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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CYP3A5_chr7_99643194_99684996	99652770	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG02055.hp2 HG02257.hp1 HG02486.hp1 others(11): Show HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0014 a0002c0003t0001g0046 others(3): Show a0002c0003t0001g0002 a0002c0003t0001g0014 a0002c0003t0001g0046 a0002c0003t0001g0058 a0002c0003t0001g0193 a0002c0003t0001g0195	14	292	0.0480	1	c.103 others(5): Show c.1035dupT	p.Thr others(5): Show p.Thr346fs	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	11/13	1135/1720	1035/1509	345/502		chr7	TogoVar
CYP46A1_chr14_99679298_99732301	99691106	TTTTGGAA others(6): Show TTTTGGAAAAAGGA	T T	frameshift_variant frameshift_variant	HIGH	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0184 a0003c0003t0003g0184	1	374	0.0027	-13	c.147 others(20): Show c.147_159delTTGGAAAAAGGAT	p.Phe others(4): Show p.Phe49fs	CYP46A1	ENSG00000036530.9	transcript	ENST00000261835.8	protein_coding	2/15	267/2197	147/1503	49/500	INFO_REALIGN_3_PRIME	chr14	TogoVar
CYP4A22_chr1_47132441_47154727	47144551	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00408.hp2 HG02080.hp1 others(12): Show HG00280.hp1 HG00408.hp2 HG02080.hp1 HG02132.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18995.hp1 NA19007.hp1 NA19055.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0008 a0006c0007t0004g0010 a0006c0007t0004g0008 a0006c0007t0004g0010	15	440	0.0341	-1	c.901 others(4): Show c.901delG	p.Glu others(5): Show p.Glu301fs	CYP4A22	ENSG00000162365.13	transcript	ENST00000371891.8	protein_coding	8/12	946/2535	901/1560	301/519	INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46815074	GAT GAT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02970.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0018 a0003c0019 a0003c0003 a0003c0018 a0003c0019	a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 a0003c0019t0003	a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0103 others(37): Show a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0103 a0003c0003t0001g0113 a0003c0003t0001g0123 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0138 a0003c0003t0001g0169 a0003c0003t0001g0175 a0003c0003t0003g0007 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0121 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0215 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0018t0003g0007 a0003c0019t0003g0214	69	400	0.1725	-2	c.884 others(9): Show c.884_885delAT	p.Asp others(5): Show p.Asp295fs	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/12	920/2174	884/1539	295/512		chr1	TogoVar
CYP4F11_chr19_15907377_15939529	15929484	TGTCAGGG others(33): Show TGTCAGGGTGGCATAAAATGAGGAGGGGGAAGGTAGGACCC	T T	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG00738.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0005 a0012c0018t0005	a0012c0018t0005g0170 a0012c0018t0005g0170	1	386	0.0026	-40	c.276 others(47): Show c.276_315delGGGTCCTACCTTCCCCCTCCTCATTTTATGCCACCCTG AC	p.Gly others(4): Show p.Gly93fs	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	2/12	436/3051	276/1575	92/524		chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78272831	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.915 others(8): Show c.915_916insT	p.Leu others(5): Show p.Leu306fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	1336/2700	915/1014	305/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78272888	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	-1	c.858 others(4): Show c.858delC	p.Asn others(5): Show p.Asn287fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	1279/2700	858/1014	286/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78272973	