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.

⚠️ 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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ANK2_chr4_113044653_113388736	113355625	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02145.hp1 HG02559.hp2 others(2): Show HG01884.hp1 HG02145.hp1 HG02559.hp2 HG03130.hp2 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0068 a0004c0005t0001g0072 others(2): Show a0004c0005t0001g0019 a0004c0005t0001g0068 a0004c0005t0001g0072 a0004c0005t0001g0123 a0004c0005t0001g0164	5	178	0.0281	c.700 others(4): Show c.7007C>T	p.Ala others(7): Show p.Ala2336Val	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	7083/14215	7007/11874	2336/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113355724	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00642.hp1 HG00738.hp2 others(11): Show HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01106.hp1 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp1 NA20300.hp1	a0003 a0004 a0010 others(1): Show a0003 a0004 a0010 a0011	a0003c0006 a0003c0020 a0003c0024 others(5): Show a0003c0006 a0003c0020 a0003c0024 a0003c0031 a0003c0034 a0004c0005 a0010c0026 a0011c0025	a0003c0006t0002 a0003c0020t0002 a0003c0024t0001 others(5): Show a0003c0006t0002 a0003c0020t0002 a0003c0024t0001 a0003c0031t0001 a0003c0034t0001 a0004c0005t0001 a0010c0026t0001 a0011c0025t0001	a0003c0006t0002g0064 a0003c0006t0002g0129 a0003c0006t0002g0154 others(11): Show a0003c0006t0002g0064 a0003c0006t0002g0129 a0003c0006t0002g0154 a0003c0020t0002g0113 a0003c0024t0001g0100 a0003c0031t0001g0103 a0003c0034t0001g0056 a0004c0005t0001g0019 a0004c0005t0001g0068 a0004c0005t0001g0072 a0004c0005t0001g0123 a0004c0005t0001g0164 a0010c0026t0001g0034 a0011c0025t0001g0094	14	178	0.0787	c.710 others(4): Show c.7106T>C	p.Val others(7): Show p.Val2369Ala	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	7182/14215	7106/11874	2369/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113355885	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0019 a0019	a0019c0011 a0019c0011	a0019c0011t0001 a0019c0011t0001	a0019c0011t0001g0105 a0019c0011t0001g0105	1	178	0.0056	c.726 others(4): Show c.7267G>A	p.Ala others(7): Show p.Ala2423Thr	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	7343/14215	7267/11874	2423/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113356134	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0170 a0018c0017t0001g0170	1	178	0.0056	c.751 others(4): Show c.7516C>T	p.Arg others(7): Show p.Arg2506Trp	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	7592/14215	7516/11874	2506/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113357005	C C	T T	missense_variant missense_variant	MODERATE	NA18940.hp2 NA18940.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0132 a0012c0016t0001g0132	1	178	0.0056	c.838 others(4): Show c.8387C>T	p.Pro others(7): Show p.Pro2796Leu	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	8463/14215	8387/11874	2796/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113357121	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00609.hp1 HG00609.hp2 others(55): Show HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG01175.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02055.hp2 HG02056.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18960.hp1 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18992.hp1 NA19043.hp1 NA19074.