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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
APOL5_chr22_35712872_35734483	35726318	C C	T T	stop_gained stop_gained	HIGH	HG02809.hp2 HG03041.hp2 HG02809.hp2 HG03041.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0078 a0007c0009t0003g0083 a0007c0009t0003g0078 a0007c0009t0003g0083	2	401	0.0050	0	c.250 others(3): Show c.250C>T	p.Arg others(3): Show p.Arg84*	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding	3/5	250/1438	250/1302	84/433		chr22	TogoVar
APOL5_chr22_35712872_35734483	35726762	A A	T T	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0001 a0010c0017t0001g0001	1	401	0.0025	0	c.694 others(3): Show c.694A>T	p.Lys others(4): Show p.Lys232*	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding	3/5	694/1438	694/1302	232/433		chr22	TogoVar
AQP12A_chr2_240686866_240703483	240698243	C C	T T	stop_gained stop_gained	HIGH	HG02622.hp2 HG02622.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0069 a0014c0022t0001g0069	1	171	0.0059	0	c.775 others(3): Show c.775C>T	p.Arg others(4): Show p.Arg259*	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	4/4	823/1063	775/888	259/295		chr2	TogoVar
ARGFX_chr3_121562949_121595622	121576882	C C	T T	stop_gained stop_gained	HIGH	HG00738.hp2 HG01192.hp2 HG01361.hp2 HG00738.hp2 HG01192.hp2 HG01361.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0006 a0005c0005t0001 a0005c0005t0006	a0005c0005t0001g0257 a0005c0005t0001g0258 a0005c0005t0006g0236 a0005c0005t0001g0257 a0005c0005t0001g0258 a0005c0005t0006g0236	3	410	0.0073	0	c.202 others(3): Show c.202C>T	p.Arg others(3): Show p.Arg68*	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/5	279/5047	202/948	68/315		chr3	TogoVar
ARGFX_chr3_121562949_121595622	121586150	T T	A A	stop_gained stop_gained	HIGH	NA19090.hp2 NA19090.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0053 a0010c0009t0053	a0010c0009t0053g0299 a0010c0009t0053g0299	1	410	0.0024	0	c.498 others(3): Show c.498T>A	p.Tyr others(4): Show p.Tyr166*	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	575/5047	498/948	166/315		chr3	TogoVar
ARHGAP26_chr5_142765377_143234007	142913196	T T	TAGGGAGA others(9): Show TAGGGAGAAGATGAATC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0061 a0001c0002t0004g0061	1	198	0.0051	16	c.934 others(23): Show c.934_949dupGGAGAAGATGAATCAG	p.Val others(5): Show p.Val317fs	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	10/23	1335/9226	950/2280	317/759	INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP8_chr22_44747575_44867784	44845336	G G	T T	stop_gained stop_gained	HIGH	NA18993.hp2 NA18993.hp2	a0019 a0019	a0019c0045 a0019c0045	a0019c0045t0004 a0019c0045t0004	a0019c0045t0004g0295 a0019c0045t0004g0295	1	390	0.0026	0	c.664 others(3): Show c.664G>T	p.Glu others(4): Show p.Glu222*	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	8/12	788/1615	664/1302	222/433		chr22	TogoVar
ARHGAP9_chr12_57467269_57484866	57479352	G G	A A	stop_gained stop_gained	HIGH	NA19057.hp2 NA19057.hp2	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0001 a0007c0027t0001	a0007c0027t0001g0098 a0007c0027t0001g0098	1	406	0.0025	0	c.55C others(2): Show c.55C>T	p.Arg others(3): Show p.Arg19*	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	2/18	210/2599	55/2196	19/731		chr12	TogoVar
ARHGEF37_chr5_149576498_149639968	149620422	C C	A A	stop_gained stop_gained	HIGH	HG01169.hp1 HG01169.hp1	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0005 a0021c0034t0005	a0021c0034t0005g0002 a0021c0034t0005g0002	1	394	0.0025	0	c.963 others(3): Show c.963C>A	p.Cys others(4): Show p.Cys321*	ARHGEF37	ENSG00000183111.12	transcript	ENST00000333677.7	protein_coding	8/13	1101/4943	963/2028	321/675		chr5	TogoVar