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.773 others(4): Show c.773dupA	p.His others(5): Show p.His258fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	1194/2700	773/1014	258/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273121	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.625 others(4): Show c.625dupT	p.Tyr others(5): Show p.Tyr209fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	1046/2700	625/1014	209/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273240	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.506 others(4): Show c.506dupA	p.Asn others(5): Show p.Asn169fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	927/2700	506/1014	169/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273260	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.486 others(4): Show c.486dupA	p.Pro others(5): Show p.Pro163fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	907/2700	486/1014	162/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273374	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.372 others(8): Show c.372_373insC	p.Ile others(5): Show p.Ile125fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	793/2700	372/1014	124/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273462	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.284 others(4): Show c.284dupT	p.Leu others(4): Show p.Leu95fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	705/2700	284/1014	95/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273516	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.230 others(4): Show c.230dupC	p.Leu others(4): Show p.Leu78fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	651/2700	230/1014	77/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273549	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.197 others(8): Show c.197_198insT	p.Val others(4): Show p.Val67fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	618/2700	197/1014	66/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273636	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0136 a0004c0004t0005g0136	1	240	0.0042	-1	c.110 others(4): Show c.110delG	p.Gly others(4): Show p.Gly37fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	531/2700	110/1014	37/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273661	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.85_ others(6): Show c.85_86insA	p.Leu others(4): Show p.Leu29fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	506/2700	85/1014	29/337		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78273665	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	1	c.81d others(3): Show c.81dupC	p.Thr others(4): Show p.Thr28fs	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	3/3	502/2700	81/1014	27/337		chrX	TogoVar
D2HGDH_chr2_241729630_241773811	241751375	AGAGGAAA others(67): Show AGAGGAAAGTCAAGGTGCCCTGTGTCCTGCTTGCAGGTCCCCGCTCTCTG TCCGTCCAGTCCAGCCTTGTCTTGG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19083.hp1 NA19083.hp1	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0304 a0011c0035t0001g0304	1	412	0.0024	-74	c.113 others(86): Show c.1130_1140+63delGGAAAGTCAAGGTGCCCTGTGTCCTGCTTGCAG GTCCCCGCTCTCTGTCCGTCCAGTCCAGCCTTGTCTTGGGA	p.Arg others(5): Show p.Arg377fs	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/10	1288/2566	1130/1566	377/521	INFO_REALIGN_3_PRIME	chr2	TogoVar
DACT2_chr6_168301904_168324777	168308272	CTTGCTCT others(24): Show CTTGCTCTTGGGGGGACCCATTTTCAGGCTGG	C C	frameshift_variant frameshift_variant	HIGH	NA19077.hp2 NA19077.hp2	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0002 a0021c0028t0002	a0021c0028t0002g0150 a0021c0028t0002g0150	1	476	0.0021	-31	c.145 others(40): Show c.1454_1484delCCAGCCTGAAAATGGGTCCCCCCAAGAGCAA	p.Ala others(5): Show p.Ala485fs	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	4/4	1628/2997	1454/2325	485/774		chr6	TogoVar