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp2	a0002 a0005 a0016 others(2): Show a0002 a0005 a0016 a0017 a0021	a0002c0002 a0002c0003 a0002c0022 others(10): Show a0002c0002 a0002c0003 a0002c0022 a0002c0023 a0002c0027 a0002c0030 a0002c0032 a0002c0033 a0002c0035 a0005c0009 a0016c0028 a0017c0029 a0021c0037	a0002c0002t0001 a0002c0002t0004 a0002c0003t0001 others(12): Show a0002c0002t0001 a0002c0002t0004 a0002c0003t0001 a0002c0003t0007 a0002c0022t0001 a0002c0023t0001 a0002c0027t0008 a0002c0030t0001 a0002c0032t0001 a0002c0033t0001 a0002c0035t0001 a0005c0009t0001 a0016c0028t0001 a0017c0029t0001 a0021c0037t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 others(55): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0016 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0054 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0112 a0002c0002t0001g0119 a0002c0002t0001g0125 a0002c0002t0001g0133 a0002c0002t0001g0161 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0004g0156 a0002c0003t0001g0001 a0002c0003t0001g0048 a0002c0003t0001g0050 a0002c0003t0001g0057 a0002c0003t0001g0060 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0080 a0002c0003t0001g0098 a0002c0003t0001g0104 a0002c0003t0001g0115 a0002c0003t0001g0138 a0002c0003t0001g0145 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0162 a0002c0003t0001g0165 a0002c0003t0001g0172 a0002c0003t0007g0137 a0002c0022t0001g0012 a0002c0023t0001g0058 a0002c0027t0008g0076 a0002c0030t0001g0077 a0002c0032t0001g0135 a0002c0033t0001g0017 a0002c0035t0001g0169 a0005c0009t0001g0029 a0005c0009t0001g0128 a0016c0028t0001g0084 a0017c0029t0001g0140 a0021c0037t0001g0006	58	178	0.3258	c.850 others(4): Show c.8503C>T	p.Pro others(7): Show p.Pro2835Ser	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	8579/14215	8503/11874	2835/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113357386	A A	G G	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0140 a0017c0029t0001g0140	1	178	0.0056	c.876 others(4): Show c.8768A>G	p.Gln others(7): Show p.Gln2923Arg	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	8844/14215	8768/11874	2923/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113357679	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 NA20300.hp2 HG02451.hp1 NA20300.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0029 a0005c0009t0001g0128 a0005c0009t0001g0029 a0005c0009t0001g0128	2	178	0.0112	c.906 others(4): Show c.9061G>A	p.Ala others(7): Show p.Ala3021Thr	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	9137/14215	9061/11874	3021/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113358072	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0034 a0010c0026t0001g0034	1	178	0.0056	c.945 others(4): Show c.9454A>G	p.Thr others(7): Show p.Thr3152Ala	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	9530/14215	9454/11874	3152/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113358138	A A	G G	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0118 a0013c0015t0001g0118	1	178	0.0056	c.952 others(4): Show c.9520A>G	p.Thr others(7): Show p.Thr3174Ala	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	9596/14215	9520/11874	3174/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113358518	C C	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0148 a0014c0012t0001g0148	1	178	0.0056	c.990 others(4): Show c.9900C>A	p.Ser others(7): Show p.Ser3300Arg	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	9976/14215	9900/11874	3300/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113358879	G G	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0157 a0015c0014t0001g0157	1	178	0.0056	c.102 others(5): Show c.10261G>T	p.Ala others(7): Show p.Ala3421Ser	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	10337/14215	10261/11874	3421/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113360843	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0001 a0021c0037t0001	a0021c0037t0001g0006 a0021c0037t0001g0006	1	178	0.0056	c.107 others(5): Show c.10702C>T	p.Arg others(7): Show p.Arg3568Trp	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	39/46	10778/14215	10702/11874	3568/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113365125	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0094 a0011c0025t0001g0094	1	178	0.0056	c.109 others(5): Show c.10975C>T	p.Arg others(7): Show p.Arg3659Cys	