ARHGEF5_chr7_144350402_144385632	144362670	A A	ATGGAGGC others(15): Show ATGGAGGCTGAGGAGGCCCAGCG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01496.hp1 HG01884.hp2 NA18951.hp1 others(6): Show HG01496.hp1 HG01884.hp2 NA18951.hp1 NA18977.hp1 NA18985.hp1 NA18986.hp2 NA19012.hp2 NA19055.hp1 NA19084.hp1	a0009 a0009	a0009c0026 a0009c0070 a0009c0071 others(5): Show a0009c0026 a0009c0070 a0009c0071 a0009c0072 a0009c0073 a0009c0074 a0009c0075 a0009c0076	a0009c0026t0001 a0009c0070t0001 a0009c0071t0001 others(5): Show a0009c0026t0001 a0009c0070t0001 a0009c0071t0001 a0009c0072t0001 a0009c0073t0001 a0009c0074t0001 a0009c0075t0002 a0009c0076t0001	a0009c0026t0001g0046 a0009c0026t0001g0050 a0009c0070t0001g0184 others(6): Show a0009c0026t0001g0046 a0009c0026t0001g0050 a0009c0070t0001g0184 a0009c0071t0001g0182 a0009c0072t0001g0051 a0009c0073t0001g0049 a0009c0074t0001g0048 a0009c0075t0002g0183 a0009c0076t0001g0047	9	288	0.0313	22	c.7_2 others(26): Show c.7_28dupGCTGAGGAGGCCCAGCGTGGAG	p.Ala others(4): Show p.Ala10fs	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	141/5482	29/4794	10/1597	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365539	C C	G G	stop_gained stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0076 a0009c0076	a0009c0076t0001 a0009c0076t0001	a0009c0076t0001g0047 a0009c0076t0001g0047	1	288	0.0035	0	c.287 others(4): Show c.2870C>G	p.Ser others(4): Show p.Ser957*	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2982/5482	2870/4794	957/1597		chr7	TogoVar
ARL11_chr13_49623507_49638872	49630893	G G	A A	stop_gained stop_gained	HIGH	HG00735.hp1 HG03017.hp1 HG03239.hp2 HG00735.hp1 HG03017.hp1 HG03239.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0005 a0004c0006t0006g0005	3	456	0.0066	0	c.446 others(3): Show c.446G>A	p.Trp others(4): Show p.Trp149*	ARL11	ENSG00000152213.4	transcript	ENST00000282026.2	protein_coding	2/2	573/3552	446/591	149/196		chr13	TogoVar
ARMCX4_chrX_101480456_101500807	101493232	A A	AT AT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	1	c.464 others(5): Show c.4644dupT	p.Ser others(6): Show p.Ser1549fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5156/7729	4645/6873	1549/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGGTTGGGGCTGGGGTTGGGGCTGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18953.hp1 NA18953.hp1	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0009 a0033c0050t0009	a0033c0050t0009g0002 a0033c0050t0009g0002	1	326	0.0031	427	c.546 others(436): Show c.5461_5462insGTTGGGGCTGGGGTTGGGGCTGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(408): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGGCTGGGGCTGAGGCTG AGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGG ACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTG GGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGG GCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGC TGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18961.hp1 NA18961.hp1	a0046 a0046	a0046c0033 a0046c0033	a0046c0033t0002 a0046c0033t0002	a0046c0033t0002g0001 a0046c0033t0002g0001	1	326	0.0031	415	c.546 others(424): Show c.5461_5462insTTGGGGCTGGGGGCTGGGGCTGAGGCTGAGGCTGGG GCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGC TGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG GGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGAC TGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTG AGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGC TGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGC TGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTG GGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGG GCTGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18977.hp1 NA18977.hp1	a0024 a0024	a0024c0061 a0024c0061	a0024c0061t0001 a0024c0061t0001	a0024c0061t0001g0018 a0024c0061t0001g0018	1	326	0.0031	427	c.546 others(436): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTA GGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAG GCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMS2_chr10_122449653_122462352	122454839	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02602.hp1 HG02970.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18959.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007	a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 a0003c0003t0002g0012 a0003c0003t0004g0003 a0003c0003t0005g0003 a0003c0003t0007g0003	61	424	0.1439	0	c.112 others(3): Show c.112C>T	p.Arg others(3): Show p.Arg38*	ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding	1/2	187/818	112/324	38/107		chr10	TogoVar
ARPC3_chr12_110429823_110455337	110436186	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	334	0.0030	0	c.398 others(3): Show c.398T>G	p.Leu others(4): Show p.Leu133*	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	6/7	475/946	398/537	133/178		chr12	TogoVar
ARSG_chr17_68286495_68425814	68368664	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp1 HG01884.hp1	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0002 a0010c0029t0002	a0010c0029t0002g0217 a0010c0029t0002g0217	1	304	0.0033	0	c.821 others(3): Show c.821G>A	p.Trp others(4): Show p.Trp274*	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	7/12	1446/2554	821/1578	274/525		chr17	TogoVar
ART1_chr11_3640128_3669416	3659744	T T	G G	stop_gained stop_gained	HIGH	HG01167.hp2 HG01167.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0286 a0007c0010t0001g0286	1	394	0.0025	0	c.225 others(3): Show c.225T>G	p.Tyr others(3): Show p.Tyr75*	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	3/5	329/1315	225/984	75/327		chr11	TogoVar
ASAH2_chr10_50179861_50256516	50245335	G G	A A	stop_gained stop_gained	HIGH	HG00735.hp2 HG00735.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0038 a0006c0020t0038	a0006c0020t0038g0059 a0006c0020t0038g0059	1	408	0.0025	0	c.247 others(3): Show c.247C>T	p.Gln others(3): Show p.Gln83*	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	3/21	405/4955	247/2343	83/780		chr10	TogoVar
ASB14_chr3_57263342_57297685	57278805	G G	A A	stop_gained stop_gained	HIGH	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0251 a0007c0009t0003g0251	1	336	0.0030	0	c.100 others(4): Show c.1003C>T	p.Gln others(4): Show p.Gln335*	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	8/11	1127/3187	1003/1764	335/587		chr3	TogoVar
ASB14_chr3_57263342_57297685	57280456	G G	A A	stop_gained stop_gained	HIGH	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0042 a0006c0010t0004g0042	1	336	0.0030	0	c.733 others(3): Show c.733C>T	p.Gln others(4): Show p.Gln245*	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	7/11	857/3187	733/1764	245/587		chr3	TogoVar
ASB14_chr3_57263342_57297685	57287925	C C	A A	stop_gained stop_gained	HIGH	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0158 a0003c0012t0001g0158	1	336	0.0030	0	c.445 others(3): Show c.445G>T	p.Glu others(4): Show p.Glu149*	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/11	569/3187	445/1764	149/587		chr3	TogoVar
