hp1 HG02647.hp1 HG03041.hp2 HG03453.hp1 NA18951.hp2 NA19009.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0016 a0001c0001t0002 a0001c0001t0012 a0001c0001t0016	a0001c0001t0002g0232 a0001c0001t0002g0257 a0001c0001t0002g0306 others(5): Show a0001c0001t0002g0232 a0001c0001t0002g0257 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0012g0191 a0001c0001t0016g0184 a0001c0001t0016g0209	8	424	0.0189	27	c.918 others(42): Show c.918+617_918+618insTTCTTTCTTCTTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15667141	A A	AGAAACGC others(20): Show AGAAACGCCACACCCTCCCTAGCCAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0337 a0001c0002t0001g0337	1	424	0.0024	27	c.77 others(38): Show c.7756_*7757insGAAACGCCACACCCTCCCTAGCCAGCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding		4317		chr19	TogoVar
CYP4X1_chr1_47018669_47055751	47036368	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	350	0.0029	27	c.775 others(42): Show c.775+197_775+198insATATATATATATATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11			chr1	TogoVar
CYP4Z1_chr1_47062231_47123318	47076844	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02647.hp2 HG03486.hp2 others(5): Show HG00408.hp1 HG02647.hp2 HG03486.hp2 NA18960.hp2 NA18979.hp2 NA19062.hp2 NA19070.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0102 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0243	8	318	0.0252	27	c.320 others(44): Show c.320-3761_320-3760insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYRIB_chr8_129834593_130021560	129930380	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18970.hp1 HG01496.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0002g0249 a0001c0001t0001g0194 a0001c0001t0002g0249	2	288	0.0069	27	c.-13 others(48): Show c.-136-25796_-136-25795insTATATATATATATATATATATATA TAT	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129970526	T T	TATTTTGT others(20): Show TATTTTGTATTTTTAGTATTTTTAGTAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	288	0.0035	27	c.-13 others(44): Show c.-137+390_-137+416dupTTACTAAAAATACTAAAAATACAAAAT	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYTH1_chr17_78669048_78787273	78690393	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	378	0.0027	27	c.891 others(44): Show c.891+1997_891+2023dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	11/13			chr17	TogoVar
DAB1_chr1_56989778_57429060	57207446	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02451.hp2 others(1): Show HG01884.hp1 HG02109.hp2 HG02451.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0088 a0001c0001t0002g0012 a0001c0001t0002g0029 others(1): Show a0001c0001t0001g0088 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0005g0011	4	138	0.0290	27	c.68- others(44): Show c.68-62018_68-62017insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB2IP_chr9_121646634_121790530	121751085	G G	GCTGCCCG others(20): Show GCTGCCCGGCTGCTGTGGACCTTTCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02723.hp1 others(1): Show HG02109.hp1 HG02647.hp1 HG02723.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0033 a0001c0007t0005 a0001c0007t0033	a0001c0007t0005g0010 a0001c0007t0005g0138 a0001c0007t0005g0139 others(1): Show a0001c0007t0005g0010 a0001c0007t0005g0138 a0001c0007t0005g0139 a0001c0007t0033g0137	4	224	0.0179	27	c.363 others(44): Show c.363-5901_363-5875dupCCTGCCCGGCTGCTGTGGACCTTTCCC	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH1_chr13_71432966_71872204	71553445	C C	CATATATG others(20): Show CATATATGTATATTATACATATATACAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0060 a0002c0002t0004g0060	1	102	0.0098	27	c.157 others(46): Show c.1570+3578_1570+3579insATGTATATATGTATAATATACATATA T	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71821429	A A	ATTTAAAT others(20): Show ATTTAAATTTAAATTTAAATTCTAAGAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp1 HG02055.hp1 others(25): Show HG01496.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG02683.hp2 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 NA18522.hp1 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0003c0003t0002 a0003c0003t0005 a0003c0003t0013 a0004c0004t0014	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0004g0038 a0001c0001t0004g0049 a0001c0001t0012g0021 a0001c0005t0002g0043 a0002c0002t0001g0072 a0002c0002t0001g0093 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0004g0060 a0002c0002t0004g0074 a0003c0003t0002g0005 a0003c0003t0005g0004 a0003c0003t0013g0006 a0004c0004t0014g0102	28	102	0.2745	27	c.848 others(46): Show c.848+44466_848+44492dupATCTTAGAATTTAAATTTAAATTTAA A	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86147115	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAGTATGTATATGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	166	0.0060	27	c.-15 others(38): Show c.-1506_-1505insAAAAAAAAAAAGTATGTATATGTGTGT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding		1335		chrX	TogoVar