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	41/46	11051/14215	10975/11874	3659/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113365165	C C	A A	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0170 a0018c0017t0001g0170	1	178	0.0056	c.110 others(5): Show c.11015C>A	p.Thr others(7): Show p.Thr3672Lys	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	41/46	11091/14215	11015/11874	3672/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113367751	C C	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0094 a0011c0025t0001g0094	1	178	0.0056	c.112 others(5): Show c.11218C>A	p.Leu others(7): Show p.Leu3740Ile	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	42/46	11294/14215	11218/11874	3740/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113369719	C C	T T	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0084 a0016c0028t0001g0084	1	178	0.0056	c.115 others(5): Show c.11524C>T	p.Arg others(7): Show p.Arg3842Trp	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	43/46	11600/14215	11524/11874	3842/3957	chr4	TogoVar
ANK3_chr10_60021298_60394875	60055954	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG02145.hp2 HG02257.hp1 others(11): Show HG01167.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02976.hp1 HG03098.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA20129.hp2	a0003 a0012 a0020 others(1): Show a0003 a0012 a0020 a0023	a0003c0006 a0003c0009 a0003c0033 others(6): Show a0003c0006 a0003c0009 a0003c0033 a0003c0046 a0003c0080 a0012c0030 a0012c0077 a0020c0032 a0023c0042	a0003c0006t0002 a0003c0006t0016 a0003c0006t0028 others(10): Show a0003c0006t0002 a0003c0006t0016 a0003c0006t0028 a0003c0006t0037 a0003c0009t0004 a0003c0009t0052 a0003c0033t0012 a0003c0046t0012 a0003c0080t0038 a0012c0030t0001 a0012c0077t0001 a0020c0032t0019 a0023c0042t0002	a0003c0006t0002g0157 a0003c0006t0016g0036 a0003c0006t0028g0010 others(11): Show a0003c0006t0002g0157 a0003c0006t0016g0036 a0003c0006t0028g0010 a0003c0006t0037g0030 a0003c0009t0004g0048 a0003c0009t0004g0186 a0003c0009t0052g0185 a0003c0033t0012g0025 a0003c0046t0012g0040 a0003c0080t0038g0020 a0012c0030t0001g0188 a0012c0077t0001g0146 a0020c0032t0019g0191 a0023c0042t0002g0069	14	192	0.0729	c.127 others(5): Show c.12769A>G	p.Ile others(7): Show p.Ile4257Val	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	42/44	13106/17019	12769/13134	4257/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60068729	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0023 a0023	a0023c0042 a0023c0042	a0023c0042t0002 a0023c0042t0002	a0023c0042t0002g0069 a0023c0042t0002g0069	1	192	0.0052	c.121 others(5): Show c.12152C>T	p.Thr others(7): Show p.Thr4051Met	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	12489/17019	12152/13134	4051/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60068730	T T	C C	missense_variant missense_variant	MODERATE	HG03239.hp1 HG03239.hp1	a0022 a0022	a0022c0081 a0022c0081	a0022c0081t0051 a0022c0081t0051	a0022c0081t0051g0086 a0022c0081t0051g0086	1	192	0.0052	c.121 others(5): Show c.12151A>G	p.Thr others(7): Show p.Thr4051Ala	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	12488/17019	12151/13134	4051/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60069056	T T	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0024 a0024	a0024c0051 a0024c0051	a0024c0051t0011 a0024c0051t0011	a0024c0051t0011g0045 a0024c0051t0011g0045	1	192	0.0052	c.118 others(5): Show c.11825A>G	p.Lys others(7): Show p.Lys3942Arg	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	12162/17019	11825/13134	3942/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60069791	G G	C C	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0009 a0009	a0009c0021 a0009c0050 a0009c0021 a0009c0050	a0009c0021t0001 a0009c0050t0001 a0009c0021t0001 a0009c0050t0001	a0009c0021t0001g0099 a0009c0050t0001g0049 a0009c0021t0001g0099 a0009c0050t0001g0049	2	192	0.0104	c.110 