DAXX_chr6_33313558_33327959	33318755	T T	TCTCTCAA others(27): Show TCTCTCAACAACAACAACGGAGGAGGAGGAAAAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0026 a0006c0011t0001g0026	1	375	0.0027	34	c.221 others(43): Show c.2210_2211insTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAGAG	p.Asp others(5): Show p.Asp738fs	DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	8/8	2360/2558	2210/2223	737/740		chr6	TogoVar
DAXX_chr6_33313558_33327959	33318792	GCCACACT others(27): Show GCCACACTTGTCTGCAGGGAAGTGAGAGACAAAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0026 a0006c0011t0001g0026	1	375	0.0027	-34	c.216 others(46): Show c.2164-24_2173delTCTTTGTCTCTCACTTCCCTGCAGACAAGTGTG G	p.Thr others(5): Show p.Thr722fs	DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	8/8	2323/2558	2164/2223	722/740		chr6	TogoVar
DAZ1_chrY_23124355_23204008	23170009	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0027 a0005c0005t0001g0027	1	63	0.0159	1	c.122 others(5): Show c.1220dupG	p.Val others(5): Show p.Val408fs	DAZ1	ENSG00000188120.16	transcript	ENST00000405239.6	protein_coding	13/28	1428/4335	1220/2235	407/744		chrY	TogoVar
DAZ2_chrY_23214533_23296356	23236892	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0051 a0007c0015t0001g0051	1	54	0.0185	1	c.781 others(4): Show c.781dupT	p.Tyr others(5): Show p.Tyr261fs	DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	10/28	990/4065	782/1965	261/654	INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ2_chrY_23214533_23296356	23244054	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0051 a0007c0015t0001g0051	1	54	0.0185	-1	c.997 others(4): Show c.997delT	p.Tyr others(5): Show p.Tyr333fs	DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	13/28	1205/4065	997/1965	333/654	INFO_REALIGN_3_PRIME	chrY	TogoVar
DBF4_chr7_87871493_87914553	87900321	A A	AGACAAGC others(6): Show AGACAAGCACTAGT	frameshift_variant frameshift_variant	HIGH	NA18975.hp2 NA18975.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0014 a0009c0008t0014	a0009c0008t0014g0054 a0009c0008t0014g0054	1	292	0.0034	13	c.781 others(20): Show c.781_782insGACAAGCACTAGT	p.Met others(5): Show p.Met261fs	DBF4	ENSG00000006634.8	transcript	ENST00000265728.6	protein_coding	9/12	1022/3655	782/2025	261/674		chr7	TogoVar
DCAF12L1_chrX_126544383_126557814	126551264	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0004 a0008c0010t0004	a0008c0010t0004g0007 a0008c0010t0004g0007	1	284	0.0035	-1	c.134 others(5): Show c.1344delG	p.Pro others(5): Show p.Pro449fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	1550/3345	1344/1392	448/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551345	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA18997.hp1 NA18997.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	284	0.0035	-1	c.126 others(5): Show c.1263delT	p.Phe others(5): Show p.Phe421fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	1469/3345	1263/1392	421/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551499	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	-1	c.110 others(5): Show c.1109delG	p.Gly others(5): Show p.Gly370fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	1315/3345	1109/1392	370/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551576	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0004 a0008c0010t0004	a0008c0010t0004g0007 a0008c0010t0004g0007	1	284	0.0035	-1	c.103 others(5): Show c.1032delG	p.Cys others(5): Show p.Cys345fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	1238/3345	1032/1392	344/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551691	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	-1	c.917 others(4): Show c.917delT	p.Phe others(5): Show p.Phe306fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	1123/3345	917/1392	306/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551775	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18982.hp1 NA18982.