ASB15_chr7_123596821_123644481	123627256	C C	T T	stop_gained stop_gained	HIGH	HG01070.hp2 HG01071.hp2 NA18971.hp2 others(4): Show HG01070.hp2 HG01071.hp2 NA18971.hp2 NA18974.hp2 NA18979.hp2 NA18993.hp2 NA19004.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0004 a0005c0007t0010 others(1): Show a0005c0007t0003 a0005c0007t0004 a0005c0007t0010 a0005c0007t0031	a0005c0007t0003g0293 a0005c0007t0003g0308 a0005c0007t0003g0309 others(4): Show a0005c0007t0003g0293 a0005c0007t0003g0308 a0005c0007t0003g0309 a0005c0007t0003g0318 a0005c0007t0004g0323 a0005c0007t0010g0310 a0005c0007t0031g0285	7	380	0.0184	0	c.844 others(3): Show c.844C>T	p.Arg others(4): Show p.Arg282*	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	9/12	1182/4605	844/1767	282/588		chr7	TogoVar
ASB16_chr17_44165704_44184084	44177086	C C	A A	stop_gained stop_gained	HIGH	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0033 a0008c0010t0001g0033	2	362	0.0055	0	c.918 others(3): Show c.918C>A	p.Tyr others(4): Show p.Tyr306*	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding	3/5	1004/2142	918/1362	306/453		chr17	TogoVar
ASB16_chr17_44165704_44184084	44178274	C C	T T	stop_gained stop_gained	HIGH	NA19070.hp2 NA19070.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0006 a0013c0020t0001g0006	1	362	0.0028	0	c.124 others(4): Show c.1246C>T	p.Arg others(4): Show p.Arg416*	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding	5/5	1332/2142	1246/1362	416/453		chr17	TogoVar
ASCC3_chr6_100503194_100886329	100642674	G G	A A	stop_gained stop_gained	HIGH	NA19054.hp2 NA19054.hp2	a0009 a0009	a0009c0036 a0009c0036	a0009c0036t0002 a0009c0036t0002	a0009c0036t0002g0049 a0009c0036t0002g0049	1	314	0.0032	0	c.380 others(4): Show c.3808C>T	p.Arg others(5): Show p.Arg1270*	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	24/42	4118/8111	3808/6609	1270/2202		chr6	TogoVar
ASCL3_chr11_8932578_8948016	8937780	G G	A A	stop_gained stop_gained	HIGH	HG02004.hp2 HG02004.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0045 a0008c0008t0001g0045	1	440	0.0023	0	c.382 others(3): Show c.382C>T	p.Arg others(4): Show p.Arg128*	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding	2/2	425/627	382/546	128/181		chr11	TogoVar
ASPM_chr1_197079127_197151669	197101686	A A	C C	stop_gained stop_gained	HIGH	HG02896.hp1 HG02897.hp1 HG02965.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG02965.hp1 NA19043.hp2	a0013 a0014 a0013 a0014	a0013c0025 a0014c0024 a0013c0025 a0014c0024	a0013c0025t0004 a0014c0024t0004 a0013c0025t0004 a0014c0024t0004	a0013c0025t0004g0022 a0014c0024t0004g0090 a0014c0024t0004g0091 a0013c0025t0004g0022 a0014c0024t0004g0090 a0014c0024t0004g0091	4	296	0.0135	0	c.756 others(4): Show c.7565T>G	p.Leu others(5): Show p.Leu2522*	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	7797/10863	7565/10434	2522/3477		chr1	TogoVar
ATG9B_chr7_151010151_151029494	151017125	G G	A A	stop_gained stop_gained	HIGH	NA18995.hp2 NA19010.hp2 NA18995.hp2 NA19010.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0036 a0010c0015t0001g0036	2	466	0.0043	0	c.220 others(4): Show c.2200C>T	p.Arg others(4): Show p.Arg734*	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	9/14	2271/3423	2200/2775	734/924		chr7	TogoVar
ATG9B_chr7_151010151_151029494	151018369	G G	C C	stop_gained stop_gained	HIGH	NA18995.hp1 NA19005.hp2 NA19074.hp2 NA18995.hp1 NA19005.hp2 NA19074.hp2	a0012 a0022 a0012 a0022	a0012c0017 a0022c0045 a0012c0017 a0022c0045	a0012c0017t0001 a0022c0045t0001 a0012c0017t0001 a0022c0045t0001	a0012c0017t0001g0040 a0022c0045t0001g0095 a0012c0017t0001g0040 a0022c0045t0001g0095	3	466	0.0064	0	c.179 others(4): Show c.1797C>G	p.Tyr others(4): Show p.Tyr599*	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	7/14	1868/3423	1797/2775	599/924		chr7	TogoVar