others(5): Show c.11090C>G	p.Ser others(7): Show p.Ser3697Cys	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	11427/17019	11090/13134	3697/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60069928	T T	G G	missense_variant missense_variant	MODERATE	HG01070.hp1 HG02572.hp2 HG02818.hp2 others(1): Show HG01070.hp1 HG02572.hp2 HG02818.hp2 HG02886.hp1	a0008 a0027 a0008 a0027	a0008c0014 a0008c0072 a0027c0086 a0008c0014 a0008c0072 a0027c0086	a0008c0014t0001 a0008c0014t0008 a0008c0072t0001 others(1): Show a0008c0014t0001 a0008c0014t0008 a0008c0072t0001 a0027c0086t0014	a0008c0014t0001g0179 a0008c0014t0008g0152 a0008c0072t0001g0128 others(1): Show a0008c0014t0001g0179 a0008c0014t0008g0152 a0008c0072t0001g0128 a0027c0086t0014g0009	4	192	0.0208	c.109 others(5): Show c.10953A>C	p.Lys others(7): Show p.Lys3651Asn	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	11290/17019	10953/13134	3651/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60071199	C C	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02809.hp2 HG02615.hp1 HG02809.hp2	a0010 a0010	a0010c0053 a0010c0088 a0010c0053 a0010c0088	a0010c0053t0002 a0010c0088t0032 a0010c0053t0002 a0010c0088t0032	a0010c0053t0002g0027 a0010c0088t0032g0005 a0010c0053t0002g0027 a0010c0088t0032g0005	2	192	0.0104	c.968 others(4): Show c.9682G>C	p.Val others(7): Show p.Val3228Leu	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	10019/17019	9682/13134	3228/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60071513	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00609.hp1 HG00738.hp2 others(17): Show HG00099.hp1 HG00609.hp1 HG00738.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG02071.hp1 HG02258.hp2 HG02602.hp1 HG02615.hp2 HG03688.hp1 HG03831.hp1 NA18939.hp2 NA18959.hp1 NA18969.hp2 NA19070.hp2 NA20805.hp1	a0002 a0017 a0019 a0002 a0017 a0019	a0002c0004 a0002c0012 a0002c0013 others(8): Show a0002c0004 a0002c0012 a0002c0013 a0002c0018 a0002c0022 a0002c0062 a0002c0066 a0002c0069 a0002c0079 a0017c0063 a0019c0061	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(16): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0029 a0002c0004t0046 a0002c0012t0013 a0002c0012t0020 a0002c0013t0002 a0002c0013t0005 a0002c0018t0017 a0002c0018t0026 a0002c0022t0013 a0002c0062t0011 a0002c0066t0018 a0002c0069t0022 a0002c0079t0002 a0017c0063t0022 a0019c0061t0002	a0002c0004t0001g0173 a0002c0004t0002g0032 a0002c0004t0002g0156 others(17): Show a0002c0004t0001g0173 a0002c0004t0002g0032 a0002c0004t0002g0156 a0002c0004t0003g0144 a0002c0004t0004g0175 a0002c0004t0029g0012 a0002c0004t0046g0127 a0002c0012t0013g0059 a0002c0012t0020g0100 a0002c0013t0002g0104 a0002c0013t0005g0078 a0002c0018t0017g0090 a0002c0018t0026g0089 a0002c0022t0013g0141 a0002c0062t0011g0159 a0002c0066t0018g0116 a0002c0069t0022g0117 a0002c0079t0002g0111 a0017c0063t0022g0101 a0019c0061t0002g0077	20	192	0.1042	c.936 others(4): Show c.9368A>G	p.Lys others(7): Show p.Lys3123Arg	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	9705/17019	9368/13134	3123/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60071532	T T	C C	missense_variant missense_variant	MODERATE	HG01515.hp2 HG06807.hp2 HG01515.hp2 HG06807.hp2	a0011 a0011	a0011c0024 a0011c0058 a0011c0024 a0011c0058	a0011c0024t0025 a0011c0058t0055 a0011c0024t0025 a0011c0058t0055	a0011c0024t0025g0114 a0011c0058t0055g0124 a0011c0024t0025g0114 a0011c0058t0055g0124	2	192	0.0104	c.934 others(4): Show c.9349A>G	p.Ile others(7): Show p.Ile3117Val	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	9686/17019	9349/13134	3117/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60071595	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0021 a0021	a0021c0064 a0021c0064	a0021c0064t0053 a0021c0064t0053	a0021c0064t0053g0041 a0021c0064t0053g0041	1	192	0.0052	c.928 others(4): Show c.9286G>A	p.Val others(7): Show p.Val3096Ile	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	9623/17019	