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0010 a0005c0006t0006g0010	1	284	0.0035	-1	c.833 others(4): Show c.833delG	p.Gly others(5): Show p.Gly278fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	1039/3345	833/1392	278/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551862	A A	ATC ATC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	2	c.745 others(9): Show c.745_746dupGA	p.Asp others(5): Show p.Asp249fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	952/3345	746/1392	249/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126551877	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	1	c.731 others(8): Show c.731_732insT	p.Ile others(5): Show p.Ile245fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	937/3345	731/1392	244/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126552055	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	1	c.553 others(4): Show c.553dupC	p.Leu others(5): Show p.Leu185fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	759/3345	553/1392	185/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126552175	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	1	c.433 others(4): Show c.433dupC	p.Gln others(5): Show p.Gln145fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	639/3345	433/1392	145/463		chrX	TogoVar
DCAF12L1_chrX_126544383_126557814	126552572	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0005 a0011c0015t0005	a0011c0015t0005g0008 a0011c0015t0005g0008	1	284	0.0035	-1	c.36d others(3): Show c.36delA	p.Ala others(4): Show p.Ala13fs	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding	1/2	242/3345	36/1392	12/463		chrX	TogoVar
DCAF12L2_chrX_126158499_126171289	126165569	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG02897.hp1 HG02897.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0000 a0004c0008t0003g0000	1	320	0.0031	-1	c.355 others(4): Show c.355delA	p.Thr others(5): Show p.Thr119fs	DCAF12L2	ENSG00000198354.7	transcript	ENST00000360028.4	protein_coding	1/1	720/2791	355/1392	119/463		chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27747280	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0001 a0024c0031t0001	a0024c0031t0001g0178 a0024c0031t0001g0178	1	262	0.0038	-1	c.387 others(4): Show c.387delA	p.Glu others(5): Show p.Glu130fs	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	5/5	825/3485	387/1896	129/631	INFO_REALIGN_3_PRIME	chrX	TogoVar
DCANP1_chr5_135439214_135452348	135445852	ATTCACAT others(1802): Show ATTCACATTCTTGGAAAAGCAGAGGAATGCGAGGGTTAAAATACCTTAAA GGGCAAGGAGATGATTTCTAGATTTCCAGACAATGTCTCAGAGAATTGTA GTGCTCTGGGGTATGCCTGAATGTAACTAATGTAGCTCCTTTTGTGCCTG AGTGTAGACTGGGTCCATGTGCCTACATGCATTCAGTTCCTCCCACCAAA CTGGACAGTGATAGCTAACCCTGTTGACCCTTATGTCTGGGTGCCTTAAA TTTGTGATGCCTCAAACTGACCTTCACAATGACTCTAAGGAGGTAAGTAC TGTGAACTTTCCCGTTTTCTACAAGAAGAAACTGTGGCACGGAGAGATTC AGTTACTTGTCCAGGATCACAGAACTATAGTAAGTGGGGGTGGGGACAAG AATTCTAACCCAGGCAGCAGTCTGACCAGAGGGCCCTAGCTGGGAGCAGC GTTCATGTGCACTGTATGTTCGTGTTTAGTGTATGTCTGTGCATACTTGC GTGTGTGCACACGCACACATGTTCACTCAGGCACGTGGGCTGCCCTGCGG TGGGAGCTGAGAGAATGCAGTGGAGGTTGTTGGGAGGAACTCACCCGCCT GCTCTGGCTGTCTGAGCAGGTGAGGGATAGTGATATCAAGTGCGAAGACC AGGCCCTGAAGCCAGCCTGACGGTTCCAGCTGTTAGGAGAAAGTGAAGGT GGGTGCCATGGATCTGATGATTTCAGTGATTTTCTACTCAAGAAAAATGA AGTCTCGGATGGGCAGAGCTTAACTGCCTTAAAAACTTGGTACAGGGCAA