DACH2_chrX_86143451_86837602	86254773	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	166	0.0060	27	c.488 others(48): Show c.488+105665_488+105666insTATATATATATATATATATATATA TAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86545948	C C	CATTTTCA others(20): Show CATTTTCATTTATTACTATAGATGGTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	166	0.0060	27	c.640 others(46): Show c.640+31559_640+31585dupTTTTCATTTATTACTATAGATGGTTT A	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546357	C C	CTCCTCTT others(20): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	166	0.0060	27	c.640 others(46): Show c.640+31968_640+31969insCTCTTCTTCTTCTTCTTCTTCTTCTT C	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546357	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp1 HG04199.hp1 others(10): Show HG01243.hp1 HG03225.hp1 HG04199.hp1 NA18939.hp2 NA18950.hp2 NA18959.hp1 NA18966.hp1 NA18971.hp1 NA18994.hp1 NA18995.hp1 NA19066.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0037 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0002g0155	13	166	0.0783	27	c.640 others(46): Show c.640+31987_640+32013dupTTCTTCTTCTTCTTCTTCTTCTTCTT C	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86610418	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	166	0.0060	27	c.641 others(46): Show c.641-40616_641-40615insCTTTCTTTCTTTCTTTCTTTCTTTCT T	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86667499	G G	GAGAAAGA others(20): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	166	0.0060	27	c.772 others(46): Show c.772+16334_772+16360dupGAAAGAAAGAAAGAAAGAAAGAAAGA A	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86667545	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	166	0.0060	27	c.772 others(46): Show c.772+16380_772+16381insAGAAAGAAAGAAGAAGAAAGAAAGAA A	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86705063	A A	ATATCTTA others(20): Show ATATCTTACATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp1 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0112 a0001c0001t0001g0124	2	166	0.0121	27	c.932 others(44): Show c.932-9480_932-9479insTACATATATATATATATATATCTATCT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03225.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0165	4	166	0.0241	27	c.932 others(44): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAOA_chr13_105461045_105496034	105490780	T T	TAAGGTAA others(20): Show TAAGGTAAAGCAAAAAAAGTTAAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0248 a0001c0001t0007g0248	1	412	0.0024	27	c.11 others(44): Show c.112-131_*112-105dupAAGGTAAAGCAAAAAAAGTTAAAAGAA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DAO_chr12_108875092_108906043	108896419	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0297 a0001c0001t0001g0146 a0001c0001t0001g0297	2	388	0.0052	27	c.613 others(42): Show c.613-564_613-563insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCACACA others(20): Show CCCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0117 a0002c0003t0003g0117	1	236	0.0042	27	c.63- others(44): Show c.63-33457_63-33456insCCACACACACACACACACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK2_chr15_63902036_64051485	64046355	C C	CGCGGCGG others(20): Show CGCGGCGGGAGCGGCGGGCGCGGCGGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp2 others(9): Show HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01884.hp1 HG02683.hp1 HG02698.hp2 HG03654.hp1 HG03669.hp1 HG04184.hp1 HG04199.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 a0001c0004t0004	a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 others(9): Show a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0005g0034 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0028g0029 a0001c0004t0004g0035	12	214	0.0561	27	c.-65 others(34): Show c.-65_-64insTCCCGCCGCGCCCGCCGCTCCCGCCGC	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	1/12	6095		chr15	TogoVar
DAZL_chr3_16581792_16610423	16604769	C C	CGGGGCGG others(20): Show CGGGGCGGAGGCGCGTGGGAGTGGGGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19002.hp2 NA18964.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0055 a0001c0001t0012g0055	2	446	0.0045	27	c.3+4 others(38): Show c.3+407_3+433dupTCCCCCACTCCCACGCGCCTCCGCCCC	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding	1/10			chr3	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01515.hp1 HG01517.hp1 HG01069.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0036 a0001c0001t0002g0052 a0001c0001t0002g0053	3	288	0.0104	27	c.225 others(44): Show c.225+2682_225+2683insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	412	0.0024	27	c.32- others(42): Show c.32-3833_32-3832insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3			chr16	TogoVar