9286/13134	3096/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60071744	G G	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02451.hp1 HG02559.hp2 others(14): Show HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2	a0004 a0007 a0010 others(2): Show a0004 a0007 a0010 a0013 a0020	a0004c0010 a0004c0026 a0004c0029 others(10): Show a0004c0010 a0004c0026 a0004c0029 a0004c0044 a0004c0076 a0004c0087 a0004c0089 a0007c0017 a0007c0019 a0010c0053 a0010c0088 a0013c0092 a0020c0032	a0004c0010t0001 a0004c0010t0023 a0004c0026t0021 others(12): Show a0004c0010t0001 a0004c0010t0023 a0004c0026t0021 a0004c0029t0001 a0004c0044t0001 a0004c0076t0047 a0004c0087t0008 a0004c0089t0031 a0007c0017t0049 a0007c0017t0050 a0007c0019t0006 a0010c0053t0002 a0010c0088t0032 a0013c0092t0006 a0020c0032t0019	a0004c0010t0001g0057 a0004c0010t0001g0181 a0004c0010t0023g0037 others(14): Show a0004c0010t0001g0057 a0004c0010t0001g0181 a0004c0010t0023g0037 a0004c0026t0021g0026 a0004c0029t0001g0024 a0004c0044t0001g0083 a0004c0076t0047g0132 a0004c0087t0008g0142 a0004c0089t0031g0008 a0007c0017t0049g0023 a0007c0017t0050g0072 a0007c0019t0006g0006 a0007c0019t0006g0007 a0010c0053t0002g0027 a0010c0088t0032g0005 a0013c0092t0006g0004 a0020c0032t0019g0191	17	192	0.0885	c.913 others(4): Show c.9137C>G	p.Thr others(7): Show p.Thr3046Ser	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	9474/17019	9137/13134	3046/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60071893	C C	G G	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01928.hp1 HG01943.hp1 others(5): Show HG01496.hp2 HG01928.hp1 HG01943.hp1 HG03239.hp2 NA18953.hp2 NA18963.hp2 NA18973.hp2 NA20805.hp2	a0005 a0005	a0005c0003 a0005c0082 a0005c0003 a0005c0082	a0005c0003t0002 a0005c0003t0024 a0005c0082t0027 a0005c0003t0002 a0005c0003t0024 a0005c0082t0027	a0005c0003t0002g0108 a0005c0003t0002g0118 a0005c0003t0002g0153 others(5): Show a0005c0003t0002g0108 a0005c0003t0002g0118 a0005c0003t0002g0153 a0005c0003t0002g0170 a0005c0003t0002g0176 a0005c0003t0024g0063 a0005c0003t0024g0064 a0005c0082t0027g0097	8	192	0.0417	c.898 others(4): Show c.8988G>C	p.Gln others(7): Show p.Gln2996His	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	9325/17019	8988/13134	2996/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60072226	G G	T T	missense_variant missense_variant	MODERATE	HG01515.hp2 HG06807.hp2 HG01515.hp2 HG06807.hp2	a0011 a0011	a0011c0024 a0011c0058 a0011c0024 a0011c0058	a0011c0024t0025 a0011c0058t0055 a0011c0024t0025 a0011c0058t0055	a0011c0024t0025g0114 a0011c0058t0055g0124 a0011c0024t0025g0114 a0011c0058t0055g0124	2	192	0.0104	c.865 others(4): Show c.8655C>A	p.His others(7): Show p.His2885Gln	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	8992/17019	8655/13134	2885/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60072524	A A	G G	missense_variant missense_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0019 a0019	a0019c0061 a0019c0061	a0019c0061t0002 a0019c0061t0002	a0019c0061t0002g0077 a0019c0061t0002g0077	1	192	0.0052	c.835 others(4): Show c.8357T>C	p.Val others(7): Show p.Val2786Ala	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	8694/17019	8357/13134	2786/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60073145	C C	T T	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0059 a0018c0031t0059	a0018c0031t0059g0105 a0018c0031t0059g0105	1	192	0.0052	c.773 others(4): Show c.7736G>A	p.Arg others(7): Show p.Arg2579Lys	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	8073/17019	7736/13134	2579/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60073166	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02559.