ATP10B_chr5_160558120_160857211	160632188	G G	A A	stop_gained stop_gained	HIGH	NA18961.hp2 NA18961.hp2	a0019 a0019	a0019c0035 a0019c0035	a0019c0035t0004 a0019c0035t0004	a0019c0035t0004g0062 a0019c0035t0004g0062	1	236	0.0042	0	c.156 others(4): Show c.1561C>T	p.Gln others(4): Show p.Gln521*	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	13/26	2407/7565	1561/4386	521/1461		chr5	TogoVar
ATP13A5_chr3_193269789_193383753	193334980	G G	A A	stop_gained stop_gained	HIGH	HG01175.hp2 HG01175.hp2	a0020 a0020	a0020c0042 a0020c0042	a0020c0042t0001 a0020c0042t0001	a0020c0042t0001g0138 a0020c0042t0001g0138	1	284	0.0035	0	c.106 others(4): Show c.1063C>T	p.Gln others(4): Show p.Gln355*	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	10/30	1091/3938	1063/3657	355/1218		chr3	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128866495	G G	A A	stop_gained stop_gained	HIGH	NA18943.hp2 NA18973.hp2 NA18998.hp2 others(1): Show NA18943.hp2 NA18973.hp2 NA18998.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	4	442	0.0091	0	c.86G others(2): Show c.86G>A	p.Trp others(3): Show p.Trp29*	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/2	166/3883	86/531	29/176		chr7	TogoVar
ATP6V1G1_chr9_114582769_114603879	114597738	G G	T T	stop_gained stop_gained	HIGH	NA18972.hp2 NA18984.hp1 NA18972.hp2 NA18984.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0046 a0003c0003t0002g0001 a0003c0003t0002g0046	2	420	0.0048	0	c.352 others(3): Show c.352G>T	p.Gly others(4): Show p.Gly118*	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	3/3	422/1563	352/357	118/118		chr9	TogoVar
ATXN2L_chr16_28817999_28842232	28836128	C C	T T	stop_gained stop_gained	HIGH	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	0	c.309 others(4): Show c.3091C>T	p.Gln others(5): Show p.Gln1031*	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3352/4456	3091/3228	1031/1075		chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836209	G G	T T	stop_gained stop_gained	HIGH	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	0	c.317 others(4): Show c.3172G>T	p.Gly others(5): Show p.Gly1058*	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3433/4456	3172/3228	1058/1075		chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28836236	C C	T T	stop_gained stop_gained	HIGH	NA18941.hp2 NA18941.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0010 a0000c0019t0010	a0000c0019t0010g0059 a0000c0019t0010g0059	1	382	0.0026	0	c.319 others(4): Show c.3199C>T	p.Gln others(5): Show p.Gln1067*	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	22/22	3460/4456	3199/3228	1067/1075		chr16	TogoVar
AVIL_chr12_57792380_57823734	57810515	G G	A A	stop_gained stop_gained	HIGH	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0004 a0007c0014t0004	a0007c0014t0004g0060 a0007c0014t0004g0060	1	372	0.0027	0	c.595 others(3): Show c.595C>T	p.Arg others(4): Show p.Arg199*	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	7/20	720/3087	595/2460	199/819		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179534935	G G	T T	stop_gained stop_gained	HIGH	HG01257.hp1 HG01361.hp1 HG01952.hp2 others(1): Show HG01257.hp1 HG01361.hp1 HG01952.hp2 HG01981.hp2	a0012 a0024 a0012 a0024	a0012c0014 a0024c0024 a0012c0014 a0024c0024	a0012c0014t0001 a0024c0024t0001 a0012c0014t0001 a0024c0024t0001	a0012c0014t0001g0117 a0012c0014t0001g0122 a0012c0014t0001g0139 others(1): Show a0012c0014t0001g0117 a0012c0014t0001g0122 a0012c0014t0001g0139 a0024c0024t0001g0145	4	356	0.0112	0	c.300 others(4): Show c.3004G>T	p.Glu others(5): Show p.Glu1002*	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	25/26	3140/3391	3004/3039	1002/1012		chr1	TogoVar