DCAF10_chr9_37795797_37872664	37808524	T T	TAAATATA others(20): Show TAAATATATAAAACATATATTTATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0039 a0001c0001t0063g0039	1	356	0.0028	27	c.539 others(44): Show c.539+7119_539+7120insAAATATATAAAACATATATTTATATAA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6			chr9	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CTATATAT others(20): Show CTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	244	0.0041	27	c.665 others(46): Show c.665+10451_665+10452insATATATATATATATATATATATATAT A	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF5_chr14_69045881_69158119	69105944	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01106.hp1 others(4): Show HG00099.hp2 HG01081.hp2 HG01106.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0017 a0001c0001t0004 a0001c0002t0001 a0001c0002t0017	a0001c0001t0004g0181 a0001c0002t0001g0149 a0001c0002t0001g0151 others(4): Show a0001c0001t0004g0181 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0017g0146	7	244	0.0287	27	c.665 others(46): Show c.665+10421_665+10422insTATATATATATATATATATATATATA T	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(20): Show AAAAGAAAGAAAGAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0083 a0001c0002t0004g0083	1	330	0.0030	27	c.433 others(46): Show c.433+10802_433+10803insCTTTCTTCTTTCTTTCTTTCTTTCTT T	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02895.hp1 HG00099.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0008 a0002c0001t0001 a0001c0003t0008 a0002c0001t0001	a0001c0003t0008g0013 a0002c0001t0001g0022 a0001c0003t0008g0013 a0002c0001t0001g0022	2	114	0.0175	27	c.91+ others(46): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAAAAA A	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52879412	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0006 a0001c0002t0006g0006	1	114	0.0088	27	c.413 others(46): Show c.413-26629_413-26603dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53090698	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0067 a0002c0001t0001g0067	1	114	0.0088	27	c.126 others(48): Show c.1261+24542_1261+24568dupAAAAAAAAAAAAAAAAAAAAAAAA AAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53148865	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0100 a0001c0003t0012g0100	1	114	0.0088	27	c.126 others(46): Show c.1262-8474_1262-8473insTTTTTTTTTTTTTTTTTTTTTTTTTT T	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0035 a0001c0007t0003g0035	1	114	0.0088	27	c.191 others(48): Show c.1911+11352_1911+11353insATATATATATATATATTTTTTTTT TTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG03130.hp2 HG01433.hp1 HG01496.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0004 a0001c0007 a0002c0004	a0001c0007t0003 a0002c0004t0013 a0001c0007t0003 a0002c0004t0013	a0001c0007t0003g0025 a0001c0007t0003g0026 a0002c0004t0013g0042 a0001c0007t0003g0025 a0001c0007t0003g0026 a0002c0004t0013g0042	3	114	0.0263	27	c.191 others(48): Show c.1911+11352_1911+11353insATATATATATATATTTTTTTTTTT TTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300986	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0088 a0002c0001t0005g0088	1	114	0.0088	27	c.191 others(46): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTCTT T	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53427936	T T	TAATATAT others(20): Show TAATATATTATAATATATAATATAATAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0088 a0002c0001t0005g0088	1	114	0.0088	27	c.316 others(46): Show c.3164-7207_3164-7181dupAATATATTATAATATATAATATAATA A	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCK_chr4_70988649_71035914	71004906	G G	GGGATCTG others(20): Show GGGATCTGCTGAGCAAGACCACTTGGCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0184 a0002c0002t0002g0184	1	282	0.0036	27	c.207 others(44): Show c.207+6725_207+6751dupGGATCTGCTGAGCAAGACCACTTGGCT	DCK	ENSG00000156136.10	transcript	ENST00000286648.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0228 a0001c0001t0008g0228	1	230	0.0044	27	c.103 others(46): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT T	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar

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Search Results (Total: 7463 hits)