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2	a0007 a0007	a0007c0017 a0007c0019 a0007c0017 a0007c0019	a0007c0017t0049 a0007c0017t0050 a0007c0019t0006 a0007c0017t0049 a0007c0017t0050 a0007c0019t0006	a0007c0017t0049g0023 a0007c0017t0050g0072 a0007c0019t0006g0006 others(1): Show a0007c0017t0049g0023 a0007c0017t0050g0072 a0007c0019t0006g0006 a0007c0019t0006g0007	4	192	0.0208	c.771 others(4): Show c.7715T>C	p.Ile others(7): Show p.Ile2572Thr	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	8052/17019	7715/13134	2572/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60073499	T T	C C	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0017 a0017	a0017c0063 a0017c0063	a0017c0063t0022 a0017c0063t0022	a0017c0063t0022g0101 a0017c0063t0022g0101	1	192	0.0052	c.738 others(4): Show c.7382A>G	p.Tyr others(7): Show p.Tyr2461Cys	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	7719/17019	7382/13134	2461/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60073656	A A	G G	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0009 a0009	a0009c0021 a0009c0050 a0009c0021 a0009c0050	a0009c0021t0001 a0009c0050t0001 a0009c0021t0001 a0009c0050t0001	a0009c0021t0001g0099 a0009c0050t0001g0049 a0009c0021t0001g0099 a0009c0050t0001g0049	2	192	0.0104	c.722 others(4): Show c.7225T>C	p.Ser others(7): Show p.Ser2409Pro	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	7562/17019	7225/13134	2409/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60073928	T T	C C	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0025 a0025	a0025c0078 a0025c0078	a0025c0078t0001 a0025c0078t0001	a0025c0078t0001g0028 a0025c0078t0001g0028	1	192	0.0052	c.695 others(4): Show c.6953A>G	p.Lys others(7): Show p.Lys2318Arg	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	7290/17019	6953/13134	2318/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60074408	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 NA18906.hp2 HG02622.hp2 NA18906.hp2	a0012 a0012	a0012c0030 a0012c0077 a0012c0030 a0012c0077	a0012c0030t0001 a0012c0077t0001 a0012c0030t0001 a0012c0077t0001	a0012c0030t0001g0188 a0012c0077t0001g0146 a0012c0030t0001g0188 a0012c0077t0001g0146	2	192	0.0104	c.647 others(4): Show c.6473T>C	p.Ile others(7): Show p.Ile2158Thr	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	6810/17019	6473/13134	2158/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60074870	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02647.hp2	a0026 a0026	a0026c0059 a0026c0059	a0026c0059t0036 a0026c0059t0036	a0026c0059t0036g0183 a0026c0059t0036g0183	1	192	0.0052	c.601 others(4): Show c.6011C>T	p.Ala others(7): Show p.Ala2004Val	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	6348/17019	6011/13134	2004/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60075744	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0016 a0016	a0016c0040 a0016c0040	a0016c0040t0056 a0016c0040t0056	a0016c0040t0056g0137 a0016c0040t0056g0137	1	192	0.0052	c.513 others(4): Show c.5137G>A	p.Val others(7): Show p.Val1713Ile	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	37/44	5474/17019	5137/13134	1713/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60080566	C C	T T	missense_variant missense_variant	MODERATE	NA19010.hp1 NA19010.hp1	a0015 a0015	a0015c0049 a0015c0049	a0015c0049t0001 a0015c0049t0001	a0015c0049t0001g0158 a0015c0049t0001g0158	1	192	0.0052	c.440 others(4): Show c.4403G>A	p.Arg others(7): Show p.Arg1468His	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	36/44	4740/17019	4403/13134	1468/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60088329	T T	C C	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0014 a0014	a0014c0060 a0014c0060	a0014c0060t0043 a0014c0060t0043	a0014c0060t0043g0046 a0014c0060t0043g0046	1	192	0.0052	c.335 others(4): Show c.3358A>G	p.Lys others(7): Show p.Lys1120Glu	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	29/44	3695/17019	3358/13134	1120/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60105938	C C	A A	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0027 a0027	a0027c0086 a0027c0086	a0027c0086t0014 a0027c0086t0014	a0027c0086t0014g0009 a0027c0086t0014g0009	1	192	0.0052	c.329 others(4): Show c.3295G>T	p.Asp others(7): Show p.Asp1099Tyr	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/44	3632/17019	3295/13134	1099/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60172913	T T	C C	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0028 a0028	a0028c0065 a0028c0065	a0028c0065t0048 a0028c0065t0048	a0028c0065t0048g0136 a0028c0065t0048g0136	1	192	0.0052	c.236 others(4): Show c.2369A>G	p.Asn others(6): Show p.Asn790Ser	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	20/44	2706/17019	2369/13134	790/4377	chr10	TogoVar