B3GLCT_chr13_31194975_31337276	31286770	C C	T T	stop_gained stop_gained	HIGH	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0226 a0005c0006t0003g0227 a0005c0006t0003g0226 a0005c0006t0003g0227	2	268	0.0075	0	c.101 others(4): Show c.1015C>T	p.Gln others(4): Show p.Gln339*	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/15	1125/4215	1015/1497	339/498		chr13	TogoVar
B3GNT7_chr2_231390710_231406164	231398140	A A	T T	stop_gained stop_gained	HIGH	NA18987.hp2 NA18987.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0007	a0004c0009t0007g0001 a0004c0009t0007g0001	1	426	0.0024	0	c.421 others(3): Show c.421A>T	p.Lys others(4): Show p.Lys141*	B3GNT7	ENSG00000156966.7	transcript	ENST00000287590.6	protein_coding	2/2	515/3539	421/1206	141/401		chr2	TogoVar
B3GNT8_chr19_41420359_41432374	41426049	G G	A A	stop_gained stop_gained	HIGH	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0025 a0005c0014t0001g0025	1	420	0.0024	0	c.730 others(3): Show c.730C>T	p.Arg others(4): Show p.Arg244*	B3GNT8	ENSG00000177191.3	transcript	ENST00000691102.1	protein_coding	2/2	853/1543	730/1194	244/397		chr19	TogoVar
B4GALNT2_chr17_49127769_49181840	49168885	C C	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG02818.hp2 HG02895.hp1 others(2): Show HG01884.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0211 a0003c0003t0009g0240 a0003c0003t0009g0241 others(2): Show a0003c0003t0009g0211 a0003c0003t0009g0240 a0003c0003t0009g0241 a0003c0003t0009g0261 a0003c0003t0009g0349	5	380	0.0132	0	c.130 others(4): Show c.1300C>T	p.Arg others(4): Show p.Arg434*	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	10/11	1324/8657	1300/1521	434/506		chr17	TogoVar
BAHD1_chr15_40435953_40473236	40458522	C C	T T	stop_gained stop_gained	HIGH	NA19084.hp2 NA19084.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0174 a0005c0013t0001g0174	1	372	0.0027	0	c.58C others(2): Show c.58C>T	p.Arg others(3): Show p.Arg20*	BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding	2/7	388/4779	58/2343	20/780		chr15	TogoVar
BAIAP2L1_chr7_98286650_98406090	98355103	G G	C C	stop_gained stop_gained	HIGH	HG00423.hp1 HG00423.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0003 a0004c0016t0003	a0004c0016t0003g0245 a0004c0016t0003g0245	1	298	0.0034	0	c.153 others(3): Show c.153C>G	p.Tyr others(3): Show p.Tyr51*	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	3/14	391/3645	153/1536	51/511		chr7	TogoVar
BAIAP3_chr16_1328645_1354439	1346751	C C	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01069.hp2 HG02970.hp2 HG03486.hp2 HG01069.hp2 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0107 a0001c0001t0001g0141 a0001c0001t0001g0142	3	358	0.0084	101	c.264 others(113): Show c.2643-54_2689dupTGGGGCCAGCGGGGCAGGTGGGGCTGGCCCGTG GTCACTGATGCTGCCCTGCAGGGTGCTGGAGGCCCTGTGGGAGCTACTCC TCCAGGCCATTCTGCAGG	p.Ala others(5): Show p.Ala897fs	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	28/34	2805/4531	2690/3459	897/1152	INFO_REALIGN_3_PRIME	chr16	TogoVar
BATF3_chr1_212681417_212704840	212697005	T T	A A	stop_gained stop_gained	HIGH	NA18963.hp2 NA18963.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0242 a0004c0008t0001g0242	1	462	0.0022	0	c.151 others(3): Show c.151A>T	p.Arg others(3): Show p.Arg51*	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/3	229/836	151/384	51/127		chr1	TogoVar
BAZ1B_chr7_73435406_73527293	73478458	T T	A A	stop_gained stop_gained	HIGH	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0078 a0003c0004t0001g0078	1	200	0.0050	0	c.100 others(4): Show c.1003A>T	p.Lys others(4): Show p.Lys335*	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	7/20	1363/6115	1003/4452	335/1483		chr7	TogoVar

Search by Variant

Search

Search Results (Total: 3004 hits)