GGTGTGAGTTTCCCGGTGAGACTGTGTGAACTGTGAACGGGTAGAGTCTG AAACTACAAACCAGATGTTTCCGGGCTCCCTCCCGCCTGGTCTGGCCTGT CTTCCTTCTGCTGCTATGCAGTTCATCCTGGGTCCCTGAGGGCCTCGCAG ATGCTTCACTCGAAAGATTGGAGTTGCAGAGTCCCCTGTGGAGGAATTGA ACTGCCCCCTCTCGCAGGACCCCAGCTGGCAAGGTTTTGTTCCTCCCTGG AGGGTAGAGACCCTCACTGAGGCCCTGGAGAGGGGCACTCAGGGGCAGCA GCTCATTCCCAAAGTTCTCTGGTGGAGCTGGGGAGTGGCACCCTGGGAAC TCTGGGGTTTCCCCACCAGCTCCTCTCTCCAGTCTTTGGTGTCCAGGTAC AGTCTCCAGGCCGTGGCTTCTCGAGTTCTGTATGTGGGTTGCTGCTCCGT AATGCATAGTTGGGGGACCATTTTGGTCAGTGACAGATCACTGCTGCTTT TCATCAGACCAAAATACATGTGGCTTCTTCTCCTTGCCAGCCCTACCAGG GCATCTCCCATTATACTAACCCTGCCTATTGGACCTTCTGATGCAAGGAG CAGATTAAAATCCCCTCCCTGTTGCCTACCAGGTCCGTGGCTACAACTAA ATCCCTAGTTGGGGAATCACAGAGCACAGGTAAGCCCTTGGGTTCTGGAG CCAGCTTACTGGGGTGTGAGTCTTCCTTAGCTCCGTGTGGATGGTGAGCC CTCCTCTCTCAGGTCTCATGATAGTAGCTAACCCTTATTAAGTGTGTGCT GGGCACTGATTGAATGCTTTACAGGTGTCACCTTCTAAGACCCTCGTAAC TCTAGCAGGTAGTACTATTATCTTACCCATTTTCCAGCGGGAGAAATAGA GGCAAGAGCAGACTAAATCACTTGCCCAAATCGCATAGCTACTGATGGTG TGATGTTGGGCAAGATATGTAACCTTTCCAAGTCTCAGTTTCCTTATCTG TTAAGTGCAG	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18964.hp2 NA18964.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0035 a0000c0000t0035	a0000c0000t0035g0000 a0000c0000t0035g0000	1	456	0.0022	-1809	c.-55 others(9): Show c.-553_*521del	p.Met others(3): Show p.Met1fs	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	1496/3135	1/735	1/244		chr5	TogoVar
DCBLD2_chr3_98790941_98906695	98901248	AGGCGGGG others(22): Show AGGCGGGGGCGGCGGCCGCGGCCCGGACTT	A A	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01175.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0324 a0006c0022t0001g0324	1	330	0.0030	-29	c.50_ others(34): Show c.50_78delAAGTCCGGGCCGCGGCCGCCGCCCCCGCC	p.Gln others(4): Show p.Gln17fs	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	1/16	447/6128	50/2328	17/775		chr3	TogoVar
DCDC1_chr11_30858603_31374739	30917001	T T	TCGAAGAT others(384): Show TCGAAGATGAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTAAGAGCACAACACATTTTGGTCACTTTATTAAATGACATT AAATAGTTTAAGTTTCAACTACTAAACAGCACTTTGAATGGTGAAAACAC AGATAGTATATTGTCATACTTGAATGCTTTTCTTTAAAAACACAATTCCA GTCCTTATATATATTACAAAACAGCCTTAAAGGAAGAAGTGACATCTTTT CTACAGTACTTAAGATACTCAATACAGAACTGAAAAGCAGTCTAACAGAA ACAAAGGCAAGTCTTCACAGCTGTATGATTTCAGCAGCCAAAGCTGGATG ATGGACTGAAACATTACTATACAACTGGGACAAAACATTATA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03704.hp1 HG03704.hp1	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0001 a0022c0031t0001	a0022c0031t0001g0059 a0022c0031t0001g0059	1	152	0.0066	391	c.332 others(400): Show c.3320_3321insTATAATGTTTTGTCCCAGTTGTATAGTAATGTTTCA GTCCATCATCCAGCTTTGGCTGCTGAAATCATACAGCTGTGAAGACTTGC CTTTGTTTCTGTTAGACTGCTTTTCAGTTCTGTATTGAGTATCTTAAGTA CTGTAGAAAAGATGTCACTTCTTCCTTTAAGGCTGTTTTGTAATATATAT AAGGACTGGAATTGTGTTTTTAAAGAAAAGCATTCAAGTATGACAATATA CTATCTGTGTTTTCACCATTCAAAGTGCTGTTTAGTAGTTGAAACTTAAA CTATTTAATGTCATTTAATAAAGTGACCAAAATGTGTTGTGCTCTTAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCTCAT CTTCG	p.Met others(6): Show p.Met1108fs	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	26/39	3487/7298	3320/5361	1107/1786		chr11	TogoVar
DCDC2C_chr2_3698575_3853008	3847136	CTTTTCTA others(23): Show CTTTTCTATGTCTTCCAGATGGCCCGGGAGT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18971.hp2 NA18971.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0023 a0000c0011t0023	a0000c0011t0023g0046 a0000c0011t0023g0046	1	324	0.0031	-30	c.106 others(42): Show c.1066-17_1078delTTTTCTATGTCTTCCAGATGGCCCGGGAGT	p.Met others(5): Show p.Met356fs	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	11/11		1066/1095	356/364		chr2	TogoVar