ANK3_chr10_60021298_60394875	60278806	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02486.hp2 HG02809.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02809.hp1 HG02922.hp1 NA19030.hp2	a0006 a0013 a0006 a0013	a0006c0020 a0006c0090 a0006c0091 others(1): Show a0006c0020 a0006c0090 a0006c0091 a0013c0092	a0006c0020t0030 a0006c0020t0035 a0006c0090t0002 others(2): Show a0006c0020t0030 a0006c0020t0035 a0006c0090t0002 a0006c0091t0014 a0013c0092t0006	a0006c0020t0030g0002 a0006c0020t0035g0050 a0006c0090t0002g0190 others(2): Show a0006c0020t0030g0002 a0006c0020t0035g0050 a0006c0090t0002g0190 a0006c0091t0014g0001 a0013c0092t0006g0004	5	192	0.0260	c.382 others(3): Show c.382A>G	p.Thr others(6): Show p.Thr128Ala	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	4/44	719/17019	382/13134	128/4377	chr10	TogoVar
ANKAR_chr2_189669670_189751647	189676771	T T	G G	missense_variant missense_variant	MODERATE	HG01261.hp2 HG02109.hp2 HG02257.hp1 others(5): Show HG01261.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02970.hp1 HG02976.hp2 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0009 a0004c0006 a0004c0009	a0004c0006t0001 a0004c0009t0001 a0004c0006t0001 a0004c0009t0001	a0004c0006t0001g0285 a0004c0006t0001g0286 a0004c0006t0001g0289 others(5): Show a0004c0006t0001g0285 a0004c0006t0001g0286 a0004c0006t0001g0289 a0004c0006t0001g0292 a0004c0006t0001g0296 a0004c0009t0001g0284 a0004c0009t0001g0287 a0004c0009t0001g0288	8	296	0.0270	c.281 others(3): Show c.281T>G	p.Leu others(5): Show p.Leu94Arg	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	2/23	477/4521	281/4305	94/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189689541	A A	G G	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0268 a0008c0024t0001g0268	1	296	0.0034	c.616 others(3): Show c.616A>G	p.Thr others(6): Show p.Thr206Ala	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	3/23	812/4521	616/4305	206/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189689848	A A	G G	missense_variant missense_variant	MODERATE	NA18969.hp1 NA18969.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0091 a0018c0023t0001g0091	1	296	0.0034	c.923 others(3): Show c.923A>G	p.Asp others(6): Show p.Asp308Gly	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	3/23	1119/4521	923/4305	308/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189692327	A A	T T	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0006 a0017c0022t0001g0006	1	296	0.0034	c.111 others(4): Show c.1112A>T	p.His others(6): Show p.His371Leu	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	4/23	1308/4521	1112/4305	371/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189694986	A A	C C	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0223 a0009c0021t0001g0223	1	296	0.0034	c.131 others(4): Show c.1313A>C	p.Tyr others(6): Show p.Tyr438Ser	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	6/23	1509/4521	1313/4305	438/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189696277	A A	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0161 a0007c0011t0001g0162 a0007c0011t0001g0161 a0007c0011t0001g0162	2	296	0.0068	c.161 others(4): Show c.1616A>T	p.His others(6): Show p.His539Leu	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	7/23	1812/4521	1616/4305	539/1434	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)