DCLK2_chr4_150073445_150262438	150256193	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG01255.hp1 HG01255.hp2 others(3): Show HG00544.hp1 HG01255.hp1 HG01255.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(1): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0013	a0003c0004t0001g0049 a0003c0004t0001g0088 a0003c0004t0002g0010 others(3): Show a0003c0004t0001g0049 a0003c0004t0001g0088 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0003g0004 a0003c0004t0013g0038	6	116	0.0517	1	c.225 others(5): Show c.2250dupC	p.Ala others(5): Show p.Ala751fs	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	16/16	2834/4075	2251/2301	751/766	INFO_REALIGN_3_PRIME	chr4	TogoVar
DCTN2_chr12_57525051_57552192	57547016	TCCTGTAC others(8): Show TCCTGTACTCACAATG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19012.hp2 NA19012.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0034 a0004c0006t0002g0034	1	352	0.0028	-15	c.33_ others(23): Show c.33_36+11delCATTGTGAGTACAGG	p.Ile others(4): Show p.Ile12fs	DCTN2	ENSG00000175203.17	transcript	ENST00000548249.6	protein_coding	1/14		33/1206	11/401		chr12	TogoVar
DDIT4L_chr4_100180870_100195468	100187718	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00733.hp2 HG00741.hp2 others(13): Show HG00323.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01257.hp1 HG01261.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 NA20752.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0053 a0002c0003t0055 a0002c0003t0007 a0002c0003t0053 a0002c0003t0055	a0002c0003t0007g0008 a0002c0003t0053g0074 a0002c0003t0055g0075 a0002c0003t0007g0008 a0002c0003t0053g0074 a0002c0003t0055g0075	16	452	0.0354	-1	c.540 others(4): Show c.540delA	p.Lys others(5): Show p.Lys180fs	DDIT4L	ENSG00000145358.6	transcript	ENST00000273990.6	protein_coding	3/3	755/2604	540/582	180/193		chr4	TogoVar
DDTL_chr22_23961888_23977556	23971341	GGA GGA	G G	frameshift_variant frameshift_variant	HIGH	HG02027.hp2 HG02135.hp1 HG03688.hp1 others(6): Show HG02027.hp2 HG02135.hp1 HG03688.hp1 NA18969.hp1 NA18979.hp1 NA19005.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0011 a0002c0003t0006g0040 a0002c0003t0006g0011 a0002c0003t0006g0040	9	324	0.0278	-2	c.345 others(9): Show c.345_346delGA	p.Glu others(5): Show p.Glu115fs	DDTL	ENSG00000099974.8	transcript	ENST00000215770.6	protein_coding	3/3	372/1582	345/405	115/134	INFO_REALIGN_3_PRIME	chr22	TogoVar
DDT_chr22_23966370_23979441	23974398	AGCTCCAG others(10): Show AGCTCCAGGAACGGCATG	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18952.hp1 NA18952.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0031 a0003c0006t0004g0031	1	316	0.0032	-17	c.-1_ others(22): Show c.-1_16delCATGCCGTTCCTGGAGC	p.Met others(3): Show p.Met1fs	DDT	ENSG00000099977.16	transcript	ENST00000398344.9	protein_coding	1/3	43/565	1/357	1/118		chr22	TogoVar
DDX10_chr11_108660069_108945927	108940243	CAGTGATA others(3): Show CAGTGATACCA	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00735.hp2 HG00735.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0230 a0006c0009t0001g0230	1	320	0.0031	-10	c.245 others(19): Show c.2451_2460delTGATACCAAG	p.Ser others(5): Show p.Ser817fs	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	18/18	2536/3217	2451/2628	817/875	INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX11_chr12_31068860_31109799	31103639	C C	CGGCCCCC others(6): Show CGGCCCCCTGTCCT	frameshift_variant frameshift_variant	HIGH	HG02738.hp1 HG02738.hp1	a0000 a0000	a0000c0030 a0000c0030	a0000c0030t0024 a0000c0030t0024	a0000c0030t0024g0002 a0000c0030t0024g0002	1	418	0.0024	13	c.260 others(22): Show c.2604_2616dupCCCTGTCCTGGCC	p.Lys others(5): Show p.Lys873fs	DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	26/27	2853/3920	2617/2721	873/906	